diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index eb63ae265a..39bc161d7d 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -424,11 +424,11 @@ subset: gard_rare {source="GARD:0006735"} subset: ordo_group_of_disorders {source="Orphanet:437"} synonym: "hereditary hypophosphatemic rickets" EXACT [MONDO:patterns/hereditary] xref: GARD:0006735 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:437", source="ORDO:437/inclusion", source="ORDO:437/ntbt"} -xref: MedDRA:10060873 {source="ORDO:437/e", source="Orphanet:437"} +xref: ICD10CM:E83.3 {source="Orphanet:437/inclusion", source="Orphanet:437/ntbt", source="MONDO:relatedTo", source="Orphanet:437"} +xref: MedDRA:10060873 {source="Orphanet:437", source="Orphanet:437/e"} xref: OMIMPS:193100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:437 {source="MONDO:equivalentTo"} -xref: UMLS:C1704375 {source="ORDO:437/e", source="Orphanet:437", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1704375 {source="Orphanet:437", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:437/e"} xref: UMLS:C2363065 {source="Orphanet:437", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3536983 {source="Orphanet:437", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0024300 ! hypophosphatemic rickets @@ -487,18 +487,18 @@ synonym: "isolated growth hormone deficiency" EXACT [DOID:0060870, OMIMPS:262400 synonym: "non-acquired isolated growth hormone deficiency" RELATED [DOID:0060870] xref: DOID:0060870 {source="MONDO:equivalentTo"} xref: GARD:0012556 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:631", source="DOID:0060870", source="ORDO:631/inclusion", source="ORDO:631/ntbt"} -xref: MedDRA:10035083 {source="Orphanet:631", source="ORDO:631/e"} -xref: OMIM:173100 {source="Orphanet:631", source="MONDO:superClassOf", source="ORDO:631/btnt"} -xref: OMIM:262400 {source="Orphanet:631", source="MONDO:superClassOf", source="ORDO:631/btnt"} -xref: OMIM:262650 {source="Orphanet:631", source="MONDO:superClassOf", source="ORDO:631/btnt"} -xref: OMIM:300123 {source="Orphanet:631", source="MONDO:superClassOf", source="ORDO:631/btnt"} -xref: OMIM:307200 {source="Orphanet:631", source="MONDO:superClassOf", source="ORDO:631/btnt"} -xref: OMIM:612781 {source="Orphanet:631", source="MONDO:superClassOf", source="ORDO:631/btnt"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:631", source="DOID:0060870", source="Orphanet:631/ntbt", source="Orphanet:631/inclusion"} +xref: MedDRA:10035083 {source="Orphanet:631", source="Orphanet:631/e"} +xref: OMIM:173100 {source="Orphanet:631", source="Orphanet:631/btnt", source="MONDO:superClassOf"} +xref: OMIM:262400 {source="Orphanet:631", source="Orphanet:631/btnt", source="MONDO:superClassOf"} +xref: OMIM:262650 {source="Orphanet:631", source="Orphanet:631/btnt", source="MONDO:superClassOf"} +xref: OMIM:300123 {source="Orphanet:631", source="Orphanet:631/btnt", source="MONDO:superClassOf"} +xref: OMIM:307200 {source="Orphanet:631", source="Orphanet:631/btnt", source="MONDO:superClassOf"} +xref: OMIM:612781 {source="Orphanet:631", source="Orphanet:631/btnt", source="MONDO:superClassOf"} xref: OMIMPS:262400 {source="MONDO:equivalentTo"} xref: Orphanet:631 {source="DOID:0060870", source="MONDO:equivalentTo"} xref: SCTID:2109003 {source="MONDO:equivalentTo"} -xref: UMLS:C0013338 {source="Orphanet:631", source="DOID:0060870", source="MONDO:relatedTo", source="ORDO:631/e"} +xref: UMLS:C0013338 {source="Orphanet:631", source="DOID:0060870", source="MONDO:relatedTo", source="Orphanet:631/e"} xref: UMLS:C0271561 {source="Orphanet:631", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005152 {source="DOID:0060870", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypopituitarism is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:631"} ! non-acquired pituitary hormone deficiency @@ -756,12 +756,12 @@ def: "A developmental brain abnormality characterized by an excessive amount of subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35981"} xref: GARD:0012271 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:35981/inclusion", source="ORDO:35981/ntbt", source="Orphanet:35981"} +xref: ICD10CM:Q04.3 {source="Orphanet:35981/inclusion", source="Orphanet:35981/ntbt", source="Orphanet:35981"} xref: MESH:D065706 {source="MONDO:equivalentTo"} xref: NCIT:C116936 {source="MONDO:equivalentTo"} xref: Orphanet:35981 {source="MONDO:equivalentTo"} xref: SCTID:4945003 {source="MONDO:equivalentTo"} -xref: UMLS:C0266464 {source="MONDO:equivalentTo", source="ORDO:35981/e", source="Orphanet:35981", source="NCIT:C116936"} +xref: UMLS:C0266464 {source="Orphanet:35981/e", source="MONDO:equivalentTo", source="Orphanet:35981", source="NCIT:C116936"} is_a: MONDO:0000508 {source="Orphanet:35981"} ! syndromic intellectual disability is_a: MONDO:0002320 {source="NCIT:C116936"} ! congenital nervous system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -779,17 +779,17 @@ synonym: "pubertas praecox" EXACT [https://rarediseases.org/rare-diseases/precoc synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/] xref: GARD:0007446 {source="MONDO:equivalentTo"} xref: HP:0000826 -xref: ICD10CM:E22.8 {source="ORDO:95708/nd", source="Orphanet:95708"} -xref: ICD10CM:E30.1 {source="MONDO:equivalentTo", source="ORDO:95708/nd", source="Orphanet:95708"} +xref: ICD10CM:E22.8 {source="Orphanet:95708/nd", source="Orphanet:95708"} +xref: ICD10CM:E30.1 {source="Orphanet:95708/nd", source="MONDO:equivalentTo", source="Orphanet:95708"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10044701 {source="ORDO:95708/e", source="Orphanet:95708"} -xref: MedDRA:10058084 {source="ORDO:95708/e", source="Orphanet:95708"} -xref: MESH:D011629 {source="MONDO:equivalentTo", source="ORDO:95708/e", source="Orphanet:95708"} +xref: MedDRA:10044701 {source="Orphanet:95708/e", source="Orphanet:95708"} +xref: MedDRA:10058084 {source="Orphanet:95708/e", source="Orphanet:95708"} +xref: MESH:D011629 {source="Orphanet:95708/e", source="MONDO:equivalentTo", source="Orphanet:95708"} xref: NCIT:C79704 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"} xref: OMIM:176400 {source="GARD:0007446", source="MONDO:superClassOf"} xref: Orphanet:95708 {source="MONDO:equivalentTo"} xref: SCTID:400179000 {source="MONDO:equivalentTo"} -xref: UMLS:C0034013 {source="MONDO:equivalentTo", source="ORDO:95708/e", source="Orphanet:95708"} +xref: UMLS:C0034013 {source="Orphanet:95708/e", source="MONDO:equivalentTo", source="Orphanet:95708"} is_a: MONDO:0002259 {source="MESH:D011629"} ! gonadal disorder relationship: disease_disrupts GO:0003006 ! developmental process involved in reproduction relationship: disease_has_basis_in_disruption_of GO:0050886 ! endocrine process @@ -927,16 +927,16 @@ synonym: "question mark ear" RELATED [GARD:0009798] synonym: "question mark ear syndrome" EXACT [Orphanet:137888] synonym: "question-mark ear syndrome" RELATED [MONDO:cjm] xref: GARD:0009798 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.8 {source="Orphanet:137888", source="ORDO:137888/attributed", source="ORDO:137888/ntbt"} -xref: MESH:C538270 {source="Orphanet:137888", source="ORDO:137888/e", source="MONDO:equivalentTo"} -xref: OMIM:602483 {source="Orphanet:137888", source="ORDO:137888/btnt", source="MONDO:superClassOf"} -xref: OMIM:612798 {source="Orphanet:137888", source="ORDO:137888/btnt", source="MONDO:superClassOf"} -xref: OMIM:614669 {source="Orphanet:137888", source="ORDO:137888/btnt", source="MONDO:superClassOf"} -xref: OMIM:615706 {source="Orphanet:137888", source="ORDO:137888/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q75.8 {source="Orphanet:137888/attributed", source="Orphanet:137888/ntbt", source="Orphanet:137888"} +xref: MESH:C538270 {source="Orphanet:137888", source="MONDO:equivalentTo", source="Orphanet:137888/e"} +xref: OMIM:602483 {source="Orphanet:137888/btnt", source="Orphanet:137888", source="MONDO:superClassOf"} +xref: OMIM:612798 {source="Orphanet:137888/btnt", source="Orphanet:137888", source="MONDO:superClassOf"} +xref: OMIM:614669 {source="Orphanet:137888/btnt", source="Orphanet:137888", source="MONDO:superClassOf"} +xref: OMIM:615706 {source="Orphanet:137888/btnt", source="Orphanet:137888", source="MONDO:superClassOf"} xref: OMIMPS:602483 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="MONDO:equivalentTo"} xref: SCTID:702443003 {source="MONDO:equivalentTo"} -xref: UMLS:C1865295 {source="Orphanet:137888", source="ORDO:137888/e", source="MONDO:equivalentTo"} +xref: UMLS:C1865295 {source="Orphanet:137888", source="MONDO:equivalentTo", source="Orphanet:137888/e"} xref: UMLS:CN160484 {source="MONDO:equivalentTo"} is_a: MONDO:0007500 {source="MONDO:cjm", source="linkedlifedata"} ! ear malformation is_a: MONDO:0015334 {source="Orphanet:137888"} ! branchial arch or oral-acral syndrome @@ -964,12 +964,12 @@ name: bifid nose def: "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." [Orphanet:2695] subset: ordo_malformation_syndrome {source="Orphanet:2695"} xref: GARD:0000884 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q30.2 {source="Orphanet:2695", source="ORDO:2695/attributed", source="ORDO:2695/ntbt"} -xref: MESH:C535441 {source="ORDO:2695/e", source="Orphanet:2695", source="MONDO:equivalentTo"} -xref: OMIM:109740 {source="Orphanet:2695", source="MONDO:superClassOf", source="ORDO:2695/btnt"} -xref: OMIM:210400 {source="Orphanet:2695", source="MONDO:superClassOf", source="ORDO:2695/btnt"} +xref: ICD10CM:Q30.2 {source="Orphanet:2695/attributed", source="Orphanet:2695/ntbt", source="Orphanet:2695"} +xref: MESH:C535441 {source="Orphanet:2695", source="MONDO:equivalentTo", source="Orphanet:2695/e"} +xref: OMIM:109740 {source="Orphanet:2695/btnt", source="Orphanet:2695", source="MONDO:superClassOf"} +xref: OMIM:210400 {source="Orphanet:2695/btnt", source="Orphanet:2695", source="MONDO:superClassOf"} xref: Orphanet:2695 {source="MONDO:equivalentTo"} -xref: UMLS:C0221363 {source="ORDO:2695/e", source="Orphanet:2695", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0221363 {source="Orphanet:2695", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2695/e"} xref: UMLS:CN227089 {source="MONDO:equivalentTo"} is_a: MONDO:0015412 {source="Orphanet:2695"} ! median facial cleft is_a: MONDO:0015503 {source="Orphanet:2695"} ! nose and cavum anomaly @@ -1089,17 +1089,17 @@ synonym: "geleophysic dwarfism" EXACT [Orphanet:2623] synonym: "geleophysic dwarfism syndrome" RELATED [MONDO:cjm] xref: DOID:0111724 {source="MONDO:equivalentTo"} xref: GARD:0002449 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2623/attributed", source="ORDO:2623/ntbt", source="Orphanet:2623"} +xref: ICD10CM:Q87.1 {source="Orphanet:2623", source="Orphanet:2623/attributed", source="Orphanet:2623/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063361 {source="Orphanet:2623", source="ORDO:2623/e"} -xref: MESH:C537677 {source="Orphanet:2623", source="ORDO:2623/e"} -xref: OMIM:231050 {source="ORDO:2623/btnt", source="Orphanet:2623", source="MONDO:superClassOf"} -xref: OMIM:614185 {source="ORDO:2623/btnt", source="Orphanet:2623", source="MONDO:superClassOf"} +xref: MedDRA:10063361 {source="Orphanet:2623", source="Orphanet:2623/e"} +xref: MESH:C537677 {source="Orphanet:2623", source="Orphanet:2623/e"} +xref: OMIM:231050 {source="Orphanet:2623", source="MONDO:superClassOf", source="Orphanet:2623/btnt"} +xref: OMIM:614185 {source="Orphanet:2623", source="MONDO:superClassOf", source="Orphanet:2623/btnt"} xref: OMIM:617809 {source="MONDO:superClassOf", source="https://orcid.org/0000-0001-8612-1062"} xref: OMIMPS:231050 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="MONDO:equivalentTo"} xref: SCTID:28557005 {source="MONDO:equivalentTo"} -xref: UMLS:C3489726 {source="Orphanet:2623", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2623/e"} +xref: UMLS:C3489726 {source="Orphanet:2623", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2623/e"} is_a: MONDO:0019695 {source="Orphanet:2623"} ! acromelic dysplasia relationship: has_modifier MONDO:0021152 {source="OMIMPS:231050"} ! inherited property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/4666 xsd:string @@ -1165,12 +1165,12 @@ synonym: "immunodeficiency-centromeric instability-facial anomalies" EXACT [OMIM synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [Orphanet:2268] xref: DOID:0090007 {source="MONDO:equivalentTo"} xref: GARD:0002945 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D84.8 {source="Orphanet:2268", source="ORDO:2268/attributed", source="ORDO:2268/ntbt", source="DOID:0090007"} +xref: ICD10CM:D84.8 {source="Orphanet:2268/attributed", source="Orphanet:2268/ntbt", source="Orphanet:2268", source="DOID:0090007"} xref: MESH:C537362 {source="MONDO:equivalentTo"} -xref: OMIM:242860 {source="Orphanet:2268", source="MONDO:superClassOf", source="ORDO:2268/btnt"} -xref: OMIM:614069 {source="Orphanet:2268", source="MONDO:superClassOf", source="ORDO:2268/btnt"} -xref: OMIM:616910 {source="Orphanet:2268", source="MONDO:superClassOf", source="ORDO:2268/btnt"} -xref: OMIM:616911 {source="Orphanet:2268", source="MONDO:superClassOf", source="ORDO:2268/btnt"} +xref: OMIM:242860 {source="Orphanet:2268/btnt", source="Orphanet:2268", source="MONDO:superClassOf"} +xref: OMIM:614069 {source="Orphanet:2268/btnt", source="Orphanet:2268", source="MONDO:superClassOf"} +xref: OMIM:616910 {source="Orphanet:2268/btnt", source="Orphanet:2268", source="MONDO:superClassOf"} +xref: OMIM:616911 {source="Orphanet:2268/btnt", source="Orphanet:2268", source="MONDO:superClassOf"} xref: OMIMPS:242860 {source="MONDO:equivalentTo", source="DOID:0090007"} xref: Orphanet:2268 {source="MONDO:equivalentTo", source="DOID:0090007"} xref: SCTID:234633000 {source="MONDO:equivalentTo"} @@ -1199,15 +1199,15 @@ def: "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurr subset: ordo_disease {source="Orphanet:2340"} synonym: "keratosis pilaris decalvans" EXACT [MONDO:cjm] xref: GARD:0006829 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:2340/attributed", source="ORDO:2340/ntbt", source="Orphanet:2340"} +xref: ICD10CM:Q82.8 {source="Orphanet:2340/attributed", source="Orphanet:2340/ntbt", source="Orphanet:2340"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536159 {source="MONDO:superClassOf", source="Orphanet:2340", source="ORDO:2340/e"} -xref: OMIM:308800 {source="MONDO:superClassOf", source="ORDO:2340/btnt", source="Orphanet:2340"} -xref: OMIM:604093 {source="MONDO:subClassOf", source="ORDO:2340/ntbt", source="Orphanet:2340"} -xref: OMIM:612843 {source="MONDO:superClassOf", source="ORDO:2340/btnt", source="Orphanet:2340"} +xref: MESH:C536159 {source="Orphanet:2340/e", source="MONDO:superClassOf", source="Orphanet:2340"} +xref: OMIM:308800 {source="MONDO:superClassOf", source="Orphanet:2340/btnt", source="Orphanet:2340"} +xref: OMIM:604093 {source="MONDO:subClassOf", source="Orphanet:2340/ntbt", source="Orphanet:2340"} +xref: OMIM:612843 {source="MONDO:superClassOf", source="Orphanet:2340/btnt", source="Orphanet:2340"} xref: Orphanet:2340 {source="MONDO:equivalentTo"} xref: SCTID:238626006 {source="MONDO:equivalentTo"} -xref: UMLS:C0343057 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2340", source="ORDO:2340/e"} +xref: UMLS:C0343057 {source="Orphanet:2340/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2340"} is_a: MONDO:0006552 ! folliculitis is_a: MONDO:0006566 ! keratosis is_a: MONDO:0018855 {source="Orphanet:2340", source="linkedlifedata"} ! keratosis pilaris atrophicans @@ -1247,16 +1247,16 @@ synonym: "Mosaic variegated aneuploidy syndrome 1" EXACT [NCIT:C128192] synonym: "MVA1" EXACT ABBREVIATION [NCIT:C128192] synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052] xref: GARD:0003007 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q99.8 {source="ORDO:1052/attributed", source="ORDO:1052/ntbt", source="Orphanet:1052"} +xref: ICD10CM:Q99.8 {source="Orphanet:1052/attributed", source="Orphanet:1052/ntbt", source="Orphanet:1052"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536987 {source="MONDO:equivalentTo", source="ORDO:1052/e", source="Orphanet:1052"} +xref: MESH:C536987 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="Orphanet:1052"} xref: NCIT:C128192 {source="MONDO:equivalentTo"} xref: OMIM:257300 {source="MONDO:superClassOf", source="Orphanet:1052"} -xref: OMIM:614114 {source="MONDO:superClassOf", source="ORDO:1052/btnt", source="Orphanet:1052"} +xref: OMIM:614114 {source="Orphanet:1052/btnt", source="MONDO:superClassOf", source="Orphanet:1052"} xref: OMIMPS:257300 {source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="MONDO:equivalentTo", source="OMIM:257300"} xref: SCTID:700056005 {source="MONDO:equivalentTo"} -xref: UMLS:C1850343 {source="MONDO:equivalentTo", source="OMIM:257300", source="NCIT:C128192", source="ORDO:1052/e", source="Orphanet:1052"} +xref: UMLS:C1850343 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="OMIM:257300", source="NCIT:C128192", source="Orphanet:1052"} xref: UMLS:C2931286 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1052"} is_a: MONDO:0015356 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:1052/inferred", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0019040 {source="MESH:C536987", source="Orphanet:1052", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal disorder @@ -1354,8 +1354,8 @@ synonym: "TGA" EXACT ABBREVIATION [Orphanet:216675] synonym: "TGV" EXACT ABBREVIATION [Orphanet:216675] synonym: "transposition of great vessels" EXACT [NCIT:C84742] synonym: "transposition of the great vessels" EXACT [Orphanet:216675] -xref: ICD10CM:Q20.3 {source="ORDO:216675/btnt", source="Orphanet:216675"} -xref: ICD10CM:Q20.5 {source="ORDO:216675/btnt", source="Orphanet:216675"} +xref: ICD10CM:Q20.3 {source="Orphanet:216675/btnt", source="Orphanet:216675"} +xref: ICD10CM:Q20.5 {source="Orphanet:216675/btnt", source="Orphanet:216675"} xref: MESH:D014188 {source="MONDO:equivalentTo"} xref: NCIT:C84742 {source="MONDO:equivalentTo"} xref: Orphanet:216675 {source="MONDO:equivalentTo"} @@ -1512,18 +1512,18 @@ synonym: "microphthalmia with colobomatous cyst" EXACT [Orphanet:98938] synonym: "microphthalmia-anophthalmia-coloboma syndrome" EXACT [Orphanet:98938] synonym: "microphthalmos bilateral, colobomatous orbital cyst" RELATED [GARD:0003644, MESH:C537463] xref: GARD:0003644 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="ORDO:98938/attributed", source="ORDO:98938/ntbt", source="Orphanet:98938"} +xref: ICD10CM:Q11.2 {source="Orphanet:98938", source="Orphanet:98938/attributed", source="Orphanet:98938/ntbt"} xref: MESH:C537463 {source="MONDO:equivalentTo"} -xref: OMIM:251505 {source="ORDO:98938/btnt", source="GARD:0003644", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:300345 {source="MONDO:superClassOf", source="ORDO:98938/e", source="Orphanet:98938"} -xref: OMIM:601186 {source="ORDO:98938/ntbt", source="MONDO:relatedTo", source="Orphanet:98938"} -xref: OMIM:605738 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:610092 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:611638 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:613703 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:614497 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:615145 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} -xref: OMIM:616428 {source="ORDO:98938/btnt", source="MONDO:superClassOf", source="Orphanet:98938"} +xref: OMIM:251505 {source="GARD:0003644", source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:300345 {source="Orphanet:98938/e", source="MONDO:superClassOf", source="Orphanet:98938"} +xref: OMIM:601186 {source="MONDO:relatedTo", source="Orphanet:98938", source="Orphanet:98938/ntbt"} +xref: OMIM:605738 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:610092 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:611638 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:613703 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:614497 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:615145 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} +xref: OMIM:616428 {source="MONDO:superClassOf", source="Orphanet:98938", source="Orphanet:98938/btnt"} xref: OMIMPS:300345 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:equivalentTo", source="OMIM:300345"} xref: UMLS:C2931501 {source="GARD:0003644", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98938"} @@ -1556,22 +1556,22 @@ synonym: "Warburg syndrome" RELATED [GARD:0002599] synonym: "WWS" EXACT ABBREVIATION [Orphanet:899] xref: DOID:0050560 {source="MONDO:equivalentTo"} xref: GARD:0002599 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:899", source="ORDO:899/attributed", source="ORDO:899/ntbt"} -xref: MESH:D058494 {source="ORDO:899/e", source="Orphanet:899", source="MONDO:equivalentTo"} +xref: ICD10CM:Q04.3 {source="Orphanet:899/attributed", source="Orphanet:899/ntbt", source="Orphanet:899"} +xref: MESH:D058494 {source="Orphanet:899", source="MONDO:equivalentTo", source="Orphanet:899/e"} xref: NCIT:C99109 {source="MONDO:equivalentTo"} -xref: OMIM:236670 {source="ORDO:899/ntbt", source="MONDO:directSiblingOf"} -xref: OMIM:253280 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt", source="DOID:0050560"} -xref: OMIM:253800 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:613150 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:613153 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:613154 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:614643 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:614830 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:615041 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:615181 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:615249 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:615287 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} -xref: OMIM:616538 {source="Orphanet:899", source="MONDO:superClassOf", source="ORDO:899/btnt"} +xref: OMIM:236670 {source="Orphanet:899/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:253280 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf", source="DOID:0050560"} +xref: OMIM:253800 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:613150 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:613153 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:613154 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:614643 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:614830 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:615041 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:615181 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:615249 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:615287 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} +xref: OMIM:616538 {source="Orphanet:899/btnt", source="Orphanet:899", source="MONDO:superClassOf"} xref: OMIMPS:236670 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:equivalentTo"} xref: SCTID:111504002 {source="MONDO:equivalentTo"} @@ -1648,16 +1648,16 @@ synonym: "Neu Laxova syndrome" RELATED [GARD:0000102] synonym: "NLS" RELATED ABBREVIATION [GARD:0000102] synonym: "nuclear localization signal" EXACT [NCIT:C14089] xref: GARD:0000102 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2671/attributed", source="ORDO:2671/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2671/attributed", source="Orphanet:2671/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536405 {source="MONDO:equivalentTo", source="ORDO:2671/e"} +xref: MESH:C536405 {source="MONDO:equivalentTo", source="Orphanet:2671/e"} xref: NCIT:C14089 {source="MONDO:equivalentTo"} -xref: OMIM:256520 {source="GARD:0000102", source="MONDO:superClassOf", source="ORDO:2671/e"} -xref: OMIM:616038 {source="MONDO:superClassOf", source="ORDO:2671/btnt"} +xref: OMIM:256520 {source="GARD:0000102", source="MONDO:superClassOf", source="Orphanet:2671/e"} +xref: OMIM:616038 {source="Orphanet:2671/btnt", source="MONDO:superClassOf"} xref: OMIMPS:256520 {source="MONDO:equivalentTo"} xref: Orphanet:2671 {source="GARD:0000102", source="MONDO:equivalentTo", source="OMIM:256520"} xref: SCTID:77817004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265218 {source="GARD:0000102", source="MONDO:equivalentTo", source="ORDO:2671/e"} +xref: UMLS:C0265218 {source="GARD:0000102", source="MONDO:equivalentTo", source="Orphanet:2671/e"} is_a: MONDO:0015148 {source="Orphanet:2671"} ! lissencephaly type 3 is_a: MONDO:0015159 {source="Orphanet:2671"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017270 ! autosomal ichthyosis syndrome @@ -1787,11 +1787,11 @@ synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882] synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT [] xref: DOID:0090139 {source="MONDO:equivalentTo"} xref: GARD:0009882 {source="MONDO:equivalentTo"} -xref: ICD10CM:E25.8 {source="Orphanet:168588", source="ORDO:168588/attributed", source="ORDO:168588/ntbt"} +xref: ICD10CM:E25.8 {source="Orphanet:168588/attributed", source="Orphanet:168588/ntbt", source="Orphanet:168588"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536447 {source="MONDO:equivalentTo"} -xref: OMIM:604931 {source="Orphanet:168588", source="MONDO:superClassOf", source="ORDO:168588/btnt", source="GARD:0009882"} -xref: OMIM:614662 {source="Orphanet:168588", source="MONDO:superClassOf", source="ORDO:168588/btnt"} +xref: OMIM:604931 {source="Orphanet:168588/btnt", source="Orphanet:168588", source="MONDO:superClassOf", source="GARD:0009882"} +xref: OMIM:614662 {source="Orphanet:168588/btnt", source="Orphanet:168588", source="MONDO:superClassOf"} xref: OMIMPS:604931 {source="MONDO:equivalentTo", source="DOID:0090139"} xref: Orphanet:168588 {source="MONDO:equivalentTo"} xref: SCTID:124138004 {source="MONDO:equivalentTo"} @@ -1857,11 +1857,11 @@ synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1, OMIM:135500] synonym: "ZLS" RELATED ABBREVIATION [GARD:0000385] synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135500] xref: GARD:0000385 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3473/attributed", source="ORDO:3473/ntbt", source="Orphanet:3473"} +xref: ICD10CM:Q87.8 {source="Orphanet:3473/attributed", source="Orphanet:3473/ntbt", source="Orphanet:3473"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536725 {source="MONDO:equivalentTo"} -xref: OMIM:135500 {source="MONDO:superClassOf", source="Orphanet:3473", source="ORDO:3473/e"} -xref: OMIM:616455 {source="MONDO:superClassOf", source="ORDO:3473/btnt", source="Orphanet:3473"} +xref: OMIM:135500 {source="Orphanet:3473/e", source="MONDO:superClassOf", source="Orphanet:3473"} +xref: OMIM:616455 {source="MONDO:superClassOf", source="Orphanet:3473/btnt", source="Orphanet:3473"} xref: OMIMPS:135500 {source="MONDO:equivalentTo"} xref: Orphanet:3473 {source="MONDO:equivalentTo", source="OMIM:135500"} xref: SCTID:699447001 {source="MONDO:equivalentTo"} @@ -1926,7 +1926,7 @@ xref: Orphanet:391408 {source="OMIM:616033"} xref: UMLS:C4014997 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:616033"} is_a: MONDO:0001149 {source="MONDO:cjm"} ! microcephaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28403 {source="mim2gene_medgen"} ! TRMT10A -relationship: excluded_subClassOf MONDO:0018320 {source="ORDO:391408/btnt"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome +relationship: excluded_subClassOf MONDO:0018320 {source="Orphanet:391408/btnt"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome [Term] id: MONDO:0000209 @@ -1982,11 +1982,11 @@ synonym: "idiopathic infantile hypercalcemia" EXACT [NCIT:C129734] synonym: "infantile hypercalcemia" EXACT [MONDO:cjm] synonym: "infantile hypercalcemia disease" EXACT [MONDO:design_pattern] synonym: "infantile onset hypercalcemia disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] -xref: ICD10CM:E83.5 {source="ORDO:300547/attributed", source="ORDO:300547/ntbt", source="Orphanet:300547"} +xref: ICD10CM:E83.5 {source="Orphanet:300547", source="Orphanet:300547/attributed", source="Orphanet:300547/ntbt"} xref: MESH:C562999 {source="MONDO:equivalentTo"} xref: NCIT:C129734 {source="MONDO:equivalentTo"} -xref: OMIM:143880 {source="Orphanet:300547", source="MONDO:superClassOf", source="ORDO:300547/e"} -xref: OMIM:616963 {source="ORDO:300547/btnt", source="Orphanet:300547", source="MONDO:superClassOf"} +xref: OMIM:143880 {source="Orphanet:300547", source="MONDO:superClassOf", source="Orphanet:300547/e"} +xref: OMIM:616963 {source="Orphanet:300547", source="MONDO:superClassOf", source="Orphanet:300547/btnt"} xref: OMIMPS:143880 {source="MONDO:equivalentTo"} xref: Orphanet:300547 {source="MONDO:equivalentTo", source="OMIM:143880"} xref: SCTID:276645004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -3370,8 +3370,8 @@ synonym: "toulon typhus" EXACT [DOID:0050481] synonym: "urban typhus" EXACT [DOID:0050481] synonym: "urban typhus of Malaya" EXACT [DOID:0050481] xref: DOID:0050481 {source="MONDO:equivalentTo"} -xref: ICD10CM:A75.2 {source="ORDO:83315/e", source="Orphanet:83315"} -xref: MedDRA:10028282 {source="ORDO:83315/e", source="Orphanet:83315"} +xref: ICD10CM:A75.2 {source="Orphanet:83315", source="Orphanet:83315/e"} +xref: MedDRA:10028282 {source="Orphanet:83315", source="Orphanet:83315/e"} xref: MESH:D014437 {source="MONDO:equivalentTo"} xref: NCIT:C84688 {source="MONDO:equivalentTo"} xref: Orphanet:83315 {source="MONDO:equivalentTo"} @@ -3709,11 +3709,11 @@ synonym: "Ullrich disease" RELATED [DOID:0050558, https://www.ncbi.nlm.nih.gov/g synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558] xref: DOID:0050558 {source="MONDO:equivalentTo"} xref: GARD:0004769 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:75840", source="ORDO:75840/attributed", source="ORDO:75840/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:75840/attributed", source="Orphanet:75840/ntbt", source="Orphanet:75840"} xref: MESH:C537521 {source="MONDO:equivalentTo"} xref: NCIT:C123438 {source="MONDO:equivalentTo"} -xref: OMIM:254090 {source="GARD:0004769", source="MONDO:superClassOf", source="ORDO:75840/e"} -xref: OMIM:616470 {source="MONDO:superClassOf", source="ORDO:75840/btnt"} +xref: OMIM:254090 {source="GARD:0004769", source="MONDO:superClassOf", source="Orphanet:75840/e"} +xref: OMIM:616470 {source="Orphanet:75840/btnt", source="MONDO:superClassOf"} xref: OMIMPS:254090 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:75840 {source="GARD:0004769", source="MONDO:equivalentTo", source="OMIM:254090"} xref: SCTID:240062007 {source="MONDO:equivalentTo"} @@ -4942,7 +4942,7 @@ xref: ICD9:751.62 {source="MONDO:equivalentTo", source="i2s"} xref: MedDRA:10010427 {source="MONDO:relatedTo"} xref: MedDRA:10048834 {source="MONDO:relatedTo"} xref: MedDRA:10083939 {source="MONDO:equivalentTo"} -xref: MESH:C536330 {source="Orphanet:2924", source="ORDO:2924/e"} +xref: MESH:C536330 {source="Orphanet:2924/e", source="Orphanet:2924"} xref: NCIT:C82833 {source="MONDO:equivalentTo"} xref: OMIM:174050 {source="DOID:0050770", source="MONDO:superClassOf"} xref: OMIMPS:174050 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -5054,13 +5054,13 @@ synonym: "familial short QT syndrome" RELATED [Orphanet:51083] synonym: "short QT syndrome" EXACT CLINGEN_PREFERRED [] synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT:C71060] xref: DOID:0050793 {source="MONDO:equivalentTo"} -xref: ICD10CM:I49.8 {source="ORDO:51083/attributed", source="ORDO:51083/ntbt", source="Orphanet:51083"} +xref: ICD10CM:I49.8 {source="Orphanet:51083", source="Orphanet:51083/attributed", source="Orphanet:51083/ntbt"} xref: ICD9:426.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C580439 {source="MONDO:equivalentTo"} xref: NCIT:C71060 {source="MONDO:equivalentTo"} -xref: OMIM:609620 {source="MONDO:superClassOf", source="ORDO:51083/e"} -xref: OMIM:609621 {source="ORDO:51083/btnt", source="MONDO:superClassOf"} -xref: OMIM:609622 {source="ORDO:51083/btnt", source="MONDO:superClassOf"} +xref: OMIM:609620 {source="Orphanet:51083/e", source="MONDO:superClassOf"} +xref: OMIM:609621 {source="MONDO:superClassOf", source="Orphanet:51083/btnt"} +xref: OMIM:609622 {source="MONDO:superClassOf", source="Orphanet:51083/btnt"} xref: OMIMPS:609620 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:51083 {source="MONDO:equivalentTo", source="OMIM:609620"} xref: SCTID:698272007 {source="MONDO:equivalentTo"} @@ -5085,16 +5085,16 @@ synonym: "retinal cone dystrophy" RELATED [DOID:0050795] synonym: "stationary cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/] xref: DOID:0050795 {source="MONDO:equivalentTo"} xref: GARD:0011897 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:subClassOf", source="Orphanet:1871", source="ORDO:1871/attributed", source="ORDO:1871/ntbt"} +xref: ICD10CM:H35.5 {source="MONDO:subClassOf", source="Orphanet:1871", source="Orphanet:1871/attributed", source="Orphanet:1871/ntbt"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:180020 {source="MONDO:superClassOf", source="ORDO:1871/btnt"} -xref: OMIM:300085 {source="MONDO:relatedTo", source="ORDO:1871/btnt"} -xref: OMIM:304030 {source="MONDO:superClassOf", source="ORDO:1871/btnt"} -xref: OMIM:602093 {source="ORDO:1871/e", source="MONDO:superClassOf"} -xref: OMIM:613093 {source="MONDO:superClassOf", source="ORDO:1871/btnt"} +xref: OMIM:180020 {source="Orphanet:1871/btnt", source="MONDO:superClassOf"} +xref: OMIM:300085 {source="MONDO:relatedTo", source="Orphanet:1871/btnt"} +xref: OMIM:304030 {source="Orphanet:1871/btnt", source="MONDO:superClassOf"} +xref: OMIM:602093 {source="MONDO:superClassOf", source="Orphanet:1871/e"} +xref: OMIM:613093 {source="Orphanet:1871/btnt", source="MONDO:superClassOf"} xref: Orphanet:1871 {source="MONDO:equivalentTo"} xref: SCTID:312917007 {source="MONDO:equivalentTo"} -xref: UMLS:C0271092 {source="Orphanet:1871", source="ORDO:1871/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0271092 {source="Orphanet:1871", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1871/e"} xref: UMLS:C0730290 {source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="DOID:0050795", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disorder is_a: MONDO:0019118 {source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy @@ -5111,7 +5111,7 @@ synonym: "CDS" EXACT ABBREVIATION [Orphanet:79172] synonym: "cerebral creatine deficiency syndrome" EXACT [Orphanet:79172] synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221] xref: DOID:0050798 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="Orphanet:79172", source="ORDO:79172/attributed", source="ORDO:79172/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:79172", source="Orphanet:79172/attributed", source="Orphanet:79172/ntbt"} xref: OMIMPS:300352 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79172 {source="MONDO:equivalentTo"} xref: UMLS:CN227588 {source="MONDO:equivalentTo"} @@ -5217,14 +5217,14 @@ synonym: "urofacial Ochoa's syndrome" RELATED [GARD:0000104] synonym: "urofacial syndrome" EXACT [Orphanet:2704] xref: DOID:0050816 {source="MONDO:equivalentTo"} xref: GARD:0000104 {source="MONDO:equivalentTo"} -xref: ICD10CM:N31.8 {source="ORDO:2704/attributed", source="ORDO:2704/ntbt", source="Orphanet:2704"} -xref: MESH:C536480 {source="MONDO:equivalentTo", source="Orphanet:2704", source="ORDO:2704/e"} -xref: OMIM:236730 {source="GARD:0000104", source="MONDO:superClassOf", source="ORDO:2704/e", source="DOID:0050816"} -xref: OMIM:615112 {source="ORDO:2704/btnt", source="MONDO:superClassOf", source="DOID:0050816"} +xref: ICD10CM:N31.8 {source="Orphanet:2704", source="Orphanet:2704/attributed", source="Orphanet:2704/ntbt"} +xref: MESH:C536480 {source="Orphanet:2704/e", source="MONDO:equivalentTo", source="Orphanet:2704"} +xref: OMIM:236730 {source="Orphanet:2704/e", source="GARD:0000104", source="MONDO:superClassOf", source="DOID:0050816"} +xref: OMIM:615112 {source="MONDO:superClassOf", source="Orphanet:2704/btnt", source="DOID:0050816"} xref: OMIMPS:236730 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2704 {source="MONDO:equivalentTo", source="GARD:0000104", source="OMIM:236730"} xref: SCTID:236533008 {source="MONDO:equivalentTo"} -xref: UMLS:C0403555 {source="GARD:0000104", source="MONDO:notFoundInDiseaseSubset", source="OMIM:236730", source="Orphanet:2704", source="ORDO:2704/e"} +xref: UMLS:C0403555 {source="Orphanet:2704/e", source="GARD:0000104", source="MONDO:notFoundInDiseaseSubset", source="OMIM:236730", source="Orphanet:2704"} is_a: MONDO:0006025 {source="DOID:0050816", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019721 {source="Orphanet:2704"} ! syndromic renal or urinary tract malformation relationship: disease_has_feature HP:0000011 {source="Wikidata"} ! Neurogenic bladder @@ -5909,10 +5909,10 @@ synonym: "pagetoid amyotrophic lateral sclerosis" EXACT [Orphanet:52430] synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430] xref: DOID:0050881 {source="MONDO:equivalentTo"} xref: GARD:0010899 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.8 {source="Orphanet:52430", source="ORDO:52430/attributed", source="ORDO:52430/ntbt"} -xref: OMIM:167320 {source="DOID:0050881", source="Orphanet:52430", source="MONDO:superClassOf", source="ORDO:52430/e"} -xref: OMIM:615422 {source="DOID:0050881", source="Orphanet:52430", source="MONDO:superClassOf", source="ORDO:52430/btnt"} -xref: OMIM:615424 {source="DOID:0050881", source="Orphanet:52430", source="MONDO:superClassOf", source="ORDO:52430/btnt"} +xref: ICD10CM:G71.8 {source="Orphanet:52430", source="Orphanet:52430/attributed", source="Orphanet:52430/ntbt"} +xref: OMIM:167320 {source="DOID:0050881", source="Orphanet:52430", source="MONDO:superClassOf", source="Orphanet:52430/e"} +xref: OMIM:615422 {source="DOID:0050881", source="Orphanet:52430", source="Orphanet:52430/btnt", source="MONDO:superClassOf"} +xref: OMIM:615424 {source="DOID:0050881", source="Orphanet:52430", source="Orphanet:52430/btnt", source="MONDO:superClassOf"} xref: OMIMPS:167320 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="MONDO:equivalentTo"} xref: SCTID:703544004 {source="MONDO:equivalentTo"} @@ -7518,12 +7518,12 @@ synonym: "fallopian tube benign neoplasm" EXACT [MONDO:patterns/location] synonym: "fallopian tube neoplasm, benign" EXACT [NCIT:C4517] synonym: "fallopian tube tumor, benign" EXACT [NCIT:C4517] xref: DOID:0060111 {source="MONDO:equivalentTo"} -xref: ICD10CM:D28.2 {source="ORDO:180237/ntbt", source="Orphanet:180237"} -xref: MedDRA:10053865 {source="Orphanet:180237", source="ORDO:180237/e"} +xref: ICD10CM:D28.2 {source="Orphanet:180237/ntbt", source="Orphanet:180237"} +xref: MedDRA:10053865 {source="Orphanet:180237/e", source="Orphanet:180237"} xref: NCIT:C4517 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:180237 {source="MONDO:equivalentTo"} xref: SCTID:92100009 {source="MONDO:equivalentTo"} -xref: UMLS:C0346190 {source="MONDO:equivalentTo", source="NCIT:C4517", source="Orphanet:180237", source="ORDO:180237/e"} +xref: UMLS:C0346190 {source="Orphanet:180237/e", source="MONDO:equivalentTo", source="NCIT:C4517", source="Orphanet:180237"} is_a: MONDO:0000624 {source="DOID:0060111", source="MONDO:Redundant", source="NCIT:C4517"} ! benign female reproductive system neoplasm is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C4517", source="OWLReasoner:2017", source="linkedlifedata"} ! fallopian tube neoplasm is_a: MONDO:0021148 {source="MONDO:0015861-obsoleted"} ! female reproductive system neoplasm @@ -8676,15 +8676,15 @@ synonym: "DUH" RELATED ABBREVIATION [GARD:0001996] synonym: "dyschromatosis universalis" EXACT [MONDO:0007484] xref: DOID:0060304 {source="MONDO:equivalentTo"} xref: GARD:0001996 {source="MONDO:equivalentTo"} -xref: ICD10CM:L81.8 {source="ORDO:241/attributed", source="ORDO:241/ntbt", source="Orphanet:241"} +xref: ICD10CM:L81.8 {source="Orphanet:241", source="Orphanet:241/attributed", source="Orphanet:241/ntbt"} xref: MESH:C535730 {source="MONDO:equivalentTo", source="DOID:0060304"} -xref: OMIM:127500 {source="MONDO:superClassOf", source="DOID:0060304", source="ORDO:241/e", source="Orphanet:241"} -xref: OMIM:612715 {source="ORDO:241/btnt", source="MONDO:superClassOf", source="DOID:0060304", source="Orphanet:241"} -xref: OMIM:615402 {source="ORDO:241/btnt", source="MONDO:superClassOf", source="DOID:0060304", source="Orphanet:241"} +xref: OMIM:127500 {source="Orphanet:241/e", source="MONDO:superClassOf", source="DOID:0060304", source="Orphanet:241"} +xref: OMIM:612715 {source="MONDO:superClassOf", source="DOID:0060304", source="Orphanet:241", source="Orphanet:241/btnt"} +xref: OMIM:615402 {source="MONDO:superClassOf", source="DOID:0060304", source="Orphanet:241", source="Orphanet:241/btnt"} xref: OMIMPS:127500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:241 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:127500", source="DOID:0060304"} xref: SCTID:239082002 {source="MONDO:equivalentTo"} -xref: UMLS:C1306229 {source="MONDO:equivalentTo", source="ORDO:241/e", source="Orphanet:241"} +xref: UMLS:C1306229 {source="Orphanet:241/e", source="MONDO:equivalentTo", source="Orphanet:241"} xref: UMLS:C2930995 {source="MONDO:equivalentTo", source="DOID:0060304"} is_a: MONDO:0006600 {source="DOID:0060304", source="MESH:C535730", source="linkedlifedata/inferred"} ! pigmentation disease is_a: MONDO:0019289 {source="Orphanet:241", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin @@ -9862,25 +9862,25 @@ synonym: "rare form of salmonellosis" EXACT [MONDO:0019331] synonym: "Salmonella infection" EXACT [DOID:0060859, MONDO:patterns/infectious_disease_by_agent] xref: DOID:0060859 {source="MONDO:equivalentTo"} xref: EFO:1001418 {source="MONDO:equivalentTo"} -xref: ICD10CM:A01.0 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A01.1 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A01.2 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A01.3 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A01.4 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A02.0 {source="DOID:0060859", source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A02.1 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A02.2 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A02.8 {source="ORDO:795/btnt", source="Orphanet:795"} -xref: ICD10CM:A02.9 {source="ORDO:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A01.0 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A01.1 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A01.2 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A01.3 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A01.4 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A02.0 {source="Orphanet:795/btnt", source="DOID:0060859", source="Orphanet:795"} +xref: ICD10CM:A02.1 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A02.2 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A02.8 {source="Orphanet:795/btnt", source="Orphanet:795"} +xref: ICD10CM:A02.9 {source="Orphanet:795/btnt", source="Orphanet:795"} xref: ICD9:003.0 {source="MONDO:relatedTo", source="DOID:0060859"} xref: ICD9:003.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:003.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10039447 {source="ORDO:795/e", source="Orphanet:795"} +xref: MedDRA:10039447 {source="Orphanet:795/e", source="Orphanet:795"} xref: MESH:D012480 {source="MONDO:equivalentTo"} xref: Orphanet:795 {source="MONDO:equivalentTo"} xref: SCTID:302231008 {source="MONDO:equivalentTo"} xref: UMLS:C0036114 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:795"} -xref: UMLS:C0036117 {source="MONDO:equivalentTo", source="ORDO:795/e", source="Orphanet:795"} +xref: UMLS:C0036117 {source="Orphanet:795/e", source="MONDO:equivalentTo", source="Orphanet:795"} xref: UMLS:CN205993 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:0060859"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="Orphanet:795"} ! bacterial infectious disease @@ -10059,15 +10059,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:249"} synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609] xref: DOID:0080031 {source="MONDO:equivalentTo"} xref: GARD:0006444 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q78.1 {source="ORDO:249/e", source="Orphanet:249", source="ORDO:249/specific", source="MONDO:superClassOf"} +xref: ICD10CM:Q78.1 {source="Orphanet:249", source="MONDO:superClassOf", source="Orphanet:249/e", source="Orphanet:249/specific"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10016664 {source="ORDO:249/e", source="Orphanet:249"} -xref: MESH:D005357 {source="ORDO:249/e", source="Orphanet:249", source="MONDO:equivalentTo"} +xref: MedDRA:10016664 {source="Orphanet:249", source="Orphanet:249/e"} +xref: MESH:D005357 {source="Orphanet:249", source="MONDO:equivalentTo", source="Orphanet:249/e"} xref: NCIT:C34609 {source="MONDO:equivalentTo"} xref: Orphanet:249 {source="MONDO:equivalentTo"} xref: SCTID:10623005 {source="MONDO:equivalentTo"} xref: SCTID:254145001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C0016063 {source="ORDO:249/e", source="Orphanet:249", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0016063 {source="Orphanet:249", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:249/e"} xref: UMLS:C0259779 {source="NCIT:C34609", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000833 {source="DOID:0080031"} ! bone remodeling disease relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:249"} ! obsolete primary bone dysplasia with disorganized development of skeletal components @@ -10207,11 +10207,11 @@ synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:6004 synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885] xref: DOID:0080099 {source="MONDO:equivalentTo"} xref: GARD:0003885 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.3 {source="Orphanet:2598", source="ORDO:2598/attributed", source="ORDO:2598/ntbt"} -xref: MESH:C536101 {source="ORDO:2598/e", source="Orphanet:2598", source="MONDO:equivalentTo"} -xref: OMIM:500011 {source="DOID:0080099", source="Orphanet:2598", source="MONDO:superClassOf", source="ORDO:2598/btnt"} -xref: OMIM:600462 {source="DOID:0080099", source="ORDO:2598/e", source="Orphanet:2598", source="MONDO:superClassOf"} -xref: OMIM:613561 {source="DOID:0080099", source="Orphanet:2598", source="MONDO:superClassOf", source="ORDO:2598/btnt"} +xref: ICD10CM:G71.3 {source="Orphanet:2598/attributed", source="Orphanet:2598/ntbt", source="Orphanet:2598"} +xref: MESH:C536101 {source="Orphanet:2598", source="MONDO:equivalentTo", source="Orphanet:2598/e"} +xref: OMIM:500011 {source="Orphanet:2598/btnt", source="DOID:0080099", source="Orphanet:2598", source="MONDO:superClassOf"} +xref: OMIM:600462 {source="DOID:0080099", source="Orphanet:2598", source="MONDO:superClassOf", source="Orphanet:2598/e"} +xref: OMIM:613561 {source="Orphanet:2598/btnt", source="DOID:0080099", source="Orphanet:2598", source="MONDO:superClassOf"} xref: OMIMPS:600462 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:600462", source="MONDO:equivalentTo"} xref: SCTID:724138007 {source="MONDO:equivalentTo"} @@ -10690,12 +10690,12 @@ synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus c xref: DOID:0060600 {source="MONDO:equivalentObsolete"} xref: DOID:0090003 {source="MONDO:equivalentTo"} xref: GARD:0001537 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="ORDO:1496/attributed", source="ORDO:1496/ntbt"} -xref: MESH:C536446 {source="ORDO:1496/e", source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo"} -xref: OMIM:218000 {source="ORDO:1496/e", source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:1496/attributed", source="Orphanet:1496/ntbt", source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003"} +xref: MESH:C536446 {source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo", source="Orphanet:1496/e"} +xref: OMIM:218000 {source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="Orphanet:1496/e"} xref: Orphanet:1496 {source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:218000"} xref: SCTID:702439002 {source="MONDO:equivalentTo"} -xref: UMLS:C0795950 {source="ORDO:1496/e", source="Orphanet:1496", source="NCBI:mim2gene_medline", source="DOID:0060600", source="MONDO:equivalentTo", source="OMIM:218000"} +xref: UMLS:C0795950 {source="Orphanet:1496", source="NCBI:mim2gene_medline", source="DOID:0060600", source="MONDO:equivalentTo", source="Orphanet:1496/e", source="OMIM:218000"} is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0019117 {source="MONDO:0017122-obsoleted"} ! genetic nervous system disorder is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis @@ -10724,13 +10724,13 @@ synonym: "myoclonus-dystonia" RELATED [GARD:0007139] synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096] xref: DOID:0090033 {source="MONDO:equivalentTo"} xref: GARD:0007139 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G24.1 {source="ORDO:36899/attributed", source="ORDO:36899/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:36899/attributed", source="Orphanet:36899/ntbt"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536096 {source="MONDO:equivalentTo", source="ORDO:36899/e"} -xref: OMIM:159900 {source="MEDIC:C536096", source="MONDO:superClassOf", source="ORDO:36899/e"} +xref: MESH:C536096 {source="MONDO:equivalentTo", source="Orphanet:36899/e"} +xref: OMIM:159900 {source="MEDIC:C536096", source="Orphanet:36899/e", source="MONDO:superClassOf"} xref: Orphanet:36899 {source="DOID:0090034", source="MONDO:equivalentTo", source="OMIM:159900"} xref: SCTID:439732004 {source="MONDO:equivalentTo"} -xref: UMLS:C1834570 {source="MONDO:equivalentTo", source="ORDO:36899/e"} +xref: UMLS:C1834570 {source="MONDO:equivalentTo", source="Orphanet:36899/e"} is_a: MONDO:0003441 {source="DOID:0090033", source="MESH:C536096", source="indirect", source="linkedlifedata"} ! dystonic disorder is_a: MONDO:0017651 {source="Orphanet:36899"} ! primary myoclonus is_a: MONDO:0018329 {source="Orphanet:36899"} ! persistent combined dystonia @@ -10786,7 +10786,7 @@ xref: ICD10CM:I42.8 {source="DOID:0110084"} xref: OMIM:615616 {source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:615616"} xref: UMLS:C3810138 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615616"} -is_a: MONDO:0016342 {source="DOID:0110084", source="MONDO:Redundant", source="OMIM:615616", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110084", source="MONDO:Redundant", source="OMIM:615616", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2511 ! CTNNA3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2511 {source="mim2gene_medgen"} ! CTNNA3 @@ -10857,8 +10857,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 5" NARROW [DOID:0110507] synonym: "autosomal recessive nonsyndromic deafness 5" NARROW [OMIM:600792] synonym: "autosomal recessive nonsyndromic deafness type 5" NARROW [DOID:0110507, MONDORULE:1] -synonym: "deafness, autosomal recessive 5" NARROW [MONDO:Lexical, OMIM:600792] -synonym: "deafness, autosomal recessive 5" NARROW [OMIM:600792, OMIM:genemap2] +synonym: "deafness, autosomal recessive 5" NARROW [MONDO:Lexical, OMIM:600792, OMIM:genemap2] synonym: "DFNB5" NARROW ABBREVIATION [DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792] synonym: "neurosensory nonsyndromic recessive deafness 5" NARROW [OMIM:600792] xref: DOID:0110507 {source="MONDO:equivalentTo"} @@ -10912,14 +10911,14 @@ synonym: "familial vascular leukoencephalopathy" RELATED [GARD:0001049] synonym: "hereditary multi-infarct dementia" EXACT [DOID:13945, Orphanet:136] xref: DOID:0111035 {source="MONDO:equivalentTo"} xref: GARD:0001049 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:F01.1 {source="Orphanet:136", source="DOID:0111035", source="ORDO:136/attributed", source="ORDO:136/ntbt"} -xref: MedDRA:10065551 {source="Orphanet:136", source="ORDO:136/e"} -xref: MESH:D046589 {source="DOID:13945", source="MONDO:equivalentTo", source="ORDO:136", source="ORDO:136/e"} +xref: ICD10CM:F01.1 {source="Orphanet:136", source="Orphanet:136/attributed", source="Orphanet:136/ntbt", source="DOID:0111035"} +xref: MedDRA:10065551 {source="Orphanet:136", source="Orphanet:136/e"} +xref: MESH:D046589 {source="Orphanet:136", source="DOID:13945", source="MONDO:equivalentTo", source="Orphanet:136/e"} xref: NCIT:C84606 {source="DOID:13945", source="MONDO:equivalentTo"} -xref: OMIM:125310 {source="Orphanet:136", source="MONDO:equivalentTo", source="ORDO:136/e", source="DOID:0111035"} +xref: OMIM:125310 {source="Orphanet:136", source="MONDO:equivalentTo", source="Orphanet:136/e", source="DOID:0111035"} xref: Orphanet:136 {source="OMIM:125310", source="MONDO:equivalentTo"} xref: SCTID:390936003 {source="DOID:13945", source="MONDO:equivalentTo"} -xref: UMLS:C0751587 {source="Orphanet:136", source="DOID:13945", source="OMIM:125310", source="MONDO:equivalentTo", source="NCIT:C84606", source="ORDO:136/e"} +xref: UMLS:C0751587 {source="Orphanet:136", source="DOID:13945", source="OMIM:125310", source="MONDO:equivalentTo", source="NCIT:C84606", source="Orphanet:136/e"} is_a: MONDO:0007432 {source="DOID:0111035", source="OMIM:125310"} ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy intersection_of: MONDO:0007432 ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7883 ! NOTCH3 @@ -10932,8 +10931,7 @@ name: intestinal infectious disease def: "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site] synonym: "bacterial enteritis" EXACT [DOID:100] xref: DOID:100 {source="MONDO:equivalentTo"} -xref: ICD10CM:A00-A09 {source="MONDO:equivalentTo", source="DOID:100"} -xref: ICD10CM:A00-A09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:A00-A09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:100", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:001-009.99 {source="DOID:100"} xref: ICD9:008.8 {source="MONDO:relatedTo", source="i2s"} xref: SCTID:127322007 {source="DOID:100"} @@ -11083,8 +11081,7 @@ synonym: "PID" EXACT ABBREVIATION [DOID:1003] synonym: "PID, pelvic inflammatory disease" RELATED [NCIT:C3889] xref: DOID:1003 {source="MONDO:equivalentTo"} xref: EFO:1001388 {source="MONDO:equivalentTo"} -xref: ICD10CM:N70-N77 {source="DOID:1003"} -xref: ICD10CM:N70-N77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:N70-N77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1003", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:N73.9 {source="DOID:1003"} xref: ICD9:614-616.99 {source="DOID:1003"} xref: ICD9:614.8 {source="MONDO:relatedTo", source="i2s"} @@ -13272,7 +13269,7 @@ xref: SCTID:204712000 {source="DOID:10488"} xref: SCTID:204731006 {source="DOID:10488", source="MONDO:equivalentTo"} xref: SCTID:204733009 {source="DOID:10488"} xref: UMLS:C0003466 {source="DOID:10488", source="OMIM:207500", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:301800", source="NCIT:C84784"} -is_a: MONDO:0018916 {source="ORDO:557/btnt"} ! isolated anorectal malformation +is_a: MONDO:0018916 {source="Orphanet:557/btnt"} ! isolated anorectal malformation relationship: disease_has_feature HP:0002023 ! Anal atresia relationship: disease_has_location UBERON:0001245 ! anus @@ -13734,7 +13731,6 @@ synonym: "mental retardation" RELATED DEPRECATED [ICD10CM:F70-F79] xref: DOID:1059 {source="MONDO:equivalentTo"} xref: EFO:0003847 {source="MONDO:equivalentTo"} xref: GARD:0011963 {source="MONDO:equivalentTo"} -xref: ICD10CM:F70-F79 {source="MONDO:equivalentTo"} xref: ICD10CM:F70-F79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:319 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D008607 {source="MONDO:equivalentTo"} @@ -15699,8 +15695,7 @@ synonym: "lens disorder" EXACT [NCIT:C26812] synonym: "lens of camera-type eye disease" EXACT [MONDO:patterns/location] synonym: "lens of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:110 {source="MONDO:equivalentTo"} -xref: ICD10CM:H25-H28 {source="DOID:110"} -xref: ICD10CM:H25-H28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:H25-H28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:110", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:H27.9 {source="DOID:110"} xref: ICD9:379.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D007905 {source="MONDO:equivalentTo", source="DOID:110"} @@ -16017,12 +16012,12 @@ synonym: "spotted fevers" RELATED [MESH:D000073605] xref: DOID:11104 {source="MONDO:equivalentTo"} xref: GARD:0004998 {source="MONDO:equivalentTo"} xref: ICD10CM:A77 {source="DOID:11104", source="MONDO:equivalentTo"} -xref: ICD10CM:A77.0 {source="ORDO:102022/btnt", source="Orphanet:102022"} -xref: ICD10CM:A77.1 {source="ORDO:102022/btnt", source="Orphanet:102022"} -xref: ICD10CM:A77.2 {source="ORDO:102022/btnt", source="Orphanet:102022"} -xref: ICD10CM:A77.3 {source="ORDO:102022/btnt", source="Orphanet:102022"} -xref: ICD10CM:A77.8 {source="ORDO:102022/btnt", source="Orphanet:102022"} -xref: ICD10CM:A77.9 {source="DOID:11104", source="ORDO:102022/btnt", source="Orphanet:102022"} +xref: ICD10CM:A77.0 {source="Orphanet:102022/btnt", source="Orphanet:102022"} +xref: ICD10CM:A77.1 {source="Orphanet:102022/btnt", source="Orphanet:102022"} +xref: ICD10CM:A77.2 {source="Orphanet:102022/btnt", source="Orphanet:102022"} +xref: ICD10CM:A77.3 {source="Orphanet:102022/btnt", source="Orphanet:102022"} +xref: ICD10CM:A77.8 {source="Orphanet:102022/btnt", source="Orphanet:102022"} +xref: ICD10CM:A77.9 {source="DOID:11104", source="Orphanet:102022/btnt", source="Orphanet:102022"} xref: ICD9:082.0 {source="DOID:11104", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:083.8 {source="MONDO:relatedTo", source="i2s"} xref: MEDGEN:11567 {source="UMLS:C0038041"} @@ -16927,11 +16922,11 @@ synonym: "Urban typhus" RELATED [DOID:11256] xref: DOID:11256 {source="MONDO:equivalentTo"} xref: GARD:0007833 {source="MONDO:equivalentTo"} xref: ICD10CM:A75 {source="DOID:11256"} -xref: ICD10CM:A75.0 {source="Orphanet:102023", source="ORDO:102023/btnt", source="DOID:11256"} -xref: ICD10CM:A75.1 {source="Orphanet:102023", source="ORDO:102023/btnt"} -xref: ICD10CM:A75.2 {source="Orphanet:102023", source="ORDO:102023/btnt", source="DOID:11256"} -xref: ICD10CM:A75.3 {source="Orphanet:102023", source="ORDO:102023/btnt"} -xref: ICD10CM:A75.9 {source="Orphanet:102023", source="ORDO:102023/btnt", source="DOID:11256"} +xref: ICD10CM:A75.0 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"} +xref: ICD10CM:A75.1 {source="Orphanet:102023", source="Orphanet:102023/btnt"} +xref: ICD10CM:A75.2 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"} +xref: ICD10CM:A75.3 {source="Orphanet:102023", source="Orphanet:102023/btnt"} +xref: ICD10CM:A75.9 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"} xref: ICD9:080 {source="DOID:11256"} xref: ICD9:081.0 {source="DOID:11256"} xref: ICD9:081.9 {source="DOID:11256"} @@ -16951,7 +16946,7 @@ xref: SCTID:83838002 {source="DOID:11256"} xref: UMLS:C0041471 {source="MONDO:equivalentTo", source="DOID:11256"} xref: UMLS:C0041472 {source="MONDO:equivalentTo", source="DOID:11256"} xref: UMLS:C0041473 {source="MONDO:notFoundInDiseaseSubset", source="DOID:11256"} -xref: UMLS:C0343758 {source="Orphanet:102023", source="MONDO:notFoundInDiseaseSubset", source="ORDO:102023/e"} +xref: UMLS:C0343758 {source="Orphanet:102023", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102023/e"} is_a: MONDO:0006956 {source="Orphanet:102023"} ! Rickettsiosis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_infectious_agent NCBITaxon:780 {source="Wikidata"} ! Rickettsia @@ -17538,19 +17533,19 @@ synonym: "posterior uveitis (disease)" EXACT [MONDO:0017254] xref: DOID:11406 {source="MONDO:equivalentTo"} xref: GARD:0006062 {source="shared-xref", source="MONDO:equivalentTo"} xref: HP:0012123 {source="MONDO:otherHierarchy"} -xref: ICD10CM:H30.0 {source="ORDO:280892/btnt", source="Orphanet:280892"} -xref: ICD10CM:H30.1 {source="ORDO:280892/btnt", source="Orphanet:280892"} -xref: ICD10CM:H30.2 {source="ORDO:280892/btnt", source="Orphanet:280892"} -xref: ICD10CM:H30.8 {source="ORDO:280892/btnt", source="Orphanet:280892"} -xref: ICD10CM:H30.9 {source="ORDO:280892/btnt", source="DOID:11406", source="Orphanet:280892"} -xref: MedDRA:10036370 {source="Orphanet:280892", source="ORDO:280892/e"} +xref: ICD10CM:H30.0 {source="Orphanet:280892", source="Orphanet:280892/btnt"} +xref: ICD10CM:H30.1 {source="Orphanet:280892", source="Orphanet:280892/btnt"} +xref: ICD10CM:H30.2 {source="Orphanet:280892", source="Orphanet:280892/btnt"} +xref: ICD10CM:H30.8 {source="Orphanet:280892", source="Orphanet:280892/btnt"} +xref: ICD10CM:H30.9 {source="DOID:11406", source="Orphanet:280892", source="Orphanet:280892/btnt"} +xref: MedDRA:10036370 {source="Orphanet:280892", source="Orphanet:280892/e"} xref: MESH:D002833 {source="DOID:11406", source="MONDO:equivalentTo"} xref: NCIT:C35111 {source="DOID:11406", source="MONDO:equivalentTo"} xref: Orphanet:280892 {source="MONDO:equivalentTo"} xref: SCTID:16553002 {source="DOID:11406", source="MONDO:equivalentTo"} xref: SCTID:193449000 {source="DOID:11406"} xref: UMLS:C0008526 {source="DOID:11406", source="MONDO:equivalentTo", source="Orphanet:280892"} -xref: UMLS:C0042167 {source="NCIT:C35111", source="MONDO:equivalentTo", source="Orphanet:280892", source="ORDO:280892/e"} +xref: UMLS:C0042167 {source="NCIT:C35111", source="MONDO:equivalentTo", source="Orphanet:280892", source="Orphanet:280892/e"} is_a: MONDO:0001898 {source="DOID:11406", source="MESH:D002833", source="MONDO:Redundant", source="linkedlifedata"} ! optic choroid disorder is_a: MONDO:0020283 {source="MESH:D002833/inferred", source="MONDO:Redundant", source="NCIT:C35111", source="Orphanet:280892", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveitis intersection_of: MONDO:0000001 ! disease or disorder @@ -18367,11 +18362,11 @@ synonym: "penile neoplasm" BROAD [DOID:11615] synonym: "penis cancer" EXACT [MONDO:patterns/location] xref: DOID:11615 {source="MONDO:equivalentTo"} xref: ICD10CM:C60 {source="DOID:11615"} -xref: ICD10CM:C60.0 {source="ORDO:398043/ntbt", source="Orphanet:398043"} -xref: ICD10CM:C60.1 {source="ORDO:398043/ntbt", source="Orphanet:398043"} -xref: ICD10CM:C60.2 {source="DOID:11615", source="ORDO:398043/ntbt", source="Orphanet:398043"} -xref: ICD10CM:C60.8 {source="ORDO:398043/ntbt", source="Orphanet:398043"} -xref: ICD10CM:C60.9 {source="DOID:11615", source="ORDO:398043/ntbt", source="Orphanet:398043"} +xref: ICD10CM:C60.0 {source="Orphanet:398043/ntbt", source="Orphanet:398043"} +xref: ICD10CM:C60.1 {source="Orphanet:398043/ntbt", source="Orphanet:398043"} +xref: ICD10CM:C60.2 {source="DOID:11615", source="Orphanet:398043/ntbt", source="Orphanet:398043"} +xref: ICD10CM:C60.8 {source="Orphanet:398043/ntbt", source="Orphanet:398043"} +xref: ICD10CM:C60.9 {source="DOID:11615", source="Orphanet:398043/ntbt", source="Orphanet:398043"} xref: ICD9:187.3 {source="DOID:11615"} xref: ICD9:187.4 {source="DOID:11615", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D010412 {source="MONDO:subClassOf", source="DOID:11615"} @@ -18767,18 +18762,18 @@ synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [DOID:11727] synonym: "Landouzy-Dejerine myopathy" EXACT [Orphanet:269] synonym: "muscular dystrophy, Landouzy-Dejerine" EXACT [DOID:11727] xref: DOID:11727 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:269", source="ORDO:269/inclusion", source="DOID:11727", source="ORDO:269/ntbt"} -xref: MedDRA:10064087 {source="Orphanet:269", source="ORDO:269/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:269", source="Orphanet:269/ntbt", source="DOID:11727", source="Orphanet:269/inclusion"} +xref: MedDRA:10064087 {source="Orphanet:269", source="Orphanet:269/e"} xref: MESH:D020391 {source="DOID:11727", source="MONDO:equivalentTo"} xref: NCIT:C84704 {source="DOID:11727", source="MONDO:equivalentTo"} -xref: OMIM:158900 {source="Orphanet:269", source="DOID:11727", source="MONDO:superClassOf", source="ORDO:269/btnt"} -xref: OMIM:158901 {source="Orphanet:269", source="DOID:11727", source="MONDO:superClassOf", source="ORDO:269/btnt"} -xref: OMIM:600416 {source="Orphanet:269", source="MONDO:superClassOf", source="ORDO:269/btnt"} +xref: OMIM:158900 {source="Orphanet:269", source="Orphanet:269/btnt", source="DOID:11727", source="MONDO:superClassOf"} +xref: OMIM:158901 {source="Orphanet:269", source="Orphanet:269/btnt", source="DOID:11727", source="MONDO:superClassOf"} +xref: OMIM:600416 {source="Orphanet:269", source="Orphanet:269/btnt", source="MONDO:superClassOf"} xref: OMIMPS:158900 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="MONDO:equivalentTo"} xref: SCTID:399091004 {source="DOID:11727", source="MONDO:equivalentTo"} xref: SCTID:56096001 {source="DOID:11727"} -xref: UMLS:C0238288 {source="Orphanet:269", source="NCIT:C84704", source="DOID:11727", source="MONDO:notFoundInDiseaseSubset", source="ORDO:269/e"} +xref: UMLS:C0238288 {source="Orphanet:269", source="NCIT:C84704", source="DOID:11727", source="Orphanet:269/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016106 {source="Orphanet:269"} ! progressive muscular dystrophy is_a: MONDO:0020121 {source="DOID:11727", source="MESH:D020391", source="NCIT:C84704", source="Orphanet:269/inferred"} ! muscular dystrophy is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome @@ -20446,15 +20441,15 @@ synonym: "Trypanosoma cruzi infectious disease" EXACT [] xref: DOID:12140 {source="MONDO:equivalentTo"} xref: EFO:0008559 {source="MONDO:equivalentTo"} xref: ICD10CM:B57 {source="MONDO:equivalentTo"} -xref: ICD10CM:B57.0 {source="Orphanet:3386", source="ORDO:3386/btnt"} -xref: ICD10CM:B57.1 {source="Orphanet:3386", source="ORDO:3386/btnt"} -xref: ICD10CM:B57.2 {source="Orphanet:3386", source="ORDO:3386/btnt"} -xref: ICD10CM:B57.3 {source="Orphanet:3386", source="ORDO:3386/btnt"} -xref: ICD10CM:B57.4 {source="Orphanet:3386", source="ORDO:3386/btnt"} -xref: ICD10CM:B57.5 {source="Orphanet:3386", source="ORDO:3386/btnt"} +xref: ICD10CM:B57.0 {source="Orphanet:3386", source="Orphanet:3386/btnt"} +xref: ICD10CM:B57.1 {source="Orphanet:3386", source="Orphanet:3386/btnt"} +xref: ICD10CM:B57.2 {source="Orphanet:3386", source="Orphanet:3386/btnt"} +xref: ICD10CM:B57.3 {source="Orphanet:3386", source="Orphanet:3386/btnt"} +xref: ICD10CM:B57.4 {source="Orphanet:3386", source="Orphanet:3386/btnt"} +xref: ICD10CM:B57.5 {source="Orphanet:3386", source="Orphanet:3386/btnt"} xref: ICD9:086.2 {source="DOID:12140"} xref: KEGG:05142 {source="MONDO:relatedTo", source="DOID:12140"} -xref: MedDRA:10001935 {source="Orphanet:3386", source="ORDO:3386/e"} +xref: MedDRA:10001935 {source="Orphanet:3386", source="Orphanet:3386/e"} xref: MESH:D014355 {source="MONDO:equivalentTo"} xref: NCIT:C84629 {source="MONDO:equivalentTo"} xref: Orphanet:3386 {source="MONDO:equivalentTo"} @@ -20463,7 +20458,7 @@ xref: SCTID:54570006 {source="DOID:12140"} xref: SCTID:77506005 {source="MONDO:equivalentTo"} xref: SCTID:94371000119107 {source="DOID:12140"} xref: UMLS:C0007932 {source="DOID:12140", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0041234 {source="Orphanet:3386", source="MONDO:equivalentTo", source="NCIT:C84629", source="ORDO:3386/e"} +xref: UMLS:C0041234 {source="Orphanet:3386", source="MONDO:equivalentTo", source="NCIT:C84629", source="Orphanet:3386/e"} xref: UMLS:C0153125 {source="MONDO:equivalentTo"} xref: UMLS:C0348781 {source="MONDO:equivalentTo"} xref: UMLS:C0348782 {source="MONDO:equivalentTo"} @@ -20986,14 +20981,14 @@ xref: ICD10CM:Q13.0 {source="DOID:12270"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D003103 {source="DOID:12270", source="MONDO:equivalentTo"} xref: NCIT:C98877 {source="DOID:12270", source="MONDO:equivalentTo"} -xref: OMIM:120200 {source="DOID:12270", source="MONDO:superClassOf", source="ORDO:194/btnt", source="Orphanet:194"} +xref: OMIM:120200 {source="DOID:12270", source="MONDO:superClassOf", source="Orphanet:194", source="Orphanet:194/btnt"} xref: OMIM:120300 {source="DOID:12270", source="MONDO:superClassOf"} -xref: OMIM:216820 {source="DOID:12270", source="MONDO:superClassOf", source="ORDO:194/btnt", source="Orphanet:194"} +xref: OMIM:216820 {source="DOID:12270", source="MONDO:superClassOf", source="Orphanet:194", source="Orphanet:194/btnt"} xref: Orphanet:194 {source="MONDO:equivalentObsolete"} xref: Orphanet:98945 {source="DOID:12270", source="MONDO:superClassOf"} xref: SCTID:92828000 {source="DOID:12270"} xref: SCTID:93390002 {source="DOID:12270", source="MONDO:equivalentTo"} -xref: UMLS:C0009363 {source="DOID:12270", source="ORDO:194/e", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C98877", source="ORDO:194"} +xref: UMLS:C0009363 {source="DOID:12270", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:194", source="NCIT:C98877", source="Orphanet:194/e"} is_a: MONDO:0005328 {source="DOID:12270", source="MESH:D003103/inferred", source="NCIT:C98877/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disorder relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:194"} ! non-syndromic developmental defect of the eye @@ -22560,8 +22555,8 @@ xref: CSP:2012-6947 {source="DOID:12689"} xref: DOID:12689 {source="MONDO:equivalentTo"} xref: GARD:0000223 {source="MONDO:equivalentTo"} xref: HP:0009588 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D33.3 {source="ORDO:252175/e", source="Orphanet:252175"} -xref: MedDRA:10000523 {source="ORDO:252175/e", source="Orphanet:252175"} +xref: ICD10CM:D33.3 {source="Orphanet:252175", source="Orphanet:252175/e"} +xref: MedDRA:10000523 {source="Orphanet:252175", source="Orphanet:252175/e"} xref: MESH:D009464 {source="DOID:12689", source="MONDO:equivalentTo"} xref: NCIT:C3276 {source="DOID:12689", source="MONDO:equivalentTo"} xref: Orphanet:252175 {source="MONDO:equivalentTo"} @@ -22570,7 +22565,7 @@ xref: SCTID:154621002 {source="DOID:12689"} xref: SCTID:269643009 {source="DOID:12689"} xref: SCTID:389982003 {source="DOID:12689"} xref: SCTID:985004 {source="DOID:12689"} -xref: UMLS:C0027859 {source="DOID:12689", source="ORDO:252175/e", source="Orphanet:252175", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3276"} +xref: UMLS:C0027859 {source="DOID:12689", source="Orphanet:252175", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3276", source="Orphanet:252175/e"} is_a: MONDO:0002546 {source="DOID:12689", source="NCIT:C3276", source="Orphanet:252175", source="linkedlifedata"} ! schwannoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4201 property_value: IAO:0000589 "vestibular schwannoma (disease)" xsd:string @@ -22844,19 +22839,19 @@ synonym: "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis typ synonym: "severe MPS I (subtype, also known as Hurler syndrome)" RELATED [GARD:0010335] xref: DOID:12802 {source="MONDO:equivalentTo"} xref: GARD:0010335 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E76.0 {source="ORDO:579/e", source="Orphanet:579", source="ORDO:579/specific", source="DOID:12802"} -xref: MedDRA:10056886 {source="ORDO:579/e", source="Orphanet:579"} -xref: MESH:D008059 {source="ORDO:579/e", source="Orphanet:579", source="DOID:12802"} +xref: ICD10CM:E76.0 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e", source="Orphanet:579/specific"} +xref: MedDRA:10056886 {source="Orphanet:579", source="Orphanet:579/e"} +xref: MESH:D008059 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e"} xref: NCIT:C85053 {source="DOID:12802", source="MONDO:equivalentTo"} -xref: OMIM:607014 {source="Orphanet:579", source="DOID:12802", source="MONDO:superClassOf", source="ORDO:579/btnt"} -xref: OMIM:607015 {source="Orphanet:579", source="DOID:12802", source="MONDO:superClassOf", source="ORDO:579/btnt"} -xref: OMIM:607016 {source="Orphanet:579", source="DOID:12802", source="MONDO:superClassOf", source="ORDO:579/btnt"} +xref: OMIM:607014 {source="Orphanet:579", source="Orphanet:579/btnt", source="DOID:12802", source="MONDO:superClassOf"} +xref: OMIM:607015 {source="Orphanet:579", source="Orphanet:579/btnt", source="DOID:12802", source="MONDO:superClassOf"} +xref: OMIM:607016 {source="Orphanet:579", source="Orphanet:579/btnt", source="DOID:12802", source="MONDO:superClassOf"} xref: Orphanet:579 {source="MONDO:equivalentTo"} xref: SCTID:190938004 {source="DOID:12802"} xref: SCTID:267453008 {source="DOID:12802"} xref: SCTID:75610003 {source="DOID:12802", source="MONDO:equivalentTo"} -xref: UMLS:C0023786 {source="ORDO:579/e", source="Orphanet:579", source="DOID:12802", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2713321 {source="ORDO:579/e", source="Orphanet:579", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0023786 {source="Orphanet:579", source="DOID:12802", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:579/e"} +xref: UMLS:C2713321 {source="Orphanet:579", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:579/e"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019058 {source="Orphanet:579"} ! neurometabolic disease @@ -23004,18 +22999,18 @@ synonym: "hereditary progressive chorea without dementia" NARROW [OMIM:118700] xref: DOID:12859 {source="MONDO:equivalentTo"} xref: EFO:0004152 {source="MONDO:equivalentTo"} xref: HP:0002072 {source="MONDO:otherHierarchy"} -xref: ICD10CM:G25.5 {source="ORDO:1429/attributed", source="ORDO:1429/ntbt", source="DOID:12859", source="Orphanet:1429"} +xref: ICD10CM:G25.5 {source="DOID:12859", source="Orphanet:1429/attributed", source="Orphanet:1429/ntbt", source="Orphanet:1429"} xref: ICD9:333.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D002819 {source="MONDO:equivalentTo", source="EFO:0004152"} xref: NCIT:C84633 {source="MONDO:equivalentTo", source="EFO:0004152"} -xref: OMIM:118700 {source="DOID:12859", source="MONDO:superClassOf", source="ORDO:1429/e", source="EFO:0004152", source="Orphanet:1429"} -xref: OMIM:215450 {source="ORDO:1429/btnt", source="DOID:12859", source="MONDO:superClassOf", source="Orphanet:1429"} +xref: OMIM:118700 {source="Orphanet:1429/e", source="DOID:12859", source="MONDO:superClassOf", source="EFO:0004152", source="Orphanet:1429"} +xref: OMIM:215450 {source="DOID:12859", source="MONDO:superClassOf", source="Orphanet:1429/btnt", source="Orphanet:1429"} xref: Orphanet:1429 {source="MONDO:equivalentTo", source="DOID:12859", source="OMIM:118700"} xref: SCTID:230298007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:230306001 {source="MONDO:equivalentTo"} xref: SCTID:271700006 {source="EFO:0004152"} xref: UMLS:C0008489 {source="NCIT:C84633", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0393584 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:118700", source="ORDO:1429/e", source="Orphanet:1429"} +xref: UMLS:C0393584 {source="Orphanet:1429/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:118700", source="Orphanet:1429"} xref: UMLS:C1859098 {source="MONDO:superClassOf", source="Orphanet:1429"} is_a: MONDO:0005395 {source="DOID:12859", source="HP:0002072", source="MESH:D002819/inferred", source="MONDO:Redundant", source="NCIT:C84633", source="Orphanet:1429/inferred"} ! movement disorder relationship: disease_has_major_feature HP:0002072 ! Chorea @@ -24743,7 +24738,7 @@ synonym: "color-vision disease" EXACT [MONDO:0020239] synonym: "colour blindness" EXACT [DOID:13399] synonym: "colour vision deficiency" EXACT [DOID:13399] xref: DOID:13399 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.5 {source="Orphanet:98658", source="ORDO:98658/attributed", source="ORDO:98658/ntbt", source="DOID:13399"} +xref: ICD10CM:H53.5 {source="Orphanet:98658", source="DOID:13399", source="Orphanet:98658/attributed", source="Orphanet:98658/ntbt"} xref: ICD10CM:H53.50 {source="DOID:13399"} xref: ICD9:368.5 {source="DOID:13399"} xref: ICD9:368.59 {source="MONDO:relatedTo", source="i2s"} @@ -24951,7 +24946,7 @@ synonym: "hypoplastic anemia - familial" RELATED [] synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383] xref: DOID:1342 {source="MONDO:equivalentTo"} xref: GARD:0006149 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="ORDO:68383/attributed", source="ORDO:68383/ntbt", source="Orphanet:68383"} +xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="Orphanet:68383", source="Orphanet:68383/attributed", source="Orphanet:68383/ntbt"} xref: ICD10CM:D61.01 {source="DOID:1342"} xref: ICD9:284.0 {source="DOID:1342", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:284.09 {source="MONDO:relatedTo", source="i2s"} @@ -26502,10 +26497,10 @@ synonym: "mixed hyperlipidemia" EXACT [DOID:13809, ICD9CM:272.2, NCIT:C34821, Or synonym: "mixed hyperlipoproteinemia" EXACT [Orphanet:79211] synonym: "type IIb hyperlipoproteinemia" NARROW [DOID:13809, NCIT:C34708] xref: DOID:13809 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E78.2 {source="ORDO:79211/e", source="ORDO:79211/specific", source="Orphanet:79211"} +xref: ICD10CM:E78.2 {source="Orphanet:79211/specific", source="Orphanet:79211/e", source="Orphanet:79211"} xref: ICD10CM:E78.4 {source="DOID:13809"} xref: ICD9:272.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10027763 {source="ORDO:79211/e", source="Orphanet:79211"} +xref: MedDRA:10027763 {source="Orphanet:79211/e", source="Orphanet:79211"} xref: MESH:D006950 {source="MONDO:obsoleteEquivalent", source="DOID:13809"} xref: OMIM:144250 {source="MONDO:superClassOf", source="DOID:13809"} xref: Orphanet:79211 {source="MONDO:obsoleteEquivalent"} @@ -26620,8 +26615,7 @@ replaced_by: MONDO:0011827 id: MONDO:0001815 name: extrapyramidal and movement disease xref: DOID:13839 {source="MONDO:equivalentTo"} -xref: ICD10CM:G20-G26 {source="DOID:13839"} -xref: ICD10CM:G20-G26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:G20-G26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:13839", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G25.9 {source="DOID:13839"} xref: ICD9:333.90 {source="DOID:13839"} xref: SCTID:192866001 {source="DOID:13839"} @@ -27710,7 +27704,7 @@ synonym: "TSS" EXACT ABBREVIATION [DOID:14115] synonym: "TSS, toxic shock syndrome" EXACT [NCIT:C35498] xref: DOID:14115 {source="MONDO:equivalentTo"} xref: GARD:0009560 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:A48.3 {source="MONDO:equivalentTo", source="ORDO:36234/e", source="DOID:14115", source="Orphanet:36234"} +xref: ICD10CM:A48.3 {source="Orphanet:36234/e", source="MONDO:equivalentTo", source="DOID:14115", source="Orphanet:36234"} xref: ICD9:040.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:14115"} xref: MESH:D012772 {source="MONDO:equivalentTo", source="DOID:14115"} xref: NCIT:C35498 {source="MONDO:equivalentTo", source="DOID:14115"} @@ -28698,7 +28692,7 @@ synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898] synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974] xref: DOID:14332 {source="MONDO:equivalentTo"} xref: EFO:1001402 {source="MONDO:equivalentTo"} -xref: ICD10CM:G21.3 {source="ORDO:97349/e", source="Orphanet:97349", source="DOID:14332"} +xref: ICD10CM:G21.3 {source="Orphanet:97349", source="DOID:14332", source="Orphanet:97349/e"} xref: MESH:D010301 {source="MONDO:equivalentTo", source="DOID:14332"} xref: NCIT:C34898 {source="MONDO:equivalentTo", source="DOID:14332"} xref: Orphanet:97349 {source="MONDO:equivalentTo"} @@ -28885,14 +28879,14 @@ synonym: "SCLS" EXACT ABBREVIATION [Orphanet:188] synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996] xref: DOID:14400 {source="MONDO:equivalentTo"} xref: GARD:0001084 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I78.8 {source="ORDO:188/ntbt", source="Orphanet:188"} +xref: ICD10CM:I78.8 {source="Orphanet:188/ntbt", source="Orphanet:188"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10007196 {source="ORDO:188/e", source="Orphanet:188"} -xref: MESH:D019559 {source="MONDO:equivalentTo", source="ORDO:188/e", source="Orphanet:188", source="DOID:14400"} +xref: MedDRA:10007196 {source="Orphanet:188/e", source="Orphanet:188"} +xref: MESH:D019559 {source="Orphanet:188/e", source="MONDO:equivalentTo", source="Orphanet:188", source="DOID:14400"} xref: NCIT:C62578 {source="MONDO:equivalentTo", source="DOID:14400"} xref: Orphanet:188 {source="MONDO:equivalentTo"} xref: SCTID:87730004 {source="MONDO:equivalentTo", source="DOID:14400"} -xref: UMLS:C0343084 {source="NCIT:C62578", source="MONDO:equivalentTo", source="ORDO:188/e", source="Orphanet:188", source="DOID:14400"} +xref: UMLS:C0343084 {source="NCIT:C62578", source="Orphanet:188/e", source="MONDO:equivalentTo", source="Orphanet:188", source="DOID:14400"} is_a: MONDO:0001574 {source="DOID:14400", source="linkedlifedata"} ! capillary disorder is_a: MONDO:0002254 {source="NCIT:C62578"} ! syndromic disease @@ -29061,16 +29055,16 @@ synonym: "farmer's lung" EXACT [MONDO:0020534] synonym: "Farmers lung" EXACT [DOID:14453] xref: DOID:14453 {source="MONDO:equivalentTo"} xref: GARD:0006427 {source="MONDO:equivalentTo"} -xref: ICD10CM:J67.0 {source="ORDO:99906/e", source="Orphanet:99906", source="DOID:14453"} +xref: ICD10CM:J67.0 {source="Orphanet:99906/e", source="Orphanet:99906", source="DOID:14453"} xref: ICD9:495.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:14453"} -xref: MedDRA:10016221 {source="ORDO:99906/e", source="Orphanet:99906"} -xref: MESH:D005203 {source="ORDO:99906/e", source="Orphanet:99906", source="DOID:14453"} +xref: MedDRA:10016221 {source="Orphanet:99906/e", source="Orphanet:99906"} +xref: MESH:D005203 {source="Orphanet:99906/e", source="Orphanet:99906", source="DOID:14453"} xref: NCIT:C34605 {source="MONDO:equivalentTo", source="DOID:14453"} xref: Orphanet:99906 {source="MONDO:equivalentTo"} xref: SCTID:155581001 {source="DOID:14453"} xref: SCTID:18690003 {source="MONDO:equivalentTo", source="DOID:14453"} xref: SCTID:266399001 {source="DOID:14453"} -xref: UMLS:C0015634 {source="NCIT:C34605", source="MONDO:equivalentTo", source="ORDO:99906/e", source="Orphanet:99906", source="DOID:14453"} +xref: UMLS:C0015634 {source="Orphanet:99906/e", source="NCIT:C34605", source="MONDO:equivalentTo", source="Orphanet:99906", source="DOID:14453"} is_a: MONDO:0004553 {source="DOID:14453", source="MONDO:Redundant"} ! extrinsic allergic alveolitis is_a: MONDO:0020537 {source="Orphanet:99906"} ! occupational allergic alveolitis is_a: MONDO:0043905 {source="NCIT:C34605", source="indirect", source="linkedlifedata/inferred"} ! pneumonitis @@ -29808,7 +29802,7 @@ synonym: "lymphangioma" EXACT [NCIT:C8965, Orphanet:2415] synonym: "lymphangioma, benign" EXACT [NCIT:C8965] xref: DOID:1475 {source="MONDO:equivalentTo"} xref: GARD:0009789 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.1 {source="DOID:1475", source="ORDO:2415/e", source="Orphanet:2415"} +xref: ICD10CM:D18.1 {source="DOID:1475", source="Orphanet:2415", source="Orphanet:2415/e"} xref: ICD9:228.1 {source="DOID:1475", source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9170/0 {source="NCIT:C8965"} xref: MESH:D008202 {source="DOID:1475", source="MONDO:equivalentTo"} @@ -30328,8 +30322,7 @@ synonym: "infections, Fungi" RELATED [MONDO:patterns/infectious_disease_by_agent synonym: "mycoses" RELATED [DOID:1564] synonym: "mycosis" EXACT [DOID:1564] xref: DOID:1564 {source="MONDO:equivalentTo"} -xref: ICD10CM:B35-B49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:B35-B49 {source="DOID:1564", source="MONDO:equivalentTo"} +xref: ICD10CM:B35-B49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1564", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:B49 {source="DOID:1564"} xref: ICD9:110-118.99 {source="DOID:1564"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"} @@ -32349,11 +32342,11 @@ xref: DOID:1907 {source="MONDO:equivalentTo"} xref: EFO:1001972 {source="MONDO:equivalentTo"} xref: GARD:0006963 {source="MONDO:equivalentTo"} xref: HGNC:16982 {source="GARD:0006963"} -xref: ICD10CM:C49.9 {source="Orphanet:2023", source="ORDO:2023/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:2023", source="Orphanet:2023/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8830/3 {source="NCIT:C4247"} -xref: MedDRA:10025552 {source="Orphanet:2023", source="ORDO:2023/e"} -xref: MESH:D051677 {source="Orphanet:2023", source="ORDO:2023/e", source="DOID:1907", source="MONDO:equivalentTo"} +xref: MedDRA:10025552 {source="Orphanet:2023", source="Orphanet:2023/e"} +xref: MESH:D051677 {source="Orphanet:2023", source="DOID:1907", source="MONDO:equivalentTo", source="Orphanet:2023/e"} xref: NCIT:C114541 {source="MONDO:equivalentTo"} xref: NCIT:C4247 {source="DOID:1907", source="MONDO:equivalentTo"} xref: ONCOTREE:MFH {source="MONDO:equivalentTo"} @@ -32363,7 +32356,7 @@ xref: SCTID:253040001 {source="DOID:1907"} xref: SCTID:34360000 {source="DOID:1907"} xref: SCTID:443439001 {source="DOID:1907", source="MONDO:equivalentTo"} xref: UMLS:C0279546 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C114541"} -xref: UMLS:C0334463 {source="Orphanet:2023", source="ORDO:2023/e", source="DOID:1907", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4247"} +xref: UMLS:C0334463 {source="Orphanet:2023", source="DOID:1907", source="Orphanet:2023/e", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4247"} is_a: MONDO:0005509 {source="DOID:1907", source="MESH:D051677"} ! histiocytoma is_a: MONDO:0018078 {source="EFO:1001972", source="NCIT:C114541/inferred", source="NCIT:C4247/inferred", source="Orphanet:2023"} ! soft tissue sarcoma is_a: MONDO:0021054 {source="Orphanet:2023"} ! bone sarcoma @@ -32431,12 +32424,12 @@ synonym: "sex differentiation disorder" EXACT [DOID:1923] synonym: "sexual differentiation disorder" EXACT [NCIT:C103186] xref: DOID:1923 {source="MONDO:equivalentTo"} xref: GTR:AN1172969 {source="UMLS:CN757797"} -xref: MedDRA:10070597 {source="ORDO:90771/e", source="Orphanet:90771"} -xref: MESH:D012734 {source="ORDO:90771/e", source="MONDO:equivalentTo", source="Orphanet:90771", source="DOID:1923"} +xref: MedDRA:10070597 {source="Orphanet:90771", source="Orphanet:90771/e"} +xref: MESH:D012734 {source="MONDO:equivalentTo", source="Orphanet:90771", source="DOID:1923", source="Orphanet:90771/e"} xref: NCIT:C103186 {source="MONDO:equivalentTo"} xref: Orphanet:90771 {source="MONDO:equivalentTo"} xref: SCTID:39179006 {source="MONDO:equivalentTo"} -xref: UMLS:C0036875 {source="ORDO:90771/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90771", source="DOID:1923"} +xref: UMLS:C0036875 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90771", source="DOID:1923", source="Orphanet:90771/e"} xref: UMLS:C2930619 {source="NCIT:C103186", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN757797 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:90771"} ! disease or disorder @@ -32660,9 +32653,9 @@ synonym: "tumor of the fallopian tube" BROAD [DOID:1964, NCIT:C3032] synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480] xref: DOID:1964 {source="MONDO:equivalentTo"} xref: GARD:0009162 {source="MONDO:equivalentTo"} -xref: ICD10CM:C57.0 {source="DOID:1964", source="Orphanet:180242", source="ORDO:180242/e"} +xref: ICD10CM:C57.0 {source="DOID:1964", source="Orphanet:180242", source="Orphanet:180242/e"} xref: ICD9:183.2 {source="MONDO:equivalentTo", source="DOID:1964", source="i2s"} -xref: MedDRA:10025915 {source="Orphanet:180242", source="ORDO:180242/e"} +xref: MedDRA:10025915 {source="Orphanet:180242", source="Orphanet:180242/e"} xref: MESH:D005185 {source="DOID:1964"} xref: NCIT:C3032 {source="MONDO:subClassOf", source="DOID:1964"} xref: NCIT:C7480 {source="MONDO:equivalentTo", source="DOID:1964"} @@ -32671,7 +32664,7 @@ xref: SCTID:126916003 {source="MONDO:subClassOf", source="DOID:1964"} xref: SCTID:363444001 {source="MONDO:equivalentTo", source="DOID:1964"} xref: SCTID:93794008 {source="DOID:1964"} xref: UMLS:C0015558 {source="MONDO:subClassOf", source="DOID:1964"} -xref: UMLS:C0153579 {source="MONDO:equivalentTo", source="DOID:1964", source="Orphanet:180242", source="ORDO:180242/e", source="NCIT:C7480"} +xref: UMLS:C0153579 {source="MONDO:equivalentTo", source="DOID:1964", source="Orphanet:180242", source="NCIT:C7480", source="Orphanet:180242/e"} xref: UMLS:C0238122 {source="MONDO:superClassOf", source="Orphanet:180242"} xref: UMLS:CN200469 {source="MONDO:equivalentTo"} is_a: MONDO:0001416 {source="DOID:1964", source="MONDO:Redundant", source="NCIT:C7480", source="linkedlifedata/inferred"} ! female reproductive organ cancer @@ -37376,18 +37369,18 @@ synonym: "inborn glycogen storage disorder" EXACT [] synonym: "rare inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050728 {source="MONDO:equivalentTo"} xref: DOID:2747 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: ICD10CM:E74.0 {source="MONDO:equivalentTo", source="DOID:2747", source="ORDO:79201/specific", source="ORDO:79201/e", source="Orphanet:79201"} +xref: ICD10CM:E74.0 {source="Orphanet:79201/e", source="Orphanet:79201/specific", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"} xref: ICD10CM:E74.00 {source="DOID:2747"} xref: ICD9:271.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:2747"} -xref: MedDRA:10061990 {source="ORDO:79201/e", source="Orphanet:79201"} -xref: MESH:D006008 {source="MONDO:equivalentTo", source="DOID:2747", source="ORDO:79201/e", source="Orphanet:79201"} +xref: MedDRA:10061990 {source="Orphanet:79201/e", source="Orphanet:79201"} +xref: MESH:D006008 {source="Orphanet:79201/e", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"} xref: NCIT:C61272 {source="MONDO:equivalentTo", source="DOID:2747"} xref: Orphanet:79201 {source="MONDO:equivalentTo"} xref: SCTID:154738008 {source="DOID:2747"} xref: SCTID:190744005 {source="DOID:2747"} xref: SCTID:267498002 {source="DOID:2747"} xref: SCTID:29633007 {source="MONDO:equivalentTo", source="DOID:2747"} -xref: UMLS:C0017919 {source="MONDO:equivalentTo", source="NCIT:C61272", source="DOID:2747", source="ORDO:79201/e", source="Orphanet:79201"} +xref: UMLS:C0017919 {source="Orphanet:79201/e", source="MONDO:equivalentTo", source="NCIT:C61272", source="DOID:2747", source="Orphanet:79201"} is_a: MONDO:0019052 {source="DOID:0050728/inferred", source="DOID:2747/inferred", source="MESH:D006008/inferred", source="MONDO:Redundant", source="NCIT:C61272", source="Orphanet:79201/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism is_a: MONDO:0019214 {source="DOID:0050728", source="DOID:2747/inferred", source="MESH:D006008", source="MONDO:Redundant", source="Orphanet:79201"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0037792 {source="indirect", source="linkedlifedata"} ! carbohydrate metabolism disease @@ -37419,20 +37412,20 @@ synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364] synonym: "von Gierke disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] synonym: "von Gierke's disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/] xref: DOID:2749 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:364/inclusion", source="ORDO:364/ntbt", source="Orphanet:364"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:364/ntbt", source="Orphanet:364/inclusion", source="Orphanet:364"} xref: ICD10CM:E74.01 {source="MONDO:equivalentTo", source="DOID:2749"} -xref: MedDRA:10018464 {source="ORDO:364/e", source="Orphanet:364"} +xref: MedDRA:10018464 {source="Orphanet:364/e", source="Orphanet:364"} xref: MESH:D005953 {source="MONDO:equivalentTo", source="DOID:2749", source="MONDO:directSiblingOf"} xref: NCIT:C84733 {source="MONDO:equivalentTo", source="DOID:2749"} -xref: OMIM:232200 {source="ORDO:364/btnt", source="MONDO:superClassOf", source="DOID:2749", source="Orphanet:364"} -xref: OMIM:232220 {source="ORDO:364/btnt", source="MONDO:superClassOf", source="DOID:2749", source="Orphanet:364"} -xref: OMIM:232240 {source="ORDO:364/btnt", source="MONDO:superClassOf", source="DOID:2749", source="Orphanet:364"} +xref: OMIM:232200 {source="MONDO:superClassOf", source="Orphanet:364/btnt", source="DOID:2749", source="Orphanet:364"} +xref: OMIM:232220 {source="MONDO:superClassOf", source="Orphanet:364/btnt", source="DOID:2749", source="Orphanet:364"} +xref: OMIM:232240 {source="MONDO:superClassOf", source="Orphanet:364/btnt", source="DOID:2749", source="Orphanet:364"} xref: Orphanet:364 {source="MONDO:equivalentTo"} xref: SCTID:124437004 {source="DOID:2749"} xref: SCTID:154738008 {source="DOID:2749"} xref: SCTID:267498002 {source="DOID:2749"} xref: SCTID:7265005 {source="MONDO:equivalentTo", source="DOID:2749"} -xref: UMLS:C0017920 {source="NCIT:C84733", source="MONDO:notFoundInDiseaseSubset", source="ORDO:364/e", source="DOID:2749", source="Orphanet:364"} +xref: UMLS:C0017920 {source="NCIT:C84733", source="Orphanet:364/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:2749", source="Orphanet:364"} xref: UMLS:C2919796 {source="MONDO:superClassOf", source="Orphanet:364"} is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="ICD10CM:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0005066 {source="Orphanet:364"} ! metabolic disease @@ -37586,20 +37579,20 @@ synonym: "Extragnathic adamantinoma" EXACT [NCIT:C7644] synonym: "long bone adamantinoma" EXACT [MONDO:0007063, MONDO:patterns/location] xref: DOID:2775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:2776 {source="MONDO:equivalentTo"} -xref: ICD10CM:C40.2 {source="ORDO:55881/ntbt", source="ORDO:55881/index", source="Orphanet:55881", source="MONDO:directSiblingOf"} +xref: ICD10CM:C40.2 {source="Orphanet:55881/index", source="Orphanet:55881/ntbt", source="Orphanet:55881", source="MONDO:directSiblingOf"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9261/3 {source="NCIT:C7644"} xref: MESH:C562741 {source="MONDO:equivalentTo", source="DOID:2775"} -xref: MESH:D050398 {source="DOID:2776", source="MONDO:equivalentTo", source="ORDO:55881/e", source="Orphanet:55881"} +xref: MESH:D050398 {source="Orphanet:55881/e", source="DOID:2776", source="MONDO:equivalentTo", source="Orphanet:55881"} xref: NCIT:C7644 {source="DOID:2776", source="MONDO:equivalentTo"} -xref: OMIM:102660 {source="MONDO:equivalentTo", source="DOID:2775", source="ORDO:55881/e", source="Orphanet:55881"} +xref: OMIM:102660 {source="Orphanet:55881/e", source="MONDO:equivalentTo", source="DOID:2775", source="Orphanet:55881"} xref: ONCOTREE:ADMA {source="MONDO:equivalentTo"} xref: Orphanet:55881 {source="OMIM:102660", source="MONDO:equivalentTo"} xref: SCTID:189895006 {source="DOID:2775"} xref: SCTID:307609003 {source="MONDO:equivalentTo", source="DOID:2775"} xref: SCTID:56763007 {source="DOID:2775"} xref: UMLS:C0334556 {source="NCBI:mim2gene_medline", source="OMIM:102660", source="MONDO:equivalentTo", source="NCIT:C7644", source="DOID:2775"} -xref: UMLS:C1367554 {source="MONDO:equivalentObsolete", source="DOID:2776", source="ORDO:55881/e", source="Orphanet:55881"} +xref: UMLS:C1367554 {source="Orphanet:55881/e", source="MONDO:equivalentObsolete", source="DOID:2776", source="Orphanet:55881"} is_a: MONDO:0002129 {source="DOID:2775/inferred", source="DOID:2776", source="MESH:C562741/inferred", source="MESH:D050398", source="NCIT:C7644", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bone cancer is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C7644"} ! epithelial neoplasm is_a: MONDO:0019060 {source="NCIT:C7644/inferred", source="ONCOTREE:ADMA", source="Orphanet:55881", source="indirect"} ! bone neoplasm @@ -37720,8 +37713,7 @@ synonym: "parasitic protozoa infectious disease" RELATED [DOID:2789] synonym: "protozoal infection" EXACT [NCIT:C34953] synonym: "sarcomastigophora infectious disease" NARROW [DOID:2789] xref: DOID:2789 {source="MONDO:equivalentTo"} -xref: ICD10CM:B50-B64 {source="DOID:2789"} -xref: ICD10CM:B50-B64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:B50-B64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:2789", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:B64 {source="DOID:2789"} xref: MESH:D011528 {source="MONDO:equivalentTo", source="DOID:2789"} xref: NCIT:C34953 {source="MONDO:equivalentTo", source="DOID:2789"} @@ -37751,7 +37743,7 @@ xref: DOID:2797 {source="MONDO:equivalentTo"} xref: ICD10CM:J84.11 {source="DOID:2797"} xref: ICD10CM:J84.112 {source="DOID:2797", source="MONDO:superClassOf"} xref: ICD10CM:J84.114 {source="DOID:2797"} -xref: MESH:D054988 {source="Orphanet:98300", source="MONDO:equivalentTo", source="ORDO:98300/e"} +xref: MESH:D054988 {source="Orphanet:98300", source="MONDO:equivalentTo", source="Orphanet:98300/e"} xref: NCIT:C35714 {source="MONDO:equivalentTo"} xref: Orphanet:98300 {source="MONDO:equivalentTo"} xref: SCTID:129459004 {source="DOID:2797"} @@ -37766,7 +37758,7 @@ xref: SCTID:45157009 {source="DOID:2797"} xref: SCTID:700249006 {source="MONDO:equivalentTo"} xref: SCTID:700250006 {source="DOID:2797"} xref: UMLS:C0085786 {source="DOID:2797", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2350236 {source="Orphanet:98300", source="MONDO:equivalentTo", source="ORDO:98300/e", source="NCIT:C35714"} +xref: UMLS:C2350236 {source="Orphanet:98300", source="MONDO:equivalentTo", source="Orphanet:98300/e", source="NCIT:C35714"} is_a: MONDO:0005249 {source="DOID:2797", source="NCIT:C35714/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia is_a: MONDO:0017027 {source="Orphanet:98300"} ! primary interstitial lung disease specific to adulthood relationship: disease_has_feature HP:0002090 ! Pneumonia @@ -37991,8 +37983,8 @@ synonym: "prolonged QT interval in EKG and sudden death" RELATED [GARD:0003048] synonym: "Surdo-cardiac syndrome" RELATED [GARD:0003048] xref: DOID:2842 {source="MONDO:equivalentTo"} xref: GARD:0003048 {source="MONDO:equivalentTo"} -xref: ICD10CM:I45.8 {source="ORDO:90647/attributed", source="ORDO:90647/ntbt", source="Orphanet:90647"} -xref: MedDRA:10057936 {source="ORDO:90647/e", source="Orphanet:90647"} +xref: ICD10CM:I45.8 {source="Orphanet:90647/attributed", source="Orphanet:90647/ntbt", source="Orphanet:90647"} +xref: MedDRA:10057936 {source="Orphanet:90647/e", source="Orphanet:90647"} xref: MESH:D029593 {source="DOID:2842", source="MONDO:equivalentTo"} xref: NCIT:C84793 {source="MONDO:equivalentTo"} xref: OMIM:220400 {source="GARD:0003048", source="DOID:2842", source="MONDO:superClassOf", source="Orphanet:90647"} @@ -38002,7 +37994,7 @@ xref: Orphanet:768 {source="MONDO:subClassOf", source="OMIM:220400"} xref: Orphanet:90647 {source="GARD:0003048", source="MONDO:equivalentTo", source="OMIM:220400"} xref: SCTID:373905003 {source="DOID:2842", source="MONDO:equivalentTo"} xref: SCTID:49518001 {source="DOID:2842"} -xref: UMLS:C0022387 {source="GARD:0003048", source="DOID:2842", source="MONDO:equivalentTo", source="NCIT:C84793", source="OMIM:220400", source="ORDO:90647/e", source="Orphanet:90647"} +xref: UMLS:C0022387 {source="GARD:0003048", source="Orphanet:90647/e", source="DOID:2842", source="MONDO:equivalentTo", source="NCIT:C84793", source="OMIM:220400", source="Orphanet:90647"} is_a: MONDO:0002442 {source="DOID:2842", source="MESH:D029593", source="NCIT:C84793"} ! long QT syndrome is_a: MONDO:0019589 {source="Orphanet:90647"} ! syndromic genetic hearing loss relationship: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="Orphanet:90647", source="linkedlifedata", source="linkedlifedata/inferred"} ! familial long QT syndrome @@ -38302,13 +38294,13 @@ synonym: "Treacher Collins syndrome" RELATED [DOID:2908] synonym: "Treacher-Collins syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:2908 {source="MONDO:equivalentTo"} xref: GARD:0009124 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.4 {source="ORDO:861/inclusion", source="DOID:2908", source="ORDO:861/ntbt", source="Orphanet:861"} -xref: MedDRA:10051456 {source="ORDO:861/e", source="Orphanet:861"} +xref: ICD10CM:Q75.4 {source="DOID:2908", source="Orphanet:861/ntbt", source="Orphanet:861/inclusion", source="Orphanet:861"} +xref: MedDRA:10051456 {source="Orphanet:861/e", source="Orphanet:861"} xref: MESH:D008342 {source="MONDO:subClassOf", source="DOID:2908"} xref: NCIT:C75018 {source="DOID:2908", source="MONDO:equivalentTo"} -xref: OMIM:154500 {source="DOID:2908", source="MONDO:superClassOf", source="ORDO:861/e", source="Orphanet:861"} -xref: OMIM:248390 {source="DOID:2908", source="MONDO:superClassOf", source="ORDO:861/btnt", source="Orphanet:861"} -xref: OMIM:613717 {source="DOID:2908", source="MONDO:superClassOf", source="ORDO:861/btnt", source="Orphanet:861"} +xref: OMIM:154500 {source="DOID:2908", source="Orphanet:861/e", source="MONDO:superClassOf", source="Orphanet:861"} +xref: OMIM:248390 {source="DOID:2908", source="MONDO:superClassOf", source="Orphanet:861/btnt", source="Orphanet:861"} +xref: OMIM:613717 {source="DOID:2908", source="MONDO:superClassOf", source="Orphanet:861/btnt", source="Orphanet:861"} xref: OMIMPS:154500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:861 {source="MONDO:equivalentTo", source="OMIM:154500"} xref: SCTID:205416009 {source="DOID:2908"} @@ -38316,7 +38308,7 @@ xref: SCTID:205804007 {source="DOID:2908"} xref: SCTID:62767009 {source="MONDO:equivalentTo"} xref: SCTID:82203000 {source="DOID:2908"} xref: UMLS:C0242387 {source="DOID:2908", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C75018"} -xref: UMLS:C0265241 {source="MONDO:equivalentTo", source="ORDO:861/e", source="Orphanet:861"} +xref: UMLS:C0265241 {source="Orphanet:861/e", source="MONDO:equivalentTo", source="Orphanet:861"} is_a: MONDO:0000426 {source="DOID:2908", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75018", source="indirect"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:861", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -38539,8 +38531,7 @@ synonym: "internal Ear disorder" EXACT [NCIT:C27166] synonym: "labyrinthine disease" EXACT [DOID:2952] synonym: "vestibular disorder" NARROW [NCIT:C27166] xref: DOID:2952 {source="MONDO:equivalentTo"} -xref: ICD10CM:H80-H83 {source="DOID:2952", source="MONDO:equivalentTo"} -xref: ICD10CM:H80-H83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:H80-H83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:2952", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:H83.9 {source="DOID:2952"} xref: ICD10CM:H83.90 {source="DOID:2952"} xref: MESH:D007759 {source="DOID:2952", source="MONDO:equivalentTo"} @@ -38706,21 +38697,21 @@ synonym: "hyperoxaluria, primary" EXACT [OMIMPS:259900] synonym: "primary hyperoxaluria" EXACT [MONDO:0018478] xref: DOID:2977 {source="MONDO:equivalentTo"} xref: ICD10CM:E72.53 {source="DOID:2977"} -xref: ICD10CM:E74.8 {source="Orphanet:416", source="ORDO:416/inclusion", source="ORDO:416/ntbt"} +xref: ICD10CM:E74.8 {source="Orphanet:416/ntbt", source="Orphanet:416/inclusion", source="Orphanet:416"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10020703 {source="ORDO:416/e", source="Orphanet:416"} -xref: MESH:D006959 {source="ORDO:416/e", source="Orphanet:416", source="DOID:2977"} +xref: MedDRA:10020703 {source="Orphanet:416", source="Orphanet:416/e"} +xref: MESH:D006959 {source="Orphanet:416", source="Orphanet:416/e", source="DOID:2977"} xref: MESH:D006960 {source="MONDO:equivalentTo", source="DOID:2977"} xref: NCIT:C123158 {source="MONDO:equivalentTo", source="DOID:2977"} -xref: OMIM:259900 {source="Orphanet:416", source="MONDO:superClassOf", source="ORDO:416/btnt"} -xref: OMIM:260000 {source="Orphanet:416", source="MONDO:superClassOf", source="ORDO:416/btnt", source="DOID:2977"} -xref: OMIM:613616 {source="Orphanet:416", source="MONDO:superClassOf", source="ORDO:416/btnt", source="DOID:2977"} +xref: OMIM:259900 {source="Orphanet:416/btnt", source="Orphanet:416", source="MONDO:superClassOf"} +xref: OMIM:260000 {source="Orphanet:416/btnt", source="Orphanet:416", source="MONDO:superClassOf", source="DOID:2977"} +xref: OMIM:613616 {source="Orphanet:416/btnt", source="Orphanet:416", source="MONDO:superClassOf", source="DOID:2977"} xref: OMIMPS:259900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:416 {source="MONDO:equivalentTo"} xref: SCTID:17901006 {source="MONDO:equivalentTo", source="DOID:2977"} xref: SCTID:190766003 {source="DOID:2977"} xref: SCTID:367621000119107 {source="DOID:2977"} -xref: UMLS:C0020500 {source="ORDO:416/e", source="Orphanet:416", source="MONDO:notFoundInDiseaseSubset", source="DOID:2977"} +xref: UMLS:C0020500 {source="Orphanet:416", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:416/e", source="DOID:2977"} xref: UMLS:C0020501 {source="Orphanet:416", source="MONDO:equivalentTo", source="DOID:2977", source="NCIT:C123158"} is_a: MONDO:0003847 {source="MESH:D006960/inferred", source="MONDO:Redundant", source="NCIT:C123158", source="Orphanet:416/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0005240 {source="DOID:2977", source="MESH:D006960/inferred", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disorder @@ -39549,7 +39540,7 @@ synonym: "porphyria of liver" EXACT [MONDO:design_pattern] synonym: "porphyria, hepatic" RELATED [MESH:D017094] xref: DOID:3133 {source="MONDO:equivalentTo"} xref: GTR:AN0932921 {source="UMLS:CN552491"} -xref: ICD10CM:E80.2 {source="Orphanet:95157", source="ORDO:95157/inclusion", source="ORDO:95157/ntbt"} +xref: ICD10CM:E80.2 {source="Orphanet:95157/inclusion", source="Orphanet:95157", source="Orphanet:95157/ntbt"} xref: MESH:D017094 {source="DOID:3133", source="MONDO:equivalentTo"} xref: OMIM:612740 {source="DOID:3133", source="MONDO:superClassOf"} xref: Orphanet:100924 {source="DOID:3133", source="MONDO:superClassOf"} @@ -39642,13 +39633,13 @@ synonym: "lipid metabolism disorder" BROAD [DOID:3146] xref: DOID:3146 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:272.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10061227 {source="Orphanet:309005", source="ORDO:309005/e"} +xref: MedDRA:10061227 {source="Orphanet:309005/e", source="Orphanet:309005"} xref: MESH:D008052 {source="DOID:3146"} xref: NCIT:C97092 {source="MONDO:equivalentTo"} xref: Orphanet:309005 {source="MONDO:equivalentTo"} xref: SCTID:267431006 {source="MONDO:equivalentTo"} xref: UMLS:C0023772 {source="DOID:3146", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0154251 {source="NCIT:C97092", source="MONDO:equivalentTo", source="Orphanet:309005", source="ORDO:309005/e"} +xref: UMLS:C0154251 {source="NCIT:C97092", source="Orphanet:309005/e", source="MONDO:equivalentTo", source="Orphanet:309005"} is_a: MONDO:0019052 {source="DOID:3146", source="MONDO:Redundant", source="NCIT:C97092", source="Orphanet:309005"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_disrupts GO:0006629 ! lipid metabolic process @@ -40035,8 +40026,8 @@ xref: EFO:0000693 {source="MONDO:equivalentTo"} xref: GARD:0004767 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9560/0 {source="NCIT:C3269"} -xref: MedDRA:10029234 {source="ORDO:252164/e", source="Orphanet:252164"} -xref: MedDRA:10029235 {source="ORDO:252164/e", source="Orphanet:252164"} +xref: MedDRA:10029234 {source="Orphanet:252164", source="Orphanet:252164/e"} +xref: MedDRA:10029235 {source="Orphanet:252164", source="Orphanet:252164/e"} xref: MESH:D009442 {source="DOID:3192"} xref: NCIT:C3269 {source="MONDO:equivalentTo"} xref: ONCOTREE:SCHW {source="MONDO:equivalentTo"} @@ -40044,8 +40035,8 @@ xref: Orphanet:252164 {source="MONDO:equivalentTo"} xref: SCTID:189948006 {source="DOID:3192"} xref: SCTID:404022001 {source="MONDO:equivalentTo", source="DOID:3192"} xref: SCTID:985004 {source="DOID:3192"} -xref: UMLS:C0027809 {source="ORDO:252164/e", source="Orphanet:252164", source="MONDO:equivalentTo", source="DOID:3192", source="NCIT:C3269"} -xref: UMLS:C0854906 {source="ORDO:252164/e", source="Orphanet:252164", source="DOID:955", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0027809 {source="Orphanet:252164", source="MONDO:equivalentTo", source="Orphanet:252164/e", source="DOID:3192", source="NCIT:C3269"} +xref: UMLS:C0854906 {source="Orphanet:252164", source="DOID:955", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:252164/e"} xref: UMLS:CN202001 {source="MONDO:equivalentTo"} is_a: MONDO:0002547 {source="NCIT:C3269", source="ONCOTREE:SCHW"} ! nerve sheath neoplasm is_a: MONDO:0016752 {source="Orphanet:252164"} ! benign peripheral nerve sheath tumor @@ -40491,9 +40482,9 @@ synonym: "primary lymphoma, CNS" RELATED [GARD:0009318] xref: DOID:3234 {source="MONDO:equivalentTo"} xref: EFO:1000157 {source="MONDO:equivalentTo"} xref: GARD:0009318 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C83.3 {source="ORDO:46135/ntbt", source="Orphanet:46135"} +xref: ICD10CM:C83.3 {source="Orphanet:46135/ntbt", source="Orphanet:46135"} xref: ICD9:200.5 {source="DOID:3234"} -xref: MedDRA:10036685 {source="ORDO:46135/e", source="Orphanet:46135"} +xref: MedDRA:10036685 {source="Orphanet:46135/e", source="Orphanet:46135"} xref: NCIT:C9301 {source="DOID:3234", source="ONCOTREE:PCNSL", source="EFO:1000157", source="MONDO:equivalentTo"} xref: ONCOTREE:PCNSL {source="MONDO:equivalentTo"} xref: Orphanet:46135 {source="MONDO:equivalentTo"} @@ -40502,7 +40493,7 @@ xref: SCTID:21964009 {source="DOID:3234"} xref: SCTID:307649006 {source="DOID:3234", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"} xref: SCTID:69110006 {source="DOID:3234"} xref: UMLS:C0240803 {source="MONDO:relatedTo", source="Orphanet:46135"} -xref: UMLS:C0280803 {source="DOID:3234", source="NCIT:C9301", source="ONCOTREE:PCNSL", source="MONDO:notFoundInDiseaseSubset", source="ORDO:46135/e", source="Orphanet:46135"} +xref: UMLS:C0280803 {source="DOID:3234", source="NCIT:C9301", source="Orphanet:46135/e", source="ONCOTREE:PCNSL", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:46135"} xref: UMLS:C0742472 {source="DOID:3234", source="MONDO:equivalentObsolete"} is_a: MONDO:0002714 {source="DOID:3234/inferred", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system cancer is_a: MONDO:0003641 {source="DOID:3234", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system hematopoietic neoplasm @@ -40797,13 +40788,13 @@ synonym: "spindle cell thymoma" EXACT [NCIT:C6454] synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454] synonym: "thymoma, medullary" EXACT [DOID:3279] xref: DOID:3279 {source="MONDO:equivalentTo"} -xref: ICD10CM:C37 {source="Orphanet:263310", source="ORDO:263310/ntbt"} -xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263310", source="ORDO:263310/ntbt"} +xref: ICD10CM:C37 {source="Orphanet:263310/ntbt", source="Orphanet:263310"} +xref: ICD10CM:D15.0 {source="Orphanet:263310/ntbt", source="MONDO:relatedTo", source="Orphanet:263310"} xref: ICDO:8581/1 {source="NCIT:C6454"} xref: NCIT:C6454 {source="DOID:3279", source="MONDO:equivalentTo"} xref: Orphanet:263310 {source="MONDO:equivalentTo"} xref: SCTID:128707003 {source="DOID:3279"} -xref: UMLS:C1266091 {source="NCIT:C6454", source="Orphanet:263310", source="DOID:3279", source="ORDO:263310/e", source="MONDO:equivalentTo"} +xref: UMLS:C1266091 {source="NCIT:C6454", source="Orphanet:263310", source="DOID:3279", source="MONDO:equivalentTo", source="Orphanet:263310/e"} is_a: MONDO:0006456 {source="DOID:3279", source="NCIT:C6454", source="Orphanet:263310"} ! thymoma [Term] @@ -41455,15 +41446,15 @@ synonym: "osteosarcoma, somatic mutation" EXACT [OMIM:259500, OMIM:genemap2] synonym: "primary osteosarcoma of bone" EXACT [DOID:3376, NCIT:C4834] xref: DOID:3376 {source="MONDO:equivalentTo"} xref: GARD:0007284 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C41.9 {source="Orphanet:668", source="ORDO:668/ntbt"} +xref: ICD10CM:C41.9 {source="Orphanet:668/ntbt", source="Orphanet:668"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10031291 {source="ORDO:668/e", source="Orphanet:668"} -xref: MESH:D012516 {source="ORDO:668/e", source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"} +xref: MedDRA:10031291 {source="Orphanet:668", source="Orphanet:668/e"} +xref: MESH:D012516 {source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="Orphanet:668/e", source="EFO:0000637"} xref: NCIT:C53707 {source="DOID:3376", source="MONDO:equivalentTo"} -xref: OMIM:259500 {source="ORDO:668/e", source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"} +xref: OMIM:259500 {source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="Orphanet:668/e", source="EFO:0000637"} xref: Orphanet:668 {source="MONDO:equivalentTo", source="OMIM:259500"} xref: SCTID:307576001 {source="DOID:3376", source="MONDO:equivalentTo"} -xref: UMLS:C0029463 {source="ORDO:668/e", source="NCBI:mim2gene_medline", source="Orphanet:668", source="DOID:3347", source="MONDO:notFoundInDiseaseSubset", source="OMIM:259500"} +xref: UMLS:C0029463 {source="NCBI:mim2gene_medline", source="Orphanet:668", source="DOID:3347", source="MONDO:notFoundInDiseaseSubset", source="OMIM:259500", source="Orphanet:668/e"} xref: UMLS:C0585442 {source="DOID:3376", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C53707"} is_a: MONDO:0009807 {source="DOID:3376", source="NCIT:C53707"} ! osteosarcoma is_a: MONDO:0021054 {source="NCIT:C53707", source="Orphanet:668", source="linkedlifedata"} ! bone sarcoma @@ -42065,8 +42056,7 @@ synonym: "disease of breast" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of breast" EXACT [] synonym: "disorder of breast" EXACT [MONDO:patterns/location_top] xref: DOID:3463 {source="MONDO:equivalentTo"} -xref: ICD10CM:N60-N65 {source="DOID:3463"} -xref: ICD10CM:N60-N65 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:N60-N65 {source="DOID:3463", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:N64.9 {source="DOID:3463"} xref: ICD9:610-612.99 {source="DOID:3463"} xref: ICD9:611.8 {source="MONDO:relatedTo", source="i2s"} @@ -42570,13 +42560,13 @@ synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [DO synonym: "atypical CPP" EXACT [Orphanet:251902] synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720] xref: DOID:3544 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.5 {source="ORDO:251902/ntbt", source="Orphanet:251902"} +xref: ICD10CM:C71.5 {source="Orphanet:251902/ntbt", source="Orphanet:251902"} xref: ICDO:9390/1 {source="NCIT:C53686"} xref: NCIT:C53686 {source="DOID:3544", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:ACPP {source="MONDO:equivalentTo"} xref: Orphanet:251902 {source="MONDO:equivalentTo"} xref: SCTID:128904001 {source="DOID:3544"} -xref: UMLS:C1266176 {source="DOID:3544", source="MONDO:equivalentTo", source="NCIT:C53686", source="Orphanet:251902", source="ORDO:251902/e"} +xref: UMLS:C1266176 {source="DOID:3544", source="Orphanet:251902/e", source="MONDO:equivalentTo", source="NCIT:C53686", source="Orphanet:251902"} is_a: MONDO:0016717 {source="NCIT:C53686", source="ONCOTREE:ACPP", source="Orphanet:251902"} ! choroid plexus neoplasm [Term] @@ -42788,7 +42778,7 @@ xref: DOID:3578 {source="MONDO:equivalentTo"} xref: EFO:1000420 {source="MONDO:equivalentTo"} xref: HP:0000149 {source="MONDO:otherHierarchy"} xref: NCIT:C39985 {source="MONDO:equivalentTo", source="DOID:3578"} -xref: OMIM:424500 {source="DOID:3301", source="MONDO:equivalentTo", source="ORDO:206484/e", source="Orphanet:206484"} +xref: OMIM:424500 {source="Orphanet:206484/e", source="DOID:3301", source="MONDO:equivalentTo", source="Orphanet:206484"} xref: Orphanet:206484 {source="MONDO:equivalentTo", source="OMIM:424500"} xref: SCTID:716594002 {source="MONDO:equivalentTo"} xref: UMLS:C1518716 {source="MONDO:equivalentTo", source="DOID:3578", source="NCIT:C39985"} @@ -43383,17 +43373,17 @@ synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808] xref: DOID:3672 {source="MONDO:equivalentTo"} xref: EFO:0005701 {source="MONDO:equivalentTo"} xref: GARD:0007572 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C49.9 {source="ORDO:69077/ntbt", source="Orphanet:69077"} +xref: ICD10CM:C49.9 {source="Orphanet:69077", source="Orphanet:69077/ntbt"} xref: ICDO:8963/3 {source="NCIT:C3808"} -xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="ORDO:69077/e", source="Orphanet:69077"} +xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="Orphanet:69077", source="Orphanet:69077/e"} xref: NCIT:C3808 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701"} -xref: OMIM:609322 {source="ORDO:69077/btnt", source="MONDO:superClassOf", source="Orphanet:69077"} -xref: OMIM:613325 {source="ORDO:69077/btnt", source="MONDO:superClassOf", source="Orphanet:69077"} +xref: OMIM:609322 {source="MONDO:superClassOf", source="Orphanet:69077", source="Orphanet:69077/btnt"} +xref: OMIM:613325 {source="MONDO:superClassOf", source="Orphanet:69077", source="Orphanet:69077/btnt"} xref: ONCOTREE:MRT {source="MONDO:equivalentTo"} xref: Orphanet:69077 {source="MONDO:equivalentTo"} xref: SCTID:189812005 {source="DOID:3672"} xref: SCTID:83118000 {source="DOID:3672"} -xref: UMLS:C0206743 {source="DOID:3672", source="NCIT:C3808", source="MONDO:equivalentTo", source="ORDO:69077/e", source="Orphanet:69077"} +xref: UMLS:C0206743 {source="DOID:3672", source="NCIT:C3808", source="MONDO:equivalentTo", source="Orphanet:69077", source="Orphanet:69077/e"} is_a: MONDO:0005564 {source="EFO:0005701", source="NCIT:C3808"} ! embryonal neoplasm is_a: MONDO:0018078 {source="Orphanet:69077"} ! soft tissue sarcoma @@ -43549,7 +43539,7 @@ synonym: "anal canal adenocarcinoma" EXACT [MONDO:ambiguous, MONDO:patterns/loca synonym: "anal canal adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3692 {source="MONDO:equivalentTo"} xref: HP:0030439 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C21.1 {source="Orphanet:424016", source="ORDO:424016/ntbt"} +xref: ICD10CM:C21.1 {source="Orphanet:424016", source="Orphanet:424016/ntbt"} xref: NCIT:C7471 {source="MONDO:equivalentTo", source="DOID:3692"} xref: Orphanet:424016 {source="MONDO:equivalentTo"} xref: SCTID:764845008 {source="MONDO:equivalentTo"} @@ -43841,11 +43831,11 @@ synonym: "ovarian adenocarcinoma" EXACT [DOID:3713, MONDO:0005600, NCIT:C7700, O synonym: "ovary adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3713 {source="MONDO:equivalentTo"} xref: EFO:0006460 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:213504/ntbt", source="Orphanet:213504"} -xref: MedDRA:10051938 {source="Orphanet:213504", source="ORDO:213504/e"} +xref: ICD10CM:C56 {source="Orphanet:213504", source="Orphanet:213504/ntbt"} +xref: MedDRA:10051938 {source="Orphanet:213504", source="Orphanet:213504/e"} xref: NCIT:C7700 {source="MONDO:equivalentTo", source="DOID:3713", source="EFO:0006460"} xref: Orphanet:213504 {source="MONDO:equivalentTo"} -xref: UMLS:C0948216 {source="Orphanet:213504", source="MONDO:notFoundInDiseaseSubset", source="ORDO:213504/e", source="DOID:3713", source="NCIT:C7700"} +xref: UMLS:C0948216 {source="Orphanet:213504", source="MONDO:notFoundInDiseaseSubset", source="DOID:3713", source="NCIT:C7700", source="Orphanet:213504/e"} is_a: MONDO:0004970 {source="DOID:3713", source="EFO:0006460", source="MONDO:Redundant", source="NCIT:C7700"} ! adenocarcinoma is_a: MONDO:0005140 {source="DOID:3713", source="EFO:0006460", source="MONDO:Entailed", source="NCIT:C7700"} ! ovarian carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma @@ -44213,8 +44203,7 @@ synonym: "preauricular sinus and fistula (disorder)" RELATED DUBIOUS [DOID:379] synonym: "preauricular sinus or fistula" RELATED DUBIOUS [DOID:379] synonym: "preauricular sinus or fistula NOS (disorder)" RELATED DUBIOUS [DOID:379] xref: DOID:379 {source="MONDO:equivalentTo"} -xref: ICD10CM:H60-H62 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:H60-H62 {source="DOID:379", source="MONDO:equivalentTo"} +xref: ICD10CM:H60-H62 {source="DOID:379", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:H61.9 {source="DOID:379"} xref: ICD9:380 {source="DOID:379"} xref: ICD9:380.9 {source="DOID:379"} @@ -45862,9 +45851,9 @@ synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229] synonym: "cervical Müllerian adenosarcoma" EXACT [NCIT:C40229] synonym: "uterine cervix adenosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4111 {source="MONDO:equivalentTo"} -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213792/btnt", source="Orphanet:213792"} -xref: ICD10CM:C53.1 {source="ORDO:213792/btnt", source="Orphanet:213792"} -xref: ICD10CM:C53.8 {source="ORDO:213792/btnt", source="Orphanet:213792"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213792/btnt", source="Orphanet:213792"} +xref: ICD10CM:C53.1 {source="Orphanet:213792/btnt", source="Orphanet:213792"} +xref: ICD10CM:C53.8 {source="Orphanet:213792/btnt", source="Orphanet:213792"} xref: NCIT:C40229 {source="DOID:4111", source="MONDO:equivalentTo"} xref: Orphanet:213792 {source="MONDO:equivalentTo"} xref: SCTID:764847000 {source="MONDO:equivalentTo"} @@ -45894,7 +45883,7 @@ synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [Orphanet:2 synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4112 {source="MONDO:equivalentTo"} -xref: ICD10CM:C53 {source="Orphanet:213787", source="ORDO:213787/ntbt"} +xref: ICD10CM:C53 {source="Orphanet:213787/ntbt", source="Orphanet:213787"} xref: NCIT:C36097 {source="DOID:4112", source="MONDO:equivalentTo"} xref: NCIT:C40226 {source="DOID:4112"} xref: NCIT:C40228 {source="DOID:4112"} @@ -45934,7 +45923,7 @@ synonym: "uterine corpus mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336] synonym: "uterine corpus Müllerian adenosarcoma" EXACT [NCIT:C6336] xref: DOID:4113 {source="MONDO:equivalentTo"} xref: GARD:0009636 {source="MONDO:equivalentTo"} -xref: ICD10CM:C54.2 {source="Orphanet:213600", source="ORDO:213600/ntbt"} +xref: ICD10CM:C54.2 {source="Orphanet:213600/ntbt", source="Orphanet:213600"} xref: MESH:C538232 {source="MONDO:equivalentTo"} xref: NCIT:C6336 {source="DOID:4113", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:UAS {source="MONDO:equivalentTo"} @@ -46314,7 +46303,6 @@ synonym: "skin neoplasm, malignant" EXACT [NCIT:C2920] synonym: "zone of skin cancer" EXACT [MONDO:patterns/location] xref: DOID:4159 {source="MONDO:equivalentTo"} xref: GARD:0010421 {source="MONDO:equivalentTo"} -xref: ICD10CM:C43-C44 {source="MONDO:equivalentTo"} xref: ICD10CM:C43-C44 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:173.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:173.9 {source="MONDO:relatedTo", source="i2s"} @@ -48258,7 +48246,7 @@ synonym: "multilocular cystic renal cell carcinoma" EXACT [NCIT:C4524, Orphanet: synonym: "multilocular cystic renal neoplasm of low malignant potential" RELATED [Orphanet:319287] synonym: "renal cystadenocarcinoma" EXACT [DOID:4463, NCIT:C4524] xref: DOID:4463 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="ORDO:319287/ntbt", source="Orphanet:319287"} +xref: ICD10CM:C64 {source="Orphanet:319287", source="Orphanet:319287/ntbt"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8316/3 {source="NCIT:C4524"} xref: NCIT:C4524 {source="DOID:4463", source="MONDO:equivalentTo"} @@ -48278,7 +48266,7 @@ synonym: "mucinous tubular and spindle cell carcinoma of the kidney" EXACT [NCIT synonym: "mucinous tubular and spindle cell renal carcinoma" EXACT [MONDO:0017889] synonym: "renal mucinous tubular spindle cell carcinoma" RELATED [ONCOTREE:MTSCC] xref: DOID:4472 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="ORDO:319322/ntbt", source="Orphanet:319322"} +xref: ICD10CM:C64 {source="Orphanet:319322/ntbt", source="Orphanet:319322"} xref: ICDO:0000/0 {source="NCIT:C39807"} xref: NCIT:C39807 {source="MONDO:equivalentTo", source="DOID:4472"} xref: ONCOTREE:MTSCC {source="MONDO:equivalentTo"} @@ -50150,7 +50138,7 @@ synonym: "testicular sex cord-stromal neoplasm" EXACT [NCIT:C6358] synonym: "testicular sex cord-stromal tumor" EXACT [NCIT:C6358, Orphanet:363489] synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location] xref: DOID:4757 {source="MONDO:equivalentTo"} -xref: ICD10CM:C62.1 {source="ORDO:363489/ntbt", source="Orphanet:363489"} +xref: ICD10CM:C62.1 {source="Orphanet:363489", source="Orphanet:363489/ntbt"} xref: NCIT:C6358 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"} xref: Orphanet:363489 {source="MONDO:equivalentTo"} xref: SCTID:702406000 {source="MONDO:equivalentTo", source="DOID:4757"} @@ -50416,7 +50404,7 @@ xref: Orphanet:251883 {source="MONDO:equivalentTo"} xref: SCTID:189932005 {source="DOID:4790"} xref: SCTID:39005004 {source="DOID:4790"} xref: SCTID:715903004 {source="MONDO:equivalentTo"} -xref: UMLS:C0334596 {source="MONDO:equivalentTo", source="Orphanet:251883", source="ORDO:251883/e", source="DOID:4790", source="NCIT:C4327"} +xref: UMLS:C0334596 {source="MONDO:equivalentTo", source="Orphanet:251883", source="DOID:4790", source="Orphanet:251883/e", source="NCIT:C4327"} is_a: MONDO:0016713 {source="Orphanet:251883"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor relationship: excluded_subClassOf MONDO:0000640 {source="DOID:4790"} ! central nervous system primitive neuroectodermal neoplasm @@ -51249,7 +51237,7 @@ synonym: "small intestine adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:4906 {source="MONDO:equivalentTo"} xref: EFO:1000532 {source="MONDO:equivalentTo"} xref: GARD:0013090 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D01.4 {source="ORDO:104075/ntbt", source="Orphanet:104075"} +xref: ICD10CM:D01.4 {source="Orphanet:104075", source="Orphanet:104075/ntbt"} xref: NCIT:C7888 {source="MONDO:equivalentTo", source="DOID:4906"} xref: Orphanet:104075 {source="MONDO:equivalentTo"} xref: SCTID:424440001 {source="MONDO:equivalentTo", source="DOID:4906"} @@ -51954,8 +51942,7 @@ synonym: "thyroid gland disorder" EXACT [NCIT:C26893] synonym: "thyroid gland disorders" EXACT [NCIT:C26893] xref: DOID:50 {source="MONDO:equivalentTo"} xref: EFO:1000627 {source="MONDO:equivalentTo"} -xref: ICD10CM:E00-E07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:E00-E07 {source="MONDO:equivalentTo", source="DOID:50"} +xref: ICD10CM:E00-E07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:50", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:E07.9 {source="DOID:50"} xref: ICD9:240-246.99 {source="DOID:50"} xref: ICD9:246.8 {source="MONDO:relatedTo", source="i2s"} @@ -52477,9 +52464,9 @@ synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770] synonym: "ependymal tumors" EXACT [DOID:5074] synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT] xref: EFO:1000027 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.7 {source="Orphanet:301", source="ORDO:301/ntbt"} +xref: ICD10CM:C71.7 {source="Orphanet:301", source="Orphanet:301/ntbt"} xref: NCIT:C6770 {source="MONDO:equivalentTo"} -xref: OMIM:137800 {source="Orphanet:301", source="MONDO:relatedTo", source="ORDO:301/ntbt"} +xref: OMIM:137800 {source="Orphanet:301", source="MONDO:relatedTo", source="Orphanet:301/ntbt"} xref: ONCOTREE:EPMT {source="MONDO:equivalentTo"} xref: Orphanet:301 {source="MONDO:equivalentTo"} xref: UMLS:C0014474 {source="Orphanet:301", source="MONDO:superClassOf"} @@ -53725,13 +53712,13 @@ xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"} xref: DOID:5246 {source="MONDO:equivalentObsolete"} xref: EFO:1001005 {source="MONDO:equivalentTo"} xref: GARD:0010175 {source="MONDO:equivalentTo"} -xref: ICD10CM:C24.0 {source="Orphanet:99978", source="ORDO:99978/ntbt"} -xref: MESH:D018285 {source="ORDO:99978/e", source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927"} +xref: ICD10CM:C24.0 {source="Orphanet:99978", source="Orphanet:99978/ntbt"} +xref: MESH:D018285 {source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927", source="Orphanet:99978/e"} xref: NCIT:C36077 {source="DOID:5246", source="MONDO:equivalentTo", source="DOID:4927"} xref: Orphanet:99978 {source="GARD:0010175", source="MONDO:equivalentTo"} xref: SCTID:253017000 {source="MONDO:equivalentTo", source="DOID:4927"} xref: SCTID:6492006 {source="DOID:4927"} -xref: UMLS:C0206702 {source="GARD:0010175", source="NCIT:C36077", source="ORDO:99978/e", source="MONDO:equivalentTo", source="Orphanet:99978", source="DOID:4927"} +xref: UMLS:C0206702 {source="GARD:0010175", source="NCIT:C36077", source="MONDO:equivalentTo", source="Orphanet:99978", source="DOID:4927", source="Orphanet:99978/e"} is_a: MONDO:0003210 {source="DOID:4927"} ! intrahepatic cholangiocarcinoma is_a: MONDO:0019087 {source="DOID:4927/inferred", source="DOID:5246", source="EFO:1001005", source="MESH:D018285", source="MONDO:Redundant", source="NCIT:C36077", source="indirect", source="linkedlifedata"} ! cholangiocarcinoma intersection_of: MONDO:0019087 ! cholangiocarcinoma @@ -53962,11 +53949,11 @@ synonym: "small intestinal leiomyosarcoma" EXACT [NCIT:C7085] synonym: "small intestine leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C7085] synonym: "smooth muscle connective tissue tumor" RELATED [DOID:5271] xref: DOID:5271 {source="MONDO:equivalentTo"} -xref: ICD10CM:C17.0 {source="ORDO:104076/btnt", source="Orphanet:104076"} -xref: ICD10CM:C17.1 {source="ORDO:104076/btnt", source="Orphanet:104076"} -xref: ICD10CM:C17.2 {source="ORDO:104076/btnt", source="Orphanet:104076"} -xref: ICD10CM:C17.3 {source="ORDO:104076/btnt", source="Orphanet:104076"} -xref: ICD10CM:C17.8 {source="ORDO:104076/btnt", source="Orphanet:104076"} +xref: ICD10CM:C17.0 {source="Orphanet:104076/btnt", source="Orphanet:104076"} +xref: ICD10CM:C17.1 {source="Orphanet:104076/btnt", source="Orphanet:104076"} +xref: ICD10CM:C17.2 {source="Orphanet:104076/btnt", source="Orphanet:104076"} +xref: ICD10CM:C17.3 {source="Orphanet:104076/btnt", source="Orphanet:104076"} +xref: ICD10CM:C17.8 {source="Orphanet:104076/btnt", source="Orphanet:104076"} xref: NCIT:C7085 {source="MONDO:equivalentTo", source="DOID:5271"} xref: Orphanet:104076 {source="MONDO:equivalentTo"} xref: SCTID:716651004 {source="MONDO:equivalentTo"} @@ -57725,18 +57712,18 @@ synonym: "syndromes, HBOC" RELATED [MESH:D061325] xref: DOID:5683 {source="MONDO:equivalentTo"} xref: GARD:0012351 {source="MONDO:equivalentTo"} xref: GARD:0012352 {source="MONDO:equivalentTo"} -xref: ICD10CM:C50 {source="ORDO:145/attributed", source="MONDO:relatedTo", source="ORDO:145/nd", source="Orphanet:145"} -xref: ICD10CM:C56 {source="ORDO:145/attributed", source="ORDO:145/nd", source="Orphanet:145"} +xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"} +xref: ICD10CM:C56 {source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"} xref: MESH:D061325 {source="MONDO:equivalentTo", source="DOID:5683"} xref: NCIT:C8493 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5683"} -xref: OMIM:604370 {source="ORDO:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} -xref: OMIM:612555 {source="ORDO:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} -xref: OMIM:613399 {source="ORDO:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} -xref: OMIM:614291 {source="ORDO:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} +xref: OMIM:604370 {source="Orphanet:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} +xref: OMIM:612555 {source="Orphanet:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} +xref: OMIM:613399 {source="Orphanet:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} +xref: OMIM:614291 {source="Orphanet:145/btnt", source="MONDO:superClassOf", source="DOID:5683", source="Orphanet:145"} xref: OMIMPS:604370 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="MONDO:equivalentTo"} xref: SCTID:718220008 {source="MONDO:equivalentTo"} -xref: UMLS:C0677776 {source="MONDO:equivalentTo", source="ORDO:145/e", source="DOID:5683", source="NCIT:C8493", source="Orphanet:145"} +xref: UMLS:C0677776 {source="Orphanet:145/e", source="MONDO:equivalentTo", source="DOID:5683", source="NCIT:C8493", source="Orphanet:145"} is_a: MONDO:0000426 {source="DOID:5683", source="MONDO:Redundant", source="NCIT:C8493-def", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D061325", source="NCIT:C8493", source="Orphanet:145", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0016248 {source="Orphanet:145"} ! familial ovarian cancer @@ -58521,11 +58508,11 @@ synonym: "pancreatic serous cystadenocarcinoma" EXACT [NCIT:C5724, Orphanet:4240 synonym: "serous cystadenocarcinoma of pancreas" EXACT [DOID:5751, MONDO:0018526, NCIT:C5724] synonym: "serous cystadenocarcinoma of the pancreas" EXACT [NCIT:C5724] xref: DOID:5751 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.0 {source="ORDO:424073/nd", source="Orphanet:424073"} -xref: ICD10CM:C25.1 {source="ORDO:424073/nd", source="Orphanet:424073"} -xref: ICD10CM:C25.2 {source="ORDO:424073/nd", source="Orphanet:424073"} -xref: ICD10CM:C25.7 {source="ORDO:424073/nd", source="Orphanet:424073"} -xref: ICD10CM:C25.8 {source="ORDO:424073/nd", source="Orphanet:424073"} +xref: ICD10CM:C25.0 {source="Orphanet:424073", source="Orphanet:424073/nd"} +xref: ICD10CM:C25.1 {source="Orphanet:424073", source="Orphanet:424073/nd"} +xref: ICD10CM:C25.2 {source="Orphanet:424073", source="Orphanet:424073/nd"} +xref: ICD10CM:C25.7 {source="Orphanet:424073", source="Orphanet:424073/nd"} +xref: ICD10CM:C25.8 {source="Orphanet:424073", source="Orphanet:424073/nd"} xref: NCIT:C5724 {source="DOID:5751", source="MONDO:equivalentTo"} xref: Orphanet:424073 {source="MONDO:equivalentTo"} xref: UMLS:C1335315 {source="DOID:5751", source="MONDO:equivalentTo", source="Orphanet:424073", source="NCIT:C5724"} @@ -59093,8 +59080,7 @@ synonym: "anemia, hemolytic" EXACT [NCIT:C34376] synonym: "hemolytic anemia" EXACT [NCIT:C34376] xref: DOID:583 {source="MONDO:equivalentTo"} xref: EFO:0005558 {source="MONDO:equivalentTo"} -xref: ICD10CM:D55-D59 {source="MONDO:equivalentTo", source="DOID:583"} -xref: ICD10CM:D55-D59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:D55-D59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:583", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D000743 {source="MONDO:equivalentTo", source="DOID:583"} xref: NCIT:C34376 {source="MONDO:equivalentTo", source="DOID:583", source="exact-label-match"} xref: OMIM:266120 {source="MONDO:superClassOf", source="DOID:583"} @@ -59200,11 +59186,11 @@ xref: DOID:5842 {source="MONDO:equivalentTo"} xref: EFO:0003101 {source="MONDO:equivalentTo"} xref: GARD:0004792 {source="MONDO:equivalentTo"} xref: HP:0100617 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C62.9 {source="Orphanet:842", source="ORDO:842/ntbt"} +xref: ICD10CM:C62.9 {source="Orphanet:842/ntbt", source="Orphanet:842"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D018239 {source="MONDO:subClassOf", source="DOID:5842"} xref: NCIT:C7328 {source="EFO:0003101", source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:842", source="ORDO:842/ntbt"} +xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:842/ntbt", source="Orphanet:842"} xref: Orphanet:842 {source="MONDO:equivalentTo"} xref: SCTID:154532006 {source="DOID:5842"} xref: SCTID:188228003 {source="DOID:5842"} @@ -61368,7 +61354,7 @@ synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:6170 {source="MONDO:equivalentTo"} xref: EFO:1000412 {source="MONDO:equivalentTo"} xref: GARD:0007296 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C56 {source="Orphanet:213512", source="ORDO:213512/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:213512/ntbt", source="Orphanet:213512"} xref: NCIT:C9192 {source="DesignPattern", source="DOID:6170", source="MONDO:equivalentTo", source="EFO:1000412"} xref: ONCOTREE:OCS {source="MONDO:equivalentTo"} xref: Orphanet:213512 {source="MONDO:equivalentTo"} @@ -61410,7 +61396,7 @@ synonym: "small cell ovarian carcinoma" EXACT [Orphanet:370396] xref: DOID:6179 {source="MONDO:equivalentTo"} xref: EFO:1000431 {source="MONDO:equivalentTo"} xref: GARD:0010411 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:370396/ntbt", source="Orphanet:370396"} +xref: ICD10CM:C56 {source="Orphanet:370396", source="Orphanet:370396/ntbt"} xref: NCIT:C27390 {source="DOID:6179", source="MONDO:equivalentTo", source="EFO:1000431"} xref: ONCOTREE:SCCO {source="MONDO:equivalentTo"} xref: Orphanet:370396 {source="MONDO:equivalentTo"} @@ -65882,10 +65868,10 @@ synonym: "mitochondrial genetic disorders" RELATED [GARD:0007048] synonym: "mitochondrial metabolism disease" RELATED [DOID:700] xref: DOID:700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: GARD:0007048 {source="MONDO:equivalentTo"} -xref: MESH:D028361 {source="DOID:700", source="ORDO:68380/e", source="Orphanet:68380", source="MONDO:equivalentTo"} +xref: MESH:D028361 {source="DOID:700", source="Orphanet:68380", source="MONDO:equivalentTo", source="Orphanet:68380/e"} xref: Orphanet:68380 {source="MONDO:equivalentTo"} xref: SCTID:240096000 {source="DOID:700"} -xref: UMLS:C0751651 {source="DOID:700", source="ORDO:68380/e", source="Orphanet:68380", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751651 {source="DOID:700", source="Orphanet:68380", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:68380/e"} xref: UMLS:CN552492 {source="MONDO:relatedTo", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015327 {source="Orphanet:68380"} ! developmental anomaly of metabolic origin is_a: MONDO:0019243 {source="Orphanet:68380"} ! inborn disorder of energy metabolism @@ -66586,16 +66572,16 @@ synonym: "urinary bladder small cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7132 {source="MONDO:equivalentTo"} xref: EFO:1000129 {source="MONDO:equivalentTo"} xref: GARD:0011923 {source="MONDO:equivalentTo"} -xref: ICD10CM:C67.0 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.1 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.2 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.3 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.4 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.5 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.6 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.7 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.8 {source="ORDO:284400/btnt", source="Orphanet:284400"} -xref: ICD10CM:C67.9 {source="ORDO:284400/btnt", source="Orphanet:284400"} +xref: ICD10CM:C67.0 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.1 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.2 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.3 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.4 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.5 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.6 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.7 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.8 {source="Orphanet:284400", source="Orphanet:284400/btnt"} +xref: ICD10CM:C67.9 {source="Orphanet:284400", source="Orphanet:284400/btnt"} xref: NCIT:C9461 {source="MONDO:equivalentTo", source="DOID:7132", source="EFO:1000129"} xref: ONCOTREE:SCBC {source="MONDO:equivalentTo"} xref: Orphanet:284400 {source="MONDO:equivalentTo"} @@ -66865,7 +66851,7 @@ subset: ordo_disease {source="Orphanet:424019"} synonym: "anal canal squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7469] synonym: "squamous cell carcinoma of the anal canal" EXACT [MONDO:0018519] xref: DOID:7177 {source="MONDO:equivalentTo"} -xref: ICD10CM:C21.1 {source="Orphanet:424019", source="ORDO:424019/ntbt"} +xref: ICD10CM:C21.1 {source="Orphanet:424019/ntbt", source="Orphanet:424019"} xref: NCIT:C7469 {source="MONDO:equivalentTo", source="DOID:7177", source="exact-label-match"} xref: Orphanet:424019 {source="MONDO:equivalentTo"} xref: UMLS:C1332262 {source="MONDO:equivalentTo", source="NCIT:C7469", source="DOID:7177"} @@ -68551,9 +68537,9 @@ synonym: "osteochondritis of tibial tubercle" EXACT [DOID:7489] synonym: "Osteochondrosis of proximal tibia" EXACT [DOID:7489] synonym: "Osteochondrosis of the tibial tubercle" EXACT [Orphanet:97335] xref: DOID:7489 {source="MONDO:equivalentTo"} -xref: ICD10CM:M93.2 {source="Orphanet:97335", source="ORDO:97335/ntbt"} +xref: ICD10CM:M93.2 {source="Orphanet:97335", source="Orphanet:97335/ntbt"} xref: ICD9:736.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10031130 {source="ORDO:97335/e", source="Orphanet:97335"} +xref: MedDRA:10031130 {source="Orphanet:97335", source="Orphanet:97335/e"} xref: MESH:D055034 {source="DOID:7489", source="MONDO:subClassOf"} xref: NCIT:C34874 {source="DOID:7489", source="MONDO:equivalentTo"} xref: Orphanet:97335 {source="MONDO:equivalentTo"} @@ -69246,7 +69232,7 @@ synonym: "pancreatic intraductal papillary-colloid carcinoma" RELATED [NCIT:C572 synonym: "pancreatic intraductal papillary-colloidal carcinoma" RELATED [NCIT:C5725] synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5725] xref: DOID:7574 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.3 {source="ORDO:424058/ntbt", source="Orphanet:424058"} +xref: ICD10CM:C25.3 {source="Orphanet:424058/ntbt", source="Orphanet:424058"} xref: NCIT:C5725 {source="MONDO:equivalentTo", source="NCIT:C5725", source="DOID:7574"} xref: Orphanet:424058 {source="MONDO:equivalentTo"} xref: UMLS:C1335304 {source="MONDO:equivalentTo", source="NCIT:C5725", source="Orphanet:424058", source="DOID:7574"} @@ -73231,9 +73217,9 @@ synonym: "glassy cell carcinoma of the cervix uteri" RELATED [Orphanet:213833] synonym: "glassy cell variant cervical adenosquamous carcinoma" RELATED [DOID:8361] xref: DOID:8361 {source="MONDO:equivalentTo"} xref: GARD:0008437 {source="MONDO:equivalentTo"} -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213833/btnt", source="Orphanet:213833"} -xref: ICD10CM:C53.1 {source="ORDO:213833/btnt", source="Orphanet:213833"} -xref: ICD10CM:C53.8 {source="ORDO:213833/btnt", source="Orphanet:213833"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213833", source="Orphanet:213833/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213833", source="Orphanet:213833/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213833", source="Orphanet:213833/btnt"} xref: MESH:C536823 {source="MONDO:equivalentTo"} xref: NCIT:C40212 {source="MONDO:equivalentTo", source="DOID:8361"} xref: ONCOTREE:CEGCC {source="MONDO:equivalentTo"} @@ -74317,11 +74303,11 @@ synonym: "lymphocyte-rich Classic Hodgkin lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte-rich classical Hodgkin lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte-rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913] xref: DOID:8543 {source="MONDO:equivalentTo"} -xref: ICD10CM:C81.4 {source="ORDO:98845/e", source="Orphanet:98845", source="DOID:8543"} +xref: ICD10CM:C81.4 {source="Orphanet:98845", source="Orphanet:98845/e", source="DOID:8543"} xref: ICD9:201.4 {source="DOID:8543"} xref: ICDO:9651/3 {source="NCIT:C6913"} -xref: MedDRA:10020231 {source="ORDO:98845/e", source="Orphanet:98845"} -xref: MESH:D006689 {source="MONDO:subClassOf", source="ORDO:98845/e", source="Orphanet:98845", source="DOID:8543"} +xref: MedDRA:10020231 {source="Orphanet:98845", source="Orphanet:98845/e"} +xref: MESH:D006689 {source="MONDO:subClassOf", source="Orphanet:98845", source="Orphanet:98845/e", source="DOID:8543"} xref: NCIT:C6913 {source="MONDO:equivalentTo", source="DOID:8543"} xref: ONCOTREE:LRCHL {source="MONDO:equivalentTo"} xref: Orphanet:98845 {source="MONDO:equivalentTo"} @@ -74331,7 +74317,7 @@ xref: SCTID:188553001 {source="DOID:8543"} xref: SCTID:188563009 {source="DOID:8543"} xref: SCTID:189988001 {source="DOID:8543"} xref: SCTID:59668005 {source="DOID:8543"} -xref: UMLS:C1266194 {source="ORDO:98845/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98845", source="NCIT:C6913", source="DOID:8543"} +xref: UMLS:C1266194 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98845", source="NCIT:C6913", source="Orphanet:98845/e", source="DOID:8543"} is_a: MONDO:0004952 {source="DOID:8543", source="MONDO:0004604/inferred", source="MONDO:Redundant", source="NCIT:C6913/inferred", source="ONCOTREE:LRCHL/inferred"} ! Hodgkins lymphoma is_a: MONDO:0009348 {source="NCIT:C6913", source="ONCOTREE:LRCHL", source="Orphanet:98845"} ! classic Hodgkin lymphoma @@ -74684,7 +74670,7 @@ synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [DOID:8628] synonym: "lymphocyte-depleted classical Hodgkin lymphoma" EXACT [DOID:8628, NCIT:C9283] xref: DOID:8628 {source="MONDO:equivalentTo"} -xref: ICD10CM:C81.3 {source="ORDO:98846/e", source="DOID:8628", source="Orphanet:98846"} +xref: ICD10CM:C81.3 {source="DOID:8628", source="Orphanet:98846", source="Orphanet:98846/e"} xref: ICD9:201.7 {source="DOID:8628"} xref: MESH:D006689 {source="MONDO:subClassOf", source="DOID:8628"} xref: NCIT:C9125 {source="MONDO:equivalentTo"} @@ -75078,7 +75064,7 @@ synonym: "mixed cellularity Hodgkin lymphoma" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's disease" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's lymphoma" EXACT [NCIT:C3517] xref: DOID:8654 {source="MONDO:equivalentTo"} -xref: ICD10CM:C81.2 {source="DOID:8654", source="ORDO:98844/e", source="Orphanet:98844"} +xref: ICD10CM:C81.2 {source="DOID:8654", source="Orphanet:98844", source="Orphanet:98844/e"} xref: ICD9:201.6 {source="DOID:8654"} xref: ICDO:9652/3 {source="NCIT:C3517"} xref: MESH:D006689 {source="MONDO:subClassOf", source="DOID:8654"} @@ -75928,8 +75914,7 @@ synonym: "worm infection" RELATED [DOID:883] xref: DOID:883 {source="MONDO:equivalentTo"} xref: EFO:1001342 {source="MONDO:equivalentTo"} xref: GARD:0006578 {source="MONDO:equivalentTo"} -xref: ICD10CM:B65-B83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:B65-B83 {source="MONDO:equivalentTo", source="DOID:883"} +xref: ICD10CM:B65-B83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:883", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:B83.9 {source="DOID:883"} xref: ICD9:120-129.99 {source="DOID:883"} xref: ICD9:128.8 {source="MONDO:relatedTo", source="i2s"} @@ -77555,7 +77540,7 @@ synonym: "urea cycle disorders" EXACT [GARD:0007837] synonym: "urea cycle metabolism disorder" EXACT [NCIT:C84785] xref: DOID:9267 {source="MONDO:equivalentTo"} xref: GARD:0007837 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E72.2 {source="ORDO:79167/attributed", source="ORDO:79167/ntbt", source="DOID:9267", source="Orphanet:79167"} +xref: ICD10CM:E72.2 {source="Orphanet:79167/attributed", source="Orphanet:79167/ntbt", source="DOID:9267", source="Orphanet:79167"} xref: ICD10CM:E72.20 {source="DOID:9267"} xref: ICD9:270.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:9267"} xref: MESH:D056806 {source="MONDO:equivalentTo", source="DOID:9267"} @@ -80717,17 +80702,17 @@ subset: ordo_morphological_anomaly {source="Orphanet:2248"} synonym: "HLHS" EXACT ABBREVIATION [Orphanet:2248] xref: DOID:9955 {source="MONDO:equivalentTo"} xref: GARD:0006739 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q23.4 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q23.4 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} xref: ICD9:746.7 {source="DOID:9955", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10021076 {source="ORDO:2248/e"} -xref: MESH:D018636 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:equivalentTo"} +xref: MedDRA:10021076 {source="Orphanet:2248/e"} +xref: MESH:D018636 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} xref: NCIT:C98894 {source="DOID:9955", source="MONDO:equivalentTo"} -xref: OMIM:241550 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:superClassOf"} -xref: OMIM:614435 {source="DOID:9955", source="MONDO:superClassOf", source="ORDO:2248/btnt"} +xref: OMIM:241550 {source="DOID:9955", source="MONDO:superClassOf", source="Orphanet:2248/e"} +xref: OMIM:614435 {source="DOID:9955", source="MONDO:superClassOf", source="Orphanet:2248/btnt"} xref: OMIMPS:241550 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2248 {source="MONDO:equivalentTo", source="OMIM:241550"} xref: SCTID:62067003 {source="DOID:9955", source="MONDO:equivalentTo"} -xref: UMLS:C0152101 {source="DOID:9955", source="ORDO:2248/e", source="MONDO:equivalentTo", source="NCIT:C98894"} +xref: UMLS:C0152101 {source="DOID:9955", source="MONDO:equivalentTo", source="NCIT:C98894", source="Orphanet:2248/e"} is_a: MONDO:0002254 {source="NCIT:C98894"} ! syndromic disease is_a: MONDO:0005453 {source="DOID:9955", source="MESH:D018636"} ! congenital heart disease is_a: MONDO:0005584 ! congenital left-sided heart lesions @@ -81007,24 +80992,24 @@ synonym: "small lymphocytic lymphoma" EXACT [Orphanet:67038] xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"} xref: EFO:0000095 {source="MONDO:equivalentTo", source="DOID:1040"} xref: GARD:0006104 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:C91.1 {source="Orphanet:67038", source="DOID:1040", source="ORDO:67038/ntbt"} +xref: ICD10CM:C91.1 {source="Orphanet:67038", source="Orphanet:67038/ntbt", source="DOID:1040"} xref: ICD10CM:C91.10 {source="DOID:1040"} xref: ICD9:204.1 {source="EFO:0000095", source="DOID:1040"} -xref: MedDRA:10008958 {source="Orphanet:67038", source="ORDO:67038/e"} -xref: MESH:D015451 {source="Orphanet:67038", source="MONDO:equivalentTo", source="ORDO:67038/e", source="EFO:0000095", source="DOID:1040"} +xref: MedDRA:10008958 {source="Orphanet:67038", source="Orphanet:67038/e"} +xref: MESH:D015451 {source="Orphanet:67038", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="EFO:0000095", source="DOID:1040"} xref: NCIT:C3163 {source="MONDO:equivalentTo", source="EFO:0000095", source="DOID:1040"} -xref: OMIM:109543 {source="Orphanet:67038", source="MONDO:superClassOf", source="EFO:0000095", source="DOID:1040", source="ORDO:67038/btnt"} -xref: OMIM:151400 {source="Orphanet:67038", source="MONDO:equivalentTo", source="ORDO:67038/e", source="EFO:0000095", source="DOID:1040"} -xref: OMIM:609630 {source="Orphanet:67038", source="MONDO:superClassOf", source="DOID:1040", source="ORDO:67038/btnt"} -xref: OMIM:612557 {source="Orphanet:67038", source="MONDO:superClassOf", source="DOID:1040", source="ORDO:67038/btnt"} -xref: OMIM:612558 {source="Orphanet:67038", source="MONDO:superClassOf", source="DOID:1040", source="ORDO:67038/btnt"} -xref: OMIM:612559 {source="Orphanet:67038", source="MONDO:superClassOf", source="DOID:1040", source="ORDO:67038/btnt"} +xref: OMIM:109543 {source="Orphanet:67038", source="Orphanet:67038/btnt", source="MONDO:superClassOf", source="EFO:0000095", source="DOID:1040"} +xref: OMIM:151400 {source="Orphanet:67038", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="EFO:0000095", source="DOID:1040"} +xref: OMIM:609630 {source="Orphanet:67038", source="Orphanet:67038/btnt", source="MONDO:superClassOf", source="DOID:1040"} +xref: OMIM:612557 {source="Orphanet:67038", source="Orphanet:67038/btnt", source="MONDO:superClassOf", source="DOID:1040"} +xref: OMIM:612558 {source="Orphanet:67038", source="Orphanet:67038/btnt", source="MONDO:superClassOf", source="DOID:1040"} +xref: OMIM:612559 {source="Orphanet:67038", source="Orphanet:67038/btnt", source="MONDO:superClassOf", source="DOID:1040"} xref: Orphanet:67038 {source="MONDO:equivalentTo", source="DOID:1040", source="OMIM:151400"} xref: SCTID:154589005 {source="DOID:1040"} xref: SCTID:277473004 {source="DOID:1040"} xref: SCTID:51092000 {source="EFO:0000095", source="DOID:1040"} xref: SCTID:92814006 {source="DOID:1040"} -xref: UMLS:C0023434 {source="Orphanet:67038", source="NCIT:C3163", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:67038/e", source="DOID:1040", source="OMIM:151400"} +xref: UMLS:C0023434 {source="Orphanet:67038", source="NCIT:C3163", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="DOID:1040", source="OMIM:151400"} xref: UMLS:C0855095 {source="Orphanet:67038", source="MONDO:equivalentTo"} xref: UMLS:C1868683 {source="Orphanet:67038", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001014 {source="NCIT:C3163"} ! chronic leukemia @@ -81591,7 +81576,7 @@ xref: EFO:0000220 {source="DOID:9952", source="MONDO:equivalentTo"} xref: GARD:0000522 {source="MONDO:equivalentTo"} xref: HP:0006721 {source="MONDO:otherHierarchy"} xref: ICD10CM:C91 {source="DOID:1037"} -xref: ICD10CM:C91.0 {source="DOID:9952", source="ORDO:513/e", source="Orphanet:513"} +xref: ICD10CM:C91.0 {source="DOID:9952", source="Orphanet:513", source="Orphanet:513/e"} xref: ICD10CM:C91.00 {source="DOID:9952"} xref: ICD10CM:C91.9 {source="DOID:1037"} xref: ICD10CM:C91.90 {source="DOID:1037"} @@ -81604,9 +81589,9 @@ xref: MESH:D007945 {source="DOID:1037", source="MONDO:superClassOf"} xref: MESH:D015452 {source="EFO:0000220"} xref: MESH:D054198 {source="EFO:0000220"} xref: NCIT:C3167 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo"} -xref: OMIM:247640 {source="DOID:9952", source="Orphanet:513", source="MONDO:superClassOf", source="ORDO:513/btnt"} -xref: OMIM:613065 {source="DOID:9952", source="ORDO:513/e", source="EFO:0000220", source="Orphanet:513", source="MONDO:superClassOf"} -xref: OMIM:613067 {source="DOID:9952", source="Orphanet:513", source="MONDO:superClassOf", source="ORDO:513/btnt"} +xref: OMIM:247640 {source="DOID:9952", source="Orphanet:513", source="Orphanet:513/btnt", source="MONDO:superClassOf"} +xref: OMIM:613065 {source="DOID:9952", source="EFO:0000220", source="Orphanet:513", source="MONDO:superClassOf", source="Orphanet:513/e"} +xref: OMIM:613067 {source="DOID:9952", source="Orphanet:513", source="Orphanet:513/btnt", source="MONDO:superClassOf"} xref: OMIM:615545 {source="DOID:9952", source="MONDO:superClassOf"} xref: Orphanet:513 {source="DOID:9952", source="MONDO:equivalentTo", source="GARD:0000522"} xref: SCTID:128807009 {source="EFO:0000220"} @@ -81842,17 +81827,17 @@ synonym: "motor neuron disease, bulbar" EXACT [DOID:332] xref: DOID:332 {source="EFO:0000253", source="MONDO:equivalentTo"} xref: EFO:0000253 {source="MONDO:equivalentTo", source="DOID:332"} xref: GARD:0005786 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:803/ntbt", source="Orphanet:803"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:803", source="Orphanet:803/ntbt"} xref: ICD10CM:G12.21 {source="MONDO:equivalentTo", source="DOID:332"} xref: ICD9:335.20 {source="EFO:0000253", source="MONDO:equivalentTo", source="i2s", source="DOID:332"} xref: KEGG:05014 {source="MONDO:relatedTo", source="DOID:332"} -xref: MedDRA:10002026 {source="ORDO:803/e", source="Orphanet:803"} -xref: MESH:D000690 {source="EFO:0000253", source="ORDO:803/e", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332"} +xref: MedDRA:10002026 {source="Orphanet:803", source="Orphanet:803/e"} +xref: MESH:D000690 {source="EFO:0000253", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332", source="Orphanet:803/e"} xref: NCIT:C34373 {source="EFO:0000253", source="MONDO:equivalentTo", source="DOID:332", source="exact-label-match"} xref: NIFSTD:birnlex_12566 {source="EFO:0000253"} xref: Orphanet:803 {source="MONDO:equivalentTo", source="DOID:332"} xref: SCTID:86044005 {source="EFO:0000253", source="MONDO:equivalentTo", source="DOID:332"} -xref: UMLS:C0002736 {source="NCIT:C34373", source="ORDO:803/e", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332"} +xref: UMLS:C0002736 {source="NCIT:C34373", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332", source="Orphanet:803/e"} is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder is_a: MONDO:0005559 {source="Orphanet:803"} ! neurodegenerative disease is_a: MONDO:0020128 {source="DOID:332", source="ICD10CM:G12.21", source="MESH:D000690", source="MONDO:Redundant", source="Orphanet:803"} ! motor neuron disorder @@ -81880,11 +81865,11 @@ xref: DOID:0111147 {source="MONDO:equivalentTo"} xref: EFO:0000255 {source="MONDO:equivalentTo"} xref: GARD:0011973 {source="MONDO:equivalentTo"} xref: GARD:11973 {source="DOID:0111147"} -xref: ICD10CM:C86.5 {source="ORDO:86886/e", source="Orphanet:86886", source="MONDO:equivalentTo", source="DOID:0111147"} +xref: ICD10CM:C86.5 {source="Orphanet:86886", source="MONDO:equivalentTo", source="Orphanet:86886/e", source="DOID:0111147"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9705/3 {source="NCIT:C7528"} xref: ICDO:9767/1 {source="NCIT:C7528"} -xref: MedDRA:10002449 {source="ORDO:86886/e", source="Orphanet:86886", source="DOID:0111147"} +xref: MedDRA:10002449 {source="Orphanet:86886", source="Orphanet:86886/e", source="DOID:0111147"} xref: MESH:D007119 {source="MONDO:equivalentTo"} xref: NCIT:C7528 {source="EFO:0000255", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:0111147"} xref: ONCOTREE:AITL {source="MONDO:equivalentTo"} @@ -82450,8 +82435,8 @@ xref: ICD10CM:I51.5 {source="DOID:0050700"} xref: ICD9:425 {source="DOID:0050700", source="EFO:0000318"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:425.9 {source="DOID:0050700"} -xref: MedDRA:10007636 {source="ORDO:167848/e", source="Orphanet:167848"} -xref: MESH:D009202 {source="DOID:0050700", source="MONDO:equivalentTo", source="ORDO:167848/e", source="EFO:0000318", source="Orphanet:167848"} +xref: MedDRA:10007636 {source="Orphanet:167848/e", source="Orphanet:167848"} +xref: MESH:D009202 {source="Orphanet:167848/e", source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318", source="Orphanet:167848"} xref: NCIT:C34830 {source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318"} xref: NCIT:C53654 {source="DOID:0050700", source="MONDO:superClassOf"} xref: Orphanet:167848 {source="MONDO:equivalentTo"} @@ -82468,7 +82453,7 @@ xref: SCTID:89461002 {source="DOID:0050700"} xref: SCTID:89600009 {source="DOID:0050700"} xref: UMLS:C0033141 {source="DOID:0050700", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0036529 {source="DOID:0050700", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0878544 {source="DOID:0050700", source="MONDO:equivalentTo", source="ORDO:167848/e", source="NCIT:C34830", source="Orphanet:167848"} +xref: UMLS:C0878544 {source="Orphanet:167848/e", source="DOID:0050700", source="MONDO:equivalentTo", source="NCIT:C34830", source="Orphanet:167848"} is_a: MONDO:0005267 {source="Orphanet:167848"} ! heart disorder relationship: disease_has_location UBERON:0001133 ! cardiac muscle tissue relationship: has_modifier MONDO:0021136 {source="MONDO:0019996"} ! rare @@ -82773,7 +82758,7 @@ synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"} xref: EFO:0000350 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="Orphanet:457246", source="ORDO:457246/index", source="ORDO:457246/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:457246", source="Orphanet:457246/index", source="Orphanet:457246/ntbt"} xref: ICDO:8964/3 {source="NCIT:C4264"} xref: NCIT:C4264 {source="EFO:0000350", source="MONDO:equivalentTo", source="DOID:4880"} xref: ONCOTREE:CCSK {source="MONDO:equivalentTo"} @@ -83132,8 +83117,7 @@ synonym: "DM" EXACT ABBREVIATION [NCIT:C2985] xref: DOID:9351 {source="EFO:0000400", source="MONDO:equivalentTo"} xref: EFO:0000400 {source="MONDO:equivalentTo"} xref: HP:0000819 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E08-E13 {source="DOID:9351"} -xref: ICD10CM:E08-E13 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:E08-E13 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:9351", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:E11 {source="DOID:9351"} xref: ICD9:250 {source="EFO:0000400", source="DOID:9351"} xref: MESH:D003920 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"} @@ -83299,11 +83283,11 @@ synonym: "primary dilated cardiomyopathy" RELATED [DOID:12930] xref: DOID:12930 {source="MONDO:equivalentTo", source="EFO:0000407"} xref: EFO:0000407 {source="DOID:12930", source="MONDO:equivalentTo"} xref: HP:0001644 {source="MONDO:otherHierarchy", source="EFO:0000407"} -xref: ICD10CM:I42.0 {source="DOID:12930", source="ORDO:217604/e", source="Orphanet:217604", source="MONDO:equivalentTo"} +xref: ICD10CM:I42.0 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} xref: KEGG:05414 {source="DOID:12930", source="MONDO:relatedTo"} -xref: MedDRA:10056370 {source="ORDO:217604/e", source="Orphanet:217604"} -xref: MESH:D002311 {source="DOID:12930", source="ORDO:217604/e", source="Orphanet:217604", source="MONDO:equivalentTo", source="EFO:0000407"} +xref: MedDRA:10056370 {source="Orphanet:217604", source="Orphanet:217604/e"} +xref: MESH:D002311 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e", source="EFO:0000407"} xref: MP:0002795 {source="EFO:0000407"} xref: NCIT:C84673 {source="DOID:12930", source="MONDO:equivalentTo", source="EFO:0000407"} xref: OMIM:115200 {source="MONDO:superClassOf", source="EFO:0000407"} @@ -83314,7 +83298,7 @@ xref: SCTID:195021004 {source="DOID:12930", source="MONDO:equivalentTo"} xref: SCTID:389995008 {source="DOID:12930"} xref: SCTID:399020009 {source="DOID:12930", source="EFO:0000407"} xref: SCTID:74368002 {source="DOID:12930"} -xref: UMLS:C0007193 {source="DOID:12930", source="ORDO:217604/e", source="Orphanet:217604", source="MONDO:equivalentTo", source="NCIT:C84673"} +xref: UMLS:C0007193 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e", source="NCIT:C84673"} is_a: MONDO:0000591 {source="DOID:12930", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy is_a: MONDO:0004994 {source="DOID:12930/inferred", source="EFO:0000407", source="ICD10CM:I42.0", source="MESH:D002311", source="MONDO:Redundant", source="NCIT:C84673", source="Orphanet:217604", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiomyopathy @@ -83489,11 +83473,11 @@ synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914] synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [DOID:4914, NCIT:C4025] xref: DOID:4914 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="EFO:0000478"} xref: EFO:0000478 {source="MONDO:equivalentTo"} -xref: ICD10CM:C15.5 {source="Orphanet:99976", source="ORDO:99976/btnt"} +xref: ICD10CM:C15.5 {source="Orphanet:99976/btnt", source="Orphanet:99976"} xref: MESH:C562730 {source="EFO:0000478", source="DOID:4914"} xref: NCIT:C4025 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"} xref: OMIM:109350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="EFO:0000478"} -xref: OMIM:614266 {source="MONDO:relatedTo", source="Orphanet:99976", source="ORDO:99976/ntbt"} +xref: OMIM:614266 {source="Orphanet:99976/ntbt", source="MONDO:relatedTo", source="Orphanet:99976"} xref: ONCOTREE:ESCA {source="MONDO:equivalentTo"} xref: Orphanet:99976 {source="MONDO:equivalentTo"} xref: SCTID:276803003 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"} @@ -83525,15 +83509,15 @@ synonym: "primary thrombocytosis" EXACT [DOID:2224, NCIT:C3407] xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"} xref: EFO:0000479 {source="MONDO:equivalentTo"} xref: GARD:0006594 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.3 {source="DOID:2224", source="Orphanet:3318", source="ORDO:3318/e"} +xref: ICD10CM:D47.3 {source="DOID:2224", source="Orphanet:3318", source="Orphanet:3318/e"} xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="i2s"} xref: ICDO:9962/3 {source="NCIT:C3407"} -xref: MedDRA:10015493 {source="Orphanet:3318", source="ORDO:3318/e"} -xref: MESH:D013920 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="Orphanet:3318", source="ORDO:3318/e"} +xref: MedDRA:10015493 {source="Orphanet:3318", source="Orphanet:3318/e"} +xref: MESH:D013920 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="Orphanet:3318", source="Orphanet:3318/e"} xref: NCIT:C3407 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="exact-label-match"} -xref: OMIM:187950 {source="ORDO:3318/ntbt", source="DOID:2224", source="MONDO:superClassOf", source="EFO:0000479", source="Orphanet:3318"} -xref: OMIM:601977 {source="ORDO:3318/ntbt", source="DOID:2224", source="MONDO:superClassOf", source="EFO:0000479", source="Orphanet:3318"} -xref: OMIM:614521 {source="ORDO:3318/ntbt", source="DOID:2224", source="MONDO:superClassOf", source="EFO:0000479", source="Orphanet:3318"} +xref: OMIM:187950 {source="DOID:2224", source="MONDO:superClassOf", source="EFO:0000479", source="Orphanet:3318", source="Orphanet:3318/ntbt"} +xref: OMIM:601977 {source="DOID:2224", source="MONDO:superClassOf", source="EFO:0000479", source="Orphanet:3318", source="Orphanet:3318/ntbt"} +xref: OMIM:614521 {source="DOID:2224", source="MONDO:superClassOf", source="EFO:0000479", source="Orphanet:3318", source="Orphanet:3318/ntbt"} xref: ONCOTREE:ET {source="MONDO:equivalentTo"} xref: Orphanet:3318 {source="DOID:2224", source="MONDO:equivalentTo"} xref: Orphanet:71493 {source="MONDO:relatedTo", source="DOID:2224", source="MONDO:superClassOf"} @@ -83546,7 +83530,7 @@ xref: SCTID:191333009 {source="DOID:2224"} xref: SCTID:234499005 {source="DOID:2224"} xref: SCTID:307652003 {source="DOID:2224"} xref: SCTID:65471002 {source="DOID:2224"} -xref: UMLS:C0040028 {source="NCIT:C3407", source="DOID:2224", source="MONDO:equivalentTo", source="Orphanet:3318", source="ORDO:3318/e"} +xref: UMLS:C0040028 {source="NCIT:C3407", source="DOID:2224", source="MONDO:equivalentTo", source="Orphanet:3318", source="Orphanet:3318/e"} is_a: MONDO:0002249 {source="https://orcid.org/0000-0002-4142-7153"} ! thrombocytosis disease is_a: MONDO:0020076 {source="DOID:2224", source="EFO:0000479", source="MONDO:Redundant", source="NCIT:C3407", source="ONCOTREE:ET", source="Orphanet:3318"} ! myeloproliferative neoplasm relationship: disease_has_feature HP:0001894 ! Thrombocytosis @@ -83658,10 +83642,10 @@ synonym: "neural Crest tumor, benign" EXACT [NCIT:C3049] xref: DOID:4817 {source="MONDO:equivalentTo", source="EFO:0000500"} xref: EFO:0000500 {source="MONDO:equivalentTo"} xref: HP:0003005 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D36.1 {source="ORDO:251992/ntbt", source="Orphanet:251992"} +xref: ICD10CM:D36.1 {source="Orphanet:251992", source="Orphanet:251992/ntbt"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9490/0 {source="NCIT:C3049"} -xref: MedDRA:10017709 {source="ORDO:251992/e", source="Orphanet:251992"} +xref: MedDRA:10017709 {source="Orphanet:251992", source="Orphanet:251992/e"} xref: MESH:D005729 {source="EFO:0000500", source="MONDO:directSiblingOf"} xref: NCIT:C3049 {source="MONDO:equivalentTo", source="EFO:0000500"} xref: NCIT:C42065 {source="DOID:4817"} @@ -83670,7 +83654,7 @@ xref: ONCOTREE:GN {source="MONDO:equivalentTo"} xref: Orphanet:251992 {source="MONDO:equivalentTo"} xref: SCTID:116371000119107 {source="MONDO:equivalentTo"} xref: SCTID:53801007 {source="EFO:0000500"} -xref: UMLS:C0017075 {source="ORDO:251992/e", source="MONDO:equivalentTo", source="Orphanet:251992", source="NCIT:C3049"} +xref: UMLS:C0017075 {source="MONDO:equivalentTo", source="Orphanet:251992", source="NCIT:C3049", source="Orphanet:251992/e"} xref: UMLS:C1513025 {source="MONDO:notFoundInDiseaseSubset", source="DOID:4817"} is_a: MONDO:0002366 {source="DOID:4817", source="MONDO:Redundant", source="NCIT:C3049"} ! autonomic nervous system neoplasm is_a: MONDO:0006316 {source="NCIT:C3049"} ! neuroblastic tumor @@ -83747,7 +83731,7 @@ xref: EFO:0000502 {source="MONDO:equivalentTo"} xref: HP:0006747 {source="MONDO:otherHierarchy"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9490/3 {source="NCIT:C3790"} -xref: MedDRA:10017708 {source="ORDO:251877/e", source="Orphanet:251877"} +xref: MedDRA:10017708 {source="Orphanet:251877/e", source="Orphanet:251877"} xref: MESH:D018305 {source="EFO:0000502", source="DOID:4163"} xref: NCIT:C3790 {source="MONDO:equivalentTo", source="EFO:0000502", source="DOID:4163"} xref: NIFSTD:birnlex_12633 {source="EFO:0000502"} @@ -83755,7 +83739,7 @@ xref: ONCOTREE:GNBL {source="MONDO:equivalentTo"} xref: Orphanet:251877 {source="MONDO:equivalentTo"} xref: SCTID:116381000119105 {source="MONDO:equivalentTo", source="DOID:4163"} xref: SCTID:69515008 {source="EFO:0000502", source="DOID:4163"} -xref: UMLS:C0206718 {source="NCIT:C3790", source="MONDO:equivalentTo", source="ORDO:251877/e", source="DOID:4163", source="Orphanet:251877"} +xref: UMLS:C0206718 {source="NCIT:C3790", source="Orphanet:251877/e", source="MONDO:equivalentTo", source="DOID:4163", source="Orphanet:251877"} is_a: MONDO:0006316 {source="NCIT:C3790"} ! neuroblastic tumor relationship: excluded_subClassOf MONDO:0005072 {source="DOID:4163"} ! neuroblastoma property_value: IAO:0000589 "ganglioneuroblastoma (disease)" xsd:string @@ -83882,8 +83866,7 @@ xref: DOID:1686 {source="MONDO:equivalentTo", source="EFO:0000516"} xref: EFO:0000516 {source="MONDO:equivalentTo", source="DOID:1686"} xref: HP:0000501 {source="MONDO:otherHierarchy"} xref: ICD10CM:H40 {source="DOID:1686"} -xref: ICD10CM:H40-H42 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:H40-H42 {source="MONDO:equivalentTo", source="DOID:1686"} +xref: ICD10CM:H40-H42 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:1686", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:H40.9 {source="DOID:1686"} xref: ICD9:365 {source="DOID:1686", source="EFO:0000516"} xref: ICD9:365.89 {source="MONDO:relatedTo", source="i2s"} @@ -83992,8 +83975,8 @@ xref: ICD9:425.1 {source="DOID:11984", source="EFO:0000538"} xref: ICD9:425.11 {source="DOID:11984"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} xref: KEGG:05410 {source="DOID:11984", source="MONDO:relatedTo"} -xref: MedDRA:10020871 {source="ORDO:217569/e", source="Orphanet:217569"} -xref: MESH:D002312 {source="ORDO:217569/e", source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="EFO:0000538"} +xref: MedDRA:10020871 {source="Orphanet:217569", source="Orphanet:217569/e"} +xref: MESH:D002312 {source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="Orphanet:217569/e", source="EFO:0000538"} xref: MESH:D024741 {source="DOID:11984"} xref: NCIT:C34449 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"} xref: NCIT:C84773 {source="DOID:11984", source="MONDO:superClassOf"} @@ -84023,7 +84006,7 @@ xref: SCTID:389998005 {source="DOID:11984"} xref: SCTID:389999002 {source="DOID:11984"} xref: SCTID:45227007 {source="DOID:11984"} xref: SCTID:83978005 {source="DOID:11984"} -xref: UMLS:C0007194 {source="ORDO:217569/e", source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="NCIT:C34449"} +xref: UMLS:C0007194 {source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="Orphanet:217569/e", source="NCIT:C34449"} xref: UMLS:C0949658 {source="DOID:11984", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000591 {source="DOID:11984", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy is_a: MONDO:0004994 {source="DOID:11984/inferred", source="EFO:0000538", source="ICD10CM:I42.1", source="MESH:D002312", source="MONDO:Redundant", source="NCIT:C34449", source="NCIT:C84773/inferred", source="Orphanet:217569", source="indirect", source="linkedlifedata"} ! cardiomyopathy @@ -84119,7 +84102,7 @@ xref: SCTID:134154009 {source="DOID:3892"} xref: SCTID:189586007 {source="DOID:3892"} xref: SCTID:25324008 {source="DOID:3892", source="EFO:0000549"} xref: SCTID:76345009 {source="DOID:3892"} -xref: UMLS:C0021670 {source="DOID:3892", source="Orphanet:97279", source="MONDO:notFoundInDiseaseSubset", source="ORDO:97279/e"} +xref: UMLS:C0021670 {source="DOID:3892", source="Orphanet:97279", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97279/e"} xref: UMLS:C0022134 {source="DOID:3892", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019954 {source="NCIT:C3140", source="Orphanet:97279", source="Orphanet:97279/inferred"} ! pancreatic neuroendocrine tumor @@ -84300,24 +84283,24 @@ xref: DOID:8632 {source="MONDO:equivalentTo", source="EFO:0000558"} xref: EFO:0000558 {source="MONDO:equivalentTo"} xref: GARD:0006814 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0100726 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C46.0 {source="ORDO:33276/btnt", source="Orphanet:33276"} -xref: ICD10CM:C46.1 {source="ORDO:33276/btnt", source="Orphanet:33276"} -xref: ICD10CM:C46.2 {source="ORDO:33276/btnt", source="Orphanet:33276"} -xref: ICD10CM:C46.3 {source="ORDO:33276/btnt", source="Orphanet:33276"} -xref: ICD10CM:C46.7 {source="ORDO:33276/btnt", source="Orphanet:33276"} -xref: ICD10CM:C46.9 {source="ORDO:33276/btnt", source="Orphanet:33276"} +xref: ICD10CM:C46.0 {source="Orphanet:33276/btnt", source="Orphanet:33276"} +xref: ICD10CM:C46.1 {source="Orphanet:33276/btnt", source="Orphanet:33276"} +xref: ICD10CM:C46.2 {source="Orphanet:33276/btnt", source="Orphanet:33276"} +xref: ICD10CM:C46.3 {source="Orphanet:33276/btnt", source="Orphanet:33276"} +xref: ICD10CM:C46.7 {source="Orphanet:33276/btnt", source="Orphanet:33276"} +xref: ICD10CM:C46.9 {source="Orphanet:33276/btnt", source="Orphanet:33276"} xref: ICD9:176 {source="DOID:8632", source="EFO:0000558"} xref: ICD9:176.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:176.9 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9140/3 {source="NCIT:C9087"} -xref: MedDRA:10023284 {source="ORDO:33276/e", source="Orphanet:33276"} -xref: MESH:D012514 {source="DOID:8632", source="MONDO:equivalentTo", source="ORDO:33276/e", source="Orphanet:33276"} +xref: MedDRA:10023284 {source="Orphanet:33276/e", source="Orphanet:33276"} +xref: MESH:D012514 {source="DOID:8632", source="Orphanet:33276/e", source="MONDO:equivalentTo", source="Orphanet:33276"} xref: NCIT:C9087 {source="DOID:8632", source="MONDO:equivalentTo", source="EFO:0000558"} -xref: OMIM:148000 {source="ORDO:33276/btnt", source="DOID:8632", source="MONDO:superClassOf", source="EFO:0000558", source="Orphanet:33276"} +xref: OMIM:148000 {source="DOID:8632", source="MONDO:superClassOf", source="Orphanet:33276/btnt", source="EFO:0000558", source="Orphanet:33276"} xref: Orphanet:33276 {source="MONDO:equivalentTo"} xref: SCTID:109385007 {source="MONDO:equivalentTo"} xref: SCTID:49937004 {source="DOID:8632", source="EFO:0000558"} -xref: UMLS:C0036220 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:33276/e", source="Orphanet:33276", source="NCIT:C9087"} +xref: UMLS:C0036220 {source="Orphanet:33276/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:33276", source="NCIT:C9087"} is_a: MONDO:0002095 {source="MESH:D012514", source="NCIT:C9087", source="indirect"} ! vascular cancer is_a: MONDO:0015157 {source="Orphanet:33276"} ! human herpesvirus 8-related tumor is_a: MONDO:0018078 {source="NCIT:C9087/inferred", source="Orphanet:33276"} ! soft tissue sarcoma @@ -84380,11 +84363,11 @@ synonym: "Leiomyosarcomas" EXACT [DOID:1967, NCIT:C3158] xref: DOID:1967 {source="MONDO:equivalentTo", source="EFO:0000564"} xref: EFO:0000564 {source="MONDO:equivalentTo"} xref: GARD:0006880 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="Orphanet:64720", source="ORDO:64720/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:64720", source="Orphanet:64720/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8890/3 {source="NCIT:C3158"} -xref: MedDRA:10024189 {source="ORDO:64720/e", source="Orphanet:64720"} -xref: MESH:D007890 {source="ORDO:64720/e", source="Orphanet:64720", source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"} +xref: MedDRA:10024189 {source="Orphanet:64720", source="Orphanet:64720/e"} +xref: MESH:D007890 {source="Orphanet:64720", source="MONDO:equivalentTo", source="EFO:0000564", source="Orphanet:64720/e", source="DOID:1967"} xref: NCIT:C3158 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"} xref: OMIM:613488 {source="MONDO:relatedTo", source="EFO:0000564"} xref: ONCOTREE:LMS {source="MONDO:equivalentTo"} @@ -84392,7 +84375,7 @@ xref: Orphanet:64720 {source="MONDO:equivalentTo"} xref: SCTID:189790006 {source="DOID:1967"} xref: SCTID:443719001 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"} xref: SCTID:51549004 {source="EFO:0000564", source="DOID:1967"} -xref: UMLS:C0023269 {source="ORDO:64720/e", source="Orphanet:64720", source="MONDO:equivalentTo", source="NCIT:C3158", source="DOID:1967"} +xref: UMLS:C0023269 {source="Orphanet:64720", source="MONDO:equivalentTo", source="NCIT:C3158", source="Orphanet:64720/e", source="DOID:1967"} is_a: MONDO:0002924 {source="DOID:1967", source="NCIT:C3158"} ! smooth muscle cancer is_a: MONDO:0005089 {source="EFO:0000564", source="MESH:D007890", source="MONDO:Redundant", source="NCIT:C3158", source="indirect", source="linkedlifedata"} ! sarcoma is_a: MONDO:0017345 {source="Orphanet:64720"} ! Epstein-Barr virus-associated mesenchymal tumor @@ -84460,19 +84443,19 @@ synonym: "sarcoma of lip" EXACT [MONDO:patterns/sarcoma] xref: DOID:3382 {source="MONDO:equivalentTo", source="EFO:0000569"} xref: EFO:0000569 {source="MONDO:equivalentTo"} xref: GARD:0006913 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:69078/ntbt", source="Orphanet:69078"} +xref: ICD10CM:C49.9 {source="Orphanet:69078/ntbt", source="Orphanet:69078"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8850/3 {source="NCIT:C3194"} -xref: MedDRA:10024627 {source="ORDO:69078/e", source="Orphanet:69078"} -xref: MESH:D008080 {source="MONDO:equivalentTo", source="ORDO:69078/e", source="EFO:0000569", source="Orphanet:69078", source="DOID:3382"} +xref: MedDRA:10024627 {source="Orphanet:69078/e", source="Orphanet:69078"} +xref: MESH:D008080 {source="Orphanet:69078/e", source="MONDO:equivalentTo", source="EFO:0000569", source="Orphanet:69078", source="DOID:3382"} xref: NCIT:C3194 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"} -xref: OMIM:613488 {source="ORDO:69078/btnt", source="MONDO:superClassOf", source="Orphanet:69078"} +xref: OMIM:613488 {source="MONDO:superClassOf", source="Orphanet:69078/btnt", source="Orphanet:69078"} xref: ONCOTREE:LIPO {source="MONDO:equivalentTo"} xref: Orphanet:69078 {source="MONDO:equivalentTo"} xref: SCTID:189777004 {source="DOID:3382"} xref: SCTID:254829001 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"} xref: SCTID:49430005 {source="EFO:0000569", source="DOID:3382"} -xref: UMLS:C0023827 {source="NCIT:C3194", source="MONDO:equivalentTo", source="ORDO:69078/e", source="Orphanet:69078", source="DOID:3382"} +xref: UMLS:C0023827 {source="NCIT:C3194", source="Orphanet:69078/e", source="MONDO:equivalentTo", source="Orphanet:69078", source="DOID:3382"} is_a: MONDO:0002813 {source="DOID:3382", source="MONDO:Redundant", source="NCIT:C3194", source="linkedlifedata"} ! lipomatous cancer is_a: MONDO:0005089 {source="DOID:3382", source="EFO:0000569", source="MESH:D008080", source="MONDO:Redundant", source="NCIT:C3194", source="indirect"} ! sarcoma is_a: MONDO:0018078 {source="Orphanet:69078"} ! soft tissue sarcoma @@ -84537,8 +84520,8 @@ xref: ICD9:200.0 {source="EFO:0000574"} xref: ICD9:200.1 {source="EFO:0000574"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9590/3 {source="NCIT:C3208"} -xref: MedDRA:10025310 {source="ORDO:223735/e", source="Orphanet:223735"} -xref: MESH:D008223 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo", source="ORDO:223735/e", source="Orphanet:223735"} +xref: MedDRA:10025310 {source="Orphanet:223735", source="Orphanet:223735/e"} +xref: MESH:D008223 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo", source="Orphanet:223735", source="Orphanet:223735/e"} xref: NCIT:C3208 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"} xref: NCIT:C7065 {source="MONDO:subClassOf", source="DOID:0060058"} xref: OMIM:605027 {source="EFO:0000574", source="MONDO:superClassOf"} @@ -84558,7 +84541,7 @@ xref: SCTID:21964009 {source="EFO:0000574", source="DOID:0060058"} xref: SCTID:269627002 {source="DOID:0060058"} xref: SCTID:373168002 {source="MONDO:relatedTo", source="EFO:0000574"} xref: SCTID:414628006 {source="DOID:0060058"} -xref: UMLS:C0024299 {source="DOID:0060058", source="MONDO:equivalentTo", source="ORDO:223735/e", source="Orphanet:223735", source="NCIT:C3208"} +xref: UMLS:C0024299 {source="DOID:0060058", source="MONDO:equivalentTo", source="Orphanet:223735", source="NCIT:C3208", source="Orphanet:223735/e"} xref: UMLS:C0598798 {source="MONDO:subClassOf", source="DOID:0060058"} is_a: MONDO:0002334 {source="DOID:0060058", source="NCIT:C3208/inferred"} ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0005157 {source="EFO:0000574", source="NCIT:C3208"} ! lymphoid neoplasm @@ -84751,8 +84734,7 @@ synonym: "neurological disorder" EXACT [DOID:863] xref: DOID:863 {source="EFO:0000618", source="MONDO:equivalentTo"} xref: EFO:0000618 {source="MONDO:equivalentTo"} xref: ICD10CM:G00-G09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:G00-G99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:G00-G99 {source="DOID:863", source="MONDO:equivalentTo"} +xref: ICD10CM:G00-G99 {source="DOID:863", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G89-G99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G98 {source="DOID:863"} xref: ICD10CM:G98.8 {source="DOID:863"} @@ -84787,28 +84769,28 @@ synonym: "neuroblastoma, malignant" EXACT [NCIT:C3270] xref: DOID:769 {source="MONDO:equivalentTo", source="EFO:0000621"} xref: EFO:0000621 {source="DOID:769", source="MONDO:equivalentTo"} xref: GARD:0007185 {source="MONDO:equivalentTo"} -xref: ICD10CM:C74.9 {source="Orphanet:635", source="ORDO:635/ntbt"} +xref: ICD10CM:C74.9 {source="Orphanet:635/ntbt", source="Orphanet:635"} xref: ICDO:9500/3 {source="NCIT:C3270"} -xref: MedDRA:10029260 {source="ORDO:635/e", source="Orphanet:635"} -xref: MESH:C536408 {source="ORDO:635/e", source="Orphanet:635"} -xref: MESH:D009447 {source="ORDO:635/e", source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="EFO:0000621"} +xref: MedDRA:10029260 {source="Orphanet:635", source="Orphanet:635/e"} +xref: MESH:C536408 {source="Orphanet:635", source="Orphanet:635/e"} +xref: MESH:D009447 {source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="EFO:0000621", source="Orphanet:635/e"} xref: NCIT:C3270 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"} xref: NIFSTD:birnlex_12631 {source="EFO:0000621"} -xref: OMIM:256700 {source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="EFO:0000621", source="ORDO:635/btnt"} -xref: OMIM:613013 {source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="EFO:0000621", source="ORDO:635/btnt"} -xref: OMIM:613014 {source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="EFO:0000621", source="ORDO:635/btnt"} -xref: OMIM:613015 {source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="ORDO:635/btnt"} -xref: OMIM:613016 {source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="ORDO:635/btnt"} -xref: OMIM:613017 {source="Orphanet:635", source="MONDO:superClassOf", source="ORDO:635/btnt"} -xref: OMIM:616792 {source="Orphanet:635", source="MONDO:superClassOf", source="ORDO:635/btnt"} +xref: OMIM:256700 {source="Orphanet:635/btnt", source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="EFO:0000621"} +xref: OMIM:613013 {source="Orphanet:635/btnt", source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="EFO:0000621"} +xref: OMIM:613014 {source="Orphanet:635/btnt", source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf", source="EFO:0000621"} +xref: OMIM:613015 {source="Orphanet:635/btnt", source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf"} +xref: OMIM:613016 {source="Orphanet:635/btnt", source="DOID:769", source="Orphanet:635", source="MONDO:superClassOf"} +xref: OMIM:613017 {source="Orphanet:635/btnt", source="Orphanet:635", source="MONDO:superClassOf"} +xref: OMIM:616792 {source="Orphanet:635/btnt", source="Orphanet:635", source="MONDO:superClassOf"} xref: ONCOTREE:NBL {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="DOID:769", source="MONDO:equivalentTo"} xref: SCTID:189931003 {source="DOID:769"} xref: SCTID:269507008 {source="DOID:769"} xref: SCTID:432328008 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"} xref: SCTID:87364003 {source="DOID:769", source="EFO:0000621"} -xref: UMLS:C0027819 {source="ORDO:635/e", source="NCIT:C3270", source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo"} -xref: UMLS:C2931189 {source="ORDO:635/e", source="Orphanet:635", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0027819 {source="NCIT:C3270", source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="Orphanet:635/e"} +xref: UMLS:C2931189 {source="Orphanet:635", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:635/e"} xref: UMLS:CN205405 {source="MONDO:equivalentTo"} is_a: MONDO:0006316 {source="NCIT:C3270"} ! neuroblastic tumor is_a: MONDO:0021635 {source="MONDO:cjm"} ! neurocristopathy @@ -84946,24 +84928,24 @@ synonym: "whooping cough" EXACT [DOID:1116] xref: DOID:1116 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: EFO:0000650 {source="MONDO:equivalentTo"} xref: GARD:0008692 {source="MONDO:equivalentTo"} -xref: ICD10CM:A37.0 {source="ORDO:1489/btnt", source="Orphanet:1489"} -xref: ICD10CM:A37.1 {source="ORDO:1489/btnt", source="Orphanet:1489", source="MONDO:directSiblingOf"} -xref: ICD10CM:A37.8 {source="ORDO:1489/btnt", source="Orphanet:1489"} -xref: ICD10CM:A37.9 {source="ORDO:1489/btnt", source="Orphanet:1489"} +xref: ICD10CM:A37.0 {source="Orphanet:1489", source="Orphanet:1489/btnt"} +xref: ICD10CM:A37.1 {source="Orphanet:1489", source="MONDO:directSiblingOf", source="Orphanet:1489/btnt"} +xref: ICD10CM:A37.8 {source="Orphanet:1489", source="Orphanet:1489/btnt"} +xref: ICD10CM:A37.9 {source="Orphanet:1489", source="Orphanet:1489/btnt"} xref: ICD9:033 {source="EFO:0000650"} xref: ICD9:033.0 {source="linkedlifedata"} xref: ICD9:033.9 {source="linkedlifedata"} xref: KEGG:05133 {source="MONDO:relatedTo", source="DOID:1116"} -xref: MedDRA:10034738 {source="ORDO:1489/e", source="Orphanet:1489"} -xref: MedDRA:10047974 {source="ORDO:1489/e", source="Orphanet:1489"} +xref: MedDRA:10034738 {source="Orphanet:1489", source="Orphanet:1489/e"} +xref: MedDRA:10047974 {source="Orphanet:1489", source="Orphanet:1489/e"} xref: MESH:D001885 {source="DOID:1116"} -xref: MESH:D014917 {source="ORDO:1489/e", source="EFO:0000650", source="MONDO:equivalentTo", source="Orphanet:1489", source="DOID:1116"} +xref: MESH:D014917 {source="EFO:0000650", source="MONDO:equivalentTo", source="Orphanet:1489", source="DOID:1116", source="Orphanet:1489/e"} xref: NCIT:C85231 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: Orphanet:1489 {source="MONDO:equivalentTo"} xref: SCTID:26484003 {source="MONDO:subClassOf", source="DOID:1116"} xref: SCTID:27836007 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: UMLS:C0006015 {source="DOID:1116"} -xref: UMLS:C0043167 {source="ORDO:1489/e", source="MONDO:equivalentTo", source="Orphanet:1489", source="NCIT:C85231"} +xref: UMLS:C0043167 {source="MONDO:equivalentTo", source="Orphanet:1489", source="NCIT:C85231", source="Orphanet:1489/e"} xref: UMLS:C0043168 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1489"} is_a: MONDO:0005113 {source="DOID:1116/inferred", source="MESH:D014917/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C85231", source="Orphanet:1489", source="indirect", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0037872 {source="MONDO:Redundant", source="linkedlifedata"} ! bordetellosis @@ -85043,27 +85025,27 @@ synonym: "toxaemia of pregnancy" EXACT [DOID:10591] xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"} xref: EFO:0000668 {source="MONDO:equivalentTo"} xref: ICD10CM:O14 {source="DOID:10591"} -xref: ICD10CM:O14.0 {source="ORDO:275555/btnt", source="Orphanet:275555"} -xref: ICD10CM:O14.1 {source="ORDO:275555/btnt", source="Orphanet:275555"} -xref: ICD10CM:O14.2 {source="ORDO:275555/btnt", source="Orphanet:275555"} -xref: ICD10CM:O14.9 {source="ORDO:275555/btnt", source="Orphanet:275555", source="DOID:10591"} +xref: ICD10CM:O14.0 {source="Orphanet:275555", source="Orphanet:275555/btnt"} +xref: ICD10CM:O14.1 {source="Orphanet:275555", source="Orphanet:275555/btnt"} +xref: ICD10CM:O14.2 {source="Orphanet:275555", source="Orphanet:275555/btnt"} +xref: ICD10CM:O14.9 {source="Orphanet:275555", source="DOID:10591", source="Orphanet:275555/btnt"} xref: ICD10CM:O14.90 {source="DOID:10591"} xref: ICD9:642.40 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:642.41 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:642.42 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:642.43 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:642.44 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036485 {source="Orphanet:275555", source="ORDO:275555/e"} +xref: MedDRA:10036485 {source="Orphanet:275555", source="Orphanet:275555/e"} xref: MESH:D011225 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"} xref: MESH:D014115 {source="EFO:0000668"} xref: NCIT:C34943 {source="DOID:10591"} xref: NCIT:C85021 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"} -xref: OMIM:189800 {source="Orphanet:275555", source="MONDO:superClassOf", source="ORDO:275555/e", source="DOID:10591", source="EFO:0000668"} -xref: OMIM:609402 {source="ORDO:275555/btnt", source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591"} -xref: OMIM:609403 {source="ORDO:275555/btnt", source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591"} -xref: OMIM:609404 {source="ORDO:275555/btnt", source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591", source="EFO:0000668"} +xref: OMIM:189800 {source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591", source="EFO:0000668", source="Orphanet:275555/e"} +xref: OMIM:609402 {source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591", source="Orphanet:275555/btnt"} +xref: OMIM:609403 {source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591", source="Orphanet:275555/btnt"} +xref: OMIM:609404 {source="Orphanet:275555", source="MONDO:superClassOf", source="DOID:10591", source="EFO:0000668", source="Orphanet:275555/btnt"} xref: OMIM:614592 {source="MONDO:relatedTo", source="DOID:10591"} -xref: OMIM:614595 {source="ORDO:275555/btnt", source="Orphanet:275555", source="MONDO:superClassOf", source="EFO:0000668"} +xref: OMIM:614595 {source="Orphanet:275555", source="MONDO:superClassOf", source="EFO:0000668", source="Orphanet:275555/btnt"} xref: OMIMPS:189800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="MONDO:equivalentTo", source="DOID:10591"} xref: SCTID:15394000 {source="DOID:10591", source="EFO:0000668"} @@ -85078,7 +85060,7 @@ xref: SCTID:288201007 {source="DOID:10591"} xref: SCTID:398254007 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"} xref: SCTID:46764007 {source="DOID:10591"} xref: SCTID:6758009 {source="DOID:10591"} -xref: UMLS:C0032914 {source="Orphanet:275555", source="MONDO:notFoundInDiseaseSubset", source="ORDO:275555/e", source="DOID:10591"} +xref: UMLS:C0032914 {source="Orphanet:275555", source="MONDO:notFoundInDiseaseSubset", source="DOID:10591", source="Orphanet:275555/e"} is_a: MONDO:0005044 {source="DOID:10591", source="EFO:0000668", source="MESH:D011225/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! hypertensive disorder is_a: MONDO:0024575 {source="Orphanet:275555"} ! pregnancy disorder is_a: MONDO:0024664 {source="MESH:D011225", source="NCIT:C85021/inferred", source="linkedlifedata"} ! hypertension, pregnancy-induced @@ -85224,8 +85206,8 @@ xref: EFO:0000681 {source="MONDO:equivalentTo", source="DOID:4450"} xref: GARD:0013215 {source="MONDO:equivalentTo"} xref: HP:0005584 {source="MONDO:otherHierarchy"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10067946 {source="ORDO:217071/e", source="Orphanet:217071"} -xref: MESH:D002292 {source="ORDO:217071/e", source="EFO:0000681", source="Orphanet:217071", source="MONDO:equivalentTo", source="DOID:4450"} +xref: MedDRA:10067946 {source="Orphanet:217071", source="Orphanet:217071/e"} +xref: MESH:D002292 {source="EFO:0000681", source="Orphanet:217071", source="MONDO:equivalentTo", source="Orphanet:217071/e", source="DOID:4450"} xref: NCIT:C9385 {source="EFO:0000681", source="GARD:0013215", source="MONDO:directSiblingOf", source="DOID:4450"} xref: OMIM:144700 {source="EFO:0000681", source="MONDO:superClassOf"} xref: OMIM:300854 {source="EFO:0000681", source="MONDO:superClassOf", source="DOID:4450"} @@ -85234,7 +85216,7 @@ xref: Orphanet:217071 {source="MONDO:equivalentTo"} xref: SCTID:254915003 {source="MONDO:superClassOf", source="DOID:4450"} xref: SCTID:41607009 {source="EFO:0000681", source="DOID:4450"} xref: SCTID:702391001 {source="EFO:0000681", source="MONDO:equivalentTo", source="DOID:4450"} -xref: UMLS:C0007134 {source="ORDO:217071/e", source="Orphanet:217071", source="MONDO:notFoundInDiseaseSubset", source="DOID:4450"} +xref: UMLS:C0007134 {source="Orphanet:217071", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:217071/e", source="DOID:4450"} is_a: MONDO:0004970 {source="DOID:4450", source="MESH:D002292", source="MONDO:Redundant", source="linkedlifedata"} ! adenocarcinoma is_a: MONDO:0005206 {source="DOID:4450", source="EFO:0000681", source="MONDO:Redundant"} ! renal carcinoma is_a: MONDO:0021163 {source="Orphanet:217071"} ! kidney neoplasm @@ -85258,8 +85240,7 @@ synonym: "respiratory system disorder" EXACT [NCIT:C26871] xref: DOID:1579 {source="EFO:0000684", source="MONDO:equivalentTo"} xref: EFO:0000684 {source="MONDO:equivalentTo"} xref: ICD10CM:J00-J99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:J96-J99 {source="DOID:1579"} -xref: ICD10CM:J96-J99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:J96-J99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="DOID:1579", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:J98 {source="DOID:1579"} xref: ICD10CM:P19-P29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:Q30-Q34 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -85393,12 +85374,12 @@ xref: EFO:0000694 {source="MONDO:equivalentTo"} xref: GARD:0009237 {source="MONDO:equivalentTo"} xref: ICD10CM:J12.81 {source="DOID:2945"} xref: ICD9:079.82 {source="EFO:0000694", source="DOID:2945"} -xref: MedDRA:10061982 {source="ORDO:140896/e", source="Orphanet:140896"} -xref: MESH:D045169 {source="MONDO:relatedTo", source="EFO:0000694", source="MONDO:equivalentTo", source="ORDO:140896/e", source="DOID:2945", source="Orphanet:140896"} +xref: MedDRA:10061982 {source="Orphanet:140896/e", source="Orphanet:140896"} +xref: MESH:D045169 {source="Orphanet:140896/e", source="MONDO:relatedTo", source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945", source="Orphanet:140896"} xref: NCIT:C85064 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"} xref: Orphanet:140896 {source="MONDO:equivalentTo"} xref: SCTID:398447004 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"} -xref: UMLS:C1175175 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="NCIT:C85064", source="ORDO:140896/e", source="DOID:2945", source="Orphanet:140896"} +xref: UMLS:C1175175 {source="Orphanet:140896/e", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="NCIT:C85064", source="DOID:2945", source="Orphanet:140896"} is_a: MONDO:0005087 {source="MESH:D045169/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disorder is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -85664,16 +85645,16 @@ synonym: "systemic sclerosis" EXACT [DOID:418, ICD9CM:710.1, MONDO:0019564, NCIT xref: DOID:418 {source="EFO:0000717", source="MONDO:equivalentTo"} xref: EFO:0000717 {source="MONDO:equivalentTo", source="DOID:418"} xref: GARD:0009748 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M34.0 {source="DOID:418", source="ORDO:90291/btnt", source="Orphanet:90291"} -xref: ICD10CM:M34.1 {source="ORDO:90291/btnt", source="Orphanet:90291"} -xref: ICD10CM:M34.2 {source="ORDO:90291/btnt", source="Orphanet:90291"} -xref: ICD10CM:M34.8 {source="ORDO:90291/btnt", source="Orphanet:90291"} -xref: ICD10CM:M34.9 {source="DOID:418", source="ORDO:90291/btnt", source="Orphanet:90291"} +xref: ICD10CM:M34.0 {source="DOID:418", source="Orphanet:90291/btnt", source="Orphanet:90291"} +xref: ICD10CM:M34.1 {source="Orphanet:90291/btnt", source="Orphanet:90291"} +xref: ICD10CM:M34.2 {source="Orphanet:90291/btnt", source="Orphanet:90291"} +xref: ICD10CM:M34.8 {source="Orphanet:90291/btnt", source="Orphanet:90291"} +xref: ICD10CM:M34.9 {source="DOID:418", source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: ICD9:710.1 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418", source="i2s"} -xref: MedDRA:10042953 {source="ORDO:90291/e", source="Orphanet:90291"} +xref: MedDRA:10042953 {source="Orphanet:90291/e", source="Orphanet:90291"} xref: MESH:D012595 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"} xref: NCIT:C72070 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"} -xref: OMIM:181750 {source="DOID:418", source="MONDO:superClassOf", source="ORDO:90291/btnt", source="Orphanet:90291"} +xref: OMIM:181750 {source="DOID:418", source="MONDO:superClassOf", source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: Orphanet:90291 {source="MONDO:equivalentTo"} xref: SCTID:128457007 {source="DOID:418"} xref: SCTID:156451000 {source="DOID:418"} @@ -85762,12 +85743,12 @@ synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250] synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250] synonym: "well-differentiated liposarcoma" EXACT [NCIT:C4250] xref: EFO:0000736 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:99971/ntbt", source="Orphanet:99971"} +xref: ICD10CM:C49.9 {source="Orphanet:99971/ntbt", source="Orphanet:99971"} xref: ICDO:8851/3 {source="NCIT:C4250"} xref: NCIT:C4250 {source="MONDO:equivalentTo", source="EFO:0000736"} xref: ONCOTREE:WDLS {source="MONDO:equivalentTo"} xref: Orphanet:99971 {source="MONDO:equivalentTo"} -xref: UMLS:C1370889 {source="NCIT:C4250", source="MONDO:equivalentTo", source="ORDO:99971/e", source="Orphanet:99971"} +xref: UMLS:C1370889 {source="NCIT:C4250", source="Orphanet:99971/e", source="MONDO:equivalentTo", source="Orphanet:99971"} is_a: MONDO:0005060 {source="EFO:0000736", source="NCIT:C4250", source="ONCOTREE:WDLS", source="Orphanet:99971"} ! liposarcoma relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue @@ -85927,8 +85908,7 @@ synonym: "human immunodeficiency virus infectious disease" RELATED [DOID:526] xref: DOID:526 {source="MONDO:equivalentTo", source="EFO:0000764"} xref: EFO:0000764 {source="MONDO:equivalentTo"} xref: ICD10CM:B20 {source="DOID:526"} -xref: ICD10CM:B20-B20 {source="DOID:526", source="MONDO:equivalentTo"} -xref: ICD10CM:B20-B20 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:B20-B20 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:526", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:042 {source="DOID:526", source="MONDO:equivalentTo", source="i2s", source="EFO:0000764"} xref: ICD9:042-042.99 {source="DOID:526", source="EFO:0000764"} xref: MESH:D015658 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"} @@ -86117,17 +86097,17 @@ xref: DOID:8476 {source="MONDO:equivalentTo", source="EFO:0000775"} xref: EFO:0000775 {source="MONDO:equivalentTo"} xref: GARD:0007889 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:K90.81 {source="MONDO:equivalentTo", source="DOID:8476"} -xref: ICD10EXP:K90.8+ {source="Orphanet:3452", source="ORDO:3452/ntbt"} -xref: ICD10EXP:M14.8* {source="Orphanet:3452", source="ORDO:3452/ntbt"} +xref: ICD10EXP:K90.8+ {source="Orphanet:3452", source="Orphanet:3452/ntbt"} +xref: ICD10EXP:M14.8* {source="Orphanet:3452", source="Orphanet:3452/ntbt"} xref: ICD9:040.2 {source="MONDO:equivalentTo", source="i2s", source="EFO:0000775", source="DOID:8476"} -xref: MedDRA:10047931 {source="Orphanet:3452", source="ORDO:3452/e"} -xref: MESH:C531849 {source="Orphanet:3452", source="ORDO:3452/e"} -xref: MESH:D008061 {source="Orphanet:3452", source="MONDO:equivalentTo", source="EFO:0000775", source="ORDO:3452/e", source="DOID:8476"} +xref: MedDRA:10047931 {source="Orphanet:3452", source="Orphanet:3452/e"} +xref: MESH:C531849 {source="Orphanet:3452", source="Orphanet:3452/e"} +xref: MESH:D008061 {source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e", source="EFO:0000775", source="DOID:8476"} xref: NCIT:C85228 {source="MONDO:equivalentTo", source="EFO:0000775", source="DOID:8476"} xref: Orphanet:3452 {source="MONDO:equivalentTo"} xref: SCTID:41545003 {source="MONDO:equivalentTo", source="EFO:0000775", source="DOID:8476"} -xref: UMLS:C0023788 {source="NCIT:C85228", source="Orphanet:3452", source="MONDO:equivalentTo", source="ORDO:3452/e", source="DOID:8476"} -xref: UMLS:C2930851 {source="Orphanet:3452", source="MONDO:equivalentTo", source="ORDO:3452/e"} +xref: UMLS:C0023788 {source="NCIT:C85228", source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e", source="DOID:8476"} +xref: UMLS:C2930851 {source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e"} xref: UMLS:CN204440 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="DOID:8476", source="MESH:D008061/inferred", source="MONDO:Redundant", source="Orphanet:3452", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disorder is_a: MONDO:0005113 {source="EFO:0000775", source="MESH:D008061/inferred", source="MONDO:Redundant", source="NCIT:C85228", source="Orphanet:3452", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease @@ -86266,33 +86246,33 @@ xref: DOID:1024 {source="EFO:0001054", source="MONDO:equivalentTo"} xref: EFO:0001054 {source="DOID:1024", source="MONDO:equivalentTo"} xref: GARD:0006886 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:A30 {source="DOID:1024", source="MONDO:equivalentTo"} -xref: ICD10CM:A30.0 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: ICD10CM:A30.1 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: ICD10CM:A30.2 {source="Orphanet:548", source="ORDO:548/btnt"} -xref: ICD10CM:A30.3 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: ICD10CM:A30.4 {source="Orphanet:548", source="ORDO:548/btnt"} -xref: ICD10CM:A30.5 {source="Orphanet:548", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: ICD10CM:A30.8 {source="Orphanet:548", source="ORDO:548/btnt"} -xref: ICD10CM:A30.9 {source="Orphanet:548", source="DOID:1024", source="ORDO:548/btnt"} +xref: ICD10CM:A30.0 {source="Orphanet:548/btnt", source="Orphanet:548", source="MONDO:superClassOf"} +xref: ICD10CM:A30.1 {source="Orphanet:548/btnt", source="Orphanet:548", source="MONDO:superClassOf"} +xref: ICD10CM:A30.2 {source="Orphanet:548/btnt", source="Orphanet:548"} +xref: ICD10CM:A30.3 {source="Orphanet:548/btnt", source="Orphanet:548", source="MONDO:superClassOf"} +xref: ICD10CM:A30.4 {source="Orphanet:548/btnt", source="Orphanet:548"} +xref: ICD10CM:A30.5 {source="Orphanet:548/btnt", source="Orphanet:548", source="MONDO:superClassOf"} +xref: ICD10CM:A30.8 {source="Orphanet:548/btnt", source="Orphanet:548"} +xref: ICD10CM:A30.9 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024"} xref: ICD9:030 {source="EFO:0001054", source="DOID:1024"} xref: ICD9:030.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:030.9 {source="DOID:1024", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10024229 {source="ORDO:548/e", source="Orphanet:548"} -xref: MESH:D007918 {source="EFO:0001054", source="ORDO:548/e", source="Orphanet:548", source="DOID:1024", source="MONDO:equivalentTo"} +xref: MedDRA:10024229 {source="Orphanet:548", source="Orphanet:548/e"} +xref: MESH:D007918 {source="EFO:0001054", source="Orphanet:548", source="DOID:1024", source="MONDO:equivalentTo", source="Orphanet:548/e"} xref: NCIT:C84824 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo"} -xref: OMIM:246300 {source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: OMIM:607572 {source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: OMIM:609888 {source="ORDO:548/e", source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf"} -xref: OMIM:610988 {source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: OMIM:613223 {source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf", source="ORDO:548/btnt"} -xref: OMIM:613407 {source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf", source="ORDO:548/btnt"} +xref: OMIM:246300 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf"} +xref: OMIM:607572 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf"} +xref: OMIM:609888 {source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf", source="Orphanet:548/e"} +xref: OMIM:610988 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf"} +xref: OMIM:613223 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf"} +xref: OMIM:613407 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024", source="MONDO:superClassOf"} xref: Orphanet:548 {source="DOID:1024", source="MONDO:equivalentTo"} xref: SCTID:154298007 {source="DOID:1024"} xref: SCTID:186339006 {source="DOID:1024"} xref: SCTID:187316006 {source="DOID:1024"} xref: SCTID:266184007 {source="DOID:1024"} xref: SCTID:81004002 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo"} -xref: UMLS:C0023343 {source="ORDO:548/e", source="Orphanet:548", source="DOID:1024", source="NCIT:C84824", source="MONDO:equivalentTo"} +xref: UMLS:C0023343 {source="Orphanet:548", source="DOID:1024", source="NCIT:C84824", source="MONDO:equivalentTo", source="Orphanet:548/e"} is_a: MONDO:0000314 {source="DOID:1024"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:1024/inferred", source="EFO:0001054", source="MESH:D007918/inferred", source="MONDO:Redundant", source="NCIT:C84824/inferred", source="Orphanet:548", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0005372 ! male infertility @@ -86604,27 +86584,27 @@ synonym: "plasmodiosis" RELATED [] xref: DOID:12365 {source="EFO:0001068", source="MONDO:equivalentTo"} xref: EFO:0001068 {source="MONDO:equivalentTo", source="DOID:12365"} xref: GARD:0006961 {source="MONDO:equivalentTo"} -xref: ICD10CM:B50.0 {source="ORDO:673/btnt"} -xref: ICD10CM:B50.8 {source="ORDO:673/btnt"} -xref: ICD10CM:B50.9 {source="ORDO:673/btnt"} -xref: ICD10CM:B51.0 {source="ORDO:673/btnt"} -xref: ICD10CM:B51.8 {source="ORDO:673/btnt"} -xref: ICD10CM:B51.9 {source="ORDO:673/btnt"} -xref: ICD10CM:B52.0 {source="ORDO:673/btnt"} -xref: ICD10CM:B52.8 {source="ORDO:673/btnt"} -xref: ICD10CM:B52.9 {source="ORDO:673/btnt"} +xref: ICD10CM:B50.0 {source="Orphanet:673/btnt"} +xref: ICD10CM:B50.8 {source="Orphanet:673/btnt"} +xref: ICD10CM:B50.9 {source="Orphanet:673/btnt"} +xref: ICD10CM:B51.0 {source="Orphanet:673/btnt"} +xref: ICD10CM:B51.8 {source="Orphanet:673/btnt"} +xref: ICD10CM:B51.9 {source="Orphanet:673/btnt"} +xref: ICD10CM:B52.0 {source="Orphanet:673/btnt"} +xref: ICD10CM:B52.8 {source="Orphanet:673/btnt"} +xref: ICD10CM:B52.9 {source="Orphanet:673/btnt"} xref: ICD10CM:B53 {source="MONDO:cjm", source="MONDO:equivalentTo"} -xref: ICD10CM:B53.0 {source="ORDO:673/btnt", source="MONDO:relatedTo"} -xref: ICD10CM:B53.1 {source="ORDO:673/btnt"} -xref: ICD10CM:B53.8 {source="ORDO:673/btnt"} -xref: ICD10CM:B54 {source="ORDO:673/btnt", source="MONDO:cjm", source="MONDO:superClassOf", source="DOID:12365", source="Orphanet:673"} +xref: ICD10CM:B53.0 {source="MONDO:relatedTo", source="Orphanet:673/btnt"} +xref: ICD10CM:B53.1 {source="Orphanet:673/btnt"} +xref: ICD10CM:B53.8 {source="Orphanet:673/btnt"} +xref: ICD10CM:B54 {source="MONDO:cjm", source="Orphanet:673/btnt", source="MONDO:superClassOf", source="DOID:12365", source="Orphanet:673"} xref: ICD9:084 {source="EFO:0001068", source="DOID:12365"} xref: ICD9:084.6 {source="DOID:12365"} -xref: MedDRA:10025487 {source="ORDO:673/e", source="Orphanet:673"} -xref: MESH:D008288 {source="EFO:0001068", source="MONDO:equivalentTo", source="ORDO:673/e", source="DOID:12365", source="Orphanet:673"} +xref: MedDRA:10025487 {source="Orphanet:673/e", source="Orphanet:673"} +xref: MESH:D008288 {source="EFO:0001068", source="Orphanet:673/e", source="MONDO:equivalentTo", source="DOID:12365", source="Orphanet:673"} xref: NCIT:C34797 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} xref: OMIM:609148 {source="MONDO:superClassOf", source="DOID:12365"} -xref: OMIM:611162 {source="MONDO:superClassOf", source="ORDO:673/e"} +xref: OMIM:611162 {source="Orphanet:673/e", source="MONDO:superClassOf"} xref: Orphanet:673 {source="MONDO:equivalentTo", source="OMIM:611162"} xref: SCTID:105649009 {source="DOID:12365"} xref: SCTID:154374002 {source="DOID:12365"} @@ -86632,7 +86612,7 @@ xref: SCTID:186797008 {source="DOID:12365"} xref: SCTID:187510004 {source="DOID:12365"} xref: SCTID:248437004 {source="DOID:12365"} xref: SCTID:61462000 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} -xref: UMLS:C0024530 {source="MONDO:equivalentTo", source="ORDO:673/e", source="NCIT:C34797", source="DOID:12365", source="Orphanet:673"} +xref: UMLS:C0024530 {source="Orphanet:673/e", source="MONDO:equivalentTo", source="NCIT:C34797", source="DOID:12365", source="Orphanet:673"} is_a: MONDO:0002428 {source="DOID:12365", source="MESH:D008288"} ! protozoa infectious disease is_a: MONDO:0005135 {source="DOID:12365/inferred", source="EFO:0001068", source="MESH:D008288/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C34797", source="Orphanet:673", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -86779,27 +86759,27 @@ name: familial amyotrophic lateral sclerosis def: "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "hereditary amyotrophic lateral sclerosis" EXACT [MONDO:patterns/hereditary] xref: EFO:0001356 {source="MONDO:equivalentTo"} -xref: OMIM:105400 {source="ORDO:803/e", source="MONDO:superClassOf"} +xref: OMIM:105400 {source="MONDO:superClassOf", source="Orphanet:803/e"} xref: OMIM:205100 {source="EFO:0001356", source="MONDO:superClassOf"} -xref: OMIM:205250 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:300857 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:606070 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:606640 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:608030 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:608031 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:608627 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:611895 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:612069 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:612577 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:613435 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:613954 {source="ORDO:803/btnt", source="MONDO:superClassOf"} +xref: OMIM:205250 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:300857 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:606070 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:606640 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:608030 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:608031 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:608627 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:611895 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:612069 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:612577 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:613435 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:613954 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} xref: OMIM:614373 {source="EFO:0001356", source="MONDO:superClassOf"} -xref: OMIM:614696 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:614808 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:615426 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:615515 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:616208 {source="ORDO:803/btnt", source="MONDO:superClassOf"} -xref: OMIM:616437 {source="MONDO:relatedTo", source="ORDO:803/btnt"} +xref: OMIM:614696 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:614808 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:615426 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:615515 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:616208 {source="MONDO:superClassOf", source="Orphanet:803/btnt"} +xref: OMIM:616437 {source="MONDO:relatedTo", source="Orphanet:803/btnt"} xref: OMIMPS:105400 {source="MONDO:equivalentTo", source="DOID:332"} is_a: MONDO:0004976 {source="EFO:0001356", source="MONDO:Redundant"} ! amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis @@ -87120,8 +87100,7 @@ synonym: "liver disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns synonym: "liver disorder" EXACT [NCIT:C3196] xref: DOID:409 {source="EFO:0001421", source="MONDO:equivalentTo"} xref: EFO:0001421 {source="MONDO:equivalentTo"} -xref: ICD10CM:K70-K77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:K70-K77 {source="DOID:409"} +xref: ICD10CM:K70-K77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:409", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:K76.9 {source="DOID:409"} xref: ICD9:573.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:573.9 {source="EFO:0001421", source="MONDO:equivalentTo", source="i2s", source="DOID:409"} @@ -87368,21 +87347,21 @@ xref: DOID:3355 {source="EFO:0002087", source="MONDO:equivalentTo"} xref: EFO:0002087 {source="MONDO:equivalentTo"} xref: GARD:0002327 {source="MONDO:equivalentTo"} xref: HP:0100244 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="Orphanet:2030", source="ORDO:2030/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:2030/ntbt", source="Orphanet:2030"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8810/3 {source="NCIT:C3043"} -xref: MedDRA:10016632 {source="Orphanet:2030", source="ORDO:2030/e"} -xref: MESH:D005354 {source="EFO:0002087", source="DOID:3355", source="Orphanet:2030", source="ORDO:2030/e"} +xref: MedDRA:10016632 {source="Orphanet:2030/e", source="Orphanet:2030"} +xref: MESH:D005354 {source="EFO:0002087", source="DOID:3355", source="Orphanet:2030/e", source="Orphanet:2030"} xref: MESH:D018218 {source="DOID:3355"} xref: NCIT:C3043 {source="EFO:0002087", source="DOID:3355", source="MONDO:equivalentTo"} xref: NCIT:C6605 {source="DOID:3355"} xref: NCIT:C7075 {source="MONDO:subClassOf", source="DOID:3355"} -xref: OMIM:117600 {source="MONDO:superClassOf", source="Orphanet:2030", source="ORDO:2030/btnt"} +xref: OMIM:117600 {source="MONDO:superClassOf", source="Orphanet:2030/btnt", source="Orphanet:2030"} xref: ONCOTREE:FIBS {source="MONDO:equivalentTo"} xref: Orphanet:2030 {source="MONDO:equivalentTo"} xref: SCTID:443250000 {source="DOID:3355", source="MONDO:equivalentTo"} xref: SCTID:53654007 {source="EFO:0002087", source="DOID:3355"} -xref: UMLS:C0016057 {source="DOID:3355", source="NCIT:C3043", source="GARD:0002327", source="MONDO:equivalentTo", source="Orphanet:2030", source="ORDO:2030/e"} +xref: UMLS:C0016057 {source="DOID:3355", source="Orphanet:2030/e", source="NCIT:C3043", source="GARD:0002327", source="MONDO:equivalentTo", source="Orphanet:2030"} xref: UMLS:C0206643 {source="DOID:3355", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1336021 {source="DOID:3355", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005089 {source="EFO:0002087", source="MONDO:Redundant", source="NCIT:C3043", source="indirect"} ! sarcoma @@ -87408,8 +87387,7 @@ xref: DOID:0060072 {source="EFO:0002422", source="MONDO:equivalentTo", source="M xref: DOID:0060084 {source="MONDO:equivalentTo"} xref: DOID:0060085 {source="MONDO:equivalentTo"} xref: EFO:0002422 {source="MONDO:equivalentTo"} -xref: ICD10CM:D10-D36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:D10-D36 {source="MONDO:equivalentTo"} +xref: ICD10CM:D10-D36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:210-229.99 {source="EFO:0002422"} xref: ICD9:229.8 {source="i2s"} xref: ICD9:229.9 {source="i2s"} @@ -88050,11 +88028,11 @@ synonym: "vulva intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583] xref: EFO:0002627 {source="MONDO:equivalentTo"} -xref: ICD10CM:D07.1 {source="Orphanet:137583", source="ORDO:137583/ntbt"} +xref: ICD10CM:D07.1 {source="Orphanet:137583/ntbt", source="Orphanet:137583"} xref: NCIT:C4756 {source="MONDO:equivalentTo", source="EFO:0002627"} xref: Orphanet:137583 {source="MONDO:equivalentTo"} xref: SCTID:399382009 {source="EFO:0002627"} -xref: UMLS:C0346210 {source="MONDO:equivalentTo", source="Orphanet:137583", source="NCIT:C4756", source="ORDO:137583/e"} +xref: UMLS:C0346210 {source="Orphanet:137583/e", source="MONDO:equivalentTo", source="Orphanet:137583", source="NCIT:C4756"} is_a: MONDO:0002195 {source="NCIT:C4756"} ! vulvar squamous neoplasm is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm @@ -88092,8 +88070,8 @@ xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"} xref: EFO:0002630 {source="MONDO:equivalentTo"} xref: ICD10CM:I42.5 {source="DOID:397"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10038748 {source="Orphanet:217632", source="ORDO:217632/e"} -xref: MESH:D002313 {source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632", source="ORDO:217632/e"} +xref: MedDRA:10038748 {source="Orphanet:217632/e", source="Orphanet:217632"} +xref: MESH:D002313 {source="Orphanet:217632/e", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632"} xref: NCIT:C62798 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"} xref: OMIM:115210 {source="MONDO:superClassOf", source="DOID:397"} xref: OMIM:609578 {source="MONDO:superClassOf", source="DOID:397"} @@ -88104,7 +88082,7 @@ xref: Orphanet:75249 {source="MONDO:superClassOf", source="DOID:397"} xref: SCTID:389996009 {source="DOID:397"} xref: SCTID:415295002 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"} xref: SCTID:90828009 {source="DOID:397"} -xref: UMLS:C0007196 {source="NCIT:C62798", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632", source="ORDO:217632/e"} +xref: UMLS:C0007196 {source="NCIT:C62798", source="Orphanet:217632/e", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632"} is_a: MONDO:0000591 {source="DOID:397", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy [Term] @@ -88268,13 +88246,13 @@ synonym: "uterus sarcoma" EXACT [NCIT:C6339] xref: DOID:5165 {source="MONDO:equivalentTo", source="EFO:0002914"} xref: EFO:0002914 {source="MONDO:equivalentTo"} xref: GARD:0009383 {source="MONDO:equivalentTo"} -xref: ICD10CM:C54.2 {source="Orphanet:213620", source="ORDO:213620/ntbt"} -xref: MedDRA:10039497 {source="ORDO:213620/e", source="Orphanet:213620"} +xref: ICD10CM:C54.2 {source="Orphanet:213620/ntbt", source="Orphanet:213620"} +xref: MedDRA:10039497 {source="Orphanet:213620", source="Orphanet:213620/e"} xref: NCIT:C6339 {source="MONDO:equivalentTo", source="EFO:0002914", source="DOID:5165"} xref: ONCOTREE:USARC {source="MONDO:equivalentTo"} xref: Orphanet:213620 {source="MONDO:equivalentTo"} xref: SCTID:254877001 {source="MONDO:equivalentTo", source="DOID:5165"} -xref: UMLS:C0338113 {source="ORDO:213620/e", source="Orphanet:213620", source="MONDO:equivalentTo", source="NCIT:C6339", source="DOID:5165"} +xref: UMLS:C0338113 {source="Orphanet:213620", source="MONDO:equivalentTo", source="Orphanet:213620/e", source="NCIT:C6339", source="DOID:5165"} is_a: MONDO:0004992 {source="Orphanet:213620"} ! cancer is_a: MONDO:0005089 {source="DOID:5165", source="EFO:0002914", source="MONDO:Redundant", source="NCIT:C6339/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma is_a: MONDO:0006003 {source="DOID:5165", source="MONDO:Entailed", source="indirect"} ! uterine corpus cancer @@ -88322,20 +88300,20 @@ synonym: "rhabdomyosarcoma, NOS" RELATED EXCLUDE [NCIT:C3359] xref: DOID:3247 {source="EFO:0002918", source="MONDO:equivalentTo"} xref: EFO:0002918 {source="MONDO:equivalentTo"} xref: HP:0002859 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="ORDO:780/ntbt", source="Orphanet:780"} +xref: ICD10CM:C49.9 {source="Orphanet:780", source="Orphanet:780/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8900/3 {source="NCIT:C3359"} -xref: MedDRA:10039022 {source="ORDO:780/e", source="Orphanet:780"} -xref: MESH:D012208 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo", source="ORDO:780/e", source="Orphanet:780"} +xref: MedDRA:10039022 {source="Orphanet:780/e", source="Orphanet:780"} +xref: MESH:D012208 {source="EFO:0002918", source="Orphanet:780/e", source="DOID:3247", source="MONDO:equivalentTo", source="Orphanet:780"} xref: NCIT:C3359 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"} -xref: OMIM:268210 {source="ORDO:780/btnt", source="MONDO:superClassOf", source="Orphanet:780"} -xref: OMIM:268220 {source="ORDO:780/btnt", source="MONDO:superClassOf", source="Orphanet:780"} +xref: OMIM:268210 {source="MONDO:superClassOf", source="Orphanet:780", source="Orphanet:780/btnt"} +xref: OMIM:268220 {source="MONDO:superClassOf", source="Orphanet:780", source="Orphanet:780/btnt"} xref: ONCOTREE:RMS {source="MONDO:equivalentTo"} xref: Orphanet:780 {source="MONDO:equivalentTo"} xref: SCTID:134166003 {source="DOID:3247"} xref: SCTID:302847003 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"} xref: SCTID:30924005 {source="EFO:0002918", source="DOID:3247"} -xref: UMLS:C0035412 {source="DOID:3247", source="MONDO:equivalentTo", source="ORDO:780/e", source="Orphanet:780", source="NCIT:C3359"} +xref: UMLS:C0035412 {source="Orphanet:780/e", source="DOID:3247", source="MONDO:equivalentTo", source="Orphanet:780", source="NCIT:C3359"} is_a: MONDO:0002847 {source="DOID:3247", source="MONDO:Redundant", source="NCIT:C3359"} ! skeletal muscle cancer is_a: MONDO:0005089 {source="EFO:0002918", source="MESH:D012208/inferred", source="MONDO:Redundant", source="NCIT:C3359/inferred", source="linkedlifedata"} ! sarcoma is_a: MONDO:0016123 {source="Orphanet:780"} ! muscular tumor @@ -88525,14 +88503,14 @@ synonym: "renal medullary carcinoma" EXACT [DOID:4464, NCIT:C7572] xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"} xref: EFO:0003016 {source="MONDO:equivalentTo"} xref: GARD:0009573 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C64 {source="Orphanet:247203", source="ORDO:247203/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:247203/ntbt", source="Orphanet:247203"} xref: ICDO:8319/3 {source="NCIT:C6194"} -xref: MESH:D002292 {source="DOID:4464", source="MONDO:subClassOf", source="ORDO:247203/e", source="Orphanet:247203"} +xref: MESH:D002292 {source="DOID:4464", source="MONDO:subClassOf", source="Orphanet:247203", source="Orphanet:247203/e"} xref: NCIT:C6194 {source="DOID:4464", source="EFO:0003016", source="MONDO:equivalentTo"} xref: ONCOTREE:CDRCC {source="MONDO:equivalentTo"} xref: Orphanet:247203 {source="MONDO:equivalentTo"} xref: SCTID:128669006 {source="DOID:4464", source="EFO:0003016"} -xref: UMLS:C1266044 {source="DOID:4464", source="ORDO:247203/e", source="Orphanet:247203", source="MONDO:equivalentTo", source="NCIT:C6194"} +xref: UMLS:C1266044 {source="DOID:4464", source="Orphanet:247203", source="MONDO:equivalentTo", source="Orphanet:247203/e", source="NCIT:C6194"} is_a: MONDO:0005086 {source="DOID:4464", source="EFO:0003016", source="ONCOTREE:CDRCC/inferred", source="Orphanet:247203"} ! renal cell carcinoma is_a: MONDO:0005206 {source="DOID:4464/inferred", source="EFO:0003016/inferred", source="MONDO:0005220/inferred", source="MONDO:Redundant", source="NCIT:C6194", source="indirect"} ! renal carcinoma intersection_of: MONDO:0004993 ! carcinoma @@ -88592,7 +88570,7 @@ synonym: "M0 myeloid leukemia" EXACT [NCIT:C8460] synonym: "M0 myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "minimally differentiated acute myeloblastic leukemia" EXACT [Orphanet:98832] xref: EFO:0003026 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.0 {source="Orphanet:98832", source="ORDO:98832/ntbt"} +xref: ICD10CM:C92.0 {source="Orphanet:98832/ntbt", source="Orphanet:98832"} xref: ICDO:9872/3 {source="NCIT:C8460"} xref: NCIT:C8460 {source="EFO:0003026", source="MONDO:equivalentTo"} xref: ONCOTREE:AMLMD {source="MONDO:equivalentTo"} @@ -88631,7 +88609,7 @@ synonym: "M1 acute myeloid leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloid leukemia without maturation" EXACT [NCIT:C3249] xref: EFO:0003027 {source="MONDO:equivalentTo"} xref: GARD:0000526 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.0 {source="Orphanet:98833", source="ORDO:98833/ntbt"} +xref: ICD10CM:C92.0 {source="Orphanet:98833/ntbt", source="Orphanet:98833"} xref: ICDO:9873/3 {source="NCIT:C3249"} xref: NCIT:C3249 {source="EFO:0003027", source="MONDO:equivalentTo"} xref: ONCOTREE:AWM {source="MONDO:equivalentTo"} @@ -89545,13 +89523,13 @@ synonym: "RA" EXACT ABBREVIATION [NCIT:C2872] xref: EFO:0003802 {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9980/3 {source="NCIT:C2872"} -xref: MedDRA:10038269 {source="ORDO:98826/e", source="Orphanet:98826"} -xref: MESH:D000753 {source="MONDO:equivalentTo", source="ORDO:98826/e", source="Orphanet:98826"} +xref: MedDRA:10038269 {source="Orphanet:98826", source="Orphanet:98826/e"} +xref: MESH:D000753 {source="MONDO:equivalentTo", source="Orphanet:98826", source="Orphanet:98826/e"} xref: NCIT:C2872 {source="MONDO:equivalentTo", source="EFO:0003802"} xref: Orphanet:98826 {source="MONDO:equivalentTo"} xref: SCTID:109996008 {source="MONDO:equivalentTo"} xref: SCTID:128845005 {source="EFO:0003802"} -xref: UMLS:C0002893 {source="MONDO:equivalentTo", source="ORDO:98826/e", source="NCIT:C2872", source="Orphanet:98826"} +xref: UMLS:C0002893 {source="MONDO:equivalentTo", source="NCIT:C2872", source="Orphanet:98826", source="Orphanet:98826/e"} is_a: MONDO:0018881 {source="EFO:0003802", source="MONDO:Redundant", source="NCIT:C2872/inferred", source="Orphanet:98826/inferred", source="linkedlifedata"} ! myelodysplastic syndrome is_a: MONDO:0019453 {source="Orphanet:98826"} ! refractory cytopenia with multilineage dysplasia @@ -90600,18 +90578,18 @@ synonym: "Fuchs' endothelial corneal dystrophy" EXACT [DOID:11555] synonym: "late hereditary endothelial dystrophy" EXACT [Orphanet:98974] xref: DOID:11555 {source="MONDO:equivalentTo", source="EFO:0003946"} xref: EFO:0003946 {source="DOID:11555", source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:98974", source="ORDO:98974/inclusion", source="ORDO:98974/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98974/inclusion", source="Orphanet:98974", source="Orphanet:98974/ntbt"} xref: ICD10CM:H18.51 {source="DOID:11555"} xref: MESH:D005642 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"} xref: NCIT:C84721 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"} -xref: OMIM:136800 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:610158 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:613267 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:613268 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:613269 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:613270 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:613271 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} -xref: OMIM:615523 {source="DOID:11555", source="Orphanet:98974", source="MONDO:superClassOf", source="ORDO:98974/btnt"} +xref: OMIM:136800 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:610158 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:613267 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:613268 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:613269 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:613270 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:613271 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} +xref: OMIM:615523 {source="DOID:11555", source="Orphanet:98974", source="Orphanet:98974/btnt", source="MONDO:superClassOf"} xref: OMIMPS:136800 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="DOID:11555", source="MONDO:equivalentTo"} xref: SCTID:16949007 {source="DOID:11555"} @@ -91090,20 +91068,20 @@ xref: EFO:0004209 {source="MONDO:equivalentTo"} xref: GARD:0002929 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0000047 {source="MONDO:otherHierarchy", source="EFO:0004209"} xref: ICD10CM:Q54 {source="DOID:10892"} -xref: ICD10CM:Q54.0 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"} -xref: ICD10CM:Q54.1 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"} -xref: ICD10CM:Q54.2 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"} -xref: ICD10CM:Q54.3 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"} -xref: ICD10CM:Q54.4 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"} -xref: ICD10CM:Q54.8 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="Orphanet:440"} -xref: ICD10CM:Q54.9 {source="ORDO:440/attributed", source="ORDO:440/ntbt", source="DOID:10892", source="Orphanet:440"} +xref: ICD10CM:Q54.0 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} +xref: ICD10CM:Q54.1 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} +xref: ICD10CM:Q54.2 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} +xref: ICD10CM:Q54.3 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} +xref: ICD10CM:Q54.4 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} +xref: ICD10CM:Q54.8 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} +xref: ICD10CM:Q54.9 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="DOID:10892", source="Orphanet:440"} xref: ICD9:752.61 {source="EFO:0004209"} xref: MESH:D007021 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} xref: NCIT:C40341 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} -xref: OMIM:146450 {source="ORDO:440/btnt", source="MONDO:superClassOf", source="DOID:10892", source="Orphanet:440"} -xref: OMIM:300633 {source="MONDO:superClassOf", source="ORDO:440/e", source="DOID:10892", source="Orphanet:440"} -xref: OMIM:300758 {source="ORDO:440/btnt", source="MONDO:superClassOf", source="DOID:10892", source="Orphanet:440"} -xref: OMIM:300856 {source="ORDO:440/btnt", source="MONDO:superClassOf", source="DOID:10892", source="Orphanet:440"} +xref: OMIM:146450 {source="MONDO:superClassOf", source="Orphanet:440/btnt", source="DOID:10892", source="Orphanet:440"} +xref: OMIM:300633 {source="Orphanet:440/e", source="MONDO:superClassOf", source="DOID:10892", source="Orphanet:440"} +xref: OMIM:300758 {source="MONDO:superClassOf", source="Orphanet:440/btnt", source="DOID:10892", source="Orphanet:440"} +xref: OMIM:300856 {source="MONDO:superClassOf", source="Orphanet:440/btnt", source="DOID:10892", source="Orphanet:440"} xref: OMIMPS:300633 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:440 {source="MONDO:equivalentTo", source="DOID:10892"} xref: SCTID:416010008 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} @@ -91378,17 +91356,17 @@ subset: ordo_disease {source="Orphanet:73247"} synonym: "EoE" EXACT [Orphanet:73247] xref: DOID:13922 {source="EFO:0004232", source="MONDO:equivalentTo"} xref: EFO:0004232 {source="DOID:13922", source="MONDO:equivalentTo"} -xref: ICD10CM:K20 {source="Orphanet:73247", source="ORDO:73247/ntbt"} +xref: ICD10CM:K20 {source="Orphanet:73247/ntbt", source="Orphanet:73247"} xref: ICD10CM:K20.0 {source="DOID:13922", source="MONDO:equivalentTo"} xref: ICD9:530.13 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10064212 {source="ORDO:73247/e", source="Orphanet:73247"} -xref: MESH:D057765 {source="EFO:0004232", source="DOID:13922", source="ORDO:73247/e", source="Orphanet:73247", source="MONDO:equivalentTo"} +xref: MedDRA:10064212 {source="Orphanet:73247", source="Orphanet:73247/e"} +xref: MESH:D057765 {source="EFO:0004232", source="DOID:13922", source="Orphanet:73247", source="MONDO:equivalentTo", source="Orphanet:73247/e"} xref: NCIT:C27105 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo"} -xref: OMIM:610247 {source="DOID:13922", source="ORDO:73247/e", source="Orphanet:73247", source="MONDO:superClassOf"} -xref: OMIM:613412 {source="DOID:13922", source="Orphanet:73247", source="MONDO:superClassOf", source="ORDO:73247/btnt"} +xref: OMIM:610247 {source="DOID:13922", source="Orphanet:73247", source="MONDO:superClassOf", source="Orphanet:73247/e"} +xref: OMIM:613412 {source="Orphanet:73247/btnt", source="DOID:13922", source="Orphanet:73247", source="MONDO:superClassOf"} xref: Orphanet:73247 {source="DOID:13922", source="MONDO:equivalentTo"} xref: SCTID:235599003 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo"} -xref: UMLS:C0341106 {source="DOID:13922", source="ORDO:73247/e", source="Orphanet:73247", source="MONDO:equivalentTo", source="NCIT:C27105"} +xref: UMLS:C0341106 {source="DOID:13922", source="Orphanet:73247", source="MONDO:equivalentTo", source="NCIT:C27105", source="Orphanet:73247/e"} is_a: MONDO:0001409 {source="DOID:13922", source="MESH:D057765", source="NCIT:C27105"} ! esophagitis is_a: MONDO:0018438 {source="Orphanet:73247"} ! eosinophilic gastrointestinal disease intersection_of: MONDO:0018438 ! eosinophilic gastrointestinal disease @@ -91598,8 +91576,7 @@ def: "A cognitive disorder a disturbance in which the person's mood is hypothesi synonym: "episodic mood disorder" NARROW [] xref: DOID:3324 {source="EFO:0004247", source="MONDO:equivalentTo"} xref: EFO:0004247 {source="DOID:3324", source="MONDO:equivalentTo"} -xref: ICD10CM:F30-F39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:F30-F39 {source="DOID:3324", source="MONDO:equivalentTo"} +xref: ICD10CM:F30-F39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:3324", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:F39 {source="DOID:3324"} xref: ICD9:296.99 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D019964 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"} @@ -91842,12 +91819,12 @@ xref: DOID:10159 {source="EFO:0004259", source="MONDO:equivalentTo", source="MON xref: EFO:0004259 {source="MONDO:equivalentTo"} xref: GARD:0012057 {source="MONDO:equivalentTo"} xref: ICD10CM:M87 {source="DOID:10159", source="MONDO:equivalentTo"} -xref: ICD10CM:M87.0 {source="Orphanet:399158", source="ORDO:399158/ntbt"} -xref: ICD10CM:M87.1 {source="Orphanet:399158", source="ORDO:399158/ntbt"} -xref: ICD10CM:M87.2 {source="Orphanet:399158", source="ORDO:399158/ntbt"} -xref: ICD10CM:M87.3 {source="Orphanet:399158", source="ORDO:399158/ntbt"} -xref: ICD10CM:M87.8 {source="Orphanet:399158", source="ORDO:399158/ntbt"} -xref: ICD10CM:M87.9 {source="DOID:10159", source="Orphanet:399158", source="ORDO:399158/ntbt"} +xref: ICD10CM:M87.0 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} +xref: ICD10CM:M87.1 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} +xref: ICD10CM:M87.2 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} +xref: ICD10CM:M87.3 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} +xref: ICD10CM:M87.8 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} +xref: ICD10CM:M87.9 {source="DOID:10159", source="Orphanet:399158", source="Orphanet:399158/ntbt"} xref: ICD9:732.3 {source="DOID:10159"} xref: ICD9:733.4 {source="EFO:0004259"} xref: ICD9:733.41 {source="DOID:10159"} @@ -92114,19 +92091,19 @@ synonym: "primary biliary cirrhosis" EXACT [Orphanet:186] xref: DOID:12236 {source="EFO:0004267", source="MONDO:equivalentTo"} xref: EFO:0004267 {source="MONDO:equivalentTo", source="DOID:12236"} xref: GARD:0007459 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K74.3 {source="ORDO:186/e", source="Orphanet:186", source="DOID:12236"} +xref: ICD10CM:K74.3 {source="Orphanet:186/e", source="Orphanet:186", source="DOID:12236"} xref: ICD10CM:K74.5 {source="DOID:12236"} xref: ICD9:571.6 {source="EFO:0004267", source="DOID:12236"} -xref: MedDRA:10004661 {source="ORDO:186/e", source="Orphanet:186"} -xref: MedDRA:10019137 {source="ORDO:186/e", source="Orphanet:186"} +xref: MedDRA:10004661 {source="Orphanet:186/e", source="Orphanet:186"} +xref: MedDRA:10019137 {source="Orphanet:186/e", source="Orphanet:186"} xref: MESH:D008105 {source="MONDO:equivalentTo", source="DOID:12236"} xref: NCIT:C27167 {source="EFO:0004267", source="MONDO:equivalentTo", source="DOID:12236"} xref: NCIT:C51225 {source="EFO:0004267", source="DOID:12236"} -xref: OMIM:109720 {source="ORDO:186/btnt", source="MONDO:superClassOf", source="Orphanet:186", source="DOID:12236"} -xref: OMIM:613007 {source="ORDO:186/btnt", source="MONDO:superClassOf", source="Orphanet:186", source="DOID:12236"} -xref: OMIM:613008 {source="ORDO:186/btnt", source="MONDO:superClassOf", source="Orphanet:186", source="DOID:12236"} -xref: OMIM:614220 {source="ORDO:186/btnt", source="MONDO:superClassOf", source="Orphanet:186", source="DOID:12236"} -xref: OMIM:614221 {source="ORDO:186/btnt", source="MONDO:superClassOf", source="Orphanet:186", source="DOID:12236"} +xref: OMIM:109720 {source="MONDO:superClassOf", source="Orphanet:186", source="Orphanet:186/btnt", source="DOID:12236"} +xref: OMIM:613007 {source="MONDO:superClassOf", source="Orphanet:186", source="Orphanet:186/btnt", source="DOID:12236"} +xref: OMIM:613008 {source="MONDO:superClassOf", source="Orphanet:186", source="Orphanet:186/btnt", source="DOID:12236"} +xref: OMIM:614220 {source="MONDO:superClassOf", source="Orphanet:186", source="Orphanet:186/btnt", source="DOID:12236"} +xref: OMIM:614221 {source="MONDO:superClassOf", source="Orphanet:186", source="Orphanet:186/btnt", source="DOID:12236"} xref: OMIMPS:109720 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:186 {source="MONDO:equivalentTo", source="DOID:12236"} xref: SCTID:155815006 {source="DOID:12236"} @@ -92134,9 +92111,9 @@ xref: SCTID:1761006 {source="EFO:0004267", source="DOID:12236"} xref: SCTID:197311004 {source="DOID:12236"} xref: SCTID:266540000 {source="DOID:12236"} xref: SCTID:31712002 {source="EFO:0004267", source="MONDO:equivalentTo", source="DOID:12236"} -xref: UMLS:C0008312 {source="NCIT:C27167", source="MONDO:equivalentTo", source="ORDO:186/e", source="Orphanet:186", source="DOID:12236"} +xref: UMLS:C0008312 {source="Orphanet:186/e", source="NCIT:C27167", source="MONDO:equivalentTo", source="Orphanet:186", source="DOID:12236"} xref: UMLS:C0023892 {source="MONDO:notFoundInDiseaseSubset", source="DOID:12236"} -xref: UMLS:C0859942 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:186/e", source="Orphanet:186"} +xref: UMLS:C0859942 {source="Orphanet:186/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:186"} is_a: MONDO:0004868 {source="Orphanet:186"} ! biliary tract disorder is_a: MONDO:0005155 {source="DOID:12236", source="EFO:0004267", source="MESH:D008105", source="NCIT:C27167/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cirrhosis of liver relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare @@ -92945,10 +92922,10 @@ synonym: "primary extragonadal embryonal carcinoma" NARROW [DOID:3308] xref: DOID:3308 {source="MONDO:equivalentTo", source="EFO:0004986"} xref: EFO:0004986 {source="MONDO:equivalentTo"} xref: GARD:0005140 {source="MONDO:equivalentTo"} -xref: ICD10CM:C22.7 {source="ORDO:180226/btnt", source="Orphanet:180226"} -xref: ICD10CM:C71.9 {source="ORDO:180226/btnt", source="Orphanet:180226"} +xref: ICD10CM:C22.7 {source="Orphanet:180226/btnt", source="Orphanet:180226"} +xref: ICD10CM:C71.9 {source="Orphanet:180226/btnt", source="Orphanet:180226"} xref: ICDO:9070/3 {source="NCIT:C3752"} -xref: MESH:D018236 {source="MONDO:equivalentTo", source="DOID:3308", source="Orphanet:180226", source="ORDO:180226/e"} +xref: MESH:D018236 {source="Orphanet:180226/e", source="MONDO:equivalentTo", source="DOID:3308", source="Orphanet:180226"} xref: NCIT:C3752 {source="MONDO:equivalentTo", source="EFO:0004986", source="DOID:3308"} xref: NCIT:C6341 {source="ONCOTREE:EMBCA"} xref: NCIT:C8880 {source="DOID:3308"} @@ -92956,7 +92933,7 @@ xref: ONCOTREE:EMBCA {source="MONDO:equivalentTo"} xref: Orphanet:180226 {source="MONDO:equivalentTo"} xref: SCTID:189843003 {source="DOID:3308"} xref: SCTID:28047004 {source="EFO:0004986", source="DOID:3308"} -xref: UMLS:C0206659 {source="MONDO:equivalentTo", source="NCIT:C3752", source="DOID:3308", source="Orphanet:180226", source="ORDO:180226/e"} +xref: UMLS:C0206659 {source="Orphanet:180226/e", source="MONDO:equivalentTo", source="NCIT:C3752", source="DOID:3308", source="Orphanet:180226"} xref: UMLS:C0238448 {source="ONCOTREE:EMBCA"} xref: UMLS:C0855159 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3308"} is_a: MONDO:0006290 {source="NCIT:C3752"} ! malignant germ cell tumor @@ -93288,20 +93265,20 @@ xref: DOID:10112 {source="EFO:0005225", source="MONDO:equivalentTo"} xref: EFO:0005225 {source="MONDO:equivalentTo"} xref: GARD:0007826 {source="MONDO:equivalentTo"} xref: ICD10CM:B56 {source="MONDO:subClassOf", source="DOID:10112"} -xref: ICD10CM:B56.0 {source="ORDO:3385/btnt", source="Orphanet:3385"} -xref: ICD10CM:B56.1 {source="ORDO:3385/btnt", source="Orphanet:3385"} -xref: ICD10CM:B56.9 {source="ORDO:3385/btnt", source="Orphanet:3385", source="DOID:10112"} +xref: ICD10CM:B56.0 {source="Orphanet:3385/btnt", source="Orphanet:3385"} +xref: ICD10CM:B56.1 {source="Orphanet:3385/btnt", source="Orphanet:3385"} +xref: ICD10CM:B56.9 {source="Orphanet:3385/btnt", source="Orphanet:3385", source="DOID:10112"} xref: ICD9:086.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:10112"} xref: KEGG:05143 {source="MONDO:relatedTo", source="DOID:10112"} -xref: MedDRA:10001461 {source="Orphanet:3385", source="ORDO:3385/e"} -xref: MESH:D014353 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="Orphanet:3385", source="DOID:10112", source="ORDO:3385/e"} +xref: MedDRA:10001461 {source="Orphanet:3385/e", source="Orphanet:3385"} +xref: MESH:D014353 {source="MONDO:relatedTo", source="Orphanet:3385/e", source="MONDO:equivalentTo", source="Orphanet:3385", source="DOID:10112"} xref: NCIT:C84541 {source="EFO:0005225", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:10112"} xref: Orphanet:3385 {source="MONDO:equivalentTo"} xref: SCTID:186818008 {source="DOID:10112"} xref: SCTID:187512007 {source="DOID:10112"} xref: SCTID:27031003 {source="EFO:0005225", source="MONDO:equivalentTo", source="DOID:10112"} xref: SCTID:78940002 {source="MONDO:subClassOf", source="DOID:10112"} -xref: UMLS:C0041228 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="NCIT:C84541", source="Orphanet:3385", source="DOID:10112", source="ORDO:3385/e"} +xref: UMLS:C0041228 {source="MONDO:relatedTo", source="Orphanet:3385/e", source="MONDO:equivalentTo", source="NCIT:C84541", source="Orphanet:3385", source="DOID:10112"} is_a: MONDO:0000940 {source="DOID:10112", source="EFO:0005225", source="linkedlifedata"} ! trypanosomiasis is_a: MONDO:0005135 {source="MESH:D014353/inferred", source="MONDO:Redundant", source="NCIT:C84541", source="Orphanet:3385", source="indirect"} ! parasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -93716,17 +93693,17 @@ synonym: "selective tooth agenesis" EXACT [DOID:0050591, Orphanet:99798] synonym: "tooth agenesis, selective" RELATED [OMIMPS:106600] xref: DOID:0050591 {source="EFO:0005410", source="MONDO:equivalentTo"} xref: EFO:0005410 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.0 {source="Orphanet:99798", source="ORDO:99798/inclusion", source="DOID:0050591", source="MONDO:directSiblingOf", source="ORDO:99798/ntbt"} +xref: ICD10CM:K00.0 {source="Orphanet:99798/ntbt", source="Orphanet:99798", source="DOID:0050591", source="MONDO:directSiblingOf", source="Orphanet:99798/inclusion"} xref: ICD9:520.0 {source="DOID:0050591"} xref: MESH:D000848 {source="DOID:0050591", source="MONDO:directSiblingOf"} -xref: OMIM:106600 {source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591", source="ORDO:99798/btnt"} -xref: OMIM:150400 {source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591", source="ORDO:99798/btnt"} -xref: OMIM:313500 {source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591", source="ORDO:99798/btnt"} +xref: OMIM:106600 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591"} +xref: OMIM:150400 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591"} +xref: OMIM:313500 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591"} xref: OMIM:602639 {source="MONDO:superClassOf", source="DOID:0050591"} -xref: OMIM:604625 {source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591", source="ORDO:99798/btnt"} -xref: OMIM:610926 {source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591", source="ORDO:99798/btnt"} -xref: OMIM:616724 {source="Orphanet:99798", source="MONDO:superClassOf", source="ORDO:99798/btnt"} -xref: OMIM:617073 {source="Orphanet:99798", source="MONDO:superClassOf", source="ORDO:99798/btnt"} +xref: OMIM:604625 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591"} +xref: OMIM:610926 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf", source="DOID:0050591"} +xref: OMIM:616724 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf"} +xref: OMIM:617073 {source="Orphanet:99798/btnt", source="Orphanet:99798", source="MONDO:superClassOf"} xref: OMIMPS:106600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="MONDO:equivalentTo", source="DOID:0050591"} xref: Orphanet:99798 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0050591"} @@ -93971,9 +93948,9 @@ xref: CSP:5000-0060 {source="DOID:11976"} xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"} xref: EFO:0005542 {source="MONDO:equivalentTo"} xref: GARD:0000943 {source="MONDO:equivalentTo"} -xref: ICD10CM:A05.1 {source="DOID:11976", source="ORDO:1267/e", source="Orphanet:1267"} -xref: MedDRA:10006041 {source="ORDO:1267/e", source="Orphanet:1267"} -xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="ORDO:1267/e", source="Orphanet:1267", source="MONDO:equivalentTo"} +xref: ICD10CM:A05.1 {source="DOID:11976", source="Orphanet:1267", source="Orphanet:1267/e"} +xref: MedDRA:10006041 {source="Orphanet:1267", source="Orphanet:1267/e"} +xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e"} xref: NCIT:C84599 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo"} xref: Orphanet:1267 {source="MONDO:equivalentTo"} xref: SCTID:154276003 {source="DOID:11976"} @@ -93984,7 +93961,7 @@ xref: SCTID:398530003 {source="DOID:11976", source="MONDO:superClassOf"} xref: SCTID:398565003 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo"} xref: SCTID:414531002 {source="EFO:0005542", source="DOID:11976"} xref: SCTID:49248004 {source="DOID:11976"} -xref: UMLS:C0006057 {source="DOID:11976", source="ORDO:1267/e", source="Orphanet:1267", source="MONDO:equivalentTo", source="NCIT:C84599"} +xref: UMLS:C0006057 {source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e", source="NCIT:C84599"} is_a: MONDO:0000314 {source="DOID:11976"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11976/inferred", source="EFO:0005542", source="MESH:D001906/inferred", source="MONDO:Redundant", source="NCIT:C84599", source="Orphanet:1267", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0020125 {source="Orphanet:1267"} ! acquired neuromuscular junction disease @@ -94118,15 +94095,15 @@ xref: EFO:0005547 {source="MONDO:equivalentTo"} xref: GARD:0006254 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:A90 {source="DOID:12205"} xref: ICD9:061 {source="DOID:12205", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10012310 {source="ORDO:99828/e", source="Orphanet:99828"} -xref: MESH:D003715 {source="DOID:12205", source="MONDO:equivalentTo", source="ORDO:99828/e", source="Orphanet:99828"} +xref: MedDRA:10012310 {source="Orphanet:99828/e", source="Orphanet:99828"} +xref: MESH:D003715 {source="DOID:12205", source="Orphanet:99828/e", source="MONDO:equivalentTo", source="Orphanet:99828"} xref: NCIT:C34528 {source="DOID:12205", source="MONDO:equivalentTo", source="EFO:0005547"} -xref: OMIM:614371 {source="MONDO:relatedTo", source="ORDO:99828/ntbt", source="Orphanet:99828"} +xref: OMIM:614371 {source="MONDO:relatedTo", source="Orphanet:99828/ntbt", source="Orphanet:99828"} xref: Orphanet:99828 {source="MONDO:equivalentTo"} xref: SCTID:154345006 {source="DOID:12205"} xref: SCTID:266194002 {source="DOID:12205"} xref: SCTID:38362002 {source="DOID:12205", source="MONDO:equivalentTo"} -xref: UMLS:C0011311 {source="DOID:12205", source="NCIT:C34528", source="MONDO:equivalentTo", source="ORDO:99828/e", source="Orphanet:99828"} +xref: UMLS:C0011311 {source="DOID:12205", source="NCIT:C34528", source="Orphanet:99828/e", source="MONDO:equivalentTo", source="Orphanet:99828"} xref: UMLS:C0019100 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99828"} xref: UMLS:C0376300 {source="MONDO:superClassOf", source="Orphanet:99828"} is_a: MONDO:0005108 {source="DOID:12205", source="EFO:0005547", source="MESH:D003715/inferred", source="MONDO:Redundant", source="NCIT:C34528", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease @@ -94164,23 +94141,23 @@ xref: DOID:11405 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: EFO:0005549 {source="MONDO:equivalentTo"} xref: GARD:0001875 {source="MONDO:equivalentTo"} xref: ICD10CM:A36 {source="MONDO:equivalentTo"} -xref: ICD10CM:A36.0 {source="ORDO:1679/btnt", source="Orphanet:1679"} -xref: ICD10CM:A36.1 {source="ORDO:1679/btnt", source="Orphanet:1679"} -xref: ICD10CM:A36.2 {source="ORDO:1679/btnt", source="Orphanet:1679"} -xref: ICD10CM:A36.3 {source="ORDO:1679/btnt", source="MONDO:relatedTo", source="Orphanet:1679"} -xref: ICD10CM:A36.8 {source="ORDO:1679/btnt", source="Orphanet:1679"} -xref: ICD10CM:A36.9 {source="ORDO:1679/btnt", source="Orphanet:1679"} +xref: ICD10CM:A36.0 {source="Orphanet:1679", source="Orphanet:1679/btnt"} +xref: ICD10CM:A36.1 {source="Orphanet:1679", source="Orphanet:1679/btnt"} +xref: ICD10CM:A36.2 {source="Orphanet:1679", source="Orphanet:1679/btnt"} +xref: ICD10CM:A36.3 {source="MONDO:relatedTo", source="Orphanet:1679", source="Orphanet:1679/btnt"} +xref: ICD10CM:A36.8 {source="Orphanet:1679", source="Orphanet:1679/btnt"} +xref: ICD10CM:A36.9 {source="Orphanet:1679", source="Orphanet:1679/btnt"} xref: ICD9:032 {source="EFO:0005549"} xref: ICD9:032.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10013023 {source="Orphanet:1679", source="ORDO:1679/e"} +xref: MedDRA:10013023 {source="Orphanet:1679", source="Orphanet:1679/e"} xref: MESH:D003354 {source="DOID:11405"} -xref: MESH:D004165 {source="DOID:11405", source="MONDO:equivalentTo", source="Orphanet:1679", source="EFO:0005549", source="ORDO:1679/e"} +xref: MESH:D004165 {source="DOID:11405", source="MONDO:equivalentTo", source="Orphanet:1679", source="EFO:0005549", source="Orphanet:1679/e"} xref: NCIT:C34541 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: Orphanet:1679 {source="MONDO:equivalentTo"} xref: SCTID:397428000 {source="MONDO:equivalentTo", source="EFO:0005549"} xref: SCTID:397434007 {source="DOID:11405"} xref: UMLS:C0010153 {source="DOID:11405", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0012546 {source="MONDO:equivalentTo", source="NCIT:C34541", source="Orphanet:1679", source="ORDO:1679/e"} +xref: UMLS:C0012546 {source="MONDO:equivalentTo", source="NCIT:C34541", source="Orphanet:1679", source="Orphanet:1679/e"} is_a: MONDO:0000314 {source="DOID:11405"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11405/inferred", source="EFO:0005549", source="MESH:D004165/inferred", source="MONDO:Redundant", source="NCIT:C34541", source="Orphanet:1679", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -94207,7 +94184,7 @@ xref: ONCOTREE:DNT {source="MONDO:equivalentTo"} xref: Orphanet:251946 {source="MONDO:equivalentTo"} xref: SCTID:128788005 {source="DOID:2679", source="EFO:0005551"} xref: SCTID:87211000119104 {source="MONDO:equivalentTo", source="DOID:2679"} -xref: UMLS:C1266177 {source="MONDO:equivalentTo", source="DOID:2679", source="NCIT:C9505", source="Orphanet:251946", source="ORDO:251946/e"} +xref: UMLS:C1266177 {source="Orphanet:251946/e", source="MONDO:equivalentTo", source="DOID:2679", source="NCIT:C9505", source="Orphanet:251946"} is_a: MONDO:0005560 {source="EFO:0005551/inferred", source="MONDO:Redundant", source="indirect"} ! brain disorder is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C9505/inferred"} ! central nervous system neoplasm is_a: MONDO:0016729 {source="NCIT:C9505", source="Orphanet:251946"} ! mixed neuronal-glial tumor @@ -94308,12 +94285,12 @@ synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [DOID:206] xref: DOID:206 {source="MONDO:equivalentTo", source="EFO:0005560"} xref: EFO:0005560 {source="MONDO:equivalentTo"} xref: GARD:0007035 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.6 {source="DOID:206", source="ORDO:321/e", source="ORDO:321/specific", source="Orphanet:321"} +xref: ICD10CM:Q78.6 {source="Orphanet:321/specific", source="DOID:206", source="Orphanet:321/e", source="Orphanet:321"} xref: MESH:D005097 {source="DOID:206", source="MONDO:equivalentTo"} xref: NCIT:C5183 {source="DOID:206", source="MONDO:equivalentTo", source="EFO:0005560"} -xref: OMIM:133700 {source="DOID:206", source="MONDO:superClassOf", source="ORDO:321/e", source="Orphanet:321"} -xref: OMIM:133701 {source="ORDO:321/btnt", source="DOID:206", source="MONDO:superClassOf", source="EFO:0005560", source="Orphanet:321"} -xref: OMIM:600209 {source="ORDO:321/btnt", source="DOID:206", source="MONDO:superClassOf", source="Orphanet:321"} +xref: OMIM:133700 {source="DOID:206", source="Orphanet:321/e", source="MONDO:superClassOf", source="Orphanet:321"} +xref: OMIM:133701 {source="DOID:206", source="Orphanet:321/btnt", source="MONDO:superClassOf", source="EFO:0005560", source="Orphanet:321"} +xref: OMIM:600209 {source="DOID:206", source="Orphanet:321/btnt", source="MONDO:superClassOf", source="Orphanet:321"} xref: Orphanet:321 {source="DOID:206", source="MONDO:equivalentTo", source="GARD:0007035"} xref: SCTID:16535008 {source="DOID:206"} xref: SCTID:205479007 {source="DOID:206"} @@ -94398,12 +94375,12 @@ synonym: "peritoneum malignant mesothelioma (disease)" EXACT [MONDO:patterns/loc synonym: "primary malignant peritoneal mesothelioma" EXACT [Orphanet:168811] xref: DOID:1788 {source="EFO:0005567", source="MONDO:equivalentTo"} xref: EFO:0005567 {source="MONDO:equivalentTo"} -xref: ICD10CM:C45.1 {source="Orphanet:168811", source="ORDO:168811/e"} -xref: MedDRA:10056558 {source="Orphanet:168811", source="ORDO:168811/e"} +xref: ICD10CM:C45.1 {source="Orphanet:168811", source="Orphanet:168811/e"} +xref: MedDRA:10056558 {source="Orphanet:168811", source="Orphanet:168811/e"} xref: NCIT:C8704 {source="DesignPattern", source="MONDO:equivalentTo"} xref: NCIT:C9350 {source="EFO:0005567"} xref: Orphanet:168811 {source="MONDO:equivalentTo"} -xref: UMLS:C0346109 {source="Orphanet:168811", source="MONDO:notFoundInDiseaseSubset", source="ORDO:168811/e"} +xref: UMLS:C0346109 {source="Orphanet:168811", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:168811/e"} xref: UMLS:C0854886 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C8704"} is_a: MONDO:0002087 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! peritoneum cancer is_a: MONDO:0006292 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! malignant mesothelioma @@ -94424,10 +94401,10 @@ name: nanophthalmia def: "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." [Orphanet:35612] subset: ordo_malformation_syndrome {source="Orphanet:35612"} xref: DOID:0080634 {source="MONDO:equivalentTo"} -xref: OMIM:600165 {source="Orphanet:35612", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634", source="ORDO:35612/btnt"} -xref: OMIM:609549 {source="Orphanet:35612", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634", source="ORDO:35612/btnt"} -xref: OMIM:611897 {source="Orphanet:35612", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634", source="ORDO:35612/btnt"} -xref: OMIM:615972 {source="Orphanet:35612", source="EFO:0005569", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634", source="ORDO:35612/btnt"} +xref: OMIM:600165 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634"} +xref: OMIM:609549 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634"} +xref: OMIM:611897 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634"} +xref: OMIM:615972 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="EFO:0005569", source="MONDO:superClassOf", source="DOID:10629", source="DOID:0080634"} xref: OMIMPS:600165 {source="DOID:0080634"} xref: Orphanet:35612 {source="MONDO:equivalentTo", source="DOID:10629", source="DOID:0080634"} xref: SCTID:716775009 {source="MONDO:equivalentTo"} @@ -94755,18 +94732,18 @@ synonym: "lockjaw" RELATED [GARD:0005144] xref: DOID:11338 {source="MONDO:equivalentTo", source="EFO:0005593"} xref: EFO:0005593 {source="MONDO:equivalentTo"} xref: GARD:0005144 {source="MONDO:equivalentTo"} -xref: ICD10CM:A33 {source="Orphanet:3299", source="MONDO:superClassOf", source="ORDO:3299/btnt"} -xref: ICD10CM:A34 {source="Orphanet:3299", source="ORDO:3299/btnt"} -xref: ICD10CM:A35 {source="Orphanet:3299", source="DOID:11338", source="ORDO:3299/btnt"} +xref: ICD10CM:A33 {source="Orphanet:3299", source="Orphanet:3299/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:A34 {source="Orphanet:3299", source="Orphanet:3299/btnt"} +xref: ICD10CM:A35 {source="Orphanet:3299", source="DOID:11338", source="Orphanet:3299/btnt"} xref: ICD9:037 {source="DOID:11338", source="EFO:0005593"} -xref: MedDRA:10043376 {source="Orphanet:3299", source="ORDO:3299/e"} -xref: MESH:D013742 {source="Orphanet:3299", source="ORDO:3299/e", source="DOID:11338", source="MONDO:equivalentTo", source="EFO:0005593"} +xref: MedDRA:10043376 {source="Orphanet:3299", source="Orphanet:3299/e"} +xref: MESH:D013742 {source="Orphanet:3299", source="DOID:11338", source="MONDO:equivalentTo", source="Orphanet:3299/e", source="EFO:0005593"} xref: NCIT:C85185 {source="DOID:11338", source="MONDO:equivalentTo", source="EFO:0005593"} xref: Orphanet:3299 {source="MONDO:equivalentTo"} xref: SCTID:154312006 {source="DOID:11338"} xref: SCTID:276202003 {source="DOID:11338", source="MONDO:equivalentTo"} xref: SCTID:76902006 {source="DOID:11338", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0005593"} -xref: UMLS:C0039614 {source="Orphanet:3299", source="ORDO:3299/e", source="DOID:11338", source="MONDO:equivalentTo", source="NCIT:C85185"} +xref: UMLS:C0039614 {source="Orphanet:3299", source="DOID:11338", source="MONDO:equivalentTo", source="NCIT:C85185", source="Orphanet:3299/e"} is_a: MONDO:0000314 {source="DOID:11338"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11338/inferred", source="EFO:0005593", source="MESH:D013742/inferred", source="MONDO:Redundant", source="NCIT:C85185", source="Orphanet:3299", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:3299"} ! infectious disorder of the nervous system @@ -95148,8 +95125,7 @@ synonym: "infectious disorder" EXACT [NCIT:C26726] synonym: "transmissible disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557] xref: DOID:0050117 {source="EFO:0005741", source="MONDO:equivalentTo"} xref: EFO:0005741 {source="MONDO:equivalentTo"} -xref: ICD10CM:A00-B99 {source="some infections are in other chapters", source="MONDO:superClassOf"} -xref: ICD10CM:A00-B99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:A00-B99 {source="some infections are in other chapters", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:B99-B99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M00-M02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:P35-P39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -95435,7 +95411,7 @@ synonym: "NUT Midline carcinoma" EXACT [NCIT:C45716] synonym: "NUT midline carcinoma of the head and neck" RELATED [ONCOTREE:NMCHN] xref: DOID:0060463 {source="MONDO:equivalentTo"} xref: EFO:0005783 {source="MONDO:equivalentTo"} -xref: ICD10CM:C80.9 {source="Orphanet:443167", source="ORDO:443167/ntbt"} +xref: ICD10CM:C80.9 {source="Orphanet:443167", source="Orphanet:443167/ntbt"} xref: NCIT:C45716 {source="EFO:0005783", source="DOID:0060463", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:NMCHN {source="MONDO:equivalentTo"} xref: Orphanet:443167 {source="MONDO:equivalentTo"} @@ -95649,15 +95625,15 @@ xref: DOID:8432 {source="MONDO:equivalentTo", source="EFO:0005804"} xref: EFO:0005804 {source="MONDO:equivalentTo"} xref: HP:0001901 {source="MONDO:otherHierarchy"} xref: ICD10CM:D75.1 {source="DOID:8432"} -xref: MedDRA:10036051 {source="ORDO:98427/e", source="Orphanet:98427"} -xref: MESH:D011086 {source="ORDO:98427/e", source="MONDO:equivalentTo", source="Orphanet:98427", source="EFO:0005804", source="DOID:8432"} +xref: MedDRA:10036051 {source="Orphanet:98427", source="Orphanet:98427/e"} +xref: MESH:D011086 {source="MONDO:equivalentTo", source="Orphanet:98427", source="EFO:0005804", source="Orphanet:98427/e", source="DOID:8432"} xref: NCIT:C26863 {source="MONDO:equivalentTo", source="EFO:0005804", source="exact-label-match", source="DOID:8432"} xref: Orphanet:98427 {source="MONDO:equivalentTo"} xref: SCTID:109992005 {source="DOID:8432"} xref: SCTID:127062003 {source="DOID:8432"} xref: SCTID:165401000 {source="DOID:8432"} xref: SCTID:44865000 {source="DOID:8432"} -xref: UMLS:C0032461 {source="ORDO:98427/e", source="MONDO:equivalentTo", source="NCIT:C26863", source="Orphanet:98427", source="DOID:8432"} +xref: UMLS:C0032461 {source="MONDO:equivalentTo", source="NCIT:C26863", source="Orphanet:98427", source="Orphanet:98427/e", source="DOID:8432"} is_a: MONDO:0003225 {source="DOID:8432"} ! bone marrow disorder is_a: MONDO:0005570 {source="DOID:8432/inferred", source="EFO:0005804", source="MESH:D011086", source="MONDO:Redundant", source="NCIT:C26863", source="Orphanet:98427", source="indirect"} ! hematologic disorder property_value: IAO:0000589 "polycythemia (disease)" xsd:string @@ -95880,11 +95856,11 @@ synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024] xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"} xref: DOID:5041 {source="MONDO:subClassOf", source="EFO:0005922"} xref: EFO:0005922 {source="MONDO:equivalentTo"} -xref: ICD10CM:C15.3 {source="Orphanet:99977", source="ORDO:99977/btnt"} -xref: ICD10CM:C15.4 {source="Orphanet:99977", source="ORDO:99977/btnt"} +xref: ICD10CM:C15.3 {source="Orphanet:99977/btnt", source="Orphanet:99977"} +xref: ICD10CM:C15.4 {source="Orphanet:99977/btnt", source="Orphanet:99977"} xref: MESH:C562729 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748"} xref: NCIT:C4024 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748", source="exact-label-match"} -xref: OMIM:133239 {source="MONDO:subClassOf", source="Orphanet:99977", source="EFO:0005922", source="ORDO:99977/ntbt"} +xref: OMIM:133239 {source="MONDO:subClassOf", source="Orphanet:99977/ntbt", source="Orphanet:99977", source="EFO:0005922"} xref: ONCOTREE:ESCC {source="MONDO:equivalentTo"} xref: Orphanet:99977 {source="MONDO:equivalentTo"} xref: SCTID:276804009 {source="MONDO:equivalentTo", source="DOID:3748"} @@ -96181,7 +96157,7 @@ synonym: "ovarian mucinous carcinoma" EXACT [NCIT:C5243] synonym: "ovary mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3606 {source="MONDO:equivalentTo", source="EFO:0006462"} xref: EFO:0006462 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="Orphanet:398961", source="ORDO:398961/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:398961/ntbt", source="Orphanet:398961"} xref: NCIT:C5243 {source="MONDO:equivalentTo", source="EFO:0006462", source="DOID:3606"} xref: Orphanet:398961 {source="MONDO:equivalentTo"} xref: UMLS:C1335167 {source="NCIT:C5243", source="MONDO:equivalentTo", source="DOID:3606"} @@ -96435,13 +96411,13 @@ synonym: "solitary plasmacytoma" NARROW [DOID:3721, NCIT:C6932, Orphanet:86855] xref: DOID:3721 {source="MONDO:equivalentTo", source="EFO:0006738"} xref: EFO:0006738 {source="MONDO:equivalentTo"} xref: GARD:0007404 {source="MONDO:equivalentTo"} -xref: ICD10CM:C90.2 {source="MONDO:superClassOf", source="Orphanet:86855", source="ORDO:86855/btnt"} -xref: ICD10CM:C90.3 {source="DOID:3721", source="Orphanet:86855", source="ORDO:86855/btnt"} +xref: ICD10CM:C90.2 {source="MONDO:superClassOf", source="Orphanet:86855", source="Orphanet:86855/btnt"} +xref: ICD10CM:C90.3 {source="DOID:3721", source="Orphanet:86855", source="Orphanet:86855/btnt"} xref: ICD10CM:C90.30 {source="DOID:3721"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9731/3 {source="NCIT:C9349"} -xref: MedDRA:10035484 {source="ORDO:86855/e", source="Orphanet:86855"} -xref: MESH:D010954 {source="ORDO:86855/e", source="MONDO:equivalentTo", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738"} +xref: MedDRA:10035484 {source="Orphanet:86855", source="Orphanet:86855/e"} +xref: MESH:D010954 {source="MONDO:equivalentTo", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738", source="Orphanet:86855/e"} xref: NCIT:C6932 {source="DOID:3721"} xref: NCIT:C9349 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"} xref: Orphanet:86855 {source="MONDO:equivalentTo"} @@ -96459,7 +96435,7 @@ xref: SCTID:274907000 {source="DOID:3721"} xref: SCTID:302852008 {source="DOID:3721"} xref: SCTID:308122007 {source="DOID:3721"} xref: SCTID:415112005 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"} -xref: UMLS:C0032131 {source="ORDO:86855/e", source="MONDO:equivalentTo", source="NCIT:C9349", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738"} +xref: UMLS:C0032131 {source="MONDO:equivalentTo", source="NCIT:C9349", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738", source="Orphanet:86855/e"} is_a: MONDO:0004959 {source="DOID:3721", source="EFO:0006738", source="MESH:D010954", source="NCIT:C9349", source="Orphanet:86855", source="linkedlifedata", source="linkedlifedata/inferred"} ! plasma cell neoplasm property_value: confidence "6.142857142857143" xsd:double @@ -96532,7 +96508,7 @@ synonym: "typhoidal salmonellosis" EXACT [Orphanet:99745] xref: DOID:13258 {source="EFO:0006789", source="MONDO:equivalentTo"} xref: EFO:0006789 {source="MONDO:equivalentTo"} xref: GARD:0009564 {source="MONDO:equivalentTo"} -xref: ICD10CM:A01.0 {source="ORDO:99745/e", source="Orphanet:99745", source="DOID:13258"} +xref: ICD10CM:A01.0 {source="Orphanet:99745", source="Orphanet:99745/e", source="DOID:13258"} xref: ICD10CM:A01.00 {source="DOID:13258"} xref: ICD9:002.0 {source="EFO:0006789", source="MONDO:equivalentTo", source="i2s", source="DOID:13258"} xref: MESH:D014435 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"} @@ -96572,16 +96548,16 @@ xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: EFO:0006790 {source="MONDO:equivalentTo"} xref: GARD:0010266 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:I68.0 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E85.4+ {source="Orphanet:85458", source="ORDO:85458/attributed", source="ORDO:85458/ntbt"} -xref: ICD10EXP:I68.0* {source="Orphanet:85458", source="ORDO:85458/attributed", source="ORDO:85458/ntbt"} +xref: ICD10EXP:E85.4+ {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D016657 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: MESH:D028243 {source="DOID:9246"} xref: NCIT:C84625 {source="MONDO:equivalentTo", source="EFO:0006790"} -xref: OMIM:105150 {source="MONDO:superClassOf", source="Orphanet:85458", source="ORDO:85458/btnt", source="DOID:9246"} +xref: OMIM:105150 {source="MONDO:superClassOf", source="Orphanet:85458", source="Orphanet:85458/btnt", source="DOID:9246"} xref: OMIM:117300 {source="MONDO:superClassOf", source="DOID:9246"} xref: OMIM:176500 {source="MONDO:superClassOf", source="DOID:9246"} -xref: OMIM:605714 {source="MONDO:superClassOf", source="Orphanet:85458", source="ORDO:85458/btnt", source="DOID:9246"} +xref: OMIM:605714 {source="MONDO:superClassOf", source="Orphanet:85458", source="Orphanet:85458/btnt", source="DOID:9246"} xref: Orphanet:85458 {source="MONDO:equivalentTo", source="DOID:9246"} xref: SCTID:230724001 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: SCTID:56453003 {source="MONDO:superClassOf", source="DOID:9246"} @@ -96776,15 +96752,15 @@ synonym: "keratitis, Acanthamoeba" EXACT [NCIT:C50450] xref: DOID:11896 {source="EFO:0007126", source="MONDO:obsolete"} xref: EFO:0007126 {source="MONDO:equivalentTo"} xref: GARD:0009285 {source="MONDO:equivalentTo"} -xref: ICD10EXP:B60.1+ {source="ORDO:67043/ntbt", source="Orphanet:67043"} -xref: ICD10EXP:H19.2* {source="ORDO:67043/ntbt", source="Orphanet:67043"} +xref: ICD10EXP:B60.1+ {source="Orphanet:67043/ntbt", source="Orphanet:67043"} +xref: ICD10EXP:H19.2* {source="Orphanet:67043/ntbt", source="Orphanet:67043"} xref: ICD9:370.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069408 {source="ORDO:67043/e", source="Orphanet:67043"} -xref: MESH:D015823 {source="EFO:0007126", source="MONDO:equivalentTo", source="ORDO:67043/e", source="Orphanet:67043"} +xref: MedDRA:10069408 {source="Orphanet:67043/e", source="Orphanet:67043"} +xref: MESH:D015823 {source="EFO:0007126", source="Orphanet:67043/e", source="MONDO:equivalentTo", source="Orphanet:67043"} xref: NCIT:C50450 {source="MONDO:equivalentTo"} xref: Orphanet:67043 {source="MONDO:equivalentTo"} xref: SCTID:231896005 {source="MONDO:equivalentTo"} -xref: UMLS:C0000880 {source="MONDO:equivalentTo", source="ORDO:67043/e", source="NCIT:C50450", source="Orphanet:67043"} +xref: UMLS:C0000880 {source="Orphanet:67043/e", source="MONDO:equivalentTo", source="NCIT:C50450", source="Orphanet:67043"} xref: UMLS:C0033129 {source="GARD:0009285", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002428 {source="MESH:D015823/inferred", source="NCIT:C50450"} ! protozoa infectious disease is_a: MONDO:0005135 {source="EFO:0007126", source="MESH:D015823/inferred", source="MONDO:Redundant", source="NCIT:C50450/inferred", source="Orphanet:67043", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease @@ -96834,11 +96810,11 @@ xref: DOID:8478 {source="EFO:0007128", source="MONDO:equivalentTo"} xref: EFO:0007128 {source="MONDO:equivalentTo"} xref: GARD:0005728 {source="MONDO:equivalentTo"} xref: ICD10CM:A42 {source="DOID:8478"} -xref: ICD10CM:A42.0 {source="ORDO:457095/btnt", source="Orphanet:457095"} -xref: ICD10CM:A42.1 {source="ORDO:457095/btnt", source="Orphanet:457095"} -xref: ICD10CM:A42.2 {source="ORDO:457095/btnt", source="MONDO:superClassOf", source="Orphanet:457095"} -xref: ICD10CM:A42.7 {source="ORDO:457095/btnt", source="Orphanet:457095"} -xref: ICD10CM:A42.8 {source="ORDO:457095/btnt", source="Orphanet:457095"} +xref: ICD10CM:A42.0 {source="Orphanet:457095", source="Orphanet:457095/btnt"} +xref: ICD10CM:A42.1 {source="Orphanet:457095", source="Orphanet:457095/btnt"} +xref: ICD10CM:A42.2 {source="MONDO:superClassOf", source="Orphanet:457095", source="Orphanet:457095/btnt"} +xref: ICD10CM:A42.7 {source="Orphanet:457095", source="Orphanet:457095/btnt"} +xref: ICD10CM:A42.8 {source="Orphanet:457095", source="Orphanet:457095/btnt"} xref: ICD10CM:A42.9 {source="DOID:8478"} xref: ICD9:039 {source="DOID:8478"} xref: ICD9:039.9 {source="DOID:8478", source="MONDO:directSiblingOf"} @@ -97117,22 +97093,22 @@ synonym: "hookworm infection" EXACT [Orphanet:78] xref: DOID:12841 {source="MONDO:equivalentTo", source="EFO:0007145"} xref: EFO:0007145 {source="MONDO:equivalentTo"} xref: GARD:0009742 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:B76.0 {source="Orphanet:78", source="ORDO:78/btnt", source="DOID:12841"} -xref: ICD10CM:B76.1 {source="Orphanet:78", source="ORDO:78/btnt", source="MONDO:directSiblingOf"} -xref: ICD10CM:B76.8 {source="Orphanet:78", source="ORDO:78/btnt"} -xref: ICD10CM:B76.9 {source="Orphanet:78", source="ORDO:78/btnt"} +xref: ICD10CM:B76.0 {source="Orphanet:78", source="Orphanet:78/btnt", source="DOID:12841"} +xref: ICD10CM:B76.1 {source="Orphanet:78", source="Orphanet:78/btnt", source="MONDO:directSiblingOf"} +xref: ICD10CM:B76.8 {source="Orphanet:78", source="Orphanet:78/btnt"} +xref: ICD10CM:B76.9 {source="Orphanet:78", source="Orphanet:78/btnt"} xref: ICD9:126.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10002255 {source="Orphanet:78", source="ORDO:78/e"} -xref: MedDRA:10020376 {source="Orphanet:78", source="ORDO:78/e"} -xref: MESH:D000724 {source="Orphanet:78", source="ORDO:78/e", source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841", source="EFO:0007145"} -xref: MESH:D006725 {source="Orphanet:78", source="ORDO:78/e"} +xref: MedDRA:10002255 {source="Orphanet:78", source="Orphanet:78/e"} +xref: MedDRA:10020376 {source="Orphanet:78", source="Orphanet:78/e"} +xref: MESH:D000724 {source="Orphanet:78", source="MONDO:equivalentTo", source="Orphanet:78/e", source="MONDO:directSiblingOf", source="DOID:12841", source="EFO:0007145"} +xref: MESH:D006725 {source="Orphanet:78", source="Orphanet:78/e"} xref: NCIT:C35805 {source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841"} xref: Orphanet:78 {source="MONDO:equivalentTo"} xref: SCTID:63479002 {source="MONDO:equivalentTo", source="DOID:12841"} xref: SCTID:85807000 {source="DOID:12841"} -xref: UMLS:C0002831 {source="NCIT:C35805", source="Orphanet:78", source="ORDO:78/e", source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841"} -xref: UMLS:C0019911 {source="Orphanet:78", source="ORDO:78/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0002831 {source="NCIT:C35805", source="Orphanet:78", source="MONDO:equivalentTo", source="Orphanet:78/e", source="MONDO:directSiblingOf", source="DOID:12841"} +xref: UMLS:C0019911 {source="Orphanet:78", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:78/e"} is_a: MONDO:0004664 {source="DOID:12841", source="MESH:D000724/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:12841/inferred", source="EFO:0007145", source="MESH:D000724/inferred", source="NCIT:C35805", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -97383,24 +97359,24 @@ xref: DOID:13564 {source="MONDO:equivalentTo", source="EFO:0007157"} xref: EFO:0007157 {source="MONDO:equivalentTo"} xref: GARD:0005856 {source="MONDO:equivalentTo"} xref: ICD10CM:B44 {source="MONDO:equivalentTo", source="DOID:13564"} -xref: ICD10CM:B44.0 {source="ORDO:1163/btnt", source="Orphanet:1163"} -xref: ICD10CM:B44.1 {source="ORDO:1163/btnt", source="Orphanet:1163"} -xref: ICD10CM:B44.2 {source="ORDO:1163/btnt", source="Orphanet:1163"} -xref: ICD10CM:B44.7 {source="ORDO:1163/btnt", source="Orphanet:1163"} -xref: ICD10CM:B44.8 {source="ORDO:1163/btnt", source="Orphanet:1163"} -xref: ICD10CM:B44.9 {source="ORDO:1163/btnt", source="DOID:13564", source="Orphanet:1163"} +xref: ICD10CM:B44.0 {source="Orphanet:1163/btnt", source="Orphanet:1163"} +xref: ICD10CM:B44.1 {source="Orphanet:1163/btnt", source="Orphanet:1163"} +xref: ICD10CM:B44.2 {source="Orphanet:1163/btnt", source="Orphanet:1163"} +xref: ICD10CM:B44.7 {source="Orphanet:1163/btnt", source="Orphanet:1163"} +xref: ICD10CM:B44.8 {source="Orphanet:1163/btnt", source="Orphanet:1163"} +xref: ICD10CM:B44.9 {source="Orphanet:1163/btnt", source="DOID:13564", source="Orphanet:1163"} xref: ICD9:117.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:13564"} -xref: MedDRA:10003488 {source="Orphanet:1163", source="ORDO:1163/e"} -xref: MESH:D001228 {source="MONDO:equivalentTo", source="DOID:13564", source="EFO:0007157", source="Orphanet:1163", source="ORDO:1163/e"} +xref: MedDRA:10003488 {source="Orphanet:1163/e", source="Orphanet:1163"} +xref: MESH:D001228 {source="Orphanet:1163/e", source="MONDO:equivalentTo", source="DOID:13564", source="EFO:0007157", source="Orphanet:1163"} xref: NCIT:C2886 {source="MONDO:equivalentTo", source="DOID:13564"} -xref: OMIM:614079 {source="MONDO:superClassOf", source="ORDO:1163/btnt", source="Orphanet:1163"} +xref: OMIM:614079 {source="MONDO:superClassOf", source="Orphanet:1163/btnt", source="Orphanet:1163"} xref: Orphanet:1163 {source="MONDO:equivalentTo"} xref: SCTID:154408001 {source="DOID:13564"} xref: SCTID:187087004 {source="DOID:13564"} xref: SCTID:187492008 {source="DOID:13564"} xref: SCTID:266218008 {source="DOID:13564"} xref: SCTID:65553006 {source="MONDO:equivalentTo", source="DOID:13564"} -xref: UMLS:C0004030 {source="MONDO:equivalentTo", source="DOID:13564", source="NCIT:C2886", source="Orphanet:1163", source="ORDO:1163/e"} +xref: UMLS:C0004030 {source="Orphanet:1163/e", source="MONDO:equivalentTo", source="DOID:13564", source="NCIT:C2886", source="Orphanet:1163"} is_a: MONDO:0002041 {source="DOID:13564/inferred", source="ICD10CM:B44", source="MESH:D001228/inferred", source="MONDO:Redundant", source="NCIT:C2886", source="Orphanet:1163", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease is_a: MONDO:0002312 {source="DOID:13564", source="MONDO:Redundant"} ! opportunistic mycosis intersection_of: MONDO:0005550 ! infectious disease @@ -97468,16 +97444,16 @@ synonym: "piroplasmosis" EXACT [DOID:9643] xref: DOID:9643 {source="MONDO:equivalentTo", source="EFO:0007162"} xref: EFO:0007162 {source="MONDO:equivalentTo"} xref: GARD:0005878 {source="MONDO:equivalentTo"} -xref: ICD10CM:B60.0 {source="ORDO:108/e", source="Orphanet:108", source="MONDO:equivalentTo", source="DOID:9643"} +xref: ICD10CM:B60.0 {source="Orphanet:108", source="MONDO:equivalentTo", source="Orphanet:108/e", source="DOID:9643"} xref: ICD9:088.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:9643"} -xref: MedDRA:10003965 {source="ORDO:108/e", source="Orphanet:108"} -xref: MESH:D001404 {source="ORDO:108/e", source="Orphanet:108", source="MONDO:equivalentTo", source="EFO:0007162", source="DOID:9643"} +xref: MedDRA:10003965 {source="Orphanet:108", source="Orphanet:108/e"} +xref: MESH:D001404 {source="Orphanet:108", source="MONDO:equivalentTo", source="EFO:0007162", source="Orphanet:108/e", source="DOID:9643"} xref: NCIT:C84581 {source="MONDO:equivalentTo", source="DOID:9643"} xref: Orphanet:108 {source="MONDO:equivalentTo"} xref: SCTID:187241002 {source="DOID:9643"} xref: SCTID:21061004 {source="MONDO:equivalentTo", source="DOID:9643"} xref: SCTID:276204002 {source="DOID:9643"} -xref: UMLS:C0004576 {source="ORDO:108/e", source="Orphanet:108", source="MONDO:equivalentTo", source="NCIT:C84581", source="DOID:9643"} +xref: UMLS:C0004576 {source="Orphanet:108", source="MONDO:equivalentTo", source="NCIT:C84581", source="Orphanet:108/e", source="DOID:9643"} is_a: MONDO:0002428 {source="DOID:9643", source="MESH:D001404/inferred"} ! protozoa infectious disease is_a: MONDO:0005135 {source="DOID:9643/inferred", source="EFO:0007162", source="MESH:D001404/inferred", source="MONDO:Redundant", source="NCIT:C84581", source="Orphanet:108", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -97505,17 +97481,17 @@ synonym: "large-intestinal infection with Balantidium coli" RELATED [GARD:000080 xref: DOID:12386 {source="MONDO:equivalentTo", source="EFO:0007163"} xref: EFO:0007163 {source="MONDO:equivalentTo"} xref: GARD:0000809 {source="MONDO:equivalentTo"} -xref: ICD10CM:A07.0 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386"} +xref: ICD10CM:A07.0 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="Orphanet:1223/e"} xref: ICD9:007.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:12386"} -xref: MedDRA:10004080 {source="ORDO:1223/e", source="Orphanet:1223"} -xref: MESH:C531629 {source="ORDO:1223/e", source="Orphanet:1223"} -xref: MESH:D001447 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="EFO:0007163"} +xref: MedDRA:10004080 {source="Orphanet:1223", source="Orphanet:1223/e"} +xref: MESH:C531629 {source="Orphanet:1223", source="Orphanet:1223/e"} +xref: MESH:D001447 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="EFO:0007163", source="Orphanet:1223/e"} xref: NCIT:C84583 {source="MONDO:equivalentTo", source="DOID:12386"} xref: Orphanet:1223 {source="MONDO:equivalentTo"} xref: SCTID:105638003 {source="DOID:12386"} xref: SCTID:57725006 {source="MONDO:equivalentTo", source="DOID:12386"} -xref: UMLS:C0004692 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="NCIT:C84583"} -xref: UMLS:C0276786 {source="ORDO:1223/e", source="Orphanet:1223", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0004692 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="NCIT:C84583", source="Orphanet:1223/e"} +xref: UMLS:C0276786 {source="Orphanet:1223", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1223/e"} is_a: MONDO:0002428 {source="DOID:12386", source="MESH:D001447/inferred"} ! protozoa infectious disease is_a: MONDO:0005135 {source="DOID:12386/inferred", source="EFO:0007163", source="MESH:D001447/inferred", source="MONDO:Redundant", source="NCIT:C84583", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0024270 {source="MESH:D001447"} ! parasitic intestinal disorder @@ -97656,17 +97632,17 @@ synonym: "pigeon-breeder's lung" EXACT [NCIT:C34425] synonym: "poultry worker's lung" RELATED [DOID:13891] xref: DOID:13891 {source="MONDO:equivalentTo", source="EFO:0007170"} xref: EFO:0007170 {source="MONDO:equivalentTo"} -xref: ICD10CM:J67.2 {source="ORDO:99908/ntbt", source="MONDO:equivalentTo", source="DOID:13891", source="Orphanet:99908"} +xref: ICD10CM:J67.2 {source="MONDO:equivalentTo", source="DOID:13891", source="Orphanet:99908/ntbt", source="Orphanet:99908"} xref: ICD9:495.2 {source="MONDO:equivalentTo", source="DOID:13891", source="i2s"} -xref: MedDRA:10004941 {source="ORDO:99908/e", source="Orphanet:99908"} -xref: MESH:D001716 {source="ORDO:99908", source="MONDO:equivalentTo", source="EFO:0007170", source="DOID:13891", source="ORDO:99908/e"} +xref: MedDRA:10004941 {source="Orphanet:99908/e", source="Orphanet:99908"} +xref: MESH:D001716 {source="Orphanet:99908/e", source="MONDO:equivalentTo", source="EFO:0007170", source="DOID:13891", source="Orphanet:99908"} xref: NCIT:C34425 {source="MONDO:equivalentTo", source="DOID:13891"} -xref: OMIM:145300 {source="ORDO:99908/btnt", source="MONDO:superClassOf", source="Orphanet:99908"} +xref: OMIM:145300 {source="MONDO:superClassOf", source="Orphanet:99908/btnt", source="Orphanet:99908"} xref: Orphanet:99908 {source="MONDO:equivalentTo"} xref: SCTID:195987000 {source="DOID:13891"} xref: SCTID:69339004 {source="MONDO:equivalentTo", source="DOID:13891"} xref: UMLS:C0005592 {source="MONDO:equivalentTo", source="DOID:13891", source="NCIT:C34425"} -xref: UMLS:C0031903 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99908/e", source="Orphanet:99908"} +xref: UMLS:C0031903 {source="Orphanet:99908/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99908"} is_a: MONDO:0000771 {source="OWLReasoner:2017", source="indirect"} ! allergic respiratory disease is_a: MONDO:0004553 {source="DOID:13891", source="MESH:D001716", source="NCIT:C34425"} ! extrinsic allergic alveolitis is_a: MONDO:0020537 {source="Orphanet:99908"} ! occupational allergic alveolitis @@ -97808,7 +97784,7 @@ xref: DOID:4305 {source="MONDO:equivalentTo", source="EFO:0007176"} xref: EFO:0007176 {source="MONDO:equivalentTo"} xref: GARD:0013046 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011847 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D48.0 {source="ORDO:363976/ntbt", source="Orphanet:363976"} +xref: ICD10CM:D48.0 {source="Orphanet:363976/ntbt", source="Orphanet:363976"} xref: MESH:D018212 {source="DOID:4305", source="MONDO:equivalentTo", source="EFO:0007176"} xref: NCIT:C121932 {source="DOID:4305", source="MONDO:equivalentTo"} xref: ONCOTREE:GCTB {source="MONDO:equivalentTo"} @@ -97888,7 +97864,7 @@ synonym: "recrudescent typhus" EXACT [DOID:11254, Orphanet:99990] synonym: "sporadic typhus" RELATED [DOID:11254] xref: DOID:11254 {source="EFO:0007182", source="MONDO:equivalentTo"} xref: EFO:0007182 {source="MONDO:equivalentTo"} -xref: ICD10CM:A75.1 {source="ORDO:99990/e", source="DOID:11254", source="Orphanet:99990"} +xref: ICD10CM:A75.1 {source="Orphanet:99990/e", source="DOID:11254", source="Orphanet:99990"} xref: ICD9:081.1 {source="DOID:11254"} xref: MESH:D014438 {source="EFO:0007182", source="DOID:11254"} xref: Orphanet:99990 {source="MONDO:equivalentTo"} @@ -97938,16 +97914,16 @@ xref: DOID:11077 {source="MONDO:equivalentTo", source="EFO:0007185"} xref: EFO:0007185 {source="MONDO:equivalentTo"} xref: GARD:0005966 {source="MONDO:equivalentTo"} xref: ICD10CM:A23 {source="MONDO:equivalentTo", source="DOID:11077"} -xref: ICD10CM:A23.0 {source="ORDO:1304/btnt", source="Orphanet:1304"} -xref: ICD10CM:A23.1 {source="ORDO:1304/btnt", source="Orphanet:1304"} -xref: ICD10CM:A23.2 {source="ORDO:1304/btnt", source="Orphanet:1304"} -xref: ICD10CM:A23.3 {source="ORDO:1304/btnt", source="Orphanet:1304"} -xref: ICD10CM:A23.8 {source="ORDO:1304/btnt", source="Orphanet:1304"} -xref: ICD10CM:A23.9 {source="ORDO:1304/btnt", source="Orphanet:1304", source="DOID:11077"} +xref: ICD10CM:A23.0 {source="Orphanet:1304", source="Orphanet:1304/btnt"} +xref: ICD10CM:A23.1 {source="Orphanet:1304", source="Orphanet:1304/btnt"} +xref: ICD10CM:A23.2 {source="Orphanet:1304", source="Orphanet:1304/btnt"} +xref: ICD10CM:A23.3 {source="Orphanet:1304", source="Orphanet:1304/btnt"} +xref: ICD10CM:A23.8 {source="Orphanet:1304", source="Orphanet:1304/btnt"} +xref: ICD10CM:A23.9 {source="Orphanet:1304", source="DOID:11077", source="Orphanet:1304/btnt"} xref: ICD9:023 {source="DOID:11077"} xref: ICD9:023.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:11077"} -xref: MedDRA:10006500 {source="ORDO:1304/e", source="Orphanet:1304"} -xref: MESH:D002006 {source="MONDO:equivalentTo", source="ORDO:1304/e", source="Orphanet:1304", source="DOID:11077", source="EFO:0007185"} +xref: MedDRA:10006500 {source="Orphanet:1304", source="Orphanet:1304/e"} +xref: MESH:D002006 {source="MONDO:equivalentTo", source="Orphanet:1304", source="DOID:11077", source="EFO:0007185", source="Orphanet:1304/e"} xref: NCIT:C84602 {source="MONDO:equivalentTo", source="DOID:11077"} xref: Orphanet:1304 {source="MONDO:equivalentTo"} xref: SCTID:111804008 {source="DOID:11077"} @@ -97955,7 +97931,7 @@ xref: SCTID:154296006 {source="DOID:11077"} xref: SCTID:186310006 {source="DOID:11077"} xref: SCTID:187304000 {source="DOID:11077"} xref: SCTID:75702008 {source="MONDO:equivalentTo", source="DOID:11077"} -xref: UMLS:C0006309 {source="NCIT:C84602", source="MONDO:equivalentTo", source="ORDO:1304/e", source="Orphanet:1304", source="DOID:11077"} +xref: UMLS:C0006309 {source="NCIT:C84602", source="MONDO:equivalentTo", source="Orphanet:1304", source="DOID:11077", source="Orphanet:1304/e"} is_a: MONDO:0000314 {source="DOID:11077"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11077/inferred", source="EFO:0007185", source="MESH:D002006/inferred", source="MONDO:Redundant", source="NCIT:C84602", source="Orphanet:1304", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease relationship: disease_has_infectious_agent NCBITaxon:234 {source="Wikidata"} ! Brucella @@ -98117,17 +98093,17 @@ synonym: "Foshay-Mollaret Cat scratch fever" EXACT [DOID:11258] xref: DOID:11258 {source="MONDO:equivalentTo", source="EFO:0007195"} xref: EFO:0007195 {source="MONDO:equivalentTo"} xref: GARD:0000027 {source="MONDO:equivalentTo"} -xref: ICD10CM:A28.1 {source="DOID:11258", source="MONDO:equivalentTo", source="ORDO:50839/e", source="Orphanet:50839"} +xref: ICD10CM:A28.1 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839"} xref: ICD9:078.3 {source="DOID:11258", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10007729 {source="ORDO:50839/e", source="Orphanet:50839"} -xref: MESH:D002372 {source="DOID:11258", source="MONDO:equivalentTo", source="EFO:0007195", source="ORDO:50839/e", source="Orphanet:50839"} +xref: MedDRA:10007729 {source="Orphanet:50839/e", source="Orphanet:50839"} +xref: MESH:D002372 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="EFO:0007195", source="Orphanet:50839"} xref: NCIT:C84620 {source="DOID:11258", source="MONDO:equivalentTo"} xref: Orphanet:50839 {source="MONDO:equivalentTo"} xref: SCTID:123319006 {source="DOID:11258"} xref: SCTID:154370006 {source="DOID:11258"} xref: SCTID:266202002 {source="DOID:11258"} xref: SCTID:79974007 {source="DOID:11258", source="MONDO:equivalentTo"} -xref: UMLS:C0007361 {source="DOID:11258", source="MONDO:equivalentTo", source="ORDO:50839/e", source="Orphanet:50839", source="NCIT:C84620"} +xref: UMLS:C0007361 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839", source="NCIT:C84620"} xref: UMLS:C0238909 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:50839"} xref: UMLS:CN205187 {source="MONDO:equivalentTo"} is_a: MONDO:0002052 {source="MESH:D002372"} ! lymphadenitis @@ -98423,19 +98399,19 @@ xref: DOID:13450 {source="MONDO:equivalentTo", source="EFO:0007211"} xref: EFO:0007211 {source="MONDO:equivalentTo"} xref: GARD:0009525 {source="MONDO:equivalentTo"} xref: ICD10CM:B38 {source="MONDO:equivalentTo", source="DOID:13450"} -xref: ICD10CM:B38.0 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.1 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.2 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.3 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.4 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.7 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.8 {source="ORDO:228123/btnt", source="Orphanet:228123"} -xref: ICD10CM:B38.9 {source="ORDO:228123/btnt", source="DOID:13450", source="Orphanet:228123"} +xref: ICD10CM:B38.0 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.1 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.2 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.3 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.4 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.7 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.8 {source="Orphanet:228123/btnt", source="Orphanet:228123"} +xref: ICD10CM:B38.9 {source="Orphanet:228123/btnt", source="DOID:13450", source="Orphanet:228123"} xref: ICD9:114 {source="DOID:13450"} xref: ICD9:114.1 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:114.9 {source="DOID:13450"} -xref: MedDRA:10009825 {source="ORDO:228123/e", source="Orphanet:228123"} -xref: MESH:D003047 {source="MONDO:equivalentTo", source="DOID:13450", source="ORDO:228123/e", source="Orphanet:228123", source="EFO:0007211"} +xref: MedDRA:10009825 {source="Orphanet:228123/e", source="Orphanet:228123"} +xref: MESH:D003047 {source="Orphanet:228123/e", source="MONDO:equivalentTo", source="DOID:13450", source="Orphanet:228123", source="EFO:0007211"} xref: NCIT:C84642 {source="MONDO:equivalentTo", source="DOID:13450"} xref: Orphanet:228123 {source="MONDO:equivalentTo"} xref: SCTID:154408001 {source="DOID:13450"} @@ -98446,7 +98422,7 @@ xref: SCTID:23247008 {source="MONDO:equivalentTo"} xref: SCTID:266218008 {source="DOID:13450"} xref: SCTID:442543009 {source="DOID:13450"} xref: SCTID:60826002 {source="DOID:13450"} -xref: UMLS:C0009186 {source="MONDO:equivalentTo", source="DOID:13450", source="ORDO:228123/e", source="Orphanet:228123", source="NCIT:C84642"} +xref: UMLS:C0009186 {source="Orphanet:228123/e", source="MONDO:equivalentTo", source="DOID:13450", source="Orphanet:228123", source="NCIT:C84642"} xref: UMLS:C0153257 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228123"} xref: UMLS:C0700644 {source="MONDO:equivalentTo"} xref: UMLS:C0851907 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228123"} @@ -98492,14 +98468,14 @@ synonym: "Mountain tick fever" EXACT [Orphanet:83595] synonym: "Tick fever, American mountain" EXACT [DOID:4885] xref: DOID:4885 {source="EFO:0007213", source="MONDO:equivalentTo"} xref: EFO:0007213 {source="MONDO:equivalentTo"} -xref: ICD10CM:A93.2 {source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="ORDO:83595/ntbt"} +xref: ICD10CM:A93.2 {source="Orphanet:83595/ntbt", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo"} xref: ICD9:066.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10010022 {source="Orphanet:83595", source="ORDO:83595/e"} -xref: MESH:D003121 {source="EFO:0007213", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="ORDO:83595/e"} +xref: MedDRA:10010022 {source="Orphanet:83595", source="Orphanet:83595/e"} +xref: MESH:D003121 {source="EFO:0007213", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="Orphanet:83595/e"} xref: Orphanet:83595 {source="MONDO:equivalentTo"} xref: SCTID:186607005 {source="DOID:4885"} xref: SCTID:6452009 {source="DOID:4885", source="MONDO:equivalentTo"} -xref: UMLS:C0009400 {source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="ORDO:83595/e"} +xref: UMLS:C0009400 {source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="Orphanet:83595/e"} is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83595"} ! viral encephalitis is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83595", source="indirect"} ! infectious encephalitis intersection_of: MONDO:0005550 ! infectious disease @@ -98549,11 +98525,11 @@ synonym: "composite lymphoma" EXACT [NCIT:C38661] xref: DOID:5820 {source="EFO:0007215", source="MONDO:equivalentTo"} xref: EFO:0007215 {source="MONDO:equivalentTo"} xref: ICDO:9596/3 {source="NCIT:C38661"} -xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"} +xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} xref: NCIT:C38661 {source="DOID:5820", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:168966 {source="MONDO:equivalentTo"} -xref: UMLS:C0545080 {source="NCIT:C38661", source="DOID:5820", source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"} -xref: UMLS:C1266191 {source="MONDO:equivalentTo", source="ORDO:168966/e", source="Orphanet:168966"} +xref: UMLS:C0545080 {source="NCIT:C38661", source="DOID:5820", source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} +xref: UMLS:C1266191 {source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"} is_a: MONDO:0005062 {source="DOID:5820/inferred", source="EFO:0007215", source="MESH:D058617", source="NCIT:C38661", source="Orphanet:168966"} ! lymphoma [Term] @@ -98572,18 +98548,18 @@ xref: EFO:0007216 {source="MONDO:equivalentTo"} xref: GARD:0001481 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:K44 {source="DOID:3827"} xref: ICD10CM:K44.9 {source="DOID:3827"} -xref: ICD10CM:Q79.0 {source="Orphanet:2140", source="ORDO:2140/e"} -xref: MedDRA:10010439 {source="Orphanet:2140", source="ORDO:2140/e"} -xref: MESH:C538080 {source="Orphanet:2140", source="ORDO:2140/e"} +xref: ICD10CM:Q79.0 {source="Orphanet:2140/e", source="Orphanet:2140"} +xref: MedDRA:10010439 {source="Orphanet:2140/e", source="Orphanet:2140"} +xref: MESH:C538080 {source="Orphanet:2140/e", source="Orphanet:2140"} xref: MESH:D006548 {source="DOID:3827"} xref: MESH:D006551 {source="EFO:0007216", source="MONDO:relatedTo"} xref: MESH:D065630 {xref="https://github.com/monarch-initiative/mondo/issues/2212", xref="MONDO:equivaentTo"} xref: NCIT:C34687 {source="DOID:3827"} xref: NCIT:C98893 {source="MONDO:equivalentTo"} -xref: OMIM:142340 {source="MONDO:superClassOf", source="DOID:3827", source="Orphanet:2140", source="ORDO:2140/e"} -xref: OMIM:222400 {source="MONDO:superClassOf", source="DOID:3827", source="Orphanet:2140", source="ORDO:2140/btnt"} -xref: OMIM:306950 {source="MONDO:superClassOf", source="Orphanet:2140", source="ORDO:2140/btnt"} -xref: OMIM:610187 {source="MONDO:superClassOf", source="DOID:3827", source="Orphanet:2140", source="ORDO:2140/btnt"} +xref: OMIM:142340 {source="Orphanet:2140/e", source="MONDO:superClassOf", source="DOID:3827", source="Orphanet:2140"} +xref: OMIM:222400 {source="MONDO:superClassOf", source="Orphanet:2140/btnt", source="DOID:3827", source="Orphanet:2140"} +xref: OMIM:306950 {source="MONDO:superClassOf", source="Orphanet:2140/btnt", source="Orphanet:2140"} +xref: OMIM:610187 {source="MONDO:superClassOf", source="Orphanet:2140/btnt", source="DOID:3827", source="Orphanet:2140"} xref: Orphanet:2140 {source="MONDO:equivalentTo", source="DOID:3827"} xref: SCTID:155748004 {source="DOID:3827"} xref: SCTID:155750007 {source="DOID:3827"} @@ -98594,7 +98570,7 @@ xref: SCTID:266444006 {source="DOID:3827"} xref: SCTID:266511003 {source="DOID:3827"} xref: SCTID:39839004 {source="DOID:3827"} xref: UMLS:C0019284 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3827"} -xref: UMLS:C0235833 {source="MONDO:equivalentTo", source="Orphanet:2140", source="ORDO:2140/e"} +xref: UMLS:C0235833 {source="Orphanet:2140/e", source="MONDO:equivalentTo", source="Orphanet:2140"} is_a: MONDO:0005087 {source="Orphanet:2140"} ! respiratory system disorder is_a: MONDO:0005728 {source="DOID:3827", source="EFO:0007216", source="EFO:0007216/inferred"} ! diaphragm disorder is_a: MONDO:0015215 {source="Orphanet:2140"} ! non-syndromic diaphragmatic or abdominal wall malformation @@ -98680,17 +98656,17 @@ synonym: "toxoplasmosis, congenital" EXACT [NCIT:C50503] xref: DOID:13336 {source="MONDO:equivalentTo", source="EFO:0007220"} xref: EFO:0007220 {source="MONDO:equivalentTo"} xref: GARD:0010326 {source="MONDO:equivalentTo"} -xref: ICD10CM:P37.1 {source="ORDO:858/e", source="MONDO:equivalentTo", source="Orphanet:858", source="DOID:13336"} +xref: ICD10CM:P37.1 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10010652 {source="ORDO:858/e", source="Orphanet:858"} -xref: MESH:D014125 {source="ORDO:858/e", source="MONDO:equivalentTo", source="Orphanet:858", source="EFO:0007220", source="DOID:13336"} +xref: MedDRA:10010652 {source="Orphanet:858", source="Orphanet:858/e"} +xref: MESH:D014125 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="EFO:0007220", source="DOID:13336"} xref: NCIT:C50503 {source="MONDO:equivalentTo", source="DOID:13336"} xref: Orphanet:858 {source="MONDO:equivalentTo"} xref: SCTID:157118007 {source="DOID:13336"} xref: SCTID:206335001 {source="DOID:13336"} xref: SCTID:268875000 {source="DOID:13336"} xref: SCTID:73893000 {source="MONDO:equivalentTo", source="DOID:13336"} -xref: UMLS:C0040560 {source="NCIT:C50503", source="ORDO:858/e", source="MONDO:equivalentTo", source="Orphanet:858", source="DOID:13336"} +xref: UMLS:C0040560 {source="NCIT:C50503", source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"} is_a: MONDO:0005135 {source="MONDO:Redundant", source="Orphanet:858"} ! parasitic infectious disease is_a: MONDO:0005989 {source="DOID:13336", source="MESH:D014125", source="NCIT:C50503", source="linkedlifedata"} ! toxoplasmosis is_a: MONDO:0016511 {source="Orphanet:858"} ! infectious embryofetopathy @@ -98845,16 +98821,16 @@ xref: DOID:12053 {source="EFO:0007229", source="MONDO:equivalentTo"} xref: EFO:0007229 {source="MONDO:equivalentTo"} xref: GARD:0006218 {source="MONDO:equivalentTo"} xref: ICD10CM:B45 {source="MONDO:equivalentTo", source="DOID:12053"} -xref: ICD10CM:B45.0 {source="ORDO:1546/btnt", source="Orphanet:1546"} -xref: ICD10CM:B45.1 {source="ORDO:1546/btnt", source="Orphanet:1546"} -xref: ICD10CM:B45.2 {source="ORDO:1546/btnt", source="Orphanet:1546"} -xref: ICD10CM:B45.3 {source="ORDO:1546/btnt", source="Orphanet:1546"} -xref: ICD10CM:B45.7 {source="ORDO:1546/btnt", source="Orphanet:1546"} -xref: ICD10CM:B45.8 {source="ORDO:1546/btnt", source="Orphanet:1546"} -xref: ICD10CM:B45.9 {source="ORDO:1546/btnt", source="DOID:12053", source="Orphanet:1546"} +xref: ICD10CM:B45.0 {source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: ICD10CM:B45.1 {source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: ICD10CM:B45.2 {source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: ICD10CM:B45.3 {source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: ICD10CM:B45.7 {source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: ICD10CM:B45.8 {source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: ICD10CM:B45.9 {source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/btnt"} xref: ICD9:117.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:12053"} -xref: MedDRA:10011490 {source="ORDO:1546/e", source="Orphanet:1546"} -xref: MESH:D003453 {source="EFO:0007229", source="MONDO:equivalentTo", source="ORDO:1546/e", source="DOID:12053", source="Orphanet:1546"} +xref: MedDRA:10011490 {source="Orphanet:1546", source="Orphanet:1546/e"} +xref: MESH:D003453 {source="EFO:0007229", source="MONDO:equivalentTo", source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/e"} xref: NCIT:C2967 {source="MONDO:equivalentTo", source="DOID:12053"} xref: Orphanet:1546 {source="MONDO:equivalentTo"} xref: SCTID:187090005 {source="DOID:12053"} @@ -98892,7 +98868,7 @@ synonym: "intestinal infection caused by Cyclospora cayetanensis" EXACT [] xref: DOID:12750 {source="MONDO:equivalentTo", source="EFO:0007230"} xref: EFO:0007230 {source="MONDO:equivalentTo"} xref: GARD:0009528 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:A07.3 {source="ORDO:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"} +xref: ICD10CM:A07.3 {source="Orphanet:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"} xref: ICD10CM:A07.4 {source="MONDO:equivalentTo", source="DOID:12750"} xref: ICD9:007.5 {source="DOID:12750"} xref: MESH:D021866 {source="MONDO:equivalentTo", source="EFO:0007230", source="DOID:12750"} @@ -99064,9 +99040,9 @@ synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"} xref: EFO:0007242 {source="MONDO:equivalentTo"} xref: GARD:0010821 {source="MONDO:equivalentTo"} -xref: ICD10CM:A83.2 {source="DOID:10841", source="Orphanet:83594", source="MONDO:equivalentTo", source="ORDO:83594/ntbt"} +xref: ICD10CM:A83.2 {source="DOID:10841", source="Orphanet:83594", source="Orphanet:83594/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.2 {source="DOID:10841"} -xref: MedDRA:10014587 {source="Orphanet:83594", source="ORDO:83594/e"} +xref: MedDRA:10014587 {source="Orphanet:83594", source="Orphanet:83594/e"} xref: MESH:D020242 {source="DOID:10841", source="MONDO:equivalentTo", source="EFO:0007242"} xref: Orphanet:83594 {source="MONDO:equivalentTo"} xref: SCTID:40177004 {source="DOID:10841"} @@ -99092,15 +99068,15 @@ synonym: "EHF" EXACT ABBREVIATION [Orphanet:319218] xref: DOID:4325 {source="MONDO:equivalentTo", source="EFO:0007243"} xref: EFO:0007243 {source="MONDO:equivalentTo"} xref: GARD:0002035 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:A98.4 {source="Orphanet:319218", source="DOID:4325", source="ORDO:319218/e"} -xref: MedDRA:10014071 {source="Orphanet:319218", source="ORDO:319218/e"} +xref: ICD10CM:A98.4 {source="Orphanet:319218", source="DOID:4325", source="Orphanet:319218/e"} +xref: MedDRA:10014071 {source="Orphanet:319218", source="Orphanet:319218/e"} xref: MESH:D019142 {source="DOID:4325", source="MONDO:equivalentTo", source="EFO:0007243"} xref: NCIT:C36171 {source="DOID:4325", source="MONDO:equivalentTo"} xref: Orphanet:319218 {source="MONDO:equivalentTo"} xref: SCTID:123323003 {source="DOID:4325"} xref: SCTID:186746000 {source="DOID:4325"} xref: SCTID:37109004 {source="DOID:4325", source="MONDO:equivalentTo"} -xref: UMLS:C0282687 {source="Orphanet:319218", source="DOID:4325", source="MONDO:equivalentTo", source="ORDO:319218/e", source="NCIT:C36171"} +xref: UMLS:C0282687 {source="Orphanet:319218", source="DOID:4325", source="MONDO:equivalentTo", source="Orphanet:319218/e", source="NCIT:C36171"} is_a: MONDO:0018087 {source="MESH:D019142", source="NCIT:C36171", source="Orphanet:319218", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0100332 NCBITaxon:186536 ! disease has primary infectious agent Ebolavirus @@ -99258,18 +99234,18 @@ synonym: "yolk SAC tumor, malignant" EXACT [NCIT:C3011] synonym: "yolk Sac tumour site unspecified" EXACT [NCIT:C3011] xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"} xref: EFO:0007252 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="Orphanet:876", source="ORDO:876/btnt"} -xref: ICD10CM:C62.9 {source="Orphanet:876", source="ORDO:876/btnt"} +xref: ICD10CM:C56 {source="Orphanet:876", source="Orphanet:876/btnt"} +xref: ICD10CM:C62.9 {source="Orphanet:876", source="Orphanet:876/btnt"} xref: ICDO:9071/3 {source="NCIT:C3011"} -xref: MedDRA:10048251 {source="ORDO:876/e", source="Orphanet:876"} +xref: MedDRA:10048251 {source="Orphanet:876", source="Orphanet:876/e"} xref: MESH:D018240 {source="DOID:1911", source="EFO:0007252"} xref: NCIT:C3011 {source="MONDO:equivalentTo", source="DOID:1911"} -xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:876", source="ORDO:876/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:876", source="Orphanet:876/ntbt", source="MONDO:directSiblingOf"} xref: ONCOTREE:BYST {source="MONDO:equivalentTo"} xref: Orphanet:876 {source="MONDO:equivalentTo"} xref: SCTID:404081005 {source="MONDO:equivalentTo", source="DOID:1911"} xref: SCTID:74409009 {source="DOID:1911"} -xref: UMLS:C0014145 {source="ORDO:876/e", source="Orphanet:876", source="NCIT:C3011", source="MONDO:equivalentTo", source="DOID:1911"} +xref: UMLS:C0014145 {source="Orphanet:876", source="NCIT:C3011", source="MONDO:equivalentTo", source="Orphanet:876/e", source="DOID:1911"} is_a: MONDO:0005040 {source="DOID:1911", source="EFO:0007252", source="MONDO:Redundant", source="NCIT:C3011/inferred"} ! germ cell tumor is_a: MONDO:0006290 {source="NCIT:C3011"} ! malignant germ cell tumor is_a: MONDO:0020539 {source="Orphanet:876"} ! extragonadal non-dysgerminomatous germ cell tumor @@ -99582,11 +99558,11 @@ synonym: "Wuchereriasis" RELATED [GARD:0003321] xref: DOID:12211 {source="MONDO:equivalentTo", source="EFO:0007272"} xref: EFO:0007272 {source="MONDO:equivalentTo"} xref: GARD:0003321 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:B74.0 {source="Orphanet:2035", source="ORDO:2035/btnt", source="DOID:12211"} -xref: ICD10CM:B74.1 {source="Orphanet:2035", source="ORDO:2035/btnt"} -xref: ICD10CM:B74.2 {source="Orphanet:2035", source="ORDO:2035/btnt"} +xref: ICD10CM:B74.0 {source="Orphanet:2035/btnt", source="Orphanet:2035", source="DOID:12211"} +xref: ICD10CM:B74.1 {source="Orphanet:2035/btnt", source="Orphanet:2035"} +xref: ICD10CM:B74.2 {source="Orphanet:2035/btnt", source="Orphanet:2035"} xref: ICD9:374.83 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10016675 {source="ORDO:2035/e", source="Orphanet:2035"} +xref: MedDRA:10016675 {source="Orphanet:2035", source="Orphanet:2035/e"} xref: MESH:D004605 {source="MONDO:equivalentTo", source="EFO:0007272", source="DOID:12211"} xref: NCIT:C128360 {source="MONDO:equivalentTo"} xref: Orphanet:2035 {source="MONDO:equivalentTo"} @@ -99647,15 +99623,15 @@ synonym: "follicular dendritic cell tumour" EXACT [DOID:6262] synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"} xref: EFO:0007276 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.4 {source="ORDO:86902/ntbt", source="Orphanet:86902", source="DOID:6262"} +xref: ICD10CM:C96.4 {source="Orphanet:86902", source="DOID:6262", source="Orphanet:86902/ntbt"} xref: ICDO:9758/1 {source="NCIT:C9281"} xref: ICDO:9758/3 {source="NCIT:C9281"} -xref: MESH:D054740 {source="MONDO:equivalentTo", source="ORDO:86902/e", source="Orphanet:86902", source="DOID:6262", source="EFO:0007276"} +xref: MESH:D054740 {source="MONDO:equivalentTo", source="Orphanet:86902", source="DOID:6262", source="EFO:0007276", source="Orphanet:86902/e"} xref: NCIT:C9281 {source="MONDO:equivalentTo", source="DOID:6262"} xref: ONCOTREE:FDCS {source="MONDO:equivalentTo"} xref: Orphanet:86902 {source="MONDO:equivalentTo"} xref: SCTID:128816008 {source="DOID:6262"} -xref: UMLS:C1260325 {source="MONDO:equivalentTo", source="ORDO:86902/e", source="Orphanet:86902", source="DOID:6262", source="NCIT:C9281"} +xref: UMLS:C1260325 {source="MONDO:equivalentTo", source="Orphanet:86902", source="DOID:6262", source="NCIT:C9281", source="Orphanet:86902/e"} is_a: MONDO:0004380 {source="DOID:6262", source="MONDO:Redundant"} ! dendritic cell sarcoma is_a: MONDO:0006247 {source="DOID:6262/inferred", source="MONDO:Redundant", source="NCIT:C9281", source="Orphanet:86902/inferred"} ! histiocytic and dendritic cell neoplasm is_a: MONDO:0017345 {source="Orphanet:86902"} ! Epstein-Barr virus-associated mesenchymal tumor @@ -99869,13 +99845,13 @@ synonym: "GS" RELATED ABBREVIATION [GARD:0008660] xref: DOID:4969 {source="MONDO:equivalentTo", source="EFO:0007285"} xref: EFO:0007285 {source="MONDO:equivalentTo"} xref: GARD:0008660 {source="MONDO:equivalentTo"} -xref: ICD10CM:F81.2 {source="ORDO:221117/ntbt", source="Orphanet:221117"} +xref: ICD10CM:F81.2 {source="Orphanet:221117", source="Orphanet:221117/ntbt"} xref: ICD9:784.69 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048608 {source="ORDO:221117/e", source="Orphanet:221117", source="DOID:4969"} -xref: MESH:D005862 {source="MONDO:equivalentTo", source="ORDO:221117/e", source="Orphanet:221117", source="DOID:4969", source="EFO:0007285"} +xref: MedDRA:10048608 {source="Orphanet:221117", source="DOID:4969", source="Orphanet:221117/e"} +xref: MESH:D005862 {source="MONDO:equivalentTo", source="Orphanet:221117", source="DOID:4969", source="EFO:0007285", source="Orphanet:221117/e"} xref: Orphanet:221117 {source="MONDO:equivalentTo", source="DOID:4969"} xref: SCTID:36785009 {source="MONDO:equivalentTo", source="DOID:4969"} -xref: UMLS:C0017494 {source="ORDO:221117/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221117", source="DOID:4969"} +xref: UMLS:C0017494 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221117", source="DOID:4969", source="Orphanet:221117/e"} is_a: MONDO:0005071 {source="Orphanet:221117"} ! nervous system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome xsd:anyURI {source="GARD:0008660"} @@ -100175,7 +100151,7 @@ synonym: "Hepatitis delta virus hepatitis" EXACT [] synonym: "hepatitis type D" EXACT [DOID:2047, EFO:0007304, MONDORULE:1] xref: DOID:2047 {source="EFO:0007304", source="MONDO:equivalentTo"} xref: EFO:0007304 {source="MONDO:equivalentTo"} -xref: ICD10CM:B17.0 {source="Orphanet:402823", source="ORDO:402823/e"} +xref: ICD10CM:B17.0 {source="Orphanet:402823", source="Orphanet:402823/e"} xref: ICD9:070.52 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D003699 {source="EFO:0007304", source="DOID:2047", source="MONDO:equivalentTo"} xref: Orphanet:402823 {source="MONDO:equivalentTo"} @@ -100420,15 +100396,15 @@ synonym: "Hymenolepsis infection" RELATED [GARD:0002787] xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"} xref: EFO:0007317 {source="MONDO:equivalentTo"} xref: GARD:0002787 {source="MONDO:equivalentTo"} -xref: ICD10CM:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="DOID:10074", source="ORDO:401/e"} +xref: ICD10CM:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: ICD9:123.6 {source="MONDO:equivalentTo", source="DOID:10074", source="i2s"} -xref: MedDRA:10020546 {source="Orphanet:401", source="ORDO:401/e"} -xref: MESH:D006925 {source="Orphanet:401", source="EFO:0007317", source="MONDO:equivalentTo", source="DOID:10074", source="ORDO:401/e"} +xref: MedDRA:10020546 {source="Orphanet:401", source="Orphanet:401/e"} +xref: MESH:D006925 {source="Orphanet:401", source="EFO:0007317", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: NCIT:C84768 {source="MONDO:equivalentTo", source="DOID:10074"} xref: Orphanet:401 {source="MONDO:equivalentTo"} xref: SCTID:187153007 {source="DOID:10074"} xref: SCTID:44917000 {source="MONDO:equivalentTo", source="DOID:10074"} -xref: UMLS:C0020413 {source="Orphanet:401", source="NCIT:C84768", source="MONDO:equivalentTo", source="DOID:10074", source="ORDO:401/e"} +xref: UMLS:C0020413 {source="Orphanet:401", source="NCIT:C84768", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} xref: UMLS:C0277045 {source="MONDO:equivalentTo"} is_a: MONDO:0004664 {source="DOID:10074", source="ICD10CM:B71.0/inferred", source="MESH:D006925/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:10074/inferred", source="EFO:0007317", source="MESH:D006925/inferred", source="MONDO:Redundant", source="NCIT:C84768", source="Orphanet:401", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease @@ -100855,12 +100831,12 @@ synonym: "temporal lobectomy behavior syndrome" RELATED [MESH:D020232] xref: DOID:2510 {source="EFO:0007335", source="MONDO:equivalentTo"} xref: EFO:0007335 {source="MONDO:equivalentTo"} xref: GARD:0006840 {source="MONDO:equivalentTo"} -xref: MedDRA:10066431 {source="ORDO:157823/e", source="Orphanet:157823"} -xref: MESH:D020232 {source="EFO:0007335", source="DOID:2510", source="MONDO:equivalentTo", source="ORDO:157823/e", source="Orphanet:157823"} +xref: MedDRA:10066431 {source="Orphanet:157823", source="Orphanet:157823/e"} +xref: MESH:D020232 {source="EFO:0007335", source="DOID:2510", source="MONDO:equivalentTo", source="Orphanet:157823", source="Orphanet:157823/e"} xref: NCIT:C84802 {source="DOID:2510", source="MONDO:equivalentTo"} xref: Orphanet:157823 {source="MONDO:equivalentTo"} xref: SCTID:10651001 {source="DOID:2510", source="MONDO:equivalentTo"} -xref: UMLS:C0270707 {source="DOID:2510", source="NCIT:C84802", source="ORDO:157823/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:157823"} +xref: UMLS:C0270707 {source="DOID:2510", source="NCIT:C84802", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:157823", source="Orphanet:157823/e"} is_a: MONDO:0001162 {source="DOID:2510"} ! impulse control disorder is_a: MONDO:0002254 {source="NCIT:C84802"} ! syndromic disease is_a: MONDO:0020067 {source="Orphanet:157823"} ! infectious encephalitis @@ -100908,14 +100884,14 @@ synonym: "Lassa hemorrhagic fever" EXACT [Orphanet:99824] synonym: "LF" EXACT ABBREVIATION [Orphanet:99824] xref: DOID:9537 {source="EFO:0007338", source="MONDO:equivalentTo"} xref: EFO:0007338 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.2 {source="DOID:9537", source="ORDO:99824/e", source="MONDO:equivalentTo", source="Orphanet:99824"} +xref: ICD10CM:A96.2 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10023927 {source="ORDO:99824/e", source="Orphanet:99824"} -xref: MESH:D007835 {source="DOID:9537", source="ORDO:99824/e", source="EFO:0007338", source="MONDO:equivalentTo", source="Orphanet:99824"} +xref: MedDRA:10023927 {source="Orphanet:99824", source="Orphanet:99824/e"} +xref: MESH:D007835 {source="DOID:9537", source="EFO:0007338", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} xref: NCIT:C128418 {source="MONDO:equivalentTo"} xref: Orphanet:99824 {source="MONDO:equivalentTo"} xref: SCTID:19065005 {source="DOID:9537", source="MONDO:equivalentTo"} -xref: UMLS:C0023092 {source="DOID:9537", source="ORDO:99824/e", source="MONDO:equivalentTo", source="Orphanet:99824", source="NCIT:C128418"} +xref: UMLS:C0023092 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="NCIT:C128418", source="Orphanet:99824/e"} is_a: MONDO:0018087 {source="MESH:D007835", source="NCIT:C128418", source="Orphanet:99824", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: MONDO:0100332 NCBITaxon:11620 ! disease has primary infectious agent Lassa mammarenavirus @@ -100976,16 +100952,16 @@ synonym: "Legionella infection" EXACT [DOID:10458] synonym: "Legionnaires disease" EXACT [Orphanet:549] xref: DOID:10458 {source="MONDO:equivalentTo", source="EFO:0007342"} xref: EFO:0007342 {source="MONDO:equivalentTo"} -xref: ICD10CM:A48.1 {source="ORDO:549/e", source="Orphanet:549"} -xref: MedDRA:10035718 {source="ORDO:549/e", source="Orphanet:549"} -xref: MedDRA:10061266 {source="ORDO:549/e", source="Orphanet:549"} -xref: MESH:D007876 {source="DOID:10458", source="ORDO:549/e", source="MONDO:equivalentTo", source="Orphanet:549", source="EFO:0007342"} -xref: MESH:D007877 {source="ORDO:549/e", source="MONDO:superClassOf", source="Orphanet:549"} +xref: ICD10CM:A48.1 {source="Orphanet:549", source="Orphanet:549/e"} +xref: MedDRA:10035718 {source="Orphanet:549", source="Orphanet:549/e"} +xref: MedDRA:10061266 {source="Orphanet:549", source="Orphanet:549/e"} +xref: MESH:D007876 {source="DOID:10458", source="MONDO:equivalentTo", source="Orphanet:549", source="EFO:0007342", source="Orphanet:549/e"} +xref: MESH:D007877 {source="MONDO:superClassOf", source="Orphanet:549", source="Orphanet:549/e"} xref: NCIT:C128334 {source="MONDO:equivalentTo"} xref: Orphanet:549 {source="MONDO:equivalentTo"} xref: SCTID:26726000 {source="DOID:10458", source="MONDO:equivalentTo"} -xref: UMLS:C0023240 {source="DOID:10458", source="ORDO:549/e", source="NCIT:C128334", source="MONDO:equivalentTo", source="Orphanet:549"} -xref: UMLS:C0023241 {source="ORDO:549/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:549"} +xref: UMLS:C0023240 {source="DOID:10458", source="NCIT:C128334", source="MONDO:equivalentTo", source="Orphanet:549", source="Orphanet:549/e"} +xref: UMLS:C0023241 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:549", source="Orphanet:549/e"} xref: UMLS:CN205282 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:10458"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:10458/inferred", source="EFO:0007342", source="MESH:D007876/inferred", source="MONDO:Redundant", source="NCIT:C128334", source="Orphanet:549", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease @@ -101057,15 +101033,15 @@ xref: DOID:2297 {source="MONDO:equivalentTo", source="EFO:0007344"} xref: EFO:0007344 {source="MONDO:equivalentTo"} xref: GARD:0007881 {source="MONDO:equivalentTo"} xref: ICD10CM:A27 {source="DOID:2297", source="MONDO:equivalentTo"} -xref: ICD10CM:A27.0 {source="DOID:2297", source="ORDO:509/btnt", source="Orphanet:509"} -xref: ICD10CM:A27.8 {source="ORDO:509/btnt", source="Orphanet:509"} -xref: ICD10CM:A27.9 {source="DOID:2297", source="ORDO:509/btnt", source="Orphanet:509"} +xref: ICD10CM:A27.0 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"} +xref: ICD10CM:A27.8 {source="Orphanet:509/btnt", source="Orphanet:509"} +xref: ICD10CM:A27.9 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"} xref: ICD9:100 {source="DOID:2297"} xref: ICD9:100.0 {source="DOID:2297"} xref: ICD9:100.89 {source="linkedlifedata"} xref: ICD9:100.9 {source="DOID:2297", source="linkedlifedata"} -xref: MedDRA:10024238 {source="ORDO:509/e", source="Orphanet:509"} -xref: MESH:D007922 {source="DOID:2297", source="MONDO:equivalentTo", source="ORDO:509/e", source="Orphanet:509", source="EFO:0007344"} +xref: MedDRA:10024238 {source="Orphanet:509/e", source="Orphanet:509"} +xref: MESH:D007922 {source="DOID:2297", source="Orphanet:509/e", source="MONDO:equivalentTo", source="Orphanet:509", source="EFO:0007344"} xref: MESH:D014895 {source="DOID:2297", source="MONDO:superClassOf"} xref: NCIT:C84825 {source="DOID:2297", source="MONDO:equivalentTo"} xref: Orphanet:509 {source="MONDO:equivalentTo"} @@ -101081,7 +101057,7 @@ xref: SCTID:398222003 {source="DOID:2297"} xref: SCTID:50574007 {source="DOID:2297"} xref: SCTID:69092001 {source="DOID:2297"} xref: SCTID:77377001 {source="DOID:2297", source="MONDO:equivalentTo"} -xref: UMLS:C0023364 {source="DOID:2297", source="NCIT:C84825", source="MONDO:equivalentTo", source="ORDO:509/e", source="Orphanet:509"} +xref: UMLS:C0023364 {source="DOID:2297", source="Orphanet:509/e", source="NCIT:C84825", source="MONDO:equivalentTo", source="Orphanet:509"} xref: UMLS:C0043102 {source="DOID:2297", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000314 {source="DOID:2297"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:2297/inferred", source="EFO:0007344", source="MESH:D007922/inferred", source="MONDO:Redundant", source="NCIT:C84825", source="Orphanet:509", source="indirect", source="linkedlifedata/inferred"} ! bacterial infectious disease @@ -101146,14 +101122,14 @@ xref: DOID:11573 {source="EFO:0007347", source="MONDO:equivalentTo"} xref: EFO:0007347 {source="MONDO:equivalentTo"} xref: GARD:0006915 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:A32 {source="MONDO:equivalentTo", source="DOID:11573"} -xref: ICD10CM:A32.0 {source="Orphanet:533", source="ORDO:533/btnt"} -xref: ICD10CM:A32.1 {source="Orphanet:533", source="ORDO:533/btnt"} -xref: ICD10CM:A32.7 {source="Orphanet:533", source="ORDO:533/btnt"} -xref: ICD10CM:A32.8 {source="Orphanet:533", source="ORDO:533/btnt"} -xref: ICD10CM:A32.9 {source="Orphanet:533", source="ORDO:533/btnt", source="DOID:11573"} +xref: ICD10CM:A32.0 {source="Orphanet:533", source="Orphanet:533/btnt"} +xref: ICD10CM:A32.1 {source="Orphanet:533", source="Orphanet:533/btnt"} +xref: ICD10CM:A32.7 {source="Orphanet:533", source="Orphanet:533/btnt"} +xref: ICD10CM:A32.8 {source="Orphanet:533", source="Orphanet:533/btnt"} +xref: ICD10CM:A32.9 {source="Orphanet:533", source="Orphanet:533/btnt", source="DOID:11573"} xref: ICD9:027.0 {source="DOID:11573"} -xref: MedDRA:10024641 {source="Orphanet:533", source="ORDO:533/e"} -xref: MESH:D008088 {source="Orphanet:533", source="EFO:0007347", source="MONDO:equivalentTo", source="DOID:11573", source="ORDO:533/e"} +xref: MedDRA:10024641 {source="Orphanet:533", source="Orphanet:533/e"} +xref: MESH:D008088 {source="Orphanet:533", source="EFO:0007347", source="MONDO:equivalentTo", source="Orphanet:533/e", source="DOID:11573"} xref: NCIT:C82994 {source="MONDO:equivalentTo", source="DOID:11573"} xref: Orphanet:533 {source="MONDO:equivalentTo"} xref: SCTID:186315001 {source="DOID:11573"} @@ -101161,7 +101137,7 @@ xref: SCTID:186320001 {source="DOID:11573"} xref: SCTID:187320005 {source="DOID:11573"} xref: SCTID:406591006 {source="DOID:11573"} xref: SCTID:4241002 {source="DOID:11573"} -xref: UMLS:C0023860 {source="Orphanet:533", source="NCIT:C82994", source="MONDO:equivalentTo", source="DOID:11573", source="ORDO:533/e"} +xref: UMLS:C0023860 {source="Orphanet:533", source="NCIT:C82994", source="MONDO:equivalentTo", source="Orphanet:533/e", source="DOID:11573"} is_a: MONDO:0000314 {source="DOID:11573"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11573/inferred", source="EFO:0007347", source="MESH:D008088/inferred", source="MONDO:Redundant", source="NCIT:C82994", source="Orphanet:533", source="indirect"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -101339,24 +101315,24 @@ synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [DOID:3883] synonym: "Lynch syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:3883 {source="MONDO:equivalentTo", source="EFO:0007354"} xref: EFO:0007354 {source="MONDO:equivalentTo"} -xref: ICD10CM:D48.9 {source="ORDO:144/attributed", source="ORDO:144/ntbt", source="Orphanet:144"} -xref: MedDRA:10051981 {source="ORDO:144/e", source="Orphanet:144"} -xref: MESH:D003123 {source="DOID:3883", source="ORDO:144/e", source="Orphanet:144", source="EFO:0007354"} +xref: ICD10CM:D48.9 {source="Orphanet:144/attributed", source="Orphanet:144/ntbt", source="Orphanet:144"} +xref: MedDRA:10051981 {source="Orphanet:144/e", source="Orphanet:144"} +xref: MESH:D003123 {source="DOID:3883", source="Orphanet:144/e", source="Orphanet:144", source="EFO:0007354"} xref: NCIT:C120083 {source="MONDO:subClassOf", source="DOID:3883"} xref: NCIT:C8494 {source="DOID:3883", source="MONDO:equivalentTo"} -xref: OMIM:120435 {source="DOID:3883", source="ORDO:144/e", source="Orphanet:144", source="MONDO:directSiblingOf"} -xref: OMIM:609310 {source="ORDO:144/btnt", source="DOID:3883", source="Orphanet:144", source="MONDO:directSiblingOf"} -xref: OMIM:613244 {source="ORDO:144/btnt", source="DOID:3883", source="Orphanet:144", source="MONDO:directSiblingOf"} -xref: OMIM:614331 {source="ORDO:144/btnt", source="DOID:3883", source="Orphanet:144", source="MONDO:directSiblingOf"} -xref: OMIM:614337 {source="ORDO:144/btnt", source="DOID:3883", source="Orphanet:144", source="MONDO:directSiblingOf"} -xref: OMIM:614350 {source="ORDO:144/btnt", source="DOID:3883", source="Orphanet:144", source="MONDO:directSiblingOf"} -xref: OMIM:614385 {source="ORDO:144/btnt", source="DOID:3883", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:120435 {source="DOID:3883", source="Orphanet:144/e", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:609310 {source="DOID:3883", source="Orphanet:144/btnt", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:613244 {source="DOID:3883", source="Orphanet:144/btnt", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:614331 {source="DOID:3883", source="Orphanet:144/btnt", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:614337 {source="DOID:3883", source="Orphanet:144/btnt", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:614350 {source="DOID:3883", source="Orphanet:144/btnt", source="Orphanet:144", source="MONDO:directSiblingOf"} +xref: OMIM:614385 {source="DOID:3883", source="Orphanet:144/btnt", source="Orphanet:144", source="MONDO:directSiblingOf"} xref: Orphanet:144 {source="DOID:3883", source="MONDO:equivalentTo"} xref: SCTID:315058005 {source="DOID:3883"} xref: SCTID:716318002 {source="MONDO:equivalentTo"} xref: UMLS:C0009405 {source="DOID:3883", source="MONDO:relatedTo"} xref: UMLS:C1112155 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:144"} -xref: UMLS:C1333990 {source="DOID:3883", source="MONDO:notFoundInDiseaseSubset", source="ORDO:144/e", source="Orphanet:144"} +xref: UMLS:C1333990 {source="DOID:3883", source="Orphanet:144/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:144"} is_a: MONDO:0000426 {source="DOID:3883", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0018630 {source="NCIT:C8494", source="Orphanet:144"} ! hereditary nonpolyposis colon cancer relationship: has_modifier HP:0000006 {source="Orphanet:144"} ! Autosomal dominant inheritance @@ -101453,7 +101429,7 @@ synonym: "Mansonellosis" EXACT [Orphanet:2459] xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"} xref: EFO:0007357 {source="MONDO:equivalentTo"} xref: GARD:0008216 {source="MONDO:equivalentTo"} -xref: ICD10CM:B74.4 {source="MONDO:equivalentTo", source="ORDO:2459/e", source="Orphanet:2459", source="DOID:1081"} +xref: ICD10CM:B74.4 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="Orphanet:2459/e"} xref: MESH:D008368 {source="EFO:0007357", source="MONDO:equivalentTo", source="DOID:1081"} xref: NCIT:C84882 {source="MONDO:equivalentTo", source="DOID:1081"} xref: Orphanet:2459 {source="MONDO:equivalentTo"} @@ -101609,17 +101585,17 @@ synonym: "Microsporidiasis" RELATED [GARD:0003655] xref: DOID:4271 {source="MONDO:equivalentTo", source="EFO:0007366"} xref: EFO:0007366 {source="MONDO:equivalentTo"} xref: GARD:0003655 {source="MONDO:equivalentTo"} -xref: ICD10CM:B60.8 {source="Orphanet:2552", source="DOID:4271", source="ORDO:2552/ntbt"} +xref: ICD10CM:B60.8 {source="Orphanet:2552/ntbt", source="Orphanet:2552", source="DOID:4271"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053982 {source="ORDO:2552/e", source="Orphanet:2552"} -xref: MESH:D016881 {source="ORDO:2552/e", source="Orphanet:2552", source="MONDO:equivalentTo", source="DOID:4271", source="EFO:0007366"} +xref: MedDRA:10053982 {source="Orphanet:2552", source="Orphanet:2552/e"} +xref: MESH:D016881 {source="Orphanet:2552", source="MONDO:equivalentTo", source="Orphanet:2552/e", source="DOID:4271", source="EFO:0007366"} xref: NCIT:C84891 {source="MONDO:equivalentTo", source="DOID:4271"} xref: Orphanet:2552 {source="MONDO:equivalentTo"} xref: SCTID:61842000 {source="DOID:4271"} xref: SCTID:65883009 {source="DOID:4271"} xref: SCTID:699676006 {source="MONDO:equivalentTo", source="DOID:4271"} xref: SCTID:78142009 {source="DOID:4271"} -xref: UMLS:C0085407 {source="ORDO:2552/e", source="Orphanet:2552", source="MONDO:equivalentTo", source="DOID:4271", source="NCIT:C84891"} +xref: UMLS:C0085407 {source="Orphanet:2552", source="MONDO:equivalentTo", source="Orphanet:2552/e", source="DOID:4271", source="NCIT:C84891"} is_a: MONDO:0002041 {source="DOID:4271/inferred", source="MESH:D016881", source="MONDO:Redundant", source="NCIT:C84891", source="indirect"} ! fungal infectious disease is_a: MONDO:0002312 {source="DOID:4271"} ! opportunistic mycosis is_a: MONDO:0005135 {source="Orphanet:2552"} ! parasitic infectious disease @@ -101725,15 +101701,15 @@ synonym: "syndrome, Miller-Fisher" EXACT [MESH:D019846] xref: DOID:12889 {source="MONDO:equivalentTo", source="EFO:0007371"} xref: EFO:0007371 {source="MONDO:equivalentTo"} xref: GARD:0003668 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:98919/ntbt", source="DOID:12889", source="Orphanet:98919"} -xref: MedDRA:10049567 {source="ORDO:98919/e", source="Orphanet:98919"} -xref: MESH:D019846 {source="DOID:12889", source="MONDO:equivalentTo", source="EFO:0007371", source="ORDO:98919/e", source="Orphanet:98919"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="DOID:12889", source="Orphanet:98919/ntbt", source="Orphanet:98919"} +xref: MedDRA:10049567 {source="Orphanet:98919/e", source="Orphanet:98919"} +xref: MESH:D019846 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="EFO:0007371", source="Orphanet:98919"} xref: NCIT:C116958 {source="DOID:12889", source="MONDO:equivalentTo"} xref: Orphanet:98919 {source="MONDO:equivalentTo"} xref: SCTID:1767005 {source="DOID:12889", source="MONDO:equivalentTo"} xref: SCTID:193175006 {source="DOID:12889"} xref: SCTID:230548007 {source="DOID:12889"} -xref: UMLS:C0393799 {source="DOID:12889", source="MONDO:equivalentTo", source="ORDO:98919/e", source="Orphanet:98919"} +xref: UMLS:C0393799 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="Orphanet:98919"} is_a: MONDO:0002254 {source="NCIT:C116958", source="indirect"} ! syndromic disease is_a: MONDO:0002427 {source="MESH:D019846"} ! cerebellar disorder is_a: MONDO:0007179 {source="DOID:12889/inferred", source="EFO:0007371/inferred", source="MESH:D019846/inferred", source="NCIT:C116958", source="indirect"} ! autoimmune disease @@ -101811,15 +101787,15 @@ synonym: "sharp syndrome" EXACT [Orphanet:809] xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"} xref: EFO:0007374 {source="MONDO:equivalentTo"} xref: GARD:0007051 {source="MONDO:equivalentTo"} -xref: ICD10CM:M35.1 {source="ORDO:809/e", source="DOID:3492", source="Orphanet:809"} -xref: MedDRA:10027754 {source="ORDO:809/e", source="Orphanet:809"} -xref: MESH:D008947 {source="MONDO:equivalentTo", source="ORDO:809/e", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"} +xref: ICD10CM:M35.1 {source="Orphanet:809/e", source="DOID:3492", source="Orphanet:809"} +xref: MedDRA:10027754 {source="Orphanet:809/e", source="Orphanet:809"} +xref: MESH:D008947 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"} xref: NCIT:C84892 {source="MONDO:equivalentTo", source="DOID:3492"} xref: Orphanet:809 {source="MONDO:equivalentTo"} xref: SCTID:33110008 {source="DOID:3492"} xref: SCTID:398021003 {source="DOID:3492"} xref: SCTID:398049005 {source="MONDO:equivalentTo", source="DOID:3492"} -xref: UMLS:C0026272 {source="MONDO:equivalentTo", source="NCIT:C84892", source="ORDO:809/e", source="DOID:3492", source="Orphanet:809"} +xref: UMLS:C0026272 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="NCIT:C84892", source="DOID:3492", source="Orphanet:809"} is_a: MONDO:0005554 {source="NCIT:C84892"} ! rheumatic disorder is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C84892", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune disease is_a: MONDO:0016663 {source="Orphanet:809"} ! overlapping connective tissue disease @@ -102568,20 +102544,20 @@ xref: DOID:12662 {source="MONDO:equivalentTo", source="EFO:0007417"} xref: EFO:0007417 {source="MONDO:equivalentTo"} xref: GARD:0007323 {source="MONDO:equivalentTo"} xref: ICD10CM:B41 {source="MONDO:equivalentTo", source="DOID:12662"} -xref: ICD10CM:B41.0 {source="ORDO:73260/btnt", source="Orphanet:73260"} -xref: ICD10CM:B41.7 {source="ORDO:73260/btnt", source="Orphanet:73260"} -xref: ICD10CM:B41.8 {source="ORDO:73260/btnt", source="Orphanet:73260"} -xref: ICD10CM:B41.9 {source="ORDO:73260/btnt", source="DOID:12662", source="Orphanet:73260"} +xref: ICD10CM:B41.0 {source="Orphanet:73260/btnt", source="Orphanet:73260"} +xref: ICD10CM:B41.7 {source="Orphanet:73260/btnt", source="Orphanet:73260"} +xref: ICD10CM:B41.8 {source="Orphanet:73260/btnt", source="Orphanet:73260"} +xref: ICD10CM:B41.9 {source="Orphanet:73260/btnt", source="DOID:12662", source="Orphanet:73260"} xref: ICD9:116.1 {source="DOID:12662"} -xref: MedDRA:10061906 {source="ORDO:73260/e", source="Orphanet:73260"} -xref: MESH:D010229 {source="MONDO:equivalentTo", source="EFO:0007417", source="ORDO:73260/e", source="DOID:12662", source="Orphanet:73260"} +xref: MedDRA:10061906 {source="Orphanet:73260/e", source="Orphanet:73260"} +xref: MESH:D010229 {source="Orphanet:73260/e", source="MONDO:equivalentTo", source="EFO:0007417", source="DOID:12662", source="Orphanet:73260"} xref: NCIT:C34891 {source="MONDO:equivalentTo", source="DOID:12662"} xref: Orphanet:73260 {source="MONDO:equivalentTo"} xref: SCTID:187074005 {source="DOID:12662"} xref: SCTID:187486002 {source="DOID:12662"} xref: SCTID:36866003 {source="MONDO:equivalentTo", source="DOID:12662"} xref: SCTID:59925007 {source="DOID:12662"} -xref: UMLS:C0030409 {source="NCIT:C34891", source="MONDO:equivalentTo", source="ORDO:73260/e", source="DOID:12662", source="Orphanet:73260"} +xref: UMLS:C0030409 {source="Orphanet:73260/e", source="NCIT:C34891", source="MONDO:equivalentTo", source="DOID:12662", source="Orphanet:73260"} is_a: MONDO:0000308 {source="DOID:12662"} ! primary systemic mycosis is_a: MONDO:0002041 {source="DOID:12662/inferred", source="ICD10CM:B41", source="MESH:D010229", source="MONDO:Redundant", source="NCIT:C34891", source="Orphanet:73260", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease relationship: disease_has_infectious_agent NCBITaxon:121759 ! Paracoccidioides brasiliensis @@ -103093,7 +103069,7 @@ synonym: "insufficiency, placental" RELATED [MESH:D010927] synonym: "uteroplacental vascular insufficiency" EXACT [Orphanet:439167] xref: DOID:3891 {source="MONDO:equivalentTo", source="EFO:0007443"} xref: EFO:0007443 {source="MONDO:equivalentTo"} -xref: ICD10CM:O36.5 {source="ORDO:439167/ntbt", source="Orphanet:439167"} +xref: ICD10CM:O36.5 {source="Orphanet:439167/ntbt", source="Orphanet:439167"} xref: ICD9:762.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D010927 {source="DOID:3891", source="MONDO:equivalentTo", source="EFO:0007443"} xref: Orphanet:439167 {source="MONDO:equivalentTo"} @@ -103332,19 +103308,19 @@ synonym: "Pneumoblastoma" EXACT [NCIT:C3732, Orphanet:64741] synonym: "pulmonary blastoma" EXACT [NCIT:C3732] xref: DOID:4765 {source="EFO:0007458", source="MONDO:equivalentTo"} xref: EFO:0007458 {source="MONDO:equivalentTo"} -xref: ICD10CM:C34.1 {source="Orphanet:64741", source="ORDO:64741/nd"} -xref: ICD10CM:C34.2 {source="Orphanet:64741", source="ORDO:64741/nd"} -xref: ICD10CM:C34.3 {source="Orphanet:64741", source="ORDO:64741/nd"} -xref: ICD10CM:C34.8 {source="Orphanet:64741", source="ORDO:64741/nd"} -xref: ICD10CM:C34.9 {source="Orphanet:64741", source="ORDO:64741/nd"} +xref: ICD10CM:C34.1 {source="Orphanet:64741/nd", source="Orphanet:64741"} +xref: ICD10CM:C34.2 {source="Orphanet:64741/nd", source="Orphanet:64741"} +xref: ICD10CM:C34.3 {source="Orphanet:64741/nd", source="Orphanet:64741"} +xref: ICD10CM:C34.8 {source="Orphanet:64741/nd", source="Orphanet:64741"} +xref: ICD10CM:C34.9 {source="Orphanet:64741/nd", source="Orphanet:64741"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8972/3 {source="NCIT:C3732"} -xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="ORDO:64741/e"} +xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="Orphanet:64741/e"} xref: NCIT:C3732 {source="DOID:4765", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:64741 {source="MONDO:equivalentTo"} xref: SCTID:189815007 {source="DOID:4765", source="MONDO:equivalentTo"} xref: SCTID:43149009 {source="DOID:4765"} -xref: UMLS:C0206629 {source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="NCIT:C3732", source="ORDO:64741/e"} +xref: UMLS:C0206629 {source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="Orphanet:64741/e", source="NCIT:C3732"} is_a: MONDO:0005565 {source="DOID:4765", source="MONDO:Redundant", source="NCIT:C3732"} ! blastoma is_a: MONDO:0006279 {source="NCIT:C3732"} ! lung sarcomatoid carcinoma intersection_of: MONDO:0005565 ! blastoma @@ -103498,16 +103474,16 @@ synonym: "Reye's syndrome" EXACT [DOID:14525] xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"} xref: EFO:0007467 {source="MONDO:equivalentTo"} xref: GARD:0007570 {source="MONDO:equivalentTo"} -xref: ICD10CM:G93.7 {source="DOID:14525", source="ORDO:3096/ntbt", source="Orphanet:3096"} +xref: ICD10CM:G93.7 {source="DOID:14525", source="Orphanet:3096/ntbt", source="Orphanet:3096"} xref: ICD9:331.81 {source="DOID:14525", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10039012 {source="ORDO:3096/e", source="Orphanet:3096"} -xref: MESH:D012202 {source="EFO:0007467", source="DOID:14525", source="MONDO:equivalentTo", source="ORDO:3096/e", source="Orphanet:3096"} +xref: MedDRA:10039012 {source="Orphanet:3096/e", source="Orphanet:3096"} +xref: MESH:D012202 {source="EFO:0007467", source="DOID:14525", source="Orphanet:3096/e", source="MONDO:equivalentTo", source="Orphanet:3096"} xref: NCIT:C34983 {source="DOID:14525", source="MONDO:equivalentTo"} xref: Orphanet:3096 {source="MONDO:equivalentTo"} xref: SCTID:154998003 {source="DOID:14525"} xref: SCTID:267688001 {source="DOID:14525"} xref: SCTID:74351001 {source="DOID:14525", source="MONDO:equivalentTo"} -xref: UMLS:C0035400 {source="DOID:14525", source="MONDO:equivalentTo", source="NCIT:C34983", source="ORDO:3096/e", source="Orphanet:3096"} +xref: UMLS:C0035400 {source="DOID:14525", source="Orphanet:3096/e", source="MONDO:equivalentTo", source="NCIT:C34983", source="Orphanet:3096"} is_a: MONDO:0002254 {source="DOID:14525", source="NCIT:C34983"} ! syndromic disease is_a: MONDO:0005554 {source="https://orcid.org/0000-0002-1780-5230"} ! rheumatic disorder is_a: MONDO:0005560 {source="EFO:0007467", source="MESH:D012202/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disorder @@ -103986,21 +103962,21 @@ xref: DOID:14484 {source="MONDO:equivalentTo", source="EFO:0007494"} xref: EFO:0007494 {source="MONDO:equivalentTo"} xref: GARD:0007692 {source="MONDO:equivalentTo"} xref: ICD10CM:B42 {source="MONDO:equivalentTo", source="DOID:14484"} -xref: ICD10CM:B42.0 {source="ORDO:826/btnt", source="Orphanet:826"} -xref: ICD10CM:B42.1 {source="ORDO:826/btnt", source="Orphanet:826"} -xref: ICD10CM:B42.7 {source="ORDO:826/btnt", source="Orphanet:826"} -xref: ICD10CM:B42.8 {source="ORDO:826/btnt", source="Orphanet:826"} -xref: ICD10CM:B42.9 {source="ORDO:826/btnt", source="DOID:14484", source="Orphanet:826"} +xref: ICD10CM:B42.0 {source="Orphanet:826", source="Orphanet:826/btnt"} +xref: ICD10CM:B42.1 {source="Orphanet:826", source="Orphanet:826/btnt"} +xref: ICD10CM:B42.7 {source="Orphanet:826", source="Orphanet:826/btnt"} +xref: ICD10CM:B42.8 {source="Orphanet:826", source="Orphanet:826/btnt"} +xref: ICD10CM:B42.9 {source="DOID:14484", source="Orphanet:826", source="Orphanet:826/btnt"} xref: ICD9:117.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14484"} -xref: MedDRA:10041736 {source="ORDO:826/e", source="Orphanet:826"} -xref: MESH:D013174 {source="ORDO:826/e", source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="EFO:0007494"} +xref: MedDRA:10041736 {source="Orphanet:826", source="Orphanet:826/e"} +xref: MESH:D013174 {source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="EFO:0007494", source="Orphanet:826/e"} xref: Orphanet:826 {source="MONDO:equivalentTo"} xref: SCTID:154408001 {source="DOID:14484"} xref: SCTID:187078008 {source="DOID:14484"} xref: SCTID:187488001 {source="DOID:14484"} xref: SCTID:266218008 {source="DOID:14484"} xref: SCTID:42094007 {source="MONDO:equivalentTo", source="DOID:14484"} -xref: UMLS:C0038034 {source="ORDO:826/e", source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826"} +xref: UMLS:C0038034 {source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="Orphanet:826/e"} is_a: MONDO:0002041 {source="DOID:14484/inferred", source="ICD10CM:B42", source="MESH:D013174/inferred", source="Orphanet:826", source="linkedlifedata/inferred"} ! fungal infectious disease relationship: disease_has_infectious_agent NCBITaxon:29908 ! Sporothrix schenckii relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14484"} ! primary systemic mycosis @@ -104019,15 +103995,15 @@ synonym: "St. Louis encephalitis virus caused infectious encephalitis" EXACT [MO synonym: "St. Louis encephalitis virus infectious encephalitis" EXACT [] xref: DOID:10845 {source="MONDO:equivalentTo", source="EFO:0007495"} xref: EFO:0007495 {source="MONDO:equivalentTo"} -xref: ICD10CM:A83.3 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="ORDO:83484/ntbt"} +xref: ICD10CM:A83.3 {source="Orphanet:83484", source="DOID:10845", source="Orphanet:83484/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.3 {source="DOID:10845", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10041896 {source="Orphanet:83484", source="ORDO:83484/e"} -xref: MESH:D004674 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="EFO:0007495", source="ORDO:83484/e"} +xref: MedDRA:10041896 {source="Orphanet:83484", source="Orphanet:83484/e"} +xref: MESH:D004674 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="Orphanet:83484/e", source="EFO:0007495"} xref: Orphanet:83484 {source="MONDO:equivalentTo"} xref: SCTID:10429004 {source="DOID:10845"} xref: SCTID:417192005 {source="DOID:10845"} xref: SCTID:417607009 {source="DOID:10845", source="MONDO:equivalentTo"} -xref: UMLS:C0014060 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="ORDO:83484/e"} +xref: UMLS:C0014060 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="Orphanet:83484/e"} is_a: MONDO:0005763 {source="MESH:D004674/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! Flaviviridae infectious disease is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83484", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral encephalitis is_a: MONDO:0020067 {source="MESH:D004674/inferred", source="MONDO:Redundant", source="Orphanet:83484", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis @@ -104126,20 +104102,20 @@ xref: DOID:10955 {source="EFO:0007501", source="MONDO:equivalentTo"} xref: EFO:0007501 {source="MONDO:equivalentTo"} xref: GARD:0008195 {source="MONDO:equivalentTo"} xref: ICD10CM:B78 {source="DOID:10955"} -xref: ICD10CM:B78.0 {source="Orphanet:76", source="ORDO:76/btnt"} -xref: ICD10CM:B78.1 {source="Orphanet:76", source="ORDO:76/btnt"} -xref: ICD10CM:B78.7 {source="Orphanet:76", source="ORDO:76/btnt"} -xref: ICD10CM:B78.9 {source="Orphanet:76", source="DOID:10955", source="ORDO:76/btnt"} +xref: ICD10CM:B78.0 {source="Orphanet:76", source="Orphanet:76/btnt"} +xref: ICD10CM:B78.1 {source="Orphanet:76", source="Orphanet:76/btnt"} +xref: ICD10CM:B78.7 {source="Orphanet:76", source="Orphanet:76/btnt"} +xref: ICD10CM:B78.9 {source="Orphanet:76", source="DOID:10955", source="Orphanet:76/btnt"} xref: ICD9:127.2 {source="DOID:10955"} -xref: MedDRA:10042254 {source="Orphanet:76", source="ORDO:76/e"} -xref: MESH:D013322 {source="Orphanet:76", source="ORDO:76/e", source="EFO:0007501", source="DOID:10955", source="MONDO:equivalentTo"} +xref: MedDRA:10042254 {source="Orphanet:76", source="Orphanet:76/e"} +xref: MESH:D013322 {source="Orphanet:76", source="EFO:0007501", source="DOID:10955", source="MONDO:equivalentTo", source="Orphanet:76/e"} xref: NCIT:C128398 {source="MONDO:equivalentTo"} xref: Orphanet:76 {source="MONDO:equivalentTo"} xref: SCTID:1214006 {source="DOID:10955"} xref: SCTID:187176005 {source="MONDO:equivalentTo"} xref: SCTID:187177001 {source="DOID:10955"} xref: SCTID:187537002 {source="DOID:10955"} -xref: UMLS:C0038463 {source="Orphanet:76", source="ORDO:76/e", source="NCIT:C128398", source="DOID:10955", source="MONDO:equivalentTo"} +xref: UMLS:C0038463 {source="Orphanet:76", source="NCIT:C128398", source="DOID:10955", source="MONDO:equivalentTo", source="Orphanet:76/e"} xref: UMLS:C0085810 {source="Orphanet:76", source="MONDO:equivalentTo"} xref: UMLS:C0348996 {source="MONDO:equivalentTo"} is_a: MONDO:0004664 {source="DOID:10955", source="MESH:D013322/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis @@ -104259,9 +104235,9 @@ synonym: "TOS" EXACT ABBREVIATION [Orphanet:97330] synonym: "TOS - thoracic outlet syndrome" EXACT [DOID:3103] xref: DOID:3103 {source="MONDO:equivalentTo", source="EFO:0007507"} xref: EFO:0007507 {source="MONDO:equivalentTo"} -xref: ICD10CM:G54.0 {source="ORDO:97330/ntbt", source="DOID:3103", source="Orphanet:97330"} -xref: MedDRA:10048627 {source="ORDO:97330/e", source="Orphanet:97330"} -xref: MESH:D013901 {source="DOID:3103", source="MONDO:equivalentTo", source="EFO:0007507", source="ORDO:97330/e", source="Orphanet:97330"} +xref: ICD10CM:G54.0 {source="DOID:3103", source="Orphanet:97330/ntbt", source="Orphanet:97330"} +xref: MedDRA:10048627 {source="Orphanet:97330/e", source="Orphanet:97330"} +xref: MESH:D013901 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="EFO:0007507", source="Orphanet:97330"} xref: NCIT:C85188 {source="DOID:3103", source="MONDO:equivalentTo"} xref: Orphanet:97330 {source="MONDO:equivalentTo"} xref: SCTID:128210009 {source="DOID:3103", source="MONDO:equivalentTo"} @@ -104271,7 +104247,7 @@ xref: SCTID:193108007 {source="DOID:3103"} xref: SCTID:2040007 {source="DOID:3103", source="MONDO:superClassOf"} xref: SCTID:212769008 {source="DOID:3103"} xref: SCTID:393578000 {source="DOID:3103"} -xref: UMLS:C0039984 {source="DOID:3103", source="MONDO:equivalentTo", source="ORDO:97330/e", source="NCIT:C85188", source="Orphanet:97330"} +xref: UMLS:C0039984 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="NCIT:C85188", source="Orphanet:97330"} is_a: MONDO:0002254 {source="NCIT:C85188"} ! syndromic disease is_a: MONDO:0005385 {source="DOID:3103", source="EFO:0007507", source="MESH:D013901", source="MONDO:Redundant"} ! vascular disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020002"} ! rare @@ -104431,17 +104407,17 @@ synonym: "visceral larva migrans" EXACT [DOID:9790] xref: DOID:9790 {source="MONDO:equivalentTo", source="EFO:0007516"} xref: EFO:0007516 {source="MONDO:equivalentTo"} xref: GARD:0007788 {source="MONDO:equivalentTo"} -xref: ICD10CM:B83.0 {source="Orphanet:3343", source="ORDO:3343/e", source="DOID:9790"} +xref: ICD10CM:B83.0 {source="Orphanet:3343", source="Orphanet:3343/e", source="DOID:9790"} xref: ICD9:128.0 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10044269 {source="Orphanet:3343", source="ORDO:3343/e"} +xref: MedDRA:10044269 {source="Orphanet:3343", source="Orphanet:3343/e"} xref: MESH:D007816 {source="EFO:0007516", source="MONDO:superClassOf", source="DOID:9790"} -xref: MESH:D014120 {source="Orphanet:3343", source="ORDO:3343/e", source="MONDO:equivalentTo"} +xref: MESH:D014120 {source="Orphanet:3343", source="MONDO:equivalentTo", source="Orphanet:3343/e"} xref: NCIT:C34758 {source="MONDO:equivalentTo", source="DOID:9790"} xref: Orphanet:3343 {source="MONDO:equivalentTo"} xref: SCTID:406619001 {source="MONDO:equivalentTo"} xref: SCTID:87121004 {source="DOID:9790"} xref: UMLS:C0023049 {source="MONDO:notFoundInDiseaseSubset", source="DOID:9790", source="NCIT:C34758"} -xref: UMLS:C0040553 {source="Orphanet:3343", source="ORDO:3343/e", source="MONDO:equivalentTo"} +xref: UMLS:C0040553 {source="Orphanet:3343", source="MONDO:equivalentTo", source="Orphanet:3343/e"} is_a: MONDO:0004664 {source="DOID:9790", source="MESH:D014120/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:9790/inferred", source="EFO:0007516", source="MESH:D014120/inferred", source="MONDO:Redundant", source="NCIT:C34758", source="Orphanet:3343", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -104535,13 +104511,13 @@ synonym: "trench fevers" RELATED [MESH:D014205] synonym: "Wolhynian fever" EXACT [DOID:11101] xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"} xref: EFO:0007519 {source="MONDO:equivalentTo"} -xref: ICD10CM:A79.0 {source="MONDO:equivalentTo", source="DOID:11101", source="ORDO:64694/e", source="Orphanet:64694"} +xref: ICD10CM:A79.0 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"} xref: ICD9:083.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11101"} -xref: MedDRA:10044582 {source="ORDO:64694/e", source="Orphanet:64694"} -xref: MESH:D014205 {source="MONDO:equivalentTo", source="EFO:0007519", source="DOID:11101", source="ORDO:64694/e", source="Orphanet:64694"} +xref: MedDRA:10044582 {source="Orphanet:64694/e", source="Orphanet:64694"} +xref: MESH:D014205 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="EFO:0007519", source="DOID:11101", source="Orphanet:64694"} xref: Orphanet:64694 {source="MONDO:equivalentTo"} xref: SCTID:82214002 {source="MONDO:equivalentTo", source="DOID:11101"} -xref: UMLS:C0040830 {source="MONDO:equivalentTo", source="DOID:11101", source="ORDO:64694/e", source="Orphanet:64694"} +xref: UMLS:C0040830 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"} is_a: MONDO:0005113 {source="Orphanet:64694"} ! bacterial infectious disease is_a: MONDO:0005664 {source="DOID:11101", source="MESH:D014205", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartonellosis intersection_of: MONDO:0005550 ! infectious disease @@ -104987,7 +104963,7 @@ synonym: "Viruses caused encephalitis" EXACT [MONDO:patterns/specific_infectious synonym: "Viruses encephalitis" EXACT [] xref: DOID:646 {source="MONDO:equivalentTo", source="EFO:0007538"} xref: EFO:0007538 {source="MONDO:equivalentTo"} -xref: MedDRA:10058805 {source="ORDO:98252/e", source="Orphanet:98252"} +xref: MedDRA:10058805 {source="Orphanet:98252/e", source="Orphanet:98252"} xref: MESH:D004671 {source="DOID:646", source="EFO:0007538"} xref: NCIT:C34576 {source="DOID:646", source="MONDO:superClassOf"} xref: NCIT:C35302 {source="MONDO:equivalentTo"} @@ -105001,7 +104977,7 @@ xref: SCTID:34476008 {source="MONDO:equivalentTo"} xref: SCTID:68197003 {source="DOID:646"} xref: UMLS:C0014055 {source="DOID:646", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0243010 {source="MONDO:equivalentTo", source="NCIT:C35302"} -xref: UMLS:C0596773 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98252/e", source="Orphanet:98252"} +xref: UMLS:C0596773 {source="Orphanet:98252/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98252"} is_a: MONDO:0005108 {source="MONDO:Redundant", source="Orphanet:98252", source="indirect"} ! viral infectious disease is_a: MONDO:0019956 {source="DOID:646", source="MONDO:Redundant", source="NCIT:C35302/inferred", source="Orphanet:98252", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:98252", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disorder of the nervous system @@ -105039,7 +105015,6 @@ synonym: "Viruses hepatitis" EXACT [] xref: DOID:1884 {source="MONDO:equivalentTo", source="EFO:0007540"} xref: EFO:0004196 {source="MONDO:equivalentTo"} xref: EFO:0007540 {source="MONDO:Homolog"} -xref: ICD10CM:B15-B19 {source="MONDO:equivalentTo"} xref: ICD10CM:B15-B19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:573.1 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D006524 {source="DOID:1884", source="MONDO:superClassOf", source="MONDO:NonHumanEquivalent"} @@ -105139,17 +105114,17 @@ xref: DOID:9931 {source="EFO:0007544", source="MONDO:equivalentTo"} xref: EFO:0007544 {source="MONDO:equivalentTo"} xref: GARD:0009449 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:A39.1 {source="MONDO:equivalentTo"} -xref: ICD10EXP:A39.1+ {source="ORDO:100067/e", source="Orphanet:100067"} -xref: ICD10EXP:E35.1* {source="ORDO:100067/e", source="Orphanet:100067"} +xref: ICD10EXP:A39.1+ {source="Orphanet:100067", source="Orphanet:100067/e"} +xref: ICD10EXP:E35.1* {source="Orphanet:100067", source="Orphanet:100067/e"} xref: ICD9:036.3 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10047847 {source="ORDO:100067/e", source="Orphanet:100067"} -xref: MESH:D014884 {source="DOID:9931", source="EFO:0007544", source="ORDO:100067/e", source="Orphanet:100067", source="MONDO:equivalentTo"} +xref: MedDRA:10047847 {source="Orphanet:100067", source="Orphanet:100067/e"} +xref: MESH:D014884 {source="DOID:9931", source="EFO:0007544", source="Orphanet:100067", source="MONDO:equivalentTo", source="Orphanet:100067/e"} xref: NCIT:C85225 {source="DOID:9931", source="MONDO:equivalentTo"} xref: Orphanet:100067 {source="MONDO:equivalentTo"} xref: SCTID:154709005 {source="DOID:9931"} xref: SCTID:267484005 {source="DOID:9931"} xref: SCTID:36102002 {source="MONDO:equivalentTo"} -xref: UMLS:C0043068 {source="DOID:9931", source="ORDO:100067/e", source="Orphanet:100067", source="MONDO:equivalentTo", source="NCIT:C85225"} +xref: UMLS:C0043068 {source="DOID:9931", source="Orphanet:100067", source="MONDO:equivalentTo", source="Orphanet:100067/e", source="NCIT:C85225"} xref: UMLS:C1403891 {source="Orphanet:100067", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="NCIT:C85225"} ! syndromic disease is_a: MONDO:0005495 {source="DOID:9931", source="EFO:0007544", source="MESH:D014884/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! adrenal gland disorder @@ -105543,14 +105518,14 @@ synonym: "Salonen-Herva-Norio syndrome" EXACT [DOID:0050779] xref: DOID:0050779 {source="EFO:1000033", source="MONDO:equivalentTo"} xref: EFO:1000033 {source="MONDO:equivalentTo"} xref: GARD:0006683 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2189", source="EFO:1000033", source="DOID:0050779", source="ORDO:2189/attributed", source="ORDO:2189/ntbt"} -xref: MESH:C536079 {source="ORDO:2189/e", source="Orphanet:2189", source="MONDO:equivalentTo"} -xref: OMIM:236680 {source="Orphanet:2189", source="EFO:1000033", source="MONDO:superClassOf", source="DOID:0050779", source="ORDO:2189/btnt"} -xref: OMIM:614120 {source="Orphanet:2189", source="EFO:1000033", source="MONDO:superClassOf", source="DOID:0050779", source="ORDO:2189/btnt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2189/attributed", source="Orphanet:2189/ntbt", source="Orphanet:2189", source="EFO:1000033", source="DOID:0050779"} +xref: MESH:C536079 {source="Orphanet:2189", source="MONDO:equivalentTo", source="Orphanet:2189/e"} +xref: OMIM:236680 {source="Orphanet:2189/btnt", source="Orphanet:2189", source="EFO:1000033", source="MONDO:superClassOf", source="DOID:0050779"} +xref: OMIM:614120 {source="Orphanet:2189/btnt", source="Orphanet:2189", source="EFO:1000033", source="MONDO:superClassOf", source="DOID:0050779"} xref: OMIMPS:236680 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="MONDO:equivalentTo", source="DOID:0050779"} xref: SCTID:721232000 {source="MONDO:equivalentTo"} -xref: UMLS:C2931104 {source="ORDO:2189/e", source="Orphanet:2189", source="MONDO:equivalentTo"} +xref: UMLS:C2931104 {source="Orphanet:2189", source="MONDO:equivalentTo", source="Orphanet:2189/e"} is_a: MONDO:0006025 {source="DOID:0050779", source="EFO:1000033", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015335 {source="Orphanet:2189"} ! orofacial clefting syndrome is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:2189", source="Orphanet:2189/inferred"} ! genetic nervous system disorder @@ -105647,14 +105622,14 @@ synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164] xref: DOID:4680 {source="EFO:1000040", source="MONDO:equivalentTo"} xref: EFO:1000040 {source="MONDO:equivalentTo"} xref: GARD:0010804 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C50.0 {source="Orphanet:213531", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.1 {source="Orphanet:213531", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.3 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.4 {source="Orphanet:213531", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.5 {source="Orphanet:213531", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.6 {source="Orphanet:213531", source="MONDO:relatedTo", source="ORDO:213531/btnt"} -xref: ICD10CM:C50.8 {source="Orphanet:213531", source="ORDO:213531/btnt"} +xref: ICD10CM:C50.0 {source="Orphanet:213531", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.1 {source="Orphanet:213531", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.3 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.4 {source="Orphanet:213531", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.5 {source="Orphanet:213531", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.6 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"} +xref: ICD10CM:C50.8 {source="Orphanet:213531", source="Orphanet:213531/btnt"} xref: NCIT:C5164 {source="EFO:1000040", source="MONDO:equivalentTo", source="DOID:4680", source="exact-label-match"} xref: ONCOTREE:MBC {source="MONDO:equivalentTo"} xref: Orphanet:213531 {source="MONDO:equivalentTo"} @@ -105697,7 +105672,7 @@ synonym: "ovarian clear cell adenocarcinoma" EXACT [NCIT:C40078, Orphanet:398971 synonym: "ovary clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5304 {source="EFO:1000042", source="MONDO:equivalentTo"} xref: EFO:1000042 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="Orphanet:398971", source="ORDO:398971/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:398971", source="Orphanet:398971/ntbt"} xref: NCIT:C40078 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo"} xref: Orphanet:398971 {source="MONDO:equivalentTo"} xref: SCTID:763131005 {source="MONDO:equivalentTo"} @@ -106301,10 +106276,10 @@ synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492] synonym: "odontoma, ameloblastic, malignant" EXACT [NCIT:C7492] xref: EFO:1000078 {source="MONDO:equivalentTo"} xref: GARD:0011855 {source="MONDO:equivalentTo"} -xref: ICD10CM:C41.1 {source="Orphanet:314422", source="ORDO:314422/ntbt"} +xref: ICD10CM:C41.1 {source="Orphanet:314422", source="Orphanet:314422/ntbt"} xref: NCIT:C7492 {source="EFO:1000078", source="MONDO:equivalentTo"} xref: Orphanet:314422 {source="MONDO:equivalentTo"} -xref: UMLS:C1314678 {source="Orphanet:314422", source="MONDO:equivalentTo", source="ORDO:314422/e", source="NCIT:C7492"} +xref: UMLS:C1314678 {source="Orphanet:314422", source="MONDO:equivalentTo", source="Orphanet:314422/e", source="NCIT:C7492"} is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! head and neck carcinoma is_a: MONDO:0004993 {source="EFO:1000078", source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! carcinoma is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! head and neck cancer @@ -107141,7 +107116,7 @@ xref: ONCOTREE:CLNC {source="MONDO:equivalentTo"} xref: Orphanet:251931 {source="MONDO:equivalentTo"} xref: SCTID:128858006 {source="DOID:6458"} xref: SCTID:716592003 {source="MONDO:equivalentTo"} -xref: UMLS:C1370507 {source="NCIT:C6905", source="DOID:6458", source="MONDO:equivalentTo", source="Orphanet:251931", source="ORDO:251931/e"} +xref: UMLS:C1370507 {source="Orphanet:251931/e", source="NCIT:C6905", source="DOID:6458", source="MONDO:equivalentTo", source="Orphanet:251931"} is_a: MONDO:0002913 {source="DOID:6458", source="NCIT:C6905/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebellar neoplasm is_a: MONDO:0016726 {source="Orphanet:251931"} ! neuronal tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma xsd:anyURI {source="GARD:0010642"} @@ -107364,9 +107339,9 @@ synonym: "squamous cervical cancer" EXACT [NCIT:C4028] synonym: "uterine cervix squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4028] xref: DOID:3744 {source="EFO:1000172", source="MONDO:equivalentTo"} xref: EFO:1000172 {source="MONDO:equivalentTo"} -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213767/btnt", source="Orphanet:213767"} -xref: ICD10CM:C53.1 {source="ORDO:213767/btnt", source="Orphanet:213767"} -xref: ICD10CM:C53.8 {source="ORDO:213767/btnt", source="Orphanet:213767"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213767", source="Orphanet:213767/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213767", source="Orphanet:213767/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213767", source="Orphanet:213767/btnt"} xref: NCIT:C4028 {source="DesignPattern", source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo"} xref: ONCOTREE:CESC {source="MONDO:equivalentTo"} xref: Orphanet:213767 {source="MONDO:equivalentTo"} @@ -107994,7 +107969,7 @@ synonym: "LPD" EXACT ABBREVIATION [Orphanet:71274] xref: DOID:5728 {source="MONDO:equivalentTo"} xref: EFO:1000220 {source="MONDO:equivalentTo"} xref: GARD:0012843 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D20.1 {source="Orphanet:71274", source="ORDO:71274/ntbt"} +xref: ICD10CM:D20.1 {source="Orphanet:71274", source="Orphanet:71274/ntbt"} xref: NCIT:C3958 {source="EFO:1000220", source="MONDO:equivalentTo", source="DOID:5728"} xref: Orphanet:71274 {source="MONDO:equivalentTo"} xref: SCTID:62557001 {source="MONDO:equivalentTo", source="DOID:5728"} @@ -108481,7 +108456,7 @@ synonym: "polygonal cell type hepatocellular carcinoma with fibrous Stroma" EXAC xref: DOID:5015 {source="MONDO:equivalentTo"} xref: EFO:1000256 {source="MONDO:equivalentTo"} xref: GARD:0009396 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:C22.0 {source="Orphanet:401920", source="ORDO:401920/ntbt"} +xref: ICD10CM:C22.0 {source="Orphanet:401920/ntbt", source="Orphanet:401920"} xref: ICDO:8171/3 {source="NCIT:C4131"} xref: MESH:C537258 {source="DOID:5015", source="MONDO:equivalentTo"} xref: NCIT:C4131 {source="DOID:5015", source="EFO:1000256", source="MONDO:equivalentTo"} @@ -108857,13 +108832,13 @@ synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475] synonym: "stomach squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5516 {source="MONDO:equivalentTo"} xref: EFO:1000278 {source="MONDO:equivalentTo"} -xref: ICD10CM:C16.0 {source="Orphanet:418959", source="ORDO:418959/nd"} -xref: ICD10CM:C16.1 {source="Orphanet:418959", source="ORDO:418959/nd"} -xref: ICD10CM:C16.2 {source="Orphanet:418959", source="ORDO:418959/nd"} -xref: ICD10CM:C16.3 {source="Orphanet:418959", source="ORDO:418959/nd"} -xref: ICD10CM:C16.4 {source="Orphanet:418959", source="ORDO:418959/nd"} -xref: ICD10CM:C16.5 {source="Orphanet:418959", source="ORDO:418959/nd"} -xref: ICD10CM:C16.8 {source="Orphanet:418959", source="ORDO:418959/nd"} +xref: ICD10CM:C16.0 {source="Orphanet:418959", source="Orphanet:418959/nd"} +xref: ICD10CM:C16.1 {source="Orphanet:418959", source="Orphanet:418959/nd"} +xref: ICD10CM:C16.2 {source="Orphanet:418959", source="Orphanet:418959/nd"} +xref: ICD10CM:C16.3 {source="Orphanet:418959", source="Orphanet:418959/nd"} +xref: ICD10CM:C16.4 {source="Orphanet:418959", source="Orphanet:418959/nd"} +xref: ICD10CM:C16.5 {source="Orphanet:418959", source="Orphanet:418959/nd"} +xref: ICD10CM:C16.8 {source="Orphanet:418959", source="Orphanet:418959/nd"} xref: NCIT:C5475 {source="EFO:1000278", source="MONDO:equivalentTo", source="DOID:5516"} xref: Orphanet:418959 {source="MONDO:equivalentTo"} xref: SCTID:766980008 {source="MONDO:equivalentTo"} @@ -109033,11 +109008,11 @@ synonym: "somatotropic adenoma" RELATED [Orphanet:96256] xref: DOID:6255 {source="MONDO:equivalentTo"} xref: EFO:0004125 {source="MONDO:equivalentTo"} xref: EFO:1000287 {source="MONDO:equivalentTo"} -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:96256", source="ORDO:96256/nd"} -xref: ICD10CM:E22.0 {source="Orphanet:96256", source="ORDO:96256/nd"} +xref: ICD10CM:D35.2 {source="Orphanet:96256/nd", source="MONDO:relatedTo", source="Orphanet:96256"} +xref: ICD10CM:E22.0 {source="Orphanet:96256/nd", source="Orphanet:96256"} xref: MESH:D049912 {source="EFO:0004125", source="DOID:6255"} xref: NCIT:C7461 {source="EFO:1000287", source="MONDO:equivalentTo"} -xref: OMIM:102200 {source="EFO:0004125", source="Orphanet:96256", source="MONDO:superClassOf", source="ORDO:96256/e"} +xref: OMIM:102200 {source="EFO:0004125", source="Orphanet:96256", source="MONDO:superClassOf", source="Orphanet:96256/e"} xref: OMIM:300943 {source="EFO:0004125", source="MONDO:superClassOf"} xref: Orphanet:96256 {source="MONDO:equivalentTo"} xref: SCTID:254957009 {source="MONDO:equivalentTo"} @@ -109188,21 +109163,21 @@ synonym: "molar pregnancy" EXACT [NCIT:C3110, Orphanet:99927] xref: EFO:1000298 {source="MONDO:equivalentTo"} xref: GARD:0010263 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:O00-O08 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:O01.0 {source="ORDO:99927/btnt", source="Orphanet:99927"} -xref: ICD10CM:O01.1 {source="ORDO:99927/btnt", source="Orphanet:99927"} -xref: ICD10CM:O01.9 {source="ORDO:99927/btnt", source="Orphanet:99927"} +xref: ICD10CM:O01.0 {source="Orphanet:99927/btnt", source="Orphanet:99927"} +xref: ICD10CM:O01.1 {source="Orphanet:99927/btnt", source="Orphanet:99927"} +xref: ICD10CM:O01.9 {source="Orphanet:99927/btnt", source="Orphanet:99927"} xref: ICD9:631 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9100/0 {source="NCIT:C3110"} -xref: MedDRA:10020481 {source="ORDO:99927/e", source="Orphanet:99927"} -xref: MESH:D006828 {source="MONDO:equivalentTo", source="ORDO:99927/e", source="Orphanet:99927"} +xref: MedDRA:10020481 {source="Orphanet:99927/e", source="Orphanet:99927"} +xref: MESH:D006828 {source="Orphanet:99927/e", source="MONDO:equivalentTo", source="Orphanet:99927"} xref: NCIT:C3110 {source="EFO:1000298", source="MONDO:equivalentTo"} -xref: OMIM:231090 {source="EFO:1000298", source="ORDO:99927/btnt", source="MONDO:superClassOf", source="Orphanet:99927"} -xref: OMIM:614293 {source="EFO:1000298", source="ORDO:99927/btnt", source="MONDO:superClassOf", source="Orphanet:99927"} +xref: OMIM:231090 {source="EFO:1000298", source="MONDO:superClassOf", source="Orphanet:99927/btnt", source="Orphanet:99927"} +xref: OMIM:614293 {source="EFO:1000298", source="MONDO:superClassOf", source="Orphanet:99927/btnt", source="Orphanet:99927"} xref: OMIMPS:231090 {source="MONDO:equivalentTo"} xref: ONCOTREE:MP {source="MONDO:equivalentTo"} xref: Orphanet:99927 {source="MONDO:equivalentTo"} xref: SCTID:44782008 {source="MONDO:equivalentTo"} -xref: UMLS:C0020217 {source="NCIT:C3110", source="MONDO:equivalentTo", source="ORDO:99927/e", source="Orphanet:99927"} +xref: UMLS:C0020217 {source="Orphanet:99927/e", source="NCIT:C3110", source="MONDO:equivalentTo", source="Orphanet:99927"} is_a: MONDO:0016784 {source="MONDO:Redundant", source="ONCOTREE:MP", source="Orphanet:99927"} ! gestational trophoblastic disease relationship: disease_has_location UBERON:0001987 ! placenta relationship: has_modifier MONDO:0021152 {source="OMIMPS:231090"} ! inherited @@ -109377,8 +109352,8 @@ synonym: "renal medulla carcinoma" EXACT [] synonym: "renal medullary carcinoma" EXACT [NCIT:C7572] xref: EFO:1000314 {source="MONDO:equivalentTo"} xref: GARD:0013175 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C64 {source="Orphanet:319319", source="ORDO:319319/ntbt"} -xref: MedDRA:10064886 {source="ORDO:319319/e", source="Orphanet:319319"} +xref: ICD10CM:C64 {source="Orphanet:319319/ntbt", source="Orphanet:319319"} +xref: MedDRA:10064886 {source="Orphanet:319319", source="Orphanet:319319/e"} xref: NCIT:C7572 {source="MONDO:equivalentTo", source="EFO:1000314"} xref: ONCOTREE:MRC {source="MONDO:equivalentTo"} xref: Orphanet:319319 {source="MONDO:equivalentTo"} @@ -109672,17 +109647,17 @@ synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM] xref: DOID:3319 {source="MONDO:equivalentTo"} xref: EFO:1000334 {source="MONDO:equivalentTo"} xref: GARD:0003319 {source="MONDO:equivalentTo"} -xref: ICD10CM:D48.7 {source="Orphanet:538", source="ORDO:538/attributed", source="ORDO:538/ntbt"} +xref: ICD10CM:D48.7 {source="Orphanet:538", source="Orphanet:538/attributed", source="Orphanet:538/ntbt"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049459 {source="ORDO:538/e", source="Orphanet:538"} -xref: MESH:D018192 {source="ORDO:538/e", source="MONDO:equivalentTo", source="Orphanet:538"} +xref: MedDRA:10049459 {source="Orphanet:538", source="Orphanet:538/e"} +xref: MESH:D018192 {source="MONDO:equivalentTo", source="Orphanet:538", source="Orphanet:538/e"} xref: NCIT:C38153 {source="MONDO:equivalentTo", source="EFO:1000334"} -xref: OMIM:606690 {source="MONDO:subClassOf", source="ORDO:538/e", source="Orphanet:538"} +xref: OMIM:606690 {source="MONDO:subClassOf", source="Orphanet:538", source="Orphanet:538/e"} xref: ONCOTREE:LAM {source="MONDO:equivalentTo"} xref: Orphanet:538 {source="MONDO:equivalentTo", source="OMIM:606690"} xref: SCTID:277844007 {source="MONDO:equivalentTo", source="DOID:3319"} xref: UMLS:C0349649 {source="NCIT:C38153", source="MONDO:notFoundInDiseaseSubset", source="DOID:3319"} -xref: UMLS:C0751674 {source="ORDO:538/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:538", source="OMIM:606690"} +xref: UMLS:C0751674 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:538", source="OMIM:606690", source="Orphanet:538/e"} is_a: MONDO:0005087 {source="Orphanet:538"} ! respiratory system disorder is_a: MONDO:0011705 {source="MONDO:Redundant", source="NCIT:C38153"} ! lymphangioleiomyomatosis is_a: MONDO:0017027 {source="Orphanet:538"} ! primary interstitial lung disease specific to adulthood @@ -109997,18 +109972,18 @@ xref: DOID:1790 {source="MONDO:equivalentTo"} xref: EFO:1000355 {source="MONDO:equivalentTo"} xref: GARD:0007026 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100001 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C45.0 {source="ORDO:50251/e", source="Orphanet:50251"} +xref: ICD10CM:C45.0 {source="Orphanet:50251/e", source="Orphanet:50251"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9050/3 {source="NCIT:C4456"} -xref: MedDRA:10027406 {source="ORDO:50251/e", source="Orphanet:50251"} +xref: MedDRA:10027406 {source="Orphanet:50251/e", source="Orphanet:50251"} xref: MESH:C562839 {source="DOID:1790", source="MONDO:equivalentTo"} -xref: MESH:D008654 {source="MONDO:subClassOf", source="ORDO:50251/e", source="Orphanet:50251"} +xref: MESH:D008654 {source="MONDO:subClassOf", source="Orphanet:50251/e", source="Orphanet:50251"} xref: NCIT:C4456 {source="DOID:1790", source="EFO:1000355", source="MONDO:equivalentTo"} -xref: OMIM:156240 {source="DOID:1790", source="MONDO:equivalentTo", source="ORDO:50251/e", source="Orphanet:50251"} +xref: OMIM:156240 {source="DOID:1790", source="Orphanet:50251/e", source="MONDO:equivalentTo", source="Orphanet:50251"} xref: Orphanet:50251 {source="OMIM:156240", source="MONDO:equivalentTo"} xref: SCTID:109378008 {source="MONDO:equivalentTo"} xref: SCTID:62064005 {source="DOID:1790"} -xref: UMLS:C0025500 {source="MONDO:subClassOf", source="ORDO:50251/e", source="Orphanet:50251"} +xref: UMLS:C0025500 {source="MONDO:subClassOf", source="Orphanet:50251/e", source="Orphanet:50251"} xref: UMLS:C0278752 {source="DOID:1790", source="MONDO:equivalentTo"} xref: UMLS:C0345967 {source="DOID:1790", source="OMIM:156240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4456"} xref: UMLS:C0392400 {source="DOID:1790", source="MONDO:notFoundInDiseaseSubset"} @@ -110083,7 +110058,6 @@ synonym: "urothelial tract/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297] synonym: "urothelial/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297] xref: DOID:3996 {source="MONDO:equivalentTo"} xref: EFO:1000363 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64-C68 {source="MONDO:equivalentTo"} xref: ICD10CM:C64-C68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:C68.9 {source="DOID:3996"} xref: ICD9:189.9 {source="DOID:3996"} @@ -110653,7 +110627,7 @@ synonym: "ovarian endometrioid carcinoma" EXACT [DOID:5828, NCIT:C7979] synonym: "ovary endometrium adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5828 {source="MONDO:equivalentTo"} xref: EFO:1000416 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:454723/ntbt", source="Orphanet:454723"} +xref: ICD10CM:C56 {source="Orphanet:454723", source="Orphanet:454723/ntbt"} xref: NCIT:C7979 {source="MONDO:equivalentTo", source="EFO:1000416", source="DOID:5828"} xref: ONCOTREE:EOV {source="MONDO:equivalentTo"} xref: Orphanet:454723 {source="MONDO:equivalentTo"} @@ -110848,11 +110822,11 @@ synonym: "Pancreatic acinar cell cancer" EXACT [NCIT:C7977] synonym: "pancreatic acinar cell carcinoma" EXACT [DOID:5742, MONDO:patterns/location, NCIT:C7977, Orphanet:424046] xref: DOID:5742 {source="MONDO:equivalentTo"} xref: EFO:1000439 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.0 {source="ORDO:424046/nd", source="Orphanet:424046"} -xref: ICD10CM:C25.1 {source="ORDO:424046/nd", source="Orphanet:424046"} -xref: ICD10CM:C25.2 {source="ORDO:424046/nd", source="Orphanet:424046"} -xref: ICD10CM:C25.7 {source="ORDO:424046/nd", source="Orphanet:424046"} -xref: ICD10CM:C25.8 {source="ORDO:424046/nd", source="Orphanet:424046"} +xref: ICD10CM:C25.0 {source="Orphanet:424046/nd", source="Orphanet:424046"} +xref: ICD10CM:C25.1 {source="Orphanet:424046/nd", source="Orphanet:424046"} +xref: ICD10CM:C25.2 {source="Orphanet:424046/nd", source="Orphanet:424046"} +xref: ICD10CM:C25.7 {source="Orphanet:424046/nd", source="Orphanet:424046"} +xref: ICD10CM:C25.8 {source="Orphanet:424046/nd", source="Orphanet:424046"} xref: NCIT:C7977 {source="DOID:5742", source="MONDO:equivalentTo", source="EFO:1000439"} xref: ONCOTREE:PAAC {source="MONDO:equivalentTo"} xref: Orphanet:424046 {source="MONDO:equivalentTo"} @@ -111190,7 +111164,7 @@ synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685, Orphanet:168816] synonym: "peritoneal multicystic mesothelioma" EXACT [NCIT:C6536] xref: EFO:1000468 {source="MONDO:equivalentTo"} xref: GARD:0010777 {source="MONDO:equivalentTo"} -xref: ICD10CM:C45.1 {source="ORDO:168816/ntbt", source="Orphanet:168816"} +xref: ICD10CM:C45.1 {source="Orphanet:168816/ntbt", source="Orphanet:168816"} xref: NCIT:C6536 {source="MONDO:equivalentTo", source="EFO:1000468"} xref: Orphanet:168816 {source="MONDO:equivalentTo"} xref: SCTID:716650003 {source="MONDO:equivalentTo"} @@ -111308,14 +111282,14 @@ synonym: "pituicytoma (WHO grade I)" EXACT [NCIT:C94524] synonym: "posterior pituitary astrocytoma" EXACT [NCIT:C94524] synonym: "PTCY" RELATED ABBREVIATION [ONCOTREE:PTCY] xref: EFO:1000477 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251623/ntbt", source="Orphanet:251623"} +xref: ICD10CM:C71.9 {source="Orphanet:251623", source="Orphanet:251623/ntbt"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9432/1 {source="NCIT:C94524"} xref: NCIT:C94524 {source="MONDO:equivalentTo", source="EFO:1000477"} xref: ONCOTREE:PTCY {source="MONDO:equivalentTo"} xref: Orphanet:251623 {source="MONDO:equivalentTo"} xref: SCTID:608817003 {source="MONDO:equivalentTo"} -xref: UMLS:C2986550 {source="NCIT:C94524", source="MONDO:equivalentTo", source="Orphanet:251623", source="ORDO:251623/e"} +xref: UMLS:C2986550 {source="Orphanet:251623/e", source="NCIT:C94524", source="MONDO:equivalentTo", source="Orphanet:251623"} is_a: MONDO:0003257 {source="NCIT:C94524"} ! posterior pituitary gland neoplasm is_a: MONDO:0016685 {source="Orphanet:251623", source="not supported by NCIT"} ! low-grade astrocytoma @@ -111335,9 +111309,9 @@ synonym: "pituitary gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3329] synonym: "PTAD" RELATED ABBREVIATION [ONCOTREE:PTAD] xref: DOID:3829 {source="MONDO:equivalentTo", source="EFO:1000478"} xref: EFO:1000478 {source="MONDO:equivalentTo"} -xref: ICD10CM:D35.2 {source="ORDO:99408/ntbt", source="Orphanet:99408", source="MONDO:directSiblingOf"} +xref: ICD10CM:D35.2 {source="Orphanet:99408", source="Orphanet:99408/ntbt", source="MONDO:directSiblingOf"} xref: ICDO:8272/0 {source="NCIT:C3329"} -xref: MedDRA:10035079 {source="ORDO:99408/e", source="EFO:1000478", source="Orphanet:99408"} +xref: MedDRA:10035079 {source="EFO:1000478", source="Orphanet:99408", source="Orphanet:99408/e"} xref: MESH:D010911 {source="DOID:3829"} xref: NCIT:C3329 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"} xref: ONCOTREE:PTAD {source="MONDO:equivalentTo"} @@ -111348,7 +111322,7 @@ xref: SCTID:189178001 {source="DOID:3829"} xref: SCTID:254956000 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"} xref: SCTID:269643009 {source="DOID:3829"} xref: SCTID:367095008 {source="DOID:3829"} -xref: UMLS:C0032000 {source="ORDO:99408/e", source="MONDO:equivalentTo", source="Orphanet:99408", source="DOID:3829", source="NCIT:C3329"} +xref: UMLS:C0032000 {source="MONDO:equivalentTo", source="Orphanet:99408", source="DOID:3829", source="NCIT:C3329", source="Orphanet:99408/e"} is_a: MONDO:0003381 {source="DOID:3829", source="MONDO:Redundant", source="NCIT:C3329/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disorder is_a: MONDO:0004972 {source="DOID:3829", source="EFO:1000478", source="MONDO:Redundant", source="NCIT:C3329", source="linkedlifedata"} ! adenoma is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C3329/inferred", source="Orphanet:99408", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pituitary tumor @@ -111501,7 +111475,7 @@ subset: ordo_disease {source="Orphanet:178544"} synonym: "PCDLBCL,LT" EXACT [Orphanet:178544] synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [MONDO:0015815] xref: EFO:1000490 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.3 {source="Orphanet:178544", source="ORDO:178544/ntbt"} +xref: ICD10CM:C83.3 {source="Orphanet:178544/ntbt", source="Orphanet:178544"} xref: ICDO:9680/3 {source="NCIT:C45194"} xref: NCIT:C45194 {source="MONDO:equivalentTo", source="exact-label-match", source="EFO:1000490"} xref: Orphanet:178544 {source="MONDO:equivalentTo"} @@ -112491,10 +112465,10 @@ synonym: "testicular non-dysgerminomatous germ cell tumor" EXACT [Orphanet:36349 synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313] xref: DOID:4086 {source="MONDO:equivalentTo"} xref: EFO:1000570 {source="MONDO:equivalentTo"} -xref: ICD10CM:C62.1 {source="Orphanet:363494", source="ORDO:363494/ntbt"} +xref: ICD10CM:C62.1 {source="Orphanet:363494", source="Orphanet:363494/ntbt"} xref: ICDO:9065/3 {source="NCIT:C9313"} xref: NCIT:C9313 {source="EFO:1000570", source="MONDO:equivalentTo"} -xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:363494", source="ORDO:363494/ntbt"} +xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:363494", source="Orphanet:363494/ntbt"} xref: Orphanet:363494 {source="MONDO:equivalentTo"} xref: UMLS:C1336724 {source="NCIT:C9313", source="MONDO:equivalentTo", source="DOID:4086"} xref: UMLS:CN204702 {source="MONDO:equivalentTo"} @@ -112558,9 +112532,9 @@ xref: DOID:3284 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:4554 {source="MONDO:equivalentTo"} xref: EFO:1000576 {source="MONDO:equivalentTo"} xref: GARD:0011952 {source="MONDO:equivalentTo"} -xref: ICD10CM:C37 {source="Orphanet:99868", source="ORDO:99868/ntbt"} +xref: ICD10CM:C37 {source="Orphanet:99868", source="Orphanet:99868/ntbt"} xref: ICDO:8586/3 {source="NCIT:C7569"} -xref: MedDRA:10061031 {source="ORDO:99868/e", source="Orphanet:99868"} +xref: MedDRA:10061031 {source="Orphanet:99868", source="Orphanet:99868/e"} xref: MESH:D013945 {source="DOID:3284"} xref: NCIT:C7569 {source="DOID:4554", source="MONDO:equivalentTo", source="EFO:1000576"} xref: NCIT:C7612 {source="DOID:3284"} @@ -112570,8 +112544,8 @@ xref: SCTID:128717008 {source="DOID:4554", source="DOID:3284"} xref: SCTID:15949004 {source="DOID:3284"} xref: SCTID:444374006 {source="DOID:4554", source="MONDO:equivalentTo"} xref: SCTID:444596001 {source="DOID:3284"} -xref: UMLS:C0205969 {source="ORDO:99868/e", source="MONDO:equivalentTo", source="Orphanet:99868", source="NCIT:C7569", source="DOID:3284"} -xref: UMLS:C1322286 {source="DOID:4554", source="ORDO:99868/e", source="MONDO:equivalentTo", source="Orphanet:99868"} +xref: UMLS:C0205969 {source="MONDO:equivalentTo", source="Orphanet:99868", source="NCIT:C7569", source="Orphanet:99868/e", source="DOID:3284"} +xref: UMLS:C1322286 {source="DOID:4554", source="MONDO:equivalentTo", source="Orphanet:99868", source="Orphanet:99868/e"} xref: UMLS:CN207411 {source="MONDO:equivalentTo"} is_a: MONDO:0002586 {source="DOID:3284", source="DOID:4554/inferred", source="MONDO:Redundant", source="NCIT:C7569"} ! thymus cancer is_a: MONDO:0004993 {source="EFO:1000576", source="MONDO:Redundant"} ! carcinoma @@ -112642,20 +112616,20 @@ synonym: "thymoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3275 {source="EFO:1000581", source="MONDO:equivalentTo"} xref: EFO:1000581 {source="MONDO:equivalentTo"} xref: HP:0100522 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:99867", source="ORDO:99867/ntbt"} -xref: ICD10CM:D38.4 {source="Orphanet:99867", source="ORDO:99867/btnt"} +xref: ICD10CM:D15.0 {source="Orphanet:99867/ntbt", source="MONDO:relatedTo", source="Orphanet:99867"} +xref: ICD10CM:D38.4 {source="Orphanet:99867/btnt", source="Orphanet:99867"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8580/1 {source="NCIT:C3411"} -xref: MedDRA:10043670 {source="ORDO:99867/e", source="Orphanet:99867"} -xref: MESH:D013945 {source="DOID:3275", source="ORDO:99867/e", source="Orphanet:99867"} +xref: MedDRA:10043670 {source="Orphanet:99867", source="Orphanet:99867/e"} +xref: MESH:D013945 {source="DOID:3275", source="Orphanet:99867", source="Orphanet:99867/e"} xref: NCIT:C3411 {source="DOID:3275", source="EFO:1000581", source="MONDO:equivalentTo"} -xref: OMIM:274230 {source="Orphanet:99867", source="MONDO:superClassOf", source="ORDO:99867/btnt"} +xref: OMIM:274230 {source="Orphanet:99867/btnt", source="Orphanet:99867", source="MONDO:superClassOf"} xref: ONCOTREE:THYM {source="MONDO:equivalentTo"} xref: Orphanet:99867 {source="MONDO:equivalentTo"} xref: SCTID:128856005 {source="DOID:3275"} xref: SCTID:189721001 {source="DOID:3275"} xref: SCTID:444231005 {source="DOID:3275", source="MONDO:equivalentTo"} -xref: UMLS:C0040100 {source="DOID:3275", source="ORDO:99867/e", source="Orphanet:99867", source="MONDO:equivalentTo", source="NCIT:C3411"} +xref: UMLS:C0040100 {source="DOID:3275", source="Orphanet:99867", source="MONDO:equivalentTo", source="NCIT:C3411", source="Orphanet:99867/e"} is_a: MONDO:0018079 {source="NCIT:C3411", source="ONCOTREE:THYM", source="Orphanet:99867"} ! thymic epithelial neoplasm property_value: IAO:0000589 "thymoma (disease)" xsd:string @@ -112857,15 +112831,15 @@ xref: DOID:0080522 {source="MONDO:equivalentTo"} xref: EFO:1000595 {source="MONDO:equivalentTo"} xref: GARD:0000664 {source="MONDO:equivalentTo"} xref: HP:0011779 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C73 {source="ORDO:142/ntbt", source="Orphanet:142"} -xref: MedDRA:10002240 {source="ORDO:142/e", source="Orphanet:142"} -xref: MESH:C536910 {source="ORDO:142/e", source="Orphanet:142"} +xref: ICD10CM:C73 {source="Orphanet:142", source="Orphanet:142/ntbt"} +xref: MedDRA:10002240 {source="Orphanet:142/e", source="Orphanet:142"} +xref: MESH:C536910 {source="Orphanet:142/e", source="Orphanet:142"} xref: MESH:D065646 {source="MONDO:equivalentTo"} xref: NCIT:C3878 {source="DesignPattern", source="EFO:1000595", source="MONDO:equivalentTo"} xref: ONCOTREE:THAP {source="MONDO:equivalentTo"} xref: Orphanet:142 {source="MONDO:equivalentTo"} xref: SCTID:255031003 {source="MONDO:equivalentTo"} -xref: UMLS:C0238461 {source="GARD:0000664", source="MONDO:equivalentTo", source="ORDO:142/e", source="Orphanet:142", source="NCIT:C3878"} +xref: UMLS:C0238461 {source="Orphanet:142/e", source="GARD:0000664", source="MONDO:equivalentTo", source="Orphanet:142", source="NCIT:C3878"} is_a: MONDO:0005232 {source="NCIT:C3878"} ! large cell carcinoma is_a: MONDO:0005617 {source="EFO:1000595", source="MONDO:Redundant", source="NCIT:C3878"} ! undifferentiated carcinoma is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C3878", source="Orphanet:142", source="linkedlifedata"} ! thyroid gland carcinoma @@ -113191,17 +113165,17 @@ synonym: "uveal melanoma" EXACT [MONDO:0018313] xref: DOID:6039 {source="MONDO:equivalentTo"} xref: EFO:1000616 {source="MONDO:equivalentTo"} xref: GARD:0008621 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C69.3 {source="Orphanet:39044", source="ORDO:39044/ntbt"} -xref: MedDRA:10061252 {source="ORDO:39044/e", source="Orphanet:39044"} -xref: MESH:C536494 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044"} +xref: ICD10CM:C69.3 {source="Orphanet:39044", source="Orphanet:39044/ntbt"} +xref: MedDRA:10061252 {source="Orphanet:39044", source="Orphanet:39044/e"} +xref: MESH:C536494 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"} xref: NCIT:C7712 {source="DOID:6039", source="MONDO:equivalentTo", source="EFO:1000616"} -xref: OMIM:155720 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044"} -xref: OMIM:606660 {source="DOID:6039", source="MONDO:superClassOf", source="Orphanet:39044", source="ORDO:39044/btnt"} -xref: OMIM:606661 {source="DOID:6039", source="MONDO:superClassOf", source="Orphanet:39044", source="ORDO:39044/btnt"} +xref: OMIM:155720 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"} +xref: OMIM:606660 {source="DOID:6039", source="MONDO:superClassOf", source="Orphanet:39044", source="Orphanet:39044/btnt"} +xref: OMIM:606661 {source="DOID:6039", source="MONDO:superClassOf", source="Orphanet:39044", source="Orphanet:39044/btnt"} xref: ONCOTREE:UM {source="MONDO:equivalentTo"} xref: Orphanet:39044 {source="DOID:6039", source="MONDO:equivalentTo"} -xref: UMLS:C0220633 {source="DOID:6039", source="ORDO:39044/e", source="MONDO:equivalentTo", source="Orphanet:39044", source="NCIT:C7712"} -xref: UMLS:C0346373 {source="ORDO:39044/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:39044"} +xref: UMLS:C0220633 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="NCIT:C7712", source="Orphanet:39044/e"} +xref: UMLS:C0346373 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:39044", source="Orphanet:39044/e"} xref: UMLS:C0346388 {source="MONDO:superClassOf", source="Orphanet:39044"} is_a: MONDO:0002659 {source="DOID:6039", source="MONDO:Redundant", source="NCIT:C7712"} ! uveal cancer is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C7712", source="ONCOTREE:UM"} ! ocular melanoma @@ -113494,7 +113468,7 @@ synonym: "shock lung" EXACT [DOID:11394, GARD:0005698] synonym: "Stiff lung" RELATED [GARD:0005698] xref: EFO:1000637 {source="MONDO:equivalentTo"} xref: GARD:0005698 {source="MONDO:equivalentTo"} -xref: ICD10CM:J80 {source="MONDO:equivalentTo", source="ORDO:70578/e", source="DOID:11394", source="Orphanet:70578"} +xref: ICD10CM:J80 {source="MONDO:equivalentTo", source="DOID:11394", source="Orphanet:70578", source="Orphanet:70578/e"} xref: MedDRA:10001052 {source="EFO:1000637"} xref: NCIT:C3353 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"} xref: SCTID:155627006 {source="DOID:11394"} @@ -114190,7 +114164,7 @@ synonym: "epidermolysis bullosa, dermolytic" RELATED [GARD:0002150] xref: DOID:4959 {source="EFO:1000692", source="MONDO:equivalentTo"} xref: EFO:1000692 {source="MONDO:equivalentTo"} xref: GARD:0002150 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q81.2 {source="Orphanet:303", source="ORDO:303/specific", source="DOID:4959", source="ORDO:303/e"} +xref: ICD10CM:Q81.2 {source="Orphanet:303", source="Orphanet:303/e", source="Orphanet:303/specific", source="DOID:4959"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D016108 {source="MONDO:equivalentTo", source="DOID:4959"} xref: NCIT:C84691 {source="MONDO:equivalentTo", source="DOID:4959"} @@ -114518,12 +114492,12 @@ xref: DOID:0040098 {source="MONDO:equivalentTo"} xref: DOID:14482 {source="EFO:1000709", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:1000709 {source="MONDO:equivalentTo"} xref: GARD:0006497 {source="MONDO:equivalentTo"} -xref: ICD10CM:L12.8 {source="ORDO:63275/ntbt", source="Orphanet:63275"} +xref: ICD10CM:L12.8 {source="Orphanet:63275/ntbt", source="Orphanet:63275"} xref: ICD10CM:O26.4 {source="DOID:14482", source="DOID:0040098"} xref: ICD10CM:O26.40 {source="DOID:14482"} xref: ICD9:646.80 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10019939 {source="ORDO:63275/e", source="Orphanet:63275"} -xref: MESH:D006559 {source="MONDO:equivalentTo", source="DOID:14482", source="ORDO:63275/e", source="Orphanet:63275", source="DOID:0040098"} +xref: MedDRA:10019939 {source="Orphanet:63275/e", source="Orphanet:63275"} +xref: MESH:D006559 {source="Orphanet:63275/e", source="MONDO:equivalentTo", source="DOID:14482", source="Orphanet:63275", source="DOID:0040098"} xref: NCIT:C85003 {source="MONDO:equivalentTo", source="DOID:14482"} xref: Orphanet:63275 {source="MONDO:equivalentTo"} xref: SCTID:156129002 {source="DOID:14482"} @@ -114531,7 +114505,7 @@ xref: SCTID:199126002 {source="DOID:14482"} xref: SCTID:199131000 {source="DOID:14482"} xref: SCTID:270959002 {source="DOID:14482"} xref: SCTID:86081009 {source="MONDO:equivalentTo", source="DOID:14482", source="DOID:0040098"} -xref: UMLS:C0019343 {source="MONDO:equivalentTo", source="DOID:14482", source="NCIT:C85003", source="ORDO:63275/e", source="Orphanet:63275"} +xref: UMLS:C0019343 {source="Orphanet:63275/e", source="MONDO:equivalentTo", source="DOID:14482", source="NCIT:C85003", source="Orphanet:63275"} xref: Wikipedia:Gestational_pemphigoid {source="EFO:1000709"} is_a: MONDO:0006594 {source="MONDO:cjm"} ! pemphigus is_a: MONDO:0006617 {source="DOID:14482", source="EFO:1000709", source="MESH:D006559", source="indirect"} ! vesiculobullous skin disease @@ -115339,11 +115313,11 @@ xref: DOID:3805 {source="MONDO:equivalentTo", source="EFO:1000757"} xref: EFO:1000757 {source="MONDO:equivalentTo"} xref: HP:0200044 {source="MONDO:otherHierarchy"} xref: ICD10CM:L56.5 {source="DOID:3805"} -xref: ICD10CM:Q82.8 {source="Orphanet:79358", source="ORDO:79358/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:79358", source="Orphanet:79358/ntbt"} xref: ICD9:692.75 {source="MONDO:superClassOf", source="DOID:3805"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036175 {source="Orphanet:79358", source="ORDO:79358/e"} -xref: MESH:D017499 {source="Orphanet:79358", source="DOID:3805", source="ORDO:79358/e"} +xref: MedDRA:10036175 {source="Orphanet:79358", source="Orphanet:79358/e"} +xref: MESH:D017499 {source="Orphanet:79358", source="Orphanet:79358/e", source="DOID:3805"} xref: NCIT:C85019 {source="MONDO:equivalentTo", source="DOID:3805"} xref: OMIM:175800 {source="MONDO:superClassOf", source="DOID:3805"} xref: OMIMPS:175800 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -115353,7 +115327,7 @@ xref: SCTID:238630009 {source="DOID:3805"} xref: SCTID:400080004 {source="MONDO:equivalentTo", source="DOID:3805"} xref: SCTID:41495000 {source="MONDO:superClassOf", source="DOID:3805"} xref: SCTID:80432009 {source="MONDO:superClassOf", source="DOID:3805"} -xref: UMLS:C0162839 {source="NCIT:C85019", source="Orphanet:79358", source="MONDO:equivalentTo", source="DOID:3805", source="ORDO:79358/e"} +xref: UMLS:C0162839 {source="NCIT:C85019", source="Orphanet:79358", source="MONDO:equivalentTo", source="Orphanet:79358/e", source="DOID:3805"} xref: UMLS:C0265970 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3805"} xref: Wikipedia:Porokeratosis {source="EFO:1000757"} is_a: MONDO:0006566 {source="DOID:3805", source="EFO:1000757"} ! keratosis @@ -115430,7 +115404,7 @@ synonym: "scleredemas" EXACT [MESH:D012592] xref: DOID:3140 {source="EFO:1000762", source="MONDO:equivalentTo"} xref: EFO:1000762 {source="MONDO:equivalentTo"} xref: GARD:0005975 {source="MONDO:equivalentTo"} -xref: ICD10CM:M34.8 {source="ORDO:352763/ntbt", source="Orphanet:352763"} +xref: ICD10CM:M34.8 {source="Orphanet:352763", source="Orphanet:352763/ntbt"} xref: MESH:D012592 {source="MONDO:equivalentTo", source="DOID:3140"} xref: NCIT:C85057 {source="MONDO:equivalentTo", source="DOID:3140"} xref: Orphanet:352763 {source="MONDO:equivalentTo"} @@ -115618,13 +115592,13 @@ synonym: "subcorneal pustular dermatitis" EXACT [Orphanet:48377] synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, ICD9CM:694.1] xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"} xref: EFO:1000771 {source="MONDO:equivalentTo"} -xref: ICD10CM:L13.1 {source="DOID:8508", source="ORDO:48377/e", source="Orphanet:48377"} +xref: ICD10CM:L13.1 {source="Orphanet:48377/e", source="DOID:8508", source="Orphanet:48377"} xref: ICD9:694.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:8508"} -xref: MedDRA:10042342 {source="ORDO:48377/e", source="Orphanet:48377"} +xref: MedDRA:10042342 {source="Orphanet:48377/e", source="Orphanet:48377"} xref: MESH:D012872 {source="MONDO:relatedTo", source="DOID:8508"} xref: Orphanet:48377 {source="MONDO:equivalentTo"} xref: SCTID:25147002 {source="MONDO:equivalentTo", source="DOID:8508"} -xref: UMLS:C0600336 {source="MONDO:equivalentTo", source="DOID:8508", source="ORDO:48377/e", source="Orphanet:48377"} +xref: UMLS:C0600336 {source="Orphanet:48377/e", source="MONDO:equivalentTo", source="DOID:8508", source="Orphanet:48377"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0019337 {source="DOID:8508", source="EFO:1000771", source="linkedlifedata"} ! autoimmune bullous skin disease @@ -116031,15 +116005,15 @@ xref: DOID:660 {source="MONDO:equivalentTo", source="EFO:1000796"} xref: EFO:1000796 {source="MONDO:equivalentTo"} xref: GARD:0000558 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0006744 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C74.0 {source="Orphanet:1501", source="ORDO:1501/e", source="DOID:660"} +xref: ICD10CM:C74.0 {source="Orphanet:1501", source="DOID:660", source="Orphanet:1501/e"} xref: ICDO:8370/3 {source="NCIT:C9325"} -xref: MedDRA:10001388 {source="Orphanet:1501", source="ORDO:1501/e"} +xref: MedDRA:10001388 {source="Orphanet:1501", source="Orphanet:1501/e"} xref: MESH:D000306 {source="EFO:1000796", source="DOID:660"} -xref: MESH:D018268 {source="Orphanet:1501", source="ORDO:1501/e", source="EFO:0003093", source="DOID:3948"} +xref: MESH:D018268 {source="Orphanet:1501", source="EFO:0003093", source="DOID:3948", source="Orphanet:1501/e"} xref: NCIT:C2858 {source="MONDO:relatedTo", source="DOID:660"} xref: NCIT:C9325 {source="MONDO:equivalentTo", source="EFO:1000796", source="EFO:0003093", source="DOID:3948"} xref: NCIT:C9327 {source="MONDO:subClassOf", source="DOID:660"} -xref: OMIM:202300 {source="ORDO:1501/btnt", source="Orphanet:1501", source="MONDO:superClassOf", source="EFO:0003093", source="DOID:3948"} +xref: OMIM:202300 {source="Orphanet:1501", source="MONDO:superClassOf", source="EFO:0003093", source="DOID:3948", source="Orphanet:1501/btnt"} xref: ONCOTREE:ACC {source="MONDO:equivalentTo"} xref: Orphanet:1501 {source="MONDO:equivalentTo"} xref: SCTID:127022002 {source="DOID:660"} @@ -116052,7 +116026,7 @@ xref: SCTID:363479004 {source="DOID:660"} xref: SCTID:371964008 {source="MONDO:subClassOf", source="DOID:660"} xref: SCTID:93664009 {source="DOID:660"} xref: UMLS:C0001618 {source="MONDO:notFoundInDiseaseSubset", source="DOID:660"} -xref: UMLS:C0206686 {source="NCIT:C9325", source="MONDO:equivalentTo", source="Orphanet:1501", source="ORDO:1501/e", source="DOID:3948"} +xref: UMLS:C0206686 {source="NCIT:C9325", source="MONDO:equivalentTo", source="Orphanet:1501", source="DOID:3948", source="Orphanet:1501/e"} xref: UMLS:C0346402 {source="MONDO:notFoundInDiseaseSubset", source="DOID:660"} is_a: MONDO:0004970 {source="DOID:3959", source="MONDO:Redundant", source="NCIT:C9325", source="linkedlifedata"} ! adenocarcinoma is_a: MONDO:0005240 {source="MONDO:0019748-obsoleted"} ! kidney disorder @@ -116307,12 +116281,12 @@ xref: DOID:1407 {source="MONDO:equivalentTo", source="EFO:1000811"} xref: EFO:1000811 {source="MONDO:equivalentTo"} xref: GARD:0010941 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0012122 {source="MONDO:otherHierarchy"} -xref: ICD10CM:H20.0 {source="ORDO:280886/btnt", source="Orphanet:280886"} -xref: ICD10CM:H20.1 {source="ORDO:280886/btnt", source="Orphanet:280886"} -xref: ICD10CM:H20.2 {source="ORDO:280886/btnt", source="Orphanet:280886"} -xref: ICD10CM:H20.8 {source="ORDO:280886/btnt", source="Orphanet:280886"} -xref: ICD10CM:H20.9 {source="ORDO:280886/btnt", source="Orphanet:280886"} -xref: MedDRA:10002709 {source="ORDO:280886/e", source="EFO:1000811", source="Orphanet:280886"} +xref: ICD10CM:H20.0 {source="Orphanet:280886/btnt", source="Orphanet:280886"} +xref: ICD10CM:H20.1 {source="Orphanet:280886/btnt", source="Orphanet:280886"} +xref: ICD10CM:H20.2 {source="Orphanet:280886/btnt", source="Orphanet:280886"} +xref: ICD10CM:H20.8 {source="Orphanet:280886/btnt", source="Orphanet:280886"} +xref: ICD10CM:H20.9 {source="Orphanet:280886/btnt", source="Orphanet:280886"} +xref: MedDRA:10002709 {source="Orphanet:280886/e", source="EFO:1000811", source="Orphanet:280886"} xref: MESH:D014606 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"} xref: NCIT:C35109 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811", source="NCIT:C35109"} xref: Orphanet:280886 {source="MONDO:equivalentTo"} @@ -116321,7 +116295,7 @@ xref: SCTID:231946008 {source="DOID:1407"} xref: SCTID:410692006 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"} xref: SCTID:77971008 {source="MONDO:superClassOf", source="DOID:1407"} xref: UMLS:C0022073 {source="MONDO:superClassOf", source="Orphanet:280886"} -xref: UMLS:C0042165 {source="MONDO:equivalentTo", source="DOID:1407", source="ORDO:280886/e", source="NCIT:C35109", source="Orphanet:280886"} +xref: UMLS:C0042165 {source="Orphanet:280886/e", source="MONDO:equivalentTo", source="DOID:1407", source="NCIT:C35109", source="Orphanet:280886"} is_a: MONDO:0020283 {source="DOID:1407/inferred", source="NCIT:C35109", source="Orphanet:280886", source="linkedlifedata"} ! uveitis property_value: IAO:0000589 "anterior uveitis (disease)" xsd:string @@ -116583,20 +116557,20 @@ synonym: "interauricular communication" EXACT [Orphanet:1478] synonym: "interauricular septal defect" EXACT [DOID:1882] xref: DOID:1882 {source="MONDO:equivalentTo", source="EFO:1000825"} xref: EFO:1000825 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.1 {source="ORDO:1478/specific", source="ORDO:1478/e", source="DOID:1882", source="Orphanet:1478"} -xref: MedDRA:10003664 {source="ORDO:1478/e", source="Orphanet:1478"} +xref: ICD10CM:Q21.1 {source="DOID:1882", source="Orphanet:1478", source="Orphanet:1478/specific", source="Orphanet:1478/e"} +xref: MedDRA:10003664 {source="Orphanet:1478", source="Orphanet:1478/e"} xref: MedDRA:10019308 {source="EFO:1000825"} -xref: MedDRA:10068864 {source="ORDO:1478/e", source="Orphanet:1478"} -xref: MESH:D006344 {source="ORDO:1478/e", source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="EFO:1000825"} +xref: MedDRA:10068864 {source="Orphanet:1478", source="Orphanet:1478/e"} +xref: MESH:D006344 {source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="Orphanet:1478/e", source="EFO:1000825"} xref: NCIT:C84473 {source="DOID:1882", source="MONDO:equivalentTo", source="EFO:1000825"} -xref: OMIM:108800 {source="ORDO:1478/e", source="MONDO:superClassOf", source="Orphanet:1478"} -xref: OMIM:607941 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} -xref: OMIM:611363 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} -xref: OMIM:612794 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} -xref: OMIM:613087 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} -xref: OMIM:614089 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} -xref: OMIM:614433 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} -xref: OMIM:614475 {source="MONDO:superClassOf", source="ORDO:1478/btnt", source="Orphanet:1478"} +xref: OMIM:108800 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/e"} +xref: OMIM:607941 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} +xref: OMIM:611363 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} +xref: OMIM:612794 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} +xref: OMIM:613087 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} +xref: OMIM:614089 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} +xref: OMIM:614433 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} +xref: OMIM:614475 {source="MONDO:superClassOf", source="Orphanet:1478", source="Orphanet:1478/btnt"} xref: OMIMPS:108800 {source="DOID:1882", source="MONDO:equivalentTo"} xref: Orphanet:1478 {source="DOID:1882", source="MONDO:equivalentTo"} xref: SCTID:156915002 {source="DOID:1882"} @@ -116607,8 +116581,8 @@ xref: SCTID:268178001 {source="DOID:1882"} xref: SCTID:405752007 {source="DOID:1882", source="EFO:1000825"} xref: SCTID:69524004 {source="DOID:1882"} xref: SCTID:70142008 {source="DOID:1882"} -xref: UMLS:C0018817 {source="ORDO:1478/e", source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="NCIT:C84473"} -xref: UMLS:C2609256 {source="ORDO:1478/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1478"} +xref: UMLS:C0018817 {source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="NCIT:C84473", source="Orphanet:1478/e"} +xref: UMLS:C2609256 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1478", source="Orphanet:1478/e"} is_a: MONDO:0002078 {source="DOID:1882", source="MESH:D006344", source="linkedlifedata/inferred"} ! heart septal defect is_a: MONDO:0017131 {source="Orphanet:1478"} ! genetic cardiac anomaly is_a: MONDO:0020294 {source="Orphanet:1478"} ! atrial defect and interatrial communication @@ -117075,7 +117049,7 @@ synonym: "Stomatopyrosis" EXACT [DOID:4331, Orphanet:353253] xref: DOID:4331 {source="EFO:1000850", source="MONDO:equivalentTo"} xref: EFO:1000850 {source="MONDO:equivalentTo"} xref: GARD:0005974 {source="MONDO:equivalentTo"} -xref: ICD10CM:K14.6 {source="Orphanet:353253", source="ORDO:353253/btnt"} +xref: ICD10CM:K14.6 {source="Orphanet:353253", source="Orphanet:353253/btnt"} xref: MedDRA:10068065 {source="EFO:1000850"} xref: MESH:D002054 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} xref: NCIT:C62545 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} @@ -118128,17 +118102,17 @@ synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226, NCIT:C8972] xref: DOID:4226 {source="EFO:1000919", source="MONDO:equivalentTo"} xref: EFO:1000919 {source="MONDO:equivalentTo"} xref: GARD:0006339 {source="MONDO:equivalentTo"} -xref: ICD10CM:C54.1 {source="Orphanet:213711", source="ORDO:213711/ntbt"} +xref: ICD10CM:C54.1 {source="Orphanet:213711/ntbt", source="Orphanet:213711"} xref: ICDO:8930/3 {source="NCIT:C8973"} xref: MedDRA:10048397 {source="EFO:1000919"} -xref: MedDRA:10057649 {source="Orphanet:213711", source="ORDO:213711/e"} -xref: MESH:D018203 {source="DOID:4226", source="EFO:1000919", source="Orphanet:213711", source="ORDO:213711/e", source="MONDO:equivalentTo"} +xref: MedDRA:10057649 {source="Orphanet:213711", source="Orphanet:213711/e"} +xref: MESH:D018203 {source="DOID:4226", source="EFO:1000919", source="Orphanet:213711", source="MONDO:equivalentTo", source="Orphanet:213711/e"} xref: NCIT:C8973 {source="DOID:4226", source="MONDO:equivalentTo"} xref: ONCOTREE:ESS {source="MONDO:equivalentTo"} xref: Orphanet:213711 {source="MONDO:equivalentTo"} xref: SCTID:699356008 {source="DOID:4226", source="EFO:1000919", source="MONDO:equivalentTo"} xref: SCTID:70555003 {source="DOID:4226"} -xref: UMLS:C0206630 {source="DOID:4226", source="NCIT:C8973", source="Orphanet:213711", source="ORDO:213711/e", source="MONDO:equivalentTo"} +xref: UMLS:C0206630 {source="DOID:4226", source="NCIT:C8973", source="Orphanet:213711", source="MONDO:equivalentTo", source="Orphanet:213711/e"} xref: UMLS:C2239246 {source="MONDO:equivalentTo"} is_a: MONDO:0001416 {source="DOID:4226/inferred", source="MONDO:Redundant", source="NCIT:C8973", source="indirect", source="linkedlifedata/inferred"} ! female reproductive organ cancer is_a: MONDO:0003311 {source="DOID:4226", source="MESH:D018203", source="linkedlifedata"} ! endometrial stromal tumor @@ -119216,8 +119190,8 @@ synonym: "peripheral uveoretinitis" EXACT [DOID:12732] xref: DOID:12732 {source="MONDO:equivalentTo", source="EFO:1000986"} xref: EFO:1000986 {source="MONDO:equivalentTo"} xref: HP:0012124 {source="MONDO:otherHierarchy"} -xref: ICD10CM:H30.2 {source="ORDO:279914/ntbt", source="Orphanet:279914"} -xref: MedDRA:10022557 {source="ORDO:279914/e", source="EFO:1000986", source="Orphanet:279914"} +xref: ICD10CM:H30.2 {source="Orphanet:279914/ntbt", source="Orphanet:279914"} +xref: MedDRA:10022557 {source="Orphanet:279914/e", source="EFO:1000986", source="Orphanet:279914"} xref: MESH:D015867 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"} xref: NCIT:C35110 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"} xref: Orphanet:279914 {source="MONDO:equivalentTo"} @@ -119226,7 +119200,7 @@ xref: SCTID:193491003 {source="DOID:12732"} xref: SCTID:308126005 {source="DOID:12732"} xref: SCTID:314429009 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"} xref: SCTID:398322000 {source="DOID:12732"} -xref: UMLS:C0042166 {source="DOID:12732", source="NCIT:C35110", source="MONDO:equivalentTo", source="ORDO:279914/e", source="Orphanet:279914"} +xref: UMLS:C0042166 {source="DOID:12732", source="Orphanet:279914/e", source="NCIT:C35110", source="MONDO:equivalentTo", source="Orphanet:279914"} is_a: MONDO:0020283 {source="DOID:12732", source="EFO:1000986", source="MESH:D015867", source="NCIT:C35110", source="Orphanet:279914", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveitis property_value: IAO:0000589 "intermediate uveitis (disease)" xsd:string @@ -119418,8 +119392,7 @@ synonym: "skeletal joint disease" EXACT [MONDO:patterns/location] synonym: "skeletal joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:381 {source="MONDO:equivalentTo", source="EFO:1000999"} xref: EFO:1000999 {source="MONDO:equivalentTo"} -xref: ICD10CM:M00-M02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:M00-M02 {source="DOID:381"} +xref: ICD10CM:M00-M02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:381", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M05-M14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M12.9 {source="DOID:381"} xref: ICD10CM:M15-M19 {source="MONDO:superClassOf"} @@ -119614,12 +119587,12 @@ synonym: "kuru encephalopathy" EXACT [DOID:648] xref: DOID:648 {source="MONDO:equivalentTo", source="EFO:1001008"} xref: EFO:1001008 {source="MONDO:equivalentTo"} xref: GARD:0007617 {source="MONDO:equivalentTo"} -xref: ICD10CM:A81.8 {source="ORDO:454745/ntbt", source="Orphanet:454745"} +xref: ICD10CM:A81.8 {source="Orphanet:454745", source="Orphanet:454745/ntbt"} xref: ICD10CM:A81.81 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} xref: ICD9:046.0 {source="DOID:648", source="MONDO:equivalentTo", source="i2s", source="EFO:1001008"} xref: MedDRA:10023497 {source="EFO:1001008"} xref: MESH:D007729 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} -xref: OMIM:245300 {source="ORDO:454745/btnt", source="Orphanet:454745", source="MONDO:superClassOf"} +xref: OMIM:245300 {source="Orphanet:454745", source="MONDO:superClassOf", source="Orphanet:454745/btnt"} xref: Orphanet:454745 {source="MONDO:equivalentTo"} xref: SCTID:192684001 {source="DOID:648"} xref: SCTID:86188000 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} @@ -120192,12 +120165,12 @@ synonym: "syndrome, meconium aspiration" RELATED [MESH:D008471] xref: DOID:11049 {source="EFO:1001037", source="MONDO:equivalentTo"} xref: EFO:1001037 {source="MONDO:equivalentTo"} xref: GARD:0010494 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:P24.0 {source="DOID:11049", source="ORDO:70588/e", source="EFO:1001037", source="Orphanet:70588"} +xref: ICD10CM:P24.0 {source="DOID:11049", source="EFO:1001037", source="Orphanet:70588", source="Orphanet:70588/e"} xref: ICD10CM:P24.00 {source="DOID:11049"} xref: ICD10CM:P24.01 {source="DOID:11049"} xref: ICD9:770.1 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10027057 {source="EFO:1001037"} -xref: MESH:D008471 {source="DOID:11049", source="ORDO:70588/e", source="EFO:1001037", source="MONDO:equivalentTo", source="Orphanet:70588"} +xref: MESH:D008471 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo", source="Orphanet:70588", source="Orphanet:70588/e"} xref: NCIT:C87093 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo"} xref: Orphanet:70588 {source="MONDO:equivalentTo"} xref: SCTID:14608006 {source="DOID:11049"} @@ -120205,7 +120178,7 @@ xref: SCTID:157110000 {source="DOID:11049"} xref: SCTID:206292002 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo"} xref: SCTID:278927005 {source="DOID:11049"} xref: SCTID:85779008 {source="DOID:11049"} -xref: UMLS:C0025048 {source="NCIT:C87093", source="DOID:11049", source="ORDO:70588/e", source="MONDO:equivalentTo", source="Orphanet:70588"} +xref: UMLS:C0025048 {source="NCIT:C87093", source="DOID:11049", source="MONDO:equivalentTo", source="Orphanet:70588", source="Orphanet:70588/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C87093", source="indirect"} ! syndromic disease is_a: MONDO:0005087 {source="Orphanet:70588"} ! respiratory system disorder is_a: MONDO:0005275 {source="DOID:11049", source="EFO:1001037", source="MESH:D008471/inferred", source="MONDO:Redundant", source="indirect"} ! lung disorder @@ -120357,12 +120330,12 @@ synonym: "sarcoma, myeloid, malignant" EXACT [NCIT:C3520] xref: DOID:8683 {source="EFO:1001052", source="MONDO:equivalentTo"} xref: EFO:1001052 {source="MONDO:equivalentTo"} xref: GARD:0012763 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="ORDO:86850/ntbt", source="DOID:8683"} +xref: ICD10CM:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="Orphanet:86850/ntbt", source="MONDO:equivalentTo", source="DOID:8683"} xref: ICD10CM:C92.30 {source="DOID:8683"} xref: ICD9:205.3 {source="EFO:1001052", source="DOID:8683"} xref: ICDO:9930/3 {source="NCIT:C3520"} xref: MedDRA:10028562 {source="EFO:1001052"} -xref: MESH:D023981 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683", source="ORDO:86850/e"} +xref: MESH:D023981 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="Orphanet:86850/e", source="DOID:8683"} xref: NCIT:C3520 {source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683"} xref: NCIT:C35815 {source="MONDO:superClassOf", source="DOID:8683"} xref: ONCOTREE:MS {source="MONDO:equivalentTo"} @@ -120580,7 +120553,6 @@ synonym: "malnutrition" EXACT [] xref: DOID:5113 {source="EFO:1001067", source="MONDO:equivalentTo"} xref: EFO:1001067 {source="MONDO:equivalentTo"} xref: ICD10CM:E40-E46 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:E40-E46 {source="MONDO:equivalentTo"} xref: ICD10CM:E50-E64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:269.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:269.9 {source="MONDO:equivalentTo", source="i2s"} @@ -121264,12 +121236,12 @@ xref: DOID:2702 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", xref: DOID:9898 {source="MONDO:equivalentTo"} xref: EFO:1001106 {source="MONDO:equivalentTo"} xref: GARD:0007396 {source="MONDO:equivalentTo"} -xref: ICD10CM:M12.2 {source="ORDO:66627/e", source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702"} +xref: ICD10CM:M12.2 {source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="Orphanet:66627/e"} xref: ICD10CM:M12.20 {source="DOID:9898"} xref: ICD9:719.2 {source="DOID:9898"} xref: ICD9:719.20 {source="DOID:9898", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:719.28 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D013586 {source="ORDO:66627/e", source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="EFO:1001106"} +xref: MESH:D013586 {source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="EFO:1001106", source="Orphanet:66627/e"} xref: NCIT:C3401 {source="MONDO:relatedTo", source="DOID:2702"} xref: Orphanet:66627 {source="MONDO:equivalentTo"} xref: SCTID:202423001 {source="DOID:9898"} @@ -121280,7 +121252,7 @@ xref: SCTID:703703002 {source="DOID:2702"} xref: SCTID:71508003 {source="DOID:2702"} xref: SCTID:95411002 {source="DOID:9898"} xref: SCTID:95412009 {source="MONDO:equivalentTo", source="DOID:2702", source="EFO:1001106"} -xref: UMLS:C0039106 {source="ORDO:66627/e", source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702"} +xref: UMLS:C0039106 {source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="Orphanet:66627/e"} xref: UMLS:C0158168 {source="DOID:9898", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002400 {source="DOID:2702", source="MESH:D013586"} ! synovitis is_a: MONDO:0005554 {source="Orphanet:66627"} ! rheumatic disorder @@ -121314,14 +121286,14 @@ subset: ordo_disease {source="Orphanet:95613"} synonym: "pituitary gland apoplexy" EXACT [NCIT:C26853] xref: DOID:1129 {source="MONDO:equivalentTo", source="EFO:1001108"} xref: EFO:1001108 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.6 {source="ORDO:95613/ntbt", source="Orphanet:95613"} +xref: ICD10CM:E23.6 {source="Orphanet:95613", source="Orphanet:95613/ntbt"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056447 {source="ORDO:95613/e", source="Orphanet:95613", source="EFO:1001108"} -xref: MESH:D010899 {source="ORDO:95613/e", source="MONDO:equivalentTo", source="Orphanet:95613", source="DOID:1129", source="EFO:1001108"} +xref: MedDRA:10056447 {source="Orphanet:95613", source="EFO:1001108", source="Orphanet:95613/e"} +xref: MESH:D010899 {source="MONDO:equivalentTo", source="Orphanet:95613", source="DOID:1129", source="EFO:1001108", source="Orphanet:95613/e"} xref: NCIT:C26853 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108"} xref: Orphanet:95613 {source="MONDO:equivalentTo"} xref: SCTID:237701005 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108"} -xref: UMLS:C0032001 {source="ORDO:95613/e", source="MONDO:equivalentTo", source="NCIT:C26853", source="Orphanet:95613", source="DOID:1129"} +xref: UMLS:C0032001 {source="MONDO:equivalentTo", source="NCIT:C26853", source="Orphanet:95613", source="DOID:1129", source="Orphanet:95613/e"} is_a: MONDO:0001259 {source="DOID:1129", source="linkedlifedata"} ! pituitary gland infarction is_a: MONDO:0019832 {source="Orphanet:95613"} ! acquired pituitary hormone deficiency @@ -121376,14 +121348,14 @@ synonym: "Streptococcus pneumoniae caused infectious meningitis" EXACT [MONDO:pa synonym: "Streptococcus pneumoniae infectious meningitis" EXACT [] xref: DOID:11575 {source="EFO:1001114", source="MONDO:obsolete"} xref: EFO:1001114 {source="MONDO:equivalentTo"} -xref: ICD10CM:G00.1 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="ORDO:55655/e"} +xref: ICD10CM:G00.1 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"} xref: ICD9:320.1 {source="EFO:1001114", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10027253 {source="Orphanet:55655", source="ORDO:55655/e"} +xref: MedDRA:10027253 {source="Orphanet:55655", source="Orphanet:55655/e"} xref: MedDRA:10035645 {source="EFO:1001114"} -xref: MESH:D008586 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="ORDO:55655/e"} +xref: MESH:D008586 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"} xref: Orphanet:55655 {source="MONDO:equivalentTo"} xref: SCTID:51169003 {source="EFO:1001114", source="MONDO:equivalentTo"} -xref: UMLS:C0025295 {source="Orphanet:55655", source="MONDO:equivalentTo", source="ORDO:55655/e"} +xref: UMLS:C0025295 {source="Orphanet:55655", source="MONDO:equivalentTo", source="Orphanet:55655/e"} is_a: MONDO:0005113 {source="MONDO:Redundant", source="Orphanet:55655", source="indirect"} ! bacterial infectious disease is_a: MONDO:0006670 {source="EFO:1001114", source="MESH:D008586", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:55655", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disorder of the nervous system @@ -121651,11 +121623,11 @@ synonym: "vitreoretinopathy, neovascular inflammatory, autosomal dominant" RELAT synonym: "VRNI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193235] xref: DOID:9719 {source="MONDO:equivalentTo", source="EFO:1001129"} xref: EFO:1001129 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.2 {source="ORDO:329211/attributed", source="ORDO:329211/ntbt", source="Orphanet:329211"} +xref: ICD10CM:H35.2 {source="Orphanet:329211/attributed", source="Orphanet:329211/ntbt", source="Orphanet:329211"} xref: ICD9:362.29 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10057896 {source="EFO:1001129"} xref: MESH:D018630 {source="MONDO:equivalentTo", source="DOID:9719", source="EFO:1001129"} -xref: OMIM:193235 {source="MONDO:equivalentTo", source="ORDO:329211/e", source="Orphanet:329211"} +xref: OMIM:193235 {source="Orphanet:329211/e", source="MONDO:equivalentTo", source="Orphanet:329211"} xref: Orphanet:329211 {source="OMIM:193235", source="MONDO:equivalentTo"} xref: SCTID:193364004 {source="DOID:9719"} xref: SCTID:232016005 {source="MONDO:equivalentTo", source="DOID:9719", source="EFO:1001129"} @@ -121895,16 +121867,16 @@ synonym: "Streptobacillosis" EXACT [NCIT:C34971] xref: DOID:12097 {source="EFO:1001144", source="MONDO:obsolete"} xref: EFO:1001144 {source="MONDO:equivalentTo"} xref: GARD:0009557 {source="MONDO:equivalentTo"} -xref: ICD10CM:A25.0 {source="Orphanet:31205", source="ORDO:31205/btnt"} -xref: ICD10CM:A25.1 {source="Orphanet:31205", source="ORDO:31205/btnt"} -xref: ICD10CM:A25.9 {source="Orphanet:31205", source="ORDO:31205/btnt"} +xref: ICD10CM:A25.0 {source="Orphanet:31205/btnt", source="Orphanet:31205"} +xref: ICD10CM:A25.1 {source="Orphanet:31205/btnt", source="Orphanet:31205"} +xref: ICD10CM:A25.9 {source="Orphanet:31205/btnt", source="Orphanet:31205"} xref: ICD9:026.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10037904 {source="ORDO:31205/e", source="Orphanet:31205"} -xref: MESH:D011906 {source="ORDO:31205/e", source="Orphanet:31205", source="EFO:1001144", source="MONDO:equivalentTo"} +xref: MedDRA:10037904 {source="Orphanet:31205", source="Orphanet:31205/e"} +xref: MESH:D011906 {source="Orphanet:31205", source="EFO:1001144", source="MONDO:equivalentTo", source="Orphanet:31205/e"} xref: NCIT:C34971 {source="MONDO:equivalentTo"} xref: Orphanet:31205 {source="MONDO:equivalentTo"} xref: SCTID:1685005 {source="EFO:1001144", source="MONDO:equivalentTo"} -xref: UMLS:C0034686 {source="ORDO:31205/e", source="Orphanet:31205", source="MONDO:equivalentTo", source="NCIT:C34971"} +xref: UMLS:C0034686 {source="Orphanet:31205", source="MONDO:equivalentTo", source="NCIT:C34971", source="Orphanet:31205/e"} is_a: MONDO:0005113 {source="EFO:1001144", source="MESH:D011906/inferred", source="MONDO:Redundant", source="NCIT:C34971/inferred", source="Orphanet:31205", source="linkedlifedata"} ! bacterial infectious disease intersection_of: MONDO:0005113 ! bacterial infectious disease intersection_of: transmitted_by NCBITaxon:10114 ! Rattus @@ -122067,20 +122039,20 @@ synonym: "Terry syndrome" EXACT [NCIT:C34982] xref: DOID:13025 {source="EFO:1001158", source="MONDO:equivalentTo"} xref: EFO:1001158 {source="MONDO:equivalentTo"} xref: GARD:0005695 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:H35.1 {source="Orphanet:90050", source="EFO:1001158", source="ORDO:90050/e", source="DOID:13025"} +xref: ICD10CM:H35.1 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e", source="DOID:13025"} xref: ICD10CM:H35.10 {source="DOID:13025"} xref: ICD10CM:H35.17 {source="DOID:13025"} xref: ICD9:362.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:13025"} xref: ICD9:362.21 {source="MONDO:equivalentTo", source="i2s", source="DOID:13025"} -xref: MedDRA:10038933 {source="Orphanet:90050", source="EFO:1001158", source="ORDO:90050/e"} -xref: MESH:D012178 {source="Orphanet:90050", source="EFO:1001158", source="MONDO:equivalentTo", source="ORDO:90050/e", source="DOID:13025"} +xref: MedDRA:10038933 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e"} +xref: MESH:D012178 {source="Orphanet:90050", source="EFO:1001158", source="MONDO:equivalentTo", source="Orphanet:90050/e", source="DOID:13025"} xref: NCIT:C34982 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025"} -xref: OMIM:133780 {source="MONDO:subClassOf", source="Orphanet:90050", source="MONDO:relatedTo", source="ORDO:90050/ntbt"} +xref: OMIM:133780 {source="MONDO:subClassOf", source="Orphanet:90050", source="MONDO:relatedTo", source="Orphanet:90050/ntbt"} xref: Orphanet:90050 {source="MONDO:equivalentTo"} xref: SCTID:155110004 {source="DOID:13025"} xref: SCTID:415297005 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025"} xref: SCTID:74277007 {source="DOID:13025"} -xref: UMLS:C0035344 {source="Orphanet:90050", source="MONDO:equivalentTo", source="NCIT:C34982", source="ORDO:90050/e", source="DOID:13025"} +xref: UMLS:C0035344 {source="Orphanet:90050", source="MONDO:equivalentTo", source="Orphanet:90050/e", source="NCIT:C34982", source="DOID:13025"} is_a: MONDO:0005283 {source="DOID:13025", source="EFO:1001158", source="MESH:D012178", source="NCIT:C34982", source="linkedlifedata"} ! retinal disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: confidence "0.9347826086956526" xsd:double @@ -122566,16 +122538,16 @@ synonym: "tumor of the Delta cells" EXACT [NCIT:C3379] xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"} xref: EFO:1001187 {source="MONDO:equivalentTo"} xref: GARD:0004900 {source="MONDO:equivalentTo"} -xref: ICD10CM:E16.8 {source="ORDO:97283/ntbt", source="Orphanet:97283"} +xref: ICD10CM:E16.8 {source="Orphanet:97283", source="Orphanet:97283/ntbt"} xref: ICD9:235.5 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8156/1 {source="NCIT:C3379"} -xref: MedDRA:10041329 {source="EFO:1001187", source="ORDO:97283/e", source="Orphanet:97283"} -xref: MESH:D013005 {source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo", source="ORDO:97283/e", source="Orphanet:97283"} +xref: MedDRA:10041329 {source="Orphanet:97283/e", source="EFO:1001187", source="Orphanet:97283"} +xref: MESH:D013005 {source="Orphanet:97283/e", source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo", source="Orphanet:97283"} xref: NCIT:C3379 {source="DOID:4430", source="MONDO:equivalentTo"} xref: Orphanet:97283 {source="MONDO:equivalentTo"} xref: SCTID:128642005 {source="DOID:4430"} xref: SCTID:253006001 {source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo"} -xref: UMLS:C0037661 {source="DOID:4430", source="MONDO:equivalentTo", source="ORDO:97283/e", source="Orphanet:97283", source="NCIT:C3379"} +xref: UMLS:C0037661 {source="Orphanet:97283/e", source="DOID:4430", source="MONDO:equivalentTo", source="Orphanet:97283", source="NCIT:C3379"} is_a: MONDO:0000386 {source="MONDO:Redundant", source="NCIT:C3379", source="indirect"} ! digestive system neuroendocrine tumor, grade 1/2 is_a: MONDO:0005369 {source="EFO:1001187", source="MONDO:Redundant", source="indirect"} ! carcinoid tumor is_a: MONDO:0019954 {source="MONDO:Redundant", source="Orphanet:97283", source="Orphanet:97283/inferred"} ! pancreatic neuroendocrine tumor @@ -123042,12 +123014,12 @@ synonym: "tricuspid valve prolapse (disease)" EXACT [https://orcid.org/0000-0002 xref: DOID:5644 {source="MONDO:equivalentTo", source="EFO:1001218"} xref: EFO:1001218 {source="MONDO:equivalentTo"} xref: HP:0001704 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q22.8 {source="ORDO:95458/ntbt", source="Orphanet:95458"} -xref: MedDRA:10066862 {source="ORDO:95458/e", source="Orphanet:95458"} -xref: MESH:D014263 {source="DOID:5644", source="ORDO:95458/e", source="MONDO:equivalentTo", source="Orphanet:95458", source="EFO:1001218"} +xref: ICD10CM:Q22.8 {source="Orphanet:95458", source="Orphanet:95458/ntbt"} +xref: MedDRA:10066862 {source="Orphanet:95458", source="Orphanet:95458/e"} +xref: MESH:D014263 {source="DOID:5644", source="MONDO:equivalentTo", source="Orphanet:95458", source="Orphanet:95458/e", source="EFO:1001218"} xref: Orphanet:95458 {source="MONDO:equivalentTo"} xref: SCTID:253383003 {source="DOID:5644", source="MONDO:equivalentTo"} -xref: UMLS:C0040962 {source="DOID:5644", source="ORDO:95458/e", source="MONDO:equivalentTo", source="Orphanet:95458"} +xref: UMLS:C0040962 {source="DOID:5644", source="MONDO:equivalentTo", source="Orphanet:95458", source="Orphanet:95458/e"} is_a: MONDO:0000471 {source="DOID:5644", source="indirect", source="linkedlifedata/inferred"} ! tricuspid valve disorder is_a: MONDO:0005561 {source="EFO:1001218"} ! aortic disorder is_a: MONDO:0020289 {source="Orphanet:95458"} ! congenital tricuspid malformation @@ -123546,17 +123518,17 @@ synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702] xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: EFO:1001251 {source="MONDO:equivalentTo"} xref: GARD:0010147 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:107", source="ORDO:107/attributed", source="ORDO:107/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:107/attributed", source="Orphanet:107/ntbt", source="Orphanet:107"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071135 {source="ORDO:107/e", source="Orphanet:107"} -xref: MESH:D019280 {source="DOID:14702", source="EFO:1001251", source="ORDO:107/e", source="Orphanet:107", source="MONDO:equivalentTo"} +xref: MedDRA:10071135 {source="Orphanet:107", source="Orphanet:107/e"} +xref: MESH:D019280 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:equivalentTo", source="Orphanet:107/e"} xref: NCIT:C98983 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo"} -xref: OMIM:113650 {source="DOID:14702", source="EFO:1001251", source="ORDO:107/e", source="Orphanet:107", source="MONDO:superClassOf"} -xref: OMIM:610896 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:superClassOf", source="ORDO:107/btnt"} +xref: OMIM:113650 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:superClassOf", source="Orphanet:107/e"} +xref: OMIM:610896 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107/btnt", source="Orphanet:107", source="MONDO:superClassOf"} xref: Orphanet:107 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: SCTID:205806009 {source="DOID:14702", source="EFO:1001251"} xref: SCTID:290006 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo"} -xref: UMLS:C0265234 {source="DOID:14702", source="EFO:1001251", source="ORDO:107/e", source="Orphanet:107", source="MONDO:equivalentTo", source="NCIT:C98983"} +xref: UMLS:C0265234 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:equivalentTo", source="NCIT:C98983", source="Orphanet:107/e"} xref: UMLS:CN043574 {source="MONDO:equivalentTo"} xref: Wikipedia:Branchio-oto-renal_syndrome {source="EFO:1001251"} is_a: MONDO:0000426 {source="DOID:14702", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease @@ -123599,11 +123571,11 @@ subset: prototype_pattern synonym: "aortic aneurysm, familial abdominal" EXACT [OMIMPS:100070] synonym: "hereditary abdominal aortic aneurysm" EXACT [MONDO:patterns/hereditary] xref: GARD:0009181 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I71.4 {source="Orphanet:86", source="ORDO:86/attributed", source="ORDO:86/ntbt"} -xref: OMIM:100070 {source="Orphanet:86", source="MONDO:superClassOf", source="ORDO:86/e"} -xref: OMIM:609782 {source="Orphanet:86", source="MONDO:superClassOf", source="ORDO:86/btnt"} -xref: OMIM:611891 {source="Orphanet:86", source="MONDO:superClassOf", source="ORDO:86/btnt"} -xref: OMIM:614375 {source="Orphanet:86", source="MONDO:superClassOf", source="ORDO:86/btnt"} +xref: ICD10CM:I71.4 {source="Orphanet:86", source="Orphanet:86/attributed", source="Orphanet:86/ntbt"} +xref: OMIM:100070 {source="Orphanet:86", source="MONDO:superClassOf", source="Orphanet:86/e"} +xref: OMIM:609782 {source="Orphanet:86", source="Orphanet:86/btnt", source="MONDO:superClassOf"} +xref: OMIM:611891 {source="Orphanet:86", source="Orphanet:86/btnt", source="MONDO:superClassOf"} +xref: OMIM:614375 {source="Orphanet:86", source="Orphanet:86/btnt", source="MONDO:superClassOf"} xref: OMIMPS:100070 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:86 {source="MONDO:equivalentTo", source="OMIM:100070"} xref: SCTID:715364001 {source="MONDO:equivalentTo"} @@ -123635,17 +123607,17 @@ synonym: "syndrome of agenesis of abdominal muscles" EXACT [NCIT:C85033] synonym: "triad syndrome" EXACT [Orphanet:2970] xref: DOID:0060889 {source="MONDO:equivalentTo"} xref: GARD:0007479 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.4 {source="Orphanet:2970", source="DOID:0060889", source="ORDO:2970/attributed", source="ORDO:2970/ntbt"} +xref: ICD10CM:Q79.4 {source="Orphanet:2970/attributed", source="Orphanet:2970/ntbt", source="Orphanet:2970", source="DOID:0060889"} xref: ICD9:756.71 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10051025 {source="ORDO:2970/e", source="Orphanet:2970"} -xref: MESH:C536477 {source="ORDO:2970/e", source="Orphanet:2970", source="MONDO:directSiblingOf"} -xref: MESH:D011535 {source="ORDO:2970/e", source="Orphanet:2970", source="MONDO:equivalentTo", source="DOID:0060889"} +xref: MedDRA:10051025 {source="Orphanet:2970", source="Orphanet:2970/e"} +xref: MESH:C536477 {source="Orphanet:2970", source="Orphanet:2970/e", source="MONDO:directSiblingOf"} +xref: MESH:D011535 {source="Orphanet:2970", source="MONDO:equivalentTo", source="Orphanet:2970/e", source="DOID:0060889"} xref: NCIT:C85033 {source="MONDO:equivalentTo"} -xref: OMIM:100100 {source="ORDO:2970/e", source="Orphanet:2970", source="MONDO:equivalentTo", source="DOID:0060889"} +xref: OMIM:100100 {source="Orphanet:2970", source="MONDO:equivalentTo", source="Orphanet:2970/e", source="DOID:0060889"} xref: Orphanet:2970 {source="MONDO:equivalentTo", source="OMIM:100100", source="DOID:0060889"} xref: SCTID:5187006 {source="MONDO:equivalentTo"} -xref: UMLS:C0033770 {source="ORDO:2970/e", source="Orphanet:2970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:100100", source="NCIT:C85033"} -xref: UMLS:C0265363 {source="ORDO:2970/e", source="Orphanet:2970", source="MONDO:directSiblingOf"} +xref: UMLS:C0033770 {source="Orphanet:2970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:100100", source="NCIT:C85033", source="Orphanet:2970/e"} +xref: UMLS:C0265363 {source="Orphanet:2970", source="Orphanet:2970/e", source="MONDO:directSiblingOf"} is_a: MONDO:0002254 {source="DOID:0060889", source="MONDO:Redundant", source="NCIT:C85033", source="indirect"} ! syndromic disease is_a: MONDO:0015620 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:2970"} ! syndromic urogenital tract malformation is_a: MONDO:0018559 {source="Orphanet:2970"} ! fetal lower urinary tract obstruction @@ -123715,19 +123687,19 @@ synonym: "limb scalp and skull defects" RELATED [GARD:0005739] synonym: "limb, scalp and skull defects" EXACT [Orphanet:974] xref: DOID:0060227 {source="MONDO:equivalentTo"} xref: GARD:0005739 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:974", source="ORDO:974/attributed", source="ORDO:974/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:974/attributed", source="Orphanet:974/ntbt", source="Orphanet:974"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="ORDO:974/e"} -xref: OMIM:100300 {source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227", source="ORDO:974/e"} -xref: OMIM:614219 {source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227", source="ORDO:974/btnt"} -xref: OMIM:614814 {source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227", source="ORDO:974/btnt"} -xref: OMIM:615297 {source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227", source="ORDO:974/btnt"} -xref: OMIM:616028 {source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227", source="ORDO:974/btnt"} -xref: OMIM:616589 {source="Orphanet:974", source="MONDO:superClassOf", source="ORDO:974/btnt"} +xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="Orphanet:974/e"} +xref: OMIM:100300 {source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227", source="Orphanet:974/e"} +xref: OMIM:614219 {source="Orphanet:974/btnt", source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227"} +xref: OMIM:614814 {source="Orphanet:974/btnt", source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227"} +xref: OMIM:615297 {source="Orphanet:974/btnt", source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227"} +xref: OMIM:616028 {source="Orphanet:974/btnt", source="Orphanet:974", source="MONDO:superClassOf", source="DOID:0060227"} +xref: OMIM:616589 {source="Orphanet:974/btnt", source="Orphanet:974", source="MONDO:superClassOf"} xref: OMIMPS:100300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:equivalentTo", source="OMIM:100300"} xref: SCTID:34748004 {source="MONDO:equivalentTo", source="DOID:0060227"} -xref: UMLS:C0265268 {source="Orphanet:974", source="MONDO:equivalentTo", source="OMIM:100300", source="DOID:0060227", source="ORDO:974/e"} +xref: UMLS:C0265268 {source="Orphanet:974", source="MONDO:equivalentTo", source="OMIM:100300", source="DOID:0060227", source="Orphanet:974/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -123792,11 +123764,11 @@ synonym: "chondrodystrophia" EXACT [DOID:4480] synonym: "osteosclerosis congenita" EXACT [DOID:4480] xref: DOID:4480 {source="MONDO:equivalentTo"} xref: GARD:0008173 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.4 {source="ORDO:15/specific", source="ORDO:15/e", source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480"} -xref: MedDRA:10000452 {source="ORDO:15/e", source="Orphanet:15"} -xref: MESH:D000130 {source="ORDO:15/e", source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480"} +xref: ICD10CM:Q77.4 {source="MONDO:equivalentTo", source="Orphanet:15", source="Orphanet:15/specific", source="DOID:4480", source="Orphanet:15/e"} +xref: MedDRA:10000452 {source="Orphanet:15", source="Orphanet:15/e"} +xref: MESH:D000130 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"} xref: NCIT:C34345 {source="MONDO:equivalentTo", source="DOID:4480"} -xref: OMIM:100800 {source="ORDO:15/e", source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480"} +xref: OMIM:100800 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"} xref: Orphanet:15 {source="MONDO:equivalentTo", source="OMIM:100800"} xref: SCTID:190584003 {source="DOID:4480"} xref: SCTID:205467007 {source="DOID:4480"} @@ -123804,7 +123776,7 @@ xref: SCTID:248299001 {source="DOID:4480"} xref: SCTID:268273004 {source="DOID:4480"} xref: SCTID:268350005 {source="DOID:4480"} xref: SCTID:86268005 {source="MONDO:equivalentTo", source="DOID:4480"} -xref: UMLS:C0001080 {source="ORDO:15/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:15", source="NCIT:C34345", source="DOID:4480", source="OMIM:100800"} +xref: UMLS:C0001080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:15", source="NCIT:C34345", source="DOID:4480", source="Orphanet:15/e", source="OMIM:100800"} is_a: MONDO:0005516 {source="DOID:4480", source="MESH:D000130"} ! osteochondrodysplasia is_a: MONDO:0019685 {source="Orphanet:15"} ! FGFR3-related chondrodysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 @@ -123852,19 +123824,19 @@ synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical, OMIM:101000] synonym: "NF2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3274, OMIM:101000, Orphanet:637] xref: DOID:0111252 {source="MONDO:equivalentTo"} xref: GARD:0007193 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q85.0 {source="Orphanet:637", source="ORDO:637/attributed", source="ORDO:637/ntbt"} +xref: ICD10CM:Q85.0 {source="Orphanet:637", source="Orphanet:637/attributed", source="Orphanet:637/ntbt"} xref: ICD10CM:Q85.02 {source="MONDO:equivalentTo"} xref: ICD9:237.72 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10000523 {source="ORDO:637/e", source="Orphanet:637"} -xref: MedDRA:10029271 {source="ORDO:637/e", source="Orphanet:637"} -xref: MESH:D009464 {source="ORDO:637/e", source="MONDO:relatedTo", source="Orphanet:637"} -xref: MESH:D016518 {source="ORDO:637/e", source="Orphanet:637"} +xref: MedDRA:10000523 {source="Orphanet:637", source="Orphanet:637/e"} +xref: MedDRA:10029271 {source="Orphanet:637", source="Orphanet:637/e"} +xref: MESH:D009464 {source="MONDO:relatedTo", source="Orphanet:637", source="Orphanet:637/e"} +xref: MESH:D016518 {source="Orphanet:637", source="Orphanet:637/e"} xref: NCIT:C3274 {source="MONDO:equivalentTo"} -xref: OMIM:101000 {source="ORDO:637/e", source="MONDO:equivalentTo", source="Orphanet:637"} +xref: OMIM:101000 {source="MONDO:equivalentTo", source="Orphanet:637", source="Orphanet:637/e"} xref: Orphanet:637 {source="OMIM:101000", source="MONDO:equivalentTo"} xref: SCTID:92503002 {source="MONDO:equivalentTo"} -xref: UMLS:C0027832 {source="ORDO:637/e", source="OMIM:101000", source="NCBI:mim2gene_medline", source="NCIT:C3274", source="MONDO:equivalentTo", source="Orphanet:637"} -xref: UMLS:C0027859 {source="ORDO:637/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:637"} +xref: UMLS:C0027832 {source="OMIM:101000", source="NCBI:mim2gene_medline", source="NCIT:C3274", source="MONDO:equivalentTo", source="Orphanet:637", source="Orphanet:637/e"} +xref: UMLS:C0027859 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:637", source="Orphanet:637/e"} xref: UMLS:C1136041 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:637"} xref: UMLS:C1136042 {source="OMIM:101000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1136043 {source="OMIM:101000", source="MONDO:notFoundInDiseaseSubset"} @@ -123916,14 +123888,14 @@ synonym: "syndactylic oxycephaly" RELATED [GARD:0005833] synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099] synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200] xref: GARD:0005833 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:87", source="ORDO:87/inclusion", source="ORDO:87/ntbt"} -xref: MedDRA:10002943 {source="Orphanet:87", source="ORDO:87/e"} -xref: MESH:D000168 {source="Orphanet:87", source="ORDO:87/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:87", source="Orphanet:87/ntbt", source="Orphanet:87/inclusion"} +xref: MedDRA:10002943 {source="Orphanet:87", source="Orphanet:87/e"} +xref: MESH:D000168 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"} xref: NCIT:C99099 {source="MONDO:equivalentTo"} -xref: OMIM:101200 {source="Orphanet:87", source="ORDO:87/e", source="MONDO:equivalentTo"} +xref: OMIM:101200 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"} xref: Orphanet:87 {source="MONDO:equivalentTo", source="OMIM:101200"} xref: SCTID:205258009 {source="MONDO:equivalentTo"} -xref: UMLS:C0001193 {source="Orphanet:87", source="ORDO:87/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:101200", source="NCIT:C99099"} +xref: UMLS:C0001193 {source="Orphanet:87", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:101200", source="Orphanet:87/e", source="NCIT:C99099"} xref: UMLS:C1510455 {source="Orphanet:87", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1863389 {source="OMIM:101200", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1863390 {source="OMIM:101200", source="MONDO:notFoundInDiseaseSubset"} @@ -123959,15 +123931,15 @@ synonym: "type III Acrocephalosyndactyly" EXACT [NCIT:C75034] xref: DOID:14768 {source="MONDO:equivalentTo"} xref: EFO:0007029 {source="MONDO:equivalentTo"} xref: GARD:0007598 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:794/attributed", source="ORDO:794/ntbt", source="Orphanet:794"} +xref: ICD10CM:Q87.0 {source="Orphanet:794/attributed", source="Orphanet:794/ntbt", source="Orphanet:794"} xref: MESH:D000168 {source="DOID:14768", source="MONDO:directSiblingOf"} xref: NCIT:C75034 {source="DOID:14768", source="MONDO:equivalentTo"} -xref: OMIM:101400 {source="DOID:14768", source="MONDO:equivalentTo", source="ORDO:794/e", source="Orphanet:794"} +xref: OMIM:101400 {source="DOID:14768", source="Orphanet:794/e", source="MONDO:equivalentTo", source="Orphanet:794"} xref: Orphanet:794 {source="MONDO:equivalentTo", source="OMIM:101400"} xref: SCTID:390726000 {source="DOID:14768"} xref: SCTID:390746005 {source="DOID:14768"} xref: SCTID:83015004 {source="DOID:14768", source="MONDO:equivalentTo"} -xref: UMLS:C0175699 {source="DOID:14768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75034", source="OMIM:101400", source="ORDO:794/e", source="Orphanet:794"} +xref: UMLS:C0175699 {source="DOID:14768", source="NCBI:mim2gene_medline", source="Orphanet:794/e", source="MONDO:equivalentTo", source="NCIT:C75034", source="OMIM:101400", source="Orphanet:794"} xref: UMLS:C1863370 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:101400"} xref: UMLS:C1863371 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:101400"} is_a: MONDO:0015368 ! neuro-ophthalmological disease @@ -123997,17 +123969,17 @@ synonym: "Pfeiffer type acrocephalosyndactyly" RELATED [GARD:0007380] synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100] xref: DOID:14705 {source="MONDO:equivalentTo"} xref: GARD:0007380 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:710", source="ORDO:710/attributed", source="ORDO:710/ntbt"} -xref: MESH:C538582 {source="Orphanet:710", source="ORDO:710/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:710/attributed", source="Orphanet:710/ntbt", source="Orphanet:710"} +xref: MESH:C538582 {source="Orphanet:710", source="Orphanet:710/e"} xref: MESH:D000168 {source="DOID:14705", source="MONDO:directSiblingOf"} xref: NCIT:C99100 {source="DOID:14705", source="MONDO:equivalentTo"} -xref: OMIM:101600 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="ORDO:710/e"} +xref: OMIM:101600 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="Orphanet:710/e"} xref: Orphanet:710 {source="MONDO:equivalentTo", source="OMIM:101600"} xref: SCTID:70410008 {source="DOID:14705", source="MONDO:equivalentTo"} xref: UMLS:C0220658 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="NCIT:C99100", source="OMIM:101600"} xref: UMLS:C0265303 {source="Orphanet:710", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1863356 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931888 {source="Orphanet:710", source="MONDO:notFoundInDiseaseSubset", source="ORDO:710/e"} +xref: UMLS:C2931888 {source="Orphanet:710", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:710/e"} is_a: MONDO:0000078 {source="Wikipedia:Acrocephalosyndactylia"} ! acrocephalopolysyndactyly is_a: MONDO:0015368 ! neuro-ophthalmological disease is_a: MONDO:0019796 {source="DOID:14705", source="NCIT:C99100", source="Orphanet:710", source="indirect", source="linkedlifedata"} ! acrocephalosyndactyly @@ -124029,7 +124001,7 @@ xref: OMIM:101800 {source="MONDO:equivalentTo"} xref: Orphanet:280651 {source="MONDO:subClassOf", source="OMIM:101800"} xref: Orphanet:950 {source="MONDO:subClassOf", source="OMIM:101800"} xref: UMLS:C3276228 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:101800"} -is_a: MONDO:0017240 {source="ORDO:280651/btnt"} ! acrodysostosis with multiple hormone resistance +is_a: MONDO:0017240 {source="Orphanet:280651/btnt"} ! acrodysostosis with multiple hormone resistance is_a: MONDO:0019797 {source="DC-OMIM:101800", source="OMIM:101800"} ! acrodysostosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9388 {source="mim2gene_medgen"} ! PRKAR1A relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -124048,13 +124020,13 @@ synonym: "Opitz Mollica Sorge syndrome" EXACT [DOID:0060384] synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786] xref: DOID:0060384 {source="MONDO:equivalentTo"} xref: GARD:0000494 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.4 {source="ORDO:1786/attributed", source="ORDO:1786/ntbt", source="Orphanet:1786"} -xref: MESH:C538182 {source="DOID:0060384", source="ORDO:1786/e", source="MONDO:equivalentTo", source="Orphanet:1786"} -xref: OMIM:101805 {source="DOID:0060384", source="ORDO:1786/e", source="MONDO:equivalentTo", source="Orphanet:1786"} +xref: ICD10CM:Q75.4 {source="Orphanet:1786", source="Orphanet:1786/attributed", source="Orphanet:1786/ntbt"} +xref: MESH:C538182 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} +xref: OMIM:101805 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} xref: Orphanet:1786 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo"} xref: SCTID:720419000 {source="MONDO:equivalentTo"} xref: UMLS:C0796243 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931762 {source="DOID:0060384", source="OMIM:101805", source="ORDO:1786/e", source="MONDO:equivalentTo", source="Orphanet:1786"} +xref: UMLS:C2931762 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1786", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1786"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:1786"} ! branchial arch or oral-acral syndrome @@ -124102,14 +124074,14 @@ xref: DOID:0060362 {source="MONDO:equivalentTo", source="EFO:1000758"} xref: EFO:1000758 {source="MONDO:equivalentTo"} xref: GARD:0000125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0000133 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:38/attributed", source="ORDO:38/ntbt", source="Orphanet:38"} -xref: MESH:C535653 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="ORDO:38/e"} -xref: OMIM:101850 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="ORDO:38/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:38", source="Orphanet:38/attributed", source="Orphanet:38/ntbt"} +xref: MESH:C535653 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"} +xref: OMIM:101850 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"} xref: OMIM:202550 {source="GARD:0000133", source="MONDO:relatedTo"} xref: Orphanet:38 {source="DOID:0060362", source="MONDO:equivalentTo", source="OMIM:101850"} xref: Orphanet:99740 {source="GARD:0000133"} xref: SCTID:111029001 {source="DOID:0060362"} -xref: UMLS:C0545044 {source="DOID:0060362", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:38", source="ORDO:38/e", source="OMIM:101850"} +xref: UMLS:C0545044 {source="DOID:0060362", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:38", source="OMIM:101850", source="Orphanet:38/e"} is_a: MONDO:0017676 {source="Orphanet:38"} ! marginal papular palmoplantar keratoderma is_a: MONDO:0019271 {source="Orphanet:38"} ! acrokeratoderma is_a: MONDO:0019292 {source="MONDO:cjm", source="Orphanet:38/inferred", source="https://github.com/Orphanet/ORDO/issues/3"} ! dermis elastic tissue disorder @@ -124129,14 +124101,14 @@ synonym: "AKV of Hopf" EXACT [Orphanet:79151] synonym: "Hopf disease" EXACT [DOID:0050606, OMIM:101900] xref: DOID:0050606 {source="MONDO:equivalentTo", source="EFO:1000666"} xref: EFO:1000666 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:79151/attributed", source="ORDO:79151/ntbt", source="Orphanet:79151"} +xref: ICD10CM:Q82.8 {source="Orphanet:79151", source="Orphanet:79151/attributed", source="Orphanet:79151/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069445 {source="ORDO:79151/e", source="Orphanet:79151"} +xref: MedDRA:10069445 {source="Orphanet:79151", source="Orphanet:79151/e"} xref: NCIT:C27519 {source="MONDO:equivalentTo"} -xref: OMIM:101900 {source="ORDO:79151/e", source="MONDO:equivalentTo", source="Orphanet:79151", source="DOID:0050606"} +xref: OMIM:101900 {source="MONDO:equivalentTo", source="Orphanet:79151", source="Orphanet:79151/e", source="DOID:0050606"} xref: Orphanet:79151 {source="MONDO:equivalentTo", source="OMIM:101900"} xref: SCTID:400085009 {source="MONDO:equivalentTo"} -xref: UMLS:C0265971 {source="NCBI:mim2gene_medline", source="ORDO:79151/e", source="MONDO:equivalentTo", source="Orphanet:79151", source="NCIT:C27519", source="OMIM:101900"} +xref: UMLS:C0265971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79151", source="Orphanet:79151/e", source="NCIT:C27519", source="OMIM:101900"} is_a: MONDO:0000001 {source="Orphanet:79151", source="Orphanet:79151/inferred"} ! disease or disorder is_a: MONDO:0006566 {source="DOID:0050606", source="EFO:1000666", source="linkedlifedata", source="linkedlifedata/inferred"} ! keratosis is_a: MONDO:0019271 {source="Orphanet:79151"} ! acrokeratoderma @@ -124181,12 +124153,12 @@ synonym: "acromegaloid facial appearance syndrome" EXACT [OMIM:102150] synonym: "AFA syndrome" RELATED [OMIM:102150] synonym: "thick lips and oral mucosa" RELATED [OMIM:102150] xref: GARD:0000501 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:965/e", source="ORDO:965/specific", source="Orphanet:965"} -xref: MESH:C535655 {source="ORDO:965/e", source="Orphanet:965", source="MONDO:equivalentTo"} -xref: OMIM:102150 {source="ORDO:965/e", source="Orphanet:965", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:965", source="Orphanet:965/specific", source="Orphanet:965/e"} +xref: MESH:C535655 {source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"} +xref: OMIM:102150 {source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"} xref: Orphanet:965 {source="OMIM:102150", source="MONDO:equivalentTo"} xref: SCTID:720456009 {source="MONDO:equivalentTo"} -xref: UMLS:C0796280 {source="ORDO:965/e", source="OMIM:102150", source="NCBI:mim2gene_medline", source="Orphanet:965", source="MONDO:equivalentTo"} +xref: UMLS:C0796280 {source="OMIM:102150", source="NCBI:mim2gene_medline", source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"} is_a: MONDO:0015160 {source="Orphanet:965", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021147 {source="Orphanet:965", source="Orphanet:965/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043007 {source="Orphanet:965"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -124264,13 +124236,13 @@ synonym: "acromicric dysplasia" EXACT [MONDO:Lexical, OMIM:102370] synonym: "acromicric skeletal dysplasia" RELATED [GARD:0000007] xref: DOID:0111243 {source="MONDO:equivalentTo"} xref: GARD:0000007 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:969/attributed", source="ORDO:969/ntbt", source="Orphanet:969"} +xref: ICD10CM:Q77.8 {source="Orphanet:969", source="Orphanet:969/attributed", source="Orphanet:969/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535662 {source="ORDO:969/e", source="MONDO:equivalentTo", source="Orphanet:969"} -xref: OMIM:102370 {source="ORDO:969/e", source="MONDO:equivalentTo", source="Orphanet:969"} +xref: MESH:C535662 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"} +xref: OMIM:102370 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"} xref: Orphanet:969 {source="OMIM:102370", source="MONDO:equivalentTo"} xref: SCTID:254090007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265287 {source="OMIM:102370", source="ORDO:969/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:969"} +xref: UMLS:C0265287 {source="OMIM:102370", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:969", source="Orphanet:969/e"} is_a: MONDO:0019695 {source="Orphanet:969"} ! acromelic dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3603 {source="mim2gene_medgen"} ! FBN1 property_value: confidence "8.375" xsd:double @@ -124307,23 +124279,23 @@ synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [OMIM:102500] synonym: "serpentine fibula-polycystic kidneys syndrome" EXACT [GARD:0000508] xref: DOID:2736 {source="MONDO:equivalentTo"} xref: GARD:0000508 {source="MONDO:equivalentTo"} -xref: ICD10CM:M89.5 {source="Orphanet:955", source="ORDO:955/attributed", source="ORDO:955/ntbt"} +xref: ICD10CM:M89.5 {source="Orphanet:955/attributed", source="Orphanet:955/ntbt", source="Orphanet:955"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C531695 {source="ORDO:955/e", source="MONDO:equivalentObsolete", source="Orphanet:955"} -xref: MESH:C535663 {source="ORDO:955/e", source="Orphanet:955", source="MONDO:equivalentTo"} +xref: MESH:C531695 {source="MONDO:equivalentObsolete", source="Orphanet:955", source="Orphanet:955/e"} +xref: MESH:C535663 {source="Orphanet:955", source="MONDO:equivalentTo", source="Orphanet:955/e"} xref: MESH:C537586 {source="MONDO:equivalentTo"} xref: MESH:D030981 {source="MONDO:subClassOf", source="DOID:2736"} -xref: MESH:D031845 {source="ORDO:955/e", source="Orphanet:955", source="DOID:2736"} +xref: MESH:D031845 {source="Orphanet:955", source="DOID:2736", source="Orphanet:955/e"} xref: NCIT:C35545 {source="MONDO:subClassOf", source="DOID:2736"} xref: NCIT:C84745 {source="MONDO:equivalentTo", source="DOID:2736"} -xref: OMIM:102400 {source="MONDO:subClassOf", source="ORDO:955/btnt"} -xref: OMIM:102500 {source="ORDO:955/e", source="Orphanet:955", source="MONDO:equivalentTo", source="DOID:2736"} +xref: OMIM:102400 {source="MONDO:subClassOf", source="Orphanet:955/btnt"} +xref: OMIM:102500 {source="Orphanet:955", source="MONDO:equivalentTo", source="DOID:2736", source="Orphanet:955/e"} xref: Orphanet:955 {source="MONDO:equivalentTo", source="OMIM:102500"} xref: SCTID:27201004 {source="MONDO:subClassOf", source="DOID:2736"} xref: SCTID:63122002 {source="MONDO:equivalentTo", source="DOID:2736"} -xref: UMLS:C0917715 {source="NCIT:C84745", source="ORDO:955/e", source="Orphanet:955", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:102500", source="DOID:2736"} +xref: UMLS:C0917715 {source="NCIT:C84745", source="Orphanet:955", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:102500", source="DOID:2736", source="Orphanet:955/e"} xref: UMLS:C0917990 {source="MONDO:notFoundInDiseaseSubset", source="DOID:2736"} -xref: UMLS:C2930971 {source="ORDO:955/e", source="Orphanet:955", source="MONDO:equivalentTo"} +xref: UMLS:C2930971 {source="Orphanet:955", source="MONDO:equivalentTo", source="Orphanet:955/e"} is_a: MONDO:0000426 {source="DOID:2736", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84745", source="indirect"} ! syndromic disease is_a: MONDO:0003157 {source="MESH:D010015"} ! disappearing bone disease @@ -124347,9 +124319,9 @@ synonym: "acropectorovertebral dysplasia F form" RELATED [GARD:0000512] synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical, OMIM:102510] synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957] xref: GARD:0000512 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="ORDO:957/attributed", source="ORDO:957/ntbt", source="Orphanet:957"} +xref: ICD10CM:Q74.8 {source="Orphanet:957", source="Orphanet:957/attributed", source="Orphanet:957/ntbt"} xref: MESH:C566319 {source="MONDO:equivalentTo"} -xref: OMIM:102510 {source="ORDO:957/e", source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957"} +xref: OMIM:102510 {source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="Orphanet:957/e"} xref: Orphanet:957 {source="GARD:0000512", source="MONDO:equivalentTo", source="OMIM:102510"} xref: SCTID:720457000 {source="MONDO:equivalentTo"} xref: UMLS:C1863307 {source="NCBI:mim2gene_medline", source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="OMIM:102510"} @@ -124364,10 +124336,10 @@ def: "Acrorenal syndrome comprises a wide spectrum of congenital malformative di subset: ordo_malformation_syndrome {source="Orphanet:971"} synonym: "acrorenal syndrome" EXACT [OMIM:102520] xref: DOID:0060347 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:971/attributed", source="ORDO:971/ntbt", source="Orphanet:971"} +xref: ICD10CM:Q87.2 {source="Orphanet:971/attributed", source="Orphanet:971/ntbt", source="Orphanet:971"} xref: MESH:C563159 {source="DOID:0060347", source="MONDO:equivalentTo"} -xref: OMIM:102520 {source="DOID:0060347", source="MONDO:equivalentTo", source="ORDO:971/e", source="Orphanet:971"} -xref: OMIM:201310 {source="DOID:0060347", source="MONDO:superClassOf", source="ORDO:971/btnt", source="Orphanet:971"} +xref: OMIM:102520 {source="Orphanet:971/e", source="DOID:0060347", source="MONDO:equivalentTo", source="Orphanet:971"} +xref: OMIM:201310 {source="DOID:0060347", source="MONDO:superClassOf", source="Orphanet:971/btnt", source="Orphanet:971"} xref: Orphanet:971 {source="MONDO:equivalentTo", source="OMIM:102520"} xref: SCTID:720458005 {source="MONDO:equivalentTo"} xref: UMLS:C0796290 {source="NCBI:mim2gene_medline", source="MONDO:superClassOf", source="Orphanet:971"} @@ -124398,7 +124370,7 @@ xref: Orphanet:399808 {source="MONDO:subClassOf", source="OMIM:102530"} xref: SCTID:236818008 {source="MONDO:equivalentTo"} xref: UMLS:C0403825 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:102530"} is_a: MONDO:0004983 {source="DC-OMIM:102530", source="MONDO:Redundant", source="OMIM:102530"} ! azoospermia -is_a: MONDO:0015746 {source="ORDO:171709/btnt"} ! male infertility due to globozoospermia +is_a: MONDO:0015746 {source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 ! SPATA16 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 {source="mim2gene_medgen"} ! SPATA16 @@ -124429,9 +124401,9 @@ synonym: "digits 2-5 hypodactyly, unilateral" EXACT [Orphanet:973] synonym: "digits 2-5 oligodactyly, unilateral" EXACT [Orphanet:973] synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377, OMIM:102650] xref: GARD:0000377 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q71.3 {source="Orphanet:973", source="ORDO:973/attributed", source="ORDO:973/ntbt"} +xref: ICD10CM:Q71.3 {source="Orphanet:973", source="Orphanet:973/attributed", source="Orphanet:973/ntbt"} xref: MESH:C562417 {source="MONDO:equivalentTo"} -xref: OMIM:102650 {source="Orphanet:973", source="GARD:0000377", source="MONDO:equivalentTo", source="ORDO:973/e"} +xref: OMIM:102650 {source="Orphanet:973", source="GARD:0000377", source="MONDO:equivalentTo", source="Orphanet:973/e"} xref: Orphanet:294990 {source="MONDO:subClassOf", source="OMIM:102650"} xref: Orphanet:973 {source="OMIM:102650", source="GARD:0000377", source="MONDO:equivalentTo"} xref: UMLS:C0220660 {source="OMIM:102650", source="GARD:0000377", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -124475,19 +124447,19 @@ xref: CSP:1560-6660 {source="DOID:5810"} xref: DOID:5810 {source="MONDO:equivalentTo"} xref: EFO:0009147 {source="MONDO:equivalentTo"} xref: GARD:0005748 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.3 {source="DOID:5810", source="ORDO:277/e", source="ORDO:277/specific", source="Orphanet:277"} +xref: ICD10CM:D81.3 {source="Orphanet:277/specific", source="DOID:5810", source="Orphanet:277/e", source="Orphanet:277"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066367 {source="ORDO:277/e", source="Orphanet:277"} -xref: MESH:C531816 {source="MONDO:equivalentTo", source="ORDO:277/e", source="Orphanet:277"} +xref: MedDRA:10066367 {source="Orphanet:277/e", source="Orphanet:277"} +xref: MESH:C531816 {source="Orphanet:277/e", source="MONDO:equivalentTo", source="Orphanet:277"} xref: NCIT:C3962 {source="DOID:5810", source="MONDO:equivalentTo"} -xref: OMIM:102700 {source="DOID:5810", source="MONDO:equivalentTo", source="ORDO:277/e", source="Orphanet:277"} +xref: OMIM:102700 {source="DOID:5810", source="Orphanet:277/e", source="MONDO:equivalentTo", source="Orphanet:277"} xref: Orphanet:277 {source="MONDO:equivalentTo", source="OMIM:102700"} xref: SCTID:124523006 {source="DOID:5810"} xref: SCTID:190738006 {source="DOID:5810"} xref: SCTID:190999009 {source="DOID:5810"} xref: SCTID:44940001 {source="DOID:5810", source="MONDO:equivalentTo"} xref: UMLS:C0268124 {source="DOID:5810", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3962", source="Orphanet:277"} -xref: UMLS:C0392607 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:277/e", source="Orphanet:277"} +xref: UMLS:C0392607 {source="Orphanet:277/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:277"} xref: UMLS:C1863236 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:102700"} xref: UMLS:C1863237 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:102700"} xref: UMLS:C1863239 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:102700"} @@ -124551,13 +124523,13 @@ synonym: "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carb synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050762 {source="MONDO:equivalentTo"} xref: GARD:0000550 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E79.8 {source="Orphanet:46", source="ORDO:46/attributed", source="ORDO:46/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:46/attributed", source="Orphanet:46/ntbt", source="Orphanet:46"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538235 {source="ORDO:46/e", source="Orphanet:46", source="MONDO:equivalentTo"} -xref: OMIM:103050 {source="ORDO:46/e", source="Orphanet:46", source="MONDO:equivalentTo"} +xref: MESH:C538235 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} +xref: OMIM:103050 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} xref: Orphanet:46 {source="MONDO:equivalentTo", source="OMIM:103050"} xref: SCTID:15285008 {source="MONDO:equivalentTo"} -xref: UMLS:C0268126 {source="ORDO:46/e", source="NCBI:mim2gene_medline", source="Orphanet:46", source="MONDO:equivalentTo", source="OMIM:103050"} +xref: UMLS:C0268126 {source="NCBI:mim2gene_medline", source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e", source="OMIM:103050"} is_a: MONDO:0004736 {source="DOID:0050762"} ! inherited amino acid metabolic disorder is_a: MONDO:0019236 {source="Orphanet:46"} ! inborn disorder of purine metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -124587,15 +124559,15 @@ synonym: "Neurolipomatosis" EXACT [Orphanet:36397] xref: DOID:3928 {source="MONDO:equivalentTo", source="EFO:1000667"} xref: EFO:1000667 {source="MONDO:equivalentTo"} xref: GARD:0005750 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.2 {source="ORDO:36397/ntbt", source="Orphanet:36397", source="DOID:3928"} +xref: ICD10CM:E88.2 {source="Orphanet:36397/ntbt", source="Orphanet:36397", source="DOID:3928"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10001294 {source="ORDO:36397/e", source="Orphanet:36397"} -xref: MESH:D000274 {source="MONDO:equivalentTo", source="ORDO:36397/e", source="Orphanet:36397", source="DOID:3928"} +xref: MedDRA:10001294 {source="Orphanet:36397/e", source="Orphanet:36397"} +xref: MESH:D000274 {source="Orphanet:36397/e", source="MONDO:equivalentTo", source="Orphanet:36397", source="DOID:3928"} xref: NCIT:C84540 {source="MONDO:equivalentTo", source="DOID:3928"} -xref: OMIM:103200 {source="MONDO:equivalentTo", source="ORDO:36397/e", source="Orphanet:36397", source="DOID:3928"} +xref: OMIM:103200 {source="Orphanet:36397/e", source="MONDO:equivalentTo", source="Orphanet:36397", source="DOID:3928"} xref: Orphanet:36397 {source="OMIM:103200", source="MONDO:equivalentTo"} xref: SCTID:71404003 {source="MONDO:equivalentTo", source="DOID:3928"} -xref: UMLS:C0001529 {source="OMIM:103200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:36397/e", source="NCIT:C84540", source="Orphanet:36397", source="DOID:3928"} +xref: UMLS:C0001529 {source="Orphanet:36397/e", source="OMIM:103200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84540", source="Orphanet:36397", source="DOID:3928"} xref: Wikipedia:Adiposis_dolorosa {source="EFO:1000667"} is_a: MONDO:0006574 {source="DOID:3928", source="EFO:1000667", source="MESH:D000274", source="linkedlifedata", source="linkedlifedata/inferred"} ! lipomatosis is_a: MONDO:0019296 {source="Orphanet:36397"} ! subcutaneous tissue disorder @@ -124613,7 +124585,7 @@ xref: OMIM:103230 {source="MONDO:equivalentTo"} xref: Orphanet:85138 {source="OMIM:103230", source="MONDO:directSiblingOf"} xref: SCTID:12427005 {source="MONDO:equivalentTo"} xref: UMLS:C0271740 {source="OMIM:103230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015129 {source="ORDO:85138/btnt"} ! chronic primary adrenal insufficiency +is_a: MONDO:0015129 {source="Orphanet:85138/btnt"} ! chronic primary adrenal insufficiency relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "0.10344827586206917" xsd:double @@ -124631,12 +124603,12 @@ synonym: "ADULT syndrome" EXACT [OMIM:103285] synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978] xref: DOID:0050601 {source="MONDO:equivalentTo"} xref: GARD:0000384 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:978", source="ORDO:978/attributed", source="ORDO:978/ntbt"} -xref: MESH:C538052 {source="ORDO:978/e", source="MONDO:equivalentTo", source="Orphanet:978"} -xref: OMIM:103285 {source="ORDO:978/e", source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978"} +xref: ICD10CM:Q87.2 {source="Orphanet:978", source="Orphanet:978/attributed", source="Orphanet:978/ntbt"} +xref: MESH:C538052 {source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} +xref: OMIM:103285 {source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} xref: Orphanet:978 {source="OMIM:103285", source="MONDO:equivalentTo"} xref: SCTID:720464003 {source="MONDO:equivalentTo"} -xref: UMLS:C1863204 {source="ORDO:978/e", source="OMIM:103285", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:978"} +xref: UMLS:C1863204 {source="OMIM:103285", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} is_a: MONDO:0000426 {source="DOID:0050601", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -124669,9 +124641,9 @@ synonym: "oromandibular limb hypoplasia" RELATED [OMIM:103300] synonym: "peromelia with micrognathia" RELATED [GARD:0000068] synonym: "peromelia with micrognathism" RELATED [OMIM:103300] xref: GARD:0000068 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:989", source="ORDO:989/attributed", source="ORDO:989/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:989", source="Orphanet:989/attributed", source="Orphanet:989/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:103300 {source="GARD:0000068", source="ORDO:989/e", source="MONDO:equivalentTo", source="Orphanet:989"} +xref: OMIM:103300 {source="GARD:0000068", source="MONDO:equivalentTo", source="Orphanet:989", source="Orphanet:989/e"} xref: Orphanet:989 {source="GARD:0000068", source="MONDO:equivalentTo", source="OMIM:103300"} xref: SCTID:35031005 {source="MONDO:equivalentTo"} xref: UMLS:C0595985 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:103300", source="Orphanet:989"} @@ -124721,7 +124693,7 @@ xref: MESH:C566307 {source="MONDO:equivalentTo"} xref: OMIM:103420 {source="MONDO:equivalentTo"} xref: Orphanet:91416 {source="MONDO:subClassOf", source="OMIM:103420"} xref: UMLS:C1863199 {source="OMIM:103420", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019627 {source="ORDO:91416/btnt"} ! isolated congenital alacrima +is_a: MONDO:0019627 {source="Orphanet:91416/btnt"} ! isolated congenital alacrima relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "2.7860082304526737" xsd:double @@ -124748,11 +124720,11 @@ synonym: "Tietz syndrome" EXACT [OMIM:103500] xref: DOID:0090002 {source="MONDO:equivalentTo"} xref: GARD:0007772 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536919 {source="ORDO:42665/e", source="Orphanet:42665", source="MONDO:equivalentTo"} -xref: OMIM:103500 {source="ORDO:42665/e", source="Orphanet:42665", source="MONDO:equivalentTo", source="DOID:0090002"} +xref: MESH:C536919 {source="Orphanet:42665", source="MONDO:equivalentTo", source="Orphanet:42665/e"} +xref: OMIM:103500 {source="Orphanet:42665", source="MONDO:equivalentTo", source="DOID:0090002", source="Orphanet:42665/e"} xref: Orphanet:42665 {source="MONDO:equivalentTo", source="DOID:0090002", source="OMIM:103500"} xref: SCTID:403805009 {source="MONDO:equivalentTo"} -xref: UMLS:C0391816 {source="ORDO:42665/e", source="Orphanet:42665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:103500"} +xref: UMLS:C0391816 {source="Orphanet:42665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:42665/e", source="OMIM:103500"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0019290 {source="MESH:C536919/inferred", source="Orphanet:42665"} ! hypopigmentation of the skin is_a: MONDO:0019589 {source="Orphanet:42665"} ! syndromic genetic hearing loss @@ -124782,17 +124754,17 @@ synonym: "pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580 xref: DOID:0080053 {source="MONDO:equivalentTo"} xref: GARD:0005770 {source="MONDO:equivalentTo"} xref: GARD:0007486 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="ORDO:79443/attributed", source="ORDO:79443/ntbt", source="Orphanet:79443"} +xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="Orphanet:79443/attributed", source="Orphanet:79443/ntbt", source="Orphanet:79443"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537045 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C129721 {source="MONDO:equivalentTo"} -xref: OMIM:103580 {source="DOID:0080053", source="MONDO:equivalentTo", source="ORDO:79443/e", source="Orphanet:79443", source="GARD:0005770"} +xref: OMIM:103580 {source="DOID:0080053", source="Orphanet:79443/e", source="MONDO:equivalentTo", source="Orphanet:79443", source="GARD:0005770"} xref: Orphanet:665 {source="OMIM:103580", source="GARD:0005770"} xref: Orphanet:79443 {source="OMIM:103580", source="MONDO:equivalentTo"} xref: SCTID:58833000 {source="MONDO:equivalentTo"} xref: UMLS:C0033806 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C2931404 {source="MONDO:equivalentTo"} -xref: UMLS:C3494506 {source="OMIM:103580", source="MONDO:equivalentTo", source="NCIT:C129721", source="ORDO:79443/e", source="Orphanet:79443"} +xref: UMLS:C3494506 {source="OMIM:103580", source="Orphanet:79443/e", source="MONDO:equivalentTo", source="NCIT:C129721", source="Orphanet:79443"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity @@ -124863,12 +124835,12 @@ synonym: "hyperaldosteronism, familial, type 1" RELATED [OMIM:103900] synonym: "hyperaldosteronism, familial, type I" RELATED [OMIM:103900] xref: DOID:14080 {source="MONDO:equivalentTo"} xref: GARD:0002790 {source="MONDO:equivalentTo"} -xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:403", source="ORDO:403/attributed", source="ORDO:403/ntbt"} +xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:403", source="Orphanet:403/attributed", source="Orphanet:403/ntbt"} xref: ICD10CM:E26.02 {source="DOID:14080", source="MONDO:equivalentTo"} xref: ICD9:255.11 {source="DOID:14080"} xref: MESH:C563177 {source="DOID:14080", source="MONDO:equivalentTo"} xref: NCIT:C123248 {source="DOID:14080", source="MONDO:otherHierarchy"} -xref: OMIM:103900 {source="DOID:14080", source="ORDO:403/e", source="Orphanet:403", source="MONDO:equivalentTo"} +xref: OMIM:103900 {source="DOID:14080", source="Orphanet:403", source="MONDO:equivalentTo", source="Orphanet:403/e"} xref: Orphanet:403 {source="MONDO:equivalentTo", source="OMIM:103900"} xref: SCTID:237743003 {source="DOID:14080"} xref: UMLS:C1260386 {source="DOID:14080", source="Orphanet:403", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:103900"} @@ -124918,8 +124890,8 @@ synonym: "PPK-CA, Stevanovic type" EXACT [Orphanet:1010] synonym: "Ppkca, Stevanovic type" RELATED [OMIM:104100] synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104100] xref: GARD:0000604 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:1010", source="ORDO:1010/attributed", source="ORDO:1010/ntbt"} -xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="ORDO:1010/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:1010", source="Orphanet:1010/attributed", source="Orphanet:1010/ntbt"} +xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="Orphanet:1010/e"} xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"} xref: SCTID:719518004 {source="MONDO:equivalentTo"} xref: UMLS:C1863093 {source="Orphanet:1010", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -124952,12 +124924,12 @@ synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" REL synonym: "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" RELATED [GARD:0000607] synonym: "Shokeir syndrome" EXACT [OMIM:104130, Orphanet:1008] xref: GARD:0000607 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1008/attributed", source="ORDO:1008/ntbt", source="Orphanet:1008"} -xref: MESH:C537057 {source="MONDO:equivalentTo", source="Orphanet:1008", source="ORDO:1008/e"} -xref: OMIM:104130 {source="MONDO:equivalentTo", source="Orphanet:1008", source="ORDO:1008/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1008", source="Orphanet:1008/attributed", source="Orphanet:1008/ntbt"} +xref: MESH:C537057 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} +xref: OMIM:104130 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} xref: Orphanet:1008 {source="OMIM:104130", source="MONDO:equivalentTo"} xref: SCTID:720980004 {source="MONDO:equivalentTo"} -xref: UMLS:C1863090 {source="OMIM:104130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1008", source="ORDO:1008/e"} +xref: UMLS:C1863090 {source="OMIM:104130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"} is_a: MONDO:0000508 {source="Orphanet:1008"} ! syndromic intellectual disability is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:1008"} ! genetic alopecia relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -124975,14 +124947,14 @@ synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_d synonym: "renal failure and sensorineural hearing loss" RELATED [GARD:0000624] xref: DOID:0110032 {source="MONDO:equivalentTo"} xref: GARD:0000624 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:88918/attributed", source="ORDO:88918/ntbt", source="Orphanet:88918"} -xref: MESH:C536586 {source="ORDO:88918/e", source="Orphanet:88918"} -xref: OMIM:104200 {source="MONDO:equivalentTo", source="ORDO:88918/e", source="DOID:0110032", source="Orphanet:88918"} +xref: ICD10CM:Q87.8 {source="Orphanet:88918/attributed", source="Orphanet:88918/ntbt", source="Orphanet:88918"} +xref: MESH:C536586 {source="Orphanet:88918/e", source="Orphanet:88918"} +xref: OMIM:104200 {source="Orphanet:88918/e", source="MONDO:equivalentTo", source="DOID:0110032", source="Orphanet:88918"} xref: Orphanet:63 {source="MONDO:subClassOf", source="OMIM:104200"} xref: Orphanet:88918 {source="OMIM:104200", source="MONDO:equivalentTo", source="DOID:0110032"} xref: SCTID:717766000 {source="MONDO:equivalentTo"} -xref: UMLS:C1567743 {source="NCBI:mim2gene_medline", source="OMIM:104200", source="MONDO:notFoundInDiseaseSubset", source="ORDO:88918/e", source="Orphanet:88918"} -xref: UMLS:C2931253 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:88918/e", source="Orphanet:88918"} +xref: UMLS:C1567743 {source="Orphanet:88918/e", source="NCBI:mim2gene_medline", source="OMIM:104200", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88918"} +xref: UMLS:C2931253 {source="Orphanet:88918/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88918"} is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MONDO:Redundant", source="Orphanet:88918"} ! Alport syndrome intersection_of: MONDO:0018965 ! Alport syndrome @@ -125075,7 +125047,7 @@ is_a: MONDO:0004975 {source="https://github.com/monarch-initiative/mondo/issues/ is_a: MONDO:0100087 ! familial Alzheimer disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/613 {source="mim2gene_medgen"} ! APOE relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: excluded_subClassOf MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +relationship: excluded_subClassOf MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3947 property_value: confidence "1.7975949917804632" xsd:double @@ -125124,7 +125096,7 @@ xref: Orphanet:100031 {source="MONDO:subClassOf", source="OMIM:104500"} xref: SCTID:234961008 {source="MONDO:equivalentTo"} xref: UMLS:C0399368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104500"} is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease -is_a: MONDO:0015047 {source="ORDO:100031/btnt", source="linkedlifedata"} ! amelogenesis imperfecta type 1 +is_a: MONDO:0015047 {source="Orphanet:100031/btnt", source="linkedlifedata"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110052", source="MESH:C562879", source="MONDO:Redundant", source="OMIM:104500", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3344 ! ENAM @@ -125147,11 +125119,11 @@ synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510] synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510] synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110053 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="Orphanet:100034", source="DOID:0110053", source="ORDO:100034/attributed", source="ORDO:100034/ntbt"} +xref: ICD10CM:K00.5 {source="Orphanet:100034/attributed", source="Orphanet:100034/ntbt", source="Orphanet:100034", source="DOID:0110053"} xref: MESH:C566293 {source="MONDO:equivalentTo"} -xref: OMIM:104510 {source="ORDO:100034/e", source="Orphanet:100034", source="MONDO:equivalentTo", source="DOID:0110053"} +xref: OMIM:104510 {source="Orphanet:100034", source="MONDO:equivalentTo", source="DOID:0110053", source="Orphanet:100034/e"} xref: Orphanet:100034 {source="MONDO:equivalentTo", source="OMIM:104510"} -xref: UMLS:C0399373 {source="ORDO:100034/e", source="Orphanet:100034", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0399373 {source="Orphanet:100034", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100034/e"} xref: UMLS:C1863012 {source="Orphanet:100034", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:104510"} is_a: MONDO:0003847 {source="Orphanet:100034/inferred"} ! Mendelian disease is_a: MONDO:0019507 {source="DC-OMIM:104510", source="DOID:0110053", source="MESH:C566293", source="MONDO:Redundant", source="OMIM:104510", source="Orphanet:100034"} ! amelogenesis imperfecta @@ -125184,7 +125156,7 @@ xref: OMIM:104530 {source="MONDO:equivalentTo", source="GARD:0000645", source="D xref: Orphanet:100031 {source="MONDO:subClassOf", source="OMIM:104530"} xref: Orphanet:88661 {source="MONDO:subClassOf", source="OMIM:104530"} xref: UMLS:C0399367 {source="NCBI:mim2gene_medline", source="OMIM:104530", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015047 {source="ORDO:100031/btnt"} ! amelogenesis imperfecta type 1 +is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110054", source="MESH:C538240", source="MONDO:Redundant", source="OMIM:104530", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6490 ! LAMB3 @@ -125201,12 +125173,12 @@ synonym: "amelo-onycho-hypohidrotic syndrome" RELATED [ISBN:978-88-470-0687-4] synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570] synonym: "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" RELATED [GARD:0000647] xref: GARD:0000647 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="ORDO:1028/attributed", source="ORDO:1028/ntbt", source="Orphanet:1028"} -xref: MESH:C538245 {source="MONDO:equivalentTo", source="Orphanet:1028", source="ORDO:1028/e"} -xref: OMIM:104570 {source="MONDO:equivalentTo", source="Orphanet:1028", source="ORDO:1028/e"} +xref: ICD10CM:Q82.4 {source="Orphanet:1028", source="Orphanet:1028/attributed", source="Orphanet:1028/ntbt"} +xref: MESH:C538245 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} +xref: OMIM:104570 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} xref: Orphanet:1028 {source="OMIM:104570", source="MONDO:equivalentTo"} xref: SCTID:715404000 {source="MONDO:equivalentTo"} -xref: UMLS:C1863006 {source="OMIM:104570", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1028", source="ORDO:1028/e"} +xref: UMLS:C1863006 {source="OMIM:104570", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"} is_a: MONDO:0019287 {source="Orphanet:1028", source="linkedlifedata"} ! ectodermal dysplasia syndrome property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome xsd:anyURI {source="GARD:0000647"} @@ -125247,10 +125219,10 @@ synonym: "meretoja syndrome" EXACT [] synonym: "meretoja type amyloidosis" RELATED [] xref: DOID:0050637 {source="MONDO:equivalentTo"} xref: GARD:0002339 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E85.1 {source="ORDO:85448/attributed", source="ORDO:85448/ntbt", source="Orphanet:85448"} +xref: ICD10CM:E85.1 {source="Orphanet:85448", source="Orphanet:85448/attributed", source="Orphanet:85448/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537459 {source="MONDO:equivalentTo"} -xref: OMIM:105120 {source="ORDO:85448/e", source="MONDO:equivalentTo", source="Orphanet:85448", source="DOID:0050637"} +xref: OMIM:105120 {source="MONDO:equivalentTo", source="Orphanet:85448", source="DOID:0050637", source="Orphanet:85448/e"} xref: Orphanet:85448 {source="OMIM:105120", source="MONDO:equivalentTo"} xref: SCTID:419398009 {source="MONDO:equivalentTo"} xref: UMLS:C0936273 {source="Orphanet:85448", source="MONDO:notFoundInDiseaseSubset"} @@ -125285,11 +125257,11 @@ synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008] xref: DOID:0070027 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E85.4+ {source="ORDO:100008/attributed", source="ORDO:100008/ntbt", source="Orphanet:100008"} -xref: ICD10EXP:I68.0* {source="ORDO:100008/attributed", source="ORDO:100008/ntbt", source="Orphanet:100008"} +xref: ICD10EXP:E85.4+ {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:437.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:105150 {source="DOID:0070027", source="MONDO:equivalentTo", source="Orphanet:100008", source="ORDO:100008/e"} +xref: OMIM:105150 {source="DOID:0070027", source="MONDO:equivalentTo", source="Orphanet:100008", source="Orphanet:100008/e"} xref: Orphanet:100008 {source="MONDO:equivalentTo", source="OMIM:105150"} xref: Orphanet:85458 {source="MONDO:subClassOf", source="OMIM:105150"} xref: SCTID:703220002 {source="MONDO:equivalentTo"} @@ -125326,10 +125298,10 @@ synonym: "Ostertag type amyloidosis" EXACT [DOID:0050636, OMIM:105200] synonym: "systemic nonneuropathic amyloidosis" EXACT [DOID:0050636] xref: DOID:0050636 {source="MONDO:equivalentTo"} xref: GARD:0008282 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.0 {source="ORDO:85450/ntbt", source="ORDO:85450/inclusion", source="Orphanet:85450"} +xref: ICD10CM:E85.0 {source="Orphanet:85450/ntbt", source="Orphanet:85450/inclusion", source="Orphanet:85450"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538249 {source="MONDO:equivalentTo"} -xref: OMIM:105200 {source="MONDO:equivalentTo", source="DOID:0050636", source="ORDO:85450/e", source="Orphanet:85450"} +xref: OMIM:105200 {source="Orphanet:85450/e", source="MONDO:equivalentTo", source="DOID:0050636", source="Orphanet:85450"} xref: Orphanet:85450 {source="OMIM:105200", source="MONDO:equivalentTo"} xref: SCTID:66451004 {source="MONDO:equivalentTo"} xref: UMLS:C0268389 {source="OMIM:105200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -125375,12 +125347,12 @@ xref: DOID:0050638 {source="MONDO:equivalentTo"} xref: DOID:0050761 {source="MONDO:equivalentObsolete"} xref: EFO:0004129 {source="MONDO:equivalentTo"} xref: GARD:0000656 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10EXP:E85.1+ {source="Orphanet:85447", source="ORDO:85447/ntbt", source="ORDO:85447/inclusion"} -xref: ICD10EXP:G63.3* {source="ORDO:85447/e", source="Orphanet:85447", source="ORDO:85447/inclusion"} +xref: ICD10EXP:E85.1+ {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/ntbt"} +xref: ICD10EXP:G63.3* {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/e"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567782 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C84554 {source="EFO:0004129", source="MONDO:equivalentTo"} -xref: OMIM:105210 {source="ORDO:85447/e", source="EFO:0004129", source="MONDO:equivalentTo", source="Orphanet:85447", source="DOID:0050638"} +xref: OMIM:105210 {source="EFO:0004129", source="MONDO:equivalentTo", source="Orphanet:85447", source="DOID:0050638", source="Orphanet:85447/e"} xref: Orphanet:85447 {source="OMIM:105210", source="MONDO:equivalentTo"} xref: Orphanet:85451 {source="OMIM:105210", source="MONDO:superClassOf"} xref: SCTID:42295001 {source="MONDO:equivalentTo"} @@ -125401,11 +125373,11 @@ subset: ordo_disease {source="Orphanet:353220"} synonym: "FPLCA" EXACT ABBREVIATION [Orphanet:353220] synonym: "hereditary primary cutaneous amyloidosis" EXACT [MONDO:patterns/hereditary] synonym: "primary localized cutaneous amyloidosis" RELATED [GARD:0000132] -xref: ICD10EXP:E85.4+ {source="Orphanet:353220", source="ORDO:353220/attributed", source="ORDO:353220/ntbt"} -xref: ICD10EXP:L99.0* {source="Orphanet:353220", source="ORDO:353220/attributed", source="ORDO:353220/ntbt"} +xref: ICD10EXP:E85.4+ {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} +xref: ICD10EXP:L99.0* {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} xref: MESH:C562643 {source="MONDO:equivalentTo"} -xref: OMIM:105250 {source="GARD:0000132", source="Orphanet:353220", source="ORDO:353220/e", source="MONDO:superClassOf", source="DOID:0050639"} -xref: OMIM:613955 {source="GARD:0000132", source="Orphanet:353220", source="MONDO:superClassOf", source="ORDO:353220/btnt", source="DOID:0050639"} +xref: OMIM:105250 {source="GARD:0000132", source="Orphanet:353220", source="Orphanet:353220/e", source="MONDO:superClassOf", source="DOID:0050639"} +xref: OMIM:613955 {source="GARD:0000132", source="Orphanet:353220", source="Orphanet:353220/btnt", source="MONDO:superClassOf", source="DOID:0050639"} xref: OMIMPS:105250 {source="MONDO:equivalentTo"} xref: Orphanet:137807 {source="GARD:0000132", source="MONDO:subClassOf"} xref: Orphanet:353220 {source="MONDO:equivalentTo", source="OMIM:105250"} @@ -125475,8 +125447,8 @@ synonym: "Lytigo-Bodig disease" EXACT [https://doi.org/10.1016/S0140-6736(00)026 synonym: "Parkinsonism-dementia-ALS complex" EXACT [Orphanet:90020] synonym: "PDALS" EXACT ABBREVIATION [Orphanet:90020] xref: GARD:0009239 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G12.2 {source="Orphanet:90020", source="MONDO:relatedTo", source="ORDO:90020/ntbt"} -xref: OMIM:105500 {source="ORDO:90020/e", source="Orphanet:90020", source="MONDO:equivalentTo"} +xref: ICD10CM:G12.2 {source="Orphanet:90020", source="MONDO:relatedTo", source="Orphanet:90020/ntbt"} +xref: OMIM:105500 {source="Orphanet:90020", source="MONDO:equivalentTo", source="Orphanet:90020/e"} xref: Orphanet:90020 {source="MONDO:equivalentTo", source="OMIM:105500"} xref: UMLS:C0543859 {source="Orphanet:90020", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:105500"} is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease @@ -125509,7 +125481,7 @@ xref: Orphanet:275872 {source="MONDO:subClassOf", source="OMIM:105550"} xref: UMLS:C1862937 {source="OMIM:105550", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} xref: UMLS:C3888102 {source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:105550"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:105550", source="ORDO:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:105550", source="Orphanet:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:105550"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0017161 ! frontotemporal dementia with motor neuron disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28337 ! C9orf72 @@ -125586,12 +125558,12 @@ synonym: "dyserythropoietic anemia, congenital, type III" EXACT [OMIM:105600, OM synonym: "Erythroreticulosis, hereditary benign" RELATED [OMIM:105600] xref: DOID:0111399 {source="MONDO:equivalentTo"} xref: GARD:0002002 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="ORDO:98870/attributed", source="ORDO:98870/ntbt", source="Orphanet:98870"} +xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:98870/attributed", source="Orphanet:98870/ntbt", source="Orphanet:98870"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:105600 {source="MONDO:equivalentTo", source="ORDO:98870/e", source="Orphanet:98870"} +xref: OMIM:105600 {source="Orphanet:98870/e", source="MONDO:equivalentTo", source="Orphanet:98870"} xref: Orphanet:98870 {source="MONDO:equivalentTo", source="OMIM:105600"} xref: SCTID:26409005 {source="MONDO:equivalentTo"} -xref: UMLS:C0271934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98870/e", source="Orphanet:98870"} +xref: UMLS:C0271934 {source="NCBI:mim2gene_medline", source="Orphanet:98870/e", source="MONDO:equivalentTo", source="Orphanet:98870"} xref: UMLS:C1413250 {source="OMIM:105600", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1862933 {source="OMIM:105600", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019403 {source="DC-OMIM:105600", source="OMIM:105600", source="Orphanet:98870", source="linkedlifedata"} ! congenital dyserythropoietic anemia @@ -125644,9 +125616,9 @@ name: interventricular septum aneurysm def: "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." [Orphanet:99092] subset: ordo_morphological_anomaly {source="Orphanet:99092"} synonym: "aneurysm of interventricular septum" RELATED [OMIM:105805] -xref: ICD10CM:Q21.0 {source="Orphanet:99092", source="ORDO:99092/attributed", source="ORDO:99092/ntbt"} +xref: ICD10CM:Q21.0 {source="Orphanet:99092/attributed", source="Orphanet:99092/ntbt", source="Orphanet:99092"} xref: MESH:C563239 {source="MONDO:equivalentTo"} -xref: OMIM:105805 {source="ORDO:99092/e", source="Orphanet:99092", source="MONDO:equivalentTo"} +xref: OMIM:105805 {source="Orphanet:99092", source="MONDO:equivalentTo", source="Orphanet:99092/e"} xref: Orphanet:99092 {source="MONDO:equivalentTo", source="OMIM:105805"} xref: UMLS:C1387721 {source="Orphanet:99092", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105805"} is_a: MONDO:0018771 {source="Orphanet:99092"} ! congenital anomaly of ventricular septum @@ -125666,17 +125638,17 @@ synonym: "happy puppet syndrome, formerly" RELATED DEPRECATED [OMIM:105830] synonym: "puppetlike syndrome" EXACT DEPRECATED [DOID:1932] xref: DOID:1932 {source="MONDO:equivalentTo"} xref: GARD:0005810 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:72/inclusion", source="DOID:1932", source="Orphanet:72", source="ORDO:72/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:72/ntbt", source="DOID:1932", source="Orphanet:72/inclusion", source="Orphanet:72"} xref: ICD10CM:Q93.51 {source="MONDO:equivalentTo", source="https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049004 {source="Orphanet:72", source="ORDO:72/e"} +xref: MedDRA:10049004 {source="Orphanet:72/e", source="Orphanet:72"} xref: MESH:C531619 {source="MONDO:equivalentTo"} -xref: MESH:D017204 {source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72", source="ORDO:72/e"} +xref: MESH:D017204 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72"} xref: NCIT:C75462 {source="MONDO:equivalentTo", source="DOID:1932"} -xref: OMIM:105830 {source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72", source="ORDO:72/e"} +xref: OMIM:105830 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72"} xref: Orphanet:72 {source="MONDO:equivalentTo", source="OMIM:105830"} xref: SCTID:76880004 {source="MONDO:equivalentTo", source="DOID:1932"} -xref: UMLS:C0162635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105830", source="NCIT:C75462", source="DOID:1932", source="Orphanet:72", source="ORDO:72/e"} +xref: UMLS:C0162635 {source="Orphanet:72/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:105830", source="NCIT:C75462", source="DOID:1932", source="Orphanet:72"} xref: UMLS:C1412397 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:105830"} is_a: MONDO:0000508 {source="Orphanet:72"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75462", source="indirect"} ! syndromic disease @@ -125697,10 +125669,10 @@ synonym: "Angel shaped phalangoepiphyseal dysplasia" RELATED [GARD:0000671] synonym: "ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:105835] synonym: "ASPED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105835, Orphanet:63442] xref: GARD:0000671 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="Orphanet:63442", source="ORDO:63442/attributed", source="ORDO:63442/ntbt"} -xref: MedDRA:10066017 {source="Orphanet:63442", source="ORDO:63442/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:63442", source="Orphanet:63442/attributed", source="Orphanet:63442/ntbt"} +xref: MedDRA:10066017 {source="Orphanet:63442", source="Orphanet:63442/e"} xref: MESH:C536361 {source="MONDO:equivalentTo"} -xref: OMIM:105835 {source="Orphanet:63442", source="MONDO:equivalentTo", source="ORDO:63442/e"} +xref: OMIM:105835 {source="Orphanet:63442", source="MONDO:equivalentTo", source="Orphanet:63442/e"} xref: Orphanet:63442 {source="MONDO:equivalentTo", source="OMIM:105835"} xref: SCTID:720984008 {source="MONDO:equivalentTo"} xref: UMLS:C1739384 {source="Orphanet:63442", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:105835"} @@ -125734,11 +125706,11 @@ synonym: "hereditary neurocutaneous angioma" EXACT [GARD:0000676] synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062] synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070] xref: GARD:0000676 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D18.0 {source="Orphanet:1062", source="ORDO:1062/attributed", source="ORDO:1062/ntbt"} -xref: MESH:C536364 {source="Orphanet:1062", source="ORDO:1062/e"} -xref: OMIM:106070 {source="MONDO:equivalentTo", source="Orphanet:1062", source="ORDO:1062/e"} +xref: ICD10CM:D18.0 {source="Orphanet:1062/attributed", source="Orphanet:1062/ntbt", source="Orphanet:1062"} +xref: MESH:C536364 {source="Orphanet:1062/e", source="Orphanet:1062"} +xref: OMIM:106070 {source="Orphanet:1062/e", source="MONDO:equivalentTo", source="Orphanet:1062"} xref: Orphanet:1062 {source="MONDO:equivalentTo", source="OMIM:106070"} -xref: UMLS:C1275084 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:106070", source="Orphanet:1062", source="ORDO:1062/e"} +xref: UMLS:C1275084 {source="Orphanet:1062/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:106070", source="Orphanet:1062"} xref: UMLS:C1862897 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:106070"} xref: UMLS:C1862898 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:106070"} is_a: MONDO:0015145 {source="Orphanet:1062"} ! neurovascular malformation @@ -125789,10 +125761,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:250923"} subset: prototype_pattern synonym: "aniridia without systemic involvement" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK1360/] synonym: "nonsyndromic aniridia" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q13.1 {source="ORDO:250923/attributed", source="ORDO:250923/ntbt", source="Orphanet:250923"} -xref: OMIM:106210 {source="MONDO:superClassOf", source="Orphanet:250923", source="ORDO:250923/e"} -xref: OMIM:617141 {source="MONDO:superClassOf", source="ORDO:250923/btnt", source="Orphanet:250923"} -xref: OMIM:617142 {source="MONDO:superClassOf", source="ORDO:250923/btnt", source="Orphanet:250923"} +xref: ICD10CM:Q13.1 {source="Orphanet:250923/attributed", source="Orphanet:250923/ntbt", source="Orphanet:250923"} +xref: OMIM:106210 {source="Orphanet:250923/e", source="MONDO:superClassOf", source="Orphanet:250923"} +xref: OMIM:617141 {source="MONDO:superClassOf", source="Orphanet:250923/btnt", source="Orphanet:250923"} +xref: OMIM:617142 {source="MONDO:superClassOf", source="Orphanet:250923/btnt", source="Orphanet:250923"} xref: OMIMPS:106210 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:250923 {source="OMIM:106210", source="MONDO:equivalentTo"} xref: UMLS:C0003076 {source="MONDO:subClassOf", source="Orphanet:250923"} @@ -125813,9 +125785,9 @@ synonym: "aniridia absent patella" RELATED [GARD:0000685] synonym: "aniridia and absent patella" RELATED [OMIM:106220] synonym: "familial syndrome of aniridia and absence of the patella" RELATED [GARD:0000685] xref: GARD:0000685 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1069", source="ORDO:1069/attributed", source="ORDO:1069/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1069/attributed", source="Orphanet:1069/ntbt", source="Orphanet:1069"} xref: MESH:C566281 {source="MONDO:equivalentTo"} -xref: OMIM:106220 {source="ORDO:1069/e", source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo"} +xref: OMIM:106220 {source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo", source="Orphanet:1069/e"} xref: Orphanet:1069 {source="OMIM:106220", source="GARD:0000685", source="MONDO:equivalentTo"} xref: UMLS:C1862868 {source="OMIM:106220", source="GARD:0000685", source="NCBI:mim2gene_medline", source="Orphanet:1069", source="MONDO:equivalentTo"} is_a: MONDO:0020148 {source="Orphanet:1069"} ! syndromic aniridia @@ -125857,9 +125829,9 @@ synonym: "ankyloblepharon filiforme adnatum cleft palate" RELATED [GARD:0000696] synonym: "ankyloblepharon filiforme congenitum" RELATED [GARD:0000696] synonym: "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" RELATED [GARD:0000696] xref: GARD:0000696 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:1072/attributed", source="ORDO:1072/ntbt", source="Orphanet:1072"} -xref: MESH:C536373 {source="MONDO:equivalentTo", source="ORDO:1072/e", source="Orphanet:1072"} -xref: OMIM:106250 {source="MONDO:equivalentTo", source="ORDO:1072/e", source="Orphanet:1072"} +xref: ICD10CM:Q87.0 {source="Orphanet:1072/attributed", source="Orphanet:1072/ntbt", source="Orphanet:1072"} +xref: MESH:C536373 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"} +xref: OMIM:106250 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"} xref: Orphanet:1072 {source="MONDO:equivalentTo", source="OMIM:106250"} xref: SCTID:400952003 {source="MONDO:equivalentTo"} xref: UMLS:C1302999 {source="MONDO:equivalentTo", source="Orphanet:1072"} @@ -125886,14 +125858,14 @@ synonym: "Seres-Santamaria Arimany Muniz syndrome" RELATED [GARD:0004805] xref: DOID:0090119 {source="MONDO:equivalentTo"} xref: GARD:0004805 {source="MONDO:equivalentTo"} xref: GARD:0006571 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.4 {source="ORDO:1071/attributed", source="ORDO:1071/ntbt", source="Orphanet:1071", source="DOID:0090119"} -xref: MESH:C535289 {source="MONDO:superClassOf", source="Orphanet:1071", source="ORDO:1071/e", source="DOID:0090119"} +xref: ICD10CM:Q82.4 {source="Orphanet:1071", source="Orphanet:1071/attributed", source="Orphanet:1071/ntbt", source="DOID:0090119"} +xref: MESH:C535289 {source="Orphanet:1071/e", source="MONDO:superClassOf", source="Orphanet:1071", source="DOID:0090119"} xref: MESH:C535847 {source="MONDO:equivalentTo"} -xref: OMIM:106260 {source="MONDO:equivalentTo", source="Orphanet:1071", source="GARD:0004805", source="ORDO:1071/e", source="DOID:0090119"} +xref: OMIM:106260 {source="Orphanet:1071/e", source="MONDO:equivalentTo", source="Orphanet:1071", source="GARD:0004805", source="DOID:0090119"} xref: Orphanet:1071 {source="MONDO:equivalentTo", source="DOID:0090119", source="OMIM:106260"} xref: SCTID:55821006 {source="MONDO:equivalentTo"} xref: UMLS:C0406709 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:106260"} -xref: UMLS:C1785148 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1071", source="ORDO:1071/e", source="DOID:0090119"} +xref: UMLS:C1785148 {source="Orphanet:1071/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1071", source="DOID:0090119"} xref: UMLS:C2931539 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0004805"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -125964,12 +125936,12 @@ synonym: "Forestier's disease" EXACT [NCIT:C84671] xref: DOID:6652 {source="EFO:0007236", source="MONDO:equivalentTo"} xref: EFO:0007236 {source="MONDO:equivalentTo"} xref: GARD:0000842 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M48.1 {source="DOID:6652", source="ORDO:2206/attributed", source="ORDO:2206/ntbt", source="Orphanet:2206"} +xref: ICD10CM:M48.1 {source="DOID:6652", source="Orphanet:2206", source="Orphanet:2206/attributed", source="Orphanet:2206/ntbt"} xref: ICD9:721.6 {source="DOID:6652", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D004057 {source="EFO:0007236", source="DOID:6652", source="MONDO:equivalentTo"} xref: NCIT:C84671 {source="DOID:6652", source="MONDO:equivalentTo"} -xref: OMIM:106400 {source="DOID:6652", source="MONDO:equivalentTo", source="ORDO:2206/e", source="Orphanet:2206"} +xref: OMIM:106400 {source="DOID:6652", source="MONDO:equivalentTo", source="Orphanet:2206", source="Orphanet:2206/e"} xref: Orphanet:2206 {source="OMIM:106400", source="MONDO:equivalentTo"} xref: SCTID:31487001 {source="DOID:6652", source="MONDO:equivalentTo"} xref: SCTID:55815007 {source="DOID:6652"} @@ -126035,13 +126007,13 @@ synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297] synonym: "total anomalous pulmonary VENOUS return 1" RELATED [MONDO:Lexical, OMIM:106700] xref: DOID:4297 {source="EFO:1001167", source="MONDO:equivalentTo"} xref: EFO:1001167 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q26.2 {source="Orphanet:99125", source="ORDO:99125/e", source="DOID:4297"} +xref: ICD10CM:Q26.2 {source="Orphanet:99125", source="Orphanet:99125/e", source="DOID:4297"} xref: ICD10CM:Q26.8 {source="DOID:4297"} xref: ICD9:747.41 {source="MONDO:equivalentTo", source="i2s", source="DOID:4297"} xref: MESH:D012587 {source="EFO:1001167", source="MONDO:directSiblingOf", source="DOID:4297"} xref: NCIT:C85056 {source="EFO:1001167", source="MONDO:directSiblingOf", source="DOID:4297"} xref: NCIT:C98585 {source="MONDO:equivalentTo", source="DOID:4297"} -xref: OMIM:106700 {source="Orphanet:99125", source="MONDO:equivalentTo", source="ORDO:99125/e", source="DOID:4297"} +xref: OMIM:106700 {source="Orphanet:99125", source="MONDO:equivalentTo", source="Orphanet:99125/e", source="DOID:4297"} xref: Orphanet:99125 {source="MONDO:equivalentTo", source="OMIM:106700"} xref: SCTID:111323005 {source="MONDO:equivalentTo", source="DOID:4297"} xref: SCTID:204458000 {source="DOID:4297"} @@ -126061,7 +126033,7 @@ def: "Anonychia with flexural pigmentation is characterised by anonychia and ski subset: ordo_malformation_syndrome {source="Orphanet:69125"} synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750] xref: MESH:C566278 {source="MONDO:equivalentTo"} -xref: OMIM:106750 {source="MONDO:equivalentTo", source="ORDO:69125/e", source="Orphanet:69125"} +xref: OMIM:106750 {source="Orphanet:69125/e", source="MONDO:equivalentTo", source="Orphanet:69125"} xref: Orphanet:69125 {source="OMIM:106750", source="MONDO:equivalentTo"} xref: UMLS:C1862844 {source="OMIM:106750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69125"} is_a: MONDO:0019285 {source="Orphanet:69125"} ! syndromic nail anomaly @@ -126107,9 +126079,9 @@ synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalang synonym: "Cooks syndrome" EXACT CLINGEN_PREFERRED [OMIM:106995] synonym: "ODP" EXACT ABBREVIATION [Orphanet:1487] xref: GARD:0004083 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q84.6 {source="Orphanet:1487", source="ORDO:1487/attributed", source="ORDO:1487/ntbt"} +xref: ICD10CM:Q84.6 {source="Orphanet:1487/attributed", source="Orphanet:1487/ntbt", source="Orphanet:1487"} xref: MESH:C537766 {source="MONDO:equivalentTo"} -xref: OMIM:106995 {source="ORDO:1487/e", source="Orphanet:1487", source="MONDO:equivalentTo"} +xref: OMIM:106995 {source="Orphanet:1487", source="MONDO:equivalentTo", source="Orphanet:1487/e"} xref: Orphanet:1487 {source="OMIM:106995", source="MONDO:equivalentTo"} xref: SCTID:720747002 {source="MONDO:equivalentTo"} xref: UMLS:C1862841 {source="OMIM:106995", source="NCBI:mim2gene_medline", source="Orphanet:1487", source="MONDO:equivalentTo"} @@ -126135,9 +126107,9 @@ xref: Orphanet:79143 {source="MONDO:subClassOf", source="OMIM:107000"} xref: Orphanet:90390 {source="MONDO:directSiblingOf", source="OMIM:107000"} xref: UMLS:C1862840 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C3275544 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:107000"} -is_a: MONDO:0019211 {source="ORDO:79143/btnt"} ! isolated congenital anonychia +is_a: MONDO:0019211 {source="Orphanet:79143/btnt"} ! isolated congenital anonychia is_a: MONDO:0019284 {source="DC-OMIM:107000", source="OMIM:107000", source="indirect"} ! inherited isolated nail anomaly -relationship: excluded_subClassOf MONDO:0019577 {source="ORDO:90390/btnt"} ! anonychia-onychodystrophy syndrome +relationship: excluded_subClassOf MONDO:0019577 {source="Orphanet:90390/btnt"} ! anonychia-onychodystrophy syndrome relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "0.1666666666666663" xsd:double @@ -126165,9 +126137,9 @@ synonym: "anosmia, congenital" RELATED [OMIM:107200] synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical, OMIM:107200] synonym: "congenital anosmia" RELATED [GARD:0009486] xref: GARD:0009486 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q07.8 {source="Orphanet:88620", source="ORDO:88620/attributed", source="ORDO:88620/ntbt"} +xref: ICD10CM:Q07.8 {source="Orphanet:88620", source="Orphanet:88620/attributed", source="Orphanet:88620/ntbt"} xref: MESH:C535983 {source="MONDO:equivalentTo"} -xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source="ORDO:88620/e"} +xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source="Orphanet:88620/e"} xref: Orphanet:88620 {source="OMIM:107200", source="MONDO:equivalentTo"} xref: SCTID:230502003 {source="MONDO:equivalentTo"} xref: UMLS:C0393778 {source="OMIM:107200", source="Orphanet:88620", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -126252,16 +126224,16 @@ synonym: "Townes-Brocks syndrome 1" RELATED [OMIM:107480] synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480] xref: DOID:0050887 {source="MONDO:equivalentTo"} xref: GARD:0007784 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:857", source="ORDO:857/attributed", source="ORDO:857/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:857", source="Orphanet:857/attributed", source="Orphanet:857/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536974 {source="ORDO:857/e", source="MONDO:equivalentTo", source="Orphanet:857"} +xref: MESH:C536974 {source="MONDO:equivalentTo", source="Orphanet:857", source="Orphanet:857/e"} xref: NCIT:C99085 {source="MONDO:equivalentTo"} -xref: OMIM:107480 {source="ORDO:857/e", source="DOID:0050887", source="MONDO:superClassOf", source="Orphanet:857"} +xref: OMIM:107480 {source="DOID:0050887", source="MONDO:superClassOf", source="Orphanet:857", source="Orphanet:857/e"} xref: OMIM:617466 {source="MONDO:superClassOf", source="Orphanet:857"} xref: OMIMPS:107480 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:857 {source="MONDO:equivalentTo", source="OMIM:107480"} xref: SCTID:24750000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265246 {source="NCIT:C99085", source="ORDO:857/e", source="MONDO:equivalentTo", source="Orphanet:857", source="OMIM:107480"} +xref: UMLS:C0265246 {source="NCIT:C99085", source="MONDO:equivalentTo", source="Orphanet:857", source="OMIM:107480", source="Orphanet:857/e"} xref: UMLS:C1862683 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:107480"} xref: UMLS:CN034849 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050887", source="MONDO:Redundant"} ! autosomal dominant disease @@ -126290,11 +126262,11 @@ synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELAT synonym: "aortic arch anomaly-peculiar facies-intellectual disability syndrome" RELATED [GARD:0000739] synonym: "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" RELATED [GARD:0000739] xref: GARD:0000739 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1110", source="ORDO:1110/attributed", source="ORDO:1110/ntbt"} -xref: MESH:C537785 {source="Orphanet:1110", source="ORDO:1110/e", source="MONDO:equivalentTo"} -xref: OMIM:107500 {source="Orphanet:1110", source="ORDO:1110/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:1110", source="Orphanet:1110/attributed", source="Orphanet:1110/ntbt"} +xref: MESH:C537785 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"} +xref: OMIM:107500 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"} xref: Orphanet:1110 {source="OMIM:107500", source="MONDO:equivalentTo"} -xref: UMLS:C1862682 {source="Orphanet:1110", source="ORDO:1110/e", source="NCBI:mim2gene_medline", source="OMIM:107500", source="MONDO:equivalentTo"} +xref: UMLS:C1862682 {source="Orphanet:1110", source="NCBI:mim2gene_medline", source="OMIM:107500", source="MONDO:equivalentTo", source="Orphanet:1110/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1110", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1110"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -126327,10 +126299,10 @@ synonym: "scalp defect, congenital" RELATED [OMIM:107600] xref: GARD:0000755 {source="MONDO:equivalentTo"} xref: GARD:0005835 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0001057 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q84.8 {source="Orphanet:1114", source="ORDO:1114/attributed", source="ORDO:1114/ntbt"} +xref: ICD10CM:Q84.8 {source="Orphanet:1114/attributed", source="Orphanet:1114/ntbt", source="Orphanet:1114"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C98822 {source="MONDO:equivalentTo"} -xref: OMIM:107600 {source="Orphanet:1114", source="ORDO:1114/e", source="MONDO:equivalentTo"} +xref: OMIM:107600 {source="Orphanet:1114", source="MONDO:equivalentTo", source="Orphanet:1114/e"} xref: Orphanet:1114 {source="OMIM:107600", source="MONDO:equivalentTo"} xref: SCTID:35484002 {source="MONDO:equivalentTo"} xref: UMLS:C0282160 {source="OMIM:107600", source="Orphanet:1114", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C98822"} @@ -126505,13 +126477,13 @@ synonym: "intracranial hemorrhage in brain arteriovenous malformations, suscepti synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [OMIM:108010, OMIM:genemap2] xref: DOID:0060688 {source="MONDO:equivalentTo"} xref: GARD:0003020 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q28.2 {source="Orphanet:46724", source="DOID:0060688", source="ORDO:46724/attributed", source="ORDO:46724/ntbt"} -xref: MESH:D002538 {source="ORDO:46724/e", source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo"} +xref: ICD10CM:Q28.2 {source="Orphanet:46724", source="Orphanet:46724/attributed", source="Orphanet:46724/ntbt", source="DOID:0060688"} +xref: MESH:D002538 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} xref: NCIT:C2936 {source="MONDO:equivalentTo"} -xref: OMIM:108010 {source="ORDO:46724/e", source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo"} +xref: OMIM:108010 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} xref: Orphanet:46724 {source="DOID:0060688", source="MONDO:equivalentTo", source="OMIM:108010"} xref: SCTID:234142008 {source="MONDO:equivalentTo"} -xref: UMLS:C0007772 {source="ORDO:46724/e", source="Orphanet:46724", source="NCIT:C2936", source="DOID:0060688", source="MONDO:equivalentTo"} +xref: UMLS:C0007772 {source="Orphanet:46724", source="NCIT:C2936", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"} xref: UMLS:C0917804 {source="Orphanet:46724", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:108010"} xref: UMLS:C2676095 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:108010"} is_a: MONDO:0001256 {source="DOID:0060688", source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936", source="Orphanet:46724", source="indirect"} ! arteriovenous hemangioma/malformation @@ -126581,12 +126553,12 @@ synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [GARD:0004047, Orphanet:1154] synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154] xref: GARD:0004047 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="Orphanet:1154", source="ORDO:1154/attributed", source="ORDO:1154/ntbt"} -xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="ORDO:1154/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q68.8 {source="Orphanet:1154", source="Orphanet:1154/attributed", source="Orphanet:1154/ntbt"} +xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="MONDO:equivalentTo", source="Orphanet:1154/e"} xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo"} xref: SCTID:715217004 {source="MONDO:equivalentTo"} -xref: UMLS:C1834523 {source="Orphanet:1154", source="ORDO:1154/e", source="MONDO:superClassOf"} -xref: UMLS:C1862472 {source="Orphanet:1154", source="GARD:0004047", source="OMIM:108145", source="ORDO:1154/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1834523 {source="Orphanet:1154", source="Orphanet:1154/e", source="MONDO:superClassOf"} +xref: UMLS:C1862472 {source="Orphanet:1154", source="GARD:0004047", source="OMIM:108145", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1154/e"} is_a: MONDO:0019942 {source="DC-OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26270 {source="mim2gene_medgen"} ! PIEZO2 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 xsd:anyURI {source="GARD:0004047"} @@ -126603,12 +126575,12 @@ synonym: "DA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108200] synonym: "distal arthrogryposis type 6" EXACT [Orphanet:1144] synonym: "familial hand abnormality and sensori-neural deafness" RELATED [GARD:0000784] xref: GARD:0000784 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q68.8 {source="Orphanet:1144", source="ORDO:1144/attributed", source="ORDO:1144/ntbt"} -xref: MESH:C535386 {source="ORDO:1144/e", source="Orphanet:1144", source="MONDO:equivalentTo"} -xref: OMIM:108200 {source="ORDO:1144/e", source="Orphanet:1144", source="MONDO:equivalentTo"} +xref: ICD10CM:Q68.8 {source="Orphanet:1144/attributed", source="Orphanet:1144/ntbt", source="Orphanet:1144"} +xref: MESH:C535386 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"} +xref: OMIM:108200 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"} xref: Orphanet:1144 {source="OMIM:108200", source="MONDO:equivalentTo"} xref: SCTID:720515009 {source="MONDO:equivalentTo"} -xref: UMLS:C1862471 {source="ORDO:1144/e", source="OMIM:108200", source="Orphanet:1144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1862471 {source="OMIM:108200", source="Orphanet:1144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1144/e"} is_a: MONDO:0019589 {source="Orphanet:1144"} ! syndromic genetic hearing loss is_a: MONDO:0019942 {source="DC-OMIM:108200", source="Orphanet:1144"} ! distal arthrogryposis property_value: confidence "25.875" xsd:double @@ -126625,10 +126597,10 @@ synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical, OMIM:108300] synonym: "Stickler syndrome, vitreous type 1" RELATED [OMIM:108300] synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108300] xref: GARD:0005018 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.5 {source="ORDO:90653/attributed", source="ORDO:90653/ntbt", source="Orphanet:90653"} -xref: MESH:C537492 {source="MONDO:equivalentTo", source="ORDO:90653/e", source="Orphanet:90653"} -xref: OMIM:108300 {source="MONDO:equivalentTo", source="ORDO:90653/e", source="Orphanet:90653"} -xref: OMIM:609508 {source="ORDO:90653/btnt", source="MONDO:superClassOf", source="Orphanet:90653"} +xref: ICD10CM:Q87.5 {source="Orphanet:90653", source="Orphanet:90653/attributed", source="Orphanet:90653/ntbt"} +xref: MESH:C537492 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} +xref: OMIM:108300 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} +xref: OMIM:609508 {source="MONDO:superClassOf", source="Orphanet:90653", source="Orphanet:90653/btnt"} xref: Orphanet:828 {source="MONDO:subClassOf", source="OMIM:108300"} xref: Orphanet:90653 {source="OMIM:108300", source="MONDO:equivalentTo"} xref: UMLS:C2020284 {source="OMIM:108300", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90653"} @@ -126648,7 +126620,7 @@ xref: OMIM:108420 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:108420"} xref: UMLS:C1862459 {source="OMIM:108420", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004983 {source="DC-OMIM:108420", source="OMIM:108420"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: confidence "0.18928571428571428" xsd:double [Term] @@ -126686,12 +126658,12 @@ synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602] xref: DOID:0050990 {source="MONDO:equivalentTo"} xref: GARD:0009602 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:97", source="ORDO:97/attributed", source="ORDO:97/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:97", source="Orphanet:97/attributed", source="Orphanet:97/ntbt"} xref: MESH:C535506 {source="MONDO:equivalentTo"} -xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:equivalentTo", source="ORDO:97/e"} +xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:equivalentTo", source="Orphanet:97/e"} xref: Orphanet:97 {source="OMIM:108500", source="MONDO:equivalentTo"} xref: SCTID:420932006 {source="MONDO:equivalentTo"} -xref: UMLS:C1720416 {source="Orphanet:97", source="OMIM:108500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:97/e"} +xref: UMLS:C1720416 {source="Orphanet:97", source="OMIM:108500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97/e"} is_a: MONDO:0016227 {source="DOID:0050990", source="MONDO:Redundant", source="OMIM:108500", source="Orphanet:97", source="linkedlifedata"} ! hereditary episodic ataxia intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 ! CACNA1A @@ -126710,9 +126682,9 @@ synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1] synonym: "SPAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108600, Orphanet:251282] synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050772 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="Orphanet:251282", source="MONDO:relatedTo", source="ORDO:251282/attributed", source="ORDO:251282/ntbt"} +xref: ICD10CM:G11.4 {source="Orphanet:251282", source="MONDO:relatedTo", source="Orphanet:251282/attributed", source="Orphanet:251282/ntbt"} xref: MESH:C566993 {source="MONDO:equivalentTo"} -xref: OMIM:108600 {source="Orphanet:251282", source="DOID:0050772", source="MONDO:equivalentTo", source="ORDO:251282/e"} +xref: OMIM:108600 {source="Orphanet:251282", source="DOID:0050772", source="MONDO:equivalentTo", source="Orphanet:251282/e"} xref: Orphanet:251282 {source="OMIM:108600", source="MONDO:equivalentTo"} xref: UMLS:C1970107 {source="Orphanet:251282", source="NCBI:mim2gene_medline", source="OMIM:108600", source="MONDO:equivalentTo"} is_a: MONDO:0017845 {source="DOID:0050772", source="MONDO:Redundant", source="OMIM:108600", source="Orphanet:251282/inferred"} ! spastic ataxia @@ -126734,9 +126706,9 @@ synonym: "spastic ataxia type 7" EXACT [DOID:0050945, MONDORULE:1] synonym: "spastic ataxia with congenital miosis" RELATED [OMIM:108650] synonym: "SPAX7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108650, Orphanet:1182] xref: DOID:0050945 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="ORDO:1182/attributed", source="ORDO:1182/ntbt", source="MONDO:relatedTo", source="Orphanet:1182"} +xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:1182/attributed", source="Orphanet:1182/ntbt", source="Orphanet:1182"} xref: MESH:C566247 {source="MONDO:equivalentTo"} -xref: OMIM:108650 {source="MONDO:equivalentTo", source="ORDO:1182/e", source="DOID:0050945", source="Orphanet:1182"} +xref: OMIM:108650 {source="Orphanet:1182/e", source="MONDO:equivalentTo", source="DOID:0050945", source="Orphanet:1182"} xref: Orphanet:1182 {source="MONDO:equivalentTo", source="OMIM:108650"} xref: SCTID:763669001 {source="MONDO:equivalentTo"} xref: UMLS:C1862441 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1182", source="OMIM:108650"} @@ -126768,12 +126740,12 @@ synonym: "giant cell chondrodysplasia" EXACT [OMIM:108720, Orphanet:1190] synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190] synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720] xref: GARD:0009287 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:1190/attributed", source="ORDO:1190/ntbt", source="Orphanet:1190"} -xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="ORDO:1190/e"} -xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="ORDO:1190/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:1190", source="Orphanet:1190/attributed", source="Orphanet:1190/ntbt"} +xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} +xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} xref: Orphanet:1190 {source="OMIM:108720", source="MONDO:equivalentTo"} xref: SCTID:725141006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265283 {source="OMIM:108720", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1190", source="ORDO:1190/e"} +xref: UMLS:C0265283 {source="OMIM:108720", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1190", source="Orphanet:1190/e"} is_a: MONDO:0000389 {source="DC-OMIM:108720", source="OMIM:108720"} ! atelosteogenesis is_a: MONDO:0018187 ! genetic syndromic Pierre Robin syndrome is_a: MONDO:0019690 {source="Orphanet:1190"} ! filamin-related bone disorder @@ -126793,9 +126765,9 @@ synonym: "atelosteogenesis type 3" EXACT [Orphanet:56305] synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721] synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721] xref: GARD:0010608 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="Orphanet:56305", source="ORDO:56305/attributed", source="ORDO:56305/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:56305", source="Orphanet:56305/attributed", source="Orphanet:56305/ntbt"} xref: MESH:C579928 {source="MONDO:equivalentTo"} -xref: OMIM:108721 {source="ORDO:56305/e", source="Orphanet:56305", source="MONDO:equivalentTo"} +xref: OMIM:108721 {source="Orphanet:56305", source="MONDO:equivalentTo", source="Orphanet:56305/e"} xref: Orphanet:56305 {source="OMIM:108721", source="MONDO:equivalentTo"} xref: SCTID:725142004 {source="MONDO:equivalentTo"} xref: UMLS:C1862414 {source="OMIM:108721", source="MONDO:notFoundInDiseaseSubset"} @@ -126830,7 +126802,7 @@ xref: OMIM:108760 {source="MONDO:equivalentTo"} xref: Orphanet:141074 {source="MONDO:subClassOf", source="OMIM:108760"} xref: UMLS:C1862395 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3276095 {source="MONDO:equivalentTo", source="OMIM:108760"} -is_a: MONDO:0015385 {source="ORDO:141074/btnt"} ! external auditory canal aplasia/hypoplasia +is_a: MONDO:0015385 {source="Orphanet:141074/btnt"} ! external auditory canal aplasia/hypoplasia property_value: confidence "39.49999999999994" xsd:double [Term] @@ -126892,8 +126864,8 @@ synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [ synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112] synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110112 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.1 {source="ORDO:1479/attributed", source="ORDO:1479/ntbt", source="Orphanet:1479", source="DOID:0110112"} -xref: OMIM:108900 {source="MONDO:equivalentTo", source="Orphanet:1479", source="ORDO:1479/e", source="DOID:0110112"} +xref: ICD10CM:Q21.1 {source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/attributed", source="Orphanet:1479/ntbt"} +xref: OMIM:108900 {source="MONDO:equivalentTo", source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/e"} xref: Orphanet:1479 {source="MONDO:equivalentTo", source="OMIM:108900", source="DOID:0110112"} xref: UMLS:C1862388 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3276096 {source="OMIM:108900", source="MONDO:notFoundInDiseaseSubset"} @@ -126911,19 +126883,19 @@ id: MONDO:0007174 name: Lown-Ganong-Levine syndrome def: "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." [Orphanet:844] subset: ordo_disease {source="Orphanet:844"} -synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, ORDO:844] +synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, Orphanet:844] synonym: "LGL syndrome" EXACT [Orphanet:844] synonym: "Lown-Ganong-Levine syndrome" EXACT [Orphanet:844] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [DOID:13087] xref: DOID:13087 {source="MONDO:equivalentTo"} -xref: ICD10CM:I45.6 {source="Orphanet:844", source="DOID:13087", source="ORDO:844/inclusion", source="ORDO:844/ntbt"} +xref: ICD10CM:I45.6 {source="Orphanet:844/inclusion", source="Orphanet:844/ntbt", source="Orphanet:844", source="DOID:13087"} xref: ICD9:426.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:13087"} -xref: MedDRA:10024984 {source="ORDO:844/e", source="Orphanet:844"} +xref: MedDRA:10024984 {source="Orphanet:844", source="Orphanet:844/e"} xref: MESH:D008151 {source="MONDO:equivalentTo", source="DOID:13087"} -xref: OMIM:108950 {source="ORDO:844/e", source="Orphanet:844", source="MONDO:equivalentTo"} +xref: OMIM:108950 {source="Orphanet:844", source="MONDO:equivalentTo", source="Orphanet:844/e"} xref: Orphanet:844 {source="OMIM:108950", source="MONDO:equivalentTo", source="DOID:13087"} xref: SCTID:55475008 {source="MONDO:equivalentTo", source="DOID:13087"} -xref: UMLS:C0024054 {source="ORDO:844/e", source="Orphanet:844", source="MONDO:equivalentTo", source="DOID:13087"} +xref: UMLS:C0024054 {source="Orphanet:844", source="MONDO:equivalentTo", source="DOID:13087", source="Orphanet:844/e"} xref: UMLS:C1862387 {source="OMIM:108950", source="NCBI:mim2gene_medline", source="Orphanet:844", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:13087"} ! syndromic disease is_a: MONDO:0015110 {source="Orphanet:844"} ! genetic cardiac rhythm disease @@ -126952,9 +126924,9 @@ synonym: "SCRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108985, Orphanet:86813] synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:108985] synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813] xref: DOID:0111228 {source="MONDO:equivalentTo"} -xref: ICD10CM:H31.2 {source="ORDO:86813/attributed", source="ORDO:86813/ntbt", source="Orphanet:86813"} +xref: ICD10CM:H31.2 {source="Orphanet:86813", source="Orphanet:86813/attributed", source="Orphanet:86813/ntbt"} xref: MESH:C566236 {source="MONDO:equivalentTo"} -xref: OMIM:108985 {source="ORDO:86813/e", source="MONDO:equivalentTo", source="Orphanet:86813"} +xref: OMIM:108985 {source="MONDO:equivalentTo", source="Orphanet:86813", source="Orphanet:86813/e"} xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"} xref: SCTID:724384008 {source="MONDO:equivalentTo"} xref: UMLS:C1862382 {source="NCBI:mim2gene_medline", source="OMIM:108985", source="MONDO:equivalentTo", source="Orphanet:86813"} @@ -126972,11 +126944,11 @@ synonym: "auriculo-osteodysplasia" RELATED [GARD:0008663] synonym: "auriculoosteodysplasia" EXACT [OMIM:109000] synonym: "multiple osseous dysplasia, characteristic ear shape, and short stature" RELATED [GARD:0008663] xref: GARD:0008663 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="Orphanet:114", source="ORDO:114/attributed", source="ORDO:114/ntbt"} -xref: MESH:C538271 {source="Orphanet:114", source="MONDO:equivalentTo", source="ORDO:114/e"} -xref: OMIM:109000 {source="Orphanet:114", source="MONDO:equivalentTo", source="ORDO:114/e"} +xref: ICD10CM:Q87.5 {source="Orphanet:114", source="Orphanet:114/attributed", source="Orphanet:114/ntbt"} +xref: MESH:C538271 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"} +xref: OMIM:109000 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"} xref: Orphanet:114 {source="MONDO:equivalentTo", source="OMIM:109000"} -xref: UMLS:C1862381 {source="Orphanet:114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109000", source="ORDO:114/e"} +xref: UMLS:C1862381 {source="Orphanet:114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:114/e", source="OMIM:109000"} is_a: MONDO:0002081 {source="GARD:0008663"} ! musculoskeletal system disorder relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:114"} ! obsolete primary bone dysplasia with multiple joint dislocations property_value: confidence "8.375" xsd:double @@ -127075,11 +127047,11 @@ synonym: "spinocerebellar atrophy type 3" RELATED [GARD:0006801] synonym: "Spinopontine atrophy" RELATED [OMIM:109150] xref: DOID:1440 {source="MONDO:equivalentTo"} xref: GARD:0006801 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:98757", source="ORDO:98757/attributed", source="ORDO:98757/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:98757", source="Orphanet:98757/attributed", source="Orphanet:98757/ntbt"} xref: ICD9:336.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D017827 {source="DOID:1440", source="MONDO:equivalentTo"} xref: NCIT:C84830 {source="DOID:1440", source="MONDO:equivalentTo"} -xref: OMIM:109150 {source="ORDO:98757/e", source="DOID:1440", source="MONDO:equivalentTo", source="Orphanet:98757"} +xref: OMIM:109150 {source="DOID:1440", source="MONDO:equivalentTo", source="Orphanet:98757", source="Orphanet:98757/e"} xref: Orphanet:98757 {source="MONDO:equivalentTo", source="OMIM:109150"} xref: SCTID:91952008 {source="DOID:1440", source="MONDO:equivalentTo"} xref: UMLS:C0024408 {source="DOID:1440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98757", source="OMIM:109150", source="NCIT:C84830"} @@ -127119,9 +127091,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1228"} synonym: "Banki syndrome" EXACT [OMIM:109300] synonym: "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" RELATED [GARD:0000813] xref: GARD:0000813 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.1 {source="ORDO:1228/attributed", source="ORDO:1228/ntbt", source="Orphanet:1228"} +xref: ICD10CM:Q68.1 {source="Orphanet:1228", source="Orphanet:1228/attributed", source="Orphanet:1228/ntbt"} xref: MESH:C566228 {source="MONDO:equivalentTo"} -xref: OMIM:109300 {source="MONDO:equivalentTo", source="Orphanet:1228", source="ORDO:1228/e"} +xref: OMIM:109300 {source="MONDO:equivalentTo", source="Orphanet:1228", source="Orphanet:1228/e"} xref: Orphanet:1228 {source="OMIM:109300", source="MONDO:equivalentTo"} xref: SCTID:733093004 {source="MONDO:equivalentTo"} xref: UMLS:C1862319 {source="OMIM:109300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1228"} @@ -127183,16 +127155,16 @@ synonym: "nevoid basal cell cancer syndrome" EXACT [NCIT:C2892] synonym: "nevoid basal cell carcinoma syndrome" EXACT CLINGEN_PREFERRED [OMIM:109400, Orphanet:377] xref: DOID:2512 {source="MONDO:equivalentTo"} xref: GARD:0007166 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:377/attributed", source="ORDO:377/ntbt", source="Orphanet:377"} -xref: MedDRA:10062804 {source="ORDO:377/e", source="Orphanet:377"} +xref: ICD10CM:Q87.8 {source="Orphanet:377/attributed", source="Orphanet:377/ntbt", source="Orphanet:377"} +xref: MedDRA:10062804 {source="Orphanet:377/e", source="Orphanet:377"} xref: MESH:D001478 {source="DOID:2512", source="MONDO:equivalentTo"} xref: NCIT:C2892 {source="DOID:2512", source="MONDO:equivalentTo"} -xref: OMIM:109400 {source="DOID:2512", source="MONDO:equivalentTo", source="ORDO:377/e", source="Orphanet:377"} +xref: OMIM:109400 {source="Orphanet:377/e", source="DOID:2512", source="MONDO:equivalentTo", source="Orphanet:377"} xref: Orphanet:377 {source="OMIM:109400", source="MONDO:equivalentTo"} xref: SCTID:188145001 {source="DOID:2512"} xref: SCTID:254704004 {source="DOID:2512"} xref: SCTID:69408002 {source="DOID:2512", source="MONDO:equivalentTo"} -xref: UMLS:C0004779 {source="OMIM:109400", source="NCBI:mim2gene_medline", source="DOID:2512", source="MONDO:equivalentTo", source="NCIT:C2892", source="ORDO:377/e", source="Orphanet:377"} +xref: UMLS:C0004779 {source="OMIM:109400", source="Orphanet:377/e", source="NCBI:mim2gene_medline", source="DOID:2512", source="MONDO:equivalentTo", source="NCIT:C2892", source="Orphanet:377"} xref: UMLS:C0812437 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:377"} is_a: MONDO:0000426 {source="DOID:2512", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome @@ -127213,9 +127185,9 @@ synonym: "basilar impression, primary" RELATED [OMIM:109500] synonym: "Bull-Nixon syndrome" EXACT [Orphanet:2285] synonym: "primary basilar impression" RELATED [GARD:0001037] xref: GARD:0001037 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:2285/attributed", source="ORDO:2285/ntbt", source="Orphanet:2285"} +xref: ICD10CM:Q75.8 {source="Orphanet:2285/attributed", source="Orphanet:2285/ntbt", source="Orphanet:2285"} xref: MESH:C566226 {source="MONDO:equivalentTo"} -xref: OMIM:109500 {source="MONDO:equivalentTo", source="Orphanet:2285", source="ORDO:2285/e"} +xref: OMIM:109500 {source="Orphanet:2285/e", source="MONDO:equivalentTo", source="Orphanet:2285"} xref: Orphanet:2285 {source="OMIM:109500", source="MONDO:equivalentTo"} xref: UMLS:C1862299 {source="OMIM:109500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2285"} is_a: MONDO:0015141 {source="Orphanet:2285"} ! disorder of medulla oblongata @@ -127276,17 +127248,17 @@ synonym: "triple symptom complex" EXACT [DOID:13241] xref: DOID:13241 {source="MONDO:equivalentTo", source="EFO:0003780"} xref: EFO:0003780 {source="MONDO:equivalentTo", source="DOID:13241"} xref: GARD:0000848 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M35.2 {source="ORDO:117/e", source="Orphanet:117", source="DOID:13241"} +xref: ICD10CM:M35.2 {source="Orphanet:117", source="Orphanet:117/e", source="DOID:13241"} xref: ICD9:136.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13241", source="EFO:0003780"} -xref: MedDRA:10004213 {source="ORDO:117/e", source="Orphanet:117"} -xref: MESH:D001528 {source="ORDO:117/e", source="Orphanet:117", source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"} +xref: MedDRA:10004213 {source="Orphanet:117", source="Orphanet:117/e"} +xref: MESH:D001528 {source="Orphanet:117", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="EFO:0003780"} xref: NCIT:C34416 {source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"} -xref: OMIM:109650 {source="ORDO:117/e", source="Orphanet:117", source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"} +xref: OMIM:109650 {source="Orphanet:117", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="EFO:0003780"} xref: Orphanet:117 {source="MONDO:equivalentTo", source="OMIM:109650"} xref: SCTID:154424000 {source="DOID:13241"} xref: SCTID:310701003 {source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"} xref: SCTID:41225007 {source="DOID:13241"} -xref: UMLS:C0004943 {source="ORDO:117/e", source="Orphanet:117", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13241", source="NCIT:C34416", source="OMIM:109650"} +xref: UMLS:C0004943 {source="Orphanet:117", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="NCIT:C34416", source="OMIM:109650"} is_a: MONDO:0002254 {source="NCIT:C34416", source="indirect"} ! syndromic disease is_a: MONDO:0019293 {source="MESH:D001528", source="OWLReasoner:2017"} ! skin vascular disease relationship: disease_has_feature HP:0000554 ! Uveitis @@ -127334,9 +127306,9 @@ synonym: "aortic valve disease type 1" NARROW [MONDORULE:1, OMIM:109730] synonym: "AOVD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:109730] synonym: "familial BAV" EXACT [Orphanet:402075] xref: DOID:0080332 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q23.1 {source="ORDO:402075/attributed", source="ORDO:402075/ntbt", source="Orphanet:402075"} -xref: OMIM:109730 {source="MONDO:superClassOf", source="ORDO:402075/e", source="Orphanet:402075"} -xref: OMIM:614823 {source="ORDO:402075/btnt", source="MONDO:superClassOf", source="Orphanet:402075"} +xref: ICD10CM:Q23.1 {source="Orphanet:402075/attributed", source="Orphanet:402075/ntbt", source="Orphanet:402075"} +xref: OMIM:109730 {source="Orphanet:402075/e", source="MONDO:superClassOf", source="Orphanet:402075"} +xref: OMIM:614823 {source="MONDO:superClassOf", source="Orphanet:402075/btnt", source="Orphanet:402075"} xref: OMIMPS:109730 {source="MONDO:cjm", source="DOID:0080332", source="MONDO:equivalentTo"} xref: Orphanet:1244 {source="MONDO:superClassOf"} xref: Orphanet:402075 {source="OMIM:109730", source="DOID:0080332", source="MONDO:equivalentTo"} @@ -127408,14 +127380,14 @@ synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900] synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253] synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201] xref: GARD:0000201 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:1253", source="ORDO:1253/attributed", source="ORDO:1253/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:1253", source="Orphanet:1253/attributed", source="Orphanet:1253/ntbt"} xref: ICD9:246.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:374.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562742 {source="MONDO:equivalentTo"} -xref: OMIM:109900 {source="Orphanet:1253", source="ORDO:1253/e", source="MONDO:equivalentTo"} +xref: OMIM:109900 {source="Orphanet:1253", source="MONDO:equivalentTo", source="Orphanet:1253/e"} xref: Orphanet:1253 {source="MONDO:equivalentTo", source="OMIM:109900"} xref: SCTID:28599006 {source="MONDO:equivalentTo"} -xref: UMLS:C0339085 {source="Orphanet:1253", source="ORDO:1253/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:109900"} +xref: UMLS:C0339085 {source="Orphanet:1253", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1253/e", source="OMIM:109900"} is_a: MONDO:0015161 {source="Orphanet:1253", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0043008 {source="Orphanet:1253"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: confidence "9.0" xsd:double @@ -127440,9 +127412,9 @@ synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050] synonym: "Pashayan syndrome" EXACT [OMIM:110050, Orphanet:1252] synonym: "Pashayan-Prozansky syndrome" EXACT [Orphanet:1252] xref: GARD:0004238 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:1252", source="ORDO:1252/attributed", source="ORDO:1252/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:1252", source="Orphanet:1252/attributed", source="Orphanet:1252/ntbt"} xref: MESH:C536303 {source="MONDO:equivalentTo"} -xref: OMIM:110050 {source="Orphanet:1252", source="MONDO:equivalentTo", source="ORDO:1252/e"} +xref: OMIM:110050 {source="Orphanet:1252", source="MONDO:equivalentTo", source="Orphanet:1252/e"} xref: Orphanet:1252 {source="OMIM:110050", source="MONDO:equivalentTo"} xref: SCTID:717913006 {source="MONDO:equivalentTo"} xref: UMLS:C0796197 {source="Orphanet:1252", source="OMIM:110050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -127481,9 +127453,9 @@ synonym: "BPES, type 2" RELATED [OMIM:110100] synonym: "BPES, type I, autosomal recessive" RELATED [OMIM:110100] xref: DOID:14778 {source="MONDO:equivalentTo"} xref: GARD:0000023 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q10.3 {source="Orphanet:126", source="ORDO:126/attributed", source="ORDO:126/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:126", source="Orphanet:126/attributed", source="Orphanet:126/ntbt"} xref: MESH:C562419 {source="DOID:14778", source="MONDO:equivalentTo"} -xref: OMIM:110100 {source="Orphanet:126", source="DOID:14778", source="GARD:0000023", source="MONDO:equivalentTo", source="ORDO:126/e"} +xref: OMIM:110100 {source="Orphanet:126", source="DOID:14778", source="GARD:0000023", source="MONDO:equivalentTo", source="Orphanet:126/e"} xref: Orphanet:126 {source="GARD:0000023", source="MONDO:equivalentTo", source="OMIM:110100"} xref: SCTID:715391004 {source="MONDO:equivalentTo"} xref: SCTID:79833006 {source="DOID:14778"} @@ -127515,12 +127487,12 @@ synonym: "blepharoptosis myopia ectopia lentis" RELATED [GARD:0000912] synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [OMIM:110150] synonym: "dominantly inherited blepharoptosis, high myopia, and ectopia lentis" RELATED [GARD:0000912] xref: GARD:0000912 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q15.8 {source="ORDO:1259/attributed", source="ORDO:1259/ntbt", source="Orphanet:1259"} -xref: MESH:C536236 {source="MONDO:equivalentTo", source="Orphanet:1259", source="ORDO:1259/e"} -xref: OMIM:110150 {source="MONDO:equivalentTo", source="Orphanet:1259", source="ORDO:1259/e"} +xref: ICD10CM:Q15.8 {source="Orphanet:1259", source="Orphanet:1259/attributed", source="Orphanet:1259/ntbt"} +xref: MESH:C536236 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} +xref: OMIM:110150 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} xref: Orphanet:1259 {source="OMIM:110150", source="MONDO:equivalentTo"} xref: SCTID:717915004 {source="MONDO:equivalentTo"} -xref: UMLS:C1862259 {source="OMIM:110150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1259", source="ORDO:1259/e"} +xref: UMLS:C1862259 {source="OMIM:110150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"} is_a: MONDO:0020236 {source="Orphanet:1259"} ! lens position anomaly relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1259"} ! non-syndromic developmental defect of the eye property_value: confidence "3.533333333333334" xsd:double @@ -127536,13 +127508,13 @@ synonym: "blue rubber bleb nevus syndrome" RELATED [GARD:0005940] synonym: "BRBN" EXACT ABBREVIATION [Orphanet:1059] synonym: "BRBNS" RELATED ABBREVIATION [GARD:0005940] xref: GARD:0005940 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q27.8 {source="Orphanet:1059", source="ORDO:1059/attributed", source="ORDO:1059/ntbt"} -xref: MESH:C536240 {source="Orphanet:1059", source="ORDO:1059/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q27.8 {source="Orphanet:1059/attributed", source="Orphanet:1059/ntbt", source="Orphanet:1059"} +xref: MESH:C536240 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"} xref: NCIT:C4486 {source="MONDO:equivalentTo"} -xref: OMIM:112200 {source="Orphanet:1059", source="ORDO:1059/e", source="MONDO:equivalentTo"} +xref: OMIM:112200 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"} xref: Orphanet:1059 {source="MONDO:equivalentTo", source="OMIM:112200"} xref: SCTID:254784002 {source="MONDO:equivalentTo"} -xref: UMLS:C0346072 {source="Orphanet:1059", source="NCBI:mim2gene_medline", source="ORDO:1059/e", source="MONDO:equivalentTo", source="OMIM:112200", source="NCIT:C4486"} +xref: UMLS:C0346072 {source="Orphanet:1059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112200", source="NCIT:C4486", source="Orphanet:1059/e"} is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:1059"} ! disease or disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease is_a: MONDO:0015356 {source="Orphanet:1059"} ! hereditary neoplastic syndrome @@ -127593,13 +127565,13 @@ synonym: "Hardcastle syndrome" EXACT [Orphanet:85182] synonym: "Hardcastle's syndrome" EXACT [NCIT:C122660] synonym: "myopathy, limb-girdle, with bone fragility" RELATED [OMIM:112250] xref: GARD:0010072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M89.8 {source="ORDO:85182/attributed", source="ORDO:85182/ntbt", source="Orphanet:85182"} -xref: MESH:C536169 {source="ORDO:85182/e", source="Orphanet:85182"} +xref: ICD10CM:M89.8 {source="Orphanet:85182/attributed", source="Orphanet:85182/ntbt", source="Orphanet:85182"} +xref: MESH:C536169 {source="Orphanet:85182/e", source="Orphanet:85182"} xref: NCIT:C122660 {source="MONDO:equivalentTo"} -xref: OMIM:112250 {source="MONDO:equivalentTo", source="ORDO:85182/e", source="Orphanet:85182"} +xref: OMIM:112250 {source="Orphanet:85182/e", source="MONDO:equivalentTo", source="Orphanet:85182"} xref: Orphanet:85182 {source="OMIM:112250", source="MONDO:equivalentTo"} -xref: UMLS:C1300202 {source="ORDO:85182/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85182"} -xref: UMLS:C1862177 {source="OMIM:112250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85182/e", source="Orphanet:85182"} +xref: UMLS:C1300202 {source="Orphanet:85182/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85182"} +xref: UMLS:C1862177 {source="Orphanet:85182/e", source="OMIM:112250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85182"} is_a: MONDO:0005070 {source="Orphanet:85182"} ! neoplasm is_a: MONDO:0018230 {source="Orphanet:85182"} ! primary bone dysplasia is_a: MONDO:0019060 {source="Orphanet:85182", source="indirect"} ! bone neoplasm @@ -127625,9 +127597,9 @@ synonym: "Böök syndrome" EXACT [Orphanet:1262] synonym: "PHC syndrome" RELATED [OMIM:112300] synonym: "premolar aplasia, hyperhidrosis, and canities prematura" RELATED [GARD:0000932] xref: GARD:0000932 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="ORDO:1262/attributed", source="ORDO:1262/ntbt", source="Orphanet:1262"} +xref: ICD10CM:Q82.4 {source="Orphanet:1262/attributed", source="Orphanet:1262/ntbt", source="Orphanet:1262"} xref: MESH:C562993 {source="MONDO:equivalentTo"} -xref: OMIM:112300 {source="MONDO:equivalentTo", source="Orphanet:1262", source="ORDO:1262/e"} +xref: OMIM:112300 {source="Orphanet:1262/e", source="MONDO:equivalentTo", source="Orphanet:1262"} xref: Orphanet:1262 {source="MONDO:equivalentTo", source="OMIM:112300"} xref: SCTID:722296002 {source="MONDO:equivalentTo"} xref: UMLS:C0457014 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112300", source="Orphanet:1262"} @@ -127645,13 +127617,13 @@ synonym: "Boomerang-like skeletal dysplasia" RELATED [GARD:0000933] synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" RELATED [GARD:0000933] xref: DOID:0050680 {source="MONDO:equivalentTo"} xref: GARD:0000933 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:1263", source="ORDO:1263/attributed", source="ORDO:1263/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:1263", source="Orphanet:1263/attributed", source="Orphanet:1263/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="ORDO:1263/e"} -xref: OMIM:112310 {source="Orphanet:1263", source="MONDO:equivalentTo", source="ORDO:1263/e", source="DOID:0050680"} +xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e"} +xref: OMIM:112310 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e", source="DOID:0050680"} xref: Orphanet:1263 {source="MONDO:equivalentTo", source="OMIM:112310"} xref: SCTID:254054000 {source="MONDO:equivalentTo"} -xref: UMLS:C0432201 {source="Orphanet:1263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112310", source="ORDO:1263/e"} +xref: UMLS:C0432201 {source="Orphanet:1263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112310", source="Orphanet:1263/e"} is_a: MONDO:0005516 {source="DOID:0050680", source="MESH:C536573", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019690 {source="Orphanet:1263"} ! filamin-related bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3755 {source="mim2gene_medgen"} ! FLNB @@ -127674,12 +127646,12 @@ synonym: "Weismann-Netter syndrome" EXACT [MONDO:Lexical, OMIM:112350] synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344] synonym: "WNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112350] xref: GARD:0005232 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="Orphanet:3344", source="ORDO:3344/attributed", source="ORDO:3344/ntbt"} -xref: MESH:C537082 {source="ORDO:3344/e", source="Orphanet:3344", source="MONDO:equivalentTo"} -xref: OMIM:112350 {source="ORDO:3344/e", source="Orphanet:3344", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.8 {source="Orphanet:3344/attributed", source="Orphanet:3344/ntbt", source="Orphanet:3344"} +xref: MESH:C537082 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} +xref: OMIM:112350 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} xref: Orphanet:3344 {source="OMIM:112350", source="MONDO:equivalentTo"} xref: SCTID:715532007 {source="MONDO:equivalentTo"} -xref: UMLS:C1862172 {source="ORDO:3344/e", source="OMIM:112350", source="Orphanet:3344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1862172 {source="OMIM:112350", source="Orphanet:3344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3344/e"} is_a: MONDO:0019698 {source="Orphanet:3344"} ! bent bone dysplasia property_value: confidence "8.6" xsd:double @@ -127707,9 +127679,9 @@ synonym: "HTNB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112410] synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical, OMIM:112410] xref: DOID:0111247 {source="MONDO:equivalentTo"} xref: GARD:0000967 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="Orphanet:1276", source="ORDO:1276/attributed", source="ORDO:1276/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:1276/attributed", source="Orphanet:1276/ntbt", source="Orphanet:1276"} xref: MESH:C537095 {source="MONDO:equivalentTo"} -xref: OMIM:112410 {source="ORDO:1276/e", source="Orphanet:1276", source="MONDO:equivalentTo"} +xref: OMIM:112410 {source="Orphanet:1276", source="MONDO:equivalentTo", source="Orphanet:1276/e"} xref: Orphanet:1276 {source="MONDO:equivalentTo", source="OMIM:112410"} xref: SCTID:720568003 {source="MONDO:equivalentTo"} xref: UMLS:C1862170 {source="Orphanet:1276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112410"} @@ -127730,9 +127702,9 @@ synonym: "brachydactyly, long thumb type" EXACT [Orphanet:2946] synonym: "brachydactyly, long-thumb type" RELATED [OMIM:112430] synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968, OMIM:112430] xref: GARD:0000968 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:2946/attributed", source="ORDO:2946/ntbt", source="Orphanet:2946"} +xref: ICD10CM:Q87.2 {source="Orphanet:2946", source="Orphanet:2946/attributed", source="Orphanet:2946/ntbt"} xref: MESH:C566204 {source="MONDO:equivalentTo"} -xref: OMIM:112430 {source="MONDO:equivalentTo", source="Orphanet:2946", source="ORDO:2946/e", source="GARD:0000968"} +xref: OMIM:112430 {source="Orphanet:2946/e", source="MONDO:equivalentTo", source="Orphanet:2946", source="GARD:0000968"} xref: Orphanet:2946 {source="MONDO:equivalentTo", source="OMIM:112430", source="GARD:0000968"} xref: SCTID:733454004 {source="MONDO:equivalentTo"} xref: UMLS:C1862169 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112430", source="Orphanet:2946", source="GARD:0000968"} @@ -127757,9 +127729,9 @@ synonym: "Pitt Williams brachydactyly" RELATED [GARD:0000959] synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, OMIM:112440, Orphanet:93395] xref: DOID:0110963 {source="MONDO:equivalentTo"} xref: GARD:0000959 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="DOID:0110963", source="Orphanet:93395", source="ORDO:93395/attributed", source="ORDO:93395/ntbt"} +xref: ICD10CM:Q73.8 {source="DOID:0110963", source="Orphanet:93395", source="Orphanet:93395/attributed", source="Orphanet:93395/ntbt"} xref: MESH:C537094 {source="MONDO:equivalentTo"} -xref: OMIM:112440 {source="DOID:0110963", source="Orphanet:93395", source="MONDO:equivalentTo", source="ORDO:93395/e"} +xref: OMIM:112440 {source="DOID:0110963", source="Orphanet:93395", source="MONDO:equivalentTo", source="Orphanet:93395/e"} xref: Orphanet:93395 {source="DOID:0110963", source="MONDO:equivalentObsolete", source="OMIM:112440"} xref: SCTID:722298001 {source="MONDO:equivalentTo"} xref: UMLS:C1862163 {source="Orphanet:93395", source="OMIM:112440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -127778,9 +127750,9 @@ synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [DOID:0110962] xref: DOID:0110962 {source="MONDO:equivalentTo"} xref: GARD:0000972 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="DOID:0110962", source="Orphanet:1278", source="ORDO:1278/attributed", source="ORDO:1278/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:1278/attributed", source="Orphanet:1278/ntbt", source="DOID:0110962", source="Orphanet:1278"} xref: MESH:C537087 {source="MONDO:equivalentTo"} -xref: OMIM:112450 {source="DOID:0110962", source="ORDO:1278/e", source="Orphanet:1278", source="MONDO:equivalentTo"} +xref: OMIM:112450 {source="DOID:0110962", source="Orphanet:1278", source="MONDO:equivalentTo", source="Orphanet:1278/e"} xref: Orphanet:1278 {source="DOID:0110962", source="OMIM:112450", source="MONDO:equivalentTo"} xref: UMLS:C1862162 {source="NCBI:mim2gene_medline", source="OMIM:112450", source="Orphanet:1278", source="MONDO:equivalentTo"} is_a: MONDO:0019054 {source="Orphanet:1278", source="Orphanet:1278/inferred"} ! congenital limb malformation @@ -127800,15 +127772,15 @@ synonym: "Farabee type brachydactyly" EXACT [DOID:0110964] synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500] xref: DOID:0110964 {source="MONDO:equivalentTo"} xref: GARD:0000978 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:93388", source="ORDO:93388/attributed", source="ORDO:93388/ntbt"} -xref: MESH:C537088 {source="ORDO:93388/e", source="Orphanet:93388", source="MONDO:equivalentTo"} -xref: OMIM:112500 {source="DOID:0110964", source="ORDO:93388/e", source="Orphanet:93388", source="MONDO:equivalentTo"} -xref: OMIM:607004 {source="Orphanet:93388", source="MONDO:superClassOf", source="ORDO:93388/btnt"} -xref: OMIM:615072 {source="Orphanet:93388", source="MONDO:superClassOf", source="ORDO:93388/btnt"} -xref: OMIM:616849 {source="Orphanet:93388", source="MONDO:superClassOf", source="ORDO:93388/btnt"} +xref: ICD10CM:Q73.8 {source="Orphanet:93388/attributed", source="Orphanet:93388/ntbt", source="Orphanet:93388"} +xref: MESH:C537088 {source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} +xref: OMIM:112500 {source="DOID:0110964", source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} +xref: OMIM:607004 {source="Orphanet:93388/btnt", source="Orphanet:93388", source="MONDO:superClassOf"} +xref: OMIM:615072 {source="Orphanet:93388/btnt", source="Orphanet:93388", source="MONDO:superClassOf"} +xref: OMIM:616849 {source="Orphanet:93388/btnt", source="Orphanet:93388", source="MONDO:superClassOf"} xref: Orphanet:93388 {source="DOID:0110964", source="MONDO:equivalentTo", source="OMIM:112500"} xref: SCTID:715720006 {source="MONDO:equivalentTo"} -xref: UMLS:C1862151 {source="ORDO:93388/e", source="Orphanet:93388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112500"} +xref: UMLS:C1862151 {source="Orphanet:93388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93388/e", source="OMIM:112500"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: confidence "3.4285714285714297" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 xsd:anyURI {source="GARD:0000978"} @@ -127829,12 +127801,12 @@ synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600] xref: DOID:0110965 {source="MONDO:equivalentTo"} xref: GARD:0000979 {source="MONDO:equivalentTo"} xref: GARD:0000989 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="DOID:0110965", source="Orphanet:93396", source="ORDO:93396/attributed", source="ORDO:93396/ntbt"} -xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="ORDO:93396/e"} -xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="ORDO:93396/e"} +xref: ICD10CM:Q73.8 {source="DOID:0110965", source="Orphanet:93396/attributed", source="Orphanet:93396/ntbt", source="Orphanet:93396"} +xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} +xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} xref: Orphanet:93396 {source="DOID:0110965", source="MONDO:equivalentTo", source="OMIM:112600"} xref: SCTID:720569006 {source="MONDO:equivalentTo"} -xref: UMLS:C1832702 {source="DOID:0110965", source="Orphanet:93396", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:112600", source="ORDO:93396/e"} +xref: UMLS:C1832702 {source="DOID:0110965", source="Orphanet:93396", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93396/e", source="OMIM:112600"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: confidence "249.00000000000298" xsd:double @@ -127875,9 +127847,9 @@ synonym: "brachymesophalangy II and V" EXACT [DOID:0110967] synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800] xref: DOID:0110967 {source="MONDO:equivalentTo"} xref: GARD:0000990 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:93394", source="DOID:0110967", source="ORDO:93394/attributed", source="ORDO:93394/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:93394", source="DOID:0110967", source="Orphanet:93394/attributed", source="Orphanet:93394/ntbt"} xref: MESH:C537097 {source="MONDO:equivalentTo"} -xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="ORDO:93394/e"} +xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="Orphanet:93394/e"} xref: Orphanet:93394 {source="DOID:0110967", source="MONDO:equivalentTo", source="OMIM:112800"} xref: SCTID:715721005 {source="MONDO:equivalentTo"} xref: UMLS:C1862139 {source="Orphanet:93394", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:112800"} @@ -127900,12 +127872,12 @@ synonym: "OSEBOLD-Remondini syndrome" RELATED [OMIM:112910] synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, Orphanet:93382] xref: DOID:0110968 {source="MONDO:equivalentTo"} xref: GARD:0000983 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="DOID:0110968", source="ORDO:93382/attributed", source="ORDO:93382/ntbt", source="Orphanet:93382"} -xref: MESH:C537092 {source="MONDO:equivalentTo", source="DOID:0110968", source="ORDO:93382/e", source="Orphanet:93382"} -xref: OMIM:112910 {source="MONDO:equivalentTo", source="DOID:0110968", source="ORDO:93382/e", source="Orphanet:93382"} +xref: ICD10CM:Q73.8 {source="DOID:0110968", source="Orphanet:93382/attributed", source="Orphanet:93382/ntbt", source="Orphanet:93382"} +xref: MESH:C537092 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"} +xref: OMIM:112910 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"} xref: Orphanet:93382 {source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910"} xref: SCTID:715722003 {source="MONDO:equivalentTo"} -xref: UMLS:C1862130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910", source="ORDO:93382/e", source="Orphanet:93382"} +xref: UMLS:C1862130 {source="Orphanet:93382/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910", source="Orphanet:93382"} is_a: MONDO:0019696 {source="Orphanet:93382"} ! acromesomelic dysplasia is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: confidence "69.00000000000006" xsd:double @@ -127943,12 +127915,12 @@ synonym: "brachydactyly, Haws type" RELATED [OMIM:113100] synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100] xref: DOID:0110970 {source="MONDO:equivalentTo"} xref: GARD:0000986 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="Orphanet:93384", source="DOID:0110970", source="ORDO:93384/attributed", source="ORDO:93384/ntbt"} -xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="DOID:0110970", source="ORDO:93384/e"} -xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="DOID:0110970", source="ORDO:93384/e"} +xref: ICD10CM:Q73.8 {source="Orphanet:93384", source="Orphanet:93384/attributed", source="Orphanet:93384/ntbt", source="DOID:0110970"} +xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} +xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"} -xref: UMLS:C1300268 {source="Orphanet:93384", source="MONDO:notFoundInDiseaseSubset", source="DOID:0110970", source="ORDO:93384/e"} -xref: UMLS:C1862103 {source="Orphanet:93384", source="OMIM:113100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110970", source="ORDO:93384/e"} +xref: UMLS:C1300268 {source="Orphanet:93384", source="Orphanet:93384/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:0110970"} +xref: UMLS:C1862103 {source="Orphanet:93384", source="OMIM:113100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4220 {source="mim2gene_medgen"} ! GDF5 property_value: confidence "239.00000000000085" xsd:double @@ -128005,11 +127977,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1118"} synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [OMIM:113310] synonym: "fibular aplasia ectrodactyly" RELATED [GARD:0002331] xref: GARD:0002331 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="ORDO:1118/attributed", source="ORDO:1118/ntbt", source="Orphanet:1118"} -xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source="ORDO:1118/e"} -xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="ORDO:1118/e"} +xref: ICD10CM:Q73.8 {source="Orphanet:1118", source="Orphanet:1118/attributed", source="Orphanet:1118/ntbt"} +xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"} +xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"} xref: Orphanet:1118 {source="MONDO:equivalentTo", source="OMIM:113310"} -xref: UMLS:C1862100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113310", source="Orphanet:1118", source="ORDO:1118/e"} +xref: UMLS:C1862100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113310", source="Orphanet:1118", source="Orphanet:1118/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: confidence "8.6" xsd:double @@ -128028,10 +128000,10 @@ synonym: "brachydactyly, nystagmus and cerebellar ataxia" RELATED [GARD:0000971] synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [OMIM:113400] xref: GARD:0000881 {source="MONDO:equivalentTo"} xref: GARD:0000971 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1246", source="ORDO:1246/attributed", source="ORDO:1246/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1246/attributed", source="Orphanet:1246/ntbt", source="Orphanet:1246"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566192 {source="MONDO:equivalentTo"} -xref: OMIM:113400 {source="Orphanet:1246", source="ORDO:1246/e", source="MONDO:equivalentTo"} +xref: OMIM:113400 {source="Orphanet:1246", source="MONDO:equivalentTo", source="Orphanet:1246/e"} xref: Orphanet:1246 {source="MONDO:equivalentTo", source="OMIM:113400"} xref: SCTID:205828009 {source="MONDO:equivalentTo"} xref: UMLS:C1862099 {source="Orphanet:1246", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113400"} @@ -128048,13 +128020,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:3168"} synonym: "brachydactyly-distal symphalangism syndrome" RELATED [GARD:0004869, OMIM:113450] synonym: "brachydactyly-symphalangism syndrome" EXACT [Orphanet:3168] xref: GARD:0004869 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.8 {source="Orphanet:3168", source="ORDO:3168/attributed", source="ORDO:3168/ntbt"} -xref: MESH:C537338 {source="ORDO:3168/e", source="Orphanet:3168", source="MONDO:equivalentTo"} -xref: OMIM:113450 {source="ORDO:3168/e", source="Orphanet:3168", source="MONDO:equivalentTo"} +xref: ICD10CM:Q74.8 {source="Orphanet:3168/attributed", source="Orphanet:3168/ntbt", source="Orphanet:3168"} +xref: MESH:C537338 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"} +xref: OMIM:113450 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"} xref: Orphanet:3168 {source="OMIM:113450", source="MONDO:equivalentTo"} xref: SCTID:732956000 {source="MONDO:equivalentTo"} xref: UMLS:C0342282 {source="MONDO:relatedTo", source="Orphanet:3168"} -xref: UMLS:C1862092 {source="ORDO:3168/e", source="OMIM:113450", source="Orphanet:3168", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1862092 {source="OMIM:113450", source="Orphanet:3168", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3168/e"} is_a: MONDO:0002254 {source="Orphanet:3168"} ! syndromic disease property_value: confidence "0.15714285714285703" xsd:double @@ -128091,12 +128063,12 @@ synonym: "Brachymorphism onychodysplasia dysphalangism syndrome" RELATED [GARD:0 synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477] synonym: "Senior syndrome" EXACT [Orphanet:1292] xref: GARD:0000918 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:1292/attributed", source="ORDO:1292/ntbt", source="Orphanet:1292"} -xref: MESH:C536242 {source="MONDO:equivalentTo", source="ORDO:1292/e", source="Orphanet:1292"} -xref: OMIM:113477 {source="MONDO:equivalentTo", source="ORDO:1292/e", source="Orphanet:1292"} +xref: ICD10CM:Q87.1 {source="Orphanet:1292/attributed", source="Orphanet:1292/ntbt", source="Orphanet:1292"} +xref: MESH:C536242 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"} +xref: OMIM:113477 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"} xref: Orphanet:1292 {source="MONDO:equivalentTo", source="OMIM:113477"} xref: SCTID:720573009 {source="MONDO:equivalentTo"} -xref: UMLS:C1862082 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113477", source="ORDO:1292/e", source="Orphanet:1292"} +xref: UMLS:C1862082 {source="Orphanet:1292/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113477", source="Orphanet:1292"} is_a: MONDO:0015160 {source="Orphanet:1292", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -128109,9 +128081,9 @@ name: brachytelephalangy-dysmorphism-Kallmann syndrome def: "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." [Orphanet:1295] subset: ordo_malformation_syndrome {source="Orphanet:1295"} synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [OMIM:113480] -xref: ICD10CM:Q87.0 {source="ORDO:1295/attributed", source="ORDO:1295/ntbt", source="Orphanet:1295"} +xref: ICD10CM:Q87.0 {source="Orphanet:1295/attributed", source="Orphanet:1295/ntbt", source="Orphanet:1295"} xref: MESH:C537101 {source="MONDO:equivalentTo"} -xref: OMIM:113480 {source="MONDO:equivalentTo", source="Orphanet:1295", source="ORDO:1295/e"} +xref: OMIM:113480 {source="Orphanet:1295/e", source="MONDO:equivalentTo", source="Orphanet:1295"} xref: Orphanet:1295 {source="OMIM:113480", source="MONDO:equivalentTo"} xref: UMLS:C1862081 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931421 {source="OMIM:113480", source="MONDO:equivalentTo", source="Orphanet:1295"} @@ -128133,8 +128105,8 @@ synonym: "brachyolmia type 3" EXACT [MONDO:Lexical, OMIM:113500, Orphanet:93304] synonym: "brachyolmia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:113500] synonym: "brachyrachia" RELATED [OMIM:113500] xref: GARD:0010429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q76.3 {source="ORDO:93304/attributed", source="ORDO:93304/ntbt", source="Orphanet:93304"} -xref: OMIM:113500 {source="MONDO:equivalentTo", source="ORDO:93304/e", source="Orphanet:93304"} +xref: ICD10CM:Q76.3 {source="Orphanet:93304", source="Orphanet:93304/attributed", source="Orphanet:93304/ntbt"} +xref: OMIM:113500 {source="MONDO:equivalentTo", source="Orphanet:93304", source="Orphanet:93304/e"} xref: Orphanet:93304 {source="MONDO:equivalentTo", source="OMIM:113500"} xref: SCTID:717264003 {source="MONDO:equivalentTo"} xref: UMLS:C0432227 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113500", source="Orphanet:93304"} @@ -128158,9 +128130,9 @@ synonym: "branchial cleft remnant" EXACT [NCIT:C104813] synonym: "branchial cysts" RELATED [OMIM:113600] synonym: "second branchial cleft cyst" EXACT [Orphanet:141022] synonym: "second branchial cleft fistula" EXACT [Orphanet:141022] -xref: ICD10CM:Q18.0 {source="Orphanet:141022", source="ORDO:141022/ntbt"} +xref: ICD10CM:Q18.0 {source="Orphanet:141022/ntbt", source="Orphanet:141022"} xref: NCIT:C104813 {source="MONDO:equivalentTo"} -xref: OMIM:113600 {source="ORDO:141022/e", source="Orphanet:141022", source="MONDO:equivalentTo"} +xref: OMIM:113600 {source="Orphanet:141022", source="MONDO:equivalentTo", source="Orphanet:141022/e"} xref: Orphanet:141022 {source="MONDO:equivalentTo", source="OMIM:113600"} xref: SCTID:73381000119100 {source="MONDO:equivalentTo"} xref: UMLS:C0006131 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113600"} @@ -128195,12 +128167,12 @@ synonym: "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" RELATED [OMI synonym: "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" RELATED [OMIM:113620] xref: DOID:0050691 {source="MONDO:equivalentTo"} xref: GARD:0003212 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q18.8 {source="Orphanet:1297", source="ORDO:1297/attributed", source="ORDO:1297/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:1297", source="Orphanet:1297/attributed", source="Orphanet:1297/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:113620 {source="Orphanet:1297", source="ORDO:1297/e", source="MONDO:equivalentTo", source="DOID:0050691"} +xref: OMIM:113620 {source="Orphanet:1297", source="MONDO:equivalentTo", source="Orphanet:1297/e", source="DOID:0050691"} xref: Orphanet:1297 {source="MONDO:equivalentTo", source="OMIM:113620"} xref: SCTID:449821007 {source="MONDO:equivalentTo"} -xref: UMLS:C0376524 {source="Orphanet:1297", source="ORDO:1297/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113620"} +xref: UMLS:C0376524 {source="Orphanet:1297", source="NCBI:mim2gene_medline", source="Orphanet:1297/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113620"} is_a: MONDO:0000426 {source="DOID:0050691", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:1297", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:1297"} ! orofacial clefting syndrome @@ -128241,9 +128213,9 @@ synonym: "juvenile gigantomastia" EXACT [Wikipedia:Breast_hypertrophy] synonym: "juvenile macromastia" EXACT [Wikipedia:Breast_hypertrophy] synonym: "virginal breast hypertrophy" EXACT [Orphanet:180176, Wikipedia:Breast_hypertrophy] synonym: "virginal mammary hypertrophy" EXACT [Wikipedia:Breast_hypertrophy] -xref: ICD10CM:N62 {source="ORDO:180176/ntbt", source="MONDO:relatedTo", source="Orphanet:180176"} +xref: ICD10CM:N62 {source="MONDO:relatedTo", source="Orphanet:180176", source="Orphanet:180176/ntbt"} xref: MESH:C536821 {source="MONDO:equivalentTo"} -xref: OMIM:113670 {source="MONDO:equivalentTo", source="Orphanet:180176", source="ORDO:180176/e"} +xref: OMIM:113670 {source="MONDO:equivalentTo", source="Orphanet:180176", source="Orphanet:180176/e"} xref: Orphanet:180176 {source="OMIM:113670", source="MONDO:equivalentTo"} xref: UMLS:C0405471 {source="OMIM:113670", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2676048 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -128273,7 +128245,7 @@ xref: SCTID:75474006 {source="MONDO:equivalentTo"} xref: UMLS:C0175755 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:113700"} xref: UMLS:C0432357 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C118459", source="OMIM:113700"} xref: UMLS:CN033494 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015855 {source="OMIM:113700", source="ORDO:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia +is_a: MONDO:0015855 {source="OMIM:113700", source="Orphanet:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia property_value: confidence "2.547008547008547" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/4449 xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples xsd:anyURI {source="GARD:0009489"} @@ -128302,16 +128274,16 @@ synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [DOID:4603] synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312] xref: DOID:4603 {source="MONDO:equivalentTo"} xref: GARD:0001039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q80.3 {source="Orphanet:312", source="DOID:4603", source="ORDO:312/specific", source="ORDO:312/e"} +xref: ICD10CM:Q80.3 {source="Orphanet:312", source="Orphanet:312/e", source="DOID:4603", source="Orphanet:312/specific"} xref: MESH:D017488 {source="MONDO:equivalentTo", source="DOID:4603"} xref: NCIT:C62569 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:4603"} -xref: OMIM:113800 {source="Orphanet:312", source="MONDO:equivalentTo", source="DOID:4603", source="ORDO:312/e"} -xref: OMIM:607602 {source="Orphanet:312", source="MONDO:superClassOf", source="ORDO:312/btnt"} +xref: OMIM:113800 {source="Orphanet:312", source="MONDO:equivalentTo", source="Orphanet:312/e", source="DOID:4603"} +xref: OMIM:607602 {source="Orphanet:312", source="Orphanet:312/btnt", source="MONDO:superClassOf"} xref: Orphanet:312 {source="MONDO:equivalentTo", source="OMIM:113800"} xref: SCTID:20512000 {source="DOID:4603"} xref: SCTID:239071005 {source="DOID:4603"} xref: SCTID:254167000 {source="MONDO:equivalentTo", source="DOID:4603"} -xref: UMLS:C0079153 {source="Orphanet:312", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:4603", source="ORDO:312/e", source="OMIM:113800"} +xref: UMLS:C0079153 {source="Orphanet:312", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:312/e", source="DOID:4603", source="OMIM:113800"} xref: UMLS:C1862005 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:113800"} is_a: MONDO:0017266 {source="Orphanet:312"} ! keratinopathic ichthyosis @@ -128397,18 +128369,18 @@ synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [DOID:8584, NCI xref: DOID:8584 {source="MONDO:equivalentTo", source="EFO:0000309"} xref: EFO:0000309 {source="MONDO:equivalentTo"} xref: GARD:0005973 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C83.7 {source="Orphanet:543", source="ORDO:543/e", source="DOID:8584"} +xref: ICD10CM:C83.7 {source="Orphanet:543", source="Orphanet:543/e", source="DOID:8584"} xref: ICD10CM:C83.70 {source="DOID:8584"} xref: ICD9:200.2 {source="DOID:8584", source="EFO:0000309"} xref: ICDO:9687/3 {source="NCIT:C2912"} -xref: MedDRA:10006595 {source="Orphanet:543", source="ORDO:543/e"} -xref: MedDRA:10053518 {source="Orphanet:543", source="ORDO:543/e"} -xref: MedDRA:10067184 {source="Orphanet:543", source="ORDO:543/e"} -xref: MESH:D002051 {source="Orphanet:543", source="MONDO:equivalentTo", source="ORDO:543/e", source="DOID:8584", source="EFO:0000309"} -xref: MESH:D008228 {source="MONDO:subClassOf", source="Orphanet:543", source="ORDO:543/e"} +xref: MedDRA:10006595 {source="Orphanet:543", source="Orphanet:543/e"} +xref: MedDRA:10053518 {source="Orphanet:543", source="Orphanet:543/e"} +xref: MedDRA:10067184 {source="Orphanet:543", source="Orphanet:543/e"} +xref: MESH:D002051 {source="Orphanet:543", source="MONDO:equivalentTo", source="Orphanet:543/e", source="DOID:8584", source="EFO:0000309"} +xref: MESH:D008228 {source="MONDO:subClassOf", source="Orphanet:543", source="Orphanet:543/e"} xref: NCIT:C2912 {source="MONDO:equivalentTo", source="DOID:8584", source="EFO:0000309"} xref: NCIT:C7400 {source="DOID:8584", source="EFO:0000309"} -xref: OMIM:113970 {source="Orphanet:543", source="MONDO:equivalentTo", source="ORDO:543/e", source="DOID:8584", source="EFO:0000309"} +xref: OMIM:113970 {source="Orphanet:543", source="MONDO:equivalentTo", source="Orphanet:543/e", source="DOID:8584", source="EFO:0000309"} xref: ONCOTREE:BL {source="MONDO:equivalentTo"} xref: Orphanet:543 {source="MONDO:equivalentTo", source="OMIM:113970"} xref: SCTID:118617000 {source="MONDO:equivalentTo", source="DOID:8584"} @@ -128421,8 +128393,8 @@ xref: SCTID:22197008 {source="DOID:8584", source="EFO:0000309"} xref: SCTID:277571004 {source="MONDO:relatedTo", source="DOID:8584"} xref: SCTID:397400006 {source="DOID:8584"} xref: SCTID:77381001 {source="DOID:8584", source="EFO:0000309"} -xref: UMLS:C0006413 {source="NCIT:C2912", source="Orphanet:543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113970", source="ORDO:543/e", source="DOID:8584"} -xref: UMLS:C0079770 {source="Orphanet:543", source="MONDO:notFoundInDiseaseSubset", source="ORDO:543/e"} +xref: UMLS:C0006413 {source="NCIT:C2912", source="Orphanet:543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113970", source="Orphanet:543/e", source="DOID:8584"} +xref: UMLS:C0079770 {source="Orphanet:543", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:543/e"} is_a: MONDO:0004949 {source="DOID:8584", source="EFO:0000309", source="NCIT:C2912/inferred", source="ONCOTREE:BL"} ! neoplasm of mature B-cells is_a: MONDO:0017343 {source="Orphanet:543"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0017595 {source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma @@ -128440,12 +128412,12 @@ synonym: "cortical congenital hyperostosis" EXACT [DOID:4257] synonym: "infantile cortical hyperostosis" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310] xref: DOID:4257 {source="MONDO:equivalentTo"} xref: GARD:0001051 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M89.8 {source="DOID:4257", source="Orphanet:1310", source="ORDO:1310/attributed", source="ORDO:1310/ntbt"} +xref: ICD10CM:M89.8 {source="DOID:4257", source="Orphanet:1310", source="Orphanet:1310/attributed", source="Orphanet:1310/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D006958 {source="DOID:4257", source="MONDO:equivalentTo"} xref: NCIT:C118423 {source="DOID:4257", source="MONDO:equivalentTo"} xref: NCIT:C84645 {source="DOID:4257"} -xref: OMIM:114000 {source="DOID:4257", source="Orphanet:1310", source="ORDO:1310/e", source="MONDO:equivalentTo"} +xref: OMIM:114000 {source="DOID:4257", source="Orphanet:1310", source="MONDO:equivalentTo", source="Orphanet:1310/e"} xref: Orphanet:1310 {source="OMIM:114000", source="MONDO:equivalentTo"} xref: SCTID:123258003 {source="DOID:4257"} xref: SCTID:24752008 {source="DOID:4257", source="MONDO:equivalentTo"} @@ -128476,11 +128448,11 @@ synonym: "neurofibromatosis type 6" EXACT [GARD:0003967, Orphanet:2678] synonym: "NF6" EXACT ABBREVIATION [GARD:0003967, Orphanet:2678] xref: GARD:0001050 {source="MONDO:equivalentObsolete"} xref: GARD:0003967 {source="MONDO:equivalentTo"} -xref: ICD10CM:L81.3 {source="Orphanet:2678", source="ORDO:2678/e", source="ORDO:2678/specific"} +xref: ICD10CM:L81.3 {source="Orphanet:2678", source="Orphanet:2678/specific", source="Orphanet:2678/e"} xref: MESH:C537421 {source="MONDO:equivalentTo"} -xref: OMIM:114030 {source="MONDO:equivalentTo", source="Orphanet:2678", source="ORDO:2678/e", source="GARD:0003967", source="GARD:0001050"} +xref: OMIM:114030 {source="MONDO:equivalentTo", source="Orphanet:2678", source="GARD:0003967", source="GARD:0001050", source="Orphanet:2678/e"} xref: Orphanet:2678 {source="OMIM:114030", source="MONDO:equivalentTo", source="GARD:0003967"} -xref: UMLS:C1861975 {source="OMIM:114030", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2678", source="ORDO:2678/e", source="GARD:0001050"} +xref: UMLS:C1861975 {source="OMIM:114030", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2678", source="GARD:0001050", source="Orphanet:2678/e"} xref: UMLS:CN035858 {source="MONDO:equivalentTo"} is_a: MONDO:0019289 {source="Orphanet:2678"} ! hyperpigmentation of the skin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots xsd:anyURI {source="GARD:0003967"} @@ -128513,7 +128485,7 @@ xref: OMIM:114100 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="MONDO:subClassOf", source="OMIM:114100"} xref: UMLS:C1861967 {source="NCBI:mim2gene_medline", source="OMIM:114100", source="MONDO:equivalentTo"} is_a: MONDO:0008947 ! bilateral striopallidodentate calcinosis -is_a: MONDO:0018866 {source="ORDO:51/btnt"} ! Aicardi-Goutieres syndrome +is_a: MONDO:0018866 {source="Orphanet:51/btnt"} ! Aicardi-Goutieres syndrome relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:114100"} ! Autosomal recessive inheritance relationship: has_modifier MONDO:0700005 ! idiopathic property_value: confidence "0.5" xsd:double @@ -128530,9 +128502,9 @@ synonym: "keratosis palmoplantaris nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar hyperkeratosis nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar keratoderma nummularis" EXACT [Orphanet:79141] synonym: "PPK nummularis" EXACT [Orphanet:79141] -xref: ICD10CM:Q82.8 {source="ORDO:79141/attributed", source="ORDO:79141/ntbt", source="Orphanet:79141"} +xref: ICD10CM:Q82.8 {source="Orphanet:79141", source="Orphanet:79141/attributed", source="Orphanet:79141/ntbt"} xref: MESH:C566180 {source="MONDO:equivalentTo"} -xref: OMIM:114140 {source="ORDO:79141/e", source="MONDO:equivalentTo", source="Orphanet:79141"} +xref: OMIM:114140 {source="MONDO:equivalentTo", source="Orphanet:79141", source="Orphanet:79141/e"} xref: Orphanet:79141 {source="OMIM:114140", source="MONDO:equivalentTo"} xref: UMLS:C1861964 {source="OMIM:114140", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79141"} is_a: MONDO:0017673 {source="Orphanet:79141"} ! isolated focal palmoplantar keratoderma @@ -128547,12 +128519,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1319"} synonym: "camptobrachydactyly" EXACT [OMIM:114150] synonym: "short foot/brachydactyly of toes, camptodactyly, brachydactyly" RELATED [GARD:0001062] xref: GARD:0001062 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="ORDO:1319/attributed", source="ORDO:1319/ntbt", source="Orphanet:1319"} -xref: MESH:C537967 {source="MONDO:equivalentTo", source="ORDO:1319/e", source="Orphanet:1319"} -xref: OMIM:114150 {source="MONDO:equivalentTo", source="ORDO:1319/e", source="Orphanet:1319"} +xref: ICD10CM:Q74.8 {source="Orphanet:1319/attributed", source="Orphanet:1319/ntbt", source="Orphanet:1319"} +xref: MESH:C537967 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"} +xref: OMIM:114150 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"} xref: Orphanet:1319 {source="MONDO:equivalentTo", source="OMIM:114150"} xref: SCTID:733045005 {source="MONDO:equivalentTo"} -xref: UMLS:C1861963 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1319/e", source="Orphanet:1319", source="OMIM:114150"} +xref: UMLS:C1861963 {source="Orphanet:1319/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1319", source="OMIM:114150"} is_a: MONDO:0021004 {source="Orphanet:1319"} ! brachydactyly property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly xsd:anyURI {source="GARD:0001062"} @@ -128571,11 +128543,11 @@ synonym: "familial streblodactyly" RELATED [GARD:0009448] synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C536852] synonym: "streblodactyly" RELATED [OMIM:114200] xref: GARD:0009448 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.1 {source="ORDO:295016/attributed", source="ORDO:295016/ntbt", source="Orphanet:295016"} +xref: ICD10CM:Q68.1 {source="Orphanet:295016", source="Orphanet:295016/attributed", source="Orphanet:295016/ntbt"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536852 {source="MONDO:equivalentTo"} xref: MESH:C567780 {source="MONDO:equivalentTo"} -xref: OMIM:114200 {source="GARD:0009448", source="MONDO:equivalentTo", source="Orphanet:295016", source="ORDO:295016/e"} +xref: OMIM:114200 {source="GARD:0009448", source="MONDO:equivalentTo", source="Orphanet:295016", source="Orphanet:295016/e"} xref: Orphanet:295016 {source="OMIM:114200", source="MONDO:equivalentTo"} xref: SCTID:29271008 {source="MONDO:equivalentTo"} xref: UMLS:C1306668 {source="OMIM:114200", source="MONDO:notFoundInDiseaseSubset"} @@ -128603,18 +128575,18 @@ synonym: "CMPD1" RELATED ABBREVIATION [GARD:0010027] synonym: "Cmpd1/Sra1" RELATED [OMIM:114290] xref: DOID:0050463 {source="MONDO:equivalentTo"} xref: GARD:0010027 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:140/attributed", source="ORDO:140/ntbt", source="Orphanet:140"} +xref: ICD10CM:Q87.1 {source="Orphanet:140", source="Orphanet:140/attributed", source="Orphanet:140/ntbt"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="ORDO:140/e", source="Orphanet:140"} +xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"} xref: NCIT:C120205 {source="DOID:0050463"} xref: NCIT:C84609 {source="DOID:0050463", source="MONDO:equivalentTo"} -xref: OMIM:114290 {source="DOID:0050463", source="MONDO:equivalentTo", source="ORDO:140/e", source="Orphanet:140"} -xref: OMIM:211990 {source="ORDO:140/btnt", source="MONDO:superClassOf", source="Orphanet:140"} -xref: OMIM:602196 {source="ORDO:140/btnt", source="MONDO:superClassOf", source="Orphanet:140"} +xref: OMIM:114290 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"} +xref: OMIM:211990 {source="MONDO:superClassOf", source="Orphanet:140", source="Orphanet:140/btnt"} +xref: OMIM:602196 {source="MONDO:superClassOf", source="Orphanet:140", source="Orphanet:140/btnt"} xref: Orphanet:140 {source="MONDO:equivalentTo", source="OMIM:114290"} xref: SCTID:74928006 {source="DOID:0050463", source="MONDO:equivalentTo"} xref: UMLS:C1842462 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:114290"} -xref: UMLS:C1861922 {source="DOID:0050463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:140/e", source="NCIT:C84609", source="Orphanet:140", source="OMIM:114290"} +xref: UMLS:C1861922 {source="DOID:0050463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84609", source="Orphanet:140", source="OMIM:114290", source="Orphanet:140/e"} xref: UMLS:C1861923 {source="DOID:0050463", source="MONDO:equivalentTo", source="OMIM:114290"} xref: UMLS:C3549544 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:114290"} is_a: MONDO:0005151 ! endocrine system disorder @@ -128645,10 +128617,10 @@ synonym: "distal arthrogryposis type 3" EXACT [Orphanet:376] synonym: "distal arthrogryposis type IIA" EXACT [Orphanet:376] synonym: "Gordon syndrome" EXACT [OMIM:114300] xref: GARD:0002553 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="ORDO:376/attributed", source="ORDO:376/ntbt", source="Orphanet:376"} +xref: ICD10CM:Q68.8 {source="Orphanet:376/attributed", source="Orphanet:376/ntbt", source="Orphanet:376"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537288 {source="MONDO:equivalentTo", source="ORDO:376/e", source="Orphanet:376"} -xref: OMIM:114300 {source="MONDO:equivalentTo", source="ORDO:376/e", source="Orphanet:376"} +xref: MESH:C537288 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"} +xref: OMIM:114300 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"} xref: Orphanet:376 {source="MONDO:equivalentTo", source="OMIM:114300"} xref: SCTID:237850008 {source="MONDO:equivalentTo"} xref: UMLS:C0220666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114300", source="Orphanet:376"} @@ -128746,16 +128718,16 @@ synonym: "primary carcinoma of the liver cells" EXACT [NCIT:C3099] xref: DOID:684 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000182"} xref: DOID:686 {source="MONDO:equivalentTo"} xref: EFO:0000182 {source="MONDO:equivalentTo", source="DOID:684"} -xref: ICD10CM:C22.0 {source="ORDO:88673/e", source="Orphanet:88673"} +xref: ICD10CM:C22.0 {source="Orphanet:88673/e", source="Orphanet:88673"} xref: ICDO:8170/3 {source="NCIT:C3099"} -xref: MedDRA:10049010 {source="ORDO:88673/e", source="Orphanet:88673"} -xref: MESH:D006528 {source="MONDO:equivalentTo", source="ORDO:88673/e", source="EFO:0000182", source="Orphanet:88673"} +xref: MedDRA:10049010 {source="Orphanet:88673/e", source="Orphanet:88673"} +xref: MESH:D006528 {source="Orphanet:88673/e", source="MONDO:equivalentTo", source="EFO:0000182", source="Orphanet:88673"} xref: MESH:D008113 {source="EFO:0000182"} xref: NCIT:C3099 {source="MONDO:equivalentTo", source="EFO:0000182"} xref: NCIT:C7711 {source="DOID:684"} xref: NCIT:C7927 {source="MONDO:subClassOf", source="DOID:686"} xref: NCIT:C7956 {source="MONDO:superClassOf", source="DOID:684"} -xref: OMIM:114550 {source="MONDO:equivalentTo", source="ORDO:88673/e", source="DOID:684", source="EFO:0000182", source="Orphanet:88673"} +xref: OMIM:114550 {source="Orphanet:88673/e", source="MONDO:equivalentTo", source="DOID:684", source="EFO:0000182", source="Orphanet:88673"} xref: ONCOTREE:HCC {source="MONDO:equivalentTo"} xref: Orphanet:449 {source="OMIM:114550", source="MONDO:superClassOf"} xref: Orphanet:88673 {source="OMIM:114550", source="MONDO:equivalentTo"} @@ -128808,9 +128780,9 @@ def: "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome subset: ordo_disease {source="Orphanet:363705"} synonym: "Cantu craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705] synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620] -xref: ICD10CM:Q87.0 {source="ORDO:363705/attributed", source="ORDO:363705/ntbt", source="Orphanet:363705"} +xref: ICD10CM:Q87.0 {source="Orphanet:363705/attributed", source="Orphanet:363705/ntbt", source="Orphanet:363705"} xref: MESH:C567298 {source="MONDO:equivalentTo"} -xref: OMIM:114620 {source="MONDO:equivalentTo", source="ORDO:363705/e", source="Orphanet:363705"} +xref: OMIM:114620 {source="Orphanet:363705/e", source="MONDO:equivalentTo", source="Orphanet:363705"} xref: Orphanet:363705 {source="MONDO:equivalentTo", source="OMIM:114620"} xref: SCTID:763320005 {source="MONDO:equivalentTo"} xref: UMLS:C2676032 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114620", source="Orphanet:363705"} @@ -129011,8 +128983,8 @@ synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" E synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110425 {source="MONDO:equivalentTo"} xref: GARD:0001104 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="Orphanet:300751", source="ORDO:300751/attributed", source="ORDO:300751/ntbt"} -xref: OMIM:115200 {source="ORDO:300751/e", source="DOID:0110425", source="Orphanet:300751", source="MONDO:equivalentTo"} +xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="Orphanet:300751/attributed", source="Orphanet:300751/ntbt", source="Orphanet:300751"} +xref: OMIM:115200 {source="DOID:0110425", source="Orphanet:300751", source="MONDO:equivalentTo", source="Orphanet:300751/e"} xref: Orphanet:300751 {source="DOID:0110425", source="OMIM:115200", source="MONDO:equivalentTo"} xref: SCTID:766883006 {source="MONDO:equivalentTo"} xref: UMLS:C1449563 {source="NCBI:mim2gene_medline", source="OMIM:115200", source="MONDO:equivalentTo"} @@ -129042,7 +129014,7 @@ xref: OMIM:115210 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="MONDO:subClassOf", source="OMIM:115210"} xref: UMLS:C1861861 {source="OMIM:115210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:115210", source="indirect"} ! familial restrictive cardiomyopathy -is_a: MONDO:0019150 {source="MONDO:Redundant", source="ORDO:75249/btnt"} ! familial isolated restrictive cardiomyopathy +is_a: MONDO:0019150 {source="MONDO:Redundant", source="Orphanet:75249/btnt"} ! familial isolated restrictive cardiomyopathy intersection_of: MONDO:0019150 ! familial isolated restrictive cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11947 ! TNNI3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11947 {source="mim2gene_medgen"} ! TNNI3 @@ -129056,12 +129028,12 @@ subset: gard_rare {source="GARD:0009799"} subset: ordo_disease {source="Orphanet:53296"} synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250] xref: GARD:0009799 {source="MONDO:equivalentTo"} -xref: ICD10CM:L94.8 {source="ORDO:53296/attributed", source="ORDO:53296/ntbt", source="Orphanet:53296"} +xref: ICD10CM:L94.8 {source="Orphanet:53296/attributed", source="Orphanet:53296/ntbt", source="Orphanet:53296"} xref: MESH:C562925 {source="MONDO:equivalentTo"} -xref: OMIM:115250 {source="MONDO:equivalentTo", source="ORDO:53296/e", source="Orphanet:53296"} +xref: OMIM:115250 {source="Orphanet:53296/e", source="MONDO:equivalentTo", source="Orphanet:53296"} xref: Orphanet:53296 {source="MONDO:equivalentTo", source="OMIM:115250"} xref: SCTID:239139000 {source="MONDO:equivalentTo"} -xref: UMLS:C0406817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:53296/e", source="Orphanet:53296", source="OMIM:115250"} +xref: UMLS:C0406817 {source="Orphanet:53296/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:53296", source="OMIM:115250"} is_a: MONDO:0019292 {source="Orphanet:53296", source="Orphanet:53296/inferred"} ! dermis elastic tissue disorder property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma xsd:anyURI {source="GARD:0009799"} @@ -129074,10 +129046,10 @@ subset: ordo_disease {source="Orphanet:199285"} synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [OMIM:115300] synonym: "HCVAD" RELATED ABBREVIATION [OMIM:115300] synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [OMIM:115300] -xref: ICD10CM:E50.8 {source="Orphanet:199285", source="ORDO:199285/attributed", source="ORDO:199285/ntbt"} +xref: ICD10CM:E50.8 {source="Orphanet:199285", source="Orphanet:199285/attributed", source="Orphanet:199285/ntbt"} xref: MESH:C567296 {source="MONDO:equivalentTo"} -xref: OMIM:115300 {source="Orphanet:199285", source="MONDO:equivalentTo", source="ORDO:199285/e"} -xref: OMIM:277350 {source="Orphanet:199285", source="MONDO:superClassOf", source="ORDO:199285/btnt"} +xref: OMIM:115300 {source="Orphanet:199285", source="MONDO:equivalentTo", source="Orphanet:199285/e"} +xref: OMIM:277350 {source="Orphanet:199285", source="Orphanet:199285/btnt", source="MONDO:superClassOf"} xref: Orphanet:199285 {source="OMIM:115300", source="MONDO:equivalentTo"} xref: SCTID:726079008 {source="MONDO:equivalentTo"} xref: UMLS:C2676023 {source="OMIM:115300", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -129109,7 +129081,7 @@ xref: Orphanet:29072 {source="MONDO:subClassOf", source="OMIM:115310"} xref: UMLS:C1861848 {source="NCBI:mim2gene_medline", source="OMIM:115310", source="MONDO:equivalentTo"} is_a: MONDO:0000448 {source="DC-OMIM:115310", source="MONDO:Redundant", source="OMIM:115310"} ! paraganglioma is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm -is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10681 ! SDHB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10681 {source="mim2gene_medgen"} ! SDHB @@ -129167,13 +129139,13 @@ synonym: "chromosome 22 partial tetrasomy" RELATED [OMIM:115470] synonym: "Inv dup(22)(q11)" RELATED [OMIM:115470] synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470] xref: GARD:0000026 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.8 {source="ORDO:195/attributed", source="ORDO:195/ntbt", source="Orphanet:195"} -xref: MESH:C535918 {source="MONDO:equivalentTo", source="ORDO:195/e", source="Orphanet:195"} +xref: ICD10CM:Q92.8 {source="Orphanet:195", source="Orphanet:195/attributed", source="Orphanet:195/ntbt"} +xref: MESH:C535918 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"} xref: NCIT:C75477 {source="MONDO:equivalentTo"} -xref: OMIM:115470 {source="MONDO:equivalentTo", source="ORDO:195/e", source="Orphanet:195"} +xref: OMIM:115470 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"} xref: Orphanet:195 {source="MONDO:equivalentTo", source="OMIM:115470"} xref: SCTID:26445008 {source="MONDO:equivalentTo"} -xref: UMLS:C0265493 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:195/e", source="Orphanet:195", source="NCIT:C75477", source="OMIM:115470"} +xref: UMLS:C0265493 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:195", source="NCIT:C75477", source="OMIM:115470", source="Orphanet:195/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75477", source="indirect"} ! syndromic disease is_a: MONDO:0015246 {source="Orphanet:195"} ! syndromic anorectal malformation is_a: MONDO:0015368 ! neuro-ophthalmological disease @@ -129193,9 +129165,9 @@ synonym: "cataracts, aberrant oral frenula, and growth retardation" RELATED [GAR synonym: "Wellesley Carmen French syndrome" RELATED [GARD:0005554] synonym: "Wellesley-Carman-French syndrome" EXACT [Orphanet:1373] xref: GARD:0005554 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1373", source="ORDO:1373/attributed", source="ORDO:1373/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1373", source="Orphanet:1373/attributed", source="Orphanet:1373/ntbt"} xref: MESH:C536691 {source="MONDO:equivalentTo"} -xref: OMIM:115645 {source="Orphanet:1373", source="MONDO:equivalentTo", source="ORDO:1373/e"} +xref: OMIM:115645 {source="Orphanet:1373", source="MONDO:equivalentTo", source="Orphanet:1373/e"} xref: Orphanet:1373 {source="MONDO:equivalentTo", source="OMIM:115645"} xref: SCTID:715988005 {source="MONDO:equivalentTo"} xref: UMLS:C1861835 {source="Orphanet:1373", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:115645"} @@ -129228,7 +129200,7 @@ xref: Orphanet:98993 {source="MONDO:subClassOf", source="OMIM:115650", source="M xref: UMLS:C1413785 {source="OMIM:115650", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1855179 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110227", source="MONDO:Redundant", source="OMIM:115650", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -129250,7 +129222,7 @@ xref: Orphanet:217052 {source="OMIM:115660"} xref: Orphanet:98989 {source="MONDO:subClassOf", source="OMIM:115660"} xref: UMLS:C0344523 {source="OMIM:115660", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005129 {source="DOID:0110260", source="MONDO:Redundant", source="OMIM:115660", source="indirect"} ! cataract -is_a: MONDO:0020374 {source="ORDO:98989/btnt"} ! cerulean cataract +is_a: MONDO:0020374 {source="Orphanet:98989/btnt"} ! cerulean cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -129271,7 +129243,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:115665"} xref: Orphanet:98983 {source="MONDO:equivalentObsolete", source="OMIM:115665"} xref: UMLS:C1861833 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:115665"} is_a: MONDO:0005129 {source="DOID:0110228", source="MESH:C538285", source="MONDO:Redundant", source="OMIM:115665", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -129306,8 +129278,8 @@ is_a: MONDO:0005129 {source="DOID:0110234", source="MONDO:Redundant", source="OM intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2411 ! CRYGD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2411 {source="mim2gene_medgen"} ! CRYGD -relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract -relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome +relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract +relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt"} ! cataract - microcornea syndrome property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -129327,7 +129299,7 @@ xref: Orphanet:98990 {source="MONDO:subClassOf", source="OMIM:115800", source="D xref: UMLS:C1861831 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3805409 {source="MONDO:equivalentTo", source="OMIM:115800"} is_a: MONDO:0005129 {source="DOID:0110232", source="MONDO:Redundant", source="OMIM:115800", source="indirect"} ! cataract -is_a: MONDO:0020375 {source="ORDO:98990/btnt"} ! coralliform cataract +is_a: MONDO:0020375 {source="Orphanet:98990/btnt"} ! coralliform cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -129348,7 +129320,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:115900"} xref: UMLS:C1861830 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:115900"} xref: UMLS:C4011454 {source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID:0110237", source="MONDO:Redundant", source="OMIM:115900", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2395 ! CRYBA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2395 {source="mim2gene_medgen"} ! CRYBA2 @@ -129370,7 +129342,7 @@ xref: Orphanet:98994 {source="MONDO:subClassOf", source="OMIM:116100", source="M xref: UMLS:C0524524 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3805410 {source="OMIM:116100", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110240", source="MONDO:Redundant", source="OMIM:116100", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2417 ! CRYGS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2417 {source="mim2gene_medgen"} ! CRYGS @@ -129403,8 +129375,8 @@ is_a: MONDO:0005129 {source="DOID", source="DOID:0110231", source="MESH:C566158" intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4281 ! GJA8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4281 {source="mim2gene_medgen"} ! GJA8 -relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract -relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome +relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract +relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt"} ! cataract - microcornea syndrome property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -129428,8 +129400,8 @@ xref: Orphanet:98984 {source="DOID:0110248", source="MONDO:subClassOf", source=" xref: UMLS:C1861827 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3805411 {source="OMIM:116300", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110248", source="MESH:C566157", source="MONDO:Redundant", source="OMIM:116300", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: MONDO:0020377 ! early-onset partial cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12692 ! VIM @@ -129455,10 +129427,10 @@ xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:116400"} xref: UMLS:C1861826 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3805412 {source="OMIM:116400", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110241", source="MONDO:Redundant", source="OMIM:116400", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract -is_a: MONDO:0020379 {source="MONDO:Redundant", source="ORDO:98995/btnt", source="indirect"} ! early-onset zonular cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020376 {source="Orphanet:98991/btnt"} ! early-onset nuclear cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract +is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt", source="indirect"} ! early-onset zonular cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12762 ! WFS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12762 {source="mim2gene_medgen"} ! WFS1 @@ -129490,7 +129462,7 @@ xref: Orphanet:98993 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: Orphanet:98994 {source="MONDO:subClassOf", source="OMIM:116600", source="MONDO:directSiblingOf"} xref: UMLS:C1861825 {source="NCBI:mim2gene_medline", source="OMIM:116600", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110229", source="MONDO:Redundant", source="OMIM:116600", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3386 ! EPHA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3386 {source="mim2gene_medgen"} ! EPHA2 @@ -129511,7 +129483,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:116700"} xref: UMLS:C0266539 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:116700"} xref: UMLS:C3805373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110242", source="MONDO:Redundant", source="OMIM:116700", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4204 {source="mim2gene_medgen"} ! GCNT2 [Term] @@ -129533,7 +129505,7 @@ xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: UMLS:C0266537 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1861821 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:116800"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110255", source="MESH:C535342", source="MONDO:Redundant", source="OMIM:116800", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5227 ! HSF4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5227 {source="mim2gene_medgen"} ! HSF4 @@ -129581,14 +129553,14 @@ synonym: "Lfa1 immunodeficiency" RELATED [OMIM:116920] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [DOID:0110910, OMIM:116920] xref: DOID:0110910 {source="MONDO:equivalentTo"} xref: GARD:0006893 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D84.8 {source="Orphanet:99842", source="ORDO:99842/attributed", source="ORDO:99842/ntbt"} -xref: MESH:C535887 {source="Orphanet:99842", source="MONDO:equivalentTo", source="ORDO:99842/e"} +xref: ICD10CM:D84.8 {source="Orphanet:99842/attributed", source="Orphanet:99842/ntbt", source="Orphanet:99842"} +xref: MESH:C535887 {source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"} xref: NCIT:C4689 {source="MONDO:equivalentTo"} -xref: OMIM:116920 {source="DOID:0110910", source="Orphanet:99842", source="MONDO:equivalentTo", source="ORDO:99842/e"} +xref: OMIM:116920 {source="DOID:0110910", source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"} xref: Orphanet:2968 {source="MONDO:subClassOf", source="OMIM:116920"} xref: Orphanet:99842 {source="DOID:0110910", source="MONDO:equivalentTo", source="OMIM:116920"} xref: SCTID:234582006 {source="MONDO:equivalentTo"} -xref: UMLS:C0398738 {source="Orphanet:99842", source="MONDO:equivalentTo", source="OMIM:116920", source="NCIT:C4689", source="ORDO:99842/e"} +xref: UMLS:C0398738 {source="Orphanet:99842", source="MONDO:equivalentTo", source="OMIM:116920", source="Orphanet:99842/e", source="NCIT:C4689"} xref: UMLS:C1861766 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017570 {source="DOID:0110910", source="MONDO:Redundant", source="NCIT:C4689", source="Orphanet:99842", source="linkedlifedata"} ! leukocyte adhesion deficiency intersection_of: MONDO:0017570 ! leukocyte adhesion deficiency @@ -129619,10 +129591,10 @@ synonym: "Shy-Magee syndrome" RELATED [GARD:0006014] xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"} xref: EFO:1000855 {source="MONDO:equivalentTo"} xref: GARD:0006014 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:597/inclusion", source="DOID:3529", source="ORDO:597/ntbt", source="Orphanet:597"} +xref: ICD10CM:G71.2 {source="Orphanet:597/ntbt", source="DOID:3529", source="Orphanet:597/inclusion", source="Orphanet:597"} xref: MESH:D020512 {source="MONDO:equivalentTo", source="DOID:3529", source="EFO:1000855"} xref: NCIT:C83010 {source="MONDO:equivalentTo", source="DOID:3529"} -xref: OMIM:117000 {source="MONDO:equivalentTo", source="DOID:3529", source="ORDO:597/e", source="Orphanet:597"} +xref: OMIM:117000 {source="Orphanet:597/e", source="MONDO:equivalentTo", source="DOID:3529", source="Orphanet:597"} xref: Orphanet:178145 {source="OMIM:117000", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:597 {source="OMIM:117000", source="MONDO:equivalentTo"} xref: Orphanet:598 {source="OMIM:117000", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} @@ -129668,12 +129640,12 @@ synonym: "sylvan seizures" EXACT [DOID:3329] synonym: "temporal-central focal epilepsy" EXACT [OMIM:117100] xref: DOID:3329 {source="MONDO:equivalentTo"} xref: GARD:0010287 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.0 {source="ORDO:1945/attributed", source="ORDO:1945/ntbt", source="Orphanet:1945"} +xref: ICD10CM:G40.0 {source="Orphanet:1945", source="Orphanet:1945/attributed", source="Orphanet:1945/ntbt"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D019305 {source="DOID:3329"} xref: NCIT:C116538 {source="MONDO:equivalentTo"} -xref: OMIM:117100 {source="GARD:0010287", source="MONDO:equivalentTo", source="Orphanet:1945", source="ORDO:1945/e"} -xref: OMIM:245570 {source="ORDO:1945/ntbt", source="MONDO:relatedTo", source="Orphanet:1945"} +xref: OMIM:117100 {source="Orphanet:1945/e", source="GARD:0010287", source="MONDO:equivalentTo", source="Orphanet:1945"} +xref: OMIM:245570 {source="MONDO:relatedTo", source="Orphanet:1945", source="Orphanet:1945/ntbt"} xref: Orphanet:1945 {source="OMIM:117100", source="MONDO:equivalentTo"} xref: SCTID:44145005 {source="MONDO:equivalentTo"} xref: UMLS:C0376532 {source="MONDO:equivalentTo", source="Orphanet:1945", source="DOID:3329"} @@ -129703,9 +129675,9 @@ synonym: "spinocerebellar ataxia type 31" EXACT [MONDORULE:2, OMIM:117210] synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210] xref: DOID:0050980 {source="MONDO:equivalentTo"} xref: GARD:0009975 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:217012/attributed", source="ORDO:217012/ntbt", source="Orphanet:217012"} +xref: ICD10CM:G11.8 {source="Orphanet:217012", source="Orphanet:217012/attributed", source="Orphanet:217012/ntbt"} xref: MESH:C566146 {source="MONDO:equivalentTo"} -xref: OMIM:117210 {source="DOID:0050980", source="MONDO:equivalentTo", source="Orphanet:217012", source="ORDO:217012/e"} +xref: OMIM:117210 {source="DOID:0050980", source="Orphanet:217012/e", source="MONDO:equivalentTo", source="Orphanet:217012"} xref: Orphanet:217012 {source="OMIM:117210", source="MONDO:equivalentTo"} xref: SCTID:715826005 {source="MONDO:equivalentTo"} xref: UMLS:C1861736 {source="OMIM:117210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:217012"} @@ -129732,12 +129704,12 @@ synonym: "HOOE" EXACT ABBREVIATION [DOID:0070030] synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [DOID:0070030] xref: DOID:0070030 {source="MONDO:equivalentTo"} xref: GARD:0009169 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="ORDO:97346/attributed", source="ORDO:97346/ntbt"} -xref: ICD10EXP:I68.0* {source="Orphanet:97346", source="ORDO:97346/attributed", source="ORDO:97346/ntbt"} -xref: MESH:C538209 {source="ORDO:97346/e", source="Orphanet:97346", source="MONDO:equivalentTo"} -xref: OMIM:117300 {source="ORDO:97346/e", source="Orphanet:97346", source="MONDO:equivalentTo", source="DOID:0070030"} +xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} +xref: MESH:C538209 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e"} +xref: OMIM:117300 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e", source="DOID:0070030"} xref: Orphanet:97346 {source="OMIM:117300", source="MONDO:equivalentTo"} -xref: UMLS:C1861735 {source="ORDO:97346/e", source="OMIM:117300", source="Orphanet:97346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1861735 {source="OMIM:117300", source="Orphanet:97346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97346/e"} is_a: MONDO:0005620 {source="DC-OMIM:117300", source="DOID:0070030"} ! cerebral amyloid angiopathy is_a: MONDO:0018591 {source="Orphanet:97346"} ! ITM2B amyloidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6174 {source="mim2gene_medgen"} ! ITM2B @@ -129760,9 +129732,9 @@ synonym: "spinocerebellar ataxia 29, congenital nonprogressive" EXACT [OMIM:1173 synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360] xref: DOID:0050978 {source="MONDO:equivalentTo"} xref: GARD:0010480 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.0 {source="ORDO:208513/attributed", source="ORDO:208513/ntbt", source="Orphanet:208513"} +xref: ICD10CM:G11.0 {source="Orphanet:208513/attributed", source="Orphanet:208513/ntbt", source="Orphanet:208513"} xref: MESH:C537206 {source="MONDO:equivalentTo"} -xref: OMIM:117360 {source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513", source="ORDO:208513/e"} +xref: OMIM:117360 {source="Orphanet:208513/e", source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513"} xref: Orphanet:208513 {source="MONDO:equivalentTo", source="OMIM:117360"} xref: SCTID:715825009 {source="MONDO:equivalentTo"} xref: UMLS:C1861732 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:117360", source="Orphanet:208513"} @@ -129825,13 +129797,13 @@ synonym: "cerebrocostomandibular syndrome" EXACT [MONDO:Lexical, OMIM:117650] synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650] xref: DOID:0111248 {source="MONDO:equivalentTo"} xref: GARD:0006026 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1393/attributed", source="ORDO:1393/ntbt", source="Orphanet:1393"} +xref: ICD10CM:Q87.8 {source="Orphanet:1393/attributed", source="Orphanet:1393/ntbt", source="Orphanet:1393"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562538 {source="MONDO:equivalentTo"} -xref: OMIM:117650 {source="MONDO:equivalentTo", source="ORDO:1393/e", source="Orphanet:1393"} +xref: OMIM:117650 {source="Orphanet:1393/e", source="MONDO:equivalentTo", source="Orphanet:1393"} xref: Orphanet:1393 {source="OMIM:117650", source="MONDO:equivalentTo"} xref: SCTID:51780007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265342 {source="OMIM:117650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1393/e", source="Orphanet:1393"} +xref: UMLS:C0265342 {source="OMIM:117650", source="NCBI:mim2gene_medline", source="Orphanet:1393/e", source="MONDO:equivalentTo", source="Orphanet:1393"} is_a: MONDO:0015160 {source="Orphanet:1393", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1393"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -129908,7 +129880,7 @@ xref: OMIM:118100 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="MONDO:subClassOf", source="OMIM:118100"} xref: UMLS:C1861689 {source="OMIM:118100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001029 {source="MESH:C536887", source="MONDO:Redundant", source="OMIM:118100", source="indirect"} ! Klippel-Feil syndrome -is_a: MONDO:0016520 {source="MONDO:Redundant", source="ORDO:2345/btnt"} ! isolated Klippel-Feil syndrome +is_a: MONDO:0016520 {source="MONDO:Redundant", source="Orphanet:2345/btnt"} ! isolated Klippel-Feil syndrome intersection_of: MONDO:0016520 ! isolated Klippel-Feil syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4221 ! GDF6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4221 {source="mim2gene_medgen"} ! GDF6 @@ -129941,12 +129913,12 @@ synonym: "MPZ Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, M synonym: "peroneal muscular atrophy" EXACT EXCLUDE [DOID:0110152] xref: DOID:0110152 {source="MONDO:equivalentTo"} xref: GARD:0001246 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:101082/attributed", source="ORDO:101082/ntbt", source="DOID:0110152", source="Orphanet:101082"} +xref: ICD10CM:G60.0 {source="DOID:0110152", source="Orphanet:101082/attributed", source="Orphanet:101082/ntbt", source="Orphanet:101082"} xref: NCIT:C118782 {source="MONDO:equivalentTo"} -xref: OMIM:118200 {source="MONDO:equivalentTo", source="DOID:0110152", source="ORDO:101082/e", source="Orphanet:101082"} +xref: OMIM:118200 {source="Orphanet:101082/e", source="MONDO:equivalentTo", source="DOID:0110152", source="Orphanet:101082"} xref: Orphanet:101082 {source="OMIM:118200", source="MONDO:equivalentTo", source="DOID:0110152"} xref: UMLS:C0007959 {source="MONDO:subClassOf", source="OMIM:118200"} -xref: UMLS:C0270912 {source="NCIT:C118782", source="OMIM:118200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:101082/e", source="Orphanet:101082"} +xref: UMLS:C0270912 {source="NCIT:C118782", source="OMIM:118200", source="Orphanet:101082/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101082"} is_a: MONDO:0015626 {source="DOID:0110152/inferred", source="MONDO:Redundant", source="NCIT:C118782", source="OMIM:118200", source="Orphanet:101082/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019011 {source="DOID:0110152", source="MONDO:Redundant", source="Orphanet:101082"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 @@ -129990,10 +129962,10 @@ synonym: "HMSN2A1" EXACT ABBREVIATION [DOID:0110154, OMIM:118210] synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110154 {source="MONDO:equivalentTo"} xref: GARD:0001248 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99946/attributed", source="ORDO:99946/ntbt", source="Orphanet:99946", source="DOID:0110154"} +xref: ICD10CM:G60.0 {source="Orphanet:99946", source="DOID:0110154", source="Orphanet:99946/attributed", source="Orphanet:99946/ntbt"} xref: MESH:C566138 {source="MONDO:equivalentTo"} xref: NCIT:C134952 {source="MONDO:equivalentTo"} -xref: OMIM:118210 {source="ORDO:99946/e", source="MONDO:equivalentTo", source="Orphanet:99946", source="GARD:0001248", source="DOID:0110154"} +xref: OMIM:118210 {source="MONDO:equivalentTo", source="Orphanet:99946", source="GARD:0001248", source="DOID:0110154", source="Orphanet:99946/e"} xref: Orphanet:99946 {source="OMIM:118210", source="MONDO:equivalentTo", source="DOID:0110154"} xref: SCTID:717016001 {source="MONDO:equivalentTo"} xref: UMLS:C1861678 {source="OMIM:118210", source="NCBI:mim2gene_medline", source="Orphanet:99946", source="MONDO:notFoundInDiseaseSubset"} @@ -130029,11 +130001,11 @@ synonym: "HMSN1A" EXACT ABBREVIATION [DOID:0110148, OMIM:118220] synonym: "microduplication 17p12" EXACT [DOID:0110148, Orphanet:101081] xref: DOID:0110148 {source="MONDO:equivalentTo"} xref: GARD:0001245 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110148", source="ORDO:101081/attributed", source="ORDO:101081/ntbt", source="Orphanet:101081"} +xref: ICD10CM:G60.0 {source="DOID:0110148", source="Orphanet:101081", source="Orphanet:101081/attributed", source="Orphanet:101081/ntbt"} xref: NCIT:C75468 {source="MONDO:equivalentTo"} -xref: OMIM:118220 {source="DOID:0110148", source="MONDO:equivalentTo", source="Orphanet:101081", source="ORDO:101081/e"} +xref: OMIM:118220 {source="DOID:0110148", source="MONDO:equivalentTo", source="Orphanet:101081", source="Orphanet:101081/e"} xref: Orphanet:101081 {source="DOID:0110148", source="MONDO:equivalentTo", source="OMIM:118220"} -xref: UMLS:C0270911 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101081", source="ORDO:101081/e", source="OMIM:118220", source="NCIT:C75468"} +xref: UMLS:C0270911 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101081", source="OMIM:118220", source="Orphanet:101081/e", source="NCIT:C75468"} is_a: MONDO:0015626 {source="DOID:0110148/inferred", source="MONDO:Redundant", source="NCIT:C75468", source="OMIM:118220", source="Orphanet:101081/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0016950 {source="Orphanet:101081"} ! partial duplication of the short arm of chromosome 17 is_a: MONDO:0019011 {source="DOID:0110148", source="Orphanet:101081"} ! Charcot-Marie-Tooth disease type 1 @@ -130071,13 +130043,13 @@ synonym: "CMT 1E" RELATED [GARD:0009190] synonym: "CMT1E" EXACT ABBREVIATION [DOID:0110153, Orphanet:90658] xref: DOID:0110153 {source="MONDO:equivalentTo"} xref: GARD:0009190 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:90658/attributed", source="ORDO:90658/ntbt", source="DOID:0110153", source="Orphanet:90658"} -xref: MESH:C537986 {source="MONDO:equivalentTo", source="ORDO:90658/e", source="Orphanet:90658"} -xref: MESH:C538078 {source="ORDO:90658/e", source="Orphanet:90658"} -xref: OMIM:118300 {source="MONDO:equivalentTo", source="ORDO:90658/e", source="DOID:0110153", source="Orphanet:90658"} +xref: ICD10CM:G60.0 {source="Orphanet:90658/attributed", source="Orphanet:90658/ntbt", source="DOID:0110153", source="Orphanet:90658"} +xref: MESH:C537986 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"} +xref: MESH:C538078 {source="Orphanet:90658/e", source="Orphanet:90658"} +xref: OMIM:118300 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="DOID:0110153", source="Orphanet:90658"} xref: Orphanet:90658 {source="OMIM:118300", source="MONDO:equivalentTo", source="DOID:0110153"} -xref: UMLS:C1861669 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:90658/e", source="Orphanet:90658"} -xref: UMLS:C2931686 {source="MONDO:equivalentTo", source="ORDO:90658/e", source="Orphanet:90658"} +xref: UMLS:C1861669 {source="NCBI:mim2gene_medline", source="Orphanet:90658/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90658"} +xref: UMLS:C2931686 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"} xref: UMLS:C3495591 {source="OMIM:118300", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90658"} is_a: MONDO:0015626 {source="DOID:0110153/inferred", source="MESH:C537986", source="MONDO:Redundant", source="OMIM:118300", source="Orphanet:90658/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019011 {source="DOID:0110153", source="Orphanet:90658"} ! Charcot-Marie-Tooth disease type 1 @@ -130103,12 +130075,12 @@ subset: gard_rare {source="GARD:0000412"} subset: ordo_disease {source="Orphanet:1221"} synonym: "cheilitis glandularis" EXACT [OMIM:118330] xref: GARD:0000412 {source="MONDO:equivalentTo"} -xref: ICD10CM:K13.0 {source="Orphanet:1221", source="ORDO:1221/ntbt"} -xref: MESH:C535921 {source="ORDO:1221/e", source="Orphanet:1221", source="MONDO:equivalentTo"} -xref: OMIM:118330 {source="ORDO:1221/e", source="Orphanet:1221", source="MONDO:equivalentTo"} +xref: ICD10CM:K13.0 {source="Orphanet:1221/ntbt", source="Orphanet:1221"} +xref: MESH:C535921 {source="Orphanet:1221", source="MONDO:equivalentTo", source="Orphanet:1221/e"} +xref: OMIM:118330 {source="Orphanet:1221", source="MONDO:equivalentTo", source="Orphanet:1221/e"} xref: Orphanet:1221 {source="MONDO:equivalentTo", source="OMIM:118330"} xref: SCTID:26374003 {source="MONDO:equivalentTo"} -xref: UMLS:C0267034 {source="ORDO:1221/e", source="Orphanet:1221", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:118330"} +xref: UMLS:C0267034 {source="Orphanet:1221", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1221/e", source="OMIM:118330"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis xsd:anyURI {source="GARD:0000412"} @@ -130140,14 +130112,14 @@ xref: DOID:1856 {source="MONDO:equivalentTo"} xref: GARD:0006036 {source="MONDO:equivalentTo"} xref: ICD10CM:M27.8 {source="DOID:1856"} xref: ICD9:526.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10070535 {source="ORDO:184/e", source="Orphanet:184"} -xref: MESH:D002636 {source="MONDO:equivalentTo", source="ORDO:184/e", source="Orphanet:184", source="DOID:1856"} +xref: MedDRA:10070535 {source="Orphanet:184", source="Orphanet:184/e"} +xref: MESH:D002636 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"} xref: NCIT:C84630 {source="MONDO:equivalentTo", source="DOID:1856"} -xref: OMIM:118400 {source="MONDO:equivalentTo", source="ORDO:184/e", source="Orphanet:184", source="DOID:1856"} +xref: OMIM:118400 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"} xref: Orphanet:184 {source="OMIM:118400", source="MONDO:equivalentTo"} xref: SCTID:53432004 {source="DOID:1856"} xref: SCTID:76098004 {source="MONDO:equivalentTo", source="DOID:1856"} -xref: UMLS:C0008029 {source="OMIM:118400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:184/e", source="Orphanet:184", source="DOID:1856", source="NCIT:C84630"} +xref: UMLS:C0008029 {source="OMIM:118400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="NCIT:C84630", source="Orphanet:184/e"} is_a: MONDO:0000426 {source="DOID:1856", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0015161 {source="Orphanet:184", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -130172,12 +130144,12 @@ synonym: "Chiari malformation type 1 with syringomyelia" RELATED [OMIM:118420] synonym: "Chiari malformation type I" EXACT [OMIM:118420, Orphanet:268882] synonym: "Cm1" RELATED [OMIM:118420] synonym: "Cm1 with syringomyelia" RELATED [OMIM:118420] -xref: ICD10CM:G95.0 {source="Orphanet:268882", source="ORDO:268882/attributed", source="ORDO:268882/ntbt"} -xref: MedDRA:10056944 {source="Orphanet:268882", source="ORDO:268882/e"} -xref: OMIM:118420 {source="Orphanet:268882", source="MONDO:equivalentTo", source="ORDO:268882/e"} +xref: ICD10CM:G95.0 {source="Orphanet:268882", source="Orphanet:268882/attributed", source="Orphanet:268882/ntbt"} +xref: MedDRA:10056944 {source="Orphanet:268882", source="Orphanet:268882/e"} +xref: OMIM:118420 {source="Orphanet:268882", source="MONDO:equivalentTo", source="Orphanet:268882/e"} xref: Orphanet:268882 {source="OMIM:118420", source="MONDO:equivalentTo"} xref: SCTID:253185002 {source="MONDO:equivalentTo"} -xref: UMLS:C0750929 {source="OMIM:118420", source="Orphanet:268882", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:268882/e"} +xref: UMLS:C0750929 {source="OMIM:118420", source="Orphanet:268882", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268882/e"} xref: UMLS:C1861647 {source="OMIM:118420", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000115 {source="DC-OMIM:118420", source="linkedlifedata"} ! Chiari malformation is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect @@ -130213,17 +130185,17 @@ synonym: "Watson Alagille syndrome" RELATED [GARD:0000804] synonym: "Watson-Miller syndrome" RELATED [GARD:0000804] xref: DOID:9245 {source="MONDO:equivalentTo"} xref: GARD:0000804 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q44.7 {source="ORDO:52/inclusion", source="DOID:9245", source="ORDO:52/ntbt", source="Orphanet:52"} +xref: ICD10CM:Q44.7 {source="Orphanet:52/ntbt", source="DOID:9245", source="Orphanet:52/inclusion", source="Orphanet:52"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053870 {source="Orphanet:52", source="ORDO:52/e"} -xref: MESH:D016738 {source="MONDO:equivalentTo", source="DOID:9245", source="Orphanet:52", source="ORDO:52/e"} +xref: MedDRA:10053870 {source="Orphanet:52/e", source="Orphanet:52"} +xref: MESH:D016738 {source="Orphanet:52/e", source="MONDO:equivalentTo", source="DOID:9245", source="Orphanet:52"} xref: NCIT:C35139 {source="MONDO:equivalentTo", source="DOID:9245"} -xref: OMIM:118450 {source="MONDO:superClassOf", source="ORDO:52/e"} -xref: OMIM:610205 {source="MONDO:superClassOf", source="DOID:9245", source="ORDO:52/btnt", source="Orphanet:52"} +xref: OMIM:118450 {source="Orphanet:52/e", source="MONDO:superClassOf"} +xref: OMIM:610205 {source="MONDO:superClassOf", source="Orphanet:52/btnt", source="DOID:9245", source="Orphanet:52"} xref: OMIMPS:118450 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:52 {source="MONDO:equivalentTo", source="OMIM:118450"} xref: SCTID:31742004 {source="MONDO:equivalentTo", source="DOID:9245"} -xref: UMLS:C0085280 {source="MONDO:equivalentTo", source="NCIT:C35139", source="DOID:9245", source="Orphanet:52", source="OMIM:118450", source="ORDO:52/e"} +xref: UMLS:C0085280 {source="Orphanet:52/e", source="MONDO:equivalentTo", source="NCIT:C35139", source="DOID:9245", source="Orphanet:52", source="OMIM:118450"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35139", source="indirect"} ! syndromic disease is_a: MONDO:0004868 {source="Orphanet:52", source="indirect"} ! biliary tract disorder is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -130263,10 +130235,10 @@ synonym: "hereditary calcium pyrophosphate deposition" EXACT [Orphanet:1416] synonym: "hereditary CC" EXACT [Orphanet:1416] synonym: "Pseudogout, familial" RELATED [GARD:0001292] xref: GARD:0001292 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M11.1 {source="ORDO:1416/e", source="Orphanet:1416", source="ORDO:1416/specific"} +xref: ICD10CM:M11.1 {source="Orphanet:1416/e", source="Orphanet:1416/specific", source="Orphanet:1416"} xref: MESH:C563162 {source="MONDO:equivalentTo"} -xref: OMIM:118600 {source="MONDO:equivalentTo", source="ORDO:1416/e", source="Orphanet:1416"} -xref: OMIM:600668 {source="ORDO:1416/btnt", source="MONDO:superClassOf", source="Orphanet:1416"} +xref: OMIM:118600 {source="Orphanet:1416/e", source="MONDO:equivalentTo", source="Orphanet:1416"} +xref: OMIM:600668 {source="MONDO:superClassOf", source="Orphanet:1416/btnt", source="Orphanet:1416"} xref: Orphanet:1416 {source="OMIM:118600", source="MONDO:equivalentTo"} xref: UMLS:C0553730 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1416"} xref: UMLS:C0856830 {source="OMIM:118600", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1416"} @@ -130304,9 +130276,9 @@ synonym: "chondrodysplasia punctata, autosomal dominant" EXACT [MONDO:patterns/a synonym: "chondrodysplasia punctata, Sheffield type" EXACT [Orphanet:79344] xref: DOID:0060293 {source="MONDO:equivalentTo"} xref: GARD:0001298 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:79344/attributed", source="ORDO:79344/ntbt", source="DOID:0060293", source="Orphanet:79344"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:79344/attributed", source="Orphanet:79344/ntbt", source="DOID:0060293", source="Orphanet:79344"} xref: MESH:C563248 {source="MONDO:equivalentTo"} -xref: OMIM:118650 {source="MONDO:equivalentTo", source="ORDO:79344/e", source="DOID:0060293", source="Orphanet:79344"} +xref: OMIM:118650 {source="Orphanet:79344/e", source="MONDO:equivalentTo", source="DOID:0060293", source="Orphanet:79344"} xref: OMIM:118651 {source="MONDO:superClassOf", source="DOID:0060293"} xref: OMIM:602497 {source="MONDO:superClassOf", source="DOID:0060293"} xref: Orphanet:79344 {source="GARD:0001298", source="OMIM:118650", source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:0060293"} @@ -130326,10 +130298,10 @@ name: chondrodysplasia punctata, tibial-metacarpal type subset: ordo_malformation_syndrome {source="Orphanet:79346"} synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651] synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651] -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:79346/attributed", source="ORDO:79346/ntbt", source="Orphanet:79346"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:79346/attributed", source="Orphanet:79346/ntbt", source="Orphanet:79346"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562961 {source="MONDO:equivalentTo"} -xref: OMIM:118651 {source="MONDO:equivalentTo", source="ORDO:79346/e", source="Orphanet:79346"} +xref: OMIM:118651 {source="Orphanet:79346/e", source="MONDO:equivalentTo", source="Orphanet:79346"} xref: Orphanet:79346 {source="OMIM:118651", source="MONDO:equivalentTo"} xref: SCTID:254083002 {source="MONDO:equivalentTo"} xref: UMLS:C0432224 {source="OMIM:118651", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79346"} @@ -130380,7 +130352,7 @@ xref: MESH:C566126 {source="MONDO:equivalentTo"} xref: OMIM:118830 {source="MONDO:equivalentTo"} xref: Orphanet:411 {source="MONDO:relatedTo", source="OMIM:118830"} xref: UMLS:C1861560 {source="NCBI:mim2gene_medline", source="OMIM:118830", source="MONDO:equivalentTo"} -is_a: MONDO:0018637 {source="ORDO:444490/btnt"} ! familial chylomicronemia syndrome +is_a: MONDO:0018637 {source="Orphanet:444490/btnt"} ! familial chylomicronemia syndrome property_value: confidence "5.6" xsd:double [Term] @@ -130434,12 +130406,12 @@ subset: ordo_disease {source="Orphanet:66630"} synonym: "clavicle, pseudarthrosis of, congenital" RELATED [OMIM:118980] synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630] synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630] -xref: ICD10CM:Q74.0 {source="ORDO:66630/inclusion", source="ORDO:66630/ntbt", source="Orphanet:66630"} +xref: ICD10CM:Q74.0 {source="Orphanet:66630/ntbt", source="Orphanet:66630/inclusion", source="Orphanet:66630"} xref: MESH:C562548 {source="MONDO:equivalentTo"} -xref: OMIM:118980 {source="MONDO:equivalentTo", source="ORDO:66630/e", source="Orphanet:66630"} +xref: OMIM:118980 {source="Orphanet:66630/e", source="MONDO:equivalentTo", source="Orphanet:66630"} xref: Orphanet:66630 {source="OMIM:118980", source="MONDO:equivalentTo"} xref: SCTID:70794004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265565 {source="OMIM:118980", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:66630/e", source="Orphanet:66630"} +xref: UMLS:C0265565 {source="OMIM:118980", source="Orphanet:66630/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:66630"} is_a: MONDO:0018454 {source="Orphanet:66630"} ! dysostosis of genetic origin relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -130477,7 +130449,7 @@ xref: MESH:C536425 {source="MONDO:equivalentTo"} xref: OMIM:119100 {source="MONDO:equivalentTo"} xref: Orphanet:3329 {source="MONDO:subClassOf", source="OMIM:119100"} xref: UMLS:C1861553 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:119100"} -is_a: MONDO:0018050 {source="ORDO:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome +is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome property_value: confidence "2.659611992945326" xsd:double [Term] @@ -130518,8 +130490,8 @@ synonym: "popliteal pterygium syndrome, autosomal dominant" EXACT [MONDO:pattern synonym: "popliteal web syndrome" EXACT [Orphanet:1300] synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119500] xref: GARD:0003242 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:1300", source="ORDO:1300/attributed", source="ORDO:1300/ntbt"} -xref: OMIM:119500 {source="ORDO:1300/e", source="Orphanet:1300", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:1300/attributed", source="Orphanet:1300/ntbt", source="Orphanet:1300"} +xref: OMIM:119500 {source="Orphanet:1300", source="MONDO:equivalentTo", source="Orphanet:1300/e"} xref: Orphanet:1300 {source="OMIM:119500", source="MONDO:equivalentTo"} xref: SCTID:718222000 {source="MONDO:equivalentTo"} xref: UMLS:C0265259 {source="MONDO:subClassOf", source="OMIM:119500", source="NCBI:mim2gene_medline"} @@ -130598,13 +130570,13 @@ synonym: "Cpls syndrome" RELATED [OMIM:119550] synonym: "syngnathia" RELATED [OMIM:119550] xref: DOID:0080313 {source="MONDO:equivalentTo"} xref: GARD:0001391 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2016", source="ORDO:2016/attributed", source="ORDO:2016/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2016/attributed", source="Orphanet:2016/ntbt", source="Orphanet:2016"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563047 {source="MONDO:equivalentTo"} -xref: OMIM:119550 {source="Orphanet:2016", source="ORDO:2016/e", source="MONDO:equivalentTo"} +xref: OMIM:119550 {source="Orphanet:2016", source="MONDO:equivalentTo", source="Orphanet:2016/e"} xref: Orphanet:2016 {source="MONDO:equivalentTo", source="OMIM:119550"} xref: SCTID:403772000 {source="MONDO:equivalentTo"} -xref: UMLS:C0795898 {source="Orphanet:2016", source="NCBI:mim2gene_medline", source="ORDO:2016/e", source="MONDO:equivalentTo", source="OMIM:119550"} +xref: UMLS:C0795898 {source="Orphanet:2016", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2016/e", source="OMIM:119550"} is_a: MONDO:0015161 {source="Orphanet:2016", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2016"} ! orofacial clefting syndrome is_a: MONDO:0043008 {source="Orphanet:2016"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -130621,9 +130593,9 @@ synonym: "cleft velum" EXACT [DOID:0110214] synonym: "cleft velum palatinum" EXACT [DOID:0110214, Orphanet:99772] synonym: "soft cleft palate" EXACT [DOID:0110214] xref: DOID:0110214 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q35.3 {source="DOID:0110214", source="MONDO:equivalentTo", source="ORDO:99772/e", source="Orphanet:99772"} +xref: ICD10CM:Q35.3 {source="DOID:0110214", source="Orphanet:99772/e", source="MONDO:equivalentTo", source="Orphanet:99772"} xref: MESH:C562950 {source="MONDO:equivalentTo"} -xref: OMIM:119570 {source="DOID:0110214", source="ORDO:99772/btnt", source="MONDO:equivalentTo", source="Orphanet:99772"} +xref: OMIM:119570 {source="DOID:0110214", source="MONDO:equivalentTo", source="Orphanet:99772/btnt", source="Orphanet:99772"} xref: Orphanet:99772 {source="DOID:0110214", source="MONDO:equivalentTo", source="OMIM:119570"} xref: SCTID:253997002 {source="MONDO:equivalentTo"} xref: UMLS:C0432098 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:119570", source="Orphanet:99772"} @@ -130657,13 +130629,13 @@ synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:00020 synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997] xref: DOID:0080344 {source="MONDO:equivalentTo"} xref: GARD:0002071 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1997/attributed", source="ORDO:1997/ntbt", source="Orphanet:1997"} +xref: ICD10CM:Q87.8 {source="Orphanet:1997", source="Orphanet:1997/attributed", source="Orphanet:1997/ntbt"} xref: MESH:C536188 {source="MONDO:equivalentTo"} -xref: OMIM:119580 {source="ORDO:1997/e", source="MONDO:superClassOf", source="GARD:0002071", source="Orphanet:1997"} +xref: OMIM:119580 {source="MONDO:superClassOf", source="GARD:0002071", source="Orphanet:1997", source="Orphanet:1997/e"} xref: OMIMPS:119580 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0080344"} xref: Orphanet:1997 {source="MONDO:equivalentTo", source="GARD:0002071", source="OMIM:119580"} xref: SCTID:717911008 {source="MONDO:equivalentTo"} -xref: UMLS:C1861536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1997/e", source="GARD:0002071", source="Orphanet:1997", source="OMIM:119580"} +xref: UMLS:C1861536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0002071", source="Orphanet:1997", source="OMIM:119580", source="Orphanet:1997/e"} is_a: MONDO:0000426 {source="DOID:0080344"} ! autosomal dominant disease is_a: MONDO:0002254 {source="DOID:0080344", source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1997", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -130690,16 +130662,16 @@ synonym: "dysplasia cleidocranial" RELATED [GARD:0006118] synonym: "Marie-Sainton disease" EXACT [DOID:13994] xref: DOID:13994 {source="MONDO:equivalentTo"} xref: GARD:0006118 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.0 {source="Orphanet:1452", source="ORDO:1452/inclusion", source="ORDO:1452/ntbt", source="DOID:13994"} +xref: ICD10CM:Q74.0 {source="Orphanet:1452/ntbt", source="Orphanet:1452", source="DOID:13994", source="Orphanet:1452/inclusion"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D002973 {source="ORDO:1452/e", source="Orphanet:1452", source="MONDO:equivalentTo", source="DOID:13994"} +xref: MESH:D002973 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"} xref: NCIT:C75020 {source="MONDO:equivalentTo", source="DOID:13994"} -xref: OMIM:119600 {source="ORDO:1452/e", source="Orphanet:1452", source="MONDO:equivalentTo", source="DOID:13994"} -xref: OMIM:216330 {source="Orphanet:1452", source="MONDO:superClassOf", source="ORDO:1452/btnt", source="DOID:13994"} +xref: OMIM:119600 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"} +xref: OMIM:216330 {source="Orphanet:1452/btnt", source="Orphanet:1452", source="MONDO:superClassOf", source="DOID:13994"} xref: Orphanet:1452 {source="OMIM:119600", source="MONDO:equivalentTo", source="DOID:13994"} xref: SCTID:240193006 {source="DOID:13994"} xref: SCTID:65976001 {source="MONDO:equivalentTo", source="DOID:13994"} -xref: UMLS:C0008928 {source="ORDO:1452/e", source="Orphanet:1452", source="NCBI:mim2gene_medline", source="OMIM:119600", source="MONDO:equivalentTo", source="NCIT:C75020", source="DOID:13994"} +xref: UMLS:C0008928 {source="Orphanet:1452", source="NCBI:mim2gene_medline", source="OMIM:119600", source="MONDO:equivalentTo", source="NCIT:C75020", source="Orphanet:1452/e", source="DOID:13994"} xref: UMLS:C1838416 {source="OMIM:119600", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1861516 {source="OMIM:119600", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000001 {source="MONDO:0020014-obsoleted"} ! disease or disorder @@ -130723,12 +130695,12 @@ synonym: "rhizomelic shortness with clavicular defect" EXACT [Orphanet:1453] synonym: "Wallis Zieff Goldblatt syndrome" RELATED [GARD:0005532] synonym: "Wallis-Zieff-Goldblatt syndrome" EXACT [Orphanet:1453] xref: GARD:0005532 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="Orphanet:1453", source="ORDO:1453/attributed", source="ORDO:1453/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:1453", source="Orphanet:1453/attributed", source="Orphanet:1453/ntbt"} xref: MESH:C536428 {source="MONDO:equivalentTo"} -xref: OMIM:119650 {source="Orphanet:1453", source="ORDO:1453/e", source="MONDO:equivalentTo"} +xref: OMIM:119650 {source="Orphanet:1453", source="MONDO:equivalentTo", source="Orphanet:1453/e"} xref: Orphanet:1453 {source="MONDO:equivalentTo", source="OMIM:119650"} xref: SCTID:719471002 {source="MONDO:equivalentTo"} -xref: UMLS:C1861515 {source="Orphanet:1453", source="ORDO:1453/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:119650"} +xref: UMLS:C1861515 {source="Orphanet:1453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1453/e", source="OMIM:119650"} is_a: MONDO:0019697 {source="Orphanet:1453"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome xsd:anyURI {source="GARD:0005532"} @@ -130769,7 +130741,7 @@ xref: SCTID:268341008 {source="DOID:11836"} xref: SCTID:33163000 {source="DOID:11836"} xref: SCTID:397932003 {source="MONDO:equivalentTo", source="DOID:11836"} xref: UMLS:C0009081 {source="NCBI:mim2gene_medline", source="DOID:11836", source="MONDO:notFoundInDiseaseSubset", source="OMIM:119800", source="NCIT:C84641"} -is_a: MONDO:0016046 {source="ORDO:199315/btnt"} ! familial clubfoot with or without associated lower limb anomalies +is_a: MONDO:0016046 {source="Orphanet:199315/btnt"} ! familial clubfoot with or without associated lower limb anomalies relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9004 {source="mim2gene_medgen"} ! PITX1 property_value: confidence "5.6000000000000005" xsd:double @@ -130783,8 +130755,8 @@ synonym: "clubbing of digits" RELATED [OMIM:119900] synonym: "digital clubbing, isolated congenital" RELATED [OMIM:119900] synonym: "isolated congenital acropachy" EXACT [Orphanet:217059] synonym: "isolated congenital nail clubbing" EXACT [Orphanet:217059] -xref: ICD10CM:Q68.1 {source="ORDO:217059/inclusion", source="ORDO:217059/ntbt", source="Orphanet:217059"} -xref: OMIM:119900 {source="MONDO:equivalentTo", source="ORDO:217059/e", source="Orphanet:217059"} +xref: ICD10CM:Q68.1 {source="Orphanet:217059/ntbt", source="Orphanet:217059/inclusion", source="Orphanet:217059"} +xref: OMIM:119900 {source="Orphanet:217059/e", source="MONDO:equivalentTo", source="Orphanet:217059"} xref: Orphanet:217059 {source="MONDO:equivalentTo", source="OMIM:119900"} xref: UMLS:C0345408 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:217059"} xref: UMLS:C1861514 {source="NCBI:mim2gene_medline", source="OMIM:119900", source="MONDO:notFoundInDiseaseSubset"} @@ -130817,16 +130789,16 @@ synonym: "coarctation of aorta" RELATED [OMIM:120000] synonym: "coarctation of the aorta" RELATED [GARD:0005828] xref: EFO:1001267 {source="MONDO:equivalentTo"} xref: GARD:0005828 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q25.1 {source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e"} +xref: ICD10CM:Q25.1 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: ICD9:747.10 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10009807 {source="Orphanet:1457", source="ORDO:1457/e"} -xref: MESH:C531623 {source="Orphanet:1457", source="ORDO:1457/e"} -xref: MESH:D001017 {source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e"} +xref: MedDRA:10009807 {source="Orphanet:1457", source="Orphanet:1457/e"} +xref: MESH:C531623 {source="Orphanet:1457", source="Orphanet:1457/e"} +xref: MESH:D001017 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: NCIT:C84567 {source="MONDO:equivalentTo"} -xref: OMIM:120000 {source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e"} +xref: OMIM:120000 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"} xref: Orphanet:1457 {source="MONDO:equivalentTo", source="OMIM:120000"} xref: SCTID:7305005 {source="MONDO:equivalentTo"} -xref: UMLS:C0003492 {source="NCIT:C84567", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1457", source="ORDO:1457/e", source="OMIM:120000"} +xref: UMLS:C0003492 {source="NCIT:C84567", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1457", source="OMIM:120000", source="Orphanet:1457/e"} xref: UMLS:C2930803 {source="Orphanet:1457", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0020286 {source="Orphanet:1457"} ! aortic malformation @@ -130844,7 +130816,7 @@ synonym: "Cochleosaccular Degeneration of the inner Ear with progressive catarac synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [OMIM:120040] xref: GARD:0009418 {source="MONDO:equivalentTo"} xref: MESH:C536432 {source="MONDO:equivalentTo"} -xref: OMIM:120040 {source="Orphanet:3233", source="ORDO:3233/e", source="GARD:0009418", source="MONDO:equivalentTo"} +xref: OMIM:120040 {source="Orphanet:3233", source="GARD:0009418", source="MONDO:equivalentTo", source="Orphanet:3233/e"} xref: Orphanet:3233 {source="OMIM:120040", source="MONDO:equivalentTo"} xref: SCTID:715528001 {source="MONDO:equivalentTo"} xref: UMLS:C1861512 {source="GARD:0009418", source="NCBI:mim2gene_medline", source="OMIM:120040", source="MONDO:equivalentTo"} @@ -130914,7 +130886,7 @@ xref: Orphanet:194 {source="MONDO:subClassOf", source="OMIM:120200"} xref: Orphanet:98942 {source="MONDO:superClassOf", source="OMIM:120200"} xref: Orphanet:98944 {source="MONDO:superClassOf", source="OMIM:120200"} xref: UMLS:C0009363 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:120200"} -is_a: MONDO:0001476 {source="ORDO:194/btnt"} ! coloboma +is_a: MONDO:0001476 {source="Orphanet:194/btnt"} ! coloboma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.045454545454545636" xsd:double @@ -130928,8 +130900,8 @@ synonym: "coloboma of macula" EXACT [OMIM:120300] synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436] synonym: "macular coloboma" RELATED [GARD:0001436] xref: GARD:0001436 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q14.8 {source="ORDO:98945/attributed", source="ORDO:98945/ntbt", source="Orphanet:98945"} -xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="ORDO:98945/w"} +xref: ICD10CM:Q14.8 {source="Orphanet:98945", source="Orphanet:98945/attributed", source="Orphanet:98945/ntbt"} +xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="Orphanet:98945/w"} xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"} xref: UMLS:C1852767 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:120300"} is_a: MONDO:0001476 {source="Orphanet:98945"} ! coloboma @@ -130957,14 +130929,14 @@ synonym: "renal-coloboma syndrome" RELATED [OMIM:120330] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [DOID:0090006, OMIM:120330] xref: DOID:0090006 {source="MONDO:equivalentTo"} xref: GARD:0004106 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q60.4 {source="Orphanet:1475", source="MONDO:relatedTo", source="ORDO:1475/attributed", source="ORDO:1475/ntbt", source="DOID:0090006"} +xref: ICD10CM:Q60.4 {source="Orphanet:1475", source="MONDO:relatedTo", source="Orphanet:1475/attributed", source="Orphanet:1475/ntbt", source="DOID:0090006"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537168 {source="MONDO:equivalentTo"} xref: NCIT:C123230 {source="MONDO:equivalentTo"} -xref: OMIM:120330 {source="Orphanet:1475", source="ORDO:1475/e", source="MONDO:equivalentTo", source="DOID:0090006"} +xref: OMIM:120330 {source="Orphanet:1475", source="MONDO:equivalentTo", source="Orphanet:1475/e", source="DOID:0090006"} xref: Orphanet:1475 {source="MONDO:equivalentTo", source="OMIM:120330", source="DOID:0090006"} xref: SCTID:446449009 {source="MONDO:equivalentTo"} -xref: UMLS:C1852759 {source="Orphanet:1475", source="ORDO:1475/e", source="NCIT:C123230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120330"} +xref: UMLS:C1852759 {source="Orphanet:1475", source="NCIT:C123230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1475/e", source="OMIM:120330"} is_a: MONDO:0000426 {source="DOID:0090006", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123230", source="indirect"} ! syndromic disease is_a: MONDO:0019721 {source="Orphanet:1475"} ! syndromic renal or urinary tract malformation @@ -130983,12 +130955,12 @@ synonym: "apical dystrophy" RELATED [OMIM:120400] synonym: "coloboma of macula with type B brachydactyly" RELATED [OMIM:120400] synonym: "Sorsby syndrome" EXACT [OMIM:120400, Orphanet:1471] xref: GARD:0001437 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:1471/attributed", source="ORDO:1471/ntbt", source="Orphanet:1471"} -xref: MESH:C535969 {source="MONDO:equivalentTo", source="Orphanet:1471", source="ORDO:1471/e"} -xref: OMIM:120400 {source="MONDO:equivalentTo", source="Orphanet:1471", source="ORDO:1471/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:1471/attributed", source="Orphanet:1471/ntbt", source="Orphanet:1471"} +xref: MESH:C535969 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"} +xref: OMIM:120400 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"} xref: Orphanet:1471 {source="MONDO:equivalentTo", source="OMIM:120400"} xref: SCTID:717785002 {source="MONDO:equivalentTo"} -xref: UMLS:C1852752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120400", source="Orphanet:1471", source="ORDO:1471/e"} +xref: UMLS:C1852752 {source="Orphanet:1471/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120400", source="Orphanet:1471"} is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy property_value: confidence "7.125" xsd:double @@ -131043,11 +131015,11 @@ synonym: "uveal coloboma-cleft lip/palate-intellectual disability syndrome" RELA synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" RELATED DEPRECATED [GARD:0001440] xref: DOID:0111249 {source="MONDO:equivalentTo"} xref: GARD:0001440 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q12.2 {source="Orphanet:1473", source="ORDO:1473/attributed", source="ORDO:1473/ntbt"} +xref: ICD10CM:Q12.2 {source="Orphanet:1473", source="Orphanet:1473/attributed", source="Orphanet:1473/ntbt"} xref: MESH:C535971 {source="MONDO:equivalentTo"} -xref: OMIM:120433 {source="Orphanet:1473", source="ORDO:1473/e", source="MONDO:equivalentTo"} +xref: OMIM:120433 {source="Orphanet:1473", source="MONDO:equivalentTo", source="Orphanet:1473/e"} xref: Orphanet:1473 {source="MONDO:equivalentTo", source="OMIM:120433"} -xref: UMLS:C0795902 {source="Orphanet:1473", source="ORDO:1473/e", source="MONDO:equivalentTo"} +xref: UMLS:C0795902 {source="Orphanet:1473", source="MONDO:equivalentTo", source="Orphanet:1473/e"} xref: UMLS:C1852750 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3805432 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:120433"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1473", source="indirect"} ! syndromic intellectual disability @@ -131135,8 +131107,8 @@ subset: ordo_disease {source="Orphanet:459353"} synonym: "complement component 4, partial deficiency OF" RELATED [OMIM:120790] synonym: "Quincke edema" EXACT EXCLUDE [DOID:0060002] xref: DOID:0060002 {source="MONDO:equivalentTo"} -xref: ICD10CM:D84.1 {source="ORDO:459353/inclusion", source="ORDO:459353/ntbt", source="Orphanet:459353"} -xref: OMIM:120790 {source="MONDO:equivalentTo", source="Orphanet:459353", source="ORDO:459353/e"} +xref: ICD10CM:D84.1 {source="Orphanet:459353/inclusion", source="Orphanet:459353", source="Orphanet:459353/ntbt"} +xref: OMIM:120790 {source="Orphanet:459353/e", source="MONDO:equivalentTo", source="Orphanet:459353"} xref: Orphanet:169147 {source="MONDO:subClassOf", source="OMIM:120790", source="MONDO:directSiblingOf"} xref: Orphanet:459353 {source="MONDO:equivalentTo"} xref: UMLS:C1852700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120790"} @@ -131197,14 +131169,14 @@ synonym: "distal arthrogryposis type 9" EXACT [Orphanet:115] synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELATED [GARD:0005899] xref: DOID:0111595 {source="MONDO:equivalentTo"} xref: GARD:0005899 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q68.8 {source="Orphanet:115", source="ORDO:115/attributed", source="ORDO:115/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:115", source="Orphanet:115/attributed", source="Orphanet:115/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="ORDO:115/e"} +xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"} xref: NCIT:C129865 {source="MONDO:equivalentTo"} -xref: OMIM:121050 {source="Orphanet:115", source="MONDO:equivalentTo", source="ORDO:115/e"} +xref: OMIM:121050 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"} xref: Orphanet:115 {source="OMIM:121050", source="MONDO:equivalentTo"} xref: SCTID:205821003 {source="MONDO:equivalentTo"} -xref: UMLS:C0220668 {source="Orphanet:115", source="OMIM:121050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129865", source="ORDO:115/e"} +xref: UMLS:C0220668 {source="Orphanet:115", source="OMIM:121050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129865", source="Orphanet:115/e"} is_a: MONDO:0008779 {source="NCIT:C129865"} ! arthrogryposis is_a: MONDO:0017310 {source="Orphanet:115"} ! Marfan and Marfan-related disorder is_a: MONDO:0019942 {source="DC-OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis @@ -131296,12 +131268,12 @@ subset: ordo_disease {source="Orphanet:1551"} synonym: "copper deficiency, familial benign" RELATED [OMIM:121270] synonym: "familial benign hypocupremia" RELATED [GARD:0001522] xref: GARD:0001522 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.0 {source="Orphanet:1551", source="ORDO:1551/attributed", source="ORDO:1551/ntbt"} -xref: MESH:C535468 {source="ORDO:1551/e", source="Orphanet:1551", source="MONDO:equivalentTo"} -xref: OMIM:121270 {source="ORDO:1551/e", source="Orphanet:1551", source="MONDO:equivalentTo"} +xref: ICD10CM:E83.0 {source="Orphanet:1551/attributed", source="Orphanet:1551/ntbt", source="Orphanet:1551"} +xref: MESH:C535468 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"} +xref: OMIM:121270 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"} xref: Orphanet:1551 {source="OMIM:121270", source="MONDO:equivalentTo"} xref: SCTID:763531001 {source="MONDO:equivalentTo"} -xref: UMLS:C1852576 {source="ORDO:1551/e", source="OMIM:121270", source="Orphanet:1551", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1852576 {source="OMIM:121270", source="Orphanet:1551", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1551/e"} is_a: MONDO:0017762 {source="Orphanet:1551"} ! disorder of copper metabolism property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign xsd:anyURI {source="GARD:0001522"} @@ -131328,16 +131300,16 @@ synonym: "porphyria hepatica coproporphyria" RELATED [GARD:0006619] synonym: "porphyria hepatica II" RELATED [GARD:0006619] xref: DOID:13269 {source="MONDO:equivalentTo"} xref: GARD:0006619 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.2 {source="ORDO:79273/attributed", source="ORDO:79273/ntbt", source="Orphanet:79273"} +xref: ICD10CM:E80.2 {source="Orphanet:79273", source="Orphanet:79273/attributed", source="Orphanet:79273/ntbt"} xref: ICD10CM:E80.29 {source="DOID:13269"} -xref: MedDRA:10019866 {source="ORDO:79273/e", source="Orphanet:79273"} -xref: MESH:D046349 {source="ORDO:79273/e", source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269"} +xref: MedDRA:10019866 {source="Orphanet:79273", source="Orphanet:79273/e"} +xref: MESH:D046349 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"} xref: NCIT:C84759 {source="MONDO:equivalentTo", source="DOID:13269"} -xref: OMIM:121300 {source="ORDO:79273/e", source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269"} +xref: OMIM:121300 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"} xref: Orphanet:79273 {source="MONDO:equivalentTo", source="OMIM:121300"} xref: SCTID:238055004 {source="DOID:13269"} xref: SCTID:7425008 {source="MONDO:equivalentTo", source="DOID:13269"} -xref: UMLS:C0162531 {source="NCIT:C84759", source="ORDO:79273/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79273", source="OMIM:121300", source="DOID:13269"} +xref: UMLS:C0162531 {source="NCIT:C84759", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79273", source="OMIM:121300", source="DOID:13269", source="Orphanet:79273/e"} xref: UMLS:C0342859 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:121300"} is_a: MONDO:0002520 {source="DOID:13269", source="MESH:D046349", source="Orphanet:79273", source="linkedlifedata"} ! hepatic porphyria is_a: MONDO:0019142 {source="DOID:13269/inferred", source="MESH:D046349/inferred", source="MONDO:Redundant", source="NCIT:C84759", source="Orphanet:79273/inferred"} ! inherited porphyria @@ -131377,7 +131349,7 @@ xref: OMIM:121400 {source="MONDO:equivalentTo"} xref: Orphanet:53691 {source="MONDO:subClassOf", source="OMIM:121400"} xref: UMLS:C1852557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:121400"} is_a: MONDO:0000733 {source="MONDO:Redundant", source="OMIM:121400", source="indirect"} ! cornea plana -is_a: MONDO:0018888 {source="ORDO:53691/btnt"} ! congenital cornea plana +is_a: MONDO:0018888 {source="Orphanet:53691/btnt"} ! congenital cornea plana property_value: confidence "19.99999999999998" xsd:double [Term] @@ -131408,14 +131380,14 @@ synonym: "Schnyder crystalline corneal dystrophy" EXACT [DOID:0060456, OMIM:1218 synonym: "Schnyder crystalline dystrophy sine crystals" EXACT [Orphanet:98967] xref: DOID:0060456 {source="MONDO:equivalentTo"} xref: GARD:0009277 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="ORDO:98967/attributed", source="ORDO:98967/ntbt", source="Orphanet:98967"} -xref: MESH:C535475 {source="ORDO:98967/e", source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456"} -xref: OMIM:121800 {source="ORDO:98967/e", source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456"} +xref: ICD10CM:H18.5 {source="Orphanet:98967", source="Orphanet:98967/attributed", source="Orphanet:98967/ntbt"} +xref: MESH:C535475 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"} +xref: OMIM:121800 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"} xref: Orphanet:98967 {source="MONDO:equivalentTo", source="DOID:0060456", source="OMIM:121800"} xref: SCTID:39662004 {source="DOID:0060456"} xref: SCTID:419395007 {source="MONDO:equivalentTo", source="DOID:0060456"} xref: SCTID:420212002 {source="DOID:0060456"} -xref: UMLS:C0271287 {source="NCBI:mim2gene_medline", source="ORDO:98967/e", source="Orphanet:98967", source="DOID:0060456", source="MONDO:notFoundInDiseaseSubset", source="OMIM:121800"} +xref: UMLS:C0271287 {source="NCBI:mim2gene_medline", source="Orphanet:98967", source="DOID:0060456", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98967/e", source="OMIM:121800"} is_a: MONDO:0020213 {source="DOID:0060456", source="Orphanet:98967"} ! stromal corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30791 {source="mim2gene_medgen"} ! UBIAD1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -131440,9 +131412,9 @@ synonym: "microcystic corneal dystrophy" EXACT [DOID:0060447] synonym: "microcystic dystrophy of the cornea" RELATED [GARD:0009732] xref: DOID:0060447 {source="MONDO:equivalentTo"} xref: GARD:0009732 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="ORDO:98956/attributed", source="ORDO:98956/ntbt", source="Orphanet:98956", source="DOID:0060447"} +xref: ICD10CM:H18.5 {source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/attributed", source="Orphanet:98956/ntbt"} xref: MESH:C535477 {source="MONDO:equivalentTo", source="DOID:0060447"} -xref: OMIM:121820 {source="ORDO:98956/e", source="MONDO:equivalentTo", source="Orphanet:98956", source="DOID:0060447"} +xref: OMIM:121820 {source="MONDO:equivalentTo", source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/e"} xref: Orphanet:98956 {source="MONDO:equivalentTo", source="DOID:0060447", source="OMIM:121820"} xref: SCTID:373426005 {source="MONDO:equivalentTo"} xref: UMLS:C0521723 {source="NCBI:mim2gene_medline", source="Orphanet:98956", source="MONDO:notFoundInDiseaseSubset", source="OMIM:121820"} @@ -131466,13 +131438,13 @@ synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [DOID:0060448] synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] xref: DOID:0060448 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="ORDO:98970/attributed", source="ORDO:98970/ntbt", source="Orphanet:98970"} +xref: ICD10CM:H18.5 {source="Orphanet:98970/attributed", source="Orphanet:98970/ntbt", source="Orphanet:98970"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563256 {source="MONDO:equivalentTo", source="DOID:0060448"} -xref: OMIM:121850 {source="MONDO:equivalentTo", source="DOID:0060448", source="ORDO:98970/e", source="Orphanet:98970"} +xref: OMIM:121850 {source="Orphanet:98970/e", source="MONDO:equivalentTo", source="DOID:0060448", source="Orphanet:98970"} xref: Orphanet:98970 {source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850"} xref: SCTID:417183007 {source="MONDO:equivalentTo", source="DOID:0060448"} -xref: UMLS:C1562113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850", source="ORDO:98970/e", source="Orphanet:98970"} +xref: UMLS:C1562113 {source="Orphanet:98970/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850", source="Orphanet:98970"} is_a: MONDO:0020213 {source="DOID:0060448", source="Orphanet:98970", source="linkedlifedata"} ! stromal corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23785 {source="mim2gene_medgen"} ! PIKFYVE relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -131499,9 +131471,9 @@ synonym: "granular corneal dystrophy, type 1" RELATED [OMIM:121900] synonym: "Groenouw type I corneal dystrophy" RELATED [GARD:0009677] xref: DOID:0080530 {source="MONDO:equivalentTo"} xref: GARD:0009677 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="Orphanet:98962", source="ORDO:98962/attributed", source="ORDO:98962/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98962/attributed", source="Orphanet:98962/ntbt", source="Orphanet:98962"} xref: MESH:C537304 {source="MONDO:equivalentTo"} -xref: OMIM:121900 {source="Orphanet:98962", source="MONDO:equivalentTo", source="ORDO:98962/e"} +xref: OMIM:121900 {source="Orphanet:98962", source="MONDO:equivalentTo", source="Orphanet:98962/e"} xref: Orphanet:98962 {source="OMIM:121900", source="MONDO:equivalentTo"} xref: SCTID:419039007 {source="MONDO:equivalentTo"} xref: UMLS:C1641846 {source="OMIM:121900", source="Orphanet:98962", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -131558,17 +131530,17 @@ synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688] synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451] xref: DOID:0060451 {source="MONDO:equivalentTo"} xref: GARD:0009688 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:98954", source="ORDO:98954/attributed", source="ORDO:98954/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98954/attributed", source="Orphanet:98954/ntbt", source="Orphanet:98954"} xref: ICD10CM:H18.52 {source="DOID:0060451"} xref: ICD9:371.51 {source="DOID:0060451"} -xref: MESH:D053559 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="MONDO:equivalentTo"} +xref: MESH:D053559 {source="DOID:0060451", source="Orphanet:98954", source="MONDO:equivalentTo", source="Orphanet:98954/e"} xref: NCIT:C84795 {source="DOID:0060451", source="MONDO:equivalentTo"} -xref: OMIM:122100 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="MONDO:superClassOf"} +xref: OMIM:122100 {source="DOID:0060451", source="Orphanet:98954", source="MONDO:superClassOf", source="Orphanet:98954/e"} xref: OMIMPS:122100 {source="MONDO:equivalentTo"} xref: Orphanet:98954 {source="DOID:0060451", source="MONDO:equivalentTo", source="OMIM:122100"} xref: SCTID:1674008 {source="DOID:0060451", source="MONDO:equivalentTo"} xref: SCTID:193833008 {source="DOID:0060451"} -xref: UMLS:C0339277 {source="DOID:0060451", source="ORDO:98954/e", source="Orphanet:98954", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122100", source="NCIT:C84795"} +xref: UMLS:C0339277 {source="DOID:0060451", source="Orphanet:98954", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122100", source="Orphanet:98954/e", source="NCIT:C84795"} is_a: MONDO:0000763 {source="DOID:0060451"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98954", source="linkedlifedata"} ! superficial corneal dystrophy relationship: has_modifier MONDO:0021152 {source="OMIMPS:122100"} ! inherited @@ -131590,14 +131562,14 @@ synonym: "LCD" RELATED ABBREVIATION [OMIM:122200] synonym: "Lcd1" EXACT [MONDO:Lexical, OMIM:122200, Orphanet:98964] synonym: "LCDI" EXACT ABBREVIATION [Orphanet:98964] xref: GARD:0009678 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="Orphanet:98964", source="ORDO:98964/attributed", source="ORDO:98964/ntbt"} -xref: MESH:C537881 {source="ORDO:98964/e", source="Orphanet:98964", source="MONDO:equivalentTo"} -xref: OMIM:122200 {source="ORDO:98964/e", source="Orphanet:98964", source="MONDO:equivalentTo"} -xref: OMIM:608471 {source="Orphanet:98964", source="MONDO:superClassOf", source="ORDO:98964/btnt"} +xref: ICD10CM:H18.5 {source="Orphanet:98964/attributed", source="Orphanet:98964/ntbt", source="Orphanet:98964"} +xref: MESH:C537881 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"} +xref: OMIM:122200 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"} +xref: OMIM:608471 {source="Orphanet:98964/btnt", source="Orphanet:98964", source="MONDO:superClassOf"} xref: Orphanet:98964 {source="MONDO:equivalentTo", source="OMIM:122200"} xref: SCTID:419197009 {source="MONDO:equivalentTo"} -xref: UMLS:C1690006 {source="ORDO:98964/e", source="NCBI:mim2gene_medline", source="Orphanet:98964", source="MONDO:equivalentTo", source="OMIM:122200"} -xref: UMLS:C2931650 {source="ORDO:98964/e", source="Orphanet:98964", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1690006 {source="NCBI:mim2gene_medline", source="Orphanet:98964", source="MONDO:equivalentTo", source="OMIM:122200", source="Orphanet:98964/e"} +xref: UMLS:C2931650 {source="Orphanet:98964", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98964/e"} xref: UMLS:CN207224 {source="MONDO:equivalentTo"} is_a: MONDO:0004686 ! lattice corneal dystrophy is_a: MONDO:0020213 {source="Orphanet:98964", source="linkedlifedata", source="linkedlifedata/inferred"} ! stromal corneal dystrophy @@ -131616,9 +131588,9 @@ synonym: "epithelial recurrent erosion dystrophy" EXACT [MONDO:Lexical, OMIM:122 synonym: "ERED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122400, Orphanet:293381] synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381] xref: DOID:0070337 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:293381", source="ORDO:293381/attributed", source="ORDO:293381/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:293381/attributed", source="Orphanet:293381/ntbt", source="Orphanet:293381"} xref: MESH:C565155 {source="MONDO:equivalentTo"} -xref: OMIM:122400 {source="ORDO:293381/e", source="Orphanet:293381", source="MONDO:equivalentTo"} +xref: OMIM:122400 {source="Orphanet:293381", source="MONDO:equivalentTo", source="Orphanet:293381/e"} xref: Orphanet:293381 {source="MONDO:equivalentTo", source="OMIM:122400"} xref: SCTID:715908008 {source="MONDO:equivalentTo"} xref: UMLS:C1852551 {source="Orphanet:293381", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122400"} @@ -131639,9 +131611,9 @@ synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness synonym: "Ramos Arroyo Clark syndrome" RELATED [GARD:0004636] synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430] xref: GARD:0004636 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1051", source="ORDO:1051/attributed", source="ORDO:1051/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1051/attributed", source="Orphanet:1051/ntbt", source="Orphanet:1051"} xref: MESH:C535286 {source="MONDO:equivalentTo"} -xref: OMIM:122430 {source="MONDO:equivalentTo", source="Orphanet:1051", source="ORDO:1051/e"} +xref: OMIM:122430 {source="Orphanet:1051/e", source="MONDO:equivalentTo", source="Orphanet:1051"} xref: Orphanet:1051 {source="MONDO:equivalentTo", source="OMIM:122430"} xref: UMLS:C1852543 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2930866 {source="MONDO:equivalentTo", source="OMIM:122430", source="Orphanet:1051"} @@ -131663,14 +131635,14 @@ synonym: "corneo-dermato-osseous syndrome" EXACT [Orphanet:3194] synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440] synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531] xref: GARD:0001531 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="ORDO:3194/attributed", source="ORDO:3194/ntbt", source="Orphanet:3194"} -xref: MESH:C536444 {source="Orphanet:3194", source="ORDO:3194/e"} -xref: MESH:C537488 {source="MONDO:equivalentTo", source="Orphanet:3194", source="ORDO:3194/e"} -xref: OMIM:122440 {source="MONDO:equivalentTo", source="Orphanet:3194", source="ORDO:3194/e"} +xref: ICD10CM:H18.5 {source="Orphanet:3194", source="Orphanet:3194/attributed", source="Orphanet:3194/ntbt"} +xref: MESH:C536444 {source="Orphanet:3194/e", source="Orphanet:3194"} +xref: MESH:C537488 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} +xref: OMIM:122440 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} xref: Orphanet:3194 {source="MONDO:equivalentTo", source="OMIM:122440"} xref: SCTID:723584003 {source="MONDO:equivalentTo"} -xref: UMLS:C1852542 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:122440", source="Orphanet:3194", source="ORDO:3194/e"} -xref: UMLS:C2931506 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3194", source="ORDO:3194/e"} +xref: UMLS:C1852542 {source="Orphanet:3194/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:122440", source="Orphanet:3194"} +xref: UMLS:C2931506 {source="Orphanet:3194/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3194"} is_a: MONDO:0019287 {source="Orphanet:3194"} ! ectodermal dysplasia syndrome is_a: MONDO:0020215 {source="Orphanet:3194"} ! syndromic corneal dystrophy property_value: confidence "7.125" xsd:double @@ -131684,9 +131656,9 @@ synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450] synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034] synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450] xref: GARD:0010034 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G50.8 {source="Orphanet:231013", source="ORDO:231013/attributed", source="ORDO:231013/ntbt"} +xref: ICD10CM:G50.8 {source="Orphanet:231013/attributed", source="Orphanet:231013/ntbt", source="Orphanet:231013"} xref: MESH:C536440 {source="MONDO:equivalentTo"} -xref: OMIM:122450 {source="ORDO:231013/e", source="Orphanet:231013", source="MONDO:equivalentTo"} +xref: OMIM:122450 {source="Orphanet:231013", source="MONDO:equivalentTo", source="Orphanet:231013/e"} xref: Orphanet:231013 {source="OMIM:122450", source="MONDO:equivalentTo"} xref: SCTID:763218005 {source="MONDO:equivalentTo"} xref: UMLS:C1852541 {source="OMIM:122450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -131702,9 +131674,9 @@ name: idiopathic spontaneous coronary artery dissection subset: ordo_disease {source="Orphanet:458718"} synonym: "coronary artery dissection, spontaneous" RELATED [OMIM:122455] synonym: "idiopathic SCAD" EXACT [Orphanet:458718] -xref: ICD10CM:I25.4 {source="ORDO:458718/ntbt", source="Orphanet:458718"} +xref: ICD10CM:I25.4 {source="Orphanet:458718", source="Orphanet:458718/ntbt"} xref: MESH:C565153 {source="MONDO:equivalentTo"} -xref: OMIM:122455 {source="MONDO:equivalentTo", source="Orphanet:458718", source="ORDO:458718/e"} +xref: OMIM:122455 {source="MONDO:equivalentTo", source="Orphanet:458718", source="Orphanet:458718/e"} xref: Orphanet:458718 {source="MONDO:equivalentTo"} xref: UMLS:C1852540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:122455"} is_a: MONDO:0024471 {source="Orphanet:458718"} ! non-inflammatory vasculopathy @@ -131758,12 +131730,12 @@ synonym: "costocoracoid ligament congenitally short" RELATED [GARD:0001551] synonym: "costocoracoid ligament, congenitally short" RELATED [OMIM:122580] synonym: "fixation of the scapula to the first rib by a congenitally short costocoracoid ligament" RELATED [GARD:0001551] xref: GARD:0001551 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="ORDO:2391/ntbt", source="Orphanet:2391"} -xref: MESH:C536448 {source="MONDO:equivalentTo", source="Orphanet:2391", source="ORDO:2391/e"} -xref: OMIM:122580 {source="MONDO:equivalentTo", source="Orphanet:2391", source="ORDO:2391/e"} +xref: ICD10CM:Q68.8 {source="Orphanet:2391", source="Orphanet:2391/ntbt"} +xref: MESH:C536448 {source="Orphanet:2391/e", source="MONDO:equivalentTo", source="Orphanet:2391"} +xref: OMIM:122580 {source="Orphanet:2391/e", source="MONDO:equivalentTo", source="Orphanet:2391"} xref: Orphanet:2391 {source="OMIM:122580", source="MONDO:equivalentTo"} xref: SCTID:725101002 {source="MONDO:equivalentTo"} -xref: UMLS:C1852523 {source="OMIM:122580", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2391", source="ORDO:2391/e"} +xref: UMLS:C1852523 {source="Orphanet:2391/e", source="OMIM:122580", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2391"} is_a: MONDO:0015929 {source="Orphanet:2391"} ! thoracic malformation property_value: confidence "7.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short xsd:anyURI {source="GARD:0001551"} @@ -131836,9 +131808,9 @@ subset: gard_rare {source="GARD:0001558"} subset: ordo_malformation_syndrome {source="Orphanet:1508"} synonym: "coxoauricular syndrome" EXACT [OMIM:122780] xref: GARD:0001558 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:1508/attributed", source="ORDO:1508/ntbt", source="Orphanet:1508"} +xref: ICD10CM:Q87.1 {source="Orphanet:1508/attributed", source="Orphanet:1508/ntbt", source="Orphanet:1508"} xref: MESH:C565148 {source="MONDO:equivalentTo"} -xref: OMIM:122780 {source="MONDO:equivalentTo", source="ORDO:1508/e", source="Orphanet:1508"} +xref: OMIM:122780 {source="Orphanet:1508/e", source="MONDO:equivalentTo", source="Orphanet:1508"} xref: Orphanet:1508 {source="OMIM:122780", source="MONDO:equivalentTo"} xref: SCTID:732248005 {source="MONDO:equivalentTo"} xref: UMLS:C1852513 {source="OMIM:122780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1508"} @@ -131876,13 +131848,13 @@ synonym: "features of flat facial profile, hypertelorism, hypoplastic nose with synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529] xref: DOID:0111336 {source="MONDO:equivalentTo"} xref: GARD:0001571 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:1529", source="ORDO:1529/attributed", source="ORDO:1529/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:1529/attributed", source="Orphanet:1529/ntbt", source="Orphanet:1529"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536453 {source="MONDO:equivalentTo", source="Orphanet:1529", source="ORDO:1529/e"} -xref: OMIM:122880 {source="MONDO:equivalentTo", source="Orphanet:1529", source="ORDO:1529/e"} +xref: MESH:C536453 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} +xref: OMIM:122880 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} xref: Orphanet:1529 {source="MONDO:equivalentTo", source="OMIM:122880"} xref: SCTID:702362004 {source="MONDO:equivalentTo"} -xref: UMLS:C1852510 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:122880", source="Orphanet:1529", source="ORDO:1529/e"} +xref: UMLS:C1852510 {source="Orphanet:1529/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:122880", source="Orphanet:1529"} is_a: MONDO:0015161 {source="Orphanet:1529", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019589 {source="Orphanet:1529"} ! syndromic genetic hearing loss is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1529", source="Orphanet:1529/inferred"} ! disorder of development or morphogenesis @@ -131904,9 +131876,9 @@ synonym: "dysostosis Stanescu type" RELATED [GARD:0002016] synonym: "osteosclerosis, Stanescu type" RELATED [OMIM:122900] synonym: "Stanescu osteosclerosis" EXACT [Orphanet:1798] xref: GARD:0002016 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:1798/attributed", source="ORDO:1798/ntbt", source="Orphanet:1798"} +xref: ICD10CM:Q78.8 {source="Orphanet:1798", source="Orphanet:1798/attributed", source="Orphanet:1798/ntbt"} xref: MESH:C562974 {source="MONDO:equivalentTo"} -xref: OMIM:122900 {source="MONDO:equivalentTo", source="Orphanet:1798", source="ORDO:1798/e"} +xref: OMIM:122900 {source="MONDO:equivalentTo", source="Orphanet:1798", source="Orphanet:1798/e"} xref: Orphanet:1798 {source="MONDO:equivalentTo", source="OMIM:122900"} xref: SCTID:254124008 {source="MONDO:equivalentTo"} xref: UMLS:C0432263 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1798", source="OMIM:122900"} @@ -131938,9 +131910,9 @@ id: MONDO:0007398 name: craniorhiny subset: ordo_malformation_syndrome {source="Orphanet:157832"} synonym: "craniorhiny" EXACT [OMIM:123050] -xref: ICD10CM:Q30.8 {source="ORDO:157832/ntbt", source="Orphanet:157832"} +xref: ICD10CM:Q30.8 {source="Orphanet:157832", source="Orphanet:157832/ntbt"} xref: MESH:C565144 {source="MONDO:equivalentTo"} -xref: OMIM:123050 {source="ORDO:157832/e", source="MONDO:equivalentTo", source="Orphanet:157832"} +xref: OMIM:123050 {source="MONDO:equivalentTo", source="Orphanet:157832", source="Orphanet:157832/e"} xref: Orphanet:157832 {source="OMIM:123050", source="MONDO:equivalentTo"} xref: UMLS:C1852501 {source="OMIM:123050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157832"} is_a: MONDO:0003847 ! Mendelian disease @@ -131965,10 +131937,10 @@ xref: SCTID:57219006 {source="MONDO:equivalentTo"} xref: UMLS:C0010278 {source="MONDO:subClassOf", source="OMIM:123100"} xref: UMLS:CN029978 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:123100", source="indirect"} ! craniosynostosis -is_a: MONDO:0018112 {source="ORDO:35093/btnt"} ! isolated scaphocephaly -is_a: MONDO:0018113 {source="ORDO:35098/btnt"} ! isolated plagiocephaly -is_a: MONDO:0018114 {source="ORDO:35099/btnt"} ! isolated brachycephaly -is_a: MONDO:0018971 {source="ORDO:63440/btnt"} ! isolated oxycephaly +is_a: MONDO:0018112 {source="Orphanet:35093/btnt"} ! isolated scaphocephaly +is_a: MONDO:0018113 {source="Orphanet:35098/btnt"} ! isolated plagiocephaly +is_a: MONDO:0018114 {source="Orphanet:35099/btnt"} ! isolated brachycephaly +is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12428 {source="mim2gene_medgen"} ! TWIST1 property_value: confidence "3.2857142857142865" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2659 xsd:anyURI @@ -131985,14 +131957,14 @@ synonym: "Jackson-Weiss syndrome" EXACT [MONDO:Lexical, OMIM:123150] synonym: "JWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:123150, Orphanet:1540] xref: DOID:0111337 {source="MONDO:equivalentTo"} xref: GARD:0006796 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1540", source="ORDO:1540/attributed", source="ORDO:1540/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1540/attributed", source="Orphanet:1540/ntbt", source="Orphanet:1540"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537559 {source="ORDO:1540/e", source="Orphanet:1540", source="MONDO:equivalentTo"} +xref: MESH:C537559 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"} xref: NCIT:C123814 {source="MONDO:equivalentTo"} -xref: OMIM:123150 {source="ORDO:1540/e", source="Orphanet:1540", source="MONDO:equivalentTo"} +xref: OMIM:123150 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"} xref: Orphanet:1540 {source="OMIM:123150", source="MONDO:equivalentTo"} xref: SCTID:709105005 {source="MONDO:equivalentTo"} -xref: UMLS:C0795998 {source="NCIT:C123814", source="OMIM:123150", source="ORDO:1540/e", source="Orphanet:1540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0795998 {source="NCIT:C123814", source="OMIM:123150", source="Orphanet:1540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1540/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123814", source="indirect"} ! syndromic disease is_a: MONDO:0019796 {source="Orphanet:1540"} ! acrocephalosyndactyly property_value: confidence "8.375" xsd:double @@ -132013,10 +131985,10 @@ synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical, OMIM:123155 synonym: "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" RELATED [GARD:0001592] xref: GARD:0000998 {source="MONDO:equivalentTo"} xref: GARD:0001592 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q03.1 {source="ORDO:1538/attributed", source="ORDO:1538/ntbt", source="Orphanet:1538"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="ORDO:1538/attributed", source="ORDO:1538/ntbt", source="Orphanet:1538"} +xref: ICD10CM:Q03.1 {source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"} xref: MESH:C563973 {source="MONDO:equivalentTo"} -xref: OMIM:123155 {source="MONDO:equivalentTo", source="Orphanet:1538", source="ORDO:1538/e", source="GARD:0001592"} +xref: OMIM:123155 {source="Orphanet:1538/e", source="MONDO:equivalentTo", source="Orphanet:1538", source="GARD:0001592"} xref: Orphanet:1538 {source="MONDO:equivalentTo", source="OMIM:123155", source="GARD:0001592"} xref: SCTID:720813007 {source="MONDO:equivalentTo"} xref: UMLS:C1838347 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:123155"} @@ -132054,8 +132026,8 @@ synonym: "Creutzfeldt-Jakob disease, variant" RELATED [OMIM:123400] synonym: "Creutzfeldt-Jakob disease, variant, resistance to" EXACT [OMIM:123400, OMIM:genemap2] synonym: "hereditary Creutzfeldt Jacob disease" EXACT [MONDO:patterns/hereditary] synonym: "inherited CJD" EXACT [Orphanet:282166] -xref: ICD10CM:A81.0 {source="ORDO:282166/attributed", source="ORDO:282166/ntbt", source="Orphanet:282166"} -xref: OMIM:123400 {source="MONDO:equivalentTo", source="Orphanet:282166", source="ORDO:282166/e"} +xref: ICD10CM:A81.0 {source="Orphanet:282166", source="Orphanet:282166/attributed", source="Orphanet:282166/ntbt"} +xref: OMIM:123400 {source="MONDO:equivalentTo", source="Orphanet:282166", source="Orphanet:282166/e"} xref: Orphanet:204 {source="MONDO:superClassOf", source="OMIM:123400"} xref: Orphanet:282166 {source="MONDO:equivalentTo", source="OMIM:123400"} xref: SCTID:715807002 {source="MONDO:equivalentTo"} @@ -132097,18 +132069,18 @@ synonym: "monosomy 5p" RELATED [Orphanet:281] synonym: "monosomy type 5p" EXACT [MONDORULE:4, Orphanet:281] xref: DOID:12580 {source="MONDO:equivalentTo"} xref: GARD:0006213 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.4 {source="DOID:12580", source="ORDO:281/ntbt", source="Orphanet:281", source="ORDO:281/inclusion"} +xref: ICD10CM:Q93.4 {source="Orphanet:281/inclusion", source="DOID:12580", source="Orphanet:281", source="Orphanet:281/ntbt"} xref: ICD9:758.31 {source="DOID:12580", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10011385 {source="ORDO:281/e", source="Orphanet:281"} -xref: MESH:C538482 {source="ORDO:281/e", source="Orphanet:281"} -xref: MESH:D003410 {source="ORDO:281/e", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281"} +xref: MedDRA:10011385 {source="Orphanet:281", source="Orphanet:281/e"} +xref: MESH:C538482 {source="Orphanet:281", source="Orphanet:281/e"} +xref: MESH:D003410 {source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"} xref: NCIT:C34518 {source="DOID:12580", source="MONDO:equivalentTo"} -xref: OMIM:123450 {source="ORDO:281/e", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281"} +xref: OMIM:123450 {source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"} xref: Orphanet:281 {source="OMIM:123450", source="MONDO:equivalentTo"} xref: SCTID:70173007 {source="DOID:12580", source="MONDO:equivalentTo"} -xref: UMLS:C0010314 {source="NCIT:C34518", source="NCBI:mim2gene_medline", source="OMIM:123450", source="ORDO:281/e", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281"} -xref: UMLS:C2931860 {source="ORDO:281/e", source="Orphanet:281", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0010314 {source="NCIT:C34518", source="NCBI:mim2gene_medline", source="OMIM:123450", source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"} +xref: UMLS:C2931860 {source="Orphanet:281", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:281/e"} xref: UMLS:CN776901 {source="MONDO:equivalentTo"} is_a: MONDO:0000761 {source="DOID:12580"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34518", source="indirect"} ! syndromic disease @@ -132135,10 +132107,10 @@ synonym: "Crouzon syndrome" EXACT [OMIM:123500] synonym: "Crouzon's disease" RELATED [DOID:2339] xref: DOID:2339 {source="MONDO:equivalentTo"} xref: GARD:0006206 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.1 {source="Orphanet:207", source="ORDO:207/inclusion", source="ORDO:207/ntbt", source="DOID:2339"} +xref: ICD10CM:Q75.1 {source="Orphanet:207/ntbt", source="Orphanet:207/inclusion", source="Orphanet:207", source="DOID:2339"} xref: MESH:D003394 {source="MONDO:equivalentTo", source="DOID:2339"} xref: NCIT:C84653 {source="MONDO:equivalentTo", source="DOID:2339"} -xref: OMIM:123500 {source="ORDO:207/e", source="Orphanet:207", source="MONDO:equivalentTo", source="DOID:2339"} +xref: OMIM:123500 {source="Orphanet:207", source="MONDO:equivalentTo", source="Orphanet:207/e", source="DOID:2339"} xref: Orphanet:207 {source="MONDO:equivalentTo", source="OMIM:123500"} xref: SCTID:28861008 {source="MONDO:equivalentTo", source="DOID:2339"} xref: UMLS:C0010273 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:2339", source="OMIM:123500", source="NCIT:C84653"} @@ -132176,17 +132148,17 @@ synonym: "Meltzer syndrome" RELATED [OMIM:123550] synonym: "mixed cryoglobulinemia" EXACT [Orphanet:91138] synonym: "primary cryoglobulinemia" EXACT [Orphanet:91138] xref: GARD:0006386 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="ORDO:91138/ntbt", source="Orphanet:91138"} +xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:91138/ntbt", source="Orphanet:91138"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10027756 {source="ORDO:91138/e", source="Orphanet:91138"} +xref: MedDRA:10027756 {source="Orphanet:91138/e", source="Orphanet:91138"} xref: MESH:C565141 {source="MONDO:equivalentTo"} -xref: OMIM:123550 {source="MONDO:equivalentTo", source="ORDO:91138/e", source="Orphanet:91138"} +xref: OMIM:123550 {source="Orphanet:91138/e", source="MONDO:equivalentTo", source="Orphanet:91138"} xref: Orphanet:91138 {source="OMIM:123550", source="MONDO:equivalentTo"} xref: SCTID:190815001 {source="MONDO:equivalentTo"} xref: UMLS:C0272258 {source="MONDO:equivalentTo"} xref: UMLS:C0340992 {source="MONDO:equivalentTo", source="Orphanet:91138"} xref: UMLS:C0343208 {source="MONDO:equivalentTo", source="Orphanet:91138"} -xref: UMLS:C0543697 {source="ORDO:91138/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91138"} +xref: UMLS:C0543697 {source="Orphanet:91138/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91138"} xref: UMLS:C1852456 {source="OMIM:123550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91138"} is_a: MONDO:0015491 {source="Orphanet:91138"} ! immune complex mediated vasculitis is_a: MONDO:0019724 {source="Orphanet:91138"} ! secondary glomerular disease @@ -132214,9 +132186,9 @@ synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [Orphanet:1547] synonym: "Tonoki Ohura Niikawa syndrome" RELATED [GARD:0008174] synonym: "Tonoki-Ohura-Niikawa syndrome" EXACT [Orphanet:1547] xref: GARD:0008174 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1547/attributed", source="ORDO:1547/ntbt", source="Orphanet:1547"} +xref: ICD10CM:Q87.8 {source="Orphanet:1547", source="Orphanet:1547/attributed", source="Orphanet:1547/ntbt"} xref: MESH:C536219 {source="MONDO:equivalentTo"} -xref: OMIM:123560 {source="MONDO:equivalentTo", source="Orphanet:1547", source="ORDO:1547/e"} +xref: OMIM:123560 {source="MONDO:equivalentTo", source="Orphanet:1547", source="Orphanet:1547/e"} xref: Orphanet:1547 {source="OMIM:123560", source="MONDO:equivalentTo"} xref: SCTID:725096002 {source="MONDO:equivalentTo"} xref: UMLS:C1852454 {source="NCBI:mim2gene_medline", source="OMIM:123560", source="MONDO:equivalentTo", source="Orphanet:1547"} @@ -132236,9 +132208,9 @@ synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [OMIM: synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [OMIM:123570] synonym: "nonsyndromic cryptophthalmia" EXACT [MONDO:patterns/isolated] xref: DOID:0111717 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="Orphanet:91396", source="ORDO:91396/inclusion", source="ORDO:91396/ntbt"} +xref: ICD10CM:Q11.2 {source="Orphanet:91396/inclusion", source="Orphanet:91396/ntbt", source="Orphanet:91396"} xref: MESH:C565138 {source="MONDO:equivalentTo"} -xref: OMIM:123570 {source="ORDO:91396/e", source="Orphanet:91396", source="MONDO:equivalentTo"} +xref: OMIM:123570 {source="Orphanet:91396", source="MONDO:equivalentTo", source="Orphanet:91396/e"} xref: Orphanet:91396 {source="OMIM:123570", source="MONDO:equivalentTo"} xref: SCTID:718691008 {source="MONDO:equivalentTo"} xref: UMLS:C0311249 {source="Orphanet:91396", source="MONDO:notFoundInDiseaseSubset"} @@ -132265,7 +132237,7 @@ xref: ICD10CM:Q82.8 {source="DOID:0070130"} xref: OMIM:123700 {source="DOID:0070130", source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="MONDO:subClassOf", source="OMIM:123700"} xref: UMLS:C3276539 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:123700"} -is_a: MONDO:0019571 {source="DOID:0070130", source="MONDO:Redundant", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa +is_a: MONDO:0019571 {source="DOID:0070130", source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa is_a: MONDO:0100237 {source="DOID:0070130/inferred", source="MONDO:Redundant", source="OMIM:123700", source="indirect"} ! inherited cutis laxa intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3327 ! ELN @@ -132289,11 +132261,11 @@ synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [OMIM:123790] synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [GARD:0000332] xref: DOID:0050660 {source="MONDO:equivalentTo"} xref: GARD:0000332 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1555/attributed", source="ORDO:1555/ntbt", source="Orphanet:1555"} +xref: ICD10CM:Q87.8 {source="Orphanet:1555", source="Orphanet:1555/attributed", source="Orphanet:1555/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565129 {source="MONDO:equivalentTo"} xref: NCIT:C123813 {source="MONDO:equivalentTo"} -xref: OMIM:123790 {source="DOID:0050660", source="ORDO:1555/e", source="MONDO:equivalentTo", source="Orphanet:1555"} +xref: OMIM:123790 {source="DOID:0050660", source="MONDO:equivalentTo", source="Orphanet:1555", source="Orphanet:1555/e"} xref: Orphanet:1555 {source="OMIM:123790", source="MONDO:equivalentTo"} xref: SCTID:703528008 {source="MONDO:equivalentTo"} xref: UMLS:C1852406 {source="NCIT:C123813", source="OMIM:123790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1555"} @@ -132318,12 +132290,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2674"} synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [OMIM:123853] synonym: "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" RELATED [GARD:0009487] xref: GARD:0009487 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2674", source="ORDO:2674/attributed", source="ORDO:2674/ntbt"} -xref: MESH:C536229 {source="Orphanet:2674", source="ORDO:2674/e", source="MONDO:equivalentTo"} -xref: OMIM:123853 {source="Orphanet:2674", source="ORDO:2674/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2674", source="Orphanet:2674/attributed", source="Orphanet:2674/ntbt"} +xref: MESH:C536229 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"} +xref: OMIM:123853 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"} xref: Orphanet:2674 {source="MONDO:equivalentTo", source="OMIM:123853"} xref: SCTID:732261005 {source="MONDO:equivalentTo"} -xref: UMLS:C1852396 {source="Orphanet:2674", source="ORDO:2674/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:123853"} +xref: UMLS:C1852396 {source="Orphanet:2674", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2674/e", source="OMIM:123853"} is_a: MONDO:0015161 {source="Orphanet:2674", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020120 {source="Orphanet:2674", source="Orphanet:2674/inferred"} ! skeletal muscle disorder is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2674", source="Orphanet:2674/inferred"} ! disorder of development or morphogenesis @@ -132348,13 +132320,13 @@ synonym: "osteolysis, massive" RELATED [OMIM:123880] synonym: "progressive massive osteolysis" EXACT [Orphanet:73] synonym: "vanishing bone disease" EXACT [Orphanet:73] xref: GARD:0006542 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M89.5 {source="ORDO:73/attributed", source="ORDO:73/ntbt", source="Orphanet:73"} +xref: ICD10CM:M89.5 {source="Orphanet:73/attributed", source="Orphanet:73/ntbt", source="Orphanet:73"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071283 {source="ORDO:73/e", source="Orphanet:73"} -xref: OMIM:123880 {source="MONDO:equivalentTo", source="ORDO:73/e", source="Orphanet:73"} +xref: MedDRA:10071283 {source="Orphanet:73/e", source="Orphanet:73"} +xref: OMIM:123880 {source="Orphanet:73/e", source="MONDO:equivalentTo", source="Orphanet:73"} xref: Orphanet:73 {source="OMIM:123880", source="MONDO:equivalentTo"} xref: SCTID:1515008 {source="MONDO:equivalentTo"} -xref: UMLS:C0029438 {source="OMIM:123880", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:73/e", source="Orphanet:73"} +xref: UMLS:C0029438 {source="OMIM:123880", source="NCBI:mim2gene_medline", source="Orphanet:73/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:73"} is_a: MONDO:0002013 {source="Orphanet:73"} ! lymphangioma is_a: MONDO:0003157 {source="MESH:D010015"} ! disappearing bone disease is_a: MONDO:0005554 {source="Orphanet:73"} ! rheumatic disorder @@ -132384,7 +132356,7 @@ xref: UMLS:C1852372 {source="NCBI:mim2gene_medline", source="GARD:0008295", sour xref: UMLS:C3541471 {source="OMIM:124000", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000066 {source="DC-OMIM:124000", source="indirect"} ! mitochondrial complex deficiency is_a: MONDO:0004069 {source="DOID:0080111/inferred", source="MESH:C565128", source="MONDO:Redundant", source="indirect"} ! inborn mitochondrial metabolism disorder -is_a: MONDO:0015448 {source="DOID:0080111", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080111", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1020 ! BCS1L @@ -132437,19 +132409,19 @@ synonym: "keratosis follicularis" EXACT [OMIM:124200, Orphanet:218] xref: DOID:2734 {source="MONDO:equivalentTo"} xref: GARD:0006243 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:E50.8 {source="DOID:2734"} -xref: ICD10CM:Q82.8 {source="Orphanet:218", source="ORDO:218/inclusion", source="ORDO:218/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:218/ntbt", source="Orphanet:218/inclusion", source="Orphanet:218"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10023369 {source="ORDO:218/e", source="Orphanet:218"} -xref: MESH:D007644 {source="ORDO:218/e", source="Orphanet:218", source="DOID:2734"} +xref: MedDRA:10023369 {source="Orphanet:218", source="Orphanet:218/e"} +xref: MESH:D007644 {source="Orphanet:218", source="DOID:2734", source="Orphanet:218/e"} xref: NCIT:C84665 {source="MONDO:equivalentTo", source="DOID:2734"} -xref: OMIM:124200 {source="ORDO:218/e", source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734"} +xref: OMIM:124200 {source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734", source="Orphanet:218/e"} xref: Orphanet:218 {source="MONDO:equivalentTo", source="OMIM:124200"} xref: SCTID:157017000 {source="DOID:2734"} xref: SCTID:205582000 {source="DOID:2734"} xref: SCTID:240633005 {source="DOID:2734"} xref: SCTID:268355000 {source="DOID:2734"} xref: SCTID:48611009 {source="MONDO:equivalentTo", source="DOID:2734"} -xref: UMLS:C0022595 {source="ORDO:218/e", source="Orphanet:218", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:124200", source="DOID:2734", source="NCIT:C84665"} +xref: UMLS:C0022595 {source="Orphanet:218", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:124200", source="DOID:2734", source="Orphanet:218/e", source="NCIT:C84665"} xref: UMLS:C1852296 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:124200"} xref: UMLS:C1852297 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:124200"} xref: Wikipedia:Darier%27s_disease @@ -132496,8 +132468,8 @@ synonym: "familial ectodermal dysplasia with sensori-neural deafness and other a synonym: "Robinson Miller Bensimon syndrome" RELATED [GARD:0004732] synonym: "Robinson-Miller-Bensimon syndrome" RELATED [GARD:0004732] xref: GARD:0004732 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:79499/attributed", source="ORDO:79499/ntbt", source="Orphanet:79499"} -xref: OMIM:124480 {source="MONDO:equivalentTo", source="ORDO:79499/e", source="Orphanet:79499"} +xref: ICD10CM:Q87.8 {source="Orphanet:79499/attributed", source="Orphanet:79499/ntbt", source="Orphanet:79499"} +xref: OMIM:124480 {source="Orphanet:79499/e", source="MONDO:equivalentTo", source="Orphanet:79499"} xref: Orphanet:3231 {source="MONDO:subClassOf", source="OMIM:124480"} xref: Orphanet:79499 {source="OMIM:124480", source="MONDO:equivalentTo"} xref: UMLS:C2675730 {source="OMIM:124480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79499"} @@ -132516,9 +132488,9 @@ def: "Deafness-ear malformation-facial palsy syndrome is characterized by profou subset: ordo_malformation_syndrome {source="Orphanet:3232"} synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [OMIM:124490] synonym: "Sellars-Beighton syndrome" EXACT [Orphanet:3232] -xref: ICD10CM:Q87.0 {source="Orphanet:3232", source="ORDO:3232/attributed", source="ORDO:3232/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:3232", source="Orphanet:3232/attributed", source="Orphanet:3232/ntbt"} xref: MESH:C565123 {source="MONDO:equivalentTo"} -xref: OMIM:124490 {source="Orphanet:3232", source="MONDO:equivalentTo", source="ORDO:3232/e"} +xref: OMIM:124490 {source="Orphanet:3232", source="MONDO:equivalentTo", source="Orphanet:3232/e"} xref: Orphanet:3232 {source="MONDO:equivalentTo", source="OMIM:124490"} xref: SCTID:716243005 {source="MONDO:equivalentTo"} xref: UMLS:C1852292 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:124490"} @@ -132541,13 +132513,13 @@ synonym: "Vohwinkel syndrome" EXACT [OMIM:124500, Orphanet:494] synonym: "VOWNKL" RELATED ABBREVIATION [OMIM:124500] xref: DOID:0111339 {source="MONDO:equivalentTo"} xref: GARD:0003092 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:494/attributed", source="ORDO:494/ntbt", source="Orphanet:494"} +xref: ICD10CM:Q82.8 {source="Orphanet:494", source="Orphanet:494/attributed", source="Orphanet:494/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536457 {source="MONDO:equivalentTo"} -xref: OMIM:124500 {source="MONDO:equivalentTo", source="ORDO:494/e", source="Orphanet:494"} +xref: OMIM:124500 {source="Orphanet:494/e", source="MONDO:equivalentTo", source="Orphanet:494"} xref: Orphanet:494 {source="MONDO:equivalentTo", source="OMIM:124500"} xref: SCTID:24559001 {source="MONDO:equivalentTo"} -xref: UMLS:C0265964 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:124500", source="ORDO:494/e", source="Orphanet:494"} +xref: UMLS:C0265964 {source="Orphanet:494/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:124500", source="Orphanet:494"} is_a: MONDO:0017670 {source="Orphanet:494"} ! autosomal dominant diffuse mutilating palmoplantar keratoderma is_a: MONDO:0019589 {source="Orphanet:494"} ! syndromic genetic hearing loss relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4284 {source="mim2gene_medgen"} ! GJB2 @@ -132572,7 +132544,6 @@ synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1" synonym: "autosomal dominant nonsyndromic deafness type 1" NARROW [DOID:0110541, MONDORULE:1] synonym: "deafness, autosomal dominant 1" NARROW [MONDO:Lexical, OMIM:124900] synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" NARROW [OMIM:124900, OMIM:genemap2] -synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" NARROW [OMIM:124900] synonym: "deafness, autosomal dominant type 1" NARROW [MONDORULE:1, OMIM:124900] synonym: "deafness, progressive Low tone" NARROW [OMIM:124900] synonym: "DFNA1" NARROW ABBREVIATION [DOID:0110541, MONDO:Lexical, OMIM:124900] @@ -132629,9 +132600,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3241"} synonym: "deafness craniofacial syndrome" RELATED [GARD:0001686] synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230] xref: GARD:0001686 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:3241/attributed", source="ORDO:3241/ntbt", source="Orphanet:3241"} +xref: ICD10CM:Q87.0 {source="Orphanet:3241/attributed", source="Orphanet:3241/ntbt", source="Orphanet:3241"} xref: MESH:C565118 {source="MONDO:equivalentTo"} -xref: OMIM:125230 {source="MONDO:equivalentTo", source="ORDO:3241/e", source="Orphanet:3241"} +xref: OMIM:125230 {source="Orphanet:3241/e", source="MONDO:equivalentTo", source="Orphanet:3241"} xref: Orphanet:3241 {source="OMIM:125230", source="MONDO:equivalentTo"} xref: SCTID:716245003 {source="MONDO:equivalentTo"} xref: UMLS:C1852278 {source="OMIM:125230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3241"} @@ -132656,7 +132627,7 @@ xref: Orphanet:1215 {source="MONDO:subClassOf", source="OMIM:125250"} xref: Orphanet:3212 {source="OMIM:125250", source="MONDO:relatedTo"} xref: UMLS:C1852267 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C3276549 {source="OMIM:125250", source="MONDO:equivalentTo"} -is_a: MONDO:0014720 {source="ORDO:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome +is_a: MONDO:0014720 {source="Orphanet:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8140 {source="mim2gene_medgen"} ! OPA1 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:125250"} ! Autosomal dominant inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -132728,9 +132699,9 @@ synonym: "primary failure of eruption, nonsyndromic" RELATED [OMIM:125350] synonym: "primary retention of teeth" EXACT [OMIM:125350, Orphanet:412206] synonym: "unerupted second primary molar" RELATED [OMIM:125350] xref: DOID:0111341 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.8 {source="Orphanet:412206", source="ORDO:412206/attributed", source="ORDO:412206/ntbt"} +xref: ICD10CM:K00.8 {source="Orphanet:412206/attributed", source="Orphanet:412206/ntbt", source="Orphanet:412206"} xref: MESH:C565114 {source="MONDO:equivalentTo"} -xref: OMIM:125350 {source="Orphanet:412206", source="ORDO:412206/e", source="MONDO:equivalentTo"} +xref: OMIM:125350 {source="Orphanet:412206", source="MONDO:equivalentTo", source="Orphanet:412206/e"} xref: Orphanet:412206 {source="OMIM:125350", source="MONDO:equivalentTo"} xref: UMLS:C1852222 {source="OMIM:125350", source="Orphanet:412206", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder @@ -132756,12 +132727,12 @@ synonym: "Naito-Oyanagi disease" EXACT [DOID:0060162, OMIM:125370, Orphanet:101] synonym: "NOD" RELATED ABBREVIATION [GARD:0005643] xref: DOID:0060162 {source="MONDO:equivalentTo"} xref: GARD:0005643 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:101/attributed", source="ORDO:101/ntbt", source="Orphanet:101"} +xref: ICD10CM:G11.8 {source="Orphanet:101/attributed", source="Orphanet:101/ntbt", source="Orphanet:101"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D020191 {source="MONDO:relatedTo", source="DOID:0060162"} xref: NCIT:C122653 {source="MONDO:equivalentTo", source="DOID:0060162"} xref: NCIT:C7636 {source="MONDO:relatedTo", source="DOID:0060162"} -xref: OMIM:125370 {source="MONDO:equivalentTo", source="ORDO:101/e", source="DOID:0060162", source="Orphanet:101"} +xref: OMIM:125370 {source="Orphanet:101/e", source="MONDO:equivalentTo", source="DOID:0060162", source="Orphanet:101"} xref: Orphanet:101 {source="MONDO:equivalentTo", source="OMIM:125370"} xref: SCTID:192844008 {source="DOID:0060162"} xref: SCTID:267581004 {source="MONDO:relatedTo", source="DOID:0060162"} @@ -132773,7 +132744,7 @@ xref: UMLS:C0751777 {source="MONDO:notFoundInDiseaseSubset", source="DOID:006016 xref: UMLS:C0751778 {source="MONDO:relatedTo", source="DOID:0060162"} xref: UMLS:C0751779 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060162"} xref: UMLS:C0751780 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060162"} -xref: UMLS:C0751781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122653", source="ORDO:101/e", source="OMIM:125370", source="DOID:0060162", source="Orphanet:101"} +xref: UMLS:C0751781 {source="NCBI:mim2gene_medline", source="Orphanet:101/e", source="MONDO:equivalentTo", source="NCIT:C122653", source="OMIM:125370", source="DOID:0060162", source="Orphanet:101"} xref: UMLS:C0751782 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060162"} is_a: MONDO:0005559 {source="DOID:0060162/inferred", source="MONDO:Redundant", source="NCIT:C122653", source="Orphanet:101/inferred"} ! neurodegenerative disease is_a: MONDO:0015548 {source="Orphanet:101"} ! Huntington disease-like syndrome @@ -132800,15 +132771,15 @@ synonym: "DTDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125400, Orphanet:99789] synonym: "radicular dentin dysplasia" EXACT [OMIM:125400, Orphanet:99789] synonym: "rootless teeth" RELATED [OMIM:125400] xref: GARD:0001807 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="Orphanet:99789", source="ORDO:99789/attributed", source="ORDO:99789/ntbt"} +xref: ICD10CM:K00.5 {source="Orphanet:99789/attributed", source="Orphanet:99789/ntbt", source="Orphanet:99789"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C531665 {source="MONDO:equivalentTo"} -xref: MESH:C538215 {source="ORDO:99789/e", source="Orphanet:99789", source="MONDO:equivalentTo"} +xref: MESH:C538215 {source="Orphanet:99789", source="MONDO:equivalentTo", source="Orphanet:99789/e"} xref: OMIM:125400 {source="MONDO:equivalentTo"} xref: Orphanet:314721 {source="OMIM:125400", source="MONDO:superClassOf"} xref: Orphanet:99789 {source="MONDO:equivalentTo", source="OMIM:125400"} xref: SCTID:109493006 {source="MONDO:equivalentTo"} -xref: UMLS:C0399379 {source="ORDO:99789/e", source="NCBI:mim2gene_medline", source="Orphanet:99789", source="MONDO:equivalentTo", source="OMIM:125400"} +xref: UMLS:C0399379 {source="NCBI:mim2gene_medline", source="Orphanet:99789", source="MONDO:equivalentTo", source="OMIM:125400", source="Orphanet:99789/e"} xref: UMLS:C3276551 {source="OMIM:125400", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003847 {source="Orphanet:99789/inferred", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0015613 {source="DC-OMIM:125400", source="MESH:C538215", source="Orphanet:99789", source="linkedlifedata"} ! dentin dysplasia @@ -132835,7 +132806,7 @@ synonym: "Dtdp2" RELATED [OMIM:125420] synonym: "pulp stones" RELATED [OMIM:125420] synonym: "pulpal dysplasia" RELATED [OMIM:125420] xref: GARD:0001806 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K00.5 {source="ORDO:99791/attributed", source="ORDO:99791/ntbt", source="Orphanet:99791"} +xref: ICD10CM:K00.5 {source="Orphanet:99791", source="Orphanet:99791/attributed", source="Orphanet:99791/ntbt"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:125420 {source="MONDO:equivalentTo"} xref: Orphanet:99791 {source="OMIM:125420", source="MONDO:equivalentTo"} @@ -132856,11 +132827,11 @@ synonym: "dentin dysplasia sclerotic bones" RELATED [GARD:0001808] synonym: "dentin dysplasia with sclerotic bones" RELATED [OMIM:125440] synonym: "sclerotic bones with dentin dysplasia" RELATED [GARD:0001808] xref: GARD:0001808 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K00.5 {source="ORDO:99792/attributed", source="ORDO:99792/ntbt", source="Orphanet:99792"} -xref: MESH:C538213 {source="MONDO:equivalentTo", source="ORDO:99792/e", source="Orphanet:99792"} -xref: OMIM:125440 {source="MONDO:equivalentTo", source="ORDO:99792/e", source="Orphanet:99792"} +xref: ICD10CM:K00.5 {source="Orphanet:99792/attributed", source="Orphanet:99792/ntbt", source="Orphanet:99792"} +xref: MESH:C538213 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"} +xref: OMIM:125440 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"} xref: Orphanet:99792 {source="OMIM:125440", source="MONDO:equivalentTo"} -xref: UMLS:C1852201 {source="OMIM:125440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:99792/e", source="Orphanet:99792"} +xref: UMLS:C1852201 {source="OMIM:125440", source="Orphanet:99792/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99792"} is_a: MONDO:0000001 {source="MONDO:0020014-obsoleted"} ! disease or disorder is_a: MONDO:0003847 {source="Orphanet:99792/inferred"} ! Mendelian disease property_value: confidence "3.7222222222222223" xsd:double @@ -132908,9 +132879,9 @@ synonym: "DI-2" EXACT [Orphanet:166260] synonym: "opalescent dentin" RELATED [OMIM:125490] synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490] xref: GARD:0012796 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K00.5 {source="Orphanet:166260", source="ORDO:166260/attributed", source="ORDO:166260/ntbt"} -xref: OMIM:125490 {source="MONDO:equivalentTo", source="Orphanet:166260", source="ORDO:166260/e"} -xref: OMIM:605594 {source="MONDO:superClassOf", source="Orphanet:166260", source="ORDO:166260/btnt"} +xref: ICD10CM:K00.5 {source="Orphanet:166260/attributed", source="Orphanet:166260/ntbt", source="Orphanet:166260"} +xref: OMIM:125490 {source="Orphanet:166260/e", source="MONDO:equivalentTo", source="Orphanet:166260"} +xref: OMIM:605594 {source="MONDO:superClassOf", source="Orphanet:166260/btnt", source="Orphanet:166260"} xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"} xref: UMLS:C0205730 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2973527 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166260", source="OMIM:125490"} @@ -132933,10 +132904,10 @@ synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265] synonym: "dentinogenesis imperfecta, Shields type III" RELATED [OMIM:125500] synonym: "DGI-III" RELATED [OMIM:125500] xref: GARD:0010144 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="Orphanet:166265", source="ORDO:166265/attributed", source="ORDO:166265/ntbt"} +xref: ICD10CM:K00.5 {source="Orphanet:166265/attributed", source="Orphanet:166265/ntbt", source="Orphanet:166265"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538216 {source="MONDO:equivalentTo"} -xref: OMIM:125500 {source="ORDO:166265/e", source="Orphanet:166265", source="MONDO:equivalentTo"} +xref: OMIM:125500 {source="Orphanet:166265", source="MONDO:equivalentTo", source="Orphanet:166265/e"} xref: Orphanet:166265 {source="MONDO:equivalentTo", source="OMIM:125500"} xref: SCTID:234970006 {source="MONDO:equivalentTo"} xref: UMLS:C0399378 {source="Orphanet:166265", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125500"} @@ -132957,13 +132928,13 @@ synonym: "Cayler cardiofacial syndrome" RELATED [OMIM:125520] synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [OMIM:125520] synonym: "facial paresis, partial, unilateral" RELATED [OMIM:125520] synonym: "isolated asymmetric crying facies" EXACT [Orphanet:1166] -xref: ICD10CM:Q87.0 {source="Orphanet:1166", source="ORDO:1166/attributed", source="ORDO:1166/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:1166/attributed", source="Orphanet:1166/ntbt", source="Orphanet:1166"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535349 {source="ORDO:1166/e", source="Orphanet:1166"} -xref: OMIM:125520 {source="ORDO:1166/e", source="Orphanet:1166", source="MONDO:equivalentTo"} +xref: MESH:C535349 {source="Orphanet:1166", source="Orphanet:1166/e"} +xref: OMIM:125520 {source="Orphanet:1166", source="MONDO:equivalentTo", source="Orphanet:1166/e"} xref: Orphanet:1166 {source="MONDO:equivalentTo", source="OMIM:125520"} xref: SCTID:51409009 {source="MONDO:equivalentTo"} -xref: UMLS:C0431406 {source="ORDO:1166/e", source="Orphanet:1166", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125520"} +xref: UMLS:C0431406 {source="Orphanet:1166", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125520", source="Orphanet:1166/e"} is_a: MONDO:0018923 ! 22q11.2 deletion syndrome is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0043007 {source="Orphanet:1166", source="indirect"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -132989,12 +132960,12 @@ synonym: "dermatopathia pigmentosa reticularis" EXACT [MONDO:Lexical, OMIM:12559 synonym: "DPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125595] xref: DOID:0111342 {source="MONDO:equivalentTo"} xref: GARD:0008550 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="Orphanet:86920", source="ORDO:86920/attributed", source="ORDO:86920/ntbt"} -xref: MESH:C535374 {source="ORDO:86920/e", source="Orphanet:86920", source="MONDO:equivalentTo"} -xref: OMIM:125595 {source="ORDO:86920/e", source="Orphanet:86920", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.4 {source="Orphanet:86920/attributed", source="Orphanet:86920/ntbt", source="Orphanet:86920"} +xref: MESH:C535374 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"} +xref: OMIM:125595 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"} xref: Orphanet:86920 {source="OMIM:125595", source="MONDO:equivalentTo"} xref: SCTID:239088003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406778 {source="ORDO:86920/e", source="Orphanet:86920", source="NCBI:mim2gene_medline", source="OMIM:125595", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0406778 {source="Orphanet:86920", source="NCBI:mim2gene_medline", source="OMIM:125595", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86920/e"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:86920"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:86920", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin @@ -133105,9 +133076,9 @@ synonym: "dermoodonto dysplasia" RELATED [] synonym: "DERMOODONTODYSPLASIA" RELATED ABBREVIATION [OMIM:125640] synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [OMIM:125640] xref: GARD:0001816 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="Orphanet:1660", source="ORDO:1660/attributed", source="ORDO:1660/ntbt"} +xref: ICD10CM:Q82.4 {source="Orphanet:1660", source="Orphanet:1660/attributed", source="Orphanet:1660/ntbt"} xref: MESH:C565103 {source="MONDO:equivalentTo"} -xref: OMIM:125640 {source="Orphanet:1660", source="ORDO:1660/e", source="MONDO:equivalentTo"} +xref: OMIM:125640 {source="Orphanet:1660", source="MONDO:equivalentTo", source="Orphanet:1660/e"} xref: Orphanet:1660 {source="OMIM:125640", source="MONDO:equivalentTo"} xref: SCTID:721091003 {source="MONDO:equivalentTo"} xref: UMLS:C1852144 {source="Orphanet:1660", source="OMIM:125640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -133138,10 +133109,10 @@ synonym: "pituitary gland diabetes insipidus" EXACT [MONDO:patterns/location] synonym: "vasopressin defective diabetes insipidus" EXACT [DOID:12388] synonym: "vasopressin deficiency" EXACT [DOID:12388] xref: DOID:12388 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.2 {source="MONDO:subClassOf", source="ORDO:30925/e", source="Orphanet:30925", source="ORDO:30925/specific"} +xref: ICD10CM:E23.2 {source="MONDO:subClassOf", source="Orphanet:30925/e", source="Orphanet:30925/specific", source="Orphanet:30925"} xref: MESH:D020790 {source="DOID:12388"} xref: NCIT:C84933 {source="MONDO:equivalentTo", source="DOID:12388"} -xref: OMIM:125700 {source="MONDO:equivalentTo", source="ORDO:30925/e", source="Orphanet:30925", source="DOID:12388"} +xref: OMIM:125700 {source="Orphanet:30925/e", source="MONDO:equivalentTo", source="Orphanet:30925", source="DOID:12388"} xref: Orphanet:178029 {source="MONDO:subClassOf", source="OMIM:125700"} xref: Orphanet:30925 {source="MONDO:equivalentTo", source="OMIM:125700"} xref: SCTID:154699008 {source="DOID:12388"} @@ -133170,7 +133141,7 @@ xref: OMIM:125800 {source="MONDO:equivalentTo"} xref: Orphanet:223 {source="MONDO:subClassOf", source="OMIM:125800"} xref: UMLS:C1563706 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:125800"} is_a: MONDO:0004782 {source="DC-OMIM:125800", source="MONDO:Redundant", source="indirect"} ! diabetes insipidus -is_a: MONDO:0016383 {source="ORDO:223/btnt"} ! nephrogenic diabetes insipidus +is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/634 {source="mim2gene_medgen"} ! AQP2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "6.142857142857142" xsd:double @@ -133298,7 +133269,7 @@ synonym: "ulnar drift, hereditary" RELATED [OMIM:126050] xref: OMIM:126050 {source="MONDO:equivalentTo"} xref: SCTID:715314008 {source="MONDO:directSiblingOf"} xref: UMLS:C1852085 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:126050"} -is_a: MONDO:0015240 {source="ORDO:1146/btnt"} ! digitotalar dysmorphism +is_a: MONDO:0015240 {source="Orphanet:1146/btnt"} ! digitotalar dysmorphism property_value: confidence "2.220446049250313E-16" xsd:double [Term] @@ -133331,9 +133302,9 @@ name: short stature-valvular heart disease-characteristic facies syndrome def: "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." [Orphanet:2868] subset: ordo_malformation_syndrome {source="Orphanet:2868"} synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [OMIM:126190] -xref: ICD10CM:Q87.1 {source="ORDO:2868/attributed", source="ORDO:2868/ntbt", source="Orphanet:2868"} +xref: ICD10CM:Q87.1 {source="Orphanet:2868/attributed", source="Orphanet:2868/ntbt", source="Orphanet:2868"} xref: MESH:C565094 {source="MONDO:equivalentTo"} -xref: OMIM:126190 {source="MONDO:equivalentTo", source="ORDO:2868/e", source="Orphanet:2868"} +xref: OMIM:126190 {source="Orphanet:2868/e", source="MONDO:equivalentTo", source="Orphanet:2868"} xref: Orphanet:2868 {source="MONDO:equivalentTo", source="OMIM:126190"} xref: UMLS:C1852073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126190"} is_a: MONDO:0015161 {source="Orphanet:2868", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -133373,9 +133344,9 @@ def: "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly charac subset: ordo_morphological_anomaly {source="Orphanet:99177"} synonym: "distichiasis" RELATED [OMIM:126300] synonym: "eyelashes, two rows of" RELATED [OMIM:126300] -xref: ICD10CM:Q10.3 {source="ORDO:99177/attributed", source="ORDO:99177/ntbt", source="Orphanet:99177"} +xref: ICD10CM:Q10.3 {source="Orphanet:99177/attributed", source="Orphanet:99177/ntbt", source="Orphanet:99177"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:126300 {source="MONDO:obsoleteEquivalent", source="ORDO:99177/e", source="Orphanet:99177"} +xref: OMIM:126300 {source="Orphanet:99177/e", source="MONDO:obsoleteEquivalent", source="Orphanet:99177"} xref: Orphanet:99177 {source="MONDO:obsoleteEquivalent", source="OMIM:126300"} xref: SCTID:95339000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0423848 {source="OMIM:126300", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99177"} @@ -133452,9 +133423,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:85192"} synonym: "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" EXACT [OMIM:126550, OMIM:genemap2] synonym: "doughnut lesions of skull, familial" RELATED [OMIM:126550] synonym: "familial doughnut lesions of skull" EXACT [Orphanet:85192] -xref: ICD10CM:M85.8 {source="ORDO:85192/attributed", source="ORDO:85192/ntbt", source="Orphanet:85192"} +xref: ICD10CM:M85.8 {source="Orphanet:85192", source="Orphanet:85192/attributed", source="Orphanet:85192/ntbt"} xref: MESH:C565089 {source="MONDO:equivalentTo"} -xref: OMIM:126550 {source="MONDO:equivalentTo", source="ORDO:85192/e", source="Orphanet:85192"} +xref: OMIM:126550 {source="MONDO:equivalentTo", source="Orphanet:85192", source="Orphanet:85192/e"} xref: Orphanet:85192 {source="OMIM:126550", source="MONDO:equivalentTo"} xref: SCTID:720598005 {source="MONDO:equivalentTo"} xref: UMLS:C1852022 {source="OMIM:126550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85192"} @@ -133481,9 +133452,9 @@ synonym: "familial drusen" RELATED [Orphanet:75376] synonym: "Malattia leventinese" EXACT [OMIM:126600, Orphanet:75376] xref: DOID:0060745 {source="MONDO:equivalentTo"} xref: GARD:0001912 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="Orphanet:75376", source="MONDO:relatedTo", source="DOID:0060745", source="ORDO:75376/attributed", source="ORDO:75376/ntbt"} -xref: OMIM:126600 {source="Orphanet:75376", source="MONDO:equivalentTo", source="DOID:0060745", source="ORDO:75376/e"} -xref: OMIM:126700 {source="Orphanet:75376", source="MONDO:superClassOf", source="ORDO:75376/btnt"} +xref: ICD10CM:H35.5 {source="Orphanet:75376", source="MONDO:relatedTo", source="Orphanet:75376/attributed", source="Orphanet:75376/ntbt", source="DOID:0060745"} +xref: OMIM:126600 {source="Orphanet:75376", source="MONDO:equivalentTo", source="Orphanet:75376/e", source="DOID:0060745"} +xref: OMIM:126700 {source="Orphanet:75376", source="Orphanet:75376/btnt", source="MONDO:superClassOf"} xref: Orphanet:75376 {source="MONDO:equivalentTo", source="DOID:0060745", source="OMIM:126600"} xref: SCTID:193411004 {source="MONDO:equivalentTo"} xref: UMLS:C1832174 {source="Orphanet:75376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:126600"} @@ -133539,20 +133510,20 @@ synonym: "retraction syndrome" RELATED [OMIM:126800] synonym: "Stilling-Turk-Duane syndrome" EXACT [DOID:12557, GARD:0006288, Orphanet:233] xref: DOID:12557 {source="MONDO:equivalentTo"} xref: GARD:0006288 {source="MONDO:equivalentTo"} -xref: ICD10CM:H50.8 {source="ORDO:233/ntbt", source="ORDO:233/inclusion", source="Orphanet:233"} +xref: ICD10CM:H50.8 {source="Orphanet:233/ntbt", source="Orphanet:233/inclusion", source="Orphanet:233"} xref: ICD10CM:H50.81 {source="DOID:12557"} xref: ICD9:378.71 {source="DOID:12557", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10013799 {source="ORDO:233/e", source="Orphanet:233"} -xref: MESH:D004370 {source="DOID:12557", source="MONDO:equivalentTo", source="ORDO:233/e", source="Orphanet:233"} +xref: MedDRA:10013799 {source="Orphanet:233/e", source="Orphanet:233"} +xref: MESH:D004370 {source="DOID:12557", source="Orphanet:233/e", source="MONDO:equivalentTo", source="Orphanet:233"} xref: NCIT:C84678 {source="DOID:12557", source="MONDO:equivalentTo"} -xref: OMIM:126800 {source="DOID:12557", source="MONDO:superClassOf", source="ORDO:233/e", source="Orphanet:233"} -xref: OMIM:604356 {source="DOID:12557", source="ORDO:233/btnt", source="MONDO:superClassOf", source="Orphanet:233"} -xref: OMIM:616219 {source="MONDO:superClassOf", source="ORDO:233/nd", source="Orphanet:233"} -xref: OMIM:617041 {source="ORDO:233/btnt", source="MONDO:superClassOf", source="Orphanet:233"} +xref: OMIM:126800 {source="DOID:12557", source="Orphanet:233/e", source="MONDO:superClassOf", source="Orphanet:233"} +xref: OMIM:604356 {source="DOID:12557", source="Orphanet:233/btnt", source="MONDO:superClassOf", source="Orphanet:233"} +xref: OMIM:616219 {source="Orphanet:233/nd", source="MONDO:superClassOf", source="Orphanet:233"} +xref: OMIM:617041 {source="Orphanet:233/btnt", source="MONDO:superClassOf", source="Orphanet:233"} xref: OMIMPS:126800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:233 {source="MONDO:equivalentTo", source="GARD:0006288"} xref: SCTID:60318001 {source="DOID:12557", source="MONDO:equivalentTo"} -xref: UMLS:C0013261 {source="DOID:12557", source="NCIT:C84678", source="MONDO:equivalentTo", source="ORDO:233/e", source="Orphanet:233"} +xref: UMLS:C0013261 {source="DOID:12557", source="NCIT:C84678", source="Orphanet:233/e", source="MONDO:equivalentTo", source="Orphanet:233"} xref: UMLS:C0994516 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C84678"} ! syndromic disease is_a: MONDO:0015083 {source="Orphanet:233"} ! nuclear oculomotor paralysis @@ -133596,8 +133567,8 @@ synonym: "Dupuytren contracture 1" RELATED [OMIM:126900] synonym: "plantar fibromas" RELATED [OMIM:126900] synonym: "plantar fibromatosis, familial" RELATED [OMIM:126900] xref: GARD:0012165 {source="MONDO:equivalentTo"} -xref: ICD10CM:M72.0 {source="ORDO:79142/attributed", source="ORDO:79142/ntbt", source="Orphanet:79142"} -xref: OMIM:126900 {source="MONDO:equivalentTo", source="ORDO:79142/e", source="Orphanet:79142"} +xref: ICD10CM:M72.0 {source="Orphanet:79142", source="Orphanet:79142/attributed", source="Orphanet:79142/ntbt"} +xref: OMIM:126900 {source="MONDO:equivalentTo", source="Orphanet:79142", source="Orphanet:79142/e"} xref: Orphanet:79142 {source="MONDO:equivalentTo", source="OMIM:126900"} xref: SCTID:274142002 {source="MONDO:equivalentTo"} xref: UMLS:C0013312 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:126900"} @@ -133630,20 +133601,20 @@ synonym: "three-M slender-boned nanism" RELATED [MESH:C535314] synonym: "Yakut short stature syndrome" EXACT [DOID:0060241, Orphanet:2616] xref: DOID:0060241 {source="MONDO:equivalentTo"} xref: GARD:0005667 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2616/attributed", source="ORDO:2616/ntbt", source="Orphanet:2616"} +xref: ICD10CM:Q87.1 {source="Orphanet:2616", source="Orphanet:2616/attributed", source="Orphanet:2616/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535314 {source="DOID:0060241", source="MONDO:equivalentTo"} xref: MESH:C535725 {source="DOID:0060241"} xref: OMIM:126950 {source="MONDO:relatedTo"} -xref: OMIM:273750 {source="DOID:0060241", source="MONDO:superClassOf", source="Orphanet:2616", source="ORDO:2616/e", source="MEDIC:C535314"} -xref: OMIM:612921 {source="ORDO:2616/btnt", source="DOID:0060241", source="MONDO:superClassOf", source="Orphanet:2616"} -xref: OMIM:614205 {source="ORDO:2616/btnt", source="DOID:0060241", source="MONDO:superClassOf", source="Orphanet:2616"} +xref: OMIM:273750 {source="Orphanet:2616/e", source="DOID:0060241", source="MONDO:superClassOf", source="Orphanet:2616", source="MEDIC:C535314"} +xref: OMIM:612921 {source="DOID:0060241", source="MONDO:superClassOf", source="Orphanet:2616", source="Orphanet:2616/btnt"} +xref: OMIM:614205 {source="DOID:0060241", source="MONDO:superClassOf", source="Orphanet:2616", source="Orphanet:2616/btnt"} xref: OMIMPS:273750 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2616 {source="DOID:0060241", source="MONDO:equivalentTo"} xref: Orphanet:2661 {source="OMIM:126950"} xref: SCTID:702342007 {source="DOID:0060241", source="MONDO:equivalentTo"} -xref: UMLS:C1848862 {source="DOID:0060241", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2616", source="ORDO:2616/e"} -xref: UMLS:C1851996 {source="DOID:0060241", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:126950", source="Orphanet:2616", source="ORDO:2616/e"} +xref: UMLS:C1848862 {source="Orphanet:2616/e", source="DOID:0060241", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2616"} +xref: UMLS:C1851996 {source="Orphanet:2616/e", source="DOID:0060241", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:126950", source="Orphanet:2616"} xref: UMLS:C2678312 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2616"} is_a: MONDO:0006025 {source="DOID:0060241", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:2616", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -133667,9 +133638,9 @@ synonym: "Kenny-Caffey syndrome type 2" EXACT [NCIT:C130993] synonym: "Kenny-Caffey syndrome, autosomal dominant" EXACT [GARD:0000083, MONDO:patterns/autosomal_dominant] synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical, OMIM:127000] xref: GARD:0000083 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:93325/attributed", source="ORDO:93325/ntbt", source="Orphanet:93325"} +xref: ICD10CM:Q87.1 {source="Orphanet:93325", source="Orphanet:93325/attributed", source="Orphanet:93325/ntbt"} xref: NCIT:C130993 {source="MONDO:equivalentTo"} -xref: OMIM:127000 {source="ORDO:93325/e", source="MONDO:equivalentTo", source="Orphanet:93325", source="GARD:0000083"} +xref: OMIM:127000 {source="MONDO:equivalentTo", source="Orphanet:93325", source="GARD:0000083", source="Orphanet:93325/e"} xref: Orphanet:2333 {source="MONDO:subClassOf", source="OMIM:127000"} xref: Orphanet:93325 {source="OMIM:127000", source="MONDO:equivalentTo", source="GARD:0000083"} xref: UMLS:C0265291 {source="MONDO:subClassOf", source="OMIM:127000", source="GARD:0000083"} @@ -133729,16 +133700,16 @@ synonym: "Léri-Weill syndrome" EXACT [Orphanet:240] synonym: "Madelung deformity" RELATED [OMIM:127300] xref: DOID:0060847 {source="MONDO:equivalentTo"} xref: GARD:0003224 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:240/attributed", source="ORDO:240/ntbt", source="Orphanet:240", source="DOID:0060847"} +xref: ICD10CM:Q77.8 {source="Orphanet:240/attributed", source="Orphanet:240/ntbt", source="Orphanet:240", source="DOID:0060847"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537119 {source="ORDO:240/e", source="Orphanet:240", source="DOID:0060847"} +xref: MESH:C537119 {source="Orphanet:240/e", source="Orphanet:240", source="DOID:0060847"} xref: NCIT:C126560 {source="MONDO:equivalentTo"} -xref: OMIM:127300 {source="GARD:0003224", source="MONDO:equivalentTo", source="ORDO:240/e", source="Orphanet:240", source="DOID:0060847"} +xref: OMIM:127300 {source="Orphanet:240/e", source="GARD:0003224", source="MONDO:equivalentTo", source="Orphanet:240", source="DOID:0060847"} xref: Orphanet:240 {source="GARD:0003224", source="OMIM:127300", source="MONDO:equivalentTo", source="DOID:0060847"} xref: Orphanet:35688 {source="OMIM:127300", source="MONDO:superClassOf"} xref: SCTID:17818006 {source="MONDO:equivalentTo"} xref: UMLS:C0152441 {source="OMIM:127300", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0265309 {source="NCIT:C126560", source="NCBI:mim2gene_medline", source="OMIM:127300", source="MONDO:equivalentTo", source="ORDO:240/e", source="Orphanet:240", source="DOID:0060847"} +xref: UMLS:C0265309 {source="Orphanet:240/e", source="NCIT:C126560", source="NCBI:mim2gene_medline", source="OMIM:127300", source="MONDO:equivalentTo", source="Orphanet:240", source="DOID:0060847"} is_a: MONDO:0005516 {source="DOID:0060847"} ! osteochondrodysplasia is_a: MONDO:0019697 {source="Orphanet:240"} ! mesomelic and rhizo-mesomelic dysplasia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -133754,9 +133725,9 @@ synonym: "dyschondrosteosis and nephritis" RELATED [OMIM:127350] synonym: "dyschondrosteosis nephritis" RELATED [GARD:0001994] synonym: "mesomelic shortening and hereditary nephritis" RELATED [GARD:0001994] xref: GARD:0001994 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1765/attributed", source="ORDO:1765/ntbt", source="Orphanet:1765"} +xref: ICD10CM:Q87.8 {source="Orphanet:1765", source="Orphanet:1765/attributed", source="Orphanet:1765/ntbt"} xref: MESH:C565080 {source="MONDO:equivalentTo"} -xref: OMIM:127350 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="ORDO:1765/e"} +xref: OMIM:127350 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="Orphanet:1765/e"} xref: Orphanet:1765 {source="GARD:0001994", source="MONDO:equivalentTo", source="OMIM:127350"} xref: UMLS:C1851986 {source="GARD:0001994", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1765", source="OMIM:127350"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease @@ -133782,13 +133753,13 @@ synonym: "symmetric dyschromatosis of the extremities" RELATED [OMIM:127400] xref: DOID:0060257 {source="MONDO:equivalentTo"} xref: EFO:0008878 {source="MONDO:equivalentTo"} xref: GARD:0000334 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L81.8 {source="ORDO:41/attributed", source="ORDO:41/ntbt", source="Orphanet:41"} -xref: MESH:C535729 {source="DOID:0060257", source="MONDO:equivalentTo", source="Orphanet:41", source="ORDO:41/e"} +xref: ICD10CM:L81.8 {source="Orphanet:41/attributed", source="Orphanet:41/ntbt", source="Orphanet:41"} +xref: MESH:C535729 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"} xref: NCIT:C118435 {source="DOID:0060257", source="MONDO:equivalentTo"} -xref: OMIM:127400 {source="DOID:0060257", source="MONDO:equivalentTo", source="Orphanet:41", source="ORDO:41/e"} +xref: OMIM:127400 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"} xref: Orphanet:41 {source="DOID:0060257", source="OMIM:127400", source="MONDO:equivalentTo"} xref: SCTID:239085000 {source="DOID:0060257", source="MONDO:equivalentTo"} -xref: UMLS:C0406775 {source="DOID:0060257", source="OMIM:127400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118435", source="Orphanet:41", source="ORDO:41/e"} +xref: UMLS:C0406775 {source="DOID:0060257", source="OMIM:127400", source="Orphanet:41/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118435", source="Orphanet:41"} is_a: MONDO:0000118 {source="DC-OMIM:127400", source="OMIM:127400"} ! reticulate pigment disorder is_a: MONDO:0019289 {source="Orphanet:41", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/225 {source="mim2gene_medgen"} ! ADAR @@ -133836,10 +133807,10 @@ synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexica synonym: "HBID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127600, Orphanet:352657] synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphanet:352657] synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940] -xref: ICD10CM:Q82.8 {source="ORDO:352657/attributed", source="ORDO:352657/ntbt", source="Orphanet:352657"} +xref: ICD10CM:Q82.8 {source="Orphanet:352657/attributed", source="Orphanet:352657/ntbt", source="Orphanet:352657"} xref: MESH:C562551 {source="MONDO:equivalentTo"} xref: NCIT:C3940 {source="MONDO:equivalentTo"} -xref: OMIM:127600 {source="MONDO:equivalentTo", source="ORDO:352657/e", source="Orphanet:352657"} +xref: OMIM:127600 {source="Orphanet:352657/e", source="MONDO:equivalentTo", source="Orphanet:352657"} xref: Orphanet:352657 {source="MONDO:equivalentTo", source="OMIM:127600"} xref: SCTID:400014002 {source="MONDO:equivalentTo"} xref: UMLS:C0265966 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:127600", source="NCIT:C3940", source="Orphanet:352657"} @@ -133914,13 +133885,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1822"} synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800] synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822] xref: GARD:0002019 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="ORDO:1822/attributed", source="ORDO:1822/ntbt", source="Orphanet:1822"} +xref: ICD10CM:Q74.8 {source="Orphanet:1822", source="Orphanet:1822/attributed", source="Orphanet:1822/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="ORDO:1822/e"} -xref: OMIM:127800 {source="MONDO:equivalentTo", source="Orphanet:1822", source="ORDO:1822/e"} +xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"} +xref: OMIM:127800 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"} xref: Orphanet:1822 {source="MONDO:equivalentTo", source="OMIM:127800"} xref: SCTID:205480005 {source="MONDO:equivalentTo"} -xref: UMLS:C0432282 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:127800", source="Orphanet:1822", source="ORDO:1822/e"} +xref: UMLS:C0432282 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:127800", source="Orphanet:1822", source="Orphanet:1822/e"} is_a: MONDO:0018230 {source="Orphanet:1822"} ! primary bone dysplasia relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:1822"} ! obsolete primary bone dysplasia with disorganized development of skeletal components property_value: confidence "8.375" xsd:double @@ -133938,12 +133909,12 @@ synonym: "Maroteaux Le Merrer Bensahel syndrome" RELATED [GARD:0001128] synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767] synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820] xref: GARD:0001128 {source="MONDO:equivalentTo"} -xref: ICD10CM:D16.9 {source="ORDO:2767/attributed", source="ORDO:2767/ntbt", source="Orphanet:2767"} +xref: ICD10CM:D16.9 {source="Orphanet:2767", source="Orphanet:2767/attributed", source="Orphanet:2767/ntbt"} xref: MESH:C565076 {source="MONDO:equivalentTo"} -xref: OMIM:127820 {source="MONDO:equivalentTo", source="ORDO:2767/e", source="Orphanet:2767"} +xref: OMIM:127820 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"} xref: Orphanet:2767 {source="MONDO:equivalentTo", source="OMIM:127820"} xref: SCTID:389272007 {source="MONDO:equivalentTo"} -xref: UMLS:C1300233 {source="MONDO:equivalentTo", source="ORDO:2767/e", source="Orphanet:2767"} +xref: UMLS:C1300233 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"} xref: UMLS:C1851956 {source="NCBI:mim2gene_medline", source="OMIM:127820", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018230 {source="Orphanet:2767"} ! primary bone dysplasia relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2767"} ! obsolete primary bone dysplasia with disorganized development of skeletal components @@ -134001,11 +133972,11 @@ synonym: "torsion dystonia 1, autosomal dominant" RELATED [MESH:C538005] synonym: "torsion dystonia type 1" EXACT [DOID:0060730, MONDORULE:1] xref: DOID:0060730 {source="MONDO:equivalentTo"} xref: GARD:0002027 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="DOID:0060730", source="ORDO:256/specific", source="ORDO:256/e", source="Orphanet:256"} +xref: ICD10CM:G24.1 {source="Orphanet:256/specific", source="DOID:0060730", source="Orphanet:256/e", source="Orphanet:256"} xref: MESH:C538005 {source="MONDO:equivalentTo"} xref: NCIT:C116718 {source="MONDO:equivalentTo"} -xref: OMIM:128100 {source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo", source="MEDIC:C538005", source="ORDO:256/btnt", source="Orphanet:256"} -xref: OMIM:602554 {source="MONDO:superClassOf", source="ORDO:256/btnt", source="Orphanet:256"} +xref: OMIM:128100 {source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo", source="Orphanet:256/btnt", source="MEDIC:C538005", source="Orphanet:256"} +xref: OMIM:602554 {source="MONDO:superClassOf", source="Orphanet:256/btnt", source="Orphanet:256"} xref: Orphanet:256 {source="OMIM:128100", source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo"} xref: UMLS:C0013423 {source="MONDO:equivalentTo", source="Orphanet:256"} xref: UMLS:C1851945 {source="OMIM:128100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:256"} @@ -134033,8 +134004,8 @@ synonym: "whispering dysphonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK115 synonym: "whispering dysphonia, hereditary" RELATED [OMIM:128101] xref: DOID:0090041 {source="MONDO:equivalentTo"} xref: GARD:0010138 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="DOID:0090041", source="ORDO:98805/attributed", source="ORDO:98805/ntbt", source="Orphanet:98805"} -xref: OMIM:128101 {source="DOID:0090041", source="MONDO:equivalentTo", source="ORDO:98805/e", source="Orphanet:98805"} +xref: ICD10CM:G24.1 {source="DOID:0090041", source="Orphanet:98805/attributed", source="Orphanet:98805/ntbt", source="Orphanet:98805"} +xref: OMIM:128101 {source="DOID:0090041", source="Orphanet:98805/e", source="MONDO:equivalentTo", source="Orphanet:98805"} xref: Orphanet:98805 {source="DOID:0090041", source="OMIM:128101", source="MONDO:equivalentTo"} xref: SCTID:719276005 {source="MONDO:equivalentTo"} xref: UMLS:C1851943 {source="OMIM:128101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98805"} @@ -134078,8 +134049,8 @@ synonym: "HPD with marked diurnal fluctuation" EXACT [Orphanet:98808] synonym: "Segawa syndrome, autosomal dominant" RELATED [OMIM:128230] xref: DOID:0090043 {source="MONDO:equivalentTo"} xref: GARD:0012144 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="ORDO:98808/attributed", source="ORDO:98808/ntbt", source="DOID:0090043", source="Orphanet:98808"} -xref: OMIM:128230 {source="DOID:0090043", source="MONDO:equivalentTo", source="ORDO:98808/e", source="Orphanet:98808"} +xref: ICD10CM:G24.1 {source="DOID:0090043", source="Orphanet:98808/attributed", source="Orphanet:98808/ntbt", source="Orphanet:98808"} +xref: OMIM:128230 {source="DOID:0090043", source="Orphanet:98808/e", source="MONDO:equivalentTo", source="Orphanet:98808"} xref: Orphanet:98808 {source="DOID:0090043", source="MONDO:equivalentTo", source="OMIM:128230"} xref: SCTID:715768000 {source="MONDO:equivalentTo"} xref: UMLS:C1851920 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:128230"} @@ -134110,9 +134081,9 @@ synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517] synonym: "RDP" RELATED ABBREVIATION [GARD:0009628] xref: DOID:0090056 {source="MONDO:equivalentTo"} xref: GARD:0009628 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="ORDO:71517/attributed", source="ORDO:71517/ntbt", source="DOID:0090056", source="Orphanet:71517"} +xref: ICD10CM:G24.1 {source="DOID:0090056", source="Orphanet:71517/attributed", source="Orphanet:71517/ntbt", source="Orphanet:71517"} xref: MESH:C538001 {source="MONDO:equivalentTo"} -xref: OMIM:128235 {source="DOID:0090056", source="MONDO:equivalentTo", source="ORDO:71517/e", source="Orphanet:71517"} +xref: OMIM:128235 {source="Orphanet:71517/e", source="DOID:0090056", source="MONDO:equivalentTo", source="Orphanet:71517"} xref: Orphanet:71517 {source="DOID:0090056", source="OMIM:128235", source="MONDO:equivalentTo"} xref: SCTID:702323008 {source="MONDO:equivalentTo"} xref: UMLS:C1868681 {source="NCBI:mim2gene_medline", source="OMIM:128235", source="MONDO:equivalentTo", source="Orphanet:71517"} @@ -134195,7 +134166,7 @@ synonym: "ear without helix" EXACT [OMIM:128800] xref: OMIM:128800 {source="MONDO:equivalentTo"} xref: Orphanet:83463 {source="MONDO:subClassOf", source="OMIM:128800"} xref: UMLS:C1851899 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:128800"} -is_a: MONDO:0010920 {source="ORDO:83463/btnt"} ! microtia +is_a: MONDO:0010920 {source="Orphanet:83463/btnt"} ! microtia property_value: confidence "0.0038461538461538325" xsd:double [Term] @@ -134207,8 +134178,8 @@ synonym: "earlobes, thickened, with conductive deafness from incudostapedial abn synonym: "Escher Hirt syndrome" RELATED [GARD:0002195] synonym: "Escher-Hirt syndrome" EXACT [Orphanet:2405] xref: GARD:0002195 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H90.0 {source="ORDO:2405/attributed", source="ORDO:2405/ntbt", source="Orphanet:2405"} -xref: OMIM:128980 {source="MONDO:equivalentTo", source="Orphanet:2405", source="ORDO:2405/e"} +xref: ICD10CM:H90.0 {source="Orphanet:2405", source="Orphanet:2405/attributed", source="Orphanet:2405/ntbt"} +xref: OMIM:128980 {source="MONDO:equivalentTo", source="Orphanet:2405", source="Orphanet:2405/e"} xref: Orphanet:2405 {source="OMIM:128980", source="MONDO:equivalentTo"} xref: SCTID:722476007 {source="MONDO:equivalentTo"} xref: UMLS:C1851896 {source="OMIM:128980", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -134250,9 +134221,9 @@ synonym: "Baird syndrome" EXACT [GARD:0002336, Orphanet:1658] synonym: "Basan syndrome" RELATED [GARD:0002336, OMIM:129200] synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [OMIM:129200] xref: GARD:0002336 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:1658/attributed", source="ORDO:1658/ntbt", source="Orphanet:1658"} +xref: ICD10CM:Q82.8 {source="Orphanet:1658/attributed", source="Orphanet:1658/ntbt", source="Orphanet:1658"} xref: MESH:C537659 {source="MONDO:equivalentTo"} -xref: OMIM:129200 {source="MONDO:equivalentTo", source="ORDO:1658/e", source="Orphanet:1658"} +xref: OMIM:129200 {source="Orphanet:1658/e", source="MONDO:equivalentTo", source="Orphanet:1658"} xref: Orphanet:1235 {source="OMIM:129200"} xref: Orphanet:1658 {source="OMIM:129200", source="GARD:0002336", source="MONDO:equivalentTo"} xref: SCTID:239011004 {source="MONDO:equivalentTo"} @@ -134316,7 +134287,7 @@ xref: Orphanet:1810 {source="MONDO:subClassOf", source="OMIM:129490"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:129490"} xref: UMLS:C1720965 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:129490"} xref: UMLS:C3888065 {source="MONDO:equivalentTo"} -is_a: MONDO:0015884 {source="ORDO:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia +is_a: MONDO:0015884 {source="Orphanet:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:129490", source="indirect"} ! ectodermal dysplasia syndrome property_value: confidence "1.013902333975493" xsd:double @@ -134347,12 +134318,12 @@ synonym: "Patel Bixler syndrome" RELATED [GARD:0004253] xref: DOID:14693 {source="MONDO:equivalentTo"} xref: GARD:0002056 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0004253 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:189/attributed", source="ORDO:189/ntbt", source="Orphanet:189"} +xref: ICD10CM:Q82.8 {source="Orphanet:189/attributed", source="Orphanet:189/ntbt", source="Orphanet:189"} xref: MESH:D004476 {source="MONDO:subClassOf", source="DOID:14693"} -xref: OMIM:129500 {source="MONDO:equivalentTo", source="DOID:14693", source="ORDO:189/e", source="GARD:0004253", source="Orphanet:189"} +xref: OMIM:129500 {source="Orphanet:189/e", source="MONDO:equivalentTo", source="DOID:14693", source="GARD:0004253", source="Orphanet:189"} xref: Orphanet:189 {source="OMIM:129500", source="MONDO:equivalentTo"} xref: SCTID:54209007 {source="MONDO:equivalentTo", source="DOID:14693"} -xref: UMLS:C0162361 {source="NCBI:mim2gene_medline", source="OMIM:129500", source="MONDO:notFoundInDiseaseSubset", source="DOID:14693", source="ORDO:189/e", source="Orphanet:189"} +xref: UMLS:C0162361 {source="NCBI:mim2gene_medline", source="OMIM:129500", source="Orphanet:189/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:14693", source="Orphanet:189"} xref: UMLS:C2931169 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0004253"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="OMIM:129500", source="Orphanet:189", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome @@ -134370,9 +134341,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1818"} synonym: "ectodermal dysplasia trichoodontoonychial type" RELATED [GARD:0002055] synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510] xref: GARD:0002055 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="Orphanet:1818", source="ORDO:1818/attributed", source="ORDO:1818/ntbt"} +xref: ICD10CM:Q82.4 {source="Orphanet:1818", source="Orphanet:1818/attributed", source="Orphanet:1818/ntbt"} xref: MESH:C565068 {source="MONDO:equivalentTo"} -xref: OMIM:129510 {source="Orphanet:1818", source="MONDO:equivalentTo", source="ORDO:1818/e"} +xref: OMIM:129510 {source="Orphanet:1818", source="MONDO:equivalentTo", source="Orphanet:1818/e"} xref: Orphanet:1818 {source="OMIM:129510", source="MONDO:equivalentTo"} xref: SCTID:734018003 {source="MONDO:equivalentTo"} xref: UMLS:C1851858 {source="Orphanet:1818", source="OMIM:129510", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -134481,9 +134452,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1895"} synonym: "Edinburgh malformation syndrome" EXACT [OMIM:129850] synonym: "typus Edinburgensis" EXACT [Orphanet:1895] xref: GARD:0002074 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q95.2 {source="Orphanet:1895", source="ORDO:1895/attributed", source="ORDO:1895/ntbt"} +xref: ICD10CM:Q95.2 {source="Orphanet:1895/attributed", source="Orphanet:1895/ntbt", source="Orphanet:1895"} xref: MESH:C563051 {source="MONDO:equivalentTo"} -xref: OMIM:129850 {source="Orphanet:1895", source="ORDO:1895/e", source="MONDO:equivalentTo"} +xref: OMIM:129850 {source="Orphanet:1895", source="MONDO:equivalentTo", source="Orphanet:1895/e"} xref: Orphanet:1895 {source="OMIM:129850", source="MONDO:equivalentTo"} xref: UMLS:C0795933 {source="OMIM:129850", source="Orphanet:1895", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018731 {source="Orphanet:1895", source="indirect"} ! lethal multiple congenital anomalies/dysmorphic syndrome @@ -134557,7 +134528,7 @@ synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [OMIM:130000] xref: GARD:0002088 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:287/attributed", source="ORDO:287/ntbt", source="Orphanet:287"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:287/attributed", source="Orphanet:287/ntbt", source="Orphanet:287"} xref: Orphanet:287 {source="MONDO:equivalentTo", source="OMIM:130000"} xref: Orphanet:90309 {source="MONDO:superClassOf", source="OMIM:130000"} xref: SCTID:715318006 {source="MONDO:equivalentTo"} @@ -134597,10 +134568,10 @@ synonym: "hypermobile EDS" RELATED [GARD:0002081] synonym: "hypermobile Ehlers-Danlos syndrome" RELATED [GARD:0002081] xref: DOID:14757 {source="MONDO:equivalentTo"} xref: GARD:0002081 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:285/attributed", source="ORDO:285/ntbt", source="Orphanet:285"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:285", source="Orphanet:285/attributed", source="Orphanet:285/ntbt"} xref: MESH:C536196 {source="DOID:14757", source="MONDO:equivalentTo"} xref: NCIT:C125698 {source="MONDO:equivalentTo"} -xref: OMIM:130020 {source="DOID:14757", source="MONDO:equivalentTo", source="ORDO:285/e", source="Orphanet:285"} +xref: OMIM:130020 {source="DOID:14757", source="Orphanet:285/e", source="MONDO:equivalentTo", source="Orphanet:285"} xref: Orphanet:285 {source="MONDO:equivalentTo", source="OMIM:130020"} xref: SCTID:30652003 {source="DOID:14757", source="MONDO:equivalentTo"} xref: UMLS:C0268337 {source="DOID:14757", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130020", source="NCIT:C125698", source="Orphanet:285"} @@ -134655,10 +134626,10 @@ synonym: "Ehlers-Danlos syndrome, type VII" EXACT [NCIT:C125701] synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [OMIM:130060] synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [OMIM:130060] xref: GARD:0002084 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:1899/attributed", source="ORDO:1899/ntbt", source="Orphanet:1899"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:1899", source="Orphanet:1899/attributed", source="Orphanet:1899/ntbt"} xref: MESH:C562625 {source="MONDO:equivalentTo"} xref: NCIT:C125701 {source="MONDO:equivalentTo"} -xref: OMIM:130060 {source="MONDO:equivalentTo", source="Orphanet:1899", source="ORDO:1899/e", source="GARD:0002084"} +xref: OMIM:130060 {source="MONDO:equivalentTo", source="Orphanet:1899", source="GARD:0002084", source="Orphanet:1899/e"} xref: Orphanet:1899 {source="OMIM:130060", source="MONDO:equivalentTo", source="GARD:0002084"} xref: Orphanet:99875 {source="OMIM:130060", source="MONDO:superClassOf"} xref: Orphanet:99876 {source="OMIM:130060", source="MONDO:superClassOf"} @@ -134695,13 +134666,13 @@ synonym: "XGPT deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] xref: DOID:0050802 {source="MONDO:equivalentTo"} xref: GARD:0009991 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:75496/attributed", source="ORDO:75496/ntbt", source="Orphanet:75496"} -xref: MESH:C536201 {source="MONDO:equivalentTo", source="DOID:0050802", source="ORDO:75496/e", source="Orphanet:75496"} -xref: OMIM:130070 {source="MONDO:superClassOf", source="DOID:0050802", source="ORDO:75496/nd", source="Orphanet:75496"} -xref: OMIM:615349 {source="MONDO:superClassOf", source="DOID:0050802", source="ORDO:75496/btnt", source="Orphanet:75496"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75496/attributed", source="Orphanet:75496/ntbt", source="Orphanet:75496"} +xref: MESH:C536201 {source="Orphanet:75496/e", source="MONDO:equivalentTo", source="DOID:0050802", source="Orphanet:75496"} +xref: OMIM:130070 {source="Orphanet:75496/nd", source="MONDO:superClassOf", source="DOID:0050802", source="Orphanet:75496"} +xref: OMIM:615349 {source="MONDO:superClassOf", source="Orphanet:75496/btnt", source="DOID:0050802", source="Orphanet:75496"} xref: Orphanet:75496 {source="OMIM:130070", source="MONDO:equivalentTo", source="DOID:0050802"} xref: SCTID:720861000 {source="MONDO:equivalentTo"} -xref: UMLS:C1869122 {source="OMIM:130070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050802", source="ORDO:75496/e", source="Orphanet:75496"} +xref: UMLS:C1869122 {source="OMIM:130070", source="Orphanet:75496/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050802", source="Orphanet:75496"} is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005093 ! skin disorder is_a: MONDO:0017742 {source="Orphanet:75496"} ! disorder of O-xylosylglycan synthesis @@ -134734,10 +134705,10 @@ synonym: "pEDS" RELATED [GARD:0012474] synonym: "periodontal EDS" RELATED [GARD:0012474] synonym: "periodontal Ehlers-Danlos syndrome" RELATED [GARD:0012474] xref: GARD:0012474 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:75392/attributed", source="ORDO:75392/ntbt", source="Orphanet:75392"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75392/attributed", source="Orphanet:75392/ntbt", source="Orphanet:75392"} xref: MESH:C562626 {source="MONDO:equivalentTo"} -xref: OMIM:130080 {source="ORDO:75392/e", source="MONDO:superClassOf", source="Orphanet:75392"} -xref: OMIM:617174 {source="ORDO:75392/btnt", source="MONDO:superClassOf", source="Orphanet:75392"} +xref: OMIM:130080 {source="Orphanet:75392/e", source="MONDO:superClassOf", source="Orphanet:75392"} +xref: OMIM:617174 {source="MONDO:superClassOf", source="Orphanet:75392/btnt", source="Orphanet:75392"} xref: Orphanet:75392 {source="OMIM:130080", source="MONDO:equivalentTo"} xref: SCTID:50869007 {source="MONDO:equivalentTo"} xref: UMLS:C0268347 {source="OMIM:130080", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:75392"} @@ -134767,13 +134738,13 @@ synonym: "elastosis perforans serpiginosa" EXACT [MONDO:Lexical, OMIM:130100] synonym: "eps" RELATED [MONDO:Lexical, OMIM:130100] synonym: "Miescher elastoma" RELATED [OMIM:130100] xref: GARD:0010103 {source="MONDO:equivalentTo"} -xref: ICD10CM:L87.2 {source="MONDO:equivalentTo", source="ORDO:79148/ntbt", source="Orphanet:79148"} -xref: MedDRA:10014338 {source="ORDO:79148/e", source="Orphanet:79148"} -xref: MESH:C536202 {source="MONDO:equivalentTo", source="ORDO:79148/e", source="Orphanet:79148"} -xref: OMIM:130100 {source="MONDO:equivalentTo", source="ORDO:79148/e", source="Orphanet:79148"} +xref: ICD10CM:L87.2 {source="MONDO:equivalentTo", source="Orphanet:79148/ntbt", source="Orphanet:79148"} +xref: MedDRA:10014338 {source="Orphanet:79148/e", source="Orphanet:79148"} +xref: MESH:C536202 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"} +xref: OMIM:130100 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"} xref: Orphanet:79148 {source="MONDO:equivalentTo", source="OMIM:130100"} xref: SCTID:49428008 {source="MONDO:equivalentTo"} -xref: UMLS:C0221271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130100", source="ORDO:79148/e", source="Orphanet:79148"} +xref: UMLS:C0221271 {source="Orphanet:79148/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130100", source="Orphanet:79148"} is_a: MONDO:0019292 {source="MONDO:cjm", source="Orphanet:79148/inferred", source="https://github.com/Orphanet/ORDO/issues/3"} ! dermis elastic tissue disorder relationship: excluded_subClassOf MONDO:0016436 {source="Orphanet:79148"} ! obsolete acquired dermis elastic tissue disorder with increased elastic tissue property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa xsd:anyURI {source="GARD:0010103"} @@ -134843,15 +134814,15 @@ synonym: "Wiedemann-Beckwith syndrome" EXACT [OMIM:130650, Orphanet:116] synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343] xref: DOID:5572 {source="MONDO:equivalentTo"} xref: GARD:0003343 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="Orphanet:116", source="ORDO:116/inclusion", source="ORDO:116/ntbt", source="DOID:5572"} +xref: ICD10CM:Q87.3 {source="Orphanet:116/ntbt", source="Orphanet:116", source="Orphanet:116/inclusion", source="DOID:5572"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050344 {source="Orphanet:116", source="ORDO:116/e"} -xref: MESH:D001506 {source="Orphanet:116", source="MONDO:equivalentTo", source="ORDO:116/e", source="DOID:5572"} +xref: MedDRA:10050344 {source="Orphanet:116", source="Orphanet:116/e"} +xref: MESH:D001506 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"} xref: NCIT:C34415 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5572"} -xref: OMIM:130650 {source="Orphanet:116", source="MONDO:equivalentTo", source="ORDO:116/e", source="DOID:5572"} +xref: OMIM:130650 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"} xref: Orphanet:116 {source="MONDO:equivalentTo", source="OMIM:130650", source="DOID:5572"} xref: SCTID:81780002 {source="MONDO:equivalentTo", source="DOID:5572"} -xref: UMLS:C0004903 {source="Orphanet:116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:130650", source="NCIT:C34415", source="ORDO:116/e", source="DOID:5572"} +xref: UMLS:C0004903 {source="Orphanet:116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:116/e", source="OMIM:130650", source="NCIT:C34415", source="DOID:5572"} xref: UMLS:C1851719 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:130650"} is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder @@ -134885,14 +134856,14 @@ synonym: "congenital lobar hyperinflation" EXACT [Orphanet:1928] synonym: "emphysema, congenital lobar" RELATED [MONDO:Lexical, OMIM:130710] synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928] xref: GARD:0002104 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q33.8 {source="Orphanet:1928", source="ORDO:1928/attributed", source="ORDO:1928/ntbt"} -xref: MedDRA:10010456 {source="Orphanet:1928", source="ORDO:1928/e"} -xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="ORDO:1928/e"} +xref: ICD10CM:Q33.8 {source="Orphanet:1928", source="Orphanet:1928/attributed", source="Orphanet:1928/ntbt"} +xref: MedDRA:10010456 {source="Orphanet:1928", source="Orphanet:1928/e"} +xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"} xref: NCIT:C98895 {source="MONDO:equivalentTo"} -xref: OMIM:130710 {source="Orphanet:1928", source="MONDO:equivalentTo", source="ORDO:1928/e"} +xref: OMIM:130710 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"} xref: Orphanet:1928 {source="MONDO:equivalentTo", source="OMIM:130710"} xref: SCTID:66987001 {source="MONDO:equivalentTo"} -xref: UMLS:C0265797 {source="Orphanet:1928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C98895", source="OMIM:130710", source="ORDO:1928/e"} +xref: UMLS:C0265797 {source="Orphanet:1928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1928/e", source="NCIT:C98895", source="OMIM:130710"} is_a: MONDO:0004849 {source="DC-OMIM:130710", source="MESH:C535735", source="MONDO:Redundant", source="NCIT:C98895"} ! pulmonary emphysema is_a: MONDO:0005087 {source="Orphanet:1928", source="Orphanet:1928/inferred"} ! respiratory system disorder is_a: MONDO:0015930 {source="Orphanet:1928"} ! respiratory malformation @@ -134911,12 +134882,12 @@ synonym: "LMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130720] synonym: "Lms" RELATED [OMIM:130720] xref: DOID:0111343 {source="MONDO:equivalentTo"} xref: GARD:0009873 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.5 {source="ORDO:2789/attributed", source="ORDO:2789/ntbt", source="Orphanet:2789"} +xref: ICD10CM:Q87.5 {source="Orphanet:2789", source="Orphanet:2789/attributed", source="Orphanet:2789/ntbt"} xref: MESH:C537878 {source="MONDO:equivalentTo"} -xref: OMIM:130720 {source="MONDO:equivalentTo", source="ORDO:2789/e", source="Orphanet:2789"} +xref: OMIM:130720 {source="MONDO:equivalentTo", source="Orphanet:2789", source="Orphanet:2789/e"} xref: Orphanet:2789 {source="MONDO:equivalentTo", source="OMIM:130720"} -xref: UMLS:C0344487 {source="ORDO:2789/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2789"} -xref: UMLS:C1851710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2789/e", source="Orphanet:2789", source="OMIM:130720"} +xref: UMLS:C0344487 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2789", source="Orphanet:2789/e"} +xref: UMLS:C1851710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2789", source="OMIM:130720", source="Orphanet:2789/e"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7883 {source="mim2gene_medgen"} ! NOTCH3 property_value: confidence "8.375" xsd:double @@ -134943,10 +134914,10 @@ synonym: "amelogenesis imperfecta, type IIIA" RELATED [OMIM:130900] synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [DOID:0110055] synonym: "FAM83H amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110055 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="Orphanet:100032", source="DOID:0110055", source="ORDO:100032/attributed", source="ORDO:100032/ntbt"} +xref: ICD10CM:K00.5 {source="Orphanet:100032", source="Orphanet:100032/attributed", source="Orphanet:100032/ntbt", source="DOID:0110055"} xref: MESH:C562880 {source="MONDO:equivalentTo"} -xref: OMIM:130900 {source="Orphanet:100032", source="MONDO:equivalentTo", source="DOID:0110055", source="ORDO:100032/e"} -xref: OMIM:616221 {source="Orphanet:100032", source="MONDO:superClassOf", source="ORDO:100032/btnt"} +xref: OMIM:130900 {source="Orphanet:100032", source="MONDO:equivalentTo", source="Orphanet:100032/e", source="DOID:0110055"} +xref: OMIM:616221 {source="Orphanet:100032", source="Orphanet:100032/btnt", source="MONDO:superClassOf"} xref: Orphanet:100032 {source="OMIM:130900", source="MONDO:equivalentTo"} xref: SCTID:109471001 {source="MONDO:equivalentTo"} xref: UMLS:C0399376 {source="Orphanet:100032", source="OMIM:130900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -135007,18 +134978,18 @@ synonym: "Wermer syndrome" EXACT [DOID:10017, NCIT:C3225, OMIM:131100, Orphanet: synonym: "Wermer's syndrome" EXACT [DOID:10017, NCIT:C3225] xref: DOID:10017 {source="MONDO:equivalentTo"} xref: GARD:0003829 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="ORDO:652/attributed", source="ORDO:652/ntbt", source="Orphanet:652"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:652/attributed", source="Orphanet:652/ntbt", source="Orphanet:652"} xref: ICD10CM:E31.21 {source="DOID:10017"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:258.01 {source="DOID:10017", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028190 {source="ORDO:652/e", source="Orphanet:652"} -xref: MESH:D018761 {source="DOID:10017", source="MONDO:equivalentTo", source="ORDO:652/e", source="Orphanet:652"} +xref: MedDRA:10028190 {source="Orphanet:652/e", source="Orphanet:652"} +xref: MESH:D018761 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="Orphanet:652"} xref: NCIT:C3225 {source="DOID:10017", source="MONDO:equivalentTo"} -xref: OMIM:131100 {source="DOID:10017", source="MONDO:equivalentTo", source="ORDO:652/e", source="Orphanet:652"} +xref: OMIM:131100 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="Orphanet:652"} xref: Orphanet:652 {source="DOID:10017", source="MONDO:equivalentTo", source="OMIM:131100"} xref: SCTID:190566000 {source="DOID:10017"} xref: SCTID:30664006 {source="DOID:10017", source="MONDO:equivalentTo"} -xref: UMLS:C0025267 {source="DOID:10017", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131100", source="NCIT:C3225", source="ORDO:652/e", source="Orphanet:652"} +xref: UMLS:C0025267 {source="DOID:10017", source="Orphanet:652/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131100", source="NCIT:C3225", source="Orphanet:652"} xref: UMLS:C3149237 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:131100"} is_a: MONDO:0000426 {source="DOID:10017", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015077 {source="Orphanet:652"} ! adrenal/paraganglial tumor @@ -135063,18 +135034,18 @@ synonym: "Engelmann disease" RELATED [OMIM:131300] synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, OMIM:131300, Orphanet:1328] xref: DOID:4997 {source="MONDO:equivalentTo"} xref: GARD:0001072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.3 {source="DOID:4997", source="ORDO:1328/e", source="Orphanet:1328", source="ORDO:1328/specific"} +xref: ICD10CM:Q78.3 {source="Orphanet:1328/e", source="Orphanet:1328/specific", source="DOID:4997", source="Orphanet:1328"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D003966 {source="DOID:4997", source="ORDO:1328/e", source="Orphanet:1328"} +xref: MESH:D003966 {source="Orphanet:1328/e", source="DOID:4997", source="Orphanet:1328"} xref: NCIT:C84610 {source="MONDO:equivalentTo", source="DOID:4997"} -xref: OMIM:131300 {source="MONDO:equivalentTo", source="DOID:4997", source="ORDO:1328/e", source="Orphanet:1328"} +xref: OMIM:131300 {source="Orphanet:1328/e", source="MONDO:equivalentTo", source="DOID:4997", source="Orphanet:1328"} xref: OMIM:606631 {source="DOID:4997", source="MONDO:superClassOf"} xref: Orphanet:1328 {source="MONDO:equivalentTo", source="OMIM:131300"} xref: SCTID:205505000 {source="DOID:4997"} xref: SCTID:240174009 {source="DOID:4997"} xref: SCTID:318761000119105 {source="MONDO:equivalentTo", source="DOID:4997"} xref: SCTID:34643004 {source="DOID:4997"} -xref: UMLS:C0011989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4997", source="ORDO:1328/e", source="OMIM:131300", source="Orphanet:1328", source="NCIT:C84610"} +xref: UMLS:C0011989 {source="Orphanet:1328/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4997", source="OMIM:131300", source="Orphanet:1328", source="NCIT:C84610"} xref: UMLS:C2931842 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:131300"} is_a: MONDO:0002254 {source="NCIT:C84610"} ! syndromic disease is_a: MONDO:0018230 {source="Orphanet:1328"} ! primary bone dysplasia @@ -135131,7 +135102,7 @@ xref: MESH:C565054 {source="MONDO:equivalentTo"} xref: OMIM:131440 {source="MONDO:equivalentTo"} xref: Orphanet:86830 {source="MONDO:subClassOf", source="OMIM:131440"} xref: UMLS:C1851585 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:131440"} -is_a: MONDO:0019452 {source="ORDO:86830/btnt"} ! myeloproliferative neoplasm, unclassifiable +is_a: MONDO:0019452 {source="Orphanet:86830/btnt"} ! myeloproliferative neoplasm, unclassifiable is_a: MONDO:0020076 {source="MONDO:Redundant", source="indirect"} ! myeloproliferative neoplasm relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8804 {source="mim2gene_medgen"} ! PDGFRB relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -135178,11 +135149,11 @@ synonym: "transient bullous dermolysis of the newborn" EXACT [MONDO:Lexical, OMI synonym: "transient bullous of the newborn" EXACT [OMIM:131705, OMIM:genemap2] xref: DOID:0111345 {source="MONDO:equivalentTo"} xref: GARD:0010010 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.2 {source="ORDO:79411/attributed", source="ORDO:79411/ntbt", source="Orphanet:79411"} -xref: MESH:C536979 {source="MONDO:equivalentTo", source="ORDO:79411/e", source="Orphanet:79411"} -xref: OMIM:131705 {source="MONDO:equivalentTo", source="ORDO:79411/e", source="Orphanet:79411"} +xref: ICD10CM:Q81.2 {source="Orphanet:79411/attributed", source="Orphanet:79411/ntbt", source="Orphanet:79411"} +xref: MESH:C536979 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} +xref: OMIM:131705 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} xref: Orphanet:79411 {source="OMIM:131705", source="MONDO:equivalentTo"} -xref: UMLS:C1851573 {source="NCBI:mim2gene_medline", source="OMIM:131705", source="MONDO:equivalentTo", source="ORDO:79411/e", source="Orphanet:79411"} +xref: UMLS:C1851573 {source="NCBI:mim2gene_medline", source="OMIM:131705", source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} is_a: MONDO:0006543 {source="Orphanet:79411"} ! epidermolysis bullosa dystrophica relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2214 {source="mim2gene_medgen"} ! COL7A1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -135213,9 +135184,9 @@ synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica, Pasini type (formerly)" RELATED [GARD:0002139] xref: DOID:0080224 {source="MONDO:equivalentTo"} xref: GARD:0002139 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q81.2 {source="ORDO:231568/attributed", source="ORDO:231568/ntbt", source="Orphanet:231568"} +xref: ICD10CM:Q81.2 {source="Orphanet:231568", source="Orphanet:231568/attributed", source="Orphanet:231568/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:131750 {source="DOID:0080224", source="MONDO:equivalentTo", source="Orphanet:231568", source="ORDO:231568/e"} +xref: OMIM:131750 {source="DOID:0080224", source="MONDO:equivalentTo", source="Orphanet:231568", source="Orphanet:231568/e"} xref: Orphanet:231568 {source="MONDO:equivalentTo", source="OMIM:131750"} xref: SCTID:75875004 {source="MONDO:equivalentTo"} xref: UMLS:C0432322 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:231568", source="OMIM:131750"} @@ -135246,9 +135217,9 @@ synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orp synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735] xref: DOID:0060735 {source="MONDO:equivalentTo"} xref: GARD:0002141 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:79396/attributed", source="ORDO:79396/ntbt", source="DOID:0060735", source="Orphanet:79396"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:79396/attributed", source="Orphanet:79396/ntbt", source="DOID:0060735", source="Orphanet:79396"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:131760 {source="MONDO:equivalentTo", source="ORDO:79396/e", source="DOID:0060735", source="Orphanet:79396"} +xref: OMIM:131760 {source="Orphanet:79396/e", source="MONDO:equivalentTo", source="DOID:0060735", source="Orphanet:79396"} xref: Orphanet:79396 {source="MONDO:equivalentTo", source="OMIM:131760", source="DOID:0060735"} xref: SCTID:254179000 {source="MONDO:equivalentTo"} xref: UMLS:C0079295 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131760", source="Orphanet:79396"} @@ -135275,9 +135246,9 @@ synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146] synonym: "Weber-Cockayne type epidermolysis bullosa simplex" RELATED [GARD:0002146] xref: DOID:0080510 {source="MONDO:equivalentTo"} xref: GARD:0002146 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:79400/attributed", source="ORDO:79400/ntbt", source="Orphanet:79400"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:79400/attributed", source="Orphanet:79400/ntbt", source="Orphanet:79400"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:131800 {source="MONDO:equivalentTo", source="ORDO:79400/e", source="Orphanet:79400"} +xref: OMIM:131800 {source="Orphanet:79400/e", source="MONDO:equivalentTo", source="Orphanet:79400"} xref: Orphanet:79400 {source="OMIM:131800", source="MONDO:equivalentTo"} xref: SCTID:294705005 {source="MONDO:equivalentTo"} xref: UMLS:C0080333 {source="OMIM:131800", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79400"} @@ -135299,10 +135270,10 @@ synonym: "epidermolysis bullosa, pretibial" RELATED [OMIM:131850] synonym: "pretibial DEB" EXACT [Orphanet:79410] synonym: "pretibial epidermolysis bullosa" RELATED [GARD:0002155] xref: GARD:0002155 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q81.2 {source="ORDO:79410/attributed", source="ORDO:79410/ntbt", source="Orphanet:79410"} +xref: ICD10CM:Q81.2 {source="Orphanet:79410/attributed", source="Orphanet:79410/ntbt", source="Orphanet:79410"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535494 {source="MONDO:equivalentTo"} -xref: OMIM:131850 {source="MONDO:equivalentTo", source="ORDO:79410/e", source="Orphanet:79410"} +xref: OMIM:131850 {source="Orphanet:79410/e", source="MONDO:equivalentTo", source="Orphanet:79410"} xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"} xref: SCTID:67653003 {source="MONDO:equivalentTo"} xref: UMLS:C0432321 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131850", source="Orphanet:79410"} @@ -135338,13 +135309,13 @@ synonym: "generalized EBS" RELATED [GARD:0002147] synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399] synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [Orphanet:79399] xref: GARD:0002147 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:79399/attributed", source="ORDO:79399/ntbt", source="Orphanet:79399"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:79399/attributed", source="Orphanet:79399/ntbt", source="Orphanet:79399"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535961 {source="ORDO:79399/e", source="Orphanet:79399"} -xref: OMIM:131900 {source="MONDO:equivalentTo", source="ORDO:79399/e", source="Orphanet:79399"} +xref: MESH:C535961 {source="Orphanet:79399/e", source="Orphanet:79399"} +xref: OMIM:131900 {source="Orphanet:79399/e", source="MONDO:equivalentTo", source="Orphanet:79399"} xref: Orphanet:79399 {source="OMIM:131900", source="MONDO:equivalentTo"} xref: SCTID:90496008 {source="MONDO:equivalentTo"} -xref: UMLS:C0079299 {source="OMIM:131900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79399/e", source="Orphanet:79399"} +xref: UMLS:C0079299 {source="OMIM:131900", source="Orphanet:79399/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79399"} is_a: MONDO:0015551 {source="Orphanet:79399"} ! basal epidermolysis bullosa simplex relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "5.0" xsd:double @@ -135362,13 +135333,13 @@ synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [OMIM:131950, OMIM: synonym: "epidermolysis bullosa simplex, Ogna type" EXACT [MONDO:Lexical, OMIM:131950] xref: DOID:0060736 {source="MONDO:equivalentTo"} xref: GARD:0002148 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="DOID:0060736", source="ORDO:79401/attributed", source="ORDO:79401/ntbt", source="Orphanet:79401"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:79401/attributed", source="Orphanet:79401/ntbt", source="DOID:0060736", source="Orphanet:79401"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535962 {source="MONDO:equivalentTo", source="ORDO:79401/e", source="Orphanet:79401"} -xref: OMIM:131950 {source="MONDO:equivalentTo", source="DOID:0060736", source="ORDO:79401/e", source="Orphanet:79401"} +xref: MESH:C535962 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="Orphanet:79401"} +xref: OMIM:131950 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="DOID:0060736", source="Orphanet:79401"} xref: Orphanet:79401 {source="MONDO:equivalentTo", source="DOID:0060736", source="OMIM:131950"} xref: SCTID:398071000 {source="MONDO:equivalentTo"} -xref: UMLS:C0432317 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131950", source="ORDO:79401/e", source="Orphanet:79401"} +xref: UMLS:C0432317 {source="Orphanet:79401/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131950", source="Orphanet:79401"} is_a: MONDO:0015551 {source="Orphanet:79401"} ! basal epidermolysis bullosa simplex relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9069 {source="mim2gene_medgen"} ! PLEC relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -135390,13 +135361,13 @@ synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and ch synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" RELATED [GARD:0009737] xref: DOID:0111346 {source="MONDO:equivalentTo"} xref: GARD:0009737 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:79397/attributed", source="ORDO:79397/ntbt", source="Orphanet:79397"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:79397", source="Orphanet:79397/attributed", source="Orphanet:79397/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535959 {source="MONDO:equivalentTo", source="ORDO:79397/e", source="Orphanet:79397"} -xref: OMIM:131960 {source="MONDO:equivalentTo", source="ORDO:79397/e", source="Orphanet:79397"} +xref: MESH:C535959 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"} +xref: OMIM:131960 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"} xref: Orphanet:79397 {source="MONDO:equivalentTo", source="OMIM:131960"} xref: SCTID:254180002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432316 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79397/e", source="OMIM:131960", source="Orphanet:79397"} +xref: UMLS:C0432316 {source="Orphanet:79397/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131960", source="Orphanet:79397"} is_a: MONDO:0015551 {source="Orphanet:79397"} ! basal epidermolysis bullosa simplex relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6442 {source="mim2gene_medgen"} ! KRT5 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -135430,10 +135401,10 @@ subset: ordo_disease {source="Orphanet:25968"} synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132090] synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090] xref: GARD:0002170 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.0 {source="Orphanet:25968", source="ORDO:25968/attributed", source="ORDO:25968/ntbt"} -xref: OMIM:132090 {source="ORDO:25968/e", source="Orphanet:25968", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.0 {source="Orphanet:25968/attributed", source="Orphanet:25968/ntbt", source="Orphanet:25968"} +xref: OMIM:132090 {source="Orphanet:25968", source="MONDO:equivalentTo", source="Orphanet:25968/e"} xref: Orphanet:25968 {source="MONDO:equivalentTo", source="OMIM:132090"} -xref: UMLS:C1851549 {source="ORDO:25968/e", source="NCBI:mim2gene_medline", source="Orphanet:25968", source="MONDO:equivalentTo", source="OMIM:132090"} +xref: UMLS:C1851549 {source="NCBI:mim2gene_medline", source="Orphanet:25968", source="MONDO:equivalentTo", source="Orphanet:25968/e", source="OMIM:132090"} is_a: MONDO:0020072 {source="Orphanet:25968"} ! childhood-onset epilepsy syndrome property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital xsd:anyURI {source="GARD:0002170"} @@ -135458,10 +135429,10 @@ id: MONDO:0007560 name: reading seizures subset: ordo_disease {source="Orphanet:166433"} synonym: "epilepsy, reading" RELATED [OMIM:132300] -xref: ICD10CM:G40.8 {source="Orphanet:166433", source="ORDO:166433/ntbt"} -xref: OMIM:132300 {source="Orphanet:166433", source="ORDO:166433/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.8 {source="Orphanet:166433/ntbt", source="Orphanet:166433"} +xref: OMIM:132300 {source="Orphanet:166433", source="MONDO:equivalentTo", source="Orphanet:166433/e"} xref: Orphanet:166433 {source="MONDO:equivalentTo", source="OMIM:132300"} -xref: UMLS:C0278193 {source="Orphanet:166433", source="NCBI:mim2gene_medline", source="ORDO:166433/e", source="MONDO:equivalentTo", source="OMIM:132300"} +xref: UMLS:C0278193 {source="Orphanet:166433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166433/e", source="OMIM:132300"} is_a: MONDO:0017768 {source="Orphanet:166433"} ! reflex epilepsy property_value: confidence "3.533333333333334" xsd:double @@ -135486,12 +135457,12 @@ synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [OMIM:132400] synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308] xref: DOID:0070303 {source="MONDO:equivalentTo"} xref: GARD:0002180 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="ORDO:93308/attributed", source="ORDO:93308/ntbt", source="MONDO:relatedTo", source="Orphanet:93308"} -xref: MESH:C535501 {source="ORDO:93308/e", source="Orphanet:93308"} -xref: OMIM:132400 {source="MONDO:equivalentTo", source="GARD:0002180", source="ORDO:93308/e", source="Orphanet:93308"} +xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93308/attributed", source="Orphanet:93308/ntbt", source="Orphanet:93308"} +xref: MESH:C535501 {source="Orphanet:93308/e", source="Orphanet:93308"} +xref: OMIM:132400 {source="Orphanet:93308/e", source="MONDO:equivalentTo", source="GARD:0002180", source="Orphanet:93308"} xref: Orphanet:93308 {source="MONDO:equivalentTo", source="OMIM:132400"} xref: SCTID:715673002 {source="MONDO:equivalentTo"} -xref: UMLS:C1838280 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0002180", source="OMIM:132400", source="ORDO:93308/e", source="Orphanet:93308"} +xref: UMLS:C1838280 {source="Orphanet:93308/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0002180", source="OMIM:132400", source="Orphanet:93308"} xref: UMLS:C1851537 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:132400"} xref: UMLS:C1851538 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:132400"} xref: UMLS:C4275061 {source="MONDO:equivalentTo"} @@ -135512,9 +135483,9 @@ synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" R synonym: "epiphyseal dysplasia, multiple, with myopia and deafness" EXACT [OMIM:132450, OMIM:genemap2] synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphanet:166011] xref: DOID:0111348 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="ORDO:166011/attributed", source="ORDO:166011/ntbt"} +xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="Orphanet:166011/attributed", source="Orphanet:166011/ntbt"} xref: MESH:C565046 {source="MONDO:equivalentTo"} -xref: OMIM:132450 {source="Orphanet:166011", source="ORDO:166011/e", source="MONDO:equivalentTo", source="MEDIC:C565046"} +xref: OMIM:132450 {source="Orphanet:166011", source="MONDO:equivalentTo", source="Orphanet:166011/e", source="MEDIC:C565046"} xref: Orphanet:166011 {source="MONDO:equivalentTo", source="OMIM:132450"} xref: SCTID:719689005 {source="MONDO:equivalentTo"} xref: UMLS:C1851536 {source="Orphanet:166011", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:132450"} @@ -135549,17 +135520,17 @@ synonym: "PTR" RELATED ABBREVIATION [GARD:0009452] xref: DOID:5374 {source="MONDO:equivalentTo"} xref: EFO:0009082 {source="MONDO:equivalentTo"} xref: GARD:0009452 {source="MONDO:equivalentTo"} -xref: ICD10CM:C44.3 {source="ORDO:91414/btnt", source="Orphanet:91414"} -xref: ICD10CM:C44.6 {source="ORDO:91414/btnt", source="Orphanet:91414"} +xref: ICD10CM:C44.3 {source="Orphanet:91414", source="Orphanet:91414/btnt"} +xref: ICD10CM:C44.6 {source="Orphanet:91414", source="Orphanet:91414/btnt"} xref: ICDO:8110/0 {source="NCIT:C7368"} -xref: MedDRA:10035040 {source="ORDO:91414/e", source="Orphanet:91414"} -xref: MESH:D018296 {source="MONDO:equivalentTo", source="ORDO:91414/e", source="Orphanet:91414", source="DOID:5374"} +xref: MedDRA:10035040 {source="Orphanet:91414/e", source="Orphanet:91414"} +xref: MESH:D018296 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"} xref: NCIT:C7368 {source="MONDO:equivalentTo", source="DOID:5374"} -xref: OMIM:132600 {source="MONDO:equivalentTo", source="ORDO:91414/e", source="Orphanet:91414", source="DOID:5374"} +xref: OMIM:132600 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"} xref: Orphanet:91414 {source="MONDO:equivalentTo", source="OMIM:132600"} xref: SCTID:274901004 {source="MONDO:equivalentTo", source="DOID:5374"} xref: SCTID:44155009 {source="DOID:5374"} -xref: UMLS:C0206711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C7368", source="ORDO:91414/e", source="Orphanet:91414", source="OMIM:132600", source="DOID:5374"} +xref: UMLS:C0206711 {source="Orphanet:91414/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C7368", source="Orphanet:91414", source="OMIM:132600", source="DOID:5374"} xref: UMLS:C0853031 {source="MONDO:equivalentTo"} is_a: MONDO:0003413 {source="DOID:5374", source="NCIT:C7368/inferred"} ! hair follicle neoplasm relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:91414"} ! obsolete rare skin tumor or hamartoma @@ -135581,14 +135552,14 @@ synonym: "turban tumor" EXACT [NCIT:C43352] synonym: "turban tumor syndrome" EXACT [Orphanet:211] synonym: "turban tumors" RELATED [GARD:0009707] xref: GARD:0009707 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536611 {source="MONDO:equivalentTo", source="ORDO:211/e", source="Orphanet:211"} +xref: MESH:C536611 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} xref: NCIT:C43352 {source="MONDO:equivalentTo"} -xref: OMIM:132700 {source="MONDO:equivalentTo", source="ORDO:211/e", source="Orphanet:211"} +xref: OMIM:132700 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} xref: Orphanet:211 {source="MONDO:equivalentTo", source="OMIM:132700"} xref: Orphanet:79493 {source="MONDO:subClassOf", source="OMIM:132700"} xref: UMLS:C1305968 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:132700"} -xref: UMLS:C1704217 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:211/e", source="Orphanet:211"} -xref: UMLS:C1851526 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:211/e", source="Orphanet:211"} +xref: UMLS:C1704217 {source="Orphanet:211/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211"} +xref: UMLS:C1851526 {source="NCBI:mim2gene_medline", source="Orphanet:211/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211"} is_a: MONDO:0011512 {source="Orphanet:211"} ! Brooke-Spiegler syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2584 {source="mim2gene_medgen"} ! CYLD relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:132700", source="Orphanet:211"} ! Autosomal dominant inheritance @@ -135618,12 +135589,12 @@ synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED synonym: "self-healing squamous epithelioma type 1" EXACT [Orphanet:65748] xref: DOID:5585 {source="MONDO:equivalentTo"} xref: GARD:0003090 {source="MONDO:equivalentTo"} -xref: ICD10CM:C44.3 {source="ORDO:65748/specific", source="ORDO:65748/btnt", source="Orphanet:65748"} -xref: ICD10CM:C44.6 {source="ORDO:65748/specific", source="ORDO:65748/btnt", source="Orphanet:65748"} -xref: ICD10CM:C44.7 {source="ORDO:65748/specific", source="ORDO:65748/btnt", source="Orphanet:65748"} +xref: ICD10CM:C44.3 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"} +xref: ICD10CM:C44.6 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"} +xref: ICD10CM:C44.7 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"} xref: MESH:C536150 {source="MONDO:equivalentTo"} xref: NCIT:C4461 {source="DOID:5585", source="MONDO:equivalentTo"} -xref: OMIM:132800 {source="ORDO:65748/e", source="MONDO:equivalentTo", source="Orphanet:65748"} +xref: OMIM:132800 {source="MONDO:equivalentTo", source="Orphanet:65748", source="Orphanet:65748/e"} xref: Orphanet:65748 {source="MONDO:equivalentTo", source="OMIM:132800"} xref: SCTID:254659009 {source="DOID:5585", source="MONDO:equivalentTo"} xref: UMLS:C0345982 {source="DOID:5585", source="NCIT:C4461", source="MONDO:equivalentTo"} @@ -135666,7 +135637,7 @@ xref: MESH:C537784 {source="MONDO:equivalentTo"} xref: OMIM:132900 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:132900"} xref: UMLS:C1851504 {source="OMIM:132900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:132900", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:132900", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7569 ! MYH11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7569 {source="mim2gene_medgen"} ! MYH11 @@ -135695,9 +135666,9 @@ subset: ordo_disease {source="Orphanet:231031"} synonym: "erythema palmare hereditarium" EXACT [OMIM:133000] synonym: "lane disease" EXACT [Orphanet:231031] synonym: "Red palms disease" EXACT [Orphanet:231031] -xref: ICD10CM:L59.8 {source="Orphanet:231031", source="ORDO:231031/attributed", source="ORDO:231031/ntbt"} +xref: ICD10CM:L59.8 {source="Orphanet:231031", source="Orphanet:231031/attributed", source="Orphanet:231031/ntbt"} xref: MESH:C565041 {source="MONDO:equivalentTo"} -xref: OMIM:133000 {source="Orphanet:231031", source="MONDO:equivalentTo", source="ORDO:231031/e"} +xref: OMIM:133000 {source="Orphanet:231031", source="MONDO:equivalentTo", source="Orphanet:231031/e"} xref: Orphanet:231031 {source="MONDO:equivalentTo", source="OMIM:133000"} xref: SCTID:763767006 {source="MONDO:equivalentTo"} xref: UMLS:C1851502 {source="Orphanet:231031", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133000"} @@ -135719,9 +135690,9 @@ synonym: "PERYTHM" EXACT ABBREVIATION [NCIT:C125383] synonym: "primary erythromelalgia" EXACT [NCIT:C125383] synonym: "small fiber neuropathy" EXACT [OMIM:133020, OMIM:genemap2] xref: GARD:0006377 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I73.8 {source="ORDO:90026/index", source="ORDO:90026/ntbt", source="Orphanet:90026"} +xref: ICD10CM:I73.8 {source="Orphanet:90026", source="Orphanet:90026/index", source="Orphanet:90026/ntbt"} xref: NCIT:C125383 {source="MONDO:equivalentTo"} -xref: OMIM:133020 {source="MONDO:equivalentTo", source="ORDO:90026/e", source="Orphanet:90026"} +xref: OMIM:133020 {source="MONDO:equivalentTo", source="Orphanet:90026", source="Orphanet:90026/e"} xref: Orphanet:306577 {source="OMIM:133020", source="MONDO:superClassOf"} xref: Orphanet:90026 {source="OMIM:133020", source="MONDO:equivalentTo"} xref: SCTID:709489006 {source="MONDO:equivalentTo"} @@ -135762,9 +135733,9 @@ synonym: "primary familial and congenital polycythemia" EXACT [DOID:0060652, Orp synonym: "primary familial polycythemia" RELATED [Orphanet:90042] xref: DOID:0060652 {source="MONDO:equivalentTo"} xref: GARD:0009843 {source="MONDO:equivalentTo"} -xref: ICD10CM:D75.0 {source="Orphanet:90042", source="DOID:0060652", source="ORDO:90042/attributed", source="ORDO:90042/ntbt"} +xref: ICD10CM:D75.0 {source="Orphanet:90042", source="Orphanet:90042/attributed", source="Orphanet:90042/ntbt", source="DOID:0060652"} xref: ICD9:289.6 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:133100 {source="ORDO:90042/e", source="Orphanet:90042", source="DOID:0060652", source="MONDO:equivalentTo"} +xref: OMIM:133100 {source="Orphanet:90042", source="DOID:0060652", source="MONDO:equivalentTo", source="Orphanet:90042/e"} xref: Orphanet:90042 {source="DOID:0060652", source="MONDO:equivalentTo", source="OMIM:133100"} xref: SCTID:17342003 {source="MONDO:equivalentTo"} xref: UMLS:C0152264 {source="Orphanet:90042", source="OMIM:133100", source="MONDO:notFoundInDiseaseSubset"} @@ -135797,7 +135768,7 @@ xref: OMIM:133180 {source="MONDO:equivalentTo", source="EFO:0000218"} xref: Orphanet:318 {source="MONDO:subClassOf", source="OMIM:133180"} xref: UMLS:C0023440 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C1851482 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:133180"} -is_a: MONDO:0017858 {source="MONDO:Redundant", source="ORDO:318/btnt"} ! acute erythroid leukemia +is_a: MONDO:0017858 {source="MONDO:Redundant", source="Orphanet:318/btnt"} ! acute erythroid leukemia intersection_of: MONDO:0017858 ! acute erythroid leukemia intersection_of: has_modifier MONDO:0021152 ! inherited relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000218"} ! bilineal acute myeloid leukemia @@ -135819,14 +135790,14 @@ synonym: "spinocerebellar ataxia and erythrokeratodermia" EXACT [Orphanet:1955] synonym: "spinocerebellar ataxia type 34" EXACT [MONDORULE:2, OMIM:133190] xref: DOID:0050981 {source="MONDO:equivalentTo"} xref: GARD:0000059 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:1955/attributed", source="ORDO:1955/ntbt", source="Orphanet:1955"} -xref: MESH:C535514 {source="ORDO:1955/e", source="Orphanet:1955"} -xref: MESH:C535738 {source="MONDO:equivalentTo", source="ORDO:1955/e", source="Orphanet:1955"} -xref: OMIM:133190 {source="DOID:0050981", source="GARD:0000059", source="MONDO:equivalentTo", source="ORDO:1955/e", source="Orphanet:1955"} +xref: ICD10CM:G11.1 {source="Orphanet:1955/attributed", source="Orphanet:1955/ntbt", source="Orphanet:1955"} +xref: MESH:C535514 {source="Orphanet:1955/e", source="Orphanet:1955"} +xref: MESH:C535738 {source="Orphanet:1955/e", source="MONDO:equivalentTo", source="Orphanet:1955"} +xref: OMIM:133190 {source="Orphanet:1955/e", source="DOID:0050981", source="GARD:0000059", source="MONDO:equivalentTo", source="Orphanet:1955"} xref: Orphanet:1955 {source="GARD:0000059", source="MONDO:equivalentTo", source="OMIM:133190"} xref: SCTID:719255000 {source="MONDO:equivalentTo"} -xref: UMLS:C1851481 {source="GARD:0000059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1955/e", source="Orphanet:1955", source="OMIM:133190"} -xref: UMLS:C2930921 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1955/e", source="Orphanet:1955"} +xref: UMLS:C1851481 {source="Orphanet:1955/e", source="GARD:0000059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1955", source="OMIM:133190"} +xref: UMLS:C2930921 {source="Orphanet:1955/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1955"} is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:1955", source="Orphanet:1955/inferred"} ! disease or disorder is_a: MONDO:0019270 {source="Orphanet:1955", source="linkedlifedata"} ! erythrokeratoderma is_a: MONDO:0019792 {source="Orphanet:1955"} ! autosomal dominant cerebellar ataxia type I @@ -136002,9 +135973,9 @@ name: exostoses-anetodermia-brachydactyly type E syndrome def: "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." [Orphanet:1962] subset: ordo_malformation_syndrome {source="Orphanet:1962"} synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [OMIM:133690] -xref: ICD10CM:Q87.5 {source="ORDO:1962/attributed", source="ORDO:1962/ntbt", source="Orphanet:1962"} +xref: ICD10CM:Q87.5 {source="Orphanet:1962", source="Orphanet:1962/attributed", source="Orphanet:1962/ntbt"} xref: MESH:C565034 {source="MONDO:equivalentTo"} -xref: OMIM:133690 {source="ORDO:1962/e", source="MONDO:equivalentTo", source="Orphanet:1962"} +xref: OMIM:133690 {source="MONDO:equivalentTo", source="Orphanet:1962", source="Orphanet:1962/e"} xref: Orphanet:1962 {source="OMIM:133690", source="MONDO:equivalentTo"} xref: UMLS:C1851428 {source="OMIM:133690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1962"} is_a: MONDO:0003847 {source="OMIM:133690"} ! Mendelian disease @@ -136070,12 +136041,12 @@ synonym: "Rasmussen Johnsen Thomsen syndrome" RELATED [GARD:0004638] synonym: "Rasmussen syndrome" RELATED [OMIM:133705] synonym: "Rasmussen-Johnsen-Thomsen syndrome" EXACT [Orphanet:3023] xref: GARD:0004638 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3023", source="ORDO:3023/attributed", source="ORDO:3023/ntbt"} -xref: MESH:C535290 {source="Orphanet:3023", source="ORDO:3023/e"} -xref: OMIM:133705 {source="Orphanet:3023", source="MONDO:equivalentTo", source="ORDO:3023/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3023", source="Orphanet:3023/attributed", source="Orphanet:3023/ntbt"} +xref: MESH:C535290 {source="Orphanet:3023", source="Orphanet:3023/e"} +xref: OMIM:133705 {source="Orphanet:3023", source="MONDO:equivalentTo", source="Orphanet:3023/e"} xref: Orphanet:3023 {source="OMIM:133705", source="MONDO:equivalentTo"} xref: UMLS:C1876181 {source="OMIM:133705", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2930867 {source="Orphanet:3023", source="MONDO:equivalentTo", source="ORDO:3023/e"} +xref: UMLS:C2930867 {source="Orphanet:3023", source="MONDO:equivalentTo", source="Orphanet:3023/e"} is_a: MONDO:0015161 {source="Orphanet:3023", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -136093,7 +136064,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1964"} synonym: "Char-Douglas-Dungan syndrome" EXACT [Orphanet:1964] synonym: "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" RELATED [OMIM:133750] xref: MESH:C565032 {source="MONDO:equivalentTo"} -xref: OMIM:133750 {source="MONDO:equivalentTo", source="ORDO:1964/e", source="Orphanet:1964"} +xref: OMIM:133750 {source="MONDO:equivalentTo", source="Orphanet:1964", source="Orphanet:1964/e"} xref: Orphanet:1964 {source="MONDO:equivalentTo", source="OMIM:133750"} xref: UMLS:C1851412 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133750", source="Orphanet:1964"} is_a: MONDO:0015159 {source="Orphanet:1964"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -136129,8 +136100,8 @@ synonym: "facial asymmetry" RELATED [OMIM:133900] synonym: "facial hemihypertrophy" RELATED [OMIM:133900] synonym: "hemifacial hyperplasia" RELATED [OMIM:133900] synonym: "hemifacial hypertrophy" EXACT [OMIM:133900] -xref: ICD10CM:Q67.4 {source="ORDO:141145/ntbt", source="Orphanet:141145", source="ORDO:141145/inclusion"} -xref: OMIM:133900 {source="ORDO:141145/e", source="MONDO:equivalentTo", source="Orphanet:141145"} +xref: ICD10CM:Q67.4 {source="Orphanet:141145/inclusion", source="Orphanet:141145", source="Orphanet:141145/ntbt"} +xref: OMIM:133900 {source="MONDO:equivalentTo", source="Orphanet:141145", source="Orphanet:141145/e"} xref: Orphanet:141145 {source="MONDO:equivalentTo", source="OMIM:133900"} xref: UMLS:C1399354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:141145", source="OMIM:133900"} is_a: MONDO:0019716 {source="Orphanet:141145"} ! overgrowth syndrome @@ -136159,9 +136130,9 @@ name: familial recurrent peripheral facial palsy subset: ordo_disease {source="Orphanet:2809"} synonym: "facial palsy, familial recurrent peripheral" RELATED [OMIM:134200] synonym: "familial recurrent Bell palsy" EXACT [Orphanet:2809] -xref: ICD10CM:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="ORDO:2809/attributed", source="ORDO:2809/ntbt"} +xref: ICD10CM:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="Orphanet:2809/attributed", source="Orphanet:2809/ntbt"} xref: MESH:C565028 {source="MONDO:equivalentTo"} -xref: OMIM:134200 {source="Orphanet:2809", source="ORDO:2809/e", source="MONDO:equivalentTo"} +xref: OMIM:134200 {source="Orphanet:2809", source="MONDO:equivalentTo", source="Orphanet:2809/e"} xref: Orphanet:2809 {source="MONDO:equivalentTo", source="OMIM:134200"} xref: UMLS:C1851399 {source="Orphanet:2809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134200"} is_a: MONDO:0020127 {source="Orphanet:2809"} ! genetic peripheral neuropathy @@ -136261,11 +136232,11 @@ synonym: "Fanconi renotubular syndrome 1" NARROW [MONDO:Lexical, OMIM:134600] synonym: "FRTS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:134600] synonym: "primary Fanconi renotubular syndrome" NARROW [Orphanet:3337] xref: GARD:0009118 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="ORDO:3337/ntbt", source="Orphanet:3337", source="ORDO:3337/inclusion"} +xref: ICD10CM:E72.0 {source="Orphanet:3337/inclusion", source="Orphanet:3337", source="Orphanet:3337/ntbt"} xref: NCIT:C123229 {source="MONDO:equivalentTo"} -xref: OMIM:134600 {source="ORDO:3337/e", source="MONDO:superClassOf", source="Orphanet:3337"} -xref: OMIM:613388 {source="MONDO:superClassOf", source="ORDO:3337/btnt", source="Orphanet:3337"} -xref: OMIM:615605 {source="MONDO:superClassOf", source="ORDO:3337/btnt", source="Orphanet:3337"} +xref: OMIM:134600 {source="MONDO:superClassOf", source="Orphanet:3337", source="Orphanet:3337/e"} +xref: OMIM:613388 {source="MONDO:superClassOf", source="Orphanet:3337", source="Orphanet:3337/btnt"} +xref: OMIM:615605 {source="MONDO:superClassOf", source="Orphanet:3337", source="Orphanet:3337/btnt"} xref: Orphanet:3337 {source="MONDO:superClassOf", source="OMIM:134600"} is_a: MONDO:0002254 {source="MONDO:0007600/inferred", source="NCIT:C123229", source="indirect"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -136317,17 +136288,17 @@ synonym: "splenomegaly-neutropenia-rheumatoid arthritis syndrome" EXACT [Orphane xref: DOID:11042 {source="EFO:0007269", source="MONDO:equivalentTo"} xref: EFO:0007269 {source="MONDO:equivalentTo"} xref: GARD:0008234 {source="MONDO:equivalentTo"} -xref: ICD10CM:M05.0 {source="Orphanet:47612", source="DOID:11042", source="ORDO:47612/ntbt"} +xref: ICD10CM:M05.0 {source="Orphanet:47612", source="Orphanet:47612/ntbt", source="DOID:11042"} xref: ICD10CM:M05.00 {source="DOID:11042"} xref: ICD9:714.1 {source="MONDO:equivalentTo", source="DOID:11042", source="i2s"} -xref: MedDRA:10016386 {source="Orphanet:47612", source="ORDO:47612/e"} -xref: MESH:D005258 {source="EFO:0007269", source="Orphanet:47612", source="MONDO:equivalentTo", source="DOID:11042", source="ORDO:47612/e"} +xref: MedDRA:10016386 {source="Orphanet:47612", source="Orphanet:47612/e"} +xref: MESH:D005258 {source="EFO:0007269", source="Orphanet:47612", source="MONDO:equivalentTo", source="Orphanet:47612/e", source="DOID:11042"} xref: NCIT:C84712 {source="MONDO:equivalentTo", source="DOID:11042"} -xref: OMIM:134750 {source="Orphanet:47612", source="MONDO:equivalentTo", source="DOID:11042", source="ORDO:47612/e"} +xref: OMIM:134750 {source="Orphanet:47612", source="MONDO:equivalentTo", source="Orphanet:47612/e", source="DOID:11042"} xref: Orphanet:47612 {source="MONDO:equivalentTo", source="OMIM:134750"} xref: SCTID:156482001 {source="DOID:11042"} xref: SCTID:57160007 {source="MONDO:equivalentTo", source="DOID:11042"} -xref: UMLS:C0015773 {source="Orphanet:47612", source="NCIT:C84712", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134750", source="DOID:11042", source="ORDO:47612/e"} +xref: UMLS:C0015773 {source="Orphanet:47612", source="NCIT:C84712", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:134750", source="Orphanet:47612/e", source="DOID:11042"} is_a: MONDO:0002254 {source="DOID:11042", source="NCIT:C84712"} ! syndromic disease is_a: MONDO:0005554 {source="MONDO:Redundant", source="Orphanet:47612"} ! rheumatic disorder is_a: MONDO:0008383 {source="EFO:0007269", source="MESH:D005258", source="linkedlifedata"} ! rheumatoid arthritis @@ -136351,13 +136322,13 @@ synonym: "femoral-facial syndrome" EXACT [MONDO:Lexical, OMIM:134780] synonym: "FFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:134780, Orphanet:1988] synonym: "FHUFS" EXACT ABBREVIATION [Orphanet:1988] xref: GARD:0000061 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1988/attributed", source="ORDO:1988/ntbt", source="Orphanet:1988"} +xref: ICD10CM:Q87.8 {source="Orphanet:1988/attributed", source="Orphanet:1988/ntbt", source="Orphanet:1988"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537916 {source="MONDO:equivalentTo", source="ORDO:1988/e", source="Orphanet:1988"} -xref: OMIM:134780 {source="MONDO:equivalentTo", source="ORDO:1988/e", source="Orphanet:1988"} +xref: MESH:C537916 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"} +xref: OMIM:134780 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"} xref: Orphanet:1988 {source="OMIM:134780", source="MONDO:equivalentTo"} xref: SCTID:13280000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265263 {source="NCBI:mim2gene_medline", source="OMIM:134780", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1988/e", source="Orphanet:1988"} +xref: UMLS:C0265263 {source="Orphanet:1988/e", source="NCBI:mim2gene_medline", source="OMIM:134780", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1988"} is_a: MONDO:0015161 {source="Orphanet:1988", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:1988"} ! orofacial clefting syndrome is_a: MONDO:0018234 ! dysostosis @@ -136390,18 +136361,18 @@ synonym: "Stone Man syndrome" EXACT [DOID:13374] synonym: "Stone man syndrome" EXACT [Orphanet:337] xref: DOID:13374 {source="MONDO:equivalentTo"} xref: GARD:0006445 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M61.1 {source="ORDO:337/e", source="Orphanet:337", source="ORDO:337/specific", source="DOID:13374"} +xref: ICD10CM:M61.1 {source="Orphanet:337", source="DOID:13374", source="Orphanet:337/e", source="Orphanet:337/specific"} xref: ICD10CM:M61.10 {source="DOID:13374"} xref: ICD9:728.11 {source="MONDO:equivalentTo", source="DOID:13374", source="i2s"} -xref: MedDRA:10068715 {source="ORDO:337/e", source="Orphanet:337"} -xref: MESH:D009221 {source="ORDO:337/e", source="Orphanet:337", source="MONDO:relatedTo", source="DOID:13374"} +xref: MedDRA:10068715 {source="Orphanet:337", source="Orphanet:337/e"} +xref: MESH:D009221 {source="Orphanet:337", source="MONDO:relatedTo", source="DOID:13374", source="Orphanet:337/e"} xref: NCIT:C3040 {source="MONDO:equivalentTo", source="DOID:13374"} -xref: OMIM:135100 {source="ORDO:337/e", source="Orphanet:337", source="MONDO:equivalentTo", source="DOID:13374"} +xref: OMIM:135100 {source="Orphanet:337", source="MONDO:equivalentTo", source="DOID:13374", source="Orphanet:337/e"} xref: Orphanet:337 {source="OMIM:135100", source="MONDO:equivalentTo"} xref: SCTID:205527009 {source="DOID:13374"} xref: SCTID:240121004 {source="DOID:13374"} xref: SCTID:82725007 {source="MONDO:equivalentTo", source="DOID:13374"} -xref: UMLS:C0016037 {source="NCIT:C3040", source="ORDO:337/e", source="Orphanet:337", source="OMIM:135100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13374"} +xref: UMLS:C0016037 {source="NCIT:C3040", source="Orphanet:337", source="OMIM:135100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13374", source="Orphanet:337/e"} is_a: MONDO:0003847 {source="NCIT:C3040", source="Orphanet:337/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0019296 {source="Orphanet:337"} ! subcutaneous tissue disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/171 {source="mim2gene_medgen"} ! ACVR1 @@ -136425,13 +136396,13 @@ xref: DOID:0050676 {source="MONDO:equivalentTo"} xref: EFO:1001273 {source="MONDO:equivalentTo"} xref: GARD:0002322 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10067736 {source="ORDO:122/e", source="Orphanet:122"} -xref: MESH:D058249 {source="MONDO:equivalentTo", source="ORDO:122/e", source="Orphanet:122"} +xref: MedDRA:10067736 {source="Orphanet:122/e", source="Orphanet:122"} +xref: MESH:D058249 {source="Orphanet:122/e", source="MONDO:equivalentTo", source="Orphanet:122"} xref: NCIT:C28244 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:135150 {source="DOID:0050676", source="MONDO:equivalentTo", source="ORDO:122/e", source="Orphanet:122"} +xref: OMIM:135150 {source="Orphanet:122/e", source="DOID:0050676", source="MONDO:equivalentTo", source="Orphanet:122"} xref: Orphanet:122 {source="OMIM:135150", source="MONDO:equivalentTo"} xref: SCTID:110985001 {source="MONDO:equivalentTo"} -xref: UMLS:C0346010 {source="OMIM:135150", source="NCIT:C28244", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:122/e", source="Orphanet:122"} +xref: UMLS:C0346010 {source="OMIM:135150", source="Orphanet:122/e", source="NCIT:C28244", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:122"} is_a: MONDO:0000426 {source="DOID:0050676", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D058249", source="MONDO:Redundant", source="NCIT:C28244", source="Orphanet:122/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 {source="Orphanet:122", source="indirect"} ! inherited skin tumor @@ -136462,10 +136433,10 @@ synonym: "fibromatosis, familial infiltrative" RELATED [OMIM:135290] synonym: "FIF" RELATED ABBREVIATION [GARD:0001820] xref: DOID:0080366 {source="MONDO:equivalentTo"} xref: GARD:0001820 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D48.1 {source="Orphanet:873", source="ORDO:873/ntbt"} +xref: ICD10CM:D48.1 {source="Orphanet:873", source="Orphanet:873/ntbt"} xref: ICDO:8821/1 {source="NCIT:C9182"} xref: NCIT:C9182 {source="MONDO:equivalentTo"} -xref: OMIM:135290 {source="MONDO:equivalentTo", source="ORDO:873/btnt"} +xref: OMIM:135290 {source="Orphanet:873/btnt", source="MONDO:equivalentTo"} xref: ONCOTREE:DES {source="MONDO:equivalentTo"} xref: Orphanet:873 {source="MONDO:equivalentTo"} xref: UMLS:C0079218 {source="MONDO:equivalentTo", source="NCIT:C9182"} @@ -136533,9 +136504,9 @@ synonym: "hypertrichosis, congenital generalized, with or without gingival hyper synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] xref: GARD:0002324 {source="MONDO:equivalentTo"} -xref: ICD10CM:L68.8 {source="Orphanet:2026", source="ORDO:2026/attributed", source="ORDO:2026/ntbt"} +xref: ICD10CM:L68.8 {source="Orphanet:2026/attributed", source="Orphanet:2026/ntbt", source="Orphanet:2026"} xref: MESH:C565016 {source="MONDO:equivalentTo"} -xref: OMIM:135400 {source="ORDO:2026/e", source="GARD:0002324", source="Orphanet:2026", source="MONDO:equivalentTo"} +xref: OMIM:135400 {source="GARD:0002324", source="Orphanet:2026", source="MONDO:equivalentTo", source="Orphanet:2026/e"} xref: Orphanet:2026 {source="GARD:0002324", source="MONDO:equivalentTo", source="OMIM:135400"} xref: SCTID:716008002 {source="MONDO:equivalentTo"} xref: UMLS:C1851120 {source="GARD:0002324", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:135400"} @@ -136563,12 +136534,12 @@ synonym: "gingival fibromatosis with progressive deafness" RELATED [GARD:0003056 synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [OMIM:135550] synonym: "Jones syndrome" EXACT [OMIM:135550, Orphanet:2027] xref: GARD:0003056 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H90.3 {source="Orphanet:2027", source="ORDO:2027/attributed", source="ORDO:2027/ntbt"} +xref: ICD10CM:H90.3 {source="Orphanet:2027/attributed", source="Orphanet:2027/ntbt", source="Orphanet:2027"} xref: MESH:C535886 {source="MONDO:equivalentTo"} -xref: OMIM:135550 {source="Orphanet:2027", source="ORDO:2027/e", source="MONDO:equivalentTo"} +xref: OMIM:135550 {source="Orphanet:2027", source="MONDO:equivalentTo", source="Orphanet:2027/e"} xref: Orphanet:2027 {source="OMIM:135550", source="MONDO:equivalentTo"} xref: SCTID:722449007 {source="MONDO:equivalentTo"} -xref: UMLS:C1851112 {source="Orphanet:2027", source="NCBI:mim2gene_medline", source="OMIM:135550", source="ORDO:2027/e", source="MONDO:equivalentTo"} +xref: UMLS:C1851112 {source="Orphanet:2027", source="NCBI:mim2gene_medline", source="OMIM:135550", source="MONDO:equivalentTo", source="Orphanet:2027/e"} is_a: MONDO:0019589 {source="Orphanet:2027"} ! syndromic genetic hearing loss is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2027", source="Orphanet:2027/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -136598,14 +136569,14 @@ synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700] synonym: "Tukel syndrome" NARROW [DOID:0080143] xref: DOID:0080143 {source="MONDO:equivalentTo"} xref: GARD:0012590 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H49.8 {source="Orphanet:45358", source="ORDO:45358/attributed", source="ORDO:45358/ntbt"} +xref: ICD10CM:H49.8 {source="Orphanet:45358", source="Orphanet:45358/attributed", source="Orphanet:45358/ntbt"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:135700 {source="Orphanet:45358", source="DOID:0080143", source="MONDO:superClassOf", source="ORDO:45358/e"} -xref: OMIM:600638 {source="Orphanet:45358", source="DOID:0080143", source="MONDO:superClassOf", source="ORDO:45358/btnt"} -xref: OMIM:602078 {source="Orphanet:45358", source="DOID:0080143", source="MONDO:superClassOf", source="ORDO:45358/btnt"} -xref: OMIM:609384 {source="Orphanet:45358", source="DOID:0080143", source="MONDO:superClassOf", source="ORDO:45358/btnt"} -xref: OMIM:609428 {source="Orphanet:45358", source="DOID:0080143", source="MONDO:superClassOf", source="ORDO:45358/btnt"} -xref: OMIM:609612 {source="Orphanet:45358", source="MONDO:superClassOf", source="ORDO:45358/btnt"} +xref: OMIM:135700 {source="Orphanet:45358", source="DOID:0080143", source="Orphanet:45358/e", source="MONDO:superClassOf"} +xref: OMIM:600638 {source="Orphanet:45358", source="DOID:0080143", source="Orphanet:45358/btnt", source="MONDO:superClassOf"} +xref: OMIM:602078 {source="Orphanet:45358", source="DOID:0080143", source="Orphanet:45358/btnt", source="MONDO:superClassOf"} +xref: OMIM:609384 {source="Orphanet:45358", source="DOID:0080143", source="Orphanet:45358/btnt", source="MONDO:superClassOf"} +xref: OMIM:609428 {source="Orphanet:45358", source="DOID:0080143", source="Orphanet:45358/btnt", source="MONDO:superClassOf"} +xref: OMIM:609612 {source="Orphanet:45358", source="Orphanet:45358/btnt", source="MONDO:superClassOf"} xref: OMIM:616219 {source="DOID:0080143", source="MONDO:superClassOf"} xref: OMIMPS:135700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:equivalentTo", source="OMIM:135700"} @@ -136641,12 +136612,12 @@ synonym: "Sandrow syndrome" EXACT [OMIM:135750, Orphanet:2378] synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750] xref: DOID:0111350 {source="MONDO:equivalentTo"} xref: GARD:0000155 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:2378", source="ORDO:2378/attributed", source="ORDO:2378/ntbt"} -xref: MESH:C535689 {source="ORDO:2378/e", source="Orphanet:2378", source="MONDO:equivalentTo"} -xref: OMIM:135750 {source="ORDO:2378/e", source="Orphanet:2378", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:2378/attributed", source="Orphanet:2378/ntbt", source="Orphanet:2378"} +xref: MESH:C535689 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} +xref: OMIM:135750 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} xref: Orphanet:2378 {source="MONDO:equivalentTo", source="OMIM:135750"} xref: SCTID:715440003 {source="MONDO:equivalentTo"} -xref: UMLS:C1851100 {source="ORDO:2378/e", source="NCBI:mim2gene_medline", source="Orphanet:2378", source="MONDO:notFoundInDiseaseSubset", source="OMIM:135750"} +xref: UMLS:C1851100 {source="NCBI:mim2gene_medline", source="Orphanet:2378", source="MONDO:notFoundInDiseaseSubset", source="OMIM:135750", source="Orphanet:2378/e"} xref: UMLS:C1851101 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:135750"} is_a: MONDO:0019054 {source="Orphanet:2378"} ! congenital limb malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13243 {source="mim2gene_medgen"} ! LMBR1 @@ -136692,7 +136663,7 @@ xref: UMLS:C0265338 {source="MONDO:subClassOf", source="OMIM:135900"} xref: UMLS:C1864967 {source="OMIM:609943", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} xref: UMLS:C3281201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614562"} xref: UMLS:CN029606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -is_a: MONDO:0015452 {source="DC-OMIM:135900", source="OMIM:135900", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:135900", source="OMIM:135900", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18040 {source="mim2gene_medgen"} ! ARID1B relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070042"} ! autosomal dominant non-syndromic intellectual disability @@ -136707,11 +136678,11 @@ def: "Eng-Strom syndrome is characterised by intrauterine growth retardation and subset: ordo_malformation_syndrome {source="Orphanet:1937"} synonym: "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" RELATED [OMIM:135950] synonym: "short stature-locking fingers syndrome" EXACT [Orphanet:1937] -xref: ICD10CM:Q87.1 {source="ORDO:1937/attributed", source="ORDO:1937/ntbt", source="Orphanet:1937"} -xref: OMIM:135950 {source="MONDO:equivalentTo", source="ORDO:1937/e", source="Orphanet:1937"} +xref: ICD10CM:Q87.1 {source="Orphanet:1937/attributed", source="Orphanet:1937/ntbt", source="Orphanet:1937"} +xref: OMIM:135950 {source="Orphanet:1937/e", source="MONDO:equivalentTo", source="Orphanet:1937"} xref: Orphanet:1937 {source="MONDO:equivalentTo", source="OMIM:135950"} xref: UMLS:C1851081 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:135950"} -xref: UMLS:C2931545 {source="MONDO:equivalentTo", source="ORDO:1937/e", source="Orphanet:1937"} +xref: UMLS:C2931545 {source="Orphanet:1937/e", source="MONDO:equivalentTo", source="Orphanet:1937"} is_a: MONDO:0021147 {source="Orphanet:1937", source="Orphanet:1937/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: confidence "8.333333333333334" xsd:double @@ -136731,9 +136702,9 @@ synonym: "immigration delay disease" EXACT [DOID:0111357, Orphanet:289465] synonym: "isolated congenital adermatoglyphia" EXACT [DOID:0111357] xref: DOID:0111357 {source="MONDO:equivalentTo"} xref: GARD:0012550 {source="MONDO:equivalentTo", source="Orphanet-shared", source="DOID:0111357", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:289465", source="ORDO:289465/attributed", source="ORDO:289465/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:289465/attributed", source="Orphanet:289465/ntbt", source="Orphanet:289465"} xref: MESH:C565010 {source="MONDO:equivalentTo"} -xref: OMIM:136000 {source="ORDO:289465/e", source="Orphanet:289465", source="MONDO:equivalentTo", source="DOID:0111357"} +xref: OMIM:136000 {source="Orphanet:289465", source="MONDO:equivalentTo", source="Orphanet:289465/e", source="DOID:0111357"} xref: Orphanet:289465 {source="OMIM:136000", source="MONDO:equivalentTo", source="DOID:0111357"} xref: SCTID:763748007 {source="MONDO:equivalentTo"} xref: UMLS:C1851080 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -136760,13 +136731,13 @@ synonym: "fish-eye disease" RELATED [OMIM:136120] synonym: "LCATA deficiency" RELATED [OMIM:136120] synonym: "partial LCAT deficiency" EXACT [Orphanet:79292] xref: GARD:0006450 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.6 {source="Orphanet:79292", source="ORDO:79292/attributed", source="ORDO:79292/ntbt"} -xref: MESH:C538467 {source="ORDO:79292/e", source="Orphanet:79292"} -xref: OMIM:136120 {source="ORDO:79292/e", source="Orphanet:79292", source="MONDO:equivalentTo"} +xref: ICD10CM:E78.6 {source="Orphanet:79292/attributed", source="Orphanet:79292/ntbt", source="Orphanet:79292"} +xref: MESH:C538467 {source="Orphanet:79292", source="Orphanet:79292/e"} +xref: OMIM:136120 {source="Orphanet:79292", source="MONDO:equivalentTo", source="Orphanet:79292/e"} xref: Orphanet:650 {source="MONDO:subClassOf", source="OMIM:136120"} xref: Orphanet:79292 {source="OMIM:136120", source="MONDO:equivalentTo"} xref: SCTID:238092004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342895 {source="OMIM:136120", source="ORDO:79292/e", source="Orphanet:79292", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0342895 {source="OMIM:136120", source="Orphanet:79292", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79292/e"} is_a: MONDO:0018999 {source="Orphanet:79292"} ! LCAT deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6522 {source="mim2gene_medgen"} ! LCAT property_value: confidence "5.250000000000002" xsd:double @@ -136786,13 +136757,13 @@ synonym: "Pelletier-Leisti syndrome" RELATED [GARD:0006455] synonym: "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" RELATED [GARD:0006455] xref: DOID:0111358 {source="MONDO:equivalentTo"} xref: GARD:0006455 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2044", source="ORDO:2044/attributed", source="ORDO:2044/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2044", source="Orphanet:2044/attributed", source="Orphanet:2044/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="ORDO:2044/e"} -xref: OMIM:136140 {source="Orphanet:2044", source="MONDO:equivalentTo", source="ORDO:2044/e"} +xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"} +xref: OMIM:136140 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"} xref: Orphanet:2044 {source="OMIM:136140", source="MONDO:equivalentTo"} xref: SCTID:312214005 {source="MONDO:equivalentTo"} -xref: UMLS:C0729582 {source="OMIM:136140", source="Orphanet:2044", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2044/e"} +xref: UMLS:C0729582 {source="OMIM:136140", source="Orphanet:2044", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2044/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2044", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16974 {source="mim2gene_medgen"} ! SRCAP @@ -136830,12 +136801,12 @@ synonym: "cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, p synonym: "Flynn Aird syndrome" RELATED [GARD:0002347] synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300] xref: GARD:0002347 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2047", source="ORDO:2047/attributed", source="ORDO:2047/ntbt"} -xref: MESH:C537066 {source="Orphanet:2047", source="ORDO:2047/e", source="MONDO:equivalentTo"} -xref: OMIM:136300 {source="Orphanet:2047", source="ORDO:2047/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2047", source="Orphanet:2047/attributed", source="Orphanet:2047/ntbt"} +xref: MESH:C537066 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"} +xref: OMIM:136300 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"} xref: Orphanet:2047 {source="MONDO:equivalentTo", source="OMIM:136300"} xref: SCTID:239056006 {source="MONDO:equivalentTo"} -xref: UMLS:C0343108 {source="Orphanet:2047", source="ORDO:2047/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136300"} +xref: UMLS:C0343108 {source="Orphanet:2047", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:136300", source="Orphanet:2047/e"} is_a: MONDO:0000426 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal dominant disease is_a: MONDO:0019303 {source="Orphanet:2047"} ! premature aging syndrome relationship: excluded_subClassOf MONDO:0019117 {source="Orphanet:2047"} ! genetic nervous system disorder @@ -136863,9 +136834,9 @@ synonym: "strabismus from Superior oblique palsy" RELATED [OMIM:136480] synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [OMIM:136480] synonym: "trochlear nerve palsy, familial congenital" RELATED [OMIM:136480] xref: GARD:0010355 {source="MONDO:equivalentTo"} -xref: ICD10CM:H49.1 {source="ORDO:91498/attributed", source="ORDO:91498/ntbt", source="Orphanet:91498"} +xref: ICD10CM:H49.1 {source="Orphanet:91498", source="Orphanet:91498/attributed", source="Orphanet:91498/ntbt"} xref: MESH:C565007 {source="MONDO:equivalentTo"} -xref: OMIM:136480 {source="ORDO:91498/e", source="MONDO:equivalentTo", source="Orphanet:91498"} +xref: OMIM:136480 {source="MONDO:equivalentTo", source="Orphanet:91498", source="Orphanet:91498/e"} xref: Orphanet:91498 {source="MONDO:equivalentTo", source="OMIM:136480"} xref: UMLS:C1850996 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91498", source="OMIM:136480"} is_a: MONDO:0015083 {source="Orphanet:91498", source="Orphanet:91498/inferred"} ! nuclear oculomotor paralysis @@ -136891,16 +136862,16 @@ synonym: "focal facial dermal dysplasia 1, Brauer type" EXACT [MONDO:Lexical, OM synonym: "focal facial dermal dysplasia type 1" EXACT [Orphanet:79133] synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [OMIM:136500] xref: GARD:0008416 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:79133/attributed", source="ORDO:79133/ntbt", source="Orphanet:79133"} -xref: MESH:C536385 {source="ORDO:79133/e", source="Orphanet:79133"} -xref: MESH:C537068 {source="ORDO:79133/e", source="Orphanet:79133"} -xref: OMIM:136500 {source="MONDO:equivalentTo", source="ORDO:79133/e", source="Orphanet:79133"} +xref: ICD10CM:Q82.8 {source="Orphanet:79133", source="Orphanet:79133/attributed", source="Orphanet:79133/ntbt"} +xref: MESH:C536385 {source="Orphanet:79133/e", source="Orphanet:79133"} +xref: MESH:C537068 {source="Orphanet:79133/e", source="Orphanet:79133"} +xref: OMIM:136500 {source="Orphanet:79133/e", source="MONDO:equivalentTo", source="Orphanet:79133"} xref: Orphanet:398166 {source="MONDO:subClassOf", source="OMIM:136500"} xref: Orphanet:79133 {source="MONDO:equivalentTo", source="OMIM:136500"} -xref: UMLS:C1744559 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79133/e", source="Orphanet:79133"} -xref: UMLS:C2936827 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:136500", source="ORDO:79133/e", source="Orphanet:79133"} +xref: UMLS:C1744559 {source="Orphanet:79133/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79133"} +xref: UMLS:C2936827 {source="Orphanet:79133/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:136500", source="Orphanet:79133"} xref: UMLS:CN776929 {source="MONDO:equivalentTo"} -is_a: MONDO:0018363 {source="OMIM:136500", source="ORDO:398166/btnt", source="Orphanet:79133"} ! focal facial dermal dysplasia +is_a: MONDO:0018363 {source="OMIM:136500", source="Orphanet:398166/btnt", source="Orphanet:79133"} ! focal facial dermal dysplasia property_value: confidence "0.440329218106996" xsd:double [Term] @@ -136961,12 +136932,12 @@ synonym: "progressive foveal dystrophy" EXACT [Orphanet:75327] synonym: "retinal pigment epithelial dystrophy central" RELATED [GARD:0009179] synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550] xref: GARD:0009179 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="ORDO:75327/attributed", source="ORDO:75327/ntbt"} -xref: MESH:C537835 {source="ORDO:75327/e", source="MONDO:equivalentTo", source="Orphanet:75327"} -xref: OMIM:136550 {source="ORDO:75327/e", source="MONDO:equivalentTo", source="Orphanet:75327"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="Orphanet:75327/attributed", source="Orphanet:75327/ntbt"} +xref: MESH:C537835 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} +xref: OMIM:136550 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"} xref: SCTID:312925009 {source="MONDO:equivalentTo"} -xref: UMLS:C0730294 {source="OMIM:136550", source="ORDO:75327/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:75327"} +xref: UMLS:C0730294 {source="OMIM:136550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "3.7222222222222223" xsd:double @@ -137039,14 +137010,14 @@ synonym: "Frasier syndrome" EXACT [OMIM:136680] synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:136680, OMIM:genemap2] xref: DOID:0050438 {source="MONDO:equivalentTo"} xref: GARD:0002375 {source="MONDO:equivalentTo"} -xref: ICD10CM:N04.1 {source="Orphanet:347", source="ORDO:347/attributed", source="ORDO:347/ntbt"} +xref: ICD10CM:N04.1 {source="Orphanet:347/attributed", source="Orphanet:347/ntbt", source="Orphanet:347"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="ORDO:347/e"} +xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} xref: NCIT:C122805 {source="MONDO:equivalentTo", source="DOID:0050438"} -xref: OMIM:136680 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="ORDO:347/e"} +xref: OMIM:136680 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} xref: Orphanet:347 {source="OMIM:136680", source="MONDO:equivalentTo"} xref: SCTID:445431000 {source="MONDO:equivalentTo", source="DOID:0050438"} -xref: UMLS:C0950122 {source="OMIM:136680", source="Orphanet:347", source="NCBI:mim2gene_medline", source="NCIT:C122805", source="MONDO:equivalentTo", source="DOID:0050438", source="ORDO:347/e"} +xref: UMLS:C0950122 {source="OMIM:136680", source="Orphanet:347", source="NCBI:mim2gene_medline", source="NCIT:C122805", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} is_a: MONDO:0000426 {source="DOID:0050438", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122805", source="indirect"} ! syndromic disease is_a: MONDO:0005151 ! endocrine system disorder @@ -137077,9 +137048,9 @@ synonym: "isolated median cleft face syndrome" EXACT [Orphanet:391474] synonym: "isolated median cleft syndrome" RELATED [GARD:0012642] synonym: "median Facial cleft syndrome" RELATED [OMIM:136760] xref: GARD:0012642 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:391474/attributed", source="ORDO:391474/ntbt", source="Orphanet:391474"} +xref: ICD10CM:Q75.8 {source="Orphanet:391474", source="Orphanet:391474/attributed", source="Orphanet:391474/ntbt"} xref: NCIT:C129028 {source="MONDO:equivalentTo"} -xref: OMIM:136760 {source="MONDO:equivalentTo", source="ORDO:391474/e", source="Orphanet:391474"} +xref: OMIM:136760 {source="MONDO:equivalentTo", source="Orphanet:391474", source="Orphanet:391474/e"} xref: Orphanet:391474 {source="OMIM:136760", source="MONDO:equivalentTo"} xref: UMLS:C1876203 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:136760"} is_a: MONDO:0015412 {source="Orphanet:391474"} ! median facial cleft @@ -137126,12 +137097,12 @@ synonym: "fundus albipunctatus" EXACT [OMIM:136880] synonym: "pigmentary retinal dystrophy" EXACT [DOID:11105, ICD9CM:362.74] synonym: "retinitis punctata albescens" EXACT [DOID:11105, OMIM:136880] xref: DOID:11105 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:227796/attributed", source="ORDO:227796/ntbt", source="Orphanet:227796"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:227796/attributed", source="Orphanet:227796/ntbt", source="Orphanet:227796"} xref: ICD10CM:H35.52 {source="DOID:11105"} xref: ICD9:362.74 {source="DOID:11105", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:362.76 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:C562733 {source="DOID:11105", source="MONDO:equivalentTo"} -xref: OMIM:136880 {source="DOID:11105", source="MONDO:equivalentTo", source="Orphanet:227796", source="ORDO:227796/e"} +xref: OMIM:136880 {source="DOID:11105", source="Orphanet:227796/e", source="MONDO:equivalentTo", source="Orphanet:227796"} xref: Orphanet:227796 {source="OMIM:136880", source="MONDO:equivalentTo"} xref: Orphanet:52427 {source="OMIM:136880", source="MONDO:superClassOf"} xref: SCTID:68222009 {source="DOID:11105", source="MONDO:equivalentTo"} @@ -137158,13 +137129,13 @@ synonym: "Sorsby's fundus dystrophy" EXACT [DOID:0090114] synonym: "Sorsby's pseudoinflammatory macular dystrophy" RELATED [GARD:0010511] xref: DOID:0090114 {source="MONDO:equivalentTo"} xref: GARD:0010511 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="MONDO:subClassOf", source="Orphanet:59181", source="ORDO:59181/attributed", source="ORDO:59181/ntbt"} +xref: ICD10CM:H35.5 {source="MONDO:subClassOf", source="Orphanet:59181/attributed", source="Orphanet:59181/ntbt", source="Orphanet:59181"} xref: MESH:C564992 {source="MONDO:equivalentTo"} -xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="ORDO:59181/e"} -xref: OMIM:264420 {source="Orphanet:59181", source="MONDO:superClassOf", source="ORDO:59181/btnt"} +xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="Orphanet:59181/e"} +xref: OMIM:264420 {source="Orphanet:59181/btnt", source="Orphanet:59181", source="MONDO:superClassOf"} xref: Orphanet:59181 {source="MONDO:equivalentTo", source="OMIM:136900"} xref: SCTID:193410003 {source="MONDO:equivalentTo"} -xref: UMLS:C0339515 {source="Orphanet:59181", source="MONDO:notFoundInDiseaseSubset", source="ORDO:59181/e"} +xref: UMLS:C0339515 {source="Orphanet:59181", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:59181/e"} xref: UMLS:C1850938 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:136900"} is_a: MONDO:0019118 {source="DOID:0090114", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11822 {source="mim2gene_medgen"} ! TIMP3 @@ -137187,7 +137158,7 @@ id: MONDO:0007642 name: isolated agenesis of gallbladder subset: ordo_morphological_anomaly {source="Orphanet:440987"} synonym: "gallbladder, agenesis OF" RELATED [OMIM:137040] -xref: ICD10CM:Q44.0 {source="ORDO:440987/ntbt", source="Orphanet:440987"} +xref: ICD10CM:Q44.0 {source="Orphanet:440987/ntbt", source="Orphanet:440987"} xref: MESH:C562564 {source="MONDO:equivalentTo"} xref: OMIM:137040 {source="MONDO:equivalentTo"} xref: Orphanet:440987 {source="MONDO:equivalentTo"} @@ -137258,8 +137229,8 @@ synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MON synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137200] xref: DOID:0050526 {source="MONDO:equivalentTo"} xref: GARD:0012353 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:324442/attributed", source="ORDO:324442/ntbt", source="Orphanet:324442"} -xref: OMIM:137200 {source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442", source="ORDO:324442/e"} +xref: ICD10CM:G60.0 {source="Orphanet:324442/attributed", source="Orphanet:324442/ntbt", source="Orphanet:324442"} +xref: OMIM:137200 {source="Orphanet:324442/e", source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442"} xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"} xref: SCTID:711406009 {source="MONDO:equivalentTo"} xref: UMLS:C0242287 {source="OMIM:137200", source="MONDO:notFoundInDiseaseSubset"} @@ -137305,9 +137276,9 @@ synonym: "signet ring gastric carcinoma" RELATED [GARD:0010334] xref: DOID:0080763 {source="MONDO:equivalentTo"} xref: GARD:0010334 {source="shared-umls-xref", source="DOID:0080763", source="MONDO:equivalentTo"} xref: GARD:0010900 {source="MONDO:equivalentTo"} -xref: ICD10CM:C16.9 {source="ORDO:26106/nd", source="ORDO:26106/attributed", source="Orphanet:26106"} +xref: ICD10CM:C16.9 {source="Orphanet:26106/nd", source="Orphanet:26106/attributed", source="Orphanet:26106"} xref: NCIT:C43295 {source="MONDO:equivalentTo"} -xref: OMIM:137215 {source="MONDO:equivalentTo", source="ORDO:26106/e", source="Orphanet:26106"} +xref: OMIM:137215 {source="Orphanet:26106/e", source="MONDO:equivalentTo", source="Orphanet:26106"} xref: Orphanet:26106 {source="MONDO:equivalentTo", source="OMIM:137215"} xref: SCTID:716859000 {source="MONDO:equivalentTo"} xref: UMLS:C1708349 {source="NCIT:C43295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137215", source="Orphanet:26106"} @@ -137356,12 +137327,12 @@ synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [DOID:0050909, MONDO xref: DOID:0050909 {source="MONDO:equivalentTo", source="EFO:0000191"} xref: EFO:0000191 {source="MONDO:equivalentTo"} xref: GARD:0006485 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:C88.4 {source="ORDO:52417/e", source="Orphanet:52417"} +xref: ICD10CM:C88.4 {source="Orphanet:52417", source="Orphanet:52417/e"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9699/3 {source="NCIT:C3898"} -xref: MedDRA:10060707 {source="ORDO:52417/e", source="Orphanet:52417"} +xref: MedDRA:10060707 {source="Orphanet:52417", source="Orphanet:52417/e"} xref: NCIT:C3898 {source="MONDO:equivalentTo", source="EFO:0000191"} -xref: OMIM:137245 {source="MONDO:equivalentTo", source="ORDO:52417/e", source="Orphanet:52417"} +xref: OMIM:137245 {source="MONDO:equivalentTo", source="Orphanet:52417", source="Orphanet:52417/e"} xref: ONCOTREE:EMALT {source="MONDO:equivalentTo"} xref: Orphanet:52417 {source="MONDO:equivalentTo"} xref: SCTID:277622004 {source="MONDO:equivalentTo"} @@ -137383,10 +137354,10 @@ subset: ordo_disease {source="Orphanet:2069"} synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270] synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270] xref: GARD:0002438 {source="MONDO:equivalentTo"} -xref: MESH:C535651 {source="Orphanet:2069", source="ORDO:2069/e", source="MONDO:equivalentTo"} -xref: OMIM:137270 {source="Orphanet:2069", source="ORDO:2069/e", source="MONDO:equivalentTo"} +xref: MESH:C535651 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} +xref: OMIM:137270 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: Orphanet:2069 {source="MONDO:equivalentTo", source="OMIM:137270"} -xref: UMLS:C1850899 {source="Orphanet:2069", source="ORDO:2069/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137270"} +xref: UMLS:C1850899 {source="Orphanet:2069", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2069/e", source="OMIM:137270"} is_a: MONDO:0019289 {source="Orphanet:2069"} ! hyperpigmentation of the skin property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome xsd:anyURI {source="GARD:0002438"} @@ -137413,20 +137384,20 @@ synonym: "Ménétrier disease" EXACT [NCIT:C67277] xref: DOID:8757 {source="MONDO:equivalentTo", source="EFO:1000946"} xref: EFO:1000946 {source="MONDO:equivalentTo"} xref: GARD:0002436 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K29.6 {source="DOID:8757", source="ORDO:2494/ntbt", source="Orphanet:2494"} +xref: ICD10CM:K29.6 {source="DOID:8757", source="Orphanet:2494/ntbt", source="Orphanet:2494"} xref: ICD9:535.2 {source="DOID:8757", source="EFO:1000946"} xref: ICD9:535.20 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:535.21 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10017807 {source="EFO:1000946", source="Orphanet:2494", source="ORDO:2494/e"} -xref: MedDRA:10017868 {source="Orphanet:2494", source="ORDO:2494/e"} +xref: MedDRA:10017807 {source="Orphanet:2494/e", source="EFO:1000946", source="Orphanet:2494"} +xref: MedDRA:10017868 {source="Orphanet:2494/e", source="Orphanet:2494"} xref: MESH:D005758 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"} xref: NCIT:C67277 {source="DOID:8757", source="MONDO:equivalentTo"} -xref: OMIM:137280 {source="DOID:8757", source="MONDO:equivalentTo", source="Orphanet:2494", source="ORDO:2494/e"} +xref: OMIM:137280 {source="Orphanet:2494/e", source="DOID:8757", source="MONDO:equivalentTo", source="Orphanet:2494"} xref: Orphanet:2494 {source="MONDO:equivalentTo", source="OMIM:137280"} xref: SCTID:235665008 {source="DOID:8757"} xref: SCTID:413219009 {source="DOID:8757"} xref: SCTID:60002000 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"} -xref: UMLS:C0017155 {source="DOID:8757", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C67277", source="Orphanet:2494", source="ORDO:2494/e"} +xref: UMLS:C0017155 {source="Orphanet:2494/e", source="DOID:8757", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C67277", source="Orphanet:2494"} xref: UMLS:C2936660 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:137280", source="Orphanet:2494"} is_a: MONDO:0003847 ! Mendelian disease is_a: MONDO:0004966 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="NCIT:C67277", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis @@ -137518,17 +137489,17 @@ synonym: "prion dementia" EXACT [DOID:4249, OMIM:137440] synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [Orphanet:356] xref: DOID:4249 {source="MONDO:equivalentTo"} xref: GARD:0007690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:A81.8 {source="Orphanet:356", source="ORDO:356/attributed", source="ORDO:356/ntbt"} +xref: ICD10CM:A81.8 {source="Orphanet:356", source="Orphanet:356/attributed", source="Orphanet:356/ntbt"} xref: ICD10CM:A81.82 {source="MONDO:equivalentTo", source="DOID:4249"} xref: ICD9:046.71 {source="DOID:4249"} -xref: MedDRA:10072075 {source="Orphanet:356", source="ORDO:356/e"} +xref: MedDRA:10072075 {source="Orphanet:356", source="Orphanet:356/e"} xref: MESH:C535800 {source="MONDO:equivalentTo"} -xref: MESH:D016098 {source="Orphanet:356", source="DOID:4249", source="ORDO:356/e"} +xref: MESH:D016098 {source="Orphanet:356", source="DOID:4249", source="Orphanet:356/e"} xref: NCIT:C84727 {source="MONDO:equivalentTo", source="DOID:4249"} -xref: OMIM:137440 {source="Orphanet:356", source="MONDO:equivalentTo", source="DOID:4249", source="ORDO:356/e"} +xref: OMIM:137440 {source="Orphanet:356", source="MONDO:equivalentTo", source="DOID:4249", source="Orphanet:356/e"} xref: Orphanet:356 {source="OMIM:137440", source="MONDO:equivalentTo"} xref: SCTID:67155006 {source="MONDO:equivalentTo", source="DOID:4249"} -xref: UMLS:C0017495 {source="Orphanet:356", source="OMIM:137440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4249", source="NCIT:C84727", source="ORDO:356/e"} +xref: UMLS:C0017495 {source="Orphanet:356", source="OMIM:137440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4249", source="NCIT:C84727", source="Orphanet:356/e"} xref: UMLS:C3805618 {source="OMIM:137440", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005429 {source="DOID:4249", source="MESH:C535800", source="MESH:D016098", source="MONDO:Redundant", source="indirect"} ! prion disease is_a: MONDO:0017234 {source="Orphanet:356"} ! inherited prion disease @@ -137573,9 +137544,9 @@ synonym: "intracortical fibrous dysplasia" RELATED [GARD:0010887] synonym: "Jaffe-Campanacci syndrome" RELATED [GARD:0010887] synonym: "multiple ossifying fibroma" EXACT [Orphanet:435329] xref: GARD:0010887 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D16.4 {source="ORDO:435329/attributed", source="ORDO:435329/ntbt", source="Orphanet:435329"} +xref: ICD10CM:D16.4 {source="Orphanet:435329", source="Orphanet:435329/attributed", source="Orphanet:435329/ntbt"} xref: MESH:C563017 {source="MONDO:equivalentTo"} -xref: OMIM:137575 {source="ORDO:435329/e", source="MONDO:equivalentTo", source="Orphanet:435329"} +xref: OMIM:137575 {source="MONDO:equivalentTo", source="Orphanet:435329", source="Orphanet:435329/e"} xref: Orphanet:435329 {source="MONDO:equivalentTo"} xref: UMLS:C0555197 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline"} xref: UMLS:C3495361 {source="OMIM:137575", source="MONDO:notFoundInDiseaseSubset"} @@ -137645,7 +137616,7 @@ xref: OMIM:137600 {source="MONDO:equivalentTo"} xref: Orphanet:91483 {source="MONDO:subClassOf", source="OMIM:137600"} xref: UMLS:C1842031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137600"} is_a: MONDO:0019503 {source="MONDO:Redundant", source="OMIM:137600"} ! anterior segment dysgenesis -is_a: MONDO:0019628 {source="ORDO:91483/btnt"} ! Rieger anomaly +is_a: MONDO:0019628 {source="Orphanet:91483/btnt"} ! Rieger anomaly intersection_of: MONDO:0011119 ! iridogoniodysgenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9005 ! PITX2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9005 {source="mim2gene_medgen"} ! PITX2 @@ -137685,7 +137656,7 @@ xref: OMIM:137750 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="MONDO:subClassOf", source="OMIM:137750"} xref: UMLS:C1825363 {source="OMIM:137750", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1842028 {source="NCBI:mim2gene_medline", source="OMIM:137750", source="MONDO:equivalentTo"} -is_a: MONDO:0020367 {source="MONDO:Redundant", source="ORDO:98977/btnt"} ! juvenile open angle glaucoma +is_a: MONDO:0020367 {source="MONDO:Redundant", source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma intersection_of: MONDO:0020367 ! juvenile open angle glaucoma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7610 ! MYOC relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7610 {source="mim2gene_medgen"} ! MYOC @@ -137727,7 +137698,7 @@ synonym: "glaucoma and sleep apnea" RELATED [OMIM:137763] synonym: "glaucoma sleep apnea" RELATED [GARD:0002483] xref: GARD:0002483 {source="MONDO:equivalentTo"} xref: MESH:C564232 {source="MONDO:equivalentTo"} -xref: OMIM:137763 {source="MONDO:equivalentTo", source="Orphanet:2085", source="ORDO:2085/e", source="GARD:0002483"} +xref: OMIM:137763 {source="Orphanet:2085/e", source="MONDO:equivalentTo", source="Orphanet:2085", source="GARD:0002483"} xref: Orphanet:2085 {source="MONDO:equivalentTo", source="OMIM:137763", source="GARD:0002483"} xref: UMLS:C1842025 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137763", source="Orphanet:2085", source="GARD:0002483"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease @@ -137753,7 +137724,7 @@ xref: DOID:4843 {source="EFO:1001197", source="MONDO:equivalentTo"} xref: EFO:1000553 {source="MONDO:equivalentTo"} xref: EFO:1001197 {source="MONDO:equivalentTo"} xref: GARD:0010070 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D43.2 {source="Orphanet:251639", source="ORDO:251639/ntbt"} +xref: ICD10CM:D43.2 {source="Orphanet:251639", source="Orphanet:251639/ntbt"} xref: ICDO:9383/1 {source="NCIT:C3795"} xref: MESH:D018315 {source="EFO:1001197", source="MONDO:equivalentTo", source="DOID:4843"} xref: NCIT:C3795 {source="EFO:1000553", source="MONDO:equivalentTo", source="DOID:4843"} @@ -137762,7 +137733,7 @@ xref: ONCOTREE:SUBE {source="MONDO:equivalentTo"} xref: Orphanet:251639 {source="MONDO:equivalentTo"} xref: SCTID:189910001 {source="DOID:4843"} xref: SCTID:4553004 {source="EFO:1001197", source="DOID:4843"} -xref: UMLS:C0206725 {source="Orphanet:251639", source="MONDO:equivalentTo", source="DOID:4843", source="NCIT:C3795", source="ORDO:251639/e"} +xref: UMLS:C0206725 {source="Orphanet:251639", source="MONDO:equivalentTo", source="DOID:4843", source="Orphanet:251639/e", source="NCIT:C3795"} is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3795", source="ONCOTREE:SUBE", source="Orphanet:251639/inferred"} ! ependymal tumor is_a: MONDO:0016697 {source="Orphanet:251639"} ! low grade ependymoma property_value: confidence "0.6200000000000001" xsd:double @@ -137808,15 +137779,15 @@ synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [Orph synonym: "renal dysfunction-early-onset diabetes syndrome" EXACT [Orphanet:93111] xref: DOID:0111101 {source="MONDO:equivalentTo"} xref: GARD:0010221 {source="MONDO:equivalentTo"} -xref: ICD10CM:E11.2 {source="Orphanet:93111", source="ORDO:93111/attributed", source="ORDO:93111/ntbt"} -xref: MESH:C535520 {source="ORDO:93111/e", source="Orphanet:93111", source="MONDO:equivalentTo"} +xref: ICD10CM:E11.2 {source="Orphanet:93111", source="Orphanet:93111/attributed", source="Orphanet:93111/ntbt"} +xref: MESH:C535520 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e"} xref: NCIT:C123018 {source="MONDO:equivalentTo"} -xref: OMIM:137920 {source="ORDO:93111/e", source="Orphanet:93111", source="MONDO:equivalentTo", source="DOID:0111101"} -xref: OMIM:616026 {source="Orphanet:93111", source="MONDO:superClassOf", source="ORDO:93111/btnt"} +xref: OMIM:137920 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e", source="DOID:0111101"} +xref: OMIM:616026 {source="Orphanet:93111", source="Orphanet:93111/btnt", source="MONDO:superClassOf"} xref: Orphanet:93111 {source="MONDO:equivalentTo", source="OMIM:137920"} xref: SCTID:446641003 {source="MONDO:equivalentTo"} xref: UMLS:C0431693 {source="Orphanet:93111", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:137920", source="NCIT:C123018"} -xref: UMLS:C2959918 {source="ORDO:93111/e", source="Orphanet:93111", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2959918 {source="Orphanet:93111", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93111/e"} xref: UMLS:CN206512 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123018", source="indirect"} ! syndromic disease is_a: MONDO:0018911 {source="DOID:0111101"} ! maturity-onset diabetes of the young @@ -137831,8 +137802,8 @@ def: "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic subset: ordo_disease {source="Orphanet:69735"} synonym: "hypotrichosis lymphedema telangiectasia syndrome" RELATED [GARD:0012827] xref: GARD:0012827 {source="shared-xref", source="MONDO:equivalentTo"} -xref: OMIM:137940 {source="MONDO:superClassOf", source="ORDO:69735/btnt"} -xref: OMIM:607823 {source="MONDO:superClassOf", source="ORDO:69735/btnt"} +xref: OMIM:137940 {source="Orphanet:69735/btnt", source="MONDO:superClassOf"} +xref: OMIM:607823 {source="Orphanet:69735/btnt", source="MONDO:superClassOf"} xref: Orphanet:2087 {source="OMIM:137940"} xref: Orphanet:69735 {source="MONDO:equivalentTo"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:69735", source="Orphanet:69735/inferred"} ! genetic vascular anomaly @@ -137858,11 +137829,11 @@ synonym: "glomerulopathy with fibronectin deposits 2" RELATED [MESH:C536826] synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, MESH:C536826] synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826] xref: GARD:0009268 {source="MONDO:equivalentTo"} -xref: ICD10CM:N07.6 {source="ORDO:84090/attributed", source="ORDO:84090/ntbt", source="Orphanet:84090"} +xref: ICD10CM:N07.6 {source="Orphanet:84090", source="Orphanet:84090/attributed", source="Orphanet:84090/ntbt"} xref: MESH:C536826 {source="MONDO:equivalentTo"} xref: MESH:C562900 {source="MONDO:equivalentTo"} -xref: OMIM:137950 {source="ORDO:84090/e", source="Orphanet:84090", source="MONDO:superClassOf", source="GARD:0009268"} -xref: OMIM:601894 {source="ORDO:84090/btnt", source="Orphanet:84090", source="MONDO:superClassOf"} +xref: OMIM:137950 {source="Orphanet:84090", source="MONDO:superClassOf", source="Orphanet:84090/e", source="GARD:0009268"} +xref: OMIM:601894 {source="Orphanet:84090", source="MONDO:superClassOf", source="Orphanet:84090/btnt"} xref: OMIMPS:137950 {source="MONDO:equivalentTo"} xref: Orphanet:84090 {source="MONDO:equivalentTo", source="OMIM:137950", source="GARD:0009268"} xref: SCTID:236535001 {source="MONDO:equivalentTo"} @@ -137890,15 +137861,15 @@ synonym: "multiple glomus tumors" EXACT [Orphanet:83454] synonym: "Venous malformations with glomus cells" EXACT [OMIM:138000, Orphanet:83454] synonym: "VMGLOM" EXACT ABBREVIATION [Orphanet:83454] xref: DOID:7996 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q27.8 {source="Orphanet:83454", source="ORDO:83454/attributed", source="ORDO:83454/ntbt"} -xref: MedDRA:10018381 {source="ORDO:83454/e", source="Orphanet:83454"} -xref: MESH:C536827 {source="ORDO:83454/e", source="Orphanet:83454", source="MONDO:equivalentTo"} +xref: ICD10CM:Q27.8 {source="Orphanet:83454/attributed", source="Orphanet:83454/ntbt", source="Orphanet:83454"} +xref: MedDRA:10018381 {source="Orphanet:83454", source="Orphanet:83454/e"} +xref: MESH:C536827 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"} xref: NCIT:C5350 {source="DOID:7996", source="MONDO:equivalentTo"} -xref: OMIM:138000 {source="ORDO:83454/e", source="Orphanet:83454", source="MONDO:equivalentTo"} +xref: OMIM:138000 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"} xref: Orphanet:83454 {source="OMIM:138000", source="MONDO:equivalentTo"} xref: SCTID:715644000 {source="MONDO:equivalentTo"} xref: UMLS:C1333987 {source="NCIT:C5350", source="DOID:7996", source="MONDO:equivalentTo"} -xref: UMLS:C1841984 {source="OMIM:138000", source="ORDO:83454/e", source="NCBI:mim2gene_medline", source="Orphanet:83454", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: UMLS:C1841984 {source="OMIM:138000", source="NCBI:mim2gene_medline", source="Orphanet:83454", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:83454/e"} is_a: MONDO:0015145 {source="Orphanet:83454"} ! neurovascular malformation is_a: MONDO:0015953 {source="Orphanet:83454", source="Orphanet:83454/inferred"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0016229 {source="MONDO:0018730-obsoleted"} ! genetic vascular anomaly @@ -137979,9 +137950,9 @@ synonym: "Goniodysgenesis--intellectual disability--short stature syndrome" RELA synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED DEPRECATED [OMIM:138770] synonym: "Goniodysgenesis-intellectual disability-short stature syndrome" EXACT [Orphanet:2090] xref: GARD:0002523 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2090/attributed", source="ORDO:2090/ntbt", source="Orphanet:2090"} +xref: ICD10CM:Q87.8 {source="Orphanet:2090", source="Orphanet:2090/attributed", source="Orphanet:2090/ntbt"} xref: MESH:C564214 {source="MONDO:equivalentTo"} -xref: OMIM:138770 {source="MONDO:equivalentTo", source="Orphanet:2090", source="ORDO:2090/e"} +xref: OMIM:138770 {source="MONDO:equivalentTo", source="Orphanet:2090", source="Orphanet:2090/e"} xref: Orphanet:2090 {source="OMIM:138770", source="MONDO:equivalentTo"} xref: SCTID:716024001 {source="MONDO:equivalentTo"} xref: UMLS:C1841854 {source="OMIM:138770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2090"} @@ -138005,12 +137976,12 @@ synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELA synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790] synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091] xref: GARD:0001671 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2091/attributed", source="ORDO:2091/ntbt", source="Orphanet:2091"} +xref: ICD10CM:Q87.8 {source="Orphanet:2091", source="Orphanet:2091/attributed", source="Orphanet:2091/ntbt"} xref: MESH:C535986 {source="MONDO:equivalentTo"} -xref: OMIM:138790 {source="MONDO:equivalentTo", source="ORDO:2091/e", source="Orphanet:2091"} +xref: OMIM:138790 {source="MONDO:equivalentTo", source="Orphanet:2091", source="Orphanet:2091/e"} xref: Orphanet:2091 {source="MONDO:equivalentTo", source="OMIM:138790"} xref: SCTID:723409007 {source="MONDO:equivalentTo"} -xref: UMLS:C1841853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2091/e", source="Orphanet:2091", source="OMIM:138790"} +xref: UMLS:C1841853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2091", source="OMIM:138790", source="Orphanet:2091/e"} is_a: MONDO:0015161 {source="Orphanet:2091", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2091", source="Orphanet:2091/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2091"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -138030,10 +138001,10 @@ synonym: "goiter, nontoxic, with Intrathyroidal calcification" EXACT [OMIM:13880 synonym: "MNG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:138800] synonym: "multinodular goiter, adolescent" EXACT [OMIM:138800] synonym: "simple goiter" EXACT [OMIM:138800] -xref: ICD10CM:E04.2 {source="Orphanet:276399", source="ORDO:276399/attributed", source="ORDO:276399/ntbt"} +xref: ICD10CM:E04.2 {source="Orphanet:276399/attributed", source="Orphanet:276399/ntbt", source="Orphanet:276399"} xref: ICD9:240.0 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:C562732 {source="MONDO:equivalentTo"} -xref: OMIM:138800 {source="ORDO:276399/e", source="Orphanet:276399", source="MONDO:equivalentTo"} +xref: OMIM:138800 {source="Orphanet:276399", source="MONDO:equivalentTo", source="Orphanet:276399/e"} xref: Orphanet:276399 {source="MONDO:equivalentTo", source="OMIM:138800"} xref: SCTID:267369002 {source="MONDO:equivalentTo"} xref: UMLS:C0018022 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -138068,12 +138039,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2097"} synonym: "Grant syndrome" EXACT [OMIM:138930] synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559] xref: GARD:0002559 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:2097/attributed", source="ORDO:2097/ntbt", source="Orphanet:2097"} -xref: MESH:C537293 {source="MONDO:equivalentTo", source="ORDO:2097/e", source="Orphanet:2097"} -xref: OMIM:138930 {source="MONDO:equivalentTo", source="ORDO:2097/e", source="Orphanet:2097"} +xref: ICD10CM:Q87.5 {source="Orphanet:2097/attributed", source="Orphanet:2097/ntbt", source="Orphanet:2097"} +xref: MESH:C537293 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} +xref: OMIM:138930 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} xref: Orphanet:2097 {source="MONDO:equivalentTo", source="OMIM:138930"} xref: SCTID:723827003 {source="MONDO:equivalentTo"} -xref: UMLS:C1841835 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:138930", source="ORDO:2097/e", source="Orphanet:2097"} +xref: UMLS:C1841835 {source="NCBI:mim2gene_medline", source="Orphanet:2097/e", source="MONDO:equivalentTo", source="OMIM:138930", source="Orphanet:2097"} is_a: MONDO:0003847 {source="OMIM:138930"} ! Mendelian disease relationship: disease_has_feature HP:0004349 {source="Orphanet:2097"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2097"} ! obsolete primary bone dysplasia with decreased bone density @@ -138116,14 +138087,14 @@ synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721] synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044] xref: DOID:0111044 {source="MONDO:equivalentTo"} xref: GARD:0002562 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.1 {source="Orphanet:721", source="ORDO:721/inclusion", source="DOID:0111044", source="ORDO:721/ntbt"} -xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="DOID:0111044", source="ORDO:721/e"} +xref: ICD10CM:D69.1 {source="Orphanet:721/ntbt", source="Orphanet:721", source="DOID:0111044", source="Orphanet:721/inclusion"} +xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} xref: NCIT:C84741 {source="MONDO:equivalentTo"} -xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="DOID:0111044", source="ORDO:721/e"} -xref: OMIM:187900 {source="Orphanet:721", source="MONDO:superClassOf", source="ORDO:721/btnt"} +xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} +xref: OMIM:187900 {source="Orphanet:721/btnt", source="Orphanet:721", source="MONDO:superClassOf"} xref: Orphanet:721 {source="MONDO:equivalentTo", source="OMIM:139090"} xref: SCTID:51720005 {source="MONDO:equivalentTo"} -xref: UMLS:C0272302 {source="Orphanet:721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:139090", source="DOID:0111044", source="ORDO:721/e", source="NCIT:C84741"} +xref: UMLS:C0272302 {source="Orphanet:721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:139090", source="Orphanet:721/e", source="DOID:0111044", source="NCIT:C84741"} xref: UMLS:C2717750 {source="Orphanet:721", source="MONDO:equivalentTo"} xref: UMLS:CN205641 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:139090", source="MONDO:Redundant", source="OMIM:139090", source="indirect"} ! inherited bleeding disorder, platelet-type @@ -138159,14 +138130,14 @@ synonym: "MYHRE syndrome" RELATED [OMIM:139210] synonym: "Myhre syndrome" EXACT [MONDO:Lexical, OMIM:139210] synonym: "MYHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139210] xref: GARD:0002572 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2588", source="ORDO:2588/attributed", source="ORDO:2588/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2588/attributed", source="Orphanet:2588/ntbt", source="Orphanet:2588"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537620 {source="MONDO:equivalentTo"} xref: NCIT:C123815 {source="MONDO:equivalentTo"} -xref: OMIM:139210 {source="Orphanet:2588", source="ORDO:2588/e", source="MONDO:equivalentTo"} +xref: OMIM:139210 {source="Orphanet:2588", source="MONDO:equivalentTo", source="Orphanet:2588/e"} xref: Orphanet:2588 {source="OMIM:139210", source="MONDO:equivalentTo"} xref: SCTID:699316006 {source="MONDO:equivalentTo"} -xref: UMLS:C0796081 {source="OMIM:139210", source="NCIT:C123815", source="Orphanet:2588", source="NCBI:mim2gene_medline", source="ORDO:2588/e", source="MONDO:equivalentTo"} +xref: UMLS:C0796081 {source="OMIM:139210", source="NCIT:C123815", source="Orphanet:2588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2588/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2588", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123815", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2588"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -138204,10 +138175,10 @@ synonym: "increased aromatase activity" EXACT [DOID:0090122] xref: DOID:0090122 {source="MONDO:equivalentTo"} xref: GARD:0012494 {source="MONDO:equivalentTo"} xref: GARD:12949 {source="DOID:0090122"} -xref: ICD10CM:E30.1 {source="MONDO:subClassOf", source="DOID:0090122", source="Orphanet:178345", source="ORDO:178345/attributed", source="ORDO:178345/ntbt"} +xref: ICD10CM:E30.1 {source="MONDO:subClassOf", source="Orphanet:178345/attributed", source="Orphanet:178345/ntbt", source="DOID:0090122", source="Orphanet:178345"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C000591739 {source="MONDO:equivalentTo"} -xref: OMIM:139300 {source="ORDO:178345/e", source="DOID:0090122", source="Orphanet:178345", source="MONDO:equivalentTo"} +xref: OMIM:139300 {source="DOID:0090122", source="Orphanet:178345", source="MONDO:equivalentTo", source="Orphanet:178345/e"} xref: Orphanet:178345 {source="OMIM:139300", source="DOID:0090122", source="MONDO:equivalentTo"} xref: SCTID:709075008 {source="MONDO:equivalentTo"} xref: UMLS:C1841762 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -138236,8 +138207,8 @@ synonym: "neuropathy, inflammatory demyelinating" EXACT [OMIM:139393, OMIM:genem synonym: "polyneuropathy, inflammatory demyelinating, acute" EXACT [OMIM:139393] synonym: "polyneuropathy, inflammatory demyelinating, chronic" EXACT [OMIM:139393] xref: GARD:0006102 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G61.8 {source="ORDO:2932/ntbt", source="Orphanet:2932"} -xref: MedDRA:10057645 {source="ORDO:2932/e", source="Orphanet:2932"} +xref: ICD10CM:G61.8 {source="Orphanet:2932", source="Orphanet:2932/ntbt"} +xref: MedDRA:10057645 {source="Orphanet:2932", source="Orphanet:2932/e"} xref: OMIM:139393 {source="DOID:12842", source="MONDO:equivalentTo"} xref: Orphanet:2932 {source="MONDO:relatedTo"} xref: Orphanet:98916 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="OMIM:139393"} @@ -138245,7 +138216,7 @@ xref: SCTID:155082001 {source="DOID:12842"} xref: SCTID:267707000 {source="DOID:12842"} xref: SCTID:40956001 {source="DOID:12842", source="MONDO:relatedTo"} xref: SCTID:716723000 {source="MONDO:equivalentTo"} -xref: UMLS:C0393819 {source="ORDO:2932/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2932", source="OMIM:139393"} +xref: UMLS:C0393819 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2932", source="OMIM:139393", source="Orphanet:2932/e"} xref: UMLS:C1841700 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0016218 {source="OMIM:139393", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome @@ -138281,12 +138252,12 @@ synonym: "hairy elbows syndrome" EXACT [Orphanet:2220] synonym: "hypertrichosis cubiti" RELATED [GARD:0000143, OMIM:139600] synonym: "MacDermot-Patton-Williams syndrome" EXACT [Orphanet:2220] xref: GARD:0000143 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.2 {source="Orphanet:2220", source="ORDO:2220/attributed", source="ORDO:2220/ntbt"} -xref: MedDRA:10068636 {source="Orphanet:2220", source="ORDO:2220/e"} +xref: ICD10CM:Q84.2 {source="Orphanet:2220", source="Orphanet:2220/attributed", source="Orphanet:2220/ntbt"} +xref: MedDRA:10068636 {source="Orphanet:2220", source="Orphanet:2220/e"} xref: MESH:C535618 {source="MONDO:equivalentTo"} -xref: OMIM:139600 {source="GARD:0000143", source="Orphanet:2220", source="MONDO:equivalentTo", source="ORDO:2220/e"} +xref: OMIM:139600 {source="GARD:0000143", source="Orphanet:2220", source="MONDO:equivalentTo", source="Orphanet:2220/e"} xref: Orphanet:2220 {source="GARD:0000143", source="MONDO:equivalentTo", source="OMIM:139600"} -xref: UMLS:C1841696 {source="Orphanet:2220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:139600", source="ORDO:2220/e"} +xref: UMLS:C1841696 {source="Orphanet:2220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:139600", source="Orphanet:2220/e"} is_a: MONDO:0019280 {source="MESH:C535618", source="Orphanet:2220"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:2220"} ! ectodermal dysplasia syndrome property_value: confidence "7.125" xsd:double @@ -138328,11 +138299,11 @@ synonym: "hand and foot deformity - flat facies" RELATED [GARD:0002593] synonym: "hand and foot deformity with flat facies" RELATED [OMIM:139750] synonym: "hand and foot deformity-flat facies syndrome" EXACT [Orphanet:1927] xref: GARD:0002593 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1927/attributed", source="ORDO:1927/ntbt", source="Orphanet:1927"} +xref: ICD10CM:Q87.8 {source="Orphanet:1927/attributed", source="Orphanet:1927/ntbt", source="Orphanet:1927"} xref: MESH:C535626 {source="MONDO:equivalentTo"} -xref: OMIM:139750 {source="MONDO:equivalentTo", source="Orphanet:1927", source="ORDO:1927/e"} +xref: OMIM:139750 {source="Orphanet:1927/e", source="MONDO:equivalentTo", source="Orphanet:1927"} xref: Orphanet:1927 {source="OMIM:139750", source="MONDO:equivalentTo"} -xref: UMLS:C1841693 {source="OMIM:139750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1927", source="ORDO:1927/e"} +xref: UMLS:C1841693 {source="OMIM:139750", source="Orphanet:1927/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1927"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation is_a: MONDO:0021147 {source="Orphanet:1927", source="Orphanet:1927/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -138361,14 +138332,14 @@ synonym: "HFGS" EXACT ABBREVIATION [DOID:0060739, Orphanet:2438] synonym: "HFU syndrome" RELATED [GARD:0002594] xref: DOID:0060739 {source="MONDO:equivalentTo"} xref: GARD:0002594 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q51.2 {source="ORDO:2438/attributed", source="ORDO:2438/ntbt", source="Orphanet:2438", source="DOID:0060739"} +xref: ICD10CM:Q51.2 {source="Orphanet:2438", source="Orphanet:2438/attributed", source="Orphanet:2438/ntbt", source="DOID:0060739"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10072361 {source="Orphanet:2438", source="ORDO:2438/e"} +xref: MedDRA:10072361 {source="Orphanet:2438", source="Orphanet:2438/e"} xref: MESH:C535627 {source="MONDO:equivalentTo"} -xref: OMIM:140000 {source="MONDO:equivalentTo", source="Orphanet:2438", source="ORDO:2438/e", source="DOID:0060739"} +xref: OMIM:140000 {source="MONDO:equivalentTo", source="Orphanet:2438", source="Orphanet:2438/e", source="DOID:0060739"} xref: Orphanet:2438 {source="MONDO:equivalentTo", source="OMIM:140000", source="DOID:0060739"} xref: SCTID:702425002 {source="MONDO:equivalentTo"} -xref: UMLS:C1841679 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2438", source="ORDO:2438/e", source="OMIM:140000"} +xref: UMLS:C1841679 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2438", source="OMIM:140000", source="Orphanet:2438/e"} is_a: MONDO:0000426 {source="DOID:0060739", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:2438", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015846 {source="Orphanet:2438"} ! syndromic uterovaginal malformation @@ -138451,12 +138422,12 @@ synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [Orphanet:21 synonym: "hawkinsinuria" EXACT CLINGEN_PREFERRED [OMIM:140350] xref: DOID:0111362 {source="MONDO:equivalentTo"} xref: GARD:0005668 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.2 {source="ORDO:2118/attributed", source="ORDO:2118/ntbt", source="Orphanet:2118"} -xref: MESH:C535845 {source="MONDO:equivalentTo", source="ORDO:2118/e", source="Orphanet:2118"} -xref: OMIM:140350 {source="MONDO:equivalentTo", source="ORDO:2118/e", source="Orphanet:2118"} +xref: ICD10CM:E70.2 {source="Orphanet:2118", source="Orphanet:2118/attributed", source="Orphanet:2118/ntbt"} +xref: MESH:C535845 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} +xref: OMIM:140350 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} xref: Orphanet:2118 {source="MONDO:equivalentTo", source="OMIM:140350"} xref: SCTID:414380008 {source="MONDO:equivalentTo"} -xref: UMLS:C2931042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2118/e", source="OMIM:140350", source="Orphanet:2118"} +xref: UMLS:C2931042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:140350", source="Orphanet:2118", source="Orphanet:2118/e"} is_a: MONDO:0017307 {source="Orphanet:2118", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder of tyrosine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5147 {source="mim2gene_medgen"} ! HPD property_value: confidence "4.277777777777778" xsd:double @@ -138494,12 +138465,12 @@ synonym: "heart-hand syndrome, Spanish type" EXACT [OMIM:140450, Orphanet:1342] synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342] synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614] xref: GARD:0002614 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:1342", source="ORDO:1342/attributed", source="ORDO:1342/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:1342/attributed", source="Orphanet:1342/ntbt", source="Orphanet:1342"} xref: MESH:C535853 {source="MONDO:equivalentTo"} -xref: OMIM:140450 {source="ORDO:1342/e", source="Orphanet:1342", source="MONDO:equivalentTo"} +xref: OMIM:140450 {source="Orphanet:1342", source="MONDO:equivalentTo", source="Orphanet:1342/e"} xref: Orphanet:1342 {source="MONDO:equivalentTo", source="OMIM:140450"} xref: SCTID:721013001 {source="MONDO:equivalentTo"} -xref: UMLS:C1841657 {source="ORDO:1342/e", source="Orphanet:1342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:140450"} +xref: UMLS:C1841657 {source="Orphanet:1342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:140450", source="Orphanet:1342/e"} is_a: MONDO:0007732 {source="DC-OMIM:140450"} ! Holt-Oram syndrome is_a: MONDO:0015110 {source="Orphanet:1342", source="indirect"} ! genetic cardiac rhythm disease is_a: MONDO:0015161 {source="Orphanet:1342", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -138545,12 +138516,12 @@ synonym: "Heinz body anemias, alpha-" EXACT [OMIM:140700, OMIM:genemap2] xref: DOID:0111363 {source="MONDO:equivalentTo"} xref: GARD:0010718 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: HP:0005511 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D58.2 {source="Orphanet:178330", source="ORDO:178330/attributed", source="ORDO:178330/ntbt"} -xref: MedDRA:10002058 {source="Orphanet:178330", source="ORDO:178330/e"} +xref: ICD10CM:D58.2 {source="Orphanet:178330", source="Orphanet:178330/attributed", source="Orphanet:178330/ntbt"} +xref: MedDRA:10002058 {source="Orphanet:178330", source="Orphanet:178330/e"} xref: MESH:C563030 {source="MONDO:equivalentTo"} -xref: OMIM:140700 {source="Orphanet:178330", source="MONDO:equivalentTo", source="ORDO:178330/e"} +xref: OMIM:140700 {source="Orphanet:178330", source="MONDO:equivalentTo", source="Orphanet:178330/e"} xref: Orphanet:178330 {source="OMIM:140700", source="MONDO:equivalentObsolete"} -xref: UMLS:C0700299 {source="OMIM:140700", source="Orphanet:178330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:178330/e"} +xref: UMLS:C0700299 {source="OMIM:140700", source="Orphanet:178330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:178330/e"} is_a: MONDO:0003664 {source="Orphanet:178330"} ! hemolytic anemia relationship: has_modifier MONDO:0021136 {source="MONDO:0015910"} ! rare relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -138565,12 +138536,12 @@ synonym: "raphe, supraumbilical Midline, with cavernous Facial hemangiomas" RELA synonym: "sternal nonunion with supraumbilical raphe" RELATED [OMIM:140850] synonym: "supraumbilical midabdominal raphe and facial cavernous hemangiomas" RELATED [GARD:0008524] xref: GARD:0008524 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D18.0 {source="Orphanet:2124", source="ORDO:2124/attributed", source="ORDO:2124/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:2124", source="Orphanet:2124/attributed", source="Orphanet:2124/ntbt"} xref: MESH:C538144 {source="MONDO:equivalentTo"} -xref: OMIM:140850 {source="Orphanet:2124", source="ORDO:2124/e", source="MONDO:equivalentTo"} +xref: OMIM:140850 {source="Orphanet:2124", source="MONDO:equivalentTo", source="Orphanet:2124/e"} xref: Orphanet:2124 {source="MONDO:equivalentObsolete", source="OMIM:140850"} xref: SCTID:234140000 {source="MONDO:equivalentTo"} -xref: UMLS:C0472694 {source="Orphanet:2124", source="ORDO:2124/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:140850"} +xref: UMLS:C0472694 {source="Orphanet:2124", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2124/e", source="OMIM:140850"} is_a: MONDO:0003847 {source="GARD:0008524", source="OMIM:140850", source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian disease property_value: confidence "8.6" xsd:double @@ -138604,15 +138575,15 @@ synonym: "KMP" RELATED ABBREVIATION [GARD:0000070] synonym: "thrombocytopenia-hemangioma syndrome" EXACT [GARD:0000070, NCIT:C3821] synonym: "thrombopenia-hemangioma syndrome" EXACT [NCIT:C3821] xref: GARD:0000070 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="Orphanet:2330", source="ORDO:2330/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:2330", source="Orphanet:2330/ntbt"} xref: ICD9:287.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058423 {source="Orphanet:2330", source="ORDO:2330/e"} +xref: MedDRA:10058423 {source="Orphanet:2330", source="Orphanet:2330/e"} xref: MESH:D059885 {source="MONDO:equivalentTo"} xref: NCIT:C3821 {source="MONDO:equivalentTo"} -xref: OMIM:141000 {source="Orphanet:2330", source="MONDO:equivalentTo", source="GARD:0000070", source="ORDO:2330/e"} +xref: OMIM:141000 {source="Orphanet:2330", source="MONDO:equivalentTo", source="Orphanet:2330/e", source="GARD:0000070"} xref: Orphanet:2330 {source="MONDO:equivalentTo", source="OMIM:141000", source="GARD:0000070"} xref: SCTID:86635005 {source="MONDO:equivalentTo"} -xref: UMLS:C0221025 {source="Orphanet:2330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:141000", source="GARD:0000070", source="NCIT:C3821", source="ORDO:2330/e"} +xref: UMLS:C0221025 {source="Orphanet:2330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2330/e", source="OMIM:141000", source="GARD:0000070", source="NCIT:C3821"} is_a: MONDO:0003847 {source="MONDO:Redundant", source="linkedlifedata"} ! Mendelian disease property_value: confidence "7.125" xsd:double @@ -138650,11 +138621,11 @@ synonym: "Romberg hemi-facial atrophy" RELATED [GARD:0007338] synonym: "Romberg syndrome" EXACT [Orphanet:1214] xref: DOID:1757 {source="MONDO:equivalentTo"} xref: GARD:0007338 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G51.8 {source="ORDO:1214/ntbt", source="Orphanet:1214"} +xref: ICD10CM:G51.8 {source="Orphanet:1214", source="Orphanet:1214/ntbt"} xref: MESH:D005150 {source="MONDO:equivalentTo", source="DOID:1757"} xref: NCIT:C116916 {source="MONDO:equivalentTo", source="DOID:1757"} xref: NCIT:C84703 {source="MONDO:otherHierarchy", source="DOID:1757"} -xref: OMIM:141300 {source="ORDO:1214/e", source="MONDO:equivalentTo", source="Orphanet:1214", source="DOID:1757"} +xref: OMIM:141300 {source="MONDO:equivalentTo", source="Orphanet:1214", source="DOID:1757", source="Orphanet:1214/e"} xref: Orphanet:1214 {source="MONDO:equivalentTo", source="OMIM:141300"} xref: SCTID:29868009 {source="DOID:1757"} xref: SCTID:718224004 {source="MONDO:equivalentTo"} @@ -138676,9 +138647,9 @@ synonym: "hemifacial hyperplasia strabismus" RELATED [GARD:0002633] synonym: "hemifacial hyperplasia with strabismus" RELATED [OMIM:141350] synonym: "hemifacial hyperplasia-strabismus syndrome" EXACT [Orphanet:1241] xref: GARD:0002633 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q67.4 {source="Orphanet:1241", source="ORDO:1241/attributed", source="ORDO:1241/ntbt"} +xref: ICD10CM:Q67.4 {source="Orphanet:1241", source="Orphanet:1241/attributed", source="Orphanet:1241/ntbt"} xref: MESH:C564199 {source="MONDO:equivalentTo"} -xref: OMIM:141350 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="ORDO:1241/e"} +xref: OMIM:141350 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="Orphanet:1241/e"} xref: Orphanet:1241 {source="GARD:0002633", source="MONDO:equivalentTo", source="OMIM:141350"} xref: SCTID:733046006 {source="MONDO:equivalentTo"} xref: UMLS:C1841640 {source="Orphanet:1241", source="GARD:0002633", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:141350"} @@ -138702,11 +138673,11 @@ synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549] synonym: "Oavs with radial defect" RELATED [OMIM:141400] synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400] xref: GARD:0003653 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:2549/attributed", source="ORDO:2549/ntbt", source="Orphanet:2549"} -xref: OMIM:141400 {source="MONDO:equivalentTo", source="ORDO:2549/e", source="Orphanet:2549"} +xref: ICD10CM:Q75.8 {source="Orphanet:2549/attributed", source="Orphanet:2549/ntbt", source="Orphanet:2549"} +xref: OMIM:141400 {source="Orphanet:2549/e", source="MONDO:equivalentTo", source="Orphanet:2549"} xref: Orphanet:2549 {source="MONDO:equivalentTo", source="OMIM:141400"} xref: SCTID:726722009 {source="MONDO:equivalentTo"} -xref: UMLS:C0220681 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2549/e", source="Orphanet:2549", source="OMIM:141400"} +xref: UMLS:C0220681 {source="Orphanet:2549/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2549", source="OMIM:141400"} xref: UMLS:C0265240 {source="MONDO:superClassOf", source="Orphanet:2549"} is_a: MONDO:0015161 {source="Orphanet:2549", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:2549"} ! branchial arch or oral-acral syndrome @@ -138722,9 +138693,9 @@ synonym: "facial hemispasm" EXACT [Orphanet:221083] synonym: "focal myoclonus of face" EXACT [Orphanet:221083] synonym: "hemifacial spasm" RELATED [Orphanet:221083] synonym: "hemifacial spasm, familial" RELATED [OMIM:141405] -xref: ICD10CM:G51.3 {source="MONDO:equivalentTo", source="ORDO:221083/e", source="Orphanet:221083"} +xref: ICD10CM:G51.3 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} xref: MESH:C564198 {source="MONDO:equivalentTo"} -xref: OMIM:141405 {source="MONDO:equivalentTo", source="ORDO:221083/e", source="Orphanet:221083"} +xref: OMIM:141405 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} xref: Orphanet:221083 {source="OMIM:141405", source="MONDO:equivalentTo"} xref: UMLS:C1841639 {source="OMIM:141405", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C3536936 {source="MONDO:equivalentTo"} @@ -138776,13 +138747,13 @@ synonym: "Hemoglobin H-related mental retardation" RELATED DEPRECATED [OMIM:1417 synonym: "intellectual disability with Hemoglobin H" RELATED [OMIM:141750] synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [OMIM:141750] xref: DOID:0110029 {source="MONDO:equivalentTo"} -xref: ICD10CM:D56.0 {source="DOID:0110029", source="MONDO:relatedTo", source="ORDO:98791/attributed", source="ORDO:98791/ntbt", source="Orphanet:98791"} +xref: ICD10CM:D56.0 {source="DOID:0110029", source="MONDO:relatedTo", source="Orphanet:98791/attributed", source="Orphanet:98791/ntbt", source="Orphanet:98791"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563050 {source="MONDO:equivalentTo"} -xref: OMIM:141750 {source="DOID:0110029", source="MONDO:equivalentTo", source="ORDO:98791/e", source="Orphanet:98791"} +xref: OMIM:141750 {source="DOID:0110029", source="Orphanet:98791/e", source="MONDO:equivalentTo", source="Orphanet:98791"} xref: Orphanet:98791 {source="DOID:0110029", source="MONDO:equivalentTo", source="OMIM:141750"} xref: SCTID:277918006 {source="MONDO:equivalentTo"} -xref: UMLS:C0475813 {source="MONDO:equivalentTo", source="ORDO:98791/e", source="Orphanet:98791"} +xref: UMLS:C0475813 {source="Orphanet:98791/e", source="MONDO:equivalentTo", source="Orphanet:98791"} xref: UMLS:C0795917 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:141750", source="Orphanet:98791"} is_a: MONDO:0000508 {source="Orphanet:98791"} ! syndromic intellectual disability is_a: MONDO:0016513 {source="Orphanet:98791"} ! alpha-thalassemia-related diseases @@ -138921,11 +138892,11 @@ synonym: "hirsutism, skeletal dysplasia, and mental retardation" RELATED DEPRECA synonym: "Wiedemann Oldigs Oppermann syndrome" RELATED [GARD:0005566] synonym: "Wiedemann-Oldigs-Oppermann syndrome" EXACT [Orphanet:2156] xref: GARD:0005566 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2156", source="ORDO:2156/attributed", source="ORDO:2156/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2156/attributed", source="Orphanet:2156/ntbt", source="Orphanet:2156"} xref: MESH:C536705 {source="MONDO:equivalentTo"} -xref: OMIM:142625 {source="ORDO:2156/e", source="Orphanet:2156", source="MONDO:equivalentTo"} +xref: OMIM:142625 {source="Orphanet:2156", source="MONDO:equivalentTo", source="Orphanet:2156/e"} xref: Orphanet:2156 {source="OMIM:142625", source="MONDO:equivalentTo"} -xref: UMLS:C0795976 {source="ORDO:2156/e", source="Orphanet:2156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0795976 {source="Orphanet:2156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2156/e"} xref: UMLS:C3149452 {source="OMIM:142625", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2156", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2156"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -138938,9 +138909,9 @@ name: hereditary progressive mucinous histiocytosis def: "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." [Orphanet:158025] subset: ordo_disease {source="Orphanet:158025"} synonym: "histiocytosis, progressive mucinous" RELATED [OMIM:142630] -xref: ICD10CM:D76.3 {source="Orphanet:158025", source="ORDO:158025/ntbt"} +xref: ICD10CM:D76.3 {source="Orphanet:158025", source="Orphanet:158025/ntbt"} xref: MESH:C564186 {source="MONDO:equivalentTo"} -xref: OMIM:142630 {source="Orphanet:158025", source="ORDO:158025/e", source="MONDO:equivalentTo"} +xref: OMIM:142630 {source="Orphanet:158025", source="MONDO:equivalentTo", source="Orphanet:158025/e"} xref: Orphanet:158025 {source="MONDO:equivalentTo", source="OMIM:142630"} xref: UMLS:C1840586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:142630"} is_a: MONDO:0015531 {source="Orphanet:158025"} ! non-Langerhans cell histiocytosis @@ -138962,9 +138933,9 @@ synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [OMIM:142669 synonym: "premature degenerative osteoarthropathy of the hip" EXACT [Orphanet:2114] xref: DOID:0111367 {source="MONDO:equivalentTo"} xref: GARD:0002690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q65.8 {source="Orphanet:2114", source="ORDO:2114/attributed", source="ORDO:2114/ntbt"} +xref: ICD10CM:Q65.8 {source="Orphanet:2114/attributed", source="Orphanet:2114/ntbt", source="Orphanet:2114"} xref: MESH:C564185 {source="MONDO:equivalentTo"} -xref: OMIM:142669 {source="ORDO:2114/e", source="Orphanet:2114", source="MONDO:equivalentTo"} +xref: OMIM:142669 {source="Orphanet:2114", source="MONDO:equivalentTo", source="Orphanet:2114/e"} xref: Orphanet:2114 {source="OMIM:142669", source="MONDO:equivalentTo"} xref: SCTID:721148005 {source="MONDO:equivalentTo"} xref: UMLS:C1840572 {source="OMIM:142669", source="NCBI:mim2gene_medline", source="Orphanet:2114", source="MONDO:notFoundInDiseaseSubset"} @@ -138992,10 +138963,10 @@ synonym: "tumor necrosis factor receptor 1-associated periodic syndrome" EXACT [ synonym: "tumor necrosis factor receptor-associated periodic syndrome" RELATED [OMIM:142680] xref: DOID:0090018 {source="MONDO:equivalentTo"} xref: GARD:0008457 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E85.0 {source="Orphanet:32960", source="DOID:0090018", source="ORDO:32960/attributed", source="ORDO:32960/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:32960", source="Orphanet:32960/attributed", source="Orphanet:32960/ntbt", source="DOID:0090018"} xref: MESH:C536657 {source="MONDO:equivalentTo"} xref: NCIT:C119051 {source="MONDO:equivalentTo"} -xref: OMIM:142680 {source="Orphanet:32960", source="MONDO:equivalentTo", source="DOID:0090018", source="ORDO:32960/e"} +xref: OMIM:142680 {source="Orphanet:32960", source="MONDO:equivalentTo", source="Orphanet:32960/e", source="DOID:0090018"} xref: Orphanet:32960 {source="MONDO:equivalentTo", source="OMIM:142680", source="DOID:0090018"} xref: SCTID:403833009 {source="MONDO:equivalentTo"} xref: UMLS:C1275126 {source="Orphanet:32960", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:142680", source="NCIT:C119051"} @@ -139079,16 +139050,16 @@ synonym: "Hos1" RELATED [OMIM:142900] synonym: "ventriculo-radial syndrome" RELATED [GARD:0006666] xref: DOID:0060468 {source="MONDO:equivalentTo"} xref: GARD:0006666 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="DOID:0060468", source="ORDO:392/ntbt", source="Orphanet:392", source="ORDO:392/inclusion"} +xref: ICD10CM:Q87.2 {source="Orphanet:392/inclusion", source="DOID:0060468", source="Orphanet:392", source="Orphanet:392/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050469 {source="ORDO:392/e", source="Orphanet:392"} -xref: MESH:C535326 {source="ORDO:392/e", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392"} +xref: MedDRA:10050469 {source="Orphanet:392", source="Orphanet:392/e"} +xref: MESH:C535326 {source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"} xref: NCIT:C125592 {source="MONDO:equivalentTo"} -xref: OMIM:142900 {source="ORDO:392/e", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392"} +xref: OMIM:142900 {source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"} xref: Orphanet:392 {source="OMIM:142900", source="DOID:0060468", source="MONDO:equivalentTo"} xref: SCTID:19092004 {source="DOID:0060468", source="MONDO:equivalentTo"} xref: SCTID:205814003 {source="DOID:0060468"} -xref: UMLS:C0265264 {source="OMIM:142900", source="NCIT:C125592", source="ORDO:392/e", source="NCBI:mim2gene_medline", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392"} +xref: UMLS:C0265264 {source="OMIM:142900", source="NCIT:C125592", source="NCBI:mim2gene_medline", source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"} is_a: MONDO:0000426 {source="DOID:0060468", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125592", source="indirect"} ! syndromic disease is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -139157,9 +139128,9 @@ synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous] synonym: "congenital Horner syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "HORNER syndrome, congenital" RELATED [OMIM:143000] xref: HP:0006837 {source="MONDO:otherHierarchy"} -xref: ICD10CM:G90.2 {source="ORDO:91413/attributed", source="ORDO:91413/ntbt", source="Orphanet:91413"} +xref: ICD10CM:G90.2 {source="Orphanet:91413/attributed", source="Orphanet:91413/ntbt", source="Orphanet:91413"} xref: MESH:C564178 {source="MONDO:equivalentTo"} -xref: OMIM:143000 {source="MONDO:equivalentTo", source="ORDO:91413/e", source="Orphanet:91413"} +xref: OMIM:143000 {source="Orphanet:91413/e", source="MONDO:equivalentTo", source="Orphanet:91413"} xref: Orphanet:91413 {source="MONDO:equivalentTo", source="OMIM:143000"} xref: UMLS:C1840475 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143000", source="Orphanet:91413"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -139189,13 +139160,13 @@ synonym: "humeroradial synostosis (disease)" EXACT [https://orcid.org/0000-0002- xref: DOID:0060467 {source="MONDO:equivalentTo"} xref: GARD:0002748 {source="MONDO:equivalentTo"} xref: HP:0003041 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q74.0 {source="Orphanet:3265", source="DOID:0060467", source="ORDO:3265/attributed", source="ORDO:3265/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:3265", source="Orphanet:3265/attributed", source="Orphanet:3265/ntbt", source="DOID:0060467"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:143050 {source="Orphanet:3265", source="MONDO:equivalentTo", source="DOID:0060467", source="ORDO:3265/e"} -xref: OMIM:236400 {source="MONDO:superClassOf", source="ORDO:3265/e"} +xref: OMIM:143050 {source="Orphanet:3265", source="MONDO:equivalentTo", source="DOID:0060467", source="Orphanet:3265/e"} +xref: OMIM:236400 {source="MONDO:superClassOf", source="Orphanet:3265/e"} xref: Orphanet:3265 {source="OMIM:143050", source="MONDO:equivalentTo", source="DOID:0060467"} xref: SCTID:205329008 {source="MONDO:equivalentTo"} -xref: UMLS:C0431800 {source="Orphanet:3265", source="NCBI:mim2gene_medline", source="DOID:0060467", source="MONDO:notFoundInDiseaseSubset", source="ORDO:3265/e"} +xref: UMLS:C0431800 {source="Orphanet:3265", source="NCBI:mim2gene_medline", source="DOID:0060467", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3265/e"} xref: UMLS:C2930865 {source="OMIM:143050", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001411 {source="DOID:0060467"} ! synostosis is_a: MONDO:0017429 {source="Orphanet:3265"} ! joint formation defects @@ -139226,10 +139197,10 @@ synonym: "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [OMIM:143095] xref: DOID:0050813 {source="MONDO:equivalentTo"} xref: GARD:0002533 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:263463", source="ORDO:263463/attributed", source="ORDO:263463/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:263463/attributed", source="Orphanet:263463/ntbt", source="Orphanet:263463"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537283 {source="MONDO:equivalentTo"} -xref: OMIM:143095 {source="ORDO:263463/e", source="GARD:0002533", source="Orphanet:263463", source="MONDO:equivalentTo", source="DOID:0050813"} +xref: OMIM:143095 {source="GARD:0002533", source="Orphanet:263463", source="MONDO:equivalentTo", source="DOID:0050813", source="Orphanet:263463/e"} xref: Orphanet:263463 {source="OMIM:143095", source="MONDO:equivalentTo"} xref: SCTID:702400006 {source="MONDO:equivalentTo"} xref: UMLS:C1837657 {source="OMIM:143095", source="MONDO:notFoundInDiseaseSubset"} @@ -139256,19 +139227,19 @@ synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM:333.4] synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:12858 {source="MONDO:equivalentTo"} xref: GARD:0006677 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G10 {source="DOID:12858", source="ORDO:399/specific", source="ORDO:399/e", source="Orphanet:399"} +xref: ICD10CM:G10 {source="Orphanet:399/specific", source="DOID:12858", source="Orphanet:399/e", source="Orphanet:399"} xref: ICD10CM:G10-G14 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:333.4 {source="DOID:12858", source="MONDO:equivalentTo", source="i2s"} xref: KEGG:05016 {source="MONDO:relatedTo", source="DOID:12858"} -xref: MedDRA:10070668 {source="ORDO:399/e", source="Orphanet:399"} -xref: MESH:D006816 {source="DOID:12858", source="ORDO:399/e", source="Orphanet:399"} +xref: MedDRA:10070668 {source="Orphanet:399/e", source="Orphanet:399"} +xref: MESH:D006816 {source="DOID:12858", source="Orphanet:399/e", source="Orphanet:399"} xref: NCIT:C82342 {source="DOID:12858", source="MONDO:equivalentTo"} -xref: OMIM:143100 {source="DOID:12858", source="MONDO:equivalentTo", source="ORDO:399/e", source="Orphanet:399"} +xref: OMIM:143100 {source="DOID:12858", source="Orphanet:399/e", source="MONDO:equivalentTo", source="Orphanet:399"} xref: Orphanet:248111 {source="MONDO:superClassOf", source="OMIM:143100"} xref: Orphanet:399 {source="MONDO:equivalentTo", source="OMIM:143100"} xref: SCTID:155006000 {source="DOID:12858"} xref: SCTID:58756001 {source="DOID:12858", source="MONDO:equivalentTo"} -xref: UMLS:C0020179 {source="DOID:12858", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143100", source="NCIT:C82342", source="ORDO:399/e", source="Orphanet:399"} +xref: UMLS:C0020179 {source="DOID:12858", source="Orphanet:399/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143100", source="NCIT:C82342", source="Orphanet:399"} is_a: MONDO:0000167 {source="MONDO:cjm"} ! Huntington disease and related disorders is_a: MONDO:0005395 ! movement disorder is_a: MONDO:0005559 {source="DOID:12858", source="MONDO:Redundant", source="NCIT:C82342", source="Orphanet:399/inferred"} ! neurodegenerative disease @@ -139299,14 +139270,14 @@ synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical, OMIM:143200] synonym: "WGN1" RELATED ABBREVIATION [GARD:0007871] synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143200] xref: GARD:0007871 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="ORDO:898/attributed", source="ORDO:898/ntbt"} -xref: MedDRA:10063383 {source="ORDO:898/e", source="Orphanet:898"} -xref: MESH:C536075 {source="ORDO:898/e", source="Orphanet:898", source="MONDO:equivalentTo"} -xref: OMIM:143200 {source="ORDO:898/e", source="Orphanet:898", source="MONDO:equivalentTo"} +xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="Orphanet:898/attributed", source="Orphanet:898/ntbt"} +xref: MedDRA:10063383 {source="Orphanet:898", source="Orphanet:898/e"} +xref: MESH:C536075 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} +xref: OMIM:143200 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} xref: Orphanet:898 {source="MONDO:equivalentTo", source="OMIM:143200"} xref: SCTID:232064001 {source="MONDO:equivalentTo"} -xref: UMLS:C0339540 {source="ORDO:898/e", source="Orphanet:898", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1840452 {source="ORDO:898/e", source="Orphanet:898", source="MONDO:equivalentTo", source="OMIM:143200"} +xref: UMLS:C0339540 {source="Orphanet:898", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:898/e"} +xref: UMLS:C1840452 {source="Orphanet:898", source="MONDO:equivalentTo", source="OMIM:143200", source="Orphanet:898/e"} is_a: MONDO:0020208 {source="Orphanet:898"} ! syndromic myopia is_a: MONDO:0020248 {source="Orphanet:898"} ! vitreoretinal degeneration relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2464 {source="mim2gene_medgen"} ! VCAN @@ -139318,14 +139289,14 @@ name: congenital hydronephrosis def: "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." [Orphanet:2190] comment: Editor note: TODO check relationship to OMIM:143400 subset: ordo_morphological_anomaly {source="Orphanet:2190"} -xref: ICD10CM:Q62.0 {source="MONDO:equivalentTo", source="ORDO:2190/e", source="Orphanet:2190", source="ORDO:2190/specific"} +xref: ICD10CM:Q62.0 {source="MONDO:equivalentTo", source="Orphanet:2190/specific", source="Orphanet:2190", source="Orphanet:2190/e"} xref: ICD9:753.29 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050975 {source="ORDO:2190/e", source="Orphanet:2190"} +xref: MedDRA:10050975 {source="Orphanet:2190", source="Orphanet:2190/e"} xref: NCIT:C102979 {source="MONDO:equivalentTo"} xref: OMIM:143400 {source="MONDO:relatedTo", source="Orphanet:2190"} xref: Orphanet:2190 {source="MONDO:equivalentTo", source="OMIM:143400"} xref: SCTID:16297002 {source="MONDO:equivalentTo"} -xref: UMLS:C0266316 {source="NCIT:C102979", source="MONDO:equivalentTo", source="ORDO:2190/e", source="Orphanet:2190"} +xref: UMLS:C0266316 {source="NCIT:C102979", source="MONDO:equivalentTo", source="Orphanet:2190", source="Orphanet:2190/e"} is_a: MONDO:0005510 {source="NCIT:C102979", source="linkedlifedata"} ! hydronephrosis is_a: MONDO:0019720 {source="Orphanet:2190"} ! non-syndromic renal or urinary tract malformation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -139378,9 +139349,9 @@ synonym: "hyperalphalipoproteinemia" EXACT [OMIM:143470, OMIM:genemap2] synonym: "hyperalphalipoproteinemia 1" RELATED [MONDO:Lexical, OMIM:143470] synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1, OMIM:143470] xref: DOID:0111368 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.4 {source="Orphanet:79506", source="ORDO:79506/attributed", source="ORDO:79506/ntbt"} -xref: OMIM:143470 {source="ORDO:79506/e", source="Orphanet:79506", source="MONDO:equivalentTo"} -xref: OMIM:614028 {source="Orphanet:79506", source="MONDO:superClassOf", source="ORDO:79506/btnt"} +xref: ICD10CM:E78.4 {source="Orphanet:79506/attributed", source="Orphanet:79506/ntbt", source="Orphanet:79506"} +xref: OMIM:143470 {source="Orphanet:79506", source="MONDO:equivalentTo", source="Orphanet:79506/e"} +xref: OMIM:614028 {source="Orphanet:79506/btnt", source="Orphanet:79506", source="MONDO:superClassOf"} xref: Orphanet:79506 {source="OMIM:143470", source="MONDO:equivalentTo"} xref: SCTID:15771000119109 {source="MONDO:equivalentTo"} xref: UMLS:C0342883 {source="MONDO:subClassOf", source="Orphanet:79506", source="NCBI:mim2gene_medline"} @@ -139400,7 +139371,6 @@ def: "An autosomal recessive inherited disorder characterized by unconjugated hy synonym: "constitutional hyperbilirubinemia" EXACT [DOID:2739] synonym: "familial cholemia" EXACT [Orphanet:357] synonym: "Gilbert disease" EXACT [NCIT:C84729] -synonym: "Gilbert syndrome" EXACT [OMIM:143500] synonym: "Gilbert syndrome" EXACT [OMIM:143500, OMIM:genemap2] synonym: "Gilbert's disease" EXACT [DOID:2739] synonym: "Gilbert's syndrome" EXACT [DOID:2739] @@ -139473,7 +139443,7 @@ xref: OMIM:143870 {source="MONDO:equivalentTo"} xref: Orphanet:2197 {source="MONDO:subClassOf", source="OMIM:143870"} xref: SCTID:237886009 {source="MONDO:equivalentTo"} xref: UMLS:C0342639 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:143870"} -is_a: MONDO:0016352 {source="MONDO:Redundant", source="ORDO:2197/btnt"} ! idiopathic inherited hypercalciuria +is_a: MONDO:0016352 {source="MONDO:Redundant", source="Orphanet:2197/btnt"} ! idiopathic inherited hypercalciuria intersection_of: MONDO:0016352 ! idiopathic inherited hypercalciuria intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21285 ! ADCY10 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21285 {source="mim2gene_medgen"} ! ADCY10 @@ -139609,12 +139579,12 @@ synonym: "hyperkeratosis lenticularis perstans (disease)" EXACT [https://orcid.o synonym: "hyperkeratosis lenticularis perstans of Flegel" RELATED [GARD:0002824] xref: GARD:0002824 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0007570 {source="MONDO:otherHierarchy"} -xref: MedDRA:10071311 {source="ORDO:409/e", source="Orphanet:409"} -xref: MESH:C538377 {source="MONDO:equivalentTo", source="ORDO:409/e", source="Orphanet:409"} -xref: OMIM:144150 {source="MONDO:equivalentTo", source="ORDO:409/e", source="Orphanet:409"} +xref: MedDRA:10071311 {source="Orphanet:409", source="Orphanet:409/e"} +xref: MESH:C538377 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"} +xref: OMIM:144150 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"} xref: Orphanet:409 {source="OMIM:144150", source="MONDO:equivalentTo"} xref: SCTID:28488007 {source="MONDO:equivalentTo"} -xref: UMLS:C0263420 {source="OMIM:144150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:409/e", source="Orphanet:409"} +xref: UMLS:C0263420 {source="OMIM:144150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"} is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: confidence "3.666666666666667" xsd:double @@ -139626,9 +139596,9 @@ name: hyperkeratosis-hyperpigmentation syndrome def: "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." [Orphanet:1336] subset: ordo_disease {source="Orphanet:1336"} synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190] -xref: ICD10CM:Q82.8 {source="ORDO:1336/attributed", source="ORDO:1336/ntbt", source="Orphanet:1336"} +xref: ICD10CM:Q82.8 {source="Orphanet:1336", source="Orphanet:1336/attributed", source="Orphanet:1336/ntbt"} xref: MESH:C564172 {source="MONDO:equivalentTo"} -xref: OMIM:144190 {source="MONDO:equivalentTo", source="Orphanet:1336", source="ORDO:1336/e"} +xref: OMIM:144190 {source="MONDO:equivalentTo", source="Orphanet:1336", source="Orphanet:1336/e"} xref: Orphanet:1336 {source="MONDO:equivalentTo", source="OMIM:144190"} xref: UMLS:C1840428 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1336", source="OMIM:144190"} is_a: MONDO:0019289 {source="Orphanet:1336"} ! hyperpigmentation of the skin @@ -139660,17 +139630,17 @@ synonym: "Ppke" RELATED [OMIM:144200] synonym: "tylosis" RELATED [OMIM:144200] xref: DOID:0080223 {source="MONDO:equivalentTo"} xref: GARD:0002826 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:2199", source="ORDO:2199/attributed", source="ORDO:2199/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:2199", source="Orphanet:2199/attributed", source="Orphanet:2199/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C84693 {source="MONDO:equivalentTo"} -xref: OMIM:144200 {source="Orphanet:2199", source="ORDO:2199/e", source="MONDO:equivalentTo", source="DOID:0080223"} +xref: OMIM:144200 {source="Orphanet:2199", source="MONDO:equivalentTo", source="Orphanet:2199/e", source="DOID:0080223"} xref: Orphanet:2199 {source="MONDO:equivalentTo", source="OMIM:144200", source="GARD:0002826"} xref: SCTID:399955009 {source="MONDO:equivalentTo"} xref: UMLS:C0022584 {source="MONDO:subClassOf", source="OMIM:144200"} -xref: UMLS:C0343110 {source="Orphanet:2199", source="ORDO:2199/e", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1721006 {source="Orphanet:2199", source="ORDO:2199/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:144200", source="NCIT:C84693"} +xref: UMLS:C0343110 {source="Orphanet:2199", source="Orphanet:2199/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1721006 {source="Orphanet:2199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2199/e", source="OMIM:144200", source="NCIT:C84693"} xref: UMLS:C1840427 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:144200"} -xref: UMLS:C2931735 {source="Orphanet:2199", source="ORDO:2199/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931735 {source="Orphanet:2199", source="Orphanet:2199/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2936837 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:144200"} xref: UMLS:C3489771 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:144200"} is_a: MONDO:0006590 {source="DOID:0080223", source="NCIT:C84693", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! palmoplantar keratosis @@ -139767,15 +139737,15 @@ synonym: "mixed hyperlipemia" RELATED [GARD:0006704] synonym: "type V hyperlipoproteinemia" RELATED [GARD:0006704] xref: DOID:1171 {source="MONDO:equivalentTo"} xref: GARD:0006704 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.3 {source="Orphanet:70470", source="ORDO:70470/inclusion", source="ORDO:70470/ntbt"} -xref: MedDRA:10060755 {source="Orphanet:70470", source="ORDO:70470/e"} -xref: MESH:D006954 {source="Orphanet:70470", source="MONDO:equivalentTo", source="DOID:1171", source="ORDO:70470/e"} +xref: ICD10CM:E78.3 {source="Orphanet:70470", source="Orphanet:70470/ntbt", source="Orphanet:70470/inclusion"} +xref: MedDRA:10060755 {source="Orphanet:70470", source="Orphanet:70470/e"} +xref: MESH:D006954 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171"} xref: NCIT:C35645 {source="MONDO:otherHierarchy", source="DOID:1171"} -xref: OMIM:144650 {source="Orphanet:70470", source="MONDO:equivalentTo", source="DOID:1171", source="ORDO:70470/e"} +xref: OMIM:144650 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171"} xref: Orphanet:70470 {source="MONDO:equivalentTo", source="OMIM:144650"} xref: SCTID:190781009 {source="DOID:1171"} xref: SCTID:34349009 {source="MONDO:equivalentTo", source="DOID:1171"} -xref: UMLS:C0020481 {source="Orphanet:70470", source="NCBI:mim2gene_medline", source="OMIM:144650", source="MONDO:notFoundInDiseaseSubset", source="DOID:1171", source="ORDO:70470/e"} +xref: UMLS:C0020481 {source="Orphanet:70470", source="NCBI:mim2gene_medline", source="OMIM:144650", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:70470/e", source="DOID:1171"} xref: UMLS:C3489395 {source="OMIM:144650", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001336 {source="DC-OMIM:144650", source="DOID:1171", source="MESH:D006954/inferred"} ! familial hyperlipidemia is_a: MONDO:0015902 {source="Orphanet:70470"} ! major hypertriglyceridemia @@ -139801,7 +139771,7 @@ synonym: "renal cell carcinoma, clear cell, somatic" EXACT [OMIM:144700, OMIM:ge synonym: "renal cell carcinoma, nonpapillary" RELATED [MONDO:Lexical, OMIM:144700] synonym: "renal cell carcinoma, somatic" EXACT [OMIM:144700, OMIM:genemap2] xref: DOID:0050387 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="ORDO:319276/ntbt", source="Orphanet:319276"} +xref: ICD10CM:C64 {source="Orphanet:319276", source="Orphanet:319276/ntbt"} xref: OMIM:144700 {source="DOID:0050387", source="MONDO:equivalentTo"} xref: Orphanet:319276 {source="MONDO:superClassOf"} xref: Orphanet:422526 {source="MONDO:superClassOf", source="OMIM:144700"} @@ -139828,11 +139798,11 @@ synonym: "osteosclerosis, autosomal dominant, Worth type" RELATED [GARD:0000390] synonym: "Ostéosclérose autosomique dominante type Worth" EXACT [Orphanet:2790] synonym: "Worth syndrome" EXACT [Orphanet:2790] xref: GARD:0000390 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.2 {source="ORDO:2790/attributed", source="ORDO:2790/ntbt", source="Orphanet:2790"} -xref: OMIM:144750 {source="MONDO:equivalentTo", source="ORDO:2790/e", source="Orphanet:2790"} +xref: ICD10CM:Q78.2 {source="Orphanet:2790/attributed", source="Orphanet:2790/ntbt", source="Orphanet:2790"} +xref: OMIM:144750 {source="Orphanet:2790/e", source="MONDO:equivalentTo", source="Orphanet:2790"} xref: Orphanet:2790 {source="MONDO:equivalentTo", source="OMIM:144750"} -xref: UMLS:C0432273 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:144750", source="ORDO:2790/e", source="Orphanet:2790"} -xref: UMLS:C2931308 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2790/e", source="Orphanet:2790"} +xref: UMLS:C0432273 {source="NCBI:mim2gene_medline", source="Orphanet:2790/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:144750", source="Orphanet:2790"} +xref: UMLS:C2931308 {source="Orphanet:2790/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2790"} is_a: MONDO:0005381 {source="Orphanet:2790", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6697 {source="mim2gene_medgen"} ! LRP5 relationship: disease_has_feature HP:0011001 {source="Orphanet:2790"} ! Increased bone mineral density @@ -139849,9 +139819,9 @@ synonym: "hyperostosis cranalis interna" EXACT [OMIM:144755, OMIM:genemap2] synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755] synonym: "hyperostosis cranialis interna (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0005890 {source="MONDO:otherHierarchy"} -xref: ICD10CM:M85.2 {source="ORDO:443098/attributed", source="ORDO:443098/ntbt", source="Orphanet:443098"} +xref: ICD10CM:M85.2 {source="Orphanet:443098/attributed", source="Orphanet:443098/ntbt", source="Orphanet:443098"} xref: MESH:C564168 {source="MONDO:equivalentTo"} -xref: OMIM:144755 {source="MONDO:equivalentTo", source="ORDO:443098/e", source="Orphanet:443098"} +xref: OMIM:144755 {source="Orphanet:443098/e", source="MONDO:equivalentTo", source="Orphanet:443098"} xref: Orphanet:443098 {source="MONDO:equivalentTo"} xref: UMLS:C1840404 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:144755", source="Orphanet:443098"} is_a: MONDO:0019589 {source="Orphanet:443098"} ! syndromic genetic hearing loss @@ -139872,10 +139842,10 @@ synonym: "hyperostosis frontalis interna, obesity, shortness and cognitive impai synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800] synonym: "MSM syndrome" RELATED [GARD:0008593] xref: GARD:0008593 {source="MONDO:equivalentTo"} -xref: ICD10CM:M85.2 {source="ORDO:77296/ntbt", source="ORDO:77296/index", source="Orphanet:77296"} +xref: ICD10CM:M85.2 {source="Orphanet:77296", source="Orphanet:77296/ntbt", source="Orphanet:77296/index"} xref: MESH:D006957 {source="MONDO:equivalentTo"} xref: NCIT:C84772 {source="MONDO:equivalentTo"} -xref: OMIM:144800 {source="MONDO:equivalentTo", source="ORDO:77296/e", source="Orphanet:77296"} +xref: OMIM:144800 {source="Orphanet:77296/e", source="MONDO:equivalentTo", source="Orphanet:77296"} xref: Orphanet:77296 {source="MONDO:equivalentTo", source="OMIM:144800"} xref: SCTID:82054006 {source="MONDO:equivalentTo"} xref: UMLS:C0020494 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77296", source="NCIT:C84772", source="OMIM:144800"} @@ -139900,7 +139870,7 @@ xref: Orphanet:99879 {source="MONDO:subClassOf", source="OMIM:145000"} xref: UMLS:C1840402 {source="OMIM:145000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C1840403 {source="MONDO:relatedTo", source="OMIM:145000"} is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:145000", source="indirect"} ! hyperparathyroidism -is_a: MONDO:0015027 {source="ORDO:99879/btnt"} ! familial isolated hyperparathyroidism +is_a: MONDO:0015027 {source="Orphanet:99879/btnt"} ! familial isolated hyperparathyroidism relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.2656249999999998" xsd:double @@ -139924,9 +139894,9 @@ synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [OMIM:1450 synonym: "parathyroid adenoma with cystic changes" EXACT [OMIM:145001, OMIM:genemap2] synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001] xref: GARD:0010829 {source="MONDO:equivalentTo"} -xref: ICD10CM:E21.0 {source="ORDO:99880/attributed", source="ORDO:99880/ntbt", source="Orphanet:99880"} +xref: ICD10CM:E21.0 {source="Orphanet:99880/attributed", source="Orphanet:99880/ntbt", source="Orphanet:99880"} xref: NCIT:C48287 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:145001 {source="MONDO:equivalentTo", source="ORDO:99880/e", source="Orphanet:99880"} +xref: OMIM:145001 {source="Orphanet:99880/e", source="MONDO:equivalentTo", source="Orphanet:99880"} xref: Orphanet:99880 {source="MONDO:equivalentTo", source="OMIM:145001"} xref: SCTID:702378002 {source="MONDO:equivalentTo"} xref: UMLS:C1704981 {source="NCIT:C48287", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145001", source="Orphanet:99880"} @@ -139982,7 +139952,7 @@ xref: Orphanet:280628 {source="OMIM:145250", source="MONDO:superClassOf"} xref: Orphanet:79146 {source="MONDO:subClassOf", source="OMIM:145250"} xref: UMLS:C1835039 {source="MONDO:equivalentTo"} xref: UMLS:C1840392 {source="MONDO:subClassOf", source="OMIM:145250", source="NCBI:mim2gene_medline"} -is_a: MONDO:0013648 {source="ORDO:79146/btnt"} ! familial progressive hyperpigmentation +is_a: MONDO:0013648 {source="Orphanet:79146/btnt"} ! familial progressive hyperpigmentation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6343 {source="mim2gene_medgen"} ! KITLG relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.6470588235294126" xsd:double @@ -139996,8 +139966,8 @@ synonym: "hyperpotassemia and hypertension, familial" RELATED [OMIM:145260] synonym: "hypertensive hyperkalemia, familial" RELATED [OMIM:145260] synonym: "PHA2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145260, Orphanet:88938] synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260] -xref: ICD10CM:I15.1 {source="ORDO:88938/attributed", source="ORDO:88938/ntbt", source="Orphanet:88938"} -xref: OMIM:145260 {source="MONDO:equivalentTo", source="ORDO:88938/e", source="Orphanet:88938"} +xref: ICD10CM:I15.1 {source="Orphanet:88938/attributed", source="Orphanet:88938/ntbt", source="Orphanet:88938"} +xref: OMIM:145260 {source="Orphanet:88938/e", source="MONDO:equivalentTo", source="Orphanet:88938"} xref: Orphanet:757 {source="MONDO:subClassOf", source="OMIM:145260"} xref: Orphanet:88938 {source="OMIM:145260", source="MONDO:equivalentTo"} xref: SCTID:703254001 {source="MONDO:equivalentTo"} @@ -140113,8 +140083,8 @@ synonym: "Opitz-Frias syndrome" RELATED [OMIM:145410] synonym: "Opitz-G syndrome, type 2" RELATED [OMIM:145410] synonym: "telecanthus with associated abnormalities" RELATED [OMIM:145410] synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:145410] -xref: ICD10CM:Q87.8 {source="ORDO:306588/attributed", source="ORDO:306588/ntbt", source="Orphanet:306588"} -xref: OMIM:145410 {source="MONDO:equivalentTo", source="ORDO:306588/e", source="Orphanet:306588"} +xref: ICD10CM:Q87.8 {source="Orphanet:306588/attributed", source="Orphanet:306588/ntbt", source="Orphanet:306588"} +xref: OMIM:145410 {source="Orphanet:306588/e", source="MONDO:equivalentTo", source="Orphanet:306588"} xref: Orphanet:2745 {source="MONDO:subClassOf", source="OMIM:145410"} xref: Orphanet:306588 {source="MONDO:equivalentTo", source="OMIM:145410"} xref: UMLS:C1801950 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:145410"} @@ -140137,8 +140107,8 @@ synonym: "Teebi hypertelorism syndrome" EXACT [Orphanet:1519] synonym: "Teebi hypertelorism syndrome 1" EXACT [OMIM:145420, OMIM:genemap2] synonym: "Teebi syndrome" EXACT [Orphanet:1519] xref: GARD:0000957 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:1519/attributed", source="ORDO:1519/ntbt", source="Orphanet:1519"} -xref: OMIM:145420 {source="MONDO:equivalentTo", source="ORDO:1519/e", source="Orphanet:1519"} +xref: ICD10CM:Q87.0 {source="Orphanet:1519/attributed", source="Orphanet:1519/ntbt", source="Orphanet:1519"} +xref: OMIM:145420 {source="Orphanet:1519/e", source="MONDO:equivalentTo", source="Orphanet:1519"} xref: Orphanet:1519 {source="MONDO:equivalentTo", source="OMIM:145420"} xref: SCTID:724284005 {source="MONDO:equivalentTo"} xref: UMLS:C0796179 {source="MONDO:equivalentTo"} @@ -140236,9 +140206,9 @@ synonym: "pituitary resistance to thyroid hormone" RELATED [Orphanet:165994] synonym: "PRTH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145650, PMID:8475937] synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical, OMIM:145650] xref: DOID:0111374 {source="MONDO:equivalentTo"} -xref: ICD10CM:E05.8 {source="ORDO:165994/attributed", source="ORDO:165994/ntbt", source="Orphanet:165994"} +xref: ICD10CM:E05.8 {source="Orphanet:165994", source="Orphanet:165994/attributed", source="Orphanet:165994/ntbt"} xref: MESH:C564154 {source="MONDO:equivalentTo"} -xref: OMIM:145650 {source="ORDO:165994/e", source="MONDO:equivalentTo", source="Orphanet:165994"} +xref: OMIM:145650 {source="MONDO:equivalentTo", source="Orphanet:165994", source="Orphanet:165994/e"} xref: Orphanet:165994 {source="MONDO:equivalentObsolete", source="OMIM:145650"} xref: UMLS:C1840364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145650", source="Orphanet:165994"} is_a: MONDO:0001328 {source="DC-OMIM:145650", source="MONDO:cjm", source="PMID:8475937"} ! thyroid hormone resistance syndrome @@ -140286,9 +140256,9 @@ synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexi synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701] xref: DOID:0111060 {source="MONDO:equivalentTo"} xref: GARD:0008206 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q84.2 {source="Orphanet:1023", source="DOID:0111060", source="ORDO:1023/attributed", source="ORDO:1023/ntbt"} -xref: MESH:C536605 {source="ORDO:1023/e", source="Orphanet:1023", source="DOID:0111060"} -xref: OMIM:145701 {source="ORDO:1023/e", source="Orphanet:1023", source="DOID:0111060", source="MONDO:equivalentTo"} +xref: ICD10CM:Q84.2 {source="Orphanet:1023/attributed", source="Orphanet:1023/ntbt", source="Orphanet:1023", source="DOID:0111060"} +xref: MESH:C536605 {source="Orphanet:1023", source="DOID:0111060", source="Orphanet:1023/e"} +xref: OMIM:145701 {source="Orphanet:1023", source="DOID:0111060", source="MONDO:equivalentTo", source="Orphanet:1023/e"} xref: Orphanet:1023 {source="DOID:0111060", source="MONDO:equivalentTo", source="OMIM:145701"} xref: Orphanet:2222 {source="MONDO:subClassOf", source="OMIM:145701"} xref: UMLS:C1840362 {source="Orphanet:1023", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145701"} @@ -140344,13 +140314,13 @@ synonym: "hypertrophic neuropathy of Dejerine-Sottas" EXACT [NCIT:C133087, OMIM: synonym: "hypertrophic neuropathy of infancy" RELATED [GARD:0009204] xref: DOID:0050540 {source="MONDO:equivalentTo"} xref: GARD:0009204 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:64748/attributed", source="ORDO:64748/ntbt", source="Orphanet:64748"} -xref: MESH:C538392 {source="ORDO:64748/e", source="Orphanet:64748"} +xref: ICD10CM:G60.0 {source="Orphanet:64748", source="Orphanet:64748/attributed", source="Orphanet:64748/ntbt"} +xref: MESH:C538392 {source="Orphanet:64748", source="Orphanet:64748/e"} xref: NCIT:C133087 {source="MONDO:equivalentTo"} -xref: OMIM:145900 {source="DOID:0050540", source="MONDO:equivalentTo", source="ORDO:64748/e", source="Orphanet:64748"} +xref: OMIM:145900 {source="DOID:0050540", source="MONDO:equivalentTo", source="Orphanet:64748", source="Orphanet:64748/e"} xref: Orphanet:64748 {source="MONDO:equivalentTo", source="OMIM:145900"} xref: SCTID:111499002 {source="MONDO:equivalentTo"} -xref: UMLS:C0011195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C133087", source="ORDO:64748/e", source="Orphanet:64748", source="OMIM:145900"} +xref: UMLS:C0011195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C133087", source="Orphanet:64748", source="Orphanet:64748/e", source="OMIM:145900"} is_a: MONDO:0015626 {source="DOID:0050540", source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-Tooth disease relationship: excluded_subClassOf MONDO:0015359 {source="Orphanet:64748"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy relationship: excluded_subClassOf MONDO:0015361 {source="Orphanet:64748"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy @@ -140381,15 +140351,15 @@ synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796, synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical, OMIM:145980] xref: DOID:0060700 {source="MONDO:equivalentTo"} xref: GARD:0002796 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.5 {source="Orphanet:93372", source="DOID:0060700", source="ORDO:93372/attributed", source="ORDO:93372/ntbt"} -xref: MedDRA:10068704 {source="Orphanet:93372", source="ORDO:93372/e"} -xref: MESH:C537145 {source="Orphanet:93372", source="MONDO:equivalentTo", source="ORDO:93372/e"} -xref: OMIM:145980 {source="Orphanet:93372", source="MONDO:equivalentTo", source="DOID:0060700", source="ORDO:93372/e"} +xref: ICD10CM:E83.5 {source="Orphanet:93372", source="Orphanet:93372/attributed", source="Orphanet:93372/ntbt", source="DOID:0060700"} +xref: MedDRA:10068704 {source="Orphanet:93372", source="Orphanet:93372/e"} +xref: MESH:C537145 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e"} +xref: OMIM:145980 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e", source="DOID:0060700"} xref: Orphanet:405 {source="MONDO:subClassOf", source="OMIM:145980"} xref: Orphanet:93372 {source="MONDO:equivalentTo", source="OMIM:145980", source="DOID:0060700"} xref: SCTID:704166007 {source="MONDO:equivalentTo"} -xref: UMLS:C0342637 {source="MONDO:subClassOf", source="Orphanet:93372", source="OMIM:145980", source="ORDO:93372/e"} -xref: UMLS:C1809471 {source="MONDO:subClassOf", source="Orphanet:93372", source="NCBI:mim2gene_medline", source="ORDO:93372/e"} +xref: UMLS:C0342637 {source="MONDO:subClassOf", source="Orphanet:93372", source="OMIM:145980", source="Orphanet:93372/e"} +xref: UMLS:C1809471 {source="MONDO:subClassOf", source="Orphanet:93372", source="NCBI:mim2gene_medline", source="Orphanet:93372/e"} xref: UMLS:C1840348 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:145980"} is_a: MONDO:0018458 {source="DC-OMIM:145980", source="DOID:0060700", source="MONDO:Redundant", source="OMIM:145980", source="Orphanet:93372"} ! familial hypocalciuric hypercalcemia intersection_of: MONDO:0018458 ! familial hypocalciuric hypercalcemia @@ -140415,13 +140385,13 @@ synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758, synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical, OMIM:145981] xref: DOID:0060701 {source="MONDO:equivalentTo"} xref: GARD:0009758 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.5 {source="Orphanet:101049", source="ORDO:101049/attributed", source="ORDO:101049/ntbt", source="DOID:0060701"} -xref: MESH:C537146 {source="Orphanet:101049", source="ORDO:101049/e", source="MONDO:equivalentTo"} -xref: OMIM:145981 {source="Orphanet:101049", source="ORDO:101049/e", source="MONDO:equivalentTo", source="DOID:0060701"} +xref: ICD10CM:E83.5 {source="Orphanet:101049/attributed", source="Orphanet:101049/ntbt", source="Orphanet:101049", source="DOID:0060701"} +xref: MESH:C537146 {source="Orphanet:101049", source="MONDO:equivalentTo", source="Orphanet:101049/e"} +xref: OMIM:145981 {source="Orphanet:101049", source="MONDO:equivalentTo", source="DOID:0060701", source="Orphanet:101049/e"} xref: Orphanet:101049 {source="MONDO:equivalentTo", source="OMIM:145981", source="DOID:0060701"} xref: Orphanet:405 {source="MONDO:subClassOf", source="OMIM:145981"} xref: UMLS:C1840347 {source="Orphanet:101049", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:145981"} -xref: UMLS:C2931427 {source="Orphanet:101049", source="ORDO:101049/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931427 {source="Orphanet:101049", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:101049/e"} is_a: MONDO:0018458 {source="DC-OMIM:145981", source="DOID:0060701", source="OMIM:145981", source="Orphanet:101049"} ! familial hypocalciuric hypercalcemia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "4.999999999999999" xsd:double @@ -140436,15 +140406,15 @@ synonym: "HCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146000] synonym: "hypochondroplasia" EXACT [MONDO:Lexical, OMIM:146000] xref: DOID:0080041 {source="MONDO:equivalentTo"} xref: GARD:0006724 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.4 {source="ORDO:429/ntbt", source="Orphanet:429", source="ORDO:429/inclusion", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q77.4 {source="Orphanet:429/inclusion", source="Orphanet:429", source="MONDO:directSiblingOf", source="Orphanet:429/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10020967 {source="ORDO:429/e", source="Orphanet:429"} +xref: MedDRA:10020967 {source="Orphanet:429", source="Orphanet:429/e"} xref: MESH:C562937 {source="MONDO:equivalentTo"} xref: NCIT:C118697 {source="MONDO:equivalentTo"} -xref: OMIM:146000 {source="ORDO:429/e", source="MONDO:equivalentTo", source="Orphanet:429"} +xref: OMIM:146000 {source="MONDO:equivalentTo", source="Orphanet:429", source="Orphanet:429/e"} xref: Orphanet:429 {source="OMIM:146000", source="MONDO:equivalentTo"} xref: SCTID:205468002 {source="MONDO:equivalentTo"} -xref: UMLS:C0410529 {source="NCBI:mim2gene_medline", source="NCIT:C118697", source="OMIM:146000", source="ORDO:429/e", source="MONDO:equivalentTo", source="Orphanet:429"} +xref: UMLS:C0410529 {source="NCBI:mim2gene_medline", source="NCIT:C118697", source="OMIM:146000", source="MONDO:equivalentTo", source="Orphanet:429", source="Orphanet:429/e"} is_a: MONDO:0005516 {source="DOID:0080041", source="NCIT:C118697"} ! osteochondrodysplasia is_a: MONDO:0019685 {source="Orphanet:429"} ! FGFR3-related chondrodysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 @@ -140500,11 +140470,11 @@ synonym: "limb-uterus syndrome" RELATED [OMIM:146160] synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [Orphanet:2491] synonym: "severe upper limb hypoplasia and Mullerian duct anomalies" RELATED [GARD:0002908] xref: GARD:0002908 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2491/attributed", source="ORDO:2491/ntbt", source="Orphanet:2491"} +xref: ICD10CM:Q87.8 {source="Orphanet:2491/attributed", source="Orphanet:2491/ntbt", source="Orphanet:2491"} xref: MESH:C537155 {source="MONDO:equivalentTo"} -xref: OMIM:146160 {source="MONDO:equivalentTo", source="ORDO:2491/e", source="Orphanet:2491"} +xref: OMIM:146160 {source="Orphanet:2491/e", source="MONDO:equivalentTo", source="Orphanet:2491"} xref: Orphanet:2491 {source="MONDO:equivalentTo", source="OMIM:146160"} -xref: UMLS:C1840335 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2491/e", source="Orphanet:2491", source="OMIM:146160"} +xref: UMLS:C1840335 {source="Orphanet:2491/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2491", source="OMIM:146160"} is_a: MONDO:0015161 {source="Orphanet:2491", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2491"} ! syndromic urogenital tract malformation is_a: MONDO:0015846 {source="Orphanet:2491"} ! syndromic uterovaginal malformation @@ -140531,7 +140501,7 @@ xref: SCTID:237657009 {source="MONDO:equivalentTo"} xref: UMLS:C0342345 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:146200"} xref: UMLS:C1832648 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="GARD:0002910", source="OMIM:146200"} xref: UMLS:C1840334 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:146200"} -is_a: MONDO:0016390 {source="ORDO:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism +is_a: MONDO:0016390 {source="Orphanet:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism intersection_of: MONDO:0016390 ! familial hypoparathyroidism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9606 ! PTH relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9606 ! PTH @@ -140552,13 +140522,13 @@ synonym: "hypoparathyroidism-deafness-renal disease syndrome" EXACT CLINGEN_PREF synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [OMIM:146255] xref: DOID:0060878 {source="MONDO:equivalentTo"} xref: GARD:0002911 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2237/attributed", source="ORDO:2237/ntbt", source="Orphanet:2237", source="DOID:0060878"} +xref: ICD10CM:Q87.8 {source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/attributed", source="Orphanet:2237/ntbt"} xref: MESH:C537907 {source="MONDO:equivalentTo"} xref: NCIT:C130983 {source="MONDO:equivalentTo"} -xref: OMIM:146255 {source="ORDO:2237/e", source="MONDO:equivalentTo", source="Orphanet:2237", source="DOID:0060878"} +xref: OMIM:146255 {source="MONDO:equivalentTo", source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/e"} xref: Orphanet:2237 {source="MONDO:equivalentTo", source="OMIM:146255", source="DOID:0060878"} xref: SCTID:724282009 {source="MONDO:equivalentTo"} -xref: UMLS:C1840333 {source="ORDO:2237/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146255", source="Orphanet:2237", source="DOID:0060878", source="NCIT:C130983"} +xref: UMLS:C1840333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146255", source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/e", source="NCIT:C130983"} is_a: MONDO:0000761 {source="DOID:0060878"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130983", source="indirect"} ! syndromic disease is_a: MONDO:0016892 {source="Orphanet:2237"} ! partial deletion of the short arm of chromosome 10 @@ -140581,13 +140551,13 @@ synonym: "mild hypophosphatasia" EXACT [DOID:0110913] synonym: "obsolete adult hypophosphatasia" EXACT CLINGEN_PREFERRED [] synonym: "odontohypophosphatasia" RELATED [OMIM:146300] xref: DOID:0110913 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247676", source="ORDO:247676/attributed", source="ORDO:247676/ntbt"} -xref: OMIM:146300 {source="ORDO:247676/e", source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913"} +xref: ICD10CM:E83.3 {source="Orphanet:247676/attributed", source="Orphanet:247676/ntbt", source="MONDO:relatedTo", source="Orphanet:247676"} +xref: OMIM:146300 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913", source="Orphanet:247676/e"} xref: Orphanet:247676 {source="MONDO:obsoleteEquivalent", source="OMIM:146300", source="DOID:0110913"} xref: Orphanet:247685 {source="OMIM:146300", source="MONDO:superClassOf"} xref: Orphanet:436 {source="MONDO:subClassOf", source="OMIM:146300"} xref: SCTID:20756002 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0268413 {source="ORDO:247676/e", source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:146300"} +xref: UMLS:C0268413 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:146300", source="Orphanet:247676/e"} xref: UMLS:C1840322 {source="OMIM:146300", source="MONDO:superClassOf"} property_value: confidence "2.0000000000000004" xsd:double property_value: IAO:0000231 "out of scope" xsd:string @@ -140628,17 +140598,17 @@ synonym: "partial monosomy of chromosome 18p" EXACT [Orphanet:261974] synonym: "partial monosomy of the short arm of chromosome 18" EXACT [Orphanet:261974] xref: DOID:0060406 {source="MONDO:equivalentTo"} xref: GARD:0008631 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:261974/attributed", source="ORDO:261974/ntbt", source="Orphanet:1598", source="ORDO:1598/attributed", source="ORDO:1598/ntbt", source="Orphanet:261974"} +xref: ICD10CM:Q93.5 {source="Orphanet:1598/attributed", source="Orphanet:1598/ntbt", source="Orphanet:1598", source="Orphanet:261974", source="Orphanet:261974/attributed", source="Orphanet:261974/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538309 {source="MONDO:equivalentTo", source="DOID:0060406"} xref: NCIT:C84521 {source="MONDO:equivalentTo", source="DOID:0060406"} -xref: OMIM:146390 {source="Orphanet:1598", source="ORDO:1598/e", source="MONDO:equivalentTo", source="DOID:0060406"} +xref: OMIM:146390 {source="Orphanet:1598", source="MONDO:equivalentTo", source="DOID:0060406", source="Orphanet:1598/e"} xref: Orphanet:1598 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060406", source="OMIM:146390"} xref: Orphanet:261974 {source="MONDO:equivalentTo"} xref: SCTID:205631008 {source="DOID:0060406"} xref: SCTID:205632001 {source="DOID:0060406"} xref: SCTID:270890001 {source="MONDO:equivalentTo", source="DOID:0060406"} -xref: UMLS:C0432442 {source="Orphanet:1598", source="NCBI:mim2gene_medline", source="ORDO:1598/e", source="MONDO:equivalentTo", source="DOID:0060406", source="NCIT:C84521", source="OMIM:146390"} +xref: UMLS:C0432442 {source="Orphanet:1598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060406", source="Orphanet:1598/e", source="NCIT:C84521", source="OMIM:146390"} is_a: MONDO:0000761 {source="DC-OMIM:146390", source="DOID:0060406"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84521", source="indirect"} ! syndromic disease is_a: MONDO:0016880 {source="Orphanet:261974"} ! partial deletion of chromosome 18 @@ -140688,19 +140658,19 @@ synonym: "susceptibility to multiple system atrophy 1" RELATED [OMIM:146500] xref: DOID:4752 {source="MONDO:equivalentTo"} xref: EFO:1001050 {source="MONDO:equivalentTo"} xref: GARD:0007079 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G90.3 {source="ORDO:102/e", source="Orphanet:102"} -xref: MedDRA:10064060 {source="ORDO:102/e", source="Orphanet:102"} +xref: ICD10CM:G90.3 {source="Orphanet:102/e", source="Orphanet:102"} +xref: MedDRA:10064060 {source="Orphanet:102/e", source="Orphanet:102"} xref: MESH:D012791 {source="DOID:4752"} -xref: MESH:D019578 {source="DOID:4752", source="MONDO:equivalentTo", source="ORDO:102/e", source="Orphanet:102"} +xref: MESH:D019578 {source="DOID:4752", source="Orphanet:102/e", source="MONDO:equivalentTo", source="Orphanet:102"} xref: NCIT:C84909 {source="DOID:4752", source="MONDO:equivalentTo"} xref: NCIT:C85066 {source="DOID:4752"} -xref: OMIM:146500 {source="DOID:4752", source="MONDO:relatedTo", source="ORDO:102/e", source="Orphanet:102"} +xref: OMIM:146500 {source="DOID:4752", source="MONDO:relatedTo", source="Orphanet:102/e", source="Orphanet:102"} xref: Orphanet:102 {source="MONDO:equivalentTo", source="OMIM:146500"} xref: SCTID:16576004 {source="DOID:4752"} xref: SCTID:230297002 {source="DOID:4752"} xref: UMLS:C0020651 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:146500"} xref: UMLS:C0037019 {source="DOID:4752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -xref: UMLS:C0393571 {source="DOID:4752", source="MONDO:equivalentTo", source="NCIT:C84909", source="ORDO:102/e", source="Orphanet:102"} +xref: UMLS:C0393571 {source="DOID:4752", source="Orphanet:102/e", source="MONDO:equivalentTo", source="NCIT:C84909", source="Orphanet:102"} xref: UMLS:C0393911 {source="MONDO:superClassOf", source="OMIM:146500"} xref: UMLS:C3714927 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:146500"} is_a: MONDO:0000510 {source="DOID:4752", source="PMID:24262191"} ! synucleinopathy @@ -140724,14 +140694,14 @@ synonym: "Pallister-Hall syndrome" EXACT [MONDO:Lexical, OMIM:146510] synonym: "PHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146510] xref: DOID:9248 {source="MONDO:equivalentTo"} xref: GARD:0007305 {source="MONDO:equivalentTo"} -xref: ICD10CM:D33.0 {source="ORDO:672/attributed", source="ORDO:672/ntbt", source="Orphanet:672"} +xref: ICD10CM:D33.0 {source="Orphanet:672/attributed", source="Orphanet:672/ntbt", source="Orphanet:672"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D054975 {source="DOID:9248", source="MONDO:equivalentTo", source="ORDO:672/e", source="Orphanet:672"} +xref: MESH:D054975 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"} xref: NCIT:C84987 {source="DOID:9248", source="MONDO:equivalentTo"} -xref: OMIM:146510 {source="DOID:9248", source="MONDO:equivalentTo", source="ORDO:672/e", source="Orphanet:672"} +xref: OMIM:146510 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"} xref: Orphanet:672 {source="MONDO:equivalentTo", source="OMIM:146510"} xref: SCTID:56677004 {source="DOID:9248", source="MONDO:equivalentTo"} -xref: UMLS:C0265220 {source="DOID:9248", source="NCIT:C84987", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146510", source="ORDO:672/e", source="Orphanet:672"} +xref: UMLS:C0265220 {source="DOID:9248", source="Orphanet:672/e", source="NCIT:C84987", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146510", source="Orphanet:672"} xref: UMLS:C0342418 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:672"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84987", source="indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:672", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -140764,7 +140734,7 @@ xref: OMIM:146520 {source="DOID:0110699", source="MONDO:equivalentTo"} xref: Orphanet:90368 {source="MONDO:subClassOf", source="OMIM:146520"} xref: UMLS:C1840299 {source="NCBI:mim2gene_medline", source="OMIM:146520", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003037 {source="DC-OMIM:146520", source="DOID:0110699", source="MESH:C564143", source="MONDO:Redundant", source="OMIM:146520", source="OMIM:146520/inferred"} ! hypotrichosis -is_a: MONDO:0019575 {source="ORDO:90368/btnt"} ! hypotrichosis simplex of the scalp +is_a: MONDO:0019575 {source="Orphanet:90368/btnt"} ! hypotrichosis simplex of the scalp intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1802 ! CDSN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1802 {source="mim2gene_medgen"} ! CDSN @@ -140790,7 +140760,7 @@ xref: OMIM:146550 {source="DOID:0110701", source="MONDO:equivalentTo"} xref: Orphanet:444 {source="MONDO:subClassOf", source="OMIM:146550"} xref: UMLS:C2750815 {source="NCBI:mim2gene_medline", source="OMIM:146550", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110701", source="MESH:C567718", source="MONDO:Redundant", source="OMIM:146550", source="indirect"} ! hypotrichosis -is_a: MONDO:0018631 {source="ORDO:444/btnt"} ! Marie Unna hereditary hypotrichosis +is_a: MONDO:0018631 {source="Orphanet:444/btnt"} ! Marie Unna hereditary hypotrichosis intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5172 ! HR relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5172 {source="mim2gene_medgen"} ! HR @@ -140816,14 +140786,14 @@ synonym: "ichthyosis HYSTRIX, Curth-Macklin type" RELATED [MONDO:Lexical, OMIM:1 synonym: "ichthyosis hystrix, Curth-Macklin type" EXACT [Orphanet:79503] synonym: "IHCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146590] xref: GARD:0002954 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q80.8 {source="Orphanet:79503", source="ORDO:79503/attributed", source="ORDO:79503/ntbt"} +xref: ICD10CM:Q80.8 {source="Orphanet:79503/attributed", source="Orphanet:79503/ntbt", source="Orphanet:79503"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536088 {source="Orphanet:79503", source="MONDO:equivalentTo", source="ORDO:79503/e"} -xref: OMIM:146590 {source="Orphanet:79503", source="MONDO:equivalentTo", source="ORDO:79503/e"} +xref: MESH:C536088 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"} +xref: OMIM:146590 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"} xref: Orphanet:79503 {source="OMIM:146590", source="MONDO:equivalentTo"} xref: SCTID:254170001 {source="MONDO:equivalentTo"} -xref: UMLS:C0432307 {source="Orphanet:79503", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79503/e"} -xref: UMLS:C1840296 {source="OMIM:146590", source="Orphanet:79503", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79503/e"} +xref: UMLS:C0432307 {source="Orphanet:79503", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79503/e"} +xref: UMLS:C1840296 {source="OMIM:146590", source="Orphanet:79503", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79503/e"} is_a: MONDO:0017266 {source="Orphanet:79503"} ! keratinopathic ichthyosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6412 {source="mim2gene_medgen"} ! KRT1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -140839,13 +140809,13 @@ synonym: "ichthyosis, Lambert type" EXACT [OMIM:146600, Orphanet:79504] synonym: "Lambert type ichthyosis" RELATED [GARD:0009497] synonym: "porcupine Man" RELATED [OMIM:146600] xref: GARD:0009497 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q80.0 {source="Orphanet:79504", source="MONDO:relatedTo", source="ORDO:79504/attributed", source="ORDO:79504/ntbt"} +xref: ICD10CM:Q80.0 {source="Orphanet:79504", source="MONDO:relatedTo", source="Orphanet:79504/attributed", source="Orphanet:79504/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536087 {source="ORDO:79504/e", source="Orphanet:79504", source="MONDO:equivalentTo"} -xref: OMIM:146600 {source="ORDO:79504/e", source="Orphanet:79504", source="MONDO:equivalentTo"} +xref: MESH:C536087 {source="Orphanet:79504", source="MONDO:equivalentTo", source="Orphanet:79504/e"} +xref: OMIM:146600 {source="Orphanet:79504", source="MONDO:equivalentTo", source="Orphanet:79504/e"} xref: Orphanet:79504 {source="MONDO:equivalentTo", source="OMIM:146600"} xref: SCTID:254174005 {source="MONDO:equivalentTo"} -xref: UMLS:C0432311 {source="ORDO:79504/e", source="Orphanet:79504", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:146600"} +xref: UMLS:C0432311 {source="Orphanet:79504", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79504/e", source="OMIM:146600"} is_a: MONDO:0017266 {source="Orphanet:79504"} ! keratinopathic ichthyosis property_value: confidence "5.388888888888888" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior xsd:anyURI {source="GARD:0009497"} @@ -140896,11 +140866,11 @@ synonym: "ichthyosis--cheek--eyebrow syndrome" RELATED [OMIM:146720] synonym: "Sidransky Feinstein Goodman syndrome" RELATED [GARD:0002947] synonym: "Sidransky-Feinstein-Goodman syndrome" EXACT [Orphanet:2267] xref: GARD:0002947 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536084 {source="Orphanet:2267", source="ORDO:2267/e", source="MONDO:equivalentTo"} -xref: OMIM:146720 {source="Orphanet:2267", source="ORDO:2267/e", source="MONDO:equivalentTo"} +xref: MESH:C536084 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"} +xref: OMIM:146720 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"} xref: Orphanet:2267 {source="MONDO:equivalentTo", source="OMIM:146720"} xref: SCTID:716097001 {source="MONDO:equivalentTo"} -xref: UMLS:C1840283 {source="Orphanet:2267", source="ORDO:2267/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:146720"} +xref: UMLS:C1840283 {source="Orphanet:2267", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:146720", source="Orphanet:2267/e"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome property_value: confidence "3.7222222222222223" xsd:double @@ -140937,13 +140907,13 @@ synonym: "SEI" EXACT ABBREVIATION [Orphanet:455, PMID:20643494] synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, PMID:20643494] xref: DOID:0060877 {source="MONDO:equivalentTo"} xref: GARD:0002966 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q80.8 {source="Orphanet:455", source="DOID:0060877", source="ORDO:455/attributed", source="ORDO:455/ntbt"} -xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="DOID:0060877", source="ORDO:455/e"} +xref: ICD10CM:Q80.8 {source="Orphanet:455", source="Orphanet:455/attributed", source="Orphanet:455/ntbt", source="DOID:0060877"} +xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} xref: NCIT:C84777 {source="MONDO:equivalentTo"} -xref: OMIM:146800 {source="Orphanet:455", source="MONDO:equivalentTo", source="DOID:0060877", source="ORDO:455/e"} +xref: OMIM:146800 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} xref: Orphanet:455 {source="MONDO:equivalentTo", source="DOID:0060877", source="OMIM:146800"} xref: SCTID:254169002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432306 {source="NCIT:C84777", source="Orphanet:455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060877", source="ORDO:455/e", source="OMIM:146800"} +xref: UMLS:C0432306 {source="NCIT:C84777", source="Orphanet:455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877", source="OMIM:146800"} xref: UMLS:C1838440 {source="MONDO:subClassOf", source="OMIM:146800"} is_a: MONDO:0017266 {source="Orphanet:455"} ! keratinopathic ichthyosis is_a: MONDO:0017339 ! exfoliative ichthyosis @@ -140962,7 +140932,7 @@ xref: MESH:C564136 {source="MONDO:equivalentTo"} xref: OMIM:146830 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="MONDO:subClassOf", source="OMIM:146830"} xref: UMLS:C1840266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146830"} -is_a: MONDO:0015517 {source="ORDO:1572/btnt"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="Orphanet:1572/btnt"} ! common variable immunodeficiency property_value: confidence "2.3230769230769237" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable xsd:anyURI {source="GARD:0002984"} @@ -141047,22 +141017,22 @@ synonym: "STAT3 deficiency" EXACT [Orphanet:2314] xref: DOID:3261 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: EFO:0003775 {source="MONDO:equivalentTo"} xref: GARD:0006800 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.4 {source="ORDO:2314/attributed", source="ORDO:2314/ntbt", source="Orphanet:2314"} +xref: ICD10CM:D82.4 {source="Orphanet:2314", source="Orphanet:2314/attributed", source="Orphanet:2314/ntbt"} xref: MESH:C564135 {source="MONDO:equivalentTo"} xref: MESH:C567925 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MESH:D007589 {source="EFO:0003775", source="DOID:3261"} xref: NCIT:C126342 {source="MONDO:equivalentTo"} xref: NCIT:C3144 {source="EFO:0003775"} xref: OMIM:146840 {source="MONDO:equivalentTo"} -xref: OMIM:147060 {source="GARD:0006800", source="EFO:0003775", source="ORDO:2314/e", source="MONDO:equivalentTo", source="Orphanet:2314", source="MONDO:preferredExternal", source="DOID:3261"} +xref: OMIM:147060 {source="GARD:0006800", source="EFO:0003775", source="MONDO:equivalentTo", source="Orphanet:2314", source="MONDO:preferredExternal", source="DOID:3261", source="Orphanet:2314/e"} xref: OMIM:615816 {source="MONDO:relatedTo", source="EFO:0003775"} xref: Orphanet:2314 {source="GARD:0006800", source="MONDO:equivalentTo", source="OMIM:147060"} xref: SCTID:50926003 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: UMLS:C0022398 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1840265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:146840"} xref: UMLS:C1968689 {source="MONDO:relatedTo", source="DOID:3261"} -xref: UMLS:C2936739 {source="ORDO:2314/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2314", source="DOID:3261", source="OMIM:147060"} -xref: UMLS:C3489795 {source="ORDO:2314/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2314"} +xref: UMLS:C2936739 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2314", source="DOID:3261", source="OMIM:147060", source="Orphanet:2314/e"} +xref: UMLS:C3489795 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2314", source="Orphanet:2314/e"} xref: UMLS:C3887645 {source="NCIT:C126342", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2314"} is_a: MONDO:0002468 {source="DOID:3261", source="NCIT:C126342/inferred"} ! hyperimmunoglobulin syndrome is_a: MONDO:0003778 {source="DC-OMIM:146840", source="MESH:C564135"} ! inborn errors of immunity @@ -141091,15 +141061,15 @@ synonym: "SMMCI syndrome" RELATED [OMIM:147250] synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMIM:147250] synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250] xref: GARD:0004877 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K00.2 {source="Orphanet:2286", source="ORDO:2286/attributed", source="ORDO:2286/ntbt"} -xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="ORDO:2286/e"} -xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="ORDO:2286/e"} +xref: ICD10CM:K00.2 {source="Orphanet:2286", source="Orphanet:2286/attributed", source="Orphanet:2286/ntbt"} +xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} +xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} xref: Orphanet:2162 {source="MONDO:subClassOf", source="OMIM:147250"} xref: Orphanet:2286 {source="OMIM:147250", source="MONDO:equivalentObsolete"} xref: Orphanet:280200 {source="MONDO:subClassOf", source="OMIM:147250"} xref: SCTID:707609006 {source="MONDO:equivalentTo"} -xref: UMLS:C1840235 {source="OMIM:147250", source="Orphanet:2286", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2286/e"} -is_a: MONDO:0016296 {source="ORDO:2162/btnt", source="Orphanet:2286/inferred"} ! holoprosencephaly +xref: UMLS:C1840235 {source="OMIM:147250", source="Orphanet:2286", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2286/e"} +is_a: MONDO:0016296 {source="Orphanet:2162/btnt", source="Orphanet:2286/inferred"} ! holoprosencephaly is_a: MONDO:0017219 {source="Orphanet:2286"} ! microform holoprosencephaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10848 {source="OMIM:147250", source="mim2gene_medgen"} ! SHH relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -141115,12 +141085,12 @@ synonym: "'Double Tooth'" RELATED [OMIM:147251] synonym: "Double tooth" RELATED [GARD:0002419] synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251] xref: GARD:0002419 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.2 {source="Orphanet:2287", source="ORDO:2287/attributed", source="ORDO:2287/ntbt"} -xref: MESH:C535997 {source="Orphanet:2287", source="ORDO:2287/e"} -xref: OMIM:147251 {source="Orphanet:2287", source="ORDO:2287/e", source="MONDO:equivalentTo"} +xref: ICD10CM:K00.2 {source="Orphanet:2287", source="Orphanet:2287/attributed", source="Orphanet:2287/ntbt"} +xref: MESH:C535997 {source="Orphanet:2287", source="Orphanet:2287/e"} +xref: OMIM:147251 {source="Orphanet:2287", source="MONDO:equivalentTo", source="Orphanet:2287/e"} xref: Orphanet:2287 {source="OMIM:147251", source="MONDO:equivalentTo"} xref: SCTID:707796002 {source="MONDO:equivalentTo"} -xref: UMLS:C2931081 {source="Orphanet:2287", source="ORDO:2287/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931081 {source="Orphanet:2287", source="Orphanet:2287/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3494175 {source="OMIM:147251", source="Orphanet:2287", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN201433 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder @@ -141217,18 +141187,18 @@ xref: DOID:3429 {source="EFO:0007323", source="MONDO:equivalentTo"} xref: EFO:0007323 {source="MONDO:equivalentTo"} xref: GARD:0003896 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:G72.41 {source="DOID:3429"} -xref: ICD10CM:M60.8 {source="Orphanet:611", source="ORDO:611/ntbt"} +xref: ICD10CM:M60.8 {source="Orphanet:611/ntbt", source="Orphanet:611"} xref: ICD9:359.71 {source="MONDO:equivalentTo", source="i2s", source="DOID:3429"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066407 {source="Orphanet:611", source="ORDO:611/e"} +xref: MedDRA:10066407 {source="Orphanet:611", source="Orphanet:611/e"} xref: MESH:D018979 {source="EFO:0007323", source="MONDO:equivalentTo", source="DOID:3429"} xref: NCIT:C84786 {source="MONDO:equivalentTo", source="DOID:3429"} -xref: OMIM:147421 {source="Orphanet:611", source="MONDO:equivalentTo", source="DOID:3429", source="ORDO:611/e"} +xref: OMIM:147421 {source="Orphanet:611", source="MONDO:equivalentTo", source="Orphanet:611/e", source="DOID:3429"} xref: OMIM:605637 {source="MONDO:superClassOf", source="DOID:3429"} xref: OMIM:605820 {source="MONDO:superClassOf", source="DOID:3429"} xref: Orphanet:611 {source="MONDO:equivalentTo", source="OMIM:147421"} xref: SCTID:72315009 {source="MONDO:equivalentTo", source="DOID:3429"} -xref: UMLS:C0238190 {source="Orphanet:611", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147421", source="DOID:3429", source="NCIT:C84786", source="ORDO:611/e"} +xref: UMLS:C0238190 {source="Orphanet:611", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147421", source="Orphanet:611/e", source="DOID:3429", source="NCIT:C84786"} xref: UMLS:C0751713 {source="Orphanet:611", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0021167 {source="DOID:3429", source="EFO:0007323", source="MESH:D018979", source="NCIT:C84786", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis property_value: confidence "0.00588235294117645" xsd:double @@ -141261,7 +141231,7 @@ xref: UMLS:C0268318 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C3549845 {source="MONDO:equivalentTo", source="OMIM:147480"} is_a: MONDO:0100429 {source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3706 {source="mim2gene_medgen"} ! ATP8B1 -relationship: excluded_subClassOf MONDO:0019072 {source="ORDO:69665/btnt"} ! intrahepatic cholestasis +relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt"} ! intrahepatic cholestasis property_value: confidence "0.16666666666666674" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3897 xsd:string @@ -141352,12 +141322,12 @@ synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307] xref: DOID:0111381 {source="MONDO:equivalentTo"} xref: GARD:0000269 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q71.8 {source="ORDO:2307/attributed", source="ORDO:2307/ntbt", source="Orphanet:2307"} +xref: ICD10CM:Q71.8 {source="Orphanet:2307/attributed", source="Orphanet:2307/ntbt", source="Orphanet:2307"} xref: MESH:C535544 {source="MONDO:equivalentTo"} -xref: OMIM:147750 {source="MONDO:equivalentTo", source="ORDO:2307/e", source="Orphanet:2307"} +xref: OMIM:147750 {source="Orphanet:2307/e", source="MONDO:equivalentTo", source="Orphanet:2307"} xref: Orphanet:2307 {source="OMIM:147750", source="MONDO:equivalentTo"} xref: SCTID:722019000 {source="MONDO:equivalentTo"} -xref: UMLS:C1327918 {source="OMIM:147750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2307/e", source="Orphanet:2307"} +xref: UMLS:C1327918 {source="Orphanet:2307/e", source="OMIM:147750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2307"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -141378,12 +141348,12 @@ synonym: "alopecia-anosmia-deafness-hypogonadism syndrome" EXACT [OMIM:147770, O synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770] synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316] xref: GARD:0000378 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2316/attributed", source="ORDO:2316/ntbt", source="Orphanet:2316"} -xref: MESH:C535882 {source="MONDO:equivalentTo", source="ORDO:2316/e", source="Orphanet:2316"} -xref: OMIM:147770 {source="MONDO:equivalentTo", source="ORDO:2316/e", source="Orphanet:2316"} +xref: ICD10CM:Q87.8 {source="Orphanet:2316", source="Orphanet:2316/attributed", source="Orphanet:2316/ntbt"} +xref: MESH:C535882 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} +xref: OMIM:147770 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} xref: Orphanet:2316 {source="OMIM:147770", source="MONDO:equivalentTo"} xref: SCTID:721584005 {source="MONDO:equivalentTo"} -xref: UMLS:C0796002 {source="OMIM:147770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2316/e", source="Orphanet:2316"} +xref: UMLS:C0796002 {source="OMIM:147770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2316", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2316"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019287 {source="MESH:C535882/inferred", source="Orphanet:2316", source="linkedlifedata"} ! ectodermal dysplasia syndrome @@ -141410,13 +141380,13 @@ synonym: "partial 11q monosomy syndrome" RELATED [OMIM:147791] synonym: "telomeric deletion 11q" EXACT [Orphanet:2308] xref: DOID:0111723 {source="MONDO:equivalentTo"} xref: GARD:0000307 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:2308/attributed", source="ORDO:2308/ntbt", source="Orphanet:2308"} -xref: MESH:D054868 {source="Orphanet:2308", source="ORDO:2308/e"} +xref: ICD10CM:Q93.5 {source="Orphanet:2308", source="Orphanet:2308/attributed", source="Orphanet:2308/ntbt"} +xref: MESH:D054868 {source="Orphanet:2308/e", source="Orphanet:2308"} xref: NCIT:C75457 {source="MONDO:equivalentTo"} -xref: OMIM:147791 {source="MONDO:equivalentTo", source="Orphanet:2308", source="ORDO:2308/e"} +xref: OMIM:147791 {source="Orphanet:2308/e", source="MONDO:equivalentTo", source="Orphanet:2308"} xref: Orphanet:2308 {source="OMIM:147791", source="MONDO:equivalentTo"} xref: SCTID:715438008 {source="MONDO:equivalentTo"} -xref: UMLS:C0795841 {source="OMIM:147791", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2308", source="ORDO:2308/e", source="NCIT:C75457"} +xref: UMLS:C0795841 {source="Orphanet:2308/e", source="OMIM:147791", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2308", source="NCIT:C75457"} is_a: MONDO:0002254 {source="NCIT:C75457"} ! syndromic disease is_a: MONDO:0016910 {source="Orphanet:2308"} ! partial deletion of the long arm of chromosome 11 is_a: MONDO:0018795 {source="Orphanet:2308"} ! syndromic constitutional thrombocytopenia @@ -141437,13 +141407,13 @@ synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1, OMIM:147800] synonym: "hydrocephalus-cleft palate-joint contractures syndrome" EXACT [Orphanet:916] synonym: "Joint contractures with Other abnormalities" RELATED [OMIM:147800] xref: GARD:0005642 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:916/attributed", source="ORDO:916/ntbt", source="Orphanet:916"} -xref: MedDRA:10063429 {source="ORDO:916/e", source="Orphanet:916"} -xref: MESH:C535332 {source="MONDO:equivalentTo", source="ORDO:916/e", source="Orphanet:916"} -xref: OMIM:147800 {source="MONDO:equivalentTo", source="ORDO:916/e", source="Orphanet:916"} +xref: ICD10CM:Q87.8 {source="Orphanet:916/attributed", source="Orphanet:916/ntbt", source="Orphanet:916"} +xref: MedDRA:10063429 {source="Orphanet:916/e", source="Orphanet:916"} +xref: MESH:C535332 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"} +xref: OMIM:147800 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"} xref: Orphanet:916 {source="MONDO:equivalentTo", source="OMIM:147800"} xref: SCTID:718576001 {source="MONDO:equivalentTo"} -xref: UMLS:C0220686 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:916/e", source="OMIM:147800", source="Orphanet:916"} +xref: UMLS:C0220686 {source="Orphanet:916/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:147800", source="Orphanet:916"} is_a: MONDO:0015161 {source="Orphanet:916", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:916"} ! orofacial clefting syndrome is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:916", source="Orphanet:916/inferred"} ! genetic nervous system disorder @@ -141479,13 +141449,13 @@ synonym: "small patella syndrome" EXACT [MONDO:Lexical, OMIM:147891, Orphanet:15 synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147891, Orphanet:1509] xref: DOID:0111382 {source="MONDO:equivalentTo"} xref: GARD:0003030 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.1 {source="ORDO:1509/attributed", source="ORDO:1509/ntbt", source="Orphanet:1509"} +xref: ICD10CM:Q74.1 {source="Orphanet:1509/attributed", source="Orphanet:1509/ntbt", source="Orphanet:1509"} xref: MESH:C535540 {source="MONDO:equivalentTo"} -xref: OMIM:147891 {source="MONDO:equivalentTo", source="Orphanet:1509", source="ORDO:1509/e"} +xref: OMIM:147891 {source="Orphanet:1509/e", source="MONDO:equivalentTo", source="Orphanet:1509"} xref: Orphanet:1509 {source="OMIM:147891", source="MONDO:equivalentTo"} xref: SCTID:720752007 {source="MONDO:equivalentTo"} -xref: UMLS:C1840061 {source="OMIM:147891", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1509", source="ORDO:1509/e"} -xref: UMLS:C1868581 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1509", source="ORDO:1509/e"} +xref: UMLS:C1840061 {source="OMIM:147891", source="Orphanet:1509/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1509"} +xref: UMLS:C1868581 {source="Orphanet:1509/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1509"} is_a: MONDO:0019712 {source="Orphanet:1509"} ! patellar dysostosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11603 {source="mim2gene_medgen"} ! TBX4 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -141512,12 +141482,12 @@ synonym: "familial joint laxity" EXACT [Orphanet:2295] synonym: "Joint instability syndrome" EXACT [Orphanet:2295] synonym: "JOINT laxity, familial" RELATED [OMIM:147900] xref: GARD:0003054 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:2295/attributed", source="ORDO:2295/ntbt", source="Orphanet:2295"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:2295/attributed", source="Orphanet:2295/ntbt", source="Orphanet:2295"} xref: MESH:C535884 {source="MONDO:equivalentTo"} -xref: OMIM:147900 {source="MONDO:equivalentTo", source="ORDO:2295/e", source="Orphanet:2295"} +xref: OMIM:147900 {source="Orphanet:2295/e", source="MONDO:equivalentTo", source="Orphanet:2295"} xref: Orphanet:2295 {source="MONDO:equivalentTo", source="OMIM:147900"} xref: SCTID:71322004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2295/e", source="OMIM:147900", source="Orphanet:2295"} +xref: UMLS:C0268349 {source="NCBI:mim2gene_medline", source="Orphanet:2295/e", source="MONDO:equivalentTo", source="OMIM:147900", source="Orphanet:2295"} is_a: MONDO:0020066 {source="Orphanet:2295", source="linkedlifedata"} ! Ehlers-Danlos syndrome property_value: confidence "4.833333333333333" xsd:double @@ -141593,13 +141563,13 @@ synonym: "short stature, characteristic facies, macrodontia, mental retardation, synonym: "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome" EXACT [Orphanet:2332] xref: DOID:14780 {source="MONDO:equivalentTo"} xref: GARD:0000082 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2332", source="ORDO:2332/attributed", source="ORDO:2332/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2332/attributed", source="Orphanet:2332/ntbt", source="Orphanet:2332"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537015 {source="ORDO:2332/e", source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo"} -xref: OMIM:148050 {source="ORDO:2332/e", source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo"} +xref: MESH:C537015 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"} +xref: OMIM:148050 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"} xref: Orphanet:2332 {source="DOID:14780", source="MONDO:equivalentTo", source="OMIM:148050"} xref: SCTID:711156009 {source="DOID:14780", source="MONDO:equivalentTo"} -xref: UMLS:C0220687 {source="ORDO:2332/e", source="Orphanet:2332", source="NCBI:mim2gene_medline", source="DOID:14780", source="MONDO:equivalentTo", source="OMIM:148050"} +xref: UMLS:C0220687 {source="Orphanet:2332", source="NCBI:mim2gene_medline", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e", source="OMIM:148050"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2332", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21316 {source="mim2gene_medgen"} ! ANKRD11 @@ -141628,12 +141598,12 @@ synonym: "keratitis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominan synonym: "keratitis, hereditary" RELATED [OMIM:148190] xref: DOID:0111383 {source="MONDO:equivalentTo"} xref: GARD:0003089 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H16.8 {source="Orphanet:2334", source="ORDO:2334/attributed", source="ORDO:2334/ntbt"} -xref: MESH:C537022 {source="ORDO:2334/e", source="Orphanet:2334", source="MONDO:equivalentTo"} -xref: OMIM:148190 {source="ORDO:2334/e", source="Orphanet:2334", source="MONDO:equivalentTo"} +xref: ICD10CM:H16.8 {source="Orphanet:2334/attributed", source="Orphanet:2334/ntbt", source="Orphanet:2334"} +xref: MESH:C537022 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} +xref: OMIM:148190 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} xref: Orphanet:2334 {source="MONDO:equivalentTo", source="OMIM:148190"} xref: SCTID:715339004 {source="MONDO:equivalentTo"} -xref: UMLS:C1835698 {source="ORDO:2334/e", source="NCBI:mim2gene_medline", source="Orphanet:2334", source="MONDO:equivalentTo", source="OMIM:148190"} +xref: UMLS:C1835698 {source="NCBI:mim2gene_medline", source="Orphanet:2334", source="MONDO:equivalentTo", source="OMIM:148190", source="Orphanet:2334/e"} xref: UMLS:C4017065 {source="MONDO:equivalentTo"} xref: UMLS:CN068649 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease @@ -141717,11 +141687,11 @@ synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [Orphanet:2202] synonym: "PPK-deafness syndrome" EXACT [Orphanet:2202] xref: DOID:0111505 {source="MONDO:equivalentTo"} xref: GARD:0003094 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:2202", source="ORDO:2202/attributed", source="ORDO:2202/ntbt"} -xref: MESH:C536152 {source="ORDO:2202/e", source="Orphanet:2202", source="MONDO:equivalentTo"} -xref: OMIM:148350 {source="ORDO:2202/e", source="Orphanet:2202", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:2202/attributed", source="Orphanet:2202/ntbt", source="Orphanet:2202"} +xref: MESH:C536152 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} +xref: OMIM:148350 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} xref: Orphanet:2202 {source="OMIM:148350", source="MONDO:equivalentTo"} -xref: UMLS:C1835672 {source="OMIM:148350", source="ORDO:2202/e", source="NCBI:mim2gene_medline", source="Orphanet:2202", source="MONDO:equivalentTo"} +xref: UMLS:C1835672 {source="OMIM:148350", source="NCBI:mim2gene_medline", source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019589 {source="Orphanet:2202"} ! syndromic genetic hearing loss relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4284 {source="mim2gene_medgen"} ! GJB2 @@ -141759,11 +141729,11 @@ synonym: "Oudtshoorn skin" RELATED [GARD:0008275] synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370] xref: GARD:0008275 {source="MONDO:equivalentTo"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536155 {source="MONDO:equivalentTo", source="ORDO:50943/e", source="Orphanet:50943"} -xref: OMIM:148370 {source="MONDO:equivalentTo", source="ORDO:50943/e", source="Orphanet:50943"} +xref: MESH:C536155 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} +xref: OMIM:148370 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} xref: Orphanet:50943 {source="MONDO:equivalentTo", source="OMIM:148370"} xref: SCTID:239064000 {source="MONDO:equivalentTo"} -xref: UMLS:C0406756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:50943/e", source="Orphanet:50943", source="OMIM:148370"} +xref: UMLS:C0406756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e", source="OMIM:148370"} is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease property_value: confidence "3.533333333333334" xsd:double @@ -141801,10 +141771,10 @@ synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet: xref: DOID:0111506 {source="MONDO:equivalentTo"} xref: GARD:0003102 {source="MONDO:equivalentTo"} xref: MESH:C536164 {source="MONDO:equivalentTo"} -xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO:equivalentTo", source="ORDO:2198/e"} +xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO:equivalentTo", source="Orphanet:2198/e"} xref: Orphanet:2198 {source="GARD:0003102", source="MONDO:equivalentTo", source="OMIM:148500"} xref: SCTID:111030006 {source="MONDO:equivalentTo"} -xref: UMLS:C1835664 {source="Orphanet:2198", source="NCBI:mim2gene_medline", source="OMIM:148500", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2198/e"} +xref: UMLS:C1835664 {source="Orphanet:2198", source="NCBI:mim2gene_medline", source="OMIM:148500", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2198/e"} is_a: MONDO:0015111 {source="Orphanet:2198"} ! gastroesophageal disease is_a: MONDO:0015617 {source="Orphanet:2198"} ! genetic gastro-esophageal disease is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma @@ -141819,9 +141789,9 @@ def: "Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by subset: ordo_disease {source="Orphanet:86919"} synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [OMIM:148520] synonym: "palmoplantar keratoderma-clinodactyly syndrome" EXACT [Orphanet:86919] -xref: ICD10CM:Q82.8 {source="ORDO:86919/attributed", source="ORDO:86919/ntbt", source="Orphanet:86919"} +xref: ICD10CM:Q82.8 {source="Orphanet:86919/attributed", source="Orphanet:86919/ntbt", source="Orphanet:86919"} xref: MESH:C563646 {source="MONDO:equivalentTo"} -xref: OMIM:148520 {source="MONDO:equivalentTo", source="ORDO:86919/e", source="Orphanet:86919"} +xref: OMIM:148520 {source="Orphanet:86919/e", source="MONDO:equivalentTo", source="Orphanet:86919"} xref: Orphanet:86919 {source="OMIM:148520", source="MONDO:equivalentTo"} xref: UMLS:C1835663 {source="OMIM:148520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:86919"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma @@ -141847,7 +141817,7 @@ xref: OMIM:148600 {source="MONDO:equivalentTo", source="DOID:0080214"} xref: Orphanet:79501 {source="MONDO:subClassOf", source="OMIM:148600"} xref: UMLS:C1835662 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:148600"} is_a: MONDO:0017675 {source="DOID:0080214", source="indirect"} ! punctate palmoplantar keratoderma -is_a: MONDO:0019332 {source="ORDO:79501/btnt"} ! punctate palmoplantar keratoderma type 1 +is_a: MONDO:0019332 {source="Orphanet:79501/btnt"} ! punctate palmoplantar keratoderma type 1 intersection_of: MONDO:0017675 ! punctate palmoplantar keratoderma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25662 ! AAGAB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25662 {source="mim2gene_medgen"} ! AAGAB @@ -141892,9 +141862,9 @@ synonym: "focal palmoplantar and oral mucosa hyperkeratosis" RELATED [GARD:00030 synonym: "keratosis focal palmoplantar gingival" RELATED [GARD:0003098] synonym: "keratosis, focal palmoplantar and gingival" RELATED [OMIM:148730] xref: GARD:0003098 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:2200", source="ORDO:2200/attributed", source="ORDO:2200/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:2200/attributed", source="Orphanet:2200/ntbt", source="Orphanet:2200"} xref: MESH:C536157 {source="MONDO:equivalentTo"} -xref: OMIM:148730 {source="ORDO:2200/e", source="Orphanet:2200", source="MONDO:equivalentTo"} +xref: OMIM:148730 {source="Orphanet:2200", source="MONDO:equivalentTo", source="Orphanet:2200/e"} xref: Orphanet:2200 {source="MONDO:equivalentTo", source="OMIM:148730"} xref: SCTID:764963007 {source="MONDO:equivalentTo"} xref: UMLS:C1835650 {source="Orphanet:2200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:148730"} @@ -141917,10 +141887,10 @@ synonym: "Kleeblattschaedel deformity syndrome" RELATED [GARD:0003115] synonym: "Kleeblattschaedel syndrome" RELATED [GARD:0003115] synonym: "Kleeblattschaedel-deformity syndrome" RELATED [MESH:C536884] xref: GARD:0003115 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:2343", source="ORDO:2343/attributed", source="ORDO:2343/ntbt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:2343/attributed", source="Orphanet:2343/ntbt", source="Orphanet:2343"} xref: MESH:C536884 {source="MONDO:equivalentTo"} -xref: OMIM:148800 {source="ORDO:2343/e", source="GARD:0003115", source="Orphanet:2343", source="MONDO:equivalentTo"} -xref: OMIM:600775 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:2343", source="ORDO:2343/ntbt"} +xref: OMIM:148800 {source="GARD:0003115", source="Orphanet:2343", source="MONDO:equivalentTo", source="Orphanet:2343/e"} +xref: OMIM:600775 {source="MONDO:subClassOf", source="Orphanet:2343/ntbt", source="MONDO:relatedTo", source="Orphanet:2343"} xref: Orphanet:2343 {source="MONDO:equivalentTo", source="OMIM:148800"} xref: SCTID:254022009 {source="MONDO:equivalentTo"} xref: UMLS:C0432126 {source="GARD:0003115", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -141945,8 +141915,8 @@ synonym: "White forelock (poliosis) syndrome with multiple congenital malformati synonym: "WS3" EXACT ABBREVIATION [DOID:0110949, MONDO:Lexical, OMIM:148820, Orphanet:896] xref: DOID:0110949 {source="MONDO:equivalentTo"} xref: GARD:0005523 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="DOID:0110949", source="ORDO:896/attributed", source="ORDO:896/ntbt"} -xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="DOID:0110949", source="ORDO:896/e"} +xref: ICD10CM:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="Orphanet:896/attributed", source="Orphanet:896/ntbt", source="DOID:0110949"} +xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="Orphanet:896/e", source="DOID:0110949"} xref: Orphanet:3440 {source="MONDO:subClassOf", source="OMIM:148820"} xref: Orphanet:896 {source="MONDO:equivalentTo", source="DOID:0110949", source="OMIM:148820"} xref: UMLS:C0079661 {source="Orphanet:896", source="MONDO:notFoundInDiseaseSubset", source="OMIM:148820"} @@ -141971,14 +141941,14 @@ synonym: "Kleine-Levin syndrome" EXACT [OMIM:148840] xref: DOID:0060165 {source="MONDO:equivalentTo"} xref: EFO:1001354 {source="MONDO:equivalentTo"} xref: GARD:0003117 {source="MONDO:equivalentTo"} -xref: ICD10CM:G47.8 {source="Orphanet:33543", source="ORDO:33543/ntbt"} -xref: MedDRA:10053712 {source="Orphanet:33543", source="ORDO:33543/e"} -xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="ORDO:33543/e"} +xref: ICD10CM:G47.8 {source="Orphanet:33543", source="Orphanet:33543/ntbt"} +xref: MedDRA:10053712 {source="Orphanet:33543", source="Orphanet:33543/e"} +xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"} xref: NCIT:C84800 {source="MONDO:equivalentTo"} -xref: OMIM:148840 {source="Orphanet:33543", source="MONDO:equivalentTo", source="ORDO:33543/e"} +xref: OMIM:148840 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"} xref: Orphanet:33543 {source="MONDO:equivalentTo", source="OMIM:148840"} xref: SCTID:111488004 {source="MONDO:equivalentTo"} -xref: UMLS:C0206085 {source="Orphanet:33543", source="NCIT:C84800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:148840", source="ORDO:33543/e"} +xref: UMLS:C0206085 {source="Orphanet:33543", source="NCIT:C84800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:148840", source="Orphanet:33543/e"} is_a: MONDO:0002254 {source="NCIT:C84800"} ! syndromic disease is_a: MONDO:0003406 {source="DOID:0060165/inferred", source="EFO:1001354/inferred", source="MESH:D017593/inferred", source="MONDO:Redundant", source="NCIT:C84800", source="Orphanet:33543", source="indirect", source="linkedlifedata"} ! sleep-wake disorder is_a: MONDO:0004617 {source="DOID:0060165"} ! recurrent hypersomnia @@ -142008,12 +141978,12 @@ synonym: "Weber-Klippel-Trenaunay" EXACT [GARD:0003122] xref: DOID:2926 {source="EFO:0007334", source="MONDO:equivalentTo"} xref: EFO:0007334 {source="MONDO:equivalentTo"} xref: GARD:0003122 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:90308", source="Orphanet:2346", source="ORDO:90308/inclusion", source="ORDO:2346/attributed", source="ORDO:2346/ntbt", source="DOID:2926", source="ORDO:90308/ntbt"} -xref: MedDRA:10051452 {source="Orphanet:90308", source="ORDO:90308/e"} +xref: ICD10CM:Q87.2 {source="Orphanet:2346/attributed", source="Orphanet:2346/ntbt", source="Orphanet:90308", source="Orphanet:2346", source="Orphanet:90308/ntbt", source="Orphanet:90308/inclusion", source="DOID:2926"} +xref: MedDRA:10051452 {source="Orphanet:90308", source="Orphanet:90308/e"} xref: MESH:D007715 {source="EFO:0007334", source="MONDO:equivalentTo", source="DOID:2926"} xref: NCIT:C84801 {source="MONDO:equivalentTo", source="DOID:2926"} -xref: OMIM:149000 {source="Orphanet:90308", source="Orphanet:2346", source="ORDO:2346/e", source="MONDO:equivalentTo", source="DOID:2926", source="ORDO:90308/ntbt"} -xref: OMIM:608355 {source="Orphanet:2346", source="ORDO:2346/btnt", source="MONDO:superClassOf"} +xref: OMIM:149000 {source="Orphanet:90308", source="Orphanet:2346", source="Orphanet:90308/ntbt", source="MONDO:equivalentTo", source="Orphanet:2346/e", source="DOID:2926"} +xref: OMIM:608355 {source="Orphanet:2346/btnt", source="Orphanet:2346", source="MONDO:superClassOf"} xref: Orphanet:2346 {source="OMIM:149000", source="MONDO:equivalentTo"} xref: Orphanet:90308 {source="OMIM:149000", source="MONDO:superClassOf"} xref: SCTID:59078009 {source="DOID:2926"} @@ -142056,13 +142026,13 @@ synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkera synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" EXACT [Orphanet:2698] xref: DOID:0050658 {source="MONDO:equivalentTo"} xref: GARD:0003125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:2698", source="ORDO:2698/attributed", source="ORDO:2698/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:2698/attributed", source="Orphanet:2698/ntbt", source="Orphanet:2698"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537210 {source="MONDO:equivalentTo"} -xref: OMIM:149200 {source="Orphanet:2698", source="ORDO:2698/e", source="MONDO:equivalentTo", source="DOID:0050658"} +xref: OMIM:149200 {source="Orphanet:2698", source="MONDO:equivalentTo", source="DOID:0050658", source="Orphanet:2698/e"} xref: Orphanet:2698 {source="OMIM:149200", source="MONDO:equivalentTo"} xref: SCTID:1271009 {source="MONDO:equivalentTo"} -xref: UMLS:C0266004 {source="OMIM:149200", source="Orphanet:2698", source="NCBI:mim2gene_medline", source="ORDO:2698/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266004 {source="OMIM:149200", source="Orphanet:2698", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2698/e"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019589 {source="Orphanet:2698"} ! syndromic genetic hearing loss relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4284 {source="mim2gene_medgen"} ! GJB2 @@ -142152,9 +142122,9 @@ synonym: "lacrimal duct defect" RELATED [MONDO:Lexical, OMIM:149700] synonym: "lacrimal puncta, absence of" RELATED [OMIM:149700] synonym: "LCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:149700] synonym: "nasolacrimal duct obstruction" RELATED [OMIM:149700] -xref: ICD10CM:Q10.5 {source="ORDO:451612/ntbt", source="ORDO:451612/index", source="Orphanet:451612"} +xref: ICD10CM:Q10.5 {source="Orphanet:451612", source="Orphanet:451612/index", source="Orphanet:451612/ntbt"} xref: MESH:C566703 {source="MONDO:equivalentTo"} -xref: OMIM:149700 {source="MONDO:equivalentTo", source="Orphanet:451612", source="ORDO:451612/e"} +xref: OMIM:149700 {source="MONDO:equivalentTo", source="Orphanet:451612", source="Orphanet:451612/e"} xref: Orphanet:141083 {source="MONDO:subClassOf", source="OMIM:149700", source="MONDO:directSiblingOf"} xref: Orphanet:451612 {source="MONDO:equivalentTo"} xref: UMLS:C1835612 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:149700"} @@ -142183,13 +142153,13 @@ synonym: "levy Hollister syndrome" RELATED [GARD:0006848] synonym: "levy-Hollister syndrome" EXACT [DOID:0050331, OMIM:149730, Orphanet:2363] xref: DOID:0050331 {source="MONDO:equivalentTo"} xref: GARD:0006848 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2363", source="ORDO:2363/attributed", source="ORDO:2363/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2363", source="Orphanet:2363/attributed", source="Orphanet:2363/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538132 {source="MONDO:equivalentTo"} -xref: OMIM:149730 {source="DOID:0050331", source="Orphanet:2363", source="MONDO:equivalentTo", source="ORDO:2363/e"} +xref: OMIM:149730 {source="DOID:0050331", source="Orphanet:2363", source="MONDO:equivalentTo", source="Orphanet:2363/e"} xref: Orphanet:2363 {source="OMIM:149730", source="MONDO:equivalentTo"} xref: SCTID:23817003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265269 {source="Orphanet:2363", source="OMIM:149730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2363/e"} +xref: UMLS:C0265269 {source="Orphanet:2363", source="OMIM:149730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2363/e"} is_a: MONDO:0000426 {source="DOID:0050331", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:2363", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015503 {source="Orphanet:2363"} ! nose and cavum anomaly @@ -142227,18 +142197,18 @@ synonym: "TRPS 2" RELATED [GARD:0007801] synonym: "TRPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150230] xref: DOID:4998 {source="MONDO:equivalentTo"} xref: GARD:0007801 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:502", source="ORDO:502/attributed", source="ORDO:502/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:502", source="Orphanet:502/attributed", source="Orphanet:502/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050638 {source="ORDO:502/e", source="Orphanet:502"} -xref: MESH:C536555 {source="ORDO:502/e", source="Orphanet:502"} -xref: MESH:D015826 {source="ORDO:502/e", source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo"} +xref: MedDRA:10050638 {source="Orphanet:502", source="Orphanet:502/e"} +xref: MESH:C536555 {source="Orphanet:502", source="Orphanet:502/e"} +xref: MESH:D015826 {source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e"} xref: NCIT:C75118 {source="DOID:4998", source="MONDO:equivalentTo"} -xref: OMIM:150230 {source="ORDO:502/e", source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo"} +xref: OMIM:150230 {source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e"} xref: Orphanet:502 {source="MONDO:equivalentTo", source="OMIM:150230"} xref: SCTID:239017000 {source="DOID:4998"} xref: SCTID:41069008 {source="DOID:4998", source="MONDO:equivalentTo"} -xref: UMLS:C0023003 {source="NCIT:C75118", source="ORDO:502/e", source="Orphanet:502", source="NCBI:mim2gene_medline", source="DOID:4998", source="MONDO:equivalentTo", source="OMIM:150230"} -xref: UMLS:C2931237 {source="ORDO:502/e", source="Orphanet:502", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0023003 {source="NCIT:C75118", source="Orphanet:502", source="NCBI:mim2gene_medline", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e", source="OMIM:150230"} +xref: UMLS:C2931237 {source="Orphanet:502", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:502/e"} is_a: MONDO:0000426 {source="DOID:4998", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75118", source="indirect"} ! syndromic disease @@ -142264,15 +142234,15 @@ synonym: "Larsen syndrome" EXACT [MONDO:Lexical, OMIM:150250] synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150250] xref: DOID:14764 {source="MONDO:equivalentTo"} xref: GARD:0006860 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:503", source="ORDO:503/inclusion", source="ORDO:503/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:503/inclusion", source="Orphanet:503/ntbt", source="Orphanet:503"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C580241 {source="MONDO:equivalentTo"} -xref: OMIM:150250 {source="ORDO:503/e", source="Orphanet:503", source="MONDO:equivalentTo", source="DOID:14764"} +xref: OMIM:150250 {source="Orphanet:503", source="MONDO:equivalentTo", source="Orphanet:503/e", source="DOID:14764"} xref: Orphanet:503 {source="MONDO:equivalentTo", source="OMIM:150250"} xref: SCTID:63387002 {source="MONDO:equivalentTo"} xref: UMLS:C0175778 {source="Orphanet:503", source="MONDO:equivalentTo"} xref: UMLS:C1835564 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:150250"} -xref: UMLS:C2931648 {source="ORDO:503/e", source="Orphanet:503", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931648 {source="Orphanet:503", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:503/e"} is_a: MONDO:0000426 {source="DOID:14764", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015335 {source="Orphanet:503"} ! orofacial clefting syndrome is_a: MONDO:0019690 {source="Orphanet:503"} ! filamin-related bone disorder @@ -142296,12 +142266,12 @@ synonym: "laryngeal abductor paralysis" EXACT [OMIM:150260] synonym: "vocal cord dysfunction familial" RELATED [GARD:0005509] synonym: "vocal cord dysfunction, familial" RELATED [OMIM:150260] xref: GARD:0005509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:J38.0 {source="Orphanet:2808", source="ORDO:2808/attributed", source="ORDO:2808/ntbt"} +xref: ICD10CM:J38.0 {source="Orphanet:2808", source="Orphanet:2808/attributed", source="Orphanet:2808/ntbt"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:150260 {source="Orphanet:2808", source="MONDO:equivalentTo", source="ORDO:2808/e"} +xref: OMIM:150260 {source="Orphanet:2808", source="MONDO:equivalentTo", source="Orphanet:2808/e"} xref: Orphanet:2808 {source="MONDO:equivalentTo", source="OMIM:150260"} xref: SCTID:232442001 {source="MONDO:equivalentTo"} -xref: UMLS:C0396059 {source="Orphanet:2808", source="NCBI:mim2gene_medline", source="OMIM:150260", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2808/e"} +xref: UMLS:C0396059 {source="Orphanet:2808", source="NCBI:mim2gene_medline", source="OMIM:150260", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2808/e"} xref: UMLS:CN202762 {source="MONDO:equivalentTo"} is_a: MONDO:0010639 ! laryngeal abductor paralysis-intellectual disability syndrome is_a: MONDO:0015504 {source="Orphanet:2808"} ! larynx anomaly @@ -142328,16 +142298,16 @@ synonym: "congenital laryngeal stridor" RELATED [GARD:0006865] synonym: "laryngomalacia" RELATED [OMIM:150280] synonym: "laryngomalacia congenital" RELATED [GARD:0006865] xref: GARD:0006865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q31.5 {source="MONDO:equivalentTo", source="ORDO:2373/specific", source="Orphanet:2373", source="ORDO:2373/e"} +xref: ICD10CM:Q31.5 {source="Orphanet:2373/specific", source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10060786 {source="Orphanet:2373", source="ORDO:2373/e"} -xref: MESH:D055092 {source="MONDO:equivalentTo", source="Orphanet:2373", source="ORDO:2373/e"} +xref: MedDRA:10060786 {source="Orphanet:2373/e", source="Orphanet:2373"} +xref: MESH:D055092 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: NCIT:C98971 {source="MONDO:equivalentTo"} -xref: OMIM:150280 {source="MONDO:equivalentTo", source="Orphanet:2373", source="ORDO:2373/e"} +xref: OMIM:150280 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} xref: Orphanet:2373 {source="OMIM:150280", source="MONDO:equivalentTo"} xref: SCTID:253737007 {source="MONDO:equivalentTo"} xref: UMLS:C0264303 {source="OMIM:150280", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C98971"} -xref: UMLS:C0345160 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2373", source="ORDO:2373/e"} +xref: UMLS:C0345160 {source="Orphanet:2373/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2373"} is_a: MONDO:0015504 {source="Orphanet:2373"} ! larynx anomaly is_a: MONDO:0018562 {source="Orphanet:2373", source="Orphanet:2373/inferred"} ! genetic otorhinolaryngological malformation property_value: confidence "8.333333333333334" xsd:double @@ -142354,14 +142324,14 @@ synonym: "laryngeal atresia" EXACT [NCIT:C98972] synonym: "larynx, congenital partial atresia OF" RELATED [OMIM:150300] xref: GARD:0003192 {source="shared-xref", source="MONDO:equivalentTo"} xref: GARD:0003194 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q31.8 {source="Orphanet:1202", source="ORDO:1202/ntbt", source="ORDO:1202/inclusion"} +xref: ICD10CM:Q31.8 {source="Orphanet:1202/ntbt", source="Orphanet:1202/inclusion", source="Orphanet:1202"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563637 {source="MONDO:equivalentTo"} xref: NCIT:C98972 {source="MONDO:equivalentTo"} -xref: OMIM:150300 {source="Orphanet:1202", source="ORDO:1202/e", source="MONDO:equivalentTo"} +xref: OMIM:150300 {source="Orphanet:1202", source="MONDO:equivalentTo", source="Orphanet:1202/e"} xref: Orphanet:1202 {source="MONDO:equivalentTo", source="OMIM:150300"} xref: SCTID:64981002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265756 {source="Orphanet:1202", source="ORDO:1202/e", source="MONDO:equivalentTo", source="NCIT:C98972"} +xref: UMLS:C0265756 {source="Orphanet:1202", source="MONDO:equivalentTo", source="NCIT:C98972", source="Orphanet:1202/e"} xref: UMLS:C1835555 {source="Orphanet:1202", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:150300"} is_a: MONDO:0015504 {source="Orphanet:1202"} ! larynx anomaly is_a: MONDO:0018562 {source="Orphanet:1202", source="Orphanet:1202/inferred"} ! genetic otorhinolaryngological malformation @@ -142382,16 +142352,16 @@ synonym: "subglottic Bar" RELATED [OMIM:150360] synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676] synonym: "subglottic web" RELATED [OMIM:150360] xref: GARD:0002446 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q31.0 {source="Orphanet:2374", source="ORDO:2374/specific", source="ORDO:2374/e"} -xref: MedDRA:10023871 {source="Orphanet:2374", source="ORDO:2374/e"} +xref: ICD10CM:Q31.0 {source="Orphanet:2374", source="Orphanet:2374/e", source="Orphanet:2374/specific"} +xref: MedDRA:10023871 {source="Orphanet:2374", source="Orphanet:2374/e"} xref: MESH:C537676 {source="MONDO:equivalentTo"} xref: MESH:C563636 {source="MONDO:equivalentTo"} xref: NCIT:C98970 {source="MONDO:equivalentTo"} -xref: OMIM:150360 {source="Orphanet:2374", source="MONDO:equivalentTo", source="ORDO:2374/e"} +xref: OMIM:150360 {source="Orphanet:2374", source="MONDO:equivalentTo", source="Orphanet:2374/e"} xref: OMIM:185400 {source="GARD:0002446", source="MONDO:obsolete"} xref: Orphanet:2374 {source="MONDO:equivalentTo", source="OMIM:150360"} xref: SCTID:444921008 {source="MONDO:equivalentTo"} -xref: UMLS:C0152416 {source="Orphanet:2374", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2374/e"} +xref: UMLS:C0152416 {source="Orphanet:2374", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2374/e"} xref: UMLS:C0281890 {source="Orphanet:2374", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1835494 {source="Orphanet:2374", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:150360"} xref: UMLS:C2931586 {source="GARD:0002446", source="MONDO:notFoundInDiseaseSubset"} @@ -142490,13 +142460,13 @@ synonym: "pseudocoxalgia" EXACT [DOID:14415] xref: DOID:14415 {source="MONDO:equivalentTo", source="EFO:0007341"} xref: EFO:0007341 {source="MONDO:equivalentTo"} xref: GARD:0006874 {source="MONDO:equivalentTo"} -xref: ICD10CM:M91.1 {source="ORDO:2380/specific", source="Orphanet:2380", source="ORDO:2380/e"} +xref: ICD10CM:M91.1 {source="Orphanet:2380/e", source="Orphanet:2380/specific", source="Orphanet:2380"} xref: ICD10CM:M91.2 {source="DOID:14415"} xref: ICD10CM:M91.3 {source="DOID:14415"} -xref: MedDRA:10034735 {source="Orphanet:2380", source="ORDO:2380/e"} +xref: MedDRA:10034735 {source="Orphanet:2380/e", source="Orphanet:2380"} xref: MESH:D007873 {source="DOID:14415", source="MONDO:equivalentTo", source="EFO:0007341"} xref: NCIT:C34766 {source="DOID:14415", source="MONDO:equivalentTo"} -xref: OMIM:150600 {source="DOID:14415", source="MONDO:equivalentTo", source="Orphanet:2380", source="ORDO:2380/e"} +xref: OMIM:150600 {source="Orphanet:2380/e", source="DOID:14415", source="MONDO:equivalentTo", source="Orphanet:2380"} xref: Orphanet:2380 {source="OMIM:150600", source="MONDO:equivalentTo"} xref: SCTID:111255008 {source="DOID:14415"} xref: SCTID:156817009 {source="DOID:14415"} @@ -142509,7 +142479,7 @@ xref: SCTID:240169001 {source="DOID:14415"} xref: SCTID:240241003 {source="DOID:14415"} xref: SCTID:270545000 {source="DOID:14415"} xref: UMLS:C0022441 {source="DOID:14415", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0023234 {source="OMIM:150600", source="DOID:14415", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2380", source="ORDO:2380/e", source="NCIT:C34766"} +xref: UMLS:C0023234 {source="OMIM:150600", source="Orphanet:2380/e", source="DOID:14415", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2380", source="NCIT:C34766"} is_a: MONDO:0018381 {source="DOID:14415", source="GARD:0006874", source="MONDO:Redundant", source="Orphanet:2380", source="linkedlifedata"} ! osteochondrosis relationship: disease_has_feature HP:0010885 ! Avascular necrosis relationship: disease_has_feature MONDO:0005380 {source="DOID:14415/inferred", source="MESH:D007873/inferred", source="MONDO:Redundant", source="NCIT:C34766", source="Orphanet:2380/inferred"} ! osteonecrosis @@ -142601,7 +142571,7 @@ xref: MESH:C537006 {source="MONDO:equivalentTo"} xref: OMIM:150700 {source="MONDO:equivalentTo"} xref: Orphanet:1018 {source="MONDO:subClassOf", source="OMIM:150700"} xref: UMLS:C1835488 {source="OMIM:150700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010641 {source="ORDO:1018/btnt"} ! X-linked diffuse leiomyomatosis-Alport syndrome +is_a: MONDO:0010641 {source="Orphanet:1018/btnt"} ! X-linked diffuse leiomyomatosis-Alport syndrome property_value: confidence "1.6470588235294117" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus xsd:anyURI {source="GARD:0010097"} @@ -142637,10 +142607,10 @@ synonym: "Reed syndrome" EXACT [Orphanet:523] synonym: "Reed's syndrome" RELATED [GARD:0010096] xref: GARD:0003218 {source="MONDO:equivalentTo"} xref: GARD:0010096 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C64 {source="Orphanet:523", source="ORDO:523/attributed", source="ORDO:523/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:523/attributed", source="Orphanet:523/ntbt", source="Orphanet:523"} xref: MESH:C535516 {source="MONDO:equivalentTo"} xref: NCIT:C51302 {source="MONDO:equivalentTo"} -xref: OMIM:150800 {source="Orphanet:523", source="MONDO:equivalentTo", source="ORDO:523/e"} +xref: OMIM:150800 {source="Orphanet:523", source="MONDO:equivalentTo", source="Orphanet:523/e"} xref: Orphanet:523 {source="OMIM:150800", source="MONDO:equivalentTo"} xref: UMLS:C1708350 {source="OMIM:150800", source="Orphanet:523", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C51302"} xref: UMLS:CN073087 {source="MONDO:equivalentTo"} @@ -142683,9 +142653,9 @@ synonym: "lentiginosis profusa" RELATED [OMIM:151001] synonym: "lentiginosis, diffuse" RELATED [OMIM:151001] synonym: "lentiginosis, generalized" RELATED [OMIM:151001] synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001] -xref: ICD10CM:L81.4 {source="ORDO:231040/attributed", source="ORDO:231040/ntbt", source="Orphanet:231040"} +xref: ICD10CM:L81.4 {source="Orphanet:231040/attributed", source="Orphanet:231040/ntbt", source="Orphanet:231040"} xref: MESH:C573023 {source="MONDO:equivalentTo"} -xref: OMIM:151001 {source="MONDO:equivalentTo", source="ORDO:231040/e", source="Orphanet:231040"} +xref: OMIM:151001 {source="Orphanet:231040/e", source="MONDO:equivalentTo", source="Orphanet:231040"} xref: Orphanet:231040 {source="MONDO:equivalentTo", source="OMIM:151001"} xref: SCTID:765195000 {source="MONDO:equivalentTo"} xref: UMLS:C3492944 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151001"} @@ -142709,11 +142679,11 @@ synonym: "multiple congenital anomalies, intellectual disability and progressive synonym: "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" RELATED DEPRECATED [GARD:0003223] xref: DOID:0111507 {source="MONDO:equivalentTo"} xref: GARD:0003223 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:2658/attributed", source="ORDO:2658/ntbt", source="Orphanet:2658"} -xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="ORDO:2658/e"} -xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="ORDO:2658/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:2658", source="Orphanet:2658/attributed", source="Orphanet:2658/ntbt"} +xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} +xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: Orphanet:2658 {source="OMIM:151050", source="MONDO:equivalentTo"} -xref: UMLS:C0432269 {source="OMIM:151050", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2658", source="ORDO:2658/e"} +xref: UMLS:C0432269 {source="OMIM:151050", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2658", source="Orphanet:2658/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2658", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9587 {source="mim2gene_medgen"} ! PTDSS1 @@ -142744,19 +142714,19 @@ synonym: "Noonan syndrome with multiple lentigines" EXACT CLINGEN_PREFERRED [] synonym: "progressive cardiomyopathic lentiginosis" EXACT [DOID:14291] xref: DOID:14291 {source="MONDO:equivalentTo"} xref: GARD:0001100 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:500", source="ORDO:500/attributed", source="ORDO:500/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:500", source="Orphanet:500/attributed", source="Orphanet:500/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062901 {source="Orphanet:500", source="ORDO:500/e"} -xref: MESH:C537116 {source="Orphanet:500", source="ORDO:500/e"} -xref: MESH:D044542 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="ORDO:500/e"} +xref: MedDRA:10062901 {source="Orphanet:500", source="Orphanet:500/e"} +xref: MESH:C537116 {source="Orphanet:500", source="Orphanet:500/e"} +xref: MESH:D044542 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"} xref: NCIT:C84820 {source="DOID:14291", source="MONDO:equivalentTo"} -xref: OMIM:611554 {source="Orphanet:500", source="DOID:14291", source="MONDO:superClassOf", source="ORDO:500/btnt"} -xref: OMIM:613707 {source="Orphanet:500", source="DOID:14291", source="MONDO:superClassOf", source="ORDO:500/btnt"} +xref: OMIM:611554 {source="Orphanet:500", source="DOID:14291", source="Orphanet:500/btnt", source="MONDO:superClassOf"} +xref: OMIM:613707 {source="Orphanet:500", source="DOID:14291", source="Orphanet:500/btnt", source="MONDO:superClassOf"} xref: OMIMPS:151100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:500 {source="MONDO:equivalentTo", source="OMIM:151100"} xref: SCTID:111306001 {source="DOID:14291", source="MONDO:equivalentTo"} -xref: UMLS:C0175704 {source="Orphanet:500", source="NCIT:C84820", source="DOID:14291", source="MONDO:equivalentTo", source="OMIM:151100", source="ORDO:500/e"} -xref: UMLS:C2931424 {source="Orphanet:500", source="MONDO:notFoundInDiseaseSubset", source="ORDO:500/e"} +xref: UMLS:C0175704 {source="Orphanet:500", source="NCIT:C84820", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e", source="OMIM:151100"} +xref: UMLS:C2931424 {source="Orphanet:500", source="Orphanet:500/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN074218 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:14291", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84820", source="indirect"} ! syndromic disease @@ -142788,12 +142758,12 @@ synonym: "Leri type pleonosteosis" RELATED [GARD:0000088] synonym: "Leri's pleonosteosis" RELATED [GARD:0000088] synonym: "pleonosteosis Leri type" RELATED [GARD:0000088] xref: GARD:0000088 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="ORDO:2900/attributed", source="ORDO:2900/ntbt", source="Orphanet:2900"} -xref: MESH:C537118 {source="MONDO:equivalentTo", source="Orphanet:2900", source="ORDO:2900/e"} -xref: OMIM:151200 {source="MONDO:equivalentTo", source="Orphanet:2900", source="ORDO:2900/e"} +xref: ICD10CM:Q68.8 {source="Orphanet:2900", source="Orphanet:2900/attributed", source="Orphanet:2900/ntbt"} +xref: MESH:C537118 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"} +xref: OMIM:151200 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"} xref: Orphanet:2900 {source="MONDO:equivalentTo", source="OMIM:151200"} -xref: UMLS:C0265311 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2900", source="ORDO:2900/e"} -xref: UMLS:C1835450 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2900", source="ORDO:2900/e", source="OMIM:151200"} +xref: UMLS:C0265311 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2900", source="Orphanet:2900/e"} +xref: UMLS:C1835450 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2900", source="OMIM:151200", source="Orphanet:2900/e"} is_a: MONDO:0019054 {source="GARD:0000088", source="Orphanet:2900"} ! congenital limb malformation relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "9.0" xsd:double @@ -142818,9 +142788,9 @@ synonym: "thanatophoric dysplasia, Luton variant" RELATED [OMIM:151210] synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210] xref: DOID:0111508 {source="MONDO:equivalentTo"} xref: GARD:0004382 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="Orphanet:85166", source="ORDO:85166/attributed", source="ORDO:85166/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:85166", source="Orphanet:85166/attributed", source="Orphanet:85166/ntbt"} xref: MESH:C563627 {source="MONDO:equivalentTo"} -xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="ORDO:85166/e"} +xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="Orphanet:85166/e"} xref: Orphanet:85166 {source="MONDO:equivalentTo", source="OMIM:151210"} xref: UMLS:C1835437 {source="Orphanet:85166", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151210"} is_a: MONDO:0019694 {source="Orphanet:85166"} ! spondylodysplastic dysplasia @@ -142858,9 +142828,9 @@ xref: EFO:0000221 {source="MONDO:equivalentTo"} xref: GARD:0000525 {source="MONDO:equivalentTo"} xref: ICD9:206.0 {source="DOID:8864", source="EFO:0000221"} xref: ICDO:9891/3 {source="NCIT:C4861"} -xref: MedDRA:10000871 {source="ORDO:514/e", source="Orphanet:514"} -xref: MedDRA:10059439 {source="ORDO:514/e", source="Orphanet:514"} -xref: MESH:D007948 {source="DOID:8864", source="ORDO:514/e", source="EFO:0000221", source="Orphanet:514", source="MONDO:equivalentTo"} +xref: MedDRA:10000871 {source="Orphanet:514", source="Orphanet:514/e"} +xref: MedDRA:10059439 {source="Orphanet:514", source="Orphanet:514/e"} +xref: MESH:D007948 {source="DOID:8864", source="EFO:0000221", source="Orphanet:514", source="MONDO:equivalentTo", source="Orphanet:514/e"} xref: NCIT:C4861 {source="EFO:0000221", source="MONDO:equivalentTo"} xref: OMIM:151380 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo"} xref: ONCOTREE:AMOL {source="MONDO:equivalentTo"} @@ -142871,8 +142841,8 @@ xref: SCTID:413441006 {source="DOID:8864", source="EFO:0000221", source="MONDO:e xref: SCTID:91859000 {source="DOID:8864"} xref: UMLS:C0023465 {source="DOID:8864", source="OMIM:151380", source="Orphanet:514", source="MONDO:equivalentTo", source="NCIT:C4861"} xref: UMLS:C0023479 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf"} -xref: UMLS:C0457334 {source="ORDO:514/e", source="Orphanet:514", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1318544 {source="ORDO:514/e", source="Orphanet:514", source="MONDO:equivalentTo"} +xref: UMLS:C0457334 {source="Orphanet:514", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:514/e"} +xref: UMLS:C1318544 {source="Orphanet:514", source="MONDO:equivalentTo", source="Orphanet:514/e"} is_a: MONDO:0004600 {source="DOID:8864", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! monocytic leukemia is_a: MONDO:0018874 {source="EFO:0000221", source="MESH:D007948", source="NCIT:C4861/inferred", source="ONCOTREE:AMOL/inferred", source="Orphanet:514/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! acute myeloid leukemia intersection_of: MONDO:0004600 ! monocytic leukemia @@ -143018,8 +142988,8 @@ subset: gard_rare {source="GARD:0003440"} subset: ordo_malformation_syndrome {source="Orphanet:2699"} synonym: "LIP, MEDIAN NODULE of upper" RELATED [OMIM:151630] xref: GARD:0003440 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q18.8 {source="ORDO:2699/attributed", source="ORDO:2699/ntbt", source="Orphanet:2699"} -xref: OMIM:151630 {source="ORDO:2699/e", source="MONDO:equivalentTo", source="Orphanet:2699"} +xref: ICD10CM:Q18.8 {source="Orphanet:2699", source="Orphanet:2699/attributed", source="Orphanet:2699/ntbt"} +xref: OMIM:151630 {source="MONDO:equivalentTo", source="Orphanet:2699", source="Orphanet:2699/e"} xref: Orphanet:2699 {source="MONDO:equivalentTo", source="OMIM:151630"} xref: SCTID:722034006 {source="MONDO:equivalentTo"} xref: UMLS:C1835396 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:151630"} @@ -143060,11 +143030,11 @@ synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202] xref: DOID:0070202 {source="MONDO:equivalentTo"} xref: GARD:0003126 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:3126 {source="DOID:0070202"} -xref: ICD10CM:E88.1 {source="ORDO:2348/attributed", source="ORDO:2348/ntbt", source="Orphanet:2348"} -xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="ORDO:2348/e"} +xref: ICD10CM:E88.1 {source="Orphanet:2348", source="Orphanet:2348/attributed", source="Orphanet:2348/ntbt"} +xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="Orphanet:2348/e"} xref: Orphanet:2348 {source="MONDO:equivalentTo", source="DOID:0070202", source="OMIM:151660"} xref: SCTID:715439000 {source="MONDO:equivalentTo"} -xref: UMLS:C1720860 {source="NCBI:mim2gene_medline", source="Orphanet:2348", source="DOID:0070202", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2348/e", source="OMIM:151660"} +xref: UMLS:C1720860 {source="NCBI:mim2gene_medline", source="Orphanet:2348", source="DOID:0070202", source="MONDO:notFoundInDiseaseSubset", source="OMIM:151660", source="Orphanet:2348/e"} is_a: MONDO:0003847 {source="DOID:0070202"} ! Mendelian disease is_a: MONDO:0015333 {source="Orphanet:2348"} ! progeroid syndrome is_a: MONDO:0020088 {source="DC-OMIM:151660", source="DOID:0070202", source="OMIM:151660", source="Orphanet:2348", source="linkedlifedata"} ! familial partial lipodystrophy @@ -143110,17 +143080,17 @@ xref: DOID:14116 {source="MONDO:equivalentTo", source="EFO:1000737"} xref: DOID:3137 {source="MONDO:obsolete", source="EFO:1000737"} xref: EFO:1000737 {source="MONDO:equivalentTo"} xref: GARD:0006957 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:2398", source="ORDO:2398/inclusion", source="ORDO:2398/ntbt"} +xref: ICD10CM:E88.8 {source="Orphanet:2398/ntbt", source="Orphanet:2398", source="Orphanet:2398/inclusion"} xref: MESH:D008069 {source="DOID:3137", source="DOID:14116"} xref: NCIT:C4392 {source="MONDO:equivalentTo", source="DOID:14116"} -xref: OMIM:151800 {source="ORDO:2398/e", source="Orphanet:2398", source="MONDO:equivalentTo", source="DOID:14116"} +xref: OMIM:151800 {source="Orphanet:2398", source="MONDO:equivalentTo", source="Orphanet:2398/e", source="DOID:14116"} xref: Orphanet:2398 {source="OMIM:151800", source="MONDO:equivalentTo"} xref: SCTID:238902007 {source="DOID:3137", source="MONDO:equivalentTo"} xref: SCTID:254832003 {source="DOID:3137"} xref: SCTID:63365006 {source="DOID:14116"} xref: UMLS:C0023804 {source="OMIM:151800", source="Orphanet:2398", source="DOID:3137", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C0024445 {source="NCIT:C4392", source="Orphanet:2398", source="MONDO:equivalentObsolete", source="DOID:14116"} -xref: UMLS:C2931642 {source="ORDO:2398/e", source="Orphanet:2398", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931642 {source="Orphanet:2398", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2398/e"} xref: UMLS:CN201658 {source="MONDO:equivalentTo"} is_a: MONDO:0006574 {source="DOID:14116", source="EFO:1000737", source="MONDO:Redundant", source="NCIT:C4392", source="linkedlifedata"} ! lipomatosis is_a: MONDO:0019296 {source="Orphanet:2398"} ! subcutaneous tissue disorder @@ -143137,10 +143107,10 @@ synonym: "lipoma" RELATED [OMIM:151900] synonym: "lipomatosis, familial multiple" RELATED [OMIM:151900] synonym: "lipomatosis, multiple" RELATED [OMIM:151900] xref: GARD:0012925 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.2 {source="Orphanet:199276", source="ORDO:199276/attributed", source="ORDO:199276/ntbt"} +xref: ICD10CM:E88.2 {source="Orphanet:199276/attributed", source="Orphanet:199276/ntbt", source="Orphanet:199276"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:214.9 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:151900 {source="ORDO:199276/e", source="Orphanet:199276", source="MONDO:equivalentTo"} +xref: OMIM:151900 {source="Orphanet:199276", source="MONDO:equivalentTo", source="Orphanet:199276/e"} xref: Orphanet:199276 {source="OMIM:151900", source="MONDO:equivalentTo"} xref: SCTID:766888002 {source="MONDO:equivalentTo"} xref: UMLS:C3489413 {source="OMIM:151900", source="Orphanet:199276", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -143266,15 +143236,15 @@ synonym: "primary intestinal lymphangiectasis" RELATED [GARD:0007873] synonym: "Waldmann disease" EXACT [Orphanet:90362] synonym: "Waldmann's disease" RELATED [GARD:0007873] xref: GARD:0007873 {source="MONDO:equivalentTo"} -xref: ICD10CM:I89.0 {source="Orphanet:90362", source="ORDO:90362/attributed", source="ORDO:90362/ntbt"} +xref: ICD10CM:I89.0 {source="Orphanet:90362/attributed", source="Orphanet:90362/ntbt", source="Orphanet:90362"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536567 {source="ORDO:90362/e", source="Orphanet:90362"} -xref: OMIM:152800 {source="ORDO:90362/e", source="Orphanet:90362", source="MONDO:equivalentTo"} +xref: MESH:C536567 {source="Orphanet:90362", source="Orphanet:90362/e"} +xref: OMIM:152800 {source="Orphanet:90362", source="MONDO:equivalentTo", source="Orphanet:90362/e"} xref: Orphanet:90362 {source="OMIM:152800", source="MONDO:equivalentTo"} xref: SCTID:6124009 {source="MONDO:equivalentTo"} xref: UMLS:C0024215 {source="OMIM:152800", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0267372 {source="ORDO:90362/e", source="Orphanet:90362", source="MONDO:equivalentTo"} -xref: UMLS:C2931241 {source="ORDO:90362/e", source="Orphanet:90362", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0267372 {source="Orphanet:90362", source="MONDO:equivalentTo", source="Orphanet:90362/e"} +xref: UMLS:C2931241 {source="Orphanet:90362", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90362/e"} xref: UMLS:CN206410 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="Orphanet:90362"} ! intestinal disorder is_a: MONDO:0018178 {source="Orphanet:90362", source="linkedlifedata"} ! intestinal lymphangiectasia @@ -143291,7 +143261,7 @@ synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [OMIM:152900] synonym: "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" RELATED [GARD:0009217] xref: GARD:0009217 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C563612 {source="MONDO:equivalentTo"} -xref: OMIM:152900 {source="MONDO:equivalentTo", source="ORDO:86914/e", source="Orphanet:86914"} +xref: OMIM:152900 {source="Orphanet:86914/e", source="MONDO:equivalentTo", source="Orphanet:86914"} xref: Orphanet:86914 {source="OMIM:152900", source="MONDO:equivalentTo"} xref: UMLS:C1835272 {source="OMIM:152900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:86914"} is_a: MONDO:0019520 {source="Orphanet:86914"} ! syndromic lymphedema @@ -143321,11 +143291,11 @@ synonym: "MLCRD" EXACT ABBREVIATION [Orphanet:2526] synonym: "Mlcrd syndrome" RELATED [OMIM:152950] xref: DOID:0060349 {source="MONDO:equivalentTo"} xref: GARD:0003622 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2526/attributed", source="ORDO:2526/ntbt", source="Orphanet:2526"} -xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="ORDO:2526/e"} -xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="ORDO:2526/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2526", source="Orphanet:2526/attributed", source="Orphanet:2526/ntbt"} +xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} +xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} xref: Orphanet:2526 {source="MONDO:equivalentTo", source="DOID:0060349", source="OMIM:152950"} -xref: UMLS:C1835265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="ORDO:2526/e", source="OMIM:152950"} +xref: UMLS:C1835265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="OMIM:152950", source="Orphanet:2526/e"} xref: UMLS:C3501946 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2526"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:2526", source="Orphanet:2526/inferred"} ! genetic vascular anomaly is_a: MONDO:0019117 ! genetic nervous system disorder @@ -143365,7 +143335,7 @@ xref: OMIM:153100 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:equivalentTo", source="OMIM:153100"} xref: SCTID:399889006 {source="MONDO:equivalentTo"} xref: UMLS:C1704423 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153100"} -is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:153100", source="ORDO:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:153100", source="Orphanet:79452/btnt"} ! lymphatic malformation intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3767 ! FLT4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3767 {source="mim2gene_medgen"} ! FLT4 @@ -143391,17 +143361,17 @@ synonym: "Meige lymphedema" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186] xref: DOID:0070213 {source="MONDO:equivalentTo"} xref: GARD:0003324 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:3324 {source="DOID:0070213"} -xref: ICD10CM:Q82.0 {source="MONDO:subClassOf", source="Orphanet:90186", source="ORDO:90186/ntbt", source="ORDO:90186/index"} -xref: MedDRA:10027138 {source="ORDO:90186/e", source="Orphanet:90186"} +xref: ICD10CM:Q82.0 {source="MONDO:subClassOf", source="Orphanet:90186/ntbt", source="Orphanet:90186", source="Orphanet:90186/index"} +xref: MedDRA:10027138 {source="Orphanet:90186", source="Orphanet:90186/e"} xref: MESH:C562467 {source="MONDO:equivalentTo"} -xref: OMIM:153200 {source="ORDO:90186/e", source="Orphanet:90186", source="MONDO:equivalentTo", source="DOID:0070213"} +xref: OMIM:153200 {source="Orphanet:90186", source="MONDO:equivalentTo", source="DOID:0070213", source="Orphanet:90186/e"} xref: Orphanet:90186 {source="MONDO:equivalentTo", source="DOID:0070213", source="OMIM:153200"} xref: SCTID:230325003 {source="DOID:3982", source="MONDO:relatedTo"} xref: SCTID:400040008 {source="MONDO:equivalentTo"} -xref: UMLS:C0025183 {source="ORDO:90186/e", source="DOID:3982", source="Orphanet:90186", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0025183 {source="DOID:3982", source="Orphanet:90186", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90186/e"} xref: UMLS:C0238261 {source="Orphanet:90186", source="DOID:0070213", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153200"} -xref: UMLS:C1704424 {source="ORDO:90186/e", source="Orphanet:90186", source="DOID:0070213", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1704425 {source="ORDO:90186/e", source="NCBI:mim2gene_medline", source="Orphanet:90186", source="DOID:0070213", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1704424 {source="Orphanet:90186", source="DOID:0070213", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90186/e"} +xref: UMLS:C1704425 {source="NCBI:mim2gene_medline", source="Orphanet:90186", source="DOID:0070213", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90186/e"} is_a: MONDO:0000486 {source="DOID:3982"} ! craniofacial dystonia is_a: MONDO:0019313 {source="DOID:0070213", source="OMIM:153200"} ! lymphatic malformation property_value: confidence "2.599999999999999" xsd:double @@ -143420,13 +143390,13 @@ synonym: "Yns" RELATED [OMIM:153300] xref: DOID:0050468 {source="MONDO:equivalentTo"} xref: EFO:1001452 {source="MONDO:equivalentTo"} xref: GARD:0000184 {source="MONDO:equivalentTo"} -xref: ICD10CM:L60.5 {source="ORDO:662/ntbt", source="MONDO:equivalentTo", source="DOID:0050468", source="Orphanet:662"} +xref: ICD10CM:L60.5 {source="MONDO:equivalentTo", source="Orphanet:662/ntbt", source="DOID:0050468", source="Orphanet:662"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048244 {source="ORDO:662/e", source="Orphanet:662"} +xref: MedDRA:10048244 {source="Orphanet:662/e", source="Orphanet:662"} xref: MESH:D056684 {source="MONDO:equivalentTo", source="DOID:0050468"} xref: NCIT:C85238 {source="MONDO:equivalentTo", source="DOID:0050468"} -xref: OMIM:153300 {source="MONDO:equivalentTo", source="DOID:0050468", source="ORDO:662/e", source="Orphanet:662"} +xref: OMIM:153300 {source="Orphanet:662/e", source="MONDO:equivalentTo", source="DOID:0050468", source="Orphanet:662"} xref: Orphanet:662 {source="MONDO:equivalentTo", source="OMIM:153300"} xref: SCTID:400211001 {source="MONDO:equivalentTo", source="DOID:0050468"} xref: SCTID:45342007 {source="DOID:0050468"} @@ -143450,14 +143420,14 @@ synonym: "lymphedema-distichiasis syndrome" EXACT CLINGEN_PREFERRED [OMIM:153400 synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [OMIM:153400] xref: DOID:0111509 {source="MONDO:equivalentTo"} xref: GARD:0000333 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.0 {source="ORDO:33001/attributed", source="ORDO:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q82.0 {source="Orphanet:33001/attributed", source="Orphanet:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537710 {source="MONDO:equivalentTo", source="ORDO:33001/e", source="Orphanet:33001"} +xref: MESH:C537710 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"} xref: NCIT:C128191 {source="MONDO:equivalentTo"} -xref: OMIM:153400 {source="MONDO:equivalentTo", source="ORDO:33001/e", source="Orphanet:33001"} +xref: OMIM:153400 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"} xref: Orphanet:33001 {source="MONDO:equivalentTo", source="OMIM:153400"} xref: SCTID:8634009 {source="MONDO:equivalentTo"} -xref: UMLS:C0265345 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128191", source="ORDO:33001/e", source="Orphanet:33001", source="OMIM:153400"} +xref: UMLS:C0265345 {source="Orphanet:33001/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128191", source="Orphanet:33001", source="OMIM:153400"} xref: UMLS:C2675066 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:153400"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128191", source="indirect"} ! syndromic disease is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:33001", source="Orphanet:33001/inferred"} ! genetic vascular anomaly @@ -143511,13 +143481,13 @@ synonym: "Ruvalcaba-MYHRE-SMITH syndrome" EXACT [DOID:0050657] synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480] xref: DOID:0050657 {source="MONDO:equivalentTo"} xref: GARD:0005887 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:109", source="ORDO:109/attributed", source="ORDO:109/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:109", source="Orphanet:109/attributed", source="Orphanet:109/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C3939 {source="MONDO:equivalentTo"} -xref: OMIM:153480 {source="ORDO:109/e", source="MONDO:equivalentTo", source="Orphanet:109", source="DOID:0050657"} +xref: OMIM:153480 {source="MONDO:equivalentTo", source="Orphanet:109", source="DOID:0050657", source="Orphanet:109/e"} xref: Orphanet:109 {source="OMIM:153480", source="MONDO:equivalentTo"} xref: SCTID:21984008 {source="MONDO:equivalentTo"} -xref: UMLS:C0265326 {source="ORDO:109/e", source="NCBI:mim2gene_medline", source="NCIT:C3939", source="OMIM:153480", source="MONDO:equivalentTo", source="Orphanet:109"} +xref: UMLS:C0265326 {source="NCBI:mim2gene_medline", source="NCIT:C3939", source="OMIM:153480", source="MONDO:equivalentTo", source="Orphanet:109", source="Orphanet:109/e"} is_a: MONDO:0000426 {source="DOID:0050657", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0000508 {source="Orphanet:109"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:109"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -143559,7 +143529,7 @@ xref: GARD:0008723 {source="MONDO:equivalentTo", source="Orphanet-shared", sourc xref: ICDO:9986/3 {source="NCIT:C6867"} xref: MESH:C535323 {source="MONDO:equivalentTo"} xref: NCIT:C6867 {source="MONDO:equivalentTo"} -xref: OMIM:153550 {source="ORDO:86841/e", source="Orphanet:86841", source="MONDO:equivalentTo", source="DOID:0090016"} +xref: OMIM:153550 {source="Orphanet:86841", source="MONDO:equivalentTo", source="DOID:0090016", source="Orphanet:86841/e"} xref: Orphanet:86841 {source="MONDO:equivalentTo", source="DOID:0090016", source="OMIM:153550"} xref: SCTID:277597005 {source="MONDO:equivalentTo"} xref: UMLS:C0740302 {source="Orphanet:86841", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153550"} @@ -143591,13 +143561,13 @@ id: MONDO:0007927 name: congenital macroglossia subset: ordo_malformation_syndrome {source="Orphanet:2430"} synonym: "macroglossia" RELATED [OMIM:153630] -xref: ICD10CM:Q38.2 {source="Orphanet:2430", source="ORDO:2430/attributed", source="ORDO:2430/ntbt"} +xref: ICD10CM:Q38.2 {source="Orphanet:2430", source="Orphanet:2430/attributed", source="Orphanet:2430/ntbt"} xref: ICD9:750.15 {source="MONDO:equivalentTo", source="i2s"} -xref: MESH:C531735 {source="Orphanet:2430", source="ORDO:2430/e", source="MONDO:equivalentTo"} -xref: OMIM:153630 {source="Orphanet:2430", source="ORDO:2430/e", source="MONDO:equivalentTo"} +xref: MESH:C531735 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"} +xref: OMIM:153630 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"} xref: Orphanet:2430 {source="MONDO:equivalentTo", source="OMIM:153630"} xref: SCTID:270516002 {source="MONDO:equivalentTo"} -xref: UMLS:C0009677 {source="Orphanet:2430", source="ORDO:2430/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0009677 {source="Orphanet:2430", source="NCBI:mim2gene_medline", source="Orphanet:2430/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0024421 {source="MONDO:subClassOf", source="OMIM:153630"} is_a: MONDO:0015496 {source="MESH:C531735", source="Orphanet:2430"} ! macroglossia relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -143664,8 +143634,8 @@ synonym: "vitelliform macular dystrophy, type 2" NARROW [https://rarediseases.or synonym: "VMD2" RELATED ABBREVIATION [GARD:0000182, MONDO:Lexical, OMIM:153700] xref: GARD:0000182 {source="MONDO:equivalentTo"} xref: GARD:0010301 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:1243", source="ORDO:1243/inclusion", source="ORDO:1243/ntbt"} -xref: OMIM:153700 {source="ORDO:1243/e", source="Orphanet:1243", source="MONDO:equivalentTo", source="GARD:0000182"} +xref: ICD10CM:H35.5 {source="Orphanet:1243/ntbt", source="MONDO:relatedTo", source="Orphanet:1243", source="Orphanet:1243/inclusion"} +xref: OMIM:153700 {source="Orphanet:1243", source="MONDO:equivalentTo", source="Orphanet:1243/e", source="GARD:0000182"} xref: Orphanet:1243 {source="MONDO:equivalentTo", source="GARD:0000182", source="OMIM:153700"} xref: SCTID:763387005 {source="MONDO:equivalentTo"} xref: UMLS:C0339510 {source="MONDO:subClassOf", source="Orphanet:1243", source="NCBI:mim2gene_medline"} @@ -143710,7 +143680,7 @@ xref: OMIM:153840 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="MONDO:subClassOf", source="OMIM:153840"} xref: UMLS:C1835178 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153840"} is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:153840", source="indirect"} ! vitelliform macular dystrophy -is_a: MONDO:0011979 {source="ORDO:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy +is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy [Term] id: MONDO:0007934 @@ -143723,12 +143693,12 @@ synonym: "maculopathy, bull's eye" RELATED [GARD:0009887] synonym: "Mcdca" RELATED [OMIM:153870] synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870, OMIM:genemap2] xref: GARD:0009887 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:251287", source="ORDO:251287/attributed", source="ORDO:251287/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:251287/attributed", source="Orphanet:251287/ntbt", source="MONDO:relatedTo", source="Orphanet:251287"} xref: MESH:C537833 {source="MONDO:equivalentTo"} -xref: OMIM:153870 {source="Orphanet:251287", source="ORDO:251287/e", source="MONDO:equivalentTo"} +xref: OMIM:153870 {source="Orphanet:251287", source="MONDO:equivalentTo", source="Orphanet:251287/e"} xref: Orphanet:251287 {source="MONDO:equivalentTo", source="OMIM:153870"} xref: SCTID:719520001 {source="MONDO:equivalentTo"} -xref: UMLS:C1828210 {source="Orphanet:251287", source="NCBI:mim2gene_medline", source="ORDO:251287/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153870"} +xref: UMLS:C1828210 {source="Orphanet:251287", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153870", source="Orphanet:251287/e"} xref: UMLS:C4304667 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="Orphanet:251287", source="linkedlifedata"} ! genetic macular dystrophy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -143747,10 +143717,10 @@ synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:1538 synonym: "macular edema, cystoid" RELATED [OMIM:153880] synonym: "Mddc" RELATED [OMIM:153880] xref: DOID:4447 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:75381/attributed", source="ORDO:75381/ntbt", source="Orphanet:75381"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75381/attributed", source="Orphanet:75381/ntbt", source="Orphanet:75381"} xref: MESH:D008269 {source="DOID:4447"} xref: NCIT:C34794 {source="MONDO:equivalentTo", source="DOID:4447"} -xref: OMIM:153880 {source="MONDO:equivalentTo", source="ORDO:75381/e", source="DOID:4447", source="Orphanet:75381"} +xref: OMIM:153880 {source="Orphanet:75381/e", source="MONDO:equivalentTo", source="DOID:4447", source="Orphanet:75381"} xref: Orphanet:75381 {source="MONDO:equivalentTo", source="OMIM:153880"} xref: SCTID:193387007 {source="DOID:4447"} xref: SCTID:312921000 {source="MONDO:equivalentTo"} @@ -143789,9 +143759,9 @@ synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:desig synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528] xref: DOID:0060885 {source="MONDO:equivalentTo"} xref: GARD:0003350 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.4 {source="DOID:0060885", source="Orphanet:34528", source="ORDO:34528/attributed", source="ORDO:34528/ntbt"} +xref: ICD10CM:E83.4 {source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/attributed", source="Orphanet:34528/ntbt"} xref: MESH:C537152 {source="MONDO:equivalentTo"} -xref: OMIM:154020 {source="ORDO:34528/e", source="MONDO:equivalentTo", source="DOID:0060885", source="Orphanet:34528"} +xref: OMIM:154020 {source="MONDO:equivalentTo", source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/e"} xref: Orphanet:34528 {source="OMIM:154020", source="MONDO:equivalentTo", source="DOID:0060885"} xref: SCTID:725393000 {source="MONDO:equivalentTo"} xref: UMLS:C1835171 {source="OMIM:154020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34528"} @@ -143822,8 +143792,8 @@ xref: OMIM:154230 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:154230"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:154230"} xref: UMLS:C2752149 {source="NCIT:C132270", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:154230"} -is_a: MONDO:0010765 {source="MESH:C567887", source="OMIM:154230", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0010765 {source="MESH:C567887", source="OMIM:154230", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis is_a: MONDO:0020040 {source="MESH:C567887/inferred", source="MONDO:Redundant", source="NCIT:C132270", source="indirect"} ! 46,XY disorder of sex development relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -143912,13 +143882,13 @@ synonym: "preaxial manibulofacial dysostosis" RELATED [DOID:5768] synonym: "split hand deformity-mandibulofacial dysostosis" RELATED [GARD:0000498] xref: DOID:5768 {source="MONDO:equivalentTo"} xref: GARD:0000498 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.4 {source="ORDO:245/attributed", source="ORDO:245/ntbt", source="Orphanet:245"} -xref: MESH:C538184 {source="MONDO:equivalentTo", source="ORDO:245/e", source="Orphanet:245"} +xref: ICD10CM:Q75.4 {source="Orphanet:245/attributed", source="Orphanet:245/ntbt", source="Orphanet:245"} +xref: MESH:C538184 {source="Orphanet:245/e", source="MONDO:equivalentTo", source="Orphanet:245"} xref: NCIT:C35795 {source="MONDO:subClassOf", source="DOID:5768"} -xref: OMIM:154400 {source="DOID:5768", source="MONDO:equivalentTo", source="ORDO:245/e", source="Orphanet:245"} +xref: OMIM:154400 {source="Orphanet:245/e", source="DOID:5768", source="MONDO:equivalentTo", source="Orphanet:245"} xref: Orphanet:245 {source="MONDO:equivalentTo", source="OMIM:154400"} xref: SCTID:35520007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265245 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:154400", source="ORDO:245/e", source="Orphanet:245"} +xref: UMLS:C0265245 {source="Orphanet:245/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:154400", source="Orphanet:245"} xref: UMLS:C1332140 {source="MONDO:subClassOf", source="DOID:5768"} is_a: MONDO:0015161 {source="Orphanet:245", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:245"} ! branchial arch or oral-acral syndrome @@ -143944,8 +143914,8 @@ synonym: "Treacher Collins syndrome type 1" EXACT [MONDORULE:1, OMIM:154500] synonym: "Treacher Collins-Franceschetti syndrome" RELATED [OMIM:154500] synonym: "Treacher-Collins syndrome 1" EXACT CLINGEN_PREFERRED [] synonym: "Treacher-Collins syndrome caused by mutation in TCOF1" EXACT [MONDO:design_pattern] -xref: OMIM:154500 {source="MONDO:equivalentTo", source="ORDO:861/e", source="Orphanet:861"} -xref: UMLS:C0242387 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:154500", source="ORDO:861/e", source="Orphanet:861"} +xref: OMIM:154500 {source="Orphanet:861/e", source="MONDO:equivalentTo", source="Orphanet:861"} +xref: UMLS:C0242387 {source="Orphanet:861/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:154500", source="Orphanet:861"} xref: UMLS:CN119605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002457 {source="DC-OMIM:154500", source="MONDO:Redundant", source="OMIM:154500"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome @@ -143982,12 +143952,12 @@ synonym: "Maxillopalpebral synkinesis" RELATED [OMIM:154600] synonym: "pterygoid-levator synkinesis" EXACT [DOID:560] xref: DOID:560 {source="MONDO:equivalentTo"} xref: GARD:0006972 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q07.8 {source="ORDO:91412/ntbt", source="Orphanet:91412", source="DOID:560", source="ORDO:91412/inclusion"} +xref: ICD10CM:Q07.8 {source="Orphanet:91412/inclusion", source="Orphanet:91412", source="DOID:560", source="Orphanet:91412/ntbt"} xref: ICD9:374.43 {source="MONDO:equivalentTo", source="i2s", source="DOID:560"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10064583 {source="ORDO:91412/e", source="Orphanet:91412"} +xref: MedDRA:10064583 {source="Orphanet:91412", source="Orphanet:91412/e"} xref: MESH:C535908 {source="MONDO:equivalentTo", source="DOID:560"} -xref: OMIM:154600 {source="MONDO:equivalentTo", source="ORDO:91412/e", source="Orphanet:91412", source="DOID:560"} +xref: OMIM:154600 {source="MONDO:equivalentTo", source="Orphanet:91412", source="DOID:560", source="Orphanet:91412/e"} xref: Orphanet:91412 {source="MONDO:equivalentTo", source="OMIM:154600"} xref: SCTID:193949006 {source="DOID:560"} xref: SCTID:204089009 {source="DOID:560"} @@ -144016,21 +143986,21 @@ synonym: "MFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:154700, Orphanet:558] synonym: "MFS1" EXACT ABBREVIATION [Orphanet:284963] xref: DOID:14323 {source="MONDO:equivalentTo"} xref: GARD:0006975 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.4 {source="ORDO:558/e", source="ORDO:284963/attributed", source="ORDO:284963/ntbt", source="ORDO:558/specific", source="Orphanet:558", source="Orphanet:284963", source="DOID:14323"} +xref: ICD10CM:Q87.4 {source="Orphanet:558", source="Orphanet:284963/attributed", source="Orphanet:284963/ntbt", source="Orphanet:558/specific", source="Orphanet:284963", source="Orphanet:558/e", source="DOID:14323"} xref: ICD10CM:Q87.40 {source="DOID:14323"} xref: ICD9:759.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:14323"} -xref: MedDRA:10026829 {source="ORDO:558/e", source="Orphanet:558"} -xref: MESH:D008382 {source="ORDO:558/e", source="Orphanet:558", source="MONDO:equivalentTo", source="DOID:14323"} +xref: MedDRA:10026829 {source="Orphanet:558", source="Orphanet:558/e"} +xref: MESH:D008382 {source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:558/e", source="DOID:14323"} xref: NCIT:C34807 {source="MONDO:equivalentTo", source="DOID:14323"} -xref: OMIM:154700 {source="Orphanet:558", source="MONDO:equivalentTo", source="ORDO:284963/e", source="ORDO:558/btnt", source="Orphanet:284963", source="DOID:14323"} -xref: OMIM:610168 {source="MONDO:relatedTo", source="Orphanet:558", source="ORDO:558/ntbt"} +xref: OMIM:154700 {source="Orphanet:558/btnt", source="Orphanet:284963/e", source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:284963", source="DOID:14323"} +xref: OMIM:610168 {source="Orphanet:558/ntbt", source="MONDO:relatedTo", source="Orphanet:558"} xref: Orphanet:284963 {source="MONDO:equivalentTo", source="OMIM:154700"} xref: Orphanet:558 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:154700"} xref: SCTID:157024004 {source="DOID:14323"} xref: SCTID:157033002 {source="DOID:14323"} xref: SCTID:19346006 {source="MONDO:equivalentTo", source="DOID:14323"} xref: SCTID:268359006 {source="DOID:14323"} -xref: UMLS:C0024796 {source="ORDO:558/e", source="NCBI:mim2gene_medline", source="NCIT:C34807", source="Orphanet:558", source="MONDO:equivalentTo", source="DOID:14323", source="OMIM:154700"} +xref: UMLS:C0024796 {source="NCBI:mim2gene_medline", source="NCIT:C34807", source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:558/e", source="DOID:14323", source="OMIM:154700"} xref: UMLS:CN202883 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:14323", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34807", source="indirect"} ! syndromic disease @@ -144070,14 +144040,14 @@ synonym: "Marshall syndrome" EXACT [MONDO:Lexical, OMIM:154780] synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154780] xref: DOID:0111510 {source="MONDO:equivalentTo"} xref: GARD:0006984 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:560/attributed", source="ORDO:560/ntbt", source="Orphanet:560"} +xref: ICD10CM:Q87.0 {source="Orphanet:560", source="Orphanet:560/attributed", source="Orphanet:560/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536025 {source="MONDO:equivalentTo", source="ORDO:560/e", source="Orphanet:560"} +xref: MESH:C536025 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"} xref: NCIT:C128115 {source="MONDO:equivalentTo"} -xref: OMIM:154780 {source="MONDO:equivalentTo", source="ORDO:560/e", source="Orphanet:560"} +xref: OMIM:154780 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"} xref: Orphanet:560 {source="MONDO:equivalentTo", source="OMIM:154780"} xref: SCTID:33410002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128115", source="OMIM:154780", source="ORDO:560/e", source="Orphanet:560"} +xref: UMLS:C0265235 {source="Orphanet:560/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128115", source="OMIM:154780", source="Orphanet:560"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128115", source="indirect"} ! syndromic disease is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0005381 ! bone disorder @@ -144102,22 +144072,22 @@ synonym: "mastocytosis" EXACT [NCIT:C84269, OMIM:154800] synonym: "urticaria pigmentosa" RELATED [OMIM:154800] xref: DOID:350 {source="MONDO:equivalentTo"} xref: GARD:0006987 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C96.2 {source="ORDO:98292/btnt", source="Orphanet:98292"} -xref: ICD10CM:D47.0 {source="ORDO:98292/btnt", source="Orphanet:98292"} -xref: ICD10CM:Q82.2 {source="MONDO:equivalentTo", source="ORDO:98292/btnt", source="DOID:350", source="Orphanet:98292"} -xref: MedDRA:10026891 {source="ORDO:98292/e", source="Orphanet:98292"} -xref: MESH:D008415 {source="ORDO:98292/e", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292"} +xref: ICD10CM:C96.2 {source="Orphanet:98292", source="Orphanet:98292/btnt"} +xref: ICD10CM:D47.0 {source="Orphanet:98292", source="Orphanet:98292/btnt"} +xref: ICD10CM:Q82.2 {source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/btnt"} +xref: MedDRA:10026891 {source="Orphanet:98292", source="Orphanet:98292/e"} +xref: MESH:D008415 {source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/e"} xref: NCIT:C84269 {source="MONDO:equivalentTo", source="DOID:350"} -xref: OMIM:154800 {source="ORDO:98292/e", source="MONDO:superClassOf", source="DOID:350", source="Orphanet:98292"} +xref: OMIM:154800 {source="MONDO:superClassOf", source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/e"} xref: ONCOTREE:MCD {source="MONDO:equivalentTo"} xref: Orphanet:79457 {source="MONDO:superClassOf", source="OMIM:154800"} xref: Orphanet:98292 {source="MONDO:equivalentTo", source="OMIM:154800"} xref: SCTID:125541005 {source="DOID:350"} xref: SCTID:397007003 {source="DOID:350"} xref: SCTID:78745000 {source="MONDO:superClassOf", source="DOID:350"} -xref: UMLS:C0024899 {source="ORDO:98292/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="NCIT:C84269", source="OMIM:154800"} +xref: UMLS:C0024899 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="NCIT:C84269", source="OMIM:154800", source="Orphanet:98292/e"} xref: UMLS:C0042111 {source="MONDO:superClassOf", source="OMIM:154800"} -xref: UMLS:C0334664 {source="MONDO:subClassOf", source="ORDO:98292/e", source="Orphanet:98292"} +xref: UMLS:C0334664 {source="MONDO:subClassOf", source="Orphanet:98292", source="Orphanet:98292/e"} is_a: MONDO:0002724 {source="NCIT:C84269"} ! mast cell neoplasm is_a: MONDO:0004805 {source="DOID:350"} ! leukocyte disorder is_a: MONDO:0019044 {source="Orphanet:98292"} ! tumor of hematopoietic and lymphoid tissues @@ -144160,9 +144130,9 @@ synonym: "maxillonasal dysplasia" RELATED [Orphanet:1248] synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [OMIM:155050] xref: DOID:14683 {source="MONDO:equivalentTo"} xref: GARD:0006992 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:1248/attributed", source="ORDO:1248/ntbt", source="Orphanet:1248"} +xref: ICD10CM:Q75.8 {source="Orphanet:1248", source="Orphanet:1248/attributed", source="Orphanet:1248/ntbt"} xref: MESH:C536036 {source="MONDO:equivalentTo", source="DOID:14683"} -xref: OMIM:155050 {source="MONDO:equivalentTo", source="Orphanet:1248", source="ORDO:1248/e", source="DOID:14683"} +xref: OMIM:155050 {source="MONDO:equivalentTo", source="Orphanet:1248", source="DOID:14683", source="Orphanet:1248/e"} xref: Orphanet:1248 {source="OMIM:155050", source="MONDO:equivalentTo"} xref: SCTID:715985008 {source="MONDO:equivalentTo"} xref: UMLS:C0220692 {source="OMIM:155050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1248", source="DOID:14683"} @@ -144221,12 +144191,12 @@ synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439] synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145] xref: GARD:0003439 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1993", source="ORDO:1993/attributed", source="ORDO:1993/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1993/attributed", source="Orphanet:1993/ntbt", source="Orphanet:1993"} xref: MESH:C536135 {source="MONDO:equivalentTo"} -xref: OMIM:155145 {source="ORDO:1993/e", source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439"} +xref: OMIM:155145 {source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="Orphanet:1993/e"} xref: Orphanet:1993 {source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"} xref: SCTID:722201004 {source="MONDO:equivalentTo"} -xref: UMLS:C1835087 {source="ORDO:1993/e", source="NCBI:mim2gene_medline", source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"} +xref: UMLS:C1835087 {source="NCBI:mim2gene_medline", source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145", source="Orphanet:1993/e"} is_a: MONDO:0015335 {source="Orphanet:1993"} ! orofacial clefting syndrome is_a: MONDO:0016643 {source="Orphanet:1993", source="linkedlifedata"} ! frontonasal dysplasia property_value: confidence "9.0" xsd:double @@ -144255,12 +144225,12 @@ synonym: "MTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155240] synonym: "Mtc1" RELATED [OMIM:155240] synonym: "thyroid carcinoma, familial medullary" EXACT [DOID:0050547, MONDO:Lexical, OMIM:155240] xref: DOID:0050547 {source="MONDO:equivalentTo"} -xref: ICD10CM:C73 {source="ORDO:99361/attributed", source="ORDO:99361/ntbt", source="Orphanet:99361"} -xref: MESH:C536911 {source="MONDO:equivalentTo", source="ORDO:99361/e", source="Orphanet:99361"} -xref: OMIM:155240 {source="MONDO:equivalentTo", source="ORDO:99361/e", source="DOID:0050547", source="Orphanet:99361"} +xref: ICD10CM:C73 {source="Orphanet:99361/attributed", source="Orphanet:99361/ntbt", source="Orphanet:99361"} +xref: MESH:C536911 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="Orphanet:99361"} +xref: OMIM:155240 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="DOID:0050547", source="Orphanet:99361"} xref: Orphanet:653 {source="MONDO:subClassOf", source="OMIM:155240"} xref: Orphanet:99361 {source="OMIM:155240", source="MONDO:equivalentTo"} -xref: UMLS:C1833921 {source="NCBI:mim2gene_medline", source="OMIM:155240", source="MONDO:equivalentTo", source="ORDO:99361/e", source="Orphanet:99361"} +xref: UMLS:C1833921 {source="Orphanet:99361/e", source="NCBI:mim2gene_medline", source="OMIM:155240", source="MONDO:equivalentTo", source="Orphanet:99361"} is_a: MONDO:0015277 {source="DOID:0050547", source="MONDO:Redundant"} ! medullary thyroid gland carcinoma is_a: MONDO:0019003 {source="Orphanet:99361"} ! multiple endocrine neoplasia type 2 intersection_of: MONDO:0015277 ! medullary thyroid gland carcinoma @@ -144294,13 +144264,13 @@ xref: DOID:0050902 {source="EFO:0002939", source="MONDO:equivalentTo", source="M xref: DOID:0060104 {source="MONDO:equivalentTo"} xref: EFO:0002939 {source="MONDO:equivalentTo"} xref: GARD:0007005 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.6 {source="ORDO:616/ntbt", source="Orphanet:616"} +xref: ICD10CM:C71.6 {source="Orphanet:616", source="Orphanet:616/ntbt"} xref: ICDO:9470/3 {source="NCIT:C3222"} -xref: MedDRA:10027107 {source="ORDO:616/e", source="Orphanet:616"} -xref: MESH:D008527 {source="EFO:0002939", source="ORDO:616/e", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902"} +xref: MedDRA:10027107 {source="Orphanet:616", source="Orphanet:616/e"} +xref: MESH:D008527 {source="EFO:0002939", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902", source="Orphanet:616/e"} xref: MESH:D018242 {source="DOID:0050902"} xref: NCIT:C3222 {source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"} -xref: OMIM:155255 {source="EFO:0002939", source="ORDO:616/e", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902"} +xref: OMIM:155255 {source="EFO:0002939", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902", source="Orphanet:616/e"} xref: ONCOTREE:MBL {source="MONDO:equivalentTo"} xref: Orphanet:251858 {source="MONDO:superClassOf", source="OMIM:155255"} xref: Orphanet:251863 {source="MONDO:superClassOf", source="OMIM:155255"} @@ -144314,7 +144284,7 @@ xref: SCTID:443333004 {source="EFO:0002939", source="MONDO:equivalentTo", source xref: SCTID:55045006 {source="DOID:0050902"} xref: SCTID:699028006 {source="DOID:0050902"} xref: SCTID:83217000 {source="EFO:0002939", source="DOID:0050902"} -xref: UMLS:C0025149 {source="NCBI:mim2gene_medline", source="ORDO:616/e", source="MONDO:equivalentTo", source="NCIT:C3222", source="Orphanet:616", source="OMIM:155255", source="DOID:0050902"} +xref: UMLS:C0025149 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3222", source="Orphanet:616", source="OMIM:155255", source="DOID:0050902", source="Orphanet:616/e"} xref: UMLS:C0206663 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050902"} xref: UMLS:C0751291 {source="MONDO:superClassOf", source="OMIM:155255"} xref: UMLS:C1334410 {source="MONDO:equivalentTo", source="DOID:0050902"} @@ -144344,7 +144314,7 @@ xref: OMIM:155350 {source="MONDO:equivalentTo"} xref: Orphanet:2477 {source="MONDO:subClassOf", source="OMIM:155350"} xref: UMLS:C2720434 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3805727 {source="OMIM:155350", source="MONDO:equivalentTo"} -is_a: MONDO:0016608 {source="ORDO:2477/btnt"} ! megalencephaly +is_a: MONDO:0016608 {source="Orphanet:2477/btnt"} ! megalencephaly property_value: confidence "39.000000000000085" xsd:double [Term] @@ -144382,7 +144352,7 @@ xref: Orphanet:618 {source="MONDO:subClassOf", source="MONDO:superClassOf", sour xref: SCTID:254819008 {source="MONDO:equivalentTo"} xref: UMLS:C0151779 {source="MONDO:relatedTo", source="OMIM:155600"} xref: UMLS:C1835047 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:155600"} -is_a: MONDO:0018453 {source="ORDO:404560/btnt"} ! familial atypical multiple mole melanoma syndrome +is_a: MONDO:0018453 {source="Orphanet:404560/btnt"} ! familial atypical multiple mole melanoma syndrome is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:155600"} ! familial cutaneous melanoma intersection_of: MONDO:0024462 ! familial cutaneous melanoma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9588 ! PTEN @@ -144413,7 +144383,7 @@ xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:155601"} xref: UMLS:C0205747 {source="MONDO:notFoundInDiseaseSubset", source="DOID:10041"} xref: UMLS:C1835044 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:155601"} is_a: MONDO:0000426 {source="DOID:10041", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0018961 {source="MONDO:Redundant", source="ORDO:618/btnt", source="indirect"} ! familial melanoma +is_a: MONDO:0018961 {source="MONDO:Redundant", source="Orphanet:618/btnt", source="indirect"} ! familial melanoma is_a: MONDO:0020573 {source="OMIM:155601"} ! inherited disease susceptibility is_a: MONDO:0024462 {source="OMIM", source="OMIM:155601"} ! familial cutaneous melanoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1787 {source="mim2gene_medgen"} ! CDKN2A @@ -144429,7 +144399,7 @@ xref: MESH:C563596 {source="MONDO:equivalentTo"} xref: OMIM:155700 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:155700"} xref: UMLS:C1835043 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155700"} -is_a: MONDO:0018961 {source="ORDO:618/btnt"} ! familial melanoma +is_a: MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma property_value: confidence "1.6325000000000003" xsd:double [Term] @@ -144454,10 +144424,10 @@ synonym: "melanoma-astrocytoma syndrome" EXACT [OMIM:155755, Orphanet:252206] xref: DOID:0111511 {source="MONDO:equivalentTo"} xref: GARD:0008468 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536149 {source="MONDO:equivalentTo"} -xref: OMIM:155755 {source="MONDO:equivalentTo", source="Orphanet:252206", source="ORDO:252206/e"} +xref: OMIM:155755 {source="Orphanet:252206/e", source="MONDO:equivalentTo", source="Orphanet:252206"} xref: Orphanet:252206 {source="MONDO:equivalentTo", source="OMIM:155755"} xref: SCTID:717968005 {source="MONDO:equivalentTo"} -xref: UMLS:C1835042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:252206", source="ORDO:252206/e", source="OMIM:155755"} +xref: UMLS:C1835042 {source="Orphanet:252206/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:252206", source="OMIM:155755"} is_a: MONDO:0015356 {source="Orphanet:252206", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:252206"} ! inherited nervous system cancer-predisposing syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1787 {source="mim2gene_medgen"} ! CDKN2A @@ -144490,16 +144460,16 @@ synonym: "MRS" RELATED ABBREVIATION [GARD:0007010] xref: DOID:1761 {source="MONDO:equivalentTo", source="EFO:1001039"} xref: EFO:1001039 {source="MONDO:equivalentTo"} xref: GARD:0007010 {source="MONDO:equivalentTo"} -xref: ICD10CM:G51.2 {source="DOID:1761", source="Orphanet:2483", source="ORDO:2483/e"} -xref: MedDRA:10027166 {source="EFO:1001039", source="Orphanet:2483", source="ORDO:2483/e"} -xref: MESH:D008556 {source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039", source="Orphanet:2483", source="ORDO:2483/e"} +xref: ICD10CM:G51.2 {source="Orphanet:2483/e", source="DOID:1761", source="Orphanet:2483"} +xref: MedDRA:10027166 {source="Orphanet:2483/e", source="EFO:1001039", source="Orphanet:2483"} +xref: MESH:D008556 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039", source="Orphanet:2483"} xref: NCIT:C84886 {source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039"} -xref: OMIM:155900 {source="DOID:1761", source="MONDO:equivalentTo", source="Orphanet:2483", source="ORDO:2483/e"} +xref: OMIM:155900 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="Orphanet:2483"} xref: Orphanet:2483 {source="MONDO:equivalentTo", source="OMIM:155900"} xref: SCTID:215617000 {source="DOID:1761"} xref: SCTID:2511001 {source="DOID:1761"} xref: SCTID:37770007 {source="DOID:1761"} -xref: UMLS:C0025235 {source="NCIT:C84886", source="DOID:1761", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155900", source="Orphanet:2483", source="ORDO:2483/e"} +xref: UMLS:C0025235 {source="NCIT:C84886", source="Orphanet:2483/e", source="DOID:1761", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155900", source="Orphanet:2483"} is_a: MONDO:0002098 {source="DOID:1761", source="MESH:D008556"} ! facial nerve disorder is_a: MONDO:0002102 {source="DOID:1761"} ! cheilitis is_a: MONDO:0002254 {source="NCIT:C84886"} ! syndromic disease @@ -144519,16 +144489,16 @@ synonym: "melorheostosis, isolated" RELATED [OMIM:155950] synonym: "melorheostosis, isolated, somatic mosaic" EXACT [OMIM:155950, OMIM:genemap2] xref: DOID:4253 {source="MONDO:equivalentTo"} xref: GARD:0009474 {source="MONDO:equivalentTo"} -xref: ICD10CM:M85.8 {source="Orphanet:2485", source="ORDO:2485/ntbt", source="ORDO:2485/index"} +xref: ICD10CM:M85.8 {source="Orphanet:2485", source="Orphanet:2485/index", source="Orphanet:2485/ntbt"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050284 {source="Orphanet:2485", source="ORDO:2485/e"} -xref: MESH:D008557 {source="Orphanet:2485", source="ORDO:2485/e", source="MONDO:equivalentTo", source="DOID:4253"} +xref: MedDRA:10050284 {source="Orphanet:2485", source="Orphanet:2485/e"} +xref: MESH:D008557 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"} xref: NCIT:C84887 {source="MONDO:equivalentTo", source="DOID:4253"} -xref: OMIM:155950 {source="Orphanet:2485", source="ORDO:2485/e", source="MONDO:equivalentTo", source="DOID:4253"} +xref: OMIM:155950 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"} xref: Orphanet:2485 {source="MONDO:equivalentTo", source="OMIM:155950"} xref: SCTID:240173003 {source="DOID:4253"} xref: SCTID:44697002 {source="MONDO:equivalentTo", source="DOID:4253"} -xref: UMLS:C0025239 {source="NCIT:C84887", source="Orphanet:2485", source="ORDO:2485/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4253"} +xref: UMLS:C0025239 {source="NCIT:C84887", source="Orphanet:2485", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"} xref: UMLS:C3149631 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:155950"} is_a: MONDO:0017198 {source="Orphanet:2485"} ! osteopetrosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28887 {source="mim2gene_medgen"} ! LEMD3 @@ -144546,9 +144516,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3034"} synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034] synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980] xref: GARD:0001727 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.8 {source="Orphanet:3034", source="ORDO:3034/attributed", source="ORDO:3034/ntbt"} +xref: ICD10CM:Q75.8 {source="Orphanet:3034", source="Orphanet:3034/attributed", source="Orphanet:3034/ntbt"} xref: MESH:C563592 {source="MONDO:equivalentTo"} -xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="ORDO:3034/e"} +xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="Orphanet:3034/e"} xref: Orphanet:3034 {source="MONDO:equivalentTo", source="OMIM:155980"} xref: SCTID:715524004 {source="MONDO:equivalentTo"} xref: UMLS:C1835030 {source="Orphanet:3034", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155980"} @@ -144661,13 +144631,13 @@ synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:15623 synonym: "mesomelic dysplasia, Thai type" EXACT [OMIM:156232, Orphanet:1836] synonym: "MMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156232] xref: GARD:0003074 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:1836/attributed", source="ORDO:1836/ntbt", source="Orphanet:1836"} -xref: MESH:C535547 {source="MONDO:equivalentTo", source="ORDO:1836/e", source="Orphanet:1836"} -xref: OMIM:156232 {source="MONDO:equivalentTo", source="ORDO:1836/e", source="Orphanet:1836"} -xref: OMIM:613681 {source="ORDO:1836/btnt", source="MONDO:superClassOf", source="Orphanet:1836"} +xref: ICD10CM:Q78.8 {source="Orphanet:1836/attributed", source="Orphanet:1836/ntbt", source="Orphanet:1836"} +xref: MESH:C535547 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"} +xref: OMIM:156232 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"} +xref: OMIM:613681 {source="MONDO:superClassOf", source="Orphanet:1836/btnt", source="Orphanet:1836"} xref: Orphanet:1836 {source="MONDO:equivalentTo", source="OMIM:156232"} xref: SCTID:719397009 {source="MONDO:equivalentTo"} -xref: UMLS:C1835009 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156232", source="ORDO:1836/e", source="Orphanet:1836"} +xref: UMLS:C1835009 {source="Orphanet:1836/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156232", source="Orphanet:1836"} is_a: MONDO:0019697 {source="Orphanet:1836"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "1.2178571428571425" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type xsd:anyURI {source="GARD:0003074"} @@ -144689,13 +144659,13 @@ synonym: "metachondromatosis" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:15625 synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156250] xref: DOID:0111512 {source="MONDO:equivalentTo"} xref: GARD:0003560 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.4 {source="Orphanet:2499", source="ORDO:2499/attributed", source="ORDO:2499/ntbt"} +xref: ICD10CM:Q78.4 {source="Orphanet:2499/attributed", source="Orphanet:2499/ntbt", source="Orphanet:2499"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562938 {source="MONDO:equivalentTo"} -xref: OMIM:156250 {source="ORDO:2499/e", source="Orphanet:2499", source="MONDO:equivalentTo"} +xref: OMIM:156250 {source="Orphanet:2499", source="MONDO:equivalentTo", source="Orphanet:2499/e"} xref: Orphanet:2499 {source="OMIM:156250", source="MONDO:equivalentTo"} xref: SCTID:205481009 {source="MONDO:equivalentTo"} -xref: UMLS:C0410530 {source="ORDO:2499/e", source="OMIM:156250", source="NCBI:mim2gene_medline", source="Orphanet:2499", source="MONDO:equivalentTo"} +xref: UMLS:C0410530 {source="OMIM:156250", source="NCBI:mim2gene_medline", source="Orphanet:2499", source="MONDO:equivalentTo", source="Orphanet:2499/e"} is_a: MONDO:0003847 {source="OMIM:156250"} ! Mendelian disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9644 {source="mim2gene_medgen"} ! PTPN11 relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2499"} ! obsolete primary bone dysplasia with disorganized development of skeletal components @@ -144719,7 +144689,7 @@ xref: MESH:C563587 {source="MONDO:equivalentTo"} xref: OMIM:156310 {source="MONDO:equivalentTo"} xref: Orphanet:512 {source="MONDO:subClassOf", source="OMIM:156310"} xref: UMLS:C1835007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156310"} -is_a: MONDO:0018868 {source="MESH:C563587", source="ORDO:512/btnt"} ! metachromatic leukodystrophy +is_a: MONDO:0018868 {source="MESH:C563587", source="Orphanet:512/btnt"} ! metachromatic leukodystrophy property_value: confidence "0.0" xsd:double [Term] @@ -144739,13 +144709,13 @@ synonym: "metaphyseal chondrodysplasia, murk Jansen type" RELATED [OMIM:156400] synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GARD:0000079] xref: DOID:0080020 {source="MONDO:equivalentTo"} xref: GARD:0000079 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.5 {source="ORDO:33067/attributed", source="ORDO:33067/ntbt", source="Orphanet:33067"} -xref: MESH:C537564 {source="MONDO:equivalentTo", source="ORDO:33067/e", source="Orphanet:33067"} +xref: ICD10CM:Q78.5 {source="Orphanet:33067/attributed", source="Orphanet:33067/ntbt", source="Orphanet:33067"} +xref: MESH:C537564 {source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"} xref: NCIT:C131868 {source="MONDO:equivalentTo"} -xref: OMIM:156400 {source="GARD:0000079", source="MONDO:equivalentTo", source="ORDO:33067/e", source="Orphanet:33067"} +xref: OMIM:156400 {source="GARD:0000079", source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"} xref: Orphanet:33067 {source="GARD:0000079", source="MONDO:equivalentTo", source="OMIM:156400"} xref: SCTID:24629003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265295 {source="GARD:0000079", source="NCIT:C131868", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156400", source="ORDO:33067/e", source="Orphanet:33067"} +xref: UMLS:C0265295 {source="GARD:0000079", source="NCIT:C131868", source="Orphanet:33067/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156400", source="Orphanet:33067"} is_a: MONDO:0019693 {source="Orphanet:33067"} ! multiple metaphyseal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9608 {source="mim2gene_medgen"} ! PTH1R relationship: disease_has_feature HP:0008873 ! Disproportionate short-limb short stature @@ -144766,12 +144736,12 @@ synonym: "Schmid type metaphyseal dysplasia" EXACT [DOID:0080021] synonym: "spondylometaphyseal dysplasia, Japanese type" RELATED [OMIM:156500] xref: DOID:0080021 {source="MONDO:equivalentTo"} xref: GARD:0007029 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.5 {source="ORDO:174/attributed", source="ORDO:174/ntbt", source="Orphanet:174"} -xref: MESH:C537352 {source="MONDO:equivalentTo", source="ORDO:174/e", source="Orphanet:174"} -xref: OMIM:156500 {source="DOID:0080021", source="MONDO:equivalentTo", source="ORDO:174/e", source="Orphanet:174"} +xref: ICD10CM:Q78.5 {source="Orphanet:174/attributed", source="Orphanet:174/ntbt", source="Orphanet:174"} +xref: MESH:C537352 {source="Orphanet:174/e", source="MONDO:equivalentTo", source="Orphanet:174"} +xref: OMIM:156500 {source="Orphanet:174/e", source="DOID:0080021", source="MONDO:equivalentTo", source="Orphanet:174"} xref: Orphanet:174 {source="MONDO:equivalentTo", source="OMIM:156500"} xref: SCTID:29248006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265289 {source="NCBI:mim2gene_medline", source="ORDO:174/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156500", source="Orphanet:174"} +xref: UMLS:C0265289 {source="Orphanet:174/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156500", source="Orphanet:174"} is_a: MONDO:0019693 {source="Orphanet:174"} ! multiple metaphyseal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2185 {source="mim2gene_medgen"} ! COL10A1 relationship: disease_has_feature HP:0003510 ! Severe short stature @@ -144790,8 +144760,8 @@ synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" RELATED [GAR synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical, OMIM:156510] xref: DOID:0111513 {source="MONDO:equivalentTo"} xref: GARD:0003568 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:2504/attributed", source="ORDO:2504/ntbt", source="Orphanet:2504"} -xref: OMIM:156510 {source="GARD:0003568", source="MONDO:equivalentTo", source="Orphanet:2504", source="ORDO:2504/e"} +xref: ICD10CM:Q77.8 {source="Orphanet:2504", source="Orphanet:2504/attributed", source="Orphanet:2504/ntbt"} +xref: OMIM:156510 {source="GARD:0003568", source="MONDO:equivalentTo", source="Orphanet:2504", source="Orphanet:2504/e"} xref: Orphanet:2504 {source="GARD:0003568", source="MONDO:equivalentTo", source="OMIM:156510"} xref: UMLS:C1834969 {source="GARD:0003568", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3549874 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:156510"} @@ -144821,12 +144791,12 @@ synonym: "metatropic dysplasia" EXACT CLINGEN_PREFERRED [OMIM:156530] synonym: "Metatropic dysplasia, nonlethal dominant" RELATED [GARD:0003571] xref: DOID:0111514 {source="MONDO:equivalentTo"} xref: GARD:0003571 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:2635/attributed", source="ORDO:2635/ntbt", source="Orphanet:2635"} -xref: MESH:C537356 {source="MONDO:equivalentTo", source="ORDO:2635/e", source="Orphanet:2635"} -xref: OMIM:156530 {source="MONDO:equivalentTo", source="ORDO:2635/e", source="Orphanet:2635"} +xref: ICD10CM:Q77.8 {source="Orphanet:2635", source="Orphanet:2635/attributed", source="Orphanet:2635/ntbt"} +xref: MESH:C537356 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"} +xref: OMIM:156530 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"} xref: Orphanet:2635 {source="MONDO:equivalentTo", source="OMIM:156530"} xref: SCTID:22764001 {source="MONDO:equivalentTo"} -xref: UMLS:C0265281 {source="NCBI:mim2gene_medline", source="OMIM:156530", source="ORDO:2635/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2635"} +xref: UMLS:C0265281 {source="NCBI:mim2gene_medline", source="OMIM:156530", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2635", source="Orphanet:2635/e"} is_a: MONDO:0016761 {source="Orphanet:2635"} ! spondyloepiphyseal dysplasia is_a: MONDO:0018240 {source="Orphanet:2635"} ! TRPV4-related bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18083 {source="mim2gene_medgen"} ! TRPV4 @@ -144842,14 +144812,14 @@ subset: ordo_disease {source="Orphanet:485"} synonym: "Kniest dysplasia" EXACT [OMIM:156550] xref: DOID:0080045 {source="MONDO:equivalentTo"} xref: GARD:0006841 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:485/attributed", source="ORDO:485/ntbt", source="Orphanet:485"} +xref: ICD10CM:Q77.7 {source="Orphanet:485/attributed", source="Orphanet:485/ntbt", source="Orphanet:485"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537207 {source="MONDO:equivalentTo", source="ORDO:485/e", source="Orphanet:485"} +xref: MESH:C537207 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"} xref: NCIT:C125594 {source="MONDO:equivalentTo"} -xref: OMIM:156550 {source="MONDO:equivalentTo", source="ORDO:485/e", source="Orphanet:485"} +xref: OMIM:156550 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"} xref: Orphanet:485 {source="OMIM:156550", source="MONDO:equivalentTo"} xref: SCTID:53974002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265279 {source="OMIM:156550", source="NCBI:mim2gene_medline", source="NCIT:C125594", source="MONDO:equivalentTo", source="ORDO:485/e", source="Orphanet:485"} +xref: UMLS:C0265279 {source="Orphanet:485/e", source="OMIM:156550", source="NCBI:mim2gene_medline", source="NCIT:C125594", source="MONDO:equivalentTo", source="Orphanet:485"} is_a: MONDO:0005516 {source="DOID:0080045", source="MESH:C537207", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0016761 {source="Orphanet:485"} ! spondyloepiphyseal dysplasia is_a: MONDO:0016763 {source="OMIM:156550"} ! spondylometaphyseal dysplasia @@ -144877,12 +144847,12 @@ synonym: "microcephaly with autosomal dominant inheritance" RELATED [GARD:000360 synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580] xref: DOID:14725 {source="MONDO:equivalentTo"} xref: GARD:0003605 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q02 {source="ORDO:2514/attributed", source="ORDO:2514/ntbt", source="Orphanet:2514"} -xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="ORDO:2514/e", source="Orphanet:2514"} -xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="ORDO:2514/e", source="Orphanet:2514"} -xref: OMIM:616311 {source="MONDO:relatedTo", source="ORDO:2514/btnt", source="Orphanet:2514"} +xref: ICD10CM:Q02 {source="Orphanet:2514", source="Orphanet:2514/attributed", source="Orphanet:2514/ntbt"} +xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} +xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} +xref: OMIM:616311 {source="MONDO:relatedTo", source="Orphanet:2514", source="Orphanet:2514/btnt"} xref: Orphanet:2514 {source="OMIM:156580", source="MONDO:equivalentTo"} -xref: UMLS:C0220693 {source="DOID:14725", source="MONDO:relatedTo", source="OMIM:156580", source="NCBI:mim2gene_medline", source="ORDO:2514/e", source="Orphanet:2514", source="https://orcid.org/0000-0001-5493-2602"} +xref: UMLS:C0220693 {source="DOID:14725", source="MONDO:relatedTo", source="OMIM:156580", source="NCBI:mim2gene_medline", source="Orphanet:2514", source="https://orcid.org/0000-0001-5493-2602", source="Orphanet:2514/e"} xref: UMLS:C4755316 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} is_a: MONDO:0000426 {source="DOID:14725", source="MONDO:Entailed", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015160 {source="Orphanet:2514", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -144908,11 +144878,11 @@ synonym: "microcoria, congenital" RELATED [OMIM:156600] synonym: "miosis, congenital" RELATED [OMIM:156600] synonym: "pinhole pupils" RELATED [GARD:0003635] xref: GARD:0003635 {source="MONDO:equivalentTo"} -xref: MESH:C537550 {source="Orphanet:566", source="MONDO:equivalentTo", source="ORDO:566/e"} -xref: OMIM:156600 {source="Orphanet:566", source="MONDO:equivalentTo", source="ORDO:566/e"} +xref: MESH:C537550 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"} +xref: OMIM:156600 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"} xref: Orphanet:566 {source="MONDO:equivalentTo", source="OMIM:156600"} xref: SCTID:400962005 {source="MONDO:equivalentTo"} -xref: UMLS:C1303009 {source="Orphanet:566", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156600", source="ORDO:566/e"} +xref: UMLS:C1303009 {source="Orphanet:566", source="NCBI:mim2gene_medline", source="Orphanet:566/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156600"} is_a: MONDO:0011119 {source="Orphanet:566"} ! iridogoniodysgenesis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -144932,12 +144902,12 @@ synonym: "Kunze-Riehm syndrome" EXACT [Orphanet:2505] synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610] synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610] xref: GARD:0003589 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:2505/attributed", source="ORDO:2505/ntbt", source="Orphanet:2505"} -xref: MESH:C537575 {source="MONDO:equivalentTo", source="ORDO:2505/e", source="Orphanet:2505"} -xref: OMIM:156610 {source="MONDO:superClassOf", source="ORDO:2505/e", source="Orphanet:2505"} -xref: OMIM:616734 {source="ORDO:2505/btnt", source="MONDO:superClassOf", source="Orphanet:2505"} +xref: ICD10CM:Q82.8 {source="Orphanet:2505/attributed", source="Orphanet:2505/ntbt", source="Orphanet:2505"} +xref: MESH:C537575 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} +xref: OMIM:156610 {source="Orphanet:2505/e", source="MONDO:superClassOf", source="Orphanet:2505"} +xref: OMIM:616734 {source="MONDO:superClassOf", source="Orphanet:2505/btnt", source="Orphanet:2505"} xref: Orphanet:2505 {source="MONDO:equivalentTo", source="OMIM:156610"} -xref: UMLS:C0473586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2505/e", source="OMIM:156610", source="Orphanet:2505"} +xref: UMLS:C0473586 {source="Orphanet:2505/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156610", source="Orphanet:2505"} is_a: MONDO:0005093 {source="Orphanet:2505", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder property_value: confidence "2.31578947368421" xsd:double @@ -144953,9 +144923,9 @@ synonym: "microcephaly-deafness syndrome" RELATED [OMIM:156620] synonym: "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies" RELATED [GARD:0000230] synonym: "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" RELATED DEPRECATED [GARD:0000230] xref: GARD:0000230 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2533", source="ORDO:2533/attributed", source="ORDO:2533/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2533/attributed", source="Orphanet:2533/ntbt", source="Orphanet:2533"} xref: MESH:C537326 {source="MONDO:equivalentTo"} -xref: OMIM:156620 {source="Orphanet:2533", source="ORDO:2533/e", source="MONDO:equivalentTo"} +xref: OMIM:156620 {source="Orphanet:2533", source="MONDO:equivalentTo", source="Orphanet:2533/e"} xref: Orphanet:2533 {source="MONDO:equivalentTo", source="OMIM:156620"} xref: SCTID:716112005 {source="MONDO:equivalentTo"} xref: UMLS:C0796062 {source="Orphanet:2533", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156620"} @@ -144973,11 +144943,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2536"} synonym: "hereditary microcornea, glaucoma, and absent frontal sinuses" RELATED [GARD:0003637] synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [OMIM:156700] xref: GARD:0003637 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q15.8 {source="ORDO:2536/attributed", source="ORDO:2536/ntbt", source="Orphanet:2536"} -xref: MESH:C537552 {source="MONDO:equivalentTo", source="ORDO:2536/e", source="Orphanet:2536"} -xref: OMIM:156700 {source="MONDO:equivalentTo", source="ORDO:2536/e", source="Orphanet:2536"} +xref: ICD10CM:Q15.8 {source="Orphanet:2536", source="Orphanet:2536/attributed", source="Orphanet:2536/ntbt"} +xref: MESH:C537552 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"} +xref: OMIM:156700 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"} xref: Orphanet:2536 {source="MONDO:equivalentTo", source="OMIM:156700"} -xref: UMLS:C1834935 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2536/e", source="Orphanet:2536", source="OMIM:156700"} +xref: UMLS:C1834935 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2536", source="OMIM:156700", source="Orphanet:2536/e"} is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder property_value: confidence "8.6" xsd:double @@ -144991,11 +144961,11 @@ synonym: "microgastria limb reduction defect" RELATED [GARD:0003640] synonym: "microgastria-limb reduction defects association" RELATED [MONDO:Lexical, OMIM:156810] synonym: "MLRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156810] xref: GARD:0003640 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2538/ntbt", source="Orphanet:2538"} -xref: MESH:C537554 {source="MONDO:equivalentTo", source="ORDO:2538/e", source="Orphanet:2538"} -xref: OMIM:156810 {source="MONDO:equivalentTo", source="ORDO:2538/e", source="Orphanet:2538"} +xref: ICD10CM:Q87.8 {source="Orphanet:2538/ntbt", source="Orphanet:2538"} +xref: MESH:C537554 {source="Orphanet:2538/e", source="MONDO:equivalentTo", source="Orphanet:2538"} +xref: OMIM:156810 {source="Orphanet:2538/e", source="MONDO:equivalentTo", source="Orphanet:2538"} xref: Orphanet:2538 {source="MONDO:equivalentTo", source="OMIM:156810"} -xref: UMLS:C1834929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2538/e", source="Orphanet:2538", source="OMIM:156810"} +xref: UMLS:C1834929 {source="Orphanet:2538/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2538", source="OMIM:156810"} is_a: MONDO:0015160 {source="Orphanet:2538"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015210 {source="Orphanet:2538"} ! syndromic gastroduodenal malformation property_value: confidence "8.6" xsd:double @@ -145009,7 +144979,7 @@ xref: OMIM:156830 {source="MONDO:equivalentTo"} xref: Orphanet:2655 {source="MONDO:subClassOf", source="OMIM:156830"} xref: Orphanet:93274 {source="MONDO:subClassOf", source="OMIM:156830"} xref: UMLS:C1834928 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156830"} -is_a: MONDO:0008547 {source="ORDO:93274/btnt"} ! thanatophoric dysplasia type 2 +is_a: MONDO:0008547 {source="Orphanet:93274/btnt"} ! thanatophoric dysplasia type 2 property_value: confidence "0.25000000000000044" xsd:double [Term] @@ -145026,7 +144996,7 @@ xref: OMIM:156850 {source="MONDO:equivalentTo"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="OMIM:156850"} xref: UMLS:C1834919 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:156850"} is_a: MONDO:0000169 {source="DC-OMIM:156850"} ! microphthalmia, isolated, with cataract -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome property_value: confidence "1.9907692307692297" xsd:double [Term] @@ -145063,11 +145033,11 @@ synonym: "microspherophakia-metaphyseal dysplasia" RELATED [OMIM:157151] synonym: "Verloes Van Maldergem Marneffe syndrome" RELATED [GARD:0005481] synonym: "Verloes-Van Maldergem-de Marneffe syndrome" EXACT [Orphanet:2551] xref: GARD:0005481 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.5 {source="Orphanet:2551", source="ORDO:2551/attributed", source="ORDO:2551/ntbt"} +xref: ICD10CM:Q87.5 {source="Orphanet:2551", source="Orphanet:2551/attributed", source="Orphanet:2551/ntbt"} xref: MESH:C536540 {source="MONDO:equivalentTo"} -xref: OMIM:157151 {source="Orphanet:2551", source="ORDO:2551/e", source="MONDO:equivalentTo"} +xref: OMIM:157151 {source="Orphanet:2551", source="MONDO:equivalentTo", source="Orphanet:2551/e"} xref: Orphanet:2551 {source="OMIM:157151", source="MONDO:equivalentTo"} -xref: UMLS:C1834880 {source="OMIM:157151", source="Orphanet:2551", source="ORDO:2551/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1834880 {source="OMIM:157151", source="Orphanet:2551", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2551/e"} is_a: MONDO:0003847 {source="GARD:0005481", source="OMIM:157151"} ! Mendelian disease relationship: excluded_subClassOf MONDO:0020235 {source="Orphanet:2551"} ! lens size anomaly property_value: confidence "7.125" xsd:double @@ -145087,7 +145057,7 @@ xref: NCIT:C74995 {source="MONDO:equivalentTo"} xref: OMIM:157170 {source="MONDO:equivalentTo", source="DOID:0110872"} xref: Orphanet:2162 {source="MONDO:subClassOf", source="OMIM:157170"} xref: UMLS:C1834877 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C74995", source="OMIM:157170"} -is_a: MONDO:0016296 {source="DOID:0110872", source="MESH:C563579", source="MONDO:Redundant", source="NCIT:C74995", source="OMIM:157170", source="ORDO:2162/btnt"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DOID:0110872", source="MESH:C563579", source="MONDO:Redundant", source="NCIT:C74995", source="OMIM:157170", source="Orphanet:2162/btnt"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10889 ! SIX3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10889 {source="mim2gene_medgen"} ! SIX3 @@ -145140,7 +145110,7 @@ synonym: "MRMV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157600] xref: OMIM:157600 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="MONDO:subClassOf", source="OMIM:157600"} xref: UMLS:C1834870 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:157600"} -is_a: MONDO:0016558 {source="DC-OMIM:157600", source="MONDO:Redundant", source="OMIM:157600", source="ORDO:238722/btnt"} ! familial congenital mirror movements +is_a: MONDO:0016558 {source="DC-OMIM:157600", source="MONDO:Redundant", source="OMIM:157600", source="Orphanet:238722/btnt"} ! familial congenital mirror movements intersection_of: MONDO:0016558 ! familial congenital mirror movements intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2701 ! DCC relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2701 {source="mim2gene_medgen"} ! DCC @@ -145156,13 +145126,13 @@ synonym: "PEOA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157640] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:157640] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:H49.4 {source="MONDO:subClassOf", source="Orphanet:254892", source="ORDO:254892/attributed", source="ORDO:254892/ntbt"} +xref: ICD10CM:H49.4 {source="MONDO:subClassOf", source="Orphanet:254892/attributed", source="Orphanet:254892/ntbt", source="Orphanet:254892"} xref: MESH:C563575 {source="MONDO:equivalentTo"} -xref: OMIM:157640 {source="ORDO:254892/e", source="Orphanet:254892", source="MONDO:superClassOf"} -xref: OMIM:609283 {source="Orphanet:254892", source="MONDO:superClassOf", source="ORDO:254892/btnt"} -xref: OMIM:609286 {source="Orphanet:254892", source="MONDO:superClassOf", source="ORDO:254892/btnt"} -xref: OMIM:610131 {source="Orphanet:254892", source="MONDO:superClassOf", source="ORDO:254892/btnt"} -xref: OMIM:613077 {source="Orphanet:254892", source="MONDO:superClassOf", source="ORDO:254892/btnt"} +xref: OMIM:157640 {source="Orphanet:254892", source="MONDO:superClassOf", source="Orphanet:254892/e"} +xref: OMIM:609283 {source="Orphanet:254892/btnt", source="Orphanet:254892", source="MONDO:superClassOf"} +xref: OMIM:609286 {source="Orphanet:254892/btnt", source="Orphanet:254892", source="MONDO:superClassOf"} +xref: OMIM:610131 {source="Orphanet:254892/btnt", source="Orphanet:254892", source="MONDO:superClassOf"} +xref: OMIM:613077 {source="Orphanet:254892/btnt", source="Orphanet:254892", source="MONDO:superClassOf"} xref: Orphanet:254892 {source="MONDO:equivalentTo", source="OMIM:157640"} xref: UMLS:CN202062 {source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="DC-OMIM:157640", source="OMIM:157640"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions @@ -145181,15 +145151,15 @@ synonym: "mitral valve prolapse, familial" RELATED [MONDO:Lexical, OMIM:157700] synonym: "mitral valve prolapse, familial, autosomal dominant" RELATED [GARD:0003687] synonym: "MVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157700] xref: GARD:0003687 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I34.1 {source="Orphanet:741", source="ORDO:741/attributed", source="ORDO:741/ntbt"} -xref: OMIM:157700 {source="Orphanet:741", source="DOID:988", source="MONDO:superClassOf", source="ORDO:741/e"} -xref: OMIM:607829 {source="Orphanet:741", source="DOID:988", source="MONDO:superClassOf", source="ORDO:741/btnt"} -xref: OMIM:610840 {source="Orphanet:741", source="DOID:988", source="MONDO:superClassOf", source="ORDO:741/btnt"} +xref: ICD10CM:I34.1 {source="Orphanet:741", source="Orphanet:741/attributed", source="Orphanet:741/ntbt"} +xref: OMIM:157700 {source="Orphanet:741", source="DOID:988", source="MONDO:superClassOf", source="Orphanet:741/e"} +xref: OMIM:607829 {source="Orphanet:741", source="Orphanet:741/btnt", source="DOID:988", source="MONDO:superClassOf"} +xref: OMIM:610840 {source="Orphanet:741", source="Orphanet:741/btnt", source="DOID:988", source="MONDO:superClassOf"} xref: OMIMPS:157700 {source="MONDO:equivalentTo"} xref: Orphanet:741 {source="MONDO:equivalentTo", source="OMIM:157700"} xref: SCTID:233858000 {source="MONDO:equivalentTo"} xref: UMLS:C0026267 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:157700"} -xref: UMLS:C0340364 {source="Orphanet:741", source="MONDO:notFoundInDiseaseSubset", source="ORDO:741/e"} +xref: UMLS:C0340364 {source="Orphanet:741", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:741/e"} xref: UMLS:C1834819 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:157700"} xref: UMLS:C2931504 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:157700"} is_a: MONDO:0004910 {source="DC-OMIM:157700", source="MONDO:Redundant", source="OMIM:157700", source="linkedlifedata", source="linkedlifedata/inferred"} ! mitral valve prolapse @@ -145215,7 +145185,7 @@ synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vert synonym: "mitral regurgitation-deafness-skeletal anomalies syndrome" EXACT [Orphanet:3238] xref: GARD:0002362 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C563572 {source="MONDO:equivalentTo"} -xref: OMIM:157800 {source="ORDO:3238/e", source="MONDO:equivalentTo", source="Orphanet:3238"} +xref: OMIM:157800 {source="MONDO:equivalentTo", source="Orphanet:3238", source="Orphanet:3238/e"} xref: Orphanet:3238 {source="MONDO:equivalentTo", source="OMIM:157800"} xref: SCTID:720612000 {source="MONDO:equivalentTo"} xref: UMLS:C1834818 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3238", source="OMIM:157800"} @@ -145246,17 +145216,17 @@ synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501] xref: DOID:13501 {source="EFO:1001046", source="MONDO:equivalentTo"} xref: EFO:1001046 {source="MONDO:equivalentTo"} xref: GARD:0008549 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:570/ntbt", source="Orphanet:570", source="DOID:13501", source="ORDO:570/inclusion"} +xref: ICD10CM:Q87.0 {source="Orphanet:570/inclusion", source="Orphanet:570/ntbt", source="Orphanet:570", source="DOID:13501"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MedDRA:10027789 {source="EFO:1001046"} -xref: MedDRA:10030069 {source="ORDO:570/e", source="Orphanet:570"} -xref: MESH:D020331 {source="EFO:1001046", source="MONDO:equivalentTo", source="ORDO:570/e", source="Orphanet:570", source="DOID:13501"} +xref: MedDRA:10030069 {source="Orphanet:570/e", source="Orphanet:570"} +xref: MESH:D020331 {source="Orphanet:570/e", source="EFO:1001046", source="MONDO:equivalentTo", source="Orphanet:570", source="DOID:13501"} xref: NCIT:C84893 {source="EFO:1001046", source="MONDO:equivalentTo", source="DOID:13501"} -xref: OMIM:157900 {source="EFO:1001046", source="MONDO:equivalentTo", source="ORDO:570/e", source="Orphanet:570", source="DOID:13501"} +xref: OMIM:157900 {source="Orphanet:570/e", source="EFO:1001046", source="MONDO:equivalentTo", source="Orphanet:570", source="DOID:13501"} xref: Orphanet:570 {source="MONDO:equivalentTo", source="OMIM:157900"} xref: SCTID:393607001 {source="DOID:13501"} xref: SCTID:89444000 {source="MONDO:equivalentTo", source="DOID:13501"} -xref: UMLS:C0221060 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:570/e", source="Orphanet:570", source="OMIM:157900", source="NCIT:C84893", source="DOID:13501"} +xref: UMLS:C0221060 {source="Orphanet:570/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:570", source="OMIM:157900", source="NCIT:C84893", source="DOID:13501"} xref: UMLS:C0853240 {source="MONDO:equivalentTo", source="Orphanet:570"} is_a: MONDO:0002098 {source="DOID:13501", source="MESH:D020331"} ! facial nerve disorder is_a: MONDO:0002254 {source="NCIT:C84893", source="indirect"} ! syndromic disease @@ -145289,14 +145259,14 @@ synonym: "secondary retention of permanent molars" RELATED [GARD:0000701] xref: DOID:12661 {source="MONDO:equivalentTo", source="EFO:1001215"} xref: EFO:1001215 {source="MONDO:equivalentTo"} xref: GARD:0000701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K03.5 {source="Orphanet:1077", source="ORDO:1077/e", source="ORDO:1077/specific", source="DOID:12661"} +xref: ICD10CM:K03.5 {source="Orphanet:1077", source="Orphanet:1077/e", source="DOID:12661", source="Orphanet:1077/specific"} xref: ICD9:521.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:12661"} -xref: MedDRA:10044019 {source="Orphanet:1077", source="ORDO:1077/e", source="EFO:1001215"} -xref: MESH:D020254 {source="Orphanet:1077", source="ORDO:1077/e", source="MONDO:equivalentTo", source="EFO:1001215", source="DOID:12661"} +xref: MedDRA:10044019 {source="Orphanet:1077", source="Orphanet:1077/e", source="EFO:1001215"} +xref: MESH:D020254 {source="Orphanet:1077", source="MONDO:equivalentTo", source="Orphanet:1077/e", source="EFO:1001215", source="DOID:12661"} xref: OMIM:157950 {source="MONDO:equivalentTo", source="DOID:12661"} xref: Orphanet:1077 {source="MONDO:equivalentTo"} xref: SCTID:14901003 {source="MONDO:equivalentTo", source="EFO:1001215", source="DOID:12661"} -xref: UMLS:C0155930 {source="Orphanet:1077", source="ORDO:1077/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:157950", source="DOID:12661"} +xref: UMLS:C0155930 {source="Orphanet:1077", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1077/e", source="OMIM:157950", source="DOID:12661"} xref: UMLS:C2931182 {source="Orphanet:1077", source="MONDO:notFoundInDiseaseSubset", source="OMIM:157950"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder is_a: MONDO:0002220 {source="DOID:12661"} ! tooth hard tissue disease @@ -145319,12 +145289,12 @@ synonym: "macrosomia, obesity, macrocephaly, ocular abnormalities" RELATED [GARD synonym: "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" EXACT [Orphanet:2563] synonym: "momo syndrome" EXACT [OMIM:157980] xref: GARD:0000178 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="Orphanet:2563", source="ORDO:2563/attributed", source="ORDO:2563/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:2563/attributed", source="Orphanet:2563/ntbt", source="Orphanet:2563"} xref: MESH:C535812 {source="MONDO:equivalentTo"} -xref: OMIM:157980 {source="ORDO:2563/e", source="Orphanet:2563", source="MONDO:equivalentTo"} +xref: OMIM:157980 {source="Orphanet:2563", source="MONDO:equivalentTo", source="Orphanet:2563/e"} xref: Orphanet:2563 {source="OMIM:157980", source="MONDO:equivalentTo"} xref: SCTID:724137002 {source="MONDO:equivalentTo"} -xref: UMLS:C1834759 {source="ORDO:2563/e", source="Orphanet:2563", source="OMIM:157980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1834759 {source="Orphanet:2563", source="OMIM:157980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2563/e"} is_a: MONDO:0016565 {source="Orphanet:2563"} ! syndromic genetic obesity property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/178/momo-syndrome xsd:anyURI {source="GARD:0000178"} @@ -145341,16 +145311,16 @@ synonym: "moniliform hair syndrome" EXACT [Orphanet:573] synonym: "nodose hair" RELATED [GARD:0000093] xref: DOID:0050472 {source="MONDO:equivalentTo"} xref: GARD:0000093 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.1 {source="ORDO:573/inclusion", source="ORDO:573/ntbt", source="Orphanet:573", source="DOID:0050472"} -xref: MESH:D056734 {source="MONDO:equivalentTo", source="ORDO:573/e", source="Orphanet:573", source="DOID:0050472"} +xref: ICD10CM:Q84.1 {source="Orphanet:573/ntbt", source="Orphanet:573/inclusion", source="Orphanet:573", source="DOID:0050472"} +xref: MESH:D056734 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"} xref: NCIT:C84894 {source="MONDO:equivalentTo", source="DOID:0050472"} -xref: OMIM:158000 {source="MONDO:equivalentTo", source="ORDO:573/e", source="Orphanet:573", source="DOID:0050472"} +xref: OMIM:158000 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"} xref: OMIM:252200 {source="MONDO:equivalentObsolete", source="GARD:0000093"} xref: Orphanet:573 {source="OMIM:158000", source="MONDO:equivalentTo"} xref: SCTID:205596006 {source="DOID:0050472"} xref: SCTID:276482004 {source="DOID:0050472"} xref: SCTID:69488000 {source="MONDO:equivalentTo", source="DOID:0050472"} -xref: UMLS:C0546966 {source="OMIM:158000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:573/e", source="NCIT:C84894", source="Orphanet:573", source="DOID:0050472"} +xref: UMLS:C0546966 {source="OMIM:158000", source="Orphanet:573/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84894", source="Orphanet:573", source="DOID:0050472"} is_a: MONDO:0000426 {source="DOID:0050472", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0019281 {source="Orphanet:573"} ! isolated genetic hair shaft abnormality relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:158000", source="Orphanet:573"} ! Autosomal dominant inheritance @@ -145409,15 +145379,15 @@ synonym: "partial monosomy of chromosome 9p" EXACT [Orphanet:261929] synonym: "partial monosomy of the short arm of chromosome 9" EXACT [Orphanet:261929] xref: DOID:0060732 {source="MONDO:equivalentTo"} xref: GARD:0003773 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:261112/attributed", source="ORDO:261112/ntbt", source="Orphanet:261929", source="DOID:0060732", source="ORDO:261929/attributed", source="ORDO:261929/ntbt", source="Orphanet:261112"} +xref: ICD10CM:Q93.5 {source="Orphanet:261929/attributed", source="Orphanet:261929/ntbt", source="Orphanet:261929", source="DOID:0060732", source="Orphanet:261112", source="Orphanet:261112/attributed", source="Orphanet:261112/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538024 {source="MONDO:equivalentTo"} -xref: OMIM:158170 {source="DOID:0060732", source="MONDO:equivalentTo", source="Orphanet:261112", source="ORDO:261112/e"} +xref: OMIM:158170 {source="DOID:0060732", source="MONDO:equivalentTo", source="Orphanet:261112", source="Orphanet:261112/e"} xref: Orphanet:261112 {source="DOID:0060732", source="MONDO:equivalentTo", source="OMIM:158170"} xref: SCTID:62599000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265425 {source="Orphanet:261929", source="Orphanet:261112", source="MONDO:notFoundInDiseaseSubset", source="ORDO:261112/e"} -xref: UMLS:C0795830 {source="NCBI:mim2gene_medline", source="Orphanet:261112", source="MONDO:notFoundInDiseaseSubset", source="ORDO:261112/e", source="OMIM:158170"} -xref: UMLS:C2931695 {source="Orphanet:261929", source="ORDO:261929/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265425 {source="Orphanet:261929", source="Orphanet:261112", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:261112/e"} +xref: UMLS:C0795830 {source="NCBI:mim2gene_medline", source="Orphanet:261112", source="MONDO:notFoundInDiseaseSubset", source="OMIM:158170", source="Orphanet:261112/e"} +xref: UMLS:C2931695 {source="Orphanet:261929", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:261929/e"} is_a: MONDO:0000761 {source="DC-OMIM:158170", source="DOID:0060732"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0016874 {source="Orphanet:261929"} ! partial deletion of chromosome 9 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -145472,10 +145442,10 @@ synonym: "Hecht-Beals syndrome" EXACT [Orphanet:3377] synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [OMIM:158300] synonym: "trismus-pseudocamptodactyly syndrome" EXACT [OMIM:158300] xref: GARD:0002621 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q68.8 {source="Orphanet:3377", source="ORDO:3377/attributed", source="ORDO:3377/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:3377/attributed", source="Orphanet:3377/ntbt", source="Orphanet:3377"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535857 {source="MONDO:equivalentTo"} -xref: OMIM:158300 {source="ORDO:3377/e", source="Orphanet:3377", source="MONDO:equivalentTo"} +xref: OMIM:158300 {source="Orphanet:3377", source="MONDO:equivalentTo", source="Orphanet:3377/e"} xref: Orphanet:3377 {source="MONDO:equivalentTo", source="OMIM:158300"} xref: SCTID:8757006 {source="MONDO:equivalentTo"} xref: UMLS:C0265226 {source="Orphanet:3377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158300"} @@ -145495,7 +145465,7 @@ synonym: "Urban-Schosser-Spohn syndrome" EXACT [Orphanet:1839] xref: GARD:0005427 {source="MONDO:equivalentTo"} xref: ICD9:478.79 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536476 {source="MONDO:equivalentTo"} -xref: OMIM:158310 {source="MONDO:equivalentTo", source="Orphanet:1839", source="ORDO:1839/e"} +xref: OMIM:158310 {source="Orphanet:1839/e", source="MONDO:equivalentTo", source="Orphanet:1839"} xref: Orphanet:1839 {source="OMIM:158310", source="MONDO:equivalentTo"} xref: SCTID:403442005 {source="MONDO:equivalentTo"} xref: UMLS:C1274795 {source="OMIM:158310", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1839"} @@ -145516,14 +145486,14 @@ synonym: "Muir-Torre syndrome" EXACT [MONDO:Lexical, OMIM:158320] synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587] xref: DOID:0050465 {source="MONDO:equivalentTo"} xref: GARD:0006821 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L72.8 {source="Orphanet:587", source="ORDO:587/attributed", source="ORDO:587/ntbt"} -xref: MedDRA:10063042 {source="Orphanet:587", source="ORDO:587/e"} -xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="ORDO:587/e"} +xref: ICD10CM:L72.8 {source="Orphanet:587", source="Orphanet:587/attributed", source="Orphanet:587/ntbt"} +xref: MedDRA:10063042 {source="Orphanet:587", source="Orphanet:587/e"} +xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"} xref: NCIT:C84905 {source="DOID:0050465", source="MONDO:equivalentTo"} -xref: OMIM:158320 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="ORDO:587/e"} +xref: OMIM:158320 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"} xref: Orphanet:587 {source="OMIM:158320", source="MONDO:equivalentTo"} xref: SCTID:403824007 {source="DOID:0050465", source="MONDO:equivalentTo"} -xref: UMLS:C1321489 {source="Orphanet:587", source="DOID:0050465", source="NCBI:mim2gene_medline", source="OMIM:158320", source="MONDO:equivalentTo", source="NCIT:C84905", source="ORDO:587/e"} +xref: UMLS:C1321489 {source="Orphanet:587", source="DOID:0050465", source="NCBI:mim2gene_medline", source="OMIM:158320", source="MONDO:equivalentTo", source="Orphanet:587/e", source="NCIT:C84905"} is_a: MONDO:0018630 {source="https://github.com/monarch-initiative/mondo/issues/1627"} ! hereditary nonpolyposis colon cancer relationship: excluded_subClassOf MONDO:0005835 {source="DOID:0050465", source="Orphanet:587"} ! Lynch syndrome relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:587", source="indirect"} ! inherited skin tumor @@ -145544,10 +145514,10 @@ synonym: "Müllerian aplasia and hyperandrogenism" RELATED [Orphanet:247768] synonym: "Müllerian duct failure and hyperandrogenism" EXACT [Orphanet:247768] synonym: "WNT4 deficiency" EXACT [Orphanet:247768] xref: DOID:0111526 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q51.8 {source="ORDO:247768/attributed", source="ORDO:247768/ntbt", source="Orphanet:247768"} +xref: ICD10CM:Q51.8 {source="Orphanet:247768", source="Orphanet:247768/attributed", source="Orphanet:247768/ntbt"} xref: MESH:C567186 {source="MONDO:equivalentTo"} xref: NCIT:C120376 {source="MONDO:equivalentTo"} -xref: OMIM:158330 {source="ORDO:247768/e", source="MONDO:equivalentTo", source="Orphanet:247768"} +xref: OMIM:158330 {source="MONDO:equivalentTo", source="Orphanet:247768", source="Orphanet:247768/e"} xref: Orphanet:247768 {source="OMIM:158330", source="MONDO:equivalentTo"} xref: Orphanet:3109 {source="MONDO:subClassOf", source="OMIM:158330", source="MONDO:directSiblingOf"} xref: UMLS:C2675014 {source="OMIM:158330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:247768", source="NCIT:C120376"} @@ -145621,12 +145591,12 @@ synonym: "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus" RE synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [OMIM:158500] xref: GARD:0002417 {source="MONDO:equivalentTo"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538193 {source="Orphanet:2579", source="ORDO:2579/e"} -xref: OMIM:158500 {source="MONDO:equivalentTo", source="Orphanet:2579", source="ORDO:2579/e", source="GARD:0002417"} +xref: MESH:C538193 {source="Orphanet:2579", source="Orphanet:2579/e"} +xref: OMIM:158500 {source="MONDO:equivalentTo", source="Orphanet:2579", source="GARD:0002417", source="Orphanet:2579/e"} xref: Orphanet:2579 {source="MONDO:equivalentTo", source="OMIM:158500"} xref: SCTID:237611007 {source="MONDO:equivalentTo"} -xref: UMLS:C0342281 {source="NCBI:mim2gene_medline", source="Orphanet:2579", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2579/e", source="GARD:0002417", source="OMIM:158500"} -xref: UMLS:C2931765 {source="Orphanet:2579", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2579/e"} +xref: UMLS:C0342281 {source="NCBI:mim2gene_medline", source="Orphanet:2579", source="MONDO:notFoundInDiseaseSubset", source="GARD:0002417", source="OMIM:158500", source="Orphanet:2579/e"} +xref: UMLS:C2931765 {source="Orphanet:2579", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2579/e"} is_a: MONDO:0004884 ! eye degenerative disorder is_a: MONDO:0020240 {source="Orphanet:2579"} ! syndromic retinitis pigmentosa is_a: MONDO:0100309 {source="Orphanet:2579"} ! hereditary ataxia @@ -145653,7 +145623,7 @@ xref: OMIM:158580 {source="MONDO:equivalentTo"} xref: Orphanet:139589 {source="MONDO:subClassOf", source="OMIM:158580"} xref: UMLS:C1834703 {source="OMIM:158580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000075 {source="DC-OMIM:158580", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor -is_a: MONDO:0015355 {source="ORDO:139589/btnt"} ! distal hereditary motor neuropathy type 7 +is_a: MONDO:0015355 {source="Orphanet:139589/btnt"} ! distal hereditary motor neuropathy type 7 is_a: MONDO:0024237 {source="MESH:C563562/inferred"} ! inherited neurodegenerative disorder intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14025 ! SLC5A7 @@ -145678,7 +145648,7 @@ xref: OMIM:158590 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="MONDO:subClassOf", source="OMIM:158590"} xref: UMLS:C1834692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158590"} is_a: MONDO:0000075 {source="DC-OMIM:158590", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor -is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2 +is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2 is_a: MONDO:0024237 {source="MESH:C563561/inferred"} ! inherited neurodegenerative disorder intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30171 ! HSPB8 @@ -145697,9 +145667,9 @@ synonym: "spinal muscular atrophy, childhood, proximal, autosomal dominant" RELA synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELATED [OMIM:158600] synonym: "spinal muscular atrophy, lower extremity-predominant 1, AD" EXACT [OMIM:158600, OMIM:genemap2] synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:158600] -xref: ICD10CM:G12.1 {source="ORDO:209341/attributed", source="ORDO:209341/ntbt", source="Orphanet:209341"} +xref: ICD10CM:G12.1 {source="Orphanet:209341", source="Orphanet:209341/attributed", source="Orphanet:209341/ntbt"} xref: MESH:C563560 {source="MONDO:equivalentTo"} -xref: OMIM:158600 {source="MONDO:equivalentTo", source="Orphanet:209341", source="ORDO:209341/e"} +xref: OMIM:158600 {source="MONDO:equivalentTo", source="Orphanet:209341", source="Orphanet:209341/e"} xref: Orphanet:209341 {source="MONDO:equivalentTo", source="OMIM:158600"} xref: Orphanet:363447 {source="MONDO:subClassOf", source="OMIM:158600"} xref: UMLS:C1834690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:209341", source="OMIM:158600"} @@ -145742,15 +145712,15 @@ synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1, OMIM:158810] synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158810] xref: DOID:0050663 {source="MONDO:equivalentTo"} xref: GARD:0000873 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:610", source="ORDO:610/attributed", source="ORDO:610/ntbt"} -xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="ORDO:610/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:610", source="Orphanet:610/attributed", source="Orphanet:610/ntbt"} +xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e"} xref: NCIT:C126688 {source="MONDO:equivalentTo"} -xref: OMIM:158810 {source="Orphanet:610", source="DOID:0050663", source="MONDO:superClassOf", source="ORDO:610/e"} -xref: OMIM:616471 {source="Orphanet:610", source="MONDO:superClassOf", source="ORDO:610/btnt"} +xref: OMIM:158810 {source="Orphanet:610", source="DOID:0050663", source="Orphanet:610/e", source="MONDO:superClassOf"} +xref: OMIM:616471 {source="Orphanet:610", source="Orphanet:610/btnt", source="MONDO:superClassOf"} xref: OMIMPS:158810 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:610 {source="MONDO:equivalentTo", source="OMIM:158810"} xref: SCTID:718572004 {source="MONDO:equivalentTo"} -xref: UMLS:C1834674 {source="Orphanet:610", source="MONDO:equivalentTo", source="NCIT:C126688", source="OMIM:158810", source="ORDO:610/e"} +xref: UMLS:C1834674 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e", source="NCIT:C126688", source="OMIM:158810"} is_a: MONDO:0005307 {source="MESH:C535436"} ! contracture is_a: MONDO:0005336 {source="DOID:0050663/inferred", source="MONDO:Redundant", source="NCIT:C126688", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0016106 {source="Orphanet:610"} ! progressive muscular dystrophy @@ -145790,7 +145760,7 @@ xref: OMIM:158900 {source="MONDO:equivalentTo", source="GARD:0009941"} xref: Orphanet:269 {source="MONDO:subClassOf", source="OMIM:158900", source="GARD:0009941"} xref: UMLS:C0238288 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:158900"} xref: UMLS:C1834673 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:158900"} -is_a: MONDO:0001347 {source="DC-OMIM:158900", source="MESH:C536391", source="MONDO:Redundant", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="DC-OMIM:158900", source="MESH:C536391", source="MONDO:Redundant", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3954 ! FRG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3954 {source="mim2gene_medgen"} ! FRG1 @@ -145817,7 +145787,7 @@ xref: NCIT:C172705 {source="MONDO:equivalentTo"} xref: OMIM:158901 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="MONDO:subClassOf", source="OMIM:158901"} xref: UMLS:C1834671 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:158901"} -is_a: MONDO:0001347 {source="DC-OMIM:158901", source="MESH:C563557", source="MONDO:Redundant", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="DC-OMIM:158901", source="MESH:C563557", source="MONDO:Redundant", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29090 ! SMCHD1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29090 {source="mim2gene_medgen"} ! SMCHD1 @@ -145847,7 +145817,7 @@ xref: MESH:C563554 {source="MONDO:equivalentTo"} xref: OMIM:159050 {source="MONDO:equivalentTo"} xref: Orphanet:98895 {source="MONDO:subClassOf", source="OMIM:159050"} xref: UMLS:C1834652 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159050"} -is_a: MONDO:0010311 {source="ORDO:98895/btnt"} ! Becker muscular dystrophy +is_a: MONDO:0010311 {source="Orphanet:98895/btnt"} ! Becker muscular dystrophy property_value: confidence "2.1176470588235294" xsd:double [Term] @@ -145871,7 +145841,7 @@ xref: MESH:C563552 {source="MONDO:equivalentTo"} xref: OMIM:159400 {source="MONDO:equivalentTo"} xref: Orphanet:589 {source="MONDO:subClassOf", source="OMIM:159400"} xref: UMLS:C1834635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159400"} -is_a: MONDO:0009688 {source="MESH:C563552", source="ORDO:589/btnt"} ! myasthenia gravis +is_a: MONDO:0009688 {source="MESH:C563552", source="Orphanet:589/btnt"} ! myasthenia gravis property_value: confidence "0.8888888888888891" xsd:double [Term] @@ -145891,9 +145861,9 @@ synonym: "ataxia-pancytopenia syndrome" EXACT [OMIM:159550] synonym: "ATXPC" RELATED ABBREVIATION [OMIM:159550] synonym: "myelocerebellar disorder" EXACT [OMIM:159550, Orphanet:2585] xref: GARD:0003865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:2585", source="ORDO:2585/attributed", source="ORDO:2585/ntbt"} +xref: ICD10CM:D61.0 {source="Orphanet:2585/attributed", source="Orphanet:2585/ntbt", source="MONDO:relatedTo", source="Orphanet:2585"} xref: MESH:C563233 {source="MONDO:equivalentTo"} -xref: OMIM:159550 {source="ORDO:2585/e", source="Orphanet:2585", source="MONDO:equivalentTo"} +xref: OMIM:159550 {source="Orphanet:2585", source="MONDO:equivalentTo", source="Orphanet:2585/e"} xref: Orphanet:2585 {source="OMIM:159550", source="MONDO:equivalentTo"} xref: SCTID:768556005 {source="MONDO:equivalentTo"} xref: UMLS:C1327919 {source="OMIM:159550", source="Orphanet:2585", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -145924,16 +145894,16 @@ synonym: "TSP" EXACT ABBREVIATION [Orphanet:289326] xref: DOID:321 {source="MONDO:equivalentTo", source="EFO:0007527"} xref: EFO:0007527 {source="MONDO:equivalentTo"} xref: GARD:0008208 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G04.1 {source="ORDO:289326/e", source="Orphanet:289326", source="DOID:321"} +xref: ICD10CM:G04.1 {source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e"} xref: ICD9:323.01 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10044696 {source="ORDO:289326/e", source="Orphanet:289326"} +xref: MedDRA:10044696 {source="Orphanet:289326", source="Orphanet:289326/e"} xref: MESH:D015493 {source="MONDO:equivalentTo", source="EFO:0007527", source="DOID:321"} -xref: OMIM:159580 {source="ORDO:289326/e", source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321"} +xref: OMIM:159580 {source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e"} xref: Orphanet:289326 {source="MONDO:equivalentTo", source="OMIM:159580"} xref: SCTID:192733005 {source="DOID:321"} xref: SCTID:45129002 {source="DOID:321"} xref: SCTID:714279000 {source="MONDO:equivalentTo", source="DOID:321"} -xref: UMLS:C0030481 {source="ORDO:289326/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321", source="OMIM:159580"} +xref: UMLS:C0030481 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e", source="OMIM:159580"} is_a: MONDO:0005108 {source="MONDO:Redundant", source="Orphanet:289326"} ! viral infectious disease is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:289326", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disorder of the nervous system relationship: disease_has_feature HP:0001324 ! Muscle weakness @@ -145968,7 +145938,7 @@ xref: HP:0005534 {source="MONDO:otherHierarchy"} xref: ICDO:9898/1 {source="NCIT:C82339"} xref: MESH:C563551 {source="MONDO:equivalentTo"} xref: NCIT:C82339 {source="MONDO:equivalentTo"} -xref: OMIM:159595 {source="ORDO:420611/e", source="MONDO:equivalentTo", source="Orphanet:420611", source="DOID:0060888"} +xref: OMIM:159595 {source="MONDO:equivalentTo", source="Orphanet:420611", source="DOID:0060888", source="Orphanet:420611/e"} xref: ONCOTREE:TAM {source="MONDO:equivalentTo"} xref: Orphanet:420611 {source="OMIM:159595", source="MONDO:equivalentTo", source="DOID:0060888"} xref: SCTID:721307000 {source="MONDO:equivalentTo"} @@ -146020,9 +145990,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2589"} synonym: "myoclonus cerebellar ataxia deafness" RELATED [GARD:0003873] synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [OMIM:159800] xref: GARD:0003873 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="ORDO:2589/attributed", source="ORDO:2589/ntbt", source="Orphanet:2589"} +xref: ICD10CM:G11.1 {source="Orphanet:2589", source="Orphanet:2589/attributed", source="Orphanet:2589/ntbt"} xref: MESH:C563549 {source="MONDO:equivalentTo"} -xref: OMIM:159800 {source="ORDO:2589/e", source="MONDO:equivalentTo", source="Orphanet:2589"} +xref: OMIM:159800 {source="MONDO:equivalentTo", source="Orphanet:2589", source="Orphanet:2589/e"} xref: Orphanet:2589 {source="MONDO:equivalentTo", source="OMIM:159800"} xref: UMLS:C1834579 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2589", source="OMIM:159800"} is_a: MONDO:0019589 {source="Orphanet:2589"} ! syndromic genetic hearing loss @@ -146075,13 +146045,13 @@ synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [ xref: DOID:0111527 {source="MONDO:equivalentTo"} xref: GARD:0003044 {source="MONDO:equivalentTo"} xref: GARD:0003875 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G25.3 {source="ORDO:2590/attributed", source="ORDO:2590/ntbt", source="Orphanet:2590"} +xref: ICD10CM:G25.3 {source="Orphanet:2590/attributed", source="Orphanet:2590/ntbt", source="Orphanet:2590"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537563 {source="MONDO:equivalentTo"} -xref: OMIM:159950 {source="MONDO:equivalentTo", source="ORDO:2590/e", source="Orphanet:2590", source="GARD:0003044"} +xref: OMIM:159950 {source="Orphanet:2590/e", source="MONDO:equivalentTo", source="Orphanet:2590", source="GARD:0003044"} xref: Orphanet:2590 {source="MONDO:equivalentTo", source="OMIM:159950"} xref: SCTID:703524005 {source="MONDO:equivalentTo"} -xref: UMLS:C1834569 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159950", source="ORDO:2590/e", source="Orphanet:2590", source="GARD:0003044"} +xref: UMLS:C1834569 {source="Orphanet:2590/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159950", source="Orphanet:2590", source="GARD:0003044"} is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020128 {source="Orphanet:2590", source="Orphanet:2590/inferred"} ! motor neuron disorder is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy @@ -146094,9 +146064,9 @@ name: autosomal dominant myoglobinuria def: "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." [Orphanet:99846] subset: ordo_disease {source="Orphanet:99846"} synonym: "myoglobinuria, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:160010] -xref: ICD10CM:R82.1 {source="MONDO:subClassOf", source="Orphanet:99846", source="ORDO:99846/attributed", source="ORDO:99846/ntbt"} +xref: ICD10CM:R82.1 {source="MONDO:subClassOf", source="Orphanet:99846", source="Orphanet:99846/attributed", source="Orphanet:99846/ntbt"} xref: MESH:C563546 {source="MONDO:equivalentTo"} -xref: OMIM:160010 {source="ORDO:99846/e", source="MONDO:equivalentTo", source="Orphanet:99846"} +xref: OMIM:160010 {source="MONDO:equivalentTo", source="Orphanet:99846", source="Orphanet:99846/e"} xref: Orphanet:99846 {source="MONDO:equivalentTo", source="OMIM:160010"} xref: SCTID:725903003 {source="MONDO:equivalentTo"} xref: UMLS:C1834567 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99846", source="OMIM:160010"} @@ -146130,13 +146100,13 @@ synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120] synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120] synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [OMIM:160120] xref: DOID:0050989 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:37612/attributed", source="ORDO:37612/ntbt", source="Orphanet:37612"} -xref: OMIM:160120 {source="MONDO:equivalentTo", source="DOID:0050989", source="ORDO:37612/e", source="Orphanet:37612"} +xref: ICD10CM:G11.8 {source="Orphanet:37612/attributed", source="Orphanet:37612/ntbt", source="Orphanet:37612"} +xref: OMIM:160120 {source="Orphanet:37612/e", source="MONDO:equivalentTo", source="DOID:0050989", source="Orphanet:37612"} xref: Orphanet:37612 {source="MONDO:equivalentTo", source="OMIM:160120"} xref: Orphanet:972 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:160120"} xref: SCTID:421182009 {source="MONDO:equivalentTo"} xref: UMLS:C0242287 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:160120"} -xref: UMLS:C1719788 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160120", source="ORDO:37612/e", source="Orphanet:37612"} +xref: UMLS:C1719788 {source="Orphanet:37612/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160120", source="Orphanet:37612"} xref: UMLS:C1834559 {source="MONDO:relatedTo", source="OMIM:160120"} xref: UMLS:C2674766 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:160120"} xref: UMLS:CN042654 {source="MONDO:equivalentTo"} @@ -146168,10 +146138,10 @@ synonym: "myopathy, centronuclear, type 1" EXACT [MONDORULE:1, OMIM:160150] synonym: "myotubular myopathy, autosomal dominant" RELATED [OMIM:160150] xref: DOID:0111217 {source="MONDO:equivalentTo"} xref: GARD:0012719 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:169189", source="ORDO:169189/attributed", source="ORDO:169189/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:169189", source="Orphanet:169189/attributed", source="Orphanet:169189/ntbt"} xref: NCIT:C126689 {source="MONDO:equivalentTo"} -xref: OMIM:160150 {source="Orphanet:169189", source="MONDO:equivalentTo", source="ORDO:169189/e"} -xref: OMIM:614408 {source="Orphanet:169189", source="MONDO:superClassOf", source="ORDO:169189/btnt"} +xref: OMIM:160150 {source="Orphanet:169189", source="MONDO:equivalentTo", source="Orphanet:169189/e"} +xref: OMIM:614408 {source="Orphanet:169189", source="Orphanet:169189/btnt", source="MONDO:superClassOf"} xref: Orphanet:169189 {source="MONDO:equivalentTo", source="OMIM:160150"} xref: SCTID:716696006 {source="MONDO:equivalentTo"} xref: UMLS:C1834558 {source="Orphanet:169189", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:160150"} @@ -146214,8 +146184,8 @@ synonym: "myopathy, late distal hereditary" RELATED [OMIM:160500] synonym: "myosin storage myopathy" EXACT [PMID:22918376, PMID:24664454] xref: DOID:0070197 {source="MONDO:equivalentTo"} xref: GARD:0010769 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:59135/attributed", source="ORDO:59135/ntbt", source="Orphanet:59135"} -xref: OMIM:160500 {source="MONDO:equivalentTo", source="ORDO:59135/e", source="Orphanet:59135"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:59135", source="Orphanet:59135/attributed", source="Orphanet:59135/ntbt"} +xref: OMIM:160500 {source="Orphanet:59135/e", source="MONDO:equivalentTo", source="Orphanet:59135"} xref: Orphanet:59135 {source="OMIM:160500", source="MONDO:equivalentTo"} xref: SCTID:764859001 {source="MONDO:equivalentTo"} xref: UMLS:C0221054 {source="OMIM:160500", source="MONDO:notFoundInDiseaseSubset"} @@ -146238,9 +146208,9 @@ synonym: "TAM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160565] synonym: "tubular aggregate myopathy" EXACT CLINGEN_PREFERRED [] xref: DOID:0080089 {source="MONDO:equivalentTo"} xref: GARD:0003884 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:2593/attributed", source="ORDO:2593/ntbt", source="Orphanet:2593"} -xref: OMIM:160565 {source="DOID:0080089", source="MONDO:superClassOf", source="Orphanet:2593", source="ORDO:2593/e"} -xref: OMIM:615883 {source="DOID:0080089", source="MONDO:superClassOf", source="ORDO:2593/btnt", source="Orphanet:2593"} +xref: ICD10CM:G71.2 {source="Orphanet:2593/attributed", source="Orphanet:2593/ntbt", source="Orphanet:2593"} +xref: OMIM:160565 {source="Orphanet:2593/e", source="DOID:0080089", source="MONDO:superClassOf", source="Orphanet:2593"} +xref: OMIM:615883 {source="DOID:0080089", source="MONDO:superClassOf", source="Orphanet:2593/btnt", source="Orphanet:2593"} xref: OMIMPS:160565 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="OMIM:160565", source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:2593"} ! congenital myopathy @@ -146289,18 +146259,18 @@ synonym: "myositis" RELATED [OMIM:160750] xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"} xref: EFO:0000557 {source="MONDO:equivalentTo"} xref: GARD:0006805 {source="MONDO:equivalentTo"} -xref: ICD10CM:M33.0 {source="ORDO:93672/e", source="Orphanet:93672"} -xref: MedDRA:10008521 {source="ORDO:93672/e", source="Orphanet:93672"} +xref: ICD10CM:M33.0 {source="Orphanet:93672", source="Orphanet:93672/e"} +xref: MedDRA:10008521 {source="Orphanet:93672", source="Orphanet:93672/e"} xref: MESH:C000598745 {source="MONDO:equivalentObsolete"} -xref: MESH:C538250 {source="ORDO:93672/e", source="Orphanet:93672", source="MONDO:directSiblingOf"} +xref: MESH:C538250 {source="Orphanet:93672", source="Orphanet:93672/e", source="MONDO:directSiblingOf"} xref: MESH:D003882 {source="MONDO:subClassOf", source="DOID:14203"} xref: NCIT:C27576 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"} xref: OMIM:160750 {source="DOID:633", source="MONDO:relatedTo", source="EFO:0000783", source="GARD:0006805"} xref: Orphanet:93672 {source="MONDO:equivalentTo", source="GARD:0006805"} xref: SCTID:1212005 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"} xref: UMLS:C0027121 {source="DOID:633", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:160750"} -xref: UMLS:C0263666 {source="ORDO:93672/e", source="Orphanet:93672", source="MONDO:notFoundInDiseaseSubset", source="DOID:14203"} -xref: UMLS:C2931785 {source="ORDO:93672/e", source="Orphanet:93672", source="MONDO:equivalentObsolete", source="NCIT:C27576", source="OMIM:160750"} +xref: UMLS:C0263666 {source="Orphanet:93672", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93672/e", source="DOID:14203"} +xref: UMLS:C2931785 {source="Orphanet:93672", source="MONDO:equivalentObsolete", source="NCIT:C27576", source="Orphanet:93672/e", source="OMIM:160750"} is_a: MONDO:0016367 {source="DOID:14203", source="EFO:0000557", source="MESH:C000598745", source="MONDO:cjm", source="NCIT:C27576", source="linkedlifedata"} ! dermatomyositis is_a: MONDO:0018010 {source="Orphanet:93672"} ! juvenile idiopathic inflammatory myopathy intersection_of: MONDO:0000001 ! disease or disorder @@ -146352,20 +146322,20 @@ synonym: "Steinert syndrome" EXACT [NCIT:C84679] synonym: "Steinert's disease" RELATED [GARD:0008310] xref: DOID:11722 {source="MONDO:equivalentTo"} xref: GARD:0008310 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.1 {source="ORDO:273/ntbt", source="Orphanet:273", source="ORDO:273/inclusion"} +xref: ICD10CM:G71.1 {source="Orphanet:273/inclusion", source="Orphanet:273/ntbt", source="Orphanet:273"} xref: ICD10CM:G71.11 {source="DOID:11722"} xref: ICD9:359.21 {source="DOID:11722"} -xref: MESH:C538008 {source="ORDO:273/e", source="Orphanet:273"} +xref: MESH:C538008 {source="Orphanet:273/e", source="Orphanet:273"} xref: MESH:D009223 {source="MONDO:subClassOf", source="DOID:11722"} xref: NCIT:C84679 {source="MONDO:equivalentTo"} xref: NCIT:C84914 {source="MONDO:subClassOf", source="DOID:11722"} -xref: OMIM:160900 {source="DOID:11722", source="MONDO:equivalentTo", source="ORDO:273/e", source="Orphanet:273"} +xref: OMIM:160900 {source="Orphanet:273/e", source="DOID:11722", source="MONDO:equivalentTo", source="Orphanet:273"} xref: Orphanet:273 {source="OMIM:160900", source="MONDO:equivalentTo"} xref: SCTID:155096007 {source="DOID:11722"} xref: SCTID:267713009 {source="DOID:11722"} xref: SCTID:77956009 {source="DOID:11722"} xref: UMLS:C0027126 {source="MONDO:subClassOf", source="DOID:11722", source="OMIM:160900", source="NCBI:mim2gene_medline"} -xref: UMLS:C2931688 {source="OMIM:160900", source="ORDO:273/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:273"} +xref: UMLS:C2931688 {source="Orphanet:273/e", source="OMIM:160900", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:273"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder @@ -146411,7 +146381,7 @@ subset: ordo_disease {source="Orphanet:171886"} synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990] xref: DOID:0080103 {source="MONDO:equivalentTo"} xref: GARD:0011906 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:171886", source="ORDO:171886/attributed", source="ORDO:171886/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:171886/attributed", source="Orphanet:171886/ntbt", source="Orphanet:171886"} xref: MESH:C563535 {source="MONDO:equivalentTo"} xref: OMIM:160990 {source="DOID:0080103", source="MONDO:equivalentTo"} xref: Orphanet:171886 {source="MONDO:equivalentTo"} @@ -146435,9 +146405,9 @@ synonym: "NFJS" RELATED ABBREVIATION [GARD:0003912, OMIM:161000] synonym: "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" RELATED [GARD:0003912] xref: DOID:0111528 {source="MONDO:equivalentTo"} xref: GARD:0003912 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="ORDO:69087/attributed", source="ORDO:69087/ntbt", source="Orphanet:69087"} +xref: ICD10CM:Q82.4 {source="Orphanet:69087", source="Orphanet:69087/attributed", source="Orphanet:69087/ntbt"} xref: MESH:C538331 {source="MONDO:equivalentTo"} -xref: OMIM:161000 {source="ORDO:69087/e", source="MONDO:equivalentTo", source="Orphanet:69087"} +xref: OMIM:161000 {source="MONDO:equivalentTo", source="Orphanet:69087", source="Orphanet:69087/e"} xref: Orphanet:69087 {source="MONDO:equivalentTo", source="OMIM:161000"} xref: SCTID:239084001 {source="MONDO:equivalentTo"} xref: UMLS:C0343111 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69087", source="OMIM:161000"} @@ -146478,11 +146448,11 @@ synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050, Orphanet:7915 xref: DOID:0080079 {source="MONDO:equivalentTo"} xref: DOID:0080088 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0010363 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L60.3 {source="ORDO:79153/attributed", source="ORDO:79153/ntbt", source="Orphanet:79153"} -xref: ICD10CM:Q84.6 {source="Orphanet:280654", source="ORDO:280654/attributed", source="ORDO:280654/ntbt"} +xref: ICD10CM:L60.3 {source="Orphanet:79153", source="Orphanet:79153/attributed", source="Orphanet:79153/ntbt"} +xref: ICD10CM:Q84.6 {source="Orphanet:280654/attributed", source="Orphanet:280654/ntbt", source="Orphanet:280654"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562907 {source="MONDO:equivalentTo"} -xref: OMIM:161050 {source="DOID:0080079", source="MONDO:equivalentTo", source="ORDO:79153/e", source="Orphanet:79153"} +xref: OMIM:161050 {source="DOID:0080079", source="MONDO:equivalentTo", source="Orphanet:79153", source="Orphanet:79153/e"} xref: Orphanet:280654 {source="OMIM:614157", source="MONDO:superClassOf"} xref: Orphanet:79153 {source="MONDO:equivalentTo", source="OMIM:161050"} xref: SCTID:238719003 {source="MONDO:equivalentTo"} @@ -146519,15 +146489,15 @@ synonym: "Turner-Kieser syndrome" EXACT [OMIM:161200, Orphanet:2614] synonym: "Turner-Kiser syndrome" EXACT [DOID:9467] xref: DOID:9467 {source="MONDO:equivalentTo"} xref: GARD:0007160 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:2614/ntbt", source="Orphanet:2614", source="DOID:9467", source="ORDO:2614/inclusion"} +xref: ICD10CM:Q87.2 {source="Orphanet:2614/inclusion", source="Orphanet:2614", source="Orphanet:2614/ntbt", source="DOID:9467"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063431 {source="Orphanet:2614", source="ORDO:2614/e"} -xref: MESH:D009261 {source="MONDO:equivalentTo", source="Orphanet:2614", source="ORDO:2614/e", source="DOID:9467"} +xref: MedDRA:10063431 {source="Orphanet:2614", source="Orphanet:2614/e"} +xref: MESH:D009261 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"} xref: NCIT:C75120 {source="MONDO:equivalentTo", source="DOID:9467"} -xref: OMIM:161200 {source="MONDO:equivalentTo", source="Orphanet:2614", source="ORDO:2614/e", source="DOID:9467"} +xref: OMIM:161200 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"} xref: Orphanet:2614 {source="MONDO:equivalentTo", source="OMIM:161200"} xref: SCTID:22199006 {source="MONDO:equivalentTo", source="DOID:9467"} -xref: UMLS:C0027341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75120", source="Orphanet:2614", source="ORDO:2614/e", source="OMIM:161200", source="DOID:9467"} +xref: UMLS:C0027341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75120", source="Orphanet:2614", source="OMIM:161200", source="DOID:9467", source="Orphanet:2614/e"} is_a: MONDO:0000426 {source="DOID:9467", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75120", source="indirect"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder @@ -146557,7 +146527,7 @@ xref: Orphanet:2073 {source="MONDO:subClassOf", source="OMIM:161400"} xref: SCTID:46263000 {source="MONDO:equivalentTo"} xref: UMLS:C0007384 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:161400"} xref: UMLS:C1834372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:161400"} -is_a: MONDO:0016158 {source="ORDO:2073/btnt"} ! narcolepsy-cataplexy syndrome +is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome is_a: MONDO:0021107 {source="MONDO:Redundant", source="OMIM:161400", source="indirect"} ! narcolepsy intersection_of: MONDO:0021107 ! narcolepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4847 ! HCRT @@ -146665,10 +146635,10 @@ xref: UMLS:C2750536 {source="OMIM:161800", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C2750537 {source="OMIM:161800", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN187050 {source="MONDO:equivalentTo"} is_a: MONDO:0005336 {source="DOID:0110927/inferred", source="MONDO:Redundant", source="NCIT:C129870", source="indirect"} ! myopathy -is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy -is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy -is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy -is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy +is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy +is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy +is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy +is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110927", source="MESH:C580202", source="MONDO:Redundant", source="OMIM:161800", source="indirect"} ! nemaline myopathy is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy intersection_of: MONDO:0018958 ! nemaline myopathy @@ -146686,10 +146656,10 @@ synonym: "nephropathy-hypertension" EXACT [OMIM:161900, OMIM:genemap2] synonym: "renal failure, adult-onset" RELATED [OMIM:161900] synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, OMIM:161900] synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161900] -xref: ICD10CM:I15.1 {source="Orphanet:88659", source="ORDO:88659/attributed", source="ORDO:88659/ntbt"} +xref: ICD10CM:I15.1 {source="Orphanet:88659", source="Orphanet:88659/attributed", source="Orphanet:88659/ntbt"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562889 {source="MONDO:equivalentTo"} -xref: OMIM:161900 {source="ORDO:88659/e", source="MONDO:equivalentTo", source="Orphanet:88659"} +xref: OMIM:161900 {source="MONDO:equivalentTo", source="Orphanet:88659", source="Orphanet:88659/e"} xref: Orphanet:88659 {source="OMIM:161900", source="MONDO:equivalentTo"} xref: SCTID:703310005 {source="MONDO:equivalentTo"} xref: UMLS:C0403443 {source="NCBI:mim2gene_medline", source="OMIM:161900", source="MONDO:equivalentTo"} @@ -146750,7 +146720,7 @@ xref: EFO:0008618 {source="MONDO:equivalentTo"} xref: GARD:0006806 {source="MONDO:equivalentTo"} xref: MESH:C563693 {source="MONDO:equivalentTo"} xref: NCIT:C123172 {source="MONDO:equivalentTo"} -xref: OMIM:162000 {source="MONDO:equivalentTo", source="GARD:0006806", source="Orphanet:209886", source="ORDO:209886/e"} +xref: OMIM:162000 {source="Orphanet:209886/e", source="MONDO:equivalentTo", source="GARD:0006806", source="Orphanet:209886"} xref: OMIM:603860 {source="MONDO:equivalentObsolete"} xref: OMIM:609886 {source="MONDO:equivalentObsolete"} xref: Orphanet:209886 {source="MONDO:equivalentObsolete", source="GARD:0006806", source="OMIM:162000"} @@ -146768,7 +146738,7 @@ is_a: MONDO:0019741 {source="Orphanet:209886"} ! familial cystic renal disease intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12559 ! UMOD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12559 {source="mim2gene_medgen"} ! UMOD -relationship: excluded_subClassOf MONDO:0008264 {source="ORDO:34149/btnt"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia +relationship: excluded_subClassOf MONDO:0008264 {source="Orphanet:34149/btnt"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/1880 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.3823529411764706" xsd:double @@ -146803,20 +146773,20 @@ synonym: "Schwannomatosis" EXACT [Orphanet:93921] synonym: "schwannomatosis" EXACT [MONDO:0002557] xref: DOID:3204 {source="MONDO:equivalentTo"} xref: GARD:0004768 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q85.0 {source="ORDO:93921/attributed", source="ORDO:93921/ntbt", source="Orphanet:93921"} +xref: ICD10CM:Q85.0 {source="Orphanet:93921/attributed", source="Orphanet:93921/ntbt", source="Orphanet:93921"} xref: ICD10CM:Q85.03 {source="DOID:3204"} xref: ICD9:237.73 {source="DOID:3204"} xref: ICDO:9560/1 {source="NCIT:C6557"} -xref: MESH:C536641 {source="ORDO:93921/e", source="DOID:3204", source="Orphanet:93921"} +xref: MESH:C536641 {source="Orphanet:93921/e", source="DOID:3204", source="Orphanet:93921"} xref: NCIT:C6557 {source="MONDO:equivalentTo", source="DOID:3204"} -xref: OMIM:162091 {source="ORDO:93921/e", source="DOID:3204", source="MONDO:superClassOf", source="Orphanet:93921"} -xref: OMIM:162260 {source="ORDO:93921/btnt", source="MONDO:superClassOf", source="Orphanet:93921"} -xref: OMIM:615670 {source="ORDO:93921/btnt", source="DOID:3204", source="MONDO:superClassOf", source="Orphanet:93921"} +xref: OMIM:162091 {source="Orphanet:93921/e", source="DOID:3204", source="MONDO:superClassOf", source="Orphanet:93921"} +xref: OMIM:162260 {source="MONDO:superClassOf", source="Orphanet:93921/btnt", source="Orphanet:93921"} +xref: OMIM:615670 {source="DOID:3204", source="MONDO:superClassOf", source="Orphanet:93921/btnt", source="Orphanet:93921"} xref: OMIMPS:162091 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:162091", source="MONDO:equivalentTo"} xref: SCTID:142071000119101 {source="DOID:3204"} -xref: UMLS:C0917817 {source="ORDO:93921/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93921"} -xref: UMLS:C1335929 {source="OMIM:162091", source="MONDO:equivalentTo", source="ORDO:93921/e", source="DOID:3204", source="NCIT:C6557", source="Orphanet:93921"} +xref: UMLS:C0917817 {source="Orphanet:93921/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93921"} +xref: UMLS:C1335929 {source="Orphanet:93921/e", source="OMIM:162091", source="MONDO:equivalentTo", source="DOID:3204", source="NCIT:C6557", source="Orphanet:93921"} xref: UMLS:C2931480 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93921"} is_a: MONDO:0002546 {source="DOID:3204", source="NCIT:C6557"} ! schwannoma is_a: MONDO:0019289 {source="Orphanet:93921"} ! hyperpigmentation of the skin @@ -146853,7 +146823,7 @@ xref: UMLS:C1510479 {source="MONDO:notFoundInDiseaseSubset", source="DOID:10383" xref: UMLS:C1834304 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:162100"} is_a: MONDO:0006683 {source="DOID:10383", source="linkedlifedata"} ! brachial plexus neuropathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7323 {source="mim2gene_medgen"} ! SEPTIN9 -relationship: excluded_subClassOf MONDO:0017362 {source="ORDO:2901/btnt"} ! neuralgic amyotrophy +relationship: excluded_subClassOf MONDO:0017362 {source="Orphanet:2901/btnt"} ! neuralgic amyotrophy property_value: confidence "3.333333333333333" xsd:double [Term] @@ -146905,7 +146875,7 @@ xref: SCTID:254240003 {source="MONDO:equivalentTo"} xref: UMLS:C1834230 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1834231 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:162260"} xref: UMLS:C2931480 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:162260"} -is_a: MONDO:0008075 {source="ORDO:93921/btnt"} ! neurofibromatosis type 3 +is_a: MONDO:0008075 {source="Orphanet:93921/btnt"} ! neurofibromatosis type 3 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:162260"} ! Autosomal dominant inheritance property_value: confidence "0.47078947368421087" xsd:double @@ -146956,18 +146926,18 @@ synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300] synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709] xref: DOID:10016 {source="MONDO:equivalentTo"} xref: GARD:0010225 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:247709", source="ORDO:247709/attributed", source="ORDO:247709/ntbt"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:247709/attributed", source="Orphanet:247709/ntbt", source="Orphanet:247709"} xref: ICD10CM:E31.23 {source="DOID:10016"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:258.03 {source="DOID:10016", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10056420 {source="Orphanet:247709", source="ORDO:247709/e"} -xref: MESH:D018814 {source="DOID:10016", source="MONDO:equivalentTo", source="Orphanet:247709", source="ORDO:247709/e"} +xref: MedDRA:10056420 {source="Orphanet:247709/e", source="Orphanet:247709"} +xref: MESH:D018814 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="Orphanet:247709"} xref: NCIT:C3227 {source="DOID:10016", source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:162300 {source="DOID:10016", source="MONDO:equivalentTo", source="Orphanet:247709", source="ORDO:247709/e"} +xref: OMIM:162300 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="Orphanet:247709"} xref: Orphanet:247709 {source="DOID:10016", source="MONDO:equivalentTo", source="OMIM:162300"} xref: Orphanet:653 {source="MONDO:subClassOf", source="OMIM:162300"} xref: SCTID:61530001 {source="DOID:10016", source="MONDO:equivalentTo"} -xref: UMLS:C0025269 {source="DOID:10016", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:162300", source="Orphanet:247709", source="NCIT:C3227", source="ORDO:247709/e"} +xref: UMLS:C0025269 {source="DOID:10016", source="Orphanet:247709/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:162300", source="Orphanet:247709", source="NCIT:C3227"} is_a: MONDO:0000426 {source="DOID:10016", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0006295 {source="MONDO:Redundant", source="indirect"} ! malignant urinary system neoplasm is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3227/inferred", source="OMIM:162300", source="Orphanet:247709/inferred", source="linkedlifedata"} ! multiple endocrine neoplasia @@ -147004,9 +146974,9 @@ synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [DOID:0110720, MONDORULE synonym: "neuronal ceroid lipofuscinosis, parry type" EXACT [NCIT:C128116] xref: DOID:0110720 {source="MONDO:equivalentTo"} xref: GARD:0001222 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110720", source="ORDO:228343/attributed", source="ORDO:228343/ntbt", source="Orphanet:228343"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110720", source="Orphanet:228343/attributed", source="Orphanet:228343/ntbt", source="Orphanet:228343"} xref: NCIT:C128116 {source="MONDO:equivalentTo"} -xref: OMIM:162350 {source="DOID:0110720", source="MONDO:equivalentTo", source="ORDO:228343/e", source="Orphanet:228343"} +xref: OMIM:162350 {source="DOID:0110720", source="Orphanet:228343/e", source="MONDO:equivalentTo", source="Orphanet:228343"} xref: Orphanet:228343 {source="DOID:0110720", source="MONDO:equivalentTo", source="OMIM:162350"} xref: Orphanet:79262 {source="MONDO:subClassOf", source="OMIM:162350"} xref: UMLS:C1834207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128116", source="OMIM:162350"} @@ -147058,7 +147028,7 @@ xref: GARD:0004798 {source="MONDO:equivalentTo"} xref: OMIM:162400 {source="DOID:0070152", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:subClassOf", source="OMIM:162400"} xref: UMLS:C0020071 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:162400"} -is_a: MONDO:0018213 {source="DOID:0070152", source="MONDO:Redundant", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070152", source="MONDO:Redundant", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11277 ! SPTLC1 relationship: disease_has_basis_in_disruption_of GO:0004758 {source="PMID:21502308"} ! serine C-palmitoyltransferase activity @@ -147085,13 +147055,13 @@ synonym: "tomaculous neuropathy" EXACT [DOID:0060843] synonym: "tulip-bulb digger's palsy" EXACT [DOID:0060843, Orphanet:640] xref: DOID:0060843 {source="MONDO:equivalentTo"} xref: GARD:0005221 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:640/attributed", source="ORDO:640/ntbt", source="DOID:0060843", source="Orphanet:640"} -xref: MedDRA:10069382 {source="ORDO:640/e", source="Orphanet:640"} +xref: ICD10CM:G60.0 {source="Orphanet:640/attributed", source="Orphanet:640/ntbt", source="DOID:0060843", source="Orphanet:640"} +xref: MedDRA:10069382 {source="Orphanet:640/e", source="Orphanet:640"} xref: MESH:C536965 {source="MONDO:equivalentTo"} -xref: OMIM:162500 {source="MONDO:equivalentTo", source="DOID:0060843", source="ORDO:640/e", source="Orphanet:640"} +xref: OMIM:162500 {source="Orphanet:640/e", source="MONDO:equivalentTo", source="DOID:0060843", source="Orphanet:640"} xref: Orphanet:640 {source="MONDO:equivalentTo", source="DOID:0060843", source="OMIM:162500"} xref: SCTID:230558006 {source="MONDO:equivalentTo"} -xref: UMLS:C0393814 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060843", source="ORDO:640/e", source="OMIM:162500", source="Orphanet:640"} +xref: UMLS:C0393814 {source="NCBI:mim2gene_medline", source="Orphanet:640/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060843", source="OMIM:162500", source="Orphanet:640"} is_a: MONDO:0015359 {source="Orphanet:640"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy is_a: MONDO:0022754 {source="Orphanet:640"} ! chromosome 17p deletion relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9118 {source="mim2gene_medgen"} ! PMP22 @@ -147144,18 +147114,18 @@ synonym: "neutropenia, periodic" EXACT [DOID:5339] synonym: "periodic neutropenia" EXACT [NCIT:C3820] xref: DOID:5339 {source="MONDO:equivalentTo"} xref: GARD:0006229 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:2686", source="ORDO:2686/ntbt", source="ORDO:2686/inclusion"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:2686/inclusion", source="Orphanet:2686/ntbt", source="Orphanet:2686"} xref: ICD10CM:D70.4 {source="DOID:5339"} xref: ICD9:288.02 {source="DOID:5339", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10053176 {source="ORDO:2686/e", source="Orphanet:2686"} -xref: MESH:C536227 {source="ORDO:2686/e", source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo"} +xref: MedDRA:10053176 {source="Orphanet:2686", source="Orphanet:2686/e"} +xref: MESH:C536227 {source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="Orphanet:2686/e"} xref: NCIT:C3820 {source="DOID:5339", source="MONDO:equivalentTo"} -xref: OMIM:162800 {source="ORDO:2686/e", source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo"} +xref: OMIM:162800 {source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="Orphanet:2686/e"} xref: Orphanet:2686 {source="OMIM:162800", source="MONDO:equivalentTo"} xref: SCTID:191347008 {source="DOID:5339", source="MONDO:equivalentTo"} xref: SCTID:234575007 {source="DOID:5339"} xref: SCTID:69295006 {source="DOID:5339"} -xref: UMLS:C0221023 {source="ORDO:2686/e", source="OMIM:162800", source="NCBI:mim2gene_medline", source="Orphanet:2686", source="DOID:5339", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0221023 {source="OMIM:162800", source="NCBI:mim2gene_medline", source="Orphanet:2686", source="DOID:5339", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2686/e"} is_a: MONDO:0001475 {source="DOID:5339", source="MESH:C536227", source="linkedlifedata"} ! neutropenia is_a: MONDO:0015134 {source="Orphanet:2686"} ! constitutional neutropenia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3309 {source="mim2gene_medgen"} ! ELANE @@ -147185,12 +147155,12 @@ def: "A leukocyte disease characterized by autosomal dominant inheritance of lif subset: ordo_disease {source="Orphanet:279943"} synonym: "neutrophilia, hereditary" RELATED [OMIM:162830] xref: DOID:0090120 {source="MONDO:equivalentTo"} -xref: ICD10CM:D72.8 {source="DOID:0090120", source="ORDO:279943/attributed", source="ORDO:279943/ntbt", source="Orphanet:279943"} +xref: ICD10CM:D72.8 {source="DOID:0090120", source="Orphanet:279943", source="Orphanet:279943/attributed", source="Orphanet:279943/ntbt"} xref: MESH:C563010 {source="MONDO:equivalentTo"} -xref: OMIM:162830 {source="DOID:0090120", source="ORDO:279943/e", source="MONDO:equivalentTo", source="Orphanet:279943"} +xref: OMIM:162830 {source="DOID:0090120", source="MONDO:equivalentTo", source="Orphanet:279943", source="Orphanet:279943/e"} xref: Orphanet:279943 {source="DOID:0090120", source="MONDO:equivalentTo", source="OMIM:162830"} xref: SCTID:129639005 {source="MONDO:equivalentTo"} -xref: UMLS:C0543669 {source="DOID:0090120", source="ORDO:279943/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:279943", source="OMIM:162830"} +xref: UMLS:C0543669 {source="DOID:0090120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:279943", source="Orphanet:279943/e", source="OMIM:162830"} is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010", source="linkedlifedata/inferred"} ! leukocyte disorder is_a: MONDO:0005046 {source="MONDO:Entailed", source="Orphanet:279943"} ! immune system disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2439 {source="mim2gene_medgen"} ! CSF3R @@ -147249,14 +147219,14 @@ synonym: "port-wine stain of skin" EXACT [NCIT:C3840] synonym: "Salmon patch Nevus" EXACT [NCIT:C3840] xref: DOID:0111529 {source="MONDO:equivalentTo"} xref: GARD:0003986 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q82.5 {source="Orphanet:624", source="ORDO:624/inclusion", source="ORDO:624/ntbt"} -xref: MedDRA:10067193 {source="ORDO:624/e", source="Orphanet:624"} -xref: MESH:D019339 {source="ORDO:624/e", source="Orphanet:624"} +xref: ICD10CM:Q82.5 {source="Orphanet:624/inclusion", source="Orphanet:624/ntbt", source="Orphanet:624"} +xref: MedDRA:10067193 {source="Orphanet:624", source="Orphanet:624/e"} +xref: MESH:D019339 {source="Orphanet:624", source="Orphanet:624/e"} xref: NCIT:C3840 {source="MONDO:equivalentTo"} -xref: OMIM:163000 {source="ORDO:624/e", source="Orphanet:624", source="MONDO:equivalentTo"} +xref: OMIM:163000 {source="Orphanet:624", source="MONDO:equivalentTo", source="Orphanet:624/e"} xref: Orphanet:624 {source="MONDO:equivalentTo", source="OMIM:163000"} xref: SCTID:416377005 {source="MONDO:equivalentTo"} -xref: UMLS:C0235752 {source="ORDO:624/e", source="Orphanet:624", source="MONDO:equivalentTo", source="NCIT:C3840", source="OMIM:163000"} +xref: UMLS:C0235752 {source="Orphanet:624", source="MONDO:equivalentTo", source="NCIT:C3840", source="OMIM:163000", source="Orphanet:624/e"} xref: UMLS:C0340803 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:163000"} xref: UMLS:C2931029 {source="Orphanet:624", source="MONDO:notFoundInDiseaseSubset", source="OMIM:163000"} xref: UMLS:CN205384 {source="MONDO:equivalentTo"} @@ -147330,9 +147300,9 @@ synonym: "Sfm syndrome" RELATED [OMIM:163200] synonym: "Solomon syndrome" EXACT [Orphanet:2612] xref: DOID:0111530 {source="MONDO:equivalentTo"} xref: GARD:0010291 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.8 {source="ORDO:2612/attributed", source="ORDO:2612/ntbt", source="Orphanet:2612"} +xref: ICD10CM:Q85.8 {source="Orphanet:2612", source="Orphanet:2612/attributed", source="Orphanet:2612/ntbt"} xref: NCIT:C4678 {source="MONDO:equivalentTo"} -xref: OMIM:163200 {source="MONDO:equivalentTo", source="Orphanet:2612", source="ORDO:2612/e", source="GARD:0010291"} +xref: OMIM:163200 {source="MONDO:equivalentTo", source="Orphanet:2612", source="Orphanet:2612/e", source="GARD:0010291"} xref: Orphanet:2612 {source="MONDO:equivalentTo", source="OMIM:163200", source="GARD:0010291"} xref: UMLS:C0265318 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:163200"} xref: UMLS:C0265329 {source="Orphanet:2612", source="MONDO:notFoundInDiseaseSubset"} @@ -147358,12 +147328,12 @@ synonym: "mesomelic dysplasia, Nievergelt type" RELATED [OMIM:163400] synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633] synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554] xref: GARD:0003554 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:2633/attributed", source="ORDO:2633/ntbt", source="Orphanet:2633"} +xref: ICD10CM:Q78.8 {source="Orphanet:2633", source="Orphanet:2633/attributed", source="Orphanet:2633/ntbt"} xref: MESH:C536120 {source="MONDO:equivalentTo"} -xref: OMIM:163400 {source="ORDO:2633/e", source="MONDO:equivalentTo", source="Orphanet:2633"} +xref: OMIM:163400 {source="MONDO:equivalentTo", source="Orphanet:2633", source="Orphanet:2633/e"} xref: Orphanet:2633 {source="MONDO:equivalentTo", source="OMIM:163400"} xref: SCTID:33979003 {source="MONDO:equivalentTo"} -xref: UMLS:C0432231 {source="ORDO:2633/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2633", source="OMIM:163400"} +xref: UMLS:C0432231 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2633", source="OMIM:163400", source="Orphanet:2633/e"} is_a: MONDO:0019697 {source="Orphanet:2633"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "7.125" xsd:double @@ -147410,8 +147380,8 @@ synonym: "isolated polythelia" EXACT [Orphanet:2456] synonym: "nipples, supernumerary" RELATED [OMIM:163700] synonym: "polymastia" RELATED [OMIM:163700] synonym: "polythelia, familial" RELATED [OMIM:163700] -xref: ICD10CM:Q83.3 {source="Orphanet:2456", source="ORDO:2456/ntbt"} -xref: OMIM:163700 {source="Orphanet:2456", source="ORDO:2456/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q83.3 {source="Orphanet:2456/ntbt", source="Orphanet:2456"} +xref: OMIM:163700 {source="Orphanet:2456", source="MONDO:equivalentTo", source="Orphanet:2456/e"} xref: Orphanet:2456 {source="OMIM:163700", source="MONDO:equivalentTo"} xref: UMLS:C0266010 {source="OMIM:163700", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0266011 {source="OMIM:163700", source="Orphanet:2456", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -147437,7 +147407,7 @@ xref: MESH:C563513 {source="MONDO:equivalentTo"} xref: OMIM:163800 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="MONDO:subClassOf", source="OMIM:163800"} xref: UMLS:C1834144 {source="OMIM:163800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0012061 {source="MESH:C563513", source="MONDO:Redundant", source="OMIM:163800", source="ORDO:166282/btnt", source="indirect"} ! familial sick sinus syndrome +is_a: MONDO:0012061 {source="MESH:C563513", source="MONDO:Redundant", source="OMIM:163800", source="Orphanet:166282/btnt", source="indirect"} ! familial sick sinus syndrome intersection_of: MONDO:0012061 ! familial sick sinus syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16882 ! HCN4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16882 {source="mim2gene_medgen"} ! HCN4 @@ -147538,13 +147508,13 @@ synonym: "oculo-cerebro-cutaneous syndrome" RELATED [GARD:0000106] synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180] synonym: "orbital cyst with cerebral and focal dermal malformations" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647] xref: GARD:0000106 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1647/attributed", source="ORDO:1647/ntbt", source="Orphanet:1647"} +xref: ICD10CM:Q87.8 {source="Orphanet:1647/attributed", source="Orphanet:1647/ntbt", source="Orphanet:1647"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538088 {source="MONDO:equivalentTo", source="ORDO:1647/e", source="Orphanet:1647"} -xref: OMIM:164180 {source="MONDO:equivalentTo", source="ORDO:1647/e", source="GARD:0000106", source="Orphanet:1647"} +xref: MESH:C538088 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="Orphanet:1647"} +xref: OMIM:164180 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="GARD:0000106", source="Orphanet:1647"} xref: Orphanet:1647 {source="OMIM:164180", source="MONDO:equivalentTo", source="GARD:0000106"} xref: SCTID:403554008 {source="MONDO:equivalentTo"} -xref: UMLS:C0796092 {source="OMIM:164180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1647/e", source="GARD:0000106", source="Orphanet:1647"} +xref: UMLS:C0796092 {source="OMIM:164180", source="Orphanet:1647/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000106", source="Orphanet:1647"} xref: UMLS:C2931390 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1647"} is_a: MONDO:0003847 {source="GARD:0000106", source="OMIM:164180", source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian disease is_a: MONDO:0005071 {source="GARD:0000106"} ! nervous system disorder @@ -147599,16 +147569,16 @@ synonym: "ODDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164200] synonym: "ODDD syndrome" EXACT [Orphanet:2710] xref: DOID:0060291 {source="MONDO:equivalentTo"} xref: GARD:0007239 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2710/attributed", source="ORDO:2710/ntbt", source="Orphanet:2710"} +xref: ICD10CM:Q87.8 {source="Orphanet:2710", source="Orphanet:2710/attributed", source="Orphanet:2710/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063691 {source="ORDO:2710/e", source="Orphanet:2710"} +xref: MedDRA:10063691 {source="Orphanet:2710", source="Orphanet:2710/e"} xref: MESH:C563160 {source="MONDO:equivalentTo", source="DOID:0060291"} -xref: OMIM:164200 {source="ORDO:2710/e", source="MONDO:equivalentTo", source="Orphanet:2710", source="DOID:0060291"} -xref: OMIM:257850 {source="MONDO:superClassOf", source="ORDO:2710/btnt", source="Orphanet:2710", source="DOID:0060291"} +xref: OMIM:164200 {source="MONDO:equivalentTo", source="Orphanet:2710", source="DOID:0060291", source="Orphanet:2710/e"} +xref: OMIM:257850 {source="MONDO:superClassOf", source="Orphanet:2710", source="DOID:0060291", source="Orphanet:2710/btnt"} xref: Orphanet:2710 {source="MONDO:equivalentTo", source="DOID:0060291", source="OMIM:164200"} xref: SCTID:31291009 {source="DOID:0060291"} xref: SCTID:38215007 {source="MONDO:equivalentTo", source="DOID:0060291"} -xref: UMLS:C0812437 {source="ORDO:2710/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2710", source="DOID:0060291", source="OMIM:164200"} +xref: UMLS:C0812437 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2710", source="DOID:0060291", source="OMIM:164200", source="Orphanet:2710/e"} is_a: MONDO:0002254 {source="DOID:0060291", source="MONDO:Redundant", source="indirect"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0015160 {source="Orphanet:2710", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -147643,9 +147613,9 @@ synonym: "hypotelorism-cleft palate-hypospadias syndrome" EXACT [Orphanet:2353] synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930, OMIM:164220] synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220] xref: GARD:0002930 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2353", source="ORDO:2353/attributed", source="ORDO:2353/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2353", source="Orphanet:2353/attributed", source="Orphanet:2353/ntbt"} xref: MESH:C563509 {source="MONDO:equivalentTo"} -xref: OMIM:164220 {source="Orphanet:2353", source="ORDO:2353/e", source="MONDO:equivalentTo"} +xref: OMIM:164220 {source="Orphanet:2353", source="MONDO:equivalentTo", source="Orphanet:2353/e"} xref: Orphanet:2353 {source="GARD:0002930", source="MONDO:equivalentTo", source="OMIM:164220"} xref: SCTID:721902002 {source="MONDO:equivalentTo"} xref: UMLS:C1834038 {source="Orphanet:2353", source="GARD:0002930", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:164220"} @@ -147713,9 +147683,9 @@ synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:3916 synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280] synonym: "Oded syndrome" RELATED [OMIM:164280] synonym: "ODED syndrome type 1" EXACT [Orphanet:391641] -xref: ICD10CM:Q87.8 {source="ORDO:391641/attributed", source="ORDO:391641/ntbt", source="Orphanet:391641"} +xref: ICD10CM:Q87.8 {source="Orphanet:391641/attributed", source="Orphanet:391641/ntbt", source="Orphanet:391641"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:164280 {source="MONDO:equivalentTo", source="ORDO:391641/e", source="Orphanet:391641"} +xref: OMIM:164280 {source="Orphanet:391641/e", source="MONDO:equivalentTo", source="Orphanet:391641"} xref: Orphanet:1305 {source="MONDO:subClassOf", source="OMIM:164280"} xref: Orphanet:391641 {source="OMIM:164280", source="MONDO:equivalentTo"} xref: SCTID:702431004 {source="MONDO:equivalentTo"} @@ -147739,15 +147709,15 @@ synonym: "oculopharyngeal muscular dystrophy" EXACT [MONDO:Lexical, OMIM:164300] synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164300, Orphanet:270] xref: DOID:11719 {source="MONDO:equivalentTo"} xref: GARD:0007245 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:270/ntbt", source="Orphanet:270", source="ORDO:270/inclusion", source="DOID:11719"} -xref: MedDRA:10052181 {source="ORDO:270/e", source="Orphanet:270"} -xref: MESH:D039141 {source="ORDO:270/e", source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:270/inclusion", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/ntbt"} +xref: MedDRA:10052181 {source="Orphanet:270", source="Orphanet:270/e"} +xref: MESH:D039141 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"} xref: NCIT:C84942 {source="MONDO:equivalentTo", source="DOID:11719"} -xref: OMIM:164300 {source="ORDO:270/e", source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719"} +xref: OMIM:164300 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"} xref: Orphanet:270 {source="MONDO:equivalentTo", source="OMIM:164300"} xref: SCTID:77097004 {source="MONDO:equivalentTo", source="DOID:11719"} xref: UMLS:C0244252 {source="NCIT:C84942", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0270952 {source="NCBI:mim2gene_medline", source="ORDO:270/e", source="MONDO:equivalentTo", source="Orphanet:270", source="OMIM:164300", source="DOID:11719"} +xref: UMLS:C0270952 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:270", source="OMIM:164300", source="DOID:11719", source="Orphanet:270/e"} is_a: MONDO:0004746 {source="DOID:11719", source="linkedlifedata"} ! myopathy of extraocular muscle is_a: MONDO:0016106 {source="Orphanet:270"} ! progressive muscular dystrophy is_a: MONDO:0020121 {source="DOID:11719", source="MESH:D039141", source="MONDO:Redundant", source="NCIT:C84942", source="Orphanet:270/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy @@ -147774,10 +147744,10 @@ synonym: "odontoma-dysphagia syndrome" RELATED [OMIM:164330] synonym: "Odontomatosis (multiple odontomas) with dysphagia" RELATED [GARD:0000238] xref: GARD:0000238 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537740 {source="MONDO:equivalentTo"} -xref: OMIM:164330 {source="MONDO:equivalentTo", source="Orphanet:2724", source="ORDO:2724/e"} +xref: OMIM:164330 {source="MONDO:equivalentTo", source="Orphanet:2724", source="Orphanet:2724/e"} xref: Orphanet:2724 {source="MONDO:equivalentTo", source="OMIM:164330"} xref: SCTID:716180009 {source="MONDO:equivalentTo"} -xref: UMLS:C1834013 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2724", source="OMIM:164330", source="ORDO:2724/e"} +xref: UMLS:C1834013 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2724", source="OMIM:164330", source="Orphanet:2724/e"} is_a: MONDO:0021147 {source="Orphanet:2724", source="Orphanet:2724/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: confidence "8.6" xsd:double @@ -147804,12 +147774,12 @@ synonym: "spinocerebellar ataxia type 1" EXACT [MONDORULE:1, OMIM:164400] synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400] xref: DOID:0050954 {source="MONDO:equivalentTo"} xref: GARD:0004071 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:98755", source="ORDO:98755/attributed", source="ORDO:98755/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:98755/attributed", source="Orphanet:98755/ntbt", source="Orphanet:98755"} xref: NCIT:C129982 {source="MONDO:equivalentTo"} -xref: OMIM:164400 {source="ORDO:98755/e", source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954"} +xref: OMIM:164400 {source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954", source="Orphanet:98755/e"} xref: Orphanet:98755 {source="MONDO:equivalentTo", source="OMIM:164400"} xref: SCTID:715748006 {source="MONDO:equivalentTo"} -xref: UMLS:C0752120 {source="ORDO:98755/e", source="NCIT:C129982", source="NCBI:mim2gene_medline", source="Orphanet:98755", source="MONDO:equivalentTo", source="OMIM:164400"} +xref: UMLS:C0752120 {source="NCIT:C129982", source="NCBI:mim2gene_medline", source="Orphanet:98755", source="MONDO:equivalentTo", source="Orphanet:98755/e", source="OMIM:164400"} is_a: MONDO:0005559 {source="DOID:0050954/inferred", source="MONDO:Redundant", source="NCIT:C129982", source="NCIT:C129982/inferred", source="Orphanet:98755/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease is_a: MONDO:0015548 {source="Orphanet:98755"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98755"} ! autosomal dominant cerebellar ataxia type I @@ -147841,12 +147811,12 @@ synonym: "spinocerebellar ataxia 7" RELATED [MONDO:Lexical, OMIM:164500] synonym: "spinocerebellar ataxia type 7" EXACT [MONDORULE:1, OMIM:164500] xref: DOID:0050958 {source="MONDO:equivalentTo"} xref: GARD:0004955 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:94147", source="ORDO:94147/attributed", source="ORDO:94147/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:94147/attributed", source="Orphanet:94147/ntbt", source="Orphanet:94147"} xref: NCIT:C126562 {source="MONDO:equivalentTo"} -xref: OMIM:164500 {source="ORDO:94147/e", source="Orphanet:94147", source="MONDO:equivalentTo", source="DOID:0050958"} +xref: OMIM:164500 {source="Orphanet:94147", source="MONDO:equivalentTo", source="Orphanet:94147/e", source="DOID:0050958"} xref: Orphanet:94147 {source="MONDO:equivalentTo", source="OMIM:164500"} xref: SCTID:715726000 {source="MONDO:equivalentTo"} -xref: UMLS:C0752125 {source="ORDO:94147/e", source="Orphanet:94147", source="NCBI:mim2gene_medline", source="NCIT:C126562", source="MONDO:equivalentTo", source="OMIM:164500"} +xref: UMLS:C0752125 {source="Orphanet:94147", source="NCBI:mim2gene_medline", source="NCIT:C126562", source="MONDO:equivalentTo", source="Orphanet:94147/e", source="OMIM:164500"} is_a: MONDO:0016163 {source="MONDO:Redundant", source="Orphanet:94147"} ! autosomal dominant cerebellar ataxia type II intersection_of: MONDO:0016163 ! autosomal dominant cerebellar ataxia type II intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10560 ! ATXN7 @@ -147879,9 +147849,9 @@ synonym: "OMOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164745] synonym: "omodysplasia 2" RELATED [MONDO:Lexical, OMIM:164745] synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:164745] xref: GARD:0003643 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:93328/attributed", source="ORDO:93328/ntbt", source="Orphanet:93328"} +xref: ICD10CM:Q78.8 {source="Orphanet:93328", source="Orphanet:93328/attributed", source="Orphanet:93328/ntbt"} xref: MESH:C567664 {source="MONDO:equivalentTo"} -xref: OMIM:164745 {source="MONDO:equivalentTo", source="ORDO:93328/e", source="Orphanet:93328"} +xref: OMIM:164745 {source="Orphanet:93328/e", source="MONDO:equivalentTo", source="Orphanet:93328"} xref: Orphanet:2733 {source="MONDO:subClassOf", source="OMIM:164745"} xref: Orphanet:93328 {source="OMIM:164745", source="MONDO:equivalentTo"} xref: SCTID:725165009 {source="MONDO:equivalentTo"} @@ -147947,9 +147917,9 @@ synonym: "Ophthalmo-mandibulo-melic dysplasia" RELATED [GARD:0004365] synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900] synonym: "Pillay syndrome" EXACT [Orphanet:2741] xref: GARD:0004365 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2741", source="ORDO:2741/attributed", source="ORDO:2741/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2741/attributed", source="Orphanet:2741/ntbt", source="Orphanet:2741"} xref: MESH:C563501 {source="MONDO:equivalentTo"} -xref: OMIM:164900 {source="ORDO:2741/e", source="Orphanet:2741", source="MONDO:equivalentTo"} +xref: OMIM:164900 {source="Orphanet:2741", source="MONDO:equivalentTo", source="Orphanet:2741/e"} xref: Orphanet:2741 {source="OMIM:164900", source="MONDO:equivalentTo"} xref: SCTID:715484003 {source="MONDO:equivalentTo"} xref: UMLS:C1833872 {source="OMIM:164900", source="NCBI:mim2gene_medline", source="Orphanet:2741", source="MONDO:equivalentTo"} @@ -147987,7 +147957,7 @@ synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficienc synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236] xref: GARD:0003236 {source="MONDO:equivalentTo"} xref: MESH:C563498 {source="MONDO:equivalentTo"} -xref: OMIM:165150 {source="GARD:0003236", source="ORDO:2743/e", source="MONDO:equivalentTo", source="Orphanet:2743"} +xref: OMIM:165150 {source="GARD:0003236", source="MONDO:equivalentTo", source="Orphanet:2743", source="Orphanet:2743/e"} xref: Orphanet:2743 {source="GARD:0003236", source="OMIM:165150", source="MONDO:equivalentTo"} xref: UMLS:C1833835 {source="OMIM:165150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2743"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2743", source="indirect"} ! syndromic intellectual disability @@ -148003,7 +147973,7 @@ xref: MESH:C563497 {source="MONDO:equivalentTo"} xref: OMIM:165199 {source="MONDO:equivalentTo"} xref: Orphanet:1215 {source="MONDO:subClassOf", source="OMIM:165199"} xref: UMLS:C1833831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165199"} -is_a: MONDO:0014720 {source="ORDO:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome +is_a: MONDO:0014720 {source="Orphanet:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:165199"} ! Autosomal dominant inheritance property_value: confidence "0.13906249999999987" xsd:double @@ -148016,7 +147986,7 @@ xref: MESH:C563496 {source="MONDO:equivalentTo"} xref: OMIM:165200 {source="MONDO:equivalentTo"} xref: Orphanet:99718 {source="MONDO:subClassOf", source="OMIM:165200"} xref: UMLS:C1833830 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165200"} -is_a: MONDO:0020478 {source="ORDO:99718/btnt"} ! Leber plus disease +is_a: MONDO:0020478 {source="Orphanet:99718/btnt"} ! Leber plus disease property_value: confidence "29.33333333333344" xsd:double [Term] @@ -148034,12 +148004,12 @@ synonym: "optic atrophy and cataract, autosomal dominant" RELATED [OMIM:165300] synonym: "optic atrophy, cataract, and neurologic disorder" RELATED [GARD:0010203] xref: DOID:0111433 {source="MONDO:equivalentTo"} xref: GARD:0010203 {source="MONDO:equivalentTo"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="ORDO:67036/attributed", source="ORDO:67036/ntbt", source="Orphanet:67036"} -xref: MESH:C537128 {source="MONDO:equivalentTo", source="ORDO:67036/e", source="Orphanet:67036"} -xref: OMIM:165300 {source="MONDO:equivalentTo", source="ORDO:67036/e", source="Orphanet:67036"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:67036/attributed", source="Orphanet:67036/ntbt", source="Orphanet:67036"} +xref: MESH:C537128 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"} +xref: OMIM:165300 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"} xref: Orphanet:67036 {source="MONDO:equivalentTo", source="OMIM:165300"} xref: SCTID:719517009 {source="MONDO:equivalentTo"} -xref: UMLS:C1833809 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:67036/e", source="OMIM:165300", source="Orphanet:67036"} +xref: UMLS:C1833809 {source="NCBI:mim2gene_medline", source="Orphanet:67036/e", source="MONDO:equivalentTo", source="OMIM:165300", source="Orphanet:67036"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:67036", source="linkedlifedata"} ! autosomal dominant optic atrophy is_a: MONDO:0043878 {source="MESH:C537128/inferred", source="MONDO:Redundant", source="OMIM:165300", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! hereditary optic atrophy @@ -148066,10 +148036,10 @@ synonym: "optic atrophy, juvenile" RELATED [OMIM:165500] synonym: "optic atrophy, Kjer type" RELATED [OMIM:165500] xref: DOID:0111441 {source="MONDO:equivalentTo"} xref: GARD:0009890 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="ORDO:98673/attributed", source="ORDO:98673/ntbt", source="Orphanet:98673"} -xref: OMIM:165500 {source="MONDO:equivalentTo", source="ORDO:98673/e", source="Orphanet:98673"} -xref: OMIM:605293 {source="MONDO:superClassOf", source="ORDO:98673/btnt", source="Orphanet:98673"} -xref: OMIM:610708 {source="MONDO:superClassOf", source="ORDO:98673/btnt", source="Orphanet:98673"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:98673/attributed", source="Orphanet:98673/ntbt", source="Orphanet:98673"} +xref: OMIM:165500 {source="Orphanet:98673/e", source="MONDO:equivalentTo", source="Orphanet:98673"} +xref: OMIM:605293 {source="MONDO:superClassOf", source="Orphanet:98673/btnt", source="Orphanet:98673"} +xref: OMIM:610708 {source="MONDO:superClassOf", source="Orphanet:98673/btnt", source="Orphanet:98673"} xref: Orphanet:98673 {source="MONDO:equivalentTo", source="OMIM:165500"} xref: SCTID:717336005 {source="MONDO:equivalentTo"} xref: UMLS:C0338508 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:165500"} @@ -148104,8 +148074,8 @@ synonym: "optic nerve hypoplasia, bilateral" RELATED [OMIM:165550] synonym: "optic nerve hypoplasia, familial bilateral" RELATED [GARD:0008419] xref: DOID:0111531 {source="MONDO:equivalentTo"} xref: GARD:0008419 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H47.0 {source="ORDO:137902/attributed", source="ORDO:137902/ntbt", source="Orphanet:137902"} -xref: OMIM:165550 {source="MONDO:equivalentTo", source="ORDO:137902/e", source="Orphanet:137902"} +xref: ICD10CM:H47.0 {source="Orphanet:137902", source="Orphanet:137902/attributed", source="Orphanet:137902/ntbt"} +xref: OMIM:165550 {source="MONDO:equivalentTo", source="Orphanet:137902", source="Orphanet:137902/e"} xref: Orphanet:137902 {source="MONDO:equivalentTo", source="OMIM:165550"} xref: SCTID:724999003 {source="MONDO:equivalentTo"} xref: UMLS:C0338502 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137902"} @@ -148141,9 +148111,9 @@ synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OM synonym: "orofaciodigital syndrome X" EXACT [MONDO:Lexical, OMIM:165590] xref: DOID:0060380 {source="MONDO:equivalentTo"} xref: GARD:0004061 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:2756/attributed", source="ORDO:2756/ntbt", source="Orphanet:2756", source="DOID:0060380"} +xref: ICD10CM:Q87.0 {source="Orphanet:2756", source="Orphanet:2756/attributed", source="Orphanet:2756/ntbt", source="DOID:0060380"} xref: MESH:C563491 {source="MONDO:equivalentTo", source="DOID:0060380"} -xref: OMIM:165590 {source="MONDO:equivalentTo", source="ORDO:2756/e", source="Orphanet:2756", source="DOID:0060380"} +xref: OMIM:165590 {source="MONDO:equivalentTo", source="Orphanet:2756", source="DOID:0060380", source="Orphanet:2756/e"} xref: Orphanet:2756 {source="OMIM:165590", source="MONDO:equivalentTo", source="DOID:0060380"} xref: SCTID:722075004 {source="MONDO:equivalentTo"} xref: UMLS:C1833796 {source="OMIM:165590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2756"} @@ -148161,7 +148131,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:98606"} synonym: "orbital margin, hypoplasia OF" RELATED [OMIM:165600] synonym: "Urrets-Zavalia syndrome" EXACT [Orphanet:98606] xref: MESH:C563490 {source="MONDO:equivalentTo"} -xref: OMIM:165600 {source="MONDO:equivalentTo", source="ORDO:98606/e", source="Orphanet:98606"} +xref: OMIM:165600 {source="MONDO:equivalentTo", source="Orphanet:98606", source="Orphanet:98606/e"} xref: Orphanet:98606 {source="MONDO:equivalentTo", source="OMIM:165600"} xref: SCTID:717337001 {source="MONDO:equivalentTo"} xref: UMLS:C1833795 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98606", source="OMIM:165600"} @@ -148180,12 +148150,12 @@ synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megalobl synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660] synonym: "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" EXACT [Orphanet:2760] xref: GARD:0004129 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C41.9 {source="Orphanet:2760", source="ORDO:2760/attributed", source="ORDO:2760/ntbt"} -xref: MESH:C537138 {source="Orphanet:2760", source="ORDO:2760/e", source="MONDO:equivalentTo"} -xref: OMIM:165660 {source="Orphanet:2760", source="ORDO:2760/e", source="MONDO:equivalentTo"} +xref: ICD10CM:C41.9 {source="Orphanet:2760", source="Orphanet:2760/attributed", source="Orphanet:2760/ntbt"} +xref: MESH:C537138 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"} +xref: OMIM:165660 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"} xref: Orphanet:2760 {source="MONDO:equivalentTo", source="OMIM:165660"} xref: SCTID:733064004 {source="MONDO:equivalentTo"} -xref: UMLS:C1833792 {source="Orphanet:2760", source="ORDO:2760/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165660"} +xref: UMLS:C1833792 {source="Orphanet:2760", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165660", source="Orphanet:2760/e"} is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:2760"} ! neoplasm is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -148230,10 +148200,10 @@ synonym: "THIEMANN disease" RELATED [OMIM:165700] synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700] synonym: "Thiemann's disease" RELATED [GARD:0004131] xref: GARD:0004131 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M93.2 {source="Orphanet:3314", source="ORDO:3314/attributed", source="ORDO:3314/ntbt"} +xref: ICD10CM:M93.2 {source="Orphanet:3314/attributed", source="Orphanet:3314/ntbt", source="Orphanet:3314"} xref: ICD9:716.84 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537144 {source="MONDO:equivalentTo"} -xref: OMIM:165700 {source="Orphanet:3314", source="ORDO:3314/e", source="MONDO:equivalentTo"} +xref: OMIM:165700 {source="Orphanet:3314", source="MONDO:equivalentTo", source="Orphanet:3314/e"} xref: Orphanet:3314 {source="MONDO:equivalentTo", source="OMIM:165700"} xref: SCTID:55166000 {source="MONDO:equivalentTo"} xref: UMLS:C0264081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:165700"} @@ -148292,19 +148262,19 @@ synonym: "Ollier's disease" EXACT [NCIT:C3008] synonym: "osteochondromatosis" EXACT [DOID:4624] xref: DOID:4624 {source="MONDO:equivalentTo"} xref: GARD:0007251 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.4 {source="DOID:4624", source="ORDO:296/e", source="Orphanet:296", source="ORDO:296/specific"} -xref: MedDRA:10014642 {source="ORDO:296/e", source="Orphanet:296"} -xref: MESH:D004687 {source="DOID:4624", source="ORDO:296/e", source="Orphanet:296"} +xref: ICD10CM:Q78.4 {source="Orphanet:296/e", source="Orphanet:296/specific", source="DOID:4624", source="Orphanet:296"} +xref: MedDRA:10014642 {source="Orphanet:296/e", source="Orphanet:296"} +xref: MESH:D004687 {source="Orphanet:296/e", source="DOID:4624", source="Orphanet:296"} xref: NCIT:C3008 {source="MONDO:equivalentTo"} xref: NCIT:C3213 {source="DOID:4624", source="MONDO:directSiblingOf"} -xref: OMIM:166000 {source="DOID:4624", source="MONDO:equivalentTo", source="ORDO:296/e", source="Orphanet:296"} +xref: OMIM:166000 {source="Orphanet:296/e", source="DOID:4624", source="MONDO:equivalentTo", source="Orphanet:296"} xref: Orphanet:296 {source="DOID:4624", source="MONDO:equivalentTo", source="OMIM:166000"} xref: SCTID:205470006 {source="DOID:4624"} xref: SCTID:234135008 {source="DOID:4624"} xref: SCTID:268274005 {source="MONDO:equivalentTo"} xref: SCTID:46041001 {source="DOID:4624", source="MONDO:directSiblingOf"} xref: UMLS:C0013366 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:296"} -xref: UMLS:C0014084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166000", source="ORDO:296/e", source="Orphanet:296", source="NCIT:C3008"} +xref: UMLS:C0014084 {source="Orphanet:296/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166000", source="Orphanet:296", source="NCIT:C3008"} xref: UMLS:C0024454 {source="DOID:4624", source="MONDO:directSiblingOf"} xref: UMLS:C0206641 {source="MONDO:equivalentTo"} xref: UMLS:C3463923 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:166000"} @@ -148343,10 +148313,10 @@ synonym: "osteogenesis imperfecta, type I" RELATED [OMIM:166200] synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796] xref: DOID:0110334 {source="MONDO:equivalentTo"} xref: GARD:0008694 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="ORDO:216796/attributed", source="ORDO:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"} +xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216796/attributed", source="Orphanet:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"} xref: NCIT:C99003 {source="MONDO:equivalentTo"} -xref: OMIM:166200 {source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796", source="ORDO:216796/e"} -xref: OMIM:166230 {source="MONDO:superClassOf", source="ORDO:216796/btnt", source="Orphanet:216796"} +xref: OMIM:166200 {source="Orphanet:216796/e", source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796"} +xref: OMIM:166230 {source="MONDO:superClassOf", source="Orphanet:216796/btnt", source="Orphanet:216796"} xref: Orphanet:216796 {source="MONDO:equivalentTo", source="OMIM:166200", source="DOID:0110334"} xref: SCTID:385482004 {source="MONDO:equivalentTo"} xref: UMLS:C0023931 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C99003", source="OMIM:166200"} @@ -148377,13 +148347,13 @@ synonym: "Perinatally lethal OI" RELATED [GARD:0010142] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:166210] xref: DOID:0110341 {source="MONDO:equivalentTo"} xref: GARD:0010142 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="ORDO:216804/attributed", source="ORDO:216804/ntbt", source="Orphanet:216804", source="DOID:0110341"} +xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/attributed", source="Orphanet:216804/ntbt"} xref: MESH:C536042 {source="MONDO:equivalentTo"} xref: NCIT:C99001 {source="MONDO:equivalentTo"} -xref: OMIM:166210 {source="MONDO:equivalentTo", source="Orphanet:216804", source="ORDO:216804/e", source="DOID:0110341"} -xref: OMIM:259440 {source="ORDO:216804/btnt", source="Orphanet:216804", source="MONDO:directSiblingOf"} -xref: OMIM:610682 {source="ORDO:216804/btnt", source="Orphanet:216804", source="MONDO:directSiblingOf"} -xref: OMIM:610915 {source="ORDO:216804/btnt", source="Orphanet:216804", source="MONDO:directSiblingOf"} +xref: OMIM:166210 {source="MONDO:equivalentTo", source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/e"} +xref: OMIM:259440 {source="Orphanet:216804", source="MONDO:directSiblingOf", source="Orphanet:216804/btnt"} +xref: OMIM:610682 {source="Orphanet:216804", source="MONDO:directSiblingOf", source="Orphanet:216804/btnt"} +xref: OMIM:610915 {source="Orphanet:216804", source="MONDO:directSiblingOf", source="Orphanet:216804/btnt"} xref: Orphanet:216804 {source="MONDO:equivalentTo", source="OMIM:166210"} xref: SCTID:86470003 {source="MONDO:equivalentTo"} xref: UMLS:C0268358 {source="NCIT:C99001", source="OMIM:166210", source="Orphanet:216804", source="MONDO:notFoundInDiseaseSubset"} @@ -148409,21 +148379,21 @@ synonym: "osteogenesis imperfecta, type 4" RELATED [OMIM:166220] synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220] xref: DOID:0110340 {source="MONDO:equivalentTo"} xref: GARD:0008696 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216820", source="ORDO:216820/attributed", source="ORDO:216820/ntbt", source="DOID:0110340"} -xref: MESH:C536045 {source="Orphanet:216820", source="ORDO:216820/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216820", source="Orphanet:216820/attributed", source="Orphanet:216820/ntbt", source="DOID:0110340"} +xref: MESH:C536045 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e"} xref: NCIT:C98576 {source="MONDO:equivalentTo"} -xref: OMIM:166220 {source="Orphanet:216820", source="ORDO:216820/e", source="MONDO:equivalentTo", source="DOID:0110340"} -xref: OMIM:259440 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:610682 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:610968 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:613849 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:613982 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:615066 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:615220 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:616507 {source="Orphanet:216820", source="ORDO:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:166220 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e", source="DOID:0110340"} +xref: OMIM:259440 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:610682 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:610968 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:613849 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:613982 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:615066 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:615220 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:616507 {source="Orphanet:216820", source="Orphanet:216820/btnt", source="MONDO:directSiblingOf"} xref: Orphanet:216820 {source="MONDO:equivalentTo", source="OMIM:166220"} xref: SCTID:205497004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268363 {source="Orphanet:216820", source="ORDO:216820/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:166220", source="NCIT:C98576"} +xref: UMLS:C0268363 {source="Orphanet:216820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:216820/e", source="OMIM:166220", source="NCIT:C98576"} is_a: MONDO:0000001 {source="MONDO:0015669-obsoleted"} ! disease or disorder is_a: MONDO:0019019 {source="DC-OMIM:166220", source="DOID:0110340", source="MESH:C536045", source="NCIT:C98576", source="OMIM:166220", source="Orphanet:216820", source="linkedlifedata"} ! osteogenesis imperfecta property_value: confidence "1.2566407969820799" xsd:double @@ -148439,7 +148409,7 @@ xref: MESH:C563487 {source="MONDO:equivalentTo"} xref: OMIM:166230 {source="DOID:0110335", source="MONDO:equivalentTo"} xref: Orphanet:216796 {source="MONDO:subClassOf", source="OMIM:166230"} xref: UMLS:C1833748 {source="OMIM:166230", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008146 {source="ORDO:216796/btnt"} ! osteogenesis imperfecta type 1 +is_a: MONDO:0008146 {source="Orphanet:216796/btnt"} ! osteogenesis imperfecta type 1 property_value: confidence "1.2566407969820799" xsd:double [Term] @@ -148454,12 +148424,12 @@ synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical, OMIM:166250] synonym: "Osteoglosphonic dysplasia" RELATED [Orphanet:2645] xref: DOID:0111532 {source="MONDO:equivalentTo"} xref: GARD:0004142 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2645/attributed", source="ORDO:2645/ntbt", source="Orphanet:2645"} -xref: MESH:C536050 {source="MONDO:equivalentTo", source="Orphanet:2645", source="ORDO:2645/e"} -xref: OMIM:166250 {source="MONDO:equivalentTo", source="Orphanet:2645", source="ORDO:2645/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:2645", source="Orphanet:2645/attributed", source="Orphanet:2645/ntbt"} +xref: MESH:C536050 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"} +xref: OMIM:166250 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"} xref: Orphanet:2645 {source="OMIM:166250", source="MONDO:equivalentTo"} xref: SCTID:254144002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432283 {source="OMIM:166250", source="NCBI:mim2gene_medline", source="Orphanet:2645", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2645/e"} +xref: UMLS:C0432283 {source="OMIM:166250", source="NCBI:mim2gene_medline", source="Orphanet:2645", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2645/e"} is_a: MONDO:0002081 {source="GARD:0004142"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="GARD:0004142"} ! Mendelian disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3688 {source="mim2gene_medgen"} ! FGFR1 @@ -148481,7 +148451,7 @@ synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:1 xref: DOID:0111533 {source="MONDO:equivalentTo"} xref: GARD:0008698 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MESH:C536039 {source="MONDO:equivalentTo"} -xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="ORDO:53697/e"} +xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="Orphanet:53697/e"} xref: Orphanet:53697 {source="OMIM:166260", source="MONDO:equivalentTo"} xref: SCTID:715568002 {source="MONDO:equivalentTo"} xref: UMLS:C1833736 {source="OMIM:166260", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -148510,7 +148480,7 @@ xref: DOID:0111534 {source="MONDO:equivalentTo"} xref: GARD:0003818 {source="MONDO:equivalentTo"} xref: GARD:0013042 {source="MONDO:equivalentTo"} xref: MESH:C567171 {source="MONDO:equivalentTo"} -xref: OMIM:166300 {source="ORDO:2774/e", source="Orphanet:2774", source="MONDO:equivalentTo", source="GARD:0003818", source="GARD:0013042"} +xref: OMIM:166300 {source="Orphanet:2774", source="MONDO:equivalentTo", source="Orphanet:2774/e", source="GARD:0003818", source="GARD:0013042"} xref: Orphanet:2774 {source="MONDO:equivalentTo", source="OMIM:166300", source="GARD:0003818", source="GARD:0013042"} xref: SCTID:766992008 {source="MONDO:equivalentTo"} xref: UMLS:C2674705 {source="NCBI:mim2gene_medline", source="Orphanet:2774", source="MONDO:equivalentTo", source="OMIM:166300"} @@ -148534,13 +148504,13 @@ synonym: "osteoma cutis" RELATED [OMIM:166350] synonym: "poh" EXACT [MONDO:Lexical, OMIM:166350, Orphanet:2762] xref: DOID:0111535 {source="MONDO:equivalentTo"} xref: GARD:0000109 {source="MONDO:equivalentTo"} -xref: ICD10CM:M61.5 {source="Orphanet:2762", source="ORDO:2762/attributed", source="ORDO:2762/ntbt"} -xref: MedDRA:10048902 {source="Orphanet:2762", source="ORDO:2762/e"} +xref: ICD10CM:M61.5 {source="Orphanet:2762", source="Orphanet:2762/attributed", source="Orphanet:2762/ntbt"} +xref: MedDRA:10048902 {source="Orphanet:2762", source="Orphanet:2762/e"} xref: MESH:C562735 {source="MONDO:equivalentTo"} -xref: OMIM:166350 {source="Orphanet:2762", source="ORDO:2762/e", source="MONDO:equivalentTo"} +xref: OMIM:166350 {source="Orphanet:2762", source="MONDO:equivalentTo", source="Orphanet:2762/e"} xref: Orphanet:2762 {source="OMIM:166350", source="MONDO:equivalentTo"} xref: SCTID:719271000 {source="MONDO:equivalentTo"} -xref: UMLS:C0334041 {source="Orphanet:2762", source="ORDO:2762/e", source="NCBI:mim2gene_medline", source="OMIM:166350", source="MONDO:equivalentTo"} +xref: UMLS:C0334041 {source="Orphanet:2762", source="NCBI:mim2gene_medline", source="OMIM:166350", source="MONDO:equivalentTo", source="Orphanet:2762/e"} is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0021154 {source="Orphanet:2762"} ! dermis disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4392 {source="mim2gene_medgen"} ! GNAS @@ -148567,12 +148537,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2777"} synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777] synonym: "osteomesopyknosis" EXACT [OMIM:166450] xref: GARD:0000391 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.2 {source="ORDO:2777/attributed", source="ORDO:2777/ntbt", source="Orphanet:2777"} +xref: ICD10CM:Q78.2 {source="Orphanet:2777", source="Orphanet:2777/attributed", source="Orphanet:2777/ntbt"} xref: MESH:C537792 {source="MONDO:equivalentTo"} -xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="ORDO:2777/e"} +xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="Orphanet:2777/e"} xref: Orphanet:2777 {source="OMIM:166450", source="MONDO:equivalentTo"} xref: SCTID:254125009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432264 {source="OMIM:166450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2777", source="ORDO:2777/e"} +xref: UMLS:C0432264 {source="OMIM:166450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2777", source="Orphanet:2777/e"} is_a: MONDO:0017198 {source="Orphanet:2777"} ! osteopetrosis property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis xsd:anyURI {source="GARD:0000391"} @@ -148597,12 +148567,12 @@ synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [OMIM:166600] synonym: "osteosclerosis Fragilis generalisata" RELATED [OMIM:166600] xref: DOID:0110938 {source="MONDO:equivalentTo"} xref: GARD:0000383 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.2 {source="Orphanet:53", source="ORDO:53/inclusion", source="DOID:0110938", source="ORDO:53/ntbt"} -xref: OMIM:166600 {source="Orphanet:53", source="MONDO:equivalentTo", source="DOID:0110938", source="ORDO:53/e"} +xref: ICD10CM:Q78.2 {source="Orphanet:53", source="Orphanet:53/ntbt", source="DOID:0110938", source="Orphanet:53/inclusion"} +xref: OMIM:166600 {source="Orphanet:53", source="MONDO:equivalentTo", source="Orphanet:53/e", source="DOID:0110938"} xref: Orphanet:53 {source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600"} xref: SCTID:725050005 {source="MONDO:equivalentTo"} xref: UMLS:C1833700 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C3179239 {source="Orphanet:53", source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600", source="ORDO:53/e"} +xref: UMLS:C3179239 {source="Orphanet:53", source="MONDO:equivalentTo", source="Orphanet:53/e", source="DOID:0110938", source="OMIM:166600"} is_a: MONDO:0017198 {source="DC-OMIM:166600", source="DOID:0110938", source="OMIM:166600", source="Orphanet:53"} ! osteopetrosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2025 {source="mim2gene_medgen"} ! CLCN7 relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:53"} ! obsolete unclassified primitive or secondary maculopathy @@ -148630,9 +148600,9 @@ synonym: "osteopoikilosis with or without melorheostosis" EXACT [OMIM:166700, OM synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700] xref: DOID:0111536 {source="MONDO:equivalentTo"} xref: GARD:0001044 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:1306/attributed", source="ORDO:1306/ntbt", source="Orphanet:1306"} -xref: MESH:C537415 {source="MONDO:equivalentTo", source="ORDO:1306/e", source="Orphanet:1306"} -xref: OMIM:166700 {source="MONDO:equivalentTo", source="ORDO:1306/e", source="Orphanet:1306"} +xref: ICD10CM:Q78.8 {source="Orphanet:1306/attributed", source="Orphanet:1306/ntbt", source="Orphanet:1306"} +xref: MESH:C537415 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} +xref: OMIM:166700 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} xref: Orphanet:1306 {source="MONDO:equivalentTo", source="OMIM:166700"} xref: Orphanet:166119 {source="MONDO:superClassOf", source="OMIM:166700"} xref: UMLS:C0265514 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1306", source="OMIM:166700"} @@ -148655,11 +148625,11 @@ synonym: "Gunal Seber Basaran syndrome" RELATED [GARD:0000351] synonym: "Gunal-Seber-Basaran syndrome" EXACT [Orphanet:1562] synonym: "osteopoikilosis and dacryocystitis" RELATED [OMIM:166705] xref: GARD:0000351 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536061 {source="ORDO:1562/e", source="Orphanet:1562", source="MONDO:equivalentTo"} -xref: OMIM:166705 {source="ORDO:1562/e", source="Orphanet:1562", source="MONDO:equivalentTo"} +xref: MESH:C536061 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} +xref: OMIM:166705 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} xref: Orphanet:1562 {source="OMIM:166705", source="MONDO:equivalentTo"} xref: SCTID:721082002 {source="MONDO:equivalentTo"} -xref: UMLS:C1833698 {source="ORDO:1562/e", source="OMIM:166705", source="Orphanet:1562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1833698 {source="OMIM:166705", source="Orphanet:1562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1562/e"} is_a: MONDO:0006025 {source="Orphanet:1562"} ! autosomal recessive disease relationship: disease_has_feature HP:0011001 {source="Orphanet:1562"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1562"} ! obsolete primary bone dysplasia with increased bone density @@ -148705,8 +148675,8 @@ synonym: "otodental dysplasia chromosome deletion syndrome" EXACT [OMIM:166750, synonym: "otodental syndrome" EXACT [OMIM:166750] synonym: "otodental syndrome with coloboma" RELATED [OMIM:166750] xref: GARD:0004168 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K00.2 {source="ORDO:2791/attributed", source="ORDO:2791/ntbt", source="Orphanet:2791"} -xref: OMIM:166750 {source="MONDO:equivalentTo", source="Orphanet:2791", source="ORDO:2791/e"} +xref: ICD10CM:K00.2 {source="Orphanet:2791/attributed", source="Orphanet:2791/ntbt", source="Orphanet:2791"} +xref: OMIM:166750 {source="Orphanet:2791/e", source="MONDO:equivalentTo", source="Orphanet:2791"} xref: Orphanet:2791 {source="MONDO:equivalentTo", source="OMIM:166750"} xref: Orphanet:99806 {source="MONDO:superClassOf", source="OMIM:166750"} xref: SCTID:707310009 {source="MONDO:equivalentTo"} @@ -148740,13 +148710,13 @@ subset: prototype_pattern synonym: "Fara-Chlupackova syndrome" EXACT [Orphanet:2792] synonym: "OFC syndrome" EXACT [Orphanet:2792] xref: GARD:0004169 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2792", source="ORDO:2792/attributed", source="ORDO:2792/ntbt"} -xref: OMIM:166780 {source="Orphanet:2792", source="MONDO:superClassOf", source="ORDO:2792/e"} -xref: OMIM:615560 {source="Orphanet:2792", source="MONDO:superClassOf", source="ORDO:2792/btnt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2792", source="Orphanet:2792/attributed", source="Orphanet:2792/ntbt"} +xref: OMIM:166780 {source="Orphanet:2792", source="MONDO:superClassOf", source="Orphanet:2792/e"} +xref: OMIM:615560 {source="Orphanet:2792", source="Orphanet:2792/btnt", source="MONDO:superClassOf"} xref: OMIMPS:166780 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="OMIM:166780", source="MONDO:equivalentTo"} xref: UMLS:C1833691 {source="Orphanet:2792", source="MONDO:equivalentTo"} -xref: UMLS:C2931416 {source="Orphanet:2792", source="MONDO:relatedTo", source="ORDO:2792/e"} +xref: UMLS:C2931416 {source="Orphanet:2792", source="MONDO:relatedTo", source="Orphanet:2792/e"} xref: UMLS:C3714941 {source="OMIM:166780", source="MONDO:superClassOf"} is_a: MONDO:0015334 {source="Orphanet:2792"} ! branchial arch or oral-acral syndrome is_a: MONDO:0021147 {source="Orphanet:2792", source="Orphanet:2792/inferred"} ! disorder of development or morphogenesis @@ -148783,9 +148753,9 @@ synonym: "ovalocytosis, SA type" EXACT [OMIM:166900, OMIM:genemap2] synonym: "ovalocytosis, southeast Asian" RELATED [OMIM:166900] synonym: "sao" EXACT [Orphanet:98868] synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868] -xref: ICD10CM:D58.1 {source="MONDO:subClassOf", source="ORDO:98868/attributed", source="ORDO:98868/ntbt", source="Orphanet:98868"} +xref: ICD10CM:D58.1 {source="MONDO:subClassOf", source="Orphanet:98868", source="Orphanet:98868/attributed", source="Orphanet:98868/ntbt"} xref: ICD9:282.1 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:166900 {source="ORDO:98868/e", source="MONDO:equivalentTo", source="Orphanet:98868"} +xref: OMIM:166900 {source="MONDO:equivalentTo", source="Orphanet:98868", source="Orphanet:98868/e"} xref: Orphanet:288 {source="MONDO:subClassOf", source="OMIM:166900"} xref: Orphanet:98868 {source="MONDO:equivalentTo"} xref: SCTID:191169008 {source="MONDO:equivalentTo"} @@ -148844,14 +148814,14 @@ synonym: "ovarian fibroma" EXACT [MONDO:ambiguous, NCIT:C3498] synonym: "ovarian fibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ovarian fibromata" RELATED [OMIM:166970] xref: HP:0010618 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D27 {source="ORDO:314473/ntbt", source="Orphanet:314473"} -xref: MedDRA:10064257 {source="ORDO:314473/e", source="Orphanet:314473"} +xref: ICD10CM:D27 {source="Orphanet:314473/ntbt", source="Orphanet:314473"} +xref: MedDRA:10064257 {source="Orphanet:314473/e", source="Orphanet:314473"} xref: MESH:C562391 {source="MONDO:equivalentTo"} xref: NCIT:C3498 {source="MONDO:equivalentTo"} xref: OMIM:166970 {source="MONDO:equivalentTo"} xref: Orphanet:314473 {source="MONDO:equivalentTo"} xref: SCTID:254865006 {source="MONDO:equivalentTo"} -xref: UMLS:C0149951 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3498", source="OMIM:166970", source="ORDO:314473/e", source="Orphanet:314473"} +xref: UMLS:C0149951 {source="Orphanet:314473/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3498", source="OMIM:166970", source="Orphanet:314473"} is_a: MONDO:0000624 {source="MONDO:Redundant", source="NCIT:C3498/inferred"} ! benign female reproductive system neoplasm is_a: MONDO:0000646 {source="Orphanet:314473"} ! ovarian benign neoplasm is_a: MONDO:0005167 {source="MESH:C562391", source="NCIT:C3498", source="linkedlifedata"} ! fibroma @@ -148966,7 +148936,7 @@ synonym: "PHOAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:167100] xref: OMIM:167100 {source="MONDO:equivalentTo"} xref: Orphanet:2796 {source="MONDO:subClassOf", source="OMIM:167100"} xref: UMLS:C2674695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167100"} -is_a: MONDO:0016620 {source="MONDO:0008172/inferred", source="MONDO:Redundant", source="OMIM:167100", source="ORDO:2796/btnt", source="indirect"} ! primary hypertrophic osteoarthropathy +is_a: MONDO:0016620 {source="MONDO:0008172/inferred", source="MONDO:Redundant", source="OMIM:167100", source="Orphanet:2796/btnt", source="indirect"} ! primary hypertrophic osteoarthropathy property_value: confidence "0.12499999999999978" xsd:double [Term] @@ -149023,12 +148993,12 @@ synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [OMIM:1672 synonym: "pacman dysplasia" EXACT [OMIM:167220] synonym: "Pacman syndrome" RELATED [GARD:0004189] xref: GARD:0004189 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:1952/attributed", source="ORDO:1952/ntbt", source="Orphanet:1952"} -xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="ORDO:1952/e"} -xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="ORDO:1952/e"} +xref: ICD10CM:Q77.8 {source="Orphanet:1952", source="Orphanet:1952/attributed", source="Orphanet:1952/ntbt"} +xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} +xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} xref: Orphanet:1952 {source="OMIM:167220", source="MONDO:equivalentTo"} xref: SCTID:722127006 {source="MONDO:equivalentTo"} -xref: UMLS:C1833676 {source="OMIM:167220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1952", source="ORDO:1952/e"} +xref: UMLS:C1833676 {source="OMIM:167220", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} is_a: MONDO:0019707 {source="Orphanet:1952"} ! primary osteolysis property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia xsd:anyURI {source="GARD:0004189"} @@ -149066,16 +149036,16 @@ synonym: "Paget's disease of the skin" EXACT [NCIT:C3302] synonym: "Paget's skin disease" EXACT [NCIT:C3302] xref: EFO:1000249 {source="MONDO:equivalentTo"} xref: GARD:0004192 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C44.5 {source="ORDO:2800/ntbt", source="Orphanet:2800"} +xref: ICD10CM:C44.5 {source="Orphanet:2800", source="Orphanet:2800/ntbt"} xref: ICDO:8542/3 {source="NCIT:C3302"} -xref: MedDRA:10033366 {source="ORDO:2800/e", source="Orphanet:2800"} -xref: MedDRA:10068223 {source="ORDO:2800/e", source="Orphanet:2800"} -xref: MESH:D010145 {source="MONDO:equivalentTo", source="ORDO:2800/e", source="Orphanet:2800"} +xref: MedDRA:10033366 {source="Orphanet:2800", source="Orphanet:2800/e"} +xref: MedDRA:10068223 {source="Orphanet:2800", source="Orphanet:2800/e"} +xref: MESH:D010145 {source="MONDO:equivalentTo", source="Orphanet:2800", source="Orphanet:2800/e"} xref: NCIT:C3302 {source="MONDO:equivalentTo", source="EFO:1000249"} -xref: OMIM:167300 {source="MONDO:equivalentTo", source="ORDO:2800/e", source="Orphanet:2800"} +xref: OMIM:167300 {source="MONDO:equivalentTo", source="Orphanet:2800", source="Orphanet:2800/e"} xref: ONCOTREE:EMPD {source="MONDO:equivalentTo"} xref: Orphanet:2800 {source="MONDO:equivalentTo", source="OMIM:167300"} -xref: UMLS:C0030186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2800/e", source="OMIM:167300", source="Orphanet:2800", source="NCIT:C3302"} +xref: UMLS:C0030186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167300", source="Orphanet:2800", source="NCIT:C3302", source="Orphanet:2800/e"} is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C3302"} ! Paget disease relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:2800"} ! obsolete rare skin tumor or hamartoma property_value: confidence "3.7222222222222223" xsd:double @@ -149120,7 +149090,7 @@ xref: GARD:0012854 {source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563475 {source="MONDO:equivalentTo"} xref: NCIT:C125385 {source="MONDO:equivalentTo"} -xref: OMIM:167400 {source="Orphanet:46348", source="MONDO:equivalentTo", source="ORDO:46348/e"} +xref: OMIM:167400 {source="Orphanet:46348", source="MONDO:equivalentTo", source="Orphanet:46348/e"} xref: Orphanet:46348 {source="MONDO:equivalentTo", source="OMIM:167400"} xref: SCTID:699190008 {source="MONDO:equivalentTo"} xref: UMLS:C1833661 {source="Orphanet:46348", source="NCBI:mim2gene_medline", source="NCIT:C125385", source="MONDO:equivalentTo", source="OMIM:167400"} @@ -149138,12 +149108,12 @@ synonym: "palatopharyngeal incompetence" RELATED [OMIM:167500] synonym: "velopharyngeal incompetence" RELATED [OMIM:167500] synonym: "velopharyngeal insufficiency" RELATED [OMIM:167500] xref: GARD:0005470 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:J39.2 {source="ORDO:2291/attributed", source="ORDO:2291/ntbt", source="Orphanet:2291"} +xref: ICD10CM:J39.2 {source="Orphanet:2291/attributed", source="Orphanet:2291/ntbt", source="Orphanet:2291"} xref: MESH:D014681 {source="MONDO:equivalentTo"} -xref: OMIM:167500 {source="MONDO:equivalentTo", source="ORDO:2291/e", source="Orphanet:2291"} +xref: OMIM:167500 {source="Orphanet:2291/e", source="MONDO:equivalentTo", source="Orphanet:2291"} xref: Orphanet:2291 {source="MONDO:equivalentTo", source="OMIM:167500"} xref: UMLS:C0042454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167500"} -xref: UMLS:C1997202 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2291/e", source="Orphanet:2291"} +xref: UMLS:C1997202 {source="Orphanet:2291/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2291"} is_a: MONDO:0015504 {source="Orphanet:2291"} ! larynx anomaly is_a: MONDO:0018562 {source="Orphanet:2291", source="Orphanet:2291/inferred"} ! genetic otorhinolaryngological malformation property_value: confidence "8.333333333333334" xsd:double @@ -149169,12 +149139,12 @@ synonym: "NPLCS" RELATED ABBREVIATION [OMIM:167730] synonym: "palpebral coloboma lipoma syndrome" RELATED [GARD:0003927] synonym: "palpebral coloboma-lipoma syndrome" RELATED [OMIM:167730] xref: GARD:0003927 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q10.3 {source="Orphanet:2399", source="ORDO:2399/attributed", source="ORDO:2399/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:2399", source="Orphanet:2399/attributed", source="Orphanet:2399/ntbt"} xref: MESH:C538338 {source="MONDO:equivalentTo"} -xref: OMIM:167730 {source="Orphanet:2399", source="ORDO:2399/e", source="MONDO:equivalentTo"} +xref: OMIM:167730 {source="Orphanet:2399", source="MONDO:equivalentTo", source="Orphanet:2399/e"} xref: Orphanet:2399 {source="MONDO:equivalentTo", source="OMIM:167730"} xref: SCTID:723411003 {source="MONDO:equivalentTo"} -xref: UMLS:C1868660 {source="Orphanet:2399", source="ORDO:2399/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167730"} +xref: UMLS:C1868660 {source="Orphanet:2399", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167730", source="Orphanet:2399/e"} is_a: MONDO:0015161 {source="Orphanet:2399", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020157 {source="Orphanet:2399"} ! syndromic palpebral coloboma is_a: MONDO:0043008 {source="Orphanet:2399"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -149190,14 +149160,14 @@ subset: ordo_morphological_anomaly {source="Orphanet:675"} synonym: "pancreas, annular" RELATED [OMIM:167750] xref: DOID:0060850 {source="MONDO:equivalentTo"} xref: GARD:0000705 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q45.1 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="ORDO:675/attributed", source="ORDO:675/ntbt"} -xref: MedDRA:10071757 {source="Orphanet:675", source="ORDO:675/e"} -xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="ORDO:675/e"} +xref: ICD10CM:Q45.1 {source="Orphanet:675", source="Orphanet:675/attributed", source="Orphanet:675/ntbt", source="DOID:0060850", source="MONDO:equivalentTo"} +xref: MedDRA:10071757 {source="Orphanet:675", source="Orphanet:675/e"} +xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"} xref: NCIT:C98813 {source="MONDO:equivalentTo"} -xref: OMIM:167750 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="ORDO:675/e"} +xref: OMIM:167750 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"} xref: Orphanet:675 {source="DOID:0060850", source="MONDO:equivalentTo", source="OMIM:167750"} xref: SCTID:40315008 {source="MONDO:equivalentTo"} -xref: UMLS:C0149955 {source="NCIT:C98813", source="Orphanet:675", source="DOID:0060850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167750", source="ORDO:675/e"} +xref: UMLS:C0149955 {source="NCIT:C98813", source="Orphanet:675", source="DOID:0060850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167750", source="Orphanet:675/e"} is_a: MONDO:0015213 {source="Orphanet:675"} ! non-syndromic visceral malformation property_value: confidence "38.682539682539684" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/705/annular-pancreas xsd:anyURI {source="GARD:0000705"} @@ -149216,7 +149186,7 @@ xref: MESH:C538109 {source="MONDO:equivalentTo"} xref: OMIM:167755 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="MONDO:subClassOf", source="OMIM:167755"} xref: UMLS:C1868659 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:167755"} -is_a: MONDO:0009832 {source="ORDO:2805/btnt"} ! pancreatic agenesis +is_a: MONDO:0009832 {source="Orphanet:2805/btnt"} ! pancreatic agenesis property_value: confidence "2.250000000000001" xsd:double [Term] @@ -149242,15 +149212,15 @@ synonym: "pancreatitis, chronic, susceptibility to" RELATED [OMIM:167800] synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800] synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical, OMIM:167800] xref: GARD:0006632 {source="MONDO:equivalentTo"} -xref: ICD10CM:K86.1 {source="Orphanet:676", source="ORDO:676/attributed", source="ORDO:676/ntbt"} +xref: ICD10CM:K86.1 {source="Orphanet:676", source="Orphanet:676/attributed", source="Orphanet:676/ntbt"} xref: ICD9:577.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537262 {source="MONDO:equivalentTo"} xref: NCIT:C95436 {source="MONDO:equivalentTo"} -xref: OMIM:167800 {source="Orphanet:676", source="GARD:0006632", source="MONDO:equivalentTo", source="ORDO:676/e"} +xref: OMIM:167800 {source="Orphanet:676", source="GARD:0006632", source="MONDO:equivalentTo", source="Orphanet:676/e"} xref: Orphanet:676 {source="GARD:0006632", source="MONDO:equivalentTo", source="OMIM:167800"} xref: SCTID:68072000 {source="MONDO:equivalentTo"} xref: UMLS:C0238339 {source="NCIT:C95436", source="Orphanet:676", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:167800"} -xref: UMLS:C0341474 {source="Orphanet:676", source="MONDO:notFoundInDiseaseSubset", source="ORDO:676/e"} +xref: UMLS:C0341474 {source="Orphanet:676", source="Orphanet:676/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1832108 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:167800"} xref: UMLS:C1868653 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:167800"} xref: UMLS:C1969419 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:167800"} @@ -149373,7 +149343,7 @@ xref: UMLS:C0030422 {source="OMIM:168000", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1868633 {source="NCBI:mim2gene_medline", source="OMIM:168000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3494181 {source="OMIM:168000", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000448 {source="DC-OMIM:168000", source="MONDO:Redundant", source="OMIM:168000"} ! paraganglioma -is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10683 ! SDHD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10683 {source="mim2gene_medgen"} ! SDHD @@ -149393,7 +149363,7 @@ xref: OMIM:168100 {source="MONDO:equivalentTo"} xref: Orphanet:171695 {source="MONDO:subClassOf", source="OMIM:168100"} xref: SCTID:43647007 {source="MONDO:equivalentTo"} xref: UMLS:C0238344 {source="OMIM:168100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0009830 {source="ORDO:171695/btnt"} ! parkinsonian-pyramidal syndrome +is_a: MONDO:0009830 {source="Orphanet:171695/btnt"} ! parkinsonian-pyramidal syndrome property_value: confidence "0.3096492687679333" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt xsd:anyURI {source="GARD:0010359"} @@ -149424,15 +149394,15 @@ synonym: "PMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168300] synonym: "Von Eulenburg paramyotonia congenita" RELATED [GARD:0007325] xref: DOID:0111538 {source="MONDO:equivalentTo"} xref: GARD:0007325 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.1 {source="ORDO:684/ntbt", source="ORDO:684/inclusion", source="Orphanet:684"} +xref: ICD10CM:G71.1 {source="Orphanet:684/ntbt", source="Orphanet:684/inclusion", source="Orphanet:684"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538616 {source="ORDO:684/e", source="Orphanet:684"} +xref: MESH:C538616 {source="Orphanet:684/e", source="Orphanet:684"} xref: NCIT:C122790 {source="MONDO:equivalentTo"} -xref: OMIM:168300 {source="MONDO:equivalentTo", source="ORDO:684/e", source="Orphanet:684"} +xref: OMIM:168300 {source="Orphanet:684/e", source="MONDO:equivalentTo", source="Orphanet:684"} xref: Orphanet:684 {source="MONDO:equivalentTo", source="OMIM:168300"} xref: SCTID:41574007 {source="MONDO:equivalentTo"} xref: UMLS:C0221055 {source="NCIT:C122790", source="OMIM:168300", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:684"} -xref: UMLS:C1868617 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:684/e", source="Orphanet:684"} +xref: UMLS:C1868617 {source="NCBI:mim2gene_medline", source="Orphanet:684/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:684"} xref: UMLS:C1868619 {source="OMIM:168300", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016120 {source="Orphanet:684"} ! myotonic syndrome is_a: MONDO:0019119 {source="Orphanet:684"} ! muscular channelopathy @@ -149449,12 +149419,12 @@ synonym: "parastremmatic dwarfism" EXACT [OMIM:168400] synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222] xref: DOID:0111539 {source="MONDO:equivalentTo"} xref: GARD:0004222 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:2646/attributed", source="ORDO:2646/ntbt", source="Orphanet:2646"} -xref: MESH:C537172 {source="MONDO:equivalentTo", source="ORDO:2646/e", source="Orphanet:2646"} -xref: OMIM:168400 {source="MONDO:equivalentTo", source="ORDO:2646/e", source="Orphanet:2646"} +xref: ICD10CM:Q87.1 {source="Orphanet:2646", source="Orphanet:2646/attributed", source="Orphanet:2646/ntbt"} +xref: MESH:C537172 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} +xref: OMIM:168400 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} xref: Orphanet:2646 {source="MONDO:equivalentTo", source="OMIM:168400"} xref: SCTID:722210007 {source="MONDO:equivalentTo"} -xref: UMLS:C1868616 {source="NCBI:mim2gene_medline", source="ORDO:2646/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:168400", source="Orphanet:2646"} +xref: UMLS:C1868616 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:168400", source="Orphanet:2646", source="Orphanet:2646/e"} is_a: MONDO:0018240 {source="Orphanet:2646"} ! TRPV4-related bone disorder is_a: MONDO:0019698 {source="Orphanet:2646"} ! bent bone dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18083 {source="mim2gene_medgen"} ! TRPV4 @@ -149496,9 +149466,9 @@ synonym: "parietal foramina with clavicular hypoplasia" RELATED [Orphanet:251290 synonym: "parietal foramina with cleidocranial dysostosis" EXACT [Orphanet:251290] synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550] synonym: "PFMCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168550] -xref: ICD10CM:Q74.0 {source="Orphanet:251290", source="ORDO:251290/attributed", source="ORDO:251290/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:251290/attributed", source="Orphanet:251290/ntbt", source="Orphanet:251290"} xref: MESH:C566825 {source="MONDO:equivalentTo"} -xref: OMIM:168550 {source="MONDO:equivalentTo", source="Orphanet:251290", source="ORDO:251290/e"} +xref: OMIM:168550 {source="Orphanet:251290/e", source="MONDO:equivalentTo", source="Orphanet:251290"} xref: Orphanet:251290 {source="OMIM:168550", source="MONDO:equivalentTo"} xref: UMLS:C1868597 {source="NCBI:mim2gene_medline", source="OMIM:168550", source="MONDO:equivalentTo", source="Orphanet:251290"} is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia @@ -149525,15 +149495,15 @@ synonym: "Parkinson disease, late-onset, susceptibility to, Multifactorial" EXAC synonym: "Parkinson disease, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] synonym: "PD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168600] xref: DOID:0060892 {source="MONDO:equivalentTo"} -xref: ICD10CM:G20 {source="ORDO:411602/attributed", source="ORDO:411602/ntbt", source="Orphanet:411602"} +xref: ICD10CM:G20 {source="Orphanet:411602", source="Orphanet:411602/attributed", source="Orphanet:411602/ntbt"} xref: OMIM:168600 {source="MONDO:equivalentTo"} -xref: OMIM:168601 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} -xref: OMIM:605543 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} -xref: OMIM:607060 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} -xref: OMIM:607688 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} -xref: OMIM:614203 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} -xref: OMIM:614251 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} -xref: OMIM:616361 {source="MONDO:superClassOf", source="ORDO:411602/btnt", source="Orphanet:411602"} +xref: OMIM:168601 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} +xref: OMIM:605543 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} +xref: OMIM:607060 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} +xref: OMIM:607688 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} +xref: OMIM:614203 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} +xref: OMIM:614251 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} +xref: OMIM:616361 {source="MONDO:superClassOf", source="Orphanet:411602", source="Orphanet:411602/btnt"} xref: Orphanet:411602 {source="DOID:0060892", source="MONDO:equivalentTo"} xref: SCTID:716662004 {source="MONDO:equivalentTo"} xref: UMLS:C3160718 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168600"} @@ -149584,7 +149554,7 @@ xref: DOID:0060486 {source="MONDO:equivalentTo"} xref: GARD:0010453 {source="MONDO:equivalentTo"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566822 {source="DOID:0060486", source="MONDO:equivalentTo"} -xref: OMIM:168605 {source="DOID:0060486", source="MONDO:equivalentTo", source="ORDO:178509/e", source="Orphanet:178509"} +xref: OMIM:168605 {source="DOID:0060486", source="Orphanet:178509/e", source="MONDO:equivalentTo", source="Orphanet:178509"} xref: Orphanet:178509 {source="DOID:0060486", source="MONDO:equivalentTo", source="OMIM:168605"} xref: SCTID:699184009 {source="MONDO:equivalentTo"} xref: UMLS:C1868594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:168605", source="Orphanet:178509"} @@ -149634,11 +149604,11 @@ synonym: "patella aplasia or hypoplasia" EXACT [OMIM:168860, OMIM:genemap2] synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical, OMIM:168860] synonym: "PTLAH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168860, Orphanet:86789] xref: GARD:0008709 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.1 {source="Orphanet:86789", source="ORDO:86789/ntbt", source="ORDO:86789/inclusion"} -xref: MESH:C535568 {source="ORDO:86789/e", source="MONDO:equivalentTo", source="Orphanet:86789"} -xref: OMIM:168860 {source="ORDO:86789/e", source="MONDO:equivalentTo", source="Orphanet:86789"} +xref: ICD10CM:Q74.1 {source="Orphanet:86789/inclusion", source="Orphanet:86789", source="Orphanet:86789/ntbt"} +xref: MESH:C535568 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"} +xref: OMIM:168860 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"} xref: Orphanet:86789 {source="MONDO:equivalentTo", source="OMIM:168860"} -xref: UMLS:C1868577 {source="ORDO:86789/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:168860", source="Orphanet:86789"} +xref: UMLS:C1868577 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:168860", source="Orphanet:86789", source="Orphanet:86789/e"} is_a: MONDO:0015227 {source="Orphanet:86789"} ! non-syndromic limb malformation is_a: MONDO:0019712 {source="Orphanet:86789"} ! patellar dysostosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -149653,9 +149623,9 @@ synonym: "Ouvrier Billson syndrome" RELATED [GARD:0004176] synonym: "Ouvrier-Billson syndrome" EXACT [Orphanet:1179] synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [OMIM:168885] xref: GARD:0004176 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G96.8 {source="Orphanet:1179", source="ORDO:1179/attributed", source="ORDO:1179/ntbt"} +xref: ICD10CM:G96.8 {source="Orphanet:1179/attributed", source="Orphanet:1179/ntbt", source="Orphanet:1179"} xref: MESH:C566817 {source="MONDO:equivalentTo"} -xref: OMIM:168885 {source="ORDO:1179/e", source="Orphanet:1179", source="MONDO:equivalentTo"} +xref: OMIM:168885 {source="Orphanet:1179", source="MONDO:equivalentTo", source="Orphanet:1179/e"} xref: Orphanet:1179 {source="MONDO:equivalentTo", source="OMIM:168885"} xref: SCTID:763127004 {source="MONDO:equivalentTo"} xref: UMLS:C1868576 {source="NCBI:mim2gene_medline", source="Orphanet:1179", source="MONDO:equivalentTo", source="OMIM:168885"} @@ -149674,10 +149644,10 @@ synonym: "patella chondromalacia" EXACT [MONDO:patterns/location] synonym: "patella, chondromalacia OF" RELATED [OMIM:168900] synonym: "softening of articular cartilage of patella" EXACT [DOID:13357] xref: DOID:13357 {source="MONDO:equivalentTo"} -xref: ICD10CM:M22.4 {source="ORDO:1428/attributed", source="ORDO:1428/ntbt", source="MONDO:equivalentTo", source="Orphanet:1428", source="DOID:13357"} +xref: ICD10CM:M22.4 {source="MONDO:equivalentTo", source="Orphanet:1428", source="Orphanet:1428/attributed", source="Orphanet:1428/ntbt", source="DOID:13357"} xref: ICD9:717.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:13357"} xref: MESH:D046789 {source="MONDO:equivalentTo", source="DOID:13357"} -xref: OMIM:168900 {source="MONDO:equivalentTo", source="Orphanet:1428", source="ORDO:1428/e", source="DOID:13357"} +xref: OMIM:168900 {source="Orphanet:1428/e", source="MONDO:equivalentTo", source="Orphanet:1428", source="DOID:13357"} xref: Orphanet:1428 {source="MONDO:equivalentTo", source="OMIM:168900"} xref: SCTID:156521009 {source="DOID:13357"} xref: SCTID:36071006 {source="MONDO:equivalentTo", source="DOID:13357"} @@ -149711,14 +149681,14 @@ synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth di synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [Orphanet:46627] xref: DOID:0060563 {source="MONDO:equivalentTo"} xref: GARD:0001237 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:46627", source="ORDO:46627/attributed", source="ORDO:46627/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:46627/attributed", source="Orphanet:46627/ntbt", source="Orphanet:46627"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538076 {source="ORDO:46627/e", source="Orphanet:46627"} +xref: MESH:C538076 {source="Orphanet:46627", source="Orphanet:46627/e"} xref: MESH:C566815 {source="DOID:0060563", source="MONDO:equivalentTo"} -xref: OMIM:169100 {source="DOID:0060563", source="ORDO:46627/e", source="Orphanet:46627", source="MONDO:equivalentTo"} +xref: OMIM:169100 {source="DOID:0060563", source="Orphanet:46627", source="MONDO:equivalentTo", source="Orphanet:46627/e"} xref: Orphanet:46627 {source="OMIM:169100", source="MONDO:equivalentTo"} xref: SCTID:703534001 {source="MONDO:equivalentTo"} -xref: UMLS:C1868570 {source="ORDO:46627/e", source="Orphanet:46627", source="NCBI:mim2gene_medline", source="OMIM:169100", source="MONDO:equivalentTo"} +xref: UMLS:C1868570 {source="Orphanet:46627", source="NCBI:mim2gene_medline", source="OMIM:169100", source="MONDO:equivalentTo", source="Orphanet:46627/e"} is_a: MONDO:0011827 {source="DOID:0060563", source="MESH:C566815"} ! patent ductus arteriosus is_a: MONDO:0015160 {source="Orphanet:46627", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -149762,11 +149732,11 @@ synonym: "Patterson pseudoleprechaunism syndrome" RELATED [OMIM:169170] synonym: "Patterson syndrome" EXACT [Orphanet:2976] synonym: "Patterson's leprechaunoid syndrome" RELATED [GARD:0004259] xref: GARD:0004259 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E34.8 {source="ORDO:2976/attributed", source="ORDO:2976/ntbt", source="Orphanet:2976"} -xref: MESH:C536310 {source="MONDO:equivalentTo", source="ORDO:2976/e", source="Orphanet:2976"} -xref: OMIM:169170 {source="MONDO:equivalentTo", source="ORDO:2976/e", source="Orphanet:2976"} +xref: ICD10CM:E34.8 {source="Orphanet:2976", source="Orphanet:2976/attributed", source="Orphanet:2976/ntbt"} +xref: MESH:C536310 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"} +xref: OMIM:169170 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"} xref: Orphanet:2976 {source="MONDO:equivalentTo", source="OMIM:169170"} -xref: UMLS:C1868546 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2976/e", source="Orphanet:2976", source="OMIM:169170"} +xref: UMLS:C1868546 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2976", source="OMIM:169170", source="Orphanet:2976/e"} is_a: MONDO:0005495 {source="Orphanet:2976"} ! adrenal gland disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: confidence "8.6" xsd:double @@ -149839,13 +149809,13 @@ synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" R synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [OMIM:169500] xref: DOID:0060785 {source="MONDO:equivalentTo"} xref: GARD:0010587 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:99027", source="DOID:0060785", source="ORDO:99027/attributed", source="ORDO:99027/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:99027", source="DOID:0060785", source="Orphanet:99027/attributed", source="Orphanet:99027/ntbt"} xref: MESH:C566813 {source="MONDO:equivalentTo"} -xref: OMIM:169500 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:equivalentTo", source="ORDO:99027/e"} +xref: OMIM:169500 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:equivalentTo", source="Orphanet:99027/e"} xref: Orphanet:99027 {source="DOID:0060785", source="MONDO:equivalentTo", source="OMIM:169500"} xref: SCTID:448054001 {source="MONDO:equivalentTo"} xref: UMLS:C1868512 {source="Orphanet:99027", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:169500"} -xref: UMLS:C3164344 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:notFoundInDiseaseSubset", source="ORDO:99027/e"} +xref: UMLS:C3164344 {source="Orphanet:99027", source="DOID:0060785", source="Orphanet:99027/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016956 {source="Orphanet:99027"} ! partial trisomy of the long arm of chromosome 5 is_a: MONDO:0019046 {source="DOID:0060785", source="Orphanet:99027", source="https://rarediseases.org/rare-diseases/leukodystrophy/", source="linkedlifedata"} ! leukodystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy @@ -149870,9 +149840,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2839"} synonym: "Kosenow syndrome" EXACT [OMIM:169550, Orphanet:2839] synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550] synonym: "Scapuloiliac dysostosis" EXACT [OMIM:169550, Orphanet:2839] -xref: ICD10CM:Q87.5 {source="ORDO:2839/attributed", source="ORDO:2839/ntbt", source="Orphanet:2839"} +xref: ICD10CM:Q87.5 {source="Orphanet:2839/attributed", source="Orphanet:2839/ntbt", source="Orphanet:2839"} xref: MESH:C566811 {source="MONDO:equivalentTo"} -xref: OMIM:169550 {source="MONDO:equivalentTo", source="ORDO:2839/e", source="Orphanet:2839"} +xref: OMIM:169550 {source="Orphanet:2839/e", source="MONDO:equivalentTo", source="Orphanet:2839"} xref: Orphanet:2839 {source="OMIM:169550", source="MONDO:equivalentTo"} xref: SCTID:719298001 {source="MONDO:equivalentTo"} xref: UMLS:C1868508 {source="OMIM:169550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2839"} @@ -149897,10 +149867,10 @@ synonym: "Hailey-Hailey disease" EXACT [OMIM:169600, Orphanet:2841] synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600] xref: DOID:0050429 {source="MONDO:equivalentTo"} xref: GARD:0006559 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:2841", source="ORDO:2841/ntbt", source="DOID:0050429", source="ORDO:2841/inclusion"} +xref: ICD10CM:Q82.8 {source="Orphanet:2841/ntbt", source="Orphanet:2841/inclusion", source="Orphanet:2841", source="DOID:0050429"} xref: MESH:D016506 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: NCIT:C82865 {source="MONDO:equivalentTo", source="DOID:0050429"} -xref: OMIM:169600 {source="Orphanet:2841", source="ORDO:2841/e", source="MONDO:equivalentTo", source="DOID:0050429"} +xref: OMIM:169600 {source="Orphanet:2841", source="MONDO:equivalentTo", source="DOID:0050429", source="Orphanet:2841/e"} xref: Orphanet:2841 {source="MONDO:equivalentTo", source="OMIM:169600"} xref: SCTID:79468000 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: UMLS:C0085106 {source="NCIT:C82865", source="Orphanet:2841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:169600", source="DOID:0050429"} @@ -149924,14 +149894,14 @@ xref: DOID:0060851 {source="MONDO:equivalentTo"} xref: EFO:0004719 {source="MONDO:equivalentTo"} xref: GARD:0004270 {source="MONDO:equivalentTo"} xref: GARD:0007355 {source="shared-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:L10.0 {source="DOID:0060851", source="ORDO:704/e", source="MONDO:equivalentTo", source="Orphanet:704"} -xref: MedDRA:10052802 {source="ORDO:704/e", source="Orphanet:704"} +xref: ICD10CM:L10.0 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="Orphanet:704/e"} +xref: MedDRA:10052802 {source="Orphanet:704", source="Orphanet:704/e"} xref: MESH:C536645 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C34910 {source="MONDO:equivalentTo", source="EFO:0004719"} -xref: OMIM:169610 {source="DOID:0060851", source="MONDO:equivalentTo", source="ORDO:704/btnt", source="Orphanet:704", source="GARD:0004270"} +xref: OMIM:169610 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="GARD:0004270", source="Orphanet:704/btnt"} xref: Orphanet:704 {source="DOID:0060851", source="MONDO:equivalentTo", source="GARD:0004270", source="OMIM:169610"} xref: SCTID:49420001 {source="MONDO:equivalentTo", source="EFO:0004719"} -xref: UMLS:C0030809 {source="DOID:0060851", source="ORDO:704/e", source="MONDO:equivalentTo", source="Orphanet:704", source="NCIT:C34910"} +xref: UMLS:C0030809 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="NCIT:C34910", source="Orphanet:704/e"} xref: UMLS:C1868502 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0004270", source="OMIM:169610"} is_a: MONDO:0006594 {source="DOID:0060851", source="EFO:0004719", source="ICD10CM:L10.0", source="NCIT:C34910", source="linkedlifedata", source="linkedlifedata/inferred"} ! pemphigus property_value: confidence "0.773399014778325" xsd:double @@ -149960,14 +149930,14 @@ synonym: "Peptidase deficiency" RELATED [GARD:0007473] synonym: "prolidase deficiency" EXACT CLINGEN_PREFERRED [OMIM:170100] xref: DOID:0111540 {source="MONDO:equivalentTo"} xref: GARD:0007473 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:742", source="ORDO:742/attributed", source="ORDO:742/ntbt"} -xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="ORDO:742/e"} +xref: ICD10CM:E72.8 {source="Orphanet:742", source="Orphanet:742/attributed", source="Orphanet:742/ntbt"} +xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"} xref: NCIT:C85029 {source="MONDO:equivalentTo"} -xref: OMIM:170100 {source="Orphanet:742", source="MONDO:equivalentTo", source="ORDO:742/e"} +xref: OMIM:170100 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"} xref: Orphanet:742 {source="MONDO:equivalentTo", source="OMIM:170100"} xref: SCTID:410055005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268532 {source="Orphanet:742", source="NCIT:C85029", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170100", source="ORDO:742/e"} -xref: UMLS:C1534653 {source="Orphanet:742", source="MONDO:notFoundInDiseaseSubset", source="ORDO:742/e"} +xref: UMLS:C0268532 {source="Orphanet:742", source="NCIT:C85029", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:742/e", source="OMIM:170100"} +xref: UMLS:C1534653 {source="Orphanet:742", source="Orphanet:742/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="Orphanet:742"} ! syndromic intellectual disability is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005093 ! skin disorder @@ -149997,11 +149967,11 @@ synonym: "Potassium-sensitive cardiodysrhythmic type" EXACT [DOID:0050434] synonym: "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" RELATED [GARD:0009453] xref: DOID:0050434 {source="MONDO:equivalentTo"} xref: GARD:0009453 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G72.3 {source="ORDO:37553/attributed", source="ORDO:37553/ntbt", source="Orphanet:37553"} +xref: ICD10CM:G72.3 {source="Orphanet:37553", source="Orphanet:37553/attributed", source="Orphanet:37553/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D050030 {source="DOID:0050434", source="MONDO:equivalentTo"} xref: NCIT:C84559 {source="DOID:0050434", source="MONDO:equivalentTo"} -xref: OMIM:170390 {source="DOID:0050434", source="MONDO:equivalentTo", source="ORDO:37553/e", source="Orphanet:37553"} +xref: OMIM:170390 {source="Orphanet:37553/e", source="DOID:0050434", source="MONDO:equivalentTo", source="Orphanet:37553"} xref: Orphanet:37553 {source="DOID:0050434", source="MONDO:equivalentTo", source="OMIM:170390"} xref: SCTID:422348008 {source="DOID:0050434", source="MONDO:equivalentTo"} xref: UMLS:C1563715 {source="NCIT:C84559", source="DOID:0050434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:170390", source="Orphanet:37553"} @@ -150034,17 +150004,17 @@ synonym: "periodic paralysis I" NARROW [DOID:14452] synonym: "Westphall disease" EXACT [Orphanet:681] xref: DOID:14452 {source="MONDO:equivalentTo"} xref: GARD:0006729 {source="MONDO:equivalentTo"} -xref: ICD10CM:G72.3 {source="ORDO:681/ntbt", source="DOID:14452", source="Orphanet:681", source="ORDO:681/inclusion"} -xref: MESH:D020514 {source="MONDO:equivalentTo", source="DOID:14452", source="ORDO:681/e", source="Orphanet:681"} +xref: ICD10CM:G72.3 {source="DOID:14452", source="Orphanet:681/inclusion", source="Orphanet:681", source="Orphanet:681/ntbt"} +xref: MESH:D020514 {source="Orphanet:681/e", source="MONDO:equivalentTo", source="DOID:14452", source="Orphanet:681"} xref: NCIT:C84775 {source="MONDO:equivalentTo", source="DOID:14452"} -xref: OMIM:170400 {source="MONDO:superClassOf", source="DOID:14452", source="ORDO:681/e", source="Orphanet:681"} -xref: OMIM:613345 {source="ORDO:681/btnt", source="MONDO:superClassOf", source="DOID:14452", source="Orphanet:681"} +xref: OMIM:170400 {source="Orphanet:681/e", source="MONDO:superClassOf", source="DOID:14452", source="Orphanet:681"} +xref: OMIM:613345 {source="MONDO:superClassOf", source="DOID:14452", source="Orphanet:681", source="Orphanet:681/btnt"} xref: Orphanet:681 {source="MONDO:equivalentTo"} xref: SCTID:193241004 {source="DOID:14452"} xref: SCTID:240093008 {source="DOID:14452"} xref: SCTID:82732003 {source="MONDO:equivalentTo", source="DOID:14452"} xref: UMLS:C0238357 {source="MONDO:superClassOf", source="Orphanet:681"} -xref: UMLS:C0238358 {source="MONDO:equivalentTo", source="DOID:14452", source="ORDO:681/e", source="Orphanet:681", source="NCIT:C84775"} +xref: UMLS:C0238358 {source="Orphanet:681/e", source="MONDO:equivalentTo", source="DOID:14452", source="Orphanet:681", source="NCIT:C84775"} is_a: MONDO:0000995 {source="DOID:14452", source="MESH:D020514", source="Orphanet:681", source="linkedlifedata"} ! familial periodic paralysis is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:681", source="indirect"} ! periodic paralysis intersection_of: MONDO:0000995 ! familial periodic paralysis @@ -150077,18 +150047,18 @@ synonym: "primary hyperPP" EXACT [Orphanet:682] synonym: "sodium channel muscle disease" RELATED [GARD:0000195] xref: DOID:14451 {source="MONDO:equivalentTo"} xref: GARD:0000195 {source="MONDO:equivalentTo"} -xref: ICD10CM:G72.3 {source="ORDO:682/inclusion", source="ORDO:682/ntbt", source="DOID:14451", source="Orphanet:682"} -xref: MESH:C535409 {source="ORDO:682/e", source="Orphanet:682"} -xref: MESH:D020513 {source="MONDO:equivalentTo", source="ORDO:682/e", source="DOID:14451", source="Orphanet:682"} +xref: ICD10CM:G72.3 {source="Orphanet:682/inclusion", source="Orphanet:682/ntbt", source="DOID:14451", source="Orphanet:682"} +xref: MESH:C535409 {source="Orphanet:682/e", source="Orphanet:682"} +xref: MESH:D020513 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682"} xref: NCIT:C123429 {source="MONDO:equivalentTo", source="DOID:14451"} -xref: OMIM:170500 {source="MONDO:equivalentTo", source="ORDO:682/e", source="DOID:14451", source="Orphanet:682", source="GARD:0000195"} +xref: OMIM:170500 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682", source="GARD:0000195"} xref: Orphanet:682 {source="OMIM:170500", source="MONDO:equivalentTo", source="GARD:0000195"} xref: SCTID:15973007 {source="DOID:14451"} xref: SCTID:278513006 {source="DOID:14451"} xref: SCTID:304737009 {source="MONDO:equivalentTo", source="DOID:14451"} -xref: UMLS:C0238357 {source="NCIT:C123429", source="OMIM:170500", source="MONDO:equivalentTo", source="ORDO:682/e", source="DOID:14451", source="Orphanet:682"} +xref: UMLS:C0238357 {source="NCIT:C123429", source="OMIM:170500", source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682"} xref: UMLS:C1868433 {source="OMIM:170500", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2930895 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:682/e", source="Orphanet:682"} +xref: UMLS:C2930895 {source="Orphanet:682/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:682"} xref: UMLS:CN074266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000995 ! familial periodic paralysis intersection_of: MONDO:0000995 ! familial periodic paralysis @@ -150150,8 +150120,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1795"} synonym: "dysostosis peripheral" RELATED [GARD:0002015] synonym: "peripheral dysostosis" EXACT [OMIM:170700] xref: GARD:0002015 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:1795", source="ORDO:1795/attributed", source="ORDO:1795/ntbt"} -xref: OMIM:170700 {source="ORDO:1795/e", source="Orphanet:1795", source="MONDO:equivalentTo"} +xref: ICD10CM:Q74.8 {source="Orphanet:1795/attributed", source="Orphanet:1795/ntbt", source="Orphanet:1795"} +xref: OMIM:170700 {source="Orphanet:1795", source="MONDO:equivalentTo", source="Orphanet:1795/e"} xref: Orphanet:1795 {source="OMIM:170700", source="MONDO:equivalentTo"} xref: UMLS:C0220659 {source="OMIM:170700", source="MONDO:directSiblingOf"} xref: UMLS:CN074256 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -150259,7 +150229,7 @@ xref: Orphanet:29072 {source="MONDO:subClassOf", source="OMIM:171300"} xref: UMLS:C0031511 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:171300"} xref: UMLS:C3149711 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:171300"} is_a: MONDO:0005165 {source="DOID:0050771", source="DOID:0050771/inferred", source="MONDO:Redundant"} ! benign neoplasm -is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma property_value: confidence "2.951520488633734" xsd:double [Term] @@ -150293,17 +150263,17 @@ synonym: "Sipple syndrome" EXACT [DOID:0050430, OMIM:171400, Orphanet:247698] synonym: "thyroid carcinoma, familial medullary" RELATED [OMIM:171400] xref: DOID:0050430 {source="MONDO:equivalentTo"} xref: GARD:0004881 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:247698", source="ORDO:247698/attributed", source="ORDO:247698/ntbt"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:247698/attributed", source="Orphanet:247698/ntbt", source="Orphanet:247698"} xref: ICD10CM:E31.22 {source="DOID:0050430"} xref: ICD9:258.02 {source="DOID:0050430", source="MONDO:subClassOf"} -xref: MESH:D018813 {source="DOID:0050430", source="ORDO:247698/e", source="Orphanet:247698", source="MONDO:equivalentTo"} +xref: MESH:D018813 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"} xref: NCIT:C3226 {source="DOID:0050430", source="MONDO:equivalentTo"} -xref: OMIM:171400 {source="DOID:0050430", source="ORDO:247698/e", source="Orphanet:247698", source="MONDO:equivalentTo"} +xref: OMIM:171400 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"} xref: Orphanet:247698 {source="DOID:0050430", source="OMIM:171400", source="MONDO:equivalentTo"} xref: Orphanet:653 {source="MONDO:subClassOf", source="OMIM:171400"} xref: SCTID:61808009 {source="DOID:0050430", source="MONDO:subClassOf"} xref: SCTID:721188000 {source="MONDO:equivalentTo"} -xref: UMLS:C0025268 {source="DOID:0050430", source="ORDO:247698/e", source="OMIM:171400", source="Orphanet:247698", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3226"} +xref: UMLS:C0025268 {source="DOID:0050430", source="OMIM:171400", source="Orphanet:247698", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:247698/e", source="NCIT:C3226"} xref: UMLS:C1833921 {source="OMIM:171400", source="MONDO:directSiblingOf"} is_a: MONDO:0000426 {source="DOID:0050430", source="indirect"} ! autosomal dominant disease is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3226/inferred", source="OMIM:171400", source="Orphanet:247698/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! multiple endocrine neoplasia @@ -150349,11 +150319,11 @@ synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [Orphanet:2878] synonym: "Stoll-levy-Francfort syndrome" RELATED [GARD:0004323] synonym: "Stoll-Lévy-Francfort syndrome" EXACT [Orphanet:2878] xref: GARD:0004323 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2878/attributed", source="ORDO:2878/ntbt", source="Orphanet:2878"} +xref: ICD10CM:Q87.2 {source="Orphanet:2878", source="Orphanet:2878/attributed", source="Orphanet:2878/ntbt"} xref: MESH:C537498 {source="MONDO:equivalentTo"} -xref: OMIM:171480 {source="MONDO:equivalentTo", source="Orphanet:2878", source="ORDO:2878/e"} +xref: OMIM:171480 {source="MONDO:equivalentTo", source="Orphanet:2878", source="Orphanet:2878/e"} xref: Orphanet:2878 {source="MONDO:equivalentTo", source="OMIM:171480"} -xref: UMLS:C1868390 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2878", source="OMIM:171480", source="ORDO:2878/e"} +xref: UMLS:C1868390 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2878", source="OMIM:171480", source="Orphanet:2878/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -150442,7 +150412,7 @@ xref: SCTID:154998003 {source="DOID:11870"} xref: SCTID:267688001 {source="DOID:11870"} xref: UMLS:C0236642 {source="NCIT:C85008", source="OMIM:172700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:11870"} is_a: MONDO:0005559 {source="DOID:11870", source="EFO:0003096/inferred", source="MESH:D020774/inferred", source="MONDO:Redundant", source="NCIT:C85008", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease -is_a: MONDO:0017276 {source="MESH:D020774", source="ORDO:282/btnt"} ! frontotemporal dementia +is_a: MONDO:0017276 {source="MESH:D020774", source="Orphanet:282/btnt"} ! frontotemporal dementia is_a: MONDO:0024238 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral degeneration relationship: disease_has_location UBERON:0001870 {source="EFO:0000784"} ! frontal cortex relationship: disease_has_location UBERON:0001871 {source="EFO:0000784"} ! temporal lobe @@ -150460,15 +150430,15 @@ synonym: "piebald trait" EXACT [DOID:3263, MONDO:Lexical, OMIM:172800] synonym: "piebaldism" EXACT [OMIM:172800] xref: DOID:3263 {source="MONDO:equivalentTo"} xref: GARD:0004344 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="ORDO:2884/index", source="MONDO:relatedTo", source="Orphanet:2884", source="ORDO:2884/ntbt"} +xref: ICD10CM:E70.3 {source="Orphanet:2884/ntbt", source="MONDO:relatedTo", source="Orphanet:2884", source="Orphanet:2884/index"} xref: ICD10CM:E70.39 {source="DOID:3263"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D016116 {source="ORDO:2884/e", source="Orphanet:2884", source="MONDO:equivalentTo", source="DOID:3263"} +xref: MESH:D016116 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"} xref: NCIT:C85009 {source="MONDO:equivalentTo", source="DOID:3263"} -xref: OMIM:172800 {source="ORDO:2884/e", source="Orphanet:2884", source="MONDO:equivalentTo", source="DOID:3263"} +xref: OMIM:172800 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"} xref: Orphanet:2884 {source="OMIM:172800", source="MONDO:equivalentTo"} xref: SCTID:6479008 {source="MONDO:equivalentTo", source="DOID:3263"} -xref: UMLS:C0080024 {source="OMIM:172800", source="ORDO:2884/e", source="NCIT:C85009", source="NCBI:mim2gene_medline", source="Orphanet:2884", source="MONDO:equivalentTo", source="DOID:3263"} +xref: UMLS:C0080024 {source="OMIM:172800", source="NCIT:C85009", source="NCBI:mim2gene_medline", source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"} is_a: MONDO:0000426 {source="DOID:3263", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0019290 {source="MESH:D016116/inferred", source="Orphanet:2884"} ! hypopigmentation of the skin @@ -150494,7 +150464,7 @@ synonym: "telfer-Sugar-Jaeger syndrome" EXACT [Orphanet:2885] synonym: "White forelock and leukoderma with neurological impairment" RELATED [GARD:0005133] xref: GARD:0005133 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C536955 {source="MONDO:equivalentTo"} -xref: OMIM:172850 {source="Orphanet:2885", source="ORDO:2885/e", source="MONDO:equivalentTo"} +xref: OMIM:172850 {source="Orphanet:2885", source="MONDO:equivalentTo", source="Orphanet:2885/e"} xref: Orphanet:2885 {source="MONDO:equivalentTo", source="OMIM:172850"} xref: UMLS:C1868311 {source="Orphanet:2885", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:172850"} is_a: MONDO:0019290 {source="MESH:C536955/inferred", source="Orphanet:2885"} ! hypopigmentation of the skin @@ -150509,9 +150479,9 @@ synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical, OM synonym: "PPCRA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172870] synonym: "PPRCA" EXACT ABBREVIATION [Orphanet:251295] xref: DOID:0111541 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="Orphanet:251295", source="ORDO:251295/attributed", source="ORDO:251295/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:H35.5 {source="Orphanet:251295/attributed", source="Orphanet:251295/ntbt", source="Orphanet:251295", source="MONDO:directSiblingOf"} xref: MESH:C566801 {source="MONDO:equivalentTo"} -xref: OMIM:172870 {source="ORDO:251295/e", source="Orphanet:251295", source="MONDO:equivalentTo"} +xref: OMIM:172870 {source="Orphanet:251295", source="MONDO:equivalentTo", source="Orphanet:251295/e"} xref: Orphanet:251295 {source="MONDO:equivalentTo", source="OMIM:172870"} xref: SCTID:723450004 {source="MONDO:equivalentTo"} xref: UMLS:C1868310 {source="Orphanet:251295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:172870"} @@ -150528,11 +150498,11 @@ synonym: "Pierre Robin sequence-oligodactyly syndrome" EXACT [Orphanet:3104] synonym: "Pierre Robin syndrome and oligodactyly" RELATED [OMIM:172880] synonym: "Robin sequence and oligodactyly" RELATED [OMIM:172880] xref: GARD:0004729 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:3104", source="ORDO:3104/attributed", source="ORDO:3104/ntbt"} -xref: MESH:C535688 {source="ORDO:3104/e", source="Orphanet:3104", source="MONDO:equivalentTo"} -xref: OMIM:172880 {source="ORDO:3104/e", source="Orphanet:3104", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:3104/attributed", source="Orphanet:3104/ntbt", source="Orphanet:3104"} +xref: MESH:C535688 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"} +xref: OMIM:172880 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"} xref: Orphanet:3104 {source="MONDO:equivalentTo", source="OMIM:172880"} -xref: UMLS:C1868309 {source="ORDO:3104/e", source="NCBI:mim2gene_medline", source="Orphanet:3104", source="MONDO:equivalentTo", source="OMIM:172880"} +xref: UMLS:C1868309 {source="NCBI:mim2gene_medline", source="Orphanet:3104", source="MONDO:equivalentTo", source="OMIM:172880", source="Orphanet:3104/e"} is_a: MONDO:0015335 {source="Orphanet:3104"} ! orofacial clefting syndrome relationship: disease_has_feature HP:0000201 ! Pierre-Robin sequence property_value: confidence "8.6" xsd:double @@ -150592,9 +150562,9 @@ synonym: "pituitary dwarfism due to isolated growth hormone deficiency autosomal synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [OMIM:173100] xref: DOID:0060872 {source="MONDO:equivalentTo"} xref: GARD:0001696 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="ORDO:231679/attributed", source="ORDO:231679/ntbt", source="DOID:0060872", source="Orphanet:231679"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="DOID:0060872", source="Orphanet:231679/attributed", source="Orphanet:231679/ntbt", source="Orphanet:231679"} xref: MESH:C562704 {source="MONDO:equivalentTo"} -xref: OMIM:173100 {source="DOID:0060872", source="MONDO:equivalentTo", source="ORDO:231679/e", source="Orphanet:231679"} +xref: OMIM:173100 {source="Orphanet:231679/e", source="DOID:0060872", source="MONDO:equivalentTo", source="Orphanet:231679"} xref: Orphanet:231679 {source="DOID:0060872", source="MONDO:equivalentTo", source="OMIM:173100"} xref: Orphanet:631 {source="MONDO:subClassOf", source="OMIM:173100"} xref: SCTID:237687003 {source="MONDO:equivalentTo"} @@ -150616,16 +150586,16 @@ synonym: "pityriasis rubra pilaris--familial type" EXACT [MESH:C531784] synonym: "PRP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:173200] xref: DOID:9212 {source="MONDO:subClassOf"} xref: GARD:0007401 {source="MONDO:subClassOf"} -xref: ICD10CM:L44.0 {source="MONDO:subClassOf", source="ORDO:2897/specific", source="ORDO:2897/e", source="Orphanet:2897", source="DOID:9212"} +xref: ICD10CM:L44.0 {source="MONDO:subClassOf", source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} xref: ICD9:696.4 {source="MONDO:subClassOf", source="i2s", source="DOID:9212"} -xref: MedDRA:10035116 {source="ORDO:2897/e", source="Orphanet:2897"} +xref: MedDRA:10035116 {source="Orphanet:2897", source="Orphanet:2897/e"} xref: MESH:C531784 {source="MONDO:equivalentTo"} -xref: MESH:D010916 {source="MONDO:subClassOf", source="ORDO:2897/e", source="Orphanet:2897", source="DOID:9212"} +xref: MESH:D010916 {source="MONDO:subClassOf", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"} xref: NCIT:C85014 {source="MONDO:subClassOf", source="DOID:9212"} -xref: OMIM:173200 {source="ORDO:2897/e", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212"} +xref: OMIM:173200 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"} xref: Orphanet:2897 {source="MONDO:equivalentTo", source="OMIM:173200"} xref: SCTID:3755001 {source="MONDO:subClassOf", source="DOID:9212"} -xref: UMLS:C0032027 {source="MONDO:subClassOf", source="ORDO:2897/e", source="NCBI:mim2gene_medline", source="Orphanet:2897", source="DOID:9212", source="NCIT:C85014", source="OMIM:173200"} +xref: UMLS:C0032027 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="Orphanet:2897", source="DOID:9212", source="NCIT:C85014", source="OMIM:173200", source="Orphanet:2897/e"} xref: UMLS:C2930842 {source="MONDO:equivalentTo"} is_a: MONDO:0100017 {source="GARD:0007401"} ! pityriasis rubra pilaris intersection_of: MONDO:0100017 ! pityriasis rubra pilaris @@ -150710,9 +150680,9 @@ synonym: "Psp" RELATED [OMIM:173600] synonym: "spontaneous pneumothorax" RELATED [GARD:0004997] xref: DOID:0080218 {source="MONDO:equivalentTo"} xref: GARD:0004997 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:J93.1 {source="ORDO:2903/attributed", source="ORDO:2903/ntbt", source="Orphanet:2903"} +xref: ICD10CM:J93.1 {source="Orphanet:2903/attributed", source="Orphanet:2903/ntbt", source="Orphanet:2903"} xref: MESH:C566795 {source="MONDO:equivalentTo"} -xref: OMIM:173600 {source="MONDO:equivalentTo", source="ORDO:2903/e", source="DOID:0080218", source="Orphanet:2903"} +xref: OMIM:173600 {source="Orphanet:2903/e", source="MONDO:equivalentTo", source="DOID:0080218", source="Orphanet:2903"} xref: Orphanet:2903 {source="OMIM:173600", source="MONDO:equivalentTo"} xref: SCTID:715219001 {source="MONDO:equivalentTo"} xref: UMLS:C1868193 {source="OMIM:173600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -150740,13 +150710,13 @@ synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [OMIM:17365 synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650] xref: DOID:0060472 {source="MONDO:equivalentTo"} xref: GARD:0004391 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q81.8 {source="Orphanet:2908", source="ORDO:2908/attributed", source="ORDO:2908/ntbt"} -xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="ORDO:2908/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q81.8 {source="Orphanet:2908", source="Orphanet:2908/attributed", source="Orphanet:2908/ntbt"} +xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="MONDO:equivalentTo", source="Orphanet:2908/e"} xref: OMIM:173650 {source="MONDO:equivalentTo"} xref: Orphanet:2908 {source="MONDO:equivalentTo"} xref: SCTID:238836000 {source="MONDO:equivalentTo"} xref: UMLS:C0406556 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:173650"} -xref: UMLS:C0406557 {source="Orphanet:2908", source="ORDO:2908/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:173650"} +xref: UMLS:C0406557 {source="Orphanet:2908", source="NCBI:mim2gene_medline", source="Orphanet:2908/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:173650"} is_a: MONDO:0019276 {source="Orphanet:2908"} ! inherited epidermolysis bullosa relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15889 {source="mim2gene_medgen"} ! FERMT1 property_value: confidence "0.4586894586894583" xsd:double @@ -150756,12 +150726,12 @@ id: MONDO:0008261 name: hereditary sclerosing poikiloderma, Weary type subset: ordo_disease {source="Orphanet:221039"} synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700] -xref: ICD10CM:Q82.8 {source="ORDO:221039/attributed", source="ORDO:221039/ntbt", source="Orphanet:221039"} +xref: ICD10CM:Q82.8 {source="Orphanet:221039", source="Orphanet:221039/attributed", source="Orphanet:221039/ntbt"} xref: MESH:C562824 {source="MONDO:equivalentTo"} -xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="ORDO:221039/e"} +xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="Orphanet:221039/e"} xref: Orphanet:221039 {source="OMIM:173700", source="MONDO:equivalentTo"} xref: UMLS:C0343094 {source="OMIM:173700", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1275083 {source="Orphanet:221039", source="MONDO:notFoundInDiseaseSubset", source="ORDO:221039/e"} +xref: UMLS:C1275083 {source="Orphanet:221039", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221039/e"} is_a: MONDO:0016382 {source="Orphanet:221039"} ! hereditary poikiloderma property_value: confidence "2.692307692307692" xsd:double @@ -150781,16 +150751,16 @@ synonym: "Poland's syndrome" RELATED [GARD:0007412] synonym: "unilateral defect of pectoralis muscle and syndactyly of the hand" RELATED [GARD:0007412] xref: DOID:12961 {source="MONDO:equivalentTo"} xref: GARD:0007412 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.8 {source="ORDO:2911/ntbt", source="Orphanet:2911", source="ORDO:2911/inclusion", source="DOID:12961"} +xref: ICD10CM:Q79.8 {source="Orphanet:2911/inclusion", source="Orphanet:2911", source="Orphanet:2911/ntbt", source="DOID:12961"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036007 {source="Orphanet:2911", source="ORDO:2911/e"} -xref: MESH:D011045 {source="MONDO:equivalentTo", source="Orphanet:2911", source="ORDO:2911/e", source="DOID:12961"} +xref: MedDRA:10036007 {source="Orphanet:2911", source="Orphanet:2911/e"} +xref: MESH:D011045 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"} xref: NCIT:C85017 {source="MONDO:equivalentTo", source="DOID:12961"} -xref: OMIM:173800 {source="MONDO:equivalentTo", source="Orphanet:2911", source="ORDO:2911/e", source="DOID:12961"} +xref: OMIM:173800 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"} xref: Orphanet:2911 {source="OMIM:173800", source="MONDO:equivalentTo"} xref: SCTID:205524002 {source="DOID:12961"} xref: SCTID:38371006 {source="MONDO:equivalentTo", source="DOID:12961"} -xref: UMLS:C0032357 {source="OMIM:173800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2911", source="ORDO:2911/e", source="NCIT:C85017", source="DOID:12961"} +xref: UMLS:C0032357 {source="OMIM:173800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2911", source="NCIT:C85017", source="Orphanet:2911/e", source="DOID:12961"} xref: UMLS:C1868156 {source="OMIM:173800", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85017", source="indirect"} ! syndromic disease is_a: MONDO:0015856 {source="Orphanet:2911"} ! syndromic breast hypoplasia/aplasia @@ -150847,13 +150817,13 @@ synonym: "medullary cystic kidney disease" RELATED [GARD:0010801] synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] xref: EFO:0008617 {source="MONDO:equivalentTo"} xref: GARD:0010801 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q61.5 {source="Orphanet:34149", source="ORDO:34149/specific", source="ORDO:34149/e"} +xref: ICD10CM:Q61.5 {source="Orphanet:34149", source="Orphanet:34149/e", source="Orphanet:34149/specific"} xref: MEDGEN:358137 {source="UMLS:C1868139", source="MONDO:equivalentTo"} xref: MEDGEN:881357 {source="MONDO:equivalentTo", source="UMLS:C4054549"} xref: MESH:C536137 {source="MONDO:equivalentTo"} -xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:superClassOf", source="GARD:0010801", source="ORDO:34149/e"} -xref: OMIM:603860 {source="Orphanet:34149", source="MONDO:superClassOf", source="GARD:0010801", source="ORDO:34149/btnt"} -xref: OMIM:609886 {source="Orphanet:34149", source="MONDO:superClassOf", source="ORDO:34149/btnt"} +xref: OMIM:174000 {source="Orphanet:34149", source="Orphanet:34149/e", source="MONDO:superClassOf", source="GARD:0010801"} +xref: OMIM:603860 {source="Orphanet:34149", source="Orphanet:34149/btnt", source="MONDO:superClassOf", source="GARD:0010801"} +xref: OMIM:609886 {source="Orphanet:34149", source="Orphanet:34149/btnt", source="MONDO:superClassOf"} xref: Orphanet:34149 {source="MONDO:equivalentTo", source="OMIM:174000", source="GARD:0010801"} xref: SCTID:444699000 {source="MONDO:equivalentTo"} xref: UMLS:C4054549 {source="NCIT:C123171", source="MONDO:equivalentTo"} @@ -150883,14 +150853,14 @@ synonym: "PCLD1" EXACT ABBREVIATION [OMIM:174050] synonym: "polycystic liver disease" RELATED [MONDO:Lexical, OMIM:174050] synonym: "polycystic liver disease 1" EXACT CLINGEN_PREFERRED [] synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [OMIM:174050] -xref: ICD10CM:Q44.6 {source="MONDO:subClassOf", source="ORDO:2924/specific", source="Orphanet:2924", source="ORDO:2924/e"} -xref: MedDRA:10010427 {source="MONDO:subClassOf", source="Orphanet:2924", source="ORDO:2924/e"} -xref: MedDRA:10048834 {source="MONDO:subClassOf", source="Orphanet:2924", source="ORDO:2924/e"} -xref: OMIM:174050 {source="MONDO:equivalentTo", source="Orphanet:2924", source="ORDO:2924/e"} -xref: OMIM:617004 {source="ORDO:2924/btnt", source="Orphanet:2924", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q44.6 {source="MONDO:subClassOf", source="Orphanet:2924/e", source="Orphanet:2924/specific", source="Orphanet:2924"} +xref: MedDRA:10010427 {source="MONDO:subClassOf", source="Orphanet:2924/e", source="Orphanet:2924"} +xref: MedDRA:10048834 {source="MONDO:subClassOf", source="Orphanet:2924/e", source="Orphanet:2924"} +xref: OMIM:174050 {source="Orphanet:2924/e", source="MONDO:equivalentTo", source="Orphanet:2924"} +xref: OMIM:617004 {source="Orphanet:2924", source="Orphanet:2924/btnt", source="MONDO:directSiblingOf"} xref: Orphanet:2924 {source="MONDO:subClassOf", source="OMIM:174050"} xref: SCTID:716196007 {source="MONDO:equivalentTo"} -xref: UMLS:C0158683 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:174050", source="Orphanet:2924", source="ORDO:2924/e"} +xref: UMLS:C0158683 {source="MONDO:subClassOf", source="Orphanet:2924/e", source="NCBI:mim2gene_medline", source="OMIM:174050", source="Orphanet:2924"} xref: UMLS:C4255088 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000447 {source="DC-OMIM:174050", source="MONDO:Redundant", source="OMIM:174050"} ! autosomal dominant polycystic liver disease is_a: MONDO:0015509 {source="Orphanet:2924"} ! genetic biliary tract disease @@ -150914,7 +150884,7 @@ xref: Orphanet:93334 {source="MONDO:subClassOf", source="OMIM:174200"} xref: Orphanet:93335 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:174200"} xref: UMLS:C0220697 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:174200"} xref: UMLS:C1868120 {source="MONDO:relatedTo", source="OMIM:174200"} -is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A +is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4319 {source="mim2gene_medgen"} ! GLI3 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.7021276595744683" xsd:double @@ -150945,12 +150915,12 @@ synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:00 synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919] xref: DOID:0060375 {source="MONDO:equivalentTo"} xref: GARD:0004120 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2919", source="ORDO:2919/attributed", source="ORDO:2919/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2919", source="Orphanet:2919/attributed", source="Orphanet:2919/ntbt"} xref: MESH:C557819 {source="DOID:0060375", source="MONDO:equivalentTo"} -xref: OMIM:174300 {source="Orphanet:2919", source="ORDO:2919/e", source="DOID:0060375", source="MONDO:equivalentTo"} +xref: OMIM:174300 {source="Orphanet:2919", source="DOID:0060375", source="MONDO:equivalentTo", source="Orphanet:2919/e"} xref: Orphanet:2919 {source="DOID:0060375", source="MONDO:equivalentTo", source="OMIM:174300"} xref: SCTID:722105002 {source="MONDO:equivalentTo"} -xref: UMLS:C1868118 {source="Orphanet:2919", source="ORDO:2919/e", source="DOID:0060375", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:174300"} +xref: UMLS:C1868118 {source="Orphanet:2919", source="DOID:0060375", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2919/e", source="OMIM:174300"} is_a: MONDO:0000508 {source="Orphanet:2919"} ! syndromic intellectual disability is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="Orphanet:2919", source="linkedlifedata"} ! orofaciodigital syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25360 {source="mim2gene_medgen"} ! DDX59 @@ -150973,10 +150943,10 @@ synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310] synonym: "postaxial polydactyly with progressive myopia" RELATED [GARD:0004413] synonym: "postaxial polydactyly-progressive myopia syndrome" RELATED [GARD:0004413] xref: GARD:0004413 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:2917/attributed", source="ORDO:2917/ntbt", source="Orphanet:2917"} +xref: ICD10CM:Q87.2 {source="Orphanet:2917/attributed", source="Orphanet:2917/ntbt", source="Orphanet:2917"} xref: ICD9:625.4 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:C536331 {source="MONDO:equivalentTo"} -xref: OMIM:174310 {source="MONDO:equivalentTo", source="Orphanet:2917", source="ORDO:2917/e"} +xref: OMIM:174310 {source="Orphanet:2917/e", source="MONDO:equivalentTo", source="Orphanet:2917"} xref: Orphanet:2917 {source="MONDO:equivalentTo", source="OMIM:174310"} xref: SCTID:82639001 {source="MONDO:equivalentTo"} xref: UMLS:C1868117 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:174310", source="Orphanet:2917"} @@ -151000,9 +150970,9 @@ synonym: "preaxial polydactyly type 1" EXACT [Orphanet:93339] synonym: "thenar hypoplasia" RELATED [OMIM:174400] synonym: "thumb polydactyly" RELATED [OMIM:174400] xref: GARD:0004417 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q69.1 {source="ORDO:93339/e", source="Orphanet:93339", source="ORDO:93339/specific"} +xref: ICD10CM:Q69.1 {source="Orphanet:93339/e", source="Orphanet:93339/specific", source="Orphanet:93339"} xref: MESH:C536332 {source="MONDO:equivalentTo"} -xref: OMIM:174400 {source="MONDO:equivalentTo", source="ORDO:93339/e", source="Orphanet:93339"} +xref: OMIM:174400 {source="Orphanet:93339/e", source="MONDO:equivalentTo", source="Orphanet:93339"} xref: Orphanet:93339 {source="MONDO:equivalentTo", source="OMIM:174400"} xref: SCTID:445216006 {source="MONDO:equivalentTo"} xref: UMLS:C1395852 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93339", source="OMIM:174400"} @@ -151030,8 +151000,8 @@ synonym: "triphalangeal thumb, type i" EXACT [OMIM:174500, OMIM:genemap2] synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500] synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500] xref: GARD:0005289 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q69.1 {source="ORDO:93336/attributed", source="ORDO:93336/ntbt", source="Orphanet:93336"} -xref: OMIM:174500 {source="MONDO:equivalentTo", source="ORDO:93336/ntbt", source="Orphanet:93336"} +xref: ICD10CM:Q69.1 {source="Orphanet:93336", source="Orphanet:93336/attributed", source="Orphanet:93336/ntbt"} +xref: OMIM:174500 {source="MONDO:equivalentTo", source="Orphanet:93336", source="Orphanet:93336/ntbt"} xref: Orphanet:2950 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:174500"} xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"} xref: SCTID:715710001 {source="MONDO:equivalentTo"} @@ -151054,9 +151024,9 @@ synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1, OMIM:174600] synonym: "PPD3" EXACT ABBREVIATION [Orphanet:93337] synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337] xref: GARD:0002256 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q69.0 {source="ORDO:93337/attributed", source="ORDO:93337/ntbt", source="Orphanet:93337"} +xref: ICD10CM:Q69.0 {source="Orphanet:93337", source="Orphanet:93337/attributed", source="Orphanet:93337/ntbt"} xref: MESH:C566784 {source="MONDO:equivalentTo"} -xref: OMIM:174600 {source="MONDO:equivalentTo", source="ORDO:93337/e", source="Orphanet:93337"} +xref: OMIM:174600 {source="MONDO:equivalentTo", source="Orphanet:93337", source="Orphanet:93337/e"} xref: Orphanet:93337 {source="MONDO:equivalentTo", source="OMIM:174600"} xref: SCTID:723446006 {source="MONDO:equivalentTo"} xref: UMLS:C1868113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93337", source="OMIM:174600"} @@ -151083,14 +151053,14 @@ synonym: "preaxial polydactyly 4" RELATED [GARD:0009903] synonym: "preaxial polydactyly type 4" EXACT [Orphanet:93338] xref: GARD:0001616 {source="MONDO:equivalentTo"} xref: GARD:0009903 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q70.4 {source="ORDO:93338/e", source="Orphanet:93338", source="ORDO:93338/specific"} +xref: ICD10CM:Q70.4 {source="Orphanet:93338/e", source="Orphanet:93338/specific", source="Orphanet:93338"} xref: ICD9:755.10 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063143 {source="ORDO:93338/e", source="Orphanet:93338"} +xref: MedDRA:10063143 {source="Orphanet:93338/e", source="Orphanet:93338"} xref: NCIT:C125597 {source="MONDO:subClassOf"} -xref: OMIM:174700 {source="MONDO:equivalentTo", source="ORDO:93338/e", source="Orphanet:93338"} +xref: OMIM:174700 {source="Orphanet:93338/e", source="MONDO:equivalentTo", source="Orphanet:93338"} xref: Orphanet:93338 {source="OMIM:174700", source="MONDO:equivalentTo"} xref: SCTID:84598000 {source="MONDO:subClassOf"} -xref: UMLS:C0265553 {source="MONDO:subClassOf", source="NCIT:C125597", source="ORDO:93338/e", source="Orphanet:93338"} +xref: UMLS:C0265553 {source="MONDO:subClassOf", source="Orphanet:93338/e", source="NCIT:C125597", source="Orphanet:93338"} xref: UMLS:C1868111 {source="OMIM:174700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93338"} xref: UMLS:C1868112 {source="OMIM:174700", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125597"} ! metabolic disease @@ -151113,8 +151083,8 @@ synonym: "Hutchinson summer prurigo" EXACT [Orphanet:330061] synonym: "hydroa aestivale" EXACT [Orphanet:330061] synonym: "juvenile Spring eruption of ears" RELATED [OMIM:174770] synonym: "polymorphic Light eruption, hereditary" RELATED [OMIM:174770] -xref: ICD10CM:L56.4 {source="Orphanet:330061", source="ORDO:330061/ntbt"} -xref: OMIM:174770 {source="MONDO:equivalentTo", source="Orphanet:330061", source="ORDO:330061/e"} +xref: ICD10CM:L56.4 {source="Orphanet:330061/ntbt", source="Orphanet:330061"} +xref: OMIM:174770 {source="Orphanet:330061/e", source="MONDO:equivalentTo", source="Orphanet:330061"} xref: Orphanet:330061 {source="MONDO:equivalentTo"} xref: SCTID:201015007 {source="MONDO:equivalentTo"} xref: UMLS:C0406217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:174770", source="Orphanet:330061"} @@ -151129,10 +151099,10 @@ def: "Fibrous dysplasia affecting more than one bone. When it is associated with subset: ordo_clinical_subtype {source="Orphanet:93276"} synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609] synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610] -xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="MONDO:equivalentTo", source="ORDO:93276/attributed", source="ORDO:93276/ntbt"} +xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="Orphanet:93276/attributed", source="Orphanet:93276/ntbt", source="MONDO:equivalentTo"} xref: ICD9:756.54 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10036120 {source="ORDO:93276/e", source="Orphanet:93276"} -xref: MESH:D005359 {source="ORDO:93276/e", source="Orphanet:93276", source="MONDO:cjm", source="MONDO:equivalentTo"} +xref: MedDRA:10036120 {source="Orphanet:93276", source="Orphanet:93276/e"} +xref: MESH:D005359 {source="Orphanet:93276", source="MONDO:cjm", source="MONDO:equivalentTo", source="Orphanet:93276/e"} xref: NCIT:C34610 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:93276 {source="MONDO:equivalentTo"} xref: SCTID:36517007 {source="MONDO:equivalentTo"} @@ -151155,13 +151125,13 @@ synonym: "osteolysis, familial expansile" RELATED [GARD:0009168] synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM:174810] xref: DOID:0111542 {source="MONDO:equivalentTo"} xref: GARD:0009168 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M89.5 {source="ORDO:85195/attributed", source="ORDO:85195/ntbt", source="Orphanet:85195"} +xref: ICD10CM:M89.5 {source="Orphanet:85195/attributed", source="Orphanet:85195/ntbt", source="Orphanet:85195"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536335 {source="MONDO:equivalentTo", source="ORDO:85195/e", source="Orphanet:85195"} -xref: OMIM:174810 {source="MONDO:equivalentTo", source="ORDO:85195/e", source="Orphanet:85195"} +xref: MESH:C536335 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} +xref: OMIM:174810 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} xref: Orphanet:85195 {source="OMIM:174810", source="MONDO:equivalentTo"} xref: SCTID:254153009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432292 {source="OMIM:174810", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:85195/e", source="Orphanet:85195"} +xref: UMLS:C0432292 {source="OMIM:174810", source="Orphanet:85195/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85195"} is_a: MONDO:0019707 {source="Orphanet:85195"} ! primary osteolysis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11908 {source="mim2gene_medgen"} ! TNFRSF11A property_value: confidence "4.277777777777778" xsd:double @@ -151180,8 +151150,8 @@ synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical, OMIM:174900] synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [OMIM:174900] synonym: "polyposis, juvenile intestinal" RELATED [OMIM:174900] xref: DOID:0050787 {source="MONDO:equivalentTo"} -xref: ICD10CM:D12.6 {source="ORDO:329971/attributed", source="ORDO:329971/ntbt", source="Orphanet:329971"} -xref: OMIM:174900 {source="MONDO:subClassOf", source="DOID:0050787", source="Orphanet:329971", source="ORDO:329971/e"} +xref: ICD10CM:D12.6 {source="Orphanet:329971", source="Orphanet:329971/attributed", source="Orphanet:329971/ntbt"} +xref: OMIM:174900 {source="MONDO:subClassOf", source="Orphanet:329971/e", source="DOID:0050787", source="Orphanet:329971"} xref: Orphanet:2929 {source="MONDO:subClassOf", source="OMIM:174900"} xref: Orphanet:329971 {source="OMIM:174900", source="MONDO:equivalentTo"} xref: UMLS:C0345893 {source="OMIM:174900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -151232,7 +151202,7 @@ is_a: MONDO:0015185 {source="https://orcid.org/0000-0001-5208-3432"} ! intestina is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome is_a: MONDO:0018188 {source="https://orcid.org/0000-0001-5208-3432"} ! genetic intestinal polyposis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6770 {source="mim2gene_medgen"} ! SMAD4 -relationship: excluded_subClassOf MONDO:0017380 {source="ORDO:2929/btnt"} ! juvenile polyposis syndrome +relationship: excluded_subClassOf MONDO:0017380 {source="Orphanet:2929/btnt"} ! juvenile polyposis syndrome property_value: confidence "2.1078421052631597" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3685 xsd:string @@ -151268,20 +151238,20 @@ synonym: "polyps and spots syndrome" EXACT [Orphanet:2869] synonym: "polyps-and-Spots syndrome" RELATED [OMIM:175200] xref: DOID:3852 {source="MONDO:equivalentTo"} xref: GARD:0007378 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.8 {source="ORDO:2869/inclusion", source="ORDO:2869/ntbt", source="DOID:3852", source="Orphanet:2869"} +xref: ICD10CM:Q85.8 {source="DOID:3852", source="Orphanet:2869/inclusion", source="Orphanet:2869", source="Orphanet:2869/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10034764 {source="Orphanet:2869", source="ORDO:2869/e"} -xref: MESH:D010580 {source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869", source="ORDO:2869/e"} +xref: MedDRA:10034764 {source="Orphanet:2869/e", source="Orphanet:2869"} +xref: MESH:D010580 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"} xref: NCIT:C3324 {source="DOID:3852", source="MONDO:equivalentTo"} xref: NCIT:C4733 {source="MONDO:relatedTo", source="DOID:3852"} xref: NCIT:C7755 {source="DOID:3852"} -xref: OMIM:175200 {source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869", source="ORDO:2869/e"} +xref: OMIM:175200 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"} xref: Orphanet:2869 {source="MONDO:equivalentTo", source="OMIM:175200"} xref: SCTID:157029009 {source="DOID:3852"} xref: SCTID:277161008 {source="DOID:3852"} xref: SCTID:53633000 {source="DOID:3852"} xref: SCTID:54411001 {source="DOID:3852", source="MONDO:equivalentTo"} -xref: UMLS:C0031269 {source="DOID:3852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2869", source="NCIT:C3324", source="OMIM:175200", source="ORDO:2869/e"} +xref: UMLS:C0031269 {source="Orphanet:2869/e", source="DOID:3852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2869", source="NCIT:C3324", source="OMIM:175200"} xref: UMLS:C0265323 {source="DOID:3852", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0456487 {source="DOID:3852", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1333088 {source="DOID:3852", source="MONDO:equivalentObsolete"} @@ -151334,14 +151304,14 @@ synonym: "polyposis skin pigmentation alopecia fingernail changes" RELATED [GARD synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [OMIM:175500] xref: DOID:6225 {source="MONDO:equivalentTo"} xref: GARD:0004427 {source="MONDO:equivalentTo"} -xref: ICD10CM:D12.6 {source="ORDO:2930/ntbt", source="Orphanet:2930"} -xref: MedDRA:10062907 {source="ORDO:2930/e", source="Orphanet:2930"} +xref: ICD10CM:D12.6 {source="Orphanet:2930", source="Orphanet:2930/ntbt"} +xref: MedDRA:10062907 {source="Orphanet:2930", source="Orphanet:2930/e"} xref: MESH:D044483 {source="MONDO:equivalentTo"} xref: NCIT:C7035 {source="DOID:6225", source="MONDO:equivalentTo"} -xref: OMIM:175500 {source="ORDO:2930/e", source="MONDO:equivalentTo", source="GARD:0004427", source="Orphanet:2930"} +xref: OMIM:175500 {source="MONDO:equivalentTo", source="GARD:0004427", source="Orphanet:2930", source="Orphanet:2930/e"} xref: Orphanet:2930 {source="MONDO:equivalentTo", source="GARD:0004427", source="OMIM:175500"} xref: SCTID:76304001 {source="MONDO:equivalentTo"} -xref: UMLS:C0282207 {source="ORDO:2930/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2930", source="OMIM:175500"} +xref: UMLS:C0282207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2930", source="OMIM:175500", source="Orphanet:2930/e"} xref: UMLS:C1333764 {source="NCIT:C7035", source="DOID:6225", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004335 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:2930/inferred"} ! digestive system disorder is_a: MONDO:0015185 {source="Orphanet:2930", source="linkedlifedata"} ! intestinal polyposis syndrome @@ -151381,9 +151351,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2935"} synonym: "crossed polydactyly" EXACT [Orphanet:2935] synonym: "polysyndactyly, crossed" RELATED [OMIM:175690] xref: GARD:0001617 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q70.4 {source="ORDO:2935/attributed", source="ORDO:2935/ntbt", source="Orphanet:2935"} +xref: ICD10CM:Q70.4 {source="Orphanet:2935", source="Orphanet:2935/attributed", source="Orphanet:2935/ntbt"} xref: MESH:C566773 {source="MONDO:equivalentTo"} -xref: OMIM:175690 {source="MONDO:equivalentTo", source="Orphanet:2935", source="ORDO:2935/e"} +xref: OMIM:175690 {source="Orphanet:2935/e", source="MONDO:equivalentTo", source="Orphanet:2935"} xref: Orphanet:2935 {source="OMIM:175690", source="MONDO:equivalentTo"} xref: UMLS:C1867999 {source="OMIM:175690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2935"} is_a: MONDO:0019054 {source="Orphanet:2935"} ! congenital limb malformation @@ -151405,14 +151375,14 @@ synonym: "polysyndactyly with peculiar skull Shape" RELATED [OMIM:175700] synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761] xref: DOID:14761 {source="MONDO:equivalentTo"} xref: GARD:0006550 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:380/attributed", source="ORDO:380/ntbt", source="Orphanet:380"} -xref: MedDRA:10053878 {source="ORDO:380/e", source="Orphanet:380"} -xref: MESH:C537300 {source="ORDO:380/e", source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761"} +xref: ICD10CM:Q87.0 {source="Orphanet:380", source="Orphanet:380/attributed", source="Orphanet:380/ntbt"} +xref: MedDRA:10053878 {source="Orphanet:380", source="Orphanet:380/e"} +xref: MESH:C537300 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"} xref: NCIT:C35255 {source="MONDO:equivalentTo", source="DOID:14761"} -xref: OMIM:175700 {source="ORDO:380/e", source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761"} +xref: OMIM:175700 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"} xref: Orphanet:380 {source="MONDO:equivalentTo", source="OMIM:175700"} xref: SCTID:32985001 {source="MONDO:equivalentTo", source="DOID:14761"} -xref: UMLS:C0265306 {source="NCBI:mim2gene_medline", source="ORDO:380/e", source="MONDO:equivalentTo", source="Orphanet:380", source="NCIT:C35255", source="DOID:14761", source="OMIM:175700"} +xref: UMLS:C0265306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:380", source="NCIT:C35255", source="DOID:14761", source="Orphanet:380/e", source="OMIM:175700"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35255", source="indirect"} ! syndromic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4319 {source="mim2gene_medgen"} ! GLI3 relationship: excluded_subClassOf MONDO:0019796 {source="DOID:14761"} ! acrocephalosyndactyly @@ -151461,21 +151431,21 @@ synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780] synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780, OMIM:607595] synonym: "T1P" EXACT ABBREVIATION [OMIM:175780] xref: DOID:0090125 {source="MONDO:equivalentTo"} -xref: ICD10CM:I67.3 {source="ORDO:36383/attributed", source="ORDO:36383/ntbt"} -xref: MESH:C531642 {source="ORDO:36383/e", source="MONDO:equivalentTo"} +xref: ICD10CM:I67.3 {source="Orphanet:36383/attributed", source="Orphanet:36383/ntbt"} +xref: MESH:C531642 {source="MONDO:equivalentTo", source="Orphanet:36383/e"} xref: MESH:C564372 {source="MEDIC", source="MONDO:equivalentTo"} xref: OMIM:175780 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:607595 {source="ORDO:36383/e", source="MONDO:equivalentTo", source="Orphanet:36383", source="DOID:0090125"} +xref: OMIM:607595 {source="MONDO:equivalentTo", source="Orphanet:36383", source="DOID:0090125", source="Orphanet:36383/e"} xref: Orphanet:2940 {source="MONDO:subClassOf", source="OMIM:175780"} xref: Orphanet:36383 {source="MONDO:equivalentTo", source="DOID:0090125", source="OMIM:607595"} xref: Orphanet:99810 {source="MONDO:subClassOf", source="OMIM:175780"} xref: UMLS:C1843512 {source="NCBI:mim2gene_medline", source="Orphanet:36383", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607595"} xref: UMLS:C1867983 {source="OMIM:175780", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2675650 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607595"} -xref: UMLS:C2930808 {source="ORDO:36383/e", source="Orphanet:36383", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2930808 {source="Orphanet:36383", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36383/e"} xref: UMLS:CN032791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017410 {source="MONDO:Redundant", source="OMIM:175780", source="indirect"} ! porencephaly -is_a: MONDO:0020496 {source="ORDO:99810/btnt"} ! familial porencephaly +is_a: MONDO:0020496 {source="Orphanet:99810/btnt"} ! familial porencephaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2202 {source="mim2gene_medgen"} ! COL4A1 relationship: excluded_subClassOf MONDO:0018790 {source="Orphanet:36383"} ! obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy property_value: confidence "2.5470085470085473" xsd:double @@ -151491,7 +151461,7 @@ xref: OMIM:175800 {source="MONDO:equivalentTo"} xref: Orphanet:735 {source="MONDO:subClassOf", source="OMIM:175800"} xref: UMLS:C0949506 {source="MONDO:subClassOf", source="OMIM:175800", source="NCBI:mim2gene_medline"} is_a: MONDO:0006602 {source="MONDO:0008290/inferred", source="MONDO:Redundant", source="OMIM:175800", source="indirect"} ! porokeratosis -is_a: MONDO:0019141 {source="ORDO:735/btnt"} ! porokeratosis of Mibelli +is_a: MONDO:0019141 {source="Orphanet:735/btnt"} ! porokeratosis of Mibelli relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9141 {source="mim2gene_medgen"} ! PMVK property_value: confidence "1.1527777777777777" xsd:double @@ -151508,8 +151478,8 @@ synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [OMIM:175850] synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850] synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [OMIM:175850] synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [OMIM:175850] -xref: ICD10CM:Q82.8 {source="ORDO:737/attributed", source="ORDO:737/ntbt", source="Orphanet:737"} -xref: OMIM:175850 {source="ORDO:737/e", source="MONDO:equivalentTo", source="Orphanet:737"} +xref: ICD10CM:Q82.8 {source="Orphanet:737", source="Orphanet:737/attributed", source="Orphanet:737/ntbt"} +xref: OMIM:175850 {source="MONDO:equivalentTo", source="Orphanet:737", source="Orphanet:737/e"} xref: Orphanet:737 {source="MONDO:equivalentTo", source="OMIM:175850"} xref: SCTID:718218005 {source="MONDO:equivalentTo"} xref: UMLS:C0162838 {source="NCBI:mim2gene_medline", source="Orphanet:737", source="MONDO:notFoundInDiseaseSubset", source="OMIM:175850"} @@ -151533,11 +151503,11 @@ synonym: "punctate palmoplantar keratoderma type II" RELATED [DOID:0080213] synonym: "type 2 punctate PPK" RELATED [GARD:0004439] xref: DOID:0080213 {source="MONDO:equivalentTo"} xref: GARD:0004439 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:79502", source="ORDO:79502/attributed", source="ORDO:79502/ntbt"} -xref: OMIM:175860 {source="Orphanet:79502", source="DOID:0080213", source="MONDO:equivalentTo", source="ORDO:79502/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:79502", source="Orphanet:79502/attributed", source="Orphanet:79502/ntbt"} +xref: OMIM:175860 {source="Orphanet:79502", source="DOID:0080213", source="MONDO:equivalentTo", source="Orphanet:79502/e"} xref: Orphanet:79502 {source="MONDO:equivalentTo", source="OMIM:175860"} xref: SCTID:765096001 {source="MONDO:equivalentTo"} -xref: UMLS:C1867982 {source="Orphanet:79502", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:175860", source="ORDO:79502/e"} +xref: UMLS:C1867982 {source="Orphanet:79502", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79502/e", source="OMIM:175860"} is_a: MONDO:0016518 {source="Orphanet:79502"} ! isolated punctate palmoplantar keratoderma is_a: MONDO:0017675 {source="DOID:0080213", source="Orphanet:79502/inferred"} ! punctate palmoplantar keratoderma property_value: confidence "3.7222222222222223" xsd:double @@ -151558,8 +151528,8 @@ xref: OMIM:175900 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="MONDO:subClassOf", source="OMIM:175900"} xref: UMLS:C1867981 {source="OMIM:175900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:175900", source="indirect"} ! porokeratosis -is_a: MONDO:0019141 {source="ORDO:735/btnt"} ! porokeratosis of Mibelli -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019141 {source="Orphanet:735/btnt"} ! porokeratosis of Mibelli +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7530 {source="mim2gene_medgen"} ! MVK property_value: confidence "1.1527777777777777" xsd:double @@ -151585,15 +151555,15 @@ synonym: "UPS deficiency" RELATED [OMIM:176000] synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000] xref: DOID:3890 {source="MONDO:equivalentTo"} xref: GARD:0005732 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E80.2 {source="ORDO:79276/attributed", source="ORDO:79276/ntbt", source="Orphanet:79276"} -xref: MESH:D017118 {source="MONDO:equivalentTo", source="ORDO:79276/e", source="Orphanet:79276", source="DOID:3890"} +xref: ICD10CM:E80.2 {source="Orphanet:79276", source="Orphanet:79276/attributed", source="Orphanet:79276/ntbt"} +xref: MESH:D017118 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"} xref: NCIT:C84536 {source="MONDO:equivalentTo", source="DOID:3890"} -xref: OMIM:176000 {source="MONDO:equivalentTo", source="ORDO:79276/e", source="Orphanet:79276", source="DOID:3890"} +xref: OMIM:176000 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"} xref: Orphanet:79276 {source="MONDO:equivalentTo", source="OMIM:176000"} xref: SCTID:190914003 {source="DOID:3890"} xref: SCTID:234422006 {source="MONDO:equivalentTo", source="DOID:3890"} xref: SCTID:90842001 {source="DOID:3890"} -xref: UMLS:C0162565 {source="NCIT:C84536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176000", source="ORDO:79276/e", source="Orphanet:79276", source="DOID:3890"} +xref: UMLS:C0162565 {source="Orphanet:79276/e", source="NCIT:C84536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176000", source="Orphanet:79276", source="DOID:3890"} xref: UMLS:C0268322 {source="OMIM:176000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1867969 {source="OMIM:176000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2936779 {source="OMIM:176000", source="MONDO:notFoundInDiseaseSubset"} @@ -151614,9 +151584,9 @@ synonym: "PCT, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda type I" EXACT [Orphanet:443057] synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090] -xref: ICD10CM:E80.1 {source="Orphanet:443057", source="ORDO:443057/attributed", source="ORDO:443057/ntbt"} +xref: ICD10CM:E80.1 {source="Orphanet:443057", source="Orphanet:443057/attributed", source="Orphanet:443057/ntbt"} xref: MESH:C566768 {source="MONDO:equivalentTo"} -xref: OMIM:176090 {source="Orphanet:443057", source="ORDO:443057/e", source="MONDO:equivalentTo"} +xref: OMIM:176090 {source="Orphanet:443057", source="MONDO:equivalentTo", source="Orphanet:443057/e"} xref: Orphanet:101330 {source="MONDO:subClassOf", source="OMIM:176090"} xref: Orphanet:443057 {source="MONDO:equivalentTo"} xref: SCTID:402479002 {source="MONDO:equivalentTo"} @@ -151645,8 +151615,8 @@ synonym: "porphyria, Hepatocutaneous type" RELATED [OMIM:176100] synonym: "porphyria, hepatoerythropoietic" RELATED [OMIM:176100] synonym: "Urod deficiency" RELATED [OMIM:176100] synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100] -xref: ICD10CM:E80.1 {source="ORDO:443062/attributed", source="ORDO:443062/ntbt", source="Orphanet:443062"} -xref: OMIM:176100 {source="MONDO:equivalentTo", source="Orphanet:443062", source="ORDO:443062/e"} +xref: ICD10CM:E80.1 {source="Orphanet:443062", source="Orphanet:443062/attributed", source="Orphanet:443062/ntbt"} +xref: OMIM:176100 {source="Orphanet:443062/e", source="MONDO:equivalentTo", source="Orphanet:443062"} xref: Orphanet:101330 {source="MONDO:subClassOf", source="OMIM:176100"} xref: Orphanet:443062 {source="MONDO:equivalentTo"} xref: Orphanet:95159 {source="MONDO:superClassOf", source="OMIM:176100", source="MONDO:directSiblingOf"} @@ -151678,10 +151648,10 @@ synonym: "variegate porphyria, homozygous variant" RELATED [OMIM:176200] synonym: "VP" RELATED ABBREVIATION [GARD:0007848] xref: DOID:4346 {source="MONDO:equivalentTo"} xref: GARD:0007848 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.2 {source="ORDO:79473/attributed", source="ORDO:79473/ntbt", source="Orphanet:79473"} +xref: ICD10CM:E80.2 {source="Orphanet:79473/attributed", source="Orphanet:79473/ntbt", source="Orphanet:79473"} xref: MESH:D046350 {source="DOID:4346", source="MONDO:equivalentTo"} xref: NCIT:C85219 {source="DOID:4346", source="MONDO:equivalentTo"} -xref: OMIM:176200 {source="DOID:4346", source="MONDO:equivalentTo", source="ORDO:79473/e", source="Orphanet:79473"} +xref: OMIM:176200 {source="Orphanet:79473/e", source="DOID:4346", source="MONDO:equivalentTo", source="Orphanet:79473"} xref: Orphanet:79473 {source="MONDO:equivalentTo", source="OMIM:176200"} xref: SCTID:276264004 {source="DOID:4346"} xref: SCTID:58275005 {source="DOID:4346", source="MONDO:equivalentTo"} @@ -151703,9 +151673,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2730"} synonym: "oligodactyly tetramelic postaxial" RELATED [GARD:0004065] synonym: "postaxial oligodactyly, tetramelic" RELATED [OMIM:176240] xref: GARD:0004065 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:2730", source="ORDO:2730/attributed", source="ORDO:2730/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:2730/attributed", source="Orphanet:2730/ntbt", source="Orphanet:2730"} xref: MESH:C566767 {source="MONDO:equivalentTo"} -xref: OMIM:176240 {source="ORDO:2730/e", source="Orphanet:2730", source="MONDO:equivalentTo"} +xref: OMIM:176240 {source="Orphanet:2730", source="MONDO:equivalentTo", source="Orphanet:2730/e"} xref: Orphanet:2730 {source="OMIM:176240", source="MONDO:equivalentTo"} xref: UMLS:C1867924 {source="OMIM:176240", source="NCBI:mim2gene_medline", source="Orphanet:2730", source="MONDO:equivalentTo"} is_a: MONDO:0018234 ! dysostosis @@ -151745,17 +151715,17 @@ synonym: "PWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176270] synonym: "Willi-Prader syndrome" EXACT [Orphanet:739] xref: DOID:11983 {source="MONDO:equivalentTo"} xref: GARD:0005575 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:739/ntbt", source="Orphanet:739", source="ORDO:739/inclusion", source="DOID:11983"} +xref: ICD10CM:Q87.1 {source="Orphanet:739/inclusion", source="Orphanet:739", source="Orphanet:739/ntbt", source="DOID:11983"} xref: ICD9:759.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:11983"} -xref: MedDRA:10036476 {source="ORDO:739/e", source="Orphanet:739"} -xref: MESH:D011218 {source="MONDO:equivalentTo", source="ORDO:739/e", source="Orphanet:739", source="DOID:11983"} +xref: MedDRA:10036476 {source="Orphanet:739", source="Orphanet:739/e"} +xref: MESH:D011218 {source="MONDO:equivalentTo", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"} xref: NCIT:C75463 {source="MONDO:equivalentTo", source="DOID:11983"} -xref: OMIM:176270 {source="MONDO:equivalentTo", source="ORDO:739/e", source="Orphanet:739", source="DOID:11983"} -xref: OMIM:615547 {source="ORDO:739/btnt", source="MONDO:superClassOf", source="Orphanet:739"} +xref: OMIM:176270 {source="MONDO:equivalentTo", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"} +xref: OMIM:615547 {source="MONDO:superClassOf", source="Orphanet:739", source="Orphanet:739/btnt"} xref: Orphanet:739 {source="OMIM:176270", source="MONDO:equivalentTo"} xref: SCTID:205794007 {source="DOID:11983"} xref: SCTID:89392001 {source="MONDO:equivalentTo", source="DOID:11983"} -xref: UMLS:C0032897 {source="OMIM:176270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:739/e", source="NCIT:C75463", source="Orphanet:739", source="DOID:11983"} +xref: UMLS:C0032897 {source="OMIM:176270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75463", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"} xref: UMLS:C1867858 {source="OMIM:176270", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1867859 {source="OMIM:176270", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75463", source="indirect"} ! syndromic disease @@ -151784,12 +151754,12 @@ synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [ synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [Orphanet:2957] xref: DOID:0111544 {source="MONDO:equivalentTo"} xref: GARD:0004470 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2957/attributed", source="ORDO:2957/ntbt", source="Orphanet:2957"} -xref: MESH:C538278 {source="MONDO:equivalentTo", source="Orphanet:2957", source="ORDO:2957/e"} -xref: OMIM:176305 {source="MONDO:equivalentTo", source="Orphanet:2957", source="ORDO:2957/e"} +xref: ICD10CM:Q87.2 {source="Orphanet:2957", source="Orphanet:2957/attributed", source="Orphanet:2957/ntbt"} +xref: MESH:C538278 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"} +xref: OMIM:176305 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"} xref: Orphanet:2957 {source="MONDO:equivalentTo", source="OMIM:176305"} xref: SCTID:722452004 {source="MONDO:equivalentTo"} -xref: UMLS:C1867801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2957", source="ORDO:2957/e", source="OMIM:176305"} +xref: UMLS:C1867801 {source="Orphanet:2957/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2957", source="OMIM:176305"} is_a: MONDO:0015620 {source="Orphanet:2957"} ! syndromic urogenital tract malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5102 {source="mim2gene_medgen"} ! HOXA13 property_value: confidence "9.0" xsd:double @@ -151808,7 +151778,7 @@ xref: Orphanet:759 {source="MONDO:subClassOf", source="OMIM:176400"} xref: UMLS:C0342543 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C3805879 {source="MONDO:equivalentTo", source="OMIM:176400"} is_a: MONDO:0000088 {source="MONDO:Redundant", source="OMIM:176400", source="indirect"} ! precocious puberty -is_a: MONDO:0019165 {source="MONDO:Redundant", source="ORDO:759/btnt"} ! central precocious puberty +is_a: MONDO:0019165 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4510 ! KISS1R relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4510 {source="mim2gene_medgen"} ! KISS1R @@ -151836,15 +151806,15 @@ synonym: "testotoxicosis" EXACT [GARD:0004475, Orphanet:3000] synonym: "testotoxicosis, familial" EXACT [OMIM:176410] xref: DOID:0111545 {source="MONDO:equivalentTo"} xref: GARD:0004475 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E30.1 {source="MONDO:subClassOf", source="ORDO:3000/attributed", source="ORDO:3000/ntbt", source="Orphanet:3000"} -xref: MedDRA:10063654 {source="Orphanet:3000", source="ORDO:3000/e"} -xref: MedDRA:10063656 {source="Orphanet:3000", source="ORDO:3000/e"} -xref: MESH:C536961 {source="Orphanet:3000", source="ORDO:3000/e"} -xref: OMIM:176410 {source="MONDO:equivalentTo", source="Orphanet:3000", source="ORDO:3000/e"} +xref: ICD10CM:E30.1 {source="MONDO:subClassOf", source="Orphanet:3000/attributed", source="Orphanet:3000/ntbt", source="Orphanet:3000"} +xref: MedDRA:10063654 {source="Orphanet:3000/e", source="Orphanet:3000"} +xref: MedDRA:10063656 {source="Orphanet:3000/e", source="Orphanet:3000"} +xref: MESH:C536961 {source="Orphanet:3000/e", source="Orphanet:3000"} +xref: OMIM:176410 {source="Orphanet:3000/e", source="MONDO:equivalentTo", source="Orphanet:3000"} xref: Orphanet:3000 {source="MONDO:equivalentTo", source="OMIM:176410"} xref: SCTID:237818003 {source="MONDO:equivalentTo"} -xref: UMLS:C0342549 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:176410", source="Orphanet:3000", source="ORDO:3000/e"} -xref: UMLS:C1504412 {source="MONDO:equivalentTo", source="Orphanet:3000", source="ORDO:3000/e"} +xref: UMLS:C0342549 {source="Orphanet:3000/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:176410", source="Orphanet:3000"} +xref: UMLS:C1504412 {source="Orphanet:3000/e", source="MONDO:equivalentTo", source="Orphanet:3000"} xref: UMLS:C2674612 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176410"} is_a: MONDO:0015791 {source="Orphanet:3000"} ! peripheral precocious puberty intersection_of: MONDO:0015791 ! peripheral precocious puberty @@ -151856,8 +151826,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 id: MONDO:0008304 name: premature chromatid separation trait synonym: "PCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176430] -synonym: "premature chromatid separation trait" EXACT [OMIM:176430, OMIM:genemap2] -synonym: "premature chromatid separation trait" EXACT [MONDO:Lexical, OMIM:176430] +synonym: "premature chromatid separation trait" EXACT [MONDO:Lexical, OMIM:176430, OMIM:genemap2] synonym: "total premature chromatid separation trait" RELATED [OMIM:176430] xref: EFO:0009077 {source="MONDO:equivalentTo"} xref: OMIM:176430 {source="MONDO:equivalentTo"} @@ -151880,14 +151849,14 @@ synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele synonym: "Scra1" RELATED [OMIM:176450] xref: DOID:0111546 {source="MONDO:equivalentTo"} xref: GARD:0001626 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1552", source="ORDO:1552/attributed", source="ORDO:1552/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1552", source="Orphanet:1552/attributed", source="Orphanet:1552/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536221 {source="Orphanet:1552", source="ORDO:1552/e", source="MONDO:equivalentTo"} -xref: OMIM:176450 {source="Orphanet:1552", source="ORDO:1552/e", source="MONDO:equivalentTo"} +xref: MESH:C536221 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} +xref: OMIM:176450 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} xref: Orphanet:1552 {source="MONDO:equivalentTo", source="OMIM:176450"} xref: SCTID:413936007 {source="MONDO:equivalentTo"} xref: UMLS:C1415596 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176450"} -xref: UMLS:C1531773 {source="Orphanet:1552", source="ORDO:1552/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176450"} +xref: UMLS:C1531773 {source="Orphanet:1552", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176450", source="Orphanet:1552/e"} xref: UMLS:C1867774 {source="MONDO:superClassOf", source="OMIM:176450"} xref: UMLS:C1867775 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176450"} is_a: MONDO:0015246 {source="Orphanet:1552"} ! syndromic anorectal malformation @@ -151916,12 +151885,12 @@ synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [DOID:0070029] synonym: "presenile dementia with spastic ataxia" EXACT [DOID:0070029, GARD:0008344, OMIM:176500] xref: DOID:0070029 {source="MONDO:equivalentTo"} xref: GARD:0008344 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E85.4+ {source="Orphanet:97345", source="ORDO:97345/attributed", source="ORDO:97345/ntbt"} -xref: ICD10EXP:I68.0* {source="Orphanet:97345", source="ORDO:97345/attributed", source="ORDO:97345/ntbt"} -xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="ORDO:97345/e"} -xref: OMIM:176500 {source="Orphanet:97345", source="MONDO:equivalentTo", source="DOID:0070029", source="GARD:0008344", source="ORDO:97345/e"} +xref: ICD10EXP:E85.4+ {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} +xref: ICD10EXP:I68.0* {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} +xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="Orphanet:97345/e"} +xref: OMIM:176500 {source="Orphanet:97345", source="MONDO:equivalentTo", source="DOID:0070029", source="Orphanet:97345/e", source="GARD:0008344"} xref: Orphanet:97345 {source="MONDO:equivalentTo", source="GARD:0008344", source="OMIM:176500"} -xref: UMLS:C1867773 {source="Orphanet:97345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0008344", source="OMIM:176500", source="ORDO:97345/e"} +xref: UMLS:C1867773 {source="Orphanet:97345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97345/e", source="GARD:0008344", source="OMIM:176500"} is_a: MONDO:0005620 {source="DC-OMIM:176500", source="DOID:0070029", source="MESH:C538208/inferred"} ! cerebral amyloid angiopathy is_a: MONDO:0018591 {source="Orphanet:97345"} ! ITM2B amyloidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6174 {source="mim2gene_medgen"} ! ITM2B @@ -151988,18 +151957,18 @@ synonym: "progeria" BROAD [OMIM:176670, Orphanet:740] synonym: "progeria syndrome, childhood-onset" RELATED [OMIM:176670] xref: DOID:3911 {source="MONDO:equivalentTo"} xref: GARD:0007467 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.8 {source="ORDO:740/inclusion", source="DOID:3911", source="ORDO:740/ntbt", source="Orphanet:740"} +xref: ICD10CM:E34.8 {source="Orphanet:740/ntbt", source="DOID:3911", source="Orphanet:740/inclusion", source="Orphanet:740"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036794 {source="ORDO:740/e", source="Orphanet:740"} -xref: MESH:D011371 {source="MONDO:equivalentTo", source="DOID:3911", source="ORDO:740/e", source="Orphanet:740"} +xref: MedDRA:10036794 {source="Orphanet:740/e", source="Orphanet:740"} +xref: MESH:D011371 {source="Orphanet:740/e", source="MONDO:equivalentTo", source="DOID:3911", source="Orphanet:740"} xref: NCIT:C34951 {source="MONDO:equivalentTo", source="DOID:3911"} -xref: OMIM:176670 {source="MONDO:equivalentTo", source="DOID:3911", source="ORDO:740/e", source="Orphanet:740"} +xref: OMIM:176670 {source="Orphanet:740/e", source="MONDO:equivalentTo", source="DOID:3911", source="Orphanet:740"} xref: Orphanet:740 {source="MONDO:equivalentTo", source="OMIM:176670"} xref: SCTID:190590004 {source="DOID:3911"} xref: SCTID:238869000 {source="DOID:3911"} xref: SCTID:238870004 {source="MONDO:equivalentTo", source="DOID:3911"} xref: SCTID:46238000 {source="DOID:3911"} -xref: UMLS:C0033300 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176670", source="DOID:3911", source="NCIT:C34951", source="ORDO:740/e", source="Orphanet:740"} +xref: UMLS:C0033300 {source="Orphanet:740/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:176670", source="DOID:3911", source="NCIT:C34951", source="Orphanet:740"} xref: UMLS:C2750285 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176670"} xref: UMLS:CN236401 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C34951"} ! syndromic disease @@ -152024,11 +151993,11 @@ synonym: "Mulvihill-Smith syndrome" EXACT [OMIM:176690, Orphanet:2959] synonym: "progeroid short stature with pigmented nevi" RELATED [OMIM:176690] xref: GARD:0004494 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536422 {source="MONDO:equivalentTo", source="Orphanet:2959", source="ORDO:2959/e"} -xref: OMIM:176690 {source="MONDO:equivalentTo", source="Orphanet:2959", source="ORDO:2959/e"} +xref: MESH:C536422 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"} +xref: OMIM:176690 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"} xref: Orphanet:2959 {source="OMIM:176690", source="MONDO:equivalentTo"} xref: SCTID:399947002 {source="MONDO:equivalentTo"} -xref: UMLS:C1261128 {source="NCBI:mim2gene_medline", source="OMIM:176690", source="MONDO:equivalentTo", source="Orphanet:2959", source="ORDO:2959/e"} +xref: UMLS:C1261128 {source="Orphanet:2959/e", source="NCBI:mim2gene_medline", source="OMIM:176690", source="MONDO:equivalentTo", source="Orphanet:2959"} is_a: MONDO:0015333 {source="Orphanet:2959"} ! progeroid syndrome is_a: MONDO:0019303 {source="Orphanet:2959"} ! premature aging syndrome property_value: confidence "9.0" xsd:double @@ -152046,7 +152015,7 @@ synonym: "prognathism mandibular" RELATED [GARD:0010319] synonym: "prognathism, mandibular" RELATED [OMIM:176700] xref: GARD:0010319 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:D008313 {source="MONDO:equivalentTo"} -xref: OMIM:176700 {source="MONDO:equivalentTo", source="Orphanet:2964", source="ORDO:2964/e"} +xref: OMIM:176700 {source="MONDO:equivalentTo", source="Orphanet:2964", source="Orphanet:2964/e"} xref: Orphanet:2964 {source="MONDO:equivalentTo", source="OMIM:176700"} xref: UMLS:C0266075 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0399526 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176700"} @@ -152109,30 +152078,30 @@ synonym: "prostatic cancer" EXACT [DOID:10283] synonym: "prostatic neoplasm" BROAD [DOID:10283] synonym: "tumor of the prostate" BROAD [DOID:10283, NCIT:C3343] xref: DOID:10283 {source="MONDO:equivalentTo"} -xref: ICD10CM:C61 {source="Orphanet:1331", source="DOID:10283", source="ORDO:1331/attributed", source="ORDO:1331/ntbt"} +xref: ICD10CM:C61 {source="Orphanet:1331/attributed", source="Orphanet:1331/ntbt", source="Orphanet:1331", source="DOID:10283"} xref: ICD9:185 {source="MONDO:equivalentTo", source="DOID:10283", source="i2s"} xref: MESH:D011471 {source="MONDO:equivalentTo", source="DOID:10283"} xref: NCIT:C3343 {source="MONDO:subClassOf", source="DOID:10283"} xref: NCIT:C7378 {source="MONDO:equivalentTo", source="DOID:10283"} xref: OMIM:176807 {source="MONDO:relatedTo", source="DOID:10283"} -xref: OMIM:300147 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:300704 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:601518 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:602759 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:603688 {source="Orphanet:1331", source="MONDO:superClassOf", source="ORDO:1331/btnt"} -xref: OMIM:608656 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:608658 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:609299 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:609558 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:610321 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:610997 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:611100 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:611868 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:611928 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:611955 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:611958 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:611959 {source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283", source="ORDO:1331/btnt"} -xref: OMIM:614731 {source="Orphanet:1331", source="MONDO:superClassOf", source="ORDO:1331/btnt"} +xref: OMIM:300147 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:300704 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:601518 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:602759 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:603688 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf"} +xref: OMIM:608656 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:608658 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:609299 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:609558 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:610321 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:610997 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:611100 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:611868 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:611928 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:611955 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:611958 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:611959 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf", source="DOID:10283"} +xref: OMIM:614731 {source="Orphanet:1331/btnt", source="Orphanet:1331", source="MONDO:superClassOf"} xref: SCTID:126906006 {source="DOID:10283"} xref: SCTID:363448003 {source="DOID:10283"} xref: SCTID:399068003 {source="MONDO:equivalentTo", source="DOID:10283"} @@ -152161,7 +152130,7 @@ xref: OMIM:176860 {source="MONDO:equivalentTo"} xref: Orphanet:745 {source="MONDO:subClassOf", source="OMIM:176860"} xref: UMLS:C2674321 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:176860"} xref: UMLS:C2674322 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176860"} -is_a: MONDO:0019145 {source="ORDO:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency +is_a: MONDO:0019145 {source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:176860", source="indirect"} ! inherited thrombophilia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9451 {source="mim2gene_medgen"} ! PROC relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -152189,15 +152158,15 @@ synonym: "proteus syndrome, somatic" EXACT [OMIM:176920, OMIM:genemap2] synonym: "Wiedemann's syndrome" EXACT [DOID:13482] xref: DOID:13482 {source="MONDO:equivalentTo"} xref: GARD:0007475 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.3 {source="Orphanet:744", source="ORDO:744/attributed", source="ORDO:744/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:744", source="Orphanet:744/attributed", source="Orphanet:744/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D016715 {source="ORDO:744/e", source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo"} +xref: MESH:D016715 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"} xref: NCIT:C85032 {source="DOID:13482", source="MONDO:equivalentTo"} -xref: OMIM:176920 {source="ORDO:744/e", source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo"} +xref: OMIM:176920 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"} xref: Orphanet:744 {source="MONDO:equivalentTo", source="OMIM:176920"} xref: SCTID:23150001 {source="DOID:13482", source="MONDO:equivalentTo"} xref: SCTID:394527003 {source="DOID:13482"} -xref: UMLS:C0085261 {source="ORDO:744/e", source="Orphanet:744", source="NCBI:mim2gene_medline", source="DOID:13482", source="MONDO:equivalentTo", source="NCIT:C85032", source="OMIM:176920"} +xref: UMLS:C0085261 {source="Orphanet:744", source="NCBI:mim2gene_medline", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e", source="NCIT:C85032", source="OMIM:176920"} xref: UMLS:C1867610 {source="MONDO:superClassOf", source="OMIM:176920"} is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:744", source="Orphanet:744/inferred"} ! genetic vascular anomaly is_a: MONDO:0017623 {source="Orphanet:744"} ! PTEN hamartoma tumor syndrome @@ -152269,14 +152238,14 @@ synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:00800 synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177170] xref: DOID:0080047 {source="MONDO:equivalentTo"} xref: GARD:0004540 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:750/attributed", source="ORDO:750/ntbt", source="Orphanet:750"} +xref: ICD10CM:Q77.8 {source="Orphanet:750/attributed", source="Orphanet:750/ntbt", source="Orphanet:750"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535819 {source="MONDO:equivalentTo", source="ORDO:750/e", source="Orphanet:750"} +xref: MESH:C535819 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="Orphanet:750"} xref: NCIT:C118635 {source="MONDO:equivalentTo"} -xref: OMIM:177170 {source="MONDO:equivalentTo", source="DOID:0080047", source="ORDO:750/e", source="Orphanet:750"} +xref: OMIM:177170 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="DOID:0080047", source="Orphanet:750"} xref: Orphanet:750 {source="OMIM:177170", source="MONDO:equivalentTo"} xref: SCTID:22567005 {source="MONDO:equivalentTo"} -xref: UMLS:C0410538 {source="OMIM:177170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118635", source="ORDO:750/e", source="Orphanet:750"} +xref: UMLS:C0410538 {source="OMIM:177170", source="NCBI:mim2gene_medline", source="Orphanet:750/e", source="MONDO:equivalentTo", source="NCIT:C118635", source="Orphanet:750"} is_a: MONDO:0005516 {source="DOID:0080047", source="MESH:C535819/inferred"} ! osteochondrodysplasia is_a: MONDO:0019692 {source="Orphanet:750"} ! multiple epiphyseal dysplasia and pseudoachondroplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2227 {source="mim2gene_medgen"} ! COMP @@ -152296,12 +152265,12 @@ synonym: "pseudoaldosteronism" EXACT [DOID:0050477, OMIM:177200, Orphanet:526] synonym: "pseudohyperaldosteronism type 1" NARROW [Orphanet:526] xref: DOID:0050477 {source="MONDO:equivalentTo"} xref: GARD:0007381 {source="MONDO:equivalentTo"} -xref: ICD10CM:I15.1 {source="Orphanet:526", source="ORDO:526/attributed", source="ORDO:526/ntbt"} -xref: MedDRA:10037113 {source="ORDO:526/e", source="Orphanet:526"} -xref: MedDRA:10052313 {source="ORDO:526/e", source="Orphanet:526"} -xref: MESH:D056929 {source="ORDO:526/e", source="Orphanet:526", source="DOID:0050477", source="MONDO:equivalentTo"} +xref: ICD10CM:I15.1 {source="Orphanet:526/attributed", source="Orphanet:526/ntbt", source="Orphanet:526"} +xref: MedDRA:10037113 {source="Orphanet:526", source="Orphanet:526/e"} +xref: MedDRA:10052313 {source="Orphanet:526", source="Orphanet:526/e"} +xref: MESH:D056929 {source="Orphanet:526", source="DOID:0050477", source="MONDO:equivalentTo", source="Orphanet:526/e"} xref: NCIT:C84827 {source="DOID:0050477", source="MONDO:equivalentTo"} -xref: OMIM:177200 {source="ORDO:526/e", source="Orphanet:526", source="DOID:0050477", source="MONDO:superClassOf"} +xref: OMIM:177200 {source="Orphanet:526", source="DOID:0050477", source="MONDO:superClassOf", source="Orphanet:526/e"} xref: OMIMPS:177200 {source="MONDO:equivalentTo"} xref: Orphanet:526 {source="MONDO:equivalentTo", source="OMIM:177200"} xref: SCTID:190901004 {source="DOID:0050477"} @@ -152309,7 +152278,7 @@ xref: SCTID:237493003 {source="DOID:0050477"} xref: SCTID:707747007 {source="MONDO:equivalentTo"} xref: SCTID:707749005 {source="DOID:0050477"} xref: SCTID:71275003 {source="DOID:0050477"} -xref: UMLS:C0221043 {source="ORDO:526/e", source="Orphanet:526", source="DOID:0050477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84827", source="OMIM:177200"} +xref: UMLS:C0221043 {source="Orphanet:526", source="DOID:0050477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84827", source="OMIM:177200", source="Orphanet:526/e"} is_a: MONDO:0002254 {source="NCIT:C84827"} ! syndromic disease is_a: MONDO:0006510 {source="DOID:0050477", source="MESH:D056929"} ! renal tubular transport disease is_a: MONDO:0015512 {source="Orphanet:526"} ! genetic hypertension @@ -152408,10 +152377,10 @@ synonym: "renal PHA1" RELATED [GARD:0009145] synonym: "renal pseudohypoaldosteronism type 1" RELATED [GARD:0009145] xref: DOID:0060855 {source="MONDO:equivalentTo"} xref: GARD:0009145 {source="MONDO:equivalentTo"} -xref: ICD10CM:N25.8 {source="ORDO:171871/attributed", source="ORDO:171871/ntbt", source="DOID:0060855", source="Orphanet:171871"} +xref: ICD10CM:N25.8 {source="DOID:0060855", source="Orphanet:171871", source="Orphanet:171871/attributed", source="Orphanet:171871/ntbt"} xref: MESH:D011546 {source="MONDO:subClassOf", source="DOID:0060855"} xref: NCIT:C126810 {source="MONDO:equivalentTo"} -xref: OMIM:177735 {source="MONDO:equivalentTo", source="DOID:0060855", source="Orphanet:171871", source="ORDO:171871/e"} +xref: OMIM:177735 {source="MONDO:equivalentTo", source="DOID:0060855", source="Orphanet:171871", source="Orphanet:171871/e"} xref: Orphanet:171871 {source="MONDO:equivalentTo", source="OMIM:177735"} xref: Orphanet:756 {source="MONDO:subClassOf", source="DOID:0060855", source="OMIM:177735"} xref: UMLS:C1449842 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171871", source="OMIM:177735"} @@ -152474,10 +152443,10 @@ synonym: "Von Willebrand disease, Platelet-type" RELATED [OMIM:177820] synonym: "VWDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177820] xref: DOID:0111056 {source="MONDO:equivalentTo"} xref: GARD:0008312 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.8 {source="Orphanet:52530", source="DOID:0111056", source="ORDO:52530/attributed", source="ORDO:52530/ntbt"} +xref: ICD10CM:D69.8 {source="Orphanet:52530", source="Orphanet:52530/attributed", source="Orphanet:52530/ntbt", source="DOID:0111056"} xref: MESH:C536458 {source="MONDO:equivalentTo"} xref: NCIT:C131681 {source="MONDO:equivalentTo"} -xref: OMIM:177820 {source="Orphanet:52530", source="MONDO:equivalentTo", source="DOID:0111056", source="ORDO:52530/e"} +xref: OMIM:177820 {source="Orphanet:52530", source="MONDO:equivalentTo", source="Orphanet:52530/e", source="DOID:0111056"} xref: Orphanet:52530 {source="MONDO:equivalentTo", source="DOID:0111056", source="OMIM:177820"} xref: UMLS:C1280798 {source="Orphanet:52530", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C131681", source="OMIM:177820"} is_a: MONDO:0000009 {source="DC-OMIM:177820", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:177820", source="indirect"} ! inherited bleeding disorder, platelet-type @@ -152540,12 +152509,12 @@ synonym: "pterygia, intellectual disability, and distinctive craniofacial featur synonym: "pterygia, mental retardation and distinctive craniofacial features" RELATED DEPRECATED [GARD:0002605] synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED DEPRECATED [OMIM:177980] xref: GARD:0002605 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2994", source="ORDO:2994/attributed", source="ORDO:2994/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2994/attributed", source="Orphanet:2994/ntbt", source="Orphanet:2994"} xref: MESH:C535844 {source="MONDO:equivalentTo"} -xref: OMIM:177980 {source="ORDO:2994/e", source="Orphanet:2994", source="MONDO:equivalentTo"} +xref: OMIM:177980 {source="Orphanet:2994", source="MONDO:equivalentTo", source="Orphanet:2994/e"} xref: Orphanet:2994 {source="MONDO:equivalentTo", source="OMIM:177980"} xref: SCTID:716090004 {source="MONDO:equivalentTo"} -xref: UMLS:C1867443 {source="ORDO:2994/e", source="NCBI:mim2gene_medline", source="Orphanet:2994", source="MONDO:equivalentTo", source="OMIM:177980"} +xref: UMLS:C1867443 {source="NCBI:mim2gene_medline", source="Orphanet:2994", source="MONDO:equivalentTo", source="OMIM:177980", source="Orphanet:2994/e"} is_a: MONDO:0015161 {source="Orphanet:2994", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2994", source="Orphanet:2994/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2994"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -152569,9 +152538,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:2989"} synonym: "pterygium of conjunctiva and cornea" RELATED [OMIM:178000] synonym: "pterygium of the conjunctiva and cornea" RELATED [GARD:0004569] xref: GARD:0004569 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H11.0 {source="ORDO:2989/attributed", source="ORDO:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"} +xref: ICD10CM:H11.0 {source="Orphanet:2989/attributed", source="Orphanet:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"} xref: MESH:C566740 {source="MONDO:equivalentTo"} -xref: OMIM:178000 {source="MONDO:equivalentTo", source="ORDO:2989/e", source="Orphanet:2989"} +xref: OMIM:178000 {source="Orphanet:2989/e", source="MONDO:equivalentTo", source="Orphanet:2989"} xref: Orphanet:2989 {source="OMIM:178000", source="MONDO:equivalentTo"} xref: UMLS:C1867441 {source="OMIM:178000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020204 {source="Orphanet:2989"} ! conjunctival tumor @@ -152590,9 +152559,9 @@ synonym: "distal arthrogryposis type 8" EXACT [Orphanet:65743] synonym: "multiple pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:178110] synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [OMIM:178110] xref: GARD:0013058 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.8 {source="Orphanet:65743", source="ORDO:65743/attributed", source="ORDO:65743/ntbt"} +xref: ICD10CM:Q79.8 {source="Orphanet:65743", source="Orphanet:65743/attributed", source="Orphanet:65743/ntbt"} xref: MESH:C566739 {source="MONDO:equivalentTo"} -xref: OMIM:178110 {source="ORDO:65743/e", source="Orphanet:65743", source="MONDO:equivalentTo"} +xref: OMIM:178110 {source="Orphanet:65743", source="MONDO:equivalentTo", source="Orphanet:65743/e"} xref: Orphanet:65743 {source="OMIM:178110", source="MONDO:equivalentTo"} xref: UMLS:C1867440 {source="Orphanet:65743", source="OMIM:178110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017415 {source="MONDO:Redundant", source="Orphanet:65743"} ! multiple pterygium syndrome @@ -152617,7 +152586,7 @@ synonym: "pterygium antecubital" RELATED [GARD:0004570] synonym: "pterygium, antecubital" RELATED [OMIM:178200] xref: GARD:0004570 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C566738 {source="MONDO:equivalentTo"} -xref: OMIM:178200 {source="MONDO:equivalentTo", source="ORDO:2987/e", source="Orphanet:2987"} +xref: OMIM:178200 {source="MONDO:equivalentTo", source="Orphanet:2987", source="Orphanet:2987/e"} xref: Orphanet:2987 {source="MONDO:equivalentTo", source="OMIM:178200"} xref: UMLS:C1867439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:178200", source="Orphanet:2987"} is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder @@ -152638,21 +152607,21 @@ synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical, OMIM:178300] synonym: "ptosis, hereditary congenital, 1" EXACT [OMIM:178300, OMIM:genemap2] xref: DOID:0060261 {source="MONDO:equivalentTo"} xref: HP:0007970 {source="MONDO:otherHierarchy", source="DOID:0060261"} -xref: ICD10CM:Q10.0 {source="ORDO:91411/specific", source="ORDO:91411/e", source="Orphanet:91411", source="DOID:0060261"} +xref: ICD10CM:Q10.0 {source="Orphanet:91411/specific", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"} xref: ICD9:743.61 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060261"} -xref: MedDRA:10015996 {source="ORDO:91411/e", source="Orphanet:91411"} +xref: MedDRA:10015996 {source="Orphanet:91411", source="Orphanet:91411/e"} xref: MESH:C566737 {source="MONDO:equivalentTo"} xref: NCIT:C27049 {source="MONDO:equivalentTo", source="DOID:0060261"} -xref: OMIM:178300 {source="ORDO:91411/e", source="MONDO:equivalentTo", source="Orphanet:91411", source="DOID:0060261"} -xref: OMIM:300245 {source="MONDO:superClassOf", source="ORDO:91411/btnt", source="Orphanet:91411", source="DOID:0060261"} -xref: OMIM:616219 {source="ORDO:91411/nd", source="MONDO:superClassOf", source="Orphanet:91411"} +xref: OMIM:178300 {source="MONDO:equivalentTo", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"} +xref: OMIM:300245 {source="MONDO:superClassOf", source="Orphanet:91411", source="Orphanet:91411/btnt", source="DOID:0060261"} +xref: OMIM:616219 {source="MONDO:superClassOf", source="Orphanet:91411", source="Orphanet:91411/nd"} xref: Orphanet:91411 {source="MONDO:equivalentTo", source="OMIM:178300"} xref: SCTID:156901004 {source="DOID:0060261"} xref: SCTID:204197004 {source="DOID:0060261"} xref: SCTID:268163008 {source="MONDO:equivalentTo", source="DOID:0060261"} xref: SCTID:60938005 {source="DOID:0060261"} xref: SCTID:61989004 {source="DOID:0060261"} -xref: UMLS:C0266573 {source="ORDO:91411/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91411", source="DOID:0060261"} +xref: UMLS:C0266573 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"} xref: UMLS:C1867438 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:178300"} is_a: MONDO:0000728 {source="DOID:0060261", source="MESH:C566737", source="NCIT:C27049", source="linkedlifedata"} ! ptosis is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -152671,7 +152640,7 @@ synonym: "ptosis strabismus ectopic pupils" RELATED [GARD:0004577] synonym: "ptosis, strabismus, and ectopic pupils" RELATED [OMIM:178330] xref: GARD:0004577 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C566736 {source="MONDO:equivalentTo"} -xref: OMIM:178330 {source="MONDO:equivalentTo", source="Orphanet:2999", source="ORDO:2999/e"} +xref: OMIM:178330 {source="MONDO:equivalentTo", source="Orphanet:2999", source="Orphanet:2999/e"} xref: Orphanet:2999 {source="OMIM:178330", source="MONDO:equivalentTo"} xref: UMLS:C1867437 {source="OMIM:178330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2999"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -152695,13 +152664,13 @@ subset: ordo_morphological_anomaly {source="Orphanet:1207"} synonym: "pulmonary atresia with ventricular septal defect" EXACT [OMIM:178370] synonym: "pulmonary valve atresia with ventricular septal defect" EXACT [NCIT:C99033] xref: GARD:0004588 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q25.5 {source="ORDO:1207/ntbt", source="Orphanet:1207"} +xref: ICD10CM:Q25.5 {source="Orphanet:1207/ntbt", source="Orphanet:1207"} xref: MESH:C562833 {source="MONDO:equivalentTo"} xref: NCIT:C99033 {source="MONDO:equivalentTo"} -xref: OMIM:178370 {source="MONDO:equivalentTo", source="ORDO:1207/e", source="Orphanet:1207"} +xref: OMIM:178370 {source="Orphanet:1207/e", source="MONDO:equivalentTo", source="Orphanet:1207"} xref: Orphanet:1207 {source="OMIM:178370", source="MONDO:equivalentTo"} xref: SCTID:253591008 {source="MONDO:equivalentTo"} -xref: UMLS:C0344976 {source="OMIM:178370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99033", source="ORDO:1207/e", source="Orphanet:1207"} +xref: UMLS:C0344976 {source="OMIM:178370", source="Orphanet:1207/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99033", source="Orphanet:1207"} is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0016581 {source="Orphanet:1207"} ! conotruncal heart malformations property_value: confidence "8.375" xsd:double @@ -152751,17 +152720,17 @@ synonym: "usual interstitial pneumonia" EXACT [Orphanet:2032] xref: DOID:0050156 {source="MONDO:equivalentTo", source="EFO:0000768"} xref: EFO:0000768 {source="DOID:0050156", source="MONDO:equivalentTo"} xref: GARD:0008609 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.1 {source="ORDO:2032/ntbt", source="Orphanet:2032"} +xref: ICD10CM:J84.1 {source="Orphanet:2032/ntbt", source="Orphanet:2032"} xref: ICD10CM:J84.112 {source="DOID:0050156", source="MONDO:equivalentTo"} xref: ICD9:516.31 {source="DOID:0050156", source="EFO:0000768"} -xref: MedDRA:10021240 {source="Orphanet:2032", source="ORDO:2032/e"} -xref: MESH:D054990 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032", source="ORDO:2032/e"} +xref: MedDRA:10021240 {source="Orphanet:2032/e", source="Orphanet:2032"} +xref: MESH:D054990 {source="DOID:0050156", source="Orphanet:2032/e", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032"} xref: NCIT:C35715 {source="DOID:0050156"} xref: NCIT:C35716 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768"} -xref: OMIM:178500 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032", source="ORDO:2032/e"} +xref: OMIM:178500 {source="DOID:0050156", source="Orphanet:2032/e", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032"} xref: OMIM:614742 {source="MONDO:superClassOf", source="EFO:0000768"} -xref: OMIM:616371 {source="MONDO:superClassOf", source="ORDO:2032/btnt", source="EFO:0000768", source="Orphanet:2032"} -xref: OMIM:616373 {source="MONDO:superClassOf", source="ORDO:2032/btnt", source="EFO:0000768", source="Orphanet:2032"} +xref: OMIM:616371 {source="MONDO:superClassOf", source="Orphanet:2032/btnt", source="EFO:0000768", source="Orphanet:2032"} +xref: OMIM:616373 {source="MONDO:superClassOf", source="Orphanet:2032/btnt", source="EFO:0000768", source="Orphanet:2032"} xref: Orphanet:2032 {source="MONDO:equivalentTo", source="OMIM:178500"} xref: Orphanet:79126 {source="MONDO:superClassOf", source="OMIM:178500"} xref: SCTID:196125002 {source="DOID:0050156", source="MONDO:equivalentTo"} @@ -152802,20 +152771,20 @@ xref: GARD:0006763 {source="MONDO:equivalentTo", source="Orphanet-shared", sourc xref: GARD:0007645 {source="MONDO:equivalentTo"} xref: ICD10CM:J63.4 {source="DOID:10328"} xref: ICD10CM:J84.03 {source="DOID:12118"} -xref: ICD10EXP:E83.1+ {source="Orphanet:99931", source="ORDO:99931/ntbt"} -xref: ICD10EXP:J99.8* {source="Orphanet:99931", source="ORDO:99931/ntbt"} +xref: ICD10EXP:E83.1+ {source="Orphanet:99931", source="Orphanet:99931/ntbt"} +xref: ICD10EXP:J99.8* {source="Orphanet:99931", source="Orphanet:99931/ntbt"} xref: ICD9:516.1 {source="DOID:12118", source="MONDO:equivalentTo", source="i2s"} -xref: MESH:C536281 {source="ORDO:99931/e", source="Orphanet:99931", source="DOID:12118"} +xref: MESH:C536281 {source="Orphanet:99931", source="DOID:12118", source="Orphanet:99931/e"} xref: MESH:D012806 {source="DOID:10328", source="MONDO:equivalentTo"} -xref: OMIM:178550 {source="ORDO:99931/e", source="Orphanet:99931", source="DOID:12118", source="MONDO:equivalentTo"} -xref: OMIM:235500 {source="Orphanet:99931", source="DOID:12118", source="MONDO:superClassOf", source="ORDO:99931/btnt"} +xref: OMIM:178550 {source="Orphanet:99931", source="DOID:12118", source="MONDO:equivalentTo", source="Orphanet:99931/e"} +xref: OMIM:235500 {source="Orphanet:99931", source="DOID:12118", source="Orphanet:99931/btnt", source="MONDO:superClassOf"} xref: Orphanet:99931 {source="DOID:12118", source="OMIM:178550", source="MONDO:equivalentTo"} xref: SCTID:155591007 {source="DOID:10328"} xref: SCTID:190848001 {source="DOID:12118"} xref: SCTID:266401007 {source="DOID:10328"} xref: SCTID:40527005 {source="DOID:12118", source="MONDO:equivalentTo"} xref: SCTID:62371005 {source="DOID:10328"} -xref: UMLS:C0020807 {source="ORDO:99931/e", source="Orphanet:99931", source="DOID:12118", source="OMIM:178550", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0020807 {source="Orphanet:99931", source="DOID:12118", source="OMIM:178550", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99931/e"} xref: UMLS:C0037061 {source="DOID:10328", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001436 {source="DOID:12118", source="linkedlifedata"} ! hemosiderosis is_a: MONDO:0015926 {source="DOID:10328", source="MESH:D012806"} ! pneumoconiosis @@ -152832,12 +152801,12 @@ synonym: "IFPAH" EXACT ABBREVIATION [MONDO:cjm] synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600] -xref: ICD10CM:I27.0 {source="MONDO:subClassOf", source="Orphanet:422", source="ORDO:422/specific", source="ORDO:422/e"} -xref: OMIM:178600 {source="Orphanet:422", source="MONDO:superClassOf", source="ORDO:422/e"} -xref: OMIM:265400 {source="Orphanet:422", source="MONDO:superClassOf", source="ORDO:422/btnt"} -xref: OMIM:615342 {source="Orphanet:422", source="MONDO:superClassOf", source="ORDO:422/btnt"} -xref: OMIM:615343 {source="Orphanet:422", source="MONDO:superClassOf", source="ORDO:422/btnt"} -xref: OMIM:615344 {source="Orphanet:422", source="MONDO:superClassOf", source="ORDO:422/btnt"} +xref: ICD10CM:I27.0 {source="MONDO:subClassOf", source="Orphanet:422", source="Orphanet:422/e", source="Orphanet:422/specific"} +xref: OMIM:178600 {source="Orphanet:422", source="MONDO:superClassOf", source="Orphanet:422/e"} +xref: OMIM:265400 {source="Orphanet:422", source="Orphanet:422/btnt", source="MONDO:superClassOf"} +xref: OMIM:615342 {source="Orphanet:422", source="Orphanet:422/btnt", source="MONDO:superClassOf"} +xref: OMIM:615343 {source="Orphanet:422", source="Orphanet:422/btnt", source="MONDO:superClassOf"} +xref: OMIM:615344 {source="Orphanet:422", source="Orphanet:422/btnt", source="MONDO:superClassOf"} xref: Orphanet:422 {source="MONDO:equivalentTo", source="OMIM:178600"} xref: UMLS:C1969342 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:178600"} xref: UMLS:C1969343 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:178600"} @@ -152856,7 +152825,7 @@ def: "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proli subset: ordo_disease {source="Orphanet:60026"} synonym: "pulmonary nodular lymphoid hyperplasia, familial" RELATED [OMIM:178610] synonym: "pulmonary pseudolymphoma" EXACT [Orphanet:60026] -xref: OMIM:178610 {source="ORDO:60026/e", source="MONDO:equivalentTo", source="Orphanet:60026"} +xref: OMIM:178610 {source="MONDO:equivalentTo", source="Orphanet:60026", source="Orphanet:60026/e"} xref: Orphanet:60026 {source="MONDO:equivalentTo", source="OMIM:178610"} xref: SCTID:718097008 {source="MONDO:equivalentTo"} xref: UMLS:C1334969 {source="MONDO:equivalentTo"} @@ -152917,15 +152886,15 @@ synonym: "pruritic urticarial papules and plaques of pregnancy, familial (subtyp synonym: "pruritic urticarial papules plaques of pregnancy" RELATED [GARD:0009635] synonym: "PUPPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178995] xref: GARD:0009635 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:O26.8 {source="Orphanet:64745", source="ORDO:64745/ntbt"} +xref: ICD10CM:O26.8 {source="Orphanet:64745", source="Orphanet:64745/ntbt"} xref: ICD9:646.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066100 {source="ORDO:64745/e", source="Orphanet:64745"} -xref: MESH:C535817 {source="ORDO:64745/e", source="MONDO:equivalentTo", source="Orphanet:64745"} -xref: OMIM:178995 {source="ORDO:64745/e", source="MONDO:equivalentTo", source="Orphanet:64745"} +xref: MedDRA:10066100 {source="Orphanet:64745", source="Orphanet:64745/e"} +xref: MESH:C535817 {source="MONDO:equivalentTo", source="Orphanet:64745", source="Orphanet:64745/e"} +xref: OMIM:178995 {source="MONDO:equivalentTo", source="Orphanet:64745", source="Orphanet:64745/e"} xref: Orphanet:64745 {source="MONDO:equivalentTo", source="OMIM:178995"} xref: SCTID:88697005 {source="MONDO:equivalentTo"} -xref: UMLS:C0269680 {source="ORDO:64745/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64745", source="OMIM:178995"} +xref: UMLS:C0269680 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64745", source="OMIM:178995", source="Orphanet:64745/e"} is_a: MONDO:0005492 {source="Orphanet:64745"} ! urticaria is_a: MONDO:0024575 {source="MESH:C535817", source="MONDO:Redundant", source="Orphanet:64745", source="indirect"} ! pregnancy disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015582", source="MONDO:0019298"} ! rare @@ -152977,13 +152946,13 @@ synonym: "radial hypoplasia, triphalangeal thumbs and hypospadias" RELATED [GARD synonym: "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" RELATED [GARD:0004626, OMIM:179250] synonym: "Schmitt-Gillenwater-Kelly syndrome" EXACT [Orphanet:2252] xref: GARD:0004626 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:2252/attributed", source="ORDO:2252/ntbt", source="Orphanet:2252"} +xref: ICD10CM:Q87.2 {source="Orphanet:2252/attributed", source="Orphanet:2252/ntbt", source="Orphanet:2252"} xref: MESH:C536262 {source="MONDO:equivalentTo"} -xref: OMIM:179250 {source="GARD:0004626", source="MONDO:equivalentTo", source="Orphanet:2252", source="ORDO:2252/e"} +xref: OMIM:179250 {source="Orphanet:2252/e", source="GARD:0004626", source="MONDO:equivalentTo", source="Orphanet:2252"} xref: Orphanet:2252 {source="OMIM:179250", source="MONDO:equivalentTo"} xref: SCTID:716092007 {source="MONDO:equivalentTo"} -xref: UMLS:C1867397 {source="OMIM:179250", source="NCBI:mim2gene_medline", source="GARD:0004626", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2252", source="ORDO:2252/e"} -xref: UMLS:C2931274 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2252", source="ORDO:2252/e"} +xref: UMLS:C1867397 {source="OMIM:179250", source="Orphanet:2252/e", source="NCBI:mim2gene_medline", source="GARD:0004626", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2252"} +xref: UMLS:C2931274 {source="Orphanet:2252/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2252"} is_a: MONDO:0015161 {source="Orphanet:2252", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2252"} ! syndromic urogenital tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2252", source="Orphanet:2252/inferred"} ! disorder of development or morphogenesis @@ -153001,13 +152970,13 @@ synonym: "radial ray hypoplasia and choanal atresia" RELATED [GARD:0004627] synonym: "radial ray hypoplasia choanal atresia" RELATED [GARD:0004627] synonym: "radial RAY hypoplasia with choanal atresia" RELATED [OMIM:179270] xref: GARD:0004627 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536263 {source="Orphanet:3026", source="ORDO:3026/e"} -xref: MESH:C537280 {source="Orphanet:3026", source="ORDO:3026/e"} -xref: OMIM:179270 {source="Orphanet:3026", source="ORDO:3026/e", source="MONDO:equivalentTo"} +xref: MESH:C536263 {source="Orphanet:3026", source="Orphanet:3026/e"} +xref: MESH:C537280 {source="Orphanet:3026", source="Orphanet:3026/e"} +xref: OMIM:179270 {source="Orphanet:3026", source="MONDO:equivalentTo", source="Orphanet:3026/e"} xref: Orphanet:3026 {source="MONDO:equivalentTo", source="OMIM:179270"} xref: SCTID:232373003 {source="MONDO:equivalentTo"} -xref: UMLS:C0339838 {source="Orphanet:3026", source="ORDO:3026/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:179270"} -xref: UMLS:C2931464 {source="Orphanet:3026", source="ORDO:3026/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0339838 {source="Orphanet:3026", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3026/e", source="OMIM:179270"} +xref: UMLS:C2931464 {source="Orphanet:3026", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3026/e"} is_a: MONDO:0015503 {source="Orphanet:3026"} ! nose and cavum anomaly is_a: MONDO:0018562 {source="Orphanet:3026", source="Orphanet:3026/inferred"} ! genetic otorhinolaryngological malformation property_value: confidence "7.125" xsd:double @@ -153021,12 +152990,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3015"} synonym: "radial-renal syndrome" RELATED [OMIM:179280] synonym: "radio renal syndrome" RELATED [GARD:0000224] xref: GARD:0000224 {source="MONDO:equivalentTo"} -xref: MESH:C536267 {source="Orphanet:3015", source="ORDO:3015/e", source="MONDO:equivalentTo"} -xref: OMIM:179280 {source="Orphanet:3015", source="ORDO:3015/e", source="MONDO:equivalentTo"} +xref: MESH:C536267 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} +xref: OMIM:179280 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} xref: Orphanet:3015 {source="MONDO:equivalentTo", source="OMIM:179280"} xref: SCTID:766765009 {source="MONDO:equivalentTo"} xref: UMLS:C1867396 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:179280"} -xref: UMLS:C2931146 {source="Orphanet:3015", source="ORDO:3015/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931146 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -153110,9 +153079,9 @@ synonym: "Recombinant chromosome 8 syndrome" EXACT [Orphanet:96167] synonym: "San Luis Valley recombinant chromosome 8 syndrome" RELATED [GARD:0009698] synonym: "San Luis Valley syndrome" EXACT [OMIM:179613, Orphanet:96167] xref: GARD:0009698 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q99.8 {source="Orphanet:96167", source="ORDO:96167/attributed", source="ORDO:96167/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:96167", source="Orphanet:96167/attributed", source="Orphanet:96167/ntbt"} xref: MESH:C535296 {source="MONDO:equivalentTo"} -xref: OMIM:179613 {source="Orphanet:96167", source="MONDO:equivalentTo", source="ORDO:96167/e"} +xref: OMIM:179613 {source="Orphanet:96167", source="MONDO:equivalentTo", source="Orphanet:96167/e"} xref: Orphanet:96167 {source="MONDO:equivalentTo", source="OMIM:179613"} xref: SCTID:718189004 {source="MONDO:equivalentTo"} xref: UMLS:C0795822 {source="Orphanet:96167", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179613"} @@ -153160,13 +153129,13 @@ synonym: "RTA, classic type" RELATED [OMIM:179800] synonym: "RTA, distal type, autosomal dominant" RELATED [OMIM:179800] synonym: "RTA, gradient type" RELATED [OMIM:179800] xref: GARD:0004668 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N25.8 {source="Orphanet:93608", source="ORDO:93608/attributed", source="ORDO:93608/ntbt"} -xref: MESH:C538565 {source="Orphanet:93608", source="ORDO:93608/e"} -xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="ORDO:93608/e"} +xref: ICD10CM:N25.8 {source="Orphanet:93608", source="Orphanet:93608/attributed", source="Orphanet:93608/ntbt"} +xref: MESH:C538565 {source="Orphanet:93608", source="Orphanet:93608/e"} +xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="Orphanet:93608/e"} xref: Orphanet:18 {source="MONDO:subClassOf", source="OMIM:179800"} xref: Orphanet:93608 {source="MONDO:equivalentTo", source="OMIM:179800"} xref: UMLS:C0259810 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:179800"} -xref: UMLS:C2931885 {source="Orphanet:93608", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93608/e"} +xref: UMLS:C2931885 {source="Orphanet:93608", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93608/e"} is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:93608"} ! distal renal tubular acidosis intersection_of: MONDO:0015827 ! distal renal tubular acidosis intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -153187,11 +153156,11 @@ synonym: "RTA, proximal type" RELATED [OMIM:179830] synonym: "RTA, rate type" RELATED [OMIM:179830] synonym: "Type 2 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "Type 2 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] -xref: ICD10CM:N25.8 {source="ORDO:47159/attributed", source="ORDO:47159/ntbt", source="Orphanet:47159"} +xref: ICD10CM:N25.8 {source="Orphanet:47159/attributed", source="Orphanet:47159/ntbt", source="Orphanet:47159"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10037080 {source="ORDO:47159/e", source="Orphanet:47159"} -xref: OMIM:179830 {source="MONDO:equivalentTo", source="ORDO:47159/e", source="Orphanet:47159"} -xref: OMIM:604278 {source="ORDO:47159/btnt", source="MONDO:superClassOf", source="Orphanet:47159"} +xref: MedDRA:10037080 {source="Orphanet:47159/e", source="Orphanet:47159"} +xref: OMIM:179830 {source="Orphanet:47159/e", source="MONDO:equivalentTo", source="Orphanet:47159"} +xref: OMIM:604278 {source="Orphanet:47159/btnt", source="MONDO:superClassOf", source="Orphanet:47159"} xref: Orphanet:47159 {source="MONDO:equivalentTo", source="OMIM:179830"} xref: SCTID:24790002 {source="MONDO:equivalentTo"} xref: UMLS:C0268435 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:179830", source="Orphanet:47159"} @@ -153208,7 +153177,7 @@ xref: OMIM:179840 {source="MONDO:equivalentTo"} xref: Orphanet:99002 {source="MONDO:subClassOf", source="OMIM:179840"} xref: SCTID:723502001 {source="MONDO:equivalentTo"} xref: UMLS:C1867332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:179840"} -is_a: MONDO:0009979 {source="ORDO:99002/btnt"} ! reticular dystrophy of the retinal pigment epithelium +is_a: MONDO:0009979 {source="Orphanet:99002/btnt"} ! reticular dystrophy of the retinal pigment epithelium property_value: confidence "0.26984126984126955" xsd:double [Term] @@ -153224,13 +153193,13 @@ synonym: "Dowling-Degos Kitamura disease" RELATED [GARD:0009775] synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:79145] xref: DOID:0060256 {source="MONDO:equivalentTo"} xref: GARD:0009775 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L81.8 {source="ORDO:79145/attributed", source="ORDO:79145/ntbt", source="Orphanet:79145"} -xref: MedDRA:10068651 {source="ORDO:79145/e", source="Orphanet:79145"} +xref: ICD10CM:L81.8 {source="Orphanet:79145/attributed", source="Orphanet:79145/ntbt", source="Orphanet:79145"} +xref: MedDRA:10068651 {source="Orphanet:79145/e", source="Orphanet:79145"} xref: MESH:C562924 {source="DOID:0060256", source="MONDO:equivalentTo"} -xref: OMIM:179850 {source="DOID:0060256", source="MONDO:superClassOf", source="ORDO:79145/e", source="Orphanet:79145"} -xref: OMIM:615327 {source="ORDO:79145/btnt", source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145"} -xref: OMIM:615674 {source="ORDO:79145/btnt", source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145"} -xref: OMIM:615696 {source="ORDO:79145/btnt", source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145"} +xref: OMIM:179850 {source="Orphanet:79145/e", source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145"} +xref: OMIM:615327 {source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145/btnt", source="Orphanet:79145"} +xref: OMIM:615674 {source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145/btnt", source="Orphanet:79145"} +xref: OMIM:615696 {source="DOID:0060256", source="MONDO:superClassOf", source="Orphanet:79145/btnt", source="Orphanet:79145"} xref: Orphanet:79145 {source="DOID:0060256", source="MONDO:equivalentTo", source="OMIM:179850"} xref: SCTID:239133004 {source="DOID:0060256", source="MONDO:directSiblingOf"} xref: UMLS:C0406811 {source="DOID:0060256", source="MONDO:notFoundInDiseaseSubset"} @@ -153268,8 +153237,8 @@ synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orpha synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326] xref: DOID:0111547 {source="MONDO:equivalentTo"} xref: HP:0001136 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q14.1 {source="Orphanet:75326", source="ORDO:75326/inclusion", source="ORDO:75326/ntbt"} -xref: OMIM:180000 {source="ORDO:75326/e", source="Orphanet:75326", source="MONDO:equivalentTo"} +xref: ICD10CM:Q14.1 {source="Orphanet:75326/ntbt", source="Orphanet:75326/inclusion", source="Orphanet:75326"} +xref: OMIM:180000 {source="Orphanet:75326", source="MONDO:equivalentTo", source="Orphanet:75326/e"} xref: Orphanet:75326 {source="MONDO:equivalentTo", source="OMIM:180000"} xref: UMLS:C1867327 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:180000"} is_a: MONDO:0000473 {source="DOID:0111547"} ! arterial disorder @@ -153409,13 +153378,13 @@ synonym: "retinoblastoma" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma, malignant" EXACT [NCIT:C7541] xref: DOID:768 {source="MONDO:equivalentTo"} xref: GARD:0007563 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C69.2 {source="ORDO:790/e", source="Orphanet:790", source="ORDO:790/specific"} +xref: ICD10CM:C69.2 {source="Orphanet:790/e", source="Orphanet:790/specific", source="Orphanet:790"} xref: ICDO:9510/3 {source="NCIT:C7541"} -xref: MedDRA:10038916 {source="ORDO:790/e", source="Orphanet:790"} -xref: MESH:D012175 {source="DOID:768", source="MONDO:equivalentTo", source="ORDO:790/e", source="Orphanet:790"} +xref: MedDRA:10038916 {source="Orphanet:790/e", source="Orphanet:790"} +xref: MESH:D012175 {source="Orphanet:790/e", source="DOID:768", source="MONDO:equivalentTo", source="Orphanet:790"} xref: NCIT:C6956 {source="MONDO:relatedTo", source="DOID:768"} xref: NCIT:C7541 {source="DOID:768", source="MONDO:equivalentTo"} -xref: OMIM:180200 {source="DOID:768", source="ORDO:790/e", source="MONDO:superClassOf", source="Orphanet:790"} +xref: OMIM:180200 {source="Orphanet:790/e", source="DOID:768", source="MONDO:superClassOf", source="Orphanet:790"} xref: ONCOTREE:RBL {source="MONDO:equivalentTo"} xref: Orphanet:790 {source="OMIM:180200", source="MONDO:equivalentTo"} xref: SCTID:134191003 {source="DOID:768"} @@ -153425,7 +153394,7 @@ xref: SCTID:189935007 {source="DOID:768"} xref: SCTID:19906005 {source="DOID:768"} xref: SCTID:269614001 {source="DOID:768"} xref: SCTID:370967009 {source="DOID:768", source="MONDO:equivalentTo"} -xref: UMLS:C0035335 {source="NCIT:C7541", source="DOID:768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:790/e", source="Orphanet:790"} +xref: UMLS:C0035335 {source="Orphanet:790/e", source="NCIT:C7541", source="DOID:768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:790"} xref: UMLS:C0080113 {source="OMIM:180200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003072 {source="DOID:768/inferred", source="MESH:D012175", source="MONDO:Redundant", source="NCIT:C7541", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! retinal cancer is_a: MONDO:0004338 {source="DOID:768", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinal cell cancer @@ -153573,12 +153542,12 @@ synonym: "ring dermoid of cornea" EXACT [MONDO:Lexical, OMIM:180550] synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481] xref: DOID:0111548 {source="MONDO:equivalentTo"} xref: GARD:0009696 {source="MONDO:equivalentTo"} -xref: ICD10CM:D31.1 {source="Orphanet:91481", source="ORDO:91481/ntbt"} -xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="ORDO:91481/e"} -xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="ORDO:91481/e"} +xref: ICD10CM:D31.1 {source="Orphanet:91481", source="Orphanet:91481/ntbt"} +xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} +xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} xref: Orphanet:91481 {source="MONDO:equivalentTo", source="OMIM:180550"} xref: SCTID:723499000 {source="MONDO:equivalentTo"} -xref: UMLS:C1867155 {source="Orphanet:91481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180550", source="ORDO:91481/e"} +xref: UMLS:C1867155 {source="Orphanet:91481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91481/e", source="OMIM:180550"} is_a: MONDO:0021220 {source="MONDO:Entailed", source="Orphanet:91481"} ! eye neoplasm relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9005 {source="mim2gene_medgen"} ! PITX2 relationship: has_modifier MONDO:0021136 {source="MONDO:0015121"} ! rare @@ -153593,12 +153562,12 @@ subset: ordo_disease {source="Orphanet:169"} synonym: "pili annulati" EXACT [OMIM:180600, Orphanet:169] synonym: "ringed hair" RELATED [OMIM:180600] xref: GARD:0004359 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q84.1 {source="Orphanet:169", source="ORDO:169/index", source="ORDO:169/ntbt"} -xref: MESH:C537187 {source="Orphanet:169", source="MONDO:equivalentTo", source="ORDO:169/e"} -xref: OMIM:180600 {source="Orphanet:169", source="MONDO:equivalentTo", source="ORDO:169/e"} +xref: ICD10CM:Q84.1 {source="Orphanet:169", source="Orphanet:169/index", source="Orphanet:169/ntbt"} +xref: MESH:C537187 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"} +xref: OMIM:180600 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"} xref: Orphanet:169 {source="OMIM:180600", source="MONDO:equivalentTo"} xref: SCTID:21926007 {source="MONDO:equivalentTo"} -xref: UMLS:C0263489 {source="Orphanet:169", source="NCBI:mim2gene_medline", source="OMIM:180600", source="MONDO:equivalentTo", source="ORDO:169/e"} +xref: UMLS:C0263489 {source="Orphanet:169", source="NCBI:mim2gene_medline", source="OMIM:180600", source="MONDO:equivalentTo", source="Orphanet:169/e"} is_a: MONDO:0019281 {source="Orphanet:169"} ! isolated genetic hair shaft abnormality property_value: confidence "3.7222222222222223" xsd:double @@ -153610,11 +153579,11 @@ subset: ordo_clinical_subtype {source="Orphanet:3107"} synonym: "autosomal dominant Robinow syndrome" EXACT CLINGEN_PREFERRED [Orphanet:3107] synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1] -xref: ICD10CM:Q87.1 {source="ORDO:3107/attributed", source="ORDO:3107/ntbt", source="Orphanet:3107", source="DOID:0060766"} +xref: ICD10CM:Q87.1 {source="Orphanet:3107", source="DOID:0060766", source="Orphanet:3107/attributed", source="Orphanet:3107/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:180700 {source="Orphanet:3107", source="MONDO:superClassOf", source="ORDO:3107/e"} -xref: OMIM:616331 {source="ORDO:3107/btnt", source="Orphanet:3107", source="MONDO:superClassOf"} -xref: OMIM:616894 {source="ORDO:3107/btnt", source="Orphanet:3107", source="MONDO:superClassOf"} +xref: OMIM:180700 {source="Orphanet:3107", source="MONDO:superClassOf", source="Orphanet:3107/e"} +xref: OMIM:616331 {source="Orphanet:3107", source="MONDO:superClassOf", source="Orphanet:3107/btnt"} +xref: OMIM:616894 {source="Orphanet:3107", source="MONDO:superClassOf", source="Orphanet:3107/btnt"} xref: Orphanet:3107 {source="OMIM:180700", source="MONDO:equivalentTo", source="DOID:0060766"} xref: Orphanet:97360 {source="MONDO:subClassOf", source="OMIM:180700", source="DOID:0060766"} xref: SCTID:76520005 {source="MONDO:equivalentTo"} @@ -153634,12 +153603,12 @@ subset: ordo_disease {source="Orphanet:3110"} synonym: "Rombo syndrome" EXACT [OMIM:180730] synonym: "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" RELATED [GARD:0004738] xref: GARD:0004738 {source="MONDO:equivalentTo"} -xref: ICD10CM:L98.8 {source="ORDO:3110/attributed", source="ORDO:3110/ntbt", source="Orphanet:3110"} -xref: MESH:C535870 {source="MONDO:equivalentTo", source="Orphanet:3110", source="ORDO:3110/e"} -xref: OMIM:180730 {source="MONDO:equivalentTo", source="Orphanet:3110", source="ORDO:3110/e"} +xref: ICD10CM:L98.8 {source="Orphanet:3110/attributed", source="Orphanet:3110/ntbt", source="Orphanet:3110"} +xref: MESH:C535870 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"} +xref: OMIM:180730 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"} xref: Orphanet:3110 {source="OMIM:180730", source="MONDO:equivalentTo"} xref: SCTID:721904001 {source="MONDO:equivalentTo"} -xref: UMLS:C1867147 {source="OMIM:180730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3110", source="ORDO:3110/e"} +xref: UMLS:C1867147 {source="OMIM:180730", source="Orphanet:3110/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3110"} is_a: MONDO:0015950 {source="Orphanet:3110", source="indirect"} ! inherited skin tumor relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:3110"} ! obsolete rare skin tumor or hamartoma property_value: confidence "4.277777777777778" xsd:double @@ -153677,12 +153646,12 @@ synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [OMIM:180800] synonym: "Roussy-levy syndrome" EXACT [OMIM:180800] synonym: "Roussy-Lévy syndrome" RELATED [Orphanet:3115] xref: GARD:0004741 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:3115", source="ORDO:3115/attributed", source="ORDO:3115/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:3115/attributed", source="Orphanet:3115/ntbt", source="Orphanet:3115"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:180800 {source="ORDO:3115/e", source="Orphanet:3115", source="MONDO:equivalentTo"} +xref: OMIM:180800 {source="Orphanet:3115", source="MONDO:equivalentTo", source="Orphanet:3115/e"} xref: Orphanet:3115 {source="MONDO:equivalentTo", source="OMIM:180800"} xref: SCTID:45853006 {source="MONDO:equivalentTo"} -xref: UMLS:C0205713 {source="ORDO:3115/e", source="NCBI:mim2gene_medline", source="Orphanet:3115", source="MONDO:notFoundInDiseaseSubset", source="OMIM:180800"} +xref: UMLS:C0205713 {source="NCBI:mim2gene_medline", source="Orphanet:3115", source="MONDO:notFoundInDiseaseSubset", source="OMIM:180800", source="Orphanet:3115/e"} is_a: MONDO:0015359 {source="Orphanet:3115"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy property_value: confidence "3.533333333333334" xsd:double @@ -153702,9 +153671,9 @@ synonym: "Rubinstein-Taybi syndrome 1" EXACT [MONDO:Lexical, OMIM:180849] synonym: "Rubinstein-Taybi syndrome caused by mutation in CREBBP" EXACT [] synonym: "Rubinstein-Taybi syndrome due to CREBBP mutations" EXACT CLINGEN_PREFERRED [] synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, OMIM:180849] -xref: ICD10CM:Q87.2 {source="Orphanet:353277", source="ORDO:353277/attributed", source="ORDO:353277/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:353277", source="Orphanet:353277/attributed", source="Orphanet:353277/ntbt"} xref: NCIT:C153290 {source="MONDO:equivalentTo"} -xref: OMIM:180849 {source="Orphanet:353277", source="ORDO:353277/e", source="MONDO:equivalentTo"} +xref: OMIM:180849 {source="Orphanet:353277", source="MONDO:equivalentTo", source="Orphanet:353277/e"} xref: Orphanet:353277 {source="MONDO:equivalentTo", source="OMIM:180849"} xref: Orphanet:783 {source="MONDO:subClassOf", source="OMIM:180849"} xref: UMLS:C0035934 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:180849"} @@ -153730,17 +153699,17 @@ synonym: "Silver-Russell syndrome" EXACT [MONDO:Lexical, OMIM:180860] synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180860] xref: DOID:14681 {source="MONDO:equivalentTo"} xref: GARD:0004870 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="DOID:14681", source="Orphanet:813", source="ORDO:813/ntbt", source="ORDO:813/inclusion"} +xref: ICD10CM:Q87.1 {source="Orphanet:813/inclusion", source="DOID:14681", source="Orphanet:813", source="Orphanet:813/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062282 {source="ORDO:813/e", source="Orphanet:813"} -xref: MESH:D056730 {source="ORDO:813/e", source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813"} +xref: MedDRA:10062282 {source="Orphanet:813", source="Orphanet:813/e"} +xref: MESH:D056730 {source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="Orphanet:813/e"} xref: NCIT:C85068 {source="DOID:14681", source="MONDO:equivalentTo"} -xref: OMIM:312780 {source="MONDO:superClassOf", source="Orphanet:813", source="ORDO:813/btnt"} +xref: OMIM:312780 {source="MONDO:superClassOf", source="Orphanet:813", source="Orphanet:813/btnt"} xref: OMIM:616489 {source="MONDO:superClassOf", source="Orphanet:813"} xref: OMIMPS:180860 {source="MONDO:equivalentTo"} xref: Orphanet:813 {source="OMIM:180860", source="MONDO:equivalentTo"} xref: SCTID:15069006 {source="DOID:14681", source="MONDO:equivalentTo"} -xref: UMLS:C0175693 {source="OMIM:180860", source="ORDO:813/e", source="NCBI:mim2gene_medline", source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="NCIT:C85068"} +xref: UMLS:C0175693 {source="OMIM:180860", source="NCBI:mim2gene_medline", source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="NCIT:C85068", source="Orphanet:813/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85068", source="indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:813", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019040 {source="DOID:14681", source="MESH:D056730"} ! chromosomal disorder @@ -153757,13 +153726,13 @@ subset: gard_rare {source="GARD:0004748"} subset: ordo_malformation_syndrome {source="Orphanet:3121"} synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870] xref: GARD:0004748 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3121/attributed", source="ORDO:3121/ntbt", source="Orphanet:3121"} +xref: ICD10CM:Q87.8 {source="Orphanet:3121/attributed", source="Orphanet:3121/ntbt", source="Orphanet:3121"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C579395 {source="MONDO:equivalentTo"} -xref: OMIM:180870 {source="MONDO:equivalentTo", source="Orphanet:3121", source="ORDO:3121/e"} +xref: OMIM:180870 {source="Orphanet:3121/e", source="MONDO:equivalentTo", source="Orphanet:3121"} xref: Orphanet:3121 {source="MONDO:equivalentTo", source="OMIM:180870"} xref: SCTID:3073006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265248 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180870", source="Orphanet:3121", source="ORDO:3121/e"} +xref: UMLS:C0265248 {source="Orphanet:3121/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180870", source="Orphanet:3121"} is_a: MONDO:0015159 {source="Orphanet:3121"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:3121"} ! X-linked syndromic intellectual disability property_value: confidence "8.375" xsd:double @@ -153782,13 +153751,13 @@ synonym: "gingival Hypertrophy with corneal dystrophy" EXACT [OMIM:180900] synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709] synonym: "Rutherfurd syndrome" EXACT [OMIM:180900, Orphanet:2709] xref: GARD:0000212 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2709", source="ORDO:2709/attributed", source="ORDO:2709/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2709", source="Orphanet:2709/attributed", source="Orphanet:2709/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="ORDO:2709/e"} -xref: OMIM:180900 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="ORDO:2709/e"} +xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="Orphanet:2709/e"} +xref: OMIM:180900 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="Orphanet:2709/e"} xref: Orphanet:2709 {source="GARD:0000212", source="MONDO:equivalentTo", source="OMIM:180900"} xref: SCTID:699754008 {source="MONDO:equivalentTo"} -xref: UMLS:C0796140 {source="Orphanet:2709", source="GARD:0000212", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180900", source="ORDO:2709/e"} +xref: UMLS:C0796140 {source="Orphanet:2709", source="GARD:0000212", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:180900", source="Orphanet:2709/e"} is_a: MONDO:0020215 {source="Orphanet:2709"} ! syndromic corneal dystrophy is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2709", source="Orphanet:2709/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -153806,9 +153775,9 @@ synonym: "parotid aplasia or hypoplasia" RELATED [OMIM:180920] synonym: "salivary glands, absence of" RELATED [OMIM:180920] synonym: "salivary glands, absence of, include" RELATED [OMIM:180920] xref: DOID:0111549 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q10.4 {source="ORDO:86815/nd", source="ORDO:86815/attributed", source="Orphanet:86815"} -xref: ICD10CM:Q38.4 {source="ORDO:86815/nd", source="ORDO:86815/attributed", source="Orphanet:86815"} -xref: OMIM:180920 {source="MONDO:equivalentTo", source="ORDO:86815/e", source="Orphanet:86815"} +xref: ICD10CM:Q10.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"} +xref: ICD10CM:Q38.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"} +xref: OMIM:180920 {source="Orphanet:86815/e", source="MONDO:equivalentTo", source="Orphanet:86815"} xref: Orphanet:86815 {source="OMIM:180920", source="MONDO:equivalentTo"} xref: SCTID:715656004 {source="MONDO:equivalentTo"} xref: UMLS:C0158667 {source="OMIM:180920", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86815"} @@ -153877,12 +153846,12 @@ synonym: "Sgpa" RELATED [OMIM:181030] synonym: "tumor, mixed, benign" EXACT [NCIT:C8602] xref: DOID:452 {source="MONDO:equivalentTo"} xref: EFO:1000384 {source="MONDO:equivalentTo"} -xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="ORDO:454821/ntbt", source="Orphanet:454821"} +xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:454821", source="Orphanet:454821/ntbt"} xref: ICDO:8940/0 {source="NCIT:C8602"} xref: MESH:D008949 {source="MONDO:equivalentTo", source="DOID:452"} xref: NCIT:C35691 {source="DOID:452"} xref: NCIT:C8602 {source="MONDO:equivalentTo", source="DOID:452"} -xref: OMIM:181030 {source="ORDO:454821/e", source="MONDO:equivalentTo", source="Orphanet:454821", source="DOID:452"} +xref: OMIM:181030 {source="MONDO:equivalentTo", source="Orphanet:454821", source="DOID:452", source="Orphanet:454821/e"} xref: Orphanet:454821 {source="MONDO:equivalentTo"} xref: SCTID:447888006 {source="MONDO:equivalentTo"} xref: SCTID:8360001 {source="DOID:452"} @@ -153907,12 +153876,12 @@ synonym: "Say Barber Hobbs syndrome" RELATED [GARD:0000162] synonym: "SAY syndrome" RELATED [OMIM:181180] synonym: "Say-Barber-Hobbs syndrome" EXACT [Orphanet:2013] xref: GARD:0000162 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2013", source="ORDO:2013/attributed", source="ORDO:2013/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2013/attributed", source="Orphanet:2013/ntbt", source="Orphanet:2013"} xref: MESH:C536621 {source="MONDO:equivalentTo"} -xref: OMIM:181180 {source="ORDO:2013/e", source="Orphanet:2013", source="MONDO:equivalentTo", source="GARD:0000162"} +xref: OMIM:181180 {source="Orphanet:2013", source="MONDO:equivalentTo", source="Orphanet:2013/e", source="GARD:0000162"} xref: Orphanet:2013 {source="MONDO:equivalentTo", source="OMIM:181180", source="GARD:0000162"} xref: SCTID:763130006 {source="MONDO:equivalentTo"} -xref: UMLS:C1867023 {source="ORDO:2013/e", source="Orphanet:2013", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181180", source="GARD:0000162"} +xref: UMLS:C1867023 {source="Orphanet:2013", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181180", source="Orphanet:2013/e", source="GARD:0000162"} is_a: MONDO:0015335 {source="Orphanet:2013"} ! orofacial clefting syndrome property_value: confidence "8.6" xsd:double @@ -153925,11 +153894,11 @@ synonym: "congenital scalp defects associated with postaxial polydactyly" RELATE synonym: "scalp defects and postaxial polydactyly" RELATED [OMIM:181250] synonym: "scalp defects postaxial polydactyly" RELATED [GARD:0000241] xref: GARD:0000241 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:1003", source="ORDO:1003/attributed", source="ORDO:1003/ntbt"} -xref: MESH:C536622 {source="ORDO:1003/e", source="Orphanet:1003", source="MONDO:equivalentTo"} -xref: OMIM:181250 {source="ORDO:1003/e", source="Orphanet:1003", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:1003/attributed", source="Orphanet:1003/ntbt", source="Orphanet:1003"} +xref: MESH:C536622 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"} +xref: OMIM:181250 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"} xref: Orphanet:1003 {source="MONDO:equivalentTo", source="OMIM:181250"} -xref: UMLS:C1867021 {source="ORDO:1003/e", source="NCBI:mim2gene_medline", source="Orphanet:1003", source="MONDO:equivalentTo", source="OMIM:181250"} +xref: UMLS:C1867021 {source="NCBI:mim2gene_medline", source="Orphanet:1003", source="MONDO:equivalentTo", source="OMIM:181250", source="Orphanet:1003/e"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019294 {source="Orphanet:1003"} ! mixed dermis disorder @@ -153950,12 +153919,12 @@ synonym: "Sen syndrome" RELATED [GARD:0000159, OMIM:181270] synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181270] xref: DOID:0111550 {source="MONDO:equivalentTo"} xref: GARD:0000159 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2036", source="ORDO:2036/attributed", source="ORDO:2036/ntbt"} -xref: MESH:C536623 {source="Orphanet:2036", source="ORDO:2036/e", source="MONDO:equivalentTo"} -xref: OMIM:181270 {source="Orphanet:2036", source="ORDO:2036/e", source="MONDO:equivalentTo", source="GARD:0000159"} +xref: ICD10CM:Q87.8 {source="Orphanet:2036", source="Orphanet:2036/attributed", source="Orphanet:2036/ntbt"} +xref: MESH:C536623 {source="Orphanet:2036", source="MONDO:equivalentTo", source="Orphanet:2036/e"} +xref: OMIM:181270 {source="Orphanet:2036", source="MONDO:equivalentTo", source="GARD:0000159", source="Orphanet:2036/e"} xref: Orphanet:2036 {source="MONDO:equivalentTo", source="GARD:0000159", source="OMIM:181270"} xref: SCTID:721888002 {source="MONDO:equivalentTo"} -xref: UMLS:C1867020 {source="Orphanet:2036", source="ORDO:2036/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:181270"} +xref: UMLS:C1867020 {source="Orphanet:2036", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2036/e", source="OMIM:181270"} is_a: MONDO:0015161 {source="Orphanet:2036", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015853 {source="Orphanet:2036"} ! deficient breast volume or number is_a: MONDO:0019287 {source="Orphanet:2036", source="linkedlifedata"} ! ectodermal dysplasia syndrome @@ -153982,13 +153951,13 @@ def: "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." [MONDO:pat subset: ordo_etiological_subtype {source="Orphanet:98855"} synonym: "EDMD3" EXACT ABBREVIATION [Orphanet:98855] synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98855", source="ORDO:98855/attributed", source="ORDO:98855/ntbt"} -xref: MESH:D020389 {source="MONDO:subClassOf", source="ORDO:98855/e", source="Orphanet:98855"} -xref: OMIM:616516 {source="Orphanet:98855", source="MONDO:superClassOf", source="ORDO:98855/btnt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98855/attributed", source="Orphanet:98855/ntbt", source="Orphanet:98855"} +xref: MESH:D020389 {source="MONDO:subClassOf", source="Orphanet:98855", source="Orphanet:98855/e"} +xref: OMIM:616516 {source="Orphanet:98855/btnt", source="Orphanet:98855", source="MONDO:superClassOf"} xref: Orphanet:98855 {source="MONDO:equivalentTo"} -xref: UMLS:C1450051 {source="ORDO:98855/e", source="Orphanet:98855", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1450051 {source="Orphanet:98855", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98855/e"} xref: UMLS:C2750035 {source="Orphanet:98855", source="MONDO:superClassOf"} -is_a: MONDO:0016830 {source="MONDO:Redundant", source="ORDO:261/btnt", source="Orphanet:98855"} ! Emery-Dreifuss muscular dystrophy +is_a: MONDO:0016830 {source="MONDO:Redundant", source="Orphanet:261/btnt", source="Orphanet:98855"} ! Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0016830 ! Emery-Dreifuss muscular dystrophy intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -154004,9 +153973,9 @@ synonym: "SCPNK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181400] synonym: "stark-Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] xref: DOID:0111551 {source="MONDO:equivalentTo"} xref: GARD:0010312 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.1 {source="Orphanet:85146", source="ORDO:85146/inclusion", source="ORDO:85146/ntbt"} +xref: ICD10CM:G12.1 {source="Orphanet:85146/ntbt", source="Orphanet:85146", source="Orphanet:85146/inclusion"} xref: MESH:C566695 {source="MONDO:equivalentTo"} -xref: OMIM:181400 {source="Orphanet:85146", source="MONDO:equivalentTo", source="ORDO:85146/e"} +xref: OMIM:181400 {source="Orphanet:85146", source="MONDO:equivalentTo", source="Orphanet:85146/e"} xref: Orphanet:85146 {source="OMIM:181400", source="MONDO:equivalentTo"} xref: UMLS:C1867005 {source="OMIM:181400", source="Orphanet:85146", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016187 {source="Orphanet:85146"} ! qualitative or quantitative defects of desmin @@ -154027,9 +153996,9 @@ synonym: "SPSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181405, Orphanet:431255 xref: DOID:0111552 {source="MONDO:equivalentTo"} xref: EFO:1001992 {source="MONDO:equivalentTo"} xref: GARD:0010314 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G12.1 {source="Orphanet:431255", source="ORDO:431255/inclusion", source="ORDO:431255/ntbt"} +xref: ICD10CM:G12.1 {source="Orphanet:431255/ntbt", source="Orphanet:431255", source="Orphanet:431255/inclusion"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:181405 {source="ORDO:431255/e", source="Orphanet:431255", source="MONDO:equivalentTo"} +xref: OMIM:181405 {source="Orphanet:431255", source="MONDO:equivalentTo", source="Orphanet:431255/e"} xref: Orphanet:431255 {source="MONDO:equivalentTo", source="OMIM:181405"} xref: SCTID:230248006 {source="MONDO:equivalentTo"} xref: UMLS:C0751335 {source="Orphanet:431255", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:181405"} @@ -154051,8 +154020,8 @@ synonym: "scapuloperoneal syndrome, myopathic type" RELATED [OMIM:181430] synonym: "SPMD" RELATED ABBREVIATION [GARD:0010313] synonym: "SPMM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181430] xref: GARD:0010313 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:437572/attributed", source="ORDO:437572/ntbt", source="Orphanet:437572"} -xref: OMIM:181430 {source="MONDO:equivalentTo", source="ORDO:437572/e", source="Orphanet:437572"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:437572/attributed", source="Orphanet:437572/ntbt", source="Orphanet:437572"} +xref: OMIM:181430 {source="Orphanet:437572/e", source="MONDO:equivalentTo", source="Orphanet:437572"} xref: Orphanet:437572 {source="MONDO:equivalentTo"} xref: SCTID:129620000 {source="MONDO:equivalentTo"} xref: UMLS:C0751337 {source="MONDO:subClassOf", source="OMIM:181430"} @@ -154088,12 +154057,12 @@ synonym: "spinal Osteochondrosis" RELATED [OMIM:181440] xref: DOID:13300 {source="MONDO:equivalentTo"} xref: EFO:0008576 {source="MONDO:equivalentTo"} xref: GARD:0007610 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M42.0 {source="Orphanet:3135", source="ORDO:3135/attributed", source="ORDO:3135/ntbt", source="DOID:13300"} +xref: ICD10CM:M42.0 {source="Orphanet:3135/attributed", source="Orphanet:3135/ntbt", source="Orphanet:3135", source="DOID:13300"} xref: ICD10CM:M42.00 {source="DOID:13300"} xref: ICD9:732.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:13300"} xref: MESH:D012544 {source="DOID:13300"} xref: NCIT:C34999 {source="MONDO:equivalentTo", source="DOID:13300"} -xref: OMIM:181440 {source="ORDO:3135/e", source="Orphanet:3135", source="MONDO:equivalentTo", source="DOID:13300"} +xref: OMIM:181440 {source="Orphanet:3135", source="MONDO:equivalentTo", source="Orphanet:3135/e", source="DOID:13300"} xref: Orphanet:3135 {source="MONDO:equivalentTo", source="OMIM:181440"} xref: SCTID:156816000 {source="DOID:13300"} xref: SCTID:203361005 {source="DOID:13300"} @@ -154120,13 +154089,13 @@ synonym: "ulnar-mammary syndrome of Pallister" RELATED [GARD:0000118] synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138] xref: DOID:0060614 {source="MONDO:equivalentTo"} xref: GARD:0000118 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q71.8 {source="Orphanet:3138", source="ORDO:3138/attributed", source="ORDO:3138/ntbt", source="DOID:0060614"} +xref: ICD10CM:Q71.8 {source="Orphanet:3138/attributed", source="Orphanet:3138/ntbt", source="Orphanet:3138", source="DOID:0060614"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536937 {source="Orphanet:3138", source="ORDO:3138/e", source="MONDO:equivalentTo", source="DOID:0060614"} -xref: OMIM:181450 {source="Orphanet:3138", source="ORDO:3138/e", source="MONDO:equivalentTo", source="DOID:0060614"} +xref: MESH:C536937 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"} +xref: OMIM:181450 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"} xref: Orphanet:3138 {source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"} xref: SCTID:700211007 {source="MONDO:equivalentTo"} -xref: UMLS:C1866994 {source="Orphanet:3138", source="NCBI:mim2gene_medline", source="ORDO:3138/e", source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"} +xref: UMLS:C1866994 {source="Orphanet:3138", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614", source="OMIM:181450"} is_a: MONDO:0015160 {source="Orphanet:3138", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015246 {source="Orphanet:3138"} ! syndromic anorectal malformation is_a: MONDO:0015853 {source="Orphanet:3138"} ! deficient breast volume or number @@ -154222,10 +154191,10 @@ synonym: "SCLEROTYLOSIS" RELATED ABBREVIATION [OMIM:181600] synonym: "Sclerotylosis" EXACT [Orphanet:384] synonym: "Tys" RELATED [OMIM:181600] xref: GARD:0008517 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:384/attributed", source="ORDO:384/ntbt", source="Orphanet:384"} +xref: ICD10CM:Q82.8 {source="Orphanet:384", source="Orphanet:384/attributed", source="Orphanet:384/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537526 {source="MONDO:equivalentTo"} -xref: OMIM:181600 {source="MONDO:equivalentTo", source="ORDO:384/e", source="Orphanet:384"} +xref: OMIM:181600 {source="Orphanet:384/e", source="MONDO:equivalentTo", source="Orphanet:384"} xref: Orphanet:384 {source="OMIM:181600", source="MONDO:equivalentTo"} xref: SCTID:239076000 {source="MONDO:equivalentTo"} xref: UMLS:C0406767 {source="OMIM:181600", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:384"} @@ -154241,7 +154210,7 @@ xref: MESH:C566692 {source="MONDO:equivalentTo"} xref: OMIM:181700 {source="MONDO:equivalentTo"} xref: Orphanet:91490 {source="MONDO:subClassOf", source="OMIM:181700"} xref: UMLS:C1866984 {source="NCBI:mim2gene_medline", source="OMIM:181700", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019629 {source="ORDO:91490/btnt"} ! sclerocornea +is_a: MONDO:0019629 {source="Orphanet:91490/btnt"} ! sclerocornea property_value: confidence "3.0" xsd:double [Term] @@ -154255,7 +154224,7 @@ xref: Orphanet:90290 {source="MONDO:superClassOf", source="MONDO:directSiblingOf xref: Orphanet:90291 {source="MONDO:subClassOf", source="OMIM:181750"} xref: UMLS:C0206138 {source="MONDO:directSiblingOf", source="OMIM:181750"} xref: UMLS:C1866983 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:181750"} -is_a: MONDO:0005100 {source="OMIM:181750", source="ORDO:90291/btnt"} ! systemic sclerosis +is_a: MONDO:0005100 {source="OMIM:181750", source="Orphanet:90291/btnt"} ! systemic sclerosis property_value: confidence "1.4166666666666665" xsd:double [Term] @@ -154316,11 +154285,11 @@ synonym: "Simosa cranio facial syndrome" RELATED [GARD:0004873] synonym: "SIMOSA craniofacial syndrome" RELATED [OMIM:182150] synonym: "Simosa-Penchaszadeh-Bustos syndrome" EXACT [Orphanet:1968] xref: GARD:0004873 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:1968/attributed", source="ORDO:1968/ntbt", source="Orphanet:1968"} +xref: ICD10CM:Q87.0 {source="Orphanet:1968/attributed", source="Orphanet:1968/ntbt", source="Orphanet:1968"} xref: MESH:C537339 {source="MONDO:equivalentTo"} -xref: OMIM:182150 {source="MONDO:equivalentTo", source="ORDO:1968/e", source="Orphanet:1968"} +xref: OMIM:182150 {source="Orphanet:1968/e", source="MONDO:equivalentTo", source="Orphanet:1968"} xref: Orphanet:1968 {source="MONDO:equivalentTo", source="OMIM:182150"} -xref: UMLS:C1866962 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182150", source="ORDO:1968/e", source="Orphanet:1968"} +xref: UMLS:C1866962 {source="Orphanet:1968/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182150", source="Orphanet:1968"} is_a: MONDO:0015161 {source="Orphanet:1968", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1968", source="Orphanet:1968/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:1968"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -154357,7 +154326,7 @@ xref: MESH:C566690 {source="MONDO:equivalentTo"} xref: OMIM:182190 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="MONDO:subClassOf", source="OMIM:182190"} xref: UMLS:C1866960 {source="NCBI:mim2gene_medline", source="OMIM:182190", source="MONDO:equivalentTo"} -is_a: MONDO:0012061 {source="ORDO:166282/btnt"} ! familial sick sinus syndrome +is_a: MONDO:0012061 {source="Orphanet:166282/btnt"} ! familial sick sinus syndrome property_value: confidence "1.1441176470588235" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia xsd:anyURI {source="GARD:0004880"} @@ -154382,9 +154351,9 @@ synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [OMIM:182210] synonym: "Shprintzen omphalocele syndrome" RELATED [OMIM:182210] synonym: "Shprintzen-Goldberg omphalocele syndrome" RELATED [GARD:0009850] xref: GARD:0009850 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.2 {source="ORDO:3164/attributed", source="ORDO:3164/ntbt", source="Orphanet:3164"} +xref: ICD10CM:Q79.2 {source="Orphanet:3164/attributed", source="Orphanet:3164/ntbt", source="Orphanet:3164"} xref: MESH:C537329 {source="MONDO:equivalentTo"} -xref: OMIM:182210 {source="MONDO:equivalentTo", source="ORDO:3164/e", source="Orphanet:3164"} +xref: OMIM:182210 {source="Orphanet:3164/e", source="MONDO:equivalentTo", source="Orphanet:3164"} xref: Orphanet:3164 {source="MONDO:equivalentTo", source="OMIM:182210"} xref: SCTID:716230005 {source="MONDO:equivalentTo"} xref: UMLS:C1866958 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182210", source="Orphanet:3164"} @@ -154410,13 +154379,13 @@ synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical, synonym: "Shprintzen-Goldberg marfanoid syndrome" RELATED [GARD:0004861] synonym: "Shprintzen-Goldberg syndrome" EXACT CLINGEN_PREFERRED [] xref: GARD:0004861 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2462", source="ORDO:2462/attributed", source="ORDO:2462/ntbt"} -xref: MESH:C537328 {source="Orphanet:2462", source="ORDO:2462/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2462", source="Orphanet:2462/attributed", source="Orphanet:2462/ntbt"} +xref: MESH:C537328 {source="Orphanet:2462", source="Orphanet:2462/e"} xref: NCIT:C124840 {source="MONDO:equivalentTo"} -xref: OMIM:182212 {source="Orphanet:2462", source="MONDO:equivalentTo", source="ORDO:2462/e"} +xref: OMIM:182212 {source="Orphanet:2462", source="MONDO:equivalentTo", source="Orphanet:2462/e"} xref: Orphanet:2462 {source="MONDO:equivalentTo", source="OMIM:182212"} xref: SCTID:719069008 {source="MONDO:equivalentTo"} -xref: UMLS:C1321551 {source="Orphanet:2462", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:182212", source="ORDO:2462/e"} +xref: UMLS:C1321551 {source="Orphanet:2462", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2462/e", source="OMIM:182212"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2462", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="NCIT:C124840", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2462"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -154452,20 +154421,20 @@ synonym: "septooptic dysplasia" EXACT [OMIM:182230] synonym: "SOD" EXACT ABBREVIATION [DOID:0060857, Orphanet:3157] xref: DOID:0060857 {source="MONDO:equivalentTo"} xref: GARD:0007627 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.8 {source="Orphanet:3157", source="DOID:0060857", source="ORDO:3157/attributed", source="ORDO:3157/ntbt"} -xref: MedDRA:10067159 {source="ORDO:3157/e", source="Orphanet:3157"} -xref: MESH:D025962 {source="ORDO:3157/e", source="Orphanet:3157", source="MONDO:equivalentTo", source="DOID:0060857"} +xref: ICD10CM:Q04.8 {source="Orphanet:3157/attributed", source="Orphanet:3157/ntbt", source="Orphanet:3157", source="DOID:0060857"} +xref: MedDRA:10067159 {source="Orphanet:3157", source="Orphanet:3157/e"} +xref: MESH:D025962 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"} xref: NCIT:C85063 {source="MONDO:equivalentTo"} -xref: OMIM:182230 {source="ORDO:3157/e", source="Orphanet:3157", source="MONDO:equivalentTo", source="DOID:0060857"} +xref: OMIM:182230 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"} xref: Orphanet:3157 {source="MONDO:equivalentTo", source="DOID:0060857", source="OMIM:182230"} xref: Orphanet:95494 {source="MONDO:subClassOf", source="OMIM:182230"} xref: SCTID:7611002 {source="MONDO:equivalentTo"} xref: UMLS:C0162809 {source="Orphanet:3157", source="MONDO:directSiblingOf"} -xref: UMLS:C0338503 {source="ORDO:3157/e", source="Orphanet:3157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85063", source="DOID:0060857", source="OMIM:182230"} +xref: UMLS:C0338503 {source="Orphanet:3157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85063", source="Orphanet:3157/e", source="DOID:0060857", source="OMIM:182230"} xref: UMLS:C2750027 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:182230"} is_a: MONDO:0000429 {source="DOID:0060857"} ! autosomal genetic disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85063", source="indirect"} ! syndromic disease -is_a: MONDO:0013099 {source="OMIM:182230", source="ORDO:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form +is_a: MONDO:0013099 {source="OMIM:182230", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4877 {source="mim2gene_medgen"} ! HESX1 relationship: excluded_subClassOf MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3157"} ! obsolete syndromic developmental defect of the eye @@ -154489,11 +154458,11 @@ synonym: "SM syndrome" RELATED [GARD:0000122] synonym: "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition" RELATED [GARD:0000122] synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122] xref: GARD:0000122 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:85191/attributed", source="ORDO:85191/ntbt", source="Orphanet:85191"} +xref: ICD10CM:Q78.8 {source="Orphanet:85191", source="Orphanet:85191/attributed", source="Orphanet:85191/ntbt"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537343 {source="MONDO:equivalentTo"} -xref: OMIM:182250 {source="GARD:0000122", source="ORDO:85191/e", source="MONDO:superClassOf", source="Orphanet:85191"} -xref: OMIM:616298 {source="MONDO:superClassOf", source="ORDO:85191/btnt", source="Orphanet:85191"} +xref: OMIM:182250 {source="GARD:0000122", source="MONDO:superClassOf", source="Orphanet:85191", source="Orphanet:85191/e"} +xref: OMIM:616298 {source="MONDO:superClassOf", source="Orphanet:85191", source="Orphanet:85191/btnt"} xref: OMIMPS:182250 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="GARD:0000122", source="MONDO:equivalentTo", source="OMIM:182250"} xref: SCTID:254114000 {source="MONDO:equivalentTo"} @@ -154563,13 +154532,13 @@ xref: DOID:0050685 {source="MONDO:subClassOf", source="EFO:0000702"} xref: DOID:5409 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000702"} xref: DOID:5411 {source="MONDO:equivalentTo"} xref: EFO:0000702 {source="MONDO:equivalentTo"} -xref: ICD10CM:C34.9 {source="Orphanet:70573", source="ORDO:70573/ntbt"} +xref: ICD10CM:C34.9 {source="Orphanet:70573/ntbt", source="Orphanet:70573"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: KEGG:05222 {source="MONDO:relatedTo", source="DOID:5409"} xref: MESH:D018288 {source="DOID:5411"} xref: MESH:D055752 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} xref: NCIT:C4917 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} -xref: OMIM:182280 {source="ORDO:70573/e", source="Orphanet:70573", source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"} +xref: OMIM:182280 {source="Orphanet:70573", source="MONDO:equivalentTo", source="DOID:5409", source="Orphanet:70573/e", source="EFO:0000702"} xref: ONCOTREE:SCLC {source="MONDO:equivalentTo"} xref: Orphanet:70573 {source="MONDO:equivalentTo", source="OMIM:182280"} xref: SCTID:189555001 {source="DOID:5411"} @@ -154605,14 +154574,14 @@ synonym: "Smith-Magenis syndrome, Isolated cases" EXACT [OMIM:182290, OMIM:genem synonym: "SMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182290] xref: DOID:0060768 {source="MONDO:equivalentTo"} xref: GARD:0008197 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:819/attributed", source="ORDO:819/ntbt", source="DOID:0060768", source="Orphanet:819"} +xref: ICD10CM:Q93.5 {source="Orphanet:819/attributed", source="Orphanet:819/ntbt", source="DOID:0060768", source="Orphanet:819"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D058496 {source="MONDO:equivalentTo", source="ORDO:819/e", source="Orphanet:819"} +xref: MESH:D058496 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="Orphanet:819"} xref: NCIT:C75469 {source="MONDO:equivalentTo"} -xref: OMIM:182290 {source="MONDO:equivalentTo", source="ORDO:819/e", source="DOID:0060768", source="Orphanet:819"} +xref: OMIM:182290 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="DOID:0060768", source="Orphanet:819"} xref: Orphanet:819 {source="OMIM:182290", source="MONDO:equivalentTo", source="DOID:0060768"} xref: SCTID:401315004 {source="MONDO:equivalentTo"} -xref: UMLS:C0795864 {source="OMIM:182290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:819/e", source="Orphanet:819", source="NCIT:C75469"} +xref: UMLS:C0795864 {source="Orphanet:819/e", source="OMIM:182290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:819", source="NCIT:C75469"} xref: UMLS:C1866927 {source="OMIM:182290", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:819", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0000761 {source="DOID:0060768"} ! syndrome caused by partial chromosomal deletion @@ -154652,13 +154621,13 @@ synonym: "Sneddon's syndrome" RELATED [GARD:0007664] xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"} xref: EFO:1001186 {source="MONDO:equivalentTo"} xref: GARD:0007664 {source="MONDO:equivalentTo"} -xref: ICD10CM:I77.8 {source="Orphanet:820", source="ORDO:820/attributed", source="ORDO:820/ntbt"} -xref: MedDRA:10053841 {source="Orphanet:820", source="ORDO:820/e"} -xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="ORDO:820/e"} -xref: OMIM:182410 {source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="ORDO:820/e"} +xref: ICD10CM:I77.8 {source="Orphanet:820/attributed", source="Orphanet:820/ntbt", source="Orphanet:820"} +xref: MedDRA:10053841 {source="Orphanet:820", source="Orphanet:820/e"} +xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"} +xref: OMIM:182410 {source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"} xref: Orphanet:820 {source="MONDO:equivalentTo", source="OMIM:182410"} xref: SCTID:238776001 {source="MONDO:equivalentTo", source="DOID:13096"} -xref: UMLS:C0282492 {source="Orphanet:820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13096", source="OMIM:182410", source="ORDO:820/e"} +xref: UMLS:C0282492 {source="Orphanet:820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e", source="OMIM:182410"} is_a: MONDO:0000473 {source="DOID:13096"} ! arterial disorder is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:820"} ! vascular disorder @@ -154693,12 +154662,12 @@ synonym: "strumpell disease" EXACT [DOID:0110791] synonym: "Strümpell disease" EXACT [Orphanet:100984] xref: DOID:0110791 {source="MONDO:equivalentTo"} xref: GARD:0005041 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100984/attributed", source="ORDO:100984/ntbt", source="Orphanet:100984", source="DOID:0110791"} -xref: MESH:C536864 {source="ORDO:100984/e", source="MONDO:equivalentTo", source="Orphanet:100984"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100984", source="DOID:0110791", source="Orphanet:100984/attributed", source="Orphanet:100984/ntbt"} +xref: MESH:C536864 {source="MONDO:equivalentTo", source="Orphanet:100984", source="Orphanet:100984/e"} xref: NCIT:C142893 {source="MONDO:equivalentTo"} -xref: OMIM:182600 {source="ORDO:100984/e", source="MONDO:equivalentTo", source="Orphanet:100984", source="DOID:0110791"} +xref: OMIM:182600 {source="MONDO:equivalentTo", source="Orphanet:100984", source="DOID:0110791", source="Orphanet:100984/e"} xref: Orphanet:100984 {source="OMIM:182600", source="MONDO:equivalentTo", source="DOID:0110791"} -xref: UMLS:C2931355 {source="OMIM:182600", source="ORDO:100984/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100984"} +xref: UMLS:C2931355 {source="OMIM:182600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100984", source="Orphanet:100984/e"} is_a: MONDO:0017914 {source="Orphanet:100984"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110791", source="MESH:C536864", source="MONDO:Redundant", source="NCIT:C142893", source="OMIM:182600", source="Orphanet:100984/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia @@ -154726,13 +154695,13 @@ synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM synonym: "SPG4" EXACT ABBREVIATION [DOID:0110792, MONDO:Lexical, OMIM:182601, Orphanet:100985] xref: DOID:0110792 {source="MONDO:equivalentTo"} xref: GARD:0004925 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100985/attributed", source="ORDO:100985/ntbt", source="Orphanet:100985", source="DOID:0110792"} -xref: MESH:C536865 {source="MONDO:equivalentTo", source="Orphanet:100985", source="ORDO:100985/e"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100985", source="DOID:0110792", source="Orphanet:100985/attributed", source="Orphanet:100985/ntbt"} +xref: MESH:C536865 {source="MONDO:equivalentTo", source="Orphanet:100985", source="Orphanet:100985/e"} xref: NCIT:C129981 {source="MONDO:equivalentTo"} -xref: OMIM:182601 {source="MONDO:equivalentTo", source="Orphanet:100985", source="ORDO:100985/e", source="DOID:0110792"} +xref: OMIM:182601 {source="MONDO:equivalentTo", source="Orphanet:100985", source="DOID:0110792", source="Orphanet:100985/e"} xref: Orphanet:100985 {source="OMIM:182601", source="MONDO:equivalentTo", source="DOID:0110792"} xref: SCTID:723820001 {source="MONDO:equivalentTo"} -xref: UMLS:C1866855 {source="OMIM:182601", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100985", source="ORDO:100985/e"} +xref: UMLS:C1866855 {source="OMIM:182601", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100985", source="Orphanet:100985/e"} xref: UMLS:C4510079 {source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100985"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110792", source="MESH:C536865", source="MONDO:Redundant", source="NCIT:C129981", source="OMIM:182601", source="Orphanet:100985/inferred"} ! hereditary spastic paraplegia @@ -154753,11 +154722,11 @@ synonym: "spastic paraplegia, epilepsy, and mental retardation" RELATED DEPRECAT synonym: "SPEMR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182610, Orphanet:2816] synonym: "spemr" RELATED [GARD:0004915] xref: GARD:0004915 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:2816", source="ORDO:2816/attributed", source="ORDO:2816/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:2816/attributed", source="Orphanet:2816/ntbt", source="Orphanet:2816"} xref: MESH:C536869 {source="MONDO:equivalentTo"} -xref: OMIM:182610 {source="MONDO:equivalentTo", source="Orphanet:2816", source="ORDO:2816/e"} +xref: OMIM:182610 {source="Orphanet:2816/e", source="MONDO:equivalentTo", source="Orphanet:2816"} xref: Orphanet:2816 {source="OMIM:182610", source="MONDO:equivalentObsolete"} -xref: UMLS:C1866854 {source="OMIM:182610", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2816", source="ORDO:2816/e"} +xref: UMLS:C1866854 {source="OMIM:182610", source="Orphanet:2816/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2816"} is_a: MONDO:0000508 {source="Orphanet:2816"} ! syndromic intellectual disability is_a: MONDO:0015087 {source="Orphanet:2816"} ! autosomal dominant complex spastic paraplegia relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -154777,10 +154746,10 @@ synonym: "spastic paraplegia, sensorineural deafness, intellectual disability, a synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED DEPRECATED [OMIM:182690] xref: GARD:0002342 {source="MONDO:equivalentTo"} xref: MESH:C537937 {source="MONDO:equivalentTo"} -xref: OMIM:182690 {source="GARD:0002342", source="ORDO:2820/e", source="MONDO:equivalentTo", source="Orphanet:2820"} +xref: OMIM:182690 {source="GARD:0002342", source="MONDO:equivalentTo", source="Orphanet:2820", source="Orphanet:2820/e"} xref: Orphanet:2820 {source="GARD:0002342", source="MONDO:equivalentTo", source="OMIM:182690"} xref: UMLS:C1866853 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:182690"} -xref: UMLS:C2931667 {source="GARD:0002342", source="ORDO:2820/e", source="MONDO:equivalentTo", source="Orphanet:2820"} +xref: UMLS:C2931667 {source="GARD:0002342", source="MONDO:equivalentTo", source="Orphanet:2820", source="Orphanet:2820/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic intellectual disability is_a: MONDO:0015087 {source="Orphanet:2820"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0019589 {source="Orphanet:2820"} ! syndromic genetic hearing loss @@ -154807,10 +154776,10 @@ synonym: "familial spastic paraplegia with neuropathy and poikiloderma" RELATED synonym: "spastic paraplegia neuropathy poikiloderma" RELATED [GARD:0004921] synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [OMIM:182815] xref: GARD:0004921 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="ORDO:2821/e"} -xref: OMIM:182815 {source="MONDO:equivalentTo", source="Orphanet:2821", source="ORDO:2821/e"} +xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} +xref: OMIM:182815 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} xref: Orphanet:2821 {source="MONDO:equivalentTo", source="OMIM:182815"} -xref: UMLS:C1866851 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2821", source="ORDO:2821/e", source="OMIM:182815"} +xref: UMLS:C1866851 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2821", source="OMIM:182815", source="Orphanet:2821/e"} is_a: MONDO:0015087 {source="Orphanet:2821"} ! autosomal dominant complex spastic paraplegia property_value: confidence "3.533333333333334" xsd:double @@ -154824,10 +154793,10 @@ synonym: "familial spastic paraplegia, mental retardation, and precocious pubert synonym: "precocious puberty with spastic paraplegia" RELATED [OMIM:182820] synonym: "spastic paraplegia with precocious puberty" RELATED [OMIM:182820] xref: GARD:0004918 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: MESH:C536874 {source="MONDO:equivalentTo", source="ORDO:2826/e", source="Orphanet:2826"} -xref: OMIM:182820 {source="MONDO:equivalentTo", source="ORDO:2826/e", source="Orphanet:2826"} +xref: MESH:C536874 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} +xref: OMIM:182820 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} xref: Orphanet:2826 {source="OMIM:182820", source="MONDO:equivalentTo"} -xref: UMLS:C1866850 {source="OMIM:182820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2826/e", source="Orphanet:2826"} +xref: UMLS:C1866850 {source="OMIM:182820", source="Orphanet:2826/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2826"} is_a: MONDO:0015087 {source="Orphanet:2826"} ! autosomal dominant complex spastic paraplegia relationship: disease_has_feature MONDO:0000088 ! precocious puberty property_value: confidence "3.7222222222222223" xsd:double @@ -154850,8 +154819,8 @@ synonym: "delayed speech development, facial asymmetry, strabismus, and transver synonym: "Mehes syndrome" EXACT [Orphanet:3038] synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [OMIM:182875] xref: GARD:0003449 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:3038", source="ORDO:3038/attributed", source="ORDO:3038/ntbt"} -xref: OMIM:182875 {source="ORDO:3038/e", source="Orphanet:3038", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:3038/attributed", source="Orphanet:3038/ntbt", source="Orphanet:3038"} +xref: OMIM:182875 {source="Orphanet:3038", source="MONDO:equivalentTo", source="Orphanet:3038/e"} xref: Orphanet:3038 {source="OMIM:182875", source="MONDO:equivalentTo"} xref: SCTID:716199000 {source="MONDO:equivalentTo"} xref: UMLS:C1866802 {source="OMIM:182875", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -154902,12 +154871,12 @@ synonym: "autosomal dominant spheroid body myopathy" RELATED [GARD:0008711] synonym: "myopathy, spheroid body" RELATED [OMIM:182920] xref: DOID:0080091 {source="MONDO:equivalentTo"} xref: GARD:0008711 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="ORDO:268129/attributed", source="ORDO:268129/ntbt", source="Orphanet:268129"} +xref: ICD10CM:G71.8 {source="Orphanet:268129", source="Orphanet:268129/attributed", source="Orphanet:268129/ntbt"} xref: MESH:C000598645 {source="MONDO:equivalentTo"} -xref: OMIM:182920 {source="ORDO:268129/e", source="MONDO:equivalentTo", source="Orphanet:268129", source="DOID:0080091"} +xref: OMIM:182920 {source="MONDO:equivalentTo", source="Orphanet:268129", source="DOID:0080091", source="Orphanet:268129/e"} xref: Orphanet:268129 {source="OMIM:182920", source="MONDO:equivalentTo"} xref: SCTID:765092004 {source="MONDO:equivalentTo"} -xref: UMLS:C1866785 {source="OMIM:182920", source="ORDO:268129/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:268129"} +xref: UMLS:C1866785 {source="OMIM:182920", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:268129", source="Orphanet:268129/e"} is_a: MONDO:0002921 {source="MESH:C000598645", source="MONDO:Redundant", source="OMIM:182920/inferred"} ! congenital structural myopathy is_a: MONDO:0005336 {source="DOID:0080091", source="MONDO:Redundant", source="indirect"} ! myopathy is_a: MONDO:0016201 {source="Orphanet:268129"} ! qualitative or quantitative defects of myotilin @@ -154957,7 +154926,7 @@ xref: OMIM:182950 {source="MONDO:equivalentTo"} xref: Orphanet:137817 {source="MONDO:subClassOf", source="OMIM:182950"} xref: SCTID:426055002 {source="MONDO:equivalentTo"} xref: UMLS:C1710146 {source="OMIM:182950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015304 {source="MESH:C531624", source="NCIT:C50749", source="ORDO:137817/btnt"} ! arachnoiditis +is_a: MONDO:0015304 {source="MESH:C531624", source="NCIT:C50749", source="Orphanet:137817/btnt"} ! arachnoiditis property_value: confidence "34.333333333333464" xsd:double [Term] @@ -154976,10 +154945,10 @@ synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical, synonym: "neuropathy, distal hereditary motor, type 1" RELATED [OMIM:182960] synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [OMIM:182960] xref: DOID:0111200 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:139518/attributed", source="ORDO:139518/ntbt", source="Orphanet:139518"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139518", source="Orphanet:139518/attributed", source="Orphanet:139518/ntbt"} xref: MESH:C566675 {source="MONDO:equivalentTo"} xref: NCIT:C132826 {source="MONDO:equivalentTo"} -xref: OMIM:182960 {source="MONDO:equivalentTo", source="Orphanet:139518", source="ORDO:139518/e"} +xref: OMIM:182960 {source="MONDO:equivalentTo", source="Orphanet:139518", source="Orphanet:139518/e"} xref: Orphanet:139518 {source="MONDO:equivalentTo", source="OMIM:182960"} xref: UMLS:C1866784 {source="NCBI:mim2gene_medline", source="NCIT:C132826", source="MONDO:equivalentTo", source="Orphanet:139518", source="OMIM:182960"} is_a: MONDO:0000075 {source="DC-OMIM:182960"} ! neuronopathy, distal hereditary motor @@ -155010,8 +154979,8 @@ synonym: "SMAFK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182980] synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical, OMIM:182980] synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [OMIM:182980] xref: DOID:0111194 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.1 {source="ORDO:209335/attributed", source="ORDO:209335/ntbt", source="Orphanet:209335"} -xref: OMIM:182980 {source="MONDO:equivalentTo", source="ORDO:209335/e", source="Orphanet:209335"} +xref: ICD10CM:G12.1 {source="Orphanet:209335/attributed", source="Orphanet:209335/ntbt", source="Orphanet:209335"} +xref: OMIM:182980 {source="Orphanet:209335/e", source="MONDO:equivalentTo", source="Orphanet:209335"} xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"} xref: UMLS:C1854058 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:182980", source="Orphanet:209335"} xref: UMLS:C1866777 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:209335"} @@ -155033,7 +155002,7 @@ xref: MESH:C536878 {source="MONDO:equivalentTo"} xref: OMIM:182990 {source="MONDO:equivalentTo"} xref: Orphanet:2356 {source="MONDO:subClassOf", source="OMIM:182990"} xref: UMLS:C0344485 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:182990"} -is_a: MONDO:0008813 {source="MESH:C536878", source="ORDO:2356/btnt"} ! arachnoid cyst +is_a: MONDO:0008813 {source="MESH:C536878", source="Orphanet:2356/btnt"} ! arachnoid cyst property_value: confidence "2.8571428571428568" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts xsd:anyURI {source="GARD:0009701"} @@ -155068,12 +155037,12 @@ synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:1 synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086] xref: DOID:0050956 {source="MONDO:equivalentTo"} xref: GARD:0010351 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.2 {source="ORDO:98758/attributed", source="ORDO:98758/ntbt", source="Orphanet:98758"} +xref: ICD10CM:G11.2 {source="Orphanet:98758", source="Orphanet:98758/attributed", source="Orphanet:98758/ntbt"} xref: NCIT:C142838 {source="MONDO:equivalentTo"} -xref: OMIM:183086 {source="ORDO:98758/e", source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956"} +xref: OMIM:183086 {source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956", source="Orphanet:98758/e"} xref: Orphanet:98758 {source="MONDO:equivalentTo", source="OMIM:183086"} xref: SCTID:715752006 {source="MONDO:equivalentTo"} -xref: UMLS:C0752124 {source="NCBI:mim2gene_medline", source="ORDO:98758/e", source="MONDO:equivalentTo", source="Orphanet:98758", source="OMIM:183086"} +xref: UMLS:C0752124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98758", source="OMIM:183086", source="Orphanet:98758/e"} is_a: MONDO:0019793 {source="MONDO:Redundant", source="Orphanet:98758"} ! autosomal dominant cerebellar ataxia type III intersection_of: MONDO:0019793 ! autosomal dominant cerebellar ataxia type III intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 ! CACNA1A @@ -155112,12 +155081,12 @@ synonym: "Wadia-swami syndrome" RELATED [OMIM:183090] xref: DOID:0050955 {source="MONDO:equivalentTo"} xref: DOID:0060204 {source="MONDO:relatedTo"} xref: GARD:0004072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:98756", source="ORDO:98756/attributed", source="ORDO:98756/ntbt"} +xref: ICD10CM:G11.2 {source="Orphanet:98756/attributed", source="Orphanet:98756/ntbt", source="Orphanet:98756"} xref: NCIT:C148315 {source="MONDO:equivalentTo"} -xref: OMIM:183090 {source="ORDO:98756/e", source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955"} +xref: OMIM:183090 {source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955", source="Orphanet:98756/e"} xref: Orphanet:98756 {source="OMIM:183090", source="MONDO:equivalentTo"} xref: SCTID:715751004 {source="MONDO:equivalentTo"} -xref: UMLS:C0752121 {source="OMIM:183090", source="ORDO:98756/e", source="Orphanet:98756", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0752121 {source="OMIM:183090", source="Orphanet:98756", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98756/e"} xref: UMLS:C3149907 {source="OMIM:183090", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005144 {source="DC-OMIM:183090", source="DOID:0060204", source="MONDO:Redundant", source="OMIM:183090"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0015548 {source="Orphanet:98756"} ! Huntington disease-like syndrome @@ -155148,9 +155117,9 @@ synonym: "splenogonadal fusion limb defects micrognatia" RELATED [GARD:0004963] synonym: "splenogonadal fusion limb defects syndrome" RELATED [GARD:0004963] synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [OMIM:183300] xref: GARD:0004963 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2063", source="ORDO:2063/attributed", source="ORDO:2063/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2063/attributed", source="Orphanet:2063/ntbt", source="Orphanet:2063"} xref: MESH:C537318 {source="MONDO:equivalentTo"} -xref: OMIM:183300 {source="MONDO:equivalentTo", source="Orphanet:2063", source="ORDO:2063/e"} +xref: OMIM:183300 {source="Orphanet:2063/e", source="MONDO:equivalentTo", source="Orphanet:2063"} xref: Orphanet:2063 {source="MONDO:equivalentTo", source="OMIM:183300"} xref: SCTID:726724005 {source="MONDO:equivalentTo"} xref: UMLS:C1866745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2063", source="OMIM:183300"} @@ -155224,12 +155193,12 @@ synonym: "split foot deformity-mandibulofacial dysostosis syndrome" EXACT [Orpha synonym: "split-foot deformity with ectrodactyly and mandibulofacial dysostosis" RELATED [GARD:0004260] synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [OMIM:183700] xref: GARD:0004260 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:2439/attributed", source="ORDO:2439/ntbt", source="Orphanet:2439"} -xref: OMIM:183700 {source="MONDO:equivalentTo", source="ORDO:2439/e", source="Orphanet:2439"} +xref: ICD10CM:Q87.0 {source="Orphanet:2439/attributed", source="Orphanet:2439/ntbt", source="Orphanet:2439"} +xref: OMIM:183700 {source="Orphanet:2439/e", source="MONDO:equivalentTo", source="Orphanet:2439"} xref: Orphanet:2439 {source="OMIM:183700", source="MONDO:equivalentTo"} xref: SCTID:724069009 {source="MONDO:equivalentTo"} -xref: UMLS:C1866741 {source="OMIM:183700", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="ORDO:2439/e", source="Orphanet:2439"} -xref: UMLS:C3489790 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2439/e", source="Orphanet:2439"} +xref: UMLS:C1866741 {source="Orphanet:2439/e", source="OMIM:183700", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="Orphanet:2439"} +xref: UMLS:C3489790 {source="Orphanet:2439/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2439"} is_a: MONDO:0015334 {source="Orphanet:2439"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:2439"} ! acrofacial dysostosis property_value: confidence "7.125" xsd:double @@ -155248,9 +155217,9 @@ synonym: "split hand split foot nystagmus" RELATED [GARD:0004967] synonym: "split hand/split foot-nystagmus syndrome" EXACT [Orphanet:2329] synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [OMIM:183800] xref: GARD:0004967 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2329/attributed", source="ORDO:2329/ntbt", source="Orphanet:2329"} -xref: MESH:C537319 {source="MONDO:equivalentTo", source="ORDO:2329/e", source="Orphanet:2329"} -xref: OMIM:183800 {source="MONDO:equivalentTo", source="ORDO:2329/e", source="Orphanet:2329"} +xref: ICD10CM:Q87.2 {source="Orphanet:2329/attributed", source="Orphanet:2329/ntbt", source="Orphanet:2329"} +xref: MESH:C537319 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"} +xref: OMIM:183800 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"} xref: Orphanet:2329 {source="OMIM:183800", source="MONDO:equivalentTo"} xref: SCTID:722032005 {source="MONDO:equivalentTo"} xref: UMLS:C1866740 {source="OMIM:183800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2329"} @@ -155269,9 +155238,9 @@ synonym: "split hand with obstructive uropathy, spina bifida and diaphragmatic d synonym: "split hand-urinary anomalies-spina bifida syndrome" EXACT [Orphanet:2437] synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [OMIM:183802] xref: GARD:0004969 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2437/attributed", source="ORDO:2437/ntbt", source="Orphanet:2437"} +xref: ICD10CM:Q87.8 {source="Orphanet:2437", source="Orphanet:2437/attributed", source="Orphanet:2437/ntbt"} xref: MESH:C566662 {source="MONDO:equivalentTo"} -xref: OMIM:183802 {source="MONDO:equivalentTo", source="ORDO:2437/e", source="Orphanet:2437"} +xref: OMIM:183802 {source="MONDO:equivalentTo", source="Orphanet:2437", source="Orphanet:2437/e"} xref: Orphanet:2437 {source="OMIM:183802", source="MONDO:equivalentTo"} xref: UMLS:C1866739 {source="OMIM:183802", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2437"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2437", source="indirect"} ! syndromic intellectual disability @@ -155303,11 +155272,11 @@ synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [OMIM:183 synonym: "Whyte Petersen McAlister syndrome" RELATED [GARD:0010101] synonym: "Whyte syndrome" RELATED [OMIM:183849] xref: GARD:0010101 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="Orphanet:168443", source="ORDO:168443/attributed", source="ORDO:168443/ntbt"} -xref: MESH:C535783 {source="ORDO:168443/e", source="Orphanet:168443", source="MONDO:equivalentTo"} -xref: OMIM:183849 {source="ORDO:168443/e", source="Orphanet:168443", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.7 {source="Orphanet:168443/attributed", source="Orphanet:168443/ntbt", source="Orphanet:168443"} +xref: MESH:C535783 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"} +xref: OMIM:183849 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"} xref: Orphanet:168443 {source="MONDO:equivalentTo", source="OMIM:183849"} -xref: UMLS:C1866728 {source="ORDO:168443/e", source="Orphanet:168443", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183849"} +xref: UMLS:C1866728 {source="Orphanet:168443", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:183849", source="Orphanet:168443/e"} is_a: MONDO:0016761 {source="Orphanet:168443"} ! spondyloepiphyseal dysplasia property_value: confidence "3.7222222222222223" xsd:double @@ -155339,15 +155308,15 @@ synonym: "spondyloepiphyseal dysplasia, congenital type" RELATED [OMIM:183900] synonym: "Spranger-Wiedemann disease" EXACT [Orphanet:94068] xref: DOID:14789 {source="MONDO:equivalentTo"} xref: GARD:0004987 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:94068", source="ORDO:94068/attributed", source="ORDO:94068/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:94068", source="Orphanet:94068/attributed", source="Orphanet:94068/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062920 {source="ORDO:94068/e", source="Orphanet:94068"} -xref: MESH:C535788 {source="ORDO:94068/e", source="Orphanet:94068", source="MONDO:equivalentTo"} -xref: OMIM:183900 {source="DOID:14789", source="ORDO:94068/e", source="Orphanet:94068", source="MONDO:equivalentTo"} +xref: MedDRA:10062920 {source="Orphanet:94068", source="Orphanet:94068/e"} +xref: MESH:C535788 {source="Orphanet:94068", source="MONDO:equivalentTo", source="Orphanet:94068/e"} +xref: OMIM:183900 {source="DOID:14789", source="Orphanet:94068", source="MONDO:equivalentTo", source="Orphanet:94068/e"} xref: Orphanet:94068 {source="OMIM:183900", source="MONDO:equivalentTo"} xref: SCTID:278713008 {source="MONDO:equivalentTo"} xref: UMLS:C0038015 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2745959 {source="ORDO:94068/e", source="Orphanet:94068", source="OMIM:183900", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2745959 {source="Orphanet:94068", source="OMIM:183900", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94068/e"} is_a: MONDO:0016761 {source="Orphanet:94068"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:94068"} ! type 2 collagenopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2200 {source="mim2gene_medgen"} ! COL2A1 @@ -155361,9 +155330,9 @@ def: "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by sho subset: ordo_malformation_syndrome {source="Orphanet:163668"} synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [OMIM:184000] synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668] -xref: ICD10CM:Q77.7 {source="ORDO:163668/attributed", source="ORDO:163668/ntbt", source="Orphanet:163668"} +xref: ICD10CM:Q77.7 {source="Orphanet:163668/attributed", source="Orphanet:163668/ntbt", source="Orphanet:163668"} xref: MESH:C566659 {source="MONDO:equivalentTo"} -xref: OMIM:184000 {source="MONDO:equivalentTo", source="ORDO:163668/e", source="Orphanet:163668"} +xref: OMIM:184000 {source="Orphanet:163668/e", source="MONDO:equivalentTo", source="Orphanet:163668"} xref: Orphanet:163668 {source="MONDO:equivalentTo", source="OMIM:184000"} xref: UMLS:C1866719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184000", source="Orphanet:163668"} is_a: MONDO:0016761 {source="Orphanet:163668"} ! spondyloepiphyseal dysplasia @@ -155384,8 +155353,8 @@ synonym: "spondyloepiphyseal dysplasia Maroteaux type" EXACT [GARD:0000994] synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [OMIM:184095] xref: DOID:0111553 {source="MONDO:equivalentTo"} xref: GARD:0000994 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="Orphanet:263482", source="ORDO:263482/attributed", source="ORDO:263482/ntbt"} -xref: OMIM:184095 {source="Orphanet:263482", source="ORDO:263482/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.7 {source="Orphanet:263482", source="Orphanet:263482/attributed", source="Orphanet:263482/ntbt"} +xref: OMIM:184095 {source="Orphanet:263482", source="MONDO:equivalentTo", source="Orphanet:263482/e"} xref: Orphanet:263482 {source="MONDO:equivalentTo", source="OMIM:184095"} xref: SCTID:719204007 {source="MONDO:equivalentTo"} xref: UMLS:C3159322 {source="Orphanet:263482", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:184095"} @@ -155408,7 +155377,7 @@ xref: MESH:C566658 {source="MONDO:equivalentTo"} xref: OMIM:184100 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="MONDO:subClassOf", source="OMIM:184100"} xref: UMLS:C1866717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184100"} -is_a: MONDO:0019667 {source="MONDO:Redundant", source="ORDO:93284/btnt"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0019667 {source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:184100"} ! spondyloepiphyseal dysplasia with congenital joint dislocations @@ -155460,9 +155429,9 @@ synonym: "spondylometaphyseal dysplasia" RELATED [OMIM:184250] synonym: "Strudwick syndrome" RELATED [OMIM:184250] xref: DOID:0080028 {source="MONDO:equivalentTo"} xref: GARD:0000134 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:93346/attributed", source="ORDO:93346/ntbt", source="Orphanet:93346"} +xref: ICD10CM:Q77.7 {source="Orphanet:93346", source="Orphanet:93346/attributed", source="Orphanet:93346/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:184250 {source="ORDO:93346/e", source="MONDO:equivalentTo", source="Orphanet:93346", source="DOID:0080028"} +xref: OMIM:184250 {source="MONDO:equivalentTo", source="Orphanet:93346", source="DOID:0080028", source="Orphanet:93346/e"} xref: Orphanet:93346 {source="MONDO:equivalentTo", source="OMIM:184250"} xref: SCTID:702350003 {source="MONDO:equivalentTo"} xref: UMLS:C0700635 {source="NCBI:mim2gene_medline", source="OMIM:184250", source="Orphanet:93346", source="MONDO:notFoundInDiseaseSubset"} @@ -155498,11 +155467,11 @@ synonym: "SMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184252] synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:184252] xref: DOID:0111554 {source="MONDO:equivalentTo"} xref: GARD:0003047 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:93314/attributed", source="ORDO:93314/ntbt", source="Orphanet:93314"} -xref: MESH:C535797 {source="ORDO:93314/e", source="MONDO:equivalentTo", source="Orphanet:93314"} -xref: OMIM:184252 {source="ORDO:93314/e", source="MONDO:equivalentTo", source="Orphanet:93314"} +xref: ICD10CM:Q77.8 {source="Orphanet:93314", source="Orphanet:93314/attributed", source="Orphanet:93314/ntbt"} +xref: MESH:C535797 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} +xref: OMIM:184252 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: Orphanet:93314 {source="MONDO:equivalentTo", source="OMIM:184252"} -xref: UMLS:C0265280 {source="ORDO:93314/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:184252", source="Orphanet:93314"} +xref: UMLS:C0265280 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:184252", source="Orphanet:93314", source="Orphanet:93314/e"} is_a: MONDO:0016763 {source="DC-OMIM:184252", source="Orphanet:93314"} ! spondylometaphyseal dysplasia is_a: MONDO:0018240 {source="Orphanet:93314"} ! TRPV4-related bone disorder intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia @@ -155523,9 +155492,9 @@ synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [OMIM:184 synonym: "spondylometaphyseal dysplasia, Algerian type" EXACT [OMIM:184253, Orphanet:93316] synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253] xref: GARD:0000504 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="ORDO:93316/attributed", source="ORDO:93316/ntbt", source="Orphanet:93316"} +xref: ICD10CM:Q77.8 {source="Orphanet:93316/attributed", source="Orphanet:93316/ntbt", source="Orphanet:93316"} xref: MESH:C535794 {source="MONDO:equivalentTo"} -xref: OMIM:184253 {source="MONDO:equivalentTo", source="ORDO:93316/e", source="Orphanet:93316"} +xref: OMIM:184253 {source="Orphanet:93316/e", source="MONDO:equivalentTo", source="Orphanet:93316"} xref: Orphanet:93316 {source="MONDO:equivalentTo", source="OMIM:184253"} xref: SCTID:719304005 {source="MONDO:equivalentTo"} xref: UMLS:C1866688 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:184253", source="Orphanet:93316"} @@ -155547,12 +155516,12 @@ synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [OMIM:184255, Orp synonym: "Sutcliffe SmD" RELATED [GARD:0004991] synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991] xref: GARD:0004991 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:93315/attributed", source="ORDO:93315/ntbt", source="Orphanet:93315"} -xref: MESH:C535793 {source="MONDO:equivalentTo", source="ORDO:93315/e", source="Orphanet:93315"} -xref: OMIM:184255 {source="MONDO:equivalentTo", source="ORDO:93315/e", source="Orphanet:93315"} +xref: ICD10CM:Q77.8 {source="Orphanet:93315", source="Orphanet:93315/attributed", source="Orphanet:93315/ntbt"} +xref: MESH:C535793 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} +xref: OMIM:184255 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} xref: Orphanet:93315 {source="MONDO:equivalentTo", source="OMIM:184255"} xref: SCTID:254078005 {source="MONDO:equivalentTo"} -xref: UMLS:C0432221 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93315/e", source="Orphanet:93315", source="OMIM:184255"} +xref: UMLS:C0432221 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93315", source="OMIM:184255", source="Orphanet:93315/e"} is_a: MONDO:0016763 {source="DC-OMIM:184255", source="Orphanet:93315"} ! spondylometaphyseal dysplasia intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3778 ! FN1 @@ -155590,13 +155559,13 @@ synonym: "Sprengel's deformity" RELATED [GARD:0007693] synonym: "Sprengel's shoulder" RELATED [GARD:0007693] xref: GARD:0007693 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0000912 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q74.0 {source="ORDO:3181/ntbt", source="Orphanet:3181"} -xref: MedDRA:10010455 {source="Orphanet:3181", source="ORDO:3181/e"} -xref: MESH:C535802 {source="MONDO:equivalentTo", source="Orphanet:3181", source="ORDO:3181/e"} -xref: OMIM:184400 {source="MONDO:equivalentTo", source="Orphanet:3181", source="ORDO:3181/e"} +xref: ICD10CM:Q74.0 {source="Orphanet:3181", source="Orphanet:3181/ntbt"} +xref: MedDRA:10010455 {source="Orphanet:3181", source="Orphanet:3181/e"} +xref: MESH:C535802 {source="MONDO:equivalentTo", source="Orphanet:3181", source="Orphanet:3181/e"} +xref: OMIM:184400 {source="MONDO:equivalentTo", source="Orphanet:3181", source="Orphanet:3181/e"} xref: Orphanet:3181 {source="MONDO:equivalentTo", source="OMIM:184400"} xref: SCTID:79120002 {source="MONDO:equivalentTo"} -xref: UMLS:C0152438 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3181", source="ORDO:3181/e", source="OMIM:184400"} +xref: UMLS:C0152438 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3181", source="Orphanet:3181/e", source="OMIM:184400"} is_a: MONDO:0015929 {source="Orphanet:3181"} ! thoracic malformation property_value: confidence "8.375" xsd:double property_value: IAO:0000589 "Sprengel deformity (disease)" xsd:string @@ -155622,8 +155591,8 @@ synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and sy synonym: "stapes ankylosis syndrome without symphalangism" RELATED [OMIM:184460] synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460] synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917] -xref: ICD10CM:Q87.8 {source="Orphanet:140917", source="ORDO:140917/attributed", source="ORDO:140917/ntbt"} -xref: OMIM:184460 {source="ORDO:140917/e", source="Orphanet:140917", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:140917/attributed", source="Orphanet:140917/ntbt", source="Orphanet:140917"} +xref: OMIM:184460 {source="Orphanet:140917", source="MONDO:equivalentTo", source="Orphanet:140917/e"} xref: Orphanet:140917 {source="MONDO:equivalentTo", source="OMIM:184460"} xref: SCTID:719305006 {source="MONDO:equivalentTo"} xref: UMLS:C1866656 {source="NCBI:mim2gene_medline", source="Orphanet:140917", source="MONDO:equivalentTo", source="OMIM:184460"} @@ -155644,8 +155613,8 @@ synonym: "STEATOCYSTOMA multiplex" RELATED [OMIM:184500] synonym: "Steatocystoma multiplex" EXACT [Orphanet:841] xref: DOID:0111556 {source="MONDO:equivalentTo"} xref: GARD:0005003 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L72.2 {source="Orphanet:841", source="ORDO:841/specific", source="ORDO:841/e"} -xref: OMIM:184500 {source="Orphanet:841", source="MONDO:equivalentTo", source="ORDO:841/e"} +xref: ICD10CM:L72.2 {source="Orphanet:841", source="Orphanet:841/e", source="Orphanet:841/specific"} +xref: OMIM:184500 {source="Orphanet:841", source="MONDO:equivalentTo", source="Orphanet:841/e"} xref: Orphanet:841 {source="MONDO:equivalentTo", source="OMIM:184500"} xref: SCTID:109433009 {source="MONDO:equivalentTo"} xref: UMLS:C0259771 {source="Orphanet:841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184500"} @@ -155662,11 +155631,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:3184"} synonym: "Natal teeth and steatocystoma multiplex" RELATED [GARD:0005004] synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [OMIM:184510] xref: GARD:0005004 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L72.2 {source="ORDO:3184/attributed", source="ORDO:3184/ntbt", source="Orphanet:3184"} -xref: MESH:C537487 {source="MONDO:equivalentTo", source="ORDO:3184/e", source="Orphanet:3184"} -xref: OMIM:184510 {source="MONDO:equivalentTo", source="ORDO:3184/e", source="Orphanet:3184"} +xref: ICD10CM:L72.2 {source="Orphanet:3184/attributed", source="Orphanet:3184/ntbt", source="Orphanet:3184"} +xref: MESH:C537487 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"} +xref: OMIM:184510 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"} xref: Orphanet:3184 {source="MONDO:equivalentTo", source="OMIM:184510"} -xref: UMLS:C1866650 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3184/e", source="Orphanet:3184", source="OMIM:184510"} +xref: UMLS:C1866650 {source="Orphanet:3184/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3184", source="OMIM:184510"} is_a: MONDO:0021029 {source="OWLReasoner:2017", source="Orphanet:3184"} ! genetic sebaceous gland anomaly is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3184", source="Orphanet:3184/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -155719,9 +155688,9 @@ synonym: "holoprosencephaly radial heart renal anomalies" RELATED [GARD:0002727] synonym: "STEINFELD syndrome" RELATED [OMIM:184705] synonym: "Steinfeld syndrome" EXACT [Orphanet:3186] xref: GARD:0002727 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3186/attributed", source="ORDO:3186/ntbt", source="Orphanet:3186"} +xref: ICD10CM:Q87.8 {source="Orphanet:3186/attributed", source="Orphanet:3186/ntbt", source="Orphanet:3186"} xref: MESH:C566655 {source="MONDO:equivalentTo"} -xref: OMIM:184705 {source="MONDO:equivalentTo", source="GARD:0002727", source="ORDO:3186/e", source="Orphanet:3186"} +xref: OMIM:184705 {source="Orphanet:3186/e", source="MONDO:equivalentTo", source="GARD:0002727", source="Orphanet:3186"} xref: Orphanet:3186 {source="MONDO:equivalentTo", source="OMIM:184705", source="GARD:0002727"} xref: SCTID:716233007 {source="MONDO:equivalentTo"} xref: UMLS:C1866649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184705", source="Orphanet:3186"} @@ -155773,12 +155742,12 @@ synonym: "WZS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277610] xref: DOID:4258 {source="MONDO:equivalentTo"} xref: GARD:0004351 {source="MONDO:equivalentObsolete", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0005021 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:Q77.7 {source="ORDO:3450/attributed", source="ORDO:3450/ntbt", source="Orphanet:3450"} -xref: ICD10CM:Q87.5 {source="Orphanet:166100", source="ORDO:166100/attributed", source="ORDO:166100/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:3450/attributed", source="Orphanet:3450/ntbt", source="Orphanet:3450"} +xref: ICD10CM:Q87.5 {source="Orphanet:166100/attributed", source="Orphanet:166100/ntbt", source="Orphanet:166100"} xref: MESH:C535776 {source="MONDO:equivalentTo"} -xref: MESH:C537494 {source="ORDO:166100/e", source="Orphanet:166100", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:184840 {source="ORDO:166100/e", source="Orphanet:166100", source="MONDO:equivalentTo"} -xref: OMIM:277610 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="ORDO:3450/e", source="Orphanet:3450"} +xref: MESH:C537494 {source="Orphanet:166100", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:166100/e"} +xref: OMIM:184840 {source="Orphanet:166100", source="MONDO:equivalentTo", source="Orphanet:166100/e"} +xref: OMIM:277610 {source="Orphanet:3450/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:3450"} xref: Orphanet:166100 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:184840"} xref: Orphanet:3450 {source="MONDO:equivalentTo", source="OMIM:277610"} xref: SCTID:156908005 {source="DOID:4258"} @@ -155786,7 +155755,7 @@ xref: SCTID:268313009 {source="DOID:4258"} xref: SCTID:4602007 {source="MONDO:relatedTo", source="DOID:4258"} xref: SCTID:699313003 {source="MONDO:equivalentTo"} xref: UMLS:C1848488 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:277610", source="Orphanet:3450"} -xref: UMLS:C1861481 {source="ORDO:166100/e", source="Orphanet:166100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:184840"} +xref: UMLS:C1861481 {source="Orphanet:166100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166100/e", source="OMIM:184840"} is_a: MONDO:0008975 {source="OMIM:184840"} ! otospondylomegaepiphyseal dysplasia is_a: MONDO:0015161 {source="Orphanet:166100", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:166100", source="Orphanet:3450"} ! orofacial clefting syndrome @@ -155820,16 +155789,16 @@ synonym: "Stiff-trunk syndrome" RELATED [OMIM:184850] xref: DOID:13366 {source="MONDO:equivalentTo", source="EFO:0007498"} xref: EFO:0007498 {source="MONDO:equivalentTo"} xref: GARD:0005023 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G25.8 {source="ORDO:3198/ntbt", source="Orphanet:3198"} +xref: ICD10CM:G25.8 {source="Orphanet:3198/ntbt", source="Orphanet:3198"} xref: ICD10CM:G25.82 {source="DOID:13366"} xref: ICD9:333.91 {source="MONDO:equivalentTo", source="i2s", source="DOID:13366"} -xref: MedDRA:10042044 {source="Orphanet:3198", source="ORDO:3198/e"} +xref: MedDRA:10042044 {source="Orphanet:3198/e", source="Orphanet:3198"} xref: MESH:D016750 {source="MONDO:equivalentTo", source="DOID:13366", source="EFO:0007498"} xref: NCIT:C85170 {source="MONDO:equivalentTo", source="DOID:13366"} -xref: OMIM:184850 {source="MONDO:equivalentTo", source="DOID:13366", source="Orphanet:3198", source="ORDO:3198/e"} +xref: OMIM:184850 {source="Orphanet:3198/e", source="MONDO:equivalentTo", source="DOID:13366", source="Orphanet:3198"} xref: Orphanet:3198 {source="MONDO:equivalentTo", source="OMIM:184850"} xref: SCTID:5217008 {source="MONDO:equivalentTo", source="DOID:13366"} -xref: UMLS:C0085292 {source="NCIT:C85170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184850", source="DOID:13366", source="Orphanet:3198", source="ORDO:3198/e"} +xref: UMLS:C0085292 {source="NCIT:C85170", source="Orphanet:3198/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:184850", source="DOID:13366", source="Orphanet:3198"} xref: UMLS:C1861457 {source="MONDO:superClassOf", source="OMIM:184850"} is_a: MONDO:0002254 {source="NCIT:C85170"} ! syndromic disease is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted"} ! diabetes mellitus @@ -155848,11 +155817,11 @@ synonym: "STIFF skin syndrome" RELATED [OMIM:184900] synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900] xref: DOID:0111561 {source="MONDO:equivalentTo"} xref: GARD:0005025 {source="MONDO:equivalentTo"} -xref: ICD10CM:L98.8 {source="ORDO:2833/attributed", source="ORDO:2833/ntbt", source="Orphanet:2833"} +xref: ICD10CM:L98.8 {source="Orphanet:2833", source="Orphanet:2833/attributed", source="Orphanet:2833/ntbt"} xref: MESH:C566112 {source="MONDO:equivalentTo"} xref: NCIT:C118636 {source="MONDO:equivalentTo"} -xref: OMIM:184900 {source="MONDO:equivalentTo", source="ORDO:2833/e", source="Orphanet:2833"} -xref: OMIM:228020 {source="ORDO:2833/btnt", source="MONDO:superClassOf", source="Orphanet:2833"} +xref: OMIM:184900 {source="MONDO:equivalentTo", source="Orphanet:2833", source="Orphanet:2833/e"} +xref: OMIM:228020 {source="MONDO:superClassOf", source="Orphanet:2833", source="Orphanet:2833/btnt"} xref: Orphanet:2833 {source="OMIM:184900", source="MONDO:equivalentTo"} xref: SCTID:765187004 {source="MONDO:equivalentTo"} xref: UMLS:C1861456 {source="OMIM:184900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118636", source="Orphanet:2833"} @@ -155876,9 +155845,9 @@ synonym: "stomatocytosis 1" RELATED [OMIM:185000] synonym: "stomatocytosis I" RELATED [GARD:0004183] xref: DOID:0111562 {source="MONDO:equivalentTo"} xref: GARD:0004183 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D58.8 {source="Orphanet:3203", source="ORDO:3203/attributed", source="ORDO:3203/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:3203/attributed", source="Orphanet:3203/ntbt", source="Orphanet:3203"} xref: MESH:C566111 {source="MONDO:equivalentTo"} -xref: OMIM:185000 {source="ORDO:3203/e", source="Orphanet:3203", source="MONDO:equivalentTo"} +xref: OMIM:185000 {source="Orphanet:3203", source="MONDO:equivalentTo", source="Orphanet:3203/e"} xref: Orphanet:3203 {source="MONDO:equivalentTo", source="OMIM:185000"} xref: SCTID:722125003 {source="MONDO:equivalentTo"} xref: UMLS:C1861455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185000"} @@ -155896,9 +155865,9 @@ synonym: "hereditary cryohydrocytosis with normal stomatin" EXACT [Orphanet:3980 synonym: "pseudohyperkalemia Cardiff" RELATED [OMIM:185020] synonym: "stomatocytosis, cold-sensitive" EXACT [OMIM:185020] xref: GARD:0010184 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D58.8 {source="Orphanet:398088", source="ORDO:398088/attributed", source="ORDO:398088/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:398088", source="Orphanet:398088/attributed", source="Orphanet:398088/ntbt"} xref: MESH:C535827 {source="MONDO:equivalentTo"} -xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source="ORDO:398088/e"} +xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source="Orphanet:398088/e"} xref: Orphanet:398088 {source="MONDO:equivalentTo"} xref: Orphanet:90044 {source="MONDO:subClassOf", source="OMIM:185020"} xref: UMLS:C1861453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185020"} @@ -155922,7 +155891,7 @@ synonym: "storage pool platelet disease" RELATED [OMIM:185050] xref: DOID:2223 {source="EFO:1001112", source="MONDO:equivalentTo"} xref: EFO:1001112 {source="MONDO:equivalentTo"} xref: GARD:0005034 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.1 {source="Orphanet:734", source="ORDO:734/attributed", source="ORDO:734/ntbt"} +xref: ICD10CM:D69.1 {source="Orphanet:734/attributed", source="Orphanet:734/ntbt", source="Orphanet:734"} xref: MESH:D010981 {source="EFO:1001112", source="DOID:2223", source="MONDO:equivalentTo"} xref: OMIM:185050 {source="DOID:2223", source="Orphanet:734", source="MONDO:equivalentTo"} xref: Orphanet:734 {source="MONDO:equivalentTo"} @@ -155967,10 +155936,10 @@ synonym: "Thrombocytopathy-asplenia-miosis syndrome" EXACT [Orphanet:3204] synonym: "york Platelet syndrome" RELATED [OMIM:185070] xref: DOID:0060354 {source="MONDO:equivalentTo"} xref: GARD:0005188 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D69.8 {source="Orphanet:3204", source="ORDO:3204/attributed", source="ORDO:3204/ntbt"} +xref: ICD10CM:D69.8 {source="Orphanet:3204/attributed", source="Orphanet:3204/ntbt", source="Orphanet:3204"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566108 {source="DOID:0060354", source="MONDO:equivalentTo"} -xref: OMIM:185070 {source="DOID:0060354", source="Orphanet:3204", source="ORDO:3204/e", source="MONDO:equivalentTo"} +xref: OMIM:185070 {source="DOID:0060354", source="Orphanet:3204", source="MONDO:equivalentTo", source="Orphanet:3204/e"} xref: Orphanet:3204 {source="DOID:0060354", source="OMIM:185070", source="MONDO:equivalentTo"} xref: SCTID:711407000 {source="DOID:0060354", source="MONDO:equivalentTo"} xref: UMLS:C1861451 {source="DOID:0060354", source="OMIM:185070", source="Orphanet:3204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -156000,9 +155969,9 @@ synonym: "Stratton Parker syndrome" RELATED [GARD:0004856] synonym: "STRATTON-PARKER syndrome" RELATED [OMIM:185120] synonym: "Stratton-Parker syndrome" EXACT [Orphanet:2863] xref: GARD:0004856 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:2863", source="ORDO:2863/attributed", source="ORDO:2863/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:2863/attributed", source="Orphanet:2863/ntbt", source="Orphanet:2863"} xref: MESH:C566105 {source="MONDO:equivalentTo"} -xref: OMIM:185120 {source="Orphanet:2863", source="ORDO:2863/e", source="MONDO:equivalentTo"} +xref: OMIM:185120 {source="Orphanet:2863", source="MONDO:equivalentTo", source="Orphanet:2863/e"} xref: Orphanet:2863 {source="MONDO:equivalentTo", source="OMIM:185120"} xref: SCTID:763631006 {source="MONDO:equivalentTo"} xref: UMLS:C1861448 {source="Orphanet:2863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185120"} @@ -156047,16 +156016,16 @@ synonym: "SWS type II - Facial angioma alone, no CNS involvement" RELATED [GARD: synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706] xref: DOID:0111563 {source="MONDO:equivalentTo"} xref: GARD:0007706 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.8 {source="ORDO:3205/ntbt", source="Orphanet:3205", source="ORDO:3205/inclusion"} +xref: ICD10CM:Q85.8 {source="Orphanet:3205/inclusion", source="Orphanet:3205", source="Orphanet:3205/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10042265 {source="ORDO:3205/e", source="Orphanet:3205"} -xref: MedDRA:10057653 {source="ORDO:3205/e", source="Orphanet:3205"} -xref: MESH:D013341 {source="ORDO:3205/e", source="MONDO:equivalentTo", source="Orphanet:3205"} +xref: MedDRA:10042265 {source="Orphanet:3205", source="Orphanet:3205/e"} +xref: MedDRA:10057653 {source="Orphanet:3205", source="Orphanet:3205/e"} +xref: MESH:D013341 {source="MONDO:equivalentTo", source="Orphanet:3205", source="Orphanet:3205/e"} xref: NCIT:C3391 {source="MONDO:equivalentTo"} -xref: OMIM:185300 {source="ORDO:3205/e", source="MONDO:equivalentTo", source="Orphanet:3205"} +xref: OMIM:185300 {source="MONDO:equivalentTo", source="Orphanet:3205", source="Orphanet:3205/e"} xref: Orphanet:3205 {source="MONDO:equivalentTo", source="OMIM:185300"} xref: SCTID:19886006 {source="MONDO:equivalentTo"} -xref: UMLS:C0038505 {source="NCIT:C3391", source="ORDO:3205/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3205", source="OMIM:185300"} +xref: UMLS:C0038505 {source="NCIT:C3391", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3205", source="OMIM:185300", source="Orphanet:3205/e"} xref: UMLS:CN204001 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0042983 {source="MESH:D013341", source="NCIT:C3391", source="https://www.hopkinsmedicine.org", source="indirect", source="linkedlifedata"} ! neurocutaneous syndrome @@ -156096,12 +156065,12 @@ synonym: "suprabulbar paresis, congenital" RELATED [OMIM:185480] synonym: "Worster Drought syndrome" RELATED [GARD:0005598] synonym: "Worster-Drought syndrome" EXACT [OMIM:185480] xref: GARD:0005598 {source="MONDO:equivalentTo"} -xref: ICD10CM:G80.8 {source="Orphanet:3465", source="ORDO:3465/ntbt"} -xref: MESH:C536747 {source="ORDO:3465/e", source="Orphanet:3465", source="MONDO:equivalentTo"} -xref: OMIM:185480 {source="ORDO:3465/e", source="Orphanet:3465", source="MONDO:equivalentTo"} +xref: ICD10CM:G80.8 {source="Orphanet:3465/ntbt", source="Orphanet:3465"} +xref: MESH:C536747 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"} +xref: OMIM:185480 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"} xref: Orphanet:3465 {source="OMIM:185480", source="MONDO:equivalentTo"} xref: SCTID:716335003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796204 {source="ORDO:3465/e", source="Orphanet:3465", source="OMIM:185480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0796204 {source="Orphanet:3465", source="OMIM:185480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3465/e"} is_a: MONDO:0005071 {source="Orphanet:3465"} ! nervous system disorder relationship: disease_has_feature MONDO:0001071 {source="MESH:C536747"} ! intellectual disability relationship: disease_has_feature MONDO:0006497 {source="MONDO:cjm"} ! cerebral palsy @@ -156124,16 +156093,16 @@ synonym: "SVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185500, Orphanet:3193] xref: DOID:1929 {source="MONDO:equivalentTo"} xref: GARD:0000743 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0004381 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q25.3 {source="ORDO:3193/inclusion", source="DOID:1929", source="ORDO:3193/ntbt", source="Orphanet:3193"} -xref: MedDRA:10042598 {source="ORDO:3193/e", source="Orphanet:3193"} -xref: MESH:D021921 {source="DOID:1929", source="ORDO:3193/e", source="Orphanet:3193"} +xref: ICD10CM:Q25.3 {source="DOID:1929", source="Orphanet:3193/inclusion", source="Orphanet:3193/ntbt", source="Orphanet:3193"} +xref: MedDRA:10042598 {source="Orphanet:3193/e", source="Orphanet:3193"} +xref: MESH:D021921 {source="Orphanet:3193/e", source="DOID:1929", source="Orphanet:3193"} xref: NCIT:C85176 {source="DOID:1929", source="MONDO:otherHierarchy"} -xref: OMIM:185500 {source="DOID:1929", source="MONDO:equivalentTo", source="ORDO:3193/e", source="Orphanet:3193"} +xref: OMIM:185500 {source="Orphanet:3193/e", source="DOID:1929", source="MONDO:equivalentTo", source="Orphanet:3193"} xref: Orphanet:3193 {source="MONDO:equivalentTo", source="OMIM:185500"} xref: SCTID:204436002 {source="DOID:1929"} xref: SCTID:268185002 {source="DOID:1929", source="MONDO:equivalentTo"} -xref: UMLS:C0003499 {source="DOID:1929", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3193/e", source="Orphanet:3193", source="OMIM:185500"} -xref: UMLS:C1305147 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:3193/e", source="Orphanet:3193"} +xref: UMLS:C0003499 {source="Orphanet:3193/e", source="DOID:1929", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3193", source="OMIM:185500"} +xref: UMLS:C1305147 {source="Orphanet:3193/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3193"} xref: UMLS:C2936909 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:185500"} is_a: MONDO:0004978 {source="DOID:1929"} ! aortic stenosis is_a: MONDO:0017131 {source="Orphanet:3193"} ! genetic cardiac anomaly @@ -156195,9 +156164,9 @@ synonym: "distal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-660 synonym: "Sym2" RELATED [OMIM:185700] synonym: "symphalangism, distal" RELATED [OMIM:185700] xref: HP:0100263 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q70.9 {source="Orphanet:3248", source="ORDO:3248/attributed", source="ORDO:3248/ntbt"} +xref: ICD10CM:Q70.9 {source="Orphanet:3248/attributed", source="Orphanet:3248/ntbt", source="Orphanet:3248"} xref: MESH:C566099 {source="MONDO:equivalentTo"} -xref: OMIM:185700 {source="Orphanet:3248", source="ORDO:3248/e", source="MONDO:equivalentTo"} +xref: OMIM:185700 {source="Orphanet:3248", source="MONDO:equivalentTo", source="Orphanet:3248/e"} xref: Orphanet:3248 {source="OMIM:185700", source="MONDO:equivalentTo"} xref: UMLS:C1861401 {source="OMIM:185700", source="Orphanet:3248", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000151 {source="DC-OMIM:185700"} ! symphalangism @@ -156214,9 +156183,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3246"} synonym: "Learman syndrome" EXACT [Orphanet:3246] synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750] xref: GARD:0005077 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:3246", source="ORDO:3246/attributed", source="ORDO:3246/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:3246", source="Orphanet:3246/attributed", source="Orphanet:3246/ntbt"} xref: MESH:C566098 {source="MONDO:equivalentTo"} -xref: OMIM:185750 {source="Orphanet:3246", source="ORDO:3246/e", source="MONDO:equivalentTo"} +xref: OMIM:185750 {source="Orphanet:3246", source="MONDO:equivalentTo", source="Orphanet:3246/e"} xref: Orphanet:3246 {source="MONDO:equivalentTo", source="OMIM:185750"} xref: SCTID:732955001 {source="MONDO:equivalentTo"} xref: UMLS:C1861391 {source="Orphanet:3246", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:185750"} @@ -156244,14 +156213,14 @@ synonym: "vessel’s syndrome" RELATED [GARD:0008182] xref: DOID:0050788 {source="MONDO:equivalentTo"} xref: GARD:0008182 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0100264 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q70.9 {source="ORDO:3250/attributed", source="ORDO:3250/ntbt", source="Orphanet:3250"} +xref: ICD10CM:Q70.9 {source="Orphanet:3250/attributed", source="Orphanet:3250/ntbt", source="Orphanet:3250"} xref: KEGG:H00484 {source="MONDO:relatedTo", source="DOID:0050788"} -xref: MESH:C536223 {source="MONDO:equivalentTo", source="ORDO:3250/e", source="Orphanet:3250"} -xref: OMIM:185800 {source="DOID:0050788", source="MONDO:superClassOf", source="ORDO:3250/e", source="Orphanet:3250"} -xref: OMIM:615298 {source="ORDO:3250/btnt", source="MONDO:superClassOf", source="Orphanet:3250"} +xref: MESH:C536223 {source="Orphanet:3250/e", source="MONDO:equivalentTo", source="Orphanet:3250"} +xref: OMIM:185800 {source="Orphanet:3250/e", source="DOID:0050788", source="MONDO:superClassOf", source="Orphanet:3250"} +xref: OMIM:615298 {source="MONDO:superClassOf", source="Orphanet:3250/btnt", source="Orphanet:3250"} xref: OMIMPS:185800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3250 {source="OMIM:185800", source="MONDO:equivalentTo"} -xref: UMLS:C1861385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3250/e", source="Orphanet:3250"} +xref: UMLS:C1861385 {source="Orphanet:3250/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3250"} is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism is_a: MONDO:0000426 {source="DOID:0050788", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0018454 ! dysostosis of genetic origin @@ -156273,12 +156242,12 @@ synonym: "syndactyly, type 1" RELATED [OMIM:185900] synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [OMIM:185900, OMIM:genemap2] synonym: "Zygodactyly" RELATED [OMIM:185900] xref: GARD:0005081 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q70.0 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"} -xref: ICD10CM:Q70.1 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"} -xref: ICD10CM:Q70.2 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"} -xref: ICD10CM:Q70.3 {source="ORDO:93402/nd", source="ORDO:93402/attributed", source="Orphanet:93402"} -xref: OMIM:185900 {source="ORDO:93402/e", source="MONDO:equivalentTo", source="Orphanet:93402"} -xref: OMIM:609815 {source="MONDO:superClassOf", source="ORDO:93402/btnt", source="Orphanet:93402"} +xref: ICD10CM:Q70.0 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} +xref: ICD10CM:Q70.1 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} +xref: ICD10CM:Q70.2 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} +xref: ICD10CM:Q70.3 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} +xref: OMIM:185900 {source="MONDO:equivalentTo", source="Orphanet:93402", source="Orphanet:93402/e"} +xref: OMIM:609815 {source="MONDO:superClassOf", source="Orphanet:93402", source="Orphanet:93402/btnt"} xref: Orphanet:1527 {source="MONDO:relatedTo", source="OMIM:185900", source="MONDO:superClassOf"} xref: Orphanet:93402 {source="OMIM:185900", source="MONDO:equivalentTo"} xref: SCTID:715723008 {source="MONDO:equivalentTo"} @@ -156309,9 +156278,9 @@ synonym: "synpolydactyly 1" RELATED [MONDO:Lexical, OMIM:186000] synonym: "synpolydactyly type 1" EXACT CLINGEN_PREFERRED [MONDORULE:1, OMIM:186000] synonym: "synpolydactyly with foot anomalies" RELATED [OMIM:186000] synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195] -xref: ICD10CM:Q70.0 {source="Orphanet:295195", source="ORDO:295195/nd", source="ORDO:295195/attributed"} -xref: ICD10CM:Q70.2 {source="Orphanet:295195", source="ORDO:295195/nd", source="ORDO:295195/attributed"} -xref: OMIM:186000 {source="Orphanet:295195", source="ORDO:295195/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q70.0 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} +xref: ICD10CM:Q70.2 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} +xref: OMIM:186000 {source="Orphanet:295195", source="MONDO:equivalentTo", source="Orphanet:295195/e"} xref: Orphanet:295195 {source="MONDO:equivalentTo", source="OMIM:186000"} xref: Orphanet:93403 {source="MONDO:subClassOf", source="OMIM:186000"} xref: UMLS:C1861367 {source="Orphanet:295195", source="MONDO:notFoundInDiseaseSubset", source="OMIM:186000"} @@ -156342,12 +156311,12 @@ synonym: "syndactyly of the ring and little finger" RELATED [GARD:0005088] synonym: "syndactyly, type 3" RELATED [OMIM:186100] synonym: "syndactyly, type III" RELATED [OMIM:186100] xref: GARD:0005088 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q70.1 {source="ORDO:93404/attributed", source="ORDO:93404/ntbt", source="Orphanet:93404"} -xref: MESH:C538154 {source="MONDO:equivalentTo", source="ORDO:93404/e", source="Orphanet:93404"} -xref: OMIM:186100 {source="MONDO:equivalentTo", source="ORDO:93404/e", source="Orphanet:93404"} +xref: ICD10CM:Q70.1 {source="Orphanet:93404/attributed", source="Orphanet:93404/ntbt", source="Orphanet:93404"} +xref: MESH:C538154 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} +xref: OMIM:186100 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} xref: Orphanet:93404 {source="MONDO:equivalentTo", source="OMIM:186100"} xref: SCTID:715725001 {source="MONDO:equivalentTo"} -xref: UMLS:C1861366 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93404/e", source="OMIM:186100", source="Orphanet:93404"} +xref: UMLS:C1861366 {source="Orphanet:93404/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186100", source="Orphanet:93404"} is_a: MONDO:0019530 {source="DC-OMIM:186100", source="MONDO:Redundant", source="Orphanet:93404"} ! non-syndromic syndactyly intersection_of: MONDO:0019530 ! non-syndromic syndactyly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4274 ! GJA1 @@ -156371,9 +156340,9 @@ synonym: "SDTY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186200] synonym: "syndactyly, type 4" RELATED [OMIM:186200] synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200] xref: GARD:0004434 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q70.4 {source="ORDO:93405/attributed", source="ORDO:93405/ntbt", source="Orphanet:93405"} +xref: ICD10CM:Q70.4 {source="Orphanet:93405", source="Orphanet:93405/attributed", source="Orphanet:93405/ntbt"} xref: MESH:C566092 {source="MONDO:equivalentTo"} -xref: OMIM:186200 {source="MONDO:equivalentTo", source="ORDO:93405/e", source="Orphanet:93405"} +xref: OMIM:186200 {source="Orphanet:93405/e", source="MONDO:equivalentTo", source="Orphanet:93405"} xref: Orphanet:93405 {source="MONDO:equivalentTo", source="OMIM:186200"} xref: SCTID:719158007 {source="MONDO:equivalentTo"} xref: UMLS:C1861355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93405", source="OMIM:186200"} @@ -156398,13 +156367,13 @@ synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [OMIM:186300 synonym: "syndactyly, type 5" RELATED [OMIM:186300] synonym: "syndactyly, type V" RELATED [OMIM:186300] xref: GARD:0005089 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q70.0 {source="ORDO:93406/nd", source="ORDO:93406/attributed", source="Orphanet:93406"} -xref: ICD10CM:Q70.2 {source="ORDO:93406/nd", source="ORDO:93406/attributed", source="Orphanet:93406"} -xref: MESH:C538155 {source="MONDO:equivalentTo", source="ORDO:93406/e", source="Orphanet:93406"} -xref: OMIM:186300 {source="MONDO:equivalentTo", source="ORDO:93406/e", source="Orphanet:93406"} +xref: ICD10CM:Q70.0 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} +xref: ICD10CM:Q70.2 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} +xref: MESH:C538155 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} +xref: OMIM:186300 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} xref: Orphanet:93406 {source="MONDO:equivalentTo", source="OMIM:186300"} xref: SCTID:719159004 {source="MONDO:equivalentTo"} -xref: UMLS:C1861348 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93406/e", source="OMIM:186300", source="Orphanet:93406"} +xref: UMLS:C1861348 {source="Orphanet:93406/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:186300", source="Orphanet:93406"} is_a: MONDO:0019530 {source="DC-OMIM:186300", source="Orphanet:93406"} ! non-syndromic syndactyly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5136 {source="mim2gene_medgen"} ! HOXD13 property_value: confidence "1.0" xsd:double @@ -156419,7 +156388,7 @@ synonym: "Spel syndrome" RELATED [OMIM:186350] synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [OMIM:186350] xref: GARD:0005090 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C566091 {source="MONDO:equivalentTo"} -xref: OMIM:186350 {source="Orphanet:3259", source="ORDO:3259/e", source="MONDO:equivalentTo"} +xref: OMIM:186350 {source="Orphanet:3259", source="MONDO:equivalentTo", source="Orphanet:3259/e"} xref: Orphanet:3259 {source="MONDO:equivalentTo", source="OMIM:186350"} xref: UMLS:C1861347 {source="Orphanet:3259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186350"} is_a: MONDO:0002254 {source="Orphanet:3259"} ! syndromic disease @@ -156443,7 +156412,7 @@ xref: SCTID:62628008 {source="MONDO:equivalentTo", source="DOID:14762"} xref: UMLS:C0175700 {source="MONDO:equivalentTo", source="DOID:14762"} xref: UMLS:C1876184 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:186400"} is_a: MONDO:0001411 {source="DOID:14762", source="MESH:C538156"} ! synostosis -is_a: MONDO:0008521 {source="ORDO:1412/btnt"} ! tarsal-carpal coalition syndrome +is_a: MONDO:0008521 {source="Orphanet:1412/btnt"} ! tarsal-carpal coalition syndrome relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:186400"} ! Autosomal dominant inheritance property_value: confidence "4.000000000000001" xsd:double @@ -156491,9 +156460,9 @@ synonym: "LIEBENBERG syndrome" RELATED [OMIM:186550] synonym: "Liebenberg syndrome" EXACT [GARD:0000966, MONDO:Lexical, OMIM:186550, Orphanet:1275] synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [OMIM:186550] xref: GARD:0000966 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:1275", source="ORDO:1275/attributed", source="ORDO:1275/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:1275", source="Orphanet:1275/attributed", source="Orphanet:1275/ntbt"} xref: MESH:C566090 {source="MONDO:equivalentTo"} -xref: OMIM:186550 {source="Orphanet:1275", source="ORDO:1275/e", source="MONDO:equivalentTo", source="GARD:0000966"} +xref: OMIM:186550 {source="Orphanet:1275", source="MONDO:equivalentTo", source="Orphanet:1275/e", source="GARD:0000966"} xref: Orphanet:1275 {source="MONDO:equivalentTo", source="OMIM:186550", source="GARD:0000966"} xref: SCTID:764437006 {source="MONDO:equivalentTo"} xref: UMLS:C1861313 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186550"} @@ -156515,14 +156484,14 @@ synonym: "TCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186570] xref: DOID:0050789 {source="MONDO:equivalentTo"} xref: EFO:0008965 {source="MONDO:equivalentTo"} xref: GARD:0009225 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="ORDO:1412/attributed", source="ORDO:1412/ntbt", source="Orphanet:1412"} +xref: ICD10CM:Q74.8 {source="Orphanet:1412", source="Orphanet:1412/attributed", source="Orphanet:1412/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536943 {source="ORDO:1412/e", source="Orphanet:1412"} -xref: OMIM:186400 {source="MONDO:superClassOf", source="ORDO:1412/btnt", source="Orphanet:1412"} -xref: OMIM:186570 {source="ORDO:1412/e", source="MONDO:equivalentTo", source="Orphanet:1412", source="DOID:0050789"} +xref: MESH:C536943 {source="Orphanet:1412", source="Orphanet:1412/e"} +xref: OMIM:186400 {source="MONDO:superClassOf", source="Orphanet:1412", source="Orphanet:1412/btnt"} +xref: OMIM:186570 {source="MONDO:equivalentTo", source="Orphanet:1412", source="DOID:0050789", source="Orphanet:1412/e"} xref: Orphanet:1412 {source="MONDO:equivalentTo", source="OMIM:186570"} xref: SCTID:702312009 {source="MONDO:equivalentTo"} -xref: UMLS:C1861305 {source="ORDO:1412/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186570", source="Orphanet:1412"} +xref: UMLS:C1861305 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:186570", source="Orphanet:1412", source="Orphanet:1412/e"} xref: UMLS:C1861306 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:186570"} is_a: MONDO:0000426 {source="DOID:0050789", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0018454 ! dysostosis of genetic origin @@ -156569,10 +156538,10 @@ xref: DOID:0050678 {source="MONDO:equivalentTo"} xref: GARD:0000304 {source="MONDO:equivalentTo"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:714.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071755 {source="ORDO:90340/e", source="Orphanet:90340"} +xref: MedDRA:10071755 {source="Orphanet:90340", source="Orphanet:90340/e"} xref: MESH:C538157 {source="MONDO:equivalentTo"} xref: NCIT:C116794 {source="DOID:0050678", source="MONDO:equivalentTo"} -xref: OMIM:186580 {source="ORDO:90340/e", source="Orphanet:90340", source="DOID:0050678", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: OMIM:186580 {source="Orphanet:90340", source="DOID:0050678", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:90340/e"} xref: OMIM:609464 {source="MONDO:equivalentTo"} xref: Orphanet:90340 {source="OMIM:186580", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:90341 {source="MONDO:equivalentTo", source="OMIM:609464"} @@ -156713,7 +156682,7 @@ xref: OMIM:187260 {source="MONDO:equivalentTo"} xref: Orphanet:280774 {source="MONDO:equivalentTo"} xref: SCTID:238763007 {source="MONDO:equivalentTo"} xref: UMLS:C0406502 {source="OMIM:187260", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0473555 {source="OMIM:187260", source="MONDO:equivalentTo", source="ORDO:280774/e", source="Orphanet:280774"} +xref: UMLS:C0473555 {source="OMIM:187260", source="Orphanet:280774/e", source="MONDO:equivalentTo", source="Orphanet:280774"} is_a: MONDO:0019293 {source="Orphanet:280774", source="linkedlifedata/inferred"} ! skin vascular disease property_value: confidence "2.214285714285714" xsd:double @@ -156757,11 +156726,11 @@ name: telecanthus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98575"} synonym: "telecanthus" EXACT [OMIM:187350] -xref: ICD10CM:Q10.3 {source="Orphanet:98575", source="ORDO:98575/attributed", source="ORDO:98575/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:98575", source="Orphanet:98575/attributed", source="Orphanet:98575/ntbt"} xref: MESH:C562941 {source="MONDO:equivalentTo"} xref: OMIM:187350 {source="MONDO:equivalentTo"} xref: Orphanet:98575 {source="MONDO:equivalentTo"} -xref: UMLS:C0423113 {source="Orphanet:98575", source="OMIM:187350", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:98575/e"} +xref: UMLS:C0423113 {source="Orphanet:98575", source="OMIM:187350", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98575/e"} is_a: MONDO:0020163 {source="Orphanet:98575"} ! canthal anomaly property_value: confidence "1.1399999999999997" xsd:double @@ -156789,13 +156758,13 @@ synonym: "temporal artery inflammation" EXACT [MONDO:patterns/inflammatory_disea xref: DOID:13375 {source="MONDO:equivalentTo", source="EFO:1001209"} xref: EFO:1001209 {source="MONDO:equivalentTo"} xref: GARD:0009615 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M31.6 {source="ORDO:397/ntbt", source="Orphanet:397", source="EFO:1001209"} +xref: ICD10CM:M31.6 {source="Orphanet:397/ntbt", source="Orphanet:397", source="EFO:1001209"} xref: ICD9:446.5 {source="DOID:13375"} -xref: MedDRA:10018250 {source="ORDO:397/e", source="Orphanet:397"} -xref: MedDRA:10043207 {source="ORDO:397/e", source="Orphanet:397", source="EFO:1001209"} -xref: MESH:D013700 {source="DOID:13375", source="ORDO:397/e", source="Orphanet:397", source="EFO:1001209"} +xref: MedDRA:10018250 {source="Orphanet:397/e", source="Orphanet:397"} +xref: MedDRA:10043207 {source="Orphanet:397/e", source="Orphanet:397", source="EFO:1001209"} +xref: MESH:D013700 {source="Orphanet:397/e", source="DOID:13375", source="Orphanet:397", source="EFO:1001209"} xref: NCIT:C35065 {source="MONDO:equivalentTo", source="DOID:13375", source="EFO:1001209"} -xref: OMIM:187360 {source="MONDO:equivalentTo", source="DOID:13375", source="ORDO:397/e", source="Orphanet:397", source="EFO:1001209"} +xref: OMIM:187360 {source="Orphanet:397/e", source="MONDO:equivalentTo", source="DOID:13375", source="Orphanet:397", source="EFO:1001209"} xref: Orphanet:397 {source="OMIM:187360", source="MONDO:equivalentTo"} xref: SCTID:155442004 {source="DOID:13375"} xref: SCTID:195354005 {source="DOID:13375"} @@ -156805,8 +156774,8 @@ xref: SCTID:195357003 {source="DOID:13375"} xref: SCTID:400130008 {source="MONDO:equivalentTo", source="DOID:13375", source="EFO:1001209"} xref: SCTID:414341000 {source="DOID:13375"} xref: SCTID:87511001 {source="DOID:13375"} -xref: UMLS:C0039483 {source="OMIM:187360", source="MONDO:notFoundInDiseaseSubset", source="DOID:13375", source="ORDO:397/e", source="Orphanet:397"} -xref: UMLS:C1956391 {source="NCIT:C35065", source="NCBI:mim2gene_medline", source="OMIM:187360", source="MONDO:equivalentTo", source="ORDO:397/e", source="Orphanet:397"} +xref: UMLS:C0039483 {source="Orphanet:397/e", source="OMIM:187360", source="MONDO:notFoundInDiseaseSubset", source="DOID:13375", source="Orphanet:397"} +xref: UMLS:C1956391 {source="NCIT:C35065", source="Orphanet:397/e", source="NCBI:mim2gene_medline", source="OMIM:187360", source="MONDO:equivalentTo", source="Orphanet:397"} is_a: MONDO:0002341 {source="NCIT:C35065"} ! granulomatous angiitis is_a: MONDO:0003346 {source="DOID:13375"} ! central nervous system vasculitis is_a: MONDO:0015488 {source="Orphanet:397"} ! predominantly large-vessel vasculitis @@ -156832,7 +156801,7 @@ synonym: "Hapnes-Boman-Skeie syndrome" EXACT [Orphanet:3294] synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [OMIM:187390] xref: GARD:0002597 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C566068 {source="MONDO:equivalentTo"} -xref: OMIM:187390 {source="MONDO:equivalentTo", source="ORDO:3294/e", source="Orphanet:3294"} +xref: OMIM:187390 {source="Orphanet:3294/e", source="MONDO:equivalentTo", source="Orphanet:3294"} xref: Orphanet:3294 {source="OMIM:187390", source="MONDO:equivalentTo"} xref: UMLS:C1861237 {source="OMIM:187390", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931376 {source="MONDO:equivalentTo", source="Orphanet:3294"} @@ -156882,19 +156851,19 @@ synonym: "TOF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187500] synonym: "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [DOID:6419] xref: DOID:6419 {source="MONDO:equivalentTo"} xref: GARD:0002245 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.3 {source="Orphanet:3303", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419"} +xref: ICD10CM:Q21.3 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} xref: ICD9:745.2 {source="MONDO:equivalentTo", source="DOID:6419", source="i2s"} -xref: MedDRA:10016193 {source="Orphanet:3303", source="ORDO:3303/e"} -xref: MESH:D013771 {source="Orphanet:3303", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419"} +xref: MedDRA:10016193 {source="Orphanet:3303", source="Orphanet:3303/e"} +xref: MESH:D013771 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} xref: NCIT:C84505 {source="MONDO:equivalentTo", source="DOID:6419"} -xref: OMIM:187500 {source="Orphanet:3303", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419"} +xref: OMIM:187500 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} xref: Orphanet:3303 {source="MONDO:equivalentTo", source="OMIM:187500"} xref: SCTID:156913009 {source="DOID:6419"} xref: SCTID:204305006 {source="DOID:6419"} xref: SCTID:204307003 {source="DOID:6419"} xref: SCTID:268177006 {source="DOID:6419"} xref: SCTID:86299006 {source="MONDO:equivalentTo", source="DOID:6419"} -xref: UMLS:C0039685 {source="Orphanet:3303", source="NCBI:mim2gene_medline", source="NCIT:C84505", source="ORDO:3303/e", source="MONDO:equivalentTo", source="DOID:6419", source="OMIM:187500"} +xref: UMLS:C0039685 {source="Orphanet:3303", source="NCBI:mim2gene_medline", source="NCIT:C84505", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e", source="OMIM:187500"} is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0005453 {source="DOID:6419", source="MESH:D013771", source="NCIT:C84505", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease is_a: MONDO:0016581 {source="Orphanet:3303"} ! conotruncal heart malformations @@ -156925,9 +156894,9 @@ synonym: "Sommer-Hines syndrome" EXACT [Orphanet:2564] synonym: "tetramelic monodactyly" EXACT [OMIM:187510] synonym: "tetramelic monodactyly with autosomal dominant inheritance" RELATED [GARD:0003707] xref: GARD:0003707 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:2564", source="ORDO:2564/attributed", source="ORDO:2564/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:2564", source="Orphanet:2564/attributed", source="Orphanet:2564/ntbt"} xref: MESH:C566066 {source="MONDO:equivalentTo"} -xref: OMIM:187510 {source="Orphanet:2564", source="ORDO:2564/e", source="MONDO:equivalentTo"} +xref: OMIM:187510 {source="Orphanet:2564", source="MONDO:equivalentTo", source="Orphanet:2564/e"} xref: Orphanet:2564 {source="MONDO:equivalentTo", source="OMIM:187510"} xref: UMLS:C1861233 {source="Orphanet:2564", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187510"} is_a: MONDO:0018234 ! dysostosis @@ -156964,16 +156933,16 @@ synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical, OMIM:187600] synonym: "type 1 thanatophoric dysplasia" EXACT [NCIT:C98583] xref: GARD:0004889 {source="MONDO:equivalentTo"} xref: GARD:0009295 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.1 {source="Orphanet:1860", source="ORDO:1860/attributed", source="ORDO:1860/ntbt"} +xref: ICD10CM:Q77.1 {source="Orphanet:1860", source="Orphanet:1860/attributed", source="Orphanet:1860/ntbt"} xref: NCIT:C98583 {source="MONDO:equivalentTo"} -xref: OMIM:187600 {source="Orphanet:1860", source="ORDO:1860/e", source="MONDO:equivalentTo"} +xref: OMIM:187600 {source="Orphanet:1860", source="MONDO:equivalentTo", source="Orphanet:1860/e"} xref: OMIM:270230 {source="MONDO:equivalentObsolete", source="GARD:0004889"} xref: Orphanet:1860 {source="MONDO:equivalentTo", source="OMIM:187600"} xref: Orphanet:2655 {source="MONDO:subClassOf", source="OMIM:187600"} xref: UMLS:C1300256 {source="MONDO:equivalentTo", source="NCIT:C98583"} xref: UMLS:C1868678 {source="Orphanet:1860", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187600"} xref: UMLS:C2674173 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:187600"} -xref: UMLS:C2931282 {source="Orphanet:1860", source="ORDO:1860/e", source="GARD:0004889", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931282 {source="Orphanet:1860", source="GARD:0004889", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1860/e"} is_a: MONDO:0017042 {source="DC-OMIM:187600", source="NCIT:C98583", source="Orphanet:1860"} ! thanatophoric dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 relationship: excluded_subClassOf MONDO:0014658 ! severe achondroplasia-developmental delay-acanthosis nigricans syndrome @@ -156999,12 +156968,12 @@ synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584] synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical, OMIM:187601] synonym: "type 2 thanatophoric dysplasia" EXACT [NCIT:C98584] xref: GARD:0001402 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.1 {source="Orphanet:93274", source="ORDO:93274/attributed", source="ORDO:93274/ntbt"} +xref: ICD10CM:Q77.1 {source="Orphanet:93274", source="Orphanet:93274/attributed", source="Orphanet:93274/ntbt"} xref: ICD9:742.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536508 {source="MONDO:equivalentTo"} xref: NCIT:C98584 {source="MONDO:equivalentTo"} -xref: OMIM:156830 {source="Orphanet:93274", source="MONDO:superClassOf", source="ORDO:93274/btnt"} -xref: OMIM:187601 {source="Orphanet:93274", source="MONDO:equivalentTo", source="ORDO:93274/e"} +xref: OMIM:156830 {source="Orphanet:93274", source="Orphanet:93274/btnt", source="MONDO:superClassOf"} +xref: OMIM:187601 {source="Orphanet:93274", source="MONDO:equivalentTo", source="Orphanet:93274/e"} xref: Orphanet:2655 {source="MONDO:subClassOf", source="OMIM:187601"} xref: Orphanet:93274 {source="MONDO:equivalentTo", source="OMIM:187601"} xref: SCTID:389158007 {source="MONDO:equivalentTo"} @@ -157054,14 +157023,14 @@ synonym: "thoracolaryngopelvic dysplasia" EXACT [MONDO:Lexical, OMIM:187760] synonym: "THORACOPELVIC dysostosis" RELATED [OMIM:187770] synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187760] xref: GARD:0005184 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.2 {source="ORDO:3317/attributed", source="ORDO:3317/ntbt", source="Orphanet:3317"} -xref: MESH:C536517 {source="MONDO:equivalentTo", source="ORDO:3317/e", source="Orphanet:3317"} -xref: OMIM:187760 {source="ORDO:3317/btnt", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:3317"} -xref: OMIM:187770 {source="MONDO:equivalentTo", source="ORDO:3317/e", source="Orphanet:3317"} +xref: ICD10CM:Q77.2 {source="Orphanet:3317", source="Orphanet:3317/attributed", source="Orphanet:3317/ntbt"} +xref: MESH:C536517 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} +xref: OMIM:187760 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:3317", source="Orphanet:3317/btnt"} +xref: OMIM:187770 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} xref: Orphanet:3317 {source="MONDO:equivalentTo", source="OMIM:187770", source="OMIM:187760"} xref: SCTID:723556008 {source="MONDO:equivalentTo"} xref: UMLS:C1861196 {source="NCBI:mim2gene_medline", source="OMIM:187770", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1861197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3317/e", source="OMIM:187760", source="Orphanet:3317"} +xref: UMLS:C1861197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:187760", source="Orphanet:3317", source="Orphanet:3317/e"} is_a: MONDO:0005087 {source="MONDO:Entailed", source="Orphanet:3317", source="Orphanet:3317/inferred"} ! respiratory system disorder is_a: MONDO:0015929 {source="Orphanet:3317"} ! thoracic malformation is_a: MONDO:0015930 {source="Orphanet:3317"} ! respiratory malformation @@ -157158,7 +157127,7 @@ xref: OMIM:188000 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="MONDO:subClassOf", source="OMIM:188000"} xref: Orphanet:268322 {source="MONDO:subClassOf", source="OMIM:188000"} xref: UMLS:C1861185 {source="NCIT:C129035", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:188000"} -is_a: MONDO:0015679 {source="ORDO:168629/btnt"} ! autosomal thrombocytopenia with normal platelets +is_a: MONDO:0015679 {source="Orphanet:168629/btnt"} ! autosomal thrombocytopenia with normal platelets is_a: MONDO:0100241 {source="DC-OMIM:188000", source="MESH:C536519", source="MONDO:Redundant", source="OMIM:188000", source="indirect"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29186 ! ANKRD26 @@ -157195,13 +157164,13 @@ synonym: "thrombocytopenia Paris-Trousseau type" RELATED [GARD:0004224] synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:188025] synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [OMIM:188025, OMIM:genemap2] xref: GARD:0004224 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.4 {source="Orphanet:851", source="ORDO:851/attributed", source="ORDO:851/ntbt"} -xref: MESH:C538617 {source="Orphanet:851", source="ORDO:851/e"} -xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="ORDO:851/e"} +xref: ICD10CM:D69.4 {source="Orphanet:851", source="Orphanet:851/attributed", source="Orphanet:851/ntbt"} +xref: MESH:C538617 {source="Orphanet:851", source="Orphanet:851/e"} +xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"} xref: OMIM:617443 {source="Orphanet:851", source="MONDO:relatedTo"} xref: Orphanet:851 {source="MONDO:equivalentTo", source="OMIM:188025"} -xref: UMLS:C1861178 {source="Orphanet:851", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:188025", source="ORDO:851/e"} -xref: UMLS:C1956093 {source="Orphanet:851", source="MONDO:equivalentTo", source="ORDO:851/e"} +xref: UMLS:C1861178 {source="Orphanet:851", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="Orphanet:851/e", source="OMIM:188025"} +xref: UMLS:C1956093 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"} is_a: MONDO:0016910 {source="Orphanet:851"} ! partial deletion of the long arm of chromosome 11 is_a: MONDO:0020117 {source="Orphanet:851"} ! alpha granule disease is_a: MONDO:0100241 {source="DC-OMIM:188025", source="MONDO:Redundant", source="indirect"} ! inherited thrombocytopenia @@ -157231,12 +157200,12 @@ synonym: "werlhof's disease" RELATED [DOID:8924] xref: DOID:8924 {source="EFO:0007160", source="MONDO:equivalentTo"} xref: EFO:0007160 {source="MONDO:equivalentTo"} xref: GARD:0005194 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.3 {source="Orphanet:3002", source="DOID:8924", source="ORDO:3002/ntbt"} +xref: ICD10CM:D69.3 {source="Orphanet:3002", source="Orphanet:3002/ntbt", source="DOID:8924"} xref: ICD9:287.31 {source="DOID:8924"} -xref: MedDRA:10021245 {source="Orphanet:3002", source="ORDO:3002/e"} -xref: MESH:D016553 {source="Orphanet:3002", source="ORDO:3002/e", source="EFO:0007160", source="DOID:8924"} +xref: MedDRA:10021245 {source="Orphanet:3002", source="Orphanet:3002/e"} +xref: MESH:D016553 {source="Orphanet:3002", source="EFO:0007160", source="Orphanet:3002/e", source="DOID:8924"} xref: NCIT:C3446 {source="MONDO:equivalentTo", source="DOID:8924"} -xref: OMIM:188030 {source="Orphanet:3002", source="ORDO:3002/e", source="MONDO:equivalentTo", source="DOID:8924"} +xref: OMIM:188030 {source="Orphanet:3002", source="MONDO:equivalentTo", source="Orphanet:3002/e", source="DOID:8924"} xref: Orphanet:3002 {source="OMIM:188030", source="MONDO:equivalentTo"} xref: SCTID:13172003 {source="DOID:8924"} xref: SCTID:154825008 {source="DOID:8924"} @@ -157246,7 +157215,7 @@ xref: SCTID:234490009 {source="DOID:8924"} xref: SCTID:267567001 {source="DOID:8924"} xref: SCTID:32273002 {source="DOID:8924"} xref: UMLS:C0043117 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0398650 {source="Orphanet:3002", source="ORDO:3002/e", source="OMIM:188030", source="DOID:8924", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0398650 {source="Orphanet:3002", source="OMIM:188030", source="Orphanet:3002/e", source="DOID:8924", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0920163 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3446"} is_a: MONDO:0004680 {source="DOID:8924"} ! primary thrombocytopenia is_a: MONDO:0019098 {source="MONDO:Redundant", source="Orphanet:3002"} ! autoimmune thrombocytopenia @@ -157340,12 +157309,12 @@ synonym: "sparse hair, short stature, hypoplastic thumbs, single upper central i synonym: "thumb deformity and alopecia" RELATED [OMIM:188150] synonym: "thumb deformity, alopecia, pigmentation anomaly" RELATED [GARD:0005199] xref: GARD:0005199 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: MESH:C536904 {source="ORDO:2251/e", source="Orphanet:2251"} +xref: MESH:C536904 {source="Orphanet:2251/e", source="Orphanet:2251"} xref: MESH:C566054 {source="MONDO:equivalentTo"} -xref: OMIM:188150 {source="MONDO:equivalentTo", source="ORDO:2251/e", source="Orphanet:2251"} +xref: OMIM:188150 {source="Orphanet:2251/e", source="MONDO:equivalentTo", source="Orphanet:2251"} xref: Orphanet:2251 {source="OMIM:188150", source="MONDO:equivalentTo"} xref: UMLS:C1861168 {source="OMIM:188150", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931366 {source="MONDO:equivalentTo", source="ORDO:2251/e", source="Orphanet:2251"} +xref: UMLS:C2931366 {source="Orphanet:2251/e", source="MONDO:equivalentTo", source="Orphanet:2251"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation is_a: MONDO:0021147 {source="Orphanet:2251", source="Orphanet:2251/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -157365,12 +157334,12 @@ synonym: "thumb stiff brachydactyly mental retardation" RELATED DEPRECATED [GARD synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [OMIM:188201] xref: GARD:0004375 {source="MONDO:equivalentTo"} xref: GARD:0005200 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:1078", source="ORDO:1078/attributed", source="ORDO:1078/ntbt"} -xref: MESH:C537511 {source="ORDO:1078/e", source="Orphanet:1078"} -xref: OMIM:188201 {source="ORDO:1078/e", source="Orphanet:1078", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:1078/attributed", source="Orphanet:1078/ntbt", source="Orphanet:1078"} +xref: MESH:C537511 {source="Orphanet:1078", source="Orphanet:1078/e"} +xref: OMIM:188201 {source="Orphanet:1078", source="MONDO:equivalentTo", source="Orphanet:1078/e"} xref: Orphanet:1078 {source="MONDO:equivalentTo", source="OMIM:188201"} xref: UMLS:C1861166 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:188201"} -xref: UMLS:C2931515 {source="ORDO:1078/e", source="Orphanet:1078", source="MONDO:notFoundInDiseaseSubset", source="GARD:0004375"} +xref: UMLS:C2931515 {source="Orphanet:1078", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1078/e", source="GARD:0004375"} is_a: MONDO:0019054 {source="Orphanet:1078", source="Orphanet:1078/inferred"} ! congenital limb malformation property_value: confidence "8.333333333333334" xsd:double @@ -157416,7 +157385,7 @@ xref: UMLS:C1861129 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:188400 xref: UMLS:CN734570 {source="MONDO:equivalentTo"} is_a: MONDO:0000761 {source="DOID:11198"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0001222 {source="NCIT:C2989"} ! congenital T-cell immunodeficiency -is_a: MONDO:0018923 {source="ORDO:567/btnt"} ! 22q11.2 deletion syndrome +is_a: MONDO:0018923 {source="Orphanet:567/btnt"} ! 22q11.2 deletion syndrome is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy relationship: disease_has_location UBERON:0004117 ! pharyngeal pouch property_value: confidence "0.6726012650301525" xsd:double @@ -157433,9 +157402,9 @@ synonym: "thyroglossal duct cyst, familial" RELATED [OMIM:188455] synonym: "thyroglossal duct cysts" RELATED [GARD:0005204] synonym: "thyroglossal duct cysts familial" RELATED [GARD:0005204] xref: GARD:0005204 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q89.2 {source="ORDO:93953/ntbt", source="Orphanet:93953"} +xref: ICD10CM:Q89.2 {source="Orphanet:93953", source="Orphanet:93953/ntbt"} xref: MESH:C536909 {source="MONDO:equivalentTo"} -xref: OMIM:188455 {source="MONDO:equivalentTo", source="ORDO:93953/e", source="Orphanet:93953"} +xref: OMIM:188455 {source="MONDO:equivalentTo", source="Orphanet:93953", source="Orphanet:93953/e"} xref: Orphanet:93953 {source="MONDO:equivalentTo", source="OMIM:188455"} xref: SCTID:717331000 {source="MONDO:equivalentTo"} xref: UMLS:C1861114 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -157469,7 +157438,7 @@ xref: OMIM:188470 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:188470"} xref: UMLS:C0206682 {source="OMIM:188470", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005034 {source="MESH:C572845"} ! thyroid gland follicular carcinoma -is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma +is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma is_a: MONDO:0017896 {source="OMIM:188470"} ! familial nonmedullary thyroid carcinoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.198067632850242" xsd:double @@ -157521,7 +157490,7 @@ xref: OMIM:188570 {source="MONDO:equivalentTo"} xref: Orphanet:3221 {source="MONDO:subClassOf", source="OMIM:188570"} xref: UMLS:C2937288 {source="NCBI:mim2gene_medline", source="OMIM:188570", source="MONDO:equivalentTo"} is_a: MONDO:0001328 {source="DC-OMIM:188570", source="MESH:C567934", source="MONDO:Redundant", source="indirect"} ! thyroid hormone resistance syndrome -is_a: MONDO:0009043 {source="ORDO:3221/btnt"} ! generalized resistance to thyroid hormone +is_a: MONDO:0009043 {source="Orphanet:3221/btnt"} ! generalized resistance to thyroid hormone is_a: MONDO:0034217 ! resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11799 {source="mim2gene_medgen"} ! THRB relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -157557,7 +157526,7 @@ xref: OMIM:188700 {source="MONDO:equivalentTo"} xref: Orphanet:2768 {source="MONDO:subClassOf", source="OMIM:188700"} xref: UMLS:C0175756 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3150037 {source="MONDO:equivalentTo", source="OMIM:188700"} -is_a: MONDO:0017194 {source="ORDO:2768/btnt"} ! Blount disease +is_a: MONDO:0017194 {source="Orphanet:2768/btnt"} ! Blount disease property_value: confidence "0.9259259259259258" xsd:double [Term] @@ -157702,15 +157671,15 @@ synonym: "Witkop syndrome" EXACT [Orphanet:2228] synonym: "Witkop's syndrome" EXACT [DOID:6678] xref: DOID:6678 {source="MONDO:equivalentTo"} xref: GARD:0005587 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="ORDO:2228/attributed", source="ORDO:2228/ntbt", source="Orphanet:2228"} +xref: ICD10CM:Q82.4 {source="Orphanet:2228", source="Orphanet:2228/attributed", source="Orphanet:2228/ntbt"} xref: MESH:C536736 {source="DOID:6678", source="MONDO:equivalentTo"} xref: NCIT:C40553 {source="DOID:6678", source="MONDO:equivalentTo"} -xref: OMIM:189500 {source="DOID:6678", source="MONDO:equivalentTo", source="ORDO:2228/e", source="Orphanet:2228"} +xref: OMIM:189500 {source="DOID:6678", source="MONDO:equivalentTo", source="Orphanet:2228", source="Orphanet:2228/e"} xref: Orphanet:2228 {source="MONDO:equivalentTo", source="OMIM:189500"} xref: SCTID:239039003 {source="DOID:6678"} xref: SCTID:400036004 {source="DOID:6678", source="MONDO:equivalentTo"} xref: SCTID:68897000 {source="DOID:6678"} -xref: UMLS:C0406716 {source="ORDO:2228/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2228"} +xref: UMLS:C0406716 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2228", source="Orphanet:2228/e"} xref: UMLS:C0406735 {source="DOID:6678", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2228", source="OMIM:189500", source="NCIT:C40553"} is_a: MONDO:0002254 {source="DOID:6678", source="MONDO:0008582/inferred", source="MONDO:Redundant", source="NCIT:C40553", source="indirect"} ! syndromic disease is_a: MONDO:0019287 {source="OMIM:189500", source="Orphanet:2228", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome @@ -157778,9 +157747,9 @@ synonym: "toxemia of pregnancy" RELATED [OMIM:189800] xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"} xref: EFO:0007297 {source="MONDO:equivalentTo"} xref: GARD:0008528 {source="MONDO:equivalentTo"} -xref: ICD10CM:O14.2 {source="Orphanet:244242", source="DOID:13133", source="ORDO:244242/e"} -xref: MedDRA:10049058 {source="Orphanet:244242", source="ORDO:244242/e"} -xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="DOID:13133", source="EFO:0007297", source="ORDO:244242/e"} +xref: ICD10CM:O14.2 {source="Orphanet:244242", source="Orphanet:244242/e", source="DOID:13133"} +xref: MedDRA:10049058 {source="Orphanet:244242", source="Orphanet:244242/e"} +xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="EFO:0007297"} xref: NCIT:C84750 {source="MONDO:equivalentTo", source="DOID:13133"} xref: OMIM:189800 {source="MONDO:directSiblingOf"} xref: Orphanet:244242 {source="MONDO:equivalentTo"} @@ -157788,7 +157757,7 @@ xref: Orphanet:275555 {source="MONDO:subClassOf", source="OMIM:189800"} xref: SCTID:199010001 {source="DOID:13133"} xref: SCTID:95605009 {source="DOID:13133"} xref: UMLS:C0032914 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:189800"} -xref: UMLS:C0162739 {source="Orphanet:244242", source="MONDO:equivalentTo", source="DOID:13133", source="OMIM:189800", source="NCIT:C84750", source="ORDO:244242/e"} +xref: UMLS:C0162739 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="OMIM:189800", source="NCIT:C84750"} xref: UMLS:C0340274 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:189800"} is_a: MONDO:0001641 {source="DOID:13133"} ! severe pre-eclampsia is_a: MONDO:0002254 {source="NCIT:C84750"} ! syndromic disease @@ -157810,16 +157779,16 @@ synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [DO synonym: "tracheoesophageal fistula with or without esophageal atresia" RELATED [OMIM:189960] xref: DOID:0080171 {source="MONDO:equivalentTo"} xref: GARD:0007792 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q39.0 {source="ORDO:1199/e", source="Orphanet:1199"} -xref: ICD10CM:Q39.1 {source="ORDO:1199/e", source="Orphanet:1199"} -xref: MedDRA:10021530 {source="ORDO:1199/e", source="Orphanet:1199"} -xref: MedDRA:10030146 {source="ORDO:1199/e", source="Orphanet:1199"} +xref: ICD10CM:Q39.0 {source="Orphanet:1199", source="Orphanet:1199/e"} +xref: ICD10CM:Q39.1 {source="Orphanet:1199", source="Orphanet:1199/e"} +xref: MedDRA:10021530 {source="Orphanet:1199", source="Orphanet:1199/e"} +xref: MedDRA:10030146 {source="Orphanet:1199", source="Orphanet:1199/e"} xref: MESH:C531835 {source="MONDO:equivalentTo"} -xref: MESH:D004933 {source="ORDO:1199/e", source="MONDO:relatedTo", source="Orphanet:1199"} -xref: OMIM:189960 {source="ORDO:1199/e", source="Orphanet:1199", source="MONDO:equivalentTo", source="DOID:0080171"} +xref: MESH:D004933 {source="MONDO:relatedTo", source="Orphanet:1199", source="Orphanet:1199/e"} +xref: OMIM:189960 {source="Orphanet:1199", source="MONDO:equivalentTo", source="Orphanet:1199/e", source="DOID:0080171"} xref: Orphanet:1199 {source="MONDO:equivalentTo", source="OMIM:189960"} xref: SCTID:95435007 {source="MONDO:equivalentTo"} -xref: UMLS:C0014850 {source="ORDO:1199/e", source="Orphanet:1199", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0014850 {source="Orphanet:1199", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1199/e"} xref: UMLS:C1861028 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:189960"} is_a: MONDO:0015207 {source="Orphanet:1199"} ! non-syndromic esophageal malformation property_value: confidence "2.2500000000000004" xsd:double @@ -157834,9 +157803,9 @@ synonym: "tracheobronchopathia osteochondroplastica" EXACT [OMIM:189961] synonym: "tracheobronchopathia osteoplastica" RELATED [GARD:0005235] synonym: "tracheopathia osteoplastica" EXACT [OMIM:189961, Orphanet:3348] xref: GARD:0005235 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:J98.0 {source="ORDO:3348/ntbt", source="Orphanet:3348"} +xref: ICD10CM:J98.0 {source="Orphanet:3348", source="Orphanet:3348/ntbt"} xref: MESH:C536977 {source="MONDO:equivalentTo"} -xref: OMIM:189961 {source="ORDO:3348/e", source="MONDO:equivalentTo", source="Orphanet:3348"} +xref: OMIM:189961 {source="MONDO:equivalentTo", source="Orphanet:3348", source="Orphanet:3348/e"} xref: Orphanet:3348 {source="MONDO:equivalentTo", source="OMIM:189961"} xref: SCTID:54675009 {source="MONDO:equivalentTo"} xref: UMLS:C0520538 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3348", source="OMIM:189961"} @@ -157861,13 +157830,13 @@ synonym: "hereditary chin tremor/myoclonus" RELATED [GARD:0009501] synonym: "hereditary chin-trembling" EXACT [Orphanet:53372] synonym: "trembling Chin" RELATED [OMIM:190100] xref: GARD:0009501 {source="MONDO:equivalentTo"} -xref: ICD10CM:G25.3 {source="ORDO:53372/attributed", source="ORDO:53372/ntbt", source="Orphanet:53372"} -xref: MESH:C537682 {source="MONDO:equivalentTo", source="ORDO:53372/e", source="Orphanet:53372"} -xref: OMIM:190100 {source="MONDO:equivalentTo", source="ORDO:53372/e", source="Orphanet:53372"} +xref: ICD10CM:G25.3 {source="Orphanet:53372/attributed", source="Orphanet:53372/ntbt", source="Orphanet:53372"} +xref: MESH:C537682 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} +xref: OMIM:190100 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} xref: Orphanet:53372 {source="OMIM:190100", source="MONDO:equivalentTo"} xref: SCTID:718103001 {source="MONDO:equivalentTo"} xref: UMLS:C1860972 {source="OMIM:190100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931589 {source="MONDO:equivalentTo", source="ORDO:53372/e", source="Orphanet:53372"} +xref: UMLS:C2931589 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"} is_a: MONDO:0005395 {source="Orphanet:53372"} ! movement disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0017644"} ! rare property_value: confidence "2.692307692307692" xsd:double @@ -157920,7 +157889,7 @@ synonym: "tremor nystagmus duodenal ulcer" RELATED [GARD:0003948] synonym: "tremor, NYSTAGMUS, and duodenal ulcer" RELATED [OMIM:190310] xref: GARD:0003948 {source="MONDO:equivalentTo"} xref: MESH:C536406 {source="MONDO:equivalentTo"} -xref: OMIM:190310 {source="MONDO:equivalentTo", source="GARD:0003948", source="Orphanet:3350", source="ORDO:3350/e"} +xref: OMIM:190310 {source="Orphanet:3350/e", source="MONDO:equivalentTo", source="GARD:0003948", source="Orphanet:3350"} xref: Orphanet:3350 {source="OMIM:190310", source="MONDO:equivalentTo"} xref: UMLS:C1860860 {source="OMIM:190310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0003948", source="Orphanet:3350"} is_a: MONDO:0005395 {source="Orphanet:3350"} ! movement disorder @@ -157944,13 +157913,13 @@ synonym: "trichodontoosseous syndrome" EXACT [OMIM:190320, OMIM:genemap2] xref: DOID:0111565 {source="MONDO:equivalentTo"} xref: GARD:0005252 {source="MONDO:equivalentTo"} xref: GARD:0007799 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="ORDO:3352/attributed", source="ORDO:3352/ntbt", source="Orphanet:3352"} +xref: ICD10CM:Q82.4 {source="Orphanet:3352/attributed", source="Orphanet:3352/ntbt", source="Orphanet:3352"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536549 {source="MONDO:equivalentTo", source="Orphanet:3352", source="ORDO:3352/e"} -xref: OMIM:190320 {source="MONDO:equivalentTo", source="GARD:0005252", source="Orphanet:3352", source="ORDO:3352/e"} +xref: MESH:C536549 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="Orphanet:3352"} +xref: OMIM:190320 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="GARD:0005252", source="Orphanet:3352"} xref: Orphanet:3352 {source="OMIM:190320", source="MONDO:equivalentTo"} xref: SCTID:38993008 {source="MONDO:equivalentTo"} -xref: UMLS:C0265333 {source="OMIM:190320", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3352", source="ORDO:3352/e"} +xref: UMLS:C0265333 {source="OMIM:190320", source="Orphanet:3352/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3352"} xref: UMLS:C2931236 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005252"} is_a: MONDO:0019282 {source="Orphanet:3352"} ! syndromic hair shaft abnormality is_a: MONDO:0019287 {source="Orphanet:3352", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome @@ -158030,7 +157999,7 @@ xref: SCTID:254091006 {source="MONDO:equivalentTo", source="DOID:14743"} xref: UMLS:C0432233 {source="NCIT:C75109", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:190350", source="DOID:14743"} is_a: MONDO:0000426 {source="DOID:14743", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="NCIT:C75109"} ! syndromic disease -is_a: MONDO:0019176 {source="ORDO:77258/btnt"} ! trichorhinophalangeal syndrome type I or III +is_a: MONDO:0019176 {source="Orphanet:77258/btnt"} ! trichorhinophalangeal syndrome type I or III relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12340 {source="mim2gene_medgen"} ! TRPS1 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:190350"} ! Autosomal dominant inheritance @@ -158049,7 +158018,7 @@ xref: GARD:0007802 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:190351 {source="MONDO:equivalentTo"} xref: Orphanet:77258 {source="MONDO:subClassOf", source="OMIM:190351"} xref: UMLS:C1860823 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:190351"} -is_a: MONDO:0019176 {source="ORDO:77258/btnt"} ! trichorhinophalangeal syndrome type I or III +is_a: MONDO:0019176 {source="Orphanet:77258/btnt"} ! trichorhinophalangeal syndrome type I or III relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12340 {source="mim2gene_medgen"} ! TRPS1 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:190351"} ! Autosomal dominant inheritance @@ -158062,7 +158031,7 @@ synonym: "trichodysplasia xeroderma" RELATED [GARD:0005261] synonym: "trichodysplasia-xeroderma" RELATED [OMIM:190360] xref: GARD:0005261 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MESH:C566032 {source="MONDO:equivalentTo"} -xref: OMIM:190360 {source="MONDO:equivalentTo", source="Orphanet:3361", source="ORDO:3361/e"} +xref: OMIM:190360 {source="Orphanet:3361/e", source="MONDO:equivalentTo", source="Orphanet:3361"} xref: Orphanet:3361 {source="MONDO:equivalentTo", source="OMIM:190360"} xref: UMLS:C1860822 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3361", source="OMIM:190360"} is_a: MONDO:0019282 {source="Orphanet:3361"} ! syndromic hair shaft abnormality @@ -158083,17 +158052,17 @@ synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD9CM:350.1, OMIM:190400] xref: DOID:12098 {source="MONDO:equivalentTo", source="EFO:1001219"} xref: EFO:1001219 {source="MONDO:equivalentTo"} xref: GARD:0007805 {source="MONDO:equivalentTo"} -xref: ICD10CM:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"} +xref: ICD10CM:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: ICD9:350.1 {source="MONDO:equivalentTo", source="DOID:12098", source="i2s"} -xref: MedDRA:10044652 {source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"} -xref: MESH:D014277 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"} -xref: OMIM:190400 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e", source="EFO:1001219"} +xref: MedDRA:10044652 {source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} +xref: MESH:D014277 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} +xref: OMIM:190400 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: Orphanet:221091 {source="OMIM:190400", source="MONDO:equivalentTo"} xref: SCTID:155066002 {source="DOID:12098"} xref: SCTID:193090007 {source="DOID:12098"} xref: SCTID:31681005 {source="MONDO:equivalentTo", source="DOID:12098", source="EFO:1001219"} xref: SCTID:322769008 {source="DOID:12098"} -xref: UMLS:C0040997 {source="OMIM:190400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="ORDO:221091/e"} +xref: UMLS:C0040997 {source="OMIM:190400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="Orphanet:221091/e"} is_a: MONDO:0002602 {source="ISBN-13:978-1259644030"} ! central nervous system disorder is_a: MONDO:0003543 {source="DOID:12098", source="MESH:D014277", source="MONDO:Redundant", source="linkedlifedata"} ! trigeminal nerve disorder is_a: MONDO:0016374 {source="MONDO:Redundant", source="Orphanet:221091"} ! cranial neuralgia @@ -158152,7 +158121,7 @@ xref: OMIM:190440 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="MONDO:subClassOf", source="OMIM:190440"} xref: UMLS:C0432122 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:190440"} is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:190440", source="indirect"} ! trigonocephaly -is_a: MONDO:0018065 {source="MONDO:Redundant", source="ORDO:3366/btnt"} ! isolated trigonocephaly +is_a: MONDO:0018065 {source="MONDO:Redundant", source="Orphanet:3366/btnt"} ! isolated trigonocephaly intersection_of: MONDO:0018065 ! isolated trigonocephaly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3688 ! FGFR1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3688 {source="mim2gene_medgen"} ! FGFR1 @@ -158191,11 +158160,11 @@ synonym: "polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, c synonym: "triphalangeal thumbs and dislocation of patella" RELATED [OMIM:190650] synonym: "triphalangeal thumbs-dislocation of patella syndrome" EXACT [Orphanet:3133] xref: GARD:0000242 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:3133", source="ORDO:3133/attributed", source="ORDO:3133/ntbt"} -xref: MESH:C536619 {source="Orphanet:3133", source="MONDO:equivalentTo", source="ORDO:3133/e"} -xref: OMIM:190650 {source="Orphanet:3133", source="MONDO:equivalentTo", source="ORDO:3133/e"} +xref: ICD10CM:Q74.8 {source="Orphanet:3133", source="Orphanet:3133/attributed", source="Orphanet:3133/ntbt"} +xref: MESH:C536619 {source="Orphanet:3133", source="MONDO:equivalentTo", source="Orphanet:3133/e"} +xref: OMIM:190650 {source="Orphanet:3133", source="MONDO:equivalentTo", source="Orphanet:3133/e"} xref: Orphanet:3133 {source="OMIM:190650", source="MONDO:equivalentTo"} -xref: UMLS:C1860805 {source="OMIM:190650", source="Orphanet:3133", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3133/e"} +xref: UMLS:C1860805 {source="OMIM:190650", source="Orphanet:3133", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3133/e"} is_a: MONDO:0019054 {source="Orphanet:3133"} ! congenital limb malformation property_value: confidence "8.6" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome xsd:anyURI {source="GARD:0000242"} @@ -158211,11 +158180,11 @@ synonym: "triphalangeal thumb and brachyectrodactyly syndrome" RELATED [GARD:000 synonym: "triphalangeal thumbs brachyectrodactyly" RELATED [GARD:0005290] synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [OMIM:190680] xref: GARD:0005290 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.8 {source="ORDO:2947/attributed", source="ORDO:2947/ntbt", source="Orphanet:2947"} -xref: MESH:C536564 {source="MONDO:equivalentTo", source="ORDO:2947/e", source="Orphanet:2947"} -xref: OMIM:190680 {source="MONDO:equivalentTo", source="ORDO:2947/e", source="Orphanet:2947"} +xref: ICD10CM:Q74.8 {source="Orphanet:2947/attributed", source="Orphanet:2947/ntbt", source="Orphanet:2947"} +xref: MESH:C536564 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"} +xref: OMIM:190680 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"} xref: Orphanet:2947 {source="MONDO:equivalentTo", source="OMIM:190680"} -xref: UMLS:C1860804 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2947/e", source="OMIM:190680", source="Orphanet:2947"} +xref: UMLS:C1860804 {source="Orphanet:2947/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:190680", source="Orphanet:2947"} is_a: MONDO:0019054 {source="Orphanet:2947"} ! congenital limb malformation property_value: confidence "7.125" xsd:double @@ -158244,25 +158213,25 @@ xref: DOID:14250 {source="EFO:0001064", source="MONDO:equivalentTo"} xref: EFO:0001064 {source="MONDO:equivalentTo"} xref: GARD:0010247 {source="MONDO:equivalentTo"} xref: ICD10CM:Q90 {source="DOID:14250"} -xref: ICD10CM:Q90.0 {source="ORDO:870/btnt", source="ORDO:870/specific", source="Orphanet:870"} -xref: ICD10CM:Q90.1 {source="ORDO:870/btnt", source="ORDO:870/specific", source="Orphanet:870"} -xref: ICD10CM:Q90.2 {source="ORDO:870/btnt", source="ORDO:870/specific", source="Orphanet:870"} -xref: ICD10CM:Q90.9 {source="ORDO:870/btnt", source="DOID:14250", source="ORDO:870/specific", source="Orphanet:870"} +xref: ICD10CM:Q90.0 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} +xref: ICD10CM:Q90.1 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} +xref: ICD10CM:Q90.2 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} +xref: ICD10CM:Q90.9 {source="Orphanet:870/specific", source="DOID:14250", source="Orphanet:870/btnt", source="Orphanet:870"} xref: ICD9:758.0 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10044688 {source="ORDO:870/e", source="Orphanet:870"} -xref: MESH:D004314 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="ORDO:870/e", source="Orphanet:870"} +xref: MedDRA:10044688 {source="Orphanet:870/e", source="Orphanet:870"} +xref: MESH:D004314 {source="EFO:0001064", source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"} xref: NCIT:C101222 {source="DOID:14250"} xref: NCIT:C2993 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"} xref: NCIT:C43224 xref: NIFSTD:nlx_dys_20090502 {source="EFO:0001064"} -xref: OMIM:190685 {source="DOID:14250", source="MONDO:equivalentTo", source="ORDO:870/e", source="Orphanet:870"} +xref: OMIM:190685 {source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"} xref: Orphanet:870 {source="OMIM:190685", source="MONDO:equivalentTo"} xref: SCTID:157019002 {source="DOID:14250"} xref: SCTID:205614001 {source="DOID:14250"} xref: SCTID:205618003 {source="DOID:14250"} xref: SCTID:254263008 {source="DOID:14250"} xref: SCTID:41040004 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"} -xref: UMLS:C0013080 {source="OMIM:190685", source="DOID:14250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C2993", source="ORDO:870/e", source="Orphanet:870"} +xref: UMLS:C0013080 {source="Orphanet:870/e", source="OMIM:190685", source="DOID:14250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C2993", source="Orphanet:870"} xref: UMLS:C1860786 {source="OMIM:190685", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1860787 {source="OMIM:190685", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1860788 {source="OMIM:190685", source="MONDO:notFoundInDiseaseSubset"} @@ -158308,11 +158277,11 @@ synonym: "tritan colour blindness" EXACT [Orphanet:88629] synonym: "tritan defect" EXACT [DOID:11661, ICD9CM:368.53] synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900] xref: DOID:11661 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.5 {source="ORDO:88629/ntbt", source="Orphanet:88629", source="ORDO:88629/inclusion"} +xref: ICD10CM:H53.5 {source="Orphanet:88629/inclusion", source="Orphanet:88629", source="Orphanet:88629/ntbt"} xref: ICD10CM:H53.55 {source="DOID:11661"} xref: ICD9:368.53 {source="MONDO:equivalentTo", source="i2s", source="DOID:11661"} xref: MESH:D003117 {source="DOID:11661"} -xref: OMIM:190900 {source="MONDO:equivalentTo", source="ORDO:88629/e", source="Orphanet:88629", source="DOID:11661"} +xref: OMIM:190900 {source="MONDO:equivalentTo", source="Orphanet:88629", source="DOID:11661", source="Orphanet:88629/e"} xref: Orphanet:88629 {source="MONDO:equivalentTo", source="OMIM:190900"} xref: SCTID:51886007 {source="MONDO:equivalentTo", source="DOID:11661"} xref: SCTID:85049009 {source="DOID:11661"} @@ -158331,9 +158300,9 @@ synonym: "aplasia of trochlea of the humerus" RELATED [GARD:0002750] synonym: "trochlea of the humerus aplasia of" RELATED [GARD:0002750] synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [OMIM:191000] xref: GARD:0002750 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.0 {source="Orphanet:3383", source="ORDO:3383/attributed", source="ORDO:3383/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:3383/attributed", source="Orphanet:3383/ntbt", source="Orphanet:3383"} xref: MESH:C566022 {source="MONDO:equivalentTo"} -xref: OMIM:191000 {source="MONDO:equivalentTo", source="Orphanet:3383", source="ORDO:3383/e"} +xref: OMIM:191000 {source="Orphanet:3383/e", source="MONDO:equivalentTo", source="Orphanet:3383"} xref: Orphanet:3383 {source="MONDO:equivalentTo", source="OMIM:191000"} xref: SCTID:732928005 {source="MONDO:equivalentTo"} xref: UMLS:C1860773 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3383", source="OMIM:191000"} @@ -158368,7 +158337,7 @@ is_a: MONDO:0001734 {source="DC-OMIM:191100", source="MONDO:Redundant", source=" intersection_of: MONDO:0001734 ! tuberous sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12362 ! TSC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12362 {source="mim2gene_medgen"} ! TSC1 -relationship: excluded_subClassOf MONDO:0019341 {source="ORDO:805/btnt"} ! tuberous sclerosis complex +relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt"} ! tuberous sclerosis complex relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:191100"} ! Autosomal dominant inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.1527777777777777" xsd:double @@ -158452,12 +158421,12 @@ synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [OMIM:191400, Orphanet:2 synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634] synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400] xref: GARD:0003555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:2634/attributed", source="ORDO:2634/ntbt", source="Orphanet:2634"} -xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="ORDO:2634/e"} -xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="ORDO:2634/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:2634", source="Orphanet:2634/attributed", source="Orphanet:2634/ntbt"} +xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} +xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} xref: Orphanet:2634 {source="OMIM:191400", source="MONDO:equivalentTo"} xref: SCTID:715472000 {source="MONDO:equivalentTo"} -xref: UMLS:C1860616 {source="OMIM:191400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2634", source="ORDO:2634/e"} +xref: UMLS:C1860616 {source="OMIM:191400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} is_a: MONDO:0019697 {source="Orphanet:2634"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "9.0" xsd:double @@ -158474,12 +158443,12 @@ synonym: "Rosenberg Lohr syndrome" RELATED [GARD:0004740] synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837] synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420] xref: GARD:0004740 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.5 {source="Orphanet:1837", source="ORDO:1837/attributed", source="ORDO:1837/ntbt"} -xref: MESH:C536935 {source="MONDO:equivalentTo", source="Orphanet:1837", source="ORDO:1837/e"} -xref: OMIM:191420 {source="MONDO:equivalentTo", source="Orphanet:1837", source="ORDO:1837/e"} +xref: ICD10CM:Q78.5 {source="Orphanet:1837/attributed", source="Orphanet:1837/ntbt", source="Orphanet:1837"} +xref: MESH:C536935 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} +xref: OMIM:191420 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} xref: Orphanet:1837 {source="OMIM:191420", source="MONDO:equivalentTo"} xref: SCTID:715242008 {source="MONDO:equivalentTo"} -xref: UMLS:C1860615 {source="OMIM:191420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1837", source="ORDO:1837/e"} +xref: UMLS:C1860615 {source="OMIM:191420", source="Orphanet:1837/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1837"} is_a: MONDO:0019693 {source="Orphanet:1837"} ! multiple metaphyseal dysplasia property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome xsd:anyURI {source="GARD:0004740"} @@ -158495,11 +158464,11 @@ synonym: "ulna hypoplasia" RELATED [Orphanet:2497] synonym: "ulnar hypoplasia" RELATED [OMIM:191440] synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440] xref: GARD:0002408 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="Orphanet:2497", source="ORDO:2497/attributed", source="ORDO:2497/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:2497/attributed", source="Orphanet:2497/ntbt", source="Orphanet:2497"} xref: MESH:C538069 {source="MONDO:equivalentTo"} -xref: OMIM:191440 {source="ORDO:2497/e", source="Orphanet:2497", source="MONDO:equivalentTo"} +xref: OMIM:191440 {source="Orphanet:2497", source="MONDO:equivalentTo", source="Orphanet:2497/e"} xref: Orphanet:2497 {source="MONDO:equivalentTo", source="OMIM:191440"} -xref: UMLS:C1860614 {source="ORDO:2497/e", source="Orphanet:2497", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:191440"} +xref: UMLS:C1860614 {source="Orphanet:2497", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2497/e", source="OMIM:191440"} is_a: MONDO:0019697 {source="Orphanet:2497"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "9.0" xsd:double @@ -158515,14 +158484,14 @@ synonym: "spun glass hair" RELATED [GARD:0005404] synonym: "uncombable hair syndrome" EXACT [OMIM:191480] synonym: "unmanageable hair syndrome" RELATED [GARD:0005404] xref: GARD:0005404 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.1 {source="Orphanet:1410", source="ORDO:1410/attributed", source="ORDO:1410/ntbt"} -xref: MESH:C536939 {source="ORDO:1410/e", source="Orphanet:1410", source="MONDO:equivalentTo"} -xref: OMIM:191480 {source="ORDO:1410/e", source="Orphanet:1410", source="MONDO:superClassOf"} +xref: ICD10CM:Q84.1 {source="Orphanet:1410/attributed", source="Orphanet:1410/ntbt", source="Orphanet:1410"} +xref: MESH:C536939 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"} +xref: OMIM:191480 {source="Orphanet:1410", source="MONDO:superClassOf", source="Orphanet:1410/e"} xref: OMIM:617251 {source="Orphanet:1410", source="MONDO:superClassOf"} xref: OMIM:617252 {source="Orphanet:1410", source="MONDO:superClassOf"} xref: Orphanet:1410 {source="MONDO:equivalentTo", source="OMIM:191480"} xref: SCTID:254230001 {source="MONDO:equivalentTo"} -xref: UMLS:C0432347 {source="ORDO:1410/e", source="NCBI:mim2gene_medline", source="Orphanet:1410", source="MONDO:equivalentTo", source="OMIM:191480"} +xref: UMLS:C0432347 {source="NCBI:mim2gene_medline", source="Orphanet:1410", source="MONDO:equivalentTo", source="OMIM:191480", source="Orphanet:1410/e"} is_a: MONDO:0019281 {source="Orphanet:1410"} ! isolated genetic hair shaft abnormality property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome xsd:anyURI {source="GARD:0005404"} @@ -158536,9 +158505,9 @@ synonym: "Bork syndrome" EXACT [OMIM:191482, Orphanet:1264] synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [OMIM:191482] synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264] xref: GARD:0000938 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="Orphanet:1264", source="ORDO:1264/attributed", source="ORDO:1264/ntbt"} +xref: ICD10CM:Q82.4 {source="Orphanet:1264", source="Orphanet:1264/attributed", source="Orphanet:1264/ntbt"} xref: MESH:C536576 {source="MONDO:equivalentTo"} -xref: OMIM:191482 {source="Orphanet:1264", source="ORDO:1264/e", source="MONDO:equivalentTo"} +xref: OMIM:191482 {source="Orphanet:1264", source="MONDO:equivalentTo", source="Orphanet:1264/e"} xref: Orphanet:1264 {source="MONDO:equivalentTo", source="OMIM:191482"} xref: SCTID:719910004 {source="MONDO:equivalentTo"} xref: UMLS:C1860605 {source="Orphanet:1264", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191482"} @@ -158566,12 +158535,12 @@ synonym: "hip dysplasia-enchondromata-ecchondroma syndrome" EXACT [Orphanet:3408 synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [OMIM:191520] synonym: "Upington disease" EXACT [OMIM:191520] xref: GARD:0005421 {source="MONDO:equivalentTo"} -xref: ICD10CM:M91.8 {source="ORDO:3408/attributed", source="ORDO:3408/ntbt", source="Orphanet:3408"} -xref: MESH:C536472 {source="MONDO:equivalentTo", source="Orphanet:3408", source="ORDO:3408/e"} -xref: OMIM:191520 {source="MONDO:equivalentTo", source="Orphanet:3408", source="ORDO:3408/e"} +xref: ICD10CM:M91.8 {source="Orphanet:3408", source="Orphanet:3408/attributed", source="Orphanet:3408/ntbt"} +xref: MESH:C536472 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} +xref: OMIM:191520 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} xref: Orphanet:3408 {source="OMIM:191520", source="MONDO:equivalentTo"} xref: SCTID:719041000 {source="MONDO:equivalentTo"} -xref: UMLS:C1860596 {source="OMIM:191520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3408", source="ORDO:3408/e"} +xref: UMLS:C1860596 {source="OMIM:191520", source="Orphanet:3408/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3408"} is_a: MONDO:0002081 {source="GARD:0005421"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="OMIM:191520"} ! Mendelian disease relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:3408"} ! obsolete primary bone dysplasia with disorganized development of skeletal components @@ -158713,14 +158682,14 @@ synonym: "urticaria, deafness and amyloidosis" RELATED [GARD:0008472] synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900] xref: DOID:0050854 {source="MONDO:equivalentTo"} xref: GARD:0008472 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E85.0 {source="ORDO:575/attributed", source="ORDO:575/ntbt", source="Orphanet:575"} +xref: ICD10CM:E85.0 {source="Orphanet:575/attributed", source="Orphanet:575/ntbt", source="Orphanet:575"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10064569 {source="ORDO:575/e", source="Orphanet:575"} +xref: MedDRA:10064569 {source="Orphanet:575/e", source="Orphanet:575"} xref: NCIT:C119054 {source="MONDO:equivalentTo"} -xref: OMIM:191900 {source="MONDO:equivalentTo", source="ORDO:575/e", source="Orphanet:575"} +xref: OMIM:191900 {source="Orphanet:575/e", source="MONDO:equivalentTo", source="Orphanet:575"} xref: Orphanet:575 {source="MONDO:equivalentTo", source="OMIM:191900"} xref: SCTID:402417009 {source="MONDO:equivalentTo"} -xref: UMLS:C0268390 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191900", source="ORDO:575/e", source="Orphanet:575", source="NCIT:C119054"} +xref: UMLS:C0268390 {source="Orphanet:575/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:191900", source="Orphanet:575", source="NCIT:C119054"} xref: UMLS:C1304205 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050854", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0016168 {source="OMIM:191900", source="Orphanet:575"} ! cryopyrin-associated periodic syndrome @@ -158761,7 +158730,7 @@ synonym: "OHVIRA syndrome" EXACT [Orphanet:3411] synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [OMIM:192050] synonym: "Wunderlich syndrome" EXACT [Orphanet:3411] xref: MESH:C566010 {source="MONDO:equivalentTo"} -xref: OMIM:192050 {source="Orphanet:3411", source="ORDO:3411/e", source="MONDO:equivalentTo"} +xref: OMIM:192050 {source="Orphanet:3411", source="MONDO:equivalentTo", source="Orphanet:3411/e"} xref: Orphanet:3411 {source="MONDO:equivalentTo", source="OMIM:192050"} xref: SCTID:722431007 {source="MONDO:equivalentTo"} xref: UMLS:C1860549 {source="Orphanet:3411", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:192050"} @@ -158779,7 +158748,7 @@ synonym: "bifidity of the uvula" EXACT [Orphanet:99771] synonym: "uvula, bifid" RELATED [OMIM:192100] synonym: "uvula, cleft" RELATED [OMIM:192100] synonym: "uvular cleft" EXACT [Orphanet:99771] -xref: ICD10CM:Q35.7 {source="ORDO:99771/e", source="Orphanet:99771"} +xref: ICD10CM:Q35.7 {source="Orphanet:99771/e", source="Orphanet:99771"} xref: OMIM:192100 {source="MONDO:equivalentTo"} xref: Orphanet:99771 {source="MONDO:equivalentTo"} xref: SCTID:18910001 {source="MONDO:equivalentTo"} @@ -158872,7 +158841,7 @@ xref: GARD:0001217 {source="MONDO:equivalentTo", source="Orphanet:247691"} xref: GARD:0002558 {source="Orphanet:3421", source="MONDO:equivalentTo"} xref: GARD:0010535 {source="MONDO:equivalentTo"} xref: MESH:C566007 {source="MONDO:equivalentTo"} -xref: OMIM:192315 {source="MONDO:equivalentTo", source="GARD:0010535", source="GARD:0001217", source="Orphanet:247691", source="ORDO:247691/e"} +xref: OMIM:192315 {source="Orphanet:247691/e", source="MONDO:equivalentTo", source="GARD:0010535", source="GARD:0001217", source="Orphanet:247691"} xref: Orphanet:247691 {source="OMIM:192315", source="MONDO:equivalentTo", source="GARD:0001217"} xref: Orphanet:3421 {source="OMIM:192315", source="MONDO:obsolete"} xref: Orphanet:63261 {source="OMIM:192315"} @@ -158905,20 +158874,20 @@ synonym: "VATER/VACTERL association" RELATED [OMIM:192350] synonym: "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" EXACT [NCIT:C99105] xref: DOID:14679 {source="MONDO:equivalentTo"} xref: GARD:0005443 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="DOID:14679", source="Orphanet:887", source="ORDO:887/inclusion", source="ORDO:887/ntbt"} +xref: ICD10CM:Q87.2 {source="DOID:14679", source="Orphanet:887/inclusion", source="Orphanet:887", source="Orphanet:887/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053665 {source="ORDO:887/e", source="Orphanet:887"} -xref: MedDRA:10066022 {source="ORDO:887/e", source="Orphanet:887"} -xref: MESH:C536495 {source="ORDO:887/e", source="Orphanet:887"} -xref: MESH:C536534 {source="DOID:14679", source="ORDO:887/e", source="Orphanet:887"} +xref: MedDRA:10053665 {source="Orphanet:887", source="Orphanet:887/e"} +xref: MedDRA:10066022 {source="Orphanet:887", source="Orphanet:887/e"} +xref: MESH:C536495 {source="Orphanet:887", source="Orphanet:887/e"} +xref: MESH:C536534 {source="DOID:14679", source="Orphanet:887", source="Orphanet:887/e"} xref: NCIT:C99105 {source="MONDO:equivalentTo"} -xref: OMIM:192350 {source="DOID:14679", source="ORDO:887/e", source="Orphanet:887", source="MONDO:equivalentTo"} +xref: OMIM:192350 {source="DOID:14679", source="Orphanet:887", source="MONDO:equivalentTo", source="Orphanet:887/e"} xref: OMIM:276950 {source="DOID:14679", source="MONDO:superClassOf"} xref: Orphanet:887 {source="MONDO:equivalentTo", source="OMIM:192350"} xref: SCTID:205830006 {source="DOID:14679"} xref: SCTID:27742002 {source="DOID:14679", source="MONDO:equivalentTo"} -xref: UMLS:C0220708 {source="DOID:14679", source="ORDO:887/e", source="Orphanet:887", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:192350"} -xref: UMLS:C1735591 {source="ORDO:887/e", source="Orphanet:887", source="MONDO:equivalentTo", source="OMIM:192350", source="NCIT:C99105"} +xref: UMLS:C0220708 {source="DOID:14679", source="Orphanet:887", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:887/e", source="OMIM:192350"} +xref: UMLS:C1735591 {source="Orphanet:887", source="MONDO:equivalentTo", source="Orphanet:887/e", source="OMIM:192350", source="NCIT:C99105"} xref: UMLS:CN206312 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:14679", source="MONDO:Redundant", source="NCIT:C99105", source="indirect"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:887"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -158958,7 +158927,7 @@ xref: SCTID:83092002 {source="DOID:12583"} xref: UMLS:C0220704 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:12583", source="OMIM:192430"} xref: UMLS:CN205308 {source="MONDO:equivalentTo"} is_a: MONDO:0000761 {source="DOID:12583"} ! syndrome caused by partial chromosomal deletion -is_a: MONDO:0018923 {source="ORDO:567/btnt"} ! 22q11.2 deletion syndrome +is_a: MONDO:0018923 {source="Orphanet:567/btnt"} ! 22q11.2 deletion syndrome property_value: confidence "0.6726012650301525" xsd:double [Term] @@ -158971,9 +158940,9 @@ synonym: "ventricular extrasystoles perodactyly Robin sequence" RELATED [GARD:00 synonym: "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence" RELATED [GARD:0005472] synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [OMIM:192445] xref: GARD:0005472 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3201", source="ORDO:3201/attributed", source="ORDO:3201/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3201/attributed", source="Orphanet:3201/ntbt", source="Orphanet:3201"} xref: MESH:C537497 {source="MONDO:equivalentTo"} -xref: OMIM:192445 {source="ORDO:3201/e", source="Orphanet:3201", source="MONDO:equivalentTo"} +xref: OMIM:192445 {source="Orphanet:3201", source="MONDO:equivalentTo", source="Orphanet:3201/e"} xref: Orphanet:3201 {source="OMIM:192445", source="MONDO:equivalentTo"} xref: SCTID:719823007 {source="MONDO:equivalentTo"} xref: UMLS:C1860471 {source="OMIM:192445", source="Orphanet:3201", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -159067,13 +159036,13 @@ synonym: "vertebral fusion posterior lumbosacral blepharoptosis" RELATED [GARD:0 synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [OMIM:192800] xref: GARD:0002276 {source="MONDO:equivalentTo"} xref: GARD:0005487 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:2064/attributed", source="ORDO:2064/ntbt", source="Orphanet:2064"} -xref: MESH:C536344 {source="MONDO:equivalentTo", source="ORDO:2064/e", source="Orphanet:2064"} -xref: OMIM:192800 {source="GARD:0002276", source="MONDO:equivalentTo", source="ORDO:2064/e", source="Orphanet:2064"} +xref: ICD10CM:Q87.5 {source="Orphanet:2064/attributed", source="Orphanet:2064/ntbt", source="Orphanet:2064"} +xref: MESH:C536344 {source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} +xref: OMIM:192800 {source="GARD:0002276", source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} xref: Orphanet:1983 {source="GARD:0002276"} xref: Orphanet:2064 {source="OMIM:192800", source="MONDO:equivalentTo"} xref: SCTID:724064004 {source="MONDO:equivalentTo"} -xref: UMLS:C1860464 {source="OMIM:192800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2064/e", source="Orphanet:2064"} +xref: UMLS:C1860464 {source="OMIM:192800", source="NCBI:mim2gene_medline", source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2064", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2064", source="Orphanet:2064/inferred"} ! disorder of development or morphogenesis @@ -159110,14 +159079,14 @@ synonym: "vertical talus" RELATED [GARD:0005488] synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM:192950] xref: DOID:0111568 {source="MONDO:equivalentTo"} xref: GARD:0005488 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q66.8 {source="ORDO:178382/inclusion", source="Orphanet:178382", source="ORDO:178382/ntbt"} +xref: ICD10CM:Q66.8 {source="Orphanet:178382/ntbt", source="Orphanet:178382/inclusion", source="Orphanet:178382"} xref: ICD9:755.67 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066242 {source="Orphanet:178382", source="ORDO:178382/e"} +xref: MedDRA:10066242 {source="Orphanet:178382/e", source="Orphanet:178382"} xref: MESH:C536345 {source="MONDO:equivalentTo"} -xref: OMIM:192950 {source="MONDO:equivalentTo", source="Orphanet:178382", source="ORDO:178382/e"} +xref: OMIM:192950 {source="Orphanet:178382/e", source="MONDO:equivalentTo", source="Orphanet:178382"} xref: Orphanet:178382 {source="OMIM:192950", source="MONDO:equivalentTo"} xref: SCTID:205082007 {source="MONDO:equivalentTo"} -xref: UMLS:C0240912 {source="OMIM:192950", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:178382", source="ORDO:178382/e"} +xref: UMLS:C0240912 {source="OMIM:192950", source="Orphanet:178382/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:178382"} is_a: MONDO:0017427 {source="Orphanet:178382"} ! congenital deformities of limbs relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5133 {source="mim2gene_medgen"} ! HOXD10 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -159208,9 +159177,9 @@ synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [OMIM synonym: "transcobalamin I deficiency" EXACT [OMIM:193090] synonym: "transcobalamin-1 deficiency" EXACT [Orphanet:2967] xref: GARD:0005239 {source="MONDO:equivalentTo"} -xref: ICD10CM:E53.8 {source="ORDO:2967/attributed", source="ORDO:2967/ntbt", source="Orphanet:2967"} +xref: ICD10CM:E53.8 {source="Orphanet:2967/attributed", source="Orphanet:2967/ntbt", source="Orphanet:2967"} xref: MESH:C562798 {source="MONDO:equivalentTo"} -xref: OMIM:193090 {source="MONDO:equivalentTo", source="ORDO:2967/e", source="Orphanet:2967"} +xref: OMIM:193090 {source="Orphanet:2967/e", source="MONDO:equivalentTo", source="Orphanet:2967"} xref: Orphanet:2967 {source="OMIM:193090", source="MONDO:equivalentTo"} xref: SCTID:237933007 {source="MONDO:equivalentTo"} xref: UMLS:C0342700 {source="OMIM:193090", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2967"} @@ -159233,12 +159202,12 @@ synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100] synonym: "hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_dominant, OMIM:193100] synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [OMIM:193100] xref: DOID:0050948 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="ORDO:89937/attributed", source="ORDO:89937/ntbt", source="Orphanet:89937"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89937", source="Orphanet:89937/attributed", source="Orphanet:89937/ntbt"} xref: MESH:C562791 {source="MONDO:equivalentTo"} -xref: OMIM:193100 {source="ORDO:89937/e", source="MONDO:equivalentTo", source="Orphanet:89937", source="DOID:0050948"} +xref: OMIM:193100 {source="MONDO:equivalentTo", source="Orphanet:89937", source="DOID:0050948", source="Orphanet:89937/e"} xref: Orphanet:89937 {source="MONDO:equivalentTo", source="OMIM:193100"} xref: SCTID:237889002 {source="MONDO:equivalentTo"} -xref: UMLS:C0342642 {source="ORDO:89937/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:89937", source="OMIM:193100"} +xref: UMLS:C0342642 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:89937", source="OMIM:193100", source="Orphanet:89937/e"} xref: UMLS:C1704375 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:89937"} is_a: MONDO:0000044 {source="DC-OMIM:193100", source="MONDO:Redundant", source="OMIM:193100", source="Orphanet:89937"} ! hereditary hypophosphatemic rickets is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal dominant disease @@ -159288,9 +159257,9 @@ synonym: "VRCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193220] synonym: "VRCP autosomal dominant" RELATED [GARD:0005507] xref: DOID:0111569 {source="MONDO:equivalentTo"} xref: GARD:0005507 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086", source="ORDO:3086/attributed", source="ORDO:3086/ntbt"} -xref: MESH:C536352 {source="MONDO:equivalentTo", source="Orphanet:3086", source="ORDO:3086/e"} -xref: OMIM:193220 {source="MONDO:equivalentTo", source="Orphanet:3086", source="ORDO:3086/e"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086/attributed", source="Orphanet:3086/ntbt", source="Orphanet:3086"} +xref: MESH:C536352 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} +xref: OMIM:193220 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} xref: Orphanet:263347 {source="MONDO:superClassOf", source="OMIM:193220"} xref: Orphanet:3086 {source="MONDO:equivalentTo", source="OMIM:193220"} xref: SCTID:711162004 {source="MONDO:equivalentTo"} @@ -159314,11 +159283,11 @@ synonym: "SVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193230] synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical, OMIM:193230] xref: DOID:0111570 {source="MONDO:equivalentTo"} xref: GARD:0009706 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:91496", source="ORDO:91496/attributed", source="ORDO:91496/ntbt"} -xref: MESH:C536677 {source="ORDO:91496/e", source="Orphanet:91496", source="MONDO:equivalentTo"} -xref: OMIM:193230 {source="ORDO:91496/e", source="Orphanet:91496", source="MONDO:equivalentTo"} +xref: ICD10CM:H35.5 {source="Orphanet:91496/attributed", source="Orphanet:91496/ntbt", source="MONDO:relatedTo", source="Orphanet:91496"} +xref: MESH:C536677 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} +xref: OMIM:193230 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} xref: Orphanet:91496 {source="MONDO:equivalentTo", source="OMIM:193230"} -xref: UMLS:C1860405 {source="ORDO:91496/e", source="Orphanet:91496", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:193230"} +xref: UMLS:C1860405 {source="Orphanet:91496", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:193230", source="Orphanet:91496/e"} is_a: MONDO:0020248 {source="Orphanet:91496"} ! vitreoretinal degeneration relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6259 {source="mim2gene_medgen"} ! KCNJ13 property_value: confidence "3.666666666666667" xsd:double @@ -159343,7 +159312,7 @@ synonym: "tucker syndrome" EXACT [Orphanet:2997] synonym: "vocal cord paralysis and ptosis" RELATED [OMIM:193240] xref: GARD:0000427 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C536923 {source="MONDO:equivalentTo"} -xref: OMIM:193240 {source="MONDO:equivalentTo", source="Orphanet:2997", source="ORDO:2997/e"} +xref: OMIM:193240 {source="MONDO:equivalentTo", source="Orphanet:2997", source="Orphanet:2997/e"} xref: Orphanet:2997 {source="MONDO:equivalentTo", source="OMIM:193240"} xref: UMLS:C1860403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2997", source="OMIM:193240"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -159389,15 +159358,15 @@ synonym: "von Hippel-Lindau syndrome, modifier of" EXACT [OMIM:193300, OMIM:gene synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300] xref: DOID:14175 {source="MONDO:equivalentTo"} xref: GARD:0007855 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.8 {source="ORDO:892/inclusion", source="ORDO:892/ntbt", source="DOID:14175", source="Orphanet:892"} +xref: ICD10CM:Q85.8 {source="DOID:14175", source="Orphanet:892/ntbt", source="Orphanet:892/inclusion", source="Orphanet:892"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10047716 {source="ORDO:892/e", source="Orphanet:892"} -xref: MESH:D006623 {source="DOID:14175", source="MONDO:equivalentTo", source="ORDO:892/e", source="Orphanet:892"} +xref: MedDRA:10047716 {source="Orphanet:892/e", source="Orphanet:892"} +xref: MESH:D006623 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"} xref: NCIT:C3105 {source="DOID:14175", source="MONDO:equivalentTo"} -xref: OMIM:193300 {source="DOID:14175", source="MONDO:equivalentTo", source="ORDO:892/e", source="Orphanet:892"} +xref: OMIM:193300 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"} xref: Orphanet:892 {source="MONDO:equivalentTo", source="OMIM:193300"} xref: SCTID:46659004 {source="DOID:14175", source="MONDO:equivalentTo"} -xref: UMLS:C0019562 {source="NCBI:mim2gene_medline", source="DOID:14175", source="MONDO:equivalentTo", source="NCIT:C3105", source="ORDO:892/e", source="Orphanet:892", source="OMIM:193300"} +xref: UMLS:C0019562 {source="Orphanet:892/e", source="NCBI:mim2gene_medline", source="DOID:14175", source="MONDO:equivalentTo", source="NCIT:C3105", source="Orphanet:892", source="OMIM:193300"} xref: UMLS:C2674004 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:193300"} is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015079 {source="Orphanet:892"} ! multiple polyglandular tumor @@ -159430,14 +159399,14 @@ synonym: "VWD type 1" EXACT [DOID:0060573] synonym: "VWD, type 1" RELATED [OMIM:193400] synonym: "VWD1" EXACT ABBREVIATION [DOID:0060573, MONDO:Lexical, OMIM:193400] xref: DOID:0060573 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="DOID:0060573", source="Orphanet:166078", source="ORDO:166078/attributed", source="ORDO:166078/ntbt"} -xref: MESH:D056725 {source="ORDO:166078/e", source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166078/attributed", source="Orphanet:166078/ntbt", source="DOID:0060573", source="Orphanet:166078"} +xref: MESH:D056725 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"} xref: NCIT:C131685 {source="MONDO:equivalentTo"} -xref: OMIM:193400 {source="ORDO:166078/e", source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo"} +xref: OMIM:193400 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"} xref: Orphanet:166078 {source="OMIM:193400", source="MONDO:equivalentTo"} xref: Orphanet:903 {source="MONDO:subClassOf", source="OMIM:193400"} xref: SCTID:128106003 {source="MONDO:equivalentTo"} -xref: UMLS:C1264039 {source="ORDO:166078/e", source="OMIM:193400", source="DOID:0060573", source="Orphanet:166078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131685"} +xref: UMLS:C1264039 {source="OMIM:193400", source="DOID:0060573", source="Orphanet:166078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166078/e", source="NCIT:C131685"} is_a: MONDO:0019565 {source="DC-OMIM:193400", source="DOID:0060573", source="MESH:D056725", source="NCIT:C131685", source="Orphanet:166078"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="MESH:D056725", source="NCIT:C131685", source="indirect", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12726 {source="mim2gene_medgen"} ! VWF @@ -159468,12 +159437,12 @@ synonym: "Waardenburg's syndrome type 1" RELATED [GARD:0005519] synonym: "WS1" EXACT ABBREVIATION [DOID:0110948, MONDO:Lexical, OMIM:193500, Orphanet:894] xref: DOID:0110948 {source="MONDO:equivalentTo"} xref: GARD:0005519 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0110948", source="ORDO:894/attributed", source="ORDO:894/ntbt", source="Orphanet:894"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:894/attributed", source="Orphanet:894/ntbt", source="DOID:0110948", source="Orphanet:894"} xref: NCIT:C75008 {source="MONDO:equivalentTo"} -xref: OMIM:193500 {source="MONDO:equivalentTo", source="DOID:0110948", source="ORDO:894/e", source="Orphanet:894"} +xref: OMIM:193500 {source="Orphanet:894/e", source="MONDO:equivalentTo", source="DOID:0110948", source="Orphanet:894"} xref: Orphanet:3440 {source="MONDO:subClassOf", source="OMIM:193500"} xref: Orphanet:894 {source="OMIM:193500", source="MONDO:equivalentTo", source="DOID:0110948"} -xref: UMLS:C1847800 {source="OMIM:193500", source="NCIT:C75008", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110948", source="ORDO:894/e", source="Orphanet:894"} +xref: UMLS:C1847800 {source="OMIM:193500", source="NCIT:C75008", source="Orphanet:894/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110948", source="Orphanet:894"} is_a: MONDO:0018094 {source="DC-OMIM:193500", source="DOID:0110948", source="NCIT:C75008", source="OMIM:193500", source="Orphanet:894"} ! Waardenburg syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8617 {source="mim2gene_medgen"} ! PAX3 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:193500", source="Orphanet:894"} ! Autosomal dominant inheritance @@ -159545,13 +159514,13 @@ synonym: "Weyers acrodental dysostosis" EXACT [Orphanet:952] synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orphanet:952] xref: DOID:0111571 {source="MONDO:equivalentTo"} xref: GARD:0000497 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.4 {source="Orphanet:952", source="ORDO:952/attributed", source="ORDO:952/ntbt"} +xref: ICD10CM:Q75.4 {source="Orphanet:952/attributed", source="Orphanet:952/ntbt", source="Orphanet:952"} xref: ICD9:520.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="ORDO:952/e"} -xref: OMIM:193530 {source="Orphanet:952", source="MONDO:equivalentTo", source="ORDO:952/e"} +xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} +xref: OMIM:193530 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} xref: Orphanet:952 {source="MONDO:equivalentTo", source="OMIM:193530"} xref: SCTID:277807007 {source="MONDO:equivalentTo"} -xref: UMLS:C0457013 {source="Orphanet:952", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:952/e", source="OMIM:193530"} +xref: UMLS:C0457013 {source="Orphanet:952", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:952/e", source="OMIM:193530"} is_a: MONDO:0015161 {source="Orphanet:952", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:952"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:952"} ! acrofacial dysostosis @@ -159591,15 +159560,15 @@ synonym: "whistling-face syndrome" EXACT [NCIT:C98931] synonym: "windmill-vane-hand syndrome" EXACT [NCIT:C98931] xref: DOID:0111604 {source="MONDO:equivalentTo"} xref: GARD:0006466 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="DOID:0111604", source="ORDO:2053/attributed", source="ORDO:2053/ntbt", source="Orphanet:2053"} -xref: MESH:C535483 {source="DOID:0111604", source="MONDO:equivalentTo", source="ORDO:2053/e", source="Orphanet:2053"} +xref: ICD10CM:Q87.0 {source="DOID:0111604", source="Orphanet:2053/attributed", source="Orphanet:2053/ntbt", source="Orphanet:2053"} +xref: MESH:C535483 {source="DOID:0111604", source="Orphanet:2053/e", source="MONDO:equivalentTo", source="Orphanet:2053"} xref: NCIT:C98931 {source="DOID:0111604", source="MONDO:equivalentTo"} -xref: OMIM:193700 {source="MONDO:equivalentTo", source="ORDO:2053/e", source="Orphanet:2053"} -xref: OMIM:277720 {source="MONDO:superClassOf", source="ORDO:2053/btnt", source="Orphanet:2053"} +xref: OMIM:193700 {source="Orphanet:2053/e", source="MONDO:equivalentTo", source="Orphanet:2053"} +xref: OMIM:277720 {source="Orphanet:2053/btnt", source="MONDO:superClassOf", source="Orphanet:2053"} xref: OMIM:616266 {source="MONDO:superClassOf", source="Orphanet:2053"} xref: Orphanet:2053 {source="OMIM:193700", source="DOID:0111604", source="MONDO:equivalentTo"} xref: SCTID:52616002 {source="DOID:0111604", source="MONDO:equivalentTo"} -xref: UMLS:C0265224 {source="OMIM:193700", source="DOID:0111604", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2053/e", source="NCIT:C98931", source="Orphanet:2053"} +xref: UMLS:C0265224 {source="OMIM:193700", source="DOID:0111604", source="NCBI:mim2gene_medline", source="Orphanet:2053/e", source="MONDO:equivalentTo", source="NCIT:C98931", source="Orphanet:2053"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98931", source="indirect"} ! syndromic disease is_a: MONDO:0008779 {source="NCIT:C98931"} ! arthrogryposis is_a: MONDO:0015161 {source="Orphanet:2053", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -159662,15 +159631,15 @@ synonym: "Williams-Beuren syndrome (WBS)" EXACT [NCIT:C85232] synonym: "WMS" RELATED ABBREVIATION [GARD:0007891] xref: DOID:1928 {source="MONDO:equivalentTo"} xref: GARD:0007891 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:904/attributed", source="ORDO:904/ntbt", source="Orphanet:904"} +xref: ICD10CM:Q87.8 {source="Orphanet:904", source="Orphanet:904/attributed", source="Orphanet:904/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049644 {source="ORDO:904/e", source="Orphanet:904"} -xref: MESH:D018980 {source="DOID:1928", source="MONDO:equivalentTo", source="ORDO:904/e", source="Orphanet:904"} +xref: MedDRA:10049644 {source="Orphanet:904", source="Orphanet:904/e"} +xref: MESH:D018980 {source="DOID:1928", source="MONDO:equivalentTo", source="Orphanet:904", source="Orphanet:904/e"} xref: NCIT:C85232 {source="DOID:1928", source="MONDO:equivalentTo"} -xref: OMIM:194050 {source="DOID:1928", source="MONDO:equivalentTo", source="ORDO:904/e", source="Orphanet:904"} +xref: OMIM:194050 {source="DOID:1928", source="MONDO:equivalentTo", source="Orphanet:904", source="Orphanet:904/e"} xref: Orphanet:904 {source="MONDO:equivalentTo", source="OMIM:194050"} xref: SCTID:63247009 {source="DOID:1928", source="MONDO:equivalentTo"} -xref: UMLS:C0175702 {source="DOID:1928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194050", source="ORDO:904/e", source="Orphanet:904", source="NCIT:C85232"} +xref: UMLS:C0175702 {source="DOID:1928", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194050", source="Orphanet:904", source="NCIT:C85232", source="Orphanet:904/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:904", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0000761 {source="DOID:1928"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85232", source="indirect"} ! syndromic disease @@ -159778,17 +159747,17 @@ synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" RELAT xref: DOID:14515 {source="MONDO:equivalentTo"} xref: GARD:0001732 {source="MONDO:equivalentTo"} xref: GARD:0005528 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:893/attributed", source="ORDO:893/ntbt", source="Orphanet:893"} -xref: MESH:C538295 {source="ORDO:893/e", source="Orphanet:893"} -xref: MESH:D017624 {source="DOID:14515", source="MONDO:equivalentTo", source="ORDO:893/e", source="Orphanet:893"} +xref: ICD10CM:Q87.8 {source="Orphanet:893/attributed", source="Orphanet:893/ntbt", source="Orphanet:893"} +xref: MESH:C538295 {source="Orphanet:893/e", source="Orphanet:893"} +xref: MESH:D017624 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} xref: NCIT:C3718 {source="DOID:14515", source="MONDO:equivalentTo"} -xref: OMIM:194072 {source="DOID:14515", source="MONDO:equivalentTo", source="ORDO:893/e", source="Orphanet:893"} -xref: OMIM:612469 {source="ORDO:893/btnt", source="MONDO:superClassOf", source="Orphanet:893"} +xref: OMIM:194072 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} +xref: OMIM:612469 {source="Orphanet:893/btnt", source="MONDO:superClassOf", source="Orphanet:893"} xref: Orphanet:893 {source="MONDO:equivalentTo", source="OMIM:194072"} xref: SCTID:4135001 {source="DOID:14515"} xref: SCTID:715215007 {source="MONDO:equivalentTo"} -xref: UMLS:C0206115 {source="DOID:14515", source="NCIT:C3718", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194072", source="ORDO:893/e", source="Orphanet:893"} -xref: UMLS:C2931803 {source="MONDO:equivalentTo", source="ORDO:893/e", source="Orphanet:893"} +xref: UMLS:C0206115 {source="DOID:14515", source="NCIT:C3718", source="NCBI:mim2gene_medline", source="Orphanet:893/e", source="MONDO:equivalentTo", source="OMIM:194072", source="Orphanet:893"} +xref: UMLS:C2931803 {source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} is_a: MONDO:0000761 {source="DOID:14515"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder @@ -159826,15 +159795,15 @@ synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [OMIM:194080] synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220] xref: DOID:3764 {source="MONDO:equivalentTo"} xref: GARD:0005576 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:N04.1 {source="ORDO:220/attributed", source="ORDO:220/ntbt", source="Orphanet:220"} +xref: ICD10CM:N04.1 {source="Orphanet:220/attributed", source="Orphanet:220/ntbt", source="Orphanet:220"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10070179 {source="ORDO:220/e", source="Orphanet:220"} -xref: MESH:D030321 {source="DOID:3764", source="MONDO:equivalentTo", source="ORDO:220/e", source="Orphanet:220"} +xref: MedDRA:10070179 {source="Orphanet:220/e", source="Orphanet:220"} +xref: MESH:D030321 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"} xref: NCIT:C84668 {source="DOID:3764", source="MONDO:equivalentTo"} -xref: OMIM:194080 {source="DOID:3764", source="MONDO:equivalentTo", source="ORDO:220/e", source="Orphanet:220"} +xref: OMIM:194080 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"} xref: Orphanet:220 {source="OMIM:194080", source="MONDO:equivalentTo"} xref: SCTID:236385009 {source="DOID:3764", source="MONDO:equivalentTo"} -xref: UMLS:C0950121 {source="OMIM:194080", source="NCIT:C84668", source="DOID:3764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:220/e", source="Orphanet:220"} +xref: UMLS:C0950121 {source="OMIM:194080", source="NCIT:C84668", source="Orphanet:220/e", source="DOID:3764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:220"} xref: UMLS:C3151568 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:3764", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0005151 ! endocrine system disorder @@ -159891,19 +159860,19 @@ synonym: "Wolf-Hirschhorn syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM synonym: "Wolf-Hirschhorn syndrome, Isolated cases" EXACT [OMIM:194190, OMIM:genemap2] xref: DOID:0050460 {source="MONDO:equivalentTo"} xref: GARD:0007896 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.3 {source="Orphanet:280", source="ORDO:280/ntbt", source="ORDO:280/inclusion", source="MONDO:directSiblingOf", source="DOID:0050460"} -xref: MedDRA:10050361 {source="ORDO:280/e", source="Orphanet:280"} -xref: MESH:C536740 {source="ORDO:280/e", source="Orphanet:280"} -xref: MESH:D054877 {source="ORDO:280/e", source="MONDO:equivalentTo", source="Orphanet:280", source="DOID:0050460"} +xref: ICD10CM:Q93.3 {source="Orphanet:280/inclusion", source="Orphanet:280", source="MONDO:directSiblingOf", source="Orphanet:280/ntbt", source="DOID:0050460"} +xref: MedDRA:10050361 {source="Orphanet:280", source="Orphanet:280/e"} +xref: MESH:C536740 {source="Orphanet:280", source="Orphanet:280/e"} +xref: MESH:D054877 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"} xref: NCIT:C35528 {source="MONDO:equivalentTo", source="DOID:0050460"} -xref: OMIM:194190 {source="ORDO:280/e", source="MONDO:equivalentTo", source="Orphanet:280", source="DOID:0050460"} +xref: OMIM:194190 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"} xref: Orphanet:280 {source="OMIM:194190", source="MONDO:equivalentTo"} xref: Orphanet:98788 {source="OMIM:194190"} xref: SCTID:17122004 {source="DOID:0050460"} xref: SCTID:718226002 {source="MONDO:equivalentTo"} xref: UMLS:C0796117 {source="MONDO:equivalentTo", source="DOID:0050460"} xref: UMLS:C0796202 {source="MONDO:equivalentTo"} -xref: UMLS:C1956097 {source="OMIM:194190", source="ORDO:280/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280", source="NCIT:C35528", source="DOID:0050460"} +xref: UMLS:C1956097 {source="OMIM:194190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="NCIT:C35528", source="DOID:0050460"} xref: UMLS:CN207113 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:280", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0000761 {source="DOID:0050460"} ! syndrome caused by partial chromosomal deletion @@ -159982,17 +159951,17 @@ synonym: "wooly hair" EXACT [Orphanet:170] xref: DOID:0111572 {source="MONDO:equivalentTo"} xref: GARD:0005597 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002224 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q84.1 {source="ORDO:170/index", source="Orphanet:170", source="ORDO:170/ntbt"} -xref: MedDRA:10048017 {source="ORDO:170/e", source="Orphanet:170"} -xref: MESH:C536745 {source="ORDO:170/e", source="MONDO:equivalentTo", source="Orphanet:170"} -xref: OMIM:278150 {source="MONDO:superClassOf", source="Orphanet:170", source="ORDO:170/btnt"} -xref: OMIM:604379 {source="MONDO:superClassOf", source="Orphanet:170", source="ORDO:170/btnt"} -xref: OMIM:615896 {source="MONDO:superClassOf", source="Orphanet:170", source="ORDO:170/btnt"} -xref: OMIM:616760 {source="MONDO:superClassOf", source="Orphanet:170", source="ORDO:170/btnt"} +xref: ICD10CM:Q84.1 {source="Orphanet:170", source="Orphanet:170/index", source="Orphanet:170/ntbt"} +xref: MedDRA:10048017 {source="Orphanet:170", source="Orphanet:170/e"} +xref: MESH:C536745 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} +xref: OMIM:278150 {source="MONDO:superClassOf", source="Orphanet:170", source="Orphanet:170/btnt"} +xref: OMIM:604379 {source="MONDO:superClassOf", source="Orphanet:170", source="Orphanet:170/btnt"} +xref: OMIM:615896 {source="MONDO:superClassOf", source="Orphanet:170", source="Orphanet:170/btnt"} +xref: OMIM:616760 {source="MONDO:superClassOf", source="Orphanet:170", source="Orphanet:170/btnt"} xref: Orphanet:170 {source="MONDO:equivalentTo", source="OMIM:194300"} xref: SCTID:52564001 {source="MONDO:equivalentTo"} -xref: UMLS:C0343073 {source="ORDO:170/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:170"} -xref: UMLS:C0345427 {source="ORDO:170/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:170"} +xref: UMLS:C0343073 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:170", source="Orphanet:170/e"} +xref: UMLS:C0345427 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:170", source="Orphanet:170/e"} xref: UMLS:CN200245 {source="MONDO:equivalentTo"} is_a: MONDO:0019281 {source="Orphanet:170"} ! isolated genetic hair shaft abnormality relationship: disease_has_feature HP:0002224 ! Woolly hair @@ -160017,12 +159986,12 @@ synonym: "WT limb blood syndrome" RELATED [GARD:0000039] synonym: "WT limb-blood syndrome" EXACT [OMIM:194350] synonym: "WTsyndrome" RELATED [GARD:0000039] xref: GARD:0000039 {source="MONDO:equivalentTo"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:3466", source="ORDO:3466/attributed", source="ORDO:3466/ntbt"} -xref: MESH:C536751 {source="Orphanet:3466", source="ORDO:3466/e", source="MONDO:equivalentTo"} -xref: OMIM:194350 {source="Orphanet:3466", source="ORDO:3466/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:3466", source="Orphanet:3466/attributed", source="Orphanet:3466/ntbt"} +xref: MESH:C536751 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} +xref: OMIM:194350 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} xref: Orphanet:3466 {source="MONDO:equivalentTo", source="OMIM:194350"} xref: SCTID:719019000 {source="MONDO:equivalentTo"} -xref: UMLS:C1327917 {source="Orphanet:3466", source="ORDO:3466/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194350"} +xref: UMLS:C1327917 {source="Orphanet:3466", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:194350", source="Orphanet:3466/e"} is_a: MONDO:0001713 {source="Orphanet:3466", source="linkedlifedata"} ! inherited aplastic anemia property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome xsd:anyURI {source="GARD:0000039"} @@ -160099,14 +160068,14 @@ synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [DO synonym: "MTP deficiency" RELATED [OMIM:200100] xref: DOID:1386 {source="MONDO:equivalentTo"} xref: GARD:0000005 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E78.6 {source="DOID:1386", source="Orphanet:14", source="ORDO:14/ntbt", source="ORDO:14/inclusion"} -xref: MESH:D000012 {source="DOID:1386", source="Orphanet:14", source="ORDO:14/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E78.6 {source="Orphanet:14/ntbt", source="DOID:1386", source="Orphanet:14/inclusion", source="Orphanet:14"} +xref: MESH:D000012 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"} xref: NCIT:C84525 {source="DOID:1386", source="MONDO:equivalentTo"} -xref: OMIM:200100 {source="DOID:1386", source="Orphanet:14", source="ORDO:14/e", source="MONDO:equivalentTo"} +xref: OMIM:200100 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"} xref: Orphanet:14 {source="MONDO:equivalentTo", source="OMIM:200100"} xref: SCTID:190787008 {source="DOID:1386", source="MONDO:equivalentTo"} xref: SCTID:83123000 {source="DOID:1386"} -xref: UMLS:C0000744 {source="DOID:1386", source="NCIT:C84525", source="Orphanet:14", source="NCBI:mim2gene_medline", source="ORDO:14/e", source="MONDO:equivalentTo", source="OMIM:200100"} +xref: UMLS:C0000744 {source="DOID:1386", source="NCIT:C84525", source="Orphanet:14", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200100", source="Orphanet:14/e"} is_a: MONDO:0002525 {source="DOID:1386/inferred", source="MONDO:Redundant", source="NCIT:C84525", source="Orphanet:14/inferred"} ! inherited lipid metabolism disorder is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0003689 ! familial hemolytic anemia @@ -160132,12 +160101,12 @@ synonym: "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricul synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT EXCLUDE [DOID:0060550] xref: DOID:0060550 {source="MONDO:equivalentTo"} xref: GARD:0000003 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:920", source="ORDO:920/attributed", source="ORDO:920/ntbt"} -xref: MESH:C535557 {source="DOID:0060550", source="ORDO:920/e", source="Orphanet:920", source="MONDO:equivalentTo"} -xref: OMIM:200110 {source="DOID:0060550", source="ORDO:920/e", source="Orphanet:920", source="GARD:0000003", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:920", source="Orphanet:920/attributed", source="Orphanet:920/ntbt"} +xref: MESH:C535557 {source="DOID:0060550", source="Orphanet:920", source="MONDO:equivalentTo", source="Orphanet:920/e"} +xref: OMIM:200110 {source="DOID:0060550", source="Orphanet:920", source="GARD:0000003", source="MONDO:equivalentTo", source="Orphanet:920/e"} xref: Orphanet:920 {source="DOID:0060550", source="OMIM:200110", source="GARD:0000003", source="MONDO:equivalentTo"} xref: SCTID:718575002 {source="MONDO:equivalentTo"} -xref: UMLS:C1860224 {source="DOID:0060550", source="ORDO:920/e", source="Orphanet:920", source="OMIM:200110", source="GARD:0000003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1860224 {source="DOID:0060550", source="Orphanet:920", source="OMIM:200110", source="GARD:0000003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:920/e"} is_a: MONDO:0015160 {source="Orphanet:920", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015335 {source="Orphanet:920"} ! orofacial clefting syndrome is_a: MONDO:0020154 {source="Orphanet:920"} ! microblepharon-ablephara syndrome @@ -160160,9 +160129,9 @@ synonym: "intellectual disability, absence of eyebrows and eyelashes, progressiv synonym: "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED DEPRECATED [GARD:0000415] synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130] xref: GARD:0000415 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2985/attributed", source="ORDO:2985/ntbt", source="Orphanet:2985"} +xref: ICD10CM:Q87.8 {source="Orphanet:2985", source="Orphanet:2985/attributed", source="Orphanet:2985/ntbt"} xref: MESH:C563111 {source="MONDO:equivalentTo"} -xref: OMIM:200130 {source="ORDO:2985/e", source="MONDO:equivalentTo", source="Orphanet:2985"} +xref: OMIM:200130 {source="MONDO:equivalentTo", source="Orphanet:2985", source="Orphanet:2985/e"} xref: Orphanet:2985 {source="OMIM:200130", source="MONDO:equivalentTo"} xref: SCTID:733086003 {source="MONDO:equivalentTo"} xref: UMLS:C0796125 {source="OMIM:200130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2985"} @@ -160190,12 +160159,12 @@ synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, OMIM:200150, Orphanet: synonym: "neuroacanthocytosis" RELATED [OMIM:200150] xref: DOID:0050766 {source="MONDO:equivalentTo"} xref: GARD:0003956 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E78.6 {source="Orphanet:2388", source="DOID:0050766", source="ORDO:2388/attributed", source="ORDO:2388/ntbt"} +xref: ICD10CM:E78.6 {source="Orphanet:2388", source="Orphanet:2388/attributed", source="Orphanet:2388/ntbt", source="DOID:0050766"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:200150 {source="Orphanet:2388", source="ORDO:2388/e", source="DOID:0050766", source="MONDO:equivalentTo"} +xref: OMIM:200150 {source="Orphanet:2388", source="DOID:0050766", source="MONDO:equivalentTo", source="Orphanet:2388/e"} xref: Orphanet:2388 {source="OMIM:200150", source="DOID:0050766", source="MONDO:equivalentTo"} xref: SCTID:66881004 {source="MONDO:equivalentTo"} -xref: UMLS:C0393576 {source="OMIM:200150", source="Orphanet:2388", source="ORDO:2388/e", source="NCBI:mim2gene_medline", source="DOID:0050766", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0393576 {source="OMIM:200150", source="Orphanet:2388", source="NCBI:mim2gene_medline", source="DOID:0050766", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2388/e"} is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0016987 {source="DOID:0050766", source="Orphanet:2388"} ! neuroacanthocytosis is_a: MONDO:0019058 {source="Orphanet:2388"} ! neurometabolic disease @@ -160215,7 +160184,7 @@ synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED synonym: "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" RELATED [GARD:0000453] xref: GARD:0000453 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536000 {source="MONDO:equivalentTo"} -xref: OMIM:200170 {source="MONDO:equivalentTo", source="ORDO:90301/e", source="Orphanet:90301"} +xref: OMIM:200170 {source="MONDO:equivalentTo", source="Orphanet:90301", source="Orphanet:90301/e"} xref: Orphanet:90301 {source="MONDO:equivalentTo", source="OMIM:200170"} xref: UMLS:C1860215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200170"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus @@ -160262,7 +160231,7 @@ xref: UMLS:C1860213 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", xref: UMLS:C2939435 {source="MONDO:relatedTo"} is_a: MONDO:0003749 {source="DOID:9164", source="linkedlifedata", source="linkedlifedata/inferred"} ! esophageal disorder relationship: excluded_subClassOf MONDO:0003847 ! Mendelian disease -relationship: excluded_subClassOf MONDO:0019635 {source="ORDO:930/btnt"} ! idiopathic achalasia +relationship: excluded_subClassOf MONDO:0019635 {source="Orphanet:930/btnt"} ! idiopathic achalasia property_value: confidence "3.333333333333333" xsd:double property_value: IAO:0000589 "achalasia (disease)" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/4055 xsd:string @@ -160277,12 +160246,12 @@ synonym: "achalasia microcephaly" EXACT [DOID:0050796] synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450] xref: DOID:0050796 {source="MONDO:equivalentTo"} xref: GARD:0000456 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q39.5 {source="ORDO:929/attributed", source="ORDO:929/ntbt", source="Orphanet:929"} -xref: MESH:C536010 {source="DOID:0050796", source="MONDO:equivalentTo", source="ORDO:929/e", source="Orphanet:929"} -xref: OMIM:200450 {source="DOID:0050796", source="MONDO:equivalentTo", source="ORDO:929/e", source="Orphanet:929"} +xref: ICD10CM:Q39.5 {source="Orphanet:929/attributed", source="Orphanet:929/ntbt", source="Orphanet:929"} +xref: MESH:C536010 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"} +xref: OMIM:200450 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"} xref: Orphanet:929 {source="OMIM:200450", source="MONDO:equivalentTo"} xref: SCTID:718573009 {source="MONDO:equivalentTo"} -xref: UMLS:C1860212 {source="DOID:0050796", source="NCBI:mim2gene_medline", source="OMIM:200450", source="MONDO:equivalentTo", source="ORDO:929/e", source="Orphanet:929"} +xref: UMLS:C1860212 {source="Orphanet:929/e", source="DOID:0050796", source="NCBI:mim2gene_medline", source="OMIM:200450", source="MONDO:equivalentTo", source="Orphanet:929"} is_a: MONDO:0006025 {source="DOID:0050796", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015208 {source="Orphanet:929"} ! syndromic esophageal malformation relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:200450", source="Orphanet:929"} ! Autosomal recessive inheritance @@ -160301,12 +160270,12 @@ synonym: "ACHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200500] synonym: "horn-Kolb syndrome" EXACT [DOID:0050603] xref: DOID:0050603 {source="MONDO:equivalentTo"} xref: GARD:0000376 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.8 {source="Orphanet:931", source="ORDO:931/attributed", source="ORDO:931/ntbt"} -xref: MESH:C536014 {source="ORDO:931/e", source="Orphanet:931", source="MONDO:equivalentTo"} -xref: OMIM:200500 {source="ORDO:931/e", source="Orphanet:931", source="MONDO:equivalentTo", source="DOID:0050603"} +xref: ICD10CM:Q74.8 {source="Orphanet:931", source="Orphanet:931/attributed", source="Orphanet:931/ntbt"} +xref: MESH:C536014 {source="Orphanet:931", source="MONDO:equivalentTo", source="Orphanet:931/e"} +xref: OMIM:200500 {source="Orphanet:931", source="MONDO:equivalentTo", source="DOID:0050603", source="Orphanet:931/e"} xref: Orphanet:931 {source="MONDO:equivalentTo", source="OMIM:200500"} xref: SCTID:177504007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265559 {source="ORDO:931/e", source="Orphanet:931", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:200500"} +xref: UMLS:C0265559 {source="Orphanet:931", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:931/e", source="OMIM:200500"} is_a: MONDO:0005516 {source="DOID:0050603", source="Orphanet:931"} ! osteochondrodysplasia is_a: MONDO:0017421 {source="Orphanet:931"} ! non-syndromic terminal limb defects relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13243 {source="mim2gene_medgen"} ! LMBR1 @@ -160326,14 +160295,14 @@ synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical, OMIM:200600] synonym: "Houston-Harris achondrogenesis" RELATED [GARD:0000459] xref: DOID:0080054 {source="MONDO:equivalentTo"} xref: GARD:0000459 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93299", source="ORDO:93299/attributed", source="ORDO:93299/ntbt"} +xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93299/attributed", source="Orphanet:93299/ntbt", source="Orphanet:93299"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536015 {source="ORDO:93299/e", source="Orphanet:93299", source="MONDO:equivalentTo"} -xref: OMIM:200600 {source="ORDO:93299/e", source="DOID:0080054", source="Orphanet:93299", source="MONDO:equivalentTo"} +xref: MESH:C536015 {source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"} +xref: OMIM:200600 {source="DOID:0080054", source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"} xref: Orphanet:932 {source="MONDO:subClassOf", source="OMIM:200600"} xref: Orphanet:93299 {source="MONDO:equivalentTo", source="OMIM:200600"} xref: SCTID:42725006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265273 {source="ORDO:93299/e", source="NCBI:mim2gene_medline", source="Orphanet:93299", source="MONDO:notFoundInDiseaseSubset", source="OMIM:200600"} +xref: UMLS:C0265273 {source="NCBI:mim2gene_medline", source="Orphanet:93299", source="MONDO:notFoundInDiseaseSubset", source="OMIM:200600", source="Orphanet:93299/e"} is_a: MONDO:0019648 {source="DC-OMIM:200600", source="DOID:0080054", source="OMIM:200600", source="Orphanet:93299", source="linkedlifedata"} ! achondrogenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12305 {source="mim2gene_medgen"} ! TRIP11 property_value: confidence "1.666666666666666" xsd:double @@ -160356,13 +160325,13 @@ synonym: "chondrogenesis imperfecta" RELATED [OMIM:200610] synonym: "hypochondrogenesis" RELATED [OMIM:200610] xref: DOID:0080056 {source="MONDO:equivalentTo"} xref: GARD:0008713 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93296", source="ORDO:93296/attributed", source="ORDO:93296/ntbt"} -xref: MESH:C536017 {source="Orphanet:93296", source="MONDO:equivalentTo", source="ORDO:93296/e"} -xref: OMIM:200610 {source="Orphanet:93296", source="DOID:0080056", source="MONDO:equivalentTo", source="ORDO:93296/e"} +xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93296", source="Orphanet:93296/attributed", source="Orphanet:93296/ntbt"} +xref: MESH:C536017 {source="Orphanet:93296", source="MONDO:equivalentTo", source="Orphanet:93296/e"} +xref: OMIM:200610 {source="Orphanet:93296", source="DOID:0080056", source="MONDO:equivalentTo", source="Orphanet:93296/e"} xref: Orphanet:932 {source="MONDO:subClassOf", source="OMIM:200610"} xref: Orphanet:93296 {source="MONDO:equivalentTo", source="OMIM:200610"} xref: Orphanet:93297 {source="MONDO:superClassOf", source="OMIM:200610", source="MONDO:directSiblingOf"} -xref: UMLS:C0220685 {source="Orphanet:93296", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:200610", source="ORDO:93296/e"} +xref: UMLS:C0220685 {source="Orphanet:93296", source="NCBI:mim2gene_medline", source="Orphanet:93296/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:200610"} xref: UMLS:C0542428 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:200610"} is_a: MONDO:0019648 {source="DC-OMIM:200610", source="DOID:0080056", source="OMIM:200610", source="Orphanet:93296"} ! achondrogenesis is_a: MONDO:0022800 {source="Orphanet:93296"} ! type 2 collagenopathy @@ -160395,13 +160364,13 @@ synonym: "Langer-Saldino achondrogenesis" EXACT [NCIT:C3816] synonym: "type II achondrogenesis" EXACT [NCIT:C3816] xref: DOID:0080052 {source="MONDO:equivalentTo"} xref: GARD:0001300 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:2098/attributed", source="ORDO:2098/ntbt", source="Orphanet:2098"} +xref: ICD10CM:Q78.8 {source="Orphanet:2098/attributed", source="Orphanet:2098/ntbt", source="Orphanet:2098"} xref: NCIT:C3816 {source="MONDO:equivalentTo"} -xref: OMIM:200700 {source="DOID:0080052", source="MONDO:equivalentTo", source="Orphanet:2098", source="ORDO:2098/e"} -xref: OMIM:609441 {source="ORDO:2098/w", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:2098"} +xref: OMIM:200700 {source="DOID:0080052", source="Orphanet:2098/e", source="MONDO:equivalentTo", source="Orphanet:2098"} +xref: OMIM:609441 {source="Orphanet:2098/w", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:2098"} xref: Orphanet:2098 {source="MONDO:equivalentTo", source="OMIM:200700"} xref: UMLS:C0220685 {source="NCIT:C3816", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0265260 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200700", source="Orphanet:2098", source="ORDO:2098/e"} +xref: UMLS:C0265260 {source="Orphanet:2098/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200700", source="Orphanet:2098"} is_a: MONDO:0019648 {source="NCIT:C3816"} ! achondrogenesis is_a: MONDO:0019696 {source="DOID:0080052", source="Orphanet:2098"} ! acromesomelic dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4220 {source="mim2gene_medgen"} ! GDF5 @@ -160431,13 +160400,13 @@ synonym: "SLSD with SCID" RELATED [GARD:0002988] synonym: "Slsd with SCID" RELATED [OMIM:200900] xref: GARD:0000463 {source="MONDO:equivalentTo"} xref: GARD:0002988 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.2 {source="ORDO:935/specific", source="ORDO:935/e", source="Orphanet:935"} -xref: MESH:C536020 {source="ORDO:935/e", source="Orphanet:935"} +xref: ICD10CM:D82.2 {source="Orphanet:935", source="Orphanet:935/specific", source="Orphanet:935/e"} +xref: MESH:C536020 {source="Orphanet:935", source="Orphanet:935/e"} xref: MESH:C565984 {source="MONDO:equivalentTo"} -xref: OMIM:200900 {source="GARD:0000463", source="ORDO:935/e", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988"} +xref: OMIM:200900 {source="GARD:0000463", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988", source="Orphanet:935/e"} xref: Orphanet:935 {source="MONDO:equivalentTo", source="GARD:0002988", source="OMIM:200900"} xref: UMLS:C1860168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988", source="OMIM:200900"} -xref: UMLS:C2931087 {source="GARD:0000463", source="ORDO:935/e", source="Orphanet:935", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931087 {source="GARD:0000463", source="Orphanet:935", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:935/e"} is_a: MONDO:0017855 {source="Orphanet:935"} ! T-B- severe combined immunodeficiency property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency xsd:anyURI {source="GARD:0002988"} @@ -160448,13 +160417,13 @@ name: lysosomal acid phosphatase deficiency subset: ordo_disease {source="Orphanet:35121"} synonym: "acid phosphatase deficiency" EXACT [OMIM:200950] synonym: "lysosomal acid phosphatase deficiency" EXACT [Orphanet:35121] -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="ORDO:35121/ntbt", source="Orphanet:35121", source="ORDO:35121/inclusion"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:35121/inclusion", source="Orphanet:35121/ntbt", source="Orphanet:35121"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562645 {source="MONDO:equivalentTo"} -xref: OMIM:200950 {source="MONDO:equivalentTo", source="ORDO:35121/e", source="Orphanet:35121"} +xref: OMIM:200950 {source="Orphanet:35121/e", source="MONDO:equivalentTo", source="Orphanet:35121"} xref: Orphanet:35121 {source="MONDO:equivalentTo", source="OMIM:200950"} xref: SCTID:57863006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268410 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:35121/e", source="OMIM:200950", source="Orphanet:35121"} +xref: UMLS:C0268410 {source="Orphanet:35121/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200950", source="Orphanet:35121"} is_a: MONDO:0002561 {source="Orphanet:35121", source="linkedlifedata"} ! lysosomal storage disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/123 {source="mim2gene_medgen"} ! ACP2 property_value: confidence "4.277777777777778" xsd:double @@ -160473,12 +160442,12 @@ synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561] synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469] xref: GARD:0000469 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.2 {source="Orphanet:2561", source="ORDO:2561/attributed", source="ORDO:2561/ntbt"} -xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="ORDO:2561/e"} -xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="ORDO:2561/e"} +xref: ICD10CM:K00.2 {source="Orphanet:2561", source="Orphanet:2561/attributed", source="Orphanet:2561/ntbt"} +xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} +xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} xref: Orphanet:2561 {source="MONDO:equivalentTo", source="OMIM:200970"} xref: SCTID:722280000 {source="MONDO:equivalentTo"} -xref: UMLS:C1860167 {source="Orphanet:2561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200970", source="ORDO:2561/e"} +xref: UMLS:C1860167 {source="Orphanet:2561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200970", source="Orphanet:2561/e"} is_a: MONDO:0015161 {source="Orphanet:2561", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="Orphanet:2561", source="linkedlifedata"} ! ectodermal dysplasia syndrome is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2561"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -160498,12 +160467,12 @@ synonym: "split hand split foot mandibular hypoplasia" RELATED [GARD:0000480] synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet:958] synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980] xref: GARD:0000480 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:958/attributed", source="ORDO:958/ntbt", source="Orphanet:958"} -xref: MESH:C535665 {source="ORDO:958/e", source="MONDO:equivalentTo", source="Orphanet:958"} -xref: OMIM:200980 {source="ORDO:958/e", source="MONDO:equivalentTo", source="Orphanet:958"} +xref: ICD10CM:Q87.8 {source="Orphanet:958", source="Orphanet:958/attributed", source="Orphanet:958/ntbt"} +xref: MESH:C535665 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} +xref: OMIM:200980 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} xref: Orphanet:958 {source="MONDO:equivalentTo", source="OMIM:200980"} xref: SCTID:720414005 {source="MONDO:equivalentTo"} -xref: UMLS:C1860166 {source="ORDO:958/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200980", source="Orphanet:958"} +xref: UMLS:C1860166 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:200980", source="Orphanet:958", source="Orphanet:958/e"} is_a: MONDO:0015161 {source="Orphanet:958", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:958", source="Orphanet:958/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:958"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -160527,13 +160496,13 @@ synonym: "Schinzel acrocallosal syndrome" EXACT [DOID:9250, OMIM:200990] synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE] xref: DOID:9250 {source="MONDO:equivalentTo"} xref: GARD:0005721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.0 {source="Orphanet:36", source="ORDO:36/attributed", source="ORDO:36/ntbt"} +xref: ICD10CM:Q04.0 {source="Orphanet:36/attributed", source="Orphanet:36/ntbt", source="Orphanet:36"} xref: MESH:D055673 {source="DOID:9250", source="MONDO:equivalentTo"} xref: NCIT:C84531 {source="DOID:9250", source="MONDO:equivalentTo"} -xref: OMIM:200990 {source="Orphanet:36", source="ORDO:36/e", source="DOID:9250", source="MONDO:equivalentTo"} +xref: OMIM:200990 {source="Orphanet:36", source="DOID:9250", source="MONDO:equivalentTo", source="Orphanet:36/e"} xref: Orphanet:36 {source="OMIM:200990", source="MONDO:equivalentTo"} xref: SCTID:715951007 {source="MONDO:equivalentTo"} -xref: UMLS:C0796147 {source="OMIM:200990", source="Orphanet:36", source="NCBI:mim2gene_medline", source="ORDO:36/e", source="DOID:9250", source="MONDO:equivalentTo", source="NCIT:C84531"} +xref: UMLS:C0796147 {source="OMIM:200990", source="Orphanet:36", source="NCBI:mim2gene_medline", source="DOID:9250", source="MONDO:equivalentTo", source="Orphanet:36/e", source="NCIT:C84531"} xref: UMLS:C2931760 {source="OMIM:200990", source="Orphanet:36", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3277723 {source="OMIM:200990", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:36", source="indirect"} ! syndromic intellectual disability @@ -160558,9 +160527,9 @@ synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:22105 synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054] xref: GARD:0000486 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"} xref: GARD:0002096 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:221054", source="ORDO:221054/attributed", source="ORDO:221054/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:221054", source="Orphanet:221054/attributed", source="Orphanet:221054/ntbt"} xref: MESH:C573722 {source="MONDO:equivalentTo"} -xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="ORDO:221054/e"} +xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="Orphanet:221054/e"} xref: Orphanet:221054 {source="MONDO:equivalentTo", source="OMIM:200995"} xref: SCTID:720417003 {source="MONDO:equivalentTo"} xref: UMLS:C1860157 {source="Orphanet:221054", source="MONDO:relatedTo", source="NCBI:mim2gene_medline"} @@ -160608,9 +160577,9 @@ synonym: "acrocephalopolysyndactyly type IV" RELATED [OMIM:201020] synonym: "Goodman camptodactyly" RELATED [GARD:0002549] synonym: "Goodman syndrome" EXACT [OMIM:201020] xref: GARD:0002549 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:65798", source="ORDO:65798/attributed", source="ORDO:65798/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:65798", source="Orphanet:65798/attributed", source="Orphanet:65798/ntbt"} xref: MESH:C537287 {source="MONDO:equivalentTo"} -xref: OMIM:201020 {source="ORDO:65798/e", source="Orphanet:65798", source="MONDO:equivalentTo"} +xref: OMIM:201020 {source="Orphanet:65798", source="MONDO:equivalentTo", source="Orphanet:65798/e"} xref: Orphanet:65798 {source="OMIM:201020", source="MONDO:equivalentTo"} xref: SCTID:720600004 {source="MONDO:equivalentTo"} xref: UMLS:C0265303 {source="Orphanet:65798", source="OMIM:201020", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -160631,9 +160600,9 @@ synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050] synonym: "Kaplan Plauchu Fitch syndrome" RELATED [GARD:0003075] synonym: "Kaplan-Plauchu-Fitch syndrome" EXACT [Orphanet:949] xref: GARD:0003075 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:949/attributed", source="ORDO:949/ntbt", source="Orphanet:949"} +xref: ICD10CM:Q87.0 {source="Orphanet:949/attributed", source="Orphanet:949/ntbt", source="Orphanet:949"} xref: MESH:C536892 {source="MONDO:equivalentTo"} -xref: OMIM:201050 {source="MONDO:equivalentTo", source="ORDO:949/e", source="Orphanet:949"} +xref: OMIM:201050 {source="Orphanet:949/e", source="MONDO:equivalentTo", source="Orphanet:949"} xref: Orphanet:949 {source="MONDO:equivalentTo", source="OMIM:201050"} xref: SCTID:720418008 {source="MONDO:equivalentTo"} xref: UMLS:C1860145 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:949", source="OMIM:201050"} @@ -160662,11 +160631,11 @@ synonym: "inherited zinc deficiency" EXACT [Orphanet:37] xref: DOID:0050605 {source="MONDO:equivalentTo"} xref: GARD:0005723 {source="MONDO:equivalentTo"} xref: GARD:0006343 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.2 {source="ORDO:37/ntbt", source="Orphanet:37", source="ORDO:37/inclusion"} +xref: ICD10CM:E83.2 {source="Orphanet:37/inclusion", source="Orphanet:37", source="Orphanet:37/ntbt"} xref: ICD9:686.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538178 {source="MONDO:equivalentTo"} xref: NCIT:C128802 {source="MONDO:equivalentTo"} -xref: OMIM:201100 {source="ORDO:37/e", source="MONDO:equivalentTo", source="Orphanet:37", source="DOID:0050605"} +xref: OMIM:201100 {source="MONDO:equivalentTo", source="Orphanet:37", source="DOID:0050605", source="Orphanet:37/e"} xref: Orphanet:37 {source="OMIM:201100", source="MONDO:equivalentTo"} xref: SCTID:37702000 {source="MONDO:equivalentTo"} xref: UMLS:C0221036 {source="OMIM:201100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:37", source="NCIT:C128802"} @@ -160695,12 +160664,12 @@ synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [DOID:0060383] synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [OMIM:201170] xref: DOID:0060383 {source="MONDO:equivalentTo"} xref: GARD:0000496 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.4 {source="ORDO:1788/attributed", source="ORDO:1788/ntbt", source="Orphanet:1788"} -xref: MESH:C538183 {source="MONDO:equivalentTo", source="ORDO:1788/e", source="Orphanet:1788", source="DOID:0060383"} -xref: OMIM:201170 {source="MONDO:equivalentTo", source="ORDO:1788/e", source="Orphanet:1788", source="DOID:0060383"} +xref: ICD10CM:Q75.4 {source="Orphanet:1788", source="Orphanet:1788/attributed", source="Orphanet:1788/ntbt"} +xref: MESH:C538183 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"} +xref: OMIM:201170 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"} xref: Orphanet:1788 {source="MONDO:equivalentTo", source="DOID:0060383", source="OMIM:201170"} xref: SCTID:720430002 {source="MONDO:equivalentTo"} -xref: UMLS:C1860119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1788/e", source="Orphanet:1788", source="DOID:0060383", source="OMIM:201170"} +xref: UMLS:C1860119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="OMIM:201170", source="Orphanet:1788/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1788", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1788"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:1788"} ! branchial arch or oral-acral syndrome @@ -160726,13 +160695,13 @@ synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palat synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784] xref: DOID:0060226 {source="MONDO:equivalentTo"} xref: GARD:0000484 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.1 {source="Orphanet:1784", source="ORDO:1784/attributed", source="ORDO:1784/ntbt"} +xref: ICD10CM:Q75.1 {source="Orphanet:1784/attributed", source="Orphanet:1784/ntbt", source="Orphanet:1784"} xref: MESH:C538186 {source="DOID:0060226", source="MONDO:superClassOf"} -xref: OMIM:201180 {source="ORDO:1784/e", source="Orphanet:1784", source="DOID:0060226", source="MONDO:superClassOf"} +xref: OMIM:201180 {source="Orphanet:1784", source="DOID:0060226", source="MONDO:superClassOf", source="Orphanet:1784/e"} xref: OMIM:239710 {source="DOID:0060226", source="MONDO:superClassOf"} xref: Orphanet:1784 {source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"} xref: SCTID:720408003 {source="MONDO:equivalentTo"} -xref: UMLS:C1860118 {source="ORDO:1784/e", source="NCBI:mim2gene_medline", source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"} +xref: UMLS:C1860118 {source="NCBI:mim2gene_medline", source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo", source="Orphanet:1784/e", source="OMIM:201180"} is_a: MONDO:0018237 {source="Orphanet:1784"} ! acrofacial dysostosis property_value: confidence "0.3440000000000003" xsd:double @@ -160747,14 +160716,14 @@ synonym: "familial acrogeria" RELATED [GARD:0006543] synonym: "Gottron syndrome" EXACT [Orphanet:2500] synonym: "Metageria" RELATED [OMIM:201200] xref: GARD:0006543 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L90.8 {source="Orphanet:2500", source="ORDO:2500/attributed", source="ORDO:2500/ntbt"} +xref: ICD10CM:L90.8 {source="Orphanet:2500/attributed", source="Orphanet:2500/ntbt", source="Orphanet:2500"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538187 {source="Orphanet:2500", source="ORDO:2500/e", source="MONDO:equivalentTo"} -xref: OMIM:201200 {source="Orphanet:2500", source="ORDO:2500/e", source="MONDO:equivalentTo"} +xref: MESH:C538187 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} +xref: OMIM:201200 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} xref: Orphanet:2500 {source="MONDO:equivalentTo", source="OMIM:201200"} xref: SCTID:238872007 {source="MONDO:equivalentTo"} -xref: UMLS:C0238590 {source="Orphanet:2500", source="ORDO:2500/e", source="MONDO:equivalentTo"} -xref: UMLS:C0406584 {source="Orphanet:2500", source="NCBI:mim2gene_medline", source="ORDO:2500/e", source="MONDO:equivalentTo", source="OMIM:201200"} +xref: UMLS:C0238590 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} +xref: UMLS:C0406584 {source="Orphanet:2500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:201200", source="Orphanet:2500/e"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! Mendelian disease is_a: MONDO:0005093 {source="https://orcid.org/0000-0002-2825-0621"} ! skin disorder is_a: MONDO:0019303 {source="Orphanet:2500"} ! premature aging syndrome @@ -160772,8 +160741,8 @@ synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [MONDO:Lexical, O synonym: "AMDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201250] xref: DOID:0080051 {source="MONDO:equivalentTo"} xref: GARD:0000506 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:968/attributed", source="ORDO:968/ntbt", source="Orphanet:968"} -xref: OMIM:201250 {source="ORDO:968/e", source="MONDO:equivalentTo", source="Orphanet:968", source="DOID:0080051"} +xref: ICD10CM:Q78.8 {source="Orphanet:968", source="Orphanet:968/attributed", source="Orphanet:968/ntbt"} +xref: OMIM:201250 {source="MONDO:equivalentTo", source="Orphanet:968", source="Orphanet:968/e", source="DOID:0080051"} xref: Orphanet:968 {source="OMIM:201250", source="MONDO:equivalentTo"} xref: UMLS:C2930970 {source="OMIM:201250", source="NCBI:mim2gene_medline", source="Orphanet:968", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019696 {source="DC-OMIM:201250", source="DOID:0080051", source="OMIM:201250", source="Orphanet:968"} ! acromesomelic dysplasia @@ -160790,10 +160759,10 @@ synonym: "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrom synonym: "Morvan's fibrillary chorea" EXACT [Orphanet:83467] xref: EFO:1001897 {source="MONDO:equivalentTo"} xref: GARD:0009766 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.8 {source="Orphanet:83467", source="ORDO:83467/ntbt"} +xref: ICD10CM:G60.8 {source="Orphanet:83467", source="Orphanet:83467/ntbt"} xref: Orphanet:83467 {source="MONDO:equivalentTo"} xref: SCTID:763803004 {source="MONDO:equivalentTo"} -xref: UMLS:C0751540 {source="ORDO:83467/e", source="MONDO:equivalentTo", source="Orphanet:83467"} +xref: UMLS:C0751540 {source="MONDO:equivalentTo", source="Orphanet:83467", source="Orphanet:83467/e"} xref: UMLS:C3854373 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83467"} is_a: MONDO:0016375 {source="Orphanet:83467"} ! acquired peripheral movement disorder is_a: MONDO:0019119 {source="EFO:1001897", source="Orphanet:83467"} ! muscular channelopathy @@ -160814,7 +160783,7 @@ xref: OMIM:201310 {source="MONDO:equivalentTo"} xref: Orphanet:971 {source="MONDO:subClassOf", source="OMIM:201310"} xref: UMLS:C0796290 {source="MONDO:equivalentTo", source="OMIM:201310"} xref: UMLS:C1860089 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007059 {source="MONDO:Redundant", source="ORDO:971/btnt"} ! acrorenal syndrome +is_a: MONDO:0007059 {source="MONDO:Redundant", source="Orphanet:971/btnt"} ! acrorenal syndrome intersection_of: MONDO:0007059 ! acrorenal syndrome intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance property_value: confidence "4.775" xsd:double @@ -160835,10 +160804,10 @@ xref: DOID:0080150 {source="MONDO:equivalentTo"} xref: EFO:1001979 {source="MONDO:equivalentTo"} xref: GARD:0005727 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0011748 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E23.6 {source="Orphanet:199296", source="ORDO:199296/attributed", source="ORDO:199296/ntbt"} +xref: ICD10CM:E23.6 {source="Orphanet:199296", source="Orphanet:199296/attributed", source="Orphanet:199296/ntbt"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535668 {source="MONDO:equivalentTo"} -xref: OMIM:201400 {source="Orphanet:199296", source="MONDO:equivalentTo", source="DOID:0080150", source="ORDO:199296/e"} +xref: OMIM:201400 {source="Orphanet:199296", source="MONDO:equivalentTo", source="Orphanet:199296/e", source="DOID:0080150"} xref: Orphanet:199296 {source="MONDO:equivalentTo", source="OMIM:201400"} xref: SCTID:237692001 {source="MONDO:equivalentTo"} xref: UMLS:C0271583 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:201400"} @@ -160876,15 +160845,15 @@ synonym: "medium-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84538] synonym: "medium-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84538] xref: DOID:0080153 {source="MONDO:equivalentTo"} xref: GARD:0000540 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.3 {source="Orphanet:42", source="ORDO:42/attributed", source="ORDO:42/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:42", source="Orphanet:42/attributed", source="Orphanet:42/ntbt"} xref: ICD10CM:E71.311 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536038 {source="Orphanet:42", source="MONDO:equivalentTo", source="ORDO:42/e"} +xref: MESH:C536038 {source="Orphanet:42", source="MONDO:equivalentTo", source="Orphanet:42/e"} xref: NCIT:C84538 {source="MONDO:equivalentTo"} -xref: OMIM:201450 {source="Orphanet:42", source="DOID:0080153", source="MONDO:equivalentTo", source="ORDO:42/e"} +xref: OMIM:201450 {source="Orphanet:42", source="DOID:0080153", source="MONDO:equivalentTo", source="Orphanet:42/e"} xref: Orphanet:42 {source="OMIM:201450", source="MONDO:equivalentTo"} xref: SCTID:128596003 {source="MONDO:equivalentTo"} -xref: UMLS:C0220710 {source="Orphanet:42", source="OMIM:201450", source="NCBI:mim2gene_medline", source="NCIT:C84538", source="MONDO:equivalentTo", source="ORDO:42/e"} +xref: UMLS:C0220710 {source="Orphanet:42", source="OMIM:201450", source="NCBI:mim2gene_medline", source="NCIT:C84538", source="MONDO:equivalentTo", source="Orphanet:42/e"} is_a: MONDO:0017714 {source="Orphanet:42", source="linkedlifedata"} ! acyl-CoA dehydrogenase deficiency intersection_of: MONDO:0003847 ! Mendelian disease intersection_of: disease_has_basis_in_disruption_of GO:0070991 ! medium-chain-acyl-CoA dehydrogenase activity @@ -160917,11 +160886,11 @@ synonym: "short-chain acyl-coenzyme A dehydrogenase deficiency" RELATED [GARD:00 synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539] xref: DOID:0080154 {source="MONDO:equivalentTo"} xref: GARD:0004822 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="ORDO:26792/attributed", source="ORDO:26792/ntbt", source="Orphanet:26792"} +xref: ICD10CM:E71.3 {source="Orphanet:26792", source="Orphanet:26792/attributed", source="Orphanet:26792/ntbt"} xref: ICD10CM:E71.312 {source="MONDO:equivalentTo"} -xref: MESH:C537596 {source="ORDO:26792/e", source="MONDO:equivalentTo", source="Orphanet:26792"} +xref: MESH:C537596 {source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"} xref: NCIT:C84539 {source="MONDO:equivalentTo"} -xref: OMIM:201470 {source="DOID:0080154", source="ORDO:26792/e", source="MONDO:equivalentTo", source="Orphanet:26792"} +xref: OMIM:201470 {source="DOID:0080154", source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"} xref: Orphanet:26792 {source="OMIM:201470", source="MONDO:equivalentTo"} xref: UMLS:C0342783 {source="OMIM:201470", source="NCIT:C84539", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016117 {source="Orphanet:26792"} ! muscular lipidosis @@ -160948,10 +160917,10 @@ synonym: "VLCAD deficiency" EXACT [OMIM:201475, Orphanet:26793] synonym: "VLCADD" EXACT ABBREVIATION [Orphanet:26793] xref: DOID:0080155 {source="MONDO:equivalentTo"} xref: GARD:0005508 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E71.3 {source="ORDO:26793/attributed", source="ORDO:26793/ntbt", source="Orphanet:26793"} +xref: ICD10CM:E71.3 {source="Orphanet:26793", source="Orphanet:26793/attributed", source="Orphanet:26793/ntbt"} xref: ICD10CM:E71.310 {source="MONDO:equivalentTo"} xref: NCIT:C98647 {source="MONDO:equivalentTo"} -xref: OMIM:201475 {source="DOID:0080155", source="MONDO:equivalentTo", source="ORDO:26793/e", source="Orphanet:26793"} +xref: OMIM:201475 {source="DOID:0080155", source="MONDO:equivalentTo", source="Orphanet:26793", source="Orphanet:26793/e"} xref: Orphanet:26793 {source="MONDO:equivalentTo", source="OMIM:201475"} xref: SCTID:237997005 {source="MONDO:equivalentTo"} xref: UMLS:C0342784 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="OMIM:201475"} @@ -160970,8 +160939,8 @@ name: adducted thumbs-arthrogryposis syndrome, Christian type def: "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." [Orphanet:2952] subset: ordo_malformation_syndrome {source="Orphanet:2952"} synonym: "adducted thumbs syndrome" RELATED [OMIM:201550] -xref: ICD10CM:Q74.8 {source="ORDO:2952/attributed", source="ORDO:2952/ntbt", source="Orphanet:2952"} -xref: OMIM:201550 {source="ORDO:2952/e", source="MONDO:equivalentTo", source="Orphanet:2952"} +xref: ICD10CM:Q74.8 {source="Orphanet:2952", source="Orphanet:2952/attributed", source="Orphanet:2952/ntbt"} +xref: OMIM:201550 {source="MONDO:equivalentTo", source="Orphanet:2952", source="Orphanet:2952/e"} xref: Orphanet:2952 {source="OMIM:201550", source="MONDO:equivalentTo"} xref: UMLS:C0431886 {source="NCBI:mim2gene_medline", source="OMIM:201550", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015168 {source="Orphanet:2952"} ! arthrogryposis multiplex congenita @@ -160991,13 +160960,13 @@ synonym: "lipoid adrenal hyperplasia" EXACT [OMIM:201710, OMIM:genemap2] synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:201710] synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [OMIM:201710] xref: GARD:0001465 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E25.0 {source="Orphanet:90790", source="ORDO:90790/attributed", source="ORDO:90790/ntbt"} -xref: MESH:C537027 {source="ORDO:90790/e", source="Orphanet:90790"} -xref: OMIM:201710 {source="ORDO:90790/e", source="Orphanet:90790", source="MONDO:equivalentTo"} +xref: ICD10CM:E25.0 {source="Orphanet:90790", source="Orphanet:90790/attributed", source="Orphanet:90790/ntbt"} +xref: MESH:C537027 {source="Orphanet:90790", source="Orphanet:90790/e"} +xref: OMIM:201710 {source="Orphanet:90790", source="MONDO:equivalentTo", source="Orphanet:90790/e"} xref: Orphanet:418 {source="MONDO:subClassOf", source="OMIM:201710"} xref: Orphanet:90790 {source="MONDO:equivalentTo", source="OMIM:201710"} xref: SCTID:44231009 {source="MONDO:equivalentTo"} -xref: UMLS:C0342474 {source="ORDO:90790/e", source="Orphanet:90790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:201710"} +xref: UMLS:C0342474 {source="Orphanet:90790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90790/e", source="OMIM:201710"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="Orphanet:90790", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital adrenal hyperplasia @@ -161043,10 +161012,10 @@ synonym: "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" EXACT [Orph synonym: "HSD3B deficiency" RELATED [GARD:0009152] synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] xref: GARD:0009152 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E25.0 {source="Orphanet:90791", source="ORDO:90791/attributed", source="ORDO:90791/ntbt"} +xref: ICD10CM:E25.0 {source="Orphanet:90791/attributed", source="Orphanet:90791/ntbt", source="Orphanet:90791"} xref: MESH:C538236 {source="MONDO:equivalentTo"} xref: NCIT:C131088 {source="MONDO:equivalentTo"} -xref: OMIM:201810 {source="ORDO:90791/e", source="Orphanet:90791", source="MONDO:equivalentTo"} +xref: OMIM:201810 {source="Orphanet:90791", source="MONDO:equivalentTo", source="Orphanet:90791/e"} xref: Orphanet:418 {source="MONDO:subClassOf", source="OMIM:201810"} xref: Orphanet:90791 {source="MONDO:equivalentTo", source="OMIM:201810"} xref: SCTID:54470008 {source="MONDO:equivalentTo"} @@ -161085,10 +161054,10 @@ synonym: "CYP21 deficiency" RELATED [GARD:0005757, OMIM:201910] synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [OMIM:201910] xref: GARD:0005757 {source="MONDO:equivalentTo"} xref: GARD:0012665 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E25.0 {source="ORDO:90794/attributed", source="ORDO:90794/ntbt", source="Orphanet:90794"} +xref: ICD10CM:E25.0 {source="Orphanet:90794", source="Orphanet:90794/attributed", source="Orphanet:90794/ntbt"} xref: MESH:C535979 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C131087 {source="MONDO:equivalentTo"} -xref: OMIM:201910 {source="GARD:0005757", source="ORDO:90794/e", source="MONDO:equivalentTo", source="Orphanet:90794"} +xref: OMIM:201910 {source="GARD:0005757", source="MONDO:equivalentTo", source="Orphanet:90794", source="Orphanet:90794/e"} xref: Orphanet:418 {source="MONDO:subClassOf", source="OMIM:201910"} xref: Orphanet:90794 {source="MONDO:equivalentTo", source="OMIM:201910"} xref: Orphanet:95698 {source="OMIM:201910"} @@ -161125,16 +161094,16 @@ synonym: "CYP11B1 deficiency" EXACT [Orphanet:90795] synonym: "P450C11B1 deficiency" RELATED [OMIM:202010] synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] xref: GARD:0005658 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E25.0 {source="ORDO:90795/attributed", source="ORDO:90795/ntbt", source="Orphanet:90795"} +xref: ICD10CM:E25.0 {source="Orphanet:90795", source="Orphanet:90795/attributed", source="Orphanet:90795/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10000002 {source="ORDO:90795/e", source="Orphanet:90795"} -xref: MESH:C535978 {source="ORDO:90795/e", source="MONDO:equivalentTo", source="Orphanet:90795"} +xref: MedDRA:10000002 {source="Orphanet:90795", source="Orphanet:90795/e"} +xref: MESH:C535978 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"} xref: NCIT:C131085 {source="MONDO:equivalentTo"} -xref: OMIM:202010 {source="ORDO:90795/e", source="MONDO:equivalentTo", source="Orphanet:90795"} +xref: OMIM:202010 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"} xref: Orphanet:418 {source="MONDO:subClassOf", source="OMIM:202010"} xref: Orphanet:90795 {source="OMIM:202010", source="MONDO:equivalentTo"} xref: SCTID:124214007 {source="MONDO:equivalentTo"} -xref: UMLS:C0268292 {source="OMIM:202010", source="ORDO:90795/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131085", source="Orphanet:90795"} +xref: UMLS:C0268292 {source="OMIM:202010", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131085", source="Orphanet:90795", source="Orphanet:90795/e"} is_a: MONDO:0018479 {source="MESH:C535978", source="Orphanet:90795", source="linkedlifedata"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:90795"} ! 46,XX disorder of sex development induced by fetal androgens excess relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2591 {source="mim2gene_medgen"} ! CYP11B1 @@ -161159,9 +161128,9 @@ synonym: "CAH due to 17-alpha-hydroxylase deficiency" EXACT [Orphanet:90793] synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793] synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469] xref: GARD:0001469 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E25.0 {source="Orphanet:90793", source="ORDO:90793/attributed", source="ORDO:90793/ntbt"} +xref: ICD10CM:E25.0 {source="Orphanet:90793", source="Orphanet:90793/attributed", source="Orphanet:90793/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:202110 {source="ORDO:90793/e", source="MONDO:equivalentTo", source="Orphanet:90793"} +xref: OMIM:202110 {source="MONDO:equivalentTo", source="Orphanet:90793", source="Orphanet:90793/e"} xref: Orphanet:418 {source="MONDO:subClassOf", source="OMIM:202110"} xref: Orphanet:90793 {source="OMIM:202110", source="MONDO:equivalentTo"} xref: SCTID:124220008 {source="MONDO:equivalentTo"} @@ -161188,9 +161157,9 @@ subset: ordo_disease {source="Orphanet:95700"} synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [OMIM:202150] synonym: "familial adrenal hypoplasia with absent pituitary LH" EXACT [Orphanet:95700] synonym: "familial adrenal hypoplasia, miniature type" EXACT [Orphanet:95700] -xref: ICD10CM:E27.1 {source="ORDO:95700/attributed", source="ORDO:95700/ntbt", source="Orphanet:95700"} +xref: ICD10CM:E27.1 {source="Orphanet:95700", source="Orphanet:95700/attributed", source="Orphanet:95700/ntbt"} xref: MESH:C565976 {source="MONDO:equivalentTo"} -xref: OMIM:202150 {source="ORDO:95700/e", source="MONDO:equivalentTo", source="Orphanet:95700"} +xref: OMIM:202150 {source="MONDO:equivalentTo", source="Orphanet:95700", source="Orphanet:95700/e"} xref: Orphanet:95700 {source="MONDO:equivalentTo", source="OMIM:202150"} xref: UMLS:C1859978 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:95700", source="OMIM:202150"} is_a: MONDO:0005151 ! endocrine system disorder @@ -161213,7 +161182,7 @@ synonym: "adrenal hypoplasia, cytomegalic type" EXACT [OMIM:202155] xref: OMIM:202155 {source="MONDO:equivalentTo"} xref: Orphanet:95702 {source="MONDO:subClassOf", source="OMIM:202155"} xref: UMLS:C1859977 {source="NCBI:mim2gene_medline", source="OMIM:202155", source="MONDO:equivalentTo"} -is_a: MONDO:0010264 {source="ORDO:95702/btnt"} ! X-linked adrenal hypoplasia congenita +is_a: MONDO:0010264 {source="Orphanet:95702/btnt"} ! X-linked adrenal hypoplasia congenita property_value: confidence "2.315789473684211" xsd:double [Term] @@ -161226,14 +161195,14 @@ synonym: "GCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202200] synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202200] xref: DOID:0080620 {source="MONDO:equivalentTo"} xref: GARD:0002498 {source="MONDO:equivalentTo"} -xref: ICD10CM:E27.1 {source="ORDO:361/attributed", source="ORDO:361/ntbt", source="Orphanet:361"} +xref: ICD10CM:E27.1 {source="Orphanet:361/attributed", source="Orphanet:361/ntbt", source="Orphanet:361"} xref: MESH:C565974 {source="MONDO:equivalentTo"} xref: NCIT:C120446 {source="MONDO:equivalentTo"} -xref: OMIM:202200 {source="ORDO:361/e", source="MONDO:superClassOf", source="Orphanet:361"} -xref: OMIM:202355 {source="ORDO:361/btnt", source="MONDO:superClassOf", source="Orphanet:361"} -xref: OMIM:607398 {source="ORDO:361/btnt", source="MONDO:superClassOf", source="Orphanet:361"} -xref: OMIM:609197 {source="ORDO:361/btnt", source="MONDO:superClassOf", source="Orphanet:361"} -xref: OMIM:614736 {source="ORDO:361/btnt", source="MONDO:superClassOf", source="Orphanet:361"} +xref: OMIM:202200 {source="Orphanet:361/e", source="MONDO:superClassOf", source="Orphanet:361"} +xref: OMIM:202355 {source="MONDO:superClassOf", source="Orphanet:361/btnt", source="Orphanet:361"} +xref: OMIM:607398 {source="MONDO:superClassOf", source="Orphanet:361/btnt", source="Orphanet:361"} +xref: OMIM:609197 {source="MONDO:superClassOf", source="Orphanet:361/btnt", source="Orphanet:361"} +xref: OMIM:614736 {source="MONDO:superClassOf", source="Orphanet:361/btnt", source="Orphanet:361"} xref: OMIMPS:202200 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:202200", source="MONDO:equivalentTo"} xref: SCTID:765326001 {source="MONDO:equivalentTo"} @@ -161257,7 +161226,7 @@ xref: OMIM:202300 {source="MONDO:equivalentTo"} xref: Orphanet:1501 {source="MONDO:subClassOf", source="OMIM:202300"} xref: UMLS:C1859972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202300"} xref: UMLS:C1859973 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:202300"} -is_a: MONDO:0006639 {source="MONDO:Redundant", source="ORDO:1501/btnt"} ! adrenal cortex carcinoma +is_a: MONDO:0006639 {source="MONDO:Redundant", source="Orphanet:1501/btnt"} ! adrenal cortex carcinoma intersection_of: MONDO:0006639 ! adrenal cortex carcinoma intersection_of: has_modifier MONDO:0021152 ! inherited relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11998 {source="mim2gene_medgen"} ! TP53 @@ -161272,7 +161241,7 @@ xref: MESH:C565971 {source="MONDO:equivalentTo"} xref: OMIM:202355 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="MONDO:subClassOf", source="OMIM:202355"} xref: UMLS:C1859971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202355"} -is_a: MONDO:0008733 {source="ORDO:361/btnt"} ! familial glucocorticoid deficiency +is_a: MONDO:0008733 {source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency property_value: confidence "0.9297058823529412" xsd:double [Term] @@ -161308,11 +161277,11 @@ synonym: "fibrinogen deficiency" EXACT [DOID:2236] synonym: "hypofibrinogenemia, congenital" RELATED [OMIM:202400] xref: DOID:2236 {source="MONDO:equivalentTo"} xref: GARD:0005761 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D68.2 {source="ORDO:98880/attributed", source="ORDO:98880/ntbt", source="DOID:2236", source="Orphanet:98880"} +xref: ICD10CM:D68.2 {source="DOID:2236", source="Orphanet:98880/attributed", source="Orphanet:98880/ntbt", source="Orphanet:98880"} xref: MESH:D000347 {source="MONDO:equivalentTo", source="DOID:2236"} xref: NCIT:C26692 {source="DOID:2236"} xref: NCIT:C98130 {source="MONDO:equivalentTo", source="DOID:2236"} -xref: OMIM:202400 {source="MONDO:equivalentTo", source="DOID:2236", source="ORDO:98880/e", source="Orphanet:98880"} +xref: OMIM:202400 {source="Orphanet:98880/e", source="MONDO:equivalentTo", source="DOID:2236", source="Orphanet:98880"} xref: Orphanet:101041 {source="OMIM:202400", source="MONDO:superClassOf"} xref: Orphanet:335 {source="MONDO:subClassOf", source="OMIM:202400"} xref: Orphanet:98880 {source="MONDO:equivalentTo", source="OMIM:202400"} @@ -161357,7 +161326,7 @@ name: agnathia-otocephaly complex def: "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." [Orphanet:990] subset: ordo_malformation_syndrome {source="Orphanet:990"} synonym: "agnathia-holoprosencephaly" RELATED [GARD:0009126] -synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, ORDO:990] +synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, Orphanet:990] synonym: "agnathia-otocephaly complex" EXACT [MONDO:Lexical, OMIM:202650] synonym: "AGOTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202650] synonym: "Dysgnathia Complex agnathia-holoprosencephaly" RELATED [OMIM:202650] @@ -161367,10 +161336,10 @@ synonym: "otocephaly" EXACT [DOID:0060341, OMIM:202650] xref: DOID:0060341 {source="MONDO:equivalentTo"} xref: GARD:0009126 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD10CM:Q18.2 {source="DOID:0060341"} -xref: ICD10CM:Q87.8 {source="ORDO:990/attributed", source="ORDO:990/ntbt", source="Orphanet:990"} +xref: ICD10CM:Q87.8 {source="Orphanet:990/attributed", source="Orphanet:990/ntbt", source="Orphanet:990"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C124568 {source="MONDO:equivalentTo"} -xref: OMIM:202650 {source="DOID:0060341", source="MONDO:equivalentTo", source="ORDO:990/e", source="Orphanet:990"} +xref: OMIM:202650 {source="DOID:0060341", source="Orphanet:990/e", source="MONDO:equivalentTo", source="Orphanet:990"} xref: Orphanet:990 {source="DOID:0060341", source="OMIM:202650", source="MONDO:equivalentTo"} xref: SCTID:48180002 {source="MONDO:equivalentTo"} xref: UMLS:C0265242 {source="OMIM:202650", source="MONDO:notFoundInDiseaseSubset"} @@ -161393,9 +161362,9 @@ synonym: "PAGOD syndrome" EXACT [OMIM:202660] synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" RELATED [GARD:0003086] synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [Orphanet:991] xref: GARD:0003086 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:991/attributed", source="ORDO:991/ntbt", source="Orphanet:991"} +xref: ICD10CM:Q87.8 {source="Orphanet:991/attributed", source="Orphanet:991/ntbt", source="Orphanet:991"} xref: MESH:C537018 {source="MONDO:equivalentTo"} -xref: OMIM:202660 {source="MONDO:equivalentTo", source="ORDO:991/e", source="Orphanet:991"} +xref: OMIM:202660 {source="Orphanet:991/e", source="MONDO:equivalentTo", source="Orphanet:991"} xref: Orphanet:991 {source="OMIM:202660", source="MONDO:equivalentTo"} xref: SCTID:722132007 {source="MONDO:equivalentTo"} xref: UMLS:C1859967 {source="OMIM:202660", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -161419,10 +161388,10 @@ subset: ordo_disease {source="Orphanet:486"} synonym: "severe congenital neutropenia autosomal dominant" RELATED [GARD:0009558] synonym: "severe congenital neutropenia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:0009558 {source="MONDO:equivalentTo"} -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="ORDO:486/attributed", source="ORDO:486/ntbt", source="Orphanet:486"} -xref: OMIM:202700 {source="MONDO:superClassOf", source="ORDO:486/e", source="Orphanet:486"} -xref: OMIM:257100 {source="ORDO:486/btnt", source="MONDO:superClassOf", source="Orphanet:486"} -xref: OMIM:613107 {source="ORDO:486/btnt", source="MONDO:superClassOf", source="Orphanet:486"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:486/attributed", source="Orphanet:486/ntbt", source="Orphanet:486"} +xref: OMIM:202700 {source="Orphanet:486/e", source="MONDO:superClassOf", source="Orphanet:486"} +xref: OMIM:257100 {source="Orphanet:486/btnt", source="MONDO:superClassOf", source="Orphanet:486"} +xref: OMIM:613107 {source="Orphanet:486/btnt", source="MONDO:superClassOf", source="Orphanet:486"} xref: Orphanet:486 {source="MONDO:equivalentTo", source="OMIM:202700"} xref: UMLS:C1859966 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202700"} is_a: MONDO:0018542 {source="DC-OMIM:202700", source="MONDO:Redundant", source="OMIM:202700", source="Orphanet:486"} ! severe congenital neutropenia @@ -161441,7 +161410,7 @@ synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabete synonym: "Stimmler syndrome" EXACT [OMIM:202900] xref: GARD:0005026 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C565968 {source="MONDO:equivalentTo"} -xref: OMIM:202900 {source="Orphanet:3199", source="MONDO:equivalentTo", source="ORDO:3199/e"} +xref: OMIM:202900 {source="Orphanet:3199", source="MONDO:equivalentTo", source="Orphanet:3199/e"} xref: Orphanet:3199 {source="MONDO:equivalentTo", source="OMIM:202900"} xref: SCTID:733072002 {source="MONDO:equivalentTo"} xref: UMLS:C1859965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:202900"} @@ -161459,11 +161428,11 @@ synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [OMIM:20 synonym: "coloboma of alar-nasal cartilages with telecanthus" RELATED [GARD:0000588] synonym: "frontonasal dysplasia with alar clefts" RELATED [OMIM:203000] xref: GARD:0000588 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:2007/attributed", source="ORDO:2007/ntbt", source="Orphanet:2007"} +xref: ICD10CM:Q75.8 {source="Orphanet:2007", source="Orphanet:2007/attributed", source="Orphanet:2007/ntbt"} xref: MESH:C535967 {source="MONDO:equivalentTo"} -xref: OMIM:203000 {source="MONDO:equivalentTo", source="Orphanet:2007", source="ORDO:2007/e"} +xref: OMIM:203000 {source="MONDO:equivalentTo", source="Orphanet:2007", source="Orphanet:2007/e"} xref: Orphanet:2007 {source="OMIM:203000", source="MONDO:equivalentTo"} -xref: UMLS:C1859964 {source="OMIM:203000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2007", source="ORDO:2007/e"} +xref: UMLS:C1859964 {source="OMIM:203000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2007", source="Orphanet:2007/e"} is_a: MONDO:0015161 {source="Orphanet:2007", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2007", source="Orphanet:2007/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2007"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -161488,9 +161457,9 @@ synonym: "TYR oculocutaneous albinism" EXACT [MONDO:patterns/disease_series_by_g synonym: "Tyr oculocutaneous albinism" EXACT [MONDO:design_pattern] synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431] xref: DOID:0070094 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:79431/attributed", source="ORDO:79431/ntbt", source="Orphanet:79431"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:79431/attributed", source="Orphanet:79431/ntbt", source="Orphanet:79431"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:203100 {source="MONDO:equivalentTo", source="ORDO:79431/e", source="DOID:0070094", source="Orphanet:79431"} +xref: OMIM:203100 {source="Orphanet:79431/e", source="MONDO:equivalentTo", source="DOID:0070094", source="Orphanet:79431"} xref: Orphanet:352731 {source="MONDO:subClassOf", source="OMIM:203100"} xref: Orphanet:79431 {source="OMIM:203100", source="MONDO:equivalentTo"} xref: SCTID:6483008 {source="MONDO:equivalentTo"} @@ -161526,11 +161495,11 @@ synonym: "oculocutaneous albinism, tyrosinase-positive" EXACT [DOID:0070096, OMI synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038] xref: DOID:0070096 {source="MONDO:equivalentTo"} xref: GARD:0004038 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:79432/attributed", source="ORDO:79432/ntbt", source="Orphanet:79432"} -xref: MESH:C537730 {source="MONDO:equivalentTo", source="ORDO:79432/e", source="Orphanet:79432"} -xref: OMIM:203200 {source="MONDO:equivalentTo", source="ORDO:79432/e", source="Orphanet:79432", source="DOID:0070096"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:79432/attributed", source="Orphanet:79432/ntbt", source="Orphanet:79432"} +xref: MESH:C537730 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432"} +xref: OMIM:203200 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432", source="DOID:0070096"} xref: Orphanet:79432 {source="OMIM:203200", source="MONDO:equivalentTo"} -xref: UMLS:C0268495 {source="NCBI:mim2gene_medline", source="OMIM:203200", source="MONDO:equivalentTo", source="ORDO:79432/e", source="Orphanet:79432"} +xref: UMLS:C0268495 {source="Orphanet:79432/e", source="NCBI:mim2gene_medline", source="OMIM:203200", source="MONDO:equivalentTo", source="Orphanet:79432"} xref: UMLS:C0268497 {source="OMIM:203200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018910 {source="DC-OMIM:203200", source="DOID:0070096", source="MESH:C537730", source="OMIM:203200", source="Orphanet:79432"} ! oculocutaneous albinism relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -161561,17 +161530,17 @@ synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433] xref: DOID:0070097 {source="MONDO:equivalentTo"} xref: GARD:0004039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0009641 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:79433/attributed", source="ORDO:79433/ntbt", source="Orphanet:79433"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:79433/attributed", source="Orphanet:79433/ntbt", source="Orphanet:79433"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537189 {source="ORDO:79433/e", source="Orphanet:79433"} -xref: MESH:C537731 {source="MONDO:equivalentTo", source="ORDO:79433/e", source="Orphanet:79433"} -xref: OMIM:203290 {source="DOID:0070097", source="MONDO:equivalentTo", source="ORDO:79433/e", source="Orphanet:79433"} +xref: MESH:C537189 {source="Orphanet:79433/e", source="Orphanet:79433"} +xref: MESH:C537731 {source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"} +xref: OMIM:203290 {source="DOID:0070097", source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"} xref: OMIM:278400 {source="MONDO:equivalentObsolete", source="GARD:0009641"} xref: Orphanet:79433 {source="MONDO:equivalentTo", source="OMIM:203290"} xref: SCTID:63450009 {source="MONDO:equivalentTo"} -xref: UMLS:C0342683 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009641", source="OMIM:203290", source="ORDO:79433/e", source="Orphanet:79433"} +xref: UMLS:C0342683 {source="Orphanet:79433/e", source="MONDO:notFoundInDiseaseSubset", source="GARD:0009641", source="OMIM:203290", source="Orphanet:79433"} xref: UMLS:C1859932 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931599 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79433/e", source="Orphanet:79433"} +xref: UMLS:C2931599 {source="Orphanet:79433/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79433"} is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="MONDO:Redundant", source="OMIM:203290", source="Orphanet:79433", source="linkedlifedata", source="linkedlifedata/inferred"} ! oculocutaneous albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12450 ! TYRP1 @@ -161596,7 +161565,7 @@ xref: OMIM:203300 {source="MONDO:equivalentTo", source="DOID:0060539"} xref: Orphanet:231500 {source="MONDO:subClassOf", source="OMIM:203300"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:203300"} xref: UMLS:C2931875 {source="OMIM:203300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016501 {source="ORDO:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis +is_a: MONDO:0016501 {source="Orphanet:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060539", source="MESH:C538539", source="MONDO:Redundant", source="NCIT:C150367", source="OMIM:203300", source="indirect"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5163 ! HPS1 @@ -161614,14 +161583,14 @@ synonym: "PHP II" RELATED [GARD:0010682] synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203330] synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330] xref: GARD:0010682 {source="MONDO:equivalentTo"} -xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="ORDO:94090/attributed", source="ORDO:94090/ntbt", source="Orphanet:94090"} +xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="Orphanet:94090", source="Orphanet:94090/attributed", source="Orphanet:94090/ntbt"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C548077 {source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090"} -xref: OMIM:203330 {source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090"} +xref: MESH:C548077 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} +xref: OMIM:203330 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} xref: Orphanet:94090 {source="OMIM:203330", source="MONDO:equivalentTo"} xref: SCTID:42183005 {source="MONDO:equivalentTo"} -xref: UMLS:C0271870 {source="ORDO:94090/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94090"} -xref: UMLS:C2932717 {source="OMIM:203330", source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090"} +xref: UMLS:C0271870 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94090", source="Orphanet:94090/e"} +xref: UMLS:C2932717 {source="OMIM:203330", source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} xref: UMLS:CN206737 {source="MONDO:equivalentTo"} is_a: MONDO:0019992 {source="MONDO:0018700-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism property_value: confidence "3.533333333333334" xsd:double @@ -161638,12 +161607,12 @@ synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [OMIM:203340 synonym: "Castro Gago-Pombo-Novo syndrome" EXACT [Orphanet:2513] synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340] xref: GARD:0003604 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2513/attributed", source="ORDO:2513/ntbt", source="Orphanet:2513"} -xref: MESH:C537322 {source="MONDO:equivalentTo", source="Orphanet:2513", source="ORDO:2513/e"} -xref: OMIM:203340 {source="MONDO:equivalentTo", source="Orphanet:2513", source="ORDO:2513/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2513", source="Orphanet:2513/attributed", source="Orphanet:2513/ntbt"} +xref: MESH:C537322 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} +xref: OMIM:203340 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} xref: Orphanet:2513 {source="OMIM:203340", source="MONDO:equivalentTo"} xref: SCTID:719377004 {source="MONDO:equivalentTo"} -xref: UMLS:C1859910 {source="OMIM:203340", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2513", source="ORDO:2513/e"} +xref: UMLS:C1859910 {source="OMIM:203340", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"} is_a: MONDO:0015161 {source="Orphanet:2513", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2513", source="Orphanet:2513/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2513"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -161685,7 +161654,7 @@ xref: Orphanet:99763 {source="MONDO:subClassOf", source="OMIM:203400", source="G xref: SCTID:47757001 {source="MONDO:equivalentTo"} xref: UMLS:C0268293 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:203400", source="GARD:0005660"} xref: UMLS:CN074214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020489 {source="ORDO:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1 +is_a: MONDO:0020489 {source="Orphanet:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1 relationship: disease_has_basis_in_disruption_of GO:0008202 ! steroid metabolic process relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2592 {source="mim2gene_medgen"} ! CYP11B2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -161706,13 +161675,13 @@ synonym: "AxD" EXACT [Orphanet:58] synonym: "megalencephaly in infancy accompanied by progressive spasticity and dementia" RELATED [GARD:0005774] xref: DOID:4252 {source="MONDO:equivalentTo"} xref: GARD:0005774 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:58", source="ORDO:58/attributed", source="ORDO:58/ntbt"} -xref: MESH:D038261 {source="Orphanet:58", source="ORDO:58/e", source="MONDO:equivalentTo", source="DOID:4252"} +xref: ICD10CM:E75.2 {source="Orphanet:58/attributed", source="Orphanet:58/ntbt", source="Orphanet:58"} +xref: MESH:D038261 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} xref: NCIT:C84545 {source="MONDO:equivalentTo", source="DOID:4252"} -xref: OMIM:203450 {source="Orphanet:58", source="ORDO:58/e", source="MONDO:equivalentTo", source="DOID:4252"} +xref: OMIM:203450 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} xref: Orphanet:58 {source="OMIM:203450", source="MONDO:equivalentTo"} xref: SCTID:81854007 {source="MONDO:equivalentTo", source="DOID:4252"} -xref: UMLS:C0270726 {source="OMIM:203450", source="NCIT:C84545", source="Orphanet:58", source="NCBI:mim2gene_medline", source="ORDO:58/e", source="MONDO:equivalentTo", source="DOID:4252"} +xref: UMLS:C0270726 {source="OMIM:203450", source="NCIT:C84545", source="Orphanet:58", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} is_a: MONDO:0005559 {source="Orphanet:58", source="indirect"} ! neurodegenerative disease is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukodystrophy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:58"} ! inherited neurodegenerative disorder @@ -161739,14 +161708,14 @@ synonym: "homogentisic acidura" RELATED [GARD:0005775] synonym: "ochronosis, hereditary" RELATED [GARD:0005775] xref: DOID:9270 {source="MONDO:equivalentTo"} xref: GARD:0005775 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.2 {source="Orphanet:56", source="ORDO:56/inclusion", source="ORDO:56/ntbt"} +xref: ICD10CM:E70.2 {source="Orphanet:56/inclusion", source="Orphanet:56", source="Orphanet:56/ntbt"} xref: ICD10CM:E70.29 {source="DOID:9270"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10001689 {source="Orphanet:56", source="ORDO:56/e"} -xref: MESH:C537862 {source="Orphanet:56", source="ORDO:56/e"} -xref: MESH:D000474 {source="Orphanet:56", source="ORDO:56/e", source="DOID:9270", source="MONDO:equivalentTo"} +xref: MedDRA:10001689 {source="Orphanet:56", source="Orphanet:56/e"} +xref: MESH:C537862 {source="Orphanet:56", source="Orphanet:56/e"} +xref: MESH:D000474 {source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="Orphanet:56/e"} xref: NCIT:C84546 {source="DOID:9270", source="MONDO:equivalentTo"} -xref: OMIM:203500 {source="Orphanet:56", source="ORDO:56/e", source="DOID:9270", source="MONDO:equivalentTo"} +xref: OMIM:203500 {source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="Orphanet:56/e"} xref: Orphanet:56 {source="DOID:9270", source="MONDO:equivalentTo", source="OMIM:203500"} xref: SCTID:124207005 {source="DOID:9270"} xref: SCTID:190689001 {source="DOID:9270"} @@ -161755,8 +161724,8 @@ xref: SCTID:267418001 {source="DOID:9270"} xref: SCTID:360378009 {source="DOID:9270", source="MONDO:equivalentTo"} xref: SCTID:360381004 {source="DOID:9270"} xref: SCTID:367388008 {source="DOID:9270"} -xref: UMLS:C0002066 {source="NCIT:C84546", source="Orphanet:56", source="ORDO:56/e", source="DOID:9270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:203500"} -xref: UMLS:C2931645 {source="Orphanet:56", source="ORDO:56/e", source="MONDO:equivalentTo"} +xref: UMLS:C0002066 {source="NCIT:C84546", source="Orphanet:56", source="DOID:9270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:203500", source="Orphanet:56/e"} +xref: UMLS:C2931645 {source="Orphanet:56", source="MONDO:equivalentTo", source="Orphanet:56/e"} is_a: MONDO:0004736 {source="DOID:9270", source="MESH:D000474", source="indirect"} ! inherited amino acid metabolic disorder is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005093 ! skin disorder @@ -161779,11 +161748,11 @@ synonym: "ACD-intellectual disability syndrome" EXACT [Orphanet:1005] synonym: "alopecia-contractures-dwarfism intellectual disability syndrome" RELATED [OMIM:203550] synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] xref: GARD:0000605 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1005/attributed", source="ORDO:1005/ntbt", source="Orphanet:1005"} -xref: MESH:C537051 {source="ORDO:1005/e", source="MONDO:equivalentTo", source="Orphanet:1005"} -xref: OMIM:203550 {source="ORDO:1005/e", source="MONDO:equivalentTo", source="Orphanet:1005"} +xref: ICD10CM:Q87.8 {source="Orphanet:1005", source="Orphanet:1005/attributed", source="Orphanet:1005/ntbt"} +xref: MESH:C537051 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} +xref: OMIM:203550 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} xref: Orphanet:1005 {source="OMIM:203550", source="MONDO:equivalentTo"} -xref: UMLS:C0795895 {source="OMIM:203550", source="ORDO:1005/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1005"} +xref: UMLS:C0795895 {source="OMIM:203550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"} is_a: MONDO:0000508 {source="Orphanet:1005"} ! syndromic intellectual disability is_a: MONDO:0019287 {source="Orphanet:1005"} ! ectodermal dysplasia syndrome relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -161799,11 +161768,11 @@ synonym: "alopecia-epilepsy-intellectual disability syndrome, Moynahan type" EXA synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [OMIM:203600] synonym: "Moynahan alopecia syndrome" RELATED [OMIM:203600] xref: GARD:0000606 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.4 {source="Orphanet:2574", source="ORDO:2574/attributed", source="ORDO:2574/ntbt"} +xref: ICD10CM:G40.4 {source="Orphanet:2574/attributed", source="Orphanet:2574/ntbt", source="Orphanet:2574"} xref: MESH:C537052 {source="MONDO:equivalentTo"} -xref: OMIM:203600 {source="ORDO:2574/e", source="Orphanet:2574", source="MONDO:equivalentTo"} +xref: OMIM:203600 {source="Orphanet:2574", source="MONDO:equivalentTo", source="Orphanet:2574/e"} xref: Orphanet:2574 {source="MONDO:equivalentTo", source="OMIM:203600"} -xref: UMLS:C0265328 {source="ORDO:2574/e", source="Orphanet:2574", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:203600"} +xref: UMLS:C0265328 {source="Orphanet:2574", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:203600", source="Orphanet:2574/e"} is_a: MONDO:0000508 {source="Orphanet:2574"} ! syndromic intellectual disability is_a: MONDO:0015650 {source="Orphanet:2574"} ! epilepsy syndrome is_a: MONDO:0019289 {source="Orphanet:2574"} ! hyperpigmentation of the skin @@ -161824,10 +161793,10 @@ synonym: "AMR syndrome 1" RELATED [GARD:0000612] synonym: "Perniola-Krajewska-Carnevale syndrome" EXACT [Orphanet:2850] xref: DOID:0080627 {source="MONDO:equivalentTo"} xref: GARD:0000612 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2850", source="ORDO:2850/attributed", source="ORDO:2850/ntbt"} -xref: OMIM:203650 {source="ORDO:2850/e", source="MONDO:superClassOf"} -xref: OMIM:610422 {source="MONDO:superClassOf", source="ORDO:2850/btnt"} -xref: OMIM:613930 {source="MONDO:superClassOf", source="ORDO:2850/btnt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2850", source="Orphanet:2850/attributed", source="Orphanet:2850/ntbt"} +xref: OMIM:203650 {source="MONDO:superClassOf", source="Orphanet:2850/e"} +xref: OMIM:610422 {source="Orphanet:2850/btnt", source="MONDO:superClassOf"} +xref: OMIM:613930 {source="Orphanet:2850/btnt", source="MONDO:superClassOf"} xref: OMIMPS:203650 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:203650", source="MONDO:equivalentTo"} xref: SCTID:716191002 {source="MONDO:equivalentTo"} @@ -161852,16 +161821,16 @@ synonym: "atrichia, generalized" EXACT [OMIM:203655] synonym: "AU" RELATED ABBREVIATION [GARD:0000614] xref: DOID:0050634 {source="MONDO:equivalentTo"} xref: GARD:0000614 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L63.1 {source="ORDO:701/e", source="ORDO:701/specific", source="Orphanet:701"} +xref: ICD10CM:L63.1 {source="Orphanet:701", source="Orphanet:701/specific", source="Orphanet:701/e"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10001767 {source="ORDO:701/e", source="Orphanet:701"} -xref: MESH:C537055 {source="ORDO:701/e", source="Orphanet:701", source="MONDO:equivalentTo"} -xref: OMIM:104000 {source="Orphanet:701", source="ORDO:701/ntbt", source="MONDO:directSiblingOf"} -xref: OMIM:203655 {source="Orphanet:701", source="DOID:0050634", source="MONDO:equivalentTo", source="ORDO:701/btnt"} -xref: OMIM:610753 {source="Orphanet:701", source="MONDO:superClassOf", source="ORDO:701/btnt"} +xref: MedDRA:10001767 {source="Orphanet:701", source="Orphanet:701/e"} +xref: MESH:C537055 {source="Orphanet:701", source="MONDO:equivalentTo", source="Orphanet:701/e"} +xref: OMIM:104000 {source="Orphanet:701/ntbt", source="Orphanet:701", source="MONDO:directSiblingOf"} +xref: OMIM:203655 {source="Orphanet:701/btnt", source="Orphanet:701", source="DOID:0050634", source="MONDO:equivalentTo"} +xref: OMIM:610753 {source="Orphanet:701/btnt", source="Orphanet:701", source="MONDO:superClassOf"} xref: Orphanet:701 {source="MONDO:equivalentTo", source="OMIM:203655"} xref: SCTID:86166000 {source="MONDO:equivalentTo"} -xref: UMLS:C0263505 {source="ORDO:701/e", source="Orphanet:701", source="MONDO:equivalentTo"} +xref: UMLS:C0263505 {source="Orphanet:701", source="MONDO:equivalentTo", source="Orphanet:701/e"} xref: UMLS:C1859877 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:203655"} is_a: MONDO:0000005 {source="OMIM:203655"} ! alopecia, isolated is_a: MONDO:0021034 {source="MONDO:Redundant", source="Orphanet:701"} ! genetic alopecia @@ -161903,16 +161872,16 @@ synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:1442] xref: DOID:0080122 {source="MONDO:equivalentTo"} xref: DOID:1442 {source="MONDO:equivalentObsolete"} xref: GARD:0005783 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G31.8 {source="ORDO:726/ntbt", source="Orphanet:726", source="ORDO:726/inclusion"} +xref: ICD10CM:G31.8 {source="Orphanet:726/inclusion", source="Orphanet:726", source="Orphanet:726/ntbt"} xref: ICD10CM:G31.81 {source="DOID:1442"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062943 {source="ORDO:726/e", source="Orphanet:726"} -xref: MESH:D002549 {source="DOID:1442", source="ORDO:726/e", source="Orphanet:726"} +xref: MedDRA:10062943 {source="Orphanet:726", source="Orphanet:726/e"} +xref: MESH:D002549 {source="DOID:1442", source="Orphanet:726", source="Orphanet:726/e"} xref: NCIT:C35257 {source="DOID:1442", source="MONDO:equivalentTo"} -xref: OMIM:203700 {source="DOID:0080122", source="DOID:1442", source="ORDO:726/e", source="MONDO:equivalentTo", source="Orphanet:726"} +xref: OMIM:203700 {source="DOID:0080122", source="DOID:1442", source="MONDO:equivalentTo", source="Orphanet:726", source="Orphanet:726/e"} xref: Orphanet:726 {source="MONDO:equivalentTo", source="OMIM:203700"} xref: SCTID:20415001 {source="DOID:1442", source="MONDO:equivalentTo"} -xref: UMLS:C0205710 {source="DOID:1442", source="NCBI:mim2gene_medline", source="ORDO:726/e", source="MONDO:equivalentTo", source="Orphanet:726", source="OMIM:203700", source="NCIT:C35257"} +xref: UMLS:C0205710 {source="DOID:1442", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:726", source="OMIM:203700", source="NCIT:C35257", source="Orphanet:726/e"} xref: UMLS:C3149842 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:203700"} is_a: MONDO:0002254 {source="NCIT:C35257"} ! syndromic disease is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder @@ -161941,12 +161910,12 @@ synonym: "Alpha-Kgd deficiency" RELATED [OMIM:203740] synonym: "oxoglutarate dehydrogenase deficiency" EXACT [OMIM:203740, OMIM:genemap2] synonym: "Oxoglutaric aciduria" RELATED [OMIM:203740] xref: GARD:0000617 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.8 {source="Orphanet:31", source="ORDO:31/attributed", source="ORDO:31/ntbt"} -xref: MESH:C536582 {source="Orphanet:31", source="MONDO:equivalentTo", source="ORDO:31/e"} -xref: OMIM:203740 {source="Orphanet:31", source="MONDO:equivalentTo", source="ORDO:31/e"} +xref: ICD10CM:E88.8 {source="Orphanet:31", source="Orphanet:31/attributed", source="Orphanet:31/ntbt"} +xref: MESH:C536582 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"} +xref: OMIM:203740 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"} xref: Orphanet:31 {source="OMIM:203740", source="MONDO:equivalentTo"} xref: SCTID:733630004 {source="MONDO:equivalentTo"} -xref: UMLS:C2752074 {source="Orphanet:31", source="OMIM:203740", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:31/e"} +xref: UMLS:C2752074 {source="Orphanet:31", source="OMIM:203740", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:31/e"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016790 {source="Orphanet:31"} ! tricarboxylic acid cycle disorder is_a: MONDO:0019058 {source="Orphanet:31"} ! neurometabolic disease @@ -161981,11 +161950,11 @@ synonym: "peroxisomal thiolase deficiency" EXACT [DOID:14723] synonym: "T2 deficiency" EXACT [OMIM:203750, Orphanet:134] xref: DOID:14723 {source="MONDO:equivalentTo"} xref: GARD:0000872 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:134/attributed", source="ORDO:134/ntbt", source="Orphanet:134"} +xref: ICD10CM:E71.1 {source="Orphanet:134/attributed", source="Orphanet:134/ntbt", source="Orphanet:134"} xref: MESH:C535434 {source="MONDO:equivalentTo"} xref: MESH:C535818 {source="DOID:14723"} xref: NCIT:C98841 {source="MONDO:equivalentTo"} -xref: OMIM:203750 {source="DOID:14723", source="MONDO:equivalentTo", source="ORDO:134/e", source="Orphanet:134"} +xref: OMIM:203750 {source="DOID:14723", source="Orphanet:134/e", source="MONDO:equivalentTo", source="Orphanet:134"} xref: Orphanet:134 {source="OMIM:203750", source="MONDO:equivalentTo"} xref: SCTID:238067002 {source="DOID:14723"} xref: UMLS:C1533628 {source="DOID:14723", source="MONDO:relatedTo"} @@ -162025,14 +161994,14 @@ synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_ synonym: "nephropathy and deafness" RELATED [GARD:0000625] xref: DOID:0110033 {source="MONDO:equivalentTo"} xref: GARD:0000625 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:88919/attributed", source="ORDO:88919/ntbt", source="Orphanet:88919"} -xref: MedDRA:10001843 {source="ORDO:88919/e", source="Orphanet:88919"} -xref: MESH:C536587 {source="ORDO:88919/e", source="Orphanet:88919"} -xref: OMIM:203780 {source="MONDO:equivalentTo", source="DOID:0110033", source="ORDO:88919/e", source="Orphanet:88919"} +xref: ICD10CM:Q87.8 {source="Orphanet:88919/attributed", source="Orphanet:88919/ntbt", source="Orphanet:88919"} +xref: MedDRA:10001843 {source="Orphanet:88919/e", source="Orphanet:88919"} +xref: MESH:C536587 {source="Orphanet:88919/e", source="Orphanet:88919"} +xref: OMIM:203780 {source="Orphanet:88919/e", source="MONDO:equivalentTo", source="DOID:0110033", source="Orphanet:88919"} xref: Orphanet:63 {source="MONDO:subClassOf", source="OMIM:203780"} xref: Orphanet:88919 {source="OMIM:203780", source="MONDO:equivalentTo", source="DOID:0110033"} xref: SCTID:717767009 {source="MONDO:equivalentTo"} -xref: UMLS:C1567744 {source="OMIM:203780", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:88919/e", source="Orphanet:88919"} +xref: UMLS:C1567744 {source="OMIM:203780", source="Orphanet:88919/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88919"} xref: UMLS:C2931254 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88919"} is_a: MONDO:0006025 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0018965 {source="DC-OMIM:203780", source="DOID:0110033", source="MONDO:Redundant", source="Orphanet:88919"} ! Alport syndrome @@ -162055,15 +162024,15 @@ synonym: "Alstrom's syndrome" RELATED [GARD:0005787] synonym: "Alström syndrome" EXACT [NCIT:C84549] xref: DOID:0050473 {source="MONDO:equivalentTo"} xref: GARD:0005787 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:64", source="ORDO:64/attributed", source="ORDO:64/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:64", source="Orphanet:64/attributed", source="Orphanet:64/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068783 {source="Orphanet:64", source="ORDO:64/e"} -xref: MESH:D056769 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="ORDO:64/e"} +xref: MedDRA:10068783 {source="Orphanet:64", source="Orphanet:64/e"} +xref: MESH:D056769 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="Orphanet:64/e"} xref: NCIT:C84549 {source="DOID:0050473", source="MONDO:equivalentTo"} -xref: OMIM:203800 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="ORDO:64/e"} +xref: OMIM:203800 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="Orphanet:64/e"} xref: Orphanet:64 {source="MONDO:equivalentTo", source="OMIM:203800"} xref: SCTID:63702009 {source="DOID:0050473", source="MONDO:equivalentTo"} -xref: UMLS:C0268425 {source="DOID:0050473", source="Orphanet:64", source="NCBI:mim2gene_medline", source="NCIT:C84549", source="MONDO:equivalentTo", source="OMIM:203800", source="ORDO:64/e"} +xref: UMLS:C0268425 {source="DOID:0050473", source="Orphanet:64", source="NCBI:mim2gene_medline", source="NCIT:C84549", source="MONDO:equivalentTo", source="Orphanet:64/e", source="OMIM:203800"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84549", source="indirect"} ! syndromic disease is_a: MONDO:0005308 {source="PMID:16722803", source="PMID:18178628", source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0006025 {source="DOID:0050473", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease @@ -162151,12 +162120,12 @@ subset: ordo_disease {source="Orphanet:1021"} synonym: "amaurosis congenita cone-rod type with congenital hypertrichosis" RELATED [GARD:0000637] synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [OMIM:204110] xref: GARD:0000637 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="Orphanet:1021", source="MONDO:directSiblingOf", source="ORDO:1021/attributed", source="ORDO:1021/ntbt"} -xref: MESH:C536604 {source="Orphanet:1021", source="MONDO:equivalentTo", source="ORDO:1021/e"} -xref: OMIM:204110 {source="Orphanet:1021", source="MONDO:equivalentTo", source="GARD:0000637", source="ORDO:1021/e"} +xref: ICD10CM:H35.5 {source="Orphanet:1021", source="Orphanet:1021/attributed", source="Orphanet:1021/ntbt", source="MONDO:directSiblingOf"} +xref: MESH:C536604 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e"} +xref: OMIM:204110 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e", source="GARD:0000637"} xref: Orphanet:1021 {source="OMIM:204110", source="MONDO:equivalentTo"} xref: SCTID:720983002 {source="MONDO:equivalentTo"} -xref: UMLS:C1857588 {source="OMIM:204110", source="Orphanet:1021", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1021/e"} +xref: UMLS:C1857588 {source="OMIM:204110", source="Orphanet:1021", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1021/e"} xref: UMLS:C1859843 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0000637"} is_a: MONDO:0019118 {source="MESH:C536604/inferred", source="Orphanet:1021", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy property_value: confidence "3.533333333333334" xsd:double @@ -162185,9 +162154,9 @@ synonym: "Vogt Spielmeyer disease" RELATED [GARD:0005897] synonym: "Vogt-Spielmeyer disease" RELATED [OMIM:204200] xref: DOID:0110731 {source="MONDO:equivalentTo"} xref: GARD:0005897 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110731", source="ORDO:228346/attributed", source="ORDO:228346/ntbt", source="Orphanet:228346"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110731", source="Orphanet:228346/attributed", source="Orphanet:228346/ntbt", source="Orphanet:228346"} xref: NCIT:C61258 {source="MONDO:equivalentTo"} -xref: OMIM:204200 {source="DOID:0110731", source="MONDO:equivalentTo", source="Orphanet:228346", source="ORDO:228346/e"} +xref: OMIM:204200 {source="DOID:0110731", source="Orphanet:228346/e", source="MONDO:equivalentTo", source="Orphanet:228346"} xref: Orphanet:228346 {source="DOID:0110731", source="OMIM:204200", source="MONDO:equivalentTo"} xref: Orphanet:79264 {source="MONDO:subClassOf", source="OMIM:204200"} xref: UMLS:C0751383 {source="NCIT:C61258", source="OMIM:204200", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -162216,8 +162185,8 @@ synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MOND synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4] xref: DOID:0110730 {source="MONDO:equivalentTo"} xref: GARD:0006845 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:228340/attributed", source="ORDO:228340/ntbt", source="Orphanet:228340", source="DOID:0110730"} -xref: OMIM:204300 {source="MONDO:equivalentTo", source="Orphanet:228340", source="ORDO:228340/e", source="DOID:0110730"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:228340", source="Orphanet:228340/attributed", source="Orphanet:228340/ntbt", source="DOID:0110730"} +xref: OMIM:204300 {source="MONDO:equivalentTo", source="Orphanet:228340", source="DOID:0110730", source="Orphanet:228340/e"} xref: Orphanet:228340 {source="OMIM:204300", source="MONDO:equivalentTo", source="DOID:0110730"} xref: Orphanet:79262 {source="MONDO:subClassOf", source="OMIM:204300"} xref: UMLS:C0022797 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:204300"} @@ -162249,9 +162218,9 @@ synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500] synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110726 {source="MONDO:equivalentTo"} xref: GARD:0003045 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:228349", source="DOID:0110726", source="ORDO:228349/attributed", source="ORDO:228349/ntbt"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:228349/attributed", source="Orphanet:228349/ntbt", source="Orphanet:228349", source="DOID:0110726"} xref: NCIT:C85864 {source="MONDO:equivalentTo"} -xref: OMIM:204500 {source="ORDO:228349/e", source="Orphanet:228349", source="MONDO:equivalentTo", source="DOID:0110726"} +xref: OMIM:204500 {source="Orphanet:228349", source="MONDO:equivalentTo", source="DOID:0110726", source="Orphanet:228349/e"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:204500"} xref: Orphanet:228349 {source="MONDO:equivalentTo", source="DOID:0110726", source="OMIM:204500"} xref: Orphanet:79264 {source="MONDO:subClassOf", source="OMIM:204500"} @@ -162282,7 +162251,7 @@ xref: MESH:C567147 {source="MONDO:equivalentTo"} xref: OMIM:204650 {source="MONDO:equivalentTo"} xref: Orphanet:100031 {source="MONDO:subClassOf", source="OMIM:204650"} xref: UMLS:C2673923 {source="OMIM:204650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015047 {source="MONDO:Redundant", source="ORDO:100031/btnt", source="indirect"} ! amelogenesis imperfecta type 1 +is_a: MONDO:0015047 {source="MONDO:Redundant", source="Orphanet:100031/btnt", source="indirect"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110056", source="MESH:C567147", source="MONDO:Redundant", source="OMIM:204650", source="indirect"} ! amelogenesis imperfecta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3344 {source="mim2gene_medgen"} ! ENAM @@ -162316,16 +162285,16 @@ synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:000 xref: DOID:0110066 {source="MONDO:equivalentTo"} xref: GARD:0000646 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0009860 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="Orphanet:171836", source="DOID:0110066", source="ORDO:171836/attributed", source="ORDO:171836/ntbt", source="ORDO:1031/attributed", source="ORDO:1031/ntbt", source="Orphanet:1031"} +xref: ICD10CM:K00.5 {source="Orphanet:171836/attributed", source="Orphanet:171836/ntbt", source="Orphanet:171836", source="Orphanet:1031/attributed", source="Orphanet:1031/ntbt", source="DOID:0110066", source="Orphanet:1031"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538241 {source="MONDO:equivalentTo", source="Orphanet:1031", source="ORDO:1031/e"} -xref: OMIM:204690 {source="MONDO:equivalentTo", source="DOID:0110066", source="Orphanet:1031", source="ORDO:1031/e"} -xref: OMIM:614253 {source="ORDO:171836/e", source="Orphanet:171836", source="MONDO:equivalentObsolete"} +xref: MESH:C538241 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="Orphanet:1031"} +xref: OMIM:204690 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="DOID:0110066", source="Orphanet:1031"} +xref: OMIM:614253 {source="Orphanet:171836", source="MONDO:equivalentObsolete", source="Orphanet:171836/e"} xref: Orphanet:1031 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0110066", source="OMIM:204690"} xref: Orphanet:171836 {source="MONDO:equivalentTo"} xref: SCTID:109477002 {source="MONDO:equivalentTo"} -xref: UMLS:C0403549 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1031", source="ORDO:1031/e"} -xref: UMLS:C2931783 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1031", source="OMIM:204690", source="ORDO:1031/e"} +xref: UMLS:C0403549 {source="Orphanet:1031/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1031"} +xref: UMLS:C2931783 {source="Orphanet:1031/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1031", source="OMIM:204690"} xref: UMLS:CN200302 {source="MONDO:equivalentTo"} is_a: MONDO:0019507 {source="DOID:0110066", source="MESH:C538241", source="MONDO:Redundant", source="OMIM:204690", source="Orphanet:171836", source="linkedlifedata"} ! amelogenesis imperfecta is_a: MONDO:0019743 {source="Orphanet:1031"} ! nephropathy secondary to a storage or other metabolic disease @@ -162363,7 +162332,7 @@ xref: Orphanet:100033 {source="MONDO:subClassOf", source="OMIM:204700"} xref: UMLS:C1290537 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009495"} xref: UMLS:C2673922 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:204700"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110057", source="MESH:C538242", source="MESH:C567146", source="MONDO:Redundant", source="OMIM:204700", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6365 ! KLK4 @@ -162394,9 +162363,9 @@ synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [OMIM:204750, O synonym: "AMOXAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:204750] synonym: "Ketoadipicaciduria" EXACT [OMIM:245130] xref: DOID:0111453 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="ORDO:79154/attributed", source="ORDO:79154/ntbt", source="Orphanet:79154"} +xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="Orphanet:79154/attributed", source="Orphanet:79154/ntbt", source="Orphanet:79154"} xref: MESH:C565453 {source="MONDO:equivalentTo"} -xref: OMIM:204750 {source="MONDO:equivalentTo", source="ORDO:79154/e", source="MONDO:preferredExternal", source="Orphanet:79154"} +xref: OMIM:204750 {source="Orphanet:79154/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:79154"} xref: OMIM:245130 {source="MONDO:equivalentTo"} xref: Orphanet:79154 {source="OMIM:204750", source="MONDO:equivalentTo"} xref: UMLS:C1855626 {source="OMIM:245130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -162456,13 +162425,13 @@ synonym: "primary familial amyloidosis of the cornea" EXACT [DOID:0060449, Orpha synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] xref: DOID:0060449 {source="MONDO:equivalentTo"} xref: GARD:0009647 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="ORDO:98957/attributed", source="ORDO:98957/ntbt", source="Orphanet:98957"} -xref: MESH:C535480 {source="ORDO:98957/e", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449"} +xref: ICD10CM:H18.5 {source="Orphanet:98957", source="Orphanet:98957/attributed", source="Orphanet:98957/ntbt"} +xref: MESH:C535480 {source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} xref: NCIT:C142805 {source="MONDO:equivalentTo"} -xref: OMIM:204870 {source="GARD:0009647", source="ORDO:98957/e", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449"} +xref: OMIM:204870 {source="GARD:0009647", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} xref: Orphanet:98957 {source="GARD:0009647", source="OMIM:204870", source="MONDO:equivalentTo", source="DOID:0060449"} xref: SCTID:418946006 {source="DOID:0060449"} -xref: UMLS:C0339273 {source="GARD:0009647", source="OMIM:204870", source="ORDO:98957/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449"} +xref: UMLS:C0339273 {source="GARD:0009647", source="OMIM:204870", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} is_a: MONDO:0000763 {source="DOID:0060449"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0004686 ! lattice corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98957"} ! superficial corneal dystrophy @@ -162515,7 +162484,7 @@ xref: OMIM:205100 {source="MONDO:equivalentTo", source="DOID:0060194"} xref: Orphanet:300605 {source="MONDO:subClassOf", source="OMIM:205100"} xref: UMLS:C1859807 {source="OMIM:205100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005144 {source="DOID:0060194", source="MESH:C565957", source="MONDO:Redundant", source="OMIM:205100", source="indirect"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017593 {source="ORDO:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis +is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis is_a: MONDO:0024237 {source="MONDO:Redundant", source="indirect"} ! inherited neurodegenerative disorder intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/443 ! ALS2 @@ -162574,16 +162543,16 @@ synonym: "Tangier disease" EXACT [MONDO:Lexical, OMIM:205400] synonym: "tgd" RELATED [MONDO:Lexical, OMIM:205400] xref: DOID:1388 {source="MONDO:equivalentTo"} xref: GARD:0007731 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E78.6 {source="DOID:1388", source="ORDO:31150/attributed", source="ORDO:31150/ntbt", source="Orphanet:31150"} -xref: MedDRA:10051875 {source="ORDO:31150/e", source="Orphanet:31150"} -xref: MESH:D013631 {source="DOID:1388", source="MONDO:equivalentTo", source="ORDO:31150/e", source="Orphanet:31150"} +xref: ICD10CM:E78.6 {source="DOID:1388", source="Orphanet:31150/attributed", source="Orphanet:31150/ntbt", source="Orphanet:31150"} +xref: MedDRA:10051875 {source="Orphanet:31150/e", source="Orphanet:31150"} +xref: MESH:D013631 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"} xref: NCIT:C85182 {source="DOID:1388", source="MONDO:equivalentTo"} -xref: OMIM:205400 {source="DOID:1388", source="MONDO:equivalentTo", source="ORDO:31150/e", source="Orphanet:31150"} +xref: OMIM:205400 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"} xref: Orphanet:31150 {source="OMIM:205400", source="MONDO:equivalentTo"} xref: SCTID:15346004 {source="DOID:1388"} xref: SCTID:190783007 {source="DOID:1388"} xref: SCTID:723579009 {source="MONDO:equivalentTo"} -xref: UMLS:C0039292 {source="DOID:1388", source="NCBI:mim2gene_medline", source="NCIT:C85182", source="OMIM:205400", source="MONDO:equivalentTo", source="ORDO:31150/e", source="Orphanet:31150"} +xref: UMLS:C0039292 {source="Orphanet:31150/e", source="DOID:1388", source="NCBI:mim2gene_medline", source="NCIT:C85182", source="OMIM:205400", source="MONDO:equivalentTo", source="Orphanet:31150"} is_a: MONDO:0001822 {source="DOID:1388", source="MESH:D013631/inferred"} ! hypolipoproteinemia is_a: MONDO:0017773 {source="MESH:D013631", source="Orphanet:31150"} ! hypoalphalipoproteinemia is_a: MONDO:0019058 {source="Orphanet:31150"} ! neurometabolic disease @@ -162646,8 +162615,8 @@ synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MOND synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360] synonym: "microcytic anemia and hepatic iron overload" RELATED [GARD:0012360] xref: GARD:0012360 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D50.8 {source="Orphanet:83642", source="ORDO:83642/attributed", source="ORDO:83642/ntbt"} -xref: OMIM:206100 {source="ORDO:83642/e", source="Orphanet:83642", source="MONDO:equivalentTo"} +xref: ICD10CM:D50.8 {source="Orphanet:83642/attributed", source="Orphanet:83642/ntbt", source="Orphanet:83642"} +xref: OMIM:206100 {source="Orphanet:83642", source="MONDO:equivalentTo", source="Orphanet:83642/e"} xref: Orphanet:83642 {source="OMIM:206100", source="MONDO:equivalentTo"} xref: SCTID:711161006 {source="MONDO:equivalentTo"} xref: UMLS:C2673913 {source="Orphanet:83642", source="NCBI:mim2gene_medline"} @@ -162671,9 +162640,9 @@ synonym: "iron-handling disorder, hereditary" RELATED [OMIM:206200] synonym: "iron-refractory iron deficiency anemia" EXACT [MONDO:Lexical, OMIM:206200, Orphanet:209981] synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200] xref: GARD:0010957 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D50.8 {source="ORDO:209981/attributed", source="ORDO:209981/ntbt", source="Orphanet:209981"} +xref: ICD10CM:D50.8 {source="Orphanet:209981", source="Orphanet:209981/attributed", source="Orphanet:209981/ntbt"} xref: MESH:C562385 {source="MONDO:equivalentTo"} -xref: OMIM:206200 {source="MONDO:equivalentTo", source="Orphanet:209981", source="ORDO:209981/e"} +xref: OMIM:206200 {source="MONDO:equivalentTo", source="Orphanet:209981", source="Orphanet:209981/e"} xref: Orphanet:209981 {source="OMIM:206200", source="MONDO:equivalentTo"} xref: SCTID:722005000 {source="MONDO:equivalentTo"} xref: UMLS:C0085576 {source="OMIM:206200", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:209981"} @@ -162712,9 +162681,9 @@ synonym: "anencephaly 1" EXACT [OMIM:206500, OMIM:genemap2] synonym: "ANPH" BROAD ABBREVIATION [OMIM:206500] synonym: "isolated anencephaly/exencephaly" EXACT [Orphanet:1048] xref: GARD:0005808 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q00.0 {source="ORDO:1048/specific", source="Orphanet:1048", source="ORDO:1048/e"} +xref: ICD10CM:Q00.0 {source="Orphanet:1048", source="Orphanet:1048/e", source="Orphanet:1048/specific"} xref: ICD9:740.0 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:206500 {source="Orphanet:1048", source="ORDO:1048/e", source="MONDO:equivalentTo"} +xref: OMIM:206500 {source="Orphanet:1048", source="MONDO:equivalentTo", source="Orphanet:1048/e"} xref: Orphanet:1048 {source="OMIM:206500", source="MONDO:equivalentTo"} xref: SCTID:89369001 {source="MONDO:equivalentTo"} xref: UMLS:C0002902 {source="NCBI:mim2gene_medline", source="OMIM:206500", source="MONDO:notFoundInDiseaseSubset"} @@ -162736,9 +162705,9 @@ def: "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder subset: ordo_disease {source="Orphanet:199279"} synonym: "angiolipoma Microthromboticum" RELATED [OMIM:206550] synonym: "angiolipomatosis, familial" RELATED [OMIM:206550] -xref: ICD10CM:D17.9 {source="Orphanet:199279", source="ORDO:199279/attributed", source="ORDO:199279/ntbt"} +xref: ICD10CM:D17.9 {source="Orphanet:199279/attributed", source="Orphanet:199279/ntbt", source="Orphanet:199279"} xref: MESH:C565951 {source="MONDO:equivalentTo"} -xref: OMIM:206550 {source="Orphanet:199279", source="ORDO:199279/e", source="MONDO:equivalentTo"} +xref: OMIM:206550 {source="Orphanet:199279", source="MONDO:equivalentTo", source="Orphanet:199279/e"} xref: Orphanet:199279 {source="MONDO:equivalentTo", source="OMIM:206550"} xref: UMLS:C1859784 {source="Orphanet:199279", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206550"} is_a: MONDO:0019296 {source="Orphanet:199279"} ! subcutaneous tissue disorder @@ -162784,13 +162753,13 @@ synonym: "Gillespie syndrome" EXACT [OMIM:206700, Orphanet:1065] synonym: "GLSP" RELATED ABBREVIATION [OMIM:206700] xref: DOID:0111578 {source="MONDO:equivalentTo"} xref: GARD:0000013 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.0 {source="Orphanet:1065", source="ORDO:1065/attributed", source="ORDO:1065/ntbt"} +xref: ICD10CM:G11.0 {source="Orphanet:1065", source="Orphanet:1065/attributed", source="Orphanet:1065/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536370 {source="MONDO:equivalentTo"} -xref: OMIM:206700 {source="Orphanet:1065", source="GARD:0000013", source="MONDO:equivalentTo", source="ORDO:1065/e"} +xref: OMIM:206700 {source="Orphanet:1065", source="GARD:0000013", source="MONDO:equivalentTo", source="Orphanet:1065/e"} xref: Orphanet:1065 {source="GARD:0000013", source="MONDO:equivalentTo", source="OMIM:206700"} xref: SCTID:253176002 {source="MONDO:equivalentTo"} -xref: UMLS:C0431401 {source="Orphanet:1065", source="GARD:0000013", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206700", source="ORDO:1065/e"} +xref: UMLS:C0431401 {source="Orphanet:1065", source="GARD:0000013", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:206700", source="Orphanet:1065/e"} is_a: MONDO:0000508 {source="Orphanet:1065"} ! syndromic intellectual disability is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0020148 {source="Orphanet:1065"} ! syndromic aniridia @@ -162808,13 +162777,13 @@ synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor reta synonym: "Sommer Rathbun Battles syndrome" RELATED [GARD:0000690] synonym: "Sommer-Rathbun-Battles syndrome" EXACT [Orphanet:1064] xref: GARD:0000690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1064/attributed", source="ORDO:1064/ntbt", source="Orphanet:1064"} +xref: ICD10CM:Q87.8 {source="Orphanet:1064/attributed", source="Orphanet:1064/ntbt", source="Orphanet:1064"} xref: MESH:C000598722 {source="MONDO:equivalentTo"} -xref: MESH:C536371 {source="Orphanet:1064", source="ORDO:1064/e"} -xref: OMIM:206750 {source="MONDO:equivalentTo", source="Orphanet:1064", source="ORDO:1064/e"} +xref: MESH:C536371 {source="Orphanet:1064/e", source="Orphanet:1064"} +xref: OMIM:206750 {source="Orphanet:1064/e", source="MONDO:equivalentTo", source="Orphanet:1064"} xref: Orphanet:1064 {source="OMIM:206750", source="MONDO:equivalentTo"} xref: SCTID:733116005 {source="MONDO:equivalentTo"} -xref: UMLS:C1859782 {source="OMIM:206750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1064", source="ORDO:1064/e"} +xref: UMLS:C1859782 {source="OMIM:206750", source="Orphanet:1064/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1064"} is_a: MONDO:0000508 {source="Orphanet:1064"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1064"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019721 {source="Orphanet:1064"} ! syndromic renal or urinary tract malformation @@ -162836,11 +162805,11 @@ synonym: "teeth, permanent, absence of" RELATED [OMIM:206780] synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714] xref: DOID:13714 {source="MONDO:equivalentTo"} xref: GARD:0005818 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="ORDO:99797/specific", source="ORDO:99797/e"} +xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e", source="Orphanet:99797/specific"} xref: ICD9:520.0 {source="DOID:13714"} -xref: MedDRA:10002583 {source="Orphanet:99797", source="ORDO:99797/e"} -xref: MESH:D000848 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="ORDO:99797/e"} -xref: OMIM:206780 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="ORDO:99797/e"} +xref: MedDRA:10002583 {source="Orphanet:99797", source="Orphanet:99797/e"} +xref: MESH:D000848 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e"} +xref: OMIM:206780 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e"} xref: Orphanet:99797 {source="MONDO:equivalentTo", source="OMIM:206780"} xref: SCTID:16958000 {source="DOID:13714", source="MONDO:equivalentTo"} xref: SCTID:196265005 {source="DOID:13714"} @@ -162875,9 +162844,9 @@ synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MON synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050643 {source="MONDO:equivalentObsolete"} xref: DOID:0080082 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.3 {source="ORDO:94150/attributed", source="ORDO:94150/ntbt", source="Orphanet:94150"} +xref: ICD10CM:Q84.3 {source="Orphanet:94150/attributed", source="Orphanet:94150/ntbt", source="Orphanet:94150"} xref: MESH:C536377 {source="MONDO:equivalentTo"} -xref: OMIM:206800 {source="DOID:0050643", source="MONDO:equivalentTo", source="ORDO:94150/e", source="DOID:0080082", source="Orphanet:94150"} +xref: OMIM:206800 {source="Orphanet:94150/e", source="DOID:0050643", source="MONDO:equivalentTo", source="DOID:0080082", source="Orphanet:94150"} xref: Orphanet:79143 {source="MONDO:subClassOf", source="OMIM:206800"} xref: Orphanet:94150 {source="MONDO:equivalentTo", source="OMIM:206800"} xref: UMLS:C0265998 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -162911,9 +162880,9 @@ synonym: "SOX2-related eye disorders" RELATED [GARD:0001443] synonym: "syndromic microphthalmia type 3" EXACT [Orphanet:77298] synonym: "syndromic microphthalmia, type 3" RELATED [GARD:0001443] xref: GARD:0001443 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:77298/attributed", source="ORDO:77298/ntbt", source="Orphanet:77298"} +xref: ICD10CM:Q87.8 {source="Orphanet:77298/attributed", source="Orphanet:77298/ntbt", source="Orphanet:77298"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:206900 {source="MONDO:equivalentTo", source="ORDO:77298/e", source="Orphanet:77298"} +xref: OMIM:206900 {source="Orphanet:77298/e", source="MONDO:equivalentTo", source="Orphanet:77298"} xref: Orphanet:77298 {source="MONDO:equivalentTo", source="OMIM:206900"} xref: SCTID:698851003 {source="MONDO:equivalentTo"} xref: UMLS:C1859773 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:206900", source="Orphanet:77298"} @@ -162943,10 +162912,10 @@ synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861] synonym: "Waardenburg anophthalmia syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106] xref: DOID:0060861 {source="MONDO:equivalentTo"} xref: GARD:0000722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="DOID:0060861", source="ORDO:1106/attributed", source="ORDO:1106/ntbt", source="Orphanet:1106"} +xref: ICD10CM:Q87.2 {source="DOID:0060861", source="Orphanet:1106", source="Orphanet:1106/attributed", source="Orphanet:1106/ntbt"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537769 {source="MONDO:equivalentTo"} -xref: OMIM:206920 {source="DOID:0060861", source="MONDO:equivalentTo", source="ORDO:1106/e", source="Orphanet:1106"} +xref: OMIM:206920 {source="DOID:0060861", source="MONDO:equivalentTo", source="Orphanet:1106", source="Orphanet:1106/e"} xref: Orphanet:1106 {source="DOID:0060861", source="MONDO:equivalentTo", source="OMIM:206920"} xref: SCTID:703403003 {source="MONDO:equivalentTo"} xref: UMLS:C0599973 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:206920", source="Orphanet:1106"} @@ -162988,14 +162957,14 @@ synonym: "trapezoidocephaly synostosis syndrome" RELATED [GARD:0005826] synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462, OMIM:207410] xref: DOID:0050462 {source="MONDO:equivalentTo"} xref: GARD:0005826 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:83", source="ORDO:83/attributed", source="ORDO:83/ntbt"} -xref: MESH:C537780 {source="Orphanet:83", source="ORDO:83/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:83/attributed", source="Orphanet:83/ntbt", source="Orphanet:83"} +xref: MESH:C537780 {source="Orphanet:83/e", source="Orphanet:83"} xref: MESH:D054882 {source="DOID:0050462"} xref: OMIM:201750 {source="DOID:0050462", source="MONDO:superClassOf"} -xref: OMIM:207410 {source="DOID:0050462", source="MONDO:superClassOf", source="Orphanet:83", source="ORDO:83/e"} +xref: OMIM:207410 {source="DOID:0050462", source="Orphanet:83/e", source="MONDO:superClassOf", source="Orphanet:83"} xref: Orphanet:83 {source="OMIM:207410", source="MONDO:equivalentTo"} xref: SCTID:62964007 {source="DOID:0050462", source="MONDO:equivalentTo"} -xref: UMLS:C0265307 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83", source="ORDO:83/e"} +xref: UMLS:C0265307 {source="Orphanet:83/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83"} xref: UMLS:C1860042 {source="DOID:0050462", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2350233 {source="DOID:0050462", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2936791 {source="OMIM:207410", source="DOID:0050462", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83"} @@ -163028,12 +162997,12 @@ synonym: "APHALANGY with hemivertebrae" RELATED [OMIM:207620] synonym: "Johnson Munson syndrome" RELATED [GARD:0003051] synonym: "Johnson-Munson syndrome" EXACT [Orphanet:1112] xref: GARD:0003051 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1112", source="ORDO:1112/attributed", source="ORDO:1112/ntbt"} -xref: MESH:C535881 {source="Orphanet:1112", source="ORDO:1112/e", source="MONDO:equivalentTo"} -xref: OMIM:207620 {source="Orphanet:1112", source="ORDO:1112/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:1112", source="Orphanet:1112/attributed", source="Orphanet:1112/ntbt"} +xref: MESH:C535881 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"} +xref: OMIM:207620 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"} xref: Orphanet:1112 {source="OMIM:207620", source="MONDO:equivalentTo"} xref: SCTID:733118006 {source="MONDO:equivalentTo"} -xref: UMLS:C1859754 {source="Orphanet:1112", source="OMIM:207620", source="ORDO:1112/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1859754 {source="Orphanet:1112", source="OMIM:207620", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1112/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -163061,11 +163030,11 @@ synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [OMI synonym: "autosomal recessive aplasia cutis" EXACT [Orphanet:1116] synonym: "Bronspiegel-Zelnick syndrome" EXACT [Orphanet:1116] xref: GARD:0000753 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C537788 {source="MONDO:equivalentTo", source="Orphanet:1116", source="ORDO:1116/e"} -xref: OMIM:207731 {source="MONDO:equivalentTo", source="Orphanet:1116", source="ORDO:1116/e"} +xref: MESH:C537788 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"} +xref: OMIM:207731 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"} xref: Orphanet:1116 {source="OMIM:207731", source="MONDO:equivalentTo"} xref: SCTID:720500008 {source="MONDO:equivalentTo"} -xref: UMLS:C1859753 {source="OMIM:207731", source="NCBI:mim2gene_medline", source="Orphanet:1116", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1116/e"} +xref: UMLS:C1859753 {source="OMIM:207731", source="NCBI:mim2gene_medline", source="Orphanet:1116", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1116/e"} is_a: MONDO:0005020 {source="Orphanet:1116"} ! intestinal disorder is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019294 {source="Orphanet:1116"} ! mixed dermis disorder @@ -163086,9 +163055,9 @@ synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589] synonym: "Hamanishi-Ueba-Tsuji syndrome" EXACT [MONDO:0023303, Orphanet:2926] synonym: "polyneuropathy, hand defect" RELATED [GARD:0002589] xref: GARD:0002589 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2926", source="ORDO:2926/attributed", source="ORDO:2926/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2926/attributed", source="Orphanet:2926/ntbt", source="Orphanet:2926"} xref: MESH:C535624 {source="MONDO:equivalentTo"} -xref: OMIM:207740 {source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926", source="ORDO:2926/e"} +xref: OMIM:207740 {source="Orphanet:2926/e", source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926"} xref: Orphanet:2926 {source="OMIM:207740", source="GARD:0002589", source="MONDO:equivalentTo"} xref: UMLS:C1859752 {source="OMIM:207740", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2930955 {source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926"} @@ -163109,12 +163078,12 @@ synonym: "familial apolipoprotein C-II deficiency" EXACT CLINGEN_PREFERRED [] synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750] synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432] xref: DOID:0111418 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.3 {source="Orphanet:309020", source="ORDO:309020/attributed", source="ORDO:309020/ntbt"} -xref: OMIM:207750 {source="ORDO:309020/e", source="Orphanet:309020", source="MONDO:equivalentTo"} +xref: ICD10CM:E78.3 {source="Orphanet:309020/attributed", source="Orphanet:309020/ntbt", source="Orphanet:309020"} +xref: OMIM:207750 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"} xref: Orphanet:309020 {source="OMIM:207750", source="MONDO:equivalentTo"} xref: Orphanet:411 {source="OMIM:207750"} xref: SCTID:33513003 {source="MONDO:equivalentTo"} -xref: UMLS:C0268199 {source="ORDO:309020/e", source="Orphanet:309020", source="MONDO:equivalentTo"} +xref: UMLS:C0268199 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"} xref: UMLS:C1720779 {source="OMIM:207750", source="NCBI:mim2gene_medline", source="Orphanet:309020", source="MONDO:equivalentTo"} is_a: MONDO:0001336 {source="DC-OMIM:207750", source="indirect"} ! familial hyperlipidemia is_a: MONDO:0018637 {source="Orphanet:309020"} ! familial chylomicronemia syndrome @@ -163136,13 +163105,13 @@ synonym: "Xk syndrome" RELATED [OMIM:207770] synonym: "XK-aprosencephaly" EXACT [Orphanet:3469] synonym: "XK-aprosencephaly syndrome" RELATED [GARD:0000424] xref: GARD:0000424 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:3469/ntbt", source="Orphanet:3469"} -xref: MESH:C536767 {source="ORDO:3469/e", source="MONDO:equivalentTo", source="Orphanet:3469"} -xref: OMIM:207770 {source="ORDO:3469/e", source="MONDO:equivalentTo", source="Orphanet:3469"} +xref: ICD10CM:Q04.3 {source="Orphanet:3469", source="Orphanet:3469/ntbt"} +xref: MESH:C536767 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"} +xref: OMIM:207770 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"} xref: Orphanet:3469 {source="MONDO:equivalentTo", source="OMIM:207770"} xref: SCTID:277921008 {source="MONDO:equivalentTo"} -xref: UMLS:C0431348 {source="ORDO:3469/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3469"} -xref: UMLS:C0795952 {source="ORDO:3469/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3469", source="OMIM:207770"} +xref: UMLS:C0431348 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3469", source="Orphanet:3469/e"} +xref: UMLS:C0795952 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e", source="OMIM:207770"} is_a: MONDO:0016054 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebral malformation property_value: confidence "9.0" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly xsd:anyURI {source="GARD:0000424"} @@ -163157,13 +163126,13 @@ synonym: "acrorenal defect-ectodermal dysplasia-diabetes syndrome" EXACT [Orphan synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [OMIM:207780] synonym: "AREDYLD" RELATED ABBREVIATION [OMIM:207780] xref: GARD:0008509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1133", source="ORDO:1133/attributed", source="ORDO:1133/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1133/attributed", source="Orphanet:1133/ntbt", source="Orphanet:1133"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537427 {source="ORDO:1133/e", source="Orphanet:1133", source="MONDO:equivalentTo"} -xref: OMIM:207780 {source="ORDO:1133/e", source="Orphanet:1133", source="MONDO:equivalentTo"} +xref: MESH:C537427 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} +xref: OMIM:207780 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} xref: Orphanet:1133 {source="MONDO:equivalentTo", source="OMIM:207780"} xref: SCTID:237610008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342280 {source="ORDO:1133/e", source="Orphanet:1133", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207780"} +xref: UMLS:C0342280 {source="Orphanet:1133", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1133/e", source="OMIM:207780"} is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1133"} ! diabetes mellitus is_a: MONDO:0019287 {source="MESH:C537427", source="Orphanet:1133"} ! ectodermal dysplasia syndrome is_a: MONDO:0019721 {source="Orphanet:1133"} ! syndromic renal or urinary tract malformation @@ -163178,14 +163147,14 @@ subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:2356"} synonym: "arachnoid cysts" RELATED [GARD:0000017] xref: GARD:0000017 {source="MONDO:equivalentTo"} -xref: ICD10CM:G93.0 {source="Orphanet:2356", source="ORDO:2356/ntbt", source="ORDO:2356/inclusion"} -xref: MedDRA:10049005 {source="ORDO:2356/e", source="Orphanet:2356"} -xref: MESH:D016080 {source="ORDO:2356/e", source="Orphanet:2356", source="MONDO:equivalentTo"} +xref: ICD10CM:G93.0 {source="Orphanet:2356/inclusion", source="Orphanet:2356/ntbt", source="Orphanet:2356"} +xref: MedDRA:10049005 {source="Orphanet:2356", source="Orphanet:2356/e"} +xref: MESH:D016080 {source="Orphanet:2356", source="MONDO:equivalentTo", source="Orphanet:2356/e"} xref: NCIT:C3455 {source="MONDO:equivalentTo"} -xref: OMIM:182990 {source="Orphanet:2356", source="MONDO:superClassOf", source="ORDO:2356/btnt"} +xref: OMIM:182990 {source="Orphanet:2356/btnt", source="Orphanet:2356", source="MONDO:superClassOf"} xref: Orphanet:2356 {source="GARD:0000017", source="MONDO:equivalentTo", source="OMIM:207790"} xref: SCTID:33595009 {source="MONDO:equivalentTo"} -xref: UMLS:C0078981 {source="ORDO:2356/e", source="Orphanet:2356", source="MONDO:equivalentTo"} +xref: UMLS:C0078981 {source="Orphanet:2356", source="MONDO:equivalentTo", source="Orphanet:2356/e"} is_a: MONDO:0017104 {source="Orphanet:2356"} ! central nervous system cystic malformation relationship: disease_has_feature MONDO:0019834 {source="Orphanet:2356"} ! pituitary hormone deficiency from meningeal origin relationship: excluded_subClassOf MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:2356", source="Orphanet:2356/inferred"} ! obsolete rare genetic developmental defect during embryogenesis @@ -163204,16 +163173,16 @@ synonym: "deficiency of canavanase" EXACT [DOID:9278] synonym: "hyperargininemia" EXACT CLINGEN_PREFERRED [OMIM:207800, Orphanet:90] xref: DOID:9278 {source="MONDO:equivalentTo"} xref: GARD:0005840 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.2 {source="ORDO:90/attributed", source="ORDO:90/ntbt", source="Orphanet:90"} +xref: ICD10CM:E72.2 {source="Orphanet:90", source="Orphanet:90/attributed", source="Orphanet:90/ntbt"} xref: ICD10CM:E72.21 {source="DOID:9278"} -xref: MedDRA:10062695 {source="Orphanet:90", source="ORDO:90/e"} -xref: MESH:D020162 {source="MONDO:equivalentTo", source="Orphanet:90", source="ORDO:90/e", source="DOID:9278"} +xref: MedDRA:10062695 {source="Orphanet:90", source="Orphanet:90/e"} +xref: MESH:D020162 {source="MONDO:equivalentTo", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"} xref: NCIT:C84568 {source="MONDO:equivalentTo", source="DOID:9278"} -xref: OMIM:207800 {source="MONDO:equivalentTo", source="Orphanet:90", source="ORDO:90/e", source="DOID:9278"} +xref: OMIM:207800 {source="MONDO:equivalentTo", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"} xref: Orphanet:90 {source="MONDO:equivalentTo", source="OMIM:207800"} xref: SCTID:124518006 {source="DOID:9278"} xref: SCTID:23501004 {source="MONDO:equivalentTo", source="DOID:9278"} -xref: UMLS:C0268548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207800", source="Orphanet:90", source="ORDO:90/e", source="DOID:9278"} +xref: UMLS:C0268548 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207800", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"} is_a: MONDO:0004739 {source="Orphanet:90"} ! urea cycle disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/663 {source="mim2gene_medgen"} ! ARG1 property_value: confidence "4.277777777777778" xsd:double @@ -163241,15 +163210,15 @@ synonym: "inborn error of urea synthesis, arginino succinic type" RELATED [GARD: synonym: "urea cycle disorder, arginino succinase type" RELATED [GARD:0005843] xref: DOID:14755 {source="MONDO:equivalentTo"} xref: GARD:0005843 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.2 {source="Orphanet:23", source="ORDO:23/inclusion", source="ORDO:23/ntbt"} -xref: MedDRA:10058299 {source="Orphanet:23", source="ORDO:23/e"} -xref: MESH:D056807 {source="Orphanet:23", source="ORDO:23/e", source="MONDO:equivalentTo", source="DOID:14755"} +xref: ICD10CM:E72.2 {source="Orphanet:23/inclusion", source="Orphanet:23", source="Orphanet:23/ntbt"} +xref: MedDRA:10058299 {source="Orphanet:23", source="Orphanet:23/e"} +xref: MESH:D056807 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"} xref: NCIT:C84569 {source="MONDO:equivalentTo", source="DOID:14755"} -xref: OMIM:207900 {source="Orphanet:23", source="ORDO:23/e", source="MONDO:equivalentTo", source="DOID:14755"} +xref: OMIM:207900 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"} xref: Orphanet:23 {source="MONDO:equivalentTo", source="OMIM:207900"} xref: SCTID:124630007 {source="DOID:14755"} xref: SCTID:41013004 {source="MONDO:equivalentTo", source="DOID:14755"} -xref: UMLS:C0268547 {source="Orphanet:23", source="NCIT:C84569", source="ORDO:23/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207900", source="DOID:14755"} +xref: UMLS:C0268547 {source="Orphanet:23", source="NCIT:C84569", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:207900", source="Orphanet:23/e", source="DOID:14755"} is_a: MONDO:0004739 {source="Orphanet:23"} ! urea cycle disorder is_a: MONDO:0037871 {source="DOID:14755", source="https://github.com/monarch-initiative/mondo/issues/1492"} ! amino acid metabolism disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/746 {source="mim2gene_medgen"} ! ASL @@ -163270,14 +163239,14 @@ synonym: "Chiari malformation type II" EXACT [OMIM:207950, Orphanet:1136] synonym: "Chiari type II malformation" RELATED [GARD:0009232] synonym: "Cm2" RELATED [OMIM:207950] xref: GARD:0009232 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q07.0 {source="ORDO:1136/specific", source="Orphanet:1136", source="ORDO:1136/e"} -xref: MedDRA:10056945 {source="Orphanet:1136", source="ORDO:1136/e"} -xref: OMIM:207950 {source="Orphanet:1136", source="ORDO:1136/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q07.0 {source="Orphanet:1136", source="Orphanet:1136/e", source="Orphanet:1136/specific"} +xref: MedDRA:10056945 {source="Orphanet:1136", source="Orphanet:1136/e"} +xref: OMIM:207950 {source="Orphanet:1136", source="MONDO:equivalentTo", source="Orphanet:1136/e"} xref: Orphanet:1136 {source="OMIM:207950", source="MONDO:equivalentTo"} xref: SCTID:373587001 {source="MONDO:equivalentTo"} xref: UMLS:C0003803 {source="Orphanet:1136", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0555206 {source="OMIM:207950", source="Orphanet:1136", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0750930 {source="Orphanet:1136", source="ORDO:1136/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0750930 {source="Orphanet:1136", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1136/e"} is_a: MONDO:0000115 {source="DC-OMIM:207950", source="linkedlifedata"} ! Chiari malformation is_a: MONDO:0017069 {source="Orphanet:1136"} ! spina bifida cystica property_value: confidence "25.875" xsd:double @@ -163318,10 +163287,10 @@ synonym: "arterial tortuosity syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208050, Orphanet:3342] xref: DOID:0050645 {source="MONDO:equivalentTo"} xref: GARD:0000774 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I77.1 {source="Orphanet:3342", source="ORDO:3342/attributed", source="ORDO:3342/ntbt"} +xref: ICD10CM:I77.1 {source="Orphanet:3342", source="Orphanet:3342/attributed", source="Orphanet:3342/ntbt"} xref: ICD10CM:Q87.82 {source="MONDO:equivalentTo"} xref: MESH:C565942 {source="MONDO:equivalentTo"} -xref: OMIM:208050 {source="Orphanet:3342", source="DOID:0050645", source="MONDO:equivalentTo", source="ORDO:3342/e"} +xref: OMIM:208050 {source="Orphanet:3342", source="DOID:0050645", source="MONDO:equivalentTo", source="Orphanet:3342/e"} xref: Orphanet:3342 {source="MONDO:equivalentTo", source="OMIM:208050"} xref: SCTID:458432002 {source="MONDO:equivalentTo"} xref: UMLS:C1859726 {source="Orphanet:3342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208050"} @@ -163373,7 +163342,7 @@ xref: DOID:0111353 {source="MONDO:equivalentTo"} xref: OMIM:208085 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="MONDO:subClassOf", source="OMIM:208085"} xref: UMLS:C1859722 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:208085"} -is_a: MONDO:0017123 {source="DC-OMIM:208085", source="MONDO:Redundant", source="OMIM:208085", source="ORDO:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome +is_a: MONDO:0017123 {source="DC-OMIM:208085", source="MONDO:Redundant", source="OMIM:208085", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12712 ! VPS33B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12712 {source="mim2gene_medgen"} ! VPS33B @@ -163393,13 +163362,13 @@ synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [Orphanet:1143] synonym: "neurogenic type of AMC" RELATED [GARD:0000790] xref: DOID:0090124 {source="MONDO:equivalentTo"} xref: GARD:0000790 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q74.3 {source="Orphanet:1143", source="DOID:0090124", source="ORDO:1143/attributed", source="ORDO:1143/ntbt"} -xref: MESH:C536614 {source="Orphanet:1143", source="ORDO:1143/e", source="DOID:0090124", source="MONDO:equivalentTo"} -xref: OMIM:208100 {source="Orphanet:1143", source="ORDO:1143/e", source="DOID:0090124", source="MONDO:equivalentTo"} +xref: ICD10CM:Q74.3 {source="Orphanet:1143", source="Orphanet:1143/attributed", source="Orphanet:1143/ntbt", source="DOID:0090124"} +xref: MESH:C536614 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"} +xref: OMIM:208100 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"} xref: OMIM:617468 {source="Orphanet:1143", source="MONDO:directSiblingOf"} xref: Orphanet:1143 {source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"} xref: SCTID:715316005 {source="MONDO:equivalentTo"} -xref: UMLS:C1859721 {source="Orphanet:1143", source="ORDO:1143/e", source="NCBI:mim2gene_medline", source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"} +xref: UMLS:C1859721 {source="Orphanet:1143", source="NCBI:mim2gene_medline", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e", source="OMIM:208100"} is_a: MONDO:0015168 {source="Orphanet:1143"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29205 ! ERGIC1 @@ -163418,11 +163387,11 @@ synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, OMIM:208150 synonym: "fetal akinesia sequence" RELATED [OMIM:208150] xref: DOID:0111375 {source="MONDO:equivalentTo"} xref: GARD:0009634 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:994", source="ORDO:994/attributed", source="ORDO:994/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:994", source="Orphanet:994/attributed", source="Orphanet:994/ntbt"} xref: ICD9:754.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536647 {source="MONDO:equivalentTo"} xref: NCIT:C129071 {source="MONDO:equivalentTo"} -xref: OMIM:300073 {source="Orphanet:994", source="MONDO:superClassOf", source="ORDO:994/btnt"} +xref: OMIM:300073 {source="Orphanet:994", source="Orphanet:994/btnt", source="MONDO:superClassOf"} xref: OMIMPS:208150 {source="MONDO:equivalentTo"} xref: SCTID:401138005 {source="MONDO:equivalentTo"} xref: UMLS:C1276035 {source="Orphanet:994", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:208150", source="NCIT:C129071"} @@ -163449,12 +163418,12 @@ synonym: "ILLUM syndrome" RELATED [OMIM:208155] synonym: "Illum syndrome" EXACT [Orphanet:1150] synonym: "lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" RELATED [GARD:0000792] xref: GARD:0000792 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1150", source="ORDO:1150/attributed", source="ORDO:1150/ntbt"} -xref: MESH:C538401 {source="MONDO:equivalentTo", source="Orphanet:1150", source="ORDO:1150/e"} -xref: OMIM:208155 {source="MONDO:equivalentTo", source="Orphanet:1150", source="ORDO:1150/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1150/attributed", source="Orphanet:1150/ntbt", source="Orphanet:1150"} +xref: MESH:C538401 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"} +xref: OMIM:208155 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"} xref: Orphanet:1150 {source="MONDO:equivalentTo", source="OMIM:208155"} xref: SCTID:720514008 {source="MONDO:equivalentTo"} -xref: UMLS:C1859711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1150", source="ORDO:1150/e", source="OMIM:208155"} +xref: UMLS:C1859711 {source="Orphanet:1150/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1150", source="OMIM:208155"} is_a: MONDO:0015168 {source="Orphanet:1150"} ! arthrogryposis multiplex congenita relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1150"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: confidence "7.125" xsd:double @@ -163470,7 +163439,7 @@ synonym: "Johnston-Aarons-Schelley syndrome" EXACT [Orphanet:1485] synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" RELATED [GARD:0003053] xref: GARD:0003053 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535883 {source="MONDO:equivalentTo"} -xref: OMIM:208158 {source="ORDO:1485/e", source="Orphanet:1485", source="MONDO:equivalentTo"} +xref: OMIM:208158 {source="Orphanet:1485", source="MONDO:equivalentTo", source="Orphanet:1485/e"} xref: Orphanet:1485 {source="OMIM:208158", source="MONDO:equivalentTo"} xref: SCTID:726620005 {source="MONDO:equivalentTo"} xref: UMLS:C1859710 {source="OMIM:208158", source="Orphanet:1485", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -163494,10 +163463,10 @@ synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELAT synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [DOID:0090004, Orphanet:1159] xref: DOID:0090004 {source="MONDO:equivalentTo"} xref: GARD:0009184 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:1159/attributed", source="ORDO:1159/ntbt", source="Orphanet:1159", source="DOID:0090004"} +xref: ICD10CM:Q77.7 {source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/attributed", source="Orphanet:1159/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535387 {source="ORDO:1159/e", source="MONDO:equivalentTo", source="Orphanet:1159"} -xref: OMIM:208230 {source="ORDO:1159/e", source="MONDO:equivalentTo", source="Orphanet:1159", source="DOID:0090004"} +xref: MESH:C535387 {source="MONDO:equivalentTo", source="Orphanet:1159", source="Orphanet:1159/e"} +xref: OMIM:208230 {source="MONDO:equivalentTo", source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/e"} xref: Orphanet:1159 {source="MONDO:equivalentTo", source="DOID:0090004", source="OMIM:208230"} xref: SCTID:254065005 {source="MONDO:equivalentTo"} xref: UMLS:C0432215 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1159", source="OMIM:208230"} @@ -163535,9 +163504,9 @@ xref: DOID:0090127 {source="MONDO:equivalentTo"} xref: EFO:0009028 {source="MONDO:equivalentTo"} xref: GARD:0000306 {source="MONDO:equivalentTo"} xref: MESH:C537560 {source="MONDO:equivalentTo"} -xref: OMIM:208250 {source="MONDO:equivalentTo", source="ORDO:2848/e", source="DOID:0090127", source="GARD:0000306", source="Orphanet:2848"} +xref: OMIM:208250 {source="Orphanet:2848/e", source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="Orphanet:2848"} xref: Orphanet:2848 {source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250"} -xref: UMLS:C1859690 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2848/e", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250", source="Orphanet:2848"} +xref: UMLS:C1859690 {source="Orphanet:2848/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250", source="Orphanet:2848"} is_a: MONDO:0000001 {source="MONDO:Redundant"} ! disease or disorder is_a: MONDO:0005554 {source="Orphanet:2848"} ! rheumatic disorder is_a: MONDO:0006025 {source="DOID:0090127", source="MONDO:Redundant"} ! autosomal recessive disease @@ -163556,15 +163525,15 @@ subset: ordo_disease {source="Orphanet:1160"} synonym: "ascites, chylous" RELATED [OMIM:208300] synonym: "congenital chylous ascites" RELATED [GARD:0001359] xref: GARD:0001359 {source="MONDO:equivalentTo"} -xref: ICD10CM:I89.8 {source="ORDO:1160/ntbt", source="Orphanet:1160"} +xref: ICD10CM:I89.8 {source="Orphanet:1160/ntbt", source="Orphanet:1160"} xref: ICD9:457.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10003446 {source="ORDO:1160/e", source="Orphanet:1160"} -xref: MESH:D002915 {source="MONDO:equivalentTo", source="ORDO:1160/e", source="Orphanet:1160"} +xref: MedDRA:10003446 {source="Orphanet:1160/e", source="Orphanet:1160"} +xref: MESH:D002915 {source="Orphanet:1160/e", source="MONDO:equivalentTo", source="Orphanet:1160"} xref: NCIT:C34482 {source="MONDO:equivalentTo"} -xref: OMIM:208300 {source="MONDO:equivalentTo", source="ORDO:1160/e", source="Orphanet:1160"} +xref: OMIM:208300 {source="Orphanet:1160/e", source="MONDO:equivalentTo", source="Orphanet:1160"} xref: Orphanet:1160 {source="OMIM:208300", source="MONDO:equivalentTo"} xref: SCTID:52985009 {source="MONDO:equivalentTo"} -xref: UMLS:C0008732 {source="OMIM:208300", source="NCIT:C34482", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1160/e", source="Orphanet:1160"} +xref: UMLS:C0008732 {source="OMIM:208300", source="NCIT:C34482", source="Orphanet:1160/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1160"} is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare property_value: confidence "3.7222222222222223" xsd:double @@ -163585,16 +163554,16 @@ synonym: "Glycoasparaginase" RELATED [OMIM:208400] synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400] xref: DOID:0050461 {source="MONDO:equivalentTo"} xref: GARD:0005854 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.1 {source="ORDO:93/attributed", source="ORDO:93/ntbt", source="Orphanet:93", source="DOID:0050461"} -xref: MedDRA:10068220 {source="ORDO:93/e", source="Orphanet:93"} -xref: MESH:C538402 {source="ORDO:93/e", source="Orphanet:93"} -xref: MESH:D054880 {source="MONDO:equivalentTo", source="ORDO:93/e", source="Orphanet:93", source="DOID:0050461"} +xref: ICD10CM:E77.1 {source="Orphanet:93/attributed", source="Orphanet:93/ntbt", source="Orphanet:93", source="DOID:0050461"} +xref: MedDRA:10068220 {source="Orphanet:93/e", source="Orphanet:93"} +xref: MESH:C538402 {source="Orphanet:93/e", source="Orphanet:93"} +xref: MESH:D054880 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"} xref: NCIT:C61273 {source="MONDO:equivalentTo", source="DOID:0050461"} -xref: OMIM:208400 {source="MONDO:equivalentTo", source="ORDO:93/e", source="Orphanet:93", source="DOID:0050461"} +xref: OMIM:208400 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"} xref: Orphanet:93 {source="OMIM:208400", source="MONDO:equivalentTo"} xref: SCTID:54954004 {source="MONDO:equivalentTo", source="DOID:0050461"} -xref: UMLS:C0268225 {source="OMIM:208400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61273", source="ORDO:93/e", source="Orphanet:93", source="DOID:0050461"} -xref: UMLS:C2931840 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:93/e", source="Orphanet:93"} +xref: UMLS:C0268225 {source="OMIM:208400", source="Orphanet:93/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61273", source="Orphanet:93", source="DOID:0050461"} +xref: UMLS:C2931840 {source="Orphanet:93/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93"} is_a: MONDO:0002561 {source="DOID:0050461", source="MESH:D054880", source="MONDO:Redundant", source="NCIT:C61273", source="Orphanet:93/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019058 {source="Orphanet:93"} ! neurometabolic disease @@ -163646,9 +163615,9 @@ synonym: "Vah, autosomal recessive" RELATED [OMIM:208530] xref: DOID:0060856 {source="MONDO:equivalentTo"} xref: GARD:0006795 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0011536 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q20.6 {source="ORDO:97548/attributed", source="ORDO:97548/ntbt", source="Orphanet:97548", source="DOID:0060856"} -xref: MedDRA:10068335 {source="ORDO:97548/e", source="Orphanet:97548"} -xref: OMIM:208530 {source="ORDO:97548/e", source="MONDO:equivalentTo", source="Orphanet:97548", source="DOID:0060856"} +xref: ICD10CM:Q20.6 {source="Orphanet:97548", source="DOID:0060856", source="Orphanet:97548/attributed", source="Orphanet:97548/ntbt"} +xref: MedDRA:10068335 {source="Orphanet:97548", source="Orphanet:97548/e"} +xref: OMIM:208530 {source="MONDO:equivalentTo", source="Orphanet:97548", source="DOID:0060856", source="Orphanet:97548/e"} xref: Orphanet:97548 {source="MONDO:equivalentTo", source="DOID:0060856", source="OMIM:208530"} xref: UMLS:C0175707 {source="NCBI:mim2gene_medline", source="Orphanet:97548", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0265357 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:208530"} @@ -163739,9 +163708,9 @@ synonym: "familial ataxia, deafness, and developmental delay" RELATED [GARD:0004 synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644] synonym: "Reardon-Baraitser syndrome" EXACT [Orphanet:1188] xref: GARD:0004644 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:1188", source="ORDO:1188/attributed", source="ORDO:1188/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:1188/attributed", source="Orphanet:1188/ntbt", source="Orphanet:1188"} xref: MESH:C535295 {source="MONDO:equivalentTo"} -xref: OMIM:208850 {source="ORDO:1188/e", source="Orphanet:1188", source="MONDO:equivalentTo"} +xref: OMIM:208850 {source="Orphanet:1188", source="MONDO:equivalentTo", source="Orphanet:1188/e"} xref: Orphanet:1188 {source="OMIM:208850", source="MONDO:equivalentTo"} xref: SCTID:720517001 {source="MONDO:equivalentTo"} xref: UMLS:C0796045 {source="OMIM:208850", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -163783,16 +163752,16 @@ synonym: "Louis Bar syndrome" EXACT [DOID:12704] synonym: "Louis-Bar syndrome" EXACT [NCIT:C2887, OMIM:208900, Orphanet:100] xref: DOID:12704 {source="MONDO:equivalentTo"} xref: GARD:0005862 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.3 {source="ORDO:100/inclusion", source="ORDO:100/ntbt", source="Orphanet:100"} +xref: ICD10CM:G11.3 {source="Orphanet:100/ntbt", source="Orphanet:100/inclusion", source="Orphanet:100"} xref: ICD9:334.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10003594 {source="ORDO:100/e", source="Orphanet:100"} -xref: MESH:D001260 {source="DOID:12704", source="MONDO:equivalentTo", source="ORDO:100/e", source="Orphanet:100"} +xref: MedDRA:10003594 {source="Orphanet:100/e", source="Orphanet:100"} +xref: MESH:D001260 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="Orphanet:100"} xref: NCIT:C2887 {source="DOID:12704", source="MONDO:equivalentTo"} -xref: OMIM:208900 {source="DOID:12704", source="MONDO:equivalentTo", source="ORDO:100/e", source="Orphanet:100"} -xref: OMIM:208910 {source="ORDO:100/btnt", source="MONDO:superClassOf", source="Orphanet:100"} +xref: OMIM:208900 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="Orphanet:100"} +xref: OMIM:208910 {source="MONDO:superClassOf", source="Orphanet:100/btnt", source="Orphanet:100"} xref: Orphanet:100 {source="MONDO:equivalentTo", source="OMIM:208900"} xref: SCTID:68504005 {source="DOID:12704", source="MONDO:equivalentTo"} -xref: UMLS:C0004135 {source="DOID:12704", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208900", source="ORDO:100/e", source="NCIT:C2887", source="Orphanet:100"} +xref: UMLS:C0004135 {source="Orphanet:100/e", source="DOID:12704", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:208900", source="NCIT:C2887", source="Orphanet:100"} xref: UMLS:C0919524 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:208900"} xref: UMLS:C1859616 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:208900"} xref: UMLS:C1876175 {source="MONDO:relatedTo", source="OMIM:208900"} @@ -163815,7 +163784,7 @@ xref: MESH:C565930 {source="MONDO:equivalentTo"} xref: OMIM:208910 {source="MONDO:equivalentTo"} xref: Orphanet:100 {source="MONDO:subClassOf", source="OMIM:208910"} xref: UMLS:C1859615 {source="OMIM:208910", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008840 {source="MESH:C565930", source="ORDO:100/btnt"} ! ataxia telangiectasia +is_a: MONDO:0008840 {source="MESH:C565930", source="Orphanet:100/btnt"} ! ataxia telangiectasia property_value: confidence "0.0" xsd:double [Term] @@ -163841,9 +163810,9 @@ synonym: "EOCA-HA" RELATED [GARD:0009283] synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" EXACT [MONDO:design_pattern] xref: DOID:0050754 {source="MONDO:equivalentTo"} xref: GARD:0009283 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.3 {source="Orphanet:1168", source="ORDO:1168/attributed", source="ORDO:1168/ntbt"} +xref: ICD10CM:G11.3 {source="Orphanet:1168/attributed", source="Orphanet:1168/ntbt", source="Orphanet:1168"} xref: MESH:C538013 {source="MONDO:equivalentTo"} -xref: OMIM:208920 {source="ORDO:1168/e", source="Orphanet:1168", source="MONDO:equivalentTo", source="DOID:0050754"} +xref: OMIM:208920 {source="Orphanet:1168", source="MONDO:equivalentTo", source="DOID:0050754", source="Orphanet:1168/e"} xref: Orphanet:1168 {source="OMIM:208920", source="MONDO:equivalentTo"} xref: UMLS:C1859598 {source="NCBI:mim2gene_medline", source="OMIM:208920", source="Orphanet:1168", source="MONDO:equivalentTo"} is_a: MONDO:0011457 ! ataxia-telangiectasia-like disorder @@ -163862,7 +163831,7 @@ synonym: "Feigenbaum-Bergeron-Richardson syndrome" EXACT [Orphanet:1192] synonym: "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" RELATED [GARD:0002279] xref: GARD:0002279 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C565928 {source="MONDO:equivalentTo"} -xref: OMIM:209010 {source="MONDO:equivalentTo", source="Orphanet:1192", source="ORDO:1192/e"} +xref: OMIM:209010 {source="Orphanet:1192/e", source="MONDO:equivalentTo", source="Orphanet:1192"} xref: Orphanet:1192 {source="MONDO:equivalentTo", source="OMIM:209010"} xref: SCTID:720519003 {source="MONDO:equivalentTo"} xref: UMLS:C1859596 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:209010"} @@ -163905,14 +163874,14 @@ synonym: "hypotransferrinemia, familial" RELATED [OMIM:209300] synonym: "transferrin serum level quantitative trait locus 1" RELATED [OMIM:209300] xref: DOID:0050649 {source="MONDO:equivalentTo"} xref: GARD:0009595 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.0 {source="ORDO:1195/index", source="ORDO:1195/e", source="Orphanet:1195"} -xref: MESH:C538259 {source="MONDO:equivalentTo", source="ORDO:1195/e", source="Orphanet:1195"} +xref: ICD10CM:E88.0 {source="Orphanet:1195/index", source="Orphanet:1195/e", source="Orphanet:1195"} +xref: MESH:C538259 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="Orphanet:1195"} xref: NCIT:C125693 {source="MONDO:equivalentTo"} -xref: OMIM:209300 {source="MONDO:equivalentTo", source="DOID:0050649", source="ORDO:1195/e", source="Orphanet:1195"} +xref: OMIM:209300 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="DOID:0050649", source="Orphanet:1195"} xref: Orphanet:1195 {source="MONDO:equivalentTo", source="OMIM:209300"} xref: SCTID:111571009 {source="MONDO:equivalentTo"} -xref: UMLS:C0521802 {source="NCIT:C125693", source="MONDO:equivalentTo", source="ORDO:1195/e", source="OMIM:209300", source="Orphanet:1195"} -xref: UMLS:C1859593 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1195/e", source="Orphanet:1195"} +xref: UMLS:C0521802 {source="NCIT:C125693", source="Orphanet:1195/e", source="MONDO:equivalentTo", source="OMIM:209300", source="Orphanet:1195"} +xref: UMLS:C1859593 {source="NCBI:mim2gene_medline", source="Orphanet:1195/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1195"} xref: UMLS:C3277918 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:209300"} is_a: MONDO:0004689 {source="DOID:0050649", source="MESH:C538259"} ! inborn metal metabolism disorder is_a: MONDO:0016624 ! inherited deficiency anemia @@ -163931,9 +163900,9 @@ synonym: "APL" RELATED ABBREVIATION [DOID:0060689, MONDO:Lexical, OMIM:209500] synonym: "atrichia with papular lesions" EXACT [MONDO:Lexical, OMIM:209500] synonym: "papular atrichia" EXACT [DOID:0060689, OMIM:209500, Orphanet:86819] xref: DOID:0060689 {source="MONDO:equivalentTo"} -xref: ICD10CM:L65.8 {source="ORDO:86819/attributed", source="ORDO:86819/ntbt", source="DOID:0060689", source="Orphanet:86819"} +xref: ICD10CM:L65.8 {source="Orphanet:86819/attributed", source="Orphanet:86819/ntbt", source="DOID:0060689", source="Orphanet:86819"} xref: MESH:C565924 {source="MONDO:equivalentTo"} -xref: OMIM:209500 {source="MONDO:equivalentTo", source="DOID:0060689", source="ORDO:86819/e", source="Orphanet:86819"} +xref: OMIM:209500 {source="Orphanet:86819/e", source="MONDO:equivalentTo", source="DOID:0060689", source="Orphanet:86819"} xref: Orphanet:86819 {source="OMIM:209500", source="MONDO:equivalentTo", source="DOID:0060689"} xref: SCTID:715963002 {source="MONDO:equivalentTo"} xref: UMLS:C1859592 {source="OMIM:209500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:86819"} @@ -163973,10 +163942,10 @@ synonym: "folliculitis ulerythematosa reticulata" RELATED [OMIM:209700] synonym: "folliculitis ulerythematosa reticulate" EXACT [Orphanet:79100] synonym: "honeycomb atrophy" RELATED [OMIM:209700] xref: GARD:0009744 {source="MONDO:equivalentTo"} -xref: ICD10CM:L66.4 {source="ORDO:79100/ntbt", source="ORDO:79100/index", source="Orphanet:79100"} +xref: ICD10CM:L66.4 {source="Orphanet:79100", source="Orphanet:79100/ntbt", source="Orphanet:79100/index"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:209700 {source="MONDO:equivalentTo", source="ORDO:79100/e", source="Orphanet:79100"} -xref: OMIM:604093 {source="MONDO:subClassOf", source="ORDO:79100/ntbt", source="Orphanet:79100"} +xref: OMIM:209700 {source="Orphanet:79100/e", source="MONDO:equivalentTo", source="Orphanet:79100"} +xref: OMIM:604093 {source="MONDO:subClassOf", source="Orphanet:79100", source="Orphanet:79100/ntbt"} xref: Orphanet:79100 {source="OMIM:209700", source="MONDO:equivalentTo"} xref: SCTID:2736005 {source="MONDO:equivalentTo"} xref: UMLS:C0263429 {source="OMIM:209700", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79100"} @@ -163992,9 +163961,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1488"} synonym: "aural atresia, multiple congenital anomalies, and intellectual disability" RELATED [OMIM:209770] synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED DEPRECATED [OMIM:209770] synonym: "aural atresia-multiple congenital anomalies-intellectual disability syndrome" EXACT [Orphanet:1488] -xref: ICD10CM:Q87.8 {source="Orphanet:1488", source="ORDO:1488/attributed", source="ORDO:1488/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1488/attributed", source="Orphanet:1488/ntbt", source="Orphanet:1488"} xref: MESH:C565923 {source="MONDO:equivalentTo"} -xref: OMIM:209770 {source="Orphanet:1488", source="ORDO:1488/e", source="MONDO:equivalentTo"} +xref: OMIM:209770 {source="Orphanet:1488", source="MONDO:equivalentTo", source="Orphanet:1488/e"} xref: Orphanet:1488 {source="MONDO:equivalentTo", source="OMIM:209770"} xref: SCTID:720748007 {source="MONDO:equivalentTo"} xref: UMLS:C1859591 {source="Orphanet:1488", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:209770"} @@ -164041,15 +164010,15 @@ synonym: "ondine-Hirschsprung disease" RELATED [OMIM:209880] synonym: "primary alveolar hypoventilation" RELATED [GARD:0008535] xref: DOID:0060731 {source="MONDO:equivalentTo"} xref: GARD:0008535 {source="MONDO:equivalentTo"} -xref: ICD10CM:G47.3 {source="ORDO:661/inclusion", source="ORDO:661/ntbt", source="MONDO:relatedTo", source="DOID:0060731", source="Orphanet:661"} -xref: MedDRA:10007982 {source="ORDO:661/e", source="Orphanet:661"} -xref: MedDRA:10066131 {source="ORDO:661/e", source="Orphanet:661"} +xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="DOID:0060731", source="Orphanet:661/ntbt", source="Orphanet:661/inclusion", source="Orphanet:661"} +xref: MedDRA:10007982 {source="Orphanet:661/e", source="Orphanet:661"} +xref: MedDRA:10066131 {source="Orphanet:661/e", source="Orphanet:661"} xref: NCIT:C98889 {source="MONDO:equivalentTo"} -xref: OMIM:209880 {source="MONDO:equivalentTo", source="DOID:0060731", source="ORDO:661/e", source="Orphanet:661"} +xref: OMIM:209880 {source="Orphanet:661/e", source="MONDO:equivalentTo", source="DOID:0060731", source="Orphanet:661"} xref: Orphanet:661 {source="MONDO:equivalentTo", source="DOID:0060731", source="OMIM:209880"} xref: Orphanet:99803 {source="MONDO:superClassOf", source="OMIM:209880"} xref: SCTID:230499002 {source="MONDO:equivalentTo"} -xref: UMLS:C1275808 {source="NCIT:C98889", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:661/e", source="Orphanet:661", source="OMIM:209880"} +xref: UMLS:C1275808 {source="NCIT:C98889", source="Orphanet:661/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:661", source="OMIM:209880"} xref: UMLS:C1859049 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:209880"} is_a: MONDO:0001292 {source="Orphanet:661"} ! autonomic nervous system disorder is_a: MONDO:0002254 {source="NCIT:C98889"} ! syndromic disease @@ -164079,12 +164048,12 @@ synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GA synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Orphanet:1231] xref: DOID:0060549 {source="MONDO:equivalentTo"} xref: GARD:0000819 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:1231", source="ORDO:1231/attributed", source="ORDO:1231/ntbt"} -xref: MESH:C537908 {source="Orphanet:1231", source="ORDO:1231/e", source="MONDO:equivalentTo", source="DOID:0060549"} -xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="ORDO:1231/e", source="MONDO:equivalentTo", source="DOID:0060549"} +xref: ICD10CM:Q87.0 {source="Orphanet:1231", source="Orphanet:1231/attributed", source="Orphanet:1231/ntbt"} +xref: MESH:C537908 {source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} +xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} xref: Orphanet:1231 {source="GARD:0000819", source="OMIM:209885", source="MONDO:equivalentTo", source="DOID:0060549"} xref: SCTID:408537003 {source="MONDO:equivalentTo", source="DOID:0060549"} -xref: UMLS:C1319466 {source="GARD:0000819", source="OMIM:209885", source="Orphanet:1231", source="ORDO:1231/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060549"} +xref: UMLS:C1319466 {source="GARD:0000819", source="OMIM:209885", source="Orphanet:1231", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} is_a: MONDO:0015161 {source="Orphanet:1231", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019280 {source="MESH:C537908", source="Orphanet:1231", source="linkedlifedata"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:1231"} ! ectodermal dysplasia syndrome @@ -164182,11 +164151,11 @@ synonym: "severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD xref: DOID:5812 {source="MONDO:equivalentTo"} xref: GARD:0000824 {source="MONDO:equivalentTo"} xref: ICD10CM:D81.6 {source="DOID:5812"} -xref: ICD10CM:D81.7 {source="ORDO:572/e", source="ORDO:572/specific", source="Orphanet:572"} +xref: ICD10CM:D81.7 {source="Orphanet:572/specific", source="Orphanet:572/e", source="Orphanet:572"} xref: MESH:C537079 {source="MONDO:equivalentTo"} xref: MESH:D016511 {source="MONDO:relatedTo", source="DOID:5812"} xref: NCIT:C3895 {source="DOID:5812", source="MONDO:equivalentTo"} -xref: OMIM:209920 {source="DOID:5812", source="MONDO:equivalentTo", source="ORDO:572/e", source="GARD:0000824", source="Orphanet:572"} +xref: OMIM:209920 {source="Orphanet:572/e", source="DOID:5812", source="MONDO:equivalentTo", source="GARD:0000824", source="Orphanet:572"} xref: Orphanet:572 {source="OMIM:209920", source="MONDO:equivalentTo", source="GARD:0000824"} xref: SCTID:71904008 {source="DOID:5812", source="MONDO:equivalentTo"} xref: UMLS:C0242583 {source="NCBI:mim2gene_medline", source="DOID:5812", source="MONDO:notFoundInDiseaseSubset"} @@ -164251,12 +164220,12 @@ synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [OMIM: synonym: "lethal hydrocephalus-cardiac malformation-dense bones syndrome" EXACT [Orphanet:1237] synonym: "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" RELATED [GARD:0000846] xref: GARD:0000846 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1237/attributed", source="ORDO:1237/ntbt", source="Orphanet:1237"} -xref: MESH:C537668 {source="MONDO:equivalentTo", source="Orphanet:1237", source="ORDO:1237/e"} -xref: OMIM:209970 {source="MONDO:equivalentTo", source="Orphanet:1237", source="ORDO:1237/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1237", source="Orphanet:1237/attributed", source="Orphanet:1237/ntbt"} +xref: MESH:C537668 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"} +xref: OMIM:209970 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"} xref: Orphanet:1237 {source="MONDO:equivalentTo", source="OMIM:209970"} xref: SCTID:717859007 {source="MONDO:equivalentTo"} -xref: UMLS:C1859526 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1237", source="ORDO:1237/e", source="OMIM:209970"} +xref: UMLS:C1859526 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e", source="OMIM:209970"} is_a: MONDO:0015161 {source="Orphanet:1237", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1237", source="Orphanet:1237/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:1237"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -164279,12 +164248,12 @@ synonym: "optic atrophy, infantile hereditary, Behr complicated form of" RELATED synonym: "optic atrophy, infantile hereditary, with neurologic abnormalities" RELATED [OMIM:210000] xref: DOID:0111580 {source="MONDO:equivalentTo"} xref: GARD:0000849 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="ORDO:1239/ntbt", source="MONDO:relatedTo", source="ORDO:1239/index", source="Orphanet:1239"} -xref: MESH:C537669 {source="MONDO:equivalentTo", source="Orphanet:1239", source="ORDO:1239/e"} -xref: OMIM:210000 {source="MONDO:equivalentTo", source="Orphanet:1239", source="ORDO:1239/e"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:1239", source="Orphanet:1239/index", source="Orphanet:1239/ntbt"} +xref: MESH:C537669 {source="MONDO:equivalentTo", source="Orphanet:1239", source="Orphanet:1239/e"} +xref: OMIM:210000 {source="MONDO:equivalentTo", source="Orphanet:1239", source="Orphanet:1239/e"} xref: Orphanet:1239 {source="MONDO:equivalentObsolete", source="OMIM:210000"} xref: SCTID:718221007 {source="MONDO:equivalentTo"} -xref: UMLS:C0221061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210000", source="Orphanet:1239", source="ORDO:1239/e"} +xref: UMLS:C0221061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210000", source="Orphanet:1239", source="Orphanet:1239/e"} is_a: MONDO:0018609 {source="Orphanet:1239"} ! syndromic hereditary optic neuropathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8140 {source="mim2gene_medgen"} ! OPA1 property_value: confidence "8.375" xsd:double @@ -164308,7 +164277,6 @@ id: MONDO:0008860 name: beta-aminoisobutyric acid, urinary excretion of synonym: "Baib urinary excretion" RELATED [OMIM:210100] synonym: "BAIBA" RELATED ABBREVIATION [OMIM:210100] -synonym: "beta-aminoisobutyric acid, urinary excretion of" EXACT [OMIM:210100] synonym: "beta-aminoisobutyric acid, urinary excretion of" EXACT [OMIM:210100, OMIM:genemap2] synonym: "BETA-aminoisobutyric aciduria" RELATED [OMIM:210100] synonym: "Beta-aminoisobutyric aciduria" RELATED [OMIM:210100] @@ -164363,7 +164331,7 @@ xref: Orphanet:6 {source="GARD:0005665", source="MONDO:subClassOf", source="OMIM xref: UMLS:C0268600 {source="GARD:0005665", source="MONDO:subClassOf", source="OMIM:210200"} xref: UMLS:CN028786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004739 {source="MESH:C535308"} ! urea cycle disorder -is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210200", source="ORDO:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency +is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210200", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency is_a: MONDO:0019052 {source="MESH:C535308/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6936 ! MCCC1 @@ -164393,7 +164361,7 @@ xref: MESH:C535309 {source="MONDO:equivalentTo"} xref: OMIM:210210 {source="MONDO:equivalentTo"} xref: Orphanet:6 {source="MONDO:subClassOf", source="OMIM:210210"} xref: UMLS:C1859499 {source="NCBI:mim2gene_medline", source="OMIM:210210", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210210", source="ORDO:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency +is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210210", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6937 ! MCCC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6937 {source="mim2gene_medgen"} ! MCCC2 @@ -164413,17 +164381,17 @@ synonym: "sitosterolemia" EXACT CLINGEN_PREFERRED [OMIM:210250] synonym: "STSL" RELATED ABBREVIATION [OMIM:210250] xref: DOID:0090019 {source="MONDO:equivalentTo"} xref: GARD:0007653 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.0 {source="Orphanet:2882", source="ORDO:2882/attributed", source="ORDO:2882/ntbt", source="DOID:0090019"} -xref: MedDRA:10063985 {source="ORDO:2882/e", source="Orphanet:2882"} -xref: MESH:C537345 {source="ORDO:2882/e", source="Orphanet:2882", source="MONDO:equivalentTo", source="DOID:0090019"} +xref: ICD10CM:E78.0 {source="Orphanet:2882/attributed", source="Orphanet:2882/ntbt", source="Orphanet:2882", source="DOID:0090019"} +xref: MedDRA:10063985 {source="Orphanet:2882", source="Orphanet:2882/e"} +xref: MESH:C537345 {source="Orphanet:2882", source="MONDO:equivalentTo", source="Orphanet:2882/e", source="DOID:0090019"} xref: NCIT:C125694 {source="MONDO:equivalentTo"} -xref: OMIM:210250 {source="MONDO:subClassOf", source="ORDO:2882/e", source="Orphanet:2882", source="DOID:0090019"} +xref: OMIM:210250 {source="MONDO:subClassOf", source="Orphanet:2882", source="Orphanet:2882/e", source="DOID:0090019"} xref: OMIMPS:210250 {source="MONDO:equivalentTo"} xref: OMIMPS:215250 {source="MONDO:equivalentObsolete"} xref: Orphanet:101022 {source="OMIM:210250", source="MONDO:equivalentObsolete"} xref: Orphanet:2882 {source="OMIM:210250", source="MONDO:equivalentTo", source="DOID:0090019"} xref: SCTID:238104009 {source="MONDO:equivalentTo"} -xref: UMLS:C0342907 {source="ORDO:2882/e", source="OMIM:210250", source="Orphanet:2882", source="NCIT:C125694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0090019"} +xref: UMLS:C0342907 {source="OMIM:210250", source="Orphanet:2882", source="NCIT:C125694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2882/e", source="DOID:0090019"} xref: UMLS:C2749759 {source="OMIM:210250", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015905 {source="Orphanet:2882"} ! syndromic dyslipidemia relationship: has_modifier MONDO:0021152 {source="OMIMPS:210250", source="OMIMPS:215250"} ! inherited @@ -164445,12 +164413,12 @@ synonym: "iris coloboma, intellectual disability, obesity, hypogenitalism, and p synonym: "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly" RELATED DEPRECATED [GARD:0000882] xref: GARD:0000882 {source="MONDO:equivalentTo"} xref: MESH:C565902 {source="MONDO:equivalentTo"} -xref: OMIM:210350 {source="GARD:0000882", source="MONDO:equivalentTo", source="Orphanet:141333", source="ORDO:141333/e"} +xref: OMIM:210350 {source="GARD:0000882", source="MONDO:equivalentTo", source="Orphanet:141333", source="Orphanet:141333/e"} xref: Orphanet:141333 {source="OMIM:210350", source="MONDO:equivalentTo"} xref: SCTID:717887003 {source="MONDO:equivalentTo"} xref: UMLS:C0796190 {source="GARD:0000882", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1859487 {source="NCBI:mim2gene_medline", source="OMIM:210350", source="MONDO:equivalentTo", source="Orphanet:141333"} -xref: UMLS:C2930903 {source="Orphanet:141333", source="MONDO:notFoundInDiseaseSubset", source="ORDO:141333/e"} +xref: UMLS:C2930903 {source="Orphanet:141333", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141333/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:141333", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:141333"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -164471,9 +164439,9 @@ synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" REL synonym: "Bietti's crystalline dystrophy" EXACT [DOID:0050664] xref: DOID:0050664 {source="MONDO:equivalentTo"} xref: GARD:0010050 {source="MONDO:equivalentTo"} -xref: ICD10CM:H15.5 {source="Orphanet:41751", source="ORDO:41751/attributed", source="ORDO:41751/ntbt"} -xref: MESH:C535440 {source="Orphanet:41751", source="MONDO:equivalentTo", source="ORDO:41751/e"} -xref: OMIM:210370 {source="Orphanet:41751", source="DOID:0050664", source="MONDO:equivalentTo", source="ORDO:41751/e"} +xref: ICD10CM:H15.5 {source="Orphanet:41751/attributed", source="Orphanet:41751/ntbt", source="Orphanet:41751"} +xref: MESH:C535440 {source="Orphanet:41751", source="MONDO:equivalentTo", source="Orphanet:41751/e"} +xref: OMIM:210370 {source="Orphanet:41751", source="DOID:0050664", source="MONDO:equivalentTo", source="Orphanet:41751/e"} xref: Orphanet:41751 {source="OMIM:210370", source="MONDO:equivalentTo"} xref: SCTID:312927001 {source="MONDO:equivalentTo"} xref: UMLS:C1859486 {source="OMIM:210370", source="Orphanet:41751", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -164514,17 +164482,17 @@ synonym: "isolated biliary atresia" RELATED [Orphanet:30391] synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391] xref: DOID:13608 {source="MONDO:equivalentTo"} xref: GARD:0012010 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q44.2 {source="DOID:13608", source="ORDO:30391/e", source="Orphanet:30391"} +xref: ICD10CM:Q44.2 {source="Orphanet:30391/e", source="DOID:13608", source="Orphanet:30391"} xref: ICD9:751.61 {source="DOID:13608", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10003650 {source="ORDO:30391/e", source="Orphanet:30391"} -xref: MESH:D001656 {source="DOID:13608", source="MONDO:equivalentTo", source="ORDO:30391/e", source="Orphanet:30391"} +xref: MedDRA:10003650 {source="Orphanet:30391/e", source="Orphanet:30391"} +xref: MESH:D001656 {source="Orphanet:30391/e", source="DOID:13608", source="MONDO:equivalentTo", source="Orphanet:30391"} xref: NCIT:C34421 {source="DOID:13608", source="MONDO:equivalentTo"} -xref: OMIM:210500 {source="ORDO:30391/e", source="MONDO:superClassOf", source="Orphanet:30391"} +xref: OMIM:210500 {source="Orphanet:30391/e", source="MONDO:superClassOf", source="Orphanet:30391"} xref: Orphanet:30391 {source="DOID:13608", source="MONDO:equivalentTo", source="OMIM:210500"} xref: SCTID:204779004 {source="DOID:13608"} xref: SCTID:204783004 {source="DOID:13608"} xref: SCTID:77480004 {source="DOID:13608", source="MONDO:equivalentTo"} -xref: UMLS:C0005411 {source="NCBI:mim2gene_medline", source="DOID:13608", source="MONDO:equivalentTo", source="ORDO:30391/e", source="NCIT:C34421", source="OMIM:210500", source="Orphanet:30391"} +xref: UMLS:C0005411 {source="Orphanet:30391/e", source="NCBI:mim2gene_medline", source="DOID:13608", source="MONDO:equivalentTo", source="NCIT:C34421", source="OMIM:210500", source="Orphanet:30391"} is_a: MONDO:0001751 {source="DOID:13608"} ! cholestasis is_a: MONDO:0004868 {source="Orphanet:30391"} ! biliary tract disorder is_a: MONDO:0006322 {source="NCIT:C34421"} ! non-neoplastic bile duct disorder @@ -164583,11 +164551,11 @@ synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895] xref: GARD:0000895 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2617/attributed", source="ORDO:2617/ntbt", source="Orphanet:2617"} -xref: MESH:C535448 {source="MONDO:equivalentTo", source="ORDO:2617/e", source="Orphanet:2617"} -xref: OMIM:210700 {source="MONDO:equivalentTo", source="ORDO:2617/e", source="Orphanet:2617"} +xref: ICD10CM:Q87.1 {source="Orphanet:2617/attributed", source="Orphanet:2617/ntbt", source="Orphanet:2617"} +xref: MESH:C535448 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} +xref: OMIM:210700 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} xref: Orphanet:2617 {source="MONDO:equivalentTo", source="OMIM:210700"} -xref: UMLS:C1859468 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2617/e", source="OMIM:210700", source="Orphanet:2617"} +xref: UMLS:C1859468 {source="Orphanet:2617/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210700", source="Orphanet:2617"} is_a: MONDO:0000508 {source="Orphanet:2617", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2617", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017950 {source="DC-OMIM:210700"} ! microcephalic primordial dwarfism @@ -164618,7 +164586,7 @@ xref: SCTID:254102008 {source="MONDO:equivalentTo"} xref: UMLS:C1859452 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:210710"} is_a: MONDO:0000060 {source="DC-OMIM:210710", source="MONDO:Entailed", source="MONDO:Redundant"} ! microcephalic osteodysplastic primordial dwarfism is_a: MONDO:0005516 {source="DOID:0060608", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia -is_a: MONDO:0016994 {source="ORDO:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III +is_a: MONDO:0016994 {source="Orphanet:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III intersection_of: MONDO:0000060 ! microcephalic osteodysplastic primordial dwarfism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/34016 ! RNU4ATAC relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/34016 {source="mim2gene_medgen"} ! RNU4ATAC @@ -164644,9 +164612,9 @@ synonym: "osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609] synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720] xref: DOID:0060609 {source="MONDO:equivalentTo"} xref: GARD:0009844 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="DOID:0060609", source="ORDO:2637/attributed", source="ORDO:2637/ntbt", source="Orphanet:2637"} +xref: ICD10CM:Q87.1 {source="DOID:0060609", source="Orphanet:2637/attributed", source="Orphanet:2637/ntbt", source="Orphanet:2637"} xref: MESH:C565898 {source="MONDO:equivalentTo"} -xref: OMIM:210720 {source="DOID:0060609", source="MONDO:equivalentTo", source="ORDO:2637/e", source="Orphanet:2637"} +xref: OMIM:210720 {source="DOID:0060609", source="Orphanet:2637/e", source="MONDO:equivalentTo", source="Orphanet:2637"} xref: Orphanet:2637 {source="DOID:0060609", source="MONDO:equivalentTo", source="OMIM:210720"} xref: SCTID:254103003 {source="MONDO:equivalentTo"} xref: UMLS:C0432246 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:210720", source="Orphanet:2637"} @@ -164673,7 +164641,7 @@ xref: OMIM:210730 {source="MONDO:equivalentTo"} xref: Orphanet:2636 {source="MONDO:subClassOf", source="OMIM:210730"} xref: UMLS:C1859439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210730"} is_a: MONDO:0000060 {source="DC-OMIM:210730"} ! microcephalic osteodysplastic primordial dwarfism -is_a: MONDO:0016994 {source="ORDO:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III +is_a: MONDO:0016994 {source="Orphanet:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III property_value: confidence "1.8124999999999996" xsd:double [Term] @@ -164687,13 +164655,13 @@ synonym: "Bangstad syndrome" EXACT [OMIM:210740] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740] xref: GARD:0000812 {source="MONDO:equivalentTo"} -xref: ICD10CM:E31.8 {source="ORDO:1227/attributed", source="ORDO:1227/ntbt", source="Orphanet:1227"} +xref: ICD10CM:E31.8 {source="Orphanet:1227", source="Orphanet:1227/attributed", source="Orphanet:1227/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537902 {source="MONDO:equivalentTo", source="ORDO:1227/e", source="Orphanet:1227"} -xref: OMIM:210740 {source="MONDO:equivalentTo", source="ORDO:1227/e", source="Orphanet:1227"} +xref: MESH:C537902 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"} +xref: OMIM:210740 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"} xref: Orphanet:1227 {source="MONDO:equivalentTo", source="OMIM:210740"} xref: SCTID:237614004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1227/e", source="OMIM:210740", source="Orphanet:1227"} +xref: UMLS:C0342284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:210740", source="Orphanet:1227", source="Orphanet:1227/e"} is_a: MONDO:0005151 {source="Orphanet:1227", source="Orphanet:1227/inferred"} ! endocrine system disorder is_a: MONDO:0015126 {source="Orphanet:1227"} ! polyendocrinopathy relationship: has_modifier MONDO:0021136 {source="MONDO:0015513"} ! rare @@ -164710,12 +164678,12 @@ synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [ synonym: "Frydman Cohen Karmon syndrome" RELATED [GARD:0000905] synonym: "Frydman-Cohen-Karmon syndrome" EXACT [Orphanet:2057] xref: GARD:0000905 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2057", source="ORDO:2057/attributed", source="ORDO:2057/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2057/attributed", source="Orphanet:2057/ntbt", source="Orphanet:2057"} xref: MESH:C536235 {source="MONDO:equivalentTo"} -xref: OMIM:210745 {source="ORDO:2057/e", source="Orphanet:2057", source="MONDO:equivalentTo"} +xref: OMIM:210745 {source="Orphanet:2057", source="MONDO:equivalentTo", source="Orphanet:2057/e"} xref: Orphanet:2057 {source="MONDO:equivalentTo", source="OMIM:210745"} xref: SCTID:717914000 {source="MONDO:equivalentTo"} -xref: UMLS:C1859432 {source="ORDO:2057/e", source="Orphanet:2057", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:210745"} +xref: UMLS:C1859432 {source="Orphanet:2057", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2057/e", source="OMIM:210745"} is_a: MONDO:0015161 {source="Orphanet:2057", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0043008 {source="Orphanet:2057"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -164740,14 +164708,14 @@ synonym: "MGRISCE1" RELATED ABBREVIATION [MONDO:cjm] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [OMIM:210900] xref: DOID:2717 {source="MONDO:equivalentTo"} xref: GARD:0000915 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.2 {source="Orphanet:125", source="ORDO:125/index", source="MONDO:directSiblingOf", source="ORDO:125/ntbt"} +xref: ICD10CM:Q82.2 {source="Orphanet:125", source="Orphanet:125/index", source="Orphanet:125/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="ORDO:125/e", source="DOID:2717"} +xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"} xref: NCIT:C2903 {source="MONDO:equivalentTo", source="DOID:2717"} -xref: OMIM:210900 {source="Orphanet:125", source="MONDO:equivalentTo", source="ORDO:125/e", source="DOID:2717"} +xref: OMIM:210900 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"} xref: Orphanet:125 {source="MONDO:equivalentTo", source="OMIM:210900", source="DOID:2717"} xref: SCTID:4434006 {source="MONDO:equivalentTo", source="DOID:2717"} -xref: UMLS:C0005859 {source="Orphanet:125", source="NCIT:C2903", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:125/e", source="OMIM:210900", source="DOID:2717"} +xref: UMLS:C0005859 {source="Orphanet:125", source="NCIT:C2903", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:125/e", source="OMIM:210900", source="DOID:2717"} is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder is_a: MONDO:0006025 {source="DOID:2717", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015951 {source="Orphanet:125", source="PMID:27745641"} ! hereditary photodermatosis @@ -164771,12 +164739,12 @@ synonym: "Drummond syndrome" EXACT [Orphanet:94086] synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [Orphanet:94086] synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000] xref: GARD:0005939 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.8 {source="ORDO:94086/inclusion", source="ORDO:94086/ntbt", source="Orphanet:94086"} -xref: MESH:C536239 {source="MONDO:equivalentTo", source="ORDO:94086/e", source="Orphanet:94086"} -xref: OMIM:211000 {source="MONDO:equivalentTo", source="ORDO:94086/e", source="Orphanet:94086"} +xref: ICD10CM:E70.8 {source="Orphanet:94086/ntbt", source="Orphanet:94086/inclusion", source="Orphanet:94086"} +xref: MESH:C536239 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} +xref: OMIM:211000 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} xref: Orphanet:94086 {source="OMIM:211000", source="MONDO:equivalentTo"} xref: SCTID:59531002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268478 {source="OMIM:211000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:94086/e", source="Orphanet:94086"} +xref: UMLS:C0268478 {source="OMIM:211000", source="Orphanet:94086/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:94086"} is_a: MONDO:0019216 {source="Orphanet:94086"} ! inborn disorder of amino acid absorption and transport property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome xsd:anyURI {source="GARD:0005939"} @@ -164791,9 +164759,9 @@ synonym: "autosomal recessive lethal chondrodysplasia, round femoral inferior ep synonym: "bone dysplasia lethal Holmgren type" RELATED [GARD:0000922] synonym: "bone dysplasia, lethal, Holmgren type" RELATED [OMIM:211120] xref: GARD:0000922 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:1842/attributed", source="ORDO:1842/ntbt", source="Orphanet:1842"} +xref: ICD10CM:Q77.8 {source="Orphanet:1842", source="Orphanet:1842/attributed", source="Orphanet:1842/ntbt"} xref: MESH:C565896 {source="MONDO:equivalentTo"} -xref: OMIM:211120 {source="MONDO:equivalentTo", source="Orphanet:1842", source="ORDO:1842/e"} +xref: OMIM:211120 {source="MONDO:equivalentTo", source="Orphanet:1842", source="Orphanet:1842/e"} xref: Orphanet:1842 {source="OMIM:211120", source="MONDO:equivalentTo"} xref: SCTID:732249002 {source="MONDO:equivalentTo"} xref: UMLS:C1859407 {source="NCBI:mim2gene_medline", source="OMIM:211120", source="MONDO:equivalentTo", source="Orphanet:1842"} @@ -164816,13 +164784,13 @@ synonym: "Bowen-Conradi syndrome" EXACT [MONDO:Lexical, OMIM:211180] synonym: "BWCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211180] xref: DOID:0050684 {source="MONDO:equivalentTo"} xref: GARD:0005950 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1270/attributed", source="ORDO:1270/ntbt", source="Orphanet:1270"} +xref: ICD10CM:Q87.8 {source="Orphanet:1270/attributed", source="Orphanet:1270/ntbt", source="Orphanet:1270"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537081 {source="MONDO:equivalentTo", source="ORDO:1270/e", source="Orphanet:1270"} -xref: OMIM:211180 {source="DOID:0050684", source="MONDO:equivalentTo", source="ORDO:1270/e", source="Orphanet:1270"} +xref: MESH:C537081 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"} +xref: OMIM:211180 {source="DOID:0050684", source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"} xref: Orphanet:1270 {source="MONDO:equivalentTo", source="OMIM:211180"} xref: SCTID:711153001 {source="MONDO:equivalentTo"} -xref: UMLS:C1859405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1270/e", source="Orphanet:1270", source="OMIM:211180"} +xref: UMLS:C1859405 {source="Orphanet:1270/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1270", source="OMIM:211180"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1270", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0006025 {source="DOID:0050684", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:1270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -164856,11 +164824,11 @@ synonym: "congenital bowing with short bones" RELATED [GARD:0010149] synonym: "kyphomelic dysplasia" EXACT [OMIM:211350] xref: GARD:0010149 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538128 {source="MONDO:equivalentTo", source="ORDO:1801/e", source="Orphanet:1801"} -xref: OMIM:211350 {source="MONDO:equivalentTo", source="ORDO:1801/e", source="Orphanet:1801"} +xref: MESH:C538128 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} +xref: OMIM:211350 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} xref: Orphanet:1801 {source="OMIM:211350", source="MONDO:equivalentTo"} xref: SCTID:254096001 {source="MONDO:equivalentTo"} -xref: UMLS:C0432239 {source="OMIM:211350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1801/e", source="Orphanet:1801"} +xref: UMLS:C0432239 {source="Orphanet:1801/e", source="OMIM:211350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1801"} is_a: MONDO:0019698 {source="Orphanet:1801"} ! bent bone dysplasia property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia xsd:anyURI {source="GARD:0010149"} @@ -164874,16 +164842,16 @@ subset: ordo_morphological_anomaly {source="Orphanet:2292"} synonym: "bowing of long bones congenital" RELATED [GARD:0000953] synonym: "bowing of long bones, asymmetric and symmetric" RELATED [OMIM:211355] xref: GARD:0000953 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.3 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"} -xref: ICD10CM:Q68.4 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"} -xref: ICD10CM:Q68.5 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"} -xref: ICD10CM:Q68.8 {source="ORDO:2292/btnt", source="ORDO:2292/specific", source="Orphanet:2292"} -xref: MedDRA:10054064 {source="Orphanet:2292", source="ORDO:2292/e"} -xref: OMIM:211355 {source="MONDO:equivalentTo", source="Orphanet:2292", source="ORDO:2292/e"} -xref: OMIM:264050 {source="ORDO:2292/btnt", source="MONDO:superClassOf", source="Orphanet:2292"} +xref: ICD10CM:Q68.3 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} +xref: ICD10CM:Q68.4 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} +xref: ICD10CM:Q68.5 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} +xref: ICD10CM:Q68.8 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} +xref: MedDRA:10054064 {source="Orphanet:2292/e", source="Orphanet:2292"} +xref: OMIM:211355 {source="Orphanet:2292/e", source="MONDO:equivalentTo", source="Orphanet:2292"} +xref: OMIM:264050 {source="MONDO:superClassOf", source="Orphanet:2292", source="Orphanet:2292/btnt"} xref: Orphanet:2292 {source="MONDO:equivalentTo", source="OMIM:211355"} xref: SCTID:716098006 {source="MONDO:equivalentTo"} -xref: UMLS:C1096546 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2292", source="ORDO:2292/e"} +xref: UMLS:C1096546 {source="Orphanet:2292/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2292"} xref: UMLS:C1859394 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:211355"} is_a: MONDO:0017427 {source="Orphanet:2292"} ! congenital deformities of limbs is_a: MONDO:0019698 {source="Orphanet:2292"} ! bent bone dysplasia @@ -164910,9 +164878,9 @@ synonym: "brachymetapody anodontia hypotrichosis albinoidism" EXACT [MONDO:00226 synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" EXACT [OMIM:211370] synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370] xref: GARD:0000992 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:2713/attributed", source="ORDO:2713/ntbt", source="Orphanet:2713"} +xref: ICD10CM:Q87.5 {source="Orphanet:2713", source="Orphanet:2713/attributed", source="Orphanet:2713/ntbt"} xref: MESH:C565893 {source="MONDO:equivalentTo"} -xref: OMIM:211370 {source="MONDO:equivalentTo", source="Orphanet:2713", source="ORDO:2713/e"} +xref: OMIM:211370 {source="MONDO:equivalentTo", source="Orphanet:2713", source="Orphanet:2713/e"} xref: Orphanet:2713 {source="OMIM:211370", source="MONDO:equivalentTo"} xref: SCTID:722061006 {source="MONDO:equivalentTo"} xref: UMLS:C1859385 {source="OMIM:211370", source="GARD:0000992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2713"} @@ -164938,16 +164906,16 @@ synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [Orphanet:157788] xref: DOID:0080631 {source="MONDO:equivalentTo"} xref: GARD:0000955 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1299", source="ORDO:1299/attributed", source="ORDO:1299/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1299", source="Orphanet:1299/attributed", source="Orphanet:1299/ntbt"} xref: MESH:C537084 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C566373 {source="MONDO:equivalentTo"} -xref: OMIM:211380 {source="Orphanet:1299", source="ORDO:1299/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: OMIM:211380 {source="Orphanet:1299", source="MONDO:equivalentTo", source="Orphanet:1299/e", source="MONDO:preferredExternal"} xref: OMIM:603463 {source="MONDO:equivalentTo"} xref: Orphanet:1299 {source="OMIM:211380", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:157788 {source="MONDO:equivalentTo", source="OMIM:603463"} xref: SCTID:719097002 {source="MONDO:equivalentTo"} xref: UMLS:C0809936 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1859384 {source="OMIM:211380", source="Orphanet:1299", source="ORDO:1299/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1859384 {source="OMIM:211380", source="Orphanet:1299", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1299/e"} xref: UMLS:C1863870 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603463"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1299", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0003847 {source="Orphanet:157788/inferred"} ! Mendelian disease @@ -164985,7 +164953,7 @@ xref: OMIM:211400 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="MONDO:subClassOf", source="OMIM:211400"} xref: UMLS:C2749757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211400"} is_a: MONDO:0004822 {source="MESH:C567618", source="MONDO:Redundant", source="OMIM:211400", source="indirect"} ! bronchiectasis -is_a: MONDO:0018956 {source="ORDO:60033/btnt"} ! idiopathic bronchiectasis +is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "19.99999999999998" xsd:double @@ -164997,7 +164965,7 @@ synonym: "BRONCHOMALACIA" RELATED ABBREVIATION [OMIM:211450] synonym: "tracheobronchomalacia" RELATED [GARD:0007791] synonym: "Williams-Campbell syndrome" EXACT [OMIM:211450] xref: GARD:0007791 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q33.4 {source="Orphanet:411501", source="ORDO:411501/ntbt"} +xref: ICD10CM:Q33.4 {source="Orphanet:411501/ntbt", source="Orphanet:411501"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:211450 {source="MONDO:equivalentTo"} xref: Orphanet:411501 {source="MONDO:equivalentTo"} @@ -165025,12 +164993,12 @@ synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [DOID:12918, ICD xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"} xref: EFO:1001211 {source="MONDO:equivalentTo"} xref: GARD:0005969 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I73.1 {source="EFO:1001211", source="ORDO:36258/e", source="DOID:12918", source="Orphanet:36258"} +xref: ICD10CM:I73.1 {source="EFO:1001211", source="Orphanet:36258/e", source="DOID:12918", source="Orphanet:36258"} xref: ICD9:443.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12918"} xref: MedDRA:10043540 {source="EFO:1001211"} xref: MESH:D013919 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"} xref: NCIT:C35070 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"} -xref: OMIM:211480 {source="EFO:1001211", source="MONDO:equivalentTo", source="ORDO:36258/e", source="DOID:12918", source="Orphanet:36258"} +xref: OMIM:211480 {source="EFO:1001211", source="Orphanet:36258/e", source="MONDO:equivalentTo", source="DOID:12918", source="Orphanet:36258"} xref: Orphanet:36258 {source="OMIM:211480", source="MONDO:equivalentTo"} xref: SCTID:155432001 {source="DOID:12918"} xref: SCTID:195298008 {source="DOID:12918"} @@ -165091,15 +165059,15 @@ synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:de synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229] xref: DOID:0050694 {source="MONDO:equivalentTo"} xref: GARD:0009993 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G12.1 {source="ORDO:97229/attributed", source="ORDO:97229/ntbt", source="Orphanet:97229"} -xref: MESH:C537111 {source="ORDO:97229/e", source="MONDO:equivalentTo", source="Orphanet:97229"} +xref: ICD10CM:G12.1 {source="Orphanet:97229", source="Orphanet:97229/attributed", source="Orphanet:97229/ntbt"} +xref: MESH:C537111 {source="MONDO:equivalentTo", source="Orphanet:97229", source="Orphanet:97229/e"} xref: OMIM:211500 {source="DOID:0050694", source="Orphanet:97229", source="MONDO:superClassOf"} -xref: OMIM:211530 {source="ORDO:97229/e", source="Orphanet:97229", source="MONDO:superClassOf"} -xref: OMIM:614707 {source="ORDO:97229/btnt", source="Orphanet:97229", source="MONDO:superClassOf"} +xref: OMIM:211530 {source="Orphanet:97229", source="MONDO:superClassOf", source="Orphanet:97229/e"} +xref: OMIM:614707 {source="Orphanet:97229", source="MONDO:superClassOf", source="Orphanet:97229/btnt"} xref: OMIMPS:211530 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:97229 {source="MONDO:equivalentTo", source="OMIM:211530"} xref: SCTID:699866005 {source="MONDO:equivalentTo"} -xref: UMLS:C0796274 {source="ORDO:97229/e", source="OMIM:211530", source="Orphanet:97229", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0796274 {source="OMIM:211530", source="Orphanet:97229", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97229/e"} is_a: MONDO:0020128 {source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0032217 ! riboflavin transmembrane transporter activity @@ -165129,9 +165097,9 @@ synonym: "progressive familial intrahepatic cholestasis" RELATED [GARD:0009802] synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802] xref: DOID:0070226 {source="MONDO:equivalentTo"} xref: GARD:0009802 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="Orphanet:79306", source="ORDO:79306/attributed", source="ORDO:79306/ntbt"} -xref: MESH:C535933 {source="ORDO:79306/e", source="Orphanet:79306"} -xref: OMIM:211600 {source="ORDO:79306/e", source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo"} +xref: ICD10CM:K76.8 {source="Orphanet:79306", source="Orphanet:79306/attributed", source="Orphanet:79306/ntbt"} +xref: MESH:C535933 {source="Orphanet:79306", source="Orphanet:79306/e"} +xref: OMIM:211600 {source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo", source="Orphanet:79306/e"} xref: Orphanet:172 {source="MONDO:subClassOf", source="OMIM:211600"} xref: Orphanet:79306 {source="GARD:0009802", source="MONDO:equivalentTo", source="OMIM:211600"} xref: UMLS:C0268312 {source="MONDO:subClassOf", source="GARD:0009802", source="NCBI:mim2gene_medline", source="OMIM:211600"} @@ -165156,9 +165124,9 @@ synonym: "trigonocephaly C syndrome" EXACT [Orphanet:1308] synonym: "trigonocephaly syndrome" RELATED [OMIM:211750] xref: DOID:0111581 {source="MONDO:equivalentTo"} xref: GARD:0005978 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1308/attributed", source="ORDO:1308/ntbt", source="Orphanet:1308"} +xref: ICD10CM:Q87.8 {source="Orphanet:1308/attributed", source="Orphanet:1308/ntbt", source="Orphanet:1308"} xref: MESH:C537418 {source="MONDO:equivalentTo"} -xref: OMIM:211750 {source="MONDO:equivalentTo", source="ORDO:1308/e", source="Orphanet:1308"} +xref: OMIM:211750 {source="Orphanet:1308/e", source="MONDO:equivalentTo", source="Orphanet:1308"} xref: Orphanet:1308 {source="MONDO:equivalentTo", source="OMIM:211750"} xref: SCTID:715409005 {source="MONDO:equivalentTo"} xref: UMLS:C0796095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211750", source="Orphanet:1308"} @@ -165178,9 +165146,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1375"} synonym: "CAHMR syndrome" EXACT [OMIM:211770, Orphanet:1375] synonym: "cataract, hypertrichosis, intellectual disability syndrome" RELATED [OMIM:211770] synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED DEPRECATED [OMIM:211770] -xref: ICD10CM:Q87.8 {source="Orphanet:1375", source="ORDO:1375/attributed", source="ORDO:1375/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1375/attributed", source="Orphanet:1375/ntbt", source="Orphanet:1375"} xref: MESH:C537959 {source="MONDO:equivalentTo"} -xref: OMIM:211770 {source="ORDO:1375/e", source="Orphanet:1375", source="MONDO:equivalentTo"} +xref: OMIM:211770 {source="Orphanet:1375", source="MONDO:equivalentTo", source="Orphanet:1375/e"} xref: Orphanet:1375 {source="OMIM:211770", source="MONDO:equivalentTo"} xref: SCTID:722379001 {source="MONDO:equivalentTo"} xref: UMLS:C0796282 {source="Orphanet:1375", source="OMIM:211770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -165205,7 +165173,7 @@ synonym: "CALJA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211800, Orphanet:289601 xref: DOID:0111582 {source="MONDO:equivalentTo"} xref: GARD:0010762 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C565891 {source="MONDO:equivalentTo"} -xref: OMIM:211800 {source="ORDO:289601/e", source="MONDO:equivalentTo", source="Orphanet:289601"} +xref: OMIM:211800 {source="MONDO:equivalentTo", source="Orphanet:289601", source="Orphanet:289601/e"} xref: Orphanet:289601 {source="MONDO:equivalentTo", source="OMIM:211800"} xref: SCTID:718602007 {source="MONDO:equivalentTo"} xref: UMLS:C1859372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211800"} @@ -165227,12 +165195,12 @@ synonym: "campomelia, Cumming type" EXACT [OMIM:211890] synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890] synonym: "Cumming syndrome" RELATED [OMIM:211890] xref: GARD:0001061 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1318/attributed", source="ORDO:1318/ntbt", source="Orphanet:1318"} -xref: MESH:C537966 {source="MONDO:equivalentTo", source="Orphanet:1318", source="ORDO:1318/e"} -xref: OMIM:211890 {source="MONDO:equivalentTo", source="Orphanet:1318", source="ORDO:1318/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1318", source="Orphanet:1318/attributed", source="Orphanet:1318/ntbt"} +xref: MESH:C537966 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} +xref: OMIM:211890 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} xref: Orphanet:1318 {source="OMIM:211890", source="MONDO:equivalentTo"} xref: SCTID:720599002 {source="MONDO:equivalentTo"} -xref: UMLS:C1859371 {source="NCBI:mim2gene_medline", source="OMIM:211890", source="MONDO:equivalentTo", source="Orphanet:1318", source="ORDO:1318/e"} +xref: UMLS:C1859371 {source="Orphanet:1318/e", source="NCBI:mim2gene_medline", source="OMIM:211890", source="MONDO:equivalentTo", source="Orphanet:1318"} is_a: MONDO:0015160 {source="Orphanet:1318", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1318"} ! syndromic lymphedema @@ -165263,13 +165231,13 @@ synonym: "FTSS" RELATED ABBREVIATION [GARD:0001067] synonym: "GCS 1" RELATED [GARD:0001067] synonym: "GCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211910] xref: GARD:0001067 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:1327/attributed", source="ORDO:1327/ntbt", source="Orphanet:1327"} -xref: MESH:C537970 {source="MONDO:equivalentTo", source="Orphanet:1327", source="ORDO:1327/e"} -xref: OMIM:211910 {source="MONDO:equivalentTo", source="Orphanet:1327", source="ORDO:1327/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:1327", source="Orphanet:1327/attributed", source="Orphanet:1327/ntbt"} +xref: MESH:C537970 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"} +xref: OMIM:211910 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"} xref: Orphanet:1327 {source="MONDO:equivalentTo", source="OMIM:211910"} xref: SCTID:720602007 {source="MONDO:equivalentTo"} xref: UMLS:C1859359 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1327", source="OMIM:211910"} -xref: UMLS:C2931679 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1327", source="ORDO:1327/e"} +xref: UMLS:C2931679 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1327", source="Orphanet:1327/e"} is_a: MONDO:0000111 {source="DC-OMIM:211910"} ! camptodactyly syndrome, Guadalajara is_a: MONDO:0015161 {source="Orphanet:1327", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1327", source="Orphanet:1327/inferred"} ! disorder of development or morphogenesis @@ -165289,14 +165257,14 @@ synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [OMIM:211920] synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [OMIM:211920] synonym: "Guadalajara camptodactyly syndrome type II" RELATED [GARD:0001068] xref: GARD:0001068 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:1326/attributed", source="ORDO:1326/ntbt", source="Orphanet:1326"} -xref: MESH:C537971 {source="ORDO:1326/e", source="Orphanet:1326"} +xref: ICD10CM:Q87.1 {source="Orphanet:1326", source="Orphanet:1326/attributed", source="Orphanet:1326/ntbt"} +xref: MESH:C537971 {source="Orphanet:1326", source="Orphanet:1326/e"} xref: MESH:C567138 {source="MONDO:equivalentTo"} -xref: OMIM:211920 {source="MONDO:equivalentTo", source="ORDO:1326/e", source="Orphanet:1326"} +xref: OMIM:211920 {source="MONDO:equivalentTo", source="Orphanet:1326", source="Orphanet:1326/e"} xref: Orphanet:1326 {source="MONDO:equivalentTo", source="OMIM:211920"} xref: SCTID:720603002 {source="MONDO:equivalentTo"} xref: UMLS:C2673861 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1326", source="OMIM:211920"} -xref: UMLS:C2931680 {source="ORDO:1326/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1326"} +xref: UMLS:C2931680 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1326", source="Orphanet:1326/e"} is_a: MONDO:0000111 {source="DC-OMIM:211920"} ! camptodactyly syndrome, Guadalajara is_a: MONDO:0015161 {source="Orphanet:1326", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 ! dysostosis @@ -165335,12 +165303,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3292"} synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [OMIM:211960] synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960] xref: GARD:0005128 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.0 {source="ORDO:3292/attributed", source="ORDO:3292/ntbt", source="Orphanet:3292"} -xref: MESH:C536953 {source="MONDO:equivalentTo", source="ORDO:3292/e", source="Orphanet:3292"} -xref: OMIM:211960 {source="MONDO:equivalentTo", source="ORDO:3292/e", source="Orphanet:3292"} +xref: ICD10CM:Q74.0 {source="Orphanet:3292/attributed", source="Orphanet:3292/ntbt", source="Orphanet:3292"} +xref: MESH:C536953 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"} +xref: OMIM:211960 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"} xref: Orphanet:3292 {source="MONDO:equivalentTo", source="OMIM:211960"} xref: SCTID:719946008 {source="MONDO:equivalentTo"} -xref: UMLS:C1859356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3292/e", source="OMIM:211960", source="Orphanet:3292"} +xref: UMLS:C1859356 {source="Orphanet:3292/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:211960", source="Orphanet:3292"} is_a: MONDO:0020120 {source="Orphanet:3292", source="Orphanet:3292/inferred"} ! skeletal muscle disorder property_value: confidence "9.0" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome xsd:anyURI {source="GARD:0005128"} @@ -165440,7 +165408,7 @@ xref: OMIM:211990 {source="MONDO:equivalentTo"} xref: Orphanet:140 {source="MONDO:subClassOf", source="OMIM:211990"} xref: UMLS:C1859354 {source="OMIM:211990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease -relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C537977", source="ORDO:140/btnt"} ! campomelic dysplasia +relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C537977", source="Orphanet:140/btnt"} ! campomelic dysplasia property_value: confidence "4.197500000000002" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type xsd:anyURI {source="GARD:0001071"} @@ -165458,8 +165426,8 @@ synonym: "CARD9 deficiency" RELATED [GARD:0001077] synonym: "CARD9 immunodeficiency" RELATED [OMIM:212050] synonym: "invasive candidiasis-deep dermatophytosis syndrome" EXACT [Orphanet:457088] xref: GARD:0001077 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D84.8 {source="ORDO:457088/attributed", source="ORDO:457088/ntbt", source="Orphanet:457088"} -xref: OMIM:212050 {source="MONDO:equivalentTo", source="ORDO:457088/e", source="Orphanet:457088"} +xref: ICD10CM:D84.8 {source="Orphanet:457088/attributed", source="Orphanet:457088/ntbt", source="Orphanet:457088"} +xref: OMIM:212050 {source="Orphanet:457088/e", source="MONDO:equivalentTo", source="Orphanet:457088"} xref: Orphanet:457088 {source="MONDO:equivalentTo"} xref: UMLS:C1859353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212050"} is_a: MONDO:0015279 {source="OMIM:212050"} ! chronic mucocutaneous candidiasis @@ -165501,10 +165469,10 @@ synonym: "PMM2-CDG" EXACT CLINGEN_PREFERRED [] synonym: "PMM2-CDG (CDG-Ia)" RELATED [GARD:0009826] xref: DOID:0080552 {source="MONDO:equivalentTo"} xref: GARD:0009826 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79318", source="ORDO:79318/attributed", source="ORDO:79318/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:79318/attributed", source="Orphanet:79318/ntbt", source="Orphanet:79318"} xref: MESH:C535739 {source="MONDO:equivalentTo"} xref: NCIT:C126868 {source="MONDO:equivalentTo"} -xref: OMIM:212065 {source="ORDO:79318/e", source="Orphanet:79318", source="MONDO:equivalentTo"} +xref: OMIM:212065 {source="Orphanet:79318", source="MONDO:equivalentTo", source="Orphanet:79318/e"} xref: Orphanet:79318 {source="OMIM:212065", source="MONDO:equivalentTo"} xref: SCTID:459063003 {source="MONDO:equivalentTo"} xref: UMLS:C0349653 {source="OMIM:212065", source="NCBI:mim2gene_medline", source="Orphanet:79318", source="MONDO:equivalentTo", source="NCIT:C126868"} @@ -165545,9 +165513,9 @@ synonym: "MGAT2-CDG (CDG-IIa)" RELATED [GARD:0009828] synonym: "N-acetylglucosaminyltransferase 2 deficiency" EXACT [Orphanet:79329] xref: DOID:0070253 {source="MONDO:equivalentTo"} xref: GARD:0009828 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79329", source="ORDO:79329/attributed", source="ORDO:79329/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:79329/attributed", source="Orphanet:79329/ntbt", source="Orphanet:79329"} xref: MESH:C535752 {source="MONDO:equivalentTo"} -xref: OMIM:212066 {source="ORDO:79329/e", source="Orphanet:79329", source="MONDO:equivalentTo"} +xref: OMIM:212066 {source="Orphanet:79329", source="MONDO:equivalentTo", source="Orphanet:79329/e"} xref: Orphanet:79329 {source="OMIM:212066", source="MONDO:equivalentTo"} xref: SCTID:724142005 {source="MONDO:equivalentTo"} xref: UMLS:C0349654 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -165602,7 +165570,7 @@ xref: MESH:C565884 {source="MONDO:equivalentTo"} xref: OMIM:212080 {source="MONDO:equivalentTo"} xref: Orphanet:137675 {source="MONDO:subClassOf", source="OMIM:212080"} xref: UMLS:C1859332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212080"} -is_a: MONDO:0010771 {source="ORDO:137675/btnt"} ! histiocytoid cardiomyopathy +is_a: MONDO:0010771 {source="Orphanet:137675/btnt"} ! histiocytoid cardiomyopathy property_value: confidence "2.4105263157894736" xsd:double [Term] @@ -165656,12 +165624,12 @@ synonym: "Malouf syndrome" EXACT [OMIM:212112, Orphanet:2229] synonym: "Najjar syndrome" EXACT [OMIM:212112, Orphanet:2229] xref: DOID:0111584 {source="MONDO:equivalentTo"} xref: GARD:0003373 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2229/attributed", source="ORDO:2229/ntbt", source="Orphanet:2229"} -xref: OMIM:212112 {source="MONDO:equivalentTo", source="Orphanet:2229", source="ORDO:2229/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2229", source="Orphanet:2229/attributed", source="Orphanet:2229/ntbt"} +xref: OMIM:212112 {source="MONDO:equivalentTo", source="Orphanet:2229", source="Orphanet:2229/e"} xref: Orphanet:2229 {source="MONDO:equivalentTo", source="OMIM:212112"} xref: SCTID:719451006 {source="MONDO:equivalentTo"} -xref: UMLS:C0796031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="ORDO:2229/e"} -xref: UMLS:C0796083 {source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="ORDO:2229/e"} +xref: UMLS:C0796031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="Orphanet:2229/e"} +xref: UMLS:C0796083 {source="MONDO:equivalentTo", source="OMIM:212112", source="Orphanet:2229", source="Orphanet:2229/e"} is_a: MONDO:0003150 {source="GARD:0003373"} ! male reproductive system disorder is_a: MONDO:0005151 {source="GARD:0003373"} ! endocrine system disorder is_a: MONDO:0005267 {source="GARD:0003373"} ! heart disorder @@ -165692,12 +165660,12 @@ synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [OMIM:212135] synonym: "heart defect and limb shortening syndrome" EXACT [] synonym: "heart defects and limb shortening" RELATED [GARD:0002613] xref: GARD:0002613 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:1354", source="ORDO:1354/attributed", source="ORDO:1354/ntbt"} -xref: MESH:C535850 {source="Orphanet:1354", source="ORDO:1354/e", source="MONDO:equivalentTo"} -xref: OMIM:212135 {source="Orphanet:1354", source="ORDO:1354/e", source="GARD:0002613", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:1354", source="Orphanet:1354/attributed", source="Orphanet:1354/ntbt"} +xref: MESH:C535850 {source="Orphanet:1354", source="MONDO:equivalentTo", source="Orphanet:1354/e"} +xref: OMIM:212135 {source="Orphanet:1354", source="GARD:0002613", source="MONDO:equivalentTo", source="Orphanet:1354/e"} xref: Orphanet:1354 {source="MONDO:equivalentTo", source="OMIM:212135"} xref: SCTID:721009008 {source="MONDO:equivalentTo"} -xref: UMLS:C1859327 {source="Orphanet:1354", source="ORDO:1354/e", source="NCBI:mim2gene_medline", source="GARD:0002613", source="MONDO:equivalentTo", source="OMIM:212135"} +xref: UMLS:C1859327 {source="Orphanet:1354", source="NCBI:mim2gene_medline", source="GARD:0002613", source="MONDO:equivalentTo", source="OMIM:212135", source="Orphanet:1354/e"} is_a: MONDO:0005453 {source="MESH:C535850", source="linkedlifedata"} ! congenital heart disease is_a: MONDO:0006025 {source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:1354", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -165720,13 +165688,13 @@ synonym: "CARNITINE-acylcarnitine translocase deficiency" RELATED [OMIM:212138] synonym: "carnitine-acylcarnitine translocase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:212138] xref: DOID:0111585 {source="MONDO:equivalentTo"} xref: GARD:0001123 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="Orphanet:159", source="ORDO:159/attributed", source="ORDO:159/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:159", source="Orphanet:159/attributed", source="Orphanet:159/ntbt"} xref: MESH:C562812 {source="MONDO:equivalentTo"} xref: NCIT:C133086 {source="MONDO:equivalentTo"} -xref: OMIM:212138 {source="Orphanet:159", source="MONDO:equivalentTo", source="ORDO:159/e"} +xref: OMIM:212138 {source="Orphanet:159", source="MONDO:equivalentTo", source="Orphanet:159/e"} xref: Orphanet:159 {source="MONDO:equivalentTo", source="OMIM:212138"} xref: SCTID:238003000 {source="MONDO:equivalentTo"} -xref: UMLS:C0342791 {source="Orphanet:159", source="NCIT:C133086", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212138", source="ORDO:159/e"} +xref: UMLS:C0342791 {source="Orphanet:159", source="NCIT:C133086", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:159/e", source="OMIM:212138"} is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis @@ -165763,14 +165731,14 @@ synonym: "systemic primary carnitine deficiency" RELATED [Orphanet:158] synonym: "systemic primary carnitine deficiency disease" EXACT CLINGEN_PREFERRED [] xref: DOID:14365 {source="MONDO:equivalentTo"} xref: GARD:0005104 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.3 {source="Orphanet:158", source="ORDO:158/attributed", source="ORDO:158/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:158", source="Orphanet:158/attributed", source="Orphanet:158/ntbt"} xref: ICD10CM:E71.41 {source="DOID:14365"} xref: ICD10CM:E71.42 {source="DOID:14365"} xref: ICD9:277.81 {source="DOID:14365"} xref: ICD9:277.82 {source="DOID:14365"} xref: MESH:C536778 {source="MONDO:equivalentTo", source="DOID:14365"} xref: NCIT:C98864 {source="MONDO:equivalentTo", source="DOID:14365"} -xref: OMIM:212140 {source="Orphanet:158", source="MONDO:equivalentTo", source="DOID:14365", source="ORDO:158/e"} +xref: OMIM:212140 {source="Orphanet:158", source="MONDO:equivalentTo", source="Orphanet:158/e", source="DOID:14365"} xref: Orphanet:158 {source="OMIM:212140", source="MONDO:equivalentTo"} xref: SCTID:21764004 {source="MONDO:equivalentTo", source="DOID:14365"} xref: UMLS:C0342788 {source="OMIM:212140", source="Orphanet:158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:14365"} @@ -165804,12 +165772,12 @@ synonym: "Carnosinase deficiency" EXACT [OMIM:212200, Orphanet:1361] synonym: "carnosinemia" EXACT [OMIM:212200] synonym: "homocarnosinosis" RELATED AMBIGUOUS [Orphanet:1361] xref: GARD:0006001 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E70.8 {source="ORDO:1361/attributed", source="ORDO:1361/ntbt", source="Orphanet:1361"} +xref: ICD10CM:E70.8 {source="Orphanet:1361/attributed", source="Orphanet:1361/ntbt", source="Orphanet:1361"} xref: NCIT:C125661 {source="MONDO:equivalentTo"} -xref: OMIM:212200 {source="MONDO:equivalentTo", source="Orphanet:1361", source="ORDO:1361/e"} +xref: OMIM:212200 {source="Orphanet:1361/e", source="MONDO:equivalentTo", source="Orphanet:1361"} xref: Orphanet:1361 {source="MONDO:equivalentTo", source="OMIM:212200"} xref: SCTID:410052008 {source="MONDO:equivalentTo"} -xref: UMLS:C0268632 {source="MONDO:subClassOf", source="Orphanet:1361", source="ORDO:1361/e"} +xref: UMLS:C0268632 {source="MONDO:subClassOf", source="Orphanet:1361/e", source="Orphanet:1361"} xref: UMLS:C3495554 {source="MONDO:subClassOf", source="OMIM:212200", source="Orphanet:1361"} xref: UMLS:C3495555 {source="NCIT:C125661", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212200", source="Orphanet:1361"} is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125661", source="Orphanet:1361/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease @@ -165831,13 +165799,13 @@ synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATE synonym: "Sengers syndrome" EXACT CLINGEN_PREFERRED [OMIM:212350, Orphanet:1369] xref: DOID:0080132 {source="MONDO:equivalentTo"} xref: GARD:0001142 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1369/attributed", source="ORDO:1369/ntbt", source="Orphanet:1369"} -xref: MESH:C538280 {source="MONDO:equivalentTo", source="Orphanet:1369", source="ORDO:1369/e"} -xref: OMIM:212350 {source="DOID:0080132", source="MONDO:equivalentTo", source="Orphanet:1369", source="ORDO:1369/e"} -xref: OMIM:615418 {source="ORDO:1369/btnt", source="Orphanet:1369", source="MONDO:superClassOf"} +xref: ICD10CM:Q87.8 {source="Orphanet:1369", source="Orphanet:1369/attributed", source="Orphanet:1369/ntbt"} +xref: MESH:C538280 {source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} +xref: OMIM:212350 {source="DOID:0080132", source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} +xref: OMIM:615418 {source="Orphanet:1369", source="MONDO:superClassOf", source="Orphanet:1369/btnt"} xref: Orphanet:1369 {source="OMIM:212350", source="MONDO:equivalentTo"} xref: SCTID:717812000 {source="MONDO:equivalentTo"} -xref: UMLS:C1859317 {source="OMIM:212350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1369", source="ORDO:1369/e"} +xref: UMLS:C1859317 {source="OMIM:212350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"} is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0016801 {source="Orphanet:1369"} ! mitochondrial substrate carrier disorder is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -165866,12 +165834,12 @@ synonym: "Ppkca, Wallis type" RELATED [OMIM:212360] synonym: "PPKCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212360] xref: DOID:0111245 {source="MONDO:equivalentTo"} xref: GARD:0001139 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:1366", source="ORDO:1366/attributed", source="ORDO:1366/ntbt"} -xref: ICD10CM:Q84.0 {source="Orphanet:1366", source="ORDO:1366/attributed", source="ORDO:1366/ntbt"} -xref: MESH:C535336 {source="ORDO:1366/e", source="Orphanet:1366", source="MONDO:equivalentTo"} -xref: OMIM:212360 {source="ORDO:1366/e", source="Orphanet:1366", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} +xref: ICD10CM:Q84.0 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} +xref: MESH:C535336 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} +xref: OMIM:212360 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} xref: Orphanet:1366 {source="OMIM:212360", source="MONDO:equivalentTo"} -xref: UMLS:C1859316 {source="OMIM:212360", source="ORDO:1366/e", source="NCBI:mim2gene_medline", source="Orphanet:1366", source="MONDO:equivalentTo"} +xref: UMLS:C1859316 {source="OMIM:212360", source="NCBI:mim2gene_medline", source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:1366"} ! ectodermal dysplasia syndrome relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:212360", source="Orphanet:1366"} ! Autosomal recessive inheritance @@ -165886,10 +165854,10 @@ subset: ordo_disease {source="Orphanet:1376"} synonym: "cataract and congenital ichthyosis" RELATED [OMIM:212400] synonym: "Syndermotic cataract and congenital ichthyosis" RELATED [GARD:0001145] xref: GARD:0001145 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: MESH:C538281 {source="Orphanet:1376", source="ORDO:1376/e", source="MONDO:equivalentTo"} -xref: OMIM:212400 {source="Orphanet:1376", source="ORDO:1376/e", source="MONDO:equivalentTo"} +xref: MESH:C538281 {source="Orphanet:1376", source="MONDO:equivalentTo", source="Orphanet:1376/e"} +xref: OMIM:212400 {source="Orphanet:1376", source="MONDO:equivalentTo", source="Orphanet:1376/e"} xref: Orphanet:1376 {source="MONDO:equivalentObsolete", source="OMIM:212400"} -xref: UMLS:C1859315 {source="Orphanet:1376", source="ORDO:1376/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212400"} +xref: UMLS:C1859315 {source="Orphanet:1376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1376/e", source="OMIM:212400"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0020225 ! syndromic cataract property_value: confidence "3.533333333333334" xsd:double @@ -165919,7 +165887,7 @@ xref: UMLS:C0220721 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:212500 xref: UMLS:C1876167 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:212500"} xref: UMLS:C2931791 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0001150"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110243", source="MESH:C538286", source="MONDO:Redundant", source="OMIM:212500", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21244 ! LEMD2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21244 {source="mim2gene_medgen"} ! LEMD2 @@ -165938,18 +165906,18 @@ synonym: "cerebrooculofacioskeletal syndrome" EXACT [MONDO:0000010, Orphanet:146 synonym: "COFS" EXACT ABBREVIATION [] synonym: "Pena-Shokeir syndrome type 2" EXACT [Orphanet:1466] xref: GARD:0006027 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:1466", source="ORDO:1466/attributed", source="ORDO:1466/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:1466/attributed", source="Orphanet:1466/ntbt", source="Orphanet:1466"} xref: NCIT:C3817 {source="MONDO:cjm", source="MONDO:equivalentTo"} -xref: OMIM:214150 {source="Orphanet:1466", source="ORDO:1466/btnt", source="MONDO:superClassOf"} -xref: OMIM:278780 {source="Orphanet:1466", source="ORDO:1466/btnt", source="MONDO:superClassOf"} -xref: OMIM:610756 {source="Orphanet:1466", source="ORDO:1466/btnt", source="MONDO:superClassOf"} -xref: OMIM:610758 {source="Orphanet:1466", source="ORDO:1466/btnt", source="MONDO:superClassOf"} -xref: OMIM:616570 {source="Orphanet:1466", source="ORDO:1466/btnt", source="MONDO:superClassOf"} +xref: OMIM:214150 {source="Orphanet:1466/btnt", source="Orphanet:1466", source="MONDO:superClassOf"} +xref: OMIM:278780 {source="Orphanet:1466/btnt", source="Orphanet:1466", source="MONDO:superClassOf"} +xref: OMIM:610756 {source="Orphanet:1466/btnt", source="Orphanet:1466", source="MONDO:superClassOf"} +xref: OMIM:610758 {source="Orphanet:1466/btnt", source="Orphanet:1466", source="MONDO:superClassOf"} +xref: OMIM:616570 {source="Orphanet:1466/btnt", source="Orphanet:1466", source="MONDO:superClassOf"} xref: OMIMPS:214150 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="MONDO:equivalentTo"} -xref: UMLS:C0220722 {source="NCIT:C3817", source="Orphanet:1466", source="ORDO:1466/e", source="MONDO:equivalentTo"} -xref: UMLS:C1859312 {source="Orphanet:1466", source="NCBI:mim2gene_medline", source="ORDO:1466/e", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931277 {source="Orphanet:1466", source="ORDO:1466/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0220722 {source="NCIT:C3817", source="Orphanet:1466", source="MONDO:equivalentTo", source="Orphanet:1466/e"} +xref: UMLS:C1859312 {source="Orphanet:1466", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1466/e"} +xref: UMLS:C2931277 {source="Orphanet:1466", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1466/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C3817", source="indirect"} ! syndromic disease is_a: MONDO:0016073 {source="Orphanet:1466"} ! syndromic microphthalmia relationship: disease_has_basis_in_disruption_of GO:0006281 {source="MONDO:cjm"} ! DNA repair @@ -165964,9 +165932,9 @@ subset: ordo_disease {source="Orphanet:435930"} synonym: "ODRMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212550] synonym: "optic DISC anomalies with retinal and/or macular dystrophy" RELATED [MONDO:Lexical, OMIM:212550] xref: DOID:0080635 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q14.8 {source="Orphanet:435930", source="ORDO:435930/attributed", source="ORDO:435930/ntbt"} +xref: ICD10CM:Q14.8 {source="Orphanet:435930/attributed", source="Orphanet:435930/ntbt", source="Orphanet:435930"} xref: MESH:C565876 {source="MONDO:equivalentTo"} -xref: OMIM:212550 {source="ORDO:435930/e", source="Orphanet:435930", source="MONDO:equivalentTo"} +xref: OMIM:212550 {source="Orphanet:435930", source="MONDO:equivalentTo", source="Orphanet:435930/e"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:212550"} xref: Orphanet:435930 {source="MONDO:equivalentObsolete"} xref: UMLS:C1859311 {source="NCBI:mim2gene_medline", source="OMIM:212550", source="MONDO:notFoundInDiseaseSubset"} @@ -165986,11 +165954,11 @@ synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [OMIM:212710] synonym: "polyneuropathy, cataract, deafness syndrome" RELATED [GARD:0001141] synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [OMIM:212710] xref: GARD:0001141 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="ORDO:1368/attributed", source="ORDO:1368/ntbt", source="Orphanet:1368"} -xref: MESH:C538283 {source="ORDO:1368/e", source="MONDO:equivalentTo", source="Orphanet:1368"} -xref: OMIM:212710 {source="ORDO:1368/e", source="MONDO:equivalentTo", source="Orphanet:1368"} +xref: ICD10CM:G11.2 {source="Orphanet:1368", source="Orphanet:1368/attributed", source="Orphanet:1368/ntbt"} +xref: MESH:C538283 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"} +xref: OMIM:212710 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"} xref: Orphanet:1368 {source="MONDO:equivalentTo", source="OMIM:212710"} -xref: UMLS:C0796123 {source="ORDO:1368/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1368", source="OMIM:212710"} +xref: UMLS:C0796123 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1368", source="OMIM:212710", source="Orphanet:1368/e"} is_a: MONDO:0019589 {source="Orphanet:1368"} ! syndromic genetic hearing loss is_a: MONDO:0100309 {source="Orphanet:1368"} ! hereditary ataxia property_value: confidence "3.533333333333334" xsd:double @@ -166040,12 +166008,12 @@ synonym: "syndactyly type 7" EXACT [DOID:0090015, Orphanet:3258] synonym: "syndactyly, type 7" RELATED [OMIM:212780] xref: DOID:0090015 {source="MONDO:equivalentTo"} xref: GARD:0005084 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.4 {source="Orphanet:3258", source="DOID:0090015", source="ORDO:3258/attributed", source="ORDO:3258/ntbt"} +xref: ICD10CM:Q78.4 {source="Orphanet:3258/attributed", source="Orphanet:3258/ntbt", source="Orphanet:3258", source="DOID:0090015"} xref: MESH:C538150 {source="MONDO:equivalentTo"} -xref: OMIM:212780 {source="ORDO:3258/e", source="Orphanet:3258", source="MONDO:equivalentTo", source="DOID:0090015"} +xref: OMIM:212780 {source="Orphanet:3258", source="MONDO:equivalentTo", source="DOID:0090015", source="Orphanet:3258/e"} xref: Orphanet:3258 {source="OMIM:212780", source="MONDO:equivalentTo", source="DOID:0090015"} xref: SCTID:720633009 {source="MONDO:equivalentTo"} -xref: UMLS:C1859309 {source="OMIM:212780", source="ORDO:3258/e", source="NCBI:mim2gene_medline", source="Orphanet:3258", source="MONDO:equivalentTo"} +xref: UMLS:C1859309 {source="OMIM:212780", source="NCBI:mim2gene_medline", source="Orphanet:3258", source="MONDO:equivalentTo", source="Orphanet:3258/e"} is_a: MONDO:0019054 {source="Orphanet:3258"} ! congenital limb malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6696 {source="mim2gene_medgen"} ! LRP4 property_value: confidence "59.00000000000013" xsd:double @@ -166079,12 +166047,12 @@ synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [OMIM:212835] synonym: "cerebellar ataxia ectodermal dysplasia" RELATED [GARD:0001189] synonym: "ectodermal dysplasia and cerebellar ataxia" RELATED [GARD:0001189] xref: GARD:0001189 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="ORDO:1174/attributed", source="ORDO:1174/ntbt", source="Orphanet:1174"} -xref: MESH:C535350 {source="MONDO:equivalentTo", source="Orphanet:1174", source="ORDO:1174/e"} -xref: OMIM:212835 {source="MONDO:equivalentTo", source="Orphanet:1174", source="ORDO:1174/e"} +xref: ICD10CM:G11.1 {source="Orphanet:1174/attributed", source="Orphanet:1174/ntbt", source="Orphanet:1174"} +xref: MESH:C535350 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"} +xref: OMIM:212835 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"} xref: Orphanet:1174 {source="MONDO:equivalentTo", source="OMIM:212835"} xref: SCTID:715371006 {source="MONDO:equivalentTo"} -xref: UMLS:C1859306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1174", source="OMIM:212835", source="ORDO:1174/e"} +xref: UMLS:C1859306 {source="Orphanet:1174/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1174", source="OMIM:212835"} is_a: MONDO:0019287 {source="MESH:C535350", source="Orphanet:1174", source="linkedlifedata"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double @@ -166104,10 +166072,10 @@ synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [O synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [OMIM:212840] xref: DOID:0111587 {source="MONDO:equivalentTo"} xref: GARD:0003314 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:1173/attributed", source="ORDO:1173/ntbt", source="Orphanet:1173"} +xref: ICD10CM:G11.8 {source="Orphanet:1173/attributed", source="Orphanet:1173/ntbt", source="Orphanet:1173"} xref: MESH:C565870 {source="MONDO:equivalentTo"} -xref: OMIM:212840 {source="MONDO:equivalentTo", source="ORDO:1173/e", source="Orphanet:1173"} -xref: OMIM:605672 {source="MONDO:superClassOf", source="ORDO:1173/btnt", source="Orphanet:1173"} +xref: OMIM:212840 {source="Orphanet:1173/e", source="MONDO:equivalentTo", source="Orphanet:1173"} +xref: OMIM:605672 {source="Orphanet:1173/btnt", source="MONDO:superClassOf", source="Orphanet:1173"} xref: Orphanet:1173 {source="MONDO:equivalentTo", source="OMIM:212840"} xref: UMLS:C1859305 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212840", source="Orphanet:1173"} is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease @@ -166147,13 +166115,13 @@ synonym: "EOCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212895, Orphanet:1177] synonym: "EOCARR" EXACT ABBREVIATION [Orphanet:1177] synonym: "Harding ataxia" EXACT [Orphanet:1177] xref: GARD:0002600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:1177", source="ORDO:1177/attributed", source="ORDO:1177/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:1177/attributed", source="Orphanet:1177/ntbt", source="Orphanet:1177"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535633 {source="ORDO:1177/e", source="Orphanet:1177", source="MONDO:equivalentTo"} -xref: OMIM:212895 {source="ORDO:1177/e", source="Orphanet:1177", source="MONDO:equivalentTo"} +xref: MESH:C535633 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"} +xref: OMIM:212895 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"} xref: Orphanet:1177 {source="MONDO:equivalentTo", source="OMIM:212895"} xref: SCTID:230228004 {source="MONDO:equivalentTo"} -xref: UMLS:C0393520 {source="ORDO:1177/e", source="Orphanet:1177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212895"} +xref: UMLS:C0393520 {source="Orphanet:1177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212895", source="Orphanet:1177/e"} is_a: MONDO:0020046 {source="Orphanet:1177"} ! autosomal recessive degenerative and progressive cerebellar ataxia property_value: confidence "3.7222222222222223" xsd:double @@ -166172,16 +166140,16 @@ synonym: "near total absence of cerebellum" EXACT [Orphanet:1398] synonym: "subtotal absence of cerebellum" EXACT [Orphanet:1398] xref: DOID:0070338 {source="MONDO:equivalentTo"} xref: GARD:0001194 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:1398", source="ORDO:1398/ntbt"} -xref: MedDRA:10008033 {source="Orphanet:1398", source="ORDO:1398/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:1398", source="Orphanet:1398/ntbt"} +xref: MedDRA:10008033 {source="Orphanet:1398", source="Orphanet:1398/e"} xref: MESH:C562568 {source="MONDO:equivalentTo"} xref: NCIT:C98890 {source="MONDO:equivalentTo"} xref: OMIM:213000 {source="MONDO:equivalentTo"} xref: Orphanet:1398 {source="MONDO:equivalentTo"} xref: Orphanet:2246 {source="OMIM:213000", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: SCTID:16026008 {source="MONDO:equivalentTo"} -xref: UMLS:C0266470 {source="OMIM:213000", source="Orphanet:1398", source="ORDO:1398/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0344488 {source="Orphanet:1398", source="ORDO:1398/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266470 {source="OMIM:213000", source="Orphanet:1398", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1398/e"} +xref: UMLS:C0344488 {source="Orphanet:1398", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1398/e"} is_a: MONDO:0002320 {source="NCIT:C98890", source="indirect"} ! congenital nervous system disorder is_a: MONDO:0017114 {source="Orphanet:1398"} ! global cerebellar malformation relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -166196,11 +166164,11 @@ subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:85186"} synonym: "cerebellar hypoplasia with endosteal sclerosis" RELATED [OMIM:213002] xref: GARD:0001195 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:85186/attributed", source="ORDO:85186/ntbt", source="Orphanet:85186"} -xref: MESH:C535353 {source="MONDO:equivalentTo", source="ORDO:85186/e", source="Orphanet:85186"} -xref: OMIM:213002 {source="MONDO:equivalentTo", source="ORDO:85186/e", source="Orphanet:85186"} +xref: ICD10CM:Q87.8 {source="Orphanet:85186/attributed", source="Orphanet:85186/ntbt", source="Orphanet:85186"} +xref: MESH:C535353 {source="Orphanet:85186/e", source="MONDO:equivalentTo", source="Orphanet:85186"} +xref: OMIM:213002 {source="Orphanet:85186/e", source="MONDO:equivalentTo", source="Orphanet:85186"} xref: Orphanet:85186 {source="OMIM:213002", source="MONDO:equivalentTo"} -xref: UMLS:C1859301 {source="OMIM:213002", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85186/e", source="Orphanet:85186"} +xref: UMLS:C1859301 {source="OMIM:213002", source="NCBI:mim2gene_medline", source="Orphanet:85186/e", source="MONDO:equivalentTo", source="Orphanet:85186"} is_a: MONDO:0019117 {source="MONDO:Entailed", source="Orphanet:85186", source="Orphanet:85186/inferred"} ! genetic nervous system disorder is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_feature HP:0011001 {source="Orphanet:85186"} ! Increased bone mineral density @@ -166220,7 +166188,7 @@ synonym: "Thompson Baraitser syndrome" RELATED [GARD:0005177] synonym: "Thompson-Baraitser syndrome" EXACT [Orphanet:2031] xref: GARD:0005177 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MESH:C565867 {source="MONDO:equivalentTo"} -xref: OMIM:213010 {source="MONDO:equivalentTo", source="ORDO:2031/e", source="Orphanet:2031"} +xref: OMIM:213010 {source="Orphanet:2031/e", source="MONDO:equivalentTo", source="Orphanet:2031"} xref: Orphanet:2031 {source="OMIM:213010", source="MONDO:equivalentTo"} xref: UMLS:C1859300 {source="OMIM:213010", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931226 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2031"} @@ -166266,9 +166234,9 @@ synonym: "SCAR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213200, Orphanet:1170] synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200] xref: DOID:0080061 {source="MONDO:equivalentTo"} xref: GARD:0001199 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.0 {source="ORDO:1170/attributed", source="ORDO:1170/ntbt", source="Orphanet:1170"} +xref: ICD10CM:G11.0 {source="Orphanet:1170", source="Orphanet:1170/attributed", source="Orphanet:1170/ntbt"} xref: MESH:C565865 {source="MONDO:equivalentTo"} -xref: OMIM:213200 {source="MONDO:equivalentTo", source="Orphanet:1170", source="ORDO:1170/e", source="DOID:0080061"} +xref: OMIM:213200 {source="Orphanet:1170/e", source="MONDO:equivalentTo", source="Orphanet:1170", source="DOID:0080061"} xref: Orphanet:1170 {source="OMIM:213200", source="MONDO:equivalentTo"} xref: SCTID:715369006 {source="MONDO:equivalentTo"} xref: UMLS:C1859298 {source="OMIM:213200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1170"} @@ -166358,17 +166326,17 @@ synonym: "PFBC" EXACT ABBREVIATION [Orphanet:1980] synonym: "primary familial brain calcification" EXACT [Orphanet:1980] xref: DOID:0060230 {source="MONDO:equivalentTo"} xref: HP:0002135 {source="DOID:0060230", source="MONDO:otherHierarchy"} -xref: ICD10CM:G23.8 {source="Orphanet:1980", source="ORDO:1980/inclusion", source="ORDO:1980/ntbt"} +xref: ICD10CM:G23.8 {source="Orphanet:1980/ntbt", source="Orphanet:1980", source="Orphanet:1980/inclusion"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059626 {source="ORDO:1980/e", source="Orphanet:1980"} +xref: MedDRA:10059626 {source="Orphanet:1980", source="Orphanet:1980/e"} xref: MESH:C536275 {source="DOID:0060230", source="MONDO:equivalentTo"} xref: OMIM:114100 {source="DOID:0060230", source="MONDO:superClassOf"} -xref: OMIM:213600 {source="ORDO:1980/e", source="DOID:0060230", source="Orphanet:1980", source="MONDO:superClassOf"} -xref: OMIM:606656 {source="DOID:0060230", source="Orphanet:1980", source="MONDO:superClassOf", source="ORDO:1980/btnt"} -xref: OMIM:615007 {source="DOID:0060230", source="Orphanet:1980", source="MONDO:superClassOf", source="ORDO:1980/btnt"} -xref: OMIM:615483 {source="DOID:0060230", source="Orphanet:1980", source="MONDO:superClassOf", source="ORDO:1980/btnt"} -xref: OMIM:616413 {source="Orphanet:1980", source="MONDO:superClassOf", source="ORDO:1980/btnt"} +xref: OMIM:213600 {source="DOID:0060230", source="Orphanet:1980", source="MONDO:superClassOf", source="Orphanet:1980/e"} +xref: OMIM:606656 {source="DOID:0060230", source="Orphanet:1980/btnt", source="Orphanet:1980", source="MONDO:superClassOf"} +xref: OMIM:615007 {source="DOID:0060230", source="Orphanet:1980/btnt", source="Orphanet:1980", source="MONDO:superClassOf"} +xref: OMIM:615483 {source="DOID:0060230", source="Orphanet:1980/btnt", source="Orphanet:1980", source="MONDO:superClassOf"} +xref: OMIM:616413 {source="Orphanet:1980/btnt", source="Orphanet:1980", source="MONDO:superClassOf"} xref: OMIMPS:213600 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="MONDO:equivalentTo", source="OMIM:213600"} xref: SCTID:110997000 {source="DOID:0060230", source="MONDO:equivalentTo"} @@ -166395,13 +166363,13 @@ synonym: "CTx" EXACT [MONDO:Lexical, OMIM:213700, Orphanet:909] synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909] xref: DOID:4810 {source="MONDO:equivalentTo"} xref: GARD:0005622 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.5 {source="ORDO:909/ntbt", source="ORDO:909/inclusion", source="Orphanet:909"} -xref: MESH:D019294 {source="MONDO:equivalentTo", source="DOID:4810", source="ORDO:909/e", source="Orphanet:909"} +xref: ICD10CM:E75.5 {source="Orphanet:909/ntbt", source="Orphanet:909/inclusion", source="Orphanet:909"} +xref: MESH:D019294 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"} xref: NCIT:C84628 {source="MONDO:equivalentTo", source="DOID:4810"} -xref: OMIM:213700 {source="MONDO:equivalentTo", source="DOID:4810", source="ORDO:909/e", source="Orphanet:909"} +xref: OMIM:213700 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"} xref: Orphanet:909 {source="MONDO:equivalentTo", source="OMIM:213700"} xref: SCTID:63246000 {source="MONDO:equivalentTo", source="DOID:4810"} -xref: UMLS:C0238052 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:4810", source="NCIT:C84628", source="ORDO:909/e", source="OMIM:213700", source="Orphanet:909"} +xref: UMLS:C0238052 {source="NCBI:mim2gene_medline", source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="NCIT:C84628", source="OMIM:213700", source="Orphanet:909"} is_a: MONDO:0002615 {source="DOID:4810", source="linkedlifedata"} ! xanthomatosis is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0015905 {source="MONDO:Redundant", source="Orphanet:909"} ! syndromic dyslipidemia @@ -166440,7 +166408,7 @@ xref: MESH:C536318 {source="MONDO:equivalentTo"} xref: OMIM:213900 {source="MONDO:equivalentTo"} xref: Orphanet:702 {source="MONDO:subClassOf", source="OMIM:213900"} xref: UMLS:C1859258 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:213900"} -is_a: MONDO:0010714 {source="ORDO:702/btnt"} ! Pelizaeus-Merzbacher disease +is_a: MONDO:0010714 {source="Orphanet:702/btnt"} ! Pelizaeus-Merzbacher disease property_value: confidence "26.300000000000097" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease xsd:anyURI {source="GARD:0007348"} @@ -166467,9 +166435,9 @@ synonym: "craniofacial dysmorphism, skeletal anomalies, and mental retardation s synonym: "pascual-Castroviejo syndrome" RELATED [GARD:0001210] synonym: "pascual-Castroviejo syndrome type 1" EXACT [Orphanet:1394] xref: GARD:0001210 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:1394/attributed", source="ORDO:1394/ntbt", source="Orphanet:1394"} +xref: ICD10CM:Q87.5 {source="Orphanet:1394/attributed", source="Orphanet:1394/ntbt", source="Orphanet:1394"} xref: MESH:C565862 {source="MONDO:equivalentTo"} -xref: OMIM:213980 {source="GARD:0001210", source="MONDO:equivalentTo", source="Orphanet:1394", source="ORDO:1394/e"} +xref: OMIM:213980 {source="GARD:0001210", source="Orphanet:1394/e", source="MONDO:equivalentTo", source="Orphanet:1394"} xref: Orphanet:1394 {source="OMIM:213980", source="MONDO:equivalentTo"} xref: SCTID:720635002 {source="MONDO:equivalentTo"} xref: UMLS:C1859252 {source="NCBI:mim2gene_medline", source="OMIM:213980", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1394"} @@ -166576,7 +166544,7 @@ xref: OMIM:214300 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="MONDO:subClassOf", source="OMIM:214300"} xref: UMLS:C1859209 {source="OMIM:214300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001029 {source="MESH:C536888", source="MONDO:Redundant", source="OMIM:214300", source="indirect"} ! Klippel-Feil syndrome -is_a: MONDO:0016520 {source="MONDO:Redundant", source="ORDO:2345/btnt"} ! isolated Klippel-Feil syndrome +is_a: MONDO:0016520 {source="MONDO:Redundant", source="Orphanet:2345/btnt"} ! isolated Klippel-Feil syndrome intersection_of: MONDO:0016520 ! isolated Klippel-Feil syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7013 ! MEOX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7013 {source="mim2gene_medgen"} ! MEOX1 @@ -166607,8 +166575,8 @@ synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [OMIM:214370] synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" EXACT [Orphanet:90103] synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers" RELATED [OMIM:214370] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [OMIM:214370] -xref: ICD10CM:G60.0 {source="ORDO:90103/attributed", source="ORDO:90103/ntbt", source="Orphanet:90103"} -xref: OMIM:214370 {source="MONDO:equivalentTo", source="ORDO:90103/e", source="Orphanet:90103"} +xref: ICD10CM:G60.0 {source="Orphanet:90103", source="Orphanet:90103/attributed", source="Orphanet:90103/ntbt"} +xref: OMIM:214370 {source="MONDO:equivalentTo", source="Orphanet:90103", source="Orphanet:90103/e"} xref: Orphanet:90103 {source="MONDO:equivalentTo", source="OMIM:214370"} xref: SCTID:715666007 {source="MONDO:equivalentTo"} xref: UMLS:C1859206 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -166638,12 +166606,12 @@ synonym: "CMT4A" EXACT ABBREVIATION [DOID:0110185, MONDO:Lexical, OMIM:214400, O synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110185 {source="MONDO:equivalentTo"} xref: GARD:0001252 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99948/attributed", source="ORDO:99948/ntbt", source="DOID:0110185", source="Orphanet:99948"} -xref: MESH:C535419 {source="MONDO:equivalentTo", source="ORDO:99948/e", source="Orphanet:99948"} -xref: OMIM:214400 {source="MONDO:equivalentTo", source="ORDO:99948/e", source="DOID:0110185", source="Orphanet:99948"} +xref: ICD10CM:G60.0 {source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/attributed", source="Orphanet:99948/ntbt"} +xref: MESH:C535419 {source="MONDO:equivalentTo", source="Orphanet:99948", source="Orphanet:99948/e"} +xref: OMIM:214400 {source="MONDO:equivalentTo", source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/e"} xref: Orphanet:99948 {source="MONDO:equivalentTo", source="OMIM:214400", source="DOID:0110185"} xref: SCTID:715796006 {source="MONDO:equivalentTo"} -xref: UMLS:C1859198 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:214400", source="ORDO:99948/e", source="Orphanet:99948"} +xref: UMLS:C1859198 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:214400", source="Orphanet:99948", source="Orphanet:99948/e"} is_a: MONDO:0015626 {source="DOID:0110185/inferred", source="MESH:C535419", source="MONDO:Redundant", source="OMIM:214400", source="Orphanet:99948/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110185", source="MONDO:Redundant", source="Orphanet:99948", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 @@ -166673,12 +166641,12 @@ synonym: "partial albinism and primary neurologic disease without hemophagocytic synonym: "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" RELATED [GARD:0002566] xref: DOID:0060832 {source="MONDO:equivalentTo"} xref: GARD:0002566 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="ORDO:79476/attributed", source="ORDO:79476/ntbt", source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476"} -xref: MESH:C537301 {source="MONDO:equivalentTo", source="DOID:0060832", source="ORDO:79476/e", source="Orphanet:79476"} -xref: OMIM:214450 {source="MONDO:equivalentTo", source="DOID:0060832", source="ORDO:79476/e", source="Orphanet:79476"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476/attributed", source="Orphanet:79476/ntbt", source="Orphanet:79476"} +xref: MESH:C537301 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} +xref: OMIM:214450 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} xref: Orphanet:381 {source="MONDO:subClassOf", source="OMIM:214450"} xref: Orphanet:79476 {source="OMIM:214450", source="MONDO:equivalentTo", source="DOID:0060832"} -xref: UMLS:C1859194 {source="OMIM:214450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060832", source="ORDO:79476/e", source="Orphanet:79476"} +xref: UMLS:C1859194 {source="OMIM:214450", source="Orphanet:79476/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} is_a: MONDO:0015144 {source="Orphanet:79476"} ! brain inflammatory disease is_a: MONDO:0018306 {source="DC-OMIM:214450", source="DOID:0060832", source="MONDO:Redundant", source="OMIM:214450", source="Orphanet:79476"} ! Griscelli syndrome intersection_of: MONDO:0018306 ! Griscelli syndrome @@ -166705,18 +166673,18 @@ synonym: "Chédiak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167] xref: DOID:2935 {source="MONDO:equivalentTo"} xref: GARD:0006035 {source="MONDO:equivalentTo"} xref: ICD10CM:D72.0 {source="DOID:2935"} -xref: ICD10CM:E70.3 {source="ORDO:167/ntbt", source="MONDO:relatedTo", source="ORDO:167/inclusion", source="Orphanet:167"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:167/ntbt", source="Orphanet:167/inclusion", source="Orphanet:167"} xref: ICD10CM:E70.330 {source="MONDO:equivalentTo", source="DOID:2935"} -xref: MedDRA:10008415 {source="ORDO:167/e", source="Orphanet:167"} -xref: MESH:D002609 {source="MONDO:equivalentTo", source="ORDO:167/e", source="DOID:2935", source="Orphanet:167"} +xref: MedDRA:10008415 {source="Orphanet:167/e", source="Orphanet:167"} +xref: MESH:D002609 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="DOID:2935", source="Orphanet:167"} xref: NCIT:C2941 {source="MONDO:equivalentTo", source="DOID:2935"} -xref: OMIM:214500 {source="MONDO:equivalentTo", source="ORDO:167/e", source="DOID:2935", source="Orphanet:167"} +xref: OMIM:214500 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="DOID:2935", source="Orphanet:167"} xref: Orphanet:167 {source="MONDO:equivalentTo", source="OMIM:214500", source="DOID:2935"} xref: SCTID:111396008 {source="MONDO:equivalentTo", source="DOID:2935"} xref: SCTID:123309000 {source="DOID:2935"} xref: SCTID:190696004 {source="DOID:2935"} xref: SCTID:191356000 {source="DOID:2935"} -xref: UMLS:C0007965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:214500", source="ORDO:167/e", source="DOID:2935", source="NCIT:C2941", source="Orphanet:167"} +xref: UMLS:C0007965 {source="NCBI:mim2gene_medline", source="Orphanet:167/e", source="MONDO:equivalentTo", source="OMIM:214500", source="DOID:2935", source="NCIT:C2941", source="Orphanet:167"} is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0005093 ! skin disorder is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia @@ -166751,13 +166719,13 @@ synonym: "secretory diarrhea caused by mutation in SLC26A3" EXACT [MONDO:design_ synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060296 {source="MONDO:equivalentTo"} xref: GARD:0010001 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:P78.3 {source="Orphanet:53689", source="ORDO:53689/attributed", source="ORDO:53689/ntbt"} +xref: ICD10CM:P78.3 {source="Orphanet:53689/attributed", source="Orphanet:53689/ntbt", source="Orphanet:53689"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536210 {source="DOID:0060296", source="ORDO:53689/e", source="Orphanet:53689", source="MONDO:equivalentTo"} -xref: OMIM:214700 {source="DOID:0060296", source="ORDO:53689/e", source="Orphanet:53689", source="MONDO:equivalentTo"} +xref: MESH:C536210 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"} +xref: OMIM:214700 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"} xref: Orphanet:53689 {source="DOID:0060296", source="MONDO:equivalentTo", source="OMIM:214700"} xref: SCTID:24412005 {source="DOID:0060296", source="MONDO:equivalentTo"} -xref: UMLS:C0267662 {source="DOID:0060296", source="ORDO:53689/e", source="Orphanet:53689", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:214700"} +xref: UMLS:C0267662 {source="DOID:0060296", source="Orphanet:53689", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:214700", source="Orphanet:53689/e"} is_a: MONDO:0000249 {source="DOID:0060296", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:214700", source="OMIM:214700"} ! congenital diarrhea is_a: MONDO:0015178 {source="Orphanet:53689"} ! congenital intestinal transport defect @@ -166783,17 +166751,17 @@ synonym: "coloboma-heart defects-atresia choanae-retardation of growth and devel synonym: "Hall-Hittner syndrome" EXACT [GARD:0000029, OMIM:214800, Orphanet:138] xref: DOID:0050834 {source="MONDO:equivalentTo"} xref: GARD:0000029 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:138", source="ORDO:138/attributed", source="ORDO:138/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:138/attributed", source="Orphanet:138/ntbt", source="Orphanet:138"} xref: ICD10CM:Q89.8 {source="DOID:0050834"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10064063 {source="Orphanet:138", source="ORDO:138/e"} -xref: MESH:D058747 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="ORDO:138/e"} +xref: MedDRA:10064063 {source="Orphanet:138", source="Orphanet:138/e"} +xref: MESH:D058747 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="Orphanet:138/e"} xref: NCIT:C75100 {source="MONDO:equivalentTo", source="DOID:0050834"} -xref: OMIM:214800 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="ORDO:138/e"} +xref: OMIM:214800 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="Orphanet:138/e"} xref: Orphanet:138 {source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="OMIM:214800"} xref: SCTID:394529000 {source="DOID:0050834"} xref: SCTID:47535005 {source="MONDO:equivalentTo", source="DOID:0050834"} -xref: UMLS:C0265354 {source="Orphanet:138", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050834", source="NCIT:C75100", source="GARD:0000029", source="OMIM:214800", source="ORDO:138/e"} +xref: UMLS:C0265354 {source="Orphanet:138", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050834", source="NCIT:C75100", source="GARD:0000029", source="Orphanet:138/e", source="OMIM:214800"} xref: UMLS:C2936502 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050834"} is_a: MONDO:0002254 {source="DOID:0050834", source="MONDO:Redundant", source="NCIT:C75100", source="indirect"} ! syndromic disease is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -166829,11 +166797,11 @@ synonym: "lymphedema cholestasis syndrome" RELATED [GARD:0000370] synonym: "lymphedema-cholestasis syndrome" RELATED [OMIM:214900] xref: DOID:6691 {source="MONDO:equivalentTo"} xref: GARD:0000370 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.0 {source="MONDO:relatedTo", source="ORDO:1414/attributed", source="ORDO:1414/ntbt", source="Orphanet:1414"} +xref: ICD10CM:Q82.0 {source="MONDO:relatedTo", source="Orphanet:1414", source="Orphanet:1414/attributed", source="Orphanet:1414/ntbt"} xref: ICD9:576.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535330 {source="MONDO:equivalentTo", source="DOID:6691"} xref: NCIT:C35709 {source="MONDO:equivalentTo", source="DOID:6691"} -xref: OMIM:214900 {source="MONDO:equivalentTo", source="ORDO:1414/e", source="Orphanet:1414", source="DOID:6691"} +xref: OMIM:214900 {source="MONDO:equivalentTo", source="Orphanet:1414", source="DOID:6691", source="Orphanet:1414/e"} xref: Orphanet:1414 {source="MONDO:equivalentTo", source="DOID:6691", source="OMIM:214900"} xref: SCTID:28724005 {source="MONDO:equivalentTo", source="DOID:6691"} xref: UMLS:C0268314 {source="NCBI:mim2gene_medline", source="NCIT:C35709", source="MONDO:equivalentTo", source="Orphanet:1414", source="DOID:6691", source="OMIM:214900"} @@ -166873,12 +166841,12 @@ synonym: "trihydroxycoprostanic acid in bile" EXACT [DOID:0111068] synonym: "Trihydroxycoprostanic acid to cholic acid" RELATED [GARD:0010046] xref: DOID:0111068 {source="MONDO:equivalentTo"} xref: GARD:0010046 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="Orphanet:79095", source="ORDO:79095/attributed", source="ORDO:79095/ntbt", source="DOID:0111068"} -xref: MESH:C535444 {source="ORDO:79095/e", source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068"} -xref: OMIM:214950 {source="ORDO:79095/e", source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068"} -xref: OMIM:614307 {source="MONDO:superClassOf", source="Orphanet:79095", source="ORDO:79095/btnt"} +xref: ICD10CM:K76.8 {source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/attributed", source="Orphanet:79095/ntbt"} +xref: MESH:C535444 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} +xref: OMIM:214950 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} +xref: OMIM:614307 {source="MONDO:superClassOf", source="Orphanet:79095", source="Orphanet:79095/btnt"} xref: Orphanet:79095 {source="MONDO:equivalentTo", source="OMIM:214950", source="DOID:0111068"} -xref: UMLS:C1858328 {source="ORDO:79095/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:214950", source="Orphanet:79095", source="DOID:0111068"} +xref: UMLS:C1858328 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:214950", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"} xref: UMLS:C3280428 {source="MONDO:superClassOf", source="Orphanet:79095"} is_a: MONDO:0013681 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! alpha-methylacyl-CoA racemase deficiency is_a: MONDO:0018841 {source="DC-OMIM:214950", source="DOID:0111068", source="OMIM:214950", source="Orphanet:79095"} ! congenital bile acid synthesis defect @@ -166933,12 +166901,12 @@ synonym: "BOCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215045, Orphanet:50945] synonym: "chondrodysplasia, Blomstrand type" EXACT [MONDO:Lexical, OMIM:215045, Orphanet:50945] xref: DOID:0060387 {source="MONDO:equivalentTo"} xref: GARD:0000914 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:50945/attributed", source="ORDO:50945/ntbt", source="Orphanet:50945"} -xref: MESH:C537914 {source="DOID:0060387", source="MONDO:equivalentTo", source="ORDO:50945/e", source="Orphanet:50945"} +xref: ICD10CM:Q78.8 {source="Orphanet:50945", source="Orphanet:50945/attributed", source="Orphanet:50945/ntbt"} +xref: MESH:C537914 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"} xref: NCIT:C131420 {source="MONDO:equivalentTo"} -xref: OMIM:215045 {source="DOID:0060387", source="MONDO:equivalentTo", source="ORDO:50945/e", source="Orphanet:50945"} +xref: OMIM:215045 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"} xref: Orphanet:50945 {source="DOID:0060387", source="OMIM:215045", source="MONDO:equivalentTo"} -xref: UMLS:C1859148 {source="DOID:0060387", source="OMIM:215045", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:50945/e", source="NCIT:C131420", source="Orphanet:50945"} +xref: UMLS:C1859148 {source="Orphanet:50945/e", source="DOID:0060387", source="OMIM:215045", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131420", source="Orphanet:50945"} is_a: MONDO:0005516 {source="DOID:0060387", source="MESH:C537914", source="MESH:C537914/inferred", source="NCIT:C131420"} ! osteochondrodysplasia is_a: MONDO:0019702 {source="Orphanet:50945"} ! neonatal osteosclerotic dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9608 {source="mim2gene_medgen"} ! PTH1R @@ -166977,11 +166945,11 @@ synonym: "rhizomelic chondrodysplasia punctata type 1" EXACT CLINGEN_PREFERRED [ synonym: "rhizomelic chondrodysplasia punctata, type 1" EXACT [MONDO:Lexical, OMIM:215100] xref: DOID:0110851 {source="MONDO:equivalentTo"} xref: GARD:0006049 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="DOID:0110851", source="ORDO:309789/attributed", source="ORDO:309789/ntbt", source="Orphanet:309789"} -xref: OMIM:215100 {source="MONDO:equivalentTo", source="ORDO:309789/e", source="DOID:0110851", source="Orphanet:309789"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:309789/attributed", source="Orphanet:309789/ntbt", source="DOID:0110851", source="Orphanet:309789"} +xref: OMIM:215100 {source="Orphanet:309789/e", source="MONDO:equivalentTo", source="DOID:0110851", source="Orphanet:309789"} xref: Orphanet:177 {source="MONDO:subClassOf", source="OMIM:215100"} xref: Orphanet:309789 {source="OMIM:215100", source="MONDO:equivalentTo", source="DOID:0110851"} -xref: UMLS:C1859133 {source="OMIM:215100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309789/e", source="Orphanet:309789"} +xref: UMLS:C1859133 {source="OMIM:215100", source="NCBI:mim2gene_medline", source="Orphanet:309789/e", source="MONDO:equivalentTo", source="Orphanet:309789"} is_a: MONDO:0015776 {source="DOID:0110851", source="MONDO:Redundant", source="OMIM:215100", source="Orphanet:309789"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0100272 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX7 defect intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata @@ -166997,9 +166965,9 @@ def: "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primar subset: ordo_malformation_syndrome {source="Orphanet:79347"} synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105] synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347] -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:79347", source="ORDO:79347/attributed", source="ORDO:79347/ntbt"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:79347", source="Orphanet:79347/attributed", source="Orphanet:79347/ntbt"} xref: MESH:C565853 {source="MONDO:equivalentTo"} -xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="ORDO:79347/e"} +xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="Orphanet:79347/e"} xref: Orphanet:79347 {source="MONDO:equivalentTo", source="OMIM:215105"} xref: SCTID:715631005 {source="MONDO:equivalentTo"} xref: UMLS:C1859132 {source="NCBI:mim2gene_medline", source="OMIM:215105", source="MONDO:notFoundInDiseaseSubset"} @@ -167028,13 +166996,13 @@ synonym: "moth-eaten skeletal dysplasia" RELATED [OMIM:215140] synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426] xref: DOID:0111588 {source="MONDO:equivalentTo"} xref: GARD:0008754 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:1426/attributed", source="ORDO:1426/ntbt", source="Orphanet:1426"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:1426", source="Orphanet:1426/attributed", source="Orphanet:1426/ntbt"} xref: MESH:C535858 {source="MONDO:equivalentTo"} -xref: MESH:C537299 {source="Orphanet:1426", source="ORDO:1426/e"} -xref: OMIM:215140 {source="MONDO:equivalentTo", source="Orphanet:1426", source="ORDO:1426/e"} +xref: MESH:C537299 {source="Orphanet:1426", source="Orphanet:1426/e"} +xref: OMIM:215140 {source="MONDO:equivalentTo", source="Orphanet:1426", source="Orphanet:1426/e"} xref: Orphanet:1426 {source="MONDO:equivalentTo", source="OMIM:215140"} xref: SCTID:389261002 {source="MONDO:equivalentTo"} -xref: UMLS:C1300226 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1426", source="ORDO:1426/e"} +xref: UMLS:C1300226 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1426", source="Orphanet:1426/e"} xref: UMLS:C2931048 {source="MONDO:equivalentTo", source="Orphanet:1426", source="OMIM:215140"} xref: UMLS:CN199524 {source="MONDO:equivalentTo"} is_a: MONDO:0019240 {source="Orphanet:1426"} ! sterol biosynthesis disorder @@ -167061,9 +167029,9 @@ synonym: "otospondylmegaepiphyseal dysplasia" EXACT [OMIMPS:184840] synonym: "otospondylomegaepiphyseal dysplasia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:215150] xref: DOID:0080026 {source="MONDO:equivalentTo"} xref: GARD:0004130 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:1427/attributed", source="ORDO:1427/ntbt", source="Orphanet:1427"} +xref: ICD10CM:Q77.7 {source="Orphanet:1427/attributed", source="Orphanet:1427/ntbt", source="Orphanet:1427"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:215150 {source="DOID:0080026", source="MONDO:superClassOf", source="ORDO:1427/e", source="Orphanet:1427"} +xref: OMIM:215150 {source="Orphanet:1427/e", source="DOID:0080026", source="MONDO:superClassOf", source="Orphanet:1427"} xref: OMIMPS:184840 {source="MONDO:equivalentTo"} xref: Orphanet:1427 {source="MONDO:equivalentTo", source="OMIM:215150"} xref: SCTID:254060000 {source="MONDO:equivalentTo"} @@ -167101,19 +167069,19 @@ xref: DOID:3371 {source="MONDO:equivalentTo", source="EFO:0000333"} xref: EFO:0000333 {source="MONDO:equivalentTo"} xref: GARD:0006055 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0006765 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="ORDO:55880/ntbt", source="Orphanet:55880"} +xref: ICD10CM:C49.9 {source="Orphanet:55880/ntbt", source="Orphanet:55880"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9220/3 {source="NCIT:C2946"} -xref: MedDRA:10008734 {source="ORDO:55880/e", source="Orphanet:55880"} -xref: MESH:D002813 {source="MONDO:equivalentTo", source="EFO:0000333", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"} +xref: MedDRA:10008734 {source="Orphanet:55880/e", source="Orphanet:55880"} +xref: MESH:D002813 {source="Orphanet:55880/e", source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371", source="Orphanet:55880"} xref: NCIT:C2946 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"} -xref: OMIM:215300 {source="MONDO:equivalentTo", source="EFO:0000333", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"} +xref: OMIM:215300 {source="Orphanet:55880/e", source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371", source="Orphanet:55880"} xref: ONCOTREE:CHS {source="MONDO:equivalentTo"} xref: Orphanet:55880 {source="OMIM:215300", source="MONDO:equivalentTo"} xref: SCTID:14990007 {source="DOID:3371"} xref: SCTID:189886003 {source="DOID:3371"} xref: SCTID:443520009 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"} -xref: UMLS:C0008479 {source="NCIT:C2946", source="NCBI:mim2gene_medline", source="OMIM:215300", source="MONDO:equivalentTo", source="ORDO:55880/e", source="DOID:3371", source="Orphanet:55880"} +xref: UMLS:C0008479 {source="NCIT:C2946", source="Orphanet:55880/e", source="NCBI:mim2gene_medline", source="OMIM:215300", source="MONDO:equivalentTo", source="DOID:3371", source="Orphanet:55880"} xref: UMLS:C1335473 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3371"} is_a: MONDO:0005089 {source="EFO:0000333", source="MESH:D002813", source="MONDO:Redundant", source="NCIT:C2946", source="linkedlifedata"} ! sarcoma is_a: MONDO:0021581 {source="MESH:D002813", source="indirect"} ! connective tissue neoplasm @@ -167142,14 +167110,14 @@ xref: DOID:3302 {source="MONDO:equivalentTo"} xref: GARD:0001303 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0010762 {source="MONDO:otherHierarchy"} xref: ICDO:9370/3 {source="NCIT:C2947"} -xref: MedDRA:10008747 {source="ORDO:178/e", source="Orphanet:178"} -xref: MESH:D002817 {source="DOID:3302", source="MONDO:equivalentTo", source="ORDO:178/e", source="Orphanet:178"} +xref: MedDRA:10008747 {source="Orphanet:178/e", source="Orphanet:178"} +xref: MESH:D002817 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"} xref: NCIT:C2947 {source="DOID:3302", source="MONDO:equivalentTo"} -xref: OMIM:215400 {source="DOID:3302", source="MONDO:equivalentTo", source="ORDO:178/e", source="Orphanet:178"} +xref: OMIM:215400 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"} xref: ONCOTREE:CHDM {source="MONDO:equivalentTo"} xref: Orphanet:178 {source="OMIM:215400", source="MONDO:equivalentTo"} xref: SCTID:50007008 {source="DOID:3302"} -xref: UMLS:C0008487 {source="NCIT:C2947", source="DOID:3302", source="OMIM:215400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:178/e", source="Orphanet:178"} +xref: UMLS:C0008487 {source="NCIT:C2947", source="DOID:3302", source="OMIM:215400", source="NCBI:mim2gene_medline", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"} is_a: MONDO:0002597 {source="DOID:3302", source="NCIT:C2947"} ! notochordal tumor relationship: excluded_subClassOf MONDO:0015959 {source="Orphanet:178"} ! obsolete inherited syndrome with bone tumors as a major feature relationship: excluded_subClassOf MONDO:0019833 {source="Orphanet:178"} ! pituitary hormone deficiency from tumoral origin @@ -167169,7 +167137,7 @@ xref: OMIM:118700 {source="GARD:0001305", source="MONDO:directSiblingOf"} xref: OMIM:215450 {source="MONDO:equivalentTo"} xref: Orphanet:1429 {source="MONDO:subClassOf", source="OMIM:215450", source="GARD:0001305"} xref: UMLS:C1859098 {source="OMIM:215450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0001305"} -is_a: MONDO:0001595 {source="MESH:C565851", source="ORDO:1429/btnt"} ! choreatic disease +is_a: MONDO:0001595 {source="MESH:C565851", source="Orphanet:1429/btnt"} ! choreatic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea xsd:anyURI {source="GARD:0001305"} [Term] @@ -167186,9 +167154,9 @@ synonym: "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic h synonym: "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" EXACT [OMIM:215470] xref: DOID:0111265 {source="MONDO:equivalentTo"} xref: GARD:0000944 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:1180/attributed", source="ORDO:1180/ntbt", source="Orphanet:1180"} +xref: ICD10CM:G11.8 {source="Orphanet:1180/attributed", source="Orphanet:1180/ntbt", source="Orphanet:1180"} xref: MESH:C565850 {source="MONDO:equivalentTo"} -xref: OMIM:215470 {source="MONDO:equivalentTo", source="ORDO:1180/e", source="Orphanet:1180"} +xref: OMIM:215470 {source="Orphanet:1180/e", source="MONDO:equivalentTo", source="Orphanet:1180"} xref: Orphanet:1180 {source="MONDO:equivalentTo", source="OMIM:215470"} xref: SCTID:715984007 {source="MONDO:equivalentTo"} xref: UMLS:C1859093 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1180", source="OMIM:215470"} @@ -167208,9 +167176,9 @@ synonym: "choroid plexus calcification with intellectual disability" RELATED [GA synonym: "choroid plexus calcification with mental retardation" RELATED DEPRECATED [GARD:0001313] synonym: "Choroido-cerebral calcification syndrome with retardation" RELATED [GARD:0001313] xref: GARD:0001313 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G93.8 {source="ORDO:1313/attributed", source="ORDO:1313/ntbt", source="Orphanet:1313"} +xref: ICD10CM:G93.8 {source="Orphanet:1313", source="Orphanet:1313/attributed", source="Orphanet:1313/ntbt"} xref: MESH:C535357 {source="MONDO:equivalentTo"} -xref: OMIM:215480 {source="ORDO:1313/e", source="MONDO:equivalentTo", source="Orphanet:1313"} +xref: OMIM:215480 {source="MONDO:equivalentTo", source="Orphanet:1313", source="Orphanet:1313/e"} xref: Orphanet:1313 {source="MONDO:equivalentTo", source="OMIM:215480"} xref: SCTID:724228005 {source="MONDO:equivalentTo"} xref: UMLS:C1859092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1313", source="OMIM:215480"} @@ -167232,12 +167200,12 @@ synonym: "choroidal dystrophy" EXACT [MONDO:0000013] synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049] synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500] xref: GARD:0010049 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H31.2 {source="Orphanet:75377", source="ORDO:75377/inclusion", source="ORDO:75377/ntbt"} +xref: ICD10CM:H31.2 {source="Orphanet:75377", source="Orphanet:75377/ntbt", source="Orphanet:75377/inclusion"} xref: ICD9:363.54 {source="MONDO:equivalentTo", source="i2s"} -xref: MESH:C535358 {source="Orphanet:75377", source="MONDO:directSiblingOf", source="ORDO:75377/e"} -xref: OMIM:215500 {source="Orphanet:75377", source="MONDO:superClassOf", source="ORDO:75377/e"} -xref: OMIM:613105 {source="Orphanet:75377", source="MONDO:superClassOf", source="ORDO:75377/btnt"} -xref: OMIM:613144 {source="Orphanet:75377", source="MONDO:superClassOf", source="ORDO:75377/btnt"} +xref: MESH:C535358 {source="Orphanet:75377", source="Orphanet:75377/e", source="MONDO:directSiblingOf"} +xref: OMIM:215500 {source="Orphanet:75377", source="Orphanet:75377/e", source="MONDO:superClassOf"} +xref: OMIM:613105 {source="Orphanet:75377", source="Orphanet:75377/btnt", source="MONDO:superClassOf"} +xref: OMIM:613144 {source="Orphanet:75377", source="Orphanet:75377/btnt", source="MONDO:superClassOf"} xref: OMIMPS:215500 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="MONDO:equivalentTo", source="OMIM:215500"} xref: SCTID:231996009 {source="MONDO:equivalentTo"} @@ -167323,10 +167291,10 @@ synonym: "CTLN1" EXACT ABBREVIATION [Orphanet:247525] synonym: "CTNL1" RELATED ABBREVIATION [GARD:0006114] xref: DOID:0070340 {source="MONDO:equivalentTo"} xref: GARD:0006114 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E72.2 {source="Orphanet:247525", source="ORDO:247525/attributed", source="ORDO:247525/ntbt"} -xref: MedDRA:10058298 {source="Orphanet:247525", source="ORDO:247525/e"} +xref: ICD10CM:E72.2 {source="Orphanet:247525/attributed", source="Orphanet:247525/ntbt", source="Orphanet:247525"} +xref: MedDRA:10058298 {source="Orphanet:247525", source="Orphanet:247525/e"} xref: NCIT:C150601 {source="MONDO:equivalentTo"} -xref: OMIM:215700 {source="DOID:0070340", source="Orphanet:247525", source="ORDO:247525/e", source="MONDO:equivalentTo"} +xref: OMIM:215700 {source="DOID:0070340", source="Orphanet:247525", source="MONDO:equivalentTo", source="Orphanet:247525/e"} xref: Orphanet:247525 {source="MONDO:equivalentTo", source="OMIM:215700"} xref: SCTID:398680004 {source="MONDO:equivalentTo"} xref: UMLS:C0175683 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:215700"} @@ -167363,7 +167331,7 @@ xref: Orphanet:2005 {source="GARD:0004015", source="MONDO:equivalentObsolete"} xref: Orphanet:93940 {source="MONDO:subClassOf", source="OMIM:215800", source="MONDO:directSiblingOf"} xref: UMLS:C0858233 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:215800"} xref: UMLS:C1859083 {source="GARD:0004015", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:215800"} -is_a: MONDO:0016060 {source="ORDO:2004/btnt"} ! laryngotracheoesophageal cleft +is_a: MONDO:0016060 {source="Orphanet:2004/btnt"} ! laryngotracheoesophageal cleft [Term] id: MONDO:0008991 @@ -167378,12 +167346,12 @@ synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [Orphanet:3429] synonym: "Clh syndrome" RELATED [OMIM:215850] synonym: "Verloove Vanhorick Brubakk syndrome" RELATED [GARD:0005482] xref: GARD:0005482 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3429/attributed", source="ORDO:3429/ntbt", source="Orphanet:3429"} -xref: MESH:C536541 {source="MONDO:equivalentTo", source="ORDO:3429/e", source="Orphanet:3429"} -xref: OMIM:215850 {source="MONDO:equivalentTo", source="ORDO:3429/e", source="Orphanet:3429"} +xref: ICD10CM:Q87.8 {source="Orphanet:3429/attributed", source="Orphanet:3429/ntbt", source="Orphanet:3429"} +xref: MESH:C536541 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"} +xref: OMIM:215850 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"} xref: Orphanet:3429 {source="OMIM:215850", source="MONDO:equivalentTo"} xref: SCTID:764697003 {source="MONDO:equivalentTo"} -xref: UMLS:C1859082 {source="NCBI:mim2gene_medline", source="OMIM:215850", source="MONDO:equivalentTo", source="ORDO:3429/e", source="Orphanet:3429"} +xref: UMLS:C1859082 {source="Orphanet:3429/e", source="NCBI:mim2gene_medline", source="OMIM:215850", source="MONDO:equivalentTo", source="Orphanet:3429"} is_a: MONDO:0015161 {source="Orphanet:3429", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:3429"} ! orofacial clefting syndrome is_a: MONDO:0043008 {source="Orphanet:3429"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -167402,9 +167370,9 @@ synonym: "JHS" RELATED ABBREVIATION [GARD:0003060] synonym: "Juberg-Hayward syndrome" EXACT [OMIM:216100] synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319] xref: GARD:0003060 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:2319/attributed", source="ORDO:2319/ntbt", source="Orphanet:2319"} -xref: MESH:C537690 {source="MONDO:equivalentTo", source="Orphanet:2319", source="ORDO:2319/e"} -xref: OMIM:216100 {source="MONDO:equivalentTo", source="Orphanet:2319", source="ORDO:2319/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:2319", source="Orphanet:2319/attributed", source="Orphanet:2319/ntbt"} +xref: MESH:C537690 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} +xref: OMIM:216100 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} xref: Orphanet:2319 {source="OMIM:216100", source="MONDO:equivalentTo"} xref: SCTID:721874001 {source="MONDO:equivalentTo"} xref: UMLS:C0796099 {source="OMIM:216100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2319"} @@ -167423,9 +167391,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2010"} synonym: "cleft palate stapes fixation oligodontia" RELATED [GARD:0001393] synonym: "cleft palate, deafness, and oligodontia" RELATED [OMIM:216300] xref: GARD:0001393 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2010/attributed", source="ORDO:2010/ntbt", source="Orphanet:2010"} +xref: ICD10CM:Q87.8 {source="Orphanet:2010/attributed", source="Orphanet:2010/ntbt", source="Orphanet:2010"} xref: MESH:C565844 {source="MONDO:equivalentTo"} -xref: OMIM:216300 {source="MONDO:equivalentTo", source="GARD:0001393", source="Orphanet:2010", source="ORDO:2010/e"} +xref: OMIM:216300 {source="Orphanet:2010/e", source="MONDO:equivalentTo", source="GARD:0001393", source="Orphanet:2010"} xref: Orphanet:2010 {source="OMIM:216300", source="MONDO:equivalentTo"} xref: UMLS:C1859081 {source="OMIM:216300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2010"} is_a: MONDO:0021147 {source="Orphanet:2010", source="Orphanet:2010/inferred"} ! disorder of development or morphogenesis @@ -167465,11 +167433,11 @@ synonym: "Yunis-Varón syndrome" RELATED [GARD:0000331] synonym: "YVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216340] xref: DOID:0060589 {source="MONDO:equivalentTo"} xref: GARD:0000331 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="DOID:0060589", source="ORDO:3472/attributed", source="ORDO:3472/ntbt", source="Orphanet:3472"} -xref: MESH:C536719 {source="DOID:0060589", source="MONDO:equivalentTo", source="ORDO:3472/e", source="Orphanet:3472"} -xref: OMIM:216340 {source="DOID:0060589", source="MONDO:equivalentTo", source="ORDO:3472/e", source="Orphanet:3472"} +xref: ICD10CM:Q87.8 {source="DOID:0060589", source="Orphanet:3472/attributed", source="Orphanet:3472/ntbt", source="Orphanet:3472"} +xref: MESH:C536719 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"} +xref: OMIM:216340 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"} xref: Orphanet:3472 {source="MONDO:equivalentTo", source="OMIM:216340"} -xref: UMLS:C1857663 {source="NCBI:mim2gene_medline", source="DOID:0060589", source="MONDO:equivalentTo", source="ORDO:3472/e", source="OMIM:216340", source="Orphanet:3472"} +xref: UMLS:C1857663 {source="NCBI:mim2gene_medline", source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="OMIM:216340", source="Orphanet:3472"} is_a: MONDO:0002254 {source="DOID:0060589"} ! syndromic disease is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16873 {source="mim2gene_medgen"} ! FIG4 @@ -167491,12 +167459,12 @@ synonym: "Joubert syndrome with hepatic defect" EXACT [Orphanet:1454] synonym: "JS-H" EXACT [Orphanet:1454] xref: DOID:0111589 {source="MONDO:equivalentTo"} xref: GARD:0001410 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:1454", source="ORDO:1454/attributed", source="ORDO:1454/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:1454/attributed", source="Orphanet:1454/ntbt", source="Orphanet:1454"} xref: MESH:C536430 {source="MONDO:equivalentTo"} -xref: OMIM:216360 {source="ORDO:1454/e", source="Orphanet:1454", source="MONDO:equivalentTo"} +xref: OMIM:216360 {source="Orphanet:1454", source="MONDO:equivalentTo", source="Orphanet:1454/e"} xref: Orphanet:1454 {source="MONDO:equivalentTo", source="OMIM:216360"} xref: SCTID:721847002 {source="MONDO:subClassOf"} -xref: UMLS:C1857662 {source="ORDO:1454/e", source="NCBI:mim2gene_medline", source="Orphanet:1454", source="MONDO:equivalentTo", source="OMIM:216360"} +xref: UMLS:C1857662 {source="NCBI:mim2gene_medline", source="Orphanet:1454", source="MONDO:equivalentTo", source="Orphanet:1454/e", source="OMIM:216360"} is_a: MONDO:0015369 {source="Orphanet:1454"} ! Joubert syndrome and related disorders is_a: MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:1454"} ! genetic parenchymatous liver disease is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:1454", source="Orphanet:1454/inferred"} ! disorder of development or morphogenesis @@ -167527,13 +167495,13 @@ synonym: "Cockayne syndrome type C" RELATED [GARD:0001417] synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324] synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411] xref: GARD:0001417 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:90324/attributed", source="ORDO:90324/ntbt", source="Orphanet:90324"} -xref: OMIM:133540 {source="ORDO:90324/btnt", source="Orphanet:90324", source="MONDO:directSiblingOf"} -xref: OMIM:216400 {source="ORDO:90324/btnt", source="Orphanet:90324", source="MONDO:directSiblingOf"} -xref: OMIM:216411 {source="MONDO:equivalentObsolete", source="OMIM:216400", source="ORDO:90324/btnt", source="GARD:0001417", source="Orphanet:90324"} +xref: ICD10CM:Q87.8 {source="Orphanet:90324/attributed", source="Orphanet:90324/ntbt", source="Orphanet:90324"} +xref: OMIM:133540 {source="Orphanet:90324/btnt", source="Orphanet:90324", source="MONDO:directSiblingOf"} +xref: OMIM:216400 {source="Orphanet:90324/btnt", source="Orphanet:90324", source="MONDO:directSiblingOf"} +xref: OMIM:216411 {source="MONDO:equivalentObsolete", source="OMIM:216400", source="Orphanet:90324/btnt", source="GARD:0001417", source="Orphanet:90324"} xref: Orphanet:191 {source="MONDO:subClassOf", source="OMIM:216411"} xref: Orphanet:90324 {source="OMIM:216411", source="MONDO:equivalentTo", source="GARD:0001417"} -xref: UMLS:C0751037 {source="NCBI:mim2gene_medline", source="OMIM:216411", source="ORDO:90324/e", source="MONDO:notFoundInDiseaseSubset", source="GARD:0001417", source="Orphanet:90324"} +xref: UMLS:C0751037 {source="Orphanet:90324/e", source="NCBI:mim2gene_medline", source="OMIM:216411", source="MONDO:notFoundInDiseaseSubset", source="GARD:0001417", source="Orphanet:90324"} is_a: MONDO:0016006 {source="DC-OMIM:216411", source="Orphanet:90324"} ! Cockayne syndrome property_value: confidence "0.8452812500000009" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii xsd:anyURI {source="GARD:0001417"} @@ -167555,14 +167523,14 @@ synonym: "hypotonia, obesity, and prominent incisors" RELATED [OMIM:216550] synonym: "pepper syndrome" RELATED [OMIM:216550] xref: DOID:0111590 {source="MONDO:equivalentTo"} xref: GARD:0006126 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:193/attributed", source="ORDO:193/ntbt", source="Orphanet:193"} +xref: ICD10CM:Q87.8 {source="Orphanet:193", source="Orphanet:193/attributed", source="Orphanet:193/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049066 {source="ORDO:193/e", source="Orphanet:193"} -xref: MESH:C536438 {source="ORDO:193/e", source="MONDO:equivalentTo", source="Orphanet:193"} -xref: OMIM:216550 {source="ORDO:193/e", source="MONDO:equivalentTo", source="Orphanet:193"} +xref: MedDRA:10049066 {source="Orphanet:193", source="Orphanet:193/e"} +xref: MESH:C536438 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"} +xref: OMIM:216550 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"} xref: Orphanet:193 {source="OMIM:216550", source="MONDO:equivalentTo"} xref: SCTID:56604005 {source="MONDO:equivalentTo"} -xref: UMLS:C0265223 {source="OMIM:216550", source="NCBI:mim2gene_medline", source="ORDO:193/e", source="Orphanet:193", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265223 {source="OMIM:216550", source="NCBI:mim2gene_medline", source="Orphanet:193", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:193/e"} xref: UMLS:C1854061 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:193", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia @@ -167585,9 +167553,9 @@ synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical, O synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331] synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216700] xref: GARD:0013331 {source="MONDO:equivalentTo"} -xref: ICD10CM:L87.1 {source="ORDO:79147/attributed", source="ORDO:79147/ntbt", source="Orphanet:79147"} +xref: ICD10CM:L87.1 {source="Orphanet:79147/attributed", source="Orphanet:79147/ntbt", source="Orphanet:79147"} xref: MESH:C565687 {source="MONDO:equivalentTo"} -xref: OMIM:216700 {source="MONDO:equivalentTo", source="ORDO:79147/e", source="Orphanet:79147"} +xref: OMIM:216700 {source="Orphanet:79147/e", source="MONDO:equivalentTo", source="Orphanet:79147"} xref: Orphanet:79147 {source="MONDO:equivalentTo", source="OMIM:216700"} xref: UMLS:C1857624 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216700", source="Orphanet:79147"} is_a: MONDO:0019292 {source="Orphanet:79147", source="Orphanet:79147/inferred"} ! dermis elastic tissue disorder @@ -167600,9 +167568,9 @@ name: macular coloboma-cleft palate-hallux valgus syndrome def: "Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." [Orphanet:91494] subset: ordo_malformation_syndrome {source="Orphanet:91494"} synonym: "coloboma of macula and skeletal anomalies" RELATED [OMIM:216800] -xref: ICD10CM:Q87.8 {source="Orphanet:91494", source="ORDO:91494/attributed", source="ORDO:91494/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:91494", source="Orphanet:91494/attributed", source="Orphanet:91494/ntbt"} xref: MESH:C565686 {source="MONDO:equivalentTo"} -xref: OMIM:216800 {source="ORDO:91494/e", source="Orphanet:91494", source="MONDO:equivalentTo"} +xref: OMIM:216800 {source="Orphanet:91494", source="MONDO:equivalentTo", source="Orphanet:91494/e"} xref: Orphanet:91494 {source="MONDO:equivalentTo", source="OMIM:216800"} xref: SCTID:722463001 {source="MONDO:equivalentTo"} xref: UMLS:C1857619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216800"} @@ -167618,7 +167586,7 @@ xref: OMIM:216820 {source="MONDO:equivalentTo"} xref: Orphanet:194 {source="MONDO:subClassOf", source="OMIM:216820"} xref: UMLS:C0009363 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:216820"} xref: UMLS:C4011974 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0001476 {source="ORDO:194/btnt"} ! coloboma +is_a: MONDO:0001476 {source="Orphanet:194/btnt"} ! coloboma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10526 {source="mim2gene_medgen"} ! SALL2 property_value: confidence "0.045454545454545636" xsd:double @@ -167669,7 +167637,7 @@ xref: Orphanet:169147 {source="MONDO:subClassOf", source="OMIM:216950"} xref: UMLS:C3150274 {source="NCIT:C119991", source="NCBI:mim2gene_medline", source="OMIM:216950", source="MONDO:equivalentTo"} is_a: MONDO:0000015 {source="DC-OMIM:216950"} ! classic complement early component deficiency is_a: MONDO:0003832 {source="MONDO:Redundant", source="NCIT:C119991", source="indirect"} ! complement deficiency -is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency +is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1246 {source="mim2gene_medgen"} ! C1R property_value: confidence "1.1504873407530516" xsd:double @@ -167692,7 +167660,7 @@ xref: Orphanet:169147 {source="MONDO:subClassOf", source="DOID:0060295", source= xref: UMLS:C3150275 {source="NCIT:C119992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:217000"} is_a: MONDO:0000015 {source="DC-OMIM:217000"} ! classic complement early component deficiency is_a: MONDO:0003832 {source="DOID:0060295", source="MONDO:Redundant", source="NCIT:C119992", source="indirect"} ! complement deficiency -is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency +is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0003832 ! complement deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1248 ! C2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1248 {source="mim2gene_medgen"} ! C2 @@ -167712,15 +167680,15 @@ synonym: "cone-rod dystrophy with amelogenesis imperfecta" RELATED [GARD:0001463 synonym: "Jalili syndrome" EXACT CLINGEN_PREFERRED [GARD:0001463, OMIM:217080] xref: DOID:0111404 {source="MONDO:equivalentTo"} xref: GARD:0001463 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:1873", source="ORDO:1873/attributed", source="ORDO:1873/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:1873/attributed", source="Orphanet:1873/ntbt", source="MONDO:relatedTo", source="Orphanet:1873"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C000596385 {source="MONDO:equivalentTo"} -xref: OMIM:217080 {source="GARD:0001463", source="Orphanet:1873", source="ORDO:1873/e", source="MONDO:equivalentTo"} +xref: OMIM:217080 {source="GARD:0001463", source="Orphanet:1873", source="MONDO:equivalentTo", source="Orphanet:1873/e"} xref: Orphanet:1873 {source="GARD:0001463", source="MONDO:equivalentTo", source="OMIM:217080"} xref: SCTID:707608003 {source="MONDO:equivalentTo"} xref: UMLS:C1857588 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931074 {source="Orphanet:1873", source="ORDO:1873/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931074 {source="Orphanet:1873", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1873/e"} xref: UMLS:C3495589 {source="Orphanet:1873", source="MONDO:equivalentTo", source="OMIM:217080"} xref: UMLS:CN200616 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:1873", source="Orphanet:1873/inferred"} ! disorder of development or morphogenesis @@ -167742,12 +167710,12 @@ synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [Orphanet:1338] xref: DOID:0111591 {source="MONDO:equivalentTo"} xref: GARD:0002612 {source="MONDO:equivalentTo"} xref: GARD:0004166 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1338/attributed", source="ORDO:1338/ntbt", source="Orphanet:1338"} -xref: MESH:C535849 {source="MONDO:equivalentTo", source="Orphanet:1338", source="ORDO:1338/e"} -xref: OMIM:217085 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="ORDO:1338/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1338", source="Orphanet:1338/attributed", source="Orphanet:1338/ntbt"} +xref: MESH:C535849 {source="MONDO:equivalentTo", source="Orphanet:1338", source="Orphanet:1338/e"} +xref: OMIM:217085 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="Orphanet:1338/e"} xref: Orphanet:1338 {source="MONDO:equivalentTo", source="OMIM:217085"} xref: UMLS:C1857587 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:217085"} -xref: UMLS:C2931046 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="ORDO:1338/e"} +xref: UMLS:C2931046 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="Orphanet:1338/e"} is_a: MONDO:0015161 {source="Orphanet:1338", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1338", source="Orphanet:1338/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:1338"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -167769,13 +167737,13 @@ synonym: "plasminogen deficiency, type 2" RELATED [OMIM:217090] synonym: "plasminogen deficiency, type I" RELATED [OMIM:217090] synonym: "type 1 plasminogen deficiency" RELATED [GARD:0004380] xref: GARD:0004380 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L90.5 {source="Orphanet:722", source="ORDO:722/attributed", source="ORDO:722/ntbt"} +xref: ICD10CM:L90.5 {source="Orphanet:722", source="Orphanet:722/attributed", source="Orphanet:722/ntbt"} xref: MESH:C580017 {source="MONDO:equivalentTo"} -xref: OMIM:217090 {source="ORDO:722/e", source="Orphanet:722", source="MONDO:equivalentTo"} +xref: OMIM:217090 {source="Orphanet:722", source="MONDO:equivalentTo", source="Orphanet:722/e"} xref: Orphanet:722 {source="MONDO:equivalentTo", source="OMIM:217090"} xref: Orphanet:97231 {source="MONDO:relatedTo", source="OMIM:217090"} xref: SCTID:95840007 {source="MONDO:equivalentTo"} -xref: UMLS:C0398621 {source="ORDO:722/e", source="Orphanet:722", source="MONDO:equivalentTo"} +xref: UMLS:C0398621 {source="Orphanet:722", source="MONDO:equivalentTo", source="Orphanet:722/e"} xref: UMLS:C1274789 {source="MONDO:relatedTo", source="OMIM:217090"} xref: UMLS:C1968804 {source="Orphanet:722", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:217090"} is_a: MONDO:0002242 {source="MESH:C580017"} ! coagulation protein disease @@ -167792,11 +167760,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:2299"} xref: GARD:0000740 {source="MONDO:equivalentTo"} xref: ICD10CM:Q20.1 {source="DOID:6406"} xref: ICD10CM:Q25.21 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q25.4 {source="Orphanet:2299", source="ORDO:2299/ntbt"} +xref: ICD10CM:Q25.4 {source="Orphanet:2299/ntbt", source="Orphanet:2299"} xref: ICD9:745.11 {source="DOID:6406"} -xref: MedDRA:10022599 {source="ORDO:2299/e", source="Orphanet:2299"} +xref: MedDRA:10022599 {source="Orphanet:2299", source="Orphanet:2299/e"} xref: Orphanet:2299 {source="MONDO:equivalentTo"} -xref: UMLS:C0152419 {source="ORDO:2299/e", source="Orphanet:2299", source="MONDO:notFoundInDiseaseSubset", source="OMIM:217095"} +xref: UMLS:C0152419 {source="Orphanet:2299", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2299/e", source="OMIM:217095"} is_a: MONDO:0020286 {source="Orphanet:2299"} ! aortic malformation property_value: confidence "0.6726012650301525" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption xsd:anyURI {source="GARD:0000740"} @@ -167815,8 +167783,8 @@ synonym: "constriction band syndrome" EXACT [Orphanet:295000] synonym: "Streeter anomaly" RELATED [OMIM:217100] synonym: "Streeter dysplasia" EXACT [Orphanet:295000] synonym: "terminal transverse defects of arm" RELATED [OMIM:217100] -xref: ICD10CM:Q79.8 {source="Orphanet:295000", source="ORDO:295000/attributed", source="ORDO:295000/ntbt"} -xref: OMIM:217100 {source="ORDO:295000/e", source="Orphanet:295000", source="MONDO:equivalentTo"} +xref: ICD10CM:Q79.8 {source="Orphanet:295000/attributed", source="Orphanet:295000/ntbt", source="Orphanet:295000"} +xref: OMIM:217100 {source="Orphanet:295000", source="MONDO:equivalentTo", source="Orphanet:295000/e"} xref: Orphanet:295000 {source="OMIM:217100", source="MONDO:equivalentTo"} xref: Orphanet:93937 {source="OMIM:217100", source="MONDO:superClassOf"} xref: UMLS:C0220724 {source="OMIM:217100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -167839,9 +167807,9 @@ synonym: "malignant hyperthermia - arthrogryposis - torticollis" RELATED [GARD:0 synonym: "malignant hyperthermia arthrogryposis torticollis" RELATED [GARD:0003361] synonym: "malignant hyperthermia-arthrogryposis-torticollis syndrome" EXACT [Orphanet:2215] xref: GARD:0003361 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2215/attributed", source="ORDO:2215/ntbt", source="Orphanet:2215"} +xref: ICD10CM:Q87.8 {source="Orphanet:2215", source="Orphanet:2215/attributed", source="Orphanet:2215/ntbt"} xref: MESH:C565679 {source="MONDO:equivalentTo"} -xref: OMIM:217150 {source="ORDO:2215/e", source="MONDO:equivalentTo", source="Orphanet:2215", source="GARD:0003361"} +xref: OMIM:217150 {source="MONDO:equivalentTo", source="Orphanet:2215", source="GARD:0003361", source="Orphanet:2215/e"} xref: Orphanet:2215 {source="MONDO:equivalentTo", source="OMIM:217150", source="GARD:0003361"} xref: UMLS:C1857576 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2215", source="OMIM:217150"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder @@ -167874,7 +167842,7 @@ xref: OMIM:217300 {source="MONDO:equivalentTo"} xref: Orphanet:53691 {source="MONDO:subClassOf", source="OMIM:217300"} xref: UMLS:C1857574 {source="OMIM:217300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000733 {source="MONDO:Redundant", source="OMIM:217300", source="indirect"} ! cornea plana -is_a: MONDO:0018888 {source="ORDO:53691/btnt"} ! congenital cornea plana +is_a: MONDO:0018888 {source="Orphanet:53691/btnt"} ! congenital cornea plana intersection_of: MONDO:0000733 ! cornea plana intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6309 ! KERA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6309 {source="mim2gene_medgen"} ! KERA @@ -167895,12 +167863,12 @@ synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [OMIM:217 synonym: "Harboyan syndrome" EXACT [OMIM:217400, Orphanet:1490] xref: DOID:0111620 {source="MONDO:equivalentTo"} xref: GARD:0001529 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="ORDO:1490/attributed", source="ORDO:1490/ntbt", source="Orphanet:1490"} -xref: MESH:C535473 {source="MONDO:equivalentTo", source="ORDO:1490/e", source="Orphanet:1490"} -xref: OMIM:217400 {source="MONDO:equivalentTo", source="ORDO:1490/e", source="Orphanet:1490"} +xref: ICD10CM:H18.5 {source="Orphanet:1490/attributed", source="Orphanet:1490/ntbt", source="Orphanet:1490"} +xref: MESH:C535473 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"} +xref: OMIM:217400 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"} xref: Orphanet:1490 {source="OMIM:217400", source="MONDO:equivalentTo"} xref: SCTID:720749004 {source="MONDO:equivalentTo"} -xref: UMLS:C1857572 {source="OMIM:217400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1490/e", source="Orphanet:1490"} +xref: UMLS:C1857572 {source="OMIM:217400", source="Orphanet:1490/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1490"} is_a: MONDO:0019589 {source="Orphanet:1490"} ! syndromic genetic hearing loss is_a: MONDO:0020215 {source="Orphanet:1490"} ! syndromic corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16438 {source="mim2gene_medgen"} ! SLC4A11 @@ -167944,12 +167912,12 @@ synonym: "central cloudy corneal dystrophy of François" EXACT [Orphanet:98972] synonym: "central cloudy dystrophy of Francois" EXACT [MONDO:Lexical, OMIM:217600] synonym: "central cloudy dystrophy of François" EXACT [Orphanet:98972] synonym: "corneal dystrophy, central type" RELATED [OMIM:217600] -xref: ICD10CM:H18.5 {source="Orphanet:98972", source="ORDO:98972/attributed", source="ORDO:98972/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98972", source="Orphanet:98972/attributed", source="Orphanet:98972/ntbt"} xref: MESH:C563262 {source="MONDO:equivalentTo"} -xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source="ORDO:98972/e"} +xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source="Orphanet:98972/e"} xref: Orphanet:98972 {source="OMIM:217600", source="MONDO:equivalentTo"} xref: SCTID:419074008 {source="MONDO:equivalentTo"} -xref: UMLS:C1622427 {source="Orphanet:98972", source="OMIM:217600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98972/e"} +xref: UMLS:C1622427 {source="Orphanet:98972", source="OMIM:217600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98972/e"} is_a: MONDO:0020213 {source="Orphanet:98972-textdef"} ! stromal corneal dystrophy is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy @@ -167980,9 +167948,9 @@ synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603] synonym: "Maumenee corneal dystrophy" RELATED EXCLUDE [Orphanet:293603] xref: DOID:0060649 {source="MONDO:equivalentTo"} xref: GARD:0006196 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="ORDO:293603/attributed", source="ORDO:293603/ntbt", source="Orphanet:293603"} +xref: ICD10CM:H18.5 {source="Orphanet:293603/attributed", source="Orphanet:293603/ntbt", source="Orphanet:293603"} xref: MESH:C536439 {source="MONDO:equivalentTo"} -xref: OMIM:217700 {source="MONDO:equivalentTo", source="GARD:0006196", source="DOID:0060649", source="Orphanet:293603", source="ORDO:293603/e"} +xref: OMIM:217700 {source="Orphanet:293603/e", source="MONDO:equivalentTo", source="GARD:0006196", source="DOID:0060649", source="Orphanet:293603"} xref: Orphanet:293603 {source="MONDO:equivalentTo", source="OMIM:217700", source="GARD:0006196"} xref: UMLS:C1857569 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:217700", source="Orphanet:293603"} is_a: MONDO:0000766 {source="DOID:0060649"} ! corneal endothelial dystrophy @@ -168015,17 +167983,17 @@ synonym: "Mcdc1" RELATED [OMIM:217800] synonym: "Mcdc1, formerly" RELATED [OMIM:217800] xref: DOID:2565 {source="MONDO:equivalentTo"} xref: GARD:0006953 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="ORDO:98969/attributed", source="ORDO:98969/ntbt", source="Orphanet:98969"} +xref: ICD10CM:H18.5 {source="Orphanet:98969", source="Orphanet:98969/attributed", source="Orphanet:98969/ntbt"} xref: ICD10CM:H18.55 {source="DOID:2565", source="MONDO:equivalentTo"} xref: ICD9:371.55 {source="DOID:2565", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10025406 {source="ORDO:98969/e", source="Orphanet:98969"} +xref: MedDRA:10025406 {source="Orphanet:98969", source="Orphanet:98969/e"} xref: MESH:C537834 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MESH:D003317 {source="MONDO:subClassOf", source="DOID:2565"} xref: NCIT:C34793 {source="DOID:2565", source="MONDO:equivalentTo"} -xref: OMIM:217800 {source="DOID:2565", source="MONDO:equivalentTo", source="ORDO:98969/e", source="Orphanet:98969"} +xref: OMIM:217800 {source="DOID:2565", source="MONDO:equivalentTo", source="Orphanet:98969", source="Orphanet:98969/e"} xref: Orphanet:98969 {source="MONDO:equivalentTo", source="OMIM:217800"} xref: SCTID:60258001 {source="DOID:2565", source="MONDO:equivalentTo"} -xref: UMLS:C0024439 {source="DOID:2565", source="MONDO:equivalentTo", source="NCIT:C34793", source="ORDO:98969/e", source="Orphanet:98969"} +xref: UMLS:C0024439 {source="DOID:2565", source="MONDO:equivalentTo", source="NCIT:C34793", source="Orphanet:98969", source="Orphanet:98969/e"} xref: UMLS:C1636149 {source="NCBI:mim2gene_medline", source="OMIM:217800", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98969"} xref: UMLS:C1691013 {source="OMIM:217800", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018102 {source="DOID:2565/inferred", source="MONDO:Redundant", source="NCIT:C34793", source="Orphanet:98969/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal dystrophy @@ -168046,9 +168014,9 @@ synonym: "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" EXA synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [OMIM:217980] synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980] xref: GARD:0005225 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3338/attributed", source="ORDO:3338/ntbt", source="Orphanet:3338"} +xref: ICD10CM:Q87.8 {source="Orphanet:3338", source="Orphanet:3338/attributed", source="Orphanet:3338/ntbt"} xref: MESH:C563127 {source="MONDO:equivalentTo"} -xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="ORDO:3338/e"} +xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="Orphanet:3338/e"} xref: Orphanet:3338 {source="OMIM:217980", source="MONDO:equivalentTo"} xref: SCTID:722477003 {source="MONDO:equivalentTo"} xref: UMLS:C0796184 {source="OMIM:217980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3338"} @@ -168095,7 +168063,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1389"} synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [OMIM:218010] xref: GARD:0001548 {source="MONDO:equivalentTo"} xref: MESH:C565674 {source="MONDO:equivalentTo"} -xref: OMIM:218010 {source="Orphanet:1389", source="ORDO:1389/e", source="MONDO:equivalentTo"} +xref: OMIM:218010 {source="Orphanet:1389", source="MONDO:equivalentTo", source="Orphanet:1389/e"} xref: Orphanet:1389 {source="MONDO:equivalentTo", source="OMIM:218010"} xref: UMLS:C1857568 {source="Orphanet:1389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218010"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1389", source="indirect"} ! syndromic intellectual disability @@ -168124,16 +168092,16 @@ synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [DOID:0090121] synonym: "Ulick syndrome" EXACT [DOID:0090121, Orphanet:320] xref: DOID:0090121 {source="MONDO:equivalentObsolete"} xref: GARD:0000433 {source="MONDO:equivalentTo"} -xref: ICD10CM:E26.1 {source="ORDO:320/attributed", source="ORDO:320/ntbt", source="DOID:0090121", source="Orphanet:320"} -xref: MESH:C537422 {source="DOID:0090121", source="MONDO:equivalentTo", source="ORDO:320/e", source="Orphanet:320"} -xref: MESH:D043204 {source="MONDO:relatedTo", source="DOID:0090121", source="ORDO:320/e", source="Orphanet:320"} +xref: ICD10CM:E26.1 {source="DOID:0090121", source="Orphanet:320/attributed", source="Orphanet:320/ntbt", source="Orphanet:320"} +xref: MESH:C537422 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} +xref: MESH:D043204 {source="Orphanet:320/e", source="MONDO:relatedTo", source="DOID:0090121", source="Orphanet:320"} xref: NCIT:C131083 {source="MONDO:equivalentTo"} -xref: OMIM:218030 {source="DOID:0090121", source="MONDO:equivalentTo", source="ORDO:320/e", source="Orphanet:320"} +xref: OMIM:218030 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} xref: Orphanet:320 {source="DOID:0090121", source="MONDO:equivalentTo", source="OMIM:218030"} xref: SCTID:703256004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342488 {source="MONDO:relatedTo", source="DOID:0090121", source="ORDO:320/e", source="Orphanet:320"} +xref: UMLS:C0342488 {source="Orphanet:320/e", source="MONDO:relatedTo", source="DOID:0090121", source="Orphanet:320"} xref: UMLS:C1415737 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:218030"} -xref: UMLS:C2936861 {source="MONDO:equivalentObsolete", source="DOID:0090121", source="NCBI:mim2gene_medline", source="ORDO:320/e", source="Orphanet:320"} +xref: UMLS:C2936861 {source="Orphanet:320/e", source="MONDO:equivalentObsolete", source="DOID:0090121", source="NCBI:mim2gene_medline", source="Orphanet:320"} xref: UMLS:C3887949 {source="MONDO:equivalentTo", source="Orphanet:320"} xref: UMLS:CN203981 {source="MONDO:equivalentTo"} is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:320"} ! adrenal gland disorder @@ -168159,16 +168127,16 @@ synonym: "FCS syndrome" EXACT [DOID:0050469, Orphanet:3071] synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:218040] xref: DOID:0050469 {source="MONDO:equivalentTo"} xref: GARD:0001550 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3071/attributed", source="ORDO:3071/ntbt", source="Orphanet:3071"} +xref: ICD10CM:Q87.8 {source="Orphanet:3071", source="Orphanet:3071/attributed", source="Orphanet:3071/ntbt"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10067380 {source="Orphanet:3071", source="ORDO:3071/e"} -xref: MESH:D056685 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="ORDO:3071/e"} +xref: MedDRA:10067380 {source="Orphanet:3071", source="Orphanet:3071/e"} +xref: MESH:D056685 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"} xref: NCIT:C84652 {source="DOID:0050469", source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:218040 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="ORDO:3071/e"} +xref: OMIM:218040 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"} xref: Orphanet:3071 {source="MONDO:equivalentTo", source="OMIM:218040"} xref: SCTID:205803001 {source="DOID:0050469"} xref: SCTID:309776008 {source="DOID:0050469", source="MONDO:equivalentTo"} -xref: UMLS:C0587248 {source="NCBI:mim2gene_medline", source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="ORDO:3071/e", source="OMIM:218040", source="NCIT:C84652"} +xref: UMLS:C0587248 {source="NCBI:mim2gene_medline", source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="OMIM:218040", source="NCIT:C84652", source="Orphanet:3071/e"} xref: UMLS:C1968782 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:218040"} is_a: MONDO:0000426 {source="DOID:0050469", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3071", source="indirect"} ! syndromic intellectual disability @@ -168201,12 +168169,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1512"} synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [OMIM:218090] synonym: "Crane-Heise syndrome" EXACT [OMIM:218090] xref: GARD:0008428 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:1512/attributed", source="ORDO:1512/ntbt", source="Orphanet:1512"} -xref: MESH:C536452 {source="MONDO:equivalentTo", source="Orphanet:1512", source="ORDO:1512/e"} -xref: OMIM:218090 {source="MONDO:equivalentTo", source="Orphanet:1512", source="ORDO:1512/e"} +xref: ICD10CM:Q87.5 {source="Orphanet:1512", source="Orphanet:1512/attributed", source="Orphanet:1512/ntbt"} +xref: MESH:C536452 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} +xref: OMIM:218090 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} xref: Orphanet:1512 {source="OMIM:218090", source="MONDO:equivalentTo"} xref: SCTID:715991005 {source="MONDO:equivalentTo"} -xref: UMLS:C1857532 {source="OMIM:218090", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1512", source="ORDO:1512/e"} +xref: UMLS:C1857532 {source="OMIM:218090", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1512", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1512"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015335 {source="Orphanet:1512"} ! orofacial clefting syndrome @@ -168245,15 +168213,15 @@ synonym: "craniodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:218300] synonym: "Lionitis" EXACT [NCIT:C131429] xref: DOID:0080032 {source="MONDO:equivalentTo"} xref: GARD:0001567 {source="MONDO:equivalentTo"} -xref: ICD10CM:M85.2 {source="ORDO:1513/attributed", source="ORDO:1513/ntbt", source="Orphanet:1513"} +xref: ICD10CM:M85.2 {source="Orphanet:1513", source="Orphanet:1513/attributed", source="Orphanet:1513/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562940 {source="MONDO:equivalentTo"} xref: NCIT:C131429 {source="MONDO:equivalentTo"} -xref: OMIM:122860 {source="ORDO:1513/e", source="MONDO:directSiblingOf"} -xref: OMIM:218300 {source="ORDO:1513/btnt", source="MONDO:equivalentTo", source="Orphanet:1513"} +xref: OMIM:122860 {source="MONDO:directSiblingOf", source="Orphanet:1513/e"} +xref: OMIM:218300 {source="MONDO:equivalentTo", source="Orphanet:1513", source="Orphanet:1513/btnt"} xref: Orphanet:1513 {source="OMIM:218300", source="MONDO:equivalentTo", source="OMIM:122860"} xref: SCTID:205506004 {source="MONDO:equivalentTo"} -xref: UMLS:C0410539 {source="OMIM:218300", source="NCBI:mim2gene_medline", source="NCIT:C131429", source="MONDO:equivalentTo", source="ORDO:1513/e", source="Orphanet:1513"} +xref: UMLS:C0410539 {source="OMIM:218300", source="NCBI:mim2gene_medline", source="NCIT:C131429", source="MONDO:equivalentTo", source="Orphanet:1513", source="Orphanet:1513/e"} xref: UMLS:C2675746 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:122860"} is_a: MONDO:0002185 {source="NCIT:C131429"} ! hyperostosis is_a: MONDO:0015465 ! craniometaphyseal dysplasia @@ -168273,18 +168241,18 @@ synonym: "Levin syndrome" EXACT [DOID:0050577] synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515] xref: DOID:0050577 {source="MONDO:equivalentTo"} xref: GARD:0000359 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.5 {source="ORDO:1515/attributed", source="ORDO:1515/ntbt", source="Orphanet:1515"} +xref: ICD10CM:Q87.5 {source="Orphanet:1515/attributed", source="Orphanet:1515/ntbt", source="Orphanet:1515"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C129305 {source="MONDO:equivalentTo"} -xref: OMIM:218330 {source="DOID:0050577", source="MONDO:superClassOf", source="ORDO:1515/e", source="Orphanet:1515"} -xref: OMIM:613610 {source="ORDO:1515/btnt", source="DOID:0050577", source="MONDO:superClassOf", source="Orphanet:1515"} -xref: OMIM:614099 {source="ORDO:1515/btnt", source="MONDO:superClassOf", source="Orphanet:1515"} -xref: OMIM:614378 {source="ORDO:1515/btnt", source="MONDO:superClassOf", source="Orphanet:1515"} -xref: OMIM:617102 {source="ORDO:1515/btnt", source="MONDO:superClassOf", source="Orphanet:1515"} +xref: OMIM:218330 {source="Orphanet:1515/e", source="DOID:0050577", source="MONDO:superClassOf", source="Orphanet:1515"} +xref: OMIM:613610 {source="DOID:0050577", source="MONDO:superClassOf", source="Orphanet:1515/btnt", source="Orphanet:1515"} +xref: OMIM:614099 {source="MONDO:superClassOf", source="Orphanet:1515/btnt", source="Orphanet:1515"} +xref: OMIM:614378 {source="MONDO:superClassOf", source="Orphanet:1515/btnt", source="Orphanet:1515"} +xref: OMIM:617102 {source="MONDO:superClassOf", source="Orphanet:1515/btnt", source="Orphanet:1515"} xref: OMIMPS:218330 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="MONDO:equivalentTo", source="OMIM:218330"} xref: SCTID:254093009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1515/e", source="NCIT:C129305", source="Orphanet:1515", source="OMIM:218330"} +xref: UMLS:C0432235 {source="Orphanet:1515/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129305", source="Orphanet:1515", source="OMIM:218330"} xref: UMLS:CN016627 {source="MONDO:equivalentTo"} xref: UMLS:CN119432 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -168314,13 +168282,13 @@ synonym: "Temtamy-Shalash syndrome" EXACT [Orphanet:1777] synonym: "TEMTYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218340] xref: DOID:0111621 {source="MONDO:equivalentTo"} xref: GARD:0005688 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1777/attributed", source="ORDO:1777/ntbt", source="Orphanet:1777"} -xref: MESH:C536959 {source="MONDO:equivalentTo", source="ORDO:1777/e", source="Orphanet:1777"} +xref: ICD10CM:Q87.8 {source="Orphanet:1777", source="Orphanet:1777/attributed", source="Orphanet:1777/ntbt"} +xref: MESH:C536959 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"} xref: NCIT:C148371 {source="MONDO:equivalentTo"} -xref: OMIM:218340 {source="MONDO:equivalentTo", source="ORDO:1777/e", source="Orphanet:1777"} +xref: OMIM:218340 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"} xref: Orphanet:1777 {source="MONDO:equivalentTo", source="OMIM:218340"} xref: SCTID:719947004 {source="MONDO:equivalentTo"} -xref: UMLS:C1857512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1777/e", source="Orphanet:1777", source="OMIM:218340"} +xref: UMLS:C1857512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1777", source="OMIM:218340", source="Orphanet:1777/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1777", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1777"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019117 {source="MONDO:0017122-obsoleted"} ! genetic nervous system disorder @@ -168341,11 +168309,11 @@ synonym: "craniofacial dyssynostosis and short stature" RELATED [GARD:0001575] synonym: "craniofacial dyssynostosis with short stature" RELATED [OMIM:218350] synonym: "craniosynostosis-craniofacial dysostosis syndrome" RELATED [GARD:0001575] xref: GARD:0001575 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1516/attributed", source="ORDO:1516/ntbt", source="Orphanet:1516"} -xref: MESH:C536455 {source="MONDO:equivalentTo", source="Orphanet:1516", source="ORDO:1516/e"} -xref: OMIM:218350 {source="MONDO:equivalentTo", source="Orphanet:1516", source="ORDO:1516/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:1516", source="Orphanet:1516/attributed", source="Orphanet:1516/ntbt"} +xref: MESH:C536455 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"} +xref: OMIM:218350 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"} xref: Orphanet:1516 {source="MONDO:equivalentTo", source="OMIM:218350"} -xref: UMLS:C1857511 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1516", source="ORDO:1516/e", source="OMIM:218350"} +xref: UMLS:C1857511 {source="Orphanet:1516/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1516", source="OMIM:218350"} is_a: MONDO:0020018 {source="Orphanet:1516", source="Orphanet:1516/inferred"} ! cranial malformation is_a: MONDO:0021147 {source="Orphanet:1516", source="Orphanet:1516/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -168386,9 +168354,9 @@ synonym: "Pfeiffer-Singer-Zschiesche syndrome" EXACT [Orphanet:2872] synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586] synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872] xref: GARD:0008586 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2872", source="ORDO:2872/attributed", source="ORDO:2872/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2872", source="Orphanet:2872/attributed", source="Orphanet:2872/ntbt"} xref: MESH:C535578 {source="MONDO:equivalentTo"} -xref: OMIM:218450 {source="Orphanet:2872", source="ORDO:2872/e", source="MONDO:equivalentTo"} +xref: OMIM:218450 {source="Orphanet:2872", source="MONDO:equivalentTo", source="Orphanet:2872/e"} xref: Orphanet:2872 {source="MONDO:equivalentTo", source="OMIM:218450"} xref: SCTID:720606005 {source="MONDO:equivalentTo"} xref: UMLS:C1857495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218450"} @@ -168414,9 +168382,9 @@ def: "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, rep subset: ordo_malformation_syndrome {source="Orphanet:1533"} synonym: "craniosynostosis with fibular aplasia" RELATED [OMIM:218550] synonym: "Lowry syndrome" EXACT [Orphanet:1533] -xref: ICD10CM:Q87.2 {source="ORDO:1533/attributed", source="ORDO:1533/ntbt", source="Orphanet:1533"} +xref: ICD10CM:Q87.2 {source="Orphanet:1533", source="Orphanet:1533/attributed", source="Orphanet:1533/ntbt"} xref: MESH:C565665 {source="MONDO:equivalentTo"} -xref: OMIM:218550 {source="ORDO:1533/e", source="MONDO:equivalentTo", source="Orphanet:1533"} +xref: OMIM:218550 {source="MONDO:equivalentTo", source="Orphanet:1533", source="Orphanet:1533/e"} xref: Orphanet:1533 {source="MONDO:equivalentTo", source="OMIM:218550"} xref: SCTID:732250002 {source="MONDO:equivalentTo"} xref: UMLS:C1857492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1533", source="OMIM:218550"} @@ -168436,12 +168404,12 @@ synonym: "craniosynostosis with radial defects" RELATED [OMIM:218600] synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600] xref: DOID:0050654 {source="MONDO:equivalentTo"} xref: GARD:0001602 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="ORDO:1225/attributed", source="ORDO:1225/ntbt", source="Orphanet:1225"} -xref: MESH:C536788 {source="DOID:0050654", source="ORDO:1225/e", source="MONDO:equivalentTo", source="Orphanet:1225"} -xref: OMIM:218600 {source="DOID:0050654", source="ORDO:1225/e", source="MONDO:equivalentTo", source="Orphanet:1225"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:1225", source="Orphanet:1225/attributed", source="Orphanet:1225/ntbt"} +xref: MESH:C536788 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} +xref: OMIM:218600 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} xref: Orphanet:1225 {source="OMIM:218600", source="MONDO:equivalentTo"} xref: SCTID:77608001 {source="DOID:0050654", source="MONDO:equivalentTo"} -xref: UMLS:C0265308 {source="DOID:0050654", source="ORDO:1225/e", source="NCBI:mim2gene_medline", source="OMIM:218600", source="MONDO:equivalentTo", source="Orphanet:1225"} +xref: UMLS:C0265308 {source="DOID:0050654", source="NCBI:mim2gene_medline", source="OMIM:218600", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} is_a: MONDO:0015246 {source="Orphanet:1225"} ! syndromic anorectal malformation is_a: MONDO:0015338 {source="Orphanet:1225"} ! syndromic craniosynostosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9949 {source="mim2gene_medgen"} ! RECQL4 @@ -168496,12 +168464,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1528"} synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:0001605] synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670] xref: GARD:0001605 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:1528/attributed", source="ORDO:1528/ntbt", source="Orphanet:1528"} -xref: MESH:C535597 {source="MONDO:equivalentTo", source="ORDO:1528/e", source="Orphanet:1528"} -xref: OMIM:218670 {source="MONDO:equivalentTo", source="ORDO:1528/e", source="Orphanet:1528"} +xref: ICD10CM:Q04.3 {source="Orphanet:1528/attributed", source="Orphanet:1528/ntbt", source="Orphanet:1528"} +xref: MESH:C535597 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} +xref: OMIM:218670 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} xref: Orphanet:1528 {source="MONDO:equivalentTo", source="OMIM:218670"} xref: SCTID:715422002 {source="MONDO:equivalentTo"} -xref: UMLS:C1857471 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1528/e", source="OMIM:218670", source="Orphanet:1528"} +xref: UMLS:C1857471 {source="Orphanet:1528/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218670", source="Orphanet:1528"} is_a: MONDO:0015338 {source="Orphanet:1528"} ! syndromic craniosynostosis is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum disorders property_value: confidence "8.375" xsd:double @@ -168515,9 +168483,9 @@ subset: ordo_disease {source="Orphanet:3221"} synonym: "deafness-thyroid hormone resistance syndrome" NARROW [Orphanet:3221] synonym: "GRTH" EXACT ABBREVIATION [PMID:8475937] synonym: "Refetoff syndrome" EXACT [Orphanet:3221] -xref: ICD10CM:E07.8 {source="Orphanet:3221", source="ORDO:3221/attributed", source="ORDO:3221/ntbt"} -xref: OMIM:188570 {source="Orphanet:3221", source="MONDO:superClassOf", source="ORDO:3221/btnt"} -xref: OMIM:274300 {source="Orphanet:3221", source="MONDO:superClassOf", source="ORDO:3221/btnt"} +xref: ICD10CM:E07.8 {source="Orphanet:3221", source="Orphanet:3221/attributed", source="Orphanet:3221/ntbt"} +xref: OMIM:188570 {source="Orphanet:3221", source="Orphanet:3221/btnt", source="MONDO:superClassOf"} +xref: OMIM:274300 {source="Orphanet:3221", source="Orphanet:3221/btnt", source="MONDO:superClassOf"} xref: Orphanet:3221 {source="MONDO:equivalentTo"} xref: UMLS:C2940786 {source="Orphanet:3221", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3489796 {source="Orphanet:3221", source="MONDO:notFoundInDiseaseSubset"} @@ -168539,17 +168507,17 @@ synonym: "Crigler-Najjar syndrome, type I" EXACT EXCLUDE [DOID:3803] synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205] synonym: "UGT deficiency" EXACT [Orphanet:205] xref: DOID:3803 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.5 {source="ORDO:205/e", source="ORDO:205/specific", source="MONDO:equivalentTo"} -xref: MedDRA:10011386 {source="ORDO:205/e", source="Orphanet:205"} -xref: MESH:D003414 {source="ORDO:205/e", source="Orphanet:205", source="MONDO:equivalentTo", source="DOID:3803"} +xref: ICD10CM:E80.5 {source="MONDO:equivalentTo", source="Orphanet:205/e", source="Orphanet:205/specific"} +xref: MedDRA:10011386 {source="Orphanet:205", source="Orphanet:205/e"} +xref: MESH:D003414 {source="Orphanet:205", source="MONDO:equivalentTo", source="Orphanet:205/e", source="DOID:3803"} xref: NCIT:C84656 {source="MONDO:equivalentTo", source="DOID:3803"} -xref: OMIM:218800 {source="MONDO:superClassOf", source="ORDO:205/btnt"} -xref: OMIM:606785 {source="Orphanet:205", source="MONDO:superClassOf", source="ORDO:205/btnt"} +xref: OMIM:218800 {source="Orphanet:205/btnt", source="MONDO:superClassOf"} +xref: OMIM:606785 {source="Orphanet:205", source="Orphanet:205/btnt", source="MONDO:superClassOf"} xref: Orphanet:205 {source="MONDO:equivalentTo", source="OMIM:218800"} xref: SCTID:190933008 {source="DOID:3803"} xref: SCTID:28259009 {source="MONDO:equivalentTo", source="DOID:3803"} xref: SCTID:8933000 {source="MONDO:superClassOf", source="DOID:3803"} -xref: UMLS:C0010324 {source="NCIT:C84656", source="ORDO:205/e", source="Orphanet:205", source="MONDO:equivalentTo", source="OMIM:218800", source="DOID:3803", source="Orphanet:79234"} +xref: UMLS:C0010324 {source="NCIT:C84656", source="Orphanet:205", source="MONDO:equivalentTo", source="OMIM:218800", source="Orphanet:205/e", source="DOID:3803", source="Orphanet:79234"} xref: UMLS:CN119421 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C84656"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:218800", source="DOID:3803", source="MESH:D003414", source="NCIT:C84656"} ! hereditary hyperbilirubinemia @@ -168565,12 +168533,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1380"} synonym: "congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" RELATED [GARD:0001614] synonym: "crome syndrome" EXACT [OMIM:218900, Orphanet:1380] xref: GARD:0001614 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1380/attributed", source="ORDO:1380/ntbt", source="Orphanet:1380"} +xref: ICD10CM:Q87.8 {source="Orphanet:1380/attributed", source="Orphanet:1380/ntbt", source="Orphanet:1380"} xref: MESH:C536216 {source="MONDO:equivalentTo"} -xref: OMIM:218900 {source="MONDO:equivalentTo", source="ORDO:1380/e", source="Orphanet:1380"} +xref: OMIM:218900 {source="Orphanet:1380/e", source="MONDO:equivalentTo", source="Orphanet:1380"} xref: Orphanet:1380 {source="MONDO:equivalentTo", source="OMIM:218900"} xref: SCTID:722381004 {source="MONDO:equivalentTo"} -xref: UMLS:C0795914 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218900", source="ORDO:1380/e", source="Orphanet:1380"} +xref: UMLS:C0795914 {source="Orphanet:1380/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218900", source="Orphanet:1380"} is_a: MONDO:0000508 {source="Orphanet:1380"} ! syndromic intellectual disability is_a: MONDO:0019721 {source="Orphanet:1380"} ! syndromic renal or urinary tract malformation relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -168594,10 +168562,10 @@ synonym: "Meyer-Schwickerath's syndrome" RELATED [GARD:0006465] synonym: "Ulrich-Feichtiger syndrome" RELATED [GARD:0006465] xref: DOID:0090001 {source="MONDO:equivalentTo"} xref: GARD:0006465 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="DOID:0090001", source="Orphanet:2052", source="ORDO:2052/attributed", source="ORDO:2052/ntbt"} -xref: MESH:D058497 {source="MONDO:equivalentTo", source="Orphanet:2052", source="ORDO:2052/e"} +xref: ICD10CM:Q87.0 {source="DOID:0090001", source="Orphanet:2052/attributed", source="Orphanet:2052/ntbt", source="Orphanet:2052"} +xref: MESH:D058497 {source="Orphanet:2052/e", source="MONDO:equivalentTo", source="Orphanet:2052"} xref: NCIT:C118436 {source="MONDO:equivalentTo"} -xref: OMIM:219000 {source="DOID:0090001", source="MONDO:superClassOf", source="Orphanet:2052", source="ORDO:2052/e"} +xref: OMIM:219000 {source="Orphanet:2052/e", source="DOID:0090001", source="MONDO:superClassOf", source="Orphanet:2052"} xref: OMIMPS:219000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2052 {source="DOID:0090001", source="MONDO:equivalentTo", source="OMIM:219000"} xref: SCTID:204102004 {source="MONDO:equivalentTo"} @@ -168676,10 +168644,10 @@ synonym: "MMAD" RELATED ABBREVIATION [GARD:0010824] synonym: "primary bilateral macronodular adrenal hyperplasia" EXACT [Orphanet:189427] synonym: "primary macronodular adrenal hyperplasia" RELATED [GARD:0010824] xref: GARD:0010824 {source="MONDO:equivalentTo"} -xref: ICD10CM:E24.8 {source="ORDO:189427/attributed", source="ORDO:189427/ntbt", source="Orphanet:189427"} +xref: ICD10CM:E24.8 {source="Orphanet:189427", source="Orphanet:189427/attributed", source="Orphanet:189427/ntbt"} xref: MESH:C565662 {source="MONDO:equivalentTo"} -xref: OMIM:219080 {source="MONDO:superClassOf", source="Orphanet:189427", source="ORDO:189427/e", source="GARD:0010824"} -xref: OMIM:615954 {source="ORDO:189427/btnt", source="MONDO:superClassOf", source="Orphanet:189427"} +xref: OMIM:219080 {source="MONDO:superClassOf", source="Orphanet:189427", source="GARD:0010824", source="Orphanet:189427/e"} +xref: OMIM:615954 {source="MONDO:superClassOf", source="Orphanet:189427", source="Orphanet:189427/btnt"} xref: Orphanet:189427 {source="OMIM:219080", source="MONDO:equivalentTo", source="GARD:0010824"} xref: SCTID:720459002 {source="MONDO:equivalentTo"} xref: UMLS:C2062388 {source="MONDO:equivalentTo"} @@ -168716,19 +168684,19 @@ synonym: "pituitary dependent Cushing syndrome" EXACT [GARD:0012867] synonym: "pituitary-dependent Cushing syndrome" EXACT [Orphanet:96253] xref: DOID:7004 {source="MONDO:equivalentTo"} xref: GARD:0012867 {source="MONDO:equivalentTo"} -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="ORDO:96253/ntbt", source="Orphanet:96253"} -xref: ICD10CM:E24.0 {source="MONDO:relatedTo", source="ORDO:96253/e", source="Orphanet:96253"} -xref: MedDRA:10035109 {source="ORDO:96253/e", source="Orphanet:96253"} -xref: MESH:D047748 {source="MONDO:relatedTo", source="ORDO:96253/e", source="Orphanet:96253"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:96253/ntbt", source="Orphanet:96253"} +xref: ICD10CM:E24.0 {source="MONDO:relatedTo", source="Orphanet:96253/e", source="Orphanet:96253"} +xref: MedDRA:10035109 {source="Orphanet:96253/e", source="Orphanet:96253"} +xref: MESH:D047748 {source="MONDO:relatedTo", source="Orphanet:96253/e", source="Orphanet:96253"} xref: MESH:D049913 {source="DOID:7004", source="MONDO:equivalentTo"} xref: NCIT:C113210 {source="MONDO:equivalentTo"} xref: NCIT:C7462 {source="DOID:7004", source="MONDO:directSiblingOf"} -xref: OMIM:219090 {source="DOID:7004", source="MONDO:equivalentTo", source="ORDO:96253/e", source="Orphanet:96253"} +xref: OMIM:219090 {source="DOID:7004", source="Orphanet:96253/e", source="MONDO:equivalentTo", source="Orphanet:96253"} xref: Orphanet:96253 {source="OMIM:219090", source="MONDO:equivalentTo"} xref: SCTID:21109002 {source="DOID:7004"} xref: SCTID:254958004 {source="DOID:7004", source="MONDO:equivalentTo"} xref: UMLS:C0010481 {source="MONDO:subClassOf", source="Orphanet:96253"} -xref: UMLS:C0221406 {source="NCBI:mim2gene_medline", source="OMIM:219090", source="MONDO:equivalentTo", source="NCIT:C113210", source="ORDO:96253/e", source="Orphanet:96253"} +xref: UMLS:C0221406 {source="Orphanet:96253/e", source="NCBI:mim2gene_medline", source="OMIM:219090", source="MONDO:equivalentTo", source="NCIT:C113210", source="Orphanet:96253"} xref: UMLS:C1306214 {source="DOID:7004", source="OMIM:219090", source="MONDO:equivalentTo"} is_a: MONDO:0003429 {source="DOID:7004", source="Orphanet:96253"} ! functioning pituitary gland adenoma is_a: MONDO:0017824 {source="DOID:7004/inferred", source="MONDO:0009050/inferred", source="MONDO:Redundant", source="OMIM:219090", source="Orphanet:96253/inferred", source="linkedlifedata"} ! familial isolated pituitary adenoma @@ -168745,11 +168713,11 @@ subset: ordo_disease {source="Orphanet:2881"} synonym: "cutaneous photosensitivity and colitis, lethal" RELATED [OMIM:219095] synonym: "early cutaneous photosensitivity and severe colitis" RELATED [GARD:0001633] xref: GARD:0001633 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L57.8 {source="Orphanet:2881", source="ORDO:2881/ntbt"} -xref: MESH:C536224 {source="Orphanet:2881", source="ORDO:2881/e", source="MONDO:equivalentTo"} -xref: OMIM:219095 {source="Orphanet:2881", source="ORDO:2881/e", source="MONDO:equivalentTo"} +xref: ICD10CM:L57.8 {source="Orphanet:2881", source="Orphanet:2881/ntbt"} +xref: MESH:C536224 {source="Orphanet:2881", source="MONDO:equivalentTo", source="Orphanet:2881/e"} +xref: OMIM:219095 {source="Orphanet:2881", source="MONDO:equivalentTo", source="Orphanet:2881/e"} xref: Orphanet:2881 {source="MONDO:equivalentTo", source="OMIM:219095"} -xref: UMLS:C1857449 {source="Orphanet:2881", source="ORDO:2881/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:219095"} +xref: UMLS:C1857449 {source="Orphanet:2881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2881/e", source="OMIM:219095"} is_a: MONDO:0005265 {source="Orphanet:2881"} ! inflammatory bowel disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015187"} ! rare property_value: confidence "3.533333333333334" xsd:double @@ -168771,7 +168739,7 @@ xref: Orphanet:90349 {source="MONDO:subClassOf", source="OMIM:219100"} xref: SCTID:59451000 {source="MONDO:equivalentTo"} xref: UMLS:C0268351 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:219100"} xref: UMLS:CN033664 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019572 {source="DOID:0070135", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1 +is_a: MONDO:0019572 {source="DOID:0070135", source="Orphanet:90349/btnt"} ! autosomal recessive cutis laxa type 1 is_a: MONDO:0100237 {source="DOID:0070135/inferred", source="MESH:C562628", source="MONDO:Redundant", source="OMIM:219100", source="OMIM:219100/inferred", source="linkedlifedata/inferred"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3327 ! ELN @@ -168798,9 +168766,9 @@ synonym: "P5CS deficiency" BROAD [Orphanet:35664] synonym: "progeroid syndrome of De Barsy" RELATED [OMIM:219150] xref: DOID:0070132 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="DOID:0070132"} -xref: ICD10CM:Q87.8 {source="ORDO:35664/attributed", source="ORDO:35664/ntbt", source="Orphanet:35664"} +xref: ICD10CM:Q87.8 {source="Orphanet:35664/attributed", source="Orphanet:35664/ntbt", source="Orphanet:35664"} xref: ICD9:371.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:219150 {source="DOID:0070132", source="MONDO:equivalentTo", source="ORDO:35664/e", source="Orphanet:35664"} +xref: OMIM:219150 {source="DOID:0070132", source="Orphanet:35664/e", source="MONDO:equivalentTo", source="Orphanet:35664"} xref: Orphanet:2962 {source="MONDO:subClassOf", source="OMIM:219150"} xref: Orphanet:35664 {source="DOID:0070132", source="MONDO:equivalentTo", source="OMIM:219150"} xref: SCTID:59252009 {source="MONDO:equivalentTo"} @@ -168827,9 +168795,9 @@ synonym: "autosomal recessive cutis laxa type 2, Debré type" EXACT [Orphanet:35 synonym: "autosomal recessive cutis laxa type II classic type" RELATED [DOID:0070141] xref: DOID:0070136 {source="MONDO:equivalentTo"} xref: DOID:0070141 {source="MONDO:relatedTo"} -xref: ICD10CM:Q82.8 {source="DOID:0070141", source="ORDO:357074/attributed", source="ORDO:357074/ntbt", source="DOID:0070136", source="Orphanet:357074"} +xref: ICD10CM:Q82.8 {source="DOID:0070141", source="DOID:0070136", source="Orphanet:357074/attributed", source="Orphanet:357074/ntbt", source="Orphanet:357074"} xref: MESH:C562632 {source="MONDO:equivalentTo"} -xref: OMIM:219200 {source="MONDO:subClassOf", source="ORDO:357074/e", source="Orphanet:357074"} +xref: OMIM:219200 {source="MONDO:subClassOf", source="Orphanet:357074/e", source="Orphanet:357074"} xref: OMIM:614434 {source="DOID:0070136", source="MONDO:directSiblingOf"} xref: OMIM:617402 {source="MONDO:superClassOf", source="Orphanet:357074"} xref: OMIM:617403 {source="MONDO:superClassOf", source="Orphanet:357074"} @@ -168855,13 +168823,13 @@ synonym: "hereditary cutis marmorata telangiectatica congenita" RELATED [GARD:00 synonym: "Van Lohuizen syndrome" RELATED [GARD:0006228] xref: GARD:0006228 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0025107 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q82.8 {source="ORDO:1556/ntbt", source="Orphanet:1556"} +xref: ICD10CM:Q82.8 {source="Orphanet:1556", source="Orphanet:1556/ntbt"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536226 {source="MONDO:equivalentTo", source="Orphanet:1556", source="ORDO:1556/e"} -xref: OMIM:219250 {source="MONDO:equivalentTo", source="Orphanet:1556", source="ORDO:1556/e"} +xref: MESH:C536226 {source="MONDO:equivalentTo", source="Orphanet:1556", source="Orphanet:1556/e"} +xref: OMIM:219250 {source="MONDO:equivalentTo", source="Orphanet:1556", source="Orphanet:1556/e"} xref: Orphanet:1556 {source="MONDO:equivalentTo", source="OMIM:219250"} xref: SCTID:254778000 {source="MONDO:equivalentTo"} -xref: UMLS:C0345419 {source="NCBI:mim2gene_medline", source="Orphanet:1556", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1556/e", source="OMIM:219250"} +xref: UMLS:C0345419 {source="NCBI:mim2gene_medline", source="Orphanet:1556", source="MONDO:notFoundInDiseaseSubset", source="OMIM:219250", source="Orphanet:1556/e"} is_a: MONDO:0016231 {source="Orphanet:1556"} ! capillary malformation is_a: MONDO:0019293 {source="MESH:C536226", source="Orphanet:1556", source="linkedlifedata/inferred"} ! skin vascular disease property_value: confidence "8.375" xsd:double @@ -168904,14 +168872,14 @@ xref: DOID:0090142 {source="MONDO:equivalentTo"} xref: GARD:0002428 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:2428 {source="DOID:0090142"} xref: HP:0003153 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E72.1 {source="DOID:0090142", source="ORDO:212/inclusion", source="ORDO:212/ntbt", source="Orphanet:212"} -xref: MESH:C535408 {source="DOID:0090142", source="ORDO:212/e", source="Orphanet:212"} +xref: ICD10CM:E72.1 {source="DOID:0090142", source="Orphanet:212/ntbt", source="Orphanet:212/inclusion", source="Orphanet:212"} +xref: MESH:C535408 {source="DOID:0090142", source="Orphanet:212/e", source="Orphanet:212"} xref: NCIT:C129070 {source="MONDO:equivalentTo"} -xref: OMIM:219500 {source="DOID:0090142", source="MONDO:equivalentTo", source="ORDO:212/e", source="Orphanet:212"} +xref: OMIM:219500 {source="DOID:0090142", source="Orphanet:212/e", source="MONDO:equivalentTo", source="Orphanet:212"} xref: Orphanet:212 {source="DOID:0090142", source="OMIM:219500", source="MONDO:equivalentTo"} xref: SCTID:13003007 {source="MONDO:equivalentTo"} -xref: UMLS:C0220993 {source="DOID:0090142", source="OMIM:219500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129070", source="ORDO:212/e", source="Orphanet:212"} -xref: UMLS:C0268616 {source="DOID:0090142", source="MONDO:equivalentTo", source="ORDO:212/e", source="Orphanet:212"} +xref: UMLS:C0220993 {source="DOID:0090142", source="OMIM:219500", source="Orphanet:212/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129070", source="Orphanet:212"} +xref: UMLS:C0268616 {source="DOID:0090142", source="Orphanet:212/e", source="MONDO:equivalentTo", source="Orphanet:212"} xref: UMLS:C3495552 {source="OMIM:219500", source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0090142", source="indirect"} ! inherited amino acid metabolic disorder is_a: MONDO:0019222 {source="Orphanet:212", source="linkedlifedata"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism @@ -168951,21 +168919,21 @@ synonym: "pseudomonas aeruginosa, susceptibility to chronic infection by, in cys xref: DOID:1485 {source="MONDO:equivalentTo"} xref: GARD:0006233 {source="MONDO:equivalentTo"} xref: ICD10CM:E84 {source="DOID:1485", source="MONDO:equivalentTo"} -xref: ICD10CM:E84.0 {source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"} -xref: ICD10CM:E84.1 {source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"} -xref: ICD10CM:E84.8 {source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"} -xref: ICD10CM:E84.9 {source="DOID:1485", source="ORDO:586/specific", source="ORDO:586/btnt", source="Orphanet:586"} +xref: ICD10CM:E84.0 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"} +xref: ICD10CM:E84.1 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"} +xref: ICD10CM:E84.8 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"} +xref: ICD10CM:E84.9 {source="Orphanet:586/specific", source="DOID:1485", source="Orphanet:586/btnt", source="Orphanet:586"} xref: ICD9:277.0 {source="DOID:1485"} -xref: MedDRA:10011762 {source="ORDO:586/e", source="Orphanet:586"} -xref: MESH:D003550 {source="DOID:1485", source="MONDO:equivalentTo", source="ORDO:586/e", source="Orphanet:586"} +xref: MedDRA:10011762 {source="Orphanet:586/e", source="Orphanet:586"} +xref: MESH:D003550 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"} xref: NCIT:C2975 {source="DOID:1485", source="MONDO:equivalentTo"} -xref: OMIM:219700 {source="DOID:1485", source="MONDO:equivalentTo", source="ORDO:586/e", source="Orphanet:586"} +xref: OMIM:219700 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"} xref: Orphanet:586 {source="OMIM:219700", source="MONDO:equivalentTo"} xref: SCTID:154767009 {source="DOID:1485"} xref: SCTID:190905008 {source="DOID:1485", source="MONDO:equivalentTo"} xref: SCTID:190911006 {source="DOID:1485"} xref: SCTID:85809002 {source="DOID:1485"} -xref: UMLS:C0010674 {source="DOID:1485", source="NCBI:mim2gene_medline", source="OMIM:219700", source="MONDO:equivalentTo", source="NCIT:C2975", source="ORDO:586/e", source="Orphanet:586"} +xref: UMLS:C0010674 {source="DOID:1485", source="Orphanet:586/e", source="NCBI:mim2gene_medline", source="OMIM:219700", source="MONDO:equivalentTo", source="NCIT:C2975", source="Orphanet:586"} is_a: MONDO:0003847 {source="DOID:1485/inferred", source="MESH:D003550", source="MONDO:Redundant", source="NCIT:C2975", source="Orphanet:586/inferred"} ! Mendelian disease is_a: MONDO:0005087 {comment="Orphanet:586"} ! respiratory system disorder is_a: MONDO:0006025 {source="DOID:1485", source="MONDO:Redundant"} ! autosomal recessive disease @@ -168992,10 +168960,10 @@ synonym: "Lubani Al Saleh Teebi syndrome" RELATED [GARD:0003303] synonym: "Lubani-Al Saleh-Teebi syndrome" EXACT [Orphanet:2575] xref: GARD:0003303 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C537039 {source="MONDO:equivalentTo"} -xref: OMIM:219721 {source="Orphanet:2575", source="ORDO:2575/e", source="MONDO:equivalentTo"} +xref: OMIM:219721 {source="Orphanet:2575", source="MONDO:equivalentTo", source="Orphanet:2575/e"} xref: Orphanet:2575 {source="OMIM:219721", source="MONDO:equivalentTo"} xref: SCTID:720401009 {source="MONDO:equivalentTo"} -xref: UMLS:C2931402 {source="Orphanet:2575", source="ORDO:2575/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931402 {source="Orphanet:2575", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2575/e"} xref: UMLS:C3806255 {source="OMIM:219721", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015111 {source="Orphanet:2575"} ! gastroesophageal disease is_a: MONDO:0015617 {source="Orphanet:2575"} ! genetic gastro-esophageal disease @@ -169009,7 +168977,7 @@ synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [Orphan synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical, OMIM:219730] synonym: "VMCKD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219730, Orphanet:443988] xref: DOID:0111625 {source="MONDO:equivalentTo"} -xref: OMIM:219730 {source="MONDO:equivalentTo", source="ORDO:443988/e", source="Orphanet:443988"} +xref: OMIM:219730 {source="MONDO:equivalentTo", source="Orphanet:443988", source="Orphanet:443988/e"} xref: Orphanet:443988 {source="MONDO:equivalentTo"} xref: UMLS:C1857423 {source="OMIM:219730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:443988"} is_a: MONDO:0019741 {source="Orphanet:443988"} ! familial cystic renal disease @@ -169027,9 +168995,9 @@ synonym: "cystinosis, benign Nonnephropathic" RELATED [OMIM:219750] synonym: "cystinosis, ocular Nonnephropathic" RELATED [OMIM:219750] synonym: "non-nephropathic cystinosis" EXACT [Orphanet:411641] synonym: "ocular cystinosis" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:E72.0 {source="Orphanet:411641", source="ORDO:411641/attributed", source="ORDO:411641/ntbt"} +xref: ICD10CM:E72.0 {source="Orphanet:411641", source="Orphanet:411641/attributed", source="Orphanet:411641/ntbt"} xref: MESH:C535765 {source="MONDO:equivalentTo"} -xref: OMIM:219750 {source="Orphanet:411641", source="ORDO:411641/e", source="MONDO:equivalentTo"} +xref: OMIM:219750 {source="Orphanet:411641", source="MONDO:equivalentTo", source="Orphanet:411641/e"} xref: Orphanet:213 {source="MONDO:subClassOf", source="OMIM:219750"} xref: Orphanet:411641 {source="MONDO:equivalentTo", source="OMIM:219750"} xref: UMLS:C1857413 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -169059,10 +169027,10 @@ synonym: "intermediate cystinosis" EXACT [Orphanet:411634] synonym: "juvenile cystinosis" EXACT [Orphanet:411634] synonym: "juvenile nephropathic cystinosis" EXACT CLINGEN_PREFERRED [] xref: EFO:0009049 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E72.0+ {source="Orphanet:411634", source="ORDO:411634/attributed", source="ORDO:411634/ntbt"} -xref: ICD10EXP:N16.3* {source="Orphanet:411634", source="ORDO:411634/attributed", source="ORDO:411634/ntbt"} +xref: ICD10EXP:E72.0+ {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} +xref: ICD10EXP:N16.3* {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} xref: MESH:C562683 {source="MONDO:equivalentTo"} -xref: OMIM:219900 {source="Orphanet:411634", source="ORDO:411634/e", source="MONDO:equivalentTo"} +xref: OMIM:219900 {source="Orphanet:411634", source="MONDO:equivalentTo", source="Orphanet:411634/e"} xref: Orphanet:213 {source="MONDO:subClassOf", source="OMIM:219900"} xref: Orphanet:411634 {source="MONDO:equivalentTo", source="OMIM:219900"} xref: SCTID:22830006 {source="MONDO:equivalentTo"} @@ -169100,20 +169068,20 @@ synonym: "cystinuria-lysinuria syndrome" EXACT [Orphanet:214] xref: DOID:9266 {source="MONDO:equivalentTo"} xref: GARD:0006237 {source="MONDO:equivalentTo"} xref: HP:0003131 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E72.0 {source="Orphanet:214", source="ORDO:214/inclusion", source="ORDO:214/ntbt"} +xref: ICD10CM:E72.0 {source="Orphanet:214", source="Orphanet:214/ntbt", source="Orphanet:214/inclusion"} xref: ICD10CM:E72.01 {source="DOID:9266"} -xref: MedDRA:10011778 {source="Orphanet:214", source="ORDO:214/e"} -xref: MESH:D003555 {source="Orphanet:214", source="MONDO:equivalentTo", source="DOID:9266", source="ORDO:214/e"} +xref: MedDRA:10011778 {source="Orphanet:214", source="Orphanet:214/e"} +xref: MESH:D003555 {source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"} xref: NCIT:C84664 {source="MONDO:equivalentTo", source="DOID:9266"} -xref: OMIM:220100 {source="GARD:0006237", source="Orphanet:214", source="MONDO:equivalentTo", source="DOID:9266", source="ORDO:214/e"} +xref: OMIM:220100 {source="GARD:0006237", source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"} xref: Orphanet:214 {source="GARD:0006237", source="MONDO:equivalentTo", source="OMIM:220100"} xref: Orphanet:93612 {source="MONDO:superClassOf", source="OMIM:220100"} xref: Orphanet:93613 {source="MONDO:superClassOf", source="OMIM:220100"} xref: SCTID:154738008 {source="DOID:9266"} xref: SCTID:267498002 {source="DOID:9266"} xref: SCTID:85020001 {source="MONDO:equivalentTo", source="DOID:9266"} -xref: UMLS:C0010691 {source="GARD:0006237", source="Orphanet:214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220100", source="DOID:9266", source="NCIT:C84664", source="ORDO:214/e"} -xref: UMLS:C0268646 {source="Orphanet:214", source="MONDO:notFoundInDiseaseSubset", source="ORDO:214/e"} +xref: UMLS:C0010691 {source="GARD:0006237", source="Orphanet:214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:214/e", source="OMIM:220100", source="DOID:9266", source="NCIT:C84664"} +xref: UMLS:C0268646 {source="Orphanet:214", source="Orphanet:214/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1857388 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:220100"} xref: UMLS:C1857389 {source="MONDO:superClassOf", source="OMIM:220100"} xref: UMLS:C1857390 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:220100"} @@ -169147,10 +169115,10 @@ synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, O synonym: "mitochondrial complex IV deficiency, nuclear type 1" EXACT [OMIM:220110, OMIM:genemap2] xref: DOID:3762 {source="MONDO:equivalentTo"} xref: GARD:0000048 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:254905/attributed", source="ORDO:254905/ntbt", source="Orphanet:254905"} +xref: ICD10CM:E88.8 {source="Orphanet:254905/attributed", source="Orphanet:254905/ntbt", source="Orphanet:254905"} xref: MESH:D030401 {source="DOID:3762", source="MONDO:equivalentTo"} xref: NCIT:C98910 {source="DOID:3762", source="MONDO:equivalentTo"} -xref: OMIM:220110 {source="DOID:3762", source="GARD:0000048", source="MONDO:equivalentTo", source="Orphanet:254905", source="ORDO:254905/e"} +xref: OMIM:220110 {source="DOID:3762", source="GARD:0000048", source="Orphanet:254905/e", source="MONDO:equivalentTo", source="Orphanet:254905"} xref: Orphanet:254905 {source="MONDO:equivalentTo", source="OMIM:220110"} xref: SCTID:124199009 {source="DOID:3762"} xref: SCTID:237991006 {source="DOID:3762"} @@ -169183,9 +169151,9 @@ synonym: "LSFC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220111] synonym: "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" EXACT [OMIM:220111, OMIM:genemap2] synonym: "SLSJ-COX deficiency" EXACT [Orphanet:70472] xref: GARD:0008370 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G31.8 {source="Orphanet:70472", source="ORDO:70472/attributed", source="ORDO:70472/ntbt"} +xref: ICD10CM:G31.8 {source="Orphanet:70472/attributed", source="Orphanet:70472/ntbt", source="Orphanet:70472"} xref: MESH:C537004 {source="MONDO:equivalentTo"} -xref: OMIM:220111 {source="Orphanet:70472", source="MONDO:equivalentTo", source="ORDO:70472/e"} +xref: OMIM:220111 {source="Orphanet:70472", source="MONDO:equivalentTo", source="Orphanet:70472/e"} xref: Orphanet:506 {source="MONDO:subClassOf", source="OMIM:220111"} xref: Orphanet:70472 {source="MONDO:equivalentTo", source="OMIM:220111"} xref: SCTID:718219002 {source="MONDO:equivalentTo"} @@ -169210,14 +169178,14 @@ synonym: "glycerate kinase deficiency" RELATED [OMIM:220120] synonym: "non ketotic hyperglycinemia syndrome" RELATED [GARD:0000234] xref: DOID:0111626 {source="MONDO:equivalentTo"} xref: GARD:0000234 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.8 {source="Orphanet:941", source="ORDO:941/attributed", source="ORDO:941/ntbt"} -xref: MESH:C535767 {source="Orphanet:941", source="MONDO:equivalentTo", source="ORDO:941/e"} +xref: ICD10CM:E74.8 {source="Orphanet:941/attributed", source="Orphanet:941/ntbt", source="Orphanet:941"} +xref: MESH:C535767 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"} xref: NCIT:C128804 {source="MONDO:equivalentTo"} -xref: OMIM:220120 {source="Orphanet:941", source="MONDO:equivalentTo", source="ORDO:941/e"} +xref: OMIM:220120 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"} xref: Orphanet:941 {source="MONDO:equivalentTo", source="OMIM:220120"} xref: SCTID:237980004 {source="MONDO:equivalentTo"} xref: UMLS:C0342765 {source="MONDO:equivalentTo", source="OMIM:220120", source="NCIT:C128804"} -xref: UMLS:C1291386 {source="Orphanet:941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220120", source="ORDO:941/e"} +xref: UMLS:C1291386 {source="Orphanet:941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220120", source="Orphanet:941/e"} is_a: MONDO:0005066 {source="DOID:0111626", source="GARD:0000234", source="https://www.clinicalgenome.org/affiliation/40049/"} ! metabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24247 {source="mim2gene_medgen"} ! GLYCTK relationship: excluded_subClassOf MONDO:0017703 {source="Orphanet:941"} ! disorder of glyoxylate metabolism @@ -169235,10 +169203,10 @@ synonym: "renal hypouricemia" RELATED [OMIM:220150] xref: GARD:0009496 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:790.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537757 {source="MONDO:equivalentTo"} -xref: OMIM:220150 {source="Orphanet:94088", source="MONDO:superClassOf", source="ORDO:94088/e"} -xref: OMIM:242050 {source="Orphanet:94088", source="MONDO:superClassOf", source="ORDO:94088/btnt"} -xref: OMIM:307830 {source="Orphanet:94088", source="MONDO:superClassOf", source="ORDO:94088/btnt"} -xref: OMIM:612076 {source="Orphanet:94088", source="MONDO:superClassOf", source="ORDO:94088/btnt"} +xref: OMIM:220150 {source="Orphanet:94088", source="Orphanet:94088/e", source="MONDO:superClassOf"} +xref: OMIM:242050 {source="Orphanet:94088", source="Orphanet:94088/btnt", source="MONDO:superClassOf"} +xref: OMIM:307830 {source="Orphanet:94088", source="Orphanet:94088/btnt", source="MONDO:superClassOf"} +xref: OMIM:612076 {source="Orphanet:94088", source="Orphanet:94088/btnt", source="MONDO:superClassOf"} xref: Orphanet:94088 {source="OMIM:220150", source="MONDO:equivalentTo"} xref: SCTID:236478009 {source="MONDO:equivalentTo"} xref: UMLS:C0473219 {source="OMIM:220150", source="NCBI:mim2gene_medline"} @@ -169264,11 +169232,11 @@ synonym: "mega cisterna magna (type of DW complex)" RELATED [GARD:0006242] xref: DOID:2785 {source="EFO:1000890", source="MONDO:equivalentTo"} xref: EFO:1000890 {source="MONDO:equivalentTo"} xref: GARD:0006242 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q03.1 {source="DOID:2785", source="Orphanet:217", source="ORDO:217/inclusion", source="ORDO:217/ntbt"} +xref: ICD10CM:Q03.1 {source="Orphanet:217/inclusion", source="Orphanet:217/ntbt", source="DOID:2785", source="Orphanet:217"} xref: MedDRA:10048411 {source="EFO:1000890"} xref: MESH:D003616 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"} xref: NCIT:C75012 {source="DOID:2785", source="MONDO:equivalentTo"} -xref: OMIM:220200 {source="ORDO:217/e", source="DOID:2785", source="Orphanet:217", source="MONDO:equivalentTo"} +xref: OMIM:220200 {source="DOID:2785", source="Orphanet:217", source="MONDO:equivalentTo", source="Orphanet:217/e"} xref: Orphanet:217 {source="MONDO:equivalentTo", source="OMIM:220200"} xref: SCTID:14447001 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"} xref: SCTID:204063009 {source="DOID:2785"} @@ -169313,9 +169281,9 @@ def: "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome subset: ordo_malformation_syndrome {source="Orphanet:1970"} synonym: "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [OMIM:220219] synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED DEPRECATED [OMIM:220219] -xref: ICD10CM:Q87.8 {source="Orphanet:1970", source="ORDO:1970/attributed", source="ORDO:1970/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1970", source="Orphanet:1970/attributed", source="Orphanet:1970/ntbt"} xref: MESH:C535985 {source="MONDO:equivalentTo"} -xref: OMIM:220219 {source="Orphanet:1970", source="ORDO:1970/e", source="MONDO:equivalentTo"} +xref: OMIM:220219 {source="Orphanet:1970", source="MONDO:equivalentTo", source="Orphanet:1970/e"} xref: Orphanet:1970 {source="OMIM:220219", source="MONDO:equivalentTo"} xref: UMLS:C1857352 {source="OMIM:220219", source="Orphanet:1970", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1970", source="indirect"} ! syndromic intellectual disability @@ -169334,12 +169302,12 @@ synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [OMIM:22 synonym: "DWM with postaxial polydactyly" EXACT [OMIM:220220, Orphanet:1566] synonym: "Pierquin syndrome" EXACT [OMIM:220220, Orphanet:1566] xref: GARD:0001669 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1566/attributed", source="ORDO:1566/ntbt", source="Orphanet:1566"} -xref: MESH:C535771 {source="ORDO:1566/e", source="MONDO:equivalentTo", source="Orphanet:1566"} -xref: OMIM:220220 {source="ORDO:1566/e", source="MONDO:equivalentTo", source="Orphanet:1566"} +xref: ICD10CM:Q87.8 {source="Orphanet:1566", source="Orphanet:1566/attributed", source="Orphanet:1566/ntbt"} +xref: MESH:C535771 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"} +xref: OMIM:220220 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"} xref: Orphanet:1566 {source="MONDO:equivalentTo", source="OMIM:220220"} xref: SCTID:733094005 {source="MONDO:equivalentTo"} -xref: UMLS:C1857351 {source="ORDO:1566/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220220", source="Orphanet:1566"} +xref: UMLS:C1857351 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220220", source="Orphanet:1566", source="Orphanet:1566/e"} is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:1566", source="Orphanet:1566/inferred"} ! genetic nervous system disorder is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation @@ -169422,9 +169390,9 @@ synonym: "drc syndrome" RELATED [OMIM:220500] synonym: "Eronen syndrome" RELATED [OMIM:220500] xref: DOID:0111627 {source="MONDO:equivalentTo"} xref: GARD:0001685 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:79500/attributed", source="ORDO:79500/ntbt", source="Orphanet:79500"} +xref: ICD10CM:Q87.8 {source="Orphanet:79500/attributed", source="Orphanet:79500/ntbt", source="Orphanet:79500"} xref: MESH:C563052 {source="MONDO:equivalentTo"} -xref: OMIM:220500 {source="GARD:0001685", source="MONDO:equivalentTo", source="ORDO:79500/e", source="Orphanet:79500"} +xref: OMIM:220500 {source="GARD:0001685", source="Orphanet:79500/e", source="MONDO:equivalentTo", source="Orphanet:79500"} xref: Orphanet:3231 {source="MONDO:subClassOf", source="OMIM:220500"} xref: Orphanet:79500 {source="GARD:0001685", source="MONDO:equivalentTo", source="OMIM:220500"} xref: SCTID:719800009 {source="MONDO:equivalentTo"} @@ -169448,9 +169416,9 @@ synonym: "split hand-split foot-deafness syndrome" RELATED [Orphanet:71271] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss" EXACT [OMIM:220600, OMIM:genemap2] synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical, OMIM:220600] xref: DOID:0090024 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:71271/attributed", source="ORDO:71271/ntbt", source="DOID:0090024", source="Orphanet:71271"} +xref: ICD10CM:Q87.2 {source="Orphanet:71271/attributed", source="Orphanet:71271/ntbt", source="DOID:0090024", source="Orphanet:71271"} xref: MESH:C565647 {source="MONDO:equivalentTo"} -xref: OMIM:220600 {source="MONDO:equivalentTo", source="DOID:0090024", source="ORDO:71271/e", source="Orphanet:71271"} +xref: OMIM:220600 {source="Orphanet:71271/e", source="MONDO:equivalentTo", source="DOID:0090024", source="Orphanet:71271"} xref: Orphanet:71271 {source="MONDO:equivalentTo", source="DOID:0090024", source="OMIM:220600"} xref: SCTID:723611008 {source="MONDO:equivalentTo"} xref: UMLS:C1857344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:220600", source="Orphanet:71271"} @@ -169489,8 +169457,8 @@ synonym: "DFNMYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221200] synonym: "high myopia-sensorineural deafness syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0111628 {source="MONDO:equivalentTo"} xref: GARD:0012844 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H90.5 {source="Orphanet:363396", source="ORDO:363396/attributed", source="ORDO:363396/ntbt"} -xref: OMIM:221200 {source="ORDO:363396/e", source="Orphanet:363396", source="MONDO:equivalentTo"} +xref: ICD10CM:H90.5 {source="Orphanet:363396/attributed", source="Orphanet:363396/ntbt", source="Orphanet:363396"} +xref: OMIM:221200 {source="Orphanet:363396", source="MONDO:equivalentTo", source="Orphanet:363396/e"} xref: Orphanet:363396 {source="MONDO:equivalentTo", source="OMIM:221200"} xref: SCTID:720506002 {source="MONDO:equivalentTo"} xref: UMLS:C1857342 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -169515,7 +169483,7 @@ synonym: "familial congenital moderate neural hearing loss" RELATED [GARD:000146 synonym: "Mengel-Konigsmark syndrome" EXACT [Orphanet:3216] xref: GARD:0001460 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C565644 {source="MONDO:equivalentTo"} -xref: OMIM:221300 {source="ORDO:3216/e", source="MONDO:equivalentTo", source="Orphanet:3216"} +xref: OMIM:221300 {source="MONDO:equivalentTo", source="Orphanet:3216", source="Orphanet:3216/e"} xref: Orphanet:3216 {source="MONDO:equivalentTo", source="OMIM:221300"} xref: UMLS:C1857341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3216", source="OMIM:221300"} xref: UMLS:C2931454 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3216"} @@ -169533,11 +169501,11 @@ synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [OMI synonym: "Jackson Barr syndrome" RELATED [GARD:0000305] synonym: "Jackson-Barr syndrome" EXACT [Orphanet:3236] xref: GARD:0000305 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C535993 {source="ORDO:3236/e", source="Orphanet:3236", source="MONDO:equivalentTo"} -xref: OMIM:221320 {source="ORDO:3236/e", source="Orphanet:3236", source="MONDO:equivalentTo"} +xref: MESH:C535993 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"} +xref: OMIM:221320 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"} xref: Orphanet:3236 {source="MONDO:equivalentTo", source="OMIM:221320"} xref: SCTID:763213001 {source="MONDO:equivalentTo"} -xref: UMLS:C1857340 {source="ORDO:3236/e", source="NCBI:mim2gene_medline", source="Orphanet:3236", source="MONDO:equivalentTo", source="OMIM:221320"} +xref: UMLS:C1857340 {source="NCBI:mim2gene_medline", source="Orphanet:3236", source="MONDO:equivalentTo", source="OMIM:221320", source="Orphanet:3236/e"} is_a: MONDO:0019287 {source="Orphanet:3236"} ! ectodermal dysplasia syndrome relationship: disease_has_major_feature HP:0000405 ! Conductive hearing impairment property_value: confidence "8.6" xsd:double @@ -169552,9 +169520,9 @@ synonym: "congenital deafness with vitiligo and achalasia" RELATED [GARD:0001705 synonym: "deafness vitiligo achalasia" RELATED [GARD:0001705] synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [OMIM:221350] xref: GARD:0001705 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3239/attributed", source="ORDO:3239/ntbt", source="Orphanet:3239"} +xref: ICD10CM:Q87.8 {source="Orphanet:3239", source="Orphanet:3239/attributed", source="Orphanet:3239/ntbt"} xref: MESH:C565642 {source="MONDO:equivalentTo"} -xref: OMIM:221350 {source="MONDO:equivalentTo", source="Orphanet:3239", source="ORDO:3239/e", source="GARD:0001705"} +xref: OMIM:221350 {source="MONDO:equivalentTo", source="Orphanet:3239", source="Orphanet:3239/e", source="GARD:0001705"} xref: Orphanet:3239 {source="OMIM:221350", source="MONDO:equivalentTo", source="GARD:0001705"} xref: UMLS:C1857339 {source="NCBI:mim2gene_medline", source="OMIM:221350", source="MONDO:equivalentTo", source="Orphanet:3239"} is_a: MONDO:0003847 {source="Orphanet:3239/inferred"} ! Mendelian disease @@ -169572,7 +169540,7 @@ synonym: "Groll-Hirschowitz syndrome" EXACT [OMIM:221400, Orphanet:3217] synonym: "nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [GARD:0002568] xref: GARD:0002568 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537305 {source="MONDO:equivalentTo"} -xref: OMIM:221400 {source="MONDO:equivalentTo", source="Orphanet:3217", source="ORDO:3217/e"} +xref: OMIM:221400 {source="MONDO:equivalentTo", source="Orphanet:3217", source="Orphanet:3217/e"} xref: Orphanet:3217 {source="MONDO:equivalentTo", source="OMIM:221400"} xref: SCTID:733071009 {source="MONDO:equivalentTo"} xref: UMLS:C1857338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3217", source="OMIM:221400"} @@ -169611,10 +169579,10 @@ synonym: "congenital profound sensorineural deafness and oligodontia" RELATED [G synonym: "deafness oligodontia syndrome" RELATED [GARD:0001698] synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740] xref: GARD:0001698 {source="MONDO:equivalentTo"} -xref: MESH:C538049 {source="MONDO:equivalentTo", source="ORDO:3230/e", source="Orphanet:3230"} -xref: OMIM:221740 {source="MONDO:equivalentTo", source="ORDO:3230/e", source="Orphanet:3230"} +xref: MESH:C538049 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} +xref: OMIM:221740 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} xref: Orphanet:3230 {source="MONDO:equivalentTo", source="OMIM:221740"} -xref: UMLS:C1857333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221740", source="ORDO:3230/e", source="Orphanet:3230"} +xref: UMLS:C1857333 {source="NCBI:mim2gene_medline", source="Orphanet:3230/e", source="MONDO:equivalentTo", source="OMIM:221740", source="Orphanet:3230"} is_a: MONDO:0019589 {source="Orphanet:3230"} ! syndromic genetic hearing loss is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3230", source="Orphanet:3230/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -169630,7 +169598,7 @@ xref: MESH:C565637 {source="MONDO:equivalentTo"} xref: OMIM:221745 {source="MONDO:equivalentTo"} xref: Orphanet:90641 {source="MONDO:subClassOf", source="OMIM:221745"} xref: UMLS:C1857332 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:221745"} -is_a: MONDO:0010779 {source="ORDO:90641/btnt"} ! mitochondrial non-syndromic sensorineural hearing loss +is_a: MONDO:0010779 {source="Orphanet:90641/btnt"} ! mitochondrial non-syndromic sensorineural hearing loss relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 property_value: confidence "3.2299999999999995" xsd:double @@ -169653,7 +169621,7 @@ synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" REL synonym: "Winkelmann-Bethge-Pfeiffer syndrome" RELATED [GARD:0010603] xref: GARD:0010603 {source="MONDO:equivalentTo"} xref: MESH:C536710 {source="MONDO:equivalentTo"} -xref: OMIM:221750 {source="MONDO:equivalentTo", source="Orphanet:231720", source="ORDO:231720/e", source="GARD:0010603"} +xref: OMIM:221750 {source="MONDO:equivalentTo", source="Orphanet:231720", source="GARD:0010603", source="Orphanet:231720/e"} xref: Orphanet:231720 {source="MONDO:equivalentTo", source="OMIM:221750"} xref: Orphanet:3228 {source="GARD:0010603"} xref: UMLS:C1857330 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0010603"} @@ -169683,14 +169651,14 @@ synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; br xref: DOID:0090112 {source="MONDO:equivalentTo"} xref: GARD:0009921 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:9921 {source="DOID:0090112"} -xref: ICD10CM:E75.2 {source="Orphanet:2770", source="DOID:0090112", source="ORDO:2770/attributed", source="ORDO:2770/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:2770", source="Orphanet:2770/attributed", source="Orphanet:2770/ntbt", source="DOID:0090112"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536329 {source="Orphanet:2770", source="DOID:0090112", source="ORDO:2770/e"} -xref: OMIM:221770 {source="Orphanet:2770", source="DOID:0090112", source="MONDO:superClassOf", source="ORDO:2770/e"} +xref: MESH:C536329 {source="Orphanet:2770", source="DOID:0090112", source="Orphanet:2770/e"} +xref: OMIM:221770 {source="Orphanet:2770", source="DOID:0090112", source="MONDO:superClassOf", source="Orphanet:2770/e"} xref: OMIMPS:221770 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770"} xref: SCTID:702347001 {source="MONDO:equivalentTo"} -xref: UMLS:C1857316 {source="Orphanet:2770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770", source="ORDO:2770/e"} +xref: UMLS:C1857316 {source="Orphanet:2770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770", source="Orphanet:2770/e"} is_a: MONDO:0006025 {source="DOID:0090112", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0019046 {source="Orphanet:2770"} ! leukodystrophy is_a: MONDO:0019707 {source="Orphanet:2770"} ! primary osteolysis @@ -169706,12 +169674,12 @@ subset: gard_rare {source="GARD:0001813"} subset: ordo_disease {source="Orphanet:1659"} synonym: "Dermatoleukodystrophy" EXACT [OMIM:221790] xref: GARD:0001813 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="ORDO:1659/attributed", source="ORDO:1659/ntbt", source="Orphanet:1659"} -xref: MESH:C538220 {source="MONDO:equivalentTo", source="Orphanet:1659", source="ORDO:1659/e"} -xref: OMIM:221790 {source="MONDO:equivalentTo", source="Orphanet:1659", source="ORDO:1659/e"} +xref: ICD10CM:E75.2 {source="Orphanet:1659", source="Orphanet:1659/attributed", source="Orphanet:1659/ntbt"} +xref: MESH:C538220 {source="Orphanet:1659/e", source="MONDO:equivalentTo", source="Orphanet:1659"} +xref: OMIM:221790 {source="Orphanet:1659/e", source="MONDO:equivalentTo", source="Orphanet:1659"} xref: Orphanet:1659 {source="OMIM:221790", source="MONDO:equivalentTo"} xref: SCTID:733044009 {source="MONDO:equivalentTo"} -xref: UMLS:C1857314 {source="NCBI:mim2gene_medline", source="OMIM:221790", source="MONDO:equivalentTo", source="Orphanet:1659", source="ORDO:1659/e"} +xref: UMLS:C1857314 {source="Orphanet:1659/e", source="NCBI:mim2gene_medline", source="OMIM:221790", source="MONDO:equivalentTo", source="Orphanet:1659"} is_a: MONDO:0019046 {source="Orphanet:1659"} ! leukodystrophy is_a: MONDO:0019292 {source="Orphanet:1659", source="Orphanet:1659/inferred"} ! dermis elastic tissue disorder property_value: confidence "4.277777777777778" xsd:double @@ -169731,7 +169699,7 @@ synonym: "François syndrome" EXACT [Orphanet:79149] xref: GARD:0001815 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:379.99 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535375 {source="MONDO:equivalentTo"} -xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="ORDO:79149/e"} +xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="Orphanet:79149/e"} xref: Orphanet:79149 {source="MONDO:equivalentTo", source="OMIM:221800"} xref: SCTID:254150007 {source="MONDO:equivalentTo"} xref: UMLS:C0432288 {source="Orphanet:79149", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:221800"} @@ -169751,11 +169719,11 @@ synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814] synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810] synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810] xref: GARD:0001814 {source="MONDO:equivalentTo"} -xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="ORDO:1657/e"} -xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="ORDO:1657/e"} +xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} +xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: Orphanet:1657 {source="MONDO:equivalentTo", source="OMIM:221810"} xref: SCTID:721090002 {source="MONDO:equivalentTo"} -xref: UMLS:C1857301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1657", source="ORDO:1657/e", source="OMIM:221810"} +xref: UMLS:C1857301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1657", source="OMIM:221810", source="Orphanet:1657/e"} is_a: MONDO:0019287 {source="MESH:C535373", source="Orphanet:1657", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "33.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type xsd:anyURI {source="GARD:0001814"} @@ -169791,11 +169759,11 @@ synonym: "POLD" EXACT ABBREVIATION [Orphanet:313808] synonym: "subcortical gliosis of Neumann" EXACT [OMIM:221820, Orphanet:313808] xref: DOID:0080523 {source="MONDO:equivalentTo"} xref: GARD:0010981 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:313808", source="ORDO:313808/attributed", source="ORDO:313808/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:313808/attributed", source="Orphanet:313808/ntbt", source="Orphanet:313808"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C580150 {source="MONDO:equivalentTo"} xref: NCIT:C153289 {source="MONDO:equivalentTo"} -xref: OMIM:221820 {source="MONDO:equivalentTo", source="Orphanet:313808", source="ORDO:313808/e"} +xref: OMIM:221820 {source="Orphanet:313808/e", source="MONDO:equivalentTo", source="Orphanet:313808"} xref: Orphanet:313808 {source="MONDO:equivalentTo", source="OMIM:221820"} xref: SCTID:702427005 {source="MONDO:equivalentTo"} xref: UMLS:C1857300 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:221820"} @@ -169855,7 +169823,7 @@ synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracere synonym: "Schofer Beetz Bohl syndrome" RELATED [GARD:0000259] synonym: "Schofer-Beetz-Bohl syndrome" EXACT [Orphanet:3145] xref: GARD:0000259 {source="MONDO:equivalentTo"} -xref: OMIM:221995 {source="Orphanet:3145", source="ORDO:3145/e", source="GARD:0000259", source="MONDO:equivalentTo"} +xref: OMIM:221995 {source="Orphanet:3145", source="GARD:0000259", source="MONDO:equivalentTo", source="Orphanet:3145/e"} xref: Orphanet:3145 {source="GARD:0000259", source="MONDO:equivalentTo", source="OMIM:221995"} xref: SCTID:716200002 {source="MONDO:equivalentTo"} xref: UMLS:C1857297 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:221995"} @@ -169953,13 +169921,13 @@ synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXA xref: DOID:0090144 {source="MONDO:equivalentTo"} xref: GARD:0001899 {source="MONDO:equivalentTo"} xref: GARD:1899 {source="DOID:0090144"} -xref: ICD10CM:Q87.8 {source="Orphanet:2143", source="DOID:0090144", source="ORDO:2143/attributed", source="ORDO:2143/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2143", source="DOID:0090144", source="Orphanet:2143/attributed", source="Orphanet:2143/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536390 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="ORDO:2143/e"} -xref: OMIM:222448 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="ORDO:2143/e"} +xref: MESH:C536390 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"} +xref: OMIM:222448 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"} xref: Orphanet:2143 {source="DOID:0090144", source="MONDO:equivalentTo", source="OMIM:222448"} xref: SCTID:702418009 {source="MONDO:equivalentTo"} -xref: UMLS:C1857277 {source="Orphanet:2143", source="DOID:0090144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222448", source="ORDO:2143/e"} +xref: UMLS:C1857277 {source="Orphanet:2143", source="DOID:0090144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2143/e", source="OMIM:222448"} is_a: MONDO:0006025 {source="DOID:0090144", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015160 {source="Orphanet:2143", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015216 {source="Orphanet:2143"} ! syndromic diaphragmatic or abdominal wall malformation @@ -169988,8 +169956,8 @@ synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064] synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1, OMIM:222470] xref: DOID:0111414 {source="MONDO:equivalentTo"} xref: GARD:0005258 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: OMIM:222470 {source="MONDO:superClassOf", source="ORDO:84064/e", source="Orphanet:84064"} -xref: OMIM:614602 {source="ORDO:84064/btnt", source="MONDO:superClassOf", source="Orphanet:84064"} +xref: OMIM:222470 {source="Orphanet:84064/e", source="MONDO:superClassOf", source="Orphanet:84064"} +xref: OMIM:614602 {source="Orphanet:84064/btnt", source="MONDO:superClassOf", source="Orphanet:84064"} xref: OMIMPS:222470 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="OMIM:222470", source="MONDO:equivalentTo"} xref: SCTID:703406006 {source="MONDO:equivalentTo"} @@ -170020,14 +169988,14 @@ synonym: "split cord malformation type 1" EXACT [Orphanet:1671] synonym: "split spinal cord malformation" RELATED [GARD:0001851] synonym: "SSCM" RELATED ABBREVIATION [GARD:0001851] xref: GARD:0001851 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q06.2 {source="Orphanet:1671", source="ORDO:1671/e", source="ORDO:1671/specific", source="MONDO:equivalentTo"} +xref: ICD10CM:Q06.2 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="Orphanet:1671/specific"} xref: ICD9:742.51 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10012750 {source="Orphanet:1671", source="ORDO:1671/e"} +xref: MedDRA:10012750 {source="Orphanet:1671", source="Orphanet:1671/e"} xref: NCIT:C98913 {source="MONDO:equivalentTo"} -xref: OMIM:222500 {source="Orphanet:1671", source="ORDO:1671/e", source="MONDO:equivalentTo"} +xref: OMIM:222500 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e"} xref: Orphanet:1671 {source="MONDO:equivalentTo", source="OMIM:222500"} xref: SCTID:49351009 {source="MONDO:equivalentTo"} -xref: UMLS:C0011999 {source="Orphanet:1671", source="ORDO:1671/e", source="NCIT:C98913", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222500"} +xref: UMLS:C0011999 {source="Orphanet:1671", source="NCIT:C98913", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="OMIM:222500"} is_a: MONDO:0002320 {source="NCIT:C98913", source="indirect"} ! congenital nervous system disorder is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: confidence "8.375" xsd:double @@ -170044,13 +170012,13 @@ synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [OMI synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222600] xref: DOID:14687 {source="MONDO:equivalentTo"} xref: GARD:0006275 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.5 {source="ORDO:628/specific", source="ORDO:628/e", source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687"} +xref: ICD10CM:Q77.5 {source="MONDO:equivalentTo", source="Orphanet:628/specific", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536170 {source="MONDO:equivalentTo", source="DOID:14687"} -xref: OMIM:222600 {source="ORDO:628/e", source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687"} +xref: OMIM:222600 {source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} xref: Orphanet:628 {source="MONDO:equivalentTo", source="OMIM:222600"} xref: SCTID:58561002 {source="MONDO:equivalentTo", source="DOID:14687"} -xref: UMLS:C0220726 {source="ORDO:628/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:628", source="OMIM:222600", source="DOID:14687"} +xref: UMLS:C0220726 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:628", source="OMIM:222600", source="DOID:14687", source="Orphanet:628/e"} xref: UMLS:C1857255 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:222600"} is_a: MONDO:0005516 {source="DOID:14687", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019688 {source="Orphanet:628"} ! sulfation-related bone disorder @@ -170069,9 +170037,9 @@ synonym: "dibasic amino aciduria I" RELATED [OMIM:222690] synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1, OMIM:222690] synonym: "dibasic aminoaciduria 1" RELATED [GARD:0001854] xref: GARD:0001854 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="Orphanet:1032", source="ORDO:1032/attributed", source="ORDO:1032/ntbt"} +xref: ICD10CM:E72.0 {source="Orphanet:1032", source="Orphanet:1032/attributed", source="Orphanet:1032/ntbt"} xref: MESH:C567132 {source="MONDO:equivalentTo"} -xref: OMIM:222690 {source="Orphanet:1032", source="MONDO:equivalentTo", source="ORDO:1032/e"} +xref: OMIM:222690 {source="Orphanet:1032", source="MONDO:equivalentTo", source="Orphanet:1032/e"} xref: Orphanet:1032 {source="OMIM:222690", source="MONDO:equivalentObsolete"} xref: UMLS:C2673736 {source="Orphanet:1032", source="OMIM:222690", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019216 {source="Orphanet:1032"} ! inborn disorder of amino acid absorption and transport @@ -170096,19 +170064,19 @@ synonym: "lysinuric protein intolerance" EXACT CLINGEN_PREFERRED [MONDO:Lexical, xref: DOID:0060439 {source="MONDO:equivalentTo"} xref: GARD:0001853 {source="MONDO:equivalentTo"} xref: GARD:0003335 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="ORDO:470/attributed", source="ORDO:470/ntbt", source="Orphanet:470"} +xref: ICD10CM:E72.0 {source="Orphanet:470", source="Orphanet:470/attributed", source="Orphanet:470/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058300 {source="ORDO:470/e", source="Orphanet:470"} +xref: MedDRA:10058300 {source="Orphanet:470", source="Orphanet:470/e"} xref: MESH:C562687 {source="MONDO:equivalentTo", source="DOID:0060439"} xref: NCIT:C121563 {source="MONDO:equivalentTo", source="DOID:0060439"} -xref: OMIM:222700 {source="MONDO:equivalentTo", source="ORDO:470/e", source="Orphanet:470", source="DOID:0060439"} +xref: OMIM:222700 {source="MONDO:equivalentTo", source="Orphanet:470", source="DOID:0060439", source="Orphanet:470/e"} xref: Orphanet:470 {source="MONDO:equivalentTo", source="DOID:0060439", source="OMIM:222700"} xref: SCTID:13138006 {source="DOID:0060439"} xref: SCTID:236476008 {source="DOID:0060439"} xref: SCTID:237943005 {source="DOID:0060439"} xref: SCTID:303852004 {source="MONDO:equivalentTo", source="DOID:0060439"} xref: SCTID:367410007 {source="DOID:0060439"} -xref: UMLS:C0268647 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:470/e", source="Orphanet:470", source="DOID:0060439", source="NCIT:C121563", source="OMIM:222700"} +xref: UMLS:C0268647 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:470", source="DOID:0060439", source="NCIT:C121563", source="OMIM:222700", source="Orphanet:470/e"} is_a: MONDO:0004736 {source="DOID:0060439", source="MESH:C562687"} ! inherited amino acid metabolic disorder is_a: MONDO:0019216 {source="Orphanet:470", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11065 {source="mim2gene_medgen"} ! SLC7A7 @@ -170129,12 +170097,12 @@ synonym: "glutamate-aspartate Transport defect" RELATED [OMIM:222730] synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:2195] xref: DOID:0060650 {source="MONDO:equivalentTo"} xref: GARD:0001855 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="DOID:0060650", source="Orphanet:2195", source="ORDO:2195/attributed", source="ORDO:2195/ntbt"} -xref: MESH:C536171 {source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195", source="ORDO:2195/e"} -xref: OMIM:222730 {source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195", source="ORDO:2195/e"} +xref: ICD10CM:E72.0 {source="DOID:0060650", source="Orphanet:2195/attributed", source="Orphanet:2195/ntbt", source="Orphanet:2195"} +xref: MESH:C536171 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} +xref: OMIM:222730 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} xref: Orphanet:2195 {source="DOID:0060650", source="MONDO:equivalentTo", source="OMIM:222730"} xref: SCTID:716747007 {source="MONDO:equivalentTo"} -xref: UMLS:C1857253 {source="DOID:0060650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222730", source="Orphanet:2195", source="ORDO:2195/e"} +xref: UMLS:C1857253 {source="Orphanet:2195/e", source="DOID:0060650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222730", source="Orphanet:2195"} is_a: MONDO:0004736 {source="DOID:0060650"} ! inherited amino acid metabolic disorder is_a: MONDO:0019216 {source="Orphanet:2195", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport property_value: confidence "36.6984126984127" xsd:double @@ -170152,9 +170120,9 @@ synonym: "Dpys deficiency" RELATED [OMIM:222748] synonym: "DPYSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222748] xref: DOID:0111629 {source="MONDO:equivalentTo"} xref: GARD:0012347 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E79.8 {source="ORDO:38874/attributed", source="ORDO:38874/ntbt", source="Orphanet:38874"} +xref: ICD10CM:E79.8 {source="Orphanet:38874/attributed", source="Orphanet:38874/ntbt", source="Orphanet:38874"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:222748 {source="MONDO:equivalentTo", source="ORDO:38874/e", source="Orphanet:38874"} +xref: OMIM:222748 {source="Orphanet:38874/e", source="MONDO:equivalentTo", source="Orphanet:38874"} xref: Orphanet:38874 {source="OMIM:222748", source="MONDO:equivalentTo"} xref: SCTID:238014002 {source="MONDO:equivalentTo"} xref: UMLS:C0342803 {source="OMIM:222748", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:38874"} @@ -170185,12 +170153,12 @@ synonym: "rhizomelic chondrodysplasia punctata, type 2" EXACT [MONDO:Lexical, OM synonym: "type 2 rhizomelic chondrodysplasia punctata" EXACT [GARD:0009429] xref: DOID:0110852 {source="MONDO:equivalentTo"} xref: GARD:0009429 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="DOID:0110852", source="ORDO:309796/attributed", source="ORDO:309796/ntbt", source="Orphanet:309796"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="DOID:0110852", source="Orphanet:309796/attributed", source="Orphanet:309796/ntbt", source="Orphanet:309796"} xref: MESH:C537607 {source="MONDO:equivalentTo"} -xref: OMIM:222765 {source="DOID:0110852", source="MONDO:equivalentTo", source="ORDO:309796/e", source="Orphanet:309796"} +xref: OMIM:222765 {source="DOID:0110852", source="Orphanet:309796/e", source="MONDO:equivalentTo", source="Orphanet:309796"} xref: Orphanet:177 {source="MONDO:subClassOf", source="OMIM:222765"} xref: Orphanet:309796 {source="DOID:0110852", source="MONDO:equivalentTo", source="OMIM:222765"} -xref: UMLS:C1857242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309796/e", source="OMIM:222765", source="Orphanet:309796"} +xref: UMLS:C1857242 {source="Orphanet:309796/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222765", source="Orphanet:309796"} is_a: MONDO:0015776 {source="DC-OMIM:222765", source="DOID:0110852", source="MESH:C537607", source="MONDO:Redundant", source="OMIM:222765", source="Orphanet:309796"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0100273 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! glyceronephosphate O-acyltransferase deficiency intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata @@ -170215,9 +170183,9 @@ synonym: "DPGM deficiency" RELATED [OMIM:222800] synonym: "erythrocytosis, familial, 8" EXACT [OMIM:222800, OMIM:genemap2] xref: DOID:0111630 {source="MONDO:equivalentTo"} xref: GARD:0001874 {source="MONDO:equivalentTo"} -xref: ICD10CM:D55.2 {source="Orphanet:714", source="ORDO:714/attributed", source="ORDO:714/ntbt"} +xref: ICD10CM:D55.2 {source="Orphanet:714", source="Orphanet:714/attributed", source="Orphanet:714/ntbt"} xref: NCIT:C131638 {source="MONDO:equivalentTo"} -xref: OMIM:222800 {source="ORDO:714/e", source="MONDO:equivalentTo", source="Orphanet:714"} +xref: OMIM:222800 {source="MONDO:equivalentTo", source="Orphanet:714", source="Orphanet:714/e"} xref: Orphanet:714 {source="MONDO:equivalentTo", source="OMIM:222800"} xref: UMLS:C1291620 {source="NCBI:mim2gene_medline", source="NCIT:C131638", source="MONDO:equivalentTo"} xref: UMLS:C1412816 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:222800"} @@ -170260,15 +170228,15 @@ synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900] xref: DOID:0111633 {source="MONDO:equivalentTo"} xref: GARD:0006183 {source="MONDO:equivalentTo"} xref: GARD:0007710 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.3 {source="ORDO:35122/ntbt", source="Orphanet:35122", source="ORDO:35122/inclusion"} +xref: ICD10CM:E74.3 {source="Orphanet:35122/inclusion", source="Orphanet:35122", source="Orphanet:35122/ntbt"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s", source="linkedlifedata"} -xref: MedDRA:10066387 {source="ORDO:35122/e", source="Orphanet:35122"} -xref: MESH:C538139 {source="MONDO:equivalentTo", source="ORDO:35122/e", source="Orphanet:35122"} +xref: MedDRA:10066387 {source="Orphanet:35122/e", source="Orphanet:35122"} +xref: MESH:C538139 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"} xref: NCIT:C128190 {source="MONDO:equivalentTo"} -xref: OMIM:222900 {source="MONDO:equivalentTo", source="ORDO:35122/e", source="Orphanet:35122"} +xref: OMIM:222900 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"} xref: Orphanet:35122 {source="MONDO:equivalentTo", source="OMIM:222900"} xref: SCTID:78373000 {source="MONDO:equivalentTo"} -xref: UMLS:C1283620 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="GARD:0006183", source="MONDO:equivalentTo", source="NCIT:C128190", source="ORDO:35122/e", source="Orphanet:35122", source="OMIM:222900"} +xref: UMLS:C1283620 {source="Orphanet:35122/e", source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="GARD:0006183", source="MONDO:equivalentTo", source="NCIT:C128190", source="Orphanet:35122", source="OMIM:222900"} is_a: MONDO:0004905 {source="linkedlifedata"} ! intestinal disaccharidase deficiency is_a: MONDO:0017706 {source="Orphanet:35122"} ! disorder of carbohydrate absorption and transport is_a: MONDO:0019052 {source="MESH:C538139/inferred", source="MONDO:Redundant", source="NCIT:C128190", source="Orphanet:35122/inferred"} ! inborn errors of metabolism @@ -170294,13 +170262,13 @@ synonym: "disaccharide intolerance 2" RELATED [OMIM:223000] synonym: "lactase deficiency, congenital" RELATED [OMIM:223000] xref: DOID:0111646 {source="MONDO:equivalentTo"} xref: GARD:0012311 {source="MONDO:equivalentTo"} -xref: ICD10CM:E73.0 {source="MONDO:equivalentTo", source="ORDO:53690/e", source="Orphanet:53690", source="ORDO:53690/specific"} +xref: ICD10CM:E73.0 {source="Orphanet:53690/e", source="Orphanet:53690/specific", source="MONDO:equivalentTo", source="Orphanet:53690"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562600 {source="MONDO:equivalentTo"} -xref: OMIM:223000 {source="MONDO:equivalentTo", source="ORDO:53690/e", source="Orphanet:53690"} +xref: OMIM:223000 {source="Orphanet:53690/e", source="MONDO:equivalentTo", source="Orphanet:53690"} xref: Orphanet:53690 {source="OMIM:223000", source="MONDO:equivalentTo"} xref: SCTID:5388008 {source="MONDO:equivalentTo"} -xref: UMLS:C0268179 {source="NCBI:mim2gene_medline", source="OMIM:223000", source="MONDO:notFoundInDiseaseSubset", source="ORDO:53690/e", source="Orphanet:53690"} +xref: UMLS:C0268179 {source="Orphanet:53690/e", source="NCBI:mim2gene_medline", source="OMIM:223000", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:53690"} is_a: MONDO:0017706 {source="Orphanet:53690"} ! disorder of carbohydrate absorption and transport intersection_of: MONDO:0017706 ! disorder of carbohydrate absorption and transport intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6530 ! LCT @@ -170361,7 +170329,7 @@ synonym: "marfanoid syndrome, De Silva type" EXACT [Orphanet:2464] synonym: "Marphanoid syndrome type De Silva" RELATED [GARD:0003401] xref: GARD:0003401 {source="MONDO:equivalentTo"} xref: MESH:C565619 {source="MONDO:equivalentTo"} -xref: OMIM:223330 {source="ORDO:2464/e", source="Orphanet:2464", source="MONDO:equivalentTo"} +xref: OMIM:223330 {source="Orphanet:2464", source="MONDO:equivalentTo", source="Orphanet:2464/e"} xref: Orphanet:2464 {source="OMIM:223330", source="MONDO:equivalentTo"} xref: UMLS:C1857227 {source="Orphanet:2464", source="NCBI:mim2gene_medline", source="OMIM:223330", source="MONDO:equivalentTo"} is_a: MONDO:0015212 {source="Orphanet:2464"} ! syndromic intestinal malformation @@ -170379,9 +170347,9 @@ synonym: "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syn synonym: "Von Voss Cherstvoy syndrome" RELATED [GARD:0001894] synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340] xref: GARD:0001894 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3439/attributed", source="ORDO:3439/ntbt", source="Orphanet:3439"} +xref: ICD10CM:Q87.8 {source="Orphanet:3439", source="Orphanet:3439/attributed", source="Orphanet:3439/ntbt"} xref: MESH:C565618 {source="MONDO:equivalentTo"} -xref: OMIM:223340 {source="MONDO:equivalentTo", source="Orphanet:3439", source="ORDO:3439/e"} +xref: OMIM:223340 {source="MONDO:equivalentTo", source="Orphanet:3439", source="Orphanet:3439/e"} xref: Orphanet:3439 {source="OMIM:223340", source="MONDO:equivalentTo"} xref: SCTID:719021005 {source="MONDO:equivalentTo"} xref: UMLS:C1857226 {source="OMIM:223340", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3439"} @@ -170416,13 +170384,13 @@ synonym: "orthostatic hypotension 1, due to DBH deficiency" EXACT [OMIM:223360, xref: DOID:0090145 {source="MONDO:equivalentTo"} xref: GARD:0001903 {source="MONDO:equivalentTo"} xref: GARD:1903 {source="DOID:0090145"} -xref: ICD10CM:G90.8 {source="ORDO:230/attributed", source="ORDO:230/ntbt", source="Orphanet:230"} +xref: ICD10CM:G90.8 {source="Orphanet:230", source="Orphanet:230/attributed", source="Orphanet:230/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535600 {source="MONDO:equivalentTo", source="DOID:0090145", source="ORDO:230/e", source="Orphanet:230"} -xref: OMIM:223360 {source="MONDO:equivalentTo", source="DOID:0090145", source="ORDO:230/e", source="Orphanet:230"} +xref: MESH:C535600 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} +xref: OMIM:223360 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} xref: Orphanet:230 {source="OMIM:223360", source="MONDO:equivalentTo", source="DOID:0090145"} xref: SCTID:237923004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342687 {source="OMIM:223360", source="MONDO:equivalentTo", source="DOID:0090145", source="ORDO:230/e", source="Orphanet:230"} +xref: UMLS:C0342687 {source="OMIM:223360", source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"} xref: UMLS:C1857209 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015914 {source="Orphanet:230"} ! primary orthostatic hypotension is_a: MONDO:0017759 {source="Orphanet:230", source="linkedlifedata"} ! disorder of catecholamine synthesis @@ -170446,15 +170414,15 @@ synonym: "intrauterine growth retardation, short stature, microcephaly, mild int synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci" RELATED DEPRECATED [GARD:0006290] xref: DOID:14796 {source="MONDO:equivalentTo"} xref: GARD:0006290 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:235", source="ORDO:235/inclusion", source="DOID:14796", source="ORDO:235/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:235", source="Orphanet:235/ntbt", source="Orphanet:235/inclusion", source="DOID:14796"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059589 {source="Orphanet:235", source="ORDO:235/e", source="DOID:14796"} -xref: MESH:C535718 {source="Orphanet:235", source="MONDO:equivalentTo", source="ORDO:235/e", source="DOID:14796"} +xref: MedDRA:10059589 {source="Orphanet:235", source="Orphanet:235/e", source="DOID:14796"} +xref: MESH:C535718 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"} xref: NCIT:C125591 {source="MONDO:equivalentTo"} -xref: OMIM:223370 {source="Orphanet:235", source="MONDO:equivalentTo", source="ORDO:235/e", source="DOID:14796"} +xref: OMIM:223370 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"} xref: Orphanet:235 {source="OMIM:223370", source="MONDO:equivalentTo"} xref: SCTID:2593002 {source="MONDO:equivalentTo", source="DOID:14796"} -xref: UMLS:C0175691 {source="NCIT:C125591", source="OMIM:223370", source="Orphanet:235", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:235/e", source="DOID:14796"} +xref: UMLS:C0175691 {source="NCIT:C125591", source="OMIM:223370", source="Orphanet:235", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:235", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:14796", source="MONDO:Redundant", source="NCIT:C125591", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:235"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -170493,15 +170461,15 @@ synonym: "duodenal stenosis" RELATED [GARD:0000054] xref: DOID:0080216 {source="MONDO:equivalentTo"} xref: GARD:0000054 {source="MONDO:equivalentTo"} xref: HP:0002247 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q41.0 {source="ORDO:1203/ntbt", source="Orphanet:1203", source="ORDO:1203/inclusion"} +xref: ICD10CM:Q41.0 {source="Orphanet:1203/inclusion", source="Orphanet:1203", source="Orphanet:1203/ntbt"} xref: ICD9:751.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10013812 {source="ORDO:1203/e", source="Orphanet:1203"} -xref: MESH:C535720 {source="ORDO:1203/e", source="MONDO:equivalentTo", source="Orphanet:1203"} +xref: MedDRA:10013812 {source="Orphanet:1203", source="Orphanet:1203/e"} +xref: MESH:C535720 {source="MONDO:equivalentTo", source="Orphanet:1203", source="Orphanet:1203/e"} xref: NCIT:C101025 {source="MONDO:equivalentTo"} -xref: OMIM:223400 {source="GARD:0000054", source="ORDO:1203/e", source="MONDO:equivalentTo", source="Orphanet:1203", source="DOID:0080216"} +xref: OMIM:223400 {source="GARD:0000054", source="MONDO:equivalentTo", source="Orphanet:1203", source="DOID:0080216", source="Orphanet:1203/e"} xref: Orphanet:1203 {source="GARD:0000054", source="MONDO:equivalentTo", source="OMIM:223400"} xref: SCTID:51118003 {source="MONDO:equivalentTo"} -xref: UMLS:C0266174 {source="ORDO:1203/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1203", source="NCIT:C101025", source="OMIM:223400"} +xref: UMLS:C0266174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1203", source="NCIT:C101025", source="OMIM:223400", source="Orphanet:1203/e"} is_a: MONDO:0001045 {source="DOID:0080216", source="NCIT:C101025/inferred"} ! intestinal atresia is_a: MONDO:0015209 {source="Orphanet:1203"} ! non-syndromic gastroduodenal malformation is_a: MONDO:0015211 {source="Orphanet:1203"} ! non-syndromic intestinal malformation @@ -170559,14 +170527,14 @@ synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [NCIT:C124844] synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167] xref: DOID:0111167 {source="MONDO:equivalentTo"} xref: GARD:0006295 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.7 {source="Orphanet:239", source="ORDO:239/attributed", source="ORDO:239/ntbt"} -xref: MESH:C535726 {source="ORDO:239/e", source="Orphanet:239"} +xref: ICD10CM:Q77.7 {source="Orphanet:239/attributed", source="Orphanet:239/ntbt", source="Orphanet:239"} +xref: MESH:C535726 {source="Orphanet:239", source="Orphanet:239/e"} xref: NCIT:C124844 {source="MONDO:equivalentTo"} -xref: OMIM:223800 {source="ORDO:239/e", source="Orphanet:239", source="MONDO:equivalentTo", source="DOID:0111167"} -xref: OMIM:304950 {source="Orphanet:239", source="MONDO:superClassOf", source="ORDO:239/btnt"} +xref: OMIM:223800 {source="Orphanet:239", source="MONDO:equivalentTo", source="Orphanet:239/e", source="DOID:0111167"} +xref: OMIM:304950 {source="Orphanet:239/btnt", source="Orphanet:239", source="MONDO:superClassOf"} xref: Orphanet:239 {source="MONDO:equivalentTo", source="OMIM:223800"} xref: SCTID:82699004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265286 {source="ORDO:239/e", source="NCBI:mim2gene_medline", source="Orphanet:239", source="MONDO:equivalentTo", source="NCIT:C124844", source="OMIM:223800"} +xref: UMLS:C0265286 {source="NCBI:mim2gene_medline", source="Orphanet:239", source="MONDO:equivalentTo", source="Orphanet:239/e", source="NCIT:C124844", source="OMIM:223800"} is_a: MONDO:0002254 {source="NCIT:C124844"} ! syndromic disease is_a: MONDO:0016761 {source="DOID:0111167", source="Orphanet:239", source="linkedlifedata"} ! spondyloepiphyseal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21317 {source="mim2gene_medgen"} ! DYM @@ -170594,15 +170562,15 @@ synonym: "Riley Day syndrome" RELATED [GARD:0007581] synonym: "Riley-Day syndrome" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764] xref: DOID:11589 {source="MONDO:equivalentTo"} xref: GARD:0007581 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G90.1 {source="DOID:11589", source="ORDO:1764/specific", source="ORDO:1764/e", source="Orphanet:1764"} -xref: MedDRA:10039179 {source="ORDO:1764/e", source="Orphanet:1764"} -xref: MESH:D004402 {source="DOID:11589", source="ORDO:1764/e", source="MONDO:equivalentTo", source="Orphanet:1764"} +xref: ICD10CM:G90.1 {source="DOID:11589", source="Orphanet:1764", source="Orphanet:1764/specific", source="Orphanet:1764/e"} +xref: MedDRA:10039179 {source="Orphanet:1764", source="Orphanet:1764/e"} +xref: MESH:D004402 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"} xref: NCIT:C84706 {source="DOID:11589", source="MONDO:equivalentTo"} -xref: OMIM:223900 {source="DOID:11589", source="ORDO:1764/e", source="MONDO:equivalentTo", source="Orphanet:1764"} +xref: OMIM:223900 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"} xref: Orphanet:1764 {source="MONDO:equivalentTo", source="OMIM:223900"} xref: SCTID:204087006 {source="DOID:11589"} xref: SCTID:29159009 {source="DOID:11589", source="MONDO:equivalentTo"} -xref: UMLS:C0013364 {source="DOID:11589", source="ORDO:1764/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84706", source="Orphanet:1764", source="OMIM:223900"} +xref: UMLS:C0013364 {source="DOID:11589", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84706", source="Orphanet:1764", source="OMIM:223900", source="Orphanet:1764/e"} is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0015366 {source="Orphanet:1764"} ! autosomal recessive hereditary sensory and autonomic neuropathy is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease @@ -170647,18 +170615,18 @@ synonym: "non-progressive cerebellar ataxia-intellectual disability syndrome" EX synonym: "VLDLRCH" RELATED ABBREVIATION [GARD:0001998] xref: DOID:0050997 {source="MONDO:equivalentTo"} xref: GARD:0001998 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:1766/attributed", source="ORDO:1766/ntbt", source="Orphanet:1766"} -xref: MedDRA:10013140 {source="ORDO:1766/e", source="Orphanet:1766"} -xref: MESH:C535731 {source="MONDO:equivalentTo", source="ORDO:1766/e", source="Orphanet:1766"} +xref: ICD10CM:G11.8 {source="Orphanet:1766", source="Orphanet:1766/attributed", source="Orphanet:1766/ntbt"} +xref: MedDRA:10013140 {source="Orphanet:1766", source="Orphanet:1766/e"} +xref: MESH:C535731 {source="MONDO:equivalentTo", source="Orphanet:1766", source="Orphanet:1766/e"} xref: NCIT:C114781 {source="MONDO:equivalentTo"} -xref: OMIM:224050 {source="DOID:0050997", source="ORDO:1766/e", source="MONDO:superClassOf", source="Orphanet:1766"} -xref: OMIM:610185 {source="ORDO:1766/btnt", source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766"} -xref: OMIM:613227 {source="ORDO:1766/btnt", source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766"} -xref: OMIM:615268 {source="ORDO:1766/btnt", source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766"} +xref: OMIM:224050 {source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766", source="Orphanet:1766/e"} +xref: OMIM:610185 {source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766", source="Orphanet:1766/btnt"} +xref: OMIM:613227 {source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766", source="Orphanet:1766/btnt"} +xref: OMIM:615268 {source="DOID:0050997", source="MONDO:superClassOf", source="Orphanet:1766", source="Orphanet:1766/btnt"} xref: OMIMPS:224050 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:equivalentTo", source="OMIM:224050"} xref: SCTID:230782004 {source="MONDO:equivalentTo"} -xref: UMLS:C0394006 {source="ORDO:1766/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1766", source="OMIM:224050"} +xref: UMLS:C0394006 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1766", source="OMIM:224050", source="Orphanet:1766/e"} xref: UMLS:C0403559 {source="NCIT:C114781", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="NCIT:C114781", source="indirect"} ! syndromic disease is_a: MONDO:0020043 {source="Orphanet:1766"} ! autosomal recessive congenital cerebellar ataxia @@ -170689,12 +170657,12 @@ synonym: "hereditary erythroblastic multinuclearity with Positive acidified-seru synonym: "SEC23B-CDG" EXACT [Orphanet:98873] xref: DOID:0111401 {source="MONDO:equivalentTo"} xref: GARD:0002001 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:98873", source="ORDO:98873/attributed", source="ORDO:98873/ntbt"} +xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:98873", source="Orphanet:98873/attributed", source="Orphanet:98873/ntbt"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:224100 {source="Orphanet:98873", source="MONDO:equivalentTo", source="ORDO:98873/e"} +xref: OMIM:224100 {source="Orphanet:98873", source="MONDO:equivalentTo", source="Orphanet:98873/e"} xref: Orphanet:98873 {source="OMIM:224100", source="MONDO:equivalentTo"} xref: SCTID:68870007 {source="MONDO:equivalentTo"} -xref: UMLS:C1306589 {source="Orphanet:98873", source="NCBI:mim2gene_medline", source="OMIM:224100", source="MONDO:notFoundInDiseaseSubset", source="ORDO:98873/e"} +xref: UMLS:C1306589 {source="Orphanet:98873", source="NCBI:mim2gene_medline", source="OMIM:224100", source="Orphanet:98873/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017749 {source="Orphanet:98873"} ! disorder of multiple glycosylation is_a: MONDO:0019403 {source="DC-OMIM:224100", source="OMIM:224100", source="Orphanet:98873", source="linkedlifedata"} ! congenital dyserythropoietic anemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10702 {source="mim2gene_medgen"} ! SEC23B @@ -170764,13 +170732,13 @@ subset: gard_rare {source="GARD:0002012"} subset: ordo_malformation_syndrome {source="Orphanet:1782"} synonym: "dysosteosclerosis" EXACT [OMIM:224300] xref: GARD:0002012 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:1782", source="ORDO:1782/attributed", source="ORDO:1782/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:1782/attributed", source="Orphanet:1782/ntbt", source="Orphanet:1782"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562973 {source="MONDO:equivalentTo"} -xref: OMIM:224300 {source="ORDO:1782/e", source="Orphanet:1782", source="MONDO:equivalentTo"} +xref: OMIM:224300 {source="Orphanet:1782", source="MONDO:equivalentTo", source="Orphanet:1782/e"} xref: Orphanet:1782 {source="MONDO:equivalentTo", source="OMIM:224300"} xref: SCTID:254123002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432262 {source="ORDO:1782/e", source="Orphanet:1782", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:224300"} +xref: UMLS:C0432262 {source="Orphanet:1782", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:224300", source="Orphanet:1782/e"} is_a: MONDO:0017198 {source="Orphanet:1782"} ! osteopetrosis property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis xsd:anyURI {source="GARD:0002012"} @@ -170788,13 +170756,13 @@ synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400] xref: GARD:0009810 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:156731", source="ORDO:156731/attributed", source="ORDO:156731/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:156731/attributed", source="Orphanet:156731/ntbt", source="Orphanet:156731"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537999 {source="Orphanet:156731", source="ORDO:156731/e", source="MONDO:equivalentTo"} -xref: OMIM:224400 {source="Orphanet:156731", source="ORDO:156731/e", source="MONDO:equivalentTo"} +xref: MESH:C537999 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} +xref: OMIM:224400 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} xref: Orphanet:156731 {source="MONDO:equivalentTo", source="OMIM:224400"} xref: SCTID:95243004 {source="MONDO:equivalentTo"} -xref: UMLS:C0432209 {source="Orphanet:156731", source="NCBI:mim2gene_medline", source="ORDO:156731/e", source="MONDO:equivalentTo", source="OMIM:224400"} +xref: UMLS:C0432209 {source="Orphanet:156731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:224400", source="Orphanet:156731/e"} is_a: MONDO:0016761 {source="Orphanet:156731"} ! spondyloepiphyseal dysplasia property_value: confidence "15.38888888888889" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type xsd:anyURI {source="GARD:0009810"} @@ -170814,10 +170782,10 @@ synonym: "dyssegmental dysplasia Silverman-Handmaker type" RELATED [GARD:0002026 synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical, OMIM:224410] xref: DOID:0090032 {source="MONDO:equivalentTo"} xref: GARD:0002026 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="DOID:0090032", source="ORDO:1865/attributed", source="ORDO:1865/ntbt", source="Orphanet:1865"} +xref: ICD10CM:Q77.7 {source="DOID:0090032", source="Orphanet:1865", source="Orphanet:1865/attributed", source="Orphanet:1865/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537998 {source="MONDO:equivalentTo"} -xref: OMIM:224410 {source="DOID:0090032", source="MONDO:equivalentTo", source="ORDO:1865/e", source="Orphanet:1865"} +xref: OMIM:224410 {source="DOID:0090032", source="MONDO:equivalentTo", source="Orphanet:1865", source="Orphanet:1865/e"} xref: Orphanet:1865 {source="DOID:0090032", source="MONDO:equivalentTo", source="OMIM:224410"} xref: SCTID:93132001 {source="MONDO:equivalentTo"} xref: UMLS:C0432208 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -170846,10 +170814,10 @@ synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028] synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1] xref: DOID:0090038 {source="MONDO:equivalentTo"} xref: GARD:0002028 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="Orphanet:99657", source="DOID:0090038", source="ORDO:99657/attributed", source="ORDO:99657/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:99657/attributed", source="Orphanet:99657/ntbt", source="Orphanet:99657", source="DOID:0090038"} xref: MESH:C538006 {source="MONDO:equivalentTo"} xref: NCIT:C123415 {source="MONDO:equivalentTo"} -xref: OMIM:224500 {source="ORDO:99657/e", source="Orphanet:99657", source="MONDO:equivalentTo", source="DOID:0090038"} +xref: OMIM:224500 {source="Orphanet:99657", source="MONDO:equivalentTo", source="DOID:0090038", source="Orphanet:99657/e"} xref: Orphanet:99657 {source="MONDO:equivalentTo", source="DOID:0090038", source="OMIM:224500"} xref: UMLS:C1857093 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:224500", source="NCIT:C123415"} is_a: MONDO:0015990 {source="Orphanet:99657"} ! focal, segmental or multifocal dystonia @@ -170913,16 +170881,16 @@ synonym: "Ebstein's malformation" RELATED [GARD:0006313] xref: DOID:14289 {source="MONDO:equivalentTo", source="EFO:0007244"} xref: EFO:0007244 {source="MONDO:equivalentTo"} xref: GARD:0006313 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q22.5 {source="Orphanet:1880", source="ORDO:1880/e", source="ORDO:1880/specific", source="DOID:14289"} +xref: ICD10CM:Q22.5 {source="Orphanet:1880", source="Orphanet:1880/e", source="DOID:14289", source="Orphanet:1880/specific"} xref: ICD9:746.2 {source="DOID:14289"} -xref: MedDRA:10014075 {source="Orphanet:1880", source="ORDO:1880/e"} +xref: MedDRA:10014075 {source="Orphanet:1880", source="Orphanet:1880/e"} xref: MESH:D004437 {source="MONDO:equivalentTo", source="DOID:14289", source="EFO:0007244"} xref: NCIT:C84681 {source="MONDO:equivalentTo", source="DOID:14289"} -xref: OMIM:224700 {source="Orphanet:1880", source="ORDO:1880/e", source="MONDO:equivalentTo", source="DOID:14289"} +xref: OMIM:224700 {source="Orphanet:1880", source="MONDO:equivalentTo", source="Orphanet:1880/e", source="DOID:14289"} xref: Orphanet:1880 {source="MONDO:equivalentTo", source="OMIM:224700"} xref: SCTID:1796006 {source="DOID:14289"} xref: SCTID:204357006 {source="DOID:14289"} -xref: UMLS:C0013481 {source="Orphanet:1880", source="ORDO:1880/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84681", source="DOID:14289", source="OMIM:224700"} +xref: UMLS:C0013481 {source="Orphanet:1880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1880/e", source="NCIT:C84681", source="DOID:14289", source="OMIM:224700"} is_a: MONDO:0000471 {source="DOID:14289", source="indirect"} ! tricuspid valve disorder is_a: MONDO:0020289 {source="Orphanet:1880"} ! congenital tricuspid malformation relationship: disease_has_feature HP:0010316 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Ebstein anomaly of the tricuspid valve @@ -170946,10 +170914,10 @@ synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical, OMIM:224750] synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [Orphanet:50944] synonym: "SSPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224750, Orphanet:50944] xref: DOID:0111647 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:50944/attributed", source="ORDO:50944/ntbt", source="Orphanet:50944"} +xref: ICD10CM:Q82.8 {source="Orphanet:50944/attributed", source="Orphanet:50944/ntbt", source="Orphanet:50944"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565607 {source="MONDO:equivalentTo"} -xref: OMIM:224750 {source="MONDO:equivalentTo", source="ORDO:50944/e", source="Orphanet:50944"} +xref: OMIM:224750 {source="Orphanet:50944/e", source="MONDO:equivalentTo", source="Orphanet:50944"} xref: Orphanet:50944 {source="OMIM:224750", source="MONDO:equivalentTo"} xref: SCTID:700062000 {source="MONDO:equivalentTo"} xref: UMLS:C1857069 {source="OMIM:224750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:50944"} @@ -170974,7 +170942,7 @@ synonym: "Mikaelian syndrome" RELATED [GARD:0009723, MESH:C535757] xref: GARD:0009723 {source="MONDO:equivalentTo"} xref: MESH:C535757 {source="MONDO:equivalentTo"} xref: MESH:C565606 {source="MONDO:equivalentTo"} -xref: OMIM:224800 {source="GARD:0009723", source="ORDO:1883/e", source="Orphanet:1883", source="MONDO:equivalentTo"} +xref: OMIM:224800 {source="GARD:0009723", source="Orphanet:1883", source="MONDO:equivalentTo", source="Orphanet:1883/e"} xref: Orphanet:1883 {source="MONDO:equivalentTo", source="OMIM:224800"} xref: UMLS:C1857068 {source="NCBI:mim2gene_medline", source="Orphanet:1883", source="MONDO:equivalentTo", source="OMIM:224800"} xref: UMLS:C2931012 {source="GARD:0009723", source="MONDO:notFoundInDiseaseSubset"} @@ -170996,7 +170964,7 @@ xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:224900"} xref: Orphanet:248 {source="MONDO:subClassOf", source="OMIM:224900"} xref: UMLS:C0406702 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:224900"} xref: UMLS:C3887494 {source="MONDO:equivalentTo"} -is_a: MONDO:0016619 {source="ORDO:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia +is_a: MONDO:0016619 {source="Orphanet:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:224900", source="indirect"} ! ectodermal dysplasia syndrome property_value: confidence "1.013902333975493" xsd:double @@ -171020,9 +170988,9 @@ name: ectodermal dysplasia-intellectual disability-central nervous system malfor def: "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." [Orphanet:1812] subset: ordo_malformation_syndrome {source="Orphanet:1812"} synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [OMIM:225040] -xref: ICD10CM:Q87.8 {source="ORDO:1812/attributed", source="ORDO:1812/ntbt", source="Orphanet:1812"} +xref: ICD10CM:Q87.8 {source="Orphanet:1812/attributed", source="Orphanet:1812/ntbt", source="Orphanet:1812"} xref: MESH:C565605 {source="MONDO:equivalentTo"} -xref: OMIM:225040 {source="MONDO:equivalentTo", source="ORDO:1812/e", source="Orphanet:1812"} +xref: OMIM:225040 {source="Orphanet:1812/e", source="MONDO:equivalentTo", source="Orphanet:1812"} xref: Orphanet:1812 {source="MONDO:equivalentTo", source="OMIM:225040"} xref: UMLS:C1857053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1812", source="OMIM:225040"} is_a: MONDO:0019287 {source="MESH:C565605", source="Orphanet:1812"} ! ectodermal dysplasia syndrome @@ -171042,9 +171010,9 @@ synonym: "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesi synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism" RELATED [GARD:0002049] synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049] xref: GARD:0002049 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="Orphanet:1882", source="ORDO:1882/attributed", source="ORDO:1882/ntbt"} +xref: ICD10CM:Q82.4 {source="Orphanet:1882", source="Orphanet:1882/attributed", source="Orphanet:1882/ntbt"} xref: MESH:C565604 {source="MONDO:equivalentTo"} -xref: OMIM:225050 {source="Orphanet:1882", source="ORDO:1882/e", source="GARD:0002049", source="MONDO:equivalentTo"} +xref: OMIM:225050 {source="Orphanet:1882", source="GARD:0002049", source="MONDO:equivalentTo", source="Orphanet:1882/e"} xref: Orphanet:1882 {source="GARD:0002049", source="MONDO:equivalentTo", source="OMIM:225050"} xref: SCTID:239050000 {source="MONDO:equivalentTo"} xref: UMLS:C1857052 {source="Orphanet:1882", source="GARD:0002049", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:225050"} @@ -171087,9 +171055,9 @@ xref: DOID:0060773 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: DOID:0080400 {source="MONDO:equivalentTo"} xref: GARD:0000375 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0001045 {source="MONDO:equivalentTo"} -xref: MESH:C536726 {source="Orphanet:3253", source="ORDO:3253/e"} +xref: MESH:C536726 {source="Orphanet:3253/e", source="Orphanet:3253"} xref: NCIT:C122656 {source="MONDO:equivalentTo"} -xref: OMIM:225060 {source="GARD:0001045", source="DOID:0060773", source="MONDO:equivalentTo", source="Orphanet:3253", source="ORDO:3253/e"} +xref: OMIM:225060 {source="GARD:0001045", source="Orphanet:3253/e", source="DOID:0060773", source="MONDO:equivalentTo", source="Orphanet:3253"} xref: Orphanet:1991 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:225060"} xref: Orphanet:320317 {source="MONDO:equivalentTo"} xref: Orphanet:3253 {source="DOID:0060773", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:225060"} @@ -171138,7 +171106,7 @@ xref: OMIM:225200 {source="MONDO:equivalentTo"} xref: Orphanet:1885 {source="MONDO:subClassOf", source="OMIM:225200"} xref: SCTID:419237004 {source="MONDO:equivalentTo"} xref: UMLS:C1644196 {source="NCBI:mim2gene_medline", source="OMIM:225200", source="MONDO:equivalentTo"} -is_a: MONDO:0015998 {source="ORDO:1885/btnt"} ! isolated ectopia lentis +is_a: MONDO:0015998 {source="Orphanet:1885/btnt"} ! isolated ectopia lentis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19706 {source="mim2gene_medgen"} ! ADAMTSL4 property_value: confidence "39.499999999999936" xsd:double @@ -171184,12 +171152,12 @@ synonym: "EEM syndrome" EXACT CLINGEN_PREFERRED [OMIM:225280] synonym: "EEMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225280] xref: DOID:0111649 {source="MONDO:equivalentTo"} xref: GARD:0002078 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1897/attributed", source="ORDO:1897/ntbt", source="Orphanet:1897"} +xref: ICD10CM:Q87.8 {source="Orphanet:1897", source="Orphanet:1897/attributed", source="Orphanet:1897/ntbt"} xref: MESH:C536190 {source="MONDO:equivalentTo"} -xref: OMIM:225280 {source="MONDO:equivalentTo", source="Orphanet:1897", source="ORDO:1897/e"} +xref: OMIM:225280 {source="MONDO:equivalentTo", source="Orphanet:1897", source="Orphanet:1897/e"} xref: Orphanet:1897 {source="MONDO:equivalentTo", source="OMIM:225280"} xref: SCTID:720856002 {source="MONDO:equivalentTo"} -xref: UMLS:C1857041 {source="NCBI:mim2gene_medline", source="Orphanet:1897", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1897/e", source="OMIM:225280"} +xref: UMLS:C1857041 {source="NCBI:mim2gene_medline", source="Orphanet:1897", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1897/e", source="OMIM:225280"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -171208,9 +171176,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1892"} synonym: "ectrodactyly polydactyly" EXACT [MONDO:0023052] synonym: "ectrodactyly-polydactyly" EXACT [OMIM:225290] xref: GARD:0002068 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:1892", source="ORDO:1892/attributed", source="ORDO:1892/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:1892/attributed", source="Orphanet:1892/ntbt", source="Orphanet:1892"} xref: MESH:C565601 {source="MONDO:equivalentTo"} -xref: OMIM:225290 {source="GARD:0002068", source="ORDO:1892/e", source="Orphanet:1892", source="MONDO:equivalentTo"} +xref: OMIM:225290 {source="GARD:0002068", source="Orphanet:1892", source="MONDO:equivalentTo", source="Orphanet:1892/e"} xref: Orphanet:1892 {source="MONDO:equivalentTo", source="OMIM:225290"} xref: UMLS:C1857040 {source="GARD:0002068", source="Orphanet:1892", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225290"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -171259,9 +171227,9 @@ synonym: "Ehlers-Danlos syndrome, type 10" RELATED [OMIM:225310] synonym: "Ehlers-Danlos syndrome, type X (formerly)" RELATED [GARD:0008508] synonym: "FN Abnormality" RELATED [OMIM:225310] xref: GARD:0008508 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75501", source="ORDO:75501/attributed", source="ORDO:75501/ntbt"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75501/attributed", source="Orphanet:75501/ntbt", source="Orphanet:75501"} xref: MESH:C565600 {source="MONDO:equivalentTo"} -xref: OMIM:225310 {source="ORDO:75501/e", source="Orphanet:75501", source="MONDO:equivalentTo"} +xref: OMIM:225310 {source="Orphanet:75501", source="MONDO:equivalentTo", source="Orphanet:75501/e"} xref: Orphanet:75501 {source="MONDO:equivalentObsolete", source="OMIM:225310"} xref: SCTID:83586000 {source="MONDO:equivalentTo"} xref: UMLS:C1857038 {source="NCBI:mim2gene_medline", source="OMIM:225310", source="Orphanet:75501", source="MONDO:notFoundInDiseaseSubset"} @@ -171287,12 +171255,12 @@ synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RE synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200] synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [OMIM:225320] xref: GARD:0012613 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:230851/attributed", source="ORDO:230851/ntbt", source="Orphanet:230851"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230851", source="Orphanet:230851/attributed", source="Orphanet:230851/ntbt"} xref: MESH:C536200 {source="MONDO:equivalentTo"} -xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="ORDO:230851/e"} +xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="Orphanet:230851/e"} xref: Orphanet:230851 {source="OMIM:225320", source="MONDO:equivalentTo"} xref: SCTID:720858001 {source="MONDO:equivalentTo"} -xref: UMLS:C1857034 {source="OMIM:225320", source="NCBI:mim2gene_medline", source="Orphanet:230851", source="MONDO:notFoundInDiseaseSubset", source="ORDO:230851/e"} +xref: UMLS:C1857034 {source="OMIM:225320", source="NCBI:mim2gene_medline", source="Orphanet:230851", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:230851/e"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0020066 {source="DC-OMIM:225320", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851", source="linkedlifedata"} ! Ehlers-Danlos syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2198 {source="mim2gene_medgen"} ! COL1A2 @@ -171322,12 +171290,12 @@ synonym: "Ehlers-Danlos syndrome type 7C (formerly)" RELATED [GARD:0002089] synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT CLINGEN_PREFERRED [OMIM:225410] synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:225410] xref: GARD:0002089 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:1901/attributed", source="ORDO:1901/ntbt", source="Orphanet:1901"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:1901", source="Orphanet:1901/attributed", source="Orphanet:1901/ntbt"} xref: MESH:C567527 {source="MONDO:equivalentTo"} -xref: OMIM:225410 {source="MONDO:equivalentTo", source="Orphanet:1901", source="ORDO:1901/e"} +xref: OMIM:225410 {source="Orphanet:1901/e", source="MONDO:equivalentTo", source="Orphanet:1901"} xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"} xref: SCTID:55711009 {source="MONDO:equivalentTo"} -xref: UMLS:C2700425 {source="OMIM:225410", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1901", source="ORDO:1901/e"} +xref: UMLS:C2700425 {source="Orphanet:1901/e", source="OMIM:225410", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1901"} is_a: MONDO:0020066 {source="DC-OMIM:225410", source="MESH:C567527", source="OMIM:225410", source="Orphanet:1901", source="linkedlifedata"} ! Ehlers-Danlos syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/218 {source="mim2gene_medgen"} ! ADAMTS2 property_value: confidence "5.0" xsd:double @@ -171347,16 +171315,16 @@ synonym: "mesodermic dysplasia" EXACT [Orphanet:289] synonym: "Mesoectodermal dysplasia" RELATED [OMIM:225500] xref: DOID:12714 {source="MONDO:equivalentTo"} xref: GARD:0001301 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.6 {source="ORDO:289/inclusion", source="DOID:12714", source="ORDO:289/ntbt", source="Orphanet:289"} +xref: ICD10CM:Q77.6 {source="DOID:12714", source="Orphanet:289/ntbt", source="Orphanet:289/inclusion", source="Orphanet:289"} xref: ICD9:756.55 {source="DOID:12714", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10008724 {source="ORDO:289/e", source="Orphanet:289"} -xref: MESH:D004613 {source="DOID:12714", source="MONDO:equivalentTo", source="ORDO:289/e", source="Orphanet:289"} +xref: MedDRA:10008724 {source="Orphanet:289/e", source="Orphanet:289"} +xref: MESH:D004613 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="Orphanet:289"} xref: NCIT:C84684 {source="DOID:12714", source="MONDO:equivalentTo"} -xref: OMIM:225500 {source="DOID:12714", source="MONDO:equivalentTo", source="ORDO:289/e", source="Orphanet:289"} -xref: OMIM:617088 {source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="ORDO:289/btnt", source="Orphanet:289"} +xref: OMIM:225500 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="Orphanet:289"} +xref: OMIM:617088 {source="MONDO:superClassOf", source="Orphanet:289/btnt", source="MONDO:directSiblingOf", source="Orphanet:289"} xref: Orphanet:289 {source="MONDO:equivalentTo", source="OMIM:225500"} xref: SCTID:62501005 {source="DOID:12714", source="MONDO:equivalentTo"} -xref: UMLS:C0013903 {source="DOID:12714", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225500", source="NCIT:C84684", source="ORDO:289/e", source="Orphanet:289"} +xref: UMLS:C0013903 {source="Orphanet:289/e", source="DOID:12714", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225500", source="NCIT:C84684", source="Orphanet:289"} xref: UMLS:CN239258 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:0009162/inferred", source="MONDO:Redundant", source="NCIT:C84684", source="indirect"} ! syndromic disease is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -171430,12 +171398,12 @@ synonym: "PCH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225753, Orphanet:166063] synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:225753] xref: DOID:0060273 {source="MONDO:equivalentTo"} xref: GARD:0000343 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:166063/attributed", source="ORDO:166063/ntbt", source="Orphanet:166063"} -xref: MESH:C536716 {source="MONDO:equivalentTo", source="ORDO:166063/e", source="DOID:0060273", source="Orphanet:166063"} -xref: OMIM:225753 {source="MONDO:equivalentTo", source="ORDO:166063/e", source="DOID:0060273", source="Orphanet:166063"} +xref: ICD10CM:Q04.3 {source="Orphanet:166063/attributed", source="Orphanet:166063/ntbt", source="Orphanet:166063"} +xref: MESH:C536716 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} +xref: OMIM:225753 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} xref: Orphanet:166063 {source="MONDO:equivalentTo", source="OMIM:225753", source="DOID:0060273"} xref: SCTID:718608006 {source="MONDO:equivalentTo"} -xref: UMLS:C1856974 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225753", source="ORDO:166063/e", source="DOID:0060273", source="Orphanet:166063"} +xref: UMLS:C1856974 {source="NCBI:mim2gene_medline", source="Orphanet:166063/e", source="MONDO:equivalentTo", source="OMIM:225753", source="DOID:0060273", source="Orphanet:166063"} is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063", source="linkedlifedata"} ! pontocerebellar hypoplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27561 {source="mim2gene_medgen"} ! TSEN54 property_value: confidence "249.00000000000298" xsd:double @@ -171452,9 +171420,9 @@ synonym: "encephalopathy intracranial calcification growth hormone deficiency mi synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [OMIM:225755] synonym: "encephalopathy-intracerebral calcification-retinal degeneration syndrome" EXACT [Orphanet:1261] xref: GARD:0002113 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="ORDO:1261/attributed", source="ORDO:1261/ntbt", source="Orphanet:1261"} +xref: ICD10CM:Q04.8 {source="Orphanet:1261/attributed", source="Orphanet:1261/ntbt", source="Orphanet:1261"} xref: MESH:C565594 {source="MONDO:equivalentTo"} -xref: OMIM:225755 {source="GARD:0002113", source="MONDO:equivalentTo", source="ORDO:1261/e", source="Orphanet:1261"} +xref: OMIM:225755 {source="GARD:0002113", source="Orphanet:1261/e", source="MONDO:equivalentTo", source="Orphanet:1261"} xref: Orphanet:1261 {source="MONDO:equivalentTo", source="OMIM:225755"} xref: SCTID:733049004 {source="MONDO:equivalentTo"} xref: UMLS:C1856973 {source="GARD:0002113", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225755", source="Orphanet:1261"} @@ -171479,13 +171447,13 @@ synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [Or synonym: "PVHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225790] xref: DOID:0111666 {source="MONDO:equivalentTo"} xref: ICD9:596.59 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071718 {source="ORDO:221126/e", source="Orphanet:221126"} +xref: MedDRA:10071718 {source="Orphanet:221126", source="Orphanet:221126/e"} xref: MESH:C565593 {source="MONDO:equivalentTo"} -xref: OMIM:225790 {source="ORDO:221126/e", source="MONDO:equivalentTo", source="Orphanet:221126"} +xref: OMIM:225790 {source="MONDO:equivalentTo", source="Orphanet:221126", source="Orphanet:221126/e"} xref: Orphanet:221126 {source="OMIM:225790", source="MONDO:equivalentTo"} xref: SCTID:700242002 {source="MONDO:equivalentTo"} xref: UMLS:C1856972 {source="OMIM:225790", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221126"} -xref: UMLS:C3203738 {source="ORDO:221126/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221126"} +xref: UMLS:C3203738 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221126", source="Orphanet:221126/e"} is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:221126", source="Orphanet:221126/inferred"} ! genetic nervous system disorder is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:221126", source="Orphanet:221126/inferred"} ! disorder of development or morphogenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20105 {source="mim2gene_medgen"} ! FLVCR2 @@ -171506,15 +171474,15 @@ synonym: "endomyocardial fibroelastosis" RELATED [Orphanet:2022] xref: DOID:12929 {source="MONDO:equivalentTo", source="EFO:0007251"} xref: EFO:0007251 {source="MONDO:equivalentTo"} xref: GARD:0006336 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="ORDO:2022/specific", source="DOID:12929", source="ORDO:2022/e"} +xref: ICD10CM:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929", source="Orphanet:2022/specific"} xref: ICD9:425.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:12929"} -xref: MedDRA:10014663 {source="Orphanet:2022", source="ORDO:2022/e"} +xref: MedDRA:10014663 {source="Orphanet:2022", source="Orphanet:2022/e"} xref: MESH:D004695 {source="MONDO:equivalentTo", source="DOID:12929", source="EFO:0007251"} xref: NCIT:C98922 {source="MONDO:equivalentTo", source="DOID:12929"} -xref: OMIM:226000 {source="Orphanet:2022", source="MONDO:equivalentTo", source="DOID:12929", source="ORDO:2022/e"} +xref: OMIM:226000 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929"} xref: Orphanet:2022 {source="OMIM:226000", source="MONDO:equivalentTo"} xref: SCTID:65457005 {source="MONDO:equivalentTo", source="DOID:12929"} -xref: UMLS:C0014117 {source="OMIM:226000", source="NCIT:C98922", source="Orphanet:2022", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:12929", source="ORDO:2022/e"} +xref: UMLS:C0014117 {source="OMIM:226000", source="NCIT:C98922", source="Orphanet:2022", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929"} is_a: MONDO:0000470 {source="DOID:12929", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! endocardium disorder relationship: excluded_subClassOf MONDO:0016333 {source="MONDO:Redundant", source="Orphanet:2022"} ! familial dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016340 {source="MONDO:Redundant", source="Orphanet:2022"} ! familial restrictive cardiomyopathy @@ -171567,10 +171535,10 @@ synonym: "congenital enterokinase deficiency" EXACT [Orphanet:168601] synonym: "enterokinase deficiency" RELATED [OMIM:226200] synonym: "enteropeptidase deficiency" RELATED [OMIM:226200] xref: DOID:0111667 {source="MONDO:equivalentTo"} -xref: ICD10CM:K90.8 {source="ORDO:168601/attributed", source="ORDO:168601/ntbt", source="Orphanet:168601"} +xref: ICD10CM:K90.8 {source="Orphanet:168601", source="Orphanet:168601/attributed", source="Orphanet:168601/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562649 {source="MONDO:equivalentTo"} -xref: OMIM:226200 {source="ORDO:168601/e", source="MONDO:equivalentTo", source="Orphanet:168601"} +xref: OMIM:226200 {source="MONDO:equivalentTo", source="Orphanet:168601", source="Orphanet:168601/e"} xref: Orphanet:168601 {source="OMIM:226200", source="MONDO:equivalentTo"} xref: SCTID:190952002 {source="MONDO:equivalentTo"} xref: UMLS:C0268416 {source="OMIM:226200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168601"} @@ -171617,14 +171585,14 @@ synonym: "eosinophilic fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6 synonym: "Shulman syndrome" EXACT [Orphanet:3165] xref: GARD:0006351 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0045029 {source="MONDO:otherHierarchy"} -xref: ICD10CM:M35.4 {source="Orphanet:3165", source="ORDO:3165/e"} +xref: ICD10CM:M35.4 {source="Orphanet:3165/e", source="Orphanet:3165"} xref: ICD9:728.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10014954 {source="Orphanet:3165", source="ORDO:3165/e"} +xref: MedDRA:10014954 {source="Orphanet:3165/e", source="Orphanet:3165"} xref: NCIT:C112116 {source="MONDO:equivalentTo"} -xref: OMIM:226350 {source="MONDO:equivalentTo", source="Orphanet:3165", source="ORDO:3165/e"} +xref: OMIM:226350 {source="Orphanet:3165/e", source="MONDO:equivalentTo", source="Orphanet:3165"} xref: Orphanet:3165 {source="MONDO:equivalentTo", source="OMIM:226350"} xref: SCTID:24129002 {source="MONDO:equivalentTo"} -xref: UMLS:C0264005 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C112116", source="OMIM:226350", source="Orphanet:3165", source="ORDO:3165/e"} +xref: UMLS:C0264005 {source="Orphanet:3165/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C112116", source="OMIM:226350", source="Orphanet:3165"} is_a: MONDO:0004830 {source="NCIT:C112116", source="linkedlifedata"} ! fasciitis is_a: MONDO:0020122 {source="Orphanet:3165"} ! acquired idiopathic inflammatory myopathy property_value: confidence "4.277777777777778" xsd:double @@ -171644,18 +171612,18 @@ synonym: "Lewandowsky-Lutz syndrome" EXACT [Orphanet:302] synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302] xref: DOID:13777 {source="MONDO:equivalentTo"} xref: GARD:0006357 {source="MONDO:equivalentTo"} -xref: ICD10CM:B07 {source="Orphanet:302", source="ORDO:302/index", source="ORDO:302/ntbt"} +xref: ICD10CM:B07 {source="Orphanet:302", source="Orphanet:302/index", source="Orphanet:302/ntbt"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10052339 {source="Orphanet:302", source="ORDO:302/e"} -xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="ORDO:302/e"} +xref: MedDRA:10052339 {source="Orphanet:302", source="Orphanet:302/e"} +xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="Orphanet:302/e"} xref: NCIT:C126877 {source="MONDO:equivalentTo"} -xref: OMIM:226400 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="ORDO:302/e"} -xref: OMIM:305350 {source="Orphanet:302", source="MONDO:superClassOf", source="ORDO:302/btnt"} +xref: OMIM:226400 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="Orphanet:302/e"} +xref: OMIM:305350 {source="Orphanet:302", source="Orphanet:302/btnt", source="MONDO:superClassOf"} xref: OMIMPS:226400 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:226400", source="MONDO:equivalentTo"} xref: SCTID:19138001 {source="DOID:13777", source="MONDO:equivalentTo"} -xref: UMLS:C0014522 {source="Orphanet:302", source="DOID:13777", source="OMIM:226400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126877", source="ORDO:302/e"} +xref: UMLS:C0014522 {source="Orphanet:302", source="DOID:13777", source="OMIM:226400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:302/e", source="NCIT:C126877"} is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0005093 ! skin disorder is_a: MONDO:0015135 {source="MONDO:0018033-obsoleted"} ! primary immunodeficiency due to a genetic defect in innate immunity @@ -171673,11 +171641,11 @@ synonym: "epidermolysis bullosa simplex localisata associated with anodontia, ha synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [OMIM:226440] synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [OMIM:226440] xref: GARD:0000299 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q81.8 {source="ORDO:231556/attributed", source="ORDO:231556/ntbt", source="Orphanet:231556"} +xref: ICD10CM:Q81.8 {source="Orphanet:231556", source="Orphanet:231556/attributed", source="Orphanet:231556/ntbt"} xref: MESH:C535492 {source="MONDO:equivalentTo"} -xref: OMIM:226440 {source="MONDO:equivalentTo", source="ORDO:231556/e", source="Orphanet:231556"} +xref: OMIM:226440 {source="MONDO:equivalentTo", source="Orphanet:231556", source="Orphanet:231556/e"} xref: Orphanet:231556 {source="OMIM:226440", source="MONDO:equivalentTo"} -xref: UMLS:C1856969 {source="OMIM:226440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:231556/e", source="Orphanet:231556"} +xref: UMLS:C1856969 {source="OMIM:226440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:231556", source="Orphanet:231556/e"} is_a: MONDO:0017612 {source="Orphanet:231556"} ! junctional epidermolysis bullosa property_value: confidence "3.533333333333334" xsd:double @@ -171722,9 +171690,9 @@ synonym: "severe generalized RDEB" NARROW [DOID:0060642, Orphanet:79408] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642] xref: DOID:0060642 {source="MONDO:equivalentTo"} xref: GARD:0006308 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q81.2 {source="DOID:0060642", source="Orphanet:79408", source="ORDO:79408/attributed", source="ORDO:79408/ntbt"} +xref: ICD10CM:Q81.2 {source="DOID:0060642", source="Orphanet:79408", source="Orphanet:79408/attributed", source="Orphanet:79408/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:226600 {source="ORDO:79408/e", source="DOID:0060642", source="MONDO:equivalentTo", source="Orphanet:79408"} +xref: OMIM:226600 {source="DOID:0060642", source="MONDO:equivalentTo", source="Orphanet:79408", source="Orphanet:79408/e"} xref: Orphanet:79408 {source="DOID:0060642", source="MONDO:equivalentTo", source="OMIM:226600"} xref: Orphanet:79409 {source="OMIM:226600", source="MONDO:superClassOf"} xref: SCTID:48528004 {source="MONDO:equivalentTo"} @@ -171752,9 +171720,9 @@ synonym: "JEB-nH" RELATED [GARD:0002151] synonym: "JEN-nH" EXACT [Orphanet:89840] synonym: "junctional epidermolysis bullosa inversa" RELATED [OMIM:226650] xref: GARD:0002151 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q81.8 {source="ORDO:89840/attributed", source="ORDO:89840/ntbt", source="Orphanet:89840"} +xref: ICD10CM:Q81.8 {source="Orphanet:89840/attributed", source="Orphanet:89840/ntbt", source="Orphanet:89840"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:226650 {source="MONDO:equivalentTo", source="ORDO:89840/e", source="Orphanet:89840"} +xref: OMIM:226650 {source="Orphanet:89840/e", source="MONDO:equivalentTo", source="Orphanet:89840"} xref: Orphanet:251393 {source="OMIM:226650", source="MONDO:superClassOf"} xref: Orphanet:79402 {source="OMIM:226650", source="MONDO:superClassOf"} xref: Orphanet:79405 {source="OMIM:226650", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} @@ -171789,9 +171757,9 @@ synonym: "MD-EBS" RELATED [GARD:0002137, OMIM:226670] synonym: "MDEBS" RELATED ABBREVIATION [GARD:0002137] xref: DOID:0090017 {source="MONDO:equivalentTo"} xref: GARD:0002137 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:257", source="DOID:0090017", source="ORDO:257/attributed", source="ORDO:257/ntbt"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:257", source="Orphanet:257/attributed", source="Orphanet:257/ntbt", source="DOID:0090017"} xref: MESH:C535955 {source="MONDO:equivalentTo"} -xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017", source="ORDO:257/e"} +xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:equivalentTo", source="Orphanet:257/e", source="DOID:0090017"} xref: Orphanet:257 {source="OMIM:226670", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017"} xref: SCTID:723308003 {source="MONDO:equivalentTo"} xref: UMLS:C2931072 {source="OMIM:226670", source="Orphanet:257", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -171826,8 +171794,8 @@ synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404] xref: DOID:0060737 {source="MONDO:equivalentTo"} xref: GARD:0002153 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.1 {source="Orphanet:79404", source="ORDO:79404/specific", source="DOID:0060737", source="ORDO:79404/e"} -xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source="DOID:0060737", source="ORDO:79404/e"} +xref: ICD10CM:Q81.1 {source="Orphanet:79404", source="Orphanet:79404/e", source="Orphanet:79404/specific", source="DOID:0060737"} +xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source="Orphanet:79404/e", source="DOID:0060737"} xref: Orphanet:79404 {source="MONDO:equivalentTo", source="OMIM:226700", source="DOID:0060737"} xref: SCTID:400140006 {source="MONDO:equivalentTo"} xref: UMLS:C0079683 {source="Orphanet:79404", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:226700"} @@ -171857,9 +171825,9 @@ synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [OMIM:226 synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID:0060733] xref: DOID:0060733 {source="MONDO:equivalentTo"} xref: GARD:0009694 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.8 {source="Orphanet:79403", source="DOID:0060733", source="ORDO:79403/attributed", source="ORDO:79403/ntbt"} +xref: ICD10CM:Q81.8 {source="Orphanet:79403", source="Orphanet:79403/attributed", source="Orphanet:79403/ntbt", source="DOID:0060733"} xref: MESH:C535377 {source="MONDO:equivalentTo"} -xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="DOID:0060733", source="ORDO:79403/e"} +xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="Orphanet:79403/e", source="DOID:0060733"} xref: Orphanet:79403 {source="OMIM:226730", source="MONDO:equivalentTo", source="DOID:0060733"} xref: UMLS:C1856934 {source="Orphanet:79403", source="OMIM:226730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017612 {source="DOID:0060733", source="Orphanet:79403"} ! junctional epidermolysis bullosa @@ -171893,9 +171861,9 @@ synonym: "Kohlschutter-Tonz syndrome" EXACT [Orphanet:1946] synonym: "KTZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226750] xref: DOID:0111668 {source="MONDO:equivalentTo"} xref: GARD:0003128 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.8 {source="ORDO:1946/attributed", source="ORDO:1946/ntbt", source="Orphanet:1946"} +xref: ICD10CM:G40.8 {source="Orphanet:1946/attributed", source="Orphanet:1946/ntbt", source="Orphanet:1946"} xref: MESH:C537213 {source="MONDO:equivalentTo"} -xref: OMIM:226750 {source="MONDO:equivalentTo", source="ORDO:1946/e", source="Orphanet:1946"} +xref: OMIM:226750 {source="Orphanet:1946/e", source="MONDO:equivalentTo", source="Orphanet:1946"} xref: Orphanet:1946 {source="OMIM:226750", source="MONDO:equivalentTo"} xref: SCTID:109478007 {source="MONDO:equivalentTo"} xref: UMLS:C0406740 {source="OMIM:226750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1946"} @@ -171927,7 +171895,7 @@ synonym: "epilepsy with bilateral occipital calcifications" RELATED [OMIM:226810 synonym: "familial unilateral and bilateral occipital calcifications and epilepsy" RELATED [GARD:0002166] xref: GARD:0002166 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535496 {source="MONDO:equivalentTo"} -xref: OMIM:226810 {source="MONDO:equivalentTo", source="Orphanet:1459", source="ORDO:1459/e"} +xref: OMIM:226810 {source="MONDO:equivalentTo", source="Orphanet:1459", source="Orphanet:1459/e"} xref: Orphanet:1459 {source="MONDO:equivalentTo", source="OMIM:226810"} xref: UMLS:C1856930 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:226810"} is_a: MONDO:0100029 {source="http://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy @@ -171943,11 +171911,11 @@ synonym: "epilepsy-telangiectasia" RELATED [OMIM:226850] synonym: "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED [GARD:0002168] synonym: "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED DEPRECATED [GARD:0002168] xref: GARD:0002168 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G40.8 {source="ORDO:1951/attributed", source="ORDO:1951/ntbt", source="Orphanet:1951"} -xref: MESH:C535497 {source="ORDO:1951/e", source="MONDO:equivalentTo", source="Orphanet:1951"} -xref: OMIM:226850 {source="ORDO:1951/e", source="MONDO:equivalentTo", source="Orphanet:1951"} +xref: ICD10CM:G40.8 {source="Orphanet:1951", source="Orphanet:1951/attributed", source="Orphanet:1951/ntbt"} +xref: MESH:C535497 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} +xref: OMIM:226850 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} xref: Orphanet:1951 {source="OMIM:226850", source="MONDO:equivalentTo"} -xref: UMLS:C1856929 {source="ORDO:1951/e", source="NCBI:mim2gene_medline", source="OMIM:226850", source="MONDO:equivalentTo", source="Orphanet:1951"} +xref: UMLS:C1856929 {source="NCBI:mim2gene_medline", source="OMIM:226850", source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1951", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015650 {source="Orphanet:1951"} ! epilepsy syndrome @@ -171976,12 +171944,12 @@ synonym: "rMED" EXACT [Orphanet:93307] synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0070300 {source="MONDO:equivalentTo"} xref: GARD:0009793 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="ORDO:93307/attributed", source="ORDO:93307/ntbt", source="Orphanet:93307"} -xref: MESH:C535504 {source="MONDO:equivalentTo", source="ORDO:93307/e", source="Orphanet:93307"} -xref: OMIM:226900 {source="MONDO:equivalentTo", source="ORDO:93307/e", source="Orphanet:93307"} +xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93307/attributed", source="Orphanet:93307/ntbt", source="Orphanet:93307"} +xref: MESH:C535504 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} +xref: OMIM:226900 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} xref: Orphanet:93307 {source="MONDO:equivalentTo", source="OMIM:226900"} xref: SCTID:715672007 {source="MONDO:equivalentTo"} -xref: UMLS:C1847593 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93307/e", source="OMIM:226900", source="Orphanet:93307"} +xref: UMLS:C1847593 {source="Orphanet:93307/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:226900", source="Orphanet:93307"} is_a: MONDO:0016648 {source="DC-OMIM:226900", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307", source="linkedlifedata"} ! multiple epiphyseal dysplasia is_a: MONDO:0019688 {source="Orphanet:93307"} ! sulfation-related bone disorder intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia @@ -172011,13 +171979,13 @@ synonym: "Lowry Wood syndrome" RELATED [GARD:0000264] synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960] synonym: "LWS" RELATED ABBREVIATION [GARD:0000264] xref: GARD:0000264 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:1824/attributed", source="ORDO:1824/ntbt", source="Orphanet:1824"} -xref: MedDRA:10062600 {source="Orphanet:1824", source="ORDO:1824/e"} -xref: MESH:C537038 {source="MONDO:equivalentTo", source="Orphanet:1824", source="ORDO:1824/e"} -xref: OMIM:226960 {source="MONDO:equivalentTo", source="Orphanet:1824", source="ORDO:1824/e"} +xref: ICD10CM:Q87.5 {source="Orphanet:1824", source="Orphanet:1824/attributed", source="Orphanet:1824/ntbt"} +xref: MedDRA:10062600 {source="Orphanet:1824/e", source="Orphanet:1824"} +xref: MESH:C537038 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} +xref: OMIM:226960 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} xref: Orphanet:1824 {source="OMIM:226960", source="MONDO:equivalentTo"} xref: SCTID:721975004 {source="MONDO:equivalentTo"} -xref: UMLS:C0796021 {source="NCBI:mim2gene_medline", source="OMIM:226960", source="MONDO:equivalentTo", source="Orphanet:1824", source="ORDO:1824/e"} +xref: UMLS:C0796021 {source="Orphanet:1824/e", source="NCBI:mim2gene_medline", source="OMIM:226960", source="MONDO:equivalentTo", source="Orphanet:1824"} is_a: MONDO:0019692 {source="Orphanet:1824"} ! multiple epiphyseal dysplasia and pseudoachondroplasia property_value: confidence "3.666666666666667" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome xsd:anyURI {source="GARD:0000264"} @@ -172040,13 +172008,13 @@ synonym: "Wolcott-Rallison syndrome" EXACT CLINGEN_PREFERRED [OMIM:226980] synonym: "WRS" EXACT ABBREVIATION [Orphanet:1667] xref: DOID:0090060 {source="MONDO:equivalentTo"} xref: GARD:0005589 {source="MONDO:equivalentTo"} -xref: ICD10CM:E13 {source="ORDO:1667/attributed", source="ORDO:1667/ntbt", source="Orphanet:1667", source="DOID:0090060"} -xref: MESH:C536739 {source="MONDO:equivalentTo", source="ORDO:1667/e", source="Orphanet:1667"} +xref: ICD10CM:E13 {source="Orphanet:1667", source="Orphanet:1667/attributed", source="Orphanet:1667/ntbt", source="DOID:0090060"} +xref: MESH:C536739 {source="MONDO:equivalentTo", source="Orphanet:1667", source="Orphanet:1667/e"} xref: NCIT:C131007 {source="MONDO:equivalentTo"} -xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="ORDO:1667/e", source="Orphanet:1667", source="DOID:0090060"} +xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="Orphanet:1667", source="DOID:0090060", source="Orphanet:1667/e"} xref: Orphanet:1667 {source="GARD:0005589", source="OMIM:226980", source="MONDO:equivalentTo", source="DOID:0090060"} xref: SCTID:254066006 {source="MONDO:equivalentTo"} -xref: UMLS:C0432217 {source="NCIT:C131007", source="GARD:0005589", source="OMIM:226980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1667/e", source="Orphanet:1667"} +xref: UMLS:C0432217 {source="NCIT:C131007", source="GARD:0005589", source="OMIM:226980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1667", source="Orphanet:1667/e"} is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C131007"} ! syndromic disease is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1667"} ! diabetes mellitus is_a: MONDO:0006025 {source="DOID:0090060", source="MONDO:Redundant"} ! autosomal recessive disease @@ -172087,8 +172055,8 @@ synonym: "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cel synonym: "IRF8 deficiency, autosomal recessive" EXACT [OMIM:614894] synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:614894] xref: GARD:0009534 {source="MONDO:equivalentTo"} -xref: ICD10CM:B27.0 {source="Orphanet:2566", source="ORDO:2566/ntbt"} -xref: OMIM:226990 {source="Orphanet:2566", source="ORDO:2566/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="GARD:0009534"} +xref: ICD10CM:B27.0 {source="Orphanet:2566/ntbt", source="Orphanet:2566"} +xref: OMIM:226990 {source="Orphanet:2566", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:2566/e", source="GARD:0009534"} xref: OMIM:614894 {source="MONDO:equivalentTo"} xref: Orphanet:2566 {source="OMIM:226990", source="MONDO:equivalentTo"} xref: UMLS:C1856901 {source="OMIM:226990", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -172124,16 +172092,16 @@ synonym: "ermine phenotype" EXACT [OMIM:227010] synonym: "O'Doherty syndrome" EXACT [Orphanet:999] synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999] xref: GARD:0000407 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:999", source="ORDO:999/attributed", source="ORDO:999/ntbt"} +xref: ICD10CM:E70.3 {source="Orphanet:999/attributed", source="Orphanet:999/ntbt", source="MONDO:relatedTo", source="Orphanet:999"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} xref: MEDGEN:82812 {source="UMLS:C0268501"} -xref: MESH:C535508 {source="ORDO:999/e", source="Orphanet:999", source="MONDO:equivalentTo"} +xref: MESH:C535508 {source="Orphanet:999", source="MONDO:equivalentTo", source="Orphanet:999/e"} xref: MESH:C562663 {source="MONDO:equivalentTo", source="UMLS:C0268501"} -xref: OMIM:227010 {source="ORDO:999/e", source="Orphanet:999", source="MONDO:equivalentTo", source="UMLS:C0268501"} +xref: OMIM:227010 {source="Orphanet:999", source="MONDO:equivalentTo", source="UMLS:C0268501", source="Orphanet:999/e"} xref: Orphanet:999 {source="MONDO:equivalentTo", source="OMIM:227010"} xref: SCTID:10170007 {source="MONDO:equivalentTo", source="UMLS:C0268501"} xref: UMLS:C0268501 {source="MONDO:equivalentTo", source="OMIM:227010"} -xref: UMLS:C1856899 {source="ORDO:999/e", source="Orphanet:999", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227010"} +xref: UMLS:C1856899 {source="Orphanet:999", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:999/e", source="OMIM:227010"} is_a: MONDO:0019589 {source="Orphanet:999"} ! syndromic genetic hearing loss property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype xsd:anyURI {source="GARD:0000407"} @@ -172150,14 +172118,14 @@ synonym: "tec" RELATED [MONDO:Lexical, OMIM:227050] synonym: "transient acquired pure red cell aplasia" EXACT [Orphanet:98871] synonym: "transient erythroblastopenia of childhood" EXACT [MONDO:Lexical, OMIM:227050] xref: GARD:0007793 {source="MONDO:equivalentTo"} -xref: ICD10CM:D60.1 {source="ORDO:98871/e", source="Orphanet:98871"} +xref: ICD10CM:D60.1 {source="Orphanet:98871/e", source="Orphanet:98871"} xref: ICD9:284.81 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536980 {source="MONDO:equivalentTo", source="ORDO:98871/e", source="Orphanet:98871"} +xref: MESH:C536980 {source="Orphanet:98871/e", source="MONDO:equivalentTo", source="Orphanet:98871"} xref: NCIT:C131683 {source="MONDO:equivalentTo"} -xref: OMIM:227050 {source="MONDO:equivalentTo", source="ORDO:98871/e", source="Orphanet:98871"} +xref: OMIM:227050 {source="Orphanet:98871/e", source="MONDO:equivalentTo", source="Orphanet:98871"} xref: Orphanet:98871 {source="MONDO:equivalentTo", source="OMIM:227050"} xref: SCTID:191255003 {source="MONDO:equivalentTo"} -xref: UMLS:C0238478 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227050", source="NCIT:C131683", source="ORDO:98871/e", source="Orphanet:98871"} +xref: UMLS:C0238478 {source="Orphanet:98871/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227050", source="NCIT:C131683", source="Orphanet:98871"} xref: UMLS:C0451688 {source="MONDO:equivalentTo"} is_a: MONDO:0020113 {source="Orphanet:98871"} ! primary acquired red cell aplasia property_value: confidence "3.533333333333334" xsd:double @@ -172174,12 +172142,12 @@ synonym: "erythroderma lethal congenital" RELATED [GARD:0002192] synonym: "erythroderma, lethal congenital" RELATED [OMIM:227090] synonym: "lethal congenital erythroderma" RELATED [GARD:0002192] xref: GARD:0002192 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:1954/attributed", source="ORDO:1954/ntbt", source="Orphanet:1954"} -xref: MESH:C535513 {source="MONDO:equivalentTo", source="Orphanet:1954", source="ORDO:1954/e"} -xref: OMIM:227090 {source="MONDO:equivalentTo", source="Orphanet:1954", source="ORDO:1954/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:1954", source="Orphanet:1954/attributed", source="Orphanet:1954/ntbt"} +xref: MESH:C535513 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"} +xref: OMIM:227090 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"} xref: Orphanet:1954 {source="MONDO:equivalentTo", source="OMIM:227090"} xref: SCTID:722391005 {source="MONDO:equivalentTo"} -xref: UMLS:C1856898 {source="NCBI:mim2gene_medline", source="OMIM:227090", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1954", source="ORDO:1954/e"} +xref: UMLS:C1856898 {source="NCBI:mim2gene_medline", source="OMIM:227090", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1954", source="Orphanet:1954/e"} is_a: MONDO:0005093 {source="Orphanet:1954", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital xsd:anyURI {source="GARD:0002192"} @@ -172205,7 +172173,7 @@ synonym: "eyebrows duplication of, with stretchable skin and syndactyly" RELATED synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [OMIM:227210] xref: GARD:0002216 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536383 {source="MONDO:equivalentTo"} -xref: OMIM:227210 {source="MONDO:equivalentTo", source="Orphanet:3172", source="ORDO:3172/e"} +xref: OMIM:227210 {source="Orphanet:3172/e", source="MONDO:equivalentTo", source="Orphanet:3172"} xref: Orphanet:3172 {source="OMIM:227210", source="MONDO:equivalentTo"} xref: UMLS:C1856896 {source="OMIM:227210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3172"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -172231,8 +172199,8 @@ synonym: "Dysmorphism multiple structural anomalies" RELATED [GARD:0005158] synonym: "Dysmorphism-multiple structural anomalies syndrome" EXACT [Orphanet:1780] synonym: "facial dysmorphism with multiple malformations" RELATED [OMIM:227255] xref: GARD:0005158 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1780", source="ORDO:1780/attributed", source="ORDO:1780/ntbt"} -xref: OMIM:227255 {source="Orphanet:1780", source="MONDO:equivalentTo", source="ORDO:1780/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1780", source="Orphanet:1780/attributed", source="Orphanet:1780/ntbt"} +xref: OMIM:227255 {source="Orphanet:1780", source="MONDO:equivalentTo", source="Orphanet:1780/e"} xref: Orphanet:1780 {source="OMIM:227255", source="MONDO:equivalentTo"} xref: UMLS:C1856892 {source="OMIM:227255", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931219 {source="Orphanet:1780", source="MONDO:equivalentTo"} @@ -172262,13 +172230,13 @@ synonym: "focal Facial dermal dysplasia, type II" RELATED [OMIM:227260] synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [OMIM:227260] synonym: "Setleis syndrome" EXACT [GARD:0000121, OMIM:227260, Orphanet:1807] xref: GARD:0000121 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:1807", source="ORDO:1807/attributed", source="ORDO:1807/ntbt"} -xref: MESH:C536385 {source="Orphanet:1807", source="ORDO:1807/e"} -xref: OMIM:227260 {source="GARD:0000121", source="Orphanet:1807", source="MONDO:equivalentTo", source="ORDO:1807/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:1807", source="Orphanet:1807/attributed", source="Orphanet:1807/ntbt"} +xref: MESH:C536385 {source="Orphanet:1807", source="Orphanet:1807/e"} +xref: OMIM:227260 {source="GARD:0000121", source="Orphanet:1807", source="MONDO:equivalentTo", source="Orphanet:1807/e"} xref: Orphanet:1807 {source="GARD:0000121", source="MONDO:equivalentTo", source="OMIM:227260"} xref: Orphanet:398166 {source="MONDO:subClassOf", source="OMIM:227260"} xref: SCTID:403771007 {source="MONDO:equivalentTo"} -xref: UMLS:C1744559 {source="GARD:0000121", source="Orphanet:1807", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:227260", source="ORDO:1807/e"} +xref: UMLS:C1744559 {source="GARD:0000121", source="Orphanet:1807", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1807/e", source="OMIM:227260"} is_a: MONDO:0018363 {source="DC-OMIM:227260", source="OMIM:227260", source="Orphanet:1807"} ! focal facial dermal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20670 {source="mim2gene_medgen"} ! TWIST2 property_value: confidence "0.440329218106996" xsd:double @@ -172282,9 +172250,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1972"} synonym: "faciocardiomelic dysplasia lethal" RELATED [GARD:0002229] synonym: "faciocardiomelic dysplasia, lethal" RELATED [OMIM:227270] xref: GARD:0002229 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1972", source="ORDO:1972/attributed", source="ORDO:1972/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1972/attributed", source="Orphanet:1972/ntbt", source="Orphanet:1972"} xref: MESH:C565578 {source="MONDO:equivalentTo"} -xref: OMIM:227270 {source="Orphanet:1972", source="ORDO:1972/e", source="MONDO:equivalentTo"} +xref: OMIM:227270 {source="Orphanet:1972", source="MONDO:equivalentTo", source="Orphanet:1972/e"} xref: Orphanet:1972 {source="MONDO:equivalentTo", source="OMIM:227270"} xref: SCTID:719400000 {source="MONDO:equivalentTo"} xref: UMLS:C1856891 {source="Orphanet:1972", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:227270"} @@ -172306,12 +172274,12 @@ synonym: "Eastman Bixler syndrome" RELATED [GARD:0002230] synonym: "Eastman-Bixler syndrome" EXACT [OMIM:227280, Orphanet:1973] synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280] xref: GARD:0002230 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1973/attributed", source="ORDO:1973/ntbt", source="Orphanet:1973"} -xref: MESH:C536388 {source="ORDO:1973/e", source="MONDO:equivalentTo", source="Orphanet:1973"} -xref: OMIM:227280 {source="ORDO:1973/e", source="MONDO:equivalentTo", source="Orphanet:1973"} +xref: ICD10CM:Q87.8 {source="Orphanet:1973", source="Orphanet:1973/attributed", source="Orphanet:1973/ntbt"} +xref: MESH:C536388 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"} +xref: OMIM:227280 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"} xref: Orphanet:1973 {source="MONDO:equivalentTo", source="OMIM:227280"} xref: SCTID:723333000 {source="MONDO:equivalentTo"} -xref: UMLS:C0795936 {source="ORDO:1973/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1973", source="OMIM:227280"} +xref: UMLS:C0795936 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1973", source="OMIM:227280", source="Orphanet:1973/e"} is_a: MONDO:0015159 {source="Orphanet:1973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019721 {source="Orphanet:1973"} ! syndromic renal or urinary tract malformation property_value: confidence "8.375" xsd:double @@ -172376,8 +172344,8 @@ synonym: "facio-digito-genital syndrome, Kuwait type" EXACT [Orphanet:1974] synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [OMIM:227330] synonym: "Kuwait type faciodigitogenital syndrome" RELATED [OMIM:227330] synonym: "Teebi-Naguib-Alawadi syndrome" EXACT [Orphanet:1974] -xref: ICD10CM:Q87.8 {source="ORDO:1974/attributed", source="ORDO:1974/ntbt", source="Orphanet:1974"} -xref: OMIM:227330 {source="MONDO:equivalentTo", source="Orphanet:1974", source="ORDO:1974/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1974", source="Orphanet:1974/attributed", source="Orphanet:1974/ntbt"} +xref: OMIM:227330 {source="MONDO:equivalentTo", source="Orphanet:1974", source="Orphanet:1974/e"} xref: Orphanet:1974 {source="OMIM:227330", source="MONDO:equivalentTo"} xref: UMLS:C1856871 {source="OMIM:227330", source="NCBI:mim2gene_medline", source="Orphanet:1974", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0006025 {source="MONDO:Redundant", source="MONDO:cjm"} ! autosomal recessive disease @@ -172411,18 +172379,18 @@ synonym: "Parahemophilia" EXACT [OMIM:227400, Orphanet:326] synonym: "Proaccelerin deficiency" EXACT [DOID:2216, Orphanet:326] xref: DOID:2216 {source="MONDO:equivalentTo"} xref: GARD:0002237 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="Orphanet:326", source="DOID:2216", source="ORDO:326/attributed", source="ORDO:326/ntbt"} -xref: MedDRA:10048930 {source="ORDO:326/e", source="Orphanet:326"} +xref: ICD10CM:D68.2 {source="Orphanet:326", source="Orphanet:326/attributed", source="Orphanet:326/ntbt", source="DOID:2216"} +xref: MedDRA:10048930 {source="Orphanet:326", source="Orphanet:326/e"} xref: MESH:D005166 {source="MONDO:equivalentTo", source="DOID:2216"} xref: NCIT:C98938 {source="MONDO:equivalentTo", source="DOID:2216"} -xref: OMIM:227400 {source="ORDO:326/e", source="Orphanet:326", source="MONDO:equivalentTo", source="DOID:2216"} +xref: OMIM:227400 {source="Orphanet:326", source="MONDO:equivalentTo", source="Orphanet:326/e", source="DOID:2216"} xref: Orphanet:326 {source="OMIM:227400", source="MONDO:equivalentTo"} xref: SCTID:191284007 {source="DOID:2216"} xref: SCTID:365157004 {source="DOID:2216"} xref: SCTID:366160003 {source="DOID:2216"} xref: SCTID:4320005 {source="DOID:2216"} xref: SCTID:88776002 {source="MONDO:equivalentTo", source="DOID:2216"} -xref: UMLS:C0015499 {source="ORDO:326/e", source="Orphanet:326", source="NCIT:C98938", source="NCBI:mim2gene_medline", source="OMIM:227400", source="MONDO:equivalentTo", source="DOID:2216"} +xref: UMLS:C0015499 {source="Orphanet:326", source="NCIT:C98938", source="NCBI:mim2gene_medline", source="OMIM:227400", source="MONDO:equivalentTo", source="Orphanet:326/e", source="DOID:2216"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease intersection_of: MONDO:0020586 ! factor V deficiency @@ -172446,11 +172414,11 @@ synonym: "factor VII deficiency" RELATED [OMIM:227500] synonym: "hypoproconvertinemia" EXACT [OMIM:227500, Orphanet:327] xref: DOID:2215 {source="MONDO:equivalentTo"} xref: GARD:0002238 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D68.2 {source="Orphanet:327", source="DOID:2215", source="ORDO:327/attributed", source="ORDO:327/ntbt"} -xref: MedDRA:10016079 {source="ORDO:327/e", source="Orphanet:327"} +xref: ICD10CM:D68.2 {source="Orphanet:327/attributed", source="Orphanet:327/ntbt", source="Orphanet:327", source="DOID:2215"} +xref: MedDRA:10016079 {source="Orphanet:327", source="Orphanet:327/e"} xref: MESH:D005168 {source="MONDO:subClassOf", source="DOID:2215"} xref: NCIT:C131631 {source="MONDO:equivalentTo"} -xref: OMIM:227500 {source="ORDO:327/e", source="Orphanet:327", source="MONDO:equivalentTo"} +xref: OMIM:227500 {source="Orphanet:327", source="MONDO:equivalentTo", source="Orphanet:327/e"} xref: Orphanet:327 {source="OMIM:227500", source="MONDO:equivalentTo"} xref: SCTID:154820003 {source="DOID:2215"} xref: SCTID:37193007 {source="MONDO:subClassOf", source="DOID:2215"} @@ -172481,11 +172449,11 @@ synonym: "Stuart-Prower Factor deficiency" RELATED [OMIM:227600] synonym: "Stuart-Prower factor deficiency" EXACT [Orphanet:328] xref: DOID:2222 {source="MONDO:equivalentTo"} xref: GARD:0006404 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D68.2 {source="Orphanet:328", source="ORDO:328/attributed", source="ORDO:328/ntbt"} +xref: ICD10CM:D68.2 {source="Orphanet:328/attributed", source="Orphanet:328/ntbt", source="Orphanet:328"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D005171 {source="MONDO:subClassOf", source="DOID:2222"} xref: NCIT:C98940 {source="MONDO:equivalentTo"} -xref: OMIM:227600 {source="ORDO:328/e", source="Orphanet:328", source="MONDO:equivalentTo"} +xref: OMIM:227600 {source="Orphanet:328", source="MONDO:equivalentTo", source="Orphanet:328/e"} xref: Orphanet:328 {source="MONDO:equivalentTo", source="OMIM:227600"} xref: SCTID:37350004 {source="https://github.com/monarch-initiative/mondo/issues/2944", source="MONDO:equivalentTo"} xref: SCTID:76642003 {source="DOID:2222"} @@ -172603,8 +172571,8 @@ synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:00 synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:0002268] synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810] xref: GARD:0002268 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:2088", source="ORDO:2088/attributed", source="ORDO:2088/ntbt"} -xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="ORDO:2088/e"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:2088", source="Orphanet:2088/attributed", source="Orphanet:2088/ntbt"} +xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="Orphanet:2088/e"} xref: Orphanet:2088 {source="GARD:0002268", source="MONDO:equivalentTo", source="OMIM:227810"} xref: SCTID:61598006 {source="MONDO:equivalentTo"} xref: UMLS:C3495427 {source="Orphanet:2088", source="NCBI:mim2gene_medline", source="OMIM:227810", source="MONDO:notFoundInDiseaseSubset"} @@ -172647,17 +172615,17 @@ synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464] synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [OMIM:228000] xref: DOID:0050464 {source="MONDO:equivalentTo"} xref: GARD:0006426 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="ORDO:333/inclusion", source="ORDO:333/ntbt", source="Orphanet:333"} +xref: ICD10CM:E75.2 {source="Orphanet:333/ntbt", source="Orphanet:333/inclusion", source="Orphanet:333"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537075 {source="ORDO:333/e", source="Orphanet:333"} -xref: MESH:D055577 {source="DOID:0050464", source="MONDO:equivalentTo", source="ORDO:333/e", source="Orphanet:333"} +xref: MESH:C537075 {source="Orphanet:333/e", source="Orphanet:333"} +xref: MESH:D055577 {source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="Orphanet:333"} xref: NCIT:C84710 {source="DOID:0050464", source="MONDO:equivalentTo"} -xref: OMIM:228000 {source="DOID:0050464", source="MONDO:equivalentTo", source="ORDO:333/e", source="Orphanet:333"} +xref: OMIM:228000 {source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="Orphanet:333"} xref: Orphanet:333 {source="MONDO:equivalentTo", source="OMIM:228000"} xref: SCTID:79935000 {source="DOID:0050464", source="MONDO:equivalentTo"} -xref: UMLS:C0268255 {source="NCIT:C84710", source="DOID:0050464", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:333/e", source="Orphanet:333"} +xref: UMLS:C0268255 {source="NCIT:C84710", source="DOID:0050464", source="Orphanet:333/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:333"} xref: UMLS:C1412573 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:228000"} -xref: UMLS:C2936785 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:333/e", source="Orphanet:333"} +xref: UMLS:C2936785 {source="Orphanet:333/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:333"} xref: UMLS:CN204335 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84710", source="indirect"} ! inherited lipid metabolism disorder is_a: MONDO:0019058 {source="Orphanet:333"} ! neurometabolic disease @@ -172677,7 +172645,7 @@ xref: OMIM:228020 {source="MONDO:equivalentTo"} xref: Orphanet:2833 {source="MONDO:subClassOf", source="OMIM:228020"} xref: SCTID:399948007 {source="MONDO:equivalentTo"} xref: UMLS:C1302740 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:228020"} -is_a: MONDO:0008492 {source="ORDO:2833/btnt"} ! stiff skin syndrome +is_a: MONDO:0008492 {source="Orphanet:2833/btnt"} ! stiff skin syndrome property_value: confidence "2.9681818181818183" xsd:double [Term] @@ -172712,13 +172680,13 @@ synonym: "FFU complex" EXACT [Orphanet:2019] synonym: "Ffu syndrome" RELATED [OMIM:228200] synonym: "PFFD" EXACT ABBREVIATION [Orphanet:2019] xref: GARD:0002286 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.8 {source="ORDO:2019/attributed", source="ORDO:2019/ntbt", source="Orphanet:2019"} -xref: MedDRA:10068448 {source="ORDO:2019/e", source="Orphanet:2019"} -xref: MESH:C537918 {source="MONDO:equivalentTo", source="ORDO:2019/e", source="Orphanet:2019"} -xref: OMIM:228200 {source="MONDO:equivalentTo", source="ORDO:2019/e", source="Orphanet:2019"} +xref: ICD10CM:Q74.8 {source="Orphanet:2019", source="Orphanet:2019/attributed", source="Orphanet:2019/ntbt"} +xref: MedDRA:10068448 {source="Orphanet:2019", source="Orphanet:2019/e"} +xref: MESH:C537918 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} +xref: OMIM:228200 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} xref: Orphanet:2019 {source="OMIM:228200", source="MONDO:equivalentTo"} xref: UMLS:C1856790 {source="OMIM:228200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -xref: UMLS:C2363814 {source="ORDO:2019/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2019"} +xref: UMLS:C2363814 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2019", source="Orphanet:2019/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: confidence "6.5" xsd:double @@ -172734,12 +172702,12 @@ synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [OMI synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250] synonym: "GWC" RELATED ABBREVIATION [GARD:0002285] xref: GARD:0002285 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.8 {source="ORDO:1986/attributed", source="ORDO:1986/ntbt", source="Orphanet:1986"} +xref: ICD10CM:Q74.8 {source="Orphanet:1986", source="Orphanet:1986/attributed", source="Orphanet:1986/ntbt"} xref: MESH:C537917 {source="MONDO:equivalentTo"} -xref: OMIM:228250 {source="MONDO:equivalentTo", source="ORDO:1986/e", source="Orphanet:1986"} +xref: OMIM:228250 {source="MONDO:equivalentTo", source="Orphanet:1986", source="Orphanet:1986/e"} xref: Orphanet:1986 {source="MONDO:equivalentTo", source="OMIM:228250"} xref: SCTID:716006003 {source="MONDO:equivalentTo"} -xref: UMLS:C1856789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1986/e", source="Orphanet:1986", source="OMIM:228250"} +xref: UMLS:C1856789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1986", source="OMIM:228250", source="Orphanet:1986/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation @@ -172765,10 +172733,10 @@ synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO: synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300] xref: DOID:0090091 {source="MONDO:equivalentTo"} xref: GARD:0010127 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q56.1 {source="Orphanet:325448", source="ORDO:325448/attributed", source="ORDO:325448/ntbt", source="DOID:0090091"} +xref: ICD10CM:Q56.1 {source="Orphanet:325448/attributed", source="Orphanet:325448/ntbt", source="Orphanet:325448", source="DOID:0090091"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537919 {source="MONDO:equivalentTo"} -xref: OMIM:228300 {source="ORDO:325448/e", source="Orphanet:325448", source="MONDO:equivalentTo", source="DOID:0090091"} +xref: OMIM:228300 {source="Orphanet:325448", source="MONDO:equivalentTo", source="Orphanet:325448/e", source="DOID:0090091"} xref: Orphanet:325448 {source="OMIM:228300", source="MONDO:equivalentTo", source="DOID:0090091"} xref: SCTID:8829008 {source="MONDO:equivalentTo"} xref: UMLS:C0271582 {source="OMIM:228300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -172789,8 +172757,8 @@ synonym: "endemic cretinism" RELATED DEPRECATED [OMIM:228355] synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical, OMIM:228355] synonym: "FIDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228355] xref: GARD:0002304 {source="MONDO:equivalentTo"} -xref: ICD10CM:P72.2 {source="ORDO:1910/ntbt", source="Orphanet:1910"} -xref: OMIM:228355 {source="MONDO:equivalentTo", source="Orphanet:1910", source="ORDO:1910/e"} +xref: ICD10CM:P72.2 {source="Orphanet:1910", source="Orphanet:1910/ntbt"} +xref: OMIM:228355 {source="MONDO:equivalentTo", source="Orphanet:1910", source="Orphanet:1910/e"} xref: Orphanet:1910 {source="OMIM:228355", source="MONDO:equivalentTo"} xref: SCTID:718228001 {source="MONDO:equivalentTo"} xref: UMLS:C0342200 {source="OMIM:228355", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1910"} @@ -172862,9 +172830,9 @@ synonym: "fibromatosis, gingival, with distinctive facies" RELATED [OMIM:228560] synonym: "gingival fibromatosis with craniofacial dysmorphism" RELATED [GARD:0010528] synonym: "gingival fibromatosis with distinctive facies" RELATED [GARD:0010528] xref: GARD:0010528 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2025", source="ORDO:2025/attributed", source="ORDO:2025/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2025", source="Orphanet:2025/attributed", source="Orphanet:2025/ntbt"} xref: MESH:C565567 {source="MONDO:equivalentTo"} -xref: OMIM:228560 {source="Orphanet:2025", source="ORDO:2025/e", source="MONDO:equivalentTo", source="GARD:0010528"} +xref: OMIM:228560 {source="Orphanet:2025", source="MONDO:equivalentTo", source="Orphanet:2025/e", source="GARD:0010528"} xref: Orphanet:2025 {source="MONDO:equivalentTo", source="OMIM:228560"} xref: UMLS:C1856761 {source="Orphanet:2025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010528", source="OMIM:228560"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -172911,7 +172879,7 @@ xref: Orphanet:49041 {source="MONDO:subClassOf", source="OMIM:228800"} xref: SCTID:111210001 {source="MONDO:equivalentTo"} xref: UMLS:C0494949 {source="NCBI:mim2gene_medline", source="OMIM:228800", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0018848 {source="MESH:C537375", source="ORDO:49041/btnt"} ! IgG4-related retroperitoneal fibrosis +is_a: MONDO:0018848 {source="MESH:C537375", source="Orphanet:49041/btnt"} ! IgG4-related retroperitoneal fibrosis property_value: confidence "28.000000000000053" xsd:double [Term] @@ -172925,14 +172893,14 @@ synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [Orphanet:2639 synonym: "fibular hypoplasia and complex brachydactyly" EXACT [OMIM:228900] xref: DOID:0050790 {source="MONDO:equivalentTo"} xref: GARD:0009879 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="ORDO:2639/attributed", source="ORDO:2639/ntbt", source="Orphanet:2639"} +xref: ICD10CM:Q73.8 {source="Orphanet:2639/attributed", source="Orphanet:2639/ntbt", source="Orphanet:2639"} xref: KEGG:H00467 {source="MONDO:relatedTo", source="DOID:0050790"} xref: MESH:C537931 {source="MONDO:equivalentTo"} -xref: OMIM:228900 {source="MONDO:equivalentTo", source="ORDO:2639/e", source="Orphanet:2639", source="DOID:0050790"} -xref: OMIM:609441 {source="MONDO:superClassOf", source="ORDO:2639/w", source="MONDO:directSiblingOf", source="Orphanet:2639"} +xref: OMIM:228900 {source="Orphanet:2639/e", source="MONDO:equivalentTo", source="Orphanet:2639", source="DOID:0050790"} +xref: OMIM:609441 {source="Orphanet:2639/w", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:2639"} xref: Orphanet:2639 {source="MONDO:equivalentTo", source="OMIM:228900"} xref: SCTID:715474004 {source="MONDO:equivalentTo"} -xref: UMLS:C1856738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:228900", source="ORDO:2639/e", source="Orphanet:2639"} +xref: UMLS:C1856738 {source="Orphanet:2639/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:228900", source="Orphanet:2639"} is_a: MONDO:0006025 {source="DOID:0050790", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -172957,12 +172925,12 @@ synonym: "Fuhrmann syndrome" EXACT [OMIM:228930] synonym: "Fuhrmann-Rieger-de Sousa syndrome" EXACT [Orphanet:2854] xref: DOID:0090067 {source="MONDO:equivalentTo"} xref: GARD:0002410 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="DOID:0090067", source="ORDO:2854/attributed", source="ORDO:2854/ntbt", source="Orphanet:2854"} -xref: MESH:C538189 {source="MONDO:equivalentTo", source="Orphanet:2854", source="ORDO:2854/e"} -xref: OMIM:228930 {source="DOID:0090067", source="MONDO:equivalentTo", source="Orphanet:2854", source="ORDO:2854/e"} +xref: ICD10CM:Q74.8 {source="DOID:0090067", source="Orphanet:2854", source="Orphanet:2854/attributed", source="Orphanet:2854/ntbt"} +xref: MESH:C538189 {source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} +xref: OMIM:228930 {source="DOID:0090067", source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} xref: Orphanet:2854 {source="DOID:0090067", source="OMIM:228930", source="MONDO:equivalentTo"} xref: SCTID:721296004 {source="MONDO:equivalentTo"} -xref: UMLS:C1856728 {source="OMIM:228930", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2854", source="ORDO:2854/e"} +xref: UMLS:C1856728 {source="OMIM:228930", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"} is_a: MONDO:0015335 {source="Orphanet:2854"} ! orofacial clefting syndrome is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation @@ -172980,12 +172948,12 @@ synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [O synonym: "Saito Kuba Tsuruta syndrome" RELATED [GARD:0000320] synonym: "Saito-Kuba-Tsuruta syndrome" EXACT [Orphanet:2256] xref: GARD:0000320 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2256", source="ORDO:2256/attributed", source="ORDO:2256/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2256", source="Orphanet:2256/attributed", source="Orphanet:2256/ntbt"} xref: MESH:C537226 {source="MONDO:equivalentTo"} -xref: OMIM:228940 {source="Orphanet:2256", source="ORDO:2256/e", source="MONDO:equivalentTo"} +xref: OMIM:228940 {source="Orphanet:2256", source="MONDO:equivalentTo", source="Orphanet:2256/e"} xref: Orphanet:2256 {source="OMIM:228940", source="MONDO:equivalentTo"} xref: SCTID:716094008 {source="MONDO:equivalentTo"} -xref: UMLS:C1856727 {source="Orphanet:2256", source="ORDO:2256/e", source="NCBI:mim2gene_medline", source="OMIM:228940", source="MONDO:equivalentTo"} +xref: UMLS:C1856727 {source="Orphanet:2256", source="NCBI:mim2gene_medline", source="OMIM:228940", source="MONDO:equivalentTo", source="Orphanet:2256/e"} is_a: MONDO:0015161 {source="Orphanet:2256", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019721 {source="Orphanet:2256"} ! syndromic renal or urinary tract malformation is_a: MONDO:0043008 {source="Orphanet:2256"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -173015,11 +172983,11 @@ synonym: "Williams trait" RELATED [OMIM:228960] synonym: "Williams trait, included" RELATED [MESH:C537060] xref: DOID:0111676 {source="MONDO:equivalentTo"} xref: GARD:0002684 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.8 {source="ORDO:483/attributed", source="ORDO:483/ntbt", source="Orphanet:483"} +xref: ICD10CM:D68.8 {source="Orphanet:483", source="Orphanet:483/attributed", source="Orphanet:483/ntbt"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537060 {source="MONDO:equivalentTo"} xref: NCIT:C98946 {source="MONDO:equivalentTo"} -xref: OMIM:228960 {source="GARD:0002684", source="MONDO:equivalentTo", source="ORDO:483/e", source="Orphanet:483"} +xref: OMIM:228960 {source="GARD:0002684", source="Orphanet:483/e", source="MONDO:equivalentTo", source="Orphanet:483"} xref: Orphanet:483 {source="GARD:0002684", source="OMIM:228960", source="MONDO:equivalentTo"} xref: SCTID:27312002 {source="MONDO:equivalentTo"} xref: UMLS:C0272340 {source="NCIT:C98946", source="OMIM:228960", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:483"} @@ -173044,9 +173012,9 @@ synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical, OMIM:228980] synonym: "fleck retina, familial benign" EXACT [OMIM:228980, OMIM:genemap2] synonym: "FRFB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228980] xref: DOID:0111677 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="ORDO:363989/attributed", source="ORDO:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"} +xref: ICD10CM:H35.5 {source="Orphanet:363989/attributed", source="Orphanet:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"} xref: MESH:C565564 {source="MONDO:equivalentTo"} -xref: OMIM:228980 {source="MONDO:equivalentTo", source="ORDO:363989/e", source="Orphanet:363989"} +xref: OMIM:228980 {source="Orphanet:363989/e", source="MONDO:equivalentTo", source="Orphanet:363989"} xref: Orphanet:363989 {source="OMIM:228980", source="MONDO:equivalentTo"} xref: UMLS:C1856718 {source="OMIM:228980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:363989"} is_a: MONDO:0019118 {source="Orphanet:363989"} ! inherited retinal dystrophy @@ -173060,9 +173028,9 @@ name: Kandori fleck retina def: "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." [Orphanet:99179] subset: ordo_malformation_syndrome {source="Orphanet:99179"} synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990] -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:99179/attributed", source="ORDO:99179/ntbt", source="Orphanet:99179"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99179/attributed", source="Orphanet:99179/ntbt", source="Orphanet:99179"} xref: MESH:C562701 {source="MONDO:equivalentTo"} -xref: OMIM:228990 {source="MONDO:equivalentTo", source="ORDO:99179/e", source="Orphanet:99179"} +xref: OMIM:228990 {source="Orphanet:99179/e", source="MONDO:equivalentTo", source="Orphanet:99179"} xref: Orphanet:99179 {source="MONDO:equivalentTo", source="OMIM:228990"} xref: SCTID:765191009 {source="MONDO:equivalentTo"} xref: UMLS:C0271257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:228990", source="Orphanet:99179"} @@ -173104,9 +173072,9 @@ synonym: "folate malabsorption, hereditary" RELATED [OMIM:229050] synonym: "folic acid transport defect" RELATED [GARD:0012983] xref: DOID:0111678 {source="MONDO:equivalentTo"} xref: GARD:0012983 {source="MONDO:equivalentTo"} -xref: ICD10CM:D52.8 {source="Orphanet:90045", source="ORDO:90045/attributed", source="ORDO:90045/ntbt"} +xref: ICD10CM:D52.8 {source="Orphanet:90045", source="Orphanet:90045/attributed", source="Orphanet:90045/ntbt"} xref: MESH:C562799 {source="MONDO:equivalentTo"} -xref: OMIM:229050 {source="ORDO:90045/e", source="MONDO:equivalentTo", source="Orphanet:90045"} +xref: OMIM:229050 {source="MONDO:equivalentTo", source="Orphanet:90045", source="Orphanet:90045/e"} xref: Orphanet:90045 {source="MONDO:equivalentTo", source="OMIM:229050"} xref: SCTID:62578003 {source="MONDO:equivalentTo"} xref: UMLS:C0342705 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90045", source="OMIM:229050"} @@ -173135,13 +173103,13 @@ synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088] synonym: "isolated FSH deficiency" EXACT [Orphanet:52901] xref: DOID:0090088 {source="MONDO:equivalentTo"} xref: GARD:0010128 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E23.6 {source="ORDO:52901/attributed", source="ORDO:52901/ntbt", source="DOID:0090088", source="Orphanet:52901"} -xref: MESH:C537070 {source="MONDO:equivalentTo", source="ORDO:52901/e", source="Orphanet:52901"} -xref: OMIM:229070 {source="DOID:0090088", source="MONDO:equivalentTo", source="ORDO:52901/e", source="Orphanet:52901"} +xref: ICD10CM:E23.6 {source="DOID:0090088", source="Orphanet:52901", source="Orphanet:52901/attributed", source="Orphanet:52901/ntbt"} +xref: MESH:C537070 {source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"} +xref: OMIM:229070 {source="DOID:0090088", source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"} xref: Orphanet:52901 {source="DOID:0090088", source="MONDO:equivalentTo", source="OMIM:229070"} xref: SCTID:758664007 {source="MONDO:equivalentTo"} xref: UMLS:C0342386 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52901"} -xref: UMLS:C1856716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:229070", source="ORDO:52901/e", source="Orphanet:52901"} +xref: UMLS:C1856716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:229070", source="Orphanet:52901", source="Orphanet:52901/e"} is_a: MONDO:0018555 {source="DOID:0090088", source="MONDO:Redundant", source="OMIM:229070"} ! hypogonadotropic hypogonadism intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3964 ! FSHB @@ -173165,10 +173133,10 @@ synonym: "FTCD deficiency" EXACT [Orphanet:51208] synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphanet:51208] xref: DOID:0111679 {source="MONDO:equivalentTo"} xref: GARD:0009279 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E70.8 {source="ORDO:51208/attributed", source="ORDO:51208/ntbt", source="Orphanet:51208"} +xref: ICD10CM:E70.8 {source="Orphanet:51208/attributed", source="Orphanet:51208/ntbt", source="Orphanet:51208"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537425 {source="MONDO:equivalentTo"} -xref: OMIM:229100 {source="MONDO:equivalentTo", source="ORDO:51208/e", source="Orphanet:51208"} +xref: OMIM:229100 {source="Orphanet:51208/e", source="MONDO:equivalentTo", source="Orphanet:51208"} xref: Orphanet:51208 {source="MONDO:equivalentTo", source="OMIM:229100"} xref: SCTID:59761008 {source="MONDO:equivalentTo"} xref: UMLS:C0268609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:51208", source="OMIM:229100"} @@ -173192,12 +173160,12 @@ synonym: "intellectual disability, deafness, skeletal abnormalities, coarse face synonym: "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [OMIM:229120] synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED DEPRECATED [OMIM:229120] xref: GARD:0000064 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3219/attributed", source="ORDO:3219/ntbt", source="Orphanet:3219"} -xref: MESH:C537270 {source="MONDO:equivalentTo", source="Orphanet:3219", source="ORDO:3219/e"} -xref: OMIM:229120 {source="MONDO:equivalentTo", source="Orphanet:3219", source="ORDO:3219/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3219", source="Orphanet:3219/attributed", source="Orphanet:3219/ntbt"} +xref: MESH:C537270 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"} +xref: OMIM:229120 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"} xref: Orphanet:3219 {source="MONDO:equivalentTo", source="OMIM:229120"} xref: SCTID:720957007 {source="MONDO:equivalentTo"} -xref: UMLS:C0795944 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3219", source="ORDO:3219/e", source="OMIM:229120"} +xref: UMLS:C0795944 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3219", source="OMIM:229120", source="Orphanet:3219/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3219", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:3219"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019589 {source="Orphanet:3219"} ! syndromic genetic hearing loss @@ -173224,10 +173192,10 @@ synonym: "kyphoscoliosis type" EXACT [DOID:14775] synonym: "type VIB Ehlers-Danlos syndrome" EXACT [DOID:14775] xref: DOID:14775 {source="MONDO:equivalentTo"} xref: GARD:0001019 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:90354/attributed", source="ORDO:90354/ntbt", source="Orphanet:90354"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:90354", source="Orphanet:90354/attributed", source="Orphanet:90354/ntbt"} xref: MESH:C536198 {source="DOID:14775", source="MONDO:directSiblingOf"} -xref: OMIM:229200 {source="ORDO:90354/e", source="Orphanet:90354", source="MONDO:superClassOf", source="DOID:14775"} -xref: OMIM:614170 {source="ORDO:90354/btnt", source="Orphanet:90354", source="MONDO:superClassOf", source="DOID:14775"} +xref: OMIM:229200 {source="Orphanet:90354", source="MONDO:superClassOf", source="DOID:14775", source="Orphanet:90354/e"} +xref: OMIM:614170 {source="Orphanet:90354", source="MONDO:superClassOf", source="DOID:14775", source="Orphanet:90354/btnt"} xref: OMIMPS:229200 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:90354 {source="OMIM:229200", source="MONDO:equivalentTo"} xref: SCTID:25606004 {source="DOID:14775"} @@ -173296,13 +173264,13 @@ synonym: "Frontofacionasal dysostosis" RELATED [OMIM:229400] synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400] synonym: "Gollop syndrome" EXACT [Orphanet:1791] xref: GARD:0002390 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.8 {source="Orphanet:1791", source="ORDO:1791/attributed", source="ORDO:1791/ntbt"} +xref: ICD10CM:Q75.8 {source="Orphanet:1791", source="Orphanet:1791/attributed", source="Orphanet:1791/ntbt"} xref: MESH:C538063 {source="MONDO:equivalentTo"} -xref: OMIM:229400 {source="Orphanet:1791", source="MONDO:equivalentTo", source="ORDO:1791/e"} +xref: OMIM:229400 {source="Orphanet:1791", source="MONDO:equivalentTo", source="Orphanet:1791/e"} xref: Orphanet:1791 {source="OMIM:229400", source="MONDO:equivalentTo"} xref: SCTID:716022002 {source="MONDO:equivalentTo"} xref: UMLS:C1856687 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931720 {source="Orphanet:1791", source="OMIM:229400", source="MONDO:equivalentTo", source="ORDO:1791/e"} +xref: UMLS:C2931720 {source="Orphanet:1791", source="OMIM:229400", source="MONDO:equivalentTo", source="Orphanet:1791/e"} is_a: MONDO:0015161 {source="Orphanet:1791", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:1791"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015412 {source="Orphanet:1791"} ! median facial cleft @@ -173341,13 +173309,13 @@ synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [Orphanet:4 synonym: "hereditary fructosemia" EXACT [Orphanet:469] xref: DOID:9869 {source="MONDO:equivalentTo"} xref: GARD:0006622 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.1 {source="Orphanet:469", source="ORDO:469/inclusion", source="ORDO:469/ntbt"} +xref: ICD10CM:E74.1 {source="Orphanet:469/inclusion", source="Orphanet:469", source="Orphanet:469/ntbt"} xref: ICD10CM:E74.12 {source="DOID:9869", source="MONDO:equivalentTo"} xref: ICD9:271.2 {source="DOID:9869"} -xref: MedDRA:10019878 {source="ORDO:469/e", source="Orphanet:469"} -xref: MESH:D005633 {source="ORDO:469/e", source="Orphanet:469", source="DOID:9869"} +xref: MedDRA:10019878 {source="Orphanet:469", source="Orphanet:469/e"} +xref: MESH:D005633 {source="Orphanet:469", source="DOID:9869", source="Orphanet:469/e"} xref: NCIT:C84720 {source="DOID:9869", source="MONDO:equivalentTo"} -xref: OMIM:229600 {source="ORDO:469/e", source="Orphanet:469", source="MONDO:equivalentTo"} +xref: OMIM:229600 {source="Orphanet:469", source="MONDO:equivalentTo", source="Orphanet:469/e"} xref: Orphanet:469 {source="OMIM:229600", source="MONDO:equivalentTo"} xref: SCTID:20052008 {source="DOID:9869", source="MONDO:equivalentTo"} xref: SCTID:20290005 {source="DOID:9869"} @@ -173388,14 +173356,14 @@ synonym: "fructose-1,6-bisphosphatase deficiency" EXACT CLINGEN_PREFERRED [MONDO synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204] xref: DOID:5204 {source="MONDO:equivalentTo"} xref: GARD:0002400 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.1 {source="Orphanet:348", source="ORDO:348/attributed", source="ORDO:348/ntbt"} +xref: ICD10CM:E74.1 {source="Orphanet:348", source="Orphanet:348/attributed", source="Orphanet:348/ntbt"} xref: ICD10CM:E74.19 {source="DOID:5204"} xref: MESH:D015319 {source="DOID:5204"} xref: NCIT:C128119 {source="MONDO:equivalentTo"} -xref: OMIM:229700 {source="ORDO:348/e", source="Orphanet:348", source="DOID:5204", source="MONDO:equivalentTo"} +xref: OMIM:229700 {source="Orphanet:348", source="DOID:5204", source="MONDO:equivalentTo", source="Orphanet:348/e"} xref: Orphanet:348 {source="OMIM:229700", source="MONDO:equivalentTo"} xref: SCTID:28183005 {source="DOID:5204", source="MONDO:equivalentTo"} -xref: UMLS:C0016756 {source="ORDO:348/e", source="Orphanet:348", source="OMIM:229700", source="DOID:5204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C128119"} +xref: UMLS:C0016756 {source="Orphanet:348", source="OMIM:229700", source="DOID:5204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:348/e", source="NCIT:C128119"} is_a: MONDO:0017689 {source="Orphanet:348", source="linkedlifedata"} ! disorder of fructose metabolism is_a: MONDO:0019052 {source="DOID:5204/inferred", source="MONDO:Redundant", source="NCIT:C128119", source="Orphanet:348/inferred", source="linkedlifedata"} ! inborn errors of metabolism is_a: MONDO:0019225 {source="Orphanet:348"} ! gluconeogenesis disorder @@ -173414,11 +173382,11 @@ synonym: "fructosuria, essential" EXACT [OMIM:229800, OMIM:genemap2] synonym: "hepatic fructokinase deficiency" RELATED [OMIM:229800] synonym: "ketohexokinase deficiency" EXACT [OMIM:229800, Orphanet:2056] xref: DOID:0111680 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.1 {source="Orphanet:2056", source="ORDO:2056/attributed", source="ORDO:2056/ntbt"} +xref: ICD10CM:E74.1 {source="Orphanet:2056", source="Orphanet:2056/attributed", source="Orphanet:2056/ntbt"} xref: ICD10CM:E74.11 {source="MONDO:equivalentTo"} -xref: MedDRA:10015487 {source="Orphanet:2056", source="ORDO:2056/e"} -xref: MESH:C538068 {source="Orphanet:2056", source="ORDO:2056/e", source="MONDO:equivalentTo"} -xref: OMIM:229800 {source="Orphanet:2056", source="ORDO:2056/e", source="MONDO:equivalentTo"} +xref: MedDRA:10015487 {source="Orphanet:2056", source="Orphanet:2056/e"} +xref: MESH:C538068 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"} +xref: OMIM:229800 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"} xref: Orphanet:2056 {source="MONDO:equivalentTo", source="OMIM:229800"} xref: SCTID:40278002 {source="MONDO:equivalentTo"} xref: UMLS:C0268160 {source="Orphanet:2056", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -173440,14 +173408,14 @@ synonym: "FRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229850] synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850] synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699] xref: GARD:0003699 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2059", source="ORDO:2059/attributed", source="ORDO:2059/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2059/attributed", source="Orphanet:2059/ntbt", source="Orphanet:2059"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538070 {source="ORDO:2059/e", source="Orphanet:2059", source="MONDO:equivalentTo"} +xref: MESH:C538070 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"} xref: NCIT:C98932 {source="MONDO:equivalentTo"} -xref: OMIM:229850 {source="ORDO:2059/e", source="Orphanet:2059", source="MONDO:equivalentTo"} +xref: OMIM:229850 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"} xref: Orphanet:2059 {source="OMIM:229850", source="MONDO:equivalentTo"} xref: SCTID:702432006 {source="MONDO:equivalentTo"} -xref: UMLS:C0220730 {source="OMIM:229850", source="ORDO:2059/e", source="NCBI:mim2gene_medline", source="Orphanet:2059", source="MONDO:equivalentTo", source="NCIT:C98932"} +xref: UMLS:C0220730 {source="OMIM:229850", source="NCBI:mim2gene_medline", source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e", source="NCIT:C98932"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2059", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98932", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2059"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -173469,15 +173437,15 @@ synonym: "fucosidosis" EXACT [OMIM:230000] synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" RELATED [GARD:0006473] xref: DOID:14500 {source="MONDO:equivalentTo"} xref: GARD:0006473 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.1 {source="Orphanet:349", source="ORDO:349/inclusion", source="ORDO:349/ntbt", source="DOID:14500"} +xref: ICD10CM:E77.1 {source="Orphanet:349/inclusion", source="Orphanet:349/ntbt", source="Orphanet:349", source="DOID:14500"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D005645 {source="ORDO:349/e", source="Orphanet:349", source="MONDO:equivalentTo", source="DOID:14500"} +xref: MESH:D005645 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"} xref: NCIT:C61274 {source="MONDO:equivalentTo", source="DOID:14500"} -xref: OMIM:230000 {source="ORDO:349/e", source="Orphanet:349", source="MONDO:equivalentTo", source="DOID:14500"} +xref: OMIM:230000 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"} xref: Orphanet:349 {source="MONDO:equivalentTo", source="OMIM:230000"} xref: SCTID:190937009 {source="DOID:14500"} xref: SCTID:64716005 {source="MONDO:equivalentTo", source="DOID:14500"} -xref: UMLS:C0016788 {source="ORDO:349/e", source="NCBI:mim2gene_medline", source="Orphanet:349", source="MONDO:equivalentTo", source="OMIM:230000", source="NCIT:C61274", source="DOID:14500"} +xref: UMLS:C0016788 {source="NCBI:mim2gene_medline", source="Orphanet:349", source="MONDO:equivalentTo", source="OMIM:230000", source="NCIT:C61274", source="Orphanet:349/e", source="DOID:14500"} is_a: MONDO:0002561 {source="DOID:14500", source="MESH:D005645/inferred", source="MONDO:Redundant", source="NCIT:C61274", source="Orphanet:349/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis @@ -173505,18 +173473,18 @@ synonym: "GALK-D" EXACT [Orphanet:79237] synonym: "hereditary galactokinase deficiency" RELATED [GARD:0002422] xref: DOID:14695 {source="MONDO:equivalentTo"} xref: GARD:0002422 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.2 {source="Orphanet:79237", source="ORDO:79237/attributed", source="ORDO:79237/ntbt"} +xref: ICD10CM:E74.2 {source="Orphanet:79237", source="Orphanet:79237/attributed", source="Orphanet:79237/ntbt"} xref: ICD10CM:E74.29 {source="DOID:14695"} -xref: MESH:C535999 {source="Orphanet:79237", source="ORDO:79237/e"} +xref: MESH:C535999 {source="Orphanet:79237", source="Orphanet:79237/e"} xref: MESH:D005693 {source="MONDO:subClassOf", source="DOID:14695"} xref: NCIT:C114767 {source="MONDO:equivalentTo", source="DOID:14695"} -xref: OMIM:230200 {source="Orphanet:79237", source="MONDO:equivalentTo", source="DOID:14695", source="ORDO:79237/e"} +xref: OMIM:230200 {source="Orphanet:79237", source="MONDO:equivalentTo", source="Orphanet:79237/e", source="DOID:14695"} xref: Orphanet:352 {source="MONDO:subClassOf", source="OMIM:230200"} xref: Orphanet:79237 {source="MONDO:equivalentTo", source="OMIM:230200"} xref: SCTID:124302001 {source="MONDO:equivalentTo", source="DOID:14695"} xref: SCTID:18612007 {source="DOID:14695"} -xref: UMLS:C0268155 {source="Orphanet:79237", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:14695", source="OMIM:230200", source="ORDO:79237/e", source="NCIT:C114767"} -xref: UMLS:C0751158 {source="Orphanet:79237", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79237/e"} +xref: UMLS:C0268155 {source="Orphanet:79237", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79237/e", source="DOID:14695", source="OMIM:230200", source="NCIT:C114767"} +xref: UMLS:C0751158 {source="Orphanet:79237", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79237/e"} is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="Orphanet:79237"} ! galactosemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4118 {source="mim2gene_medgen"} ! GALK1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -173557,8 +173525,8 @@ synonym: "UDP-galactose-4-epimerase deficiency" EXACT [OMIM:230350, Orphanet:792 synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:79238] xref: DOID:0111458 {source="MONDO:equivalentTo"} xref: GARD:0005392 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.2 {source="Orphanet:79238", source="ORDO:79238/attributed", source="ORDO:79238/ntbt"} -xref: OMIM:230350 {source="Orphanet:79238", source="MONDO:equivalentTo", source="ORDO:79238/e"} +xref: ICD10CM:E74.2 {source="Orphanet:79238", source="Orphanet:79238/attributed", source="Orphanet:79238/ntbt"} +xref: OMIM:230350 {source="Orphanet:79238", source="MONDO:equivalentTo", source="Orphanet:79238/e"} xref: Orphanet:352 {source="MONDO:subClassOf", source="OMIM:230350"} xref: Orphanet:79238 {source="MONDO:equivalentTo", source="OMIM:230350"} xref: SCTID:8849004 {source="MONDO:equivalentTo"} @@ -173586,12 +173554,12 @@ synonym: "galactosemia, Duarte variant" RELATED [OMIM:230400] synonym: "GALT deficiency" EXACT [Orphanet:79239] synonym: "Galt deficiency" RELATED [OMIM:230400] xref: DOID:0111459 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.2 {source="Orphanet:79239", source="ORDO:79239/attributed", source="ORDO:79239/ntbt"} -xref: OMIM:230400 {source="Orphanet:79239", source="MONDO:equivalentTo", source="ORDO:79239/e"} +xref: ICD10CM:E74.2 {source="Orphanet:79239/attributed", source="Orphanet:79239/ntbt", source="Orphanet:79239"} +xref: OMIM:230400 {source="Orphanet:79239", source="MONDO:equivalentTo", source="Orphanet:79239/e"} xref: Orphanet:352 {source="MONDO:subClassOf", source="OMIM:230400"} xref: Orphanet:79239 {source="MONDO:equivalentTo", source="OMIM:230400"} xref: SCTID:10899004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268151 {source="Orphanet:79239", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:230400", source="ORDO:79239/e"} +xref: UMLS:C0268151 {source="Orphanet:79239", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79239/e", source="OMIM:230400"} xref: UMLS:C3278146 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:230400"} is_a: MONDO:0005066 {source="Orphanet:79239", source="Orphanet:79239/inferred"} ! metabolic disease is_a: MONDO:0018116 {source="Orphanet:79239"} ! galactosemia @@ -173612,10 +173580,10 @@ synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patte synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [Orphanet:33574] synonym: "rare inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111681 {source="MONDO:equivalentTo"} -xref: ICD10CM:D55.1 {source="ORDO:33574/attributed", source="ORDO:33574/ntbt", source="Orphanet:33574"} +xref: ICD10CM:D55.1 {source="Orphanet:33574/attributed", source="Orphanet:33574/ntbt", source="Orphanet:33574"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565557 {source="MONDO:equivalentTo"} -xref: OMIM:230450 {source="MONDO:equivalentTo", source="ORDO:33574/e", source="Orphanet:33574"} +xref: OMIM:230450 {source="Orphanet:33574/e", source="MONDO:equivalentTo", source="Orphanet:33574"} xref: Orphanet:33574 {source="MONDO:equivalentTo", source="OMIM:230450"} xref: SCTID:36799008 {source="MONDO:equivalentTo"} xref: UMLS:C1856603 {source="NCBI:mim2gene_medline", source="OMIM:230450", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:33574"} @@ -173649,8 +173617,8 @@ synonym: "infantile GM1 gangliosidosis" EXACT [Orphanet:79255] synonym: "Norman-Landing disease" EXACT [Orphanet:79255] xref: DOID:0080502 {source="MONDO:equivalentTo"} xref: GARD:0006479 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.1 {source="ORDO:79255/attributed", source="ORDO:79255/ntbt", source="Orphanet:79255"} -xref: OMIM:230500 {source="GARD:0006479", source="MONDO:equivalentTo", source="ORDO:79255/e", source="Orphanet:79255"} +xref: ICD10CM:E75.1 {source="Orphanet:79255/attributed", source="Orphanet:79255/ntbt", source="Orphanet:79255"} +xref: OMIM:230500 {source="GARD:0006479", source="Orphanet:79255/e", source="MONDO:equivalentTo", source="Orphanet:79255"} xref: Orphanet:354 {source="MONDO:subClassOf", source="OMIM:230500"} xref: Orphanet:79255 {source="GARD:0006479", source="MONDO:equivalentTo", source="OMIM:230500"} xref: SCTID:238026007 {source="MONDO:equivalentTo"} @@ -173680,8 +173648,8 @@ synonym: "juvenile GM1 gangliosidosis" EXACT [Orphanet:79256] synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256] xref: DOID:0080501 {source="MONDO:equivalentTo"} xref: GARD:0010126 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.1 {source="ORDO:79256/attributed", source="ORDO:79256/ntbt", source="Orphanet:79256"} -xref: OMIM:230600 {source="MONDO:equivalentTo", source="ORDO:79256/e", source="Orphanet:79256"} +xref: ICD10CM:E75.1 {source="Orphanet:79256/attributed", source="Orphanet:79256/ntbt", source="Orphanet:79256"} +xref: OMIM:230600 {source="Orphanet:79256/e", source="MONDO:equivalentTo", source="Orphanet:79256"} xref: Orphanet:354 {source="MONDO:subClassOf", source="OMIM:230600"} xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"} xref: SCTID:18756002 {source="MONDO:equivalentTo"} @@ -173710,8 +173678,8 @@ synonym: "GM1-gangliosidosis, type 3" RELATED [OMIM:230650] synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650] xref: DOID:0080489 {source="MONDO:equivalentTo"} xref: GARD:0002431 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.1 {source="ORDO:79257/attributed", source="ORDO:79257/ntbt", source="Orphanet:79257"} -xref: OMIM:230650 {source="MONDO:equivalentTo", source="ORDO:79257/e", source="Orphanet:79257"} +xref: ICD10CM:E75.1 {source="Orphanet:79257/attributed", source="Orphanet:79257/ntbt", source="Orphanet:79257"} +xref: OMIM:230650 {source="Orphanet:79257/e", source="MONDO:equivalentTo", source="Orphanet:79257"} xref: Orphanet:354 {source="MONDO:subClassOf", source="OMIM:230650"} xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"} xref: SCTID:238027003 {source="MONDO:equivalentTo"} @@ -173732,11 +173700,11 @@ synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [O synonym: "Growth retardation, alopecia, pseudoanodontia and optic atrophy" RELATED [GARD:0000400] synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [OMIM:230740] xref: GARD:0000400 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2067", source="ORDO:2067/attributed", source="ORDO:2067/ntbt"} -xref: OMIM:230740 {source="Orphanet:2067", source="ORDO:2067/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2067", source="Orphanet:2067/attributed", source="Orphanet:2067/ntbt"} +xref: OMIM:230740 {source="Orphanet:2067", source="MONDO:equivalentTo", source="Orphanet:2067/e"} xref: Orphanet:2067 {source="MONDO:equivalentTo", source="OMIM:230740"} xref: SCTID:721843003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406723 {source="Orphanet:2067", source="ORDO:2067/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:230740"} +xref: UMLS:C0406723 {source="Orphanet:2067", source="NCBI:mim2gene_medline", source="Orphanet:2067/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:230740"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2067", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2067"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018609 {source="Orphanet:2067"} ! syndromic hereditary optic neuropathy @@ -173760,16 +173728,16 @@ synonym: "laparoschisis" EXACT [Orphanet:2368] xref: DOID:11044 {source="EFO:1000949", source="MONDO:equivalentTo"} xref: EFO:1000949 {source="MONDO:equivalentTo"} xref: GARD:0008661 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.3 {source="Orphanet:2368", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044"} +xref: ICD10CM:Q79.3 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: ICD9:756.73 {source="EFO:1000949", source="DOID:11044"} -xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="ORDO:2368/e"} -xref: MESH:D020139 {source="EFO:1000949", source="Orphanet:2368", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044"} +xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="Orphanet:2368/e"} +xref: MESH:D020139 {source="EFO:1000949", source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: NCIT:C84725 {source="EFO:1000949", source="MONDO:equivalentTo", source="DOID:11044"} -xref: OMIM:230750 {source="Orphanet:2368", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044"} +xref: OMIM:230750 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: Orphanet:2368 {source="MONDO:equivalentTo", source="OMIM:230750"} xref: SCTID:72951007 {source="EFO:1000949", source="MONDO:equivalentTo", source="DOID:11044"} xref: UMLS:C0238577 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:230750"} -xref: UMLS:C0265706 {source="Orphanet:2368", source="NCBI:mim2gene_medline", source="NCIT:C84725", source="ORDO:2368/e", source="MONDO:equivalentTo", source="DOID:11044", source="OMIM:230750"} +xref: UMLS:C0265706 {source="Orphanet:2368", source="NCBI:mim2gene_medline", source="NCIT:C84725", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e", source="OMIM:230750"} is_a: MONDO:0015215 {source="Orphanet:2368"} ! non-syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0018241 {source="Orphanet:2368"} ! primary short bowel syndrome property_value: confidence "5.0" xsd:double @@ -173794,11 +173762,11 @@ synonym: "glucocerebrosidase deficiency" EXACT EXCLUDE [DOID:0110957] synonym: "non-cerebral juvenile Gaucher disease" EXACT [Orphanet:77259] xref: DOID:0110957 {source="MONDO:equivalentTo"} xref: GARD:0002441 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:77259", source="DOID:0110957", source="ORDO:77259/attributed", source="ORDO:77259/ntbt"} -xref: OMIM:230800 {source="Orphanet:77259", source="MONDO:equivalentTo", source="DOID:0110957", source="ORDO:77259/e"} +xref: ICD10CM:E75.2 {source="Orphanet:77259/attributed", source="Orphanet:77259/ntbt", source="Orphanet:77259", source="DOID:0110957"} +xref: OMIM:230800 {source="Orphanet:77259", source="MONDO:equivalentTo", source="DOID:0110957", source="Orphanet:77259/e"} xref: Orphanet:355 {source="MONDO:subClassOf", source="OMIM:230800"} xref: Orphanet:77259 {source="OMIM:230800", source="MONDO:equivalentTo", source="DOID:0110957"} -xref: UMLS:C1961835 {source="OMIM:230800", source="Orphanet:77259", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:77259/e"} +xref: UMLS:C1961835 {source="OMIM:230800", source="Orphanet:77259", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77259/e"} is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0018150 {source="DC-OMIM:230800", source="DOID:0110957", source="Orphanet:77259"} ! Gaucher disease is_a: MONDO:0018374 {source="MONDO:0018377-obsoleted"} ! secondary avascular necrosis @@ -173826,12 +173794,12 @@ synonym: "GD II" EXACT [DOID:0110958] synonym: "infantile cerebral Gaucher disease" EXACT [DOID:0110958, Orphanet:77260] xref: DOID:0110958 {source="MONDO:equivalentTo"} xref: GARD:0002442 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="DOID:0110958", source="ORDO:77260/attributed", source="ORDO:77260/ntbt", source="Orphanet:77260"} -xref: OMIM:230900 {source="ORDO:77260/e", source="DOID:0110958", source="MONDO:equivalentTo", source="Orphanet:77260"} +xref: ICD10CM:E75.2 {source="DOID:0110958", source="Orphanet:77260", source="Orphanet:77260/attributed", source="Orphanet:77260/ntbt"} +xref: OMIM:230900 {source="DOID:0110958", source="MONDO:equivalentTo", source="Orphanet:77260", source="Orphanet:77260/e"} xref: Orphanet:355 {source="MONDO:subClassOf", source="OMIM:230900"} xref: Orphanet:77260 {source="OMIM:230900", source="DOID:0110958", source="MONDO:equivalentTo"} xref: SCTID:12246008 {source="MONDO:equivalentTo"} -xref: UMLS:C0268250 {source="OMIM:230900", source="ORDO:77260/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77260"} +xref: UMLS:C0268250 {source="OMIM:230900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77260", source="Orphanet:77260/e"} is_a: MONDO:0002561 {source="DOID:0110958/inferred", source="Orphanet:77260/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease is_a: MONDO:0017014 ! interstitial lung disease specific to childhood is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="Orphanet:77260", source="linkedlifedata"} ! Gaucher disease @@ -173865,12 +173833,12 @@ synonym: "Gd 3" RELATED [OMIM:231000] synonym: "GD III" EXACT [DOID:0110959] xref: DOID:0110959 {source="MONDO:equivalentTo"} xref: GARD:0002443 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="ORDO:77261/attributed", source="ORDO:77261/ntbt", source="Orphanet:77261", source="DOID:0110959"} -xref: OMIM:231000 {source="MONDO:equivalentTo", source="ORDO:77261/e", source="Orphanet:77261", source="DOID:0110959"} +xref: ICD10CM:E75.2 {source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/attributed", source="Orphanet:77261/ntbt"} +xref: OMIM:231000 {source="MONDO:equivalentTo", source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/e"} xref: Orphanet:355 {source="MONDO:subClassOf", source="OMIM:231000"} xref: Orphanet:77261 {source="MONDO:equivalentTo", source="OMIM:231000", source="DOID:0110959"} xref: SCTID:5963005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268251 {source="NCBI:mim2gene_medline", source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset", source="ORDO:77261/e", source="Orphanet:77261"} +xref: UMLS:C0268251 {source="NCBI:mim2gene_medline", source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77261", source="Orphanet:77261/e"} xref: UMLS:C1856491 {source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1856492 {source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1856493 {source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset"} @@ -173904,13 +173872,13 @@ synonym: "Gaucher-like disease" EXACT [Orphanet:2072] synonym: "pseudo Gaucher disease" RELATED [GARD:0002445] xref: GARD:0002445 {source="MONDO:equivalentTo"} xref: GARD:0012504 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.2 {source="ORDO:2072/attributed", source="ORDO:2072/ntbt", source="Orphanet:2072"} +xref: ICD10CM:E75.2 {source="Orphanet:2072", source="Orphanet:2072/attributed", source="Orphanet:2072/ntbt"} xref: MESH:C565553 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:231005 {source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072", source="ORDO:2072/e"} +xref: OMIM:231005 {source="Orphanet:2072/e", source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072"} xref: Orphanet:2072 {source="MONDO:equivalentTo", source="OMIM:231005"} xref: Orphanet:355 {source="MONDO:subClassOf", source="OMIM:231005"} xref: UMLS:C1856476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2072", source="OMIM:231005"} -xref: UMLS:C2931585 {source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072", source="ORDO:2072/e"} +xref: UMLS:C2931585 {source="Orphanet:2072/e", source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072"} is_a: MONDO:0018150 {source="Orphanet:2072"} ! Gaucher disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4177 {source="mim2gene_medgen"} ! GBA property_value: confidence "2.0000000000000004" xsd:double @@ -173946,11 +173914,11 @@ synonym: "genito palato cardiac syndrome" RELATED [GARD:0002460] synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060] synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060] xref: GARD:0002460 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2075/attributed", source="ORDO:2075/ntbt", source="Orphanet:2075"} -xref: MESH:C537683 {source="MONDO:equivalentTo", source="ORDO:2075/e", source="Orphanet:2075"} -xref: OMIM:231060 {source="MONDO:equivalentTo", source="ORDO:2075/e", source="Orphanet:2075"} +xref: ICD10CM:Q87.8 {source="Orphanet:2075/attributed", source="Orphanet:2075/ntbt", source="Orphanet:2075"} +xref: MESH:C537683 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} +xref: OMIM:231060 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} xref: Orphanet:2075 {source="OMIM:231060", source="MONDO:equivalentTo"} -xref: UMLS:C1856466 {source="OMIM:231060", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2075/e", source="Orphanet:2075"} +xref: UMLS:C1856466 {source="OMIM:231060", source="NCBI:mim2gene_medline", source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0015161 {source="Orphanet:2075", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2075"} ! orofacial clefting syndrome @@ -173976,13 +173944,13 @@ synonym: "GO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231070] synonym: "Walt Disney dwarfism" RELATED [OMIM:231070] xref: DOID:0111266 {source="MONDO:equivalentTo"} xref: GARD:0000413 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:2078", source="ORDO:2078/attributed", source="ORDO:2078/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:2078", source="Orphanet:2078/attributed", source="Orphanet:2078/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537799 {source="Orphanet:2078", source="ORDO:2078/e", source="MONDO:equivalentTo"} -xref: OMIM:231070 {source="Orphanet:2078", source="ORDO:2078/e", source="MONDO:equivalentTo"} +xref: MESH:C537799 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"} +xref: OMIM:231070 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"} xref: Orphanet:2078 {source="OMIM:231070", source="MONDO:equivalentTo"} xref: SCTID:254116003 {source="MONDO:equivalentTo"} -xref: UMLS:C0432255 {source="Orphanet:2078", source="OMIM:231070", source="ORDO:2078/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0432255 {source="Orphanet:2078", source="OMIM:231070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2078/e"} is_a: MONDO:0100237 {source="Orphanet:2078"} ! inherited cutis laxa relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25676 {source="mim2gene_medgen"} ! GORAB relationship: disease_has_feature HP:0004349 {source="Orphanet:2078"} ! Reduced bone mineral density @@ -173996,9 +173964,9 @@ name: German syndrome def: "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." [Orphanet:2077] subset: ordo_malformation_syndrome {source="Orphanet:2077"} synonym: "German syndrome" EXACT [OMIM:231080] -xref: ICD10CM:Q87.8 {source="Orphanet:2077", source="ORDO:2077/attributed", source="ORDO:2077/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2077", source="Orphanet:2077/attributed", source="Orphanet:2077/ntbt"} xref: MESH:C562543 {source="MONDO:equivalentTo"} -xref: OMIM:231080 {source="Orphanet:2077", source="MONDO:equivalentTo", source="ORDO:2077/e"} +xref: OMIM:231080 {source="Orphanet:2077", source="MONDO:equivalentTo", source="Orphanet:2077/e"} xref: Orphanet:2077 {source="MONDO:equivalentTo", source="OMIM:231080"} xref: SCTID:733037000 {source="MONDO:equivalentTo"} xref: UMLS:C0265373 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:231080"} @@ -174026,7 +173994,7 @@ xref: Orphanet:254688 {source="MONDO:subClassOf", source="OMIM:231090"} xref: Orphanet:99927 {source="MONDO:subClassOf", source="OMIM:231090"} xref: UMLS:C2931618 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3463897 {source="MONDO:equivalentTo", source="OMIM:231090"} -is_a: MONDO:0016785 {source="MONDO:Redundant", source="ORDO:254688/btnt"} ! complete hydatidiform mole +is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole is_a: MONDO:0018944 {source="DC-OMIM:231090"} ! gestational trophoblastic neoplasm intersection_of: MONDO:0016785 ! complete hydatidiform mole intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22947 ! NLRP7 @@ -174049,7 +174017,7 @@ synonym: "Ghosal syndrome" EXACT [GARD:0010297, OMIM:231095, Orphanet:1802] xref: GARD:0010297 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565551 {source="MONDO:equivalentTo"} -xref: OMIM:231095 {source="GARD:0010297", source="MONDO:equivalentTo", source="Orphanet:1802", source="ORDO:1802/e"} +xref: OMIM:231095 {source="Orphanet:1802/e", source="GARD:0010297", source="MONDO:equivalentTo", source="Orphanet:1802"} xref: Orphanet:1802 {source="OMIM:231095", source="GARD:0010297", source="MONDO:equivalentTo"} xref: SCTID:389214003 {source="MONDO:equivalentTo"} xref: UMLS:C1856465 {source="OMIM:231095", source="GARD:0010297", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1802"} @@ -174080,12 +174048,12 @@ synonym: "neonatal Hepatitis, formerly" RELATED [OMIM:231100] synonym: "Nh" RELATED [OMIM:231100] synonym: "Nhc" RELATED [OMIM:231100] xref: GARD:0007172 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="Orphanet:446", source="ORDO:446/attributed", source="ORDO:446/ntbt"} -xref: MESH:C536394 {source="Orphanet:446", source="MONDO:equivalentTo", source="ORDO:446/e"} +xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="Orphanet:446/attributed", source="Orphanet:446/ntbt", source="Orphanet:446"} +xref: MESH:C536394 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"} xref: NCIT:C129980 {source="MONDO:equivalentTo"} -xref: OMIM:231100 {source="Orphanet:446", source="MONDO:equivalentTo", source="ORDO:446/e"} +xref: OMIM:231100 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"} xref: Orphanet:446 {source="MONDO:equivalentTo", source="OMIM:231100"} -xref: UMLS:C0268059 {source="NCIT:C129980", source="Orphanet:446", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231100", source="ORDO:446/e"} +xref: UMLS:C0268059 {source="NCIT:C129980", source="Orphanet:446", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231100", source="Orphanet:446/e"} is_a: MONDO:0001436 {source="MONDO:Redundant", source="NCIT:C129980", source="indirect"} ! hemosiderosis is_a: MONDO:0005066 {source="MONDO:Redundant", source="Orphanet:446"} ! metabolic disease is_a: MONDO:0006507 {source="DC-OMIM:231100", source="MESH:C536394", source="MONDO:Redundant"} ! hereditary hemochromatosis @@ -174121,17 +174089,17 @@ synonym: "thrombopathy, Bernard-Soulier" EXACT [DOID:2217] synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200] xref: DOID:2217 {source="MONDO:equivalentTo"} xref: GARD:0002470 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.1 {source="ORDO:274/ntbt", source="Orphanet:274", source="ORDO:274/inclusion"} -xref: MedDRA:10057473 {source="ORDO:274/e", source="Orphanet:274"} -xref: MESH:D001606 {source="MONDO:equivalentTo", source="DOID:2217", source="ORDO:274/e", source="Orphanet:274"} +xref: ICD10CM:D69.1 {source="Orphanet:274/inclusion", source="Orphanet:274", source="Orphanet:274/ntbt"} +xref: MedDRA:10057473 {source="Orphanet:274/e", source="Orphanet:274"} +xref: MESH:D001606 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"} xref: NCIT:C84595 {source="MONDO:equivalentTo", source="DOID:2217"} -xref: OMIM:153670 {source="ORDO:274/btnt", source="MONDO:superClassOf", source="Orphanet:274"} -xref: OMIM:231200 {source="MONDO:equivalentTo", source="DOID:2217", source="ORDO:274/e", source="Orphanet:274"} +xref: OMIM:153670 {source="MONDO:superClassOf", source="Orphanet:274", source="Orphanet:274/btnt"} +xref: OMIM:231200 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"} xref: Orphanet:274 {source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200"} xref: SCTID:191309003 {source="DOID:2217"} xref: SCTID:234478007 {source="MONDO:equivalentTo", source="DOID:2217"} xref: SCTID:54569005 {source="DOID:2217"} -xref: UMLS:C0005129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200", source="ORDO:274/e", source="NCIT:C84595", source="Orphanet:274"} +xref: UMLS:C0005129 {source="Orphanet:274/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200", source="NCIT:C84595", source="Orphanet:274"} xref: UMLS:C1856447 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:231200"} xref: UMLS:C1856448 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:231200"} xref: UMLS:C2713537 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:231200"} @@ -174219,18 +174187,18 @@ synonym: "triple-a syndrome" EXACT [OMIM:231550] xref: DOID:0050602 {source="MONDO:equivalentTo"} xref: EFO:1001997 {source="MONDO:equivalentTo"} xref: GARD:0000457 {source="MONDO:equivalentTo"} -xref: ICD10CM:E27.4 {source="ORDO:869/attributed", source="ORDO:869/ntbt", source="Orphanet:869"} +xref: ICD10CM:E27.4 {source="Orphanet:869", source="Orphanet:869/attributed", source="Orphanet:869/ntbt"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536008 {source="ORDO:869/e", source="MONDO:equivalentTo", source="Orphanet:869"} -xref: MESH:C536009 {source="ORDO:869/e", source="Orphanet:869"} +xref: MESH:C536008 {source="MONDO:equivalentTo", source="Orphanet:869", source="Orphanet:869/e"} +xref: MESH:C536009 {source="Orphanet:869", source="Orphanet:869/e"} xref: NCIT:C131005 {source="MONDO:equivalentTo"} -xref: OMIM:231550 {source="ORDO:869/e", source="MONDO:equivalentTo", source="Orphanet:869", source="DOID:0050602"} -xref: OMIM:615510 {source="ORDO:869/btnt", source="Orphanet:869", source="MONDO:superClassOf"} +xref: OMIM:231550 {source="MONDO:equivalentTo", source="Orphanet:869", source="DOID:0050602", source="Orphanet:869/e"} +xref: OMIM:615510 {source="Orphanet:869", source="MONDO:superClassOf", source="Orphanet:869/btnt"} xref: Orphanet:869 {source="MONDO:equivalentTo", source="OMIM:231550"} xref: Orphanet:99777 {source="OMIM:231550"} xref: SCTID:45414006 {source="MONDO:equivalentTo"} -xref: UMLS:C0271742 {source="NCBI:mim2gene_medline", source="ORDO:869/e", source="OMIM:231550", source="Orphanet:869", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931084 {source="ORDO:869/e", source="Orphanet:869", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0271742 {source="NCBI:mim2gene_medline", source="OMIM:231550", source="Orphanet:869", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:869/e"} +xref: UMLS:C2931084 {source="Orphanet:869", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:869/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131005", source="indirect"} ! syndromic disease is_a: MONDO:0005495 {source="EFO:1001997/inferred", source="MONDO:Entailed", source="Orphanet:869", source="Orphanet:869/inferred"} ! adrenal gland disorder is_a: MONDO:0006025 {source="DOID:0050602", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease @@ -174279,13 +174247,13 @@ synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [OMIM:2 synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:25] xref: DOID:0111254 {source="MONDO:equivalentTo"} xref: GARD:0006522 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.3 {source="MONDO:relatedTo", source="Orphanet:25", source="ORDO:25/ntbt", source="ORDO:25/inclusion"} -xref: MESH:C536833 {source="Orphanet:25", source="ORDO:25/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E72.3 {source="Orphanet:25/ntbt", source="MONDO:relatedTo", source="Orphanet:25/inclusion", source="Orphanet:25"} +xref: MESH:C536833 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"} xref: NCIT:C99101 {source="MONDO:equivalentTo"} -xref: OMIM:231670 {source="Orphanet:25", source="ORDO:25/e", source="MONDO:equivalentTo"} +xref: OMIM:231670 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"} xref: Orphanet:25 {source="MONDO:equivalentTo", source="OMIM:231670"} xref: SCTID:76175005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268595 {source="Orphanet:25", source="NCBI:mim2gene_medline", source="ORDO:25/e", source="MONDO:equivalentTo", source="OMIM:231670", source="NCIT:C99101"} +xref: UMLS:C0268595 {source="Orphanet:25", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231670", source="NCIT:C99101", source="Orphanet:25/e"} is_a: MONDO:0000129 {source="DC-OMIM:231670", source="linkedlifedata"} ! glutaric aciduria is_a: MONDO:0019058 {source="Orphanet:25"} ! neurometabolic disease is_a: MONDO:0019213 {source="Orphanet:25"} ! cerebral organic aciduria @@ -174325,12 +174293,12 @@ synonym: "multiple acyl Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84907] synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:231680] xref: DOID:0060358 {source="MONDO:equivalentTo"} xref: GARD:0006523 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.3 {source="ORDO:26791/attributed", source="ORDO:26791/ntbt", source="Orphanet:26791"} +xref: ICD10CM:E71.3 {source="Orphanet:26791", source="Orphanet:26791/attributed", source="Orphanet:26791/ntbt"} xref: ICD10CM:E71.313 {source="DOID:0060358"} xref: MESH:D054069 {source="DOID:0060358"} xref: NCIT:C84907 {source="DOID:0060358", source="MONDO:equivalentTo"} xref: NCIT:C99102 {source="DOID:0060358", source="MONDO:otherHierarchy"} -xref: OMIM:231680 {source="ORDO:26791/e", source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791"} +xref: OMIM:231680 {source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791", source="Orphanet:26791/e"} xref: Orphanet:26791 {source="OMIM:231680", source="DOID:0060358", source="MONDO:equivalentTo"} xref: SCTID:22886006 {source="DOID:0060358"} xref: UMLS:C0268596 {source="OMIM:231680", source="NCBI:mim2gene_medline", source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791", source="NCIT:C84907"} @@ -174375,13 +174343,13 @@ synonym: "glutaryl-CoA oxidase deficiency" EXACT [Orphanet:35706] synonym: "glutaryl-Coa oxidase deficiency" RELATED [OMIM:231690] synonym: "SUGCT glutaric aciduria (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: GARD:0012469 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.3 {source="MONDO:relatedTo", source="ORDO:35706/attributed", source="ORDO:35706/ntbt", source="Orphanet:35706"} +xref: ICD10CM:E72.3 {source="MONDO:relatedTo", source="Orphanet:35706", source="Orphanet:35706/attributed", source="Orphanet:35706/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562818 {source="MONDO:equivalentTo"} -xref: OMIM:231690 {source="ORDO:35706/e", source="MONDO:equivalentTo", source="Orphanet:35706"} +xref: OMIM:231690 {source="MONDO:equivalentTo", source="Orphanet:35706", source="Orphanet:35706/e"} xref: Orphanet:35706 {source="OMIM:231690", source="MONDO:equivalentTo"} xref: SCTID:238070003 {source="MONDO:equivalentTo"} -xref: UMLS:C0342873 {source="NCBI:mim2gene_medline", source="OMIM:231690", source="ORDO:35706/e", source="MONDO:equivalentTo", source="Orphanet:35706"} +xref: UMLS:C0342873 {source="NCBI:mim2gene_medline", source="OMIM:231690", source="MONDO:equivalentTo", source="Orphanet:35706", source="Orphanet:35706/e"} is_a: MONDO:0000129 {source="DC-OMIM:231690", source="MONDO:Redundant"} ! glutaric aciduria intersection_of: MONDO:0000129 ! glutaric aciduria intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16001 ! SUGCT @@ -174397,9 +174365,9 @@ subset: ordo_clinical_subtype {source="Orphanet:289849"} synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900] synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231900] synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM:231900, OMIM:genemap2] -xref: ICD10CM:D55.1 {source="ORDO:289849/attributed", source="ORDO:289849/ntbt", source="Orphanet:289849"} +xref: ICD10CM:D55.1 {source="Orphanet:289849/attributed", source="Orphanet:289849/ntbt", source="Orphanet:289849"} xref: MESH:C565545 {source="MONDO:equivalentTo"} -xref: OMIM:231900 {source="MONDO:equivalentTo", source="ORDO:289849/e", source="Orphanet:289849"} +xref: OMIM:231900 {source="Orphanet:289849/e", source="MONDO:equivalentTo", source="Orphanet:289849"} xref: Orphanet:289849 {source="OMIM:231900", source="MONDO:equivalentTo"} xref: Orphanet:32 {source="MONDO:subClassOf", source="OMIM:231900"} xref: UMLS:C1856399 {source="OMIM:231900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289849"} @@ -174425,10 +174393,10 @@ synonym: "inborn glutathione hydrolase activity disorder" EXACT [] synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111257 {source="MONDO:equivalentTo"} xref: GARD:0010099 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="ORDO:33573/attributed", source="ORDO:33573/ntbt", source="Orphanet:33573"} +xref: ICD10CM:E72.8 {source="Orphanet:33573/attributed", source="Orphanet:33573/ntbt", source="Orphanet:33573"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536836 {source="MONDO:equivalentTo"} -xref: OMIM:231950 {source="MONDO:equivalentTo", source="ORDO:33573/e", source="Orphanet:33573"} +xref: OMIM:231950 {source="Orphanet:33573/e", source="MONDO:equivalentTo", source="Orphanet:33573"} xref: Orphanet:33573 {source="MONDO:equivalentTo", source="OMIM:231950"} xref: SCTID:78586005 {source="MONDO:equivalentTo"} xref: UMLS:C0268524 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:231950", source="Orphanet:33573"} @@ -174484,9 +174452,9 @@ synonym: "hepatorenal form of glycogen storage disease" RELATED [OMIM:232200] synonym: "hepatorenal glycogenosis" RELATED [OMIM:232200] synonym: "Von Gierke disease" RELATED [OMIM:232200] xref: GARD:0007864 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:79258/attributed", source="ORDO:79258/ntbt", source="Orphanet:79258"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:79258/attributed", source="Orphanet:79258/ntbt", source="Orphanet:79258"} xref: MESH:C538655 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:232200 {source="MONDO:equivalentTo", source="ORDO:79258/e", source="Orphanet:79258"} +xref: OMIM:232200 {source="Orphanet:79258/e", source="MONDO:equivalentTo", source="Orphanet:79258"} xref: Orphanet:364 {source="MONDO:subClassOf", source="OMIM:232200"} xref: Orphanet:79258 {source="MONDO:equivalentTo", source="OMIM:232200"} xref: SCTID:444707001 {source="MONDO:equivalentTo"} @@ -174535,11 +174503,11 @@ synonym: "GSD1C" RELATED ABBREVIATION [OMIM:232240] synonym: "Gsd1C" RELATED [OMIM:232240] synonym: "GSDIb" EXACT [Orphanet:79259] xref: GARD:0002515 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:79259", source="ORDO:79259/attributed", source="ORDO:79259/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:79259", source="Orphanet:79259/attributed", source="Orphanet:79259/ntbt"} xref: MESH:C562594 {source="MONDO:equivalentTo"} xref: NCIT:C122661 {source="MONDO:equivalentTo"} -xref: OMIM:232220 {source="Orphanet:79259", source="MONDO:equivalentTo", source="ORDO:79259/e"} -xref: OMIM:232240 {source="Orphanet:79259", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="ORDO:79259/btnt"} +xref: OMIM:232220 {source="Orphanet:79259", source="MONDO:equivalentTo", source="Orphanet:79259/e"} +xref: OMIM:232240 {source="Orphanet:79259", source="Orphanet:79259/btnt", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:364 {source="MONDO:subClassOf", source="OMIM:232240", source="OMIM:232220"} xref: Orphanet:79259 {source="MONDO:subClassOf", source="OMIM:232240", source="MONDO:equivalentTo", source="OMIM:232220", source="MONDO:directSiblingOf"} xref: SCTID:237965005 {source="MONDO:equivalentTo"} @@ -174605,12 +174573,12 @@ synonym: "Pompe's disease" EXACT [DOID:2752] xref: DOID:2752 {source="MONDO:equivalentTo"} xref: GARD:0002503 {source="MONDO:equivalentTo"} xref: GARD:0005714 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:365/ntbt", source="ORDO:365/inclusion", source="Orphanet:365"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:365/ntbt", source="Orphanet:365/inclusion", source="Orphanet:365"} xref: ICD10CM:E74.02 {source="DOID:2752"} -xref: MedDRA:10053185 {source="ORDO:365/e", source="Orphanet:365"} -xref: MESH:D006009 {source="DOID:2752", source="ORDO:365/e", source="Orphanet:365"} +xref: MedDRA:10053185 {source="Orphanet:365/e", source="Orphanet:365"} +xref: MESH:D006009 {source="DOID:2752", source="Orphanet:365/e", source="Orphanet:365"} xref: NCIT:C84734 {source="DOID:2752", source="MONDO:equivalentTo"} -xref: OMIM:232300 {source="DOID:2752", source="MONDO:equivalentTo", source="ORDO:365/e", source="Orphanet:365"} +xref: OMIM:232300 {source="DOID:2752", source="Orphanet:365/e", source="MONDO:equivalentTo", source="Orphanet:365"} xref: Orphanet:365 {source="MONDO:equivalentTo", source="OMIM:232300"} xref: SCTID:124454007 {source="DOID:2752"} xref: SCTID:124462004 {source="DOID:2752"} @@ -174620,7 +174588,7 @@ xref: SCTID:237968007 {source="DOID:2752"} xref: SCTID:267424007 {source="DOID:2752"} xref: SCTID:274864009 {source="MONDO:equivalentTo"} xref: SCTID:76219003 {source="DOID:2752"} -xref: UMLS:C0017921 {source="NCIT:C84734", source="DOID:2752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:232300", source="ORDO:365/e", source="Orphanet:365"} +xref: UMLS:C0017921 {source="NCIT:C84734", source="DOID:2752", source="NCBI:mim2gene_medline", source="Orphanet:365/e", source="MONDO:equivalentTo", source="OMIM:232300", source="Orphanet:365"} xref: UMLS:C1968741 {source="MONDO:equivalentTo"} xref: UMLS:C2931347 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232300"} is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="MONDO:Redundant", source="NCIT:C84734", source="Orphanet:365"} ! glycogen storage disease @@ -174671,21 +174639,21 @@ synonym: "GSDIII" EXACT ABBREVIATION [Orphanet:366] synonym: "limit dextrinosis" EXACT [OMIM:232400, Orphanet:366] xref: DOID:2748 {source="MONDO:equivalentTo"} xref: GARD:0009442 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:366/inclusion", source="ORDO:366/ntbt", source="Orphanet:366"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:366/ntbt", source="Orphanet:366/inclusion", source="Orphanet:366"} xref: ICD10CM:E74.03 {source="DOID:2748"} -xref: MedDRA:10053250 {source="ORDO:366/e", source="Orphanet:366"} +xref: MedDRA:10053250 {source="Orphanet:366/e", source="Orphanet:366"} xref: MESH:D006010 {source="MONDO:equivalentTo", source="DOID:2748"} xref: NCIT:C84736 {source="MONDO:equivalentTo", source="DOID:2748"} -xref: OMIM:232400 {source="MONDO:equivalentTo", source="DOID:2748", source="ORDO:366/e", source="Orphanet:366"} +xref: OMIM:232400 {source="Orphanet:366/e", source="MONDO:equivalentTo", source="DOID:2748", source="Orphanet:366"} xref: Orphanet:366 {source="MONDO:equivalentTo", source="OMIM:232400"} xref: SCTID:124474000 {source="DOID:2748"} xref: SCTID:66937008 {source="MONDO:equivalentTo", source="DOID:2748"} -xref: UMLS:C0017922 {source="NCBI:mim2gene_medline", source="NCIT:C84736", source="MONDO:equivalentTo", source="OMIM:232400", source="DOID:2748", source="ORDO:366/e", source="Orphanet:366"} +xref: UMLS:C0017922 {source="Orphanet:366/e", source="NCBI:mim2gene_medline", source="NCIT:C84736", source="MONDO:equivalentTo", source="OMIM:232400", source="DOID:2748", source="Orphanet:366"} xref: UMLS:C1968739 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232400"} xref: UMLS:C1968740 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232400"} xref: UMLS:C1968741 {source="OMIM:232400", source="MONDO:directSiblingOf"} xref: UMLS:C1968742 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232400"} -xref: UMLS:C2936915 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:366/e", source="Orphanet:366"} +xref: UMLS:C2936915 {source="Orphanet:366/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:366"} xref: UMLS:CN204781 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MONDO:Redundant", source="NCIT:C84736", source="Orphanet:366", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease intersection_of: MONDO:0002412 ! glycogen storage disease @@ -174734,20 +174702,20 @@ synonym: "GSD type IV" EXACT [Orphanet:367] synonym: "GSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232500] xref: DOID:2750 {source="MONDO:equivalentTo"} xref: GARD:0002520 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:367", source="ORDO:367/inclusion", source="ORDO:367/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:367", source="Orphanet:367/ntbt", source="Orphanet:367/inclusion"} xref: ICD10CM:E74.09 {source="DOID:2750"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053249 {source="Orphanet:367", source="ORDO:367/e"} +xref: MedDRA:10053249 {source="Orphanet:367", source="Orphanet:367/e"} xref: MESH:D006011 {source="DOID:2750"} xref: NCIT:C84737 {source="DOID:2750", source="MONDO:equivalentTo"} -xref: OMIM:232500 {source="Orphanet:367", source="DOID:2750", source="MONDO:equivalentTo", source="ORDO:367/btnt"} -xref: OMIM:263570 {source="Orphanet:367", source="MONDO:superClassOf", source="ORDO:367/btnt"} +xref: OMIM:232500 {source="Orphanet:367", source="DOID:2750", source="Orphanet:367/btnt", source="MONDO:equivalentTo"} +xref: OMIM:263570 {source="Orphanet:367", source="Orphanet:367/btnt", source="MONDO:superClassOf"} xref: Orphanet:367 {source="MONDO:equivalentTo", source="OMIM:232500"} xref: SCTID:11179002 {source="DOID:2750"} xref: SCTID:124267007 {source="DOID:2750", source="MONDO:equivalentTo"} xref: SCTID:190742009 {source="DOID:2750"} -xref: UMLS:C0017923 {source="Orphanet:367", source="DOID:2750", source="NCIT:C84737", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:232500", source="ORDO:367/e"} -xref: UMLS:C1563715 {source="Orphanet:367", source="MONDO:relatedTo", source="ORDO:367/e"} +xref: UMLS:C0017923 {source="Orphanet:367", source="DOID:2750", source="NCIT:C84737", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:367/e", source="OMIM:232500"} +xref: UMLS:C1563715 {source="Orphanet:367", source="MONDO:relatedTo", source="Orphanet:367/e"} xref: UMLS:C1856301 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232500"} xref: UMLS:C1856302 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232500"} xref: UMLS:C1856303 {source="MONDO:superClassOf", source="OMIM:232500"} @@ -174795,17 +174763,17 @@ synonym: "Pygm deficiency" RELATED [OMIM:232600] synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2746 {source="MONDO:equivalentTo"} xref: GARD:0006528 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:368", source="ORDO:368/inclusion", source="ORDO:368/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:368", source="Orphanet:368/ntbt", source="Orphanet:368/inclusion"} xref: ICD10CM:E74.04 {source="DOID:2746"} -xref: MedDRA:10018462 {source="Orphanet:368", source="ORDO:368/e"} -xref: MESH:C537276 {source="Orphanet:368", source="ORDO:368/e"} -xref: MESH:D006012 {source="Orphanet:368", source="MONDO:equivalentTo", source="DOID:2746", source="ORDO:368/e"} +xref: MedDRA:10018462 {source="Orphanet:368", source="Orphanet:368/e"} +xref: MESH:C537276 {source="Orphanet:368", source="Orphanet:368/e"} +xref: MESH:D006012 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="DOID:2746"} xref: NCIT:C84738 {source="MONDO:equivalentTo", source="DOID:2746"} -xref: OMIM:232600 {source="Orphanet:368", source="MONDO:equivalentTo", source="DOID:2746", source="ORDO:368/e"} +xref: OMIM:232600 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="DOID:2746"} xref: Orphanet:368 {source="MONDO:equivalentTo", source="OMIM:232600"} xref: SCTID:55912009 {source="MONDO:equivalentTo", source="DOID:2746"} -xref: UMLS:C0017924 {source="Orphanet:368", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84738", source="DOID:2746", source="OMIM:232600", source="ORDO:368/e"} -xref: UMLS:C2936916 {source="Orphanet:368", source="MONDO:notFoundInDiseaseSubset", source="ORDO:368/e"} +xref: UMLS:C0017924 {source="Orphanet:368", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:368/e", source="NCIT:C84738", source="DOID:2746", source="OMIM:232600"} +xref: UMLS:C2936916 {source="Orphanet:368", source="Orphanet:368/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="Orphanet:368", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:368"} ! muscular glycogenosis intersection_of: MONDO:0002412 ! glycogen storage disease @@ -174842,16 +174810,16 @@ synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [O synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2754 {source="MONDO:equivalentTo"} xref: GARD:0006529 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:369", source="ORDO:369/inclusion", source="ORDO:369/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:369/ntbt", source="Orphanet:369", source="Orphanet:369/inclusion"} xref: ICD10CM:E74.09 {source="DOID:2754"} -xref: MedDRA:10053240 {source="Orphanet:369", source="ORDO:369/e"} +xref: MedDRA:10053240 {source="Orphanet:369", source="Orphanet:369/e"} xref: MESH:D006013 {source="DOID:2754", source="MONDO:equivalentTo"} xref: NCIT:C126875 {source="MONDO:equivalentTo"} -xref: OMIM:232700 {source="Orphanet:369", source="DOID:2754", source="MONDO:equivalentTo", source="ORDO:369/e"} +xref: OMIM:232700 {source="Orphanet:369", source="DOID:2754", source="MONDO:equivalentTo", source="Orphanet:369/e"} xref: Orphanet:369 {source="DOID:2754", source="MONDO:equivalentTo", source="OMIM:232700"} xref: SCTID:237971004 {source="DOID:2754"} xref: SCTID:29291001 {source="DOID:2754", source="MONDO:equivalentTo"} -xref: UMLS:C0017925 {source="Orphanet:369", source="NCBI:mim2gene_medline", source="DOID:2754", source="MONDO:equivalentTo", source="NCIT:C126875", source="ORDO:369/e"} +xref: UMLS:C0017925 {source="Orphanet:369", source="NCBI:mim2gene_medline", source="DOID:2754", source="MONDO:equivalentTo", source="NCIT:C126875", source="Orphanet:369/e"} xref: UMLS:C1419156 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:232700"} is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="Orphanet:369", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0005066 {source="Orphanet:369"} ! metabolic disease @@ -174890,16 +174858,16 @@ synonym: "phosphofructokinase myopathy" EXACT [DOID:11721] synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371] xref: DOID:11721 {source="MONDO:equivalentTo"} xref: GARD:0005686 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:371/ntbt", source="Orphanet:371", source="ORDO:371/inclusion"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:371/inclusion", source="Orphanet:371", source="Orphanet:371/ntbt"} xref: ICD10CM:E74.09 {source="DOID:11721"} -xref: MedDRA:10053241 {source="ORDO:371/e", source="Orphanet:371"} +xref: MedDRA:10053241 {source="Orphanet:371", source="Orphanet:371/e"} xref: MESH:D006014 {source="DOID:11721", source="MONDO:equivalentTo"} xref: NCIT:C118437 {source="DOID:11721", source="MONDO:equivalentTo"} -xref: OMIM:232800 {source="DOID:11721", source="MONDO:equivalentTo", source="ORDO:371/e", source="Orphanet:371"} +xref: OMIM:232800 {source="DOID:11721", source="MONDO:equivalentTo", source="Orphanet:371", source="Orphanet:371/e"} xref: Orphanet:371 {source="MONDO:equivalentTo", source="OMIM:232800"} xref: SCTID:234406005 {source="DOID:11721"} xref: SCTID:89597008 {source="DOID:11721", source="MONDO:equivalentTo"} -xref: UMLS:C0017926 {source="DOID:11721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:371/e", source="Orphanet:371", source="NCIT:C118437", source="OMIM:232800"} +xref: UMLS:C0017926 {source="DOID:11721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:371", source="NCIT:C118437", source="Orphanet:371/e", source="OMIM:232800"} is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="MONDO:Redundant", source="NCIT:C118437", source="Orphanet:371", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0016118 {source="Orphanet:371"} ! muscular glycogenosis @@ -174939,11 +174907,11 @@ synonym: "SGLT2 deficiency" EXACT [Orphanet:69076] xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"} xref: EFO:1001151 {source="MONDO:equivalentTo"} xref: GARD:0007548 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.8 {source="ORDO:69076/ntbt", source="Orphanet:69076", source="DOID:9432", source="ORDO:69076/inclusion"} +xref: ICD10CM:E74.8 {source="Orphanet:69076/inclusion", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/ntbt"} xref: ICD9:271.4 {source="EFO:1001151", source="MONDO:equivalentTo", source="i2s", source="DOID:9432"} xref: MedDRA:10038457 {source="EFO:1001151"} xref: MESH:D006030 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432"} -xref: OMIM:233100 {source="ORDO:69076/e", source="MONDO:equivalentTo", source="Orphanet:69076", source="DOID:9432"} +xref: OMIM:233100 {source="MONDO:equivalentTo", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/e"} xref: Orphanet:69076 {source="MONDO:equivalentTo", source="OMIM:233100"} xref: SCTID:154737003 {source="DOID:9432"} xref: SCTID:190759004 {source="DOID:9432"} @@ -174989,21 +174957,21 @@ synonym: "XX female gonadal dysgenesis" EXACT [Orphanet:243] synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300] synonym: "XX-GD" EXACT [Orphanet:243] xref: DOID:14450 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.1 {source="ORDO:243/specific", source="ORDO:243/e", source="Orphanet:243"} -xref: MESH:D023961 {source="DOID:14450", source="MONDO:equivalentTo", source="ORDO:243/e", source="Orphanet:243"} +xref: ICD10CM:Q99.1 {source="Orphanet:243/e", source="Orphanet:243/specific", source="Orphanet:243"} +xref: MESH:D023961 {source="Orphanet:243/e", source="DOID:14450", source="MONDO:equivalentTo", source="Orphanet:243"} xref: NCIT:C120197 {source="DOID:14450", source="MONDO:equivalentTo"} -xref: OMIM:233300 {source="DOID:14450", source="MONDO:superClassOf", source="ORDO:243/e", source="Orphanet:243"} +xref: OMIM:233300 {source="Orphanet:243/e", source="DOID:14450", source="MONDO:superClassOf", source="Orphanet:243"} xref: OMIM:278850 {source="DOID:14450", source="MONDO:superClassOf"} -xref: OMIM:300510 {source="ORDO:243/btnt", source="MONDO:superClassOf", source="Orphanet:243"} +xref: OMIM:300510 {source="MONDO:superClassOf", source="Orphanet:243/btnt", source="Orphanet:243"} xref: OMIM:300833 {source="DOID:14450", source="MONDO:superClassOf"} xref: OMIM:400045 {source="DOID:14450", source="MONDO:superClassOf"} xref: OMIM:611812 {source="DOID:14450", source="MONDO:superClassOf"} -xref: OMIM:614324 {source="ORDO:243/btnt", source="DOID:14450", source="MONDO:superClassOf", source="Orphanet:243"} +xref: OMIM:614324 {source="DOID:14450", source="MONDO:superClassOf", source="Orphanet:243/btnt", source="Orphanet:243"} xref: OMIMPS:233300 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="DOID:14450", source="MONDO:equivalentTo", source="OMIM:233300"} xref: SCTID:95198001 {source="MONDO:equivalentTo"} -xref: UMLS:C0685837 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:243/e", source="Orphanet:243"} -xref: UMLS:C0949595 {source="NCBI:mim2gene_medline", source="DOID:14450", source="MONDO:equivalentTo", source="NCIT:C120197", source="OMIM:233300", source="ORDO:243/e", source="Orphanet:243"} +xref: UMLS:C0685837 {source="Orphanet:243/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:243"} +xref: UMLS:C0949595 {source="Orphanet:243/e", source="NCBI:mim2gene_medline", source="DOID:14450", source="MONDO:equivalentTo", source="NCIT:C120197", source="OMIM:233300", source="Orphanet:243"} is_a: MONDO:0001967 {source="DOID:14450", source="MESH:D023961", source="NCIT:C120197", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonadal dysgenesis is_a: MONDO:0005558 {source="OMIM:233300", source="Orphanet:243/inferred", source="linkedlifedata/inferred"} ! ovarian disorder is_a: MONDO:0017961 {source="Orphanet:243"} ! 46,XX disorder of gonadal development @@ -175049,7 +175017,7 @@ xref: MESH:C565537 {source="MONDO:equivalentTo"} xref: OMIM:233420 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:233420"} xref: UMLS:C1856273 {source="NCBI:mim2gene_medline", source="OMIM:233420", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0010765 {source="MESH:C565537", source="OMIM:233420", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="MESH:C565537", source="OMIM:233420", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2865 {source="mim2gene_medgen"} ! DHH relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -175064,9 +175032,9 @@ synonym: "gonadal dysgenesis XY type associated anomalies" RELATED [GARD:0002541 synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [OMIM:233430] synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [OMIM:233430] xref: GARD:0002541 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.1 {source="Orphanet:1770", source="ORDO:1770/attributed", source="ORDO:1770/ntbt"} +xref: ICD10CM:Q99.1 {source="Orphanet:1770", source="Orphanet:1770/attributed", source="Orphanet:1770/ntbt"} xref: MESH:C565536 {source="MONDO:equivalentTo"} -xref: OMIM:233430 {source="Orphanet:1770", source="ORDO:1770/e", source="MONDO:equivalentTo"} +xref: OMIM:233430 {source="Orphanet:1770", source="MONDO:equivalentTo", source="Orphanet:1770/e"} xref: Orphanet:1770 {source="MONDO:equivalentTo", source="OMIM:233430"} xref: UMLS:C1856272 {source="GARD:0002541", source="Orphanet:1770", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233430"} is_a: MONDO:0020040 {source="Orphanet:1770"} ! 46,XY disorder of sex development @@ -175089,14 +175057,14 @@ xref: DOID:9808 {source="EFO:0007290", source="MONDO:equivalentTo"} xref: EFO:0007290 {source="MONDO:equivalentTo"} xref: GARD:0002551 {source="MONDO:equivalentTo"} xref: ICD10CM:M31.0 {source="DOID:9808"} -xref: ICD10EXP:M31.0+ {source="ORDO:375/e", source="Orphanet:375"} -xref: ICD10EXP:N08.5* {source="ORDO:375/e", source="Orphanet:375"} +xref: ICD10EXP:M31.0+ {source="Orphanet:375/e", source="Orphanet:375"} +xref: ICD10EXP:N08.5* {source="Orphanet:375/e", source="Orphanet:375"} xref: ICD9:446.21 {source="DOID:9808"} -xref: MedDRA:10018620 {source="ORDO:375/e", source="Orphanet:375"} +xref: MedDRA:10018620 {source="Orphanet:375/e", source="Orphanet:375"} xref: MESH:D019867 {source="EFO:0007290", source="MONDO:equivalentTo", source="DOID:9808"} xref: NCIT:C34649 {source="DOID:9808"} xref: NCIT:C84566 {source="MONDO:equivalentTo", source="DOID:9808"} -xref: OMIM:233450 {source="MONDO:equivalentTo", source="DOID:9808", source="ORDO:375/e", source="Orphanet:375"} +xref: OMIM:233450 {source="Orphanet:375/e", source="MONDO:equivalentTo", source="DOID:9808", source="Orphanet:375"} xref: Orphanet:375 {source="OMIM:233450", source="MONDO:equivalentTo"} xref: SCTID:155445002 {source="DOID:9808"} xref: SCTID:195351002 {source="DOID:9808"} @@ -175104,7 +175072,7 @@ xref: SCTID:236432001 {source="MONDO:equivalentTo"} xref: SCTID:236506009 {source="DOID:9808"} xref: SCTID:266323005 {source="DOID:9808"} xref: SCTID:50581000 {source="DOID:9808"} -xref: UMLS:C0403529 {source="NCBI:mim2gene_medline", source="OMIM:233450", source="MONDO:equivalentTo", source="DOID:9808", source="ORDO:375/e", source="Orphanet:375", source="NCIT:C84566"} +xref: UMLS:C0403529 {source="Orphanet:375/e", source="NCBI:mim2gene_medline", source="OMIM:233450", source="MONDO:equivalentTo", source="DOID:9808", source="Orphanet:375", source="NCIT:C84566"} is_a: MONDO:0007179 {source="DOID:9808", source="EFO:0007290", source="MESH:D019867", source="MONDO:Redundant", source="NCIT:C84566", source="indirect"} ! autoimmune disease relationship: disease_has_feature HP:0000099 ! Glomerulonephritis relationship: disease_has_feature HP:0002960 ! Autoimmunity @@ -175141,9 +175109,9 @@ synonym: "CCHIDG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233650] synonym: "CID due to RAG 1/2 deficiency" EXACT [Orphanet:157949] synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical, OMIM:233650] synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [Orphanet:157949] -xref: ICD10CM:D81.1 {source="Orphanet:157949", source="ORDO:157949/attributed", source="ORDO:157949/ntbt"} +xref: ICD10CM:D81.1 {source="Orphanet:157949/attributed", source="Orphanet:157949/ntbt", source="Orphanet:157949"} xref: MESH:C567115 {source="MONDO:equivalentTo"} -xref: OMIM:233650 {source="MONDO:equivalentTo", source="Orphanet:157949", source="ORDO:157949/e"} +xref: OMIM:233650 {source="Orphanet:157949/e", source="MONDO:equivalentTo", source="Orphanet:157949"} xref: Orphanet:157949 {source="MONDO:equivalentTo", source="OMIM:233650"} xref: UMLS:C2673536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233650", source="Orphanet:157949"} is_a: MONDO:0005046 ! immune system disorder @@ -175161,7 +175129,7 @@ xref: MESH:C565534 {source="MONDO:equivalentTo"} xref: OMIM:233670 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="MONDO:subClassOf", source="OMIM:233670"} xref: UMLS:C1856261 {source="NCBI:mim2gene_medline", source="OMIM:233670", source="MONDO:equivalentTo"} -is_a: MONDO:0018305 {source="MESH:C565534", source="ORDO:379/btnt"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="MESH:C565534", source="Orphanet:379/btnt"} ! chronic granulomatous disease property_value: confidence "6.142857142857142" xsd:double [Term] @@ -175265,9 +175233,9 @@ synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979] xref: GARD:0004280 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: GARD:0012604 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E88.1 {source="ORDO:1979/attributed", source="ORDO:1979/ntbt", source="Orphanet:1979"} +xref: ICD10CM:E88.1 {source="Orphanet:1979/attributed", source="Orphanet:1979/ntbt", source="Orphanet:1979"} xref: MESH:C565529 {source="MONDO:equivalentTo"} -xref: OMIM:233805 {source="MONDO:equivalentTo", source="ORDO:1979/e", source="Orphanet:1979"} +xref: OMIM:233805 {source="Orphanet:1979/e", source="MONDO:equivalentTo", source="Orphanet:1979"} xref: Orphanet:1979 {source="OMIM:233805", source="MONDO:equivalentTo"} xref: SCTID:724176001 {source="MONDO:equivalentTo"} xref: UMLS:C1856243 {source="OMIM:233805", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1979"} @@ -175287,12 +175255,12 @@ synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATE synonym: "Grubben de Cock Borghgraef syndrome" RELATED [GARD:0002576] synonym: "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" RELATED [GARD:0002576] xref: GARD:0002576 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2101", source="ORDO:2101/attributed", source="ORDO:2101/ntbt"} -xref: MESH:C537621 {source="ORDO:2101/e", source="Orphanet:2101", source="MONDO:equivalentTo"} -xref: OMIM:233810 {source="ORDO:2101/e", source="Orphanet:2101", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2101/attributed", source="Orphanet:2101/ntbt", source="Orphanet:2101"} +xref: MESH:C537621 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} +xref: OMIM:233810 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} xref: Orphanet:2101 {source="MONDO:equivalentTo", source="OMIM:233810"} xref: UMLS:C1856242 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:233810"} -xref: UMLS:C2931551 {source="ORDO:2101/e", source="Orphanet:2101", source="MONDO:equivalentTo"} +xref: UMLS:C2931551 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"} is_a: MONDO:0000508 {source="Orphanet:2101"} ! syndromic intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: confidence "8.333333333333334" xsd:double @@ -175324,11 +175292,11 @@ synonym: "Haf deficiency" RELATED [OMIM:234000] synonym: "Hageman Factor deficiency" EXACT [DOID:2231, NCIT:C26770, OMIM:234000] xref: DOID:2231 {source="MONDO:equivalentTo"} xref: GARD:0006558 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="ORDO:330/attributed", source="ORDO:330/ntbt", source="Orphanet:330"} +xref: ICD10CM:D68.2 {source="Orphanet:330/attributed", source="Orphanet:330/ntbt", source="Orphanet:330"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D005175 {source="DOID:2231", source="MONDO:equivalentTo"} xref: NCIT:C131740 {source="MONDO:equivalentTo"} -xref: OMIM:234000 {source="DOID:2231", source="MONDO:equivalentTo", source="ORDO:330/e", source="Orphanet:330"} +xref: OMIM:234000 {source="DOID:2231", source="Orphanet:330/e", source="MONDO:equivalentTo", source="Orphanet:330"} xref: Orphanet:330 {source="OMIM:234000", source="MONDO:equivalentTo"} xref: SCTID:46981006 {source="DOID:2231", source="MONDO:equivalentTo"} xref: UMLS:C0015526 {source="DOID:2231", source="NCBI:mim2gene_medline", source="OMIM:234000", source="MONDO:equivalentTo", source="NCIT:C131740", source="Orphanet:330"} @@ -175358,9 +175326,9 @@ synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonpr synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" RELATED DEPRECATED [GARD:0002582] xref: GARD:0002582 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537628 {source="MONDO:equivalentTo"} -xref: OMIM:234030 {source="MONDO:equivalentTo", source="Orphanet:1408", source="ORDO:1408/e"} +xref: OMIM:234030 {source="Orphanet:1408/e", source="MONDO:equivalentTo", source="Orphanet:1408"} xref: Orphanet:1408 {source="OMIM:234030", source="MONDO:equivalentTo"} -xref: UMLS:C1856241 {source="OMIM:234030", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1408", source="ORDO:1408/e"} +xref: UMLS:C1856241 {source="OMIM:234030", source="Orphanet:1408/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1408"} is_a: MONDO:0000508 {source="Orphanet:1408"} ! syndromic intellectual disability is_a: MONDO:0019282 {source="Orphanet:1408"} ! syndromic hair shaft abnormality relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -175397,14 +175365,14 @@ synonym: "HSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234100] synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108] xref: DOID:4534 {source="MONDO:equivalentTo"} xref: GARD:0000288 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:2108/ntbt", source="ORDO:2108/index", source="Orphanet:2108"} +xref: ICD10CM:Q87.0 {source="Orphanet:2108", source="Orphanet:2108/index", source="Orphanet:2108/ntbt"} xref: MESH:D006210 {source="DOID:4534", source="MONDO:equivalentTo"} xref: NCIT:C84746 {source="DOID:4534", source="MONDO:equivalentTo"} -xref: OMIM:234100 {source="DOID:4534", source="MONDO:equivalentTo", source="Orphanet:2108", source="ORDO:2108/e"} +xref: OMIM:234100 {source="DOID:4534", source="MONDO:equivalentTo", source="Orphanet:2108", source="Orphanet:2108/e"} xref: Orphanet:2108 {source="DOID:4534", source="OMIM:234100", source="MONDO:equivalentTo"} xref: SCTID:205417000 {source="DOID:4534"} xref: SCTID:7903009 {source="DOID:4534", source="MONDO:equivalentTo"} -xref: UMLS:C0018522 {source="NCIT:C84746", source="DOID:4534", source="OMIM:234100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2108", source="ORDO:2108/e"} +xref: UMLS:C0018522 {source="NCIT:C84746", source="DOID:4534", source="OMIM:234100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2108", source="Orphanet:2108/e"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! Mendelian disease is_a: MONDO:0019303 {source="Orphanet:2108"} ! premature aging syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2108", source="indirect"} ! syndromic intellectual disability @@ -175438,15 +175406,15 @@ synonym: "PKAN" EXACT ABBREVIATION [Orphanet:157850] synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [OMIM:234200] xref: DOID:3981 {source="MONDO:equivalentTo"} xref: GARD:0006564 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G23.0 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="ORDO:157850/specific"} +xref: ICD10CM:G23.0 {source="DOID:3981", source="Orphanet:157850", source="Orphanet:157850/e", source="Orphanet:157850/specific"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D006211 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo"} +xref: MESH:D006211 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"} xref: NCIT:C84988 {source="DOID:3981", source="MONDO:equivalentTo"} xref: NCIT:C8967 {source="DOID:3981"} -xref: OMIM:234200 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo"} +xref: OMIM:234200 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"} xref: Orphanet:157850 {source="DOID:3981", source="MONDO:equivalentTo", source="OMIM:234200"} xref: SCTID:2992000 {source="DOID:3981", source="MONDO:equivalentTo"} -xref: UMLS:C0018523 {source="ORDO:157850/e", source="DOID:3981", source="Orphanet:157850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234200"} +xref: UMLS:C0018523 {source="DOID:3981", source="Orphanet:157850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234200", source="Orphanet:157850/e"} is_a: MONDO:0016987 {source="Orphanet:157850"} ! neuroacanthocytosis is_a: MONDO:0017760 {source="Orphanet:157850"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -175465,12 +175433,12 @@ synonym: "Hall Riggs mental retardation syndrome" RELATED DEPRECATED [GARD:00025 synonym: "HALL-Riggs intellectual disability syndrome" RELATED [OMIM:234250] synonym: "HALL-Riggs mental retardation syndrome" RELATED DEPRECATED [OMIM:234250] xref: GARD:0002586 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2107/attributed", source="ORDO:2107/ntbt", source="Orphanet:2107"} +xref: ICD10CM:Q87.8 {source="Orphanet:2107", source="Orphanet:2107/attributed", source="Orphanet:2107/ntbt"} xref: MESH:C535623 {source="MONDO:equivalentTo"} -xref: OMIM:234250 {source="MONDO:equivalentTo", source="ORDO:2107/e", source="Orphanet:2107"} +xref: OMIM:234250 {source="MONDO:equivalentTo", source="Orphanet:2107", source="Orphanet:2107/e"} xref: Orphanet:2107 {source="OMIM:234250", source="MONDO:equivalentTo"} xref: SCTID:721008000 {source="MONDO:equivalentTo"} -xref: UMLS:C1856198 {source="OMIM:234250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2107/e", source="Orphanet:2107"} +xref: UMLS:C1856198 {source="OMIM:234250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2107", source="Orphanet:2107/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2107", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2107"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -175485,9 +175453,9 @@ synonym: "hallux varus and preaxial polysyndactyly" RELATED [OMIM:234280] synonym: "Kleiner Holmes syndrome" RELATED [GARD:0003118] synonym: "Kleiner-Holmes syndrome" EXACT [Orphanet:2110] xref: GARD:0003118 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q74.2 {source="Orphanet:2110", source="ORDO:2110/attributed", source="ORDO:2110/ntbt"} +xref: ICD10CM:Q74.2 {source="Orphanet:2110", source="Orphanet:2110/attributed", source="Orphanet:2110/ntbt"} xref: MESH:C536885 {source="MONDO:equivalentTo"} -xref: OMIM:234280 {source="Orphanet:2110", source="MONDO:equivalentTo", source="ORDO:2110/e"} +xref: OMIM:234280 {source="Orphanet:2110", source="MONDO:equivalentTo", source="Orphanet:2110/e"} xref: Orphanet:2110 {source="MONDO:equivalentTo", source="OMIM:234280"} xref: UMLS:C1856197 {source="Orphanet:2110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:234280"} is_a: MONDO:0019054 {source="Orphanet:2110"} ! congenital limb malformation @@ -175527,16 +175495,16 @@ synonym: "neutral 1 amino acid transport defect" EXACT [] synonym: "neutral amino acid transport defect" EXACT [DOID:1060] xref: DOID:1060 {source="MONDO:equivalentTo"} xref: GARD:0006569 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="ORDO:2116/ntbt", source="Orphanet:2116", source="ORDO:2116/inclusion"} +xref: ICD10CM:E72.0 {source="Orphanet:2116/inclusion", source="Orphanet:2116", source="Orphanet:2116/ntbt"} xref: ICD10CM:E72.02 {source="DOID:1060"} -xref: MedDRA:10019165 {source="ORDO:2116/e", source="Orphanet:2116"} -xref: MESH:D006250 {source="ORDO:2116/e", source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060"} +xref: MedDRA:10019165 {source="Orphanet:2116", source="Orphanet:2116/e"} +xref: MESH:D006250 {source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060", source="Orphanet:2116/e"} xref: NCIT:C84748 {source="MONDO:equivalentTo", source="DOID:1060"} -xref: OMIM:234500 {source="ORDO:2116/e", source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060"} +xref: OMIM:234500 {source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060", source="Orphanet:2116/e"} xref: Orphanet:2116 {source="MONDO:equivalentTo", source="OMIM:234500"} xref: SCTID:124208000 {source="DOID:1060"} xref: SCTID:80902009 {source="MONDO:equivalentTo", source="DOID:1060"} -xref: UMLS:C0018609 {source="NCIT:C84748", source="ORDO:2116/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2116", source="OMIM:234500", source="DOID:1060"} +xref: UMLS:C0018609 {source="NCIT:C84748", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2116", source="OMIM:234500", source="DOID:1060", source="Orphanet:2116/e"} is_a: MONDO:0004736 {source="DOID:1060"} ! inherited amino acid metabolic disorder is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder is_a: MONDO:0015951 {source="Orphanet:2116"} ! hereditary photodermatosis @@ -175568,18 +175536,18 @@ synonym: "congenital atrioventricular block" EXACT [Orphanet:60041] synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700] xref: DOID:990 {source="MONDO:equivalentTo"} xref: GARD:0006164 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q24.6 {source="MONDO:equivalentTo", source="ORDO:60041/specific", source="DOID:990", source="ORDO:60041/e", source="Orphanet:60041"} +xref: ICD10CM:Q24.6 {source="Orphanet:60041/specific", source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} xref: ICD9:746.86 {source="MONDO:equivalentTo", source="i2s", source="DOID:990"} -xref: MedDRA:10019263 {source="ORDO:60041/e", source="Orphanet:60041"} -xref: MESH:C535758 {source="MONDO:equivalentTo", source="DOID:990", source="ORDO:60041/e", source="Orphanet:60041"} -xref: OMIM:234700 {source="MONDO:equivalentTo", source="DOID:990", source="ORDO:60041/e", source="Orphanet:60041"} +xref: MedDRA:10019263 {source="Orphanet:60041/e", source="Orphanet:60041"} +xref: MESH:C535758 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} +xref: OMIM:234700 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} xref: Orphanet:60041 {source="MONDO:equivalentTo", source="OMIM:234700"} xref: SCTID:156924006 {source="DOID:990"} xref: SCTID:204381004 {source="DOID:990"} xref: SCTID:204382006 {source="DOID:990"} xref: SCTID:204385008 {source="DOID:990"} xref: SCTID:46619002 {source="MONDO:equivalentTo", source="DOID:990"} -xref: UMLS:C0149530 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:990", source="OMIM:234700", source="ORDO:60041/e", source="Orphanet:60041"} +xref: UMLS:C0149530 {source="Orphanet:60041/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:990", source="OMIM:234700", source="Orphanet:60041"} xref: UMLS:C3884338 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:60041"} is_a: MONDO:0000465 {source="DOID:990"} ! atrioventricular block relationship: excluded_subClassOf MONDO:0015110 {source="Orphanet:60041"} ! genetic cardiac rhythm disease @@ -175621,13 +175589,13 @@ synonym: "pulmonary capillary hemangiomatosis" BROAD [Orphanet:199241] synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:234810] synonym: "PVOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234810] xref: GARD:0008527 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D18.0 {source="Orphanet:199241", source="ORDO:199241/attributed", source="ORDO:199241/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:199241", source="Orphanet:199241/attributed", source="Orphanet:199241/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535861 {source="Orphanet:199241", source="MONDO:equivalentTo", source="ORDO:199241/e"} -xref: OMIM:234810 {source="Orphanet:199241", source="MONDO:equivalentTo", source="ORDO:199241/e"} +xref: MESH:C535861 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} +xref: OMIM:234810 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} xref: Orphanet:199241 {source="MONDO:equivalentTo", source="OMIM:234810"} xref: SCTID:233949008 {source="MONDO:equivalentTo"} -xref: UMLS:C0340548 {source="Orphanet:199241", source="MONDO:equivalentTo", source="ORDO:199241/e"} +xref: UMLS:C0340548 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"} xref: UMLS:C0340848 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:234810"} is_a: MONDO:0009937 {source="OMIM:234810"} ! pulmonary venoocclusive disease is_a: MONDO:0018554 {source="MONDO:Redundant", source="Orphanet:199241", source="indirect"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis @@ -175650,7 +175618,7 @@ xref: OMIM:234820 {source="MONDO:equivalentTo"} xref: Orphanet:2126 {source="MONDO:subClassOf", source="OMIM:234820"} xref: UMLS:C0334542 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4301", source="OMIM:234820"} is_a: MONDO:0005094 {source="MESH:C562740", source="NCIT:C4301"} ! hemangiopericytoma -is_a: MONDO:0016238 {source="ORDO:2126/btnt"} ! solitary fibrous tumor +is_a: MONDO:0016238 {source="Orphanet:2126/btnt"} ! solitary fibrous tumor property_value: confidence "28.000000000000053" xsd:double [Term] @@ -175668,12 +175636,12 @@ synonym: "hemihypertrophy, isolated" RELATED [OMIM:235000] synonym: "IH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235000] synonym: "isolated hemihypertrophy" EXACT [Orphanet:2128] xref: GARD:0002630 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.3 {source="ORDO:2128/attributed", source="ORDO:2128/ntbt", source="Orphanet:2128"} -xref: MedDRA:10019463 {source="Orphanet:2128", source="ORDO:2128/e"} +xref: ICD10CM:Q87.3 {source="Orphanet:2128", source="Orphanet:2128/attributed", source="Orphanet:2128/ntbt"} +xref: MedDRA:10019463 {source="Orphanet:2128", source="Orphanet:2128/e"} xref: MESH:C565524 {source="MONDO:equivalentTo"} -xref: OMIM:235000 {source="MONDO:equivalentTo", source="Orphanet:2128", source="ORDO:2128/e"} +xref: OMIM:235000 {source="MONDO:equivalentTo", source="Orphanet:2128", source="Orphanet:2128/e"} xref: Orphanet:2128 {source="OMIM:235000", source="MONDO:equivalentTo"} -xref: UMLS:C0332890 {source="Orphanet:2128", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2128/e"} +xref: UMLS:C0332890 {source="Orphanet:2128", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2128/e"} xref: UMLS:C1856184 {source="OMIM:235000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2128"} xref: UMLS:C1856185 {source="OMIM:235000", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019716 {source="Orphanet:2128"} ! overgrowth syndrome @@ -175705,7 +175673,7 @@ synonym: "renal and craniofacial anomalies with persistence of mullerian derivat synonym: "Urioste syndrome" RELATED [OMIM:235255] xref: GARD:0005430 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536478 {source="MONDO:equivalentTo"} -xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="ORDO:1655/e"} +xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="Orphanet:1655/e"} xref: Orphanet:1655 {source="OMIM:235255", source="MONDO:equivalentTo"} xref: UMLS:C1856159 {source="OMIM:235255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema @@ -175720,7 +175688,7 @@ xref: MESH:C565522 {source="MONDO:equivalentTo"} xref: OMIM:235370 {source="MONDO:equivalentTo"} xref: Orphanet:288 {source="MONDO:subClassOf", source="OMIM:235370"} xref: UMLS:C1856158 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235370"} -is_a: MONDO:0017319 {source="ORDO:288/btnt"} ! hereditary elliptocytosis +is_a: MONDO:0017319 {source="Orphanet:288/btnt"} ! hereditary elliptocytosis property_value: confidence "0.8993352326685662" xsd:double [Term] @@ -175753,7 +175721,7 @@ synonym: "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" EXACT [ xref: OMIM:235500 {source="MONDO:equivalentTo"} xref: Orphanet:99931 {source="MONDO:subClassOf", source="OMIM:235500"} xref: UMLS:C0020807 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:235500"} -is_a: MONDO:0008346 {source="ORDO:99931/btnt"} ! pulmonary hemosiderosis +is_a: MONDO:0008346 {source="Orphanet:99931/btnt"} ! pulmonary hemosiderosis property_value: confidence "2.350933786078099" xsd:double [Term] @@ -175790,9 +175758,9 @@ synonym: "veno-occlusive disease and immunodeficiency syndrome" RELATED [MESH:C5 synonym: "VODI" RELATED ABBREVIATION [GARD:0010083, MESH:C537257, MONDO:Lexical, OMIM:235550] synonym: "VODI syndrome" EXACT [Orphanet:79124] xref: GARD:0010083 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.5 {source="MONDO:subClassOf", source="ORDO:79124/attributed", source="ORDO:79124/ntbt", source="Orphanet:79124"} +xref: ICD10CM:K76.5 {source="MONDO:subClassOf", source="Orphanet:79124/attributed", source="Orphanet:79124/ntbt", source="Orphanet:79124"} xref: MESH:C537257 {source="MONDO:equivalentTo"} -xref: OMIM:235550 {source="MONDO:equivalentTo", source="ORDO:79124/e", source="GARD:0010083", source="Orphanet:79124"} +xref: OMIM:235550 {source="Orphanet:79124/e", source="MONDO:equivalentTo", source="GARD:0010083", source="Orphanet:79124"} xref: Orphanet:79124 {source="OMIM:235550", source="MONDO:equivalentTo", source="GARD:0010083"} xref: SCTID:724361001 {source="MONDO:equivalentTo"} xref: UMLS:C1856128 {source="OMIM:235550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010083", source="Orphanet:79124"} @@ -175822,11 +175790,11 @@ synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MON synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045] xref: DOID:0111069 {source="MONDO:equivalentTo"} xref: GARD:0010045 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K76.8 {source="Orphanet:79303", source="DOID:0111069", source="ORDO:79303/attributed", source="ORDO:79303/ntbt"} -xref: MESH:C535443 {source="Orphanet:79303", source="MONDO:equivalentTo", source="DOID:0111069", source="ORDO:79303/e"} -xref: OMIM:235555 {source="Orphanet:79303", source="MONDO:equivalentTo", source="DOID:0111069", source="ORDO:79303/e"} +xref: ICD10CM:K76.8 {source="Orphanet:79303", source="Orphanet:79303/attributed", source="Orphanet:79303/ntbt", source="DOID:0111069"} +xref: MESH:C535443 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"} +xref: OMIM:235555 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"} xref: Orphanet:79303 {source="MONDO:equivalentTo", source="OMIM:235555", source="DOID:0111069"} -xref: UMLS:C1856127 {source="Orphanet:79303", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235555", source="DOID:0111069", source="ORDO:79303/e"} +xref: UMLS:C1856127 {source="Orphanet:79303", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="OMIM:235555", source="DOID:0111069"} is_a: MONDO:0018841 {source="DC-OMIM:235555", source="DOID:0111069", source="MONDO:Redundant", source="OMIM:235555", source="Orphanet:79303"} ! congenital bile acid synthesis defect intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/388 ! AKR1D1 @@ -175846,9 +175814,9 @@ synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATE synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672] synonym: "nonspherocytic hemolytic anemia due to hexokinase deficiency" RELATED [GARD:0003672] xref: GARD:0003672 {source="MONDO:equivalentTo"} -xref: ICD10CM:D55.2 {source="Orphanet:90031", source="ORDO:90031/inclusion", source="ORDO:90031/ntbt"} +xref: ICD10CM:D55.2 {source="Orphanet:90031/inclusion", source="Orphanet:90031", source="Orphanet:90031/ntbt"} xref: MESH:C562995 {source="MONDO:equivalentTo"} -xref: OMIM:235700 {source="ORDO:90031/e", source="Orphanet:90031", source="MONDO:equivalentTo", source="GARD:0003672"} +xref: OMIM:235700 {source="Orphanet:90031", source="MONDO:equivalentTo", source="Orphanet:90031/e", source="GARD:0003672"} xref: Orphanet:90031 {source="MONDO:equivalentTo", source="OMIM:235700", source="GARD:0003672"} xref: UMLS:C0472792 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0003672"} xref: UMLS:C3150343 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:235700"} @@ -175878,14 +175846,14 @@ synonym: "Mowat-Wilson syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:23 synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235730] xref: DOID:0060485 {source="MONDO:equivalentTo"} xref: GARD:0009673 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q43.1 {source="ORDO:2152/attributed", source="ORDO:2152/ntbt", source="Orphanet:2152"} +xref: ICD10CM:Q43.1 {source="Orphanet:2152/attributed", source="Orphanet:2152/ntbt", source="Orphanet:2152"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536990 {source="DOID:0060485", source="MONDO:equivalentTo", source="ORDO:2152/e", source="Orphanet:2152"} +xref: MESH:C536990 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"} xref: NCIT:C74999 {source="DOID:0060485", source="MONDO:equivalentTo"} -xref: OMIM:235730 {source="DOID:0060485", source="MONDO:equivalentTo", source="ORDO:2152/e", source="Orphanet:2152"} +xref: OMIM:235730 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"} xref: Orphanet:2152 {source="DOID:0060485", source="MONDO:equivalentTo", source="OMIM:235730"} xref: SCTID:703535000 {source="DOID:0060485", source="MONDO:equivalentTo"} -xref: UMLS:C1856113 {source="DOID:0060485", source="NCIT:C74999", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235730", source="ORDO:2152/e", source="Orphanet:2152"} +xref: UMLS:C1856113 {source="DOID:0060485", source="NCIT:C74999", source="NCBI:mim2gene_medline", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="OMIM:235730", source="Orphanet:2152"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2152", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:0060485", source="MONDO:Redundant", source="NCIT:C74999", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -175908,13 +175876,13 @@ synonym: "Hirschsprung disease-deafness-polydactyly syndrome" NARROW [Orphanet:2 synonym: "Santos Mateus Leal syndrome" RELATED [GARD:0000157] synonym: "Santos-Mateus-Leal syndrome" EXACT [Orphanet:2155] xref: GARD:0000157 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q43.1 {source="Orphanet:2155", source="ORDO:2155/attributed", source="ORDO:2155/ntbt"} +xref: ICD10CM:Q43.1 {source="Orphanet:2155", source="Orphanet:2155/attributed", source="Orphanet:2155/ntbt"} xref: MESH:C565518 {source="MONDO:equivalentTo"} -xref: OMIM:235740 {source="Orphanet:2155", source="ORDO:2155/e", source="MONDO:equivalentTo"} +xref: OMIM:235740 {source="Orphanet:2155", source="MONDO:equivalentTo", source="Orphanet:2155/e"} xref: Orphanet:2155 {source="MONDO:equivalentTo", source="OMIM:235740"} xref: SCTID:721221000 {source="MONDO:equivalentTo"} xref: UMLS:C1856112 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:235740"} -xref: UMLS:C2931452 {source="Orphanet:2155", source="ORDO:2155/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931452 {source="Orphanet:2155", source="Orphanet:2155/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015161 {source="Orphanet:2155", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:2155"} ! syndromic anorectal malformation is_a: MONDO:0019589 {source="Orphanet:2155"} ! syndromic genetic hearing loss @@ -175948,9 +175916,9 @@ synonym: "Al-Gazali-Donnai-Mueller syndrome" RELATED [GARD:0000584] synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [OMIM:235760] synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" RELATED [GARD:0000584] xref: GARD:0000584 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q43.1 {source="ORDO:2153/attributed", source="ORDO:2153/ntbt", source="Orphanet:2153"} +xref: ICD10CM:Q43.1 {source="Orphanet:2153/attributed", source="Orphanet:2153/ntbt", source="Orphanet:2153"} xref: MESH:C535615 {source="MONDO:equivalentTo"} -xref: OMIM:235760 {source="MONDO:equivalentTo", source="Orphanet:2153", source="ORDO:2153/e"} +xref: OMIM:235760 {source="Orphanet:2153/e", source="MONDO:equivalentTo", source="Orphanet:2153"} xref: Orphanet:2153 {source="OMIM:235760", source="MONDO:equivalentTo"} xref: SCTID:721223002 {source="MONDO:equivalentTo"} xref: UMLS:C1856110 {source="NCBI:mim2gene_medline", source="OMIM:235760", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2153"} @@ -175971,20 +175939,19 @@ synonym: "Hal deficiency" EXACT [Orphanet:2157] synonym: "HIS deficiency" EXACT [Orphanet:2157] synonym: "histidase deficiency" EXACT [OMIM:235800, Orphanet:2157] synonym: "histidine ammonia-lyase deficiency" EXACT [OMIM:235800, Orphanet:2157] -synonym: "histidinemia" EXACT CLINGEN_PREFERRED [OMIM:235800] -synonym: "histidinemia" EXACT [OMIM:235800, OMIM:genemap2] +synonym: "histidinemia" EXACT CLINGEN_PREFERRED [OMIM:235800, OMIM:genemap2] synonym: "Histidinuria" EXACT [Orphanet:2157] synonym: "histidinuria" EXACT [DOID:0060168] synonym: "hyperhistidinemia" EXACT [Orphanet:2157] xref: DOID:0060168 {source="MONDO:equivalentTo"} xref: GARD:0006661 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.41 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.8 {source="Orphanet:2157", source="ORDO:2157/attributed", source="ORDO:2157/ntbt"} -xref: MESH:C538320 {source="Orphanet:2157", source="ORDO:2157/e", source="MONDO:equivalentTo"} -xref: OMIM:235800 {source="Orphanet:2157", source="ORDO:2157/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E70.8 {source="Orphanet:2157", source="Orphanet:2157/attributed", source="Orphanet:2157/ntbt"} +xref: MESH:C538320 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"} +xref: OMIM:235800 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"} xref: Orphanet:2157 {source="MONDO:equivalentTo", source="OMIM:235800"} xref: SCTID:410058007 {source="MONDO:equivalentTo"} -xref: UMLS:C0220992 {source="Orphanet:2157", source="ORDO:2157/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:235800"} +xref: UMLS:C0220992 {source="Orphanet:2157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2157/e", source="OMIM:235800"} xref: UMLS:C0268642 {source="Orphanet:2157", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004738 {source="DOID:0060168"} ! histidine metabolism disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4806 {source="mim2gene_medgen"} ! HAL @@ -175999,7 +175966,7 @@ subset: ordo_disease synonym: "histidinuria due to a renal tubular defect" EXACT [OMIM:235830] synonym: "histidinuria-renal tubular defect syndrome" EXACT [Orphanet:2158] xref: GARD:0002708 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E70.8 {source="MONDO:subClassOf", source="ORDO:Attributed", source="Orphanet:2158"} +xref: ICD10CM:E70.8 {source="MONDO:subClassOf", source="Orphanet:2158", source="Orphanet:Attributed"} xref: MESH:C538321 {source="Orphanet:2158", source="MONDO:equivalentTo"} xref: OMIM:235830 {source="Orphanet:2158", source="MONDO:equivalentTo"} xref: Orphanet:2158 {source="MONDO:equivalentTo", source="OMIM:235830"} @@ -176032,17 +175999,17 @@ synonym: "classical Hodgkin's lymphoma" EXACT [NCIT:C7164] synonym: "Hodgkin disease" RELATED [OMIM:236000] synonym: "Hodgkin lymphoma, susceptibility to" EXACT [OMIM:236000, OMIM:genemap2] synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical, OMIM:236000] -xref: ICD10CM:C81.0 {source="ORDO:391/btnt", source="Orphanet:391"} -xref: ICD10CM:C81.1 {source="ORDO:391/btnt", source="Orphanet:391"} -xref: ICD10CM:C81.2 {source="ORDO:391/btnt", source="Orphanet:391"} -xref: ICD10CM:C81.3 {source="ORDO:391/btnt", source="Orphanet:391"} -xref: ICD10CM:C81.4 {source="ORDO:391/btnt", source="Orphanet:391"} -xref: ICD10CM:C81.7 {source="ORDO:391/btnt", source="Orphanet:391"} -xref: ICD10CM:C81.9 {source="ORDO:391/btnt", source="Orphanet:391"} +xref: ICD10CM:C81.0 {source="Orphanet:391", source="Orphanet:391/btnt"} +xref: ICD10CM:C81.1 {source="Orphanet:391", source="Orphanet:391/btnt"} +xref: ICD10CM:C81.2 {source="Orphanet:391", source="Orphanet:391/btnt"} +xref: ICD10CM:C81.3 {source="Orphanet:391", source="Orphanet:391/btnt"} +xref: ICD10CM:C81.4 {source="Orphanet:391", source="Orphanet:391/btnt"} +xref: ICD10CM:C81.7 {source="Orphanet:391", source="Orphanet:391/btnt"} +xref: ICD10CM:C81.9 {source="Orphanet:391", source="Orphanet:391/btnt"} xref: NCIT:C7164 {source="MONDO:equivalentTo"} -xref: OMIM:236000 {source="ORDO:391/e", source="MONDO:equivalentTo", source="Orphanet:391"} -xref: OMIM:300221 {source="ORDO:391/btnt", source="Orphanet:391", source="MONDO:directSiblingOf"} -xref: OMIM:400021 {source="ORDO:391/btnt", source="Orphanet:391", source="MONDO:directSiblingOf"} +xref: OMIM:236000 {source="MONDO:equivalentTo", source="Orphanet:391", source="Orphanet:391/e"} +xref: OMIM:300221 {source="Orphanet:391", source="MONDO:directSiblingOf", source="Orphanet:391/btnt"} +xref: OMIM:400021 {source="Orphanet:391", source="MONDO:directSiblingOf", source="Orphanet:391/btnt"} xref: ONCOTREE:CHL {source="MONDO:equivalentTo"} xref: Orphanet:391 {source="OMIM:236000", source="MONDO:equivalentTo"} xref: UMLS:C0019829 {source="OMIM:236000", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -176069,7 +176036,7 @@ synonym: "Hpe, familial" BROAD [OMIM:236100] synonym: "HPE1" EXACT ABBREVIATION [DOID:0110881, MONDO:Lexical, OMIM:236100] synonym: "isolated arhinencephaly" RELATED [Orphanet:268936] xref: DOID:0110881 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.1 {source="ORDO:268936/e", source="Orphanet:268936"} +xref: ICD10CM:Q04.1 {source="Orphanet:268936/e", source="Orphanet:268936"} xref: NCIT:C75476 {source="MONDO:equivalentTo"} xref: OMIM:236100 {source="MONDO:equivalentTo", source="DOID:0110881"} xref: Orphanet:2162 {source="MONDO:subClassOf", source="OMIM:236100"} @@ -176094,11 +176061,11 @@ synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110] synonym: "Holzgreve Wagner Rehder syndrome" EXACT [DOID:0060566] xref: DOID:0060566 {source="MONDO:equivalentTo"} xref: GARD:0002728 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2167", source="DOID:0060566", source="ORDO:2167/attributed", source="ORDO:2167/ntbt"} -xref: MESH:C535327 {source="ORDO:2167/e", source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566"} -xref: OMIM:236110 {source="ORDO:2167/e", source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566"} +xref: ICD10CM:Q87.8 {source="Orphanet:2167/attributed", source="Orphanet:2167/ntbt", source="Orphanet:2167", source="DOID:0060566"} +xref: MESH:C535327 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} +xref: OMIM:236110 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} xref: Orphanet:2167 {source="OMIM:236110", source="MONDO:equivalentTo"} -xref: UMLS:C1856095 {source="ORDO:2167/e", source="OMIM:236110", source="Orphanet:2167", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060566"} +xref: UMLS:C1856095 {source="OMIM:236110", source="Orphanet:2167", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"} is_a: MONDO:0002254 {source="DOID:0060566"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2167", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2167"} ! orofacial clefting syndrome @@ -176114,13 +176081,13 @@ synonym: "Homocarnosinase deficiency" EXACT [OMIM:236130, Orphanet:2168] synonym: "homocarnosinosis" EXACT [OMIM:236130] xref: DOID:0060177 {source="MONDO:equivalentTo"} xref: GARD:0002730 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:2168", source="ORDO:2168/attributed", source="ORDO:2168/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:2168", source="Orphanet:2168/attributed", source="Orphanet:2168/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535328 {source="Orphanet:2168", source="ORDO:2168/e", source="MONDO:equivalentTo"} -xref: OMIM:236130 {source="Orphanet:2168", source="ORDO:2168/e", source="MONDO:equivalentTo"} +xref: MESH:C535328 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"} +xref: OMIM:236130 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"} xref: Orphanet:2168 {source="OMIM:236130", source="MONDO:equivalentTo"} xref: SCTID:61764000 {source="MONDO:equivalentTo"} -xref: UMLS:C0268632 {source="OMIM:236130", source="Orphanet:2168", source="ORDO:2168/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0268632 {source="OMIM:236130", source="Orphanet:2168", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2168/e"} xref: UMLS:C3495554 {source="Orphanet:2168", source="MONDO:equivalentTo"} is_a: MONDO:0000698 {source="DOID:0060177"} ! gamma-amino butyric acid metabolism disorder is_a: MONDO:0004736 {source="DOID:0060177/inferred", source="MESH:C535328", source="MONDO:Redundant", source="indirect"} ! inherited amino acid metabolic disorder @@ -176143,12 +176110,12 @@ synonym: "homocystinuria, B6-responsive and nonresponsive types" EXACT [OMIM:236 synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [OMIM:236200] synonym: "thrombosis, hyperhomocysteinemic" EXACT [OMIM:236200, OMIM:genemap2] xref: GARD:0006667 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="ORDO:394/ntbt", source="Orphanet:394", source="ORDO:394/inclusion"} -xref: MedDRA:10071093 {source="ORDO:394/e", source="Orphanet:394"} -xref: OMIM:236200 {source="GARD:0006667", source="MONDO:equivalentTo", source="ORDO:394/e", source="Orphanet:394"} +xref: ICD10CM:E72.1 {source="Orphanet:394/inclusion", source="Orphanet:394/ntbt", source="Orphanet:394"} +xref: MedDRA:10071093 {source="Orphanet:394/e", source="Orphanet:394"} +xref: OMIM:236200 {source="Orphanet:394/e", source="GARD:0006667", source="MONDO:equivalentTo", source="Orphanet:394"} xref: Orphanet:394 {source="GARD:0006667", source="OMIM:236200", source="MONDO:equivalentTo"} xref: SCTID:24308003 {source="MONDO:equivalentTo"} -xref: UMLS:C0751202 {source="GARD:0006667", source="MONDO:equivalentTo", source="ORDO:394/e", source="Orphanet:394"} +xref: UMLS:C0751202 {source="Orphanet:394/e", source="GARD:0006667", source="MONDO:equivalentTo", source="Orphanet:394"} xref: UMLS:C1439329 {source="OMIM:236200", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3150344 {source="NCBI:mim2gene_medline", source="OMIM:236200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004737 {source="DC-OMIM:236200"} ! homocystinuria @@ -176180,9 +176147,9 @@ synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [OMIM:236250] synonym: "MTHFR deficiency" EXACT [OMIM:236250, Orphanet:395] synonym: "MTHFR deficiency, thermolabile type" RELATED [OMIM:236250] xref: GARD:0002734 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="ORDO:395/ntbt", source="Orphanet:395", source="ORDO:395/inclusion"} +xref: ICD10CM:E72.1 {source="Orphanet:395/inclusion", source="Orphanet:395", source="Orphanet:395/ntbt"} xref: MESH:C537357 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:236250 {source="MONDO:equivalentTo", source="ORDO:395/e", source="Orphanet:395"} +xref: OMIM:236250 {source="Orphanet:395/e", source="MONDO:equivalentTo", source="Orphanet:395"} xref: Orphanet:395 {source="MONDO:equivalentTo", source="OMIM:236250"} xref: SCTID:41797007 {source="MONDO:equivalentTo"} xref: UMLS:C1856058 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:236250"} @@ -176213,10 +176180,10 @@ synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [OMIM:236270 xref: DOID:0050732 {source="EFO:0005568", source="MONDO:equivalentTo"} xref: EFO:0005568 {source="MONDO:equivalentTo"} xref: GARD:0002732 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="Orphanet:2169", source="ORDO:2169/attributed", source="ORDO:2169/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:2169/attributed", source="Orphanet:2169/ntbt", source="Orphanet:2169"} xref: MESH:C565510 {source="MONDO:equivalentTo"} xref: NCIT:C142173 {source="MONDO:equivalentTo"} -xref: OMIM:236270 {source="ORDO:2169/e", source="Orphanet:2169", source="MONDO:equivalentTo"} +xref: OMIM:236270 {source="Orphanet:2169", source="MONDO:equivalentTo", source="Orphanet:2169/e"} xref: Orphanet:2169 {source="MONDO:equivalentTo", source="OMIM:236270"} xref: Orphanet:622 {source="MONDO:subClassOf", source="OMIM:236270"} xref: UMLS:C1856057 {source="NCBI:mim2gene_medline", source="Orphanet:2169", source="MONDO:equivalentTo", source="OMIM:236270"} @@ -176323,7 +176290,7 @@ xref: Orphanet:2185 {source="MONDO:subClassOf", source="OMIM:236600"} xref: UMLS:C0020255 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:236600"} xref: UMLS:C1531647 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:236600"} xref: UMLS:C3887608 {source="MONDO:equivalentTo"} -is_a: MONDO:0016349 {source="MONDO:Redundant", source="ORDO:2185/btnt"} ! congenital hydrocephalus +is_a: MONDO:0016349 {source="MONDO:Redundant", source="Orphanet:2185/btnt"} ! congenital hydrocephalus intersection_of: MONDO:0016349 ! congenital hydrocephalus intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19967 ! CCDC88C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19967 {source="mim2gene_medgen"} ! CCDC88C @@ -176355,9 +176322,9 @@ synonym: "game-Friedman-Paradice syndrome" EXACT [Orphanet:3035] synonym: "hydrocephalus with associated malformations" RELATED [OMIM:236640] synonym: "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" RELATED [GARD:0002427] xref: GARD:0002427 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3035", source="ORDO:3035/attributed", source="ORDO:3035/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3035", source="Orphanet:3035/attributed", source="Orphanet:3035/ntbt"} xref: MESH:C535406 {source="MONDO:equivalentTo"} -xref: OMIM:236640 {source="Orphanet:3035", source="ORDO:3035/e", source="MONDO:equivalentTo"} +xref: OMIM:236640 {source="Orphanet:3035", source="MONDO:equivalentTo", source="Orphanet:3035/e"} xref: Orphanet:3035 {source="OMIM:236640", source="MONDO:equivalentTo"} xref: SCTID:716198008 {source="MONDO:equivalentTo"} xref: UMLS:C1856052 {source="Orphanet:3035", source="NCBI:mim2gene_medline", source="OMIM:236640", source="MONDO:equivalentTo"} @@ -176378,12 +176345,12 @@ synonym: "hydrocephalus, tall stature, joint laxity and kyphoscoliosis" RELATED synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [OMIM:236660] synonym: "hydrocephaly - tall stature - joint laxity" RELATED [GARD:0001666] xref: GARD:0001666 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2181/attributed", source="ORDO:2181/ntbt", source="Orphanet:2181"} +xref: ICD10CM:Q87.8 {source="Orphanet:2181/attributed", source="Orphanet:2181/ntbt", source="Orphanet:2181"} xref: MESH:C535770 {source="MONDO:equivalentTo"} -xref: OMIM:236660 {source="MONDO:equivalentTo", source="ORDO:2181/e", source="Orphanet:2181"} +xref: OMIM:236660 {source="Orphanet:2181/e", source="MONDO:equivalentTo", source="Orphanet:2181"} xref: Orphanet:2181 {source="OMIM:236660", source="MONDO:equivalentTo"} xref: SCTID:732926009 {source="MONDO:equivalentTo"} -xref: UMLS:C1856051 {source="OMIM:236660", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2181/e", source="Orphanet:2181"} +xref: UMLS:C1856051 {source="Orphanet:2181/e", source="OMIM:236660", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2181"} is_a: MONDO:0015161 {source="Orphanet:2181", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2181", source="Orphanet:2181/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2181"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -176453,15 +176420,15 @@ synonym: "low pressure hydrocephalus" EXACT [DOID:1572] synonym: "NPH" EXACT ABBREVIATION [Orphanet:314928] xref: DOID:1572 {source="EFO:1001065", source="MONDO:equivalentTo"} xref: EFO:1001065 {source="MONDO:equivalentTo"} -xref: ICD10CM:G91.2 {source="DOID:1572", source="Orphanet:314928", source="ORDO:314928/e"} +xref: ICD10CM:G91.2 {source="Orphanet:314928/e", source="DOID:1572", source="Orphanet:314928"} xref: ICD9:331.5 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10029773 {source="EFO:1001065", source="Orphanet:314928", source="ORDO:314928/e"} +xref: MedDRA:10029773 {source="Orphanet:314928/e", source="EFO:1001065", source="Orphanet:314928"} xref: MESH:D006850 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo"} xref: OMIM:236690 {source="DOID:1572", source="MONDO:equivalentTo"} xref: Orphanet:314928 {source="MONDO:equivalentTo"} xref: SCTID:30753002 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo"} xref: SCTID:69663004 {source="DOID:1572"} -xref: UMLS:C0020258 {source="DOID:1572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:314928", source="ORDO:314928/e", source="OMIM:236690"} +xref: UMLS:C0020258 {source="Orphanet:314928/e", source="DOID:1572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:314928", source="OMIM:236690"} is_a: MONDO:0002045 {source="DOID:1572", source="linkedlifedata", source="linkedlifedata/inferred"} ! communicating hydrocephalus relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.5294117647058827" xsd:double @@ -176484,14 +176451,14 @@ synonym: "McKusick-Kaufman syndrome" EXACT [MONDO:Lexical, OMIM:236700] synonym: "MKKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236700] xref: DOID:0111255 {source="MONDO:equivalentTo"} xref: GARD:0003427 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2473", source="ORDO:2473/attributed", source="ORDO:2473/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2473", source="Orphanet:2473/attributed", source="Orphanet:2473/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10052312 {source="Orphanet:2473", source="ORDO:2473/e"} -xref: MESH:C538159 {source="Orphanet:2473", source="MONDO:equivalentTo", source="ORDO:2473/e"} -xref: OMIM:236700 {source="Orphanet:2473", source="MONDO:equivalentTo", source="ORDO:2473/e"} +xref: MedDRA:10052312 {source="Orphanet:2473", source="Orphanet:2473/e"} +xref: MESH:C538159 {source="Orphanet:2473", source="MONDO:equivalentTo", source="Orphanet:2473/e"} +xref: OMIM:236700 {source="Orphanet:2473", source="MONDO:equivalentTo", source="Orphanet:2473/e"} xref: Orphanet:2473 {source="MONDO:equivalentTo", source="OMIM:236700"} xref: SCTID:702407009 {source="MONDO:equivalentTo"} -xref: UMLS:C0948368 {source="Orphanet:2473", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:236700", source="ORDO:2473/e"} +xref: UMLS:C0948368 {source="Orphanet:2473", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2473/e", source="OMIM:236700"} is_a: MONDO:0015161 {source="Orphanet:2473", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2473", source="Orphanet:2473/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:2473"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -176530,11 +176497,11 @@ synonym: "non-immune fetal edema" EXACT [Orphanet:363999] synonym: "non-immune fetal hydrops" EXACT [Orphanet:363999] synonym: "non-immune HF" EXACT [Orphanet:363999] xref: EFO:0009051 {source="MONDO:equivalentTo"} -xref: ICD10CM:P56.9 {source="ORDO:363999/btnt", source="Orphanet:363999"} -xref: ICD10CM:P83.2 {source="ORDO:363999/btnt", source="Orphanet:363999"} +xref: ICD10CM:P56.9 {source="Orphanet:363999", source="Orphanet:363999/btnt"} +xref: ICD10CM:P83.2 {source="Orphanet:363999", source="Orphanet:363999/btnt"} xref: ICD9:778.0 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C111905 {source="MONDO:equivalentTo"} -xref: OMIM:236750 {source="MONDO:equivalentTo", source="Orphanet:363999", source="ORDO:363999/e"} +xref: OMIM:236750 {source="Orphanet:363999/e", source="MONDO:equivalentTo", source="Orphanet:363999"} xref: Orphanet:1041 {source="MONDO:subClassOf", source="OMIM:236750"} xref: Orphanet:163596 {source="OMIM:236750", source="MONDO:superClassOf"} xref: Orphanet:363999 {source="OMIM:236750", source="MONDO:equivalentTo"} @@ -176557,8 +176524,8 @@ synonym: "L-2-hydroxyglutaric aciduria" EXACT [MONDO:Lexical, OMIM:236792] synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236792] xref: DOID:0050574 {source="MONDO:equivalentTo"} xref: GARD:0010472 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="Orphanet:79314", source="ORDO:79314/attributed", source="ORDO:79314/ntbt"} -xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="ORDO:79314/e"} +xref: ICD10CM:E72.8 {source="Orphanet:79314", source="Orphanet:79314/attributed", source="Orphanet:79314/ntbt"} +xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="Orphanet:79314/e"} xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"} xref: SCTID:237961001 {source="MONDO:equivalentTo"} xref: UMLS:C1855995 {source="Orphanet:79314", source="OMIM:236792", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -176577,13 +176544,13 @@ subset: ordo_disease {source="Orphanet:939"} synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795] synonym: "disorder of valine metabolism" RELATED [GARD:0005662] xref: GARD:0005662 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:939/attributed", source="ORDO:939/ntbt", source="Orphanet:939"} +xref: ICD10CM:E71.1 {source="Orphanet:939", source="Orphanet:939/attributed", source="Orphanet:939/ntbt"} xref: ICD9:791.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535312 {source="MONDO:equivalentTo", source="ORDO:939/e", source="Orphanet:939"} -xref: OMIM:236795 {source="MONDO:equivalentTo", source="ORDO:939/e", source="Orphanet:939"} +xref: MESH:C535312 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} +xref: OMIM:236795 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} xref: Orphanet:939 {source="OMIM:236795", source="MONDO:equivalentTo"} xref: SCTID:237957007 {source="MONDO:equivalentTo"} -xref: UMLS:C0342737 {source="OMIM:236795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:939/e", source="Orphanet:939"} +xref: UMLS:C0342737 {source="Orphanet:939/e", source="OMIM:236795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:939"} is_a: MONDO:0019215 {source="Orphanet:939"} ! classic organic aciduria relationship: disease_has_basis_in_disruption_of GO:0006573 ! valine metabolic process property_value: confidence "4.277777777777778" xsd:double @@ -176599,10 +176566,10 @@ synonym: "kynureninase deficiency" EXACT [OMIM:236800, Orphanet:79155] synonym: "kynureninase deficiency, partial" RELATED [OMIM:236800] synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155] xref: GARD:0010039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E70.8 {source="ORDO:79155/attributed", source="ORDO:79155/ntbt", source="Orphanet:79155"} +xref: ICD10CM:E70.8 {source="Orphanet:79155", source="Orphanet:79155/attributed", source="Orphanet:79155/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536081 {source="MONDO:equivalentTo"} -xref: OMIM:236800 {source="MONDO:equivalentTo", source="ORDO:79155/e", source="Orphanet:79155"} +xref: OMIM:236800 {source="Orphanet:79155/e", source="MONDO:equivalentTo", source="Orphanet:79155"} xref: Orphanet:79155 {source="MONDO:equivalentTo", source="OMIM:236800"} xref: SCTID:72945002 {source="MONDO:equivalentTo"} xref: UMLS:C0268474 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79155", source="OMIM:236800"} @@ -176617,9 +176584,9 @@ name: seizures-intellectual disability due to hydroxylysinuria syndrome def: "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." [Orphanet:79156] subset: ordo_disease {source="Orphanet:79156"} synonym: "hydroxylysinuria" RELATED [OMIM:236900] -xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="ORDO:79156/attributed", source="ORDO:79156/ntbt", source="Orphanet:79156"} +xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="Orphanet:79156/attributed", source="Orphanet:79156/ntbt", source="Orphanet:79156"} xref: MESH:C565502 {source="MONDO:equivalentTo"} -xref: OMIM:236900 {source="MONDO:equivalentTo", source="ORDO:79156/e", source="Orphanet:79156"} +xref: OMIM:236900 {source="Orphanet:79156/e", source="MONDO:equivalentTo", source="Orphanet:79156"} xref: Orphanet:79156 {source="MONDO:equivalentTo", source="OMIM:236900"} xref: UMLS:C1855986 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:236900"} is_a: MONDO:0017351 {source="Orphanet:79156"} ! inborn disorder of lysine and hydroxylysine metabolism @@ -176682,11 +176649,11 @@ synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" REL xref: DOID:9280 {source="EFO:0007193", source="MONDO:equivalentTo"} xref: EFO:0007193 {source="MONDO:equivalentTo"} xref: GARD:0007269 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.2 {source="Orphanet:147", source="ORDO:147/attributed", source="ORDO:147/ntbt"} -xref: MedDRA:10058297 {source="Orphanet:147", source="ORDO:147/e"} +xref: ICD10CM:E72.2 {source="Orphanet:147", source="Orphanet:147/attributed", source="Orphanet:147/ntbt"} +xref: MedDRA:10058297 {source="Orphanet:147", source="Orphanet:147/e"} xref: MESH:D020165 {source="DOID:9280", source="EFO:0007193", source="MONDO:equivalentTo"} xref: NCIT:C84612 {source="DOID:9280", source="MONDO:equivalentTo"} -xref: OMIM:237300 {source="Orphanet:147", source="DOID:9280", source="MONDO:equivalentTo", source="ORDO:147/e"} +xref: OMIM:237300 {source="Orphanet:147", source="DOID:9280", source="MONDO:equivalentTo", source="Orphanet:147/e"} xref: Orphanet:147 {source="OMIM:237300", source="MONDO:equivalentTo"} xref: SCTID:62522004 {source="DOID:9280", source="MONDO:equivalentTo"} xref: UMLS:C0751753 {source="NCIT:C84612", source="Orphanet:147", source="DOID:9280", source="NCBI:mim2gene_medline", source="OMIM:237300", source="MONDO:notFoundInDiseaseSubset"} @@ -176710,10 +176677,10 @@ synonym: "NAGS deficiency" EXACT [Orphanet:927] synonym: "Nags deficiency" RELATED [OMIM:237310] synonym: "NAGSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237310] xref: GARD:0007158 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.2 {source="ORDO:927/attributed", source="ORDO:927/ntbt", source="Orphanet:927"} +xref: ICD10CM:E72.2 {source="Orphanet:927/attributed", source="Orphanet:927/ntbt", source="Orphanet:927"} xref: MESH:C536109 {source="MONDO:equivalentTo"} xref: NCIT:C129307 {source="MONDO:equivalentTo"} -xref: OMIM:237310 {source="MONDO:equivalentTo", source="ORDO:927/e", source="Orphanet:927"} +xref: OMIM:237310 {source="Orphanet:927/e", source="MONDO:equivalentTo", source="Orphanet:927"} xref: Orphanet:927 {source="OMIM:237310", source="MONDO:equivalentTo"} xref: SCTID:57119000 {source="MONDO:equivalentTo"} xref: UMLS:C0268543 {source="OMIM:237310", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:927"} @@ -176731,13 +176698,13 @@ synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400] synonym: "hyperalaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147] synonym: "hyperbetaalaninemia" RELATED [GARD:0010267] xref: GARD:0010267 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.8 {source="ORDO:309147/attributed", source="ORDO:309147/ntbt", source="Orphanet:309147"} +xref: ICD10CM:E79.8 {source="Orphanet:309147/attributed", source="Orphanet:309147/ntbt", source="Orphanet:309147"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562684 {source="MONDO:equivalentTo"} -xref: OMIM:237400 {source="GARD:0010267", source="MONDO:equivalentTo", source="ORDO:309147/e", source="Orphanet:309147"} +xref: OMIM:237400 {source="Orphanet:309147/e", source="GARD:0010267", source="MONDO:equivalentTo", source="Orphanet:309147"} xref: Orphanet:309147 {source="GARD:0010267", source="OMIM:237400", source="MONDO:equivalentTo"} xref: SCTID:2359002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268630 {source="GARD:0010267", source="OMIM:237400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309147/e", source="Orphanet:309147"} +xref: UMLS:C0268630 {source="Orphanet:309147/e", source="GARD:0010267", source="OMIM:237400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:309147"} is_a: MONDO:0019238 {source="Orphanet:309147"} ! inborn disorder of pyrimidine metabolism property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia xsd:anyURI {source="GARD:0010267"} @@ -176755,12 +176722,12 @@ synonym: "hyperbilirubinemia, rotor type, digenic" EXACT [OMIM:237450, OMIM:gene synonym: "Rotor syndrome" EXACT [OMIM:237450] synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218] xref: GARD:0000218 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.6 {source="Orphanet:3111", source="ORDO:3111/attributed", source="ORDO:3111/ntbt"} -xref: MedDRA:10039234 {source="Orphanet:3111", source="ORDO:3111/e"} -xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="ORDO:3111/e"} +xref: ICD10CM:E80.6 {source="Orphanet:3111", source="Orphanet:3111/attributed", source="Orphanet:3111/ntbt"} +xref: MedDRA:10039234 {source="Orphanet:3111", source="Orphanet:3111/e"} +xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="Orphanet:3111/e"} xref: Orphanet:3111 {source="OMIM:237450", source="MONDO:equivalentTo"} xref: SCTID:32891000 {source="MONDO:equivalentTo"} -xref: UMLS:C0220991 {source="OMIM:237450", source="Orphanet:3111", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3111/e"} +xref: UMLS:C0220991 {source="OMIM:237450", source="Orphanet:3111", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3111/e"} is_a: MONDO:0002408 {source="DC-OMIM:237450", source="OMIM:237450"} ! hereditary hyperbilirubinemia is_a: MONDO:0005066 {source="Orphanet:3111"} ! metabolic disease is_a: MONDO:0017755 {source="MONDO:Redundant", source="Orphanet:3111", source="indirect"} ! inborn disorder of bilirubin metabolism @@ -176788,14 +176755,14 @@ synonym: "Sprinz-Nelson syndrome" EXACT [Orphanet:234] xref: DOID:12308 {source="MONDO:equivalentTo"} xref: GARD:0002793 {source="MONDO:equivalentTo"} xref: GARD:0006289 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E80.6 {source="DOID:12308", source="ORDO:234/attributed", source="ORDO:234/ntbt", source="Orphanet:234"} -xref: MedDRA:10013800 {source="ORDO:234/e", source="Orphanet:234"} -xref: MESH:D007566 {source="DOID:12308", source="MONDO:equivalentTo", source="ORDO:234/e", source="Orphanet:234"} +xref: ICD10CM:E80.6 {source="DOID:12308", source="Orphanet:234/attributed", source="Orphanet:234/ntbt", source="Orphanet:234"} +xref: MedDRA:10013800 {source="Orphanet:234/e", source="Orphanet:234"} +xref: MESH:D007566 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"} xref: NCIT:C34741 {source="DOID:12308", source="MONDO:equivalentTo"} -xref: OMIM:237500 {source="DOID:12308", source="MONDO:equivalentTo", source="ORDO:234/e", source="Orphanet:234"} +xref: OMIM:237500 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"} xref: Orphanet:234 {source="MONDO:equivalentTo", source="OMIM:237500"} xref: SCTID:44553005 {source="DOID:12308", source="MONDO:equivalentTo"} -xref: UMLS:C0022350 {source="DOID:12308", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:237500", source="NCIT:C34741", source="ORDO:234/e", source="Orphanet:234"} +xref: UMLS:C0022350 {source="DOID:12308", source="Orphanet:234/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:237500", source="NCIT:C34741", source="Orphanet:234"} is_a: MONDO:0002254 {source="NCIT:C34741"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:237500", source="DOID:12308", source="MESH:D007566", source="OMIM:237500"} ! hereditary hyperbilirubinemia is_a: MONDO:0005066 {source="Orphanet:234"} ! metabolic disease @@ -176838,9 +176805,9 @@ synonym: "Lucey-Driscoll syndrome" EXACT [OMIM:237900, Orphanet:2312] synonym: "transient familial hyperbilirubinemia" RELATED [GARD:0003304] xref: GARD:0002791 {source="MONDO:equivalentTo"} xref: GARD:0003304 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:P59.8 {source="Orphanet:2312", source="ORDO:2312/attributed", source="ORDO:2312/ntbt"} +xref: ICD10CM:P59.8 {source="Orphanet:2312/attributed", source="Orphanet:2312/ntbt", source="Orphanet:2312"} xref: MESH:C562692 {source="MONDO:equivalentTo"} -xref: OMIM:237900 {source="ORDO:2312/e", source="Orphanet:2312", source="MONDO:equivalentTo"} +xref: OMIM:237900 {source="Orphanet:2312", source="MONDO:equivalentTo", source="Orphanet:2312/e"} xref: Orphanet:2312 {source="MONDO:equivalentTo", source="OMIM:237900", source="GARD:0002791"} xref: UMLS:C0270210 {source="NCBI:mim2gene_medline", source="Orphanet:2312", source="MONDO:equivalentTo", source="OMIM:237900", source="GARD:0002791"} xref: UMLS:C0270215 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:237900"} @@ -176874,7 +176841,7 @@ xref: Orphanet:96265 {source="OMIM:238320", source="MONDO:superClassOf"} xref: Orphanet:96266 {source="OMIM:238320", source="MONDO:superClassOf"} xref: UMLS:C0266432 {source="OMIM:238320", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2673497 {source="OMIM:238320", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019155 {source="MONDO:Redundant", source="ORDO:755/btnt"} ! Leydig cell hypoplasia +is_a: MONDO:0019155 {source="MONDO:Redundant", source="Orphanet:755/btnt"} ! Leydig cell hypoplasia intersection_of: MONDO:0019155 ! Leydig cell hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6585 ! LHCGR relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6585 {source="mim2gene_medgen"} ! LHCGR @@ -176941,11 +176908,11 @@ synonym: "mixed hyperglyceridemia" EXACT [DOID:14118] synonym: "type I hyperlipoproteinemia" RELATED [GARD:0012241] xref: DOID:14118 {source="MONDO:equivalentTo"} xref: GARD:0012241 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.3 {source="DOID:14118", source="ORDO:309015/attributed", source="ORDO:309015/ntbt", source="Orphanet:309015"} +xref: ICD10CM:E78.3 {source="DOID:14118", source="Orphanet:309015/attributed", source="Orphanet:309015/ntbt", source="Orphanet:309015"} xref: ICD9:272.3 {source="DOID:14118"} xref: MESH:D008072 {source="DOID:14118", source="MONDO:equivalentTo"} xref: NCIT:C84771 {source="DOID:14118", source="MONDO:equivalentTo"} -xref: OMIM:238600 {source="DOID:14118", source="MONDO:equivalentTo", source="ORDO:309015/e", source="Orphanet:309015"} +xref: OMIM:238600 {source="DOID:14118", source="Orphanet:309015/e", source="MONDO:equivalentTo", source="Orphanet:309015"} xref: Orphanet:309015 {source="MONDO:equivalentTo", source="OMIM:238600"} xref: Orphanet:411 {source="OMIM:238600"} xref: SCTID:190781009 {source="DOID:14118"} @@ -176983,17 +176950,17 @@ synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [OMIM:238700] xref: DOID:9274 {source="MONDO:equivalentTo"} xref: GARD:0002828 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0002161 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="Orphanet:2203", source="ORDO:2203/ntbt", source="DOID:9274", source="ORDO:2203/inclusion"} +xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="Orphanet:2203/ntbt", source="Orphanet:2203/inclusion", source="Orphanet:2203", source="DOID:9274"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D020167 {source="Orphanet:2203", source="ORDO:2203/e", source="DOID:9274"} +xref: MESH:D020167 {source="Orphanet:2203", source="DOID:9274", source="Orphanet:2203/e"} xref: NCIT:C123433 {source="MONDO:equivalentTo", source="DOID:9274"} -xref: OMIM:238700 {source="Orphanet:2203", source="ORDO:2203/e", source="MONDO:equivalentTo", source="DOID:9274"} -xref: OMIM:238710 {source="Orphanet:2203", source="ORDO:2203/btnt", source="MONDO:superClassOf", source="DOID:9274"} +xref: OMIM:238700 {source="Orphanet:2203", source="MONDO:equivalentTo", source="DOID:9274", source="Orphanet:2203/e"} +xref: OMIM:238710 {source="Orphanet:2203/btnt", source="Orphanet:2203", source="MONDO:superClassOf", source="DOID:9274"} xref: Orphanet:2203 {source="MONDO:equivalentTo", source="OMIM:238700", source="DOID:9274"} xref: SCTID:58558003 {source="MONDO:equivalentTo", source="DOID:9274"} -xref: UMLS:C0268553 {source="Orphanet:2203", source="NCBI:mim2gene_medline", source="ORDO:2203/e", source="MONDO:equivalentTo", source="DOID:9274", source="NCIT:C123433"} +xref: UMLS:C0268553 {source="Orphanet:2203", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:9274", source="Orphanet:2203/e", source="NCIT:C123433"} xref: UMLS:C0543533 {source="OMIM:238700", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0936256 {source="Orphanet:2203", source="ORDO:2203/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0936256 {source="Orphanet:2203", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2203/e"} xref: UMLS:C1282843 {source="OMIM:238700", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004736 {source="DOID:9274", source="indirect"} ! inherited amino acid metabolic disorder is_a: MONDO:0005066 {source="DOID:9274/inferred", source="MONDO:Redundant", source="NCIT:C123433", source="Orphanet:2203/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease @@ -177010,7 +176977,7 @@ xref: MESH:C565499 {source="MONDO:equivalentTo"} xref: OMIM:238710 {source="MONDO:equivalentTo"} xref: Orphanet:2203 {source="MONDO:subClassOf", source="OMIM:238710"} xref: UMLS:C1855927 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:238710"} -is_a: MONDO:0009388 {source="ORDO:2203/btnt"} ! hyperlysinemia +is_a: MONDO:0009388 {source="Orphanet:2203/btnt"} ! hyperlysinemia property_value: confidence "0.3671000000000004" xsd:double [Term] @@ -177061,13 +177028,13 @@ synonym: "ORNT1 deficiency" EXACT [Orphanet:415] synonym: "triple H syndrome" EXACT [Orphanet:415] xref: DOID:0050720 {source="MONDO:equivalentTo"} xref: GARD:0002830 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.4 {source="Orphanet:415", source="ORDO:415/attributed", source="ORDO:415/ntbt"} +xref: ICD10CM:E72.4 {source="Orphanet:415/attributed", source="Orphanet:415/ntbt", source="Orphanet:415"} xref: MESH:C538380 {source="MONDO:equivalentTo"} xref: NCIT:C129029 {source="MONDO:equivalentTo"} -xref: OMIM:238970 {source="ORDO:415/e", source="DOID:0050720", source="Orphanet:415", source="MONDO:equivalentTo"} +xref: OMIM:238970 {source="DOID:0050720", source="Orphanet:415", source="MONDO:equivalentTo", source="Orphanet:415/e"} xref: Orphanet:415 {source="OMIM:238970", source="MONDO:equivalentTo"} xref: SCTID:30287008 {source="MONDO:equivalentTo"} -xref: UMLS:C0268540 {source="ORDO:415/e", source="OMIM:238970", source="NCBI:mim2gene_medline", source="Orphanet:415", source="MONDO:equivalentTo"} +xref: UMLS:C0268540 {source="OMIM:238970", source="NCBI:mim2gene_medline", source="Orphanet:415", source="MONDO:equivalentTo", source="Orphanet:415/e"} is_a: MONDO:0002254 {source="NCIT:C129029"} ! syndromic disease is_a: MONDO:0004739 {source="Orphanet:415"} ! urea cycle disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10985 {source="mim2gene_medgen"} ! SLC25A15 @@ -177098,12 +177065,12 @@ synonym: "Paget disease juvenile type" RELATED [GARD:0002831] synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical, OMIM:239000] synonym: "PDB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239000] xref: GARD:0002831 {source="MONDO:equivalentTo"} -xref: ICD10CM:M88.0 {source="ORDO:2801/attributed", source="ORDO:2801/ntbt", source="Orphanet:2801"} -xref: ICD10CM:M88.8 {source="ORDO:2801/attributed", source="ORDO:2801/ntbt", source="Orphanet:2801"} -xref: ICD10CM:M88.9 {source="ORDO:2801/attributed", source="ORDO:2801/ntbt", source="Orphanet:2801"} +xref: ICD10CM:M88.0 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} +xref: ICD10CM:M88.8 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} +xref: ICD10CM:M88.9 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} xref: MESH:C537701 {source="MONDO:equivalentTo"} xref: NCIT:C131861 {source="MONDO:equivalentTo"} -xref: OMIM:239000 {source="MONDO:equivalentTo", source="Orphanet:2801", source="ORDO:2801/e"} +xref: OMIM:239000 {source="MONDO:equivalentTo", source="Orphanet:2801", source="Orphanet:2801/e"} xref: Orphanet:2801 {source="MONDO:equivalentTo", source="OMIM:239000"} xref: SCTID:9723006 {source="MONDO:equivalentTo"} xref: UMLS:C0268414 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2801", source="NCIT:C131861", source="OMIM:239000"} @@ -177132,10 +177099,10 @@ synonym: "van Buchem disease type 1" EXACT [NCIT:C131812] synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833, OMIM:239100] xref: DOID:0080036 {source="MONDO:equivalentTo"} xref: GARD:0002833 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M85.2 {source="ORDO:3416/attributed", source="ORDO:3416/ntbt", source="Orphanet:3416"} +xref: ICD10CM:M85.2 {source="Orphanet:3416", source="Orphanet:3416/attributed", source="Orphanet:3416/ntbt"} xref: NCIT:C131812 {source="MONDO:equivalentTo"} -xref: OMIM:239100 {source="MONDO:equivalentTo", source="ORDO:3416/e", source="DOID:0080036", source="Orphanet:3416"} -xref: OMIM:607636 {source="ORDO:3416/btnt", source="MONDO:superClassOf", source="Orphanet:3416"} +xref: OMIM:239100 {source="MONDO:equivalentTo", source="DOID:0080036", source="Orphanet:3416", source="Orphanet:3416/e"} +xref: OMIM:607636 {source="MONDO:superClassOf", source="Orphanet:3416", source="Orphanet:3416/btnt"} xref: Orphanet:3416 {source="OMIM:239100", source="MONDO:equivalentTo"} xref: SCTID:59763006 {source="MONDO:equivalentTo"} xref: UMLS:C0432271 {source="NCIT:C131812", source="MONDO:notFoundInDiseaseSubset"} @@ -177169,10 +177136,10 @@ synonym: "neonatal severe hyperparathyroidism" RELATED [GARD:0002838] synonym: "NSHPT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:239200, Orphanet:417] synonym: "Nsph" RELATED [OMIM:239200] xref: GARD:0002838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E21.0 {source="Orphanet:417", source="ORDO:417/attributed", source="ORDO:417/ntbt"} +xref: ICD10CM:E21.0 {source="Orphanet:417", source="Orphanet:417/attributed", source="Orphanet:417/ntbt"} xref: MESH:C563375 {source="MONDO:equivalentTo"} xref: NCIT:C131853 {source="MONDO:equivalentTo"} -xref: OMIM:239200 {source="ORDO:417/e", source="MONDO:equivalentTo", source="Orphanet:417"} +xref: OMIM:239200 {source="MONDO:equivalentTo", source="Orphanet:417", source="Orphanet:417/e"} xref: Orphanet:417 {source="OMIM:239200", source="MONDO:equivalentTo"} xref: SCTID:715218009 {source="MONDO:equivalentTo"} xref: UMLS:C1832615 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:417", source="NCIT:C131853"} @@ -177202,7 +177169,7 @@ xref: OMIM:239300 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:239300"} xref: UMLS:C1855923 {source="MONDO:subClassOf", source="OMIM:239300", source="NCBI:mim2gene_medline"} xref: UMLS:CN030519 {source="MONDO:equivalentTo"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:239300", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:239300", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26031 ! PIGV relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26031 {source="mim2gene_medgen"} ! PIGV @@ -177231,10 +177198,10 @@ synonym: "HYRPRO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239500] synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "proline oxidase deficiency" EXACT [Orphanet:419] xref: DOID:0080542 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.5 {source="ORDO:419/ntbt", source="Orphanet:419", source="ORDO:419/inclusion"} +xref: ICD10CM:E72.5 {source="Orphanet:419/inclusion", source="Orphanet:419", source="Orphanet:419/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058513 {source="ORDO:419/e", source="Orphanet:419"} -xref: OMIM:239500 {source="ORDO:419/e", source="MONDO:equivalentTo", source="Orphanet:419"} +xref: MedDRA:10058513 {source="Orphanet:419", source="Orphanet:419/e"} +xref: OMIM:239500 {source="MONDO:equivalentTo", source="Orphanet:419", source="Orphanet:419/e"} xref: Orphanet:419 {source="OMIM:239500", source="MONDO:equivalentTo"} xref: SCTID:61071003 {source="MONDO:equivalentTo"} xref: UMLS:C0268529 {source="NCBI:mim2gene_medline", source="OMIM:239500", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:419"} @@ -177265,15 +177232,15 @@ synonym: "HYRPRO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239510] synonym: "type 2 hyperprolinemia" RELATED [GARD:0006710] xref: DOID:0080543 {source="MONDO:equivalentTo"} xref: GARD:0006710 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.5 {source="ORDO:79101/attributed", source="ORDO:79101/ntbt", source="Orphanet:79101"} -xref: MedDRA:10058512 {source="ORDO:79101/e", source="Orphanet:79101"} -xref: MedDRA:10058514 {source="ORDO:79101/e", source="Orphanet:79101"} -xref: MESH:C538385 {source="MONDO:equivalentTo", source="ORDO:79101/e", source="Orphanet:79101"} -xref: OMIM:239510 {source="MONDO:equivalentTo", source="ORDO:79101/e", source="Orphanet:79101"} +xref: ICD10CM:E72.5 {source="Orphanet:79101/attributed", source="Orphanet:79101/ntbt", source="Orphanet:79101"} +xref: MedDRA:10058512 {source="Orphanet:79101/e", source="Orphanet:79101"} +xref: MedDRA:10058514 {source="Orphanet:79101/e", source="Orphanet:79101"} +xref: MESH:C538385 {source="Orphanet:79101/e", source="MONDO:equivalentTo", source="Orphanet:79101"} +xref: OMIM:239510 {source="Orphanet:79101/e", source="MONDO:equivalentTo", source="Orphanet:79101"} xref: Orphanet:79101 {source="OMIM:239510", source="MONDO:equivalentTo"} xref: SCTID:717181004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268530 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79101/e", source="Orphanet:79101"} -xref: UMLS:C2931835 {source="OMIM:239510", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79101/e", source="Orphanet:79101"} +xref: UMLS:C0268530 {source="Orphanet:79101/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79101"} +xref: UMLS:C2931835 {source="OMIM:239510", source="Orphanet:79101/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79101"} is_a: MONDO:0017355 {source="MONDO:Redundant", source="Orphanet:79101", source="indirect"} ! inborn disorder of proline metabolism is_a: MONDO:0019058 {source="Orphanet:79101"} ! neurometabolic disease is_a: MONDO:0023419 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! hyperprolinemia @@ -177300,12 +177267,12 @@ synonym: "hypertelorism-hypospadias-polysyndactyly syndrome" EXACT [Orphanet:221 synonym: "Naguib syndrome" RELATED [GARD:0000287] synonym: "Naguib-Richieri-Costa syndrome" EXACT [OMIM:239710, Orphanet:2211] xref: GARD:0000287 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2211", source="ORDO:2211/attributed", source="ORDO:2211/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2211/attributed", source="Orphanet:2211/ntbt", source="Orphanet:2211"} xref: MESH:C538332 {source="MONDO:equivalentTo"} -xref: OMIM:239710 {source="ORDO:2211/e", source="Orphanet:2211", source="MONDO:equivalentTo"} +xref: OMIM:239710 {source="Orphanet:2211", source="MONDO:equivalentTo", source="Orphanet:2211/e"} xref: Orphanet:2211 {source="OMIM:239710", source="MONDO:equivalentTo"} xref: SCTID:721835008 {source="MONDO:equivalentTo"} -xref: UMLS:C1855904 {source="ORDO:2211/e", source="Orphanet:2211", source="OMIM:239710", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1855904 {source="Orphanet:2211", source="OMIM:239710", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2211/e"} is_a: MONDO:0008715 {source="DC-OMIM:239710", source="linkedlifedata"} ! acrofrontofacionasal dysostosis is_a: MONDO:0015161 {source="Orphanet:2211", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2211"} ! syndromic urogenital tract malformation @@ -177339,12 +177306,12 @@ synonym: "hypertelorism-microtia-clefting syndrome" EXACT [DOID:14670] synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670] xref: DOID:14670 {source="MONDO:equivalentTo"} xref: GARD:0000897 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2213", source="ORDO:2213/attributed", source="ORDO:2213/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2213/attributed", source="Orphanet:2213/ntbt", source="Orphanet:2213"} xref: MESH:C537632 {source="DOID:14670", source="MONDO:equivalentTo"} -xref: OMIM:239800 {source="ORDO:2213/e", source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo"} +xref: OMIM:239800 {source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="Orphanet:2213/e"} xref: Orphanet:2213 {source="MONDO:equivalentTo", source="OMIM:239800"} xref: SCTID:721836009 {source="MONDO:equivalentTo"} -xref: UMLS:C0220742 {source="ORDO:2213/e", source="NCBI:mim2gene_medline", source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="OMIM:239800"} +xref: UMLS:C0220742 {source="NCBI:mim2gene_medline", source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="OMIM:239800", source="Orphanet:2213/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2213", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0006025 {source="DOID:14670", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:2213"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -177364,10 +177331,10 @@ synonym: "cervical hypertrichosis peripheral neuropathy" RELATED [GARD:0001226] synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226, OMIM:239840] xref: GARD:0001226 {source="MONDO:equivalentTo"} xref: MESH:C565492 {source="MONDO:equivalentTo"} -xref: OMIM:239840 {source="MONDO:equivalentTo", source="GARD:0001226", source="Orphanet:2218", source="ORDO:2218/e"} +xref: OMIM:239840 {source="MONDO:equivalentTo", source="GARD:0001226", source="Orphanet:2218", source="Orphanet:2218/e"} xref: Orphanet:2218 {source="OMIM:239840", source="MONDO:equivalentTo", source="GARD:0001226"} xref: UMLS:C1855902 {source="OMIM:239840", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2218"} -xref: UMLS:C2931676 {source="MONDO:equivalentTo", source="Orphanet:2218", source="ORDO:2218/e"} +xref: UMLS:C2931676 {source="MONDO:equivalentTo", source="Orphanet:2218", source="Orphanet:2218/e"} is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:2218", source="Orphanet:2218/inferred"} ! genetic nervous system disorder is_a: MONDO:0019280 {source="MESH:C565492", source="Orphanet:2218"} ! hypertrichosis is_a: MONDO:0020022 ! central nervous system malformation @@ -177390,12 +177357,12 @@ synonym: "hypertrichotic osteochondrodysplasia (Cantu syndrome)" EXACT [OMIM:239 synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [Orphanet:1517] xref: DOID:0060569 {source="MONDO:equivalentTo"} xref: GARD:0008585 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="ORDO:1517/attributed", source="ORDO:1517/ntbt", source="Orphanet:1517"} -xref: MESH:C535572 {source="MONDO:equivalentTo", source="DOID:0060569", source="ORDO:1517/e", source="Orphanet:1517"} -xref: OMIM:239850 {source="MONDO:equivalentTo", source="DOID:0060569", source="GARD:0008585", source="ORDO:1517/e", source="Orphanet:1517"} +xref: ICD10CM:Q87.3 {source="Orphanet:1517/attributed", source="Orphanet:1517/ntbt", source="Orphanet:1517"} +xref: MESH:C535572 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="Orphanet:1517"} +xref: OMIM:239850 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="GARD:0008585", source="Orphanet:1517"} xref: Orphanet:1517 {source="OMIM:239850", source="MONDO:equivalentTo", source="GARD:0008585"} xref: SCTID:239087008 {source="MONDO:equivalentTo"} -xref: UMLS:C0795905 {source="OMIM:239850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1517/e", source="Orphanet:1517"} +xref: UMLS:C0795905 {source="OMIM:239850", source="Orphanet:1517/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1517"} is_a: MONDO:0002254 {source="MONDO:cjm", source="indirect"} ! syndromic disease is_a: MONDO:0005516 {source="DOID:0060569", source="MESH:C535572"} ! osteochondrodysplasia is_a: MONDO:0015160 {source="Orphanet:1517", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -177484,17 +177451,17 @@ synonym: "Whitaker syndrome" RELATED [GTR:AN0156902] xref: DOID:0050167 {source="MONDO:equivalentTo"} xref: GARD:0005558 {source="MONDO:equivalentTo"} xref: GARD:0008466 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="Orphanet:3453", source="ORDO:3453/inclusion", source="ORDO:3453/ntbt"} +xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="Orphanet:3453", source="Orphanet:3453/ntbt", source="Orphanet:3453/inclusion"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538275 {source="Orphanet:3453", source="ORDO:3453/e"} +xref: MESH:C538275 {source="Orphanet:3453", source="Orphanet:3453/e"} xref: NCIT:C129727 {source="MONDO:equivalentTo"} -xref: OMIM:240300 {source="Orphanet:3453", source="ORDO:3453/e", source="DOID:0050167", source="MONDO:equivalentTo"} +xref: OMIM:240300 {source="Orphanet:3453", source="DOID:0050167", source="MONDO:equivalentTo", source="Orphanet:3453/e"} xref: Orphanet:3453 {source="MONDO:equivalentTo", source="OMIM:240300"} xref: SCTID:11244009 {source="MONDO:equivalentTo"} xref: UMLS:C0085859 {source="Orphanet:3453", source="GARD:0005558", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129727", source="OMIM:240300"} xref: UMLS:C1855868 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:240300"} xref: UMLS:C1855869 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:240300"} -xref: UMLS:C3494489 {source="Orphanet:3453", source="ORDO:3453/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C3494489 {source="Orphanet:3453", source="Orphanet:3453/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:3453", source="Orphanet:3453/inferred"} ! adrenal gland disorder is_a: MONDO:0016165 {source="Orphanet:3453"} ! genetic hypoparathyroidism is_a: MONDO:0017278 {source="DC-OMIM:240300", source="DOID:0050167", source="MONDO:Redundant", source="NCIT:C129727", source="Orphanet:3453", source="linkedlifedata"} ! autoimmune polyendocrinopathy @@ -177581,9 +177548,9 @@ synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600] synonym: "liver GSD 0" RELATED [GARD:0002513] xref: GARD:0002513 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0002889 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:2089", source="ORDO:2089/inclusion", source="ORDO:2089/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:2089", source="Orphanet:2089/ntbt", source="Orphanet:2089/inclusion"} xref: MESH:C565485 {source="MONDO:equivalentTo"} -xref: OMIM:240600 {source="Orphanet:2089", source="ORDO:2089/e", source="MONDO:equivalentTo"} +xref: OMIM:240600 {source="Orphanet:2089", source="MONDO:equivalentTo", source="Orphanet:2089/e"} xref: Orphanet:2089 {source="MONDO:equivalentTo", source="OMIM:240600"} xref: SCTID:237964009 {source="MONDO:equivalentTo"} xref: UMLS:C0342748 {source="MONDO:equivalentTo"} @@ -177618,7 +177585,7 @@ name: hypoinsulinemic hypoglycemia and body hemihypertrophy subset: ordo_disease {source="Orphanet:293964"} synonym: "HIHGHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240900] synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical, OMIM:240900] -xref: OMIM:240900 {source="MONDO:equivalentTo", source="Orphanet:293964", source="ORDO:293964/e"} +xref: OMIM:240900 {source="Orphanet:293964/e", source="MONDO:equivalentTo", source="Orphanet:293964"} xref: Orphanet:293964 {source="OMIM:240900", source="MONDO:equivalentTo"} xref: UMLS:C1855860 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3278384 {source="OMIM:240900", source="MONDO:notFoundInDiseaseSubset"} @@ -177639,9 +177606,9 @@ synonym: "hypogonadism cataract syndrome" RELATED [GARD:0000298] synonym: "hypogonadism-cataract syndrome" RELATED [OMIM:240950] synonym: "Lubinsky syndrome" EXACT [Orphanet:2410] xref: GARD:0000298 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E29.1 {source="Orphanet:2410", source="ORDO:2410/attributed", source="ORDO:2410/ntbt"} +xref: ICD10CM:E29.1 {source="Orphanet:2410", source="Orphanet:2410/attributed", source="Orphanet:2410/ntbt"} xref: MESH:C543092 {source="MONDO:equivalentTo"} -xref: OMIM:240950 {source="Orphanet:2410", source="ORDO:2410/e", source="MONDO:equivalentTo"} +xref: OMIM:240950 {source="Orphanet:2410", source="MONDO:equivalentTo", source="Orphanet:2410/e"} xref: Orphanet:2410 {source="MONDO:equivalentTo", source="OMIM:240950"} xref: SCTID:721233005 {source="MONDO:equivalentTo"} xref: UMLS:C1855859 {source="Orphanet:2410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:240950"} @@ -177675,13 +177642,13 @@ synonym: "woodhouse Sakati syndrome" RELATED [GARD:0005592] synonym: "Woodhouse-Sakati syndrome" EXACT CLINGEN_PREFERRED [] synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080] xref: GARD:0005592 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3464", source="ORDO:3464/attributed", source="ORDO:3464/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3464", source="Orphanet:3464/attributed", source="Orphanet:3464/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536742 {source="Orphanet:3464", source="ORDO:3464/e", source="MONDO:equivalentTo"} -xref: OMIM:241080 {source="Orphanet:3464", source="ORDO:3464/e", source="MONDO:equivalentTo"} +xref: MESH:C536742 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} +xref: OMIM:241080 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} xref: Orphanet:3464 {source="OMIM:241080", source="MONDO:equivalentTo"} xref: SCTID:237616002 {source="MONDO:equivalentTo"} -xref: UMLS:C0342286 {source="Orphanet:3464", source="OMIM:241080", source="ORDO:3464/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0342286 {source="Orphanet:3464", source="OMIM:241080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3464/e"} is_a: MONDO:0000508 {source="Orphanet:3464"} ! syndromic intellectual disability is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:3464"} ! diabetes mellitus is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism @@ -177699,14 +177666,14 @@ def: "This syndrome is characterized by primary hypergonadotropic hypogonadism a subset: ordo_disease {source="Orphanet:2232"} synonym: "Al Awadi-Farag-Teebi syndrome" EXACT [Orphanet:2232] synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [OMIM:241090] -xref: ICD10CM:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="ORDO:2232/attributed", source="ORDO:2232/btnt"} -xref: ICD10CM:E29.1 {source="Orphanet:2232", source="ORDO:2232/attributed", source="ORDO:2232/btnt"} +xref: ICD10CM:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} +xref: ICD10CM:E29.1 {source="Orphanet:2232", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} xref: MESH:C567109 {source="MONDO:equivalentTo"} -xref: OMIM:241090 {source="Orphanet:2232", source="ORDO:2232/e", source="MONDO:equivalentTo"} +xref: OMIM:241090 {source="Orphanet:2232", source="MONDO:equivalentTo", source="Orphanet:2232/e"} xref: Orphanet:2232 {source="MONDO:equivalentTo", source="OMIM:241090"} xref: SCTID:719275009 {source="MONDO:equivalentTo"} xref: UMLS:C2673480 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241090"} -xref: UMLS:C2931374 {source="Orphanet:2232", source="ORDO:2232/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931374 {source="Orphanet:2232", source="Orphanet:2232/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005372 {source="MONDO:0018388-obsoleted"} ! male infertility relationship: has_modifier MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: confidence "2.692307692307692" xsd:double @@ -177791,12 +177758,12 @@ subset: gard_rare {source="GARD:0002907"} subset: ordo_malformation_syndrome {source="Orphanet:1790"} synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310] xref: GARD:0002907 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.4 {source="ORDO:1790/attributed", source="ORDO:1790/ntbt", source="Orphanet:1790"} -xref: MESH:C537154 {source="MONDO:equivalentTo", source="Orphanet:1790", source="ORDO:1790/e"} -xref: OMIM:241310 {source="MONDO:equivalentTo", source="Orphanet:1790", source="ORDO:1790/e"} +xref: ICD10CM:Q75.4 {source="Orphanet:1790/attributed", source="Orphanet:1790/ntbt", source="Orphanet:1790"} +xref: MESH:C537154 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"} +xref: OMIM:241310 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"} xref: Orphanet:1790 {source="MONDO:equivalentTo", source="OMIM:241310"} xref: SCTID:721845005 {source="MONDO:equivalentTo"} -xref: UMLS:C1855848 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241310", source="Orphanet:1790", source="ORDO:1790/e"} +xref: UMLS:C1855848 {source="Orphanet:1790/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241310", source="Orphanet:1790"} is_a: MONDO:0015160 {source="Orphanet:1790", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020018 {source="Orphanet:1790"} ! cranial malformation is_a: MONDO:0021147 {source="Orphanet:1790", source="Orphanet:1790/inferred"} ! disorder of development or morphogenesis @@ -177827,12 +177794,12 @@ synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410] synonym: "SSS" EXACT ABBREVIATION [Orphanet:2323] xref: DOID:0060348 {source="MONDO:equivalentTo"} xref: GARD:0000411 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:2323", source="ORDO:2323/attributed", source="ORDO:2323/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:2323/attributed", source="Orphanet:2323/ntbt", source="Orphanet:2323"} xref: MESH:C537157 {source="MONDO:equivalentTo", source="DOID:0060348"} xref: NCIT:C133727 {source="MONDO:equivalentTo"} -xref: OMIM:241410 {source="ORDO:2323/e", source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348"} +xref: OMIM:241410 {source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="Orphanet:2323/e"} xref: Orphanet:2323 {source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"} -xref: UMLS:C1855840 {source="NCIT:C133727", source="ORDO:2323/e", source="NCBI:mim2gene_medline", source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"} +xref: UMLS:C1855840 {source="NCIT:C133727", source="NCBI:mim2gene_medline", source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410", source="Orphanet:2323/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2323", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C133727", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060348", source="MONDO:Redundant"} ! autosomal recessive disease @@ -177855,13 +177822,13 @@ synonym: "infantile Rathburn disease" EXACT [Orphanet:247651] synonym: "obsolete infantile hypophosphatasia" EXACT CLINGEN_PREFERRED [] synonym: "phosphoethanolaminuria" EXACT EXCLUDE [DOID:0110914] xref: DOID:0110914 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="ORDO:247651/attributed", source="ORDO:247651/ntbt", source="Orphanet:247651"} -xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="DOID:0110914", source="Orphanet:247651", source="ORDO:247651/e"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247651/attributed", source="Orphanet:247651/ntbt", source="Orphanet:247651"} +xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="DOID:0110914", source="Orphanet:247651"} xref: Orphanet:247623 {source="MONDO:superClassOf", source="OMIM:241500"} xref: Orphanet:247651 {source="MONDO:obsoleteEquivalent", source="DOID:0110914", source="OMIM:241500"} xref: Orphanet:436 {source="MONDO:subClassOf", source="OMIM:241500"} xref: SCTID:55236002 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0268412 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:241500", source="Orphanet:247651", source="ORDO:247651/e"} +xref: UMLS:C0268412 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="NCBI:mim2gene_medline", source="OMIM:241500", source="Orphanet:247651"} xref: UMLS:C2673477 {source="MONDO:superClassOf", source="OMIM:241500"} property_value: confidence "2.0000000000000004" xsd:double property_value: IAO:0000231 "out of scope" xsd:string @@ -177886,13 +177853,13 @@ synonym: "obsolete childhood hypophosphatasia" EXACT CLINGEN_PREFERRED [] synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0110915 {source="MONDO:obsoleteEquivalent"} xref: GARD:0008735 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247667", source="ORDO:247667/attributed", source="ORDO:247667/ntbt"} +xref: ICD10CM:E83.3 {source="Orphanet:247667/attributed", source="Orphanet:247667/ntbt", source="MONDO:relatedTo", source="Orphanet:247667"} xref: MESH:C562440 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:241510 {source="ORDO:247667/e", source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="DOID:0110915"} +xref: OMIM:241510 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="DOID:0110915", source="Orphanet:247667/e"} xref: Orphanet:247667 {source="MONDO:obsoleteEquivalent", source="DOID:0110915", source="OMIM:241510"} xref: Orphanet:436 {source="MONDO:subClassOf", source="OMIM:241510"} xref: SCTID:30174008 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0220743 {source="ORDO:247667/e", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:247667", source="OMIM:241510"} +xref: UMLS:C0220743 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:247667", source="Orphanet:247667/e", source="OMIM:241510"} property_value: confidence "2.0000000000000004" xsd:double property_value: IAO:0000231 "out of scope" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2906 xsd:string @@ -177928,7 +177895,7 @@ xref: OMIM:241520 {source="MONDO:equivalentTo"} xref: Orphanet:289176 {source="MONDO:subClassOf", source="OMIM:241520"} xref: UMLS:C0342643 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:241520"} is_a: MONDO:0000044 {source="MONDO:0009430/inferred", source="MONDO:Redundant", source="OMIM:241520", source="indirect"} ! hereditary hypophosphatemic rickets -is_a: MONDO:0017324 {source="MONDO:Redundant", source="ORDO:289176/btnt"} ! autosomal recessive hypophosphatemic rickets +is_a: MONDO:0017324 {source="MONDO:Redundant", source="Orphanet:289176/btnt"} ! autosomal recessive hypophosphatemic rickets intersection_of: MONDO:0017324 ! autosomal recessive hypophosphatemic rickets intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2932 ! DMP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2932 {source="mim2gene_medgen"} ! DMP1 @@ -177948,10 +177915,10 @@ synonym: "hypophosphatemic hypercalciuric rickets" EXACT [NCIT:C131450] synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [OMIM:241530, OMIM:genemap2] synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical, OMIM:241530] xref: DOID:0050947 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:157215", source="ORDO:157215/attributed", source="ORDO:157215/ntbt"} +xref: ICD10CM:E83.3 {source="Orphanet:157215/attributed", source="Orphanet:157215/ntbt", source="MONDO:relatedTo", source="Orphanet:157215"} xref: MESH:C562793 {source="MONDO:equivalentTo"} xref: NCIT:C131450 {source="MONDO:equivalentTo"} -xref: OMIM:241530 {source="Orphanet:157215", source="ORDO:157215/e", source="MONDO:equivalentTo", source="DOID:0050947"} +xref: OMIM:241530 {source="Orphanet:157215", source="MONDO:equivalentTo", source="Orphanet:157215/e", source="DOID:0050947"} xref: Orphanet:157215 {source="MONDO:equivalentTo", source="OMIM:241530"} xref: SCTID:237891005 {source="MONDO:equivalentTo"} xref: UMLS:C0342645 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241530"} @@ -178026,9 +177993,9 @@ synonym: "hypospadias mental retardation syndrome" RELATED DEPRECATED [GARD:0002 synonym: "hypospadias-intellectual disability syndrome" RELATED [OMIM:241760] synonym: "hypospadias-mental retardation syndrome" RELATED DEPRECATED [OMIM:241760] xref: GARD:0002928 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2261", source="ORDO:2261/attributed", source="ORDO:2261/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2261/attributed", source="Orphanet:2261/ntbt", source="Orphanet:2261"} xref: MESH:C563067 {source="MONDO:equivalentTo"} -xref: OMIM:241760 {source="MONDO:equivalentTo", source="Orphanet:2261", source="ORDO:2261/e", source="GARD:0002928"} +xref: OMIM:241760 {source="Orphanet:2261/e", source="MONDO:equivalentTo", source="Orphanet:2261", source="GARD:0002928"} xref: Orphanet:2261 {source="MONDO:equivalentTo", source="OMIM:241760", source="GARD:0002928"} xref: SCTID:716096005 {source="MONDO:equivalentTo"} xref: UMLS:C0795989 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241760", source="GARD:0002928"} @@ -178079,12 +178046,12 @@ synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft pal synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226] xref: DOID:0050655 {source="MONDO:equivalentTo"} xref: GARD:0000414 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E03.1 {source="ORDO:1226/attributed", source="ORDO:1226/ntbt", source="Orphanet:1226"} -xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="ORDO:1226/e"} -xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="ORDO:1226/e"} +xref: ICD10CM:E03.1 {source="Orphanet:1226", source="Orphanet:1226/attributed", source="Orphanet:1226/ntbt"} +xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="Orphanet:1226/e"} +xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="Orphanet:1226/e"} xref: Orphanet:1226 {source="MONDO:equivalentTo", source="OMIM:241850"} xref: SCTID:722375007 {source="MONDO:equivalentTo"} -xref: UMLS:C1855794 {source="NCBI:mim2gene_medline", source="Orphanet:1226", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1226/e", source="OMIM:241850"} +xref: UMLS:C1855794 {source="NCBI:mim2gene_medline", source="Orphanet:1226", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241850", source="Orphanet:1226/e"} xref: UMLS:C1968699 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:241850"} is_a: MONDO:0015335 {source="Orphanet:1226"} ! orofacial clefting syndrome is_a: MONDO:0015778 {source="Orphanet:1226"} ! syndromic hypothyroidism @@ -178099,7 +178066,7 @@ xref: MESH:C565475 {source="MONDO:equivalentTo"} xref: OMIM:242050 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="MONDO:subClassOf", source="OMIM:242050"} xref: UMLS:C1855793 {source="OMIM:242050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009071 {source="ORDO:94088/btnt"} ! hereditary renal hypouricemia +is_a: MONDO:0009071 {source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia property_value: confidence "2.124285714285714" xsd:double [Term] @@ -178131,9 +178098,9 @@ xref: Orphanet:79394 {source="MONDO:subClassOf", source="OMIM:242100"} xref: UMLS:C1855789 {source="MONDO:subClassOf", source="OMIM:242100"} xref: UMLS:C1855792 {source="NCIT:C132827", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:242100", source="indirect"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0017267 {source="MONDO:Redundant", source="ORDO:281122/btnt", source="indirect"} ! self-healing collodion baby +is_a: MONDO:0017267 {source="MONDO:Redundant", source="Orphanet:281122/btnt", source="indirect"} ! self-healing collodion baby is_a: MONDO:0019269 {source="MONDO:Redundant", source="NCIT:C132827", source="indirect"} ! ichthyosis -is_a: MONDO:0019306 {source="MONDO:Redundant", source="ORDO:79394/btnt", source="indirect"} ! congenital non-bullous ichthyosiform erythroderma +is_a: MONDO:0019306 {source="MONDO:Redundant", source="Orphanet:79394/btnt", source="indirect"} ! congenital non-bullous ichthyosiform erythroderma relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:242100"} ! Autosomal recessive inheritance relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -178153,7 +178120,7 @@ xref: OMIM:242150 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="MONDO:subClassOf", source="OMIM:242150"} xref: SCTID:403780007 {source="MONDO:equivalentTo"} xref: UMLS:C1275089 {source="OMIM:242150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018781 {source="ORDO:477/btnt"} ! KID syndrome +is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome property_value: confidence "1.5132275132275135" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/551 xsd:string @@ -178234,14 +178201,14 @@ synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4, OMIM:242500] xref: DOID:0060713 {source="MONDO:equivalentTo"} xref: GARD:0006568 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q80.4 {source="Orphanet:457", source="ORDO:457/specific", source="DOID:0060713", source="ORDO:457/e"} -xref: MedDRA:10019163 {source="Orphanet:457", source="ORDO:457/e"} +xref: ICD10CM:Q80.4 {source="Orphanet:457", source="Orphanet:457/e", source="DOID:0060713", source="Orphanet:457/specific"} +xref: MedDRA:10019163 {source="Orphanet:457", source="Orphanet:457/e"} xref: NCIT:C98934 {source="MONDO:equivalentTo"} -xref: OMIM:242500 {source="Orphanet:457", source="MONDO:equivalentTo", source="DOID:0060713", source="ORDO:457/e"} +xref: OMIM:242500 {source="Orphanet:457", source="MONDO:equivalentTo", source="Orphanet:457/e", source="DOID:0060713"} xref: Orphanet:457 {source="MONDO:equivalentTo", source="DOID:0060713", source="OMIM:242500"} xref: SCTID:205548006 {source="MONDO:equivalentTo"} -xref: UMLS:C0239849 {source="NCIT:C98934", source="Orphanet:457", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242500", source="ORDO:457/e"} -xref: UMLS:C0598226 {source="Orphanet:457", source="MONDO:notFoundInDiseaseSubset", source="OMIM:242500", source="ORDO:457/e"} +xref: UMLS:C0239849 {source="NCIT:C98934", source="Orphanet:457", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:457/e", source="OMIM:242500"} +xref: UMLS:C0598226 {source="Orphanet:457", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:457/e", source="OMIM:242500"} is_a: MONDO:0017265 {source="DC-OMIM:242500", source="DOID:0060713", source="OMIM:242500", source="Orphanet:457"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0019269 {source="MONDO:Redundant", source="NCIT:C98934", source="Orphanet:457/inferred"} ! ichthyosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14637 {source="mim2gene_medgen"} ! ABCA12 @@ -178263,9 +178230,9 @@ synonym: "Jagell Holmgren Hofer syndrome" RELATED [GARD:0000292] synonym: "Jagell-Holmgren-Hofer syndrome" EXACT [Orphanet:2269] xref: GARD:0000292 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537364 {source="MONDO:equivalentTo"} -xref: OMIM:242510 {source="Orphanet:2269", source="ORDO:2269/e", source="MONDO:equivalentTo"} +xref: OMIM:242510 {source="Orphanet:2269", source="MONDO:equivalentTo", source="Orphanet:2269/e"} xref: Orphanet:2269 {source="MONDO:equivalentTo", source="OMIM:242510"} -xref: UMLS:C1855788 {source="Orphanet:2269", source="NCBI:mim2gene_medline", source="ORDO:2269/e", source="MONDO:equivalentTo", source="OMIM:242510"} +xref: UMLS:C1855788 {source="Orphanet:2269", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242510", source="Orphanet:2269/e"} is_a: MONDO:0000508 {source="Orphanet:2269"} ! syndromic intellectual disability is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019287 {source="Orphanet:2269"} ! ectodermal dysplasia syndrome @@ -178282,13 +178249,13 @@ synonym: "Dykes-Markes-Harper syndrome" EXACT [Orphanet:2274] synonym: "Dykes-Marks-Harper syndrome" EXACT [Orphanet:2274] synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [OMIM:242520] xref: GARD:0001993 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2274/attributed", source="ORDO:2274/ntbt", source="Orphanet:2274"} +xref: ICD10CM:Q87.8 {source="Orphanet:2274/attributed", source="Orphanet:2274/ntbt", source="Orphanet:2274"} xref: ICD9:571.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535727 {source="MONDO:equivalentTo"} -xref: OMIM:242520 {source="MONDO:equivalentTo", source="Orphanet:2274", source="ORDO:2274/e"} +xref: OMIM:242520 {source="Orphanet:2274/e", source="MONDO:equivalentTo", source="Orphanet:2274"} xref: Orphanet:2274 {source="MONDO:equivalentTo", source="OMIM:242520"} xref: SCTID:403779009 {source="MONDO:equivalentTo"} -xref: UMLS:C1275088 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242520", source="Orphanet:2274", source="ORDO:2274/e"} +xref: UMLS:C1275088 {source="Orphanet:2274/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242520", source="Orphanet:2274"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0100309 {source="Orphanet:2274"} ! hereditary ataxia property_value: confidence "3.533333333333334" xsd:double @@ -178305,10 +178272,10 @@ synonym: "ichthyosis, mental retardation, dwarfism and renal impairment" RELATED synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED DEPRECATED [OMIM:242530] synonym: "Passwell-Goodman-Siprkowski syndrome" EXACT [Orphanet:2278] xref: GARD:0004641 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536274 {source="Orphanet:2278", source="ORDO:2278/e", source="MONDO:equivalentTo"} -xref: OMIM:242530 {source="Orphanet:2278", source="ORDO:2278/e", source="MONDO:equivalentTo"} +xref: MESH:C536274 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"} +xref: OMIM:242530 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"} xref: Orphanet:2278 {source="MONDO:equivalentTo", source="OMIM:242530"} -xref: UMLS:C1855787 {source="Orphanet:2278", source="ORDO:2278/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242530"} +xref: UMLS:C1855787 {source="Orphanet:2278", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242530", source="Orphanet:2278/e"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019721 {source="Orphanet:2278"} ! syndromic renal or urinary tract malformation property_value: confidence "8.6" xsd:double @@ -178331,13 +178298,13 @@ subset: ordo_disease {source="Orphanet:42062"} synonym: "iminoglycinuria" EXACT CLINGEN_PREFERRED [OMIM:242600] synonym: "iminoglycinuria, digenic" EXACT [OMIM:242600, OMIM:genemap2] xref: GARD:0008424 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="ORDO:42062/attributed", source="ORDO:42062/ntbt", source="Orphanet:42062"} +xref: ICD10CM:E72.0 {source="Orphanet:42062/attributed", source="Orphanet:42062/ntbt", source="Orphanet:42062"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536285 {source="MONDO:equivalentTo", source="ORDO:42062/e", source="Orphanet:42062"} -xref: OMIM:242600 {source="MONDO:equivalentTo", source="ORDO:42062/e", source="Orphanet:42062"} +xref: MESH:C536285 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} +xref: OMIM:242600 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} xref: Orphanet:42062 {source="MONDO:equivalentTo", source="OMIM:242600"} xref: SCTID:84121007 {source="MONDO:equivalentTo"} -xref: UMLS:C0268654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:42062/e", source="Orphanet:42062", source="OMIM:242600"} +xref: UMLS:C0268654 {source="Orphanet:42062/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:42062", source="OMIM:242600"} is_a: MONDO:0017687 {source="Orphanet:42062"} ! disorder of neutral amino acid transport relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "4.277777777777778" xsd:double @@ -178389,10 +178356,10 @@ synonym: "T-lymphocyte deficiency" EXACT [DOID:2012, OMIM:242700] synonym: "thymic aplasia" RELATED [OMIM:242700] xref: DOID:2012 {source="MONDO:equivalentTo"} xref: GARD:0007201 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D81.4 {source="DOID:2012", source="ORDO:83471/specific", source="ORDO:83471/e", source="Orphanet:83471"} +xref: ICD10CM:D81.4 {source="Orphanet:83471/specific", source="DOID:2012", source="Orphanet:83471/e", source="Orphanet:83471"} xref: ICD9:279.13 {source="DOID:2012"} xref: MESH:C536288 {source="DOID:2012", source="MONDO:equivalentTo"} -xref: OMIM:242700 {source="DOID:2012", source="MONDO:equivalentTo", source="ORDO:83471/e", source="Orphanet:83471"} +xref: OMIM:242700 {source="DOID:2012", source="Orphanet:83471/e", source="MONDO:equivalentTo", source="Orphanet:83471"} xref: Orphanet:83471 {source="MONDO:equivalentTo", source="OMIM:242700"} xref: SCTID:55602000 {source="DOID:2012", source="MONDO:equivalentTo"} xref: UMLS:C0152094 {source="DOID:2012", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83471", source="OMIM:242700"} @@ -178421,13 +178388,13 @@ synonym: "Vici syndrome" EXACT [MONDO:Lexical, OMIM:242840] synonym: "VICIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242840] xref: DOID:0060356 {source="MONDO:equivalentTo"} xref: GARD:0000448 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1493/attributed", source="ORDO:1493/ntbt", source="Orphanet:1493"} +xref: ICD10CM:Q87.8 {source="Orphanet:1493/attributed", source="Orphanet:1493/ntbt", source="Orphanet:1493"} xref: MESH:C535566 {source="DOID:0060356", source="MONDO:equivalentTo"} xref: NCIT:C138174 {source="MONDO:equivalentTo"} -xref: OMIM:242840 {source="DOID:0060356", source="MONDO:equivalentTo", source="Orphanet:1493", source="ORDO:1493/e"} +xref: OMIM:242840 {source="DOID:0060356", source="Orphanet:1493/e", source="MONDO:equivalentTo", source="Orphanet:1493"} xref: Orphanet:1493 {source="DOID:0060356", source="MONDO:equivalentTo", source="OMIM:242840"} xref: SCTID:719824001 {source="MONDO:equivalentTo"} -xref: UMLS:C1855772 {source="DOID:0060356", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242840", source="Orphanet:1493", source="ORDO:1493/e"} +xref: UMLS:C1855772 {source="DOID:0060356", source="Orphanet:1493/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:242840", source="Orphanet:1493"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C138174", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060356", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:1493", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -178528,14 +178495,14 @@ synonym: "spondyloepiphyseal dysplasia nephrotic syndrome" RELATED [GARD:0004984 synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830] xref: DOID:0060490 {source="MONDO:equivalentTo"} xref: GARD:0004984 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:1830/attributed", source="ORDO:1830/ntbt", source="Orphanet:1830"} -xref: MedDRA:10048699 {source="ORDO:1830/e", source="Orphanet:1830"} -xref: MESH:C536629 {source="ORDO:1830/e", source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490"} +xref: ICD10CM:Q77.7 {source="Orphanet:1830", source="Orphanet:1830/attributed", source="Orphanet:1830/ntbt"} +xref: MedDRA:10048699 {source="Orphanet:1830", source="Orphanet:1830/e"} +xref: MESH:C536629 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} xref: NCIT:C135087 {source="MONDO:equivalentTo"} -xref: OMIM:242900 {source="ORDO:1830/e", source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490"} +xref: OMIM:242900 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} xref: Orphanet:1830 {source="OMIM:242900", source="MONDO:equivalentTo", source="DOID:0060490"} xref: SCTID:723995003 {source="MONDO:equivalentTo"} -xref: UMLS:C0877024 {source="OMIM:242900", source="ORDO:1830/e", source="NCBI:mim2gene_medline", source="NCIT:C135087", source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490"} +xref: UMLS:C0877024 {source="OMIM:242900", source="NCBI:mim2gene_medline", source="NCIT:C135087", source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} is_a: MONDO:0015163 {source="Orphanet:1830"} ! primary glomerular disease is_a: MONDO:0015708 {source="Orphanet:1830"} ! immuno-osseous dysplasia is_a: MONDO:0016761 {source="DOID:0060490", source="Orphanet:1830"} ! spondyloepiphyseal dysplasia @@ -178559,14 +178526,14 @@ synonym: "insensitivity to pain, congenital" EXACT [OMIM:243000, OMIM:genemap2] synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [OMIM:243000] synonym: "neuropathy, hereditary sensory and autonomic, type IID" EXACT [OMIM:243000, OMIM:genemap2] xref: GARD:0012267 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.8 {source="Orphanet:88642", source="ORDO:88642/attributed", source="ORDO:88642/ntbt"} -xref: MESH:D000699 {source="Orphanet:88642", source="ORDO:88642/e"} -xref: MESH:D009477 {source="MONDO:subClassOf", source="Orphanet:88642", source="ORDO:88642/e"} -xref: OMIM:243000 {source="Orphanet:88642", source="MONDO:equivalentTo", source="ORDO:88642/e"} +xref: ICD10CM:G60.8 {source="Orphanet:88642", source="Orphanet:88642/attributed", source="Orphanet:88642/ntbt"} +xref: MESH:D000699 {source="Orphanet:88642", source="Orphanet:88642/e"} +xref: MESH:D009477 {source="MONDO:subClassOf", source="Orphanet:88642", source="Orphanet:88642/e"} +xref: OMIM:243000 {source="Orphanet:88642", source="MONDO:equivalentTo", source="Orphanet:88642/e"} xref: Orphanet:88642 {source="MONDO:equivalentTo", source="OMIM:243000"} xref: Orphanet:970 {source="MONDO:superClassOf", source="OMIM:243000"} -xref: UMLS:C0002768 {source="Orphanet:88642", source="MONDO:notFoundInDiseaseSubset", source="ORDO:88642/e"} -xref: UMLS:C0020075 {source="Orphanet:88642", source="MONDO:notFoundInDiseaseSubset", source="ORDO:88642/e"} +xref: UMLS:C0002768 {source="Orphanet:88642", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88642/e"} +xref: UMLS:C0020075 {source="Orphanet:88642", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88642/e"} xref: UMLS:C1855739 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243000"} is_a: MONDO:0015366 {source="Orphanet:88642"} ! autosomal recessive hereditary sensory and autonomic neuropathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10597 {source="mim2gene_medgen"} ! SCN9A @@ -178601,13 +178568,13 @@ synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1, OMIM:243060] synonym: "SPGF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243060] xref: DOID:0070183 {source="MONDO:equivalentTo"} xref: GARD:0012385 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:137893/attributed", source="ORDO:137893/ntbt", source="Orphanet:137893"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:137893/attributed", source="Orphanet:137893/ntbt", source="Orphanet:137893"} xref: MESH:C562903 {source="MONDO:equivalentTo"} -xref: OMIM:243060 {source="MONDO:equivalentTo", source="Orphanet:137893", source="ORDO:137893/e"} +xref: OMIM:243060 {source="Orphanet:137893/e", source="MONDO:equivalentTo", source="Orphanet:137893"} xref: Orphanet:137893 {source="OMIM:243060", source="MONDO:equivalentTo"} xref: Orphanet:399808 {source="MONDO:subClassOf", source="OMIM:243060"} xref: SCTID:236806004 {source="MONDO:equivalentTo"} -xref: UMLS:C0403812 {source="OMIM:243060", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137893", source="ORDO:137893/e"} +xref: UMLS:C0403812 {source="OMIM:243060", source="Orphanet:137893/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137893"} is_a: MONDO:0004983 {source="DC-OMIM:243060", source="OMIM:243060"} ! azoospermia is_a: MONDO:0018394 {source="Orphanet:137893"} ! male infertility with teratozoospermia due to single gene mutation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11391 {source="mim2gene_medgen"} ! AURKC @@ -178660,16 +178627,16 @@ synonym: "multiple gastrointestinal atresias" EXACT [DOID:14671] synonym: "multiple intestinal atresia" EXACT CLINGEN_PREFERRED [] xref: DOID:14671 {source="MONDO:equivalentTo"} xref: GARD:0003013 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q43.8 {source="Orphanet:2300", source="ORDO:2300/attributed", source="ORDO:2300/ntbt"} -xref: ICD10CM:Q82.8 {source="ORDO:436252/attributed", source="ORDO:436252/ntbt", source="Orphanet:436252"} +xref: ICD10CM:Q43.8 {source="Orphanet:2300", source="Orphanet:2300/attributed", source="Orphanet:2300/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:436252/attributed", source="Orphanet:436252/ntbt", source="Orphanet:436252"} xref: ICD9:751.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10028210 {source="Orphanet:2300", source="ORDO:2300/e"} +xref: MedDRA:10028210 {source="Orphanet:2300", source="Orphanet:2300/e"} xref: MESH:C562441 {source="MONDO:equivalentTo", source="DOID:14671"} -xref: OMIM:243150 {source="Orphanet:2300", source="MONDO:relatedTo", source="ORDO:2300/ntbt", source="ORDO:436252/e", source="DOID:14671", source="Orphanet:436252"} +xref: OMIM:243150 {source="Orphanet:436252/e", source="Orphanet:2300", source="MONDO:relatedTo", source="Orphanet:2300/ntbt", source="DOID:14671", source="Orphanet:436252"} xref: Orphanet:2300 {source="OMIM:243150", source="MONDO:equivalentTo"} xref: Orphanet:436252 {source="MONDO:relatedTo"} xref: SCTID:95472001 {source="MONDO:equivalentTo", source="DOID:14671"} -xref: UMLS:C0220744 {source="Orphanet:2300", source="OMIM:243150", source="ORDO:2300/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:14671"} +xref: UMLS:C0220744 {source="Orphanet:2300", source="OMIM:243150", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2300/e", source="DOID:14671"} is_a: MONDO:0006025 {source="DOID:14671", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015211 {source="Orphanet:2300"} ! non-syndromic intestinal malformation is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity @@ -178695,11 +178662,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1654"} synonym: "intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth" RELATED [OMIM:243185] synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" RELATED [GARD:0003928] xref: GARD:0003928 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1654/attributed", source="ORDO:1654/ntbt", source="Orphanet:1654"} +xref: ICD10CM:Q87.8 {source="Orphanet:1654", source="Orphanet:1654/attributed", source="Orphanet:1654/ntbt"} xref: MESH:C538341 {source="MONDO:equivalentTo"} -xref: OMIM:243185 {source="ORDO:1654/e", source="MONDO:equivalentTo", source="Orphanet:1654"} +xref: OMIM:243185 {source="MONDO:equivalentTo", source="Orphanet:1654", source="Orphanet:1654/e"} xref: Orphanet:1654 {source="MONDO:equivalentObsolete", source="OMIM:243185"} -xref: UMLS:C1855732 {source="ORDO:1654/e", source="NCBI:mim2gene_medline", source="OMIM:243185", source="MONDO:equivalentTo", source="Orphanet:1654"} +xref: UMLS:C1855732 {source="NCBI:mim2gene_medline", source="OMIM:243185", source="MONDO:equivalentTo", source="Orphanet:1654", source="Orphanet:1654/e"} is_a: MONDO:0021147 {source="Orphanet:1654", source="Orphanet:1654/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: confidence "8.6" xsd:double @@ -178719,12 +178686,12 @@ synonym: "pseudotumor cerebri" EXACT [DOID:11459, OMIM:243200, Orphanet:238624] xref: DOID:11459 {source="EFO:1001132", source="MONDO:equivalentTo"} xref: EFO:1001132 {source="MONDO:equivalentTo"} xref: GARD:0004561 {source="MONDO:equivalentTo"} -xref: ICD10CM:G93.2 {source="DOID:11459", source="Orphanet:238624", source="ORDO:238624/e"} +xref: ICD10CM:G93.2 {source="DOID:11459", source="Orphanet:238624", source="Orphanet:238624/e"} xref: ICD9:348.2 {source="DOID:11459", source="MONDO:equivalentTo", source="i2s"} xref: MedDRA:10037149 {source="EFO:1001132"} xref: MESH:D011559 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo"} xref: NCIT:C85035 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo"} -xref: OMIM:243200 {source="DOID:11459", source="Orphanet:238624", source="ORDO:238624/e", source="MONDO:equivalentTo"} +xref: OMIM:243200 {source="DOID:11459", source="Orphanet:238624", source="MONDO:equivalentTo", source="Orphanet:238624/e"} xref: Orphanet:238624 {source="MONDO:equivalentTo", source="OMIM:243200"} xref: SCTID:155052007 {source="DOID:11459"} xref: SCTID:267701004 {source="DOID:11459"} @@ -178755,13 +178722,13 @@ synonym: "recurrent familial intrahepatic cholestasis 1" RELATED [GARD:0010028] synonym: "Summerskill syndrome" RELATED [GARD:0010028, OMIM:243300] xref: DOID:0070231 {source="MONDO:equivalentTo"} xref: GARD:0010028 {source="MONDO:equivalentTo"} -xref: ICD10CM:K83.1 {source="ORDO:99960/attributed", source="ORDO:99960/ntbt", source="Orphanet:99960"} -xref: MESH:C535930 {source="ORDO:99960/e", source="Orphanet:99960"} -xref: OMIM:243300 {source="MONDO:equivalentTo", source="GARD:0010028", source="ORDO:99960/e", source="Orphanet:99960"} +xref: ICD10CM:K83.1 {source="Orphanet:99960/attributed", source="Orphanet:99960/ntbt", source="Orphanet:99960"} +xref: MESH:C535930 {source="Orphanet:99960/e", source="Orphanet:99960"} +xref: OMIM:243300 {source="Orphanet:99960/e", source="MONDO:equivalentTo", source="GARD:0010028", source="Orphanet:99960"} xref: Orphanet:65682 {source="MONDO:subClassOf", source="OMIM:243300"} xref: Orphanet:99960 {source="MONDO:equivalentTo", source="OMIM:243300"} xref: UMLS:C0268312 {source="MONDO:subClassOf", source="OMIM:243300"} -xref: UMLS:C1855731 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0010028", source="ORDO:99960/e", source="Orphanet:99960"} +xref: UMLS:C1855731 {source="Orphanet:99960/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0010028", source="Orphanet:99960"} is_a: MONDO:0015762 ! progressive familial intrahepatic cholestasis is_a: MONDO:0019008 {source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis intersection_of: MONDO:0019008 ! benign recurrent intrahepatic cholestasis @@ -178814,14 +178781,13 @@ xref: MESH:C565461 {source="MONDO:equivalentTo"} xref: OMIM:243320 {source="MONDO:equivalentTo"} xref: Orphanet:332 {source="MONDO:subClassOf", source="OMIM:243320"} xref: UMLS:C1855721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243320"} -is_a: MONDO:0009852 {source="ORDO:332/btnt"} ! hereditary intrinsic factor deficiency +is_a: MONDO:0009852 {source="Orphanet:332/btnt"} ! hereditary intrinsic factor deficiency property_value: confidence "2.2500000000000004" xsd:double [Term] id: MONDO:0009472 name: acetylation, slow synonym: "acetylation, Fast" RELATED [OMIM:243400] -synonym: "acetylation, slow" EXACT [OMIM:243400] synonym: "acetylation, slow" EXACT [OMIM:243400, OMIM:genemap2] synonym: "Fast acetylator phenotype" RELATED [OMIM:243400] synonym: "INH inactivation, Fast" RELATED [OMIM:243400] @@ -178851,9 +178817,9 @@ synonym: "microtia-aortic Arch syndrome" RELATED [OMIM:243440] synonym: "microtia-aortic arch syndrome" EXACT [Orphanet:2306] synonym: "syndrome of microtia and aortic arch anomalies" RELATED [GARD:0009675] xref: GARD:0009675 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2306/attributed", source="ORDO:2306/ntbt", source="Orphanet:2306"} +xref: ICD10CM:Q87.8 {source="Orphanet:2306", source="Orphanet:2306/attributed", source="Orphanet:2306/ntbt"} xref: MESH:C535542 {source="MONDO:equivalentTo"} -xref: OMIM:243440 {source="MONDO:equivalentTo", source="Orphanet:2306", source="ORDO:2306/e"} +xref: OMIM:243440 {source="MONDO:equivalentTo", source="Orphanet:2306", source="Orphanet:2306/e"} xref: Orphanet:2306 {source="MONDO:equivalentTo", source="OMIM:243440"} xref: SCTID:722006004 {source="MONDO:equivalentTo"} xref: UMLS:C0432364 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:243440", source="Orphanet:2306"} @@ -178889,14 +178855,14 @@ synonym: "IVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243500] synonym: "IVD deficiency" RELATED [OMIM:243500] xref: DOID:14753 {source="MONDO:equivalentTo"} xref: GARD:0000465 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="Orphanet:33", source="ORDO:33/inclusion", source="ORDO:33/ntbt"} +xref: ICD10CM:E71.1 {source="Orphanet:33/ntbt", source="Orphanet:33", source="Orphanet:33/inclusion"} xref: ICD10CM:E71.110 {source="MONDO:equivalentTo", source="DOID:14753"} -xref: MESH:C538167 {source="ORDO:33/e", source="Orphanet:33", source="MONDO:equivalentTo", source="DOID:14753"} +xref: MESH:C538167 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"} xref: NCIT:C98964 {source="MONDO:equivalentTo", source="DOID:14753"} -xref: OMIM:243500 {source="ORDO:33/e", source="Orphanet:33", source="MONDO:equivalentTo", source="DOID:14753"} +xref: OMIM:243500 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"} xref: Orphanet:33 {source="MONDO:equivalentTo", source="OMIM:243500"} xref: SCTID:87827003 {source="MONDO:equivalentTo", source="DOID:14753"} -xref: UMLS:C0268575 {source="ORDO:33/e", source="Orphanet:33", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243500", source="DOID:14753", source="NCIT:C98964"} +xref: UMLS:C0268575 {source="Orphanet:33", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:33/e", source="OMIM:243500", source="DOID:14753", source="NCIT:C98964"} is_a: MONDO:0000688 {source="DOID:14753", source="MONDO:Redundant", source="NCIT:C98964", source="Orphanet:33/inferred", source="linkedlifedata"} ! inherited organic acidemia is_a: MONDO:0019215 {source="Orphanet:33"} ! classic organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6186 {source="mim2gene_medgen"} ! IVD @@ -178924,19 +178890,19 @@ synonym: "small intestinal atresia" EXACT [Orphanet:1201] synonym: "small intestine atresia" EXACT [GARD:0000140, NCIT:C98828] xref: GARD:0000140 {source="MONDO:equivalentTo"} xref: GARD:0006799 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q41.0 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"} -xref: ICD10CM:Q41.1 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"} -xref: ICD10CM:Q41.2 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"} -xref: ICD10CM:Q41.8 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"} -xref: ICD10CM:Q41.9 {source="ORDO:1201/specific", source="Orphanet:1201", source="ORDO:1201/btnt"} -xref: MedDRA:10010626 {source="ORDO:1201/e", source="Orphanet:1201"} -xref: MESH:C538260 {source="ORDO:1201/e", source="Orphanet:1201", source="MONDO:equivalentTo"} +xref: ICD10CM:Q41.0 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} +xref: ICD10CM:Q41.1 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} +xref: ICD10CM:Q41.2 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} +xref: ICD10CM:Q41.8 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} +xref: ICD10CM:Q41.9 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} +xref: MedDRA:10010626 {source="Orphanet:1201", source="Orphanet:1201/e"} +xref: MESH:C538260 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"} xref: NCIT:C98828 {source="MONDO:equivalentTo"} -xref: OMIM:243600 {source="ORDO:1201/e", source="Orphanet:1201", source="MONDO:equivalentTo"} +xref: OMIM:243600 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"} xref: Orphanet:1201 {source="MONDO:equivalentTo", source="OMIM:243600", source="GARD:0000140"} xref: UMLS:C0021828 {source="MONDO:relatedTo", source="Orphanet:1201"} -xref: UMLS:C0266172 {source="ORDO:1201/e", source="NCIT:C98828", source="Orphanet:1201", source="MONDO:equivalentTo", source="GARD:0000140"} -xref: UMLS:C0266175 {source="ORDO:1201/e", source="NCBI:mim2gene_medline", source="Orphanet:1201", source="MONDO:notFoundInDiseaseSubset", source="OMIM:243600"} +xref: UMLS:C0266172 {source="NCIT:C98828", source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e", source="GARD:0000140"} +xref: UMLS:C0266175 {source="NCBI:mim2gene_medline", source="Orphanet:1201", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1201/e", source="OMIM:243600"} is_a: MONDO:0015211 {source="Orphanet:1201"} ! non-syndromic intestinal malformation is_a: MONDO:0018241 {source="Orphanet:1201"} ! primary short bowel syndrome property_value: confidence "7.125" xsd:double @@ -178960,10 +178926,10 @@ synonym: "Stromme syndrome" EXACT [OMIM:243605] synonym: "STROMS" RELATED ABBREVIATION [OMIM:243605] xref: DOID:0110595 {source="MONDO:equivalentTo"} xref: EFO:0009160 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:444069", source="ORDO:444069/attributed", source="ORDO:444069/ntbt", source="DOID:0110595"} +xref: ICD10CM:Q87.8 {source="Orphanet:444069", source="Orphanet:444069/attributed", source="Orphanet:444069/ntbt", source="DOID:0110595"} xref: MESH:C565460 {source="MONDO:equivalentTo"} -xref: OMIM:243605 {source="Orphanet:444069", source="Orphanet:506307", source="MONDO:equivalentTo", source="ORDO:444069/nd", source="DOID:0110595"} -xref: OMIM:616369 {source="Orphanet:444069", source="ORDO:444069/e", source="MONDO:equivalentObsolete"} +xref: OMIM:243605 {source="Orphanet:444069", source="Orphanet:506307", source="Orphanet:444069/nd", source="MONDO:equivalentTo", source="DOID:0110595"} +xref: OMIM:616369 {source="Orphanet:444069", source="MONDO:equivalentObsolete", source="Orphanet:444069/e"} xref: Orphanet:444069 {source="MONDO:equivalentTo"} xref: Orphanet:506307 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C1855705 {source="OMIM:243605", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -179002,9 +178968,9 @@ synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [ synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [OMIM:243700] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" RELATED [GARD:0002816] xref: GARD:0002816 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.1 {source="Orphanet:217390", source="ORDO:217390/attributed", source="ORDO:217390/ntbt"} +xref: ICD10CM:D81.1 {source="Orphanet:217390/attributed", source="Orphanet:217390/ntbt", source="Orphanet:217390"} xref: NCIT:C126343 {source="MONDO:equivalentTo"} -xref: OMIM:243700 {source="ORDO:217390/e", source="Orphanet:217390", source="MONDO:equivalentTo", source="GARD:0002816"} +xref: OMIM:243700 {source="Orphanet:217390", source="MONDO:equivalentTo", source="Orphanet:217390/e", source="GARD:0002816"} xref: Orphanet:169446 {source="OMIM:243700", source="GARD:0002816"} xref: Orphanet:217390 {source="MONDO:equivalentTo", source="OMIM:243700"} xref: UMLS:C1968689 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:243700", source="GARD:0002816"} @@ -179029,18 +178995,18 @@ synonym: "pancreatic insufficiency, combined exocrine" EXACT [OMIM:260450] xref: DOID:14694 {source="MONDO:equivalentTo"} xref: EFO:0001063 {source="MONDO:equivalentTo"} xref: GARD:0000080 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2315/attributed", source="ORDO:2315/ntbt", source="Orphanet:2315"} +xref: ICD10CM:Q87.8 {source="Orphanet:2315", source="Orphanet:2315/attributed", source="Orphanet:2315/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="ORDO:2315/e", source="DOID:14694"} +xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="Orphanet:2315/e"} xref: MESH:C564907 {source="MONDO:equivalentTo"} xref: MESH:D003638 {source="EFO:0001063"} xref: NCIT:C27644 {source="EFO:0001063"} -xref: OMIM:243800 {source="MONDO:equivalentTo", source="Orphanet:2315", source="ORDO:2315/e", source="DOID:14694", source="GARD:0000080", source="EFO:0001063"} +xref: OMIM:243800 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="GARD:0000080", source="Orphanet:2315/e", source="EFO:0001063"} xref: OMIM:260450 {source="MONDO:equivalentObsolete"} xref: Orphanet:2315 {source="MONDO:equivalentTo", source="GARD:0000080", source="OMIM:243800"} xref: SCTID:162344009 {source="EFO:0001063"} xref: SCTID:75979009 {source="MONDO:equivalentTo", source="DOID:14694"} -xref: UMLS:C0175692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2315", source="ORDO:2315/e", source="DOID:14694", source="OMIM:243800"} +xref: UMLS:C0175692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="Orphanet:2315/e", source="OMIM:243800"} xref: UMLS:C1850081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260450"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2315", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0005365 {source="EFO:0001063", source="MESH:C535880/inferred", source="MONDO:Redundant"} ! hearing loss disorder @@ -179079,15 +179045,15 @@ synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [Orphanet:2318] synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318] synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318] xref: GARD:0009455 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:2318/attributed", source="ORDO:2318/ntbt", source="Orphanet:2318"} +xref: ICD10CM:Q04.3 {source="Orphanet:2318/attributed", source="Orphanet:2318/ntbt", source="Orphanet:2318"} xref: MESH:C537430 {source="MONDO:equivalentTo"} -xref: OMIM:243910 {source="MONDO:equivalentTo", source="ORDO:2318/e", source="Orphanet:2318", source="GARD:0009455"} -xref: OMIM:608091 {source="ORDO:2318/btnt", source="MONDO:superClassOf", source="Orphanet:2318"} -xref: OMIM:610188 {source="ORDO:2318/btnt", source="MONDO:superClassOf", source="Orphanet:2318"} -xref: OMIM:612285 {source="ORDO:2318/btnt", source="MONDO:superClassOf", source="Orphanet:2318"} -xref: OMIM:614424 {source="ORDO:2318/btnt", source="MONDO:superClassOf", source="Orphanet:2318"} -xref: OMIM:614465 {source="ORDO:2318/btnt", source="MONDO:superClassOf", source="Orphanet:2318"} -xref: OMIM:614844 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:2318/ntbt", source="Orphanet:2318"} +xref: OMIM:243910 {source="Orphanet:2318/e", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455"} +xref: OMIM:608091 {source="MONDO:superClassOf", source="Orphanet:2318/btnt", source="Orphanet:2318"} +xref: OMIM:610188 {source="MONDO:superClassOf", source="Orphanet:2318/btnt", source="Orphanet:2318"} +xref: OMIM:612285 {source="MONDO:superClassOf", source="Orphanet:2318/btnt", source="Orphanet:2318"} +xref: OMIM:614424 {source="MONDO:superClassOf", source="Orphanet:2318/btnt", source="Orphanet:2318"} +xref: OMIM:614465 {source="MONDO:superClassOf", source="Orphanet:2318/btnt", source="Orphanet:2318"} +xref: OMIM:614844 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:2318/ntbt", source="Orphanet:2318"} xref: Orphanet:2318 {source="MONDO:equivalentTo", source="GARD:0009455", source="OMIM:243910"} xref: SCTID:721862000 {source="MONDO:equivalentTo"} xref: UMLS:C1855675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455", source="OMIM:243910"} @@ -179128,7 +179094,7 @@ xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:244200"} xref: UMLS:C2930927 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3550478 {source="MONDO:equivalentTo", source="OMIM:244200"} is_a: MONDO:0018555 {source="DOID:0090092", source="MONDO:0009482/inferred", source="MONDO:Redundant", source="OMIM:244200", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15836 ! PROKR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15836 {source="mim2gene_medgen"} ! PROKR2 @@ -179146,12 +179112,12 @@ synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300] synonym: "long columella with cleft lip/palate and eye, heart and intestinal anomalies" RELATED [GARD:0003078] synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [OMIM:244300] xref: GARD:0003078 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2328/attributed", source="ORDO:2328/ntbt", source="Orphanet:2328"} -xref: MESH:C537008 {source="MONDO:equivalentTo", source="Orphanet:2328", source="ORDO:2328/e"} -xref: OMIM:244300 {source="MONDO:equivalentTo", source="Orphanet:2328", source="ORDO:2328/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2328", source="Orphanet:2328/attributed", source="Orphanet:2328/ntbt"} +xref: MESH:C537008 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"} +xref: OMIM:244300 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"} xref: Orphanet:2328 {source="MONDO:equivalentTo", source="OMIM:244300"} xref: SCTID:722031003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796005 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2328", source="OMIM:244300", source="ORDO:2328/e"} +xref: UMLS:C0796005 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2328", source="OMIM:244300", source="Orphanet:2328/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2328", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2328"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015335 {source="Orphanet:2328"} ! orofacial clefting syndrome @@ -179203,12 +179169,12 @@ synonym: "severe intellectual disability, microcephaly, long narrow face, ocular synonym: "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED DEPRECATED [GARD:0003084] xref: DOID:0111456 {source="MONDO:equivalentTo"} xref: GARD:0003084 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:2707/attributed", source="ORDO:2707/ntbt", source="Orphanet:2707"} -xref: MESH:C537013 {source="MONDO:equivalentTo", source="ORDO:2707/e", source="Orphanet:2707"} -xref: OMIM:244450 {source="MONDO:equivalentTo", source="ORDO:2707/e", source="Orphanet:2707"} +xref: ICD10CM:Q87.0 {source="Orphanet:2707/attributed", source="Orphanet:2707/ntbt", source="Orphanet:2707"} +xref: MESH:C537013 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} +xref: OMIM:244450 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} xref: Orphanet:2707 {source="OMIM:244450", source="MONDO:equivalentTo"} xref: SCTID:722056009 {source="MONDO:equivalentTo"} -xref: UMLS:C1855663 {source="NCBI:mim2gene_medline", source="OMIM:244450", source="MONDO:equivalentTo", source="ORDO:2707/e", source="Orphanet:2707"} +xref: UMLS:C1855663 {source="NCBI:mim2gene_medline", source="OMIM:244450", source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2707", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2707"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020145 {source="Orphanet:2707", source="Orphanet:2707/inferred"} ! developmental defect of the eye @@ -179228,10 +179194,10 @@ synonym: "Kenny-Caffey syndrome type 1" EXACT [NCIT:C130992] synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [GARD:0008367, MONDO:patterns/autosomal_recessive, OMIM:244460] synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical, OMIM:244460] xref: GARD:0008367 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:93324/attributed", source="ORDO:93324/ntbt", source="Orphanet:93324"} +xref: ICD10CM:Q87.1 {source="Orphanet:93324", source="Orphanet:93324/attributed", source="Orphanet:93324/ntbt"} xref: MESH:C537021 {source="MONDO:equivalentTo"} xref: NCIT:C130992 {source="MONDO:equivalentTo"} -xref: OMIM:244460 {source="ORDO:93324/e", source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367"} +xref: OMIM:244460 {source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367", source="Orphanet:93324/e"} xref: Orphanet:2333 {source="MONDO:subClassOf", source="OMIM:244460"} xref: Orphanet:93324 {source="OMIM:244460", source="MONDO:equivalentTo", source="GARD:0008367"} xref: UMLS:C1855648 {source="OMIM:244460", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367", source="NCIT:C130992"} @@ -179278,9 +179244,9 @@ synonym: "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" EXACT [O synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical, OMIM:244850] synonym: "PPK, Gamborg-Nielsen type" EXACT [Orphanet:86923] synonym: "PPKNR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244850] -xref: ICD10CM:Q82.8 {source="ORDO:86923/attributed", source="ORDO:86923/ntbt", source="Orphanet:86923"} +xref: ICD10CM:Q82.8 {source="Orphanet:86923", source="Orphanet:86923/attributed", source="Orphanet:86923/ntbt"} xref: MESH:C565454 {source="MONDO:equivalentTo"} -xref: OMIM:244850 {source="ORDO:86923/e", source="MONDO:equivalentTo", source="Orphanet:86923"} +xref: OMIM:244850 {source="MONDO:equivalentTo", source="Orphanet:86923", source="Orphanet:86923/e"} xref: Orphanet:86923 {source="MONDO:equivalentTo", source="OMIM:244850"} xref: SCTID:717228004 {source="MONDO:equivalentTo"} xref: UMLS:C1855644 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:244850", source="Orphanet:86923"} @@ -179308,14 +179274,14 @@ synonym: "PLS" EXACT ABBREVIATION [Orphanet:678] synonym: "Pls" RELATED [OMIM:245000] xref: DOID:3389 {source="MONDO:equivalentTo"} xref: GARD:0003100 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:678", source="ORDO:678/attributed", source="ORDO:678/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:678", source="Orphanet:678/attributed", source="Orphanet:678/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D010214 {source="ORDO:678/e", source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo"} +xref: MESH:D010214 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"} xref: NCIT:C84992 {source="DOID:3389", source="MONDO:equivalentTo"} -xref: OMIM:245000 {source="ORDO:678/e", source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo"} +xref: OMIM:245000 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"} xref: Orphanet:678 {source="OMIM:245000", source="MONDO:equivalentTo"} xref: SCTID:40158001 {source="DOID:3389", source="MONDO:equivalentTo"} -xref: UMLS:C0030360 {source="ORDO:678/e", source="Orphanet:678", source="DOID:3389", source="NCBI:mim2gene_medline", source="OMIM:245000", source="MONDO:equivalentTo", source="NCIT:C84992"} +xref: UMLS:C0030360 {source="Orphanet:678", source="DOID:3389", source="NCBI:mim2gene_medline", source="OMIM:245000", source="MONDO:equivalentTo", source="Orphanet:678/e", source="NCIT:C84992"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84992", source="indirect"} ! syndromic disease is_a: MONDO:0002635 {source="DOID:3389"} ! periodontal disorder is_a: MONDO:0015978 {source="Orphanet:678"} ! functional neutrophil defect @@ -179341,12 +179307,12 @@ synonym: "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" EXA synonym: "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] xref: GARD:0000044 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:2342", source="ORDO:2342/attributed", source="ORDO:2342/ntbt"} -xref: MESH:C537627 {source="Orphanet:2342", source="ORDO:2342/e", source="MONDO:equivalentTo"} -xref: OMIM:245010 {source="Orphanet:2342", source="ORDO:2342/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:2342", source="Orphanet:2342/attributed", source="Orphanet:2342/ntbt"} +xref: MESH:C537627 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"} +xref: OMIM:245010 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"} xref: Orphanet:2342 {source="OMIM:245010", source="MONDO:equivalentTo"} xref: SCTID:719973009 {source="MONDO:equivalentTo"} -xref: UMLS:C1855627 {source="Orphanet:2342", source="ORDO:2342/e", source="OMIM:245010", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1855627 {source="Orphanet:2342", source="OMIM:245010", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2342/e"} is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0017739 {source="Orphanet:2342"} ! disorder of lysosomal-related organelles is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2342", source="Orphanet:2342/inferred"} ! disorder of development or morphogenesis @@ -179375,10 +179341,10 @@ synonym: "succinyl-CoA:3-oxoacid CoA transferase deficiency" EXACT [Orphanet:832 synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical, OMIM:245050] synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [OMIM:245050] xref: GARD:0004774 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.3 {source="Orphanet:832", source="ORDO:832/attributed", source="ORDO:832/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:832", source="Orphanet:832/attributed", source="Orphanet:832/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537527 {source="MONDO:equivalentTo"} -xref: OMIM:245050 {source="ORDO:832/e", source="Orphanet:832", source="MONDO:equivalentTo"} +xref: OMIM:245050 {source="Orphanet:832", source="MONDO:equivalentTo", source="Orphanet:832/e"} xref: Orphanet:832 {source="MONDO:equivalentTo", source="OMIM:245050"} xref: SCTID:238004006 {source="MONDO:equivalentTo"} xref: UMLS:C0342792 {source="Orphanet:832", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:245050"} @@ -179403,12 +179369,12 @@ synonym: "RICHARDS-RUNDLE syndrome" RELATED [OMIM:245100] synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100] synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245100] xref: GARD:0008423 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.2 {source="Orphanet:1399", source="ORDO:1399/attributed", source="ORDO:1399/ntbt"} -xref: MESH:C535674 {source="ORDO:1399/e", source="Orphanet:1399", source="MONDO:equivalentTo"} -xref: OMIM:245100 {source="ORDO:1399/e", source="Orphanet:1399", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.2 {source="Orphanet:1399/attributed", source="Orphanet:1399/ntbt", source="Orphanet:1399"} +xref: MESH:C535674 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} +xref: OMIM:245100 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} xref: Orphanet:1399 {source="OMIM:245100", source="MONDO:equivalentTo"} xref: SCTID:715415005 {source="MONDO:equivalentTo"} -xref: UMLS:C0796136 {source="ORDO:1399/e", source="OMIM:245100", source="NCBI:mim2gene_medline", source="Orphanet:1399", source="MONDO:equivalentTo"} +xref: UMLS:C0796136 {source="OMIM:245100", source="NCBI:mim2gene_medline", source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} is_a: MONDO:0019589 {source="Orphanet:1399"} ! syndromic genetic hearing loss is_a: MONDO:0100309 {source="Orphanet:1399"} ! hereditary ataxia property_value: confidence "8.6" xsd:double @@ -179435,12 +179401,12 @@ synonym: "pulmonic stenosis brachytelephalangism and calcification of cartilages synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [OMIM:245150] synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202] xref: GARD:0008449 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85202", source="ORDO:85202/attributed", source="ORDO:85202/ntbt"} -xref: MESH:C536167 {source="ORDO:85202/e", source="Orphanet:85202", source="MONDO:equivalentTo"} -xref: OMIM:245150 {source="ORDO:85202/e", source="Orphanet:85202", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:85202", source="Orphanet:85202/attributed", source="Orphanet:85202/ntbt"} +xref: MESH:C536167 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} +xref: OMIM:245150 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} xref: Orphanet:85202 {source="OMIM:245150", source="MONDO:equivalentTo"} xref: SCTID:724208006 {source="MONDO:equivalentTo"} -xref: UMLS:C1855607 {source="OMIM:245150", source="ORDO:85202/e", source="Orphanet:85202", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1855607 {source="OMIM:245150", source="Orphanet:85202", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85202/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85202", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:85202"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018454 ! dysostosis of genetic origin @@ -179487,11 +179453,11 @@ synonym: "arthrosis, flat face, hypotonia, short neck and macrocephaly" RELATED synonym: "Kniest like dysplasia lethal" RELATED [GARD:0003124] synonym: "Kniest-like dysplasia, lethal" RELATED [OMIM:245190] xref: GARD:0003124 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:2347/attributed", source="ORDO:2347/ntbt", source="Orphanet:2347"} -xref: MESH:C537208 {source="ORDO:2347/e", source="MONDO:equivalentTo", source="Orphanet:2347"} -xref: OMIM:245190 {source="ORDO:2347/e", source="MONDO:equivalentTo", source="Orphanet:2347"} +xref: ICD10CM:Q77.8 {source="Orphanet:2347", source="Orphanet:2347/attributed", source="Orphanet:2347/ntbt"} +xref: MESH:C537208 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"} +xref: OMIM:245190 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"} xref: Orphanet:2347 {source="MONDO:equivalentTo", source="OMIM:245190"} -xref: UMLS:C1855605 {source="ORDO:2347/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2347", source="OMIM:245190"} +xref: UMLS:C1855605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2347", source="OMIM:245190", source="Orphanet:2347/e"} is_a: MONDO:0019718 {source="Orphanet:2347"} ! lethal chondrodysplasia property_value: confidence "7.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal xsd:anyURI {source="GARD:0003124"} @@ -179518,18 +179484,18 @@ synonym: "Krabbe's disease" EXACT [DOID:10587] synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587] xref: DOID:10587 {source="MONDO:equivalentTo"} xref: GARD:0006844 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="ORDO:487/inclusion", source="ORDO:487/ntbt", source="Orphanet:487"} +xref: ICD10CM:E75.2 {source="Orphanet:487/ntbt", source="Orphanet:487/inclusion", source="Orphanet:487"} xref: ICD10CM:E75.23 {source="DOID:10587", source="MONDO:equivalentTo"} -xref: MedDRA:10023492 {source="ORDO:487/e", source="Orphanet:487"} +xref: MedDRA:10023492 {source="Orphanet:487/e", source="Orphanet:487"} xref: MESH:D007965 {source="DOID:10587", source="MONDO:equivalentTo"} xref: NCIT:C61254 {source="DOID:10587", source="MONDO:equivalentTo"} -xref: OMIM:245200 {source="DOID:10587", source="MONDO:equivalentTo", source="ORDO:487/e", source="Orphanet:487"} -xref: OMIM:611722 {source="MONDO:superClassOf", source="ORDO:487/btnt", source="Orphanet:487"} +xref: OMIM:245200 {source="DOID:10587", source="Orphanet:487/e", source="MONDO:equivalentTo", source="Orphanet:487"} +xref: OMIM:611722 {source="MONDO:superClassOf", source="Orphanet:487/btnt", source="Orphanet:487"} xref: Orphanet:487 {source="MONDO:equivalentTo", source="OMIM:245200"} xref: SCTID:189979005 {source="DOID:10587", source="MONDO:equivalentTo"} xref: SCTID:192782005 {source="DOID:10587"} xref: SCTID:5710006 {source="DOID:10587"} -xref: UMLS:C0023521 {source="DOID:10587", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245200", source="NCIT:C61254", source="ORDO:487/e", source="Orphanet:487"} +xref: UMLS:C0023521 {source="DOID:10587", source="Orphanet:487/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245200", source="NCIT:C61254", source="Orphanet:487"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder is_a: MONDO:0019046 {source="NCIT:C61254", source="Orphanet:487", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019058 {source="Orphanet:487"} ! neurometabolic disease @@ -179547,7 +179513,7 @@ synonym: "kuru, susceptibility to" EXACT [OMIM:245300] synonym: "susceptibility to kuru" RELATED [OMIM:245300] xref: OMIM:245300 {source="MONDO:equivalentTo"} xref: UMLS:C1855588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245300"} -is_a: MONDO:0006825 {source="ORDO:454745/btnt"} ! kuru +is_a: MONDO:0006825 {source="Orphanet:454745/btnt"} ! kuru relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9449 {source="mim2gene_medgen"} ! PRNP property_value: confidence "2.0724637681159432" xsd:double @@ -179558,9 +179524,9 @@ def: "Metabolic myopathy due to lactate transporter defect is a rare metabolic m subset: ordo_disease {source="Orphanet:171690"} synonym: "erythrocyte lactate transporter defect" EXACT [OMIM:245340, Orphanet:171690] synonym: "lactate transporter defect, myopathy due to" RELATED [OMIM:245340] -xref: ICD10CM:G72.8 {source="Orphanet:171690", source="ORDO:171690/attributed", source="ORDO:171690/ntbt"} +xref: ICD10CM:G72.8 {source="Orphanet:171690/attributed", source="Orphanet:171690/ntbt", source="Orphanet:171690"} xref: MESH:C565449 {source="MONDO:equivalentTo"} -xref: OMIM:245340 {source="ORDO:171690/e", source="Orphanet:171690", source="MONDO:equivalentTo"} +xref: OMIM:245340 {source="Orphanet:171690", source="MONDO:equivalentTo", source="Orphanet:171690/e"} xref: Orphanet:171690 {source="OMIM:245340", source="MONDO:equivalentTo"} xref: SCTID:766715000 {source="MONDO:equivalentTo"} xref: UMLS:C1855577 {source="OMIM:245340", source="NCBI:mim2gene_medline", source="Orphanet:171690", source="MONDO:equivalentTo"} @@ -179579,9 +179545,9 @@ synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruv synonym: "PDHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245348] synonym: "pyruvate dehydrogenase complex component E2 deficiency" EXACT [Orphanet:79244] synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348] -xref: ICD10CM:E74.4 {source="ORDO:79244/attributed", source="ORDO:79244/ntbt", source="Orphanet:79244"} +xref: ICD10CM:E74.4 {source="Orphanet:79244/attributed", source="Orphanet:79244/ntbt", source="Orphanet:79244"} xref: MESH:C565448 {source="MONDO:equivalentTo"} -xref: OMIM:245348 {source="MONDO:equivalentTo", source="ORDO:79244/e", source="Orphanet:79244"} +xref: OMIM:245348 {source="Orphanet:79244/e", source="MONDO:equivalentTo", source="Orphanet:79244"} xref: Orphanet:765 {source="MONDO:subClassOf", source="OMIM:245348"} xref: Orphanet:79244 {source="MONDO:equivalentTo", source="OMIM:245348"} xref: UMLS:C1855565 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245348", source="Orphanet:79244"} @@ -179607,8 +179573,8 @@ synonym: "pyruvate dehydrogenase complex component E3 deficiency" EXACT [Orphane synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency" RELATED [OMIM:245349] synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:245349] synonym: "pyruvate dehydrogenase protein X component deficiency" EXACT [Orphanet:255182] -xref: ICD10CM:E74.4 {source="ORDO:255182/attributed", source="ORDO:255182/ntbt", source="Orphanet:255182"} -xref: OMIM:245349 {source="MONDO:equivalentTo", source="Orphanet:255182", source="ORDO:255182/e"} +xref: ICD10CM:E74.4 {source="Orphanet:255182", source="Orphanet:255182/attributed", source="Orphanet:255182/ntbt"} +xref: OMIM:245349 {source="Orphanet:255182/e", source="MONDO:equivalentTo", source="Orphanet:255182"} xref: Orphanet:255182 {source="MONDO:equivalentTo", source="OMIM:245349"} xref: Orphanet:765 {source="MONDO:subClassOf", source="OMIM:245349"} xref: UMLS:C1855553 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:255182", source="OMIM:245349"} @@ -179636,10 +179602,10 @@ synonym: "succinate-CoA ligase deficiency" BROAD [https://orcid.org/0000-0001-63 synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080128 {source="MONDO:equivalentTo"} xref: GARD:0003163 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:17/attributed", source="ORDO:17/ntbt", source="Orphanet:17"} +xref: ICD10CM:E71.1 {source="Orphanet:17", source="Orphanet:17/attributed", source="Orphanet:17/ntbt"} xref: MESH:C538134 {source="MONDO:equivalentTo"} xref: MESH:C566885 {source="MONDO:equivalentTo"} -xref: OMIM:245400 {source="MONDO:equivalentTo", source="ORDO:17/e", source="Orphanet:17", source="DOID:0080128", source="GARD:0003163"} +xref: OMIM:245400 {source="MONDO:equivalentTo", source="Orphanet:17", source="DOID:0080128", source="GARD:0003163", source="Orphanet:17/e"} xref: Orphanet:17 {source="MONDO:equivalentTo", source="OMIM:245400"} xref: SCTID:715338007 {source="MONDO:equivalentTo"} xref: UMLS:C2931744 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0003163"} @@ -179675,9 +179641,9 @@ synonym: "recurrent infection due to specific granule deficiency" EXACT [Orphane synonym: "SGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245480] synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIM:245480] xref: GARD:0010778 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D71 {source="Orphanet:169142", source="ORDO:169142/attributed", source="ORDO:169142/ntbt"} +xref: ICD10CM:D71 {source="Orphanet:169142/attributed", source="Orphanet:169142/ntbt", source="Orphanet:169142"} xref: MESH:C562873 {source="MONDO:equivalentTo"} -xref: OMIM:245480 {source="MONDO:superClassOf", source="Orphanet:169142", source="ORDO:169142/e"} +xref: OMIM:245480 {source="Orphanet:169142/e", source="MONDO:superClassOf", source="Orphanet:169142"} xref: OMIM:617475 {source="MONDO:superClassOf", source="Orphanet:169142"} xref: OMIMPS:245480 {source="MONDO:equivalentTo"} xref: Orphanet:169142 {source="OMIM:245480", source="MONDO:equivalentTo"} @@ -179699,12 +179665,12 @@ synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" R synonym: "branchial dysplasia-intellectual disability-inguinal hernia syndrome" EXACT [Orphanet:1296] synonym: "Lambert syndrome" EXACT [OMIM:245550] xref: GARD:0003169 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1296", source="ORDO:1296/attributed", source="ORDO:1296/ntbt"} -xref: MESH:C538396 {source="Orphanet:1296", source="MONDO:equivalentTo", source="ORDO:1296/e"} -xref: OMIM:245550 {source="Orphanet:1296", source="MONDO:equivalentTo", source="ORDO:1296/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1296", source="Orphanet:1296/attributed", source="Orphanet:1296/ntbt"} +xref: MESH:C538396 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"} +xref: OMIM:245550 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"} xref: Orphanet:1296 {source="OMIM:245550", source="MONDO:equivalentTo"} xref: SCTID:732961003 {source="MONDO:equivalentTo"} -xref: UMLS:C1855551 {source="Orphanet:1296", source="NCBI:mim2gene_medline", source="OMIM:245550", source="MONDO:equivalentTo", source="ORDO:1296/e"} +xref: UMLS:C1855551 {source="Orphanet:1296", source="NCBI:mim2gene_medline", source="OMIM:245550", source="MONDO:equivalentTo", source="Orphanet:1296/e"} is_a: MONDO:0015159 {source="Orphanet:1296"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015334 {source="Orphanet:1296"} ! branchial arch or oral-acral syndrome property_value: confidence "8.375" xsd:double @@ -179745,18 +179711,18 @@ xref: DOID:2538 {source="EFO:1001010", source="MONDO:equivalentTo"} xref: EFO:1001010 {source="MONDO:equivalentTo"} xref: GARD:0006855 {source="MONDO:equivalentTo"} xref: ICD10CM:G40.8 {source="DOID:2538"} -xref: MedDRA:10052075 {source="ORDO:98818/e", source="Orphanet:98818"} +xref: MedDRA:10052075 {source="Orphanet:98818/e", source="Orphanet:98818"} xref: MedDRA:10052083 {source="EFO:1001010"} -xref: MESH:D018887 {source="EFO:1001010", source="MONDO:equivalentTo", source="ORDO:98818/e", source="DOID:2538", source="Orphanet:98818"} +xref: MESH:D018887 {source="EFO:1001010", source="Orphanet:98818/e", source="MONDO:equivalentTo", source="DOID:2538", source="Orphanet:98818"} xref: NCIT:C84806 {source="EFO:1001010", source="MONDO:equivalentTo", source="DOID:2538"} -xref: OMIM:245570 {source="ORDO:98818/ntbt", source="MONDO:equivalentTo", source="DOID:2538", source="Orphanet:98818"} +xref: OMIM:245570 {source="MONDO:equivalentTo", source="Orphanet:98818/ntbt", source="DOID:2538", source="Orphanet:98818"} xref: Orphanet:163721 {source="OMIM:245570", source="MONDO:superClassOf"} xref: Orphanet:1945 {source="OMIM:245570", source="MONDO:superClassOf"} xref: Orphanet:725 {source="OMIM:245570", source="MONDO:superClassOf"} xref: Orphanet:98818 {source="OMIM:245570", source="MONDO:equivalentTo"} xref: SCTID:192567003 {source="DOID:2538"} xref: SCTID:230438007 {source="MONDO:equivalentTo", source="DOID:2538"} -xref: UMLS:C0282512 {source="OMIM:245570", source="MONDO:equivalentTo", source="ORDO:98818/e", source="NCIT:C84806", source="DOID:2538", source="Orphanet:98818"} +xref: UMLS:C0282512 {source="OMIM:245570", source="Orphanet:98818/e", source="MONDO:equivalentTo", source="NCIT:C84806", source="DOID:2538", source="Orphanet:98818"} xref: UMLS:C1832814 {source="OMIM:245570", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3806402 {source="OMIM:245570", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3806403 {source="OMIM:245570", source="MONDO:superClassOf"} @@ -179789,9 +179755,9 @@ synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" EXACT [OMIM:245600, OMIM:genemap2] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139] xref: DOID:0080575 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="ORDO:284139/attributed", source="ORDO:284139/ntbt", source="Orphanet:284139"} +xref: ICD10CM:Q74.8 {source="Orphanet:284139", source="Orphanet:284139/attributed", source="Orphanet:284139/ntbt"} xref: MESH:C537874 {source="MONDO:equivalentTo"} -xref: OMIM:245600 {source="MONDO:equivalentTo", source="Orphanet:284139", source="ORDO:284139/e"} +xref: OMIM:245600 {source="Orphanet:284139/e", source="MONDO:equivalentTo", source="Orphanet:284139"} xref: Orphanet:284139 {source="MONDO:equivalentTo", source="OMIM:245600"} xref: UMLS:C1855536 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3278404 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:245600"} @@ -179814,12 +179780,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2371"} synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181] synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650] xref: GARD:0003181 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q74.8 {source="Orphanet:2371", source="ORDO:2371/attributed", source="ORDO:2371/ntbt"} -xref: MESH:C537872 {source="MONDO:equivalentTo", source="Orphanet:2371", source="ORDO:2371/e"} -xref: OMIM:245650 {source="MONDO:equivalentTo", source="Orphanet:2371", source="ORDO:2371/e"} +xref: ICD10CM:Q74.8 {source="Orphanet:2371/attributed", source="Orphanet:2371/ntbt", source="Orphanet:2371"} +xref: MESH:C537872 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} +xref: OMIM:245650 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: Orphanet:2371 {source="OMIM:245650", source="MONDO:equivalentTo"} xref: SCTID:719409004 {source="MONDO:equivalentTo"} -xref: UMLS:C1855535 {source="OMIM:245650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2371", source="ORDO:2371/e"} +xref: UMLS:C1855535 {source="Orphanet:2371/e", source="OMIM:245650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: UMLS:C4304741 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:2371"} ! obsolete primary bone dysplasia with multiple joint dislocations @@ -179838,9 +179804,9 @@ synonym: "LOCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245660] synonym: "logic syndrome" EXACT [OMIM:245660, Orphanet:2407] synonym: "Shabbir syndrome" EXACT [Orphanet:2407] xref: GARD:0000368 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q81.8 {source="ORDO:2407/attributed", source="ORDO:2407/ntbt", source="Orphanet:2407"} +xref: ICD10CM:Q81.8 {source="Orphanet:2407", source="Orphanet:2407/attributed", source="Orphanet:2407/ntbt"} xref: MESH:C537032 {source="MONDO:equivalentTo"} -xref: OMIM:245660 {source="MONDO:equivalentTo", source="Orphanet:2407", source="ORDO:2407/e"} +xref: OMIM:245660 {source="Orphanet:2407/e", source="MONDO:equivalentTo", source="Orphanet:2407"} xref: Orphanet:2407 {source="OMIM:245660", source="MONDO:equivalentTo"} xref: SCTID:722675000 {source="MONDO:equivalentTo"} xref: UMLS:C1328355 {source="NCBI:mim2gene_medline", source="OMIM:245660", source="MONDO:equivalentTo", source="Orphanet:2407"} @@ -179867,17 +179833,17 @@ synonym: "LMS" EXACT ABBREVIATION [Orphanet:2377] synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245800] xref: DOID:1930 {source="MONDO:equivalentTo"} xref: GARD:0012635 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2377", source="ORDO:2377/inclusion", source="ORDO:2377/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2377/inclusion", source="Orphanet:2377", source="Orphanet:2377/ntbt"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056710 {source="Orphanet:2377", source="ORDO:2377/e"} -xref: MESH:D007849 {source="Orphanet:2377", source="ORDO:2377/e", source="MONDO:equivalentTo", source="DOID:1930"} +xref: MedDRA:10056710 {source="Orphanet:2377", source="Orphanet:2377/e"} +xref: MESH:D007849 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"} xref: NCIT:C34760 {source="MONDO:equivalentTo", source="DOID:1930"} -xref: OMIM:245800 {source="Orphanet:2377", source="ORDO:2377/e", source="MONDO:equivalentTo", source="DOID:1930"} +xref: OMIM:245800 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"} xref: Orphanet:2377 {source="MONDO:equivalentTo", source="OMIM:245800"} xref: SCTID:232059000 {source="MONDO:equivalentTo", source="DOID:1930"} xref: SCTID:232060005 {source="DOID:1930"} xref: SCTID:5619004 {source="DOID:1930", source="MONDO:directSiblingOf"} -xref: UMLS:C0023138 {source="Orphanet:2377", source="ORDO:2377/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34760", source="DOID:1930", source="OMIM:245800"} +xref: UMLS:C0023138 {source="Orphanet:2377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34760", source="Orphanet:2377/e", source="DOID:1930", source="OMIM:245800"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2377", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34760", source="indirect"} ! syndromic disease is_a: MONDO:0003847 {source="DOID:1930/inferred", source="MONDO:Redundant", source="NCIT:C34760", source="Orphanet:2377/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease @@ -179905,10 +179871,10 @@ synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [DOID:1391, OMI synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293] xref: DOID:1391 {source="MONDO:equivalentTo"} xref: GARD:0004011 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E78.6 {source="Orphanet:79293", source="ORDO:79293/attributed", source="ORDO:79293/ntbt", source="DOID:1391"} +xref: ICD10CM:E78.6 {source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/attributed", source="Orphanet:79293/ntbt"} xref: MESH:D007863 {source="DOID:1391"} xref: NCIT:C84813 {source="MONDO:equivalentTo", source="DOID:1391"} -xref: OMIM:245900 {source="ORDO:79293/e", source="MONDO:equivalentTo", source="Orphanet:79293", source="DOID:1391"} +xref: OMIM:245900 {source="MONDO:equivalentTo", source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/e"} xref: Orphanet:650 {source="MONDO:subClassOf", source="OMIM:245900"} xref: Orphanet:79293 {source="MONDO:equivalentTo", source="OMIM:245900"} xref: SCTID:238091006 {source="MONDO:equivalentTo", source="DOID:1391"} @@ -179930,7 +179896,7 @@ def: "Absence deformity of leg B cataract is a very rare syndromic limb malforma subset: ordo_malformation_syndrome {source="Orphanet:2310"} synonym: "leg, absence deformity of, with congenital cataract" RELATED [OMIM:246000] xref: MESH:C565442 {source="MONDO:equivalentTo"} -xref: OMIM:246000 {source="ORDO:2310/e", source="Orphanet:2310", source="MONDO:equivalentTo"} +xref: OMIM:246000 {source="Orphanet:2310", source="MONDO:equivalentTo", source="Orphanet:2310/e"} xref: Orphanet:2310 {source="OMIM:246000", source="MONDO:equivalentTo"} xref: UMLS:C1855523 {source="OMIM:246000", source="Orphanet:2310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018234 ! dysostosis @@ -179949,15 +179915,15 @@ synonym: "insulin receptor, defect 1N" RELATED [OMIM:246200] synonym: "leprechaunism" EXACT [DOID:0050470, OMIM:246200] xref: DOID:0050470 {source="MONDO:equivalentTo"} xref: GARD:0006885 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E34.8 {source="ORDO:508/index", source="ORDO:508/ntbt", source="Orphanet:508"} +xref: ICD10CM:E34.8 {source="Orphanet:508", source="Orphanet:508/index", source="Orphanet:508/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D056731 {source="MONDO:equivalentTo", source="DOID:0050470"} xref: NCIT:C84676 {source="MONDO:equivalentTo", source="DOID:0050470"} -xref: OMIM:246200 {source="MONDO:equivalentTo", source="ORDO:508/e", source="Orphanet:508", source="DOID:0050470"} +xref: OMIM:246200 {source="MONDO:equivalentTo", source="Orphanet:508", source="DOID:0050470", source="Orphanet:508/e"} xref: Orphanet:508 {source="OMIM:246200", source="MONDO:equivalentTo"} xref: SCTID:111307005 {source="MONDO:equivalentTo", source="DOID:0050470"} xref: SCTID:33559001 {source="DOID:0050470", source="MONDO:directSiblingOf"} -xref: UMLS:C0265344 {source="OMIM:246200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:508/e", source="Orphanet:508", source="DOID:0050470", source="NCIT:C84676"} +xref: UMLS:C0265344 {source="OMIM:246200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:508", source="DOID:0050470", source="NCIT:C84676", source="Orphanet:508/e"} xref: UMLS:C0271689 {source="OMIM:246200", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0271695 {source="DOID:0050470", source="MONDO:directSiblingOf"} is_a: MONDO:0002254 {source="NCIT:C84676"} ! syndromic disease @@ -180006,14 +179972,14 @@ synonym: "histiocytosis X, acute disseminated" RELATED [OMIM:246400] synonym: "L-S disease" RELATED [OMIM:246400] synonym: "letterer-Siwe disease" EXACT [NCIT:C3160, OMIM:246400] synonym: "multifocal multisystem Langerhans cell histiocytosis" EXACT [NCIT:C3160] -xref: ICD10CM:C96.0 {source="ORDO:99870/e", source="Orphanet:99870"} +xref: ICD10CM:C96.0 {source="Orphanet:99870/e", source="Orphanet:99870"} xref: ICDO:9754/3 {source="NCIT:C3160"} -xref: MedDRA:10024265 {source="ORDO:99870/e", source="Orphanet:99870"} -xref: MESH:C538636 {source="ORDO:99870/e", source="Orphanet:99870"} +xref: MedDRA:10024265 {source="Orphanet:99870/e", source="Orphanet:99870"} +xref: MESH:C538636 {source="Orphanet:99870/e", source="Orphanet:99870"} xref: NCIT:C3160 {source="MONDO:equivalentTo"} -xref: OMIM:246400 {source="MONDO:equivalentTo", source="ORDO:99870/e", source="Orphanet:99870"} +xref: OMIM:246400 {source="Orphanet:99870/e", source="MONDO:equivalentTo", source="Orphanet:99870"} xref: Orphanet:99870 {source="MONDO:equivalentTo", source="OMIM:246400"} -xref: UMLS:C0023381 {source="NCIT:C3160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:246400", source="ORDO:99870/e", source="Orphanet:99870"} +xref: UMLS:C0023381 {source="NCIT:C3160", source="Orphanet:99870/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:246400", source="Orphanet:99870"} is_a: MONDO:0017025 {source="Orphanet:99870"} ! Langerhans cell histiocytosis specific to childhood is_a: MONDO:0018310 {source="MONDO:0009519/inferred", source="MONDO:Redundant", source="NCIT:C3160", source="NCIT:C3160/inferred", source="Orphanet:99870", source="indirect"} ! Langerhans cell histiocytosis property_value: confidence "0.43999999999999995" xsd:double @@ -180037,15 +180003,15 @@ synonym: "HMGCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246450] synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20] synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523] xref: GARD:0008387 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="Orphanet:20", source="ORDO:20/attributed", source="ORDO:20/ntbt"} +xref: ICD10CM:E71.1 {source="Orphanet:20", source="Orphanet:20/attributed", source="Orphanet:20/ntbt"} xref: MESH:C538324 {source="MONDO:equivalentTo"} xref: NCIT:C84523 {source="MONDO:equivalentTo"} -xref: OMIM:246450 {source="Orphanet:20", source="MONDO:equivalentTo", source="ORDO:20/e"} +xref: OMIM:246450 {source="Orphanet:20", source="MONDO:equivalentTo", source="Orphanet:20/e"} xref: Orphanet:20 {source="OMIM:246450", source="MONDO:equivalentTo"} xref: SCTID:410059004 {source="MONDO:equivalentTo"} xref: UMLS:C0268601 {source="Orphanet:20", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C1415614 {source="OMIM:246450", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1533587 {source="Orphanet:20", source="MONDO:equivalentTo", source="ORDO:20/e"} +xref: UMLS:C1533587 {source="Orphanet:20", source="MONDO:equivalentTo", source="Orphanet:20/e"} is_a: MONDO:0017713 {source="Orphanet:20"} ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0019215 {source="Orphanet:20"} ! classic organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5005 {source="mim2gene_medgen"} ! HMGCL @@ -180069,9 +180035,9 @@ synonym: "Berlin syndrome" EXACT [Orphanet:1816] synonym: "ectodermal dysplasia, Berlin type" EXACT [Orphanet:1816] synonym: "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis" RELATED [OMIM:246500] synonym: "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis" RELATED DEPRECATED [OMIM:246500] -xref: ICD10CM:Q82.4 {source="ORDO:1816/attributed", source="ORDO:1816/ntbt", source="Orphanet:1816"} +xref: ICD10CM:Q82.4 {source="Orphanet:1816/attributed", source="Orphanet:1816/ntbt", source="Orphanet:1816"} xref: MESH:C565440 {source="MONDO:equivalentTo"} -xref: OMIM:246500 {source="MONDO:equivalentTo", source="ORDO:1816/e", source="Orphanet:1816"} +xref: OMIM:246500 {source="Orphanet:1816/e", source="MONDO:equivalentTo", source="Orphanet:1816"} xref: Orphanet:1816 {source="MONDO:equivalentTo", source="OMIM:246500"} xref: SCTID:239032007 {source="MONDO:equivalentTo"} xref: UMLS:C0406729 {source="MONDO:equivalentTo"} @@ -180089,10 +180055,10 @@ synonym: "Lichtenstein syndrome" EXACT [OMIM:246550] synonym: "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" RELATED [GARD:0003248] xref: GARD:0003248 {source="MONDO:equivalentTo"} xref: MESH:C535894 {source="MONDO:equivalentTo"} -xref: OMIM:246550 {source="MONDO:equivalentTo", source="ORDO:2390/e", source="Orphanet:2390"} +xref: OMIM:246550 {source="Orphanet:2390/e", source="MONDO:equivalentTo", source="Orphanet:2390"} xref: Orphanet:2390 {source="OMIM:246550", source="MONDO:equivalentTo"} xref: SCTID:763668009 {source="MONDO:equivalentTo"} -xref: UMLS:C1855502 {source="OMIM:246550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2390/e", source="Orphanet:2390"} +xref: UMLS:C1855502 {source="Orphanet:2390/e", source="OMIM:246550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2390"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome xsd:anyURI {source="GARD:0003248"} @@ -180114,10 +180080,10 @@ synonym: "mental retardation spasticity ectrodactyly" RELATED DEPRECATED [GARD:0 synonym: "mental retardation, spasticity and transverse limb defects" RELATED DEPRECATED [GARD:0003523, MESH:C537446] xref: GARD:0003523 {source="MONDO:equivalentTo"} xref: MESH:C537446 {source="MONDO:equivalentTo"} -xref: OMIM:246555 {source="Orphanet:1891", source="ORDO:1891/e", source="GARD:0003523", source="MONDO:equivalentTo"} +xref: OMIM:246555 {source="Orphanet:1891", source="GARD:0003523", source="MONDO:equivalentTo", source="Orphanet:1891/e"} xref: Orphanet:1891 {source="MONDO:equivalentTo", source="OMIM:246555"} xref: SCTID:763743003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796001 {source="Orphanet:1891", source="ORDO:1891/e", source="GARD:0003523", source="MONDO:equivalentTo"} +xref: UMLS:C0796001 {source="Orphanet:1891", source="GARD:0003523", source="MONDO:equivalentTo", source="Orphanet:1891/e"} xref: UMLS:C1855501 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:246555"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1891", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -180153,7 +180119,7 @@ xref: GARD:0003252 {source="MONDO:equivalentTo"} xref: ICD10CM:Q71.6 {source="DOID:0090025"} xref: MESH:C565437 {source="MONDO:equivalentTo"} xref: NCIT:C75121 {source="MONDO:equivalentTo"} -xref: OMIM:246560 {source="DOID:0090025", source="MONDO:equivalentTo", source="Orphanet:1307", source="ORDO:1307/e", source="GARD:0003252"} +xref: OMIM:246560 {source="Orphanet:1307/e", source="DOID:0090025", source="MONDO:equivalentTo", source="Orphanet:1307", source="GARD:0003252"} xref: Orphanet:1307 {source="OMIM:246560", source="MONDO:equivalentTo", source="GARD:0003252"} xref: Orphanet:2440 {source="MONDO:subClassOf", source="OMIM:246560", source="DOID:0090025"} xref: SCTID:722429003 {source="MONDO:equivalentTo"} @@ -180229,13 +180195,13 @@ synonym: "lipid Transport defect of intestine" RELATED [OMIM:246700] xref: DOID:0060357 {source="MONDO:equivalentTo"} xref: GARD:0009683 {source="MONDO:equivalentTo"} xref: ICD10CM:E78.3 {source="DOID:0060357"} -xref: ICD10CM:E78.6 {source="ORDO:71/attributed", source="ORDO:71/ntbt", source="Orphanet:71"} -xref: MESH:C535460 {source="MONDO:equivalentTo", source="DOID:0060357", source="ORDO:71/e", source="Orphanet:71"} -xref: OMIM:246700 {source="MONDO:equivalentTo", source="DOID:0060357", source="ORDO:71/e", source="Orphanet:71"} +xref: ICD10CM:E78.6 {source="Orphanet:71/attributed", source="Orphanet:71/ntbt", source="Orphanet:71"} +xref: MESH:C535460 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} +xref: OMIM:246700 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} xref: Orphanet:71 {source="MONDO:equivalentTo", source="DOID:0060357", source="OMIM:246700"} xref: SCTID:190792005 {source="DOID:0060357"} xref: SCTID:702364003 {source="MONDO:equivalentTo", source="DOID:0060357"} -xref: UMLS:C0795956 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060357", source="ORDO:71/e", source="OMIM:246700", source="Orphanet:71"} +xref: UMLS:C0795956 {source="Orphanet:71/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060357", source="OMIM:246700", source="Orphanet:71"} is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:71", source="Orphanet:71/inferred"} ! intestinal disorder is_a: MONDO:0015180 {source="Orphanet:71"} ! intestinal disease due to fat malabsorption is_a: MONDO:0017774 {source="MESH:C535460", source="Orphanet:71"} ! hypobetalipoproteinemia @@ -180260,8 +180226,8 @@ synonym: "maple syrup urine disease, type 3" RELATED [OMIM:246900] synonym: "maple syrup urine disease, type III" RELATED [GARD:0003263] synonym: "pyruvate dehydrogenase E3 deficiency" EXACT CLINGEN_PREFERRED [] xref: GARD:0003263 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.4 {source="ORDO:2394/attributed", source="ORDO:2394/ntbt", source="Orphanet:2394"} -xref: OMIM:246900 {source="MONDO:equivalentTo", source="ORDO:2394/e", source="Orphanet:2394"} +xref: ICD10CM:E74.4 {source="Orphanet:2394/attributed", source="Orphanet:2394/ntbt", source="Orphanet:2394"} +xref: OMIM:246900 {source="Orphanet:2394/e", source="MONDO:equivalentTo", source="Orphanet:2394"} xref: Orphanet:2394 {source="MONDO:equivalentTo", source="OMIM:246900"} xref: Orphanet:765 {source="MONDO:subClassOf", source="OMIM:246900"} xref: SCTID:29914000 {source="MONDO:equivalentTo"} @@ -180289,11 +180255,11 @@ synonym: "Urbach Wiethe disease" RELATED [GARD:0003268] synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530] xref: DOID:14498 {source="MONDO:equivalentTo"} xref: GARD:0003268 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E78.8 {source="ORDO:530/ntbt", source="ORDO:530/index", source="Orphanet:530"} +xref: ICD10CM:E78.8 {source="Orphanet:530/index", source="Orphanet:530/ntbt", source="Orphanet:530"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D008065 {source="MONDO:equivalentTo", source="DOID:14498"} xref: NCIT:C84829 {source="MONDO:equivalentTo", source="DOID:14498"} -xref: OMIM:247100 {source="MONDO:equivalentTo", source="DOID:14498", source="ORDO:530/e", source="Orphanet:530"} +xref: OMIM:247100 {source="Orphanet:530/e", source="MONDO:equivalentTo", source="DOID:14498", source="Orphanet:530"} xref: Orphanet:530 {source="OMIM:247100", source="MONDO:equivalentTo"} xref: SCTID:238950006 {source="DOID:14498"} xref: SCTID:38692000 {source="MONDO:equivalentTo", source="DOID:14498"} @@ -180329,15 +180295,15 @@ synonym: "monosomy 17p13.3" EXACT [Orphanet:531] synonym: "telomeric deletion 17p" EXACT [Orphanet:531] xref: DOID:0060469 {source="MONDO:equivalentTo"} xref: GARD:0003669 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.3 {source="ORDO:531/inclusion", source="DOID:0060469", source="ORDO:531/ntbt", source="Orphanet:531"} +xref: ICD10CM:Q04.3 {source="Orphanet:531/ntbt", source="DOID:0060469", source="Orphanet:531/inclusion", source="Orphanet:531"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068361 {source="ORDO:531/e", source="Orphanet:531"} -xref: MESH:D054221 {source="ORDO:531/e", source="Orphanet:531"} +xref: MedDRA:10068361 {source="Orphanet:531/e", source="Orphanet:531"} +xref: MESH:D054221 {source="Orphanet:531/e", source="Orphanet:531"} xref: NCIT:C124852 {source="MONDO:equivalentTo"} -xref: OMIM:247200 {source="MONDO:equivalentTo", source="DOID:0060469", source="ORDO:531/e", source="Orphanet:531"} +xref: OMIM:247200 {source="Orphanet:531/e", source="MONDO:equivalentTo", source="DOID:0060469", source="Orphanet:531"} xref: Orphanet:531 {source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469"} xref: SCTID:253148005 {source="MONDO:equivalentTo"} -xref: UMLS:C0265219 {source="NCBI:mim2gene_medline", source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469", source="NCIT:C124852", source="ORDO:531/e", source="Orphanet:531"} +xref: UMLS:C0265219 {source="Orphanet:531/e", source="NCBI:mim2gene_medline", source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469", source="NCIT:C124852", source="Orphanet:531"} xref: UMLS:C1855481 {source="OMIM:247200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="DOID:0060469", source="MONDO:Redundant", source="NCIT:C124852", source="indirect"} ! syndromic disease is_a: MONDO:0005027 {source="MONDO:0015652-obsoleted"} ! epilepsy @@ -180358,12 +180324,12 @@ synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [OMIM:247410] synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237] synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [OMIM:247410, Orphanet:1563] xref: GARD:0000237 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1563/specific", source="Orphanet:1563", source="ORDO:1563/e"} -xref: MESH:C535769 {source="Orphanet:1563", source="ORDO:1563/e", source="MONDO:equivalentTo"} -xref: OMIM:247410 {source="Orphanet:1563", source="ORDO:1563/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:1563", source="Orphanet:1563/e", source="Orphanet:1563/specific"} +xref: MESH:C535769 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} +xref: OMIM:247410 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} xref: Orphanet:1563 {source="OMIM:247410", source="MONDO:equivalentTo"} xref: SCTID:721083007 {source="MONDO:equivalentTo"} -xref: UMLS:C1855477 {source="Orphanet:1563", source="ORDO:1563/e", source="OMIM:247410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1855477 {source="Orphanet:1563", source="OMIM:247410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1563/e"} is_a: MONDO:0015161 {source="Orphanet:1563", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019287 {source="Orphanet:1563", source="linkedlifedata"} ! ectodermal dysplasia syndrome @@ -180417,16 +180383,16 @@ synonym: "lymphocytic interstitial pneumonia" EXACT [Orphanet:79128] synonym: "lymphocytic interstitial pneumonitis" EXACT [NCIT:C27558] synonym: "lymphoid interstitial pneumonia" EXACT [MONDO:Lexical, OMIM:247610] xref: DOID:0050159 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.1 {source="Orphanet:79128", source="ORDO:79128/ntbt"} +xref: ICD10CM:J84.1 {source="Orphanet:79128", source="Orphanet:79128/ntbt"} xref: ICD10CM:J84.2 {source="MONDO:equivalentTo"} xref: ICD9:516.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062997 {source="Orphanet:79128", source="ORDO:79128/e"} +xref: MedDRA:10062997 {source="Orphanet:79128", source="Orphanet:79128/e"} xref: MESH:C562489 {source="MONDO:equivalentTo"} xref: NCIT:C27558 {source="MONDO:equivalentTo"} -xref: OMIM:247610 {source="Orphanet:79128", source="MONDO:equivalentTo", source="ORDO:79128/e"} +xref: OMIM:247610 {source="Orphanet:79128", source="MONDO:equivalentTo", source="Orphanet:79128/e"} xref: Orphanet:79128 {source="MONDO:equivalentTo", source="OMIM:247610"} xref: SCTID:44274007 {source="MONDO:equivalentTo"} -xref: UMLS:C0264511 {source="Orphanet:79128", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:247610", source="NCIT:C27558", source="ORDO:79128/e"} +xref: UMLS:C0264511 {source="Orphanet:79128", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:247610", source="Orphanet:79128/e", source="NCIT:C27558"} is_a: MONDO:0002429 {source="DOID:0050159", source="NCIT:C27558", source="Orphanet:79128", source="Wikipedia:Idiopathic_interstitial_pneumonia", source="linkedlifedata"} ! idiopathic interstitial pneumonia [Term] @@ -180460,7 +180426,7 @@ synonym: "lymphokine deficiency" EXACT [OMIM:247650] xref: MESH:C565428 {source="MONDO:equivalentTo"} xref: OMIM:247650 {source="MONDO:equivalentTo"} xref: UMLS:C1855471 {source="OMIM:247650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015279 {source="ORDO:1334/btnt"} ! chronic mucocutaneous candidiasis +is_a: MONDO:0015279 {source="Orphanet:1334/btnt"} ! chronic mucocutaneous candidiasis property_value: confidence "2.323076923076922" xsd:double [Term] @@ -180492,11 +180458,11 @@ synonym: "Mac Dermot Winter syndrome" RELATED [GARD:0000144] synonym: "MacDermot-Winter syndrome" EXACT [GARD:0000144, OMIM:247990, Orphanet:2083] synonym: "prominent glabella microcephaly hypogenitalism" RELATED [GARD:0000144] xref: GARD:0000144 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2083/attributed", source="ORDO:2083/ntbt", source="Orphanet:2083"} +xref: ICD10CM:Q87.8 {source="Orphanet:2083", source="Orphanet:2083/attributed", source="Orphanet:2083/ntbt"} xref: MESH:C537714 {source="MONDO:equivalentTo"} -xref: OMIM:247990 {source="GARD:0000144", source="MONDO:equivalentTo", source="Orphanet:2083", source="ORDO:2083/e"} +xref: OMIM:247990 {source="Orphanet:2083/e", source="GARD:0000144", source="MONDO:equivalentTo", source="Orphanet:2083"} xref: Orphanet:2083 {source="GARD:0000144", source="OMIM:247990", source="MONDO:equivalentTo"} -xref: UMLS:C0796024 {source="GARD:0000144", source="OMIM:247990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2083", source="ORDO:2083/e"} +xref: UMLS:C0796024 {source="Orphanet:2083/e", source="GARD:0000144", source="OMIM:247990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2083"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2083", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2083"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -180518,7 +180484,7 @@ xref: Orphanet:2477 {source="MONDO:subClassOf", source="OMIM:248000"} xref: UMLS:C2243051 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931497 {source="GARD:0000148", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3806412 {source="OMIM:248000", source="MONDO:equivalentTo"} -is_a: MONDO:0016608 {source="MESH:C537453", source="ORDO:2477/btnt"} ! megalencephaly +is_a: MONDO:0016608 {source="MESH:C537453", source="Orphanet:2477/btnt"} ! megalencephaly property_value: confidence "39.000000000000085" xsd:double [Term] @@ -180557,11 +180523,11 @@ synonym: "macrosomia with microphthalmia, lethal" RELATED [OMIM:248110] synonym: "Teebi Al-Saleh Hassoon syndrome" RELATED [GARD:0000177] synonym: "Teebi-Al Saleh-Hassoon syndrome" EXACT [Orphanet:2432] xref: GARD:0000177 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2432", source="ORDO:2432/attributed", source="ORDO:2432/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2432", source="Orphanet:2432/attributed", source="Orphanet:2432/ntbt"} xref: MESH:C537830 {source="MONDO:equivalentTo"} -xref: OMIM:248110 {source="Orphanet:2432", source="GARD:0000177", source="ORDO:2432/e", source="MONDO:equivalentTo"} +xref: OMIM:248110 {source="Orphanet:2432", source="GARD:0000177", source="MONDO:equivalentTo", source="Orphanet:2432/e"} xref: Orphanet:2432 {source="OMIM:248110", source="GARD:0000177", source="MONDO:equivalentTo"} -xref: UMLS:C1855467 {source="OMIM:248110", source="Orphanet:2432", source="GARD:0000177", source="ORDO:2432/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1855467 {source="OMIM:248110", source="Orphanet:2432", source="GARD:0000177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2432/e"} is_a: MONDO:0015161 {source="Orphanet:2432", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2432"} ! orofacial clefting syndrome is_a: MONDO:0043008 {source="Orphanet:2432"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -180589,12 +180555,12 @@ synonym: "Meier Blumberg Imahorn syndrome" RELATED [GARD:0003451] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [DOID:0060881, Orphanet:2196] xref: DOID:0060881 {source="MONDO:equivalentTo"} xref: GARD:0003451 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.4 {source="DOID:0060881", source="ORDO:2196/attributed", source="ORDO:2196/ntbt", source="Orphanet:2196"} +xref: ICD10CM:E83.4 {source="DOID:0060881", source="Orphanet:2196/attributed", source="Orphanet:2196/ntbt", source="Orphanet:2196"} xref: MESH:C536148 {source="MONDO:equivalentTo"} -xref: OMIM:248190 {source="DOID:0060881", source="MONDO:equivalentTo", source="ORDO:2196/e", source="GARD:0003451", source="Orphanet:2196"} +xref: OMIM:248190 {source="DOID:0060881", source="Orphanet:2196/e", source="MONDO:equivalentTo", source="GARD:0003451", source="Orphanet:2196"} xref: Orphanet:2196 {source="DOID:0060881", source="MONDO:equivalentTo", source="OMIM:248190"} xref: UMLS:C1855466 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:248190", source="Orphanet:2196"} -xref: UMLS:C2931121 {source="DOID:0060881", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2196/e", source="GARD:0003451", source="Orphanet:2196"} +xref: UMLS:C2931121 {source="DOID:0060881", source="Orphanet:2196/e", source="MONDO:notFoundInDiseaseSubset", source="GARD:0003451", source="Orphanet:2196"} is_a: MONDO:0017624 {source="Orphanet:2196"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis is_a: MONDO:0018100 {source="DOID:0060881", source="MONDO:Redundant", source="OMIM:248190", source="Orphanet:2196/inferred"} ! familial primary hypomagnesemia is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy @@ -180619,7 +180585,7 @@ synonym: "Stargardt disease 1" RELATED [MONDO:Lexical, OMIM:248200] synonym: "Stargardt disease type 1" EXACT [MONDORULE:1, OMIM:248200] synonym: "Stgd" RELATED [OMIM:248200] synonym: "STGD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248200] -xref: ICD10CM:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="ORDO:364055/attributed", source="ORDO:364055/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="Orphanet:364055/attributed", source="Orphanet:364055/ntbt"} xref: OMIM:248200 {source="MONDO:equivalentTo"} xref: Orphanet:364055 {source="MONDO:equivalentTo"} xref: Orphanet:827 {source="MONDO:subClassOf", source="OMIM:248200"} @@ -180654,9 +180620,9 @@ synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:desi synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [DOID:0060880] synonym: "renal hypomagnesemia type 3" EXACT [DOID:0060880, MONDORULE:1, Orphanet:31043] xref: DOID:0060880 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.4 {source="DOID:0060880", source="ORDO:31043/attributed", source="ORDO:31043/ntbt", source="Orphanet:31043"} +xref: ICD10CM:E83.4 {source="DOID:0060880", source="Orphanet:31043/attributed", source="Orphanet:31043/ntbt", source="Orphanet:31043"} xref: MESH:C537153 {source="MONDO:equivalentTo"} -xref: OMIM:248250 {source="DOID:0060880", source="MONDO:equivalentTo", source="ORDO:31043/e", source="Orphanet:31043"} +xref: OMIM:248250 {source="DOID:0060880", source="Orphanet:31043/e", source="MONDO:equivalentTo", source="Orphanet:31043"} xref: Orphanet:31043 {source="DOID:0060880", source="MONDO:equivalentTo", source="OMIM:248250"} xref: SCTID:725033008 {source="MONDO:equivalentTo"} xref: UMLS:C0268448 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:248250"} @@ -180693,9 +180659,9 @@ synonym: "Meleda disease" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862, Orphanet:87503] xref: DOID:0060862 {source="MONDO:equivalentTo"} xref: GARD:0000092 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="DOID:0060862", source="Orphanet:87503", source="ORDO:87503/attributed", source="ORDO:87503/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:87503/attributed", source="Orphanet:87503/ntbt", source="DOID:0060862", source="Orphanet:87503"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:248300 {source="ORDO:87503/e", source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="GARD:0000092"} +xref: OMIM:248300 {source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="Orphanet:87503/e", source="GARD:0000092"} xref: Orphanet:87503 {source="DOID:0060862", source="OMIM:248300", source="MONDO:equivalentTo", source="GARD:0000092"} xref: SCTID:239069005 {source="MONDO:equivalentTo"} xref: UMLS:C0025221 {source="Orphanet:87503", source="NCBI:mim2gene_medline", source="OMIM:248300", source="MONDO:equivalentTo", source="GARD:0000092"} @@ -180763,12 +180729,12 @@ synonym: "Malonicaciduria" RELATED [GARD:0003371] synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943] synonym: "MCD deficiency" RELATED [GARD:0003371] xref: GARD:0003371 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:943", source="ORDO:943/attributed", source="ORDO:943/ntbt"} -xref: MESH:C535702 {source="ORDO:943/e", source="Orphanet:943", source="MONDO:equivalentTo"} -xref: OMIM:248360 {source="ORDO:943/e", source="Orphanet:943", source="MONDO:equivalentTo"} +xref: ICD10CM:E72.8 {source="Orphanet:943/attributed", source="Orphanet:943/ntbt", source="Orphanet:943"} +xref: MESH:C535702 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} +xref: OMIM:248360 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} xref: Orphanet:943 {source="MONDO:equivalentTo", source="OMIM:248360"} xref: SCTID:361203007 {source="MONDO:equivalentTo"} -xref: UMLS:C0342793 {source="ORDO:943/e", source="NCBI:mim2gene_medline", source="Orphanet:943", source="MONDO:equivalentTo", source="OMIM:248360"} +xref: UMLS:C0342793 {source="NCBI:mim2gene_medline", source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e", source="OMIM:248360"} is_a: MONDO:0005066 {source="Orphanet:943"} ! metabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7150 {source="mim2gene_medgen"} ! MLYCD property_value: confidence "3.7222222222222223" xsd:double @@ -180787,10 +180753,10 @@ synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy" RELATED [OMIM:2483 synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [MONDO:Lexical, OMIM:248370] synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [OMIM:248370] xref: GARD:0003374 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="Orphanet:90153", source="ORDO:90153/attributed", source="ORDO:90153/ntbt"} -xref: MESH:C535705 {source="ORDO:90153/e", source="Orphanet:90153", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.5 {source="Orphanet:90153/attributed", source="Orphanet:90153/ntbt", source="Orphanet:90153"} +xref: MESH:C535705 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} xref: NCIT:C123417 {source="MONDO:equivalentTo"} -xref: OMIM:248370 {source="ORDO:90153/e", source="Orphanet:90153", source="MONDO:equivalentTo"} +xref: OMIM:248370 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} xref: Orphanet:2457 {source="MONDO:subClassOf", source="OMIM:248370"} xref: Orphanet:90153 {source="MONDO:equivalentTo", source="OMIM:248370"} xref: SCTID:109419009 {source="MONDO:equivalentTo"} @@ -180852,13 +180818,13 @@ synonym: "MOTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248450] synonym: "MOTA syndrome" EXACT [Orphanet:2717] synonym: "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" RELATED [GARD:0003395] xref: GARD:0003395 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2717", source="ORDO:2717/attributed", source="ORDO:2717/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2717/attributed", source="Orphanet:2717/ntbt", source="Orphanet:2717"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536022 {source="MONDO:equivalentTo"} -xref: OMIM:248450 {source="MONDO:equivalentTo", source="Orphanet:2717", source="ORDO:2717/e"} +xref: OMIM:248450 {source="Orphanet:2717/e", source="MONDO:equivalentTo", source="Orphanet:2717"} xref: Orphanet:2717 {source="OMIM:248450", source="MONDO:equivalentTo"} xref: SCTID:703539006 {source="MONDO:equivalentTo"} -xref: UMLS:C1855425 {source="OMIM:248450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2717", source="ORDO:2717/e"} +xref: UMLS:C1855425 {source="OMIM:248450", source="Orphanet:2717/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2717"} is_a: MONDO:0015160 {source="Orphanet:2717", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021147 {source="Orphanet:2717", source="Orphanet:2717/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043007 {source="Orphanet:2717"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -180886,15 +180852,15 @@ synonym: "mannosidosis, alpha-, types I and II" EXACT [OMIM:248500, OMIM:genemap synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248500] xref: DOID:3413 {source="MONDO:equivalentTo"} xref: GARD:0006968 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.1 {source="ORDO:61/inclusion", source="Orphanet:61", source="ORDO:61/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:61/ntbt", source="Orphanet:61/inclusion", source="Orphanet:61"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D008363 {source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61", source="ORDO:61/e"} +xref: MESH:D008363 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"} xref: NCIT:C84548 {source="MONDO:equivalentTo", source="DOID:3413"} -xref: OMIM:248500 {source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61", source="ORDO:61/e"} +xref: OMIM:248500 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"} xref: Orphanet:61 {source="MONDO:equivalentTo", source="OMIM:248500"} xref: SCTID:124466001 {source="DOID:3413"} xref: SCTID:65524005 {source="MONDO:equivalentTo", source="DOID:3413"} -xref: UMLS:C0024748 {source="NCIT:C84548", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3413", source="OMIM:248500", source="Orphanet:61", source="ORDO:61/e"} +xref: UMLS:C0024748 {source="NCIT:C84548", source="Orphanet:61/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3413", source="OMIM:248500", source="Orphanet:61"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019058 {source="Orphanet:61"} ! neurometabolic disease @@ -180925,14 +180891,14 @@ synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical, OMIM:248510] synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248510] xref: DOID:3633 {source="MONDO:equivalentTo"} xref: GARD:0000869 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.1 {source="Orphanet:118", source="ORDO:118/inclusion", source="ORDO:118/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:118/inclusion", source="Orphanet:118/ntbt", source="Orphanet:118"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D044905 {source="ORDO:118/e", source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633"} +xref: MESH:D044905 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"} xref: NCIT:C84596 {source="MONDO:equivalentTo", source="DOID:3633"} -xref: OMIM:248510 {source="ORDO:118/e", source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633"} +xref: OMIM:248510 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"} xref: Orphanet:118 {source="OMIM:248510", source="MONDO:equivalentTo"} xref: SCTID:238047006 {source="MONDO:equivalentTo", source="DOID:3633"} -xref: UMLS:C0342849 {source="ORDO:118/e", source="OMIM:248510", source="NCBI:mim2gene_medline", source="Orphanet:118", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0342849 {source="OMIM:248510", source="NCBI:mim2gene_medline", source="Orphanet:118", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:118/e"} xref: UMLS:C2931893 {source="OMIM:248510", source="Orphanet:118", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C84596"} xref: UMLS:C4048196 {source="MONDO:equivalentTo", source="DOID:3633"} is_a: MONDO:0005381 ! bone disorder @@ -180974,13 +180940,13 @@ synonym: "maple syrup urine disease, type II" EXACT [OMIM:248600, OMIM:genemap2] synonym: "MSUD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:248600, Orphanet:511] xref: DOID:9269 {source="MONDO:equivalentTo"} xref: GARD:0003228 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="ORDO:511/specific", source="DOID:9269", source="ORDO:511/e"} -xref: MedDRA:10026817 {source="Orphanet:511", source="ORDO:511/e"} -xref: MESH:D008375 {source="Orphanet:511", source="MONDO:equivalentTo", source="DOID:9269", source="ORDO:511/e"} +xref: ICD10CM:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269", source="Orphanet:511/specific"} +xref: MedDRA:10026817 {source="Orphanet:511", source="Orphanet:511/e"} +xref: MESH:D008375 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269"} xref: NCIT:C34806 {source="MONDO:equivalentTo", source="DOID:9269"} xref: OMIM:246900 {source="MONDO:superClassOf", source="DOID:9269"} -xref: OMIM:248600 {source="Orphanet:511", source="MONDO:equivalentTo", source="DOID:9269", source="ORDO:511/e"} -xref: OMIM:615135 {source="Orphanet:511", source="MONDO:superClassOf", source="ORDO:511/btnt", source="DOID:9269"} +xref: OMIM:248600 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269"} +xref: OMIM:615135 {source="Orphanet:511", source="Orphanet:511/btnt", source="MONDO:superClassOf", source="DOID:9269"} xref: OMIMPS:248600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:268145 {source="OMIM:248600", source="MONDO:superClassOf"} xref: Orphanet:268162 {source="OMIM:248600", source="MONDO:superClassOf"} @@ -180988,10 +180954,10 @@ xref: Orphanet:268173 {source="OMIM:248600", source="MONDO:superClassOf"} xref: Orphanet:268184 {source="OMIM:248600", source="MONDO:superClassOf"} xref: Orphanet:511 {source="MONDO:equivalentTo", source="OMIM:248600", source="DOID:9269"} xref: SCTID:27718001 {source="MONDO:equivalentTo", source="DOID:9269"} -xref: UMLS:C0024776 {source="Orphanet:511", source="NCIT:C34806", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248600", source="DOID:9269", source="ORDO:511/e"} +xref: UMLS:C0024776 {source="Orphanet:511", source="NCIT:C34806", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248600", source="Orphanet:511/e", source="DOID:9269"} xref: UMLS:C0268568 {source="OMIM:248600", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0268569 {source="OMIM:248600", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0268576 {source="Orphanet:511", source="MONDO:notFoundInDiseaseSubset", source="ORDO:511/e"} +xref: UMLS:C0268576 {source="Orphanet:511", source="Orphanet:511/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0751285 {source="OMIM:248600", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1621920 {source="OMIM:248600", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1855369 {source="OMIM:248600", source="MONDO:notFoundInDiseaseSubset"} @@ -181018,13 +180984,13 @@ synonym: "Marden-Walker syndrome" EXACT [MONDO:Lexical, OMIM:248700] synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248700] synonym: "Mws" RELATED [OMIM:248700] xref: GARD:0006973 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:2461/attributed", source="ORDO:2461/ntbt", source="Orphanet:2461"} +xref: ICD10CM:Q87.0 {source="Orphanet:2461/attributed", source="Orphanet:2461/ntbt", source="Orphanet:2461"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535910 {source="MONDO:equivalentTo", source="Orphanet:2461", source="ORDO:2461/e"} -xref: OMIM:248700 {source="MONDO:equivalentTo", source="Orphanet:2461", source="ORDO:2461/e"} +xref: MESH:C535910 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"} +xref: OMIM:248700 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"} xref: Orphanet:2461 {source="MONDO:equivalentTo", source="OMIM:248700"} xref: SCTID:449824004 {source="MONDO:equivalentTo"} -xref: UMLS:C0796033 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:248700", source="Orphanet:2461", source="ORDO:2461/e"} +xref: UMLS:C0796033 {source="Orphanet:2461/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:248700", source="Orphanet:2461"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2461", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0015159 {source="Orphanet:2461"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -181043,9 +181009,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2172"} synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [OMIM:248760] synonym: "microcephaly glomerulonephritis Marfanoid habitus" RELATED [GARD:0003615] xref: GARD:0003615 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2172/attributed", source="ORDO:2172/ntbt", source="Orphanet:2172"} +xref: ICD10CM:Q87.8 {source="Orphanet:2172/attributed", source="Orphanet:2172/ntbt", source="Orphanet:2172"} xref: MESH:C565411 {source="MONDO:equivalentTo"} -xref: OMIM:248760 {source="MONDO:equivalentTo", source="ORDO:2172/e", source="Orphanet:2172"} +xref: OMIM:248760 {source="Orphanet:2172/e", source="MONDO:equivalentTo", source="Orphanet:2172"} xref: Orphanet:2172 {source="OMIM:248760", source="MONDO:equivalentTo", source="GARD:0003615"} xref: UMLS:C1855348 {source="OMIM:248760", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0003615", source="Orphanet:2172"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2172", source="indirect"} ! syndromic intellectual disability @@ -181064,11 +181030,11 @@ synonym: "MARFANOID intellectual disability syndrome, autosomal" RELATED [OMIM:2 synonym: "Marfanoid mental retardation syndrome autosomal" RELATED DEPRECATED [GARD:0003388] synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED DEPRECATED [OMIM:248770] xref: GARD:0003388 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2463", source="ORDO:2463/attributed", source="ORDO:2463/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2463", source="Orphanet:2463/attributed", source="Orphanet:2463/ntbt"} xref: MESH:C565410 {source="MONDO:equivalentTo"} -xref: OMIM:248770 {source="Orphanet:2463", source="ORDO:2463/e", source="MONDO:equivalentTo"} +xref: OMIM:248770 {source="Orphanet:2463", source="MONDO:equivalentTo", source="Orphanet:2463/e"} xref: Orphanet:2463 {source="OMIM:248770", source="MONDO:equivalentTo"} -xref: UMLS:C0268364 {source="Orphanet:2463", source="ORDO:2463/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268364 {source="Orphanet:2463", source="Orphanet:2463/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1855347 {source="OMIM:248770", source="Orphanet:2463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2463", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2463"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -181092,12 +181058,12 @@ synonym: "MSS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:248800] synonym: "oligophrenic cerebellolenticular degeneration" EXACT [DOID:0080195] xref: DOID:0080195 {source="MONDO:equivalentTo"} xref: GARD:0008341 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:559", source="ORDO:559/attributed", source="ORDO:559/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:559/attributed", source="Orphanet:559/ntbt", source="Orphanet:559"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:248800 {source="DOID:0080195", source="ORDO:559/e", source="Orphanet:559", source="MONDO:equivalentTo"} +xref: OMIM:248800 {source="DOID:0080195", source="Orphanet:559", source="MONDO:equivalentTo", source="Orphanet:559/e"} xref: Orphanet:559 {source="MONDO:equivalentTo", source="OMIM:248800"} xref: SCTID:80734006 {source="MONDO:equivalentTo"} -xref: UMLS:C0024814 {source="ORDO:559/e", source="Orphanet:559", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248800"} +xref: UMLS:C0024814 {source="Orphanet:559", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248800", source="Orphanet:559/e"} is_a: MONDO:0005071 ! nervous system disorder is_a: MONDO:0006025 {source="DOID:0080195", source="indirect"} ! autosomal recessive disease is_a: MONDO:0020046 {source="Orphanet:559"} ! autosomal recessive degenerative and progressive cerebellar ataxia @@ -181119,9 +181085,9 @@ synonym: "mast syndrome" EXACT CLINGEN_PREFERRED [OMIM:248900] synonym: "spastic paraplegia 21, autosomal recessive" RELATED [OMIM:248900] synonym: "SPG21" EXACT ABBREVIATION [DOID:0060245, Orphanet:101001] xref: DOID:0060245 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101001", source="DOID:0060245", source="ORDO:101001/attributed", source="ORDO:101001/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101001", source="DOID:0060245", source="Orphanet:101001/attributed", source="Orphanet:101001/ntbt"} xref: MESH:C565409 {source="MONDO:equivalentTo"} -xref: OMIM:248900 {source="Orphanet:101001", source="ORDO:101001/e", source="DOID:0060245", source="MONDO:equivalentTo"} +xref: OMIM:248900 {source="Orphanet:101001", source="DOID:0060245", source="MONDO:equivalentTo", source="Orphanet:101001/e"} xref: Orphanet:101001 {source="DOID:0060245", source="MONDO:equivalentTo", source="OMIM:248900"} xref: SCTID:764734003 {source="MONDO:equivalentTo"} xref: UMLS:C1855346 {source="Orphanet:101001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:248900"} @@ -181143,9 +181109,9 @@ synonym: "mastocytosis-short stature-hearing loss syndrome" EXACT [Orphanet:2135 synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability" RELATED [GARD:0003409] synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" RELATED DEPRECATED [GARD:0003409] xref: GARD:0003409 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.2 {source="Orphanet:2135", source="MONDO:relatedTo", source="ORDO:2135/attributed", source="ORDO:2135/ntbt"} +xref: ICD10CM:Q82.2 {source="Orphanet:2135", source="MONDO:relatedTo", source="Orphanet:2135/attributed", source="Orphanet:2135/ntbt"} xref: MESH:C536033 {source="MONDO:equivalentTo"} -xref: OMIM:248910 {source="Orphanet:2135", source="ORDO:2135/e", source="MONDO:equivalentTo", source="GARD:0003409"} +xref: OMIM:248910 {source="Orphanet:2135", source="MONDO:equivalentTo", source="Orphanet:2135/e", source="GARD:0003409"} xref: Orphanet:2135 {source="MONDO:equivalentTo", source="OMIM:248910", source="GARD:0003409"} xref: SCTID:722453009 {source="MONDO:equivalentTo"} xref: UMLS:C1855345 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0003409"} @@ -181168,12 +181134,12 @@ synonym: "intellectual disability, peculiar facies, kyphoscoliosis, diastasis re synonym: "McDonough syndrome" EXACT [OMIM:248950] synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED DEPRECATED [GARD:0003424] xref: GARD:0003424 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2471/attributed", source="ORDO:2471/ntbt", source="Orphanet:2471"} -xref: MESH:C538158 {source="MONDO:equivalentTo", source="ORDO:2471/e", source="Orphanet:2471"} -xref: OMIM:248950 {source="MONDO:equivalentTo", source="ORDO:2471/e", source="Orphanet:2471"} +xref: ICD10CM:Q87.8 {source="Orphanet:2471/attributed", source="Orphanet:2471/ntbt", source="Orphanet:2471"} +xref: MESH:C538158 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} +xref: OMIM:248950 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} xref: Orphanet:2471 {source="OMIM:248950", source="MONDO:equivalentTo"} xref: SCTID:715441004 {source="MONDO:equivalentTo"} -xref: UMLS:C0796038 {source="OMIM:248950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2471/e", source="Orphanet:2471"} +xref: UMLS:C0796038 {source="OMIM:248950", source="NCBI:mim2gene_medline", source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2471", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2471"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -181277,13 +181243,13 @@ synonym: "TRMA" EXACT ABBREVIATION [DOID:0090117, MONDO:Lexical, OMIM:249270, Or xref: DOID:0090117 {source="MONDO:equivalentTo"} xref: GARD:0009210 {source="MONDO:equivalentTo"} xref: GARD:9210 {source="DOID:0090117"} -xref: ICD10CM:Q21.0 {source="ORDO:49827/e", source="Orphanet:49827", source="DOID:0090117", source="ORDO:49827/index"} -xref: MESH:C536510 {source="ORDO:49827/e", source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117"} -xref: OMIM:249270 {source="ORDO:49827/e", source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117"} +xref: ICD10CM:Q21.0 {source="Orphanet:49827", source="Orphanet:49827/index", source="DOID:0090117", source="Orphanet:49827/e"} +xref: MESH:C536510 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"} +xref: OMIM:249270 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"} xref: Orphanet:49827 {source="MONDO:equivalentTo", source="OMIM:249270"} xref: Orphanet:498277 {source="DOID:0090117"} xref: SCTID:237617006 {source="MONDO:equivalentTo"} -xref: UMLS:C0342287 {source="ORDO:49827/e", source="NCBI:mim2gene_medline", source="Orphanet:49827", source="MONDO:notFoundInDiseaseSubset", source="DOID:0090117", source="OMIM:249270"} +xref: UMLS:C0342287 {source="NCBI:mim2gene_medline", source="Orphanet:49827", source="MONDO:notFoundInDiseaseSubset", source="DOID:0090117", source="OMIM:249270", source="Orphanet:49827/e"} is_a: MONDO:0000152 {source="DC-OMIM:249270", source="OMIM:249270"} ! thiamine-responsive dysfunction syndrome is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:49827"} ! diabetes mellitus is_a: MONDO:0019589 {source="Orphanet:49827"} ! syndromic genetic hearing loss @@ -181334,12 +181300,12 @@ synonym: "Neuhauser syndrome" RELATED [OMIM:249310] synonym: "NeuhC$user syndrome" EXACT [Orphanet:2479] synonym: "Neuhäuser syndrome" EXACT [Orphanet:2479] xref: GARD:0003448 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2479/attributed", source="ORDO:2479/ntbt", source="Orphanet:2479"} +xref: ICD10CM:Q87.8 {source="Orphanet:2479", source="Orphanet:2479/attributed", source="Orphanet:2479/ntbt"} xref: MESH:C536143 {source="MONDO:equivalentTo"} -xref: OMIM:249310 {source="ORDO:2479/e", source="MONDO:equivalentTo", source="Orphanet:2479"} +xref: OMIM:249310 {source="MONDO:equivalentTo", source="Orphanet:2479", source="Orphanet:2479/e"} xref: Orphanet:2479 {source="OMIM:249310", source="MONDO:equivalentTo"} xref: SCTID:733522005 {source="MONDO:equivalentTo"} -xref: UMLS:C0796086 {source="OMIM:249310", source="ORDO:2479/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2479"} +xref: UMLS:C0796086 {source="OMIM:249310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2479", source="Orphanet:2479/e"} is_a: MONDO:0000508 {source="Orphanet:2479"} ! syndromic intellectual disability is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -181359,15 +181325,15 @@ synonym: "neurocutaneous melanosis syndrome" RELATED [GARD:0007186] synonym: "neurocutaneous melanosis, somatic" EXACT [OMIM:249400, OMIM:genemap2] synonym: "Neuromelanosis" RELATED [OMIM:249400] xref: GARD:0007186 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D22.3 {source="Orphanet:2481", source="ORDO:2481/btnt"} -xref: ICD10CM:D22.4 {source="Orphanet:2481", source="ORDO:2481/btnt"} -xref: ICD10CM:D22.5 {source="Orphanet:2481", source="ORDO:2481/btnt"} -xref: ICD10CM:D22.6 {source="Orphanet:2481", source="ORDO:2481/btnt"} -xref: ICD10CM:D22.7 {source="Orphanet:2481", source="ORDO:2481/btnt"} -xref: MESH:C537387 {source="MONDO:equivalentTo", source="Orphanet:2481", source="ORDO:2481/e"} -xref: OMIM:249400 {source="MONDO:equivalentTo", source="Orphanet:2481", source="ORDO:2481/e"} +xref: ICD10CM:D22.3 {source="Orphanet:2481/btnt", source="Orphanet:2481"} +xref: ICD10CM:D22.4 {source="Orphanet:2481/btnt", source="Orphanet:2481"} +xref: ICD10CM:D22.5 {source="Orphanet:2481/btnt", source="Orphanet:2481"} +xref: ICD10CM:D22.6 {source="Orphanet:2481/btnt", source="Orphanet:2481"} +xref: ICD10CM:D22.7 {source="Orphanet:2481/btnt", source="Orphanet:2481"} +xref: MESH:C537387 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} +xref: OMIM:249400 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"} -xref: UMLS:C0544862 {source="NCBI:mim2gene_medline", source="OMIM:249400", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2481", source="ORDO:2481/e"} +xref: UMLS:C0544862 {source="Orphanet:2481/e", source="NCBI:mim2gene_medline", source="OMIM:249400", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2481"} is_a: MONDO:0005073 {source="Orphanet:2481"} ! melanocytic nevus is_a: MONDO:0016756 {source="Orphanet:2481"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0042983 {source="MESH:C537387", source="MONDO:cjm"} ! neurocutaneous syndrome @@ -181394,13 +181360,13 @@ synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [OMIM synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834] xref: DOID:0111789 {source="MONDO:equivalentTo"} xref: GARD:0005138 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:137834/attributed", source="ORDO:137834/ntbt", source="Orphanet:137834"} +xref: ICD10CM:Q87.8 {source="Orphanet:137834", source="Orphanet:137834/attributed", source="Orphanet:137834/ntbt"} xref: MESH:C537274 {source="MONDO:equivalentTo"} xref: OMIM:211170 {source="MONDO:obsolete"} -xref: OMIM:249420 {source="GARD:0005138", source="ORDO:137834/e", source="MONDO:equivalentTo", source="Orphanet:137834"} +xref: OMIM:249420 {source="GARD:0005138", source="MONDO:equivalentTo", source="Orphanet:137834", source="Orphanet:137834/e"} xref: Orphanet:137834 {source="GARD:0005138", source="OMIM:249420", source="MONDO:equivalentTo"} xref: SCTID:720958002 {source="MONDO:equivalentTo"} -xref: UMLS:C1855305 {source="GARD:0005138", source="OMIM:249420", source="ORDO:137834/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137834"} +xref: UMLS:C1855305 {source="GARD:0005138", source="OMIM:249420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137834", source="Orphanet:137834/e"} is_a: MONDO:0018233 {source="Orphanet:137834"} ! otopalatodigital syndrome spectrum disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29242 {source="mim2gene_medgen"} ! SH3PXD2B property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome xsd:anyURI {source="GARD:0005138"} @@ -181436,9 +181402,9 @@ synonym: "Belgian type mental retardation syndrome" RELATED DEPRECATED [GARD:000 synonym: "intellectual disability syndrome, Belgian type" RELATED [OMIM:249599] synonym: "mental retardation syndrome, Belgian type" RELATED DEPRECATED [OMIM:249599] xref: GARD:0009811 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3044/attributed", source="ORDO:3044/ntbt", source="Orphanet:3044"} +xref: ICD10CM:Q87.8 {source="Orphanet:3044/attributed", source="Orphanet:3044/ntbt", source="Orphanet:3044"} xref: MESH:C537447 {source="MONDO:equivalentTo"} -xref: OMIM:249599 {source="MONDO:equivalentTo", source="Orphanet:3044", source="ORDO:3044/e"} +xref: OMIM:249599 {source="Orphanet:3044/e", source="MONDO:equivalentTo", source="Orphanet:3044"} xref: Orphanet:3044 {source="OMIM:249599", source="MONDO:equivalentTo"} xref: SCTID:722454003 {source="MONDO:equivalentTo"} xref: UMLS:C1855303 {source="OMIM:249599", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3044"} @@ -181462,13 +181428,13 @@ synonym: "mental retardation syndrome, Mietens Weber type" RELATED DEPRECATED [G synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [OMIM:249600] synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600] xref: GARD:0003524 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2557/attributed", source="ORDO:2557/ntbt", source="Orphanet:2557"} +xref: ICD10CM:Q87.8 {source="Orphanet:2557", source="Orphanet:2557/attributed", source="Orphanet:2557/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537444 {source="MONDO:equivalentTo"} -xref: OMIM:249600 {source="MONDO:equivalentTo", source="Orphanet:2557", source="ORDO:2557/e"} +xref: OMIM:249600 {source="MONDO:equivalentTo", source="Orphanet:2557", source="Orphanet:2557/e"} xref: Orphanet:2557 {source="MONDO:equivalentTo", source="OMIM:249600"} xref: SCTID:40291001 {source="MONDO:equivalentTo"} -xref: UMLS:C0265249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2557", source="OMIM:249600", source="ORDO:2557/e"} +xref: UMLS:C0265249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2557", source="OMIM:249600", source="Orphanet:2557/e"} is_a: MONDO:0015160 {source="Orphanet:2557", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020215 {source="Orphanet:2557"} ! syndromic corneal dystrophy is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2557", source="Orphanet:2557/inferred"} ! disorder of development or morphogenesis @@ -181490,11 +181456,11 @@ synonym: "Ohdo syndrome" EXACT [OMIM:249620, Orphanet:2728] synonym: "Ohdo-Madokoro-Sonoda syndrome" EXACT [Orphanet:2728] xref: ICD9:374.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:525.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:249620 {source="MONDO:equivalentTo", source="Orphanet:2728", source="ORDO:2728/e"} +xref: OMIM:249620 {source="Orphanet:2728/e", source="MONDO:equivalentTo", source="Orphanet:2728"} xref: Orphanet:2728 {source="OMIM:249620", source="MONDO:equivalentTo"} xref: SCTID:412787009 {source="MONDO:equivalentTo"} -xref: UMLS:C0796094 {source="NCBI:mim2gene_medline", source="OMIM:249620", source="MONDO:equivalentTo", source="Orphanet:2728", source="ORDO:2728/e"} -xref: UMLS:C2931643 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2728", source="ORDO:2728/e"} +xref: UMLS:C0796094 {source="Orphanet:2728/e", source="NCBI:mim2gene_medline", source="OMIM:249620", source="MONDO:equivalentTo", source="Orphanet:2728"} +xref: UMLS:C2931643 {source="Orphanet:2728/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2728"} is_a: MONDO:0000734 {source="DC-OMIM:249620"} ! Ohdo syndrome and variants [Term] @@ -181510,9 +181476,9 @@ synonym: "mental retardation Buenos Aires type" RELATED DEPRECATED [GARD:0003485 synonym: "mental retardation, Buenos Aires type" RELATED DEPRECATED [OMIM:249630] synonym: "Mutchinick syndrome" EXACT [GARD:0003485, OMIM:249630, Orphanet:3079] xref: GARD:0003485 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3079", source="ORDO:3079/attributed", source="ORDO:3079/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3079", source="Orphanet:3079/attributed", source="Orphanet:3079/ntbt"} xref: MESH:C563095 {source="MONDO:equivalentTo"} -xref: OMIM:249630 {source="Orphanet:3079", source="ORDO:3079/e", source="MONDO:equivalentTo", source="GARD:0003485"} +xref: OMIM:249630 {source="Orphanet:3079", source="MONDO:equivalentTo", source="Orphanet:3079/e", source="GARD:0003485"} xref: Orphanet:3079 {source="OMIM:249630", source="MONDO:equivalentTo", source="GARD:0003485"} xref: SCTID:725906006 {source="MONDO:equivalentTo"} xref: UMLS:C0796080 {source="Orphanet:3079", source="OMIM:249630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0003485"} @@ -181533,9 +181499,9 @@ synonym: "disulfiduria, mixed" RELATED [OMIM:249650] synonym: "MCDU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249650] synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical, OMIM:249650] xref: GARD:0000654 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="Orphanet:1035", source="ORDO:1035/attributed", source="ORDO:1035/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:1035", source="Orphanet:1035/attributed", source="Orphanet:1035/ntbt"} xref: MESH:C563085 {source="MONDO:equivalentTo"} -xref: OMIM:249650 {source="Orphanet:1035", source="ORDO:1035/e", source="MONDO:equivalentTo"} +xref: OMIM:249650 {source="Orphanet:1035", source="MONDO:equivalentTo", source="Orphanet:1035/e"} xref: Orphanet:1035 {source="OMIM:249650", source="MONDO:equivalentTo"} xref: UMLS:C0796055 {source="OMIM:249650", source="Orphanet:1035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="Orphanet:1035"} ! inherited neurodegenerative disorder @@ -181576,14 +181542,14 @@ synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [OMIM:249700] synonym: "mesomelic dwarfism, Langer type" EXACT [Orphanet:2632] xref: GARD:0003553 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:2632", source="ORDO:2632/attributed", source="ORDO:2632/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:2632/attributed", source="Orphanet:2632/ntbt", source="Orphanet:2632"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537267 {source="Orphanet:2632", source="ORDO:2632/e", source="MONDO:equivalentTo"} +xref: MESH:C537267 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"} xref: NCIT:C126876 {source="MONDO:equivalentTo"} -xref: OMIM:249700 {source="Orphanet:2632", source="ORDO:2632/e", source="MONDO:equivalentTo"} +xref: OMIM:249700 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"} xref: Orphanet:2632 {source="MONDO:equivalentTo", source="OMIM:249700"} xref: SCTID:38494008 {source="MONDO:equivalentTo"} -xref: UMLS:C0432230 {source="Orphanet:2632", source="NCBI:mim2gene_medline", source="ORDO:2632/e", source="MONDO:equivalentTo", source="OMIM:249700", source="NCIT:C126876"} +xref: UMLS:C0432230 {source="Orphanet:2632", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:249700", source="Orphanet:2632/e", source="NCIT:C126876"} is_a: MONDO:0019697 {source="Orphanet:2632"} ! mesomelic and rhizo-mesomelic dysplasia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "8.375" xsd:double @@ -181601,13 +181567,13 @@ synonym: "mesomelic dysplasia, Reardon type" EXACT [Orphanet:2631] synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552, OMIM:249710] synonym: "Reardon-Hall-Slaney syndrome" EXACT [GARD:0003552, Orphanet:2631] xref: GARD:0003552 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:2631", source="ORDO:2631/attributed", source="ORDO:2631/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:2631/attributed", source="Orphanet:2631/ntbt", source="Orphanet:2631"} xref: MESH:C565404 {source="MONDO:equivalentTo"} -xref: OMIM:249710 {source="GARD:0003552", source="ORDO:2631/e", source="Orphanet:2631", source="MONDO:equivalentTo"} +xref: OMIM:249710 {source="GARD:0003552", source="Orphanet:2631", source="MONDO:equivalentTo", source="Orphanet:2631/e"} xref: Orphanet:2631 {source="GARD:0003552", source="MONDO:equivalentTo", source="OMIM:249710"} xref: SCTID:715471007 {source="MONDO:equivalentTo"} xref: UMLS:C1855273 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:249710"} -xref: UMLS:C2930871 {source="ORDO:2631/e", source="Orphanet:2631", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2930871 {source="Orphanet:2631", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2631/e"} is_a: MONDO:0015161 {source="Orphanet:2631", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2631"} ! orofacial clefting syndrome is_a: MONDO:0019697 {source="Orphanet:2631"} ! mesomelic and rhizo-mesomelic dysplasia @@ -181661,14 +181627,14 @@ synonym: "pseudoarylsulfatase A deficiency" RELATED [OMIM:250100] synonym: "sulfatide lipidosis" RELATED [GARD:0003230, OMIM:250100] xref: GARD:0003230 {source="MONDO:equivalentTo"} xref: GARD:0004545 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:309263", source="ORDO:309263/attributed", source="ORDO:309263/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:309263/attributed", source="Orphanet:309263/ntbt", source="Orphanet:309263"} xref: OMIM:250100 {source="MONDO:equivalentTo", source="GARD:0003230"} xref: Orphanet:309263 {source="MONDO:equivalentTo"} xref: Orphanet:512 {source="MONDO:subClassOf", source="OMIM:250100", source="GARD:0003230"} xref: Orphanet:751 {source="OMIM:250100"} xref: SCTID:238031009 {source="MONDO:equivalentTo"} xref: UMLS:C0023522 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:250100"} -xref: UMLS:C0751276 {source="Orphanet:309263", source="ORDO:309263/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:250100"} +xref: UMLS:C0751276 {source="Orphanet:309263", source="MONDO:notFoundInDiseaseSubset", source="OMIM:250100", source="Orphanet:309263/e"} xref: UMLS:C0751278 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:250100"} xref: UMLS:C0751279 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:250100"} xref: UMLS:C1855255 {source="GARD:0004545", source="MONDO:notFoundInDiseaseSubset", source="OMIM:250100"} @@ -181692,11 +181658,11 @@ synonym: "wedge-shaped epiphyses of knees" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with intellectual disability and short stature" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED DEPRECATED [GARD:0003519] xref: GARD:0003519 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.5 {source="ORDO:1240/attributed", source="ORDO:1240/ntbt", source="Orphanet:1240"} -xref: MESH:C537350 {source="MONDO:equivalentTo", source="Orphanet:1240", source="ORDO:1240/e"} -xref: OMIM:250215 {source="MONDO:equivalentTo", source="Orphanet:1240", source="ORDO:1240/e"} +xref: ICD10CM:Q78.5 {source="Orphanet:1240/attributed", source="Orphanet:1240/ntbt", source="Orphanet:1240"} +xref: MESH:C537350 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} +xref: OMIM:250215 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} xref: Orphanet:1240 {source="OMIM:250215", source="MONDO:equivalentTo"} -xref: UMLS:C1855243 {source="OMIM:250215", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1240", source="ORDO:1240/e"} +xref: UMLS:C1855243 {source="OMIM:250215", source="Orphanet:1240/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1240"} is_a: MONDO:0019693 {source="Orphanet:1240"} ! multiple metaphyseal dysplasia property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia xsd:anyURI {source="GARD:0003519"} @@ -181714,11 +181680,11 @@ synonym: "SMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250220] synonym: "spondylometaphyseal dysplasia Sedaghatian type" RELATED [GARD:0004993] synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:250220] xref: GARD:0004993 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:93317/attributed", source="ORDO:93317/ntbt", source="Orphanet:93317"} -xref: MESH:C535798 {source="MONDO:equivalentTo", source="ORDO:93317/e", source="Orphanet:93317"} -xref: OMIM:250220 {source="MONDO:equivalentTo", source="ORDO:93317/e", source="Orphanet:93317"} +xref: ICD10CM:Q77.8 {source="Orphanet:93317", source="Orphanet:93317/attributed", source="Orphanet:93317/ntbt"} +xref: MESH:C535798 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} +xref: OMIM:250220 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: Orphanet:93317 {source="MONDO:equivalentTo", source="OMIM:250220"} -xref: UMLS:C1855229 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93317/e", source="Orphanet:93317", source="OMIM:250220"} +xref: UMLS:C1855229 {source="Orphanet:93317/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93317", source="OMIM:250220"} is_a: MONDO:0016763 {source="DC-OMIM:250220"} ! spondylometaphyseal dysplasia is_a: MONDO:0019694 {source="Orphanet:93317"} ! spondylodysplastic dysplasia intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia @@ -181734,7 +181700,7 @@ def: "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal subset: ordo_disease {source="Orphanet:166038"} synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230] xref: MESH:C565400 {source="MONDO:equivalentTo"} -xref: OMIM:250230 {source="ORDO:166038/e", source="MONDO:equivalentTo", source="Orphanet:166038"} +xref: OMIM:250230 {source="MONDO:equivalentTo", source="Orphanet:166038", source="Orphanet:166038/e"} xref: Orphanet:166038 {source="MONDO:equivalentTo", source="OMIM:250230"} xref: UMLS:C1855217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166038", source="OMIM:250230"} is_a: MONDO:0019693 {source="Orphanet:166038"} ! multiple metaphyseal dysplasia @@ -181758,16 +181724,16 @@ synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, Orphan synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250] xref: DOID:14773 {source="MONDO:equivalentTo"} xref: GARD:0006996 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:175/attributed", source="ORDO:175/ntbt", source="Orphanet:175"} -xref: MedDRA:10069596 {source="ORDO:175/e", source="Orphanet:175"} -xref: MESH:C535916 {source="MONDO:equivalentTo", source="ORDO:175/e", source="DOID:14773", source="Orphanet:175"} +xref: ICD10CM:Q78.8 {source="Orphanet:175", source="Orphanet:175/attributed", source="Orphanet:175/ntbt"} +xref: MedDRA:10069596 {source="Orphanet:175/e", source="Orphanet:175"} +xref: MESH:C535916 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"} xref: NCIT:C61245 {source="MONDO:equivalentTo", source="DOID:14773"} -xref: OMIM:250250 {source="MONDO:equivalentTo", source="ORDO:175/e", source="DOID:14773", source="Orphanet:175"} +xref: OMIM:250250 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"} xref: OMIM:250460 {source="MONDO:superClassOf", source="Orphanet:175"} xref: Orphanet:175 {source="MONDO:equivalentTo", source="OMIM:250250"} xref: SCTID:234421004 {source="DOID:14773"} xref: SCTID:7720002 {source="MONDO:equivalentTo", source="DOID:14773"} -xref: UMLS:C0220748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250250", source="ORDO:175/e", source="DOID:14773", source="Orphanet:175", source="NCIT:C61245"} +xref: UMLS:C0220748 {source="Orphanet:175/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250250", source="DOID:14773", source="Orphanet:175", source="NCIT:C61245"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61245", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:14773", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015708 {source="Orphanet:175"} ! immuno-osseous dysplasia @@ -181798,12 +181764,12 @@ synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [OMIM:250400] synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400] synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563] xref: GARD:0003563 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.5 {source="ORDO:2501/attributed", source="ORDO:2501/ntbt", source="Orphanet:2501"} -xref: MESH:C537353 {source="ORDO:2501/e", source="MONDO:equivalentTo", source="Orphanet:2501"} -xref: OMIM:250400 {source="ORDO:2501/e", source="MONDO:equivalentTo", source="Orphanet:2501"} +xref: ICD10CM:Q78.5 {source="Orphanet:2501", source="Orphanet:2501/attributed", source="Orphanet:2501/ntbt"} +xref: MESH:C537353 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} +xref: OMIM:250400 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} xref: Orphanet:2501 {source="MONDO:equivalentTo", source="OMIM:250400"} xref: SCTID:254084008 {source="MONDO:equivalentTo"} -xref: UMLS:C0432225 {source="ORDO:2501/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2501", source="OMIM:250400"} +xref: UMLS:C0432225 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e", source="OMIM:250400"} is_a: MONDO:0019693 {source="Orphanet:2501"} ! multiple metaphyseal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7159 {source="mim2gene_medgen"} ! MMP13 relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250400", source="linkedlifedata"} ! metaphyseal chondrodysplasia @@ -181818,7 +181784,7 @@ synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [OMIM: synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [OMIM:250410] synonym: "RPSKA" RELATED ABBREVIATION [OMIM:250410] xref: MESH:C565398 {source="MONDO:equivalentTo"} -xref: OMIM:250410 {source="Orphanet:166035", source="ORDO:166035/e", source="MONDO:equivalentTo"} +xref: OMIM:250410 {source="Orphanet:166035", source="MONDO:equivalentTo", source="Orphanet:166035/e"} xref: Orphanet:166035 {source="MONDO:equivalentTo", source="OMIM:250410"} xref: UMLS:C1855188 {source="Orphanet:166035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250410"} is_a: MONDO:0019693 {source="Orphanet:166035"} ! multiple metaphyseal dysplasia @@ -181838,9 +181804,9 @@ synonym: "metaphyseal dysostosis, conductive hearing loss and mental retardation synonym: "metaphyseal dysostosis, intellectual disability, and conductive deafness" RELATED [OMIM:250420] synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED DEPRECATED [OMIM:250420] xref: GARD:0003566 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.5 {source="ORDO:2502/attributed", source="ORDO:2502/ntbt", source="Orphanet:2502"} +xref: ICD10CM:Q78.5 {source="Orphanet:2502", source="Orphanet:2502/attributed", source="Orphanet:2502/ntbt"} xref: MESH:C565396 {source="MONDO:equivalentTo"} -xref: OMIM:250420 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="ORDO:2502/e"} +xref: OMIM:250420 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="Orphanet:2502/e"} xref: Orphanet:2502 {source="GARD:0003566", source="MONDO:equivalentTo", source="OMIM:250420"} xref: UMLS:C1855175 {source="GARD:0003566", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2502", source="OMIM:250420"} is_a: MONDO:0000508 {source="Orphanet:2502"} ! syndromic intellectual disability @@ -181907,9 +181873,9 @@ synonym: "methacrylic aciduria" EXACT [OMIM:250620, Orphanet:88639] synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "valine metabolic defect" RELATED [OMIM:250620, Orphanet:88639] xref: GARD:0013202 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:88639/attributed", source="ORDO:88639/ntbt", source="Orphanet:88639"} +xref: ICD10CM:E71.1 {source="Orphanet:88639", source="Orphanet:88639/attributed", source="Orphanet:88639/ntbt"} xref: MESH:C562803 {source="MONDO:equivalentTo"} -xref: OMIM:250620 {source="ORDO:88639/e", source="MONDO:equivalentTo", source="Orphanet:88639"} +xref: OMIM:250620 {source="MONDO:equivalentTo", source="Orphanet:88639", source="Orphanet:88639/e"} xref: Orphanet:88639 {source="MONDO:equivalentTo", source="OMIM:250620"} xref: SCTID:722488009 {source="MONDO:equivalentTo"} xref: UMLS:C0342738 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88639", source="OMIM:250620"} @@ -181932,7 +181898,7 @@ xref: Orphanet:621 {source="MONDO:subClassOf", source="OMIM:250700"} xref: SCTID:234397008 {source="MONDO:equivalentTo"} xref: UMLS:C0472786 {source="OMIM:250700", source="MONDO:equivalentTo"} xref: UMLS:C0878679 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018963 {source="ORDO:621/btnt"} ! hereditary methemoglobinemia +is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia property_value: confidence "0.11111111111111449" xsd:double [Term] @@ -181954,7 +181920,7 @@ xref: OMIM:250790 {source="MONDO:equivalentTo"} xref: Orphanet:621 {source="MONDO:subClassOf", source="OMIM:250790"} xref: UMLS:C2673427 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250790"} is_a: MONDO:0001117 {source="DC-OMIM:250790", source="MESH:C567102", source="MONDO:Redundant", source="indirect"} ! methemoglobinemia -is_a: MONDO:0018963 {source="ORDO:621/btnt"} ! hereditary methemoglobinemia +is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia intersection_of: MONDO:0001117 ! methemoglobinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2570 ! CYB5A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2570 {source="mim2gene_medgen"} ! CYB5A @@ -181987,7 +181953,7 @@ xref: UMLS:C2749560 {source="OMIM:250800", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C2749561 {source="OMIM:250800", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2749562 {source="OMIM:250800", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001117 {source="DC-OMIM:250800", source="MONDO:Redundant", source="indirect"} ! methemoglobinemia -is_a: MONDO:0018963 {source="ORDO:621/btnt"} ! hereditary methemoglobinemia +is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2873 {source="mim2gene_medgen"} ! CYB5R3 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.11111111111111449" xsd:double @@ -182008,9 +181974,9 @@ synonym: "methionine adenosyltransferase deficiency" EXACT CLINGEN_PREFERRED [OM synonym: "methionine adenosyltransferase deficiency, autosomal recessive" EXACT [OMIM:250850, OMIM:genemap2] synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850] xref: GARD:0008397 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="Orphanet:168598", source="ORDO:168598/attributed", source="ORDO:168598/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:168598", source="Orphanet:168598/attributed", source="Orphanet:168598/ntbt"} xref: NCIT:C123435 {source="MONDO:equivalentTo"} -xref: OMIM:250850 {source="Orphanet:168598", source="ORDO:168598/e", source="MONDO:equivalentTo"} +xref: OMIM:250850 {source="Orphanet:168598", source="MONDO:equivalentTo", source="Orphanet:168598/e"} xref: Orphanet:168598 {source="MONDO:equivalentTo", source="OMIM:250850"} xref: UMLS:C0268621 {source="Orphanet:168598", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:250850", source="NCIT:C123435"} is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C123435", source="Orphanet:168598/inferred"} ! metabolic disease @@ -182053,8 +182019,8 @@ xref: DOID:0050733 {source="EFO:0005597", source="MONDO:equivalentTo"} xref: EFO:0005597 {source="MONDO:equivalentTo"} xref: GARD:0002733 {source="MONDO:equivalentTo"} xref: GARD:0003577 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="ORDO:2170/attributed", source="ORDO:2170/ntbt", source="Orphanet:2170"} -xref: OMIM:250940 {source="MONDO:equivalentTo", source="ORDO:2170/e", source="Orphanet:2170"} +xref: ICD10CM:E72.1 {source="Orphanet:2170/attributed", source="Orphanet:2170/ntbt", source="Orphanet:2170"} +xref: OMIM:250940 {source="Orphanet:2170/e", source="MONDO:equivalentTo", source="Orphanet:2170"} xref: Orphanet:2170 {source="MONDO:equivalentTo", source="OMIM:250940"} xref: Orphanet:622 {source="MONDO:subClassOf", source="OMIM:250940"} xref: SCTID:721187005 {source="MONDO:equivalentTo"} @@ -182097,14 +182063,14 @@ synonym: "MGA1" EXACT ABBREVIATION [DOID:0110002, Orphanet:67046] synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250950] xref: DOID:0110002 {source="MONDO:equivalentTo"} xref: GARD:0010321 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:67046/attributed", source="ORDO:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"} +xref: ICD10CM:E71.1 {source="Orphanet:67046/attributed", source="Orphanet:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"} xref: MESH:C562801 {source="MONDO:equivalentTo"} xref: NCIT:C98683 {source="MONDO:equivalentTo"} -xref: OMIM:250950 {source="MONDO:equivalentTo", source="ORDO:67046/e", source="DOID:0110002", source="Orphanet:67046"} +xref: OMIM:250950 {source="Orphanet:67046/e", source="MONDO:equivalentTo", source="DOID:0110002", source="Orphanet:67046"} xref: Orphanet:67046 {source="MONDO:equivalentTo", source="DOID:0110002", source="OMIM:250950"} xref: SCTID:237951008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C98683", source="ORDO:67046/e", source="Orphanet:67046", source="OMIM:250950"} -xref: UMLS:C0342728 {source="MONDO:equivalentObsolete", source="ORDO:67046/e", source="Orphanet:67046"} +xref: UMLS:C0342727 {source="Orphanet:67046/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C98683", source="Orphanet:67046", source="OMIM:250950"} +xref: UMLS:C0342728 {source="Orphanet:67046/e", source="MONDO:equivalentObsolete", source="Orphanet:67046"} is_a: MONDO:0017359 {source="DC-OMIM:250950", source="DOID:0110002", source="MONDO:Redundant", source="NCIT:C98683", source="OMIM:250950", source="Orphanet:67046", source="linkedlifedata"} ! 3-methylglutaconic aciduria intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/890 ! AUH @@ -182129,12 +182095,12 @@ synonym: "MGCA4" EXACT ABBREVIATION [DOID:0110006, MONDO:Lexical, OMIM:250951] synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342] xref: DOID:0110006 {source="MONDO:equivalentTo"} xref: GARD:0010342 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:67048/attributed", source="ORDO:67048/ntbt", source="Orphanet:67048"} +xref: ICD10CM:E71.1 {source="Orphanet:67048/attributed", source="Orphanet:67048/ntbt", source="Orphanet:67048"} xref: MESH:C565393 {source="MONDO:equivalentTo"} -xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="ORDO:67048/e", source="Orphanet:67048"} +xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="Orphanet:67048/e", source="MONDO:equivalentTo", source="Orphanet:67048"} xref: Orphanet:67048 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="OMIM:250951"} xref: SCTID:297233004 {source="MONDO:equivalentTo"} -xref: UMLS:C0574085 {source="MONDO:equivalentObsolete", source="ORDO:67048/e", source="Orphanet:67048"} +xref: UMLS:C0574085 {source="MONDO:equivalentObsolete", source="Orphanet:67048/e", source="Orphanet:67048"} xref: UMLS:C1855126 {source="GARD:0010342", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:250951", source="Orphanet:67048"} is_a: MONDO:0017359 {source="DC-OMIM:250951", source="DOID:0110006", source="OMIM:250951", source="Orphanet:67048", source="linkedlifedata"} ! 3-methylglutaconic aciduria property_value: confidence "141.49999999999832" xsd:double @@ -182159,9 +182125,9 @@ synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [Orphanet:27] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [DOID:0060740, Orphanet:27] xref: DOID:0060740 {source="MONDO:equivalentTo"} xref: GARD:0003586 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:27/ntbt", source="DOID:0060740", source="Orphanet:27", source="ORDO:27/inclusion"} +xref: ICD10CM:E71.1 {source="DOID:0060740", source="Orphanet:27/inclusion", source="Orphanet:27", source="Orphanet:27/ntbt"} xref: NCIT:C148366 {source="MONDO:equivalentTo"} -xref: OMIM:251000 {source="DOID:0060740", source="MONDO:equivalentTo", source="Orphanet:27", source="ORDO:27/e"} +xref: OMIM:251000 {source="DOID:0060740", source="MONDO:equivalentTo", source="Orphanet:27", source="Orphanet:27/e"} xref: Orphanet:27 {source="DOID:0060740", source="MONDO:equivalentTo", source="OMIM:251000"} xref: Orphanet:289916 {source="MONDO:superClassOf", source="OMIM:251000"} xref: Orphanet:79312 {source="MONDO:superClassOf", source="OMIM:251000"} @@ -182200,10 +182166,10 @@ synonym: "vitamin B12-responsive methylmalonic acidemia type cblA" EXACT CLINGEN synonym: "vitamin B12-responsive methylmalonic aciduria type cblA" EXACT [Orphanet:79310] xref: DOID:0060742 {source="MONDO:equivalentTo"} xref: GARD:0005500 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:79310/attributed", source="ORDO:79310/ntbt", source="DOID:0060742", source="Orphanet:79310"} -xref: MESH:C537360 {source="ORDO:79310/e", source="Orphanet:79310"} +xref: ICD10CM:E71.1 {source="DOID:0060742", source="Orphanet:79310/attributed", source="Orphanet:79310/ntbt", source="Orphanet:79310"} +xref: MESH:C537360 {source="Orphanet:79310/e", source="Orphanet:79310"} xref: NCIT:C142171 {source="MONDO:equivalentTo"} -xref: OMIM:251100 {source="MONDO:equivalentTo", source="DOID:0060742", source="ORDO:79310/e", source="Orphanet:79310"} +xref: OMIM:251100 {source="Orphanet:79310/e", source="MONDO:equivalentTo", source="DOID:0060742", source="Orphanet:79310"} xref: Orphanet:28 {source="MONDO:subClassOf", source="OMIM:251100"} xref: Orphanet:79310 {source="MONDO:equivalentTo", source="DOID:0060742", source="OMIM:251100"} xref: SCTID:73843004 {source="MONDO:equivalentTo"} @@ -182232,10 +182198,10 @@ synonym: "vitamin B12-responsive methylmalonic acidemia type cblB" EXACT CLINGEN synonym: "vitamin B12-responsive methylmalonic aciduria, type cblB" EXACT [Orphanet:79311] xref: DOID:0060743 {source="MONDO:equivalentTo"} xref: GARD:0009479 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:79311/attributed", source="ORDO:79311/ntbt", source="DOID:0060743", source="Orphanet:79311"} -xref: MESH:C537361 {source="ORDO:79311/e", source="Orphanet:79311"} +xref: ICD10CM:E71.1 {source="DOID:0060743", source="Orphanet:79311/attributed", source="Orphanet:79311/ntbt", source="Orphanet:79311"} +xref: MESH:C537361 {source="Orphanet:79311/e", source="Orphanet:79311"} xref: NCIT:C142172 {source="MONDO:equivalentTo"} -xref: OMIM:251110 {source="DOID:0060743", source="MONDO:equivalentTo", source="ORDO:79311/e", source="Orphanet:79311"} +xref: OMIM:251110 {source="Orphanet:79311/e", source="DOID:0060743", source="MONDO:equivalentTo", source="Orphanet:79311"} xref: Orphanet:28 {source="MONDO:subClassOf", source="OMIM:251110"} xref: Orphanet:79311 {source="DOID:0060743", source="MONDO:equivalentTo", source="OMIM:251110"} xref: UMLS:C1855102 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251110"} @@ -182259,9 +182225,9 @@ synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120] synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120] -xref: ICD10CM:E71.1 {source="ORDO:308425/attributed", source="ORDO:308425/ntbt", source="Orphanet:308425"} +xref: ICD10CM:E71.1 {source="Orphanet:308425/attributed", source="Orphanet:308425/ntbt", source="Orphanet:308425"} xref: MESH:C565386 {source="MONDO:equivalentTo"} -xref: OMIM:251120 {source="MONDO:equivalentTo", source="ORDO:308425/e", source="Orphanet:308425"} +xref: OMIM:251120 {source="Orphanet:308425/e", source="MONDO:equivalentTo", source="Orphanet:308425"} xref: Orphanet:308425 {source="MONDO:equivalentTo", source="OMIM:251120"} xref: SCTID:765137006 {source="MONDO:equivalentTo"} xref: UMLS:C1855100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251120", source="Orphanet:308425"} @@ -182280,12 +182246,12 @@ synonym: "microcephalic primordial dwarfism and cataracts" RELATED [GARD:0003602 synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602] synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190] xref: GARD:0003602 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:2643", source="ORDO:2643/attributed", source="ORDO:2643/ntbt"} -xref: MESH:C537321 {source="Orphanet:2643", source="ORDO:2643/e", source="MONDO:equivalentTo"} -xref: OMIM:251190 {source="Orphanet:2643", source="ORDO:2643/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.1 {source="Orphanet:2643/attributed", source="Orphanet:2643/ntbt", source="Orphanet:2643"} +xref: MESH:C537321 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} +xref: OMIM:251190 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} xref: Orphanet:2643 {source="OMIM:251190", source="MONDO:equivalentTo"} xref: SCTID:715482004 {source="MONDO:equivalentTo"} -xref: UMLS:C1855089 {source="OMIM:251190", source="Orphanet:2643", source="NCBI:mim2gene_medline", source="ORDO:2643/e", source="MONDO:equivalentTo"} +xref: UMLS:C1855089 {source="OMIM:251190", source="Orphanet:2643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2643/e"} is_a: MONDO:0017950 {source="DC-OMIM:251190", source="Orphanet:2643"} ! microcephalic primordial dwarfism property_value: confidence "33.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type xsd:anyURI {source="GARD:0003602"} @@ -182326,14 +182292,14 @@ synonym: "severe microcephaly with intellectual disability and dilated cardiomyo synonym: "severe microcephaly with mental retardation and dilated cardiomyopathy" RELATED DEPRECATED [GARD:0003609] synonym: "Winship-Viljoen-Leary syndrome" EXACT [Orphanet:2515] xref: GARD:0003609 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2515/attributed", source="ORDO:2515/ntbt", source="Orphanet:2515"} -xref: MESH:C536711 {source="MONDO:equivalentTo", source="Orphanet:2515", source="ORDO:2515/e"} -xref: MESH:C537324 {source="Orphanet:2515", source="ORDO:2515/e"} -xref: OMIM:251220 {source="MONDO:equivalentTo", source="Orphanet:2515", source="ORDO:2515/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2515", source="Orphanet:2515/attributed", source="Orphanet:2515/ntbt"} +xref: MESH:C536711 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"} +xref: MESH:C537324 {source="Orphanet:2515", source="Orphanet:2515/e"} +xref: OMIM:251220 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"} xref: Orphanet:2515 {source="MONDO:equivalentTo", source="OMIM:251220"} xref: SCTID:719380003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796061 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2515", source="ORDO:2515/e"} -xref: UMLS:C1855080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251220", source="Orphanet:2515", source="ORDO:2515/e"} +xref: UMLS:C0796061 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2515", source="Orphanet:2515/e"} +xref: UMLS:C1855080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251220", source="Orphanet:2515", source="Orphanet:2515/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2515", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2515"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019117 ! genetic nervous system disorder @@ -182366,13 +182332,13 @@ synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinem synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome" EXACT [Orphanet:3132] synonym: "Say Barber Miller syndrome" RELATED [GARD:0000239] xref: GARD:0000239 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3132/attributed", source="ORDO:3132/ntbt", source="Orphanet:3132"} -xref: MESH:C536618 {source="MONDO:equivalentTo", source="Orphanet:3132", source="ORDO:3132/e"} -xref: OMIM:251240 {source="MONDO:equivalentTo", source="Orphanet:3132", source="ORDO:3132/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3132/attributed", source="Orphanet:3132/ntbt", source="Orphanet:3132"} +xref: MESH:C536618 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"} +xref: OMIM:251240 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"} xref: Orphanet:3132 {source="MONDO:equivalentTo", source="OMIM:251240"} xref: SCTID:721903007 {source="MONDO:equivalentTo"} xref: UMLS:C1855078 {source="NCBI:mim2gene_medline", source="OMIM:251240", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931267 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3132", source="ORDO:3132/e"} +xref: UMLS:C2931267 {source="Orphanet:3132/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3132"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3132", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production is_a: MONDO:0015159 {source="Orphanet:3132"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -182390,12 +182356,12 @@ synonym: "microcephaly with cervical spine fusion anomalies" RELATED [OMIM:25125 synonym: "microcephaly, mild intellectual disability, short stature, and skeletal anomalies" RELATED [GARD:0003610] synonym: "microcephaly, mild mental retardation, short stature, and skeletal anomalies" RELATED DEPRECATED [GARD:0003610] xref: GARD:0003610 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2522", source="ORDO:2522/attributed", source="ORDO:2522/ntbt"} -xref: MESH:C537325 {source="Orphanet:2522", source="ORDO:2522/e", source="MONDO:equivalentTo"} -xref: OMIM:251250 {source="Orphanet:2522", source="ORDO:2522/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2522/attributed", source="Orphanet:2522/ntbt", source="Orphanet:2522"} +xref: MESH:C537325 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"} +xref: OMIM:251250 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"} xref: Orphanet:2522 {source="MONDO:equivalentTo", source="OMIM:251250"} xref: SCTID:715462003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796066 {source="Orphanet:2522", source="NCBI:mim2gene_medline", source="ORDO:2522/e", source="MONDO:equivalentTo", source="OMIM:251250"} +xref: UMLS:C0796066 {source="Orphanet:2522", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251250", source="Orphanet:2522/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2522", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019117 ! genetic nervous system disorder @@ -182414,7 +182380,7 @@ synonym: "JWDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251255] synonym: "Kelly syndrome" RELATED [OMIM:251255] synonym: "microcephaly with intellectual disability and digital anomalies" RELATED [OMIM:251255] synonym: "microcephaly with mental retardation and digital anomalies" RELATED DEPRECATED [OMIM:251255] -xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="ORDO:313795/e"} +xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="Orphanet:313795/e"} xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C0796063 {source="Orphanet:313795", source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C2673414 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -182452,17 +182418,17 @@ synonym: "Seemanova syndrome 2" RELATED [OMIM:251260] synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647] xref: DOID:7400 {source="MONDO:equivalentTo"} xref: GARD:0003904 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:647", source="ORDO:647/attributed", source="ORDO:647/ntbt"} -xref: MedDRA:10067857 {source="ORDO:647/e", source="Orphanet:647"} -xref: MESH:C531759 {source="ORDO:647/e", source="Orphanet:647"} -xref: MESH:D049932 {source="DOID:7400", source="ORDO:647/e", source="Orphanet:647", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:647/attributed", source="Orphanet:647/ntbt", source="Orphanet:647"} +xref: MedDRA:10067857 {source="Orphanet:647", source="Orphanet:647/e"} +xref: MESH:C531759 {source="Orphanet:647", source="Orphanet:647/e"} +xref: MESH:D049932 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"} xref: NCIT:C4692 {source="DOID:7400", source="MONDO:equivalentTo"} -xref: OMIM:251260 {source="DOID:7400", source="ORDO:647/e", source="Orphanet:647", source="MONDO:equivalentTo"} +xref: OMIM:251260 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"} xref: Orphanet:647 {source="OMIM:251260", source="MONDO:equivalentTo"} xref: SCTID:234638009 {source="DOID:7400", source="MONDO:equivalentTo"} -xref: UMLS:C0398791 {source="DOID:7400", source="NCIT:C4692", source="ORDO:647/e", source="OMIM:251260", source="Orphanet:647", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0398791 {source="DOID:7400", source="NCIT:C4692", source="OMIM:251260", source="Orphanet:647", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:647/e"} xref: UMLS:C1855057 {source="OMIM:251260", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2930831 {source="ORDO:647/e", source="Orphanet:647", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2930831 {source="Orphanet:647", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:647/e"} xref: UMLS:CN860323 {source="MONDO:equivalentTo"} is_a: MONDO:0006025 {source="DOID:7400", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:647", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -182491,10 +182457,10 @@ synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518] synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080105 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2518/attributed", source="ORDO:2518/ntbt", source="Orphanet:2518"} +xref: ICD10CM:Q87.8 {source="Orphanet:2518/attributed", source="Orphanet:2518/ntbt", source="Orphanet:2518"} xref: NCIT:C129306 {source="MONDO:equivalentTo"} -xref: OMIM:251270 {source="MONDO:equivalentTo", source="DOID:0080105", source="ORDO:2518/e", source="Orphanet:2518"} -xref: OMIM:616335 {source="ORDO:2518/btnt", source="MONDO:superClassOf", source="Orphanet:2518"} +xref: OMIM:251270 {source="Orphanet:2518/e", source="MONDO:equivalentTo", source="DOID:0080105", source="Orphanet:2518"} +xref: OMIM:616335 {source="MONDO:superClassOf", source="Orphanet:2518/btnt", source="Orphanet:2518"} xref: Orphanet:2518 {source="OMIM:251270", source="MONDO:equivalentTo"} xref: UMLS:C1855056 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3278481 {source="OMIM:251270", source="MONDO:notFoundInDiseaseSubset"} @@ -182547,13 +182513,13 @@ synonym: "pseudo-TORCH syndrome" EXACT [OMIM:251290, Orphanet:1229] xref: DOID:0050656 {source="MONDO:equivalentTo"} xref: GARD:0000815 {source="MONDO:equivalentTo"} xref: GARD:0012426 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1229/attributed", source="ORDO:1229/ntbt", source="Orphanet:1229"} -xref: OMIM:251290 {source="DOID:0050656", source="MONDO:superClassOf", source="ORDO:1229/e", source="Orphanet:1229", source="GARD:0000815"} +xref: ICD10CM:Q87.8 {source="Orphanet:1229/attributed", source="Orphanet:1229/ntbt", source="Orphanet:1229"} +xref: OMIM:251290 {source="Orphanet:1229/e", source="DOID:0050656", source="MONDO:superClassOf", source="Orphanet:1229", source="GARD:0000815"} xref: OMIMPS:251290 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1229 {source="OMIM:251290", source="MONDO:equivalentTo"} xref: SCTID:722390006 {source="MONDO:equivalentTo"} -xref: UMLS:C2931662 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1229/e", source="Orphanet:1229", source="GARD:0000815"} -xref: UMLS:C3489725 {source="OMIM:251290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1229/e", source="Orphanet:1229"} +xref: UMLS:C2931662 {source="Orphanet:1229/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1229", source="GARD:0000815"} +xref: UMLS:C3489725 {source="Orphanet:1229/e", source="OMIM:251290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1229"} is_a: MONDO:0006025 {source="DOID:0050656", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0019117 {source="Orphanet:1229"} ! genetic nervous system disorder relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:251290", source="Orphanet:1229"} ! Autosomal recessive inheritance @@ -182586,14 +182552,14 @@ synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM xref: DOID:0080694 {source="MONDO:equivalentTo"} xref: GARD:0000065 {source="MONDO:equivalentTo"} xref: GARD:65 {source="DOID:0080694"} -xref: ICD10CM:Q04.3 {source="ORDO:2065/attributed", source="ORDO:2065/ntbt", source="Orphanet:2065"} -xref: MESH:C537548 {source="DOID:0060364", source="DOID:0080694", source="MONDO:equivalentTo", source="Orphanet:2065", source="ORDO:2065/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:2065/attributed", source="Orphanet:2065/ntbt", source="Orphanet:2065"} +xref: MESH:C537548 {source="DOID:0060364", source="Orphanet:2065/e", source="DOID:0080694", source="MONDO:equivalentTo", source="Orphanet:2065"} xref: NCIT:C132195 {source="DOID:0080694", source="MONDO:equivalentTo"} -xref: OMIM:251300 {source="GARD:0000065", source="DOID:0060364", source="MONDO:superClassOf", source="Orphanet:2065", source="ORDO:2065/e"} +xref: OMIM:251300 {source="GARD:0000065", source="DOID:0060364", source="Orphanet:2065/e", source="MONDO:superClassOf", source="Orphanet:2065"} xref: OMIMPS:251300 {source="MONDO:cjm", source="DOID:0080694", source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="GARD:0000065", source="DOID:0060364", source="DOID:0080694", source="MONDO:equivalentTo", source="OMIM:251300"} xref: SCTID:721297008 {source="DOID:0080694", source="MONDO:equivalentTo"} -xref: UMLS:C0795949 {source="GARD:0000065", source="DOID:0060364", source="NCIT:C132195", source="DOID:0080694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251300", source="Orphanet:2065", source="ORDO:2065/e"} +xref: UMLS:C0795949 {source="GARD:0000065", source="DOID:0060364", source="NCIT:C132195", source="Orphanet:2065/e", source="DOID:0080694", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251300", source="Orphanet:2065"} is_a: MONDO:0000508 {source="Orphanet:2065"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:0080694", source="MONDO:Redundant", source="NCIT:C132195", source="indirect"} ! syndromic disease is_a: MONDO:0015163 {source="Orphanet:2065"} ! primary glomerular disease @@ -182652,7 +182618,7 @@ xref: OMIM:251505 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:251505"} xref: SCTID:715771008 {source="MONDO:equivalentTo"} xref: UMLS:C1855053 {source="OMIM:251505", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000170 {source="MONDO:0009630/inferred", source="MONDO:Redundant", source="OMIM:251505", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:0009630/inferred", source="MONDO:Redundant", source="OMIM:251505", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma property_value: confidence "0.8448594714285722" xsd:double [Term] @@ -182740,13 +182706,13 @@ synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/ synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern] xref: DOID:0060775 {source="MONDO:equivalentTo"} xref: GARD:0007039 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:P78.3 {source="ORDO:2290/attributed", source="ORDO:2290/ntbt", source="DOID:0060775", source="Orphanet:2290"} +xref: ICD10CM:P78.3 {source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/attributed", source="Orphanet:2290/ntbt"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068494 {source="Orphanet:2290", source="ORDO:2290/e"} -xref: OMIM:251850 {source="MONDO:equivalentTo", source="DOID:0060775", source="Orphanet:2290", source="ORDO:2290/e"} +xref: MedDRA:10068494 {source="Orphanet:2290", source="Orphanet:2290/e"} +xref: OMIM:251850 {source="MONDO:equivalentTo", source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/e"} xref: Orphanet:2290 {source="MONDO:equivalentTo", source="DOID:0060775", source="OMIM:251850"} xref: SCTID:235729009 {source="MONDO:equivalentTo"} -xref: UMLS:C0341306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2290", source="ORDO:2290/e", source="OMIM:251850"} +xref: UMLS:C0341306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2290", source="OMIM:251850", source="Orphanet:2290/e"} is_a: MONDO:0000824 {source="DC-OMIM:251850", source="DOID:0060775", source="OMIM:251850"} ! congenital diarrhea is_a: MONDO:0015182 {source="Orphanet:2290"} ! congenital enteropathy involving intestinal mucosa development is_a: MONDO:0019126 {source="Orphanet:2290"} ! intractable diarrhea of infancy @@ -182767,7 +182733,7 @@ synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MOND synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934] synonym: "MTDPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251880] xref: DOID:0080121 {source="MONDO:equivalentTo"} -xref: OMIM:251880 {source="DOID:0080121", source="MONDO:equivalentTo", source="ORDO:279934/e", source="Orphanet:279934"} +xref: OMIM:251880 {source="DOID:0080121", source="MONDO:equivalentTo", source="Orphanet:279934", source="Orphanet:279934/e"} xref: Orphanet:279934 {source="MONDO:equivalentTo", source="OMIM:251880"} xref: UMLS:C3151513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:251880"} xref: UMLS:C4310935 {source="MONDO:equivalentTo"} @@ -182789,15 +182755,15 @@ synonym: "mitochondrial cytopathy" EXACT [DOID:699] synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900] xref: DOID:699 {source="MONDO:equivalentTo"} xref: GARD:0011956 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="Orphanet:206966", source="ORDO:206966/attributed", source="ORDO:206966/ntbt"} -xref: MedDRA:10027710 {source="Orphanet:206966", source="ORDO:206966/e"} -xref: MESH:D017240 {source="DOID:699", source="Orphanet:206966", source="ORDO:206966/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.3 {source="Orphanet:206966", source="Orphanet:206966/attributed", source="Orphanet:206966/ntbt"} +xref: MedDRA:10027710 {source="Orphanet:206966", source="Orphanet:206966/e"} +xref: MESH:D017240 {source="DOID:699", source="Orphanet:206966", source="MONDO:equivalentTo", source="Orphanet:206966/e"} xref: NCIT:C101328 {source="DOID:699", source="MONDO:equivalentTo"} xref: OMIM:251900 {source="DOID:699", source="MONDO:superClassOf"} xref: Orphanet:206966 {source="MONDO:equivalentTo"} xref: SCTID:16851005 {source="DOID:699"} xref: SCTID:240096000 {source="DOID:699"} -xref: UMLS:C0162670 {source="DOID:699", source="Orphanet:206966", source="OMIM:251900", source="ORDO:206966/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C101328"} +xref: UMLS:C0162670 {source="DOID:699", source="Orphanet:206966", source="OMIM:251900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:206966/e", source="NCIT:C101328"} is_a: MONDO:0002921 {source="NCIT:C101328"} ! congenital structural myopathy is_a: MONDO:0004069 {source="MESH:D017240"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0005336 {source="DOID:699", source="MONDO:Redundant", source="NCIT:C101328/inferred"} ! myopathy @@ -182855,14 +182821,14 @@ synonym: "orofaciodigital syndrome 2" RELATED [OMIM:252100] synonym: "orofaciodigital syndrome II" RELATED [GARD:0003701] synonym: "orofaciodigital syndrome type 2" RELATED [Orphanet:2751] xref: GARD:0003701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2751", source="ORDO:2751/attributed", source="ORDO:2751/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2751", source="Orphanet:2751/attributed", source="Orphanet:2751/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538585 {source="Orphanet:2751", source="ORDO:2751/e"} -xref: OMIM:252100 {source="Orphanet:2751", source="ORDO:2751/e", source="MONDO:equivalentTo"} +xref: MESH:C538585 {source="Orphanet:2751", source="Orphanet:2751/e"} +xref: OMIM:252100 {source="Orphanet:2751", source="MONDO:equivalentTo", source="Orphanet:2751/e"} xref: Orphanet:2751 {source="MONDO:equivalentTo", source="OMIM:252100"} xref: SCTID:1779005 {source="MONDO:equivalentTo"} -xref: UMLS:C0026363 {source="Orphanet:2751", source="ORDO:2751/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:252100"} -xref: UMLS:C2931889 {source="Orphanet:2751", source="ORDO:2751/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0026363 {source="Orphanet:2751", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:252100", source="Orphanet:2751/e"} +xref: UMLS:C2931889 {source="Orphanet:2751", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2751/e"} is_a: MONDO:0000508 {source="Orphanet:2751"} ! syndromic intellectual disability is_a: MONDO:0015375 {source="Orphanet:2751", source="linkedlifedata"} ! orofaciodigital syndrome is_a: MONDO:0019589 {source="Orphanet:2751"} ! syndromic genetic hearing loss @@ -182883,9 +182849,9 @@ synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MOND synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1, OMIM:252150] synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [OMIM:252150] xref: DOID:0111164 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="ORDO:308386/attributed", source="ORDO:308386/ntbt", source="Orphanet:308386"} +xref: ICD10CM:E72.1 {source="Orphanet:308386", source="Orphanet:308386/attributed", source="Orphanet:308386/ntbt"} xref: MESH:C565372 {source="MONDO:equivalentTo"} -xref: OMIM:252150 {source="MONDO:equivalentTo", source="ORDO:308386/e", source="DOID:0111164", source="Orphanet:308386"} +xref: OMIM:252150 {source="MONDO:equivalentTo", source="DOID:0111164", source="Orphanet:308386", source="Orphanet:308386/e"} xref: Orphanet:308386 {source="OMIM:252150", source="MONDO:equivalentTo", source="DOID:0111164"} xref: Orphanet:833 {source="MONDO:subClassOf", source="OMIM:252150"} xref: Orphanet:99732 {source="MONDO:subClassOf", source="OMIM:252150"} @@ -182911,9 +182877,9 @@ synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MOND synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1, OMIM:252160] synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" EXACT CLINGEN_PREFERRED [] xref: DOID:0111163 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="Orphanet:308393", source="ORDO:308393/attributed", source="ORDO:308393/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:308393/attributed", source="Orphanet:308393/ntbt", source="Orphanet:308393"} xref: MESH:C565373 {source="MONDO:equivalentTo"} -xref: OMIM:252160 {source="ORDO:308393/e", source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163"} +xref: OMIM:252160 {source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163", source="Orphanet:308393/e"} xref: Orphanet:308393 {source="OMIM:252160", source="MONDO:equivalentTo", source="DOID:0111163"} xref: Orphanet:833 {source="MONDO:subClassOf", source="OMIM:252160"} xref: Orphanet:99732 {source="MONDO:subClassOf", source="OMIM:252160"} @@ -182931,7 +182897,7 @@ synonym: "monocyte chemotactic disorder" EXACT [OMIM:252250] xref: MESH:C565371 {source="MONDO:equivalentTo"} xref: OMIM:252250 {source="MONDO:equivalentTo"} xref: UMLS:C1854982 {source="OMIM:252250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015279 {source="ORDO:1334/btnt"} ! chronic mucocutaneous candidiasis +is_a: MONDO:0015279 {source="Orphanet:1334/btnt"} ! chronic mucocutaneous candidiasis property_value: confidence "2.323076923076922" xsd:double [Term] @@ -182957,7 +182923,7 @@ xref: OMIM:252300 {source="MONDO:equivalentTo"} xref: Orphanet:582 {source="MONDO:subClassOf", source="OMIM:252300"} xref: UMLS:C1854965 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931140 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:252300"} -is_a: MONDO:0018938 {source="ORDO:582/btnt"} ! mucopolysaccharidosis type 4 +is_a: MONDO:0018938 {source="Orphanet:582/btnt"} ! mucopolysaccharidosis type 4 property_value: confidence "3.3209876543209873" xsd:double [Term] @@ -182967,10 +182933,10 @@ def: "Peripheral motor neuropathy-dysautonomia syndrome is characterised by dist subset: ordo_disease {source="Orphanet:2400"} synonym: "Lisker-Garcia-Ramos syndrome" EXACT [Orphanet:2400] synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [OMIM:252320] -xref: MESH:C536988 {source="ORDO:2400/e", source="Orphanet:2400", source="MONDO:equivalentTo"} -xref: OMIM:252320 {source="ORDO:2400/e", source="Orphanet:2400", source="MONDO:equivalentTo"} +xref: MESH:C536988 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"} +xref: OMIM:252320 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"} xref: Orphanet:2400 {source="MONDO:equivalentTo", source="OMIM:252320"} -xref: UMLS:C1854961 {source="ORDO:2400/e", source="NCBI:mim2gene_medline", source="Orphanet:2400", source="MONDO:equivalentTo", source="OMIM:252320"} +xref: UMLS:C1854961 {source="NCBI:mim2gene_medline", source="Orphanet:2400", source="MONDO:equivalentTo", source="OMIM:252320", source="Orphanet:2400/e"} is_a: MONDO:0015914 {source="Orphanet:2400"} ! primary orthostatic hypotension is_a: MONDO:0019117 {source="Orphanet:2400", source="Orphanet:2400/inferred"} ! genetic nervous system disorder property_value: confidence "3.7222222222222223" xsd:double @@ -183013,15 +182979,15 @@ synonym: "N-acetylglucosamine 1-phosphotransferase deficiency" EXACT [Orphanet:5 synonym: "N-acetylglucosamine 1phosphotransferase deficiency" RELATED [GARD:0006749] xref: DOID:0080070 {source="MONDO:equivalentTo"} xref: GARD:0006749 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.0 {source="Orphanet:576", source="ORDO:576/inclusion", source="ORDO:576/ntbt"} -xref: MESH:C538602 {source="Orphanet:576", source="MONDO:equivalentTo", source="ORDO:576/e"} +xref: ICD10CM:E77.0 {source="Orphanet:576", source="Orphanet:576/ntbt", source="Orphanet:576/inclusion"} +xref: MESH:C538602 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e"} xref: NCIT:C61270 {source="MONDO:equivalentTo"} -xref: OMIM:252500 {source="Orphanet:576", source="MONDO:equivalentTo", source="ORDO:576/e", source="DOID:0080070"} +xref: OMIM:252500 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e", source="DOID:0080070"} xref: Orphanet:576 {source="MONDO:equivalentTo", source="OMIM:252500"} xref: SCTID:70199000 {source="MONDO:equivalentTo"} -xref: UMLS:C0020725 {source="Orphanet:576", source="MONDO:equivalentTo", source="NCIT:C61270", source="OMIM:252500", source="ORDO:576/e"} +xref: UMLS:C0020725 {source="Orphanet:576", source="MONDO:equivalentTo", source="NCIT:C61270", source="Orphanet:576/e", source="OMIM:252500"} xref: UMLS:C2673377 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252500"} -xref: UMLS:C2931894 {source="Orphanet:576", source="MONDO:notFoundInDiseaseSubset", source="ORDO:576/e"} +xref: UMLS:C2931894 {source="Orphanet:576", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:576/e"} is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019248 {source="DC-OMIM:252500", source="MESH:C538602", source="NCIT:C61270", source="Orphanet:576", source="linkedlifedata"} ! mucolipidosis relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome @@ -183051,10 +183017,10 @@ synonym: "mucolipidosis III, complementation group C" RELATED [OMIM:252605] synonym: "mucolipidosis III, Iranian variant form" RELATED [OMIM:252605] synonym: "mucolipidosis III, variant form" RELATED [OMIM:252605] synonym: "mucolipidosis type 3 gamma" EXACT [Orphanet:423470] -xref: ICD10CM:E77.0 {source="ORDO:423470/attributed", source="ORDO:423470/ntbt", source="Orphanet:423470"} +xref: ICD10CM:E77.0 {source="Orphanet:423470/attributed", source="Orphanet:423470/ntbt", source="Orphanet:423470"} xref: MESH:C565367 {source="MONDO:equivalentTo"} xref: NCIT:C129978 {source="MONDO:equivalentTo"} -xref: OMIM:252605 {source="MONDO:equivalentTo", source="ORDO:423470/e", source="Orphanet:423470"} +xref: OMIM:252605 {source="Orphanet:423470/e", source="MONDO:equivalentTo", source="Orphanet:423470"} xref: Orphanet:423470 {source="OMIM:252605", source="MONDO:equivalentTo"} xref: Orphanet:577 {source="MONDO:subClassOf", source="OMIM:252605"} xref: UMLS:C1854896 {source="OMIM:252605", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129978", source="Orphanet:423470"} @@ -183085,12 +183051,12 @@ xref: GTR:AN1124590 {source="UMLS:CN716584"} xref: GTR:AN1125032 {source="UMLS:CN716584"} xref: GTR:AN1125033 {source="UMLS:CN716584"} xref: GTR:AN1148743 {source="UMLS:CN716584"} -xref: ICD10CM:E75.1 {source="Orphanet:578", source="ORDO:578/inclusion", source="ORDO:578/ntbt"} +xref: ICD10CM:E75.1 {source="Orphanet:578/ntbt", source="Orphanet:578", source="Orphanet:578/inclusion"} xref: NCIT:C84896 {source="MONDO:equivalentTo"} -xref: OMIM:252650 {source="Orphanet:578", source="MONDO:equivalentTo", source="GARD:0000094", source="ORDO:578/e"} +xref: OMIM:252650 {source="Orphanet:578", source="MONDO:equivalentTo", source="Orphanet:578/e", source="GARD:0000094"} xref: Orphanet:578 {source="MONDO:equivalentTo", source="OMIM:252650", source="GARD:0000094"} xref: SCTID:111384001 {source="MONDO:equivalentTo"} -xref: UMLS:C0238286 {source="Orphanet:578", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252650", source="GARD:0000094", source="NCIT:C84896", source="ORDO:578/e"} +xref: UMLS:C0238286 {source="Orphanet:578", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252650", source="Orphanet:578/e", source="GARD:0000094", source="NCIT:C84896"} xref: UMLS:CN716584 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="NCIT:C84896/inferred", source="Orphanet:578", source="Orphanet:578/inferred", source="PMID:21502308", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0005328 ! eye disorder @@ -183140,9 +183106,9 @@ synonym: "sulfamidase deficiency" RELATED [OMIM:252900] xref: DOID:0111395 {source="MONDO:equivalentTo"} xref: GARD:0002649 {source="MONDO:equivalentTo"} xref: GARD:0007071 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="ORDO:79269/attributed", source="ORDO:79269/ntbt", source="Orphanet:79269"} +xref: ICD10CM:E76.2 {source="Orphanet:79269/attributed", source="Orphanet:79269/ntbt", source="Orphanet:79269"} xref: NCIT:C84897 {source="MONDO:equivalentTo"} -xref: OMIM:252900 {source="MONDO:equivalentTo", source="ORDO:79269/e", source="Orphanet:79269"} +xref: OMIM:252900 {source="Orphanet:79269/e", source="MONDO:equivalentTo", source="Orphanet:79269"} xref: Orphanet:581 {source="MONDO:subClassOf", source="OMIM:252900"} xref: Orphanet:79269 {source="OMIM:252900", source="MONDO:equivalentTo"} xref: SCTID:41572006 {source="MONDO:equivalentTo"} @@ -183179,9 +183145,9 @@ synonym: "Sanfilippo B" EXACT [NCIT:C84898] synonym: "Sanfilippo syndrome B" RELATED [OMIM:252920] xref: DOID:0111394 {source="MONDO:equivalentTo"} xref: GARD:0007072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="Orphanet:79270", source="ORDO:79270/attributed", source="ORDO:79270/ntbt"} +xref: ICD10CM:E76.2 {source="Orphanet:79270/attributed", source="Orphanet:79270/ntbt", source="Orphanet:79270"} xref: NCIT:C84898 {source="MONDO:equivalentTo"} -xref: OMIM:252920 {source="ORDO:79270/e", source="Orphanet:79270", source="MONDO:equivalentTo"} +xref: OMIM:252920 {source="Orphanet:79270", source="MONDO:equivalentTo", source="Orphanet:79270/e"} xref: Orphanet:581 {source="MONDO:subClassOf", source="OMIM:252920"} xref: Orphanet:79270 {source="MONDO:equivalentTo", source="OMIM:252920"} xref: SCTID:59990008 {source="MONDO:equivalentTo"} @@ -183216,9 +183182,9 @@ synonym: "Sanfilippo syndrome C" RELATED [OMIM:252930] synonym: "Sanfilippo syndrome type C" EXACT CLINGEN_PREFERRED [] xref: DOID:0111393 {source="MONDO:equivalentTo"} xref: GARD:0007073 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="Orphanet:79271", source="ORDO:79271/attributed", source="ORDO:79271/ntbt"} +xref: ICD10CM:E76.2 {source="Orphanet:79271", source="Orphanet:79271/attributed", source="Orphanet:79271/ntbt"} xref: NCIT:C84899 {source="MONDO:equivalentTo"} -xref: OMIM:252930 {source="ORDO:79271/e", source="MONDO:equivalentTo", source="Orphanet:79271"} +xref: OMIM:252930 {source="MONDO:equivalentTo", source="Orphanet:79271", source="Orphanet:79271/e"} xref: Orphanet:581 {source="MONDO:subClassOf", source="OMIM:252930"} xref: Orphanet:79271 {source="MONDO:equivalentTo", source="OMIM:252930"} xref: SCTID:75238000 {source="MONDO:equivalentTo"} @@ -183252,9 +183218,9 @@ synonym: "Sanfilippo syndrome D" RELATED [OMIM:252940] synonym: "Sanfilippo syndrome type D" EXACT CLINGEN_PREFERRED [] xref: DOID:0111402 {source="MONDO:equivalentTo"} xref: GARD:0007074 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="ORDO:79272/attributed", source="ORDO:79272/ntbt", source="Orphanet:79272"} +xref: ICD10CM:E76.2 {source="Orphanet:79272", source="Orphanet:79272/attributed", source="Orphanet:79272/ntbt"} xref: NCIT:C84900 {source="MONDO:equivalentTo"} -xref: OMIM:252940 {source="ORDO:79272/e", source="MONDO:equivalentTo", source="Orphanet:79272"} +xref: OMIM:252940 {source="MONDO:equivalentTo", source="Orphanet:79272", source="Orphanet:79272/e"} xref: Orphanet:581 {source="MONDO:subClassOf", source="OMIM:252940"} xref: Orphanet:79272 {source="MONDO:equivalentTo", source="OMIM:252940"} xref: SCTID:15892005 {source="MONDO:equivalentTo"} @@ -183286,9 +183252,9 @@ synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical, OMIM:253000] synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet:309297] xref: DOID:0111391 {source="MONDO:equivalentTo"} xref: GARD:0003785 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="ORDO:309297/attributed", source="ORDO:309297/ntbt", source="Orphanet:309297"} +xref: ICD10CM:E76.2 {source="Orphanet:309297", source="Orphanet:309297/attributed", source="Orphanet:309297/ntbt"} xref: NCIT:C84901 {source="MONDO:equivalentTo"} -xref: OMIM:253000 {source="ORDO:309297/e", source="MONDO:equivalentTo", source="Orphanet:309297"} +xref: OMIM:253000 {source="MONDO:equivalentTo", source="Orphanet:309297", source="Orphanet:309297/e"} xref: Orphanet:309297 {source="MONDO:equivalentTo", source="OMIM:253000"} xref: Orphanet:582 {source="MONDO:subClassOf", source="OMIM:253000"} xref: SCTID:7259005 {source="MONDO:equivalentTo"} @@ -183320,13 +183286,13 @@ synonym: "mucopolysaccharidosis, type 4B" RELATED [OMIM:253010] synonym: "mucopolysaccharidosis, type IVB" RELATED [OMIM:253010] xref: DOID:0111392 {source="MONDO:equivalentTo"} xref: GARD:0003786 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="ORDO:309310/attributed", source="ORDO:309310/ntbt", source="Orphanet:309310"} +xref: ICD10CM:E76.2 {source="Orphanet:309310", source="Orphanet:309310/attributed", source="Orphanet:309310/ntbt"} xref: NCIT:C84902 {source="MONDO:equivalentTo"} -xref: OMIM:253010 {source="MONDO:equivalentTo", source="ORDO:309310/e", source="Orphanet:309310"} +xref: OMIM:253010 {source="MONDO:equivalentTo", source="Orphanet:309310", source="Orphanet:309310/e"} xref: Orphanet:309310 {source="MONDO:equivalentTo", source="OMIM:253010"} xref: Orphanet:582 {source="MONDO:subClassOf", source="OMIM:253010"} xref: SCTID:238044004 {source="MONDO:equivalentTo"} -xref: UMLS:C0086652 {source="NCIT:C84902", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:309310/e", source="OMIM:253010", source="Orphanet:309310"} +xref: UMLS:C0086652 {source="NCIT:C84902", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253010", source="Orphanet:309310", source="Orphanet:309310/e"} is_a: MONDO:0018938 {source="NCIT:C84902", source="Orphanet:309310"} ! mucopolysaccharidosis type 4 intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004565 ! beta-galactosidase activity @@ -183361,16 +183327,16 @@ synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [Orphanet:583] synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200] xref: DOID:12800 {source="MONDO:equivalentTo"} xref: GARD:0007095 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="ORDO:583/inclusion", source="ORDO:583/ntbt", source="Orphanet:583"} -xref: MedDRA:10056892 {source="ORDO:583/e", source="Orphanet:583"} -xref: MESH:D009087 {source="DOID:12800", source="MONDO:equivalentTo", source="ORDO:583/e", source="Orphanet:583"} +xref: ICD10CM:E76.2 {source="Orphanet:583/inclusion", source="Orphanet:583/ntbt", source="Orphanet:583"} +xref: MedDRA:10056892 {source="Orphanet:583/e", source="Orphanet:583"} +xref: MESH:D009087 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"} xref: NCIT:C61264 {source="DOID:12800", source="MONDO:equivalentTo"} -xref: OMIM:253200 {source="DOID:12800", source="MONDO:equivalentTo", source="ORDO:583/e", source="Orphanet:583"} +xref: OMIM:253200 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"} xref: Orphanet:583 {source="MONDO:equivalentTo", source="OMIM:253200"} xref: SCTID:190936000 {source="DOID:12800"} xref: SCTID:52677002 {source="DOID:12800"} xref: SCTID:69463008 {source="DOID:12800", source="MONDO:equivalentTo"} -xref: UMLS:C0026709 {source="DOID:12800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253200", source="ORDO:583/e", source="NCIT:C61264", source="Orphanet:583"} +xref: UMLS:C0026709 {source="DOID:12800", source="Orphanet:583/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253200", source="NCIT:C61264", source="Orphanet:583"} is_a: MONDO:0002254 {source="NCIT:C61264"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder @@ -183409,16 +183375,16 @@ synonym: "Sly disease" EXACT [Orphanet:584] synonym: "Sly syndrome" EXACT [OMIM:253220] xref: DOID:12803 {source="MONDO:equivalentTo"} xref: GARD:0007096 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.2 {source="ORDO:584/inclusion", source="ORDO:584/ntbt", source="Orphanet:584"} +xref: ICD10CM:E76.2 {source="Orphanet:584/ntbt", source="Orphanet:584/inclusion", source="Orphanet:584"} xref: ICD10CM:E76.29 {source="DOID:12803"} -xref: MedDRA:10056893 {source="ORDO:584/e", source="Orphanet:584"} -xref: MESH:D016538 {source="DOID:12803", source="MONDO:equivalentTo", source="ORDO:584/e", source="Orphanet:584"} +xref: MedDRA:10056893 {source="Orphanet:584/e", source="Orphanet:584"} +xref: MESH:D016538 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"} xref: NCIT:C84903 {source="DOID:12803", source="MONDO:equivalentTo"} -xref: OMIM:253220 {source="DOID:12803", source="MONDO:equivalentTo", source="ORDO:584/e", source="Orphanet:584"} +xref: OMIM:253220 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"} xref: Orphanet:584 {source="MONDO:equivalentTo", source="OMIM:253220"} xref: SCTID:124470009 {source="DOID:12803"} xref: SCTID:43916004 {source="DOID:12803", source="MONDO:equivalentTo"} -xref: UMLS:C0085132 {source="DOID:12803", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253220", source="NCIT:C84903", source="ORDO:584/e", source="Orphanet:584"} +xref: UMLS:C0085132 {source="Orphanet:584/e", source="DOID:12803", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253220", source="NCIT:C84903", source="Orphanet:584"} is_a: MONDO:0002561 {source="DOID:12803/inferred", source="MESH:D016538/inferred", source="NCIT:C84903/inferred", source="Orphanet:584/inferred", source="PMID:21723623", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Redundant", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584", source="linkedlifedata"} ! mucopolysaccharidosis @@ -183455,16 +183421,16 @@ synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436] synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576] xref: DOID:0050436 {source="MONDO:equivalentTo"} xref: GARD:0000095 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:2576", source="ORDO:2576/attributed", source="ORDO:2576/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:2576/attributed", source="Orphanet:2576/ntbt", source="Orphanet:2576"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538604 {source="ORDO:2576/e", source="Orphanet:2576"} -xref: MESH:D050336 {source="ORDO:2576/e", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo"} +xref: MESH:C538604 {source="Orphanet:2576", source="Orphanet:2576/e"} +xref: MESH:D050336 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"} xref: NCIT:C84906 {source="DOID:0050436", source="MONDO:equivalentTo"} -xref: OMIM:253250 {source="ORDO:2576/e", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo"} +xref: OMIM:253250 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"} xref: Orphanet:2576 {source="OMIM:253250", source="MONDO:equivalentTo"} xref: SCTID:81604003 {source="DOID:0050436", source="MONDO:equivalentTo"} -xref: UMLS:C0524582 {source="ORDO:2576/e", source="NCBI:mim2gene_medline", source="OMIM:253250", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="NCIT:C84906"} -xref: UMLS:C2931895 {source="ORDO:2576/e", source="Orphanet:2576", source="MONDO:equivalentTo"} +xref: UMLS:C0524582 {source="NCBI:mim2gene_medline", source="OMIM:253250", source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="NCIT:C84906", source="Orphanet:2576/e"} +xref: UMLS:C2931895 {source="Orphanet:2576", source="MONDO:equivalentTo", source="Orphanet:2576/e"} is_a: MONDO:0002254 {source="NCIT:C84906"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050436", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0021147 {source="Orphanet:2576", source="Orphanet:2576/inferred"} ! disorder of development or morphogenesis @@ -183493,16 +183459,16 @@ synonym: "multiple carboxylase deficiency, late-onset" RELATED [OMIM:253260] xref: DOID:856 {source="MONDO:equivalentTo"} xref: GARD:0000894 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:D81.810 {source="DOID:856", source="MONDO:equivalentTo"} -xref: ICD10CM:E53.8 {source="ORDO:79241/attributed", source="ORDO:79241/ntbt", source="Orphanet:79241"} +xref: ICD10CM:E53.8 {source="Orphanet:79241", source="Orphanet:79241/attributed", source="Orphanet:79241/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071434 {source="ORDO:79241/e", source="Orphanet:79241"} -xref: MESH:D028921 {source="DOID:856", source="MONDO:equivalentTo", source="ORDO:79241/e", source="Orphanet:79241"} +xref: MedDRA:10071434 {source="Orphanet:79241", source="Orphanet:79241/e"} +xref: MESH:D028921 {source="DOID:856", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e"} xref: NCIT:C84598 {source="DOID:856", source="MONDO:equivalentTo"} -xref: OMIM:253260 {source="DOID:856", source="MONDO:equivalentTo", source="ORDO:79241/e", source="Orphanet:79241"} +xref: OMIM:253260 {source="DOID:856", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e"} xref: Orphanet:79241 {source="OMIM:253260", source="MONDO:equivalentTo"} xref: SCTID:124513002 {source="DOID:856"} xref: SCTID:8808004 {source="DOID:856", source="MONDO:equivalentTo"} -xref: UMLS:C0220754 {source="OMIM:253260", source="DOID:856", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79241/e", source="Orphanet:79241", source="NCIT:C84598"} +xref: UMLS:C0220754 {source="OMIM:253260", source="DOID:856", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e", source="NCIT:C84598"} xref: UMLS:C1854698 {source="OMIM:253260", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79241"} xref: UMLS:CN043572 {source="MONDO:equivalentTo"} is_a: MONDO:0015454 {source="DOID:856", source="MESH:D028921", source="Orphanet:79241"} ! multiple carboxylase deficiency @@ -183535,18 +183501,18 @@ synonym: "neonatal multiple carboxylase deficiency" EXACT [NCIT:C98842, Orphanet xref: DOID:859 {source="MONDO:equivalentTo"} xref: GARD:0002721 {source="MONDO:equivalentTo"} xref: ICD10CM:D81.818 {source="DOID:859"} -xref: ICD10CM:E53.8 {source="ORDO:79242/attributed", source="ORDO:79242/ntbt", source="Orphanet:79242"} +xref: ICD10CM:E53.8 {source="Orphanet:79242/attributed", source="Orphanet:79242/ntbt", source="Orphanet:79242"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D028922 {source="DOID:859", source="MONDO:equivalentTo", source="ORDO:79242/e", source="Orphanet:79242"} +xref: MESH:D028922 {source="Orphanet:79242/e", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242"} xref: NCIT:C98842 {source="DOID:859", source="MONDO:equivalentTo"} xref: NCIT:C99247 {source="DOID:859"} -xref: OMIM:253270 {source="DOID:859", source="MONDO:equivalentTo", source="ORDO:79242/e", source="Orphanet:79242"} +xref: OMIM:253270 {source="Orphanet:79242/e", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242"} xref: Orphanet:79242 {source="OMIM:253270", source="MONDO:equivalentTo"} xref: SCTID:15307001 {source="DOID:859", source="MONDO:equivalentTo"} xref: SCTID:237956003 {source="DOID:859"} xref: SCTID:360367001 {source="DOID:859"} xref: SCTID:360369003 {source="DOID:859", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C0268581 {source="OMIM:253270", source="NCBI:mim2gene_medline", source="DOID:859", source="MONDO:equivalentTo", source="ORDO:79242/e", source="Orphanet:79242", source="NCIT:C98842"} +xref: UMLS:C0268581 {source="Orphanet:79242/e", source="OMIM:253270", source="NCBI:mim2gene_medline", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242", source="NCIT:C98842"} is_a: MONDO:0015454 {source="DOID:859", source="MESH:D028922", source="Orphanet:79242"} ! multiple carboxylase deficiency is_a: MONDO:0019052 {source="DOID:859/inferred", source="MESH:D028922/inferred", source="MONDO:Redundant", source="NCIT:C98842", source="Orphanet:79242/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism is_a: MONDO:0019242 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn disorder of branched-chain amino acid metabolism @@ -183572,7 +183538,7 @@ xref: Orphanet:588 {source="MONDO:subClassOf", source="OMIM:253280"} xref: Orphanet:899 {source="MONDO:subClassOf", source="OMIM:253280", source="MONDO:relatedTo"} xref: UMLS:C0457133 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3151519 {source="OMIM:253280", source="MONDO:equivalentTo", source="NCIT:C126740"} -is_a: MONDO:0000171 {source="OMIM:253280", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="OMIM:253280", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126740", source="indirect"} ! muscular dystrophy is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 @@ -183593,14 +183559,14 @@ synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical, OMIM synonym: "pterygium syndrome multiple lethal type" RELATED [GARD:0003834] synonym: "pterygium syndrome, multiple, lethal type" RELATED [OMIM:253290] xref: GARD:0003834 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.8 {source="Orphanet:33108", source="ORDO:33108/attributed", source="ORDO:33108/ntbt"} +xref: ICD10CM:Q79.8 {source="Orphanet:33108/attributed", source="Orphanet:33108/ntbt", source="Orphanet:33108"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537378 {source="ORDO:33108/e", source="Orphanet:33108"} +xref: MESH:C537378 {source="Orphanet:33108", source="Orphanet:33108/e"} xref: NCIT:C101038 {source="MONDO:equivalentTo"} -xref: OMIM:253290 {source="ORDO:33108/e", source="Orphanet:33108", source="GARD:0003834", source="MONDO:equivalentTo"} +xref: OMIM:253290 {source="Orphanet:33108", source="GARD:0003834", source="MONDO:equivalentTo", source="Orphanet:33108/e"} xref: Orphanet:33108 {source="OMIM:253290", source="GARD:0003834", source="MONDO:equivalentTo"} xref: SCTID:60192008 {source="MONDO:equivalentTo"} -xref: UMLS:C1854678 {source="OMIM:253290", source="ORDO:33108/e", source="Orphanet:33108", source="NCBI:mim2gene_medline", source="GARD:0003834", source="MONDO:equivalentTo", source="NCIT:C101038"} +xref: UMLS:C1854678 {source="OMIM:253290", source="Orphanet:33108", source="NCBI:mim2gene_medline", source="GARD:0003834", source="MONDO:equivalentTo", source="NCIT:C101038", source="Orphanet:33108/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C101038", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:33108"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017415 {source="DC-OMIM:253290", source="OMIM:253290", source="Orphanet:33108", source="linkedlifedata"} ! multiple pterygium syndrome @@ -183638,14 +183604,14 @@ synonym: "Werdnig-Hoffmann disease" EXACT [OMIM:253300, Orphanet:83330] xref: DOID:0060160 {source="MONDO:equivalentTo"} xref: DOID:13137 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0007883 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G12.0 {source="Orphanet:83330", source="ORDO:83330/specific", source="DOID:0060160", source="DOID:13137", source="ORDO:83330/e"} +xref: ICD10CM:G12.0 {source="Orphanet:83330", source="Orphanet:83330/e", source="DOID:0060160", source="DOID:13137", source="Orphanet:83330/specific"} xref: ICD9:335.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:0060160", source="DOID:13137"} xref: ICD9:335.11 {source="MONDO:superClassOf", source="DOID:0060160"} xref: MESH:D014897 {source="DOID:0060160", source="DOID:13137"} xref: NCIT:C118847 {source="MONDO:superClassOf", source="DOID:0060160"} xref: NCIT:C85076 {source="DOID:0060160"} xref: NCIT:C98670 {source="MONDO:equivalentTo", source="DOID:0060160", source="DOID:13137"} -xref: OMIM:253300 {source="Orphanet:83330", source="MONDO:equivalentTo", source="DOID:13137", source="ORDO:83330/e"} +xref: OMIM:253300 {source="Orphanet:83330", source="MONDO:equivalentTo", source="Orphanet:83330/e", source="DOID:13137"} xref: Orphanet:70 {source="MONDO:subClassOf", source="OMIM:253300"} xref: Orphanet:83330 {source="MONDO:equivalentTo", source="OMIM:253300"} xref: SCTID:128212001 {source="MONDO:superClassOf", source="DOID:0060160"} @@ -183679,12 +183645,12 @@ synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MO synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486] xref: DOID:0060559 {source="MONDO:equivalentTo"} xref: GARD:0003227 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q68.8 {source="Orphanet:1486", source="ORDO:1486/attributed", source="ORDO:1486/ntbt"} -xref: MESH:C537194 {source="Orphanet:1486", source="ORDO:1486/e", source="MONDO:equivalentTo", source="DOID:0060559"} -xref: OMIM:253310 {source="Orphanet:1486", source="ORDO:1486/e", source="MONDO:equivalentTo", source="DOID:0060559"} +xref: ICD10CM:Q68.8 {source="Orphanet:1486", source="Orphanet:1486/attributed", source="Orphanet:1486/ntbt"} +xref: MESH:C537194 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"} +xref: OMIM:253310 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"} xref: Orphanet:1486 {source="MONDO:equivalentTo", source="OMIM:253310", source="DOID:0060559"} xref: SCTID:715418007 {source="MONDO:equivalentTo"} -xref: UMLS:C1854664 {source="Orphanet:1486", source="ORDO:1486/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253310", source="DOID:0060559"} +xref: UMLS:C1854664 {source="Orphanet:1486", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253310", source="Orphanet:1486/e", source="DOID:0060559"} is_a: MONDO:0015161 {source="Orphanet:1486", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015222 {source="MONDO:Redundant", source="Orphanet:1486"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015929 {source="Orphanet:1486"} ! thoracic malformation @@ -183708,9 +183674,9 @@ synonym: "Chudley-Rozdilsky syndrome" EXACT [Orphanet:3068] synonym: "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" RELATED [OMIM:253320] synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED DEPRECATED [OMIM:253320] xref: GARD:0001358 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3068", source="ORDO:3068/attributed", source="ORDO:3068/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3068", source="Orphanet:3068/attributed", source="Orphanet:3068/ntbt"} xref: MESH:C535458 {source="MONDO:equivalentTo"} -xref: OMIM:253320 {source="Orphanet:3068", source="ORDO:3068/e", source="MONDO:equivalentTo"} +xref: OMIM:253320 {source="Orphanet:3068", source="MONDO:equivalentTo", source="Orphanet:3068/e"} xref: Orphanet:3068 {source="MONDO:equivalentTo", source="OMIM:253320"} xref: SCTID:764959000 {source="MONDO:equivalentTo"} xref: UMLS:C1854663 {source="Orphanet:3068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:253320"} @@ -183751,12 +183717,12 @@ synonym: "spinal muscular atrophy-3" EXACT [OMIM:253400, OMIM:genemap2] synonym: "type III spinal muscular atrophy" EXACT [DOID:12376] xref: DOID:12376 {source="MONDO:equivalentTo"} xref: GARD:0000198 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.1 {source="ORDO:83419/inclusion", source="ORDO:83419/ntbt", source="Orphanet:83419"} +xref: ICD10CM:G12.1 {source="Orphanet:83419/ntbt", source="Orphanet:83419/inclusion", source="Orphanet:83419"} xref: ICD9:335.11 {source="MONDO:equivalentTo", source="i2s", source="DOID:12376"} xref: MESH:D014897 {source="DOID:12376"} xref: NCIT:C118847 {source="MONDO:equivalentTo", source="DOID:12376"} xref: NCIT:C85076 {source="DOID:12376"} -xref: OMIM:253400 {source="GARD:0000198", source="MONDO:equivalentTo", source="ORDO:83419/e", source="Orphanet:83419", source="DOID:12376"} +xref: OMIM:253400 {source="GARD:0000198", source="Orphanet:83419/e", source="MONDO:equivalentTo", source="Orphanet:83419", source="DOID:12376"} xref: Orphanet:70 {source="MONDO:subClassOf", source="OMIM:253400"} xref: Orphanet:83419 {source="GARD:0000198", source="MONDO:equivalentTo", source="OMIM:253400"} xref: SCTID:54280009 {source="MONDO:equivalentTo", source="DOID:12376"} @@ -183794,10 +183760,10 @@ synonym: "spinal muscular atrophy, type II" EXACT [OMIM:253550] synonym: "spinal muscular atrophy-2" EXACT [OMIM:253550, OMIM:genemap2] xref: DOID:0050530 {source="MONDO:equivalentTo"} xref: GARD:0004945 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G12.1 {source="ORDO:83418/inclusion", source="ORDO:83418/ntbt", source="Orphanet:83418"} +xref: ICD10CM:G12.1 {source="Orphanet:83418/inclusion", source="Orphanet:83418/ntbt", source="Orphanet:83418"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536879 {source="MONDO:equivalentTo"} -xref: OMIM:253550 {source="DOID:0050530", source="MONDO:equivalentTo", source="ORDO:83418/e", source="Orphanet:83418"} +xref: OMIM:253550 {source="DOID:0050530", source="Orphanet:83418/e", source="MONDO:equivalentTo", source="Orphanet:83418"} xref: Orphanet:70 {source="MONDO:subClassOf", source="OMIM:253550"} xref: Orphanet:83418 {source="MONDO:equivalentTo", source="OMIM:253550"} xref: SCTID:128212001 {source="MONDO:equivalentTo"} @@ -183844,14 +183810,14 @@ synonym: "primary calpainopathy" EXACT [DOID:0110275, Orphanet:267] xref: DOID:0110275 {source="MONDO:equivalentTo"} xref: GARD:0001057 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0003845 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110275", source="ORDO:267/attributed", source="ORDO:267/ntbt", source="Orphanet:267"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:267/attributed", source="Orphanet:267/ntbt", source="DOID:0110275", source="Orphanet:267"} xref: MESH:C535895 {source="MONDO:equivalentTo"} xref: NCIT:C142079 {source="MONDO:equivalentTo"} -xref: OMIM:253600 {source="MONDO:equivalentTo", source="DOID:0110275", source="ORDO:267/e", source="Orphanet:267"} +xref: OMIM:253600 {source="Orphanet:267/e", source="MONDO:equivalentTo", source="DOID:0110275", source="Orphanet:267"} xref: Orphanet:267 {source="MONDO:equivalentTo", source="DOID:0110275", source="OMIM:253600"} xref: SCTID:715341003 {source="MONDO:equivalentTo"} xref: UMLS:C1299884 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:253600"} -xref: UMLS:C1869123 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:253600", source="ORDO:267/e", source="Orphanet:267"} +xref: UMLS:C1869123 {source="Orphanet:267/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:253600", source="Orphanet:267"} is_a: MONDO:0015152 {source="DOID:0110275", source="MONDO:Redundant", source="OMIM:253600", source="Orphanet:267"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016152 {source="Orphanet:267"} ! qualitative or quantitative defects of calpain is_a: MONDO:0016971 {source="DOID:0110275/inferred", source="MESH:C535895", source="MONDO:Redundant", source="NCIT:C142079", source="Orphanet:267/inferred"} ! limb-girdle muscular dystrophy @@ -183879,10 +183845,10 @@ synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical, OMIM synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [OMIM:253601] xref: DOID:0110276 {source="MONDO:equivalentTo"} xref: GARD:0008574 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:268", source="ORDO:268/inclusion", source="DOID:0110276", source="ORDO:268/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:268", source="Orphanet:268/ntbt", source="Orphanet:268/inclusion", source="DOID:0110276"} xref: MESH:C535899 {source="MONDO:equivalentTo"} xref: NCIT:C142080 {source="MONDO:equivalentTo"} -xref: OMIM:253601 {source="Orphanet:268", source="MONDO:equivalentTo", source="ORDO:268/e", source="DOID:0110276"} +xref: OMIM:253601 {source="Orphanet:268", source="MONDO:equivalentTo", source="Orphanet:268/e", source="DOID:0110276"} xref: Orphanet:268 {source="MONDO:equivalentTo", source="DOID:0110276", source="OMIM:253601"} xref: SCTID:718179003 {source="MONDO:equivalentTo"} xref: UMLS:C1850889 {source="Orphanet:268", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:253601"} @@ -183924,9 +183890,9 @@ synonym: "severe childhood autosomal recessive muscular dystrophy, North African synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110277 {source="MONDO:equivalentTo"} xref: GARD:0002429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:353/inclusion", source="ORDO:353/ntbt", source="DOID:0110277", source="Orphanet:353"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:353/ntbt", source="Orphanet:353/inclusion", source="DOID:0110277", source="Orphanet:353"} xref: MESH:C535900 {source="MONDO:equivalentTo"} -xref: OMIM:253700 {source="MONDO:equivalentTo", source="ORDO:353/e", source="DOID:0110277", source="Orphanet:353"} +xref: OMIM:253700 {source="Orphanet:353/e", source="MONDO:equivalentTo", source="DOID:0110277", source="Orphanet:353"} xref: Orphanet:353 {source="MONDO:equivalentTo", source="DOID:0110277", source="OMIM:253700"} xref: UMLS:C0410173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:353", source="OMIM:253700"} is_a: MONDO:0015152 {source="DOID:0110277", source="MONDO:Redundant", source="OMIM:253700", source="Orphanet:353"} ! autosomal recessive limb-girdle muscular dystrophy @@ -183953,15 +183919,15 @@ synonym: "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye a synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" EXACT [OMIM:253800] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT [OMIM:253800] xref: DOID:0050559 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:272/attributed", source="ORDO:272/ntbt", source="Orphanet:272"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:272", source="Orphanet:272/attributed", source="Orphanet:272/ntbt"} xref: NCIT:C126741 {source="MONDO:equivalentTo"} -xref: OMIM:253800 {source="ORDO:272/ntbt", source="MONDO:equivalentTo", source="DOID:0050559", source="Orphanet:272"} +xref: OMIM:253800 {source="MONDO:equivalentTo", source="DOID:0050559", source="Orphanet:272", source="Orphanet:272/ntbt"} xref: Orphanet:272 {source="MONDO:equivalentTo", source="DOID:0050559", source="OMIM:253800"} xref: Orphanet:588 {source="MONDO:subClassOf", source="OMIM:253800"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:253800"} xref: SCTID:111502003 {source="MONDO:equivalentTo"} -xref: UMLS:C0410174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:272/e", source="Orphanet:272", source="OMIM:253800"} -is_a: MONDO:0000171 {source="OMIM:253800", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +xref: UMLS:C0410174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:272", source="OMIM:253800", source="Orphanet:272/e"} +is_a: MONDO:0000171 {source="OMIM:253800", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0020121 {source="DOID:0050559/inferred", source="NCIT:C126741", source="OMIM:253800/inferred", source="Orphanet:272/inferred", source="linkedlifedata/inferred"} ! muscular dystrophy is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN @@ -183979,9 +183945,9 @@ synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [DOID:01 synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [OMIM:253900] xref: DOID:0110631 {source="MONDO:equivalentTo"} xref: GARD:0000779 {source="MONDO:equivalentTo"} -xref: ICD10CM:M62.8 {source="Orphanet:1155", source="ORDO:1155/attributed", source="ORDO:1155/ntbt", source="DOID:0110631"} +xref: ICD10CM:M62.8 {source="Orphanet:1155/attributed", source="Orphanet:1155/ntbt", source="Orphanet:1155", source="DOID:0110631"} xref: MESH:C564985 {source="MONDO:equivalentTo"} -xref: OMIM:253900 {source="ORDO:1155/e", source="Orphanet:1155", source="MONDO:equivalentTo", source="DOID:0110631"} +xref: OMIM:253900 {source="Orphanet:1155", source="MONDO:equivalentTo", source="Orphanet:1155/e", source="DOID:0110631"} xref: Orphanet:1155 {source="OMIM:253900", source="MONDO:equivalentObsolete", source="DOID:0110631"} xref: UMLS:C1850865 {source="OMIM:253900", source="Orphanet:1155", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:1155"} ! arthrogryposis multiplex congenita @@ -184002,10 +183968,10 @@ synonym: "muscular dystrophy, congenital, infantile with cataract and hypogonadi synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [OMIM:254000] xref: GARD:0000835 {source="MONDO:equivalentTo"} xref: GARD:0003842 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="ORDO:1875/e"} +xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="Orphanet:1875/e"} xref: Orphanet:1875 {source="MONDO:equivalentTo", source="OMIM:254000"} -xref: UMLS:C1850864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1875", source="OMIM:254000", source="ORDO:1875/e"} -xref: UMLS:C2931578 {source="MONDO:equivalentTo", source="Orphanet:1875", source="ORDO:1875/e", source="GARD:0000835"} +xref: UMLS:C1850864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1875", source="OMIM:254000", source="Orphanet:1875/e"} +xref: UMLS:C2931578 {source="MONDO:equivalentTo", source="Orphanet:1875", source="GARD:0000835", source="Orphanet:1875/e"} is_a: MONDO:0019950 {source="Orphanet:1875"} ! congenital muscular dystrophy relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -184058,10 +184024,10 @@ synonym: "sarcotubular myopathy" EXACT [DOID:0110282] synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110282 {source="MONDO:equivalentTo"} xref: GARD:0003844 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:1878/inclusion", source="ORDO:1878/ntbt", source="DOID:0110282", source="Orphanet:1878"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110282", source="Orphanet:1878/inclusion", source="Orphanet:1878/ntbt", source="Orphanet:1878"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535897 {source="MONDO:equivalentTo"} -xref: OMIM:254110 {source="DOID:0110282", source="MONDO:equivalentTo", source="ORDO:1878/e", source="Orphanet:1878"} +xref: OMIM:254110 {source="Orphanet:1878/e", source="DOID:0110282", source="MONDO:equivalentTo", source="Orphanet:1878"} xref: Orphanet:1878 {source="DOID:0110282", source="MONDO:equivalentTo", source="OMIM:254110"} xref: SCTID:43226001 {source="MONDO:equivalentTo"} xref: UMLS:C0270968 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254110", source="Orphanet:1878"} @@ -184098,11 +184064,11 @@ synonym: "MMD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:254130] synonym: "muscular dystrophy, distal, late onset, autosomal recessive" RELATED [GARD:0009676] xref: DOID:0070198 {source="MONDO:equivalentTo"} xref: GARD:0009676 {source="DOID:0070198", source="MONDO:superClassOf"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:45448", source="ORDO:45448/attributed", source="ORDO:45448/ntbt"} -xref: MESH:C537480 {source="ORDO:45448/e", source="Orphanet:45448", source="DOID:0070198", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:45448", source="Orphanet:45448/attributed", source="Orphanet:45448/ntbt"} +xref: MESH:C537480 {source="Orphanet:45448", source="DOID:0070198", source="MONDO:equivalentTo", source="Orphanet:45448/e"} xref: NCIT:C118846 {source="MONDO:equivalentTo"} -xref: OMIM:254130 {source="ORDO:45448/e", source="Orphanet:45448", source="MONDO:superClassOf"} -xref: OMIM:613318 {source="Orphanet:45448", source="MONDO:superClassOf", source="ORDO:45448/btnt"} +xref: OMIM:254130 {source="Orphanet:45448", source="MONDO:superClassOf", source="Orphanet:45448/e"} +xref: OMIM:613318 {source="Orphanet:45448", source="Orphanet:45448/btnt", source="MONDO:superClassOf"} xref: OMIM:613319 {source="GARD:0009676", source="MONDO:directSiblingOf"} xref: OMIMPS:254130 {source="DOID:0070198", source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="DOID:0070198", source="OMIM:254130", source="MONDO:equivalentTo"} @@ -184148,21 +184114,21 @@ synonym: "myasthenia gravis" EXACT [MONDO:Lexical, NCIT:C60989, OMIM:254200] xref: DOID:437 {source="EFO:0004991", source="MONDO:equivalentTo"} xref: EFO:0004991 {source="MONDO:equivalentTo"} xref: GARD:0007122 {source="MONDO:equivalentTo"} -xref: ICD10CM:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="ORDO:589/e"} +xref: ICD10CM:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: ICD10CM:G70.00 {source="DOID:437"} xref: ICD9:358.0 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:358.00 {source="DOID:437", source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10028417 {source="Orphanet:589", source="ORDO:589/e"} -xref: MESH:D009157 {source="EFO:0004991", source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="ORDO:589/e"} +xref: MedDRA:10028417 {source="Orphanet:589", source="Orphanet:589/e"} +xref: MESH:D009157 {source="EFO:0004991", source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: NCIT:C60989 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:159400 {source="Orphanet:589", source="MONDO:superClassOf", source="ORDO:589/btnt"} -xref: OMIM:254200 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="ORDO:589/e"} -xref: OMIM:607085 {source="Orphanet:589", source="MONDO:superClassOf", source="ORDO:589/btnt"} +xref: OMIM:159400 {source="Orphanet:589/btnt", source="Orphanet:589", source="MONDO:superClassOf"} +xref: OMIM:254200 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} +xref: OMIM:607085 {source="Orphanet:589/btnt", source="Orphanet:589", source="MONDO:superClassOf"} xref: Orphanet:589 {source="MONDO:equivalentTo", source="OMIM:254200"} xref: SCTID:155092009 {source="DOID:437"} xref: SCTID:193208002 {source="DOID:437"} xref: SCTID:91637004 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo"} -xref: UMLS:C0026896 {source="DOID:437", source="Orphanet:589", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C60989", source="OMIM:254200", source="ORDO:589/e"} +xref: UMLS:C0026896 {source="DOID:437", source="Orphanet:589", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C60989", source="OMIM:254200", source="Orphanet:589/e"} xref: UMLS:C1260409 {source="DOID:437", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000590 {source="DOID:437", source="MONDO:Entailed", source="indirect"} ! autoimmune disorder of peripheral nervous system is_a: MONDO:0002977 {source="DOID:437/inferred", source="MESH:D009157", source="MONDO:Redundant", source="NCIT:C60989", source="indirect"} ! autoimmune disorder of the nervous system @@ -184227,7 +184193,7 @@ xref: Orphanet:98914 {source="MONDO:subClassOf", source="OMIM:254210", source="G xref: SCTID:230670003 {source="MONDO:equivalentTo"} xref: UMLS:C0393929 {source="NCIT:C132292", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254210", source="GARD:0009689"} is_a: MONDO:0018940 {source="DOID:0110671", source="MONDO:0009689/inferred", source="MONDO:Redundant", source="NCIT:C132292", source="OMIM:254210", source="indirect", source="linkedlifedata"} ! congenital myasthenic syndrome -is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome +is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1912 ! CHAT relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1912 {source="mim2gene_medgen"} ! CHAT @@ -184268,7 +184234,7 @@ xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:254300"} xref: SCTID:230687001 {source="MONDO:equivalentTo"} xref: UMLS:C1850792 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:254300"} is_a: MONDO:0018940 {source="DOID:0110668", source="MONDO:Redundant", source="OMIM:254300", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26594 ! DOK7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26594 {source="mim2gene_medgen"} ! DOK7 @@ -184298,14 +184264,14 @@ synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" xref: DOID:8691 {source="MONDO:equivalentTo", source="EFO:1001051"} xref: EFO:1001051 {source="MONDO:equivalentTo"} xref: GARD:0003863 {source="MONDO:equivalentTo"} -xref: ICD10CM:C84.0 {source="Orphanet:2584", source="MONDO:equivalentTo", source="DOID:8691", source="ORDO:2584/ntbt"} +xref: ICD10CM:C84.0 {source="Orphanet:2584", source="Orphanet:2584/ntbt", source="MONDO:equivalentTo", source="DOID:8691"} xref: ICD10CM:C84.00 {source="DOID:8691"} xref: ICD9:202.1 {source="DOID:8691", source="EFO:1001051"} xref: ICDO:9700/3 {source="NCIT:C3246"} xref: MedDRA:10028483 {source="EFO:1001051"} xref: MESH:D009182 {source="MONDO:equivalentTo", source="DOID:8691", source="EFO:1001051"} xref: NCIT:C3246 {source="MONDO:equivalentTo", source="DOID:8691", source="exact-label-match", source="EFO:1001051"} -xref: OMIM:254400 {source="Orphanet:2584", source="ORDO:2584/e", source="MONDO:equivalentTo", source="DOID:8691"} +xref: OMIM:254400 {source="Orphanet:2584", source="MONDO:equivalentTo", source="Orphanet:2584/e", source="DOID:8691"} xref: ONCOTREE:MYCF {source="MONDO:equivalentTo"} xref: Orphanet:2584 {source="MONDO:equivalentTo", source="OMIM:254400"} xref: SCTID:118618005 {source="MONDO:equivalentTo", source="DOID:8691"} @@ -184346,7 +184312,7 @@ synonym: "primary myelofibrosis" EXACT [DOID:4971] xref: DOID:4971 {source="MONDO:equivalentTo"} xref: EFO:0002430 {source="MONDO:equivalentTo"} xref: GARD:0008618 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D47.4 {source="DOID:4971", source="Orphanet:824", source="ORDO:824/ntbt"} +xref: ICD10CM:D47.4 {source="DOID:4971", source="Orphanet:824", source="Orphanet:824/ntbt"} xref: ICD10CM:D75.81 {source="DOID:4971"} xref: ICD9:238.76 {source="DOID:4971"} xref: ICD9:289.83 {source="DOID:4971"} @@ -184354,7 +184320,7 @@ xref: ICDO:9961/3 {source="NCIT:C2862"} xref: MESH:D055728 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"} xref: NCIT:C2862 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"} xref: NCIT:C3248 {source="DOID:4971"} -xref: OMIM:254450 {source="ORDO:824/e", source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="Orphanet:824"} +xref: OMIM:254450 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="Orphanet:824", source="Orphanet:824/e"} xref: ONCOTREE:PMF {source="MONDO:equivalentTo"} xref: Orphanet:824 {source="OMIM:254450", source="MONDO:equivalentTo"} xref: SCTID:128843003 {source="DOID:4971"} @@ -184400,14 +184366,14 @@ synonym: "plasma cell myeloma" EXACT [DOID:9538, NCIT:C3242, Orphanet:29073] xref: DOID:9538 {source="MONDO:equivalentTo", source="EFO:0001378"} xref: EFO:0001378 {source="DOID:9538", source="MONDO:equivalentTo"} xref: GARD:0007108 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="ORDO:29073/e"} +xref: ICD10CM:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"} xref: ICD10CM:C90.00 {source="DOID:9538"} xref: ICD9:203.0 {source="DOID:9538", source="EFO:0001378"} xref: ICDO:9732/3 {source="NCIT:C3242"} -xref: MedDRA:10028228 {source="Orphanet:29073", source="ORDO:29073/e"} -xref: MESH:D009101 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378", source="ORDO:29073/e"} +xref: MedDRA:10028228 {source="Orphanet:29073", source="Orphanet:29073/e"} +xref: MESH:D009101 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e", source="EFO:0001378"} xref: NCIT:C3242 {source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378"} -xref: OMIM:254500 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="ORDO:29073/e"} +xref: OMIM:254500 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"} xref: ONCOTREE:PCM {source="MONDO:equivalentTo"} xref: Orphanet:29073 {source="MONDO:equivalentTo", source="OMIM:254500"} xref: Orphanet:314701 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:254500"} @@ -184416,7 +184382,7 @@ xref: SCTID:109989006 {source="DOID:9538", source="EFO:0001378"} xref: SCTID:154585004 {source="DOID:9538"} xref: SCTID:55921005 {source="DOID:9538", source="EFO:0001378"} xref: SCTID:94705007 {source="DOID:9538"} -xref: UMLS:C0026764 {source="Orphanet:29073", source="NCIT:C3242", source="DOID:9538", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:254500", source="ORDO:29073/e"} +xref: UMLS:C0026764 {source="Orphanet:29073", source="NCIT:C3242", source="DOID:9538", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:29073/e", source="OMIM:254500"} xref: UMLS:C0268381 {source="MONDO:relatedTo", source="OMIM:254500"} is_a: MONDO:0004959 {source="EFO:0001378", source="MESH:D009101", source="NCIT:C3242", source="Orphanet:29073"} ! plasma cell neoplasm is_a: MONDO:0005170 {source="DOID:9538", source="MONDO:Entailed", source="MONDO:Redundant"} ! myeloid neoplasm @@ -184437,13 +184403,13 @@ synonym: "MPO deficiency" EXACT [OMIM:254600, Orphanet:2587] synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254600] synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600] xref: GARD:0003868 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.3 {source="Orphanet:2587", source="ORDO:2587/attributed", source="ORDO:2587/ntbt"} +xref: ICD10CM:E80.3 {source="Orphanet:2587/attributed", source="Orphanet:2587/ntbt", source="Orphanet:2587"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562864 {source="MONDO:equivalentTo"} -xref: OMIM:254600 {source="ORDO:2587/e", source="Orphanet:2587", source="MONDO:equivalentTo"} +xref: OMIM:254600 {source="Orphanet:2587", source="MONDO:equivalentTo", source="Orphanet:2587/e"} xref: Orphanet:2587 {source="MONDO:equivalentTo", source="OMIM:254600"} xref: SCTID:234433009 {source="MONDO:equivalentTo"} -xref: UMLS:C0398595 {source="ORDO:2587/e", source="NCBI:mim2gene_medline", source="Orphanet:2587", source="MONDO:equivalentTo", source="OMIM:254600"} +xref: UMLS:C0398595 {source="NCBI:mim2gene_medline", source="Orphanet:2587", source="MONDO:equivalentTo", source="Orphanet:2587/e", source="OMIM:254600"} is_a: MONDO:0015978 {source="Orphanet:2587"} ! functional neutrophil defect is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7218 {source="mim2gene_medgen"} ! MPO @@ -184478,26 +184444,26 @@ synonym: "petit mal, impulsive" NARROW [OMIM:254770] xref: DOID:4890 {source="MONDO:equivalentTo"} xref: EFO:0006572 {source="MONDO:equivalentTo"} xref: GARD:0006808 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:307", source="ORDO:307/attributed", source="ORDO:307/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:307", source="Orphanet:307/attributed", source="Orphanet:307/ntbt"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071082 {source="ORDO:307/e", source="Orphanet:307"} -xref: MESH:D020190 {source="ORDO:307/e", source="MONDO:equivalentTo", source="Orphanet:307", source="DOID:4890"} +xref: MedDRA:10071082 {source="Orphanet:307", source="Orphanet:307/e"} +xref: MESH:D020190 {source="MONDO:equivalentTo", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890"} xref: NCIT:C84796 {source="MONDO:equivalentTo", source="DOID:4890"} -xref: OMIM:254770 {source="ORDO:307/e", source="MONDO:equivalentTo", source="Orphanet:307", source="DOID:4890"} -xref: OMIM:604827 {source="MONDO:relatedTo", source="ORDO:307/ntbt"} +xref: OMIM:254770 {source="MONDO:equivalentTo", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890"} +xref: OMIM:604827 {source="MONDO:relatedTo", source="Orphanet:307/ntbt"} xref: OMIM:606904 {source="MONDO:equivalentObsolete", source="GARD:0006808"} -xref: OMIM:607628 {source="MONDO:relatedTo", source="ORDO:307/ntbt"} -xref: OMIM:607682 {source="MONDO:relatedTo", source="ORDO:307/ntbt"} -xref: OMIM:608816 {source="MONDO:relatedTo", source="ORDO:307/btnt"} -xref: OMIM:611136 {source="MONDO:relatedTo", source="ORDO:307/ntbt"} -xref: OMIM:611364 {source="MONDO:relatedTo", source="ORDO:307/btnt"} -xref: OMIM:613060 {source="MONDO:relatedTo", source="ORDO:307/ntbt"} -xref: OMIM:614280 {source="MONDO:relatedTo", source="ORDO:307/btnt"} +xref: OMIM:607628 {source="MONDO:relatedTo", source="Orphanet:307/ntbt"} +xref: OMIM:607682 {source="MONDO:relatedTo", source="Orphanet:307/ntbt"} +xref: OMIM:608816 {source="MONDO:relatedTo", source="Orphanet:307/btnt"} +xref: OMIM:611136 {source="MONDO:relatedTo", source="Orphanet:307/ntbt"} +xref: OMIM:611364 {source="MONDO:relatedTo", source="Orphanet:307/btnt"} +xref: OMIM:613060 {source="MONDO:relatedTo", source="Orphanet:307/ntbt"} +xref: OMIM:614280 {source="MONDO:relatedTo", source="Orphanet:307/btnt"} xref: OMIMPS:254770 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:equivalentTo", source="OMIM:254770"} xref: Orphanet:862 {source="DOID:4890"} xref: SCTID:6204001 {source="MONDO:equivalentTo", source="DOID:4890"} -xref: UMLS:C0270853 {source="ORDO:307/e", source="MONDO:equivalentTo", source="OMIM:254770", source="Orphanet:307", source="DOID:4890", source="NCIT:C84796"} +xref: UMLS:C0270853 {source="MONDO:equivalentTo", source="OMIM:254770", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890", source="NCIT:C84796"} xref: UMLS:C1850778 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:254770"} is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome is_a: MONDO:0005027 {source="DOID:4890/inferred", source="MESH:D020190/inferred", source="MONDO:Redundant", source="NCIT:C84796", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy @@ -184534,14 +184500,14 @@ synonym: "progressive myoclonic epilepsy type 2" EXACT [Orphanet:501] synonym: "progressive myoclonus epilepsy type 2" EXACT [Orphanet:501] xref: DOID:3534 {source="MONDO:equivalentTo"} xref: GARD:0008214 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:501", source="ORDO:501/attributed", source="ORDO:501/ntbt"} -xref: MedDRA:10054030 {source="Orphanet:501", source="ORDO:501/e"} -xref: MESH:D020192 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="ORDO:501/e"} +xref: ICD10CM:G40.3 {source="Orphanet:501/attributed", source="Orphanet:501/ntbt", source="Orphanet:501"} +xref: MedDRA:10054030 {source="Orphanet:501", source="Orphanet:501/e"} +xref: MESH:D020192 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="Orphanet:501/e"} xref: NCIT:C84804 {source="MONDO:equivalentTo", source="DOID:3534"} -xref: OMIM:254780 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="ORDO:501/e"} +xref: OMIM:254780 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="Orphanet:501/e"} xref: Orphanet:501 {source="OMIM:254780", source="MONDO:equivalentTo"} xref: SCTID:230425004 {source="MONDO:equivalentTo", source="DOID:3534"} -xref: UMLS:C0751783 {source="Orphanet:501", source="OMIM:254780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3534", source="NCIT:C84804", source="ORDO:501/e"} +xref: UMLS:C0751783 {source="Orphanet:501", source="OMIM:254780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3534", source="NCIT:C84804", source="Orphanet:501/e"} xref: UMLS:C1850764 {source="OMIM:254780", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020074 {source="DC-OMIM:254780", source="DOID:3534", source="MESH:D020192", source="OMIM:254780", source="Orphanet:501", source="linkedlifedata"} ! progressive myoclonus epilepsy @@ -184577,19 +184543,19 @@ synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535] synonym: "Unverricht-Lundborg syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:3535 {source="MONDO:equivalentTo"} xref: GARD:0003876 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.3 {source="ORDO:308/attributed", source="ORDO:308/ntbt", source="Orphanet:308"} -xref: MedDRA:10054895 {source="ORDO:308/e", source="Orphanet:308"} -xref: MESH:D020194 {source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308"} -xref: OMIM:254800 {source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308"} -xref: OMIM:310370 {source="ORDO:308/btnt", source="Orphanet:308", source="MONDO:superClassOf"} -xref: OMIM:612437 {source="ORDO:308/btnt", source="Orphanet:308", source="MONDO:superClassOf"} +xref: ICD10CM:G40.3 {source="Orphanet:308", source="Orphanet:308/attributed", source="Orphanet:308/ntbt"} +xref: MedDRA:10054895 {source="Orphanet:308", source="Orphanet:308/e"} +xref: MESH:D020194 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"} +xref: OMIM:254800 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"} +xref: OMIM:310370 {source="Orphanet:308", source="MONDO:superClassOf", source="Orphanet:308/btnt"} +xref: OMIM:612437 {source="Orphanet:308", source="MONDO:superClassOf", source="Orphanet:308/btnt"} xref: Orphanet:308 {source="MONDO:equivalentTo", source="OMIM:254800"} xref: SCTID:192844008 {source="DOID:3535"} xref: SCTID:192847001 {source="DOID:3535"} xref: SCTID:230423006 {source="DOID:3535", source="MONDO:equivalentTo"} xref: SCTID:230424000 {source="DOID:3535"} xref: SCTID:89480000 {source="DOID:3535"} -xref: UMLS:C0751785 {source="NCBI:mim2gene_medline", source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="OMIM:254800"} +xref: UMLS:C0751785 {source="NCBI:mim2gene_medline", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e", source="OMIM:254800"} is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020074 {source="DC-OMIM:254800", source="DOID:3535", source="MESH:D020194", source="OMIM:254800", source="Orphanet:308", source="linkedlifedata"} ! progressive myoclonus epilepsy is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy @@ -184609,7 +184575,7 @@ synonym: "epilepsy, progressive myoclonic, 4, with or without renal failure" REL synonym: "EPM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254900, Orphanet:163696] synonym: "myoclonus-nephropathy syndrome" EXACT [OMIM:254900, Orphanet:163696] synonym: "progressive myoclonic epilepsy type 4" EXACT [Orphanet:163696] -xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source="ORDO:163696/e"} +xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source="Orphanet:163696/e"} xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"} xref: SCTID:764453009 {source="MONDO:equivalentTo"} xref: UMLS:C0751779 {source="NCBI:mim2gene_medline", source="Orphanet:163696", source="MONDO:notFoundInDiseaseSubset", source="OMIM:254900"} @@ -184636,10 +184602,10 @@ synonym: "myopathy, congenital nonprogressive, with Moebius sequence and Robin s synonym: "myopathy-Moebius-Robin syndrome" EXACT [Orphanet:1358] xref: DOID:0080194 {source="MONDO:equivalentTo"} xref: GARD:0003889 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1358/attributed", source="ORDO:1358/ntbt", source="Orphanet:1358"} +xref: ICD10CM:Q87.0 {source="Orphanet:1358", source="Orphanet:1358/attributed", source="Orphanet:1358/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536102 {source="MONDO:equivalentTo"} -xref: OMIM:254940 {source="MONDO:equivalentTo", source="Orphanet:1358", source="ORDO:1358/e"} +xref: OMIM:254940 {source="MONDO:equivalentTo", source="Orphanet:1358", source="Orphanet:1358/e"} xref: Orphanet:1358 {source="MONDO:equivalentTo", source="OMIM:254940"} xref: SCTID:429753001 {source="MONDO:equivalentTo"} xref: UMLS:C1850746 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1358", source="OMIM:254940"} @@ -184704,9 +184670,9 @@ synonym: "CPT2, adult-onset form" EXACT [Orphanet:228302] synonym: "CPT2, myopathic form" EXACT [Orphanet:228302] synonym: "CPTII, adult-onset form" EXACT [Orphanet:228302] synonym: "CPTII, myopathic form" EXACT [Orphanet:228302] -xref: ICD10CM:E71.3 {source="ORDO:228302/attributed", source="ORDO:228302/ntbt", source="Orphanet:228302"} +xref: ICD10CM:E71.3 {source="Orphanet:228302/attributed", source="Orphanet:228302/ntbt", source="Orphanet:228302"} xref: MESH:C563461 {source="MONDO:equivalentTo"} -xref: OMIM:255110 {source="MONDO:equivalentTo", source="Orphanet:228302", source="ORDO:228302/e"} +xref: OMIM:255110 {source="Orphanet:228302/e", source="MONDO:equivalentTo", source="Orphanet:228302"} xref: Orphanet:157 {source="MONDO:subClassOf", source="OMIM:255110"} xref: Orphanet:228302 {source="OMIM:255110", source="MONDO:equivalentTo"} xref: UMLS:C1833508 {source="OMIM:255110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:228302"} @@ -184749,11 +184715,11 @@ synonym: "L-CPTI deficiency" EXACT [GARD:0001120, Orphanet:156] xref: DOID:0090129 {source="MONDO:equivalentTo"} xref: GARD:0001120 {source="MONDO:equivalentTo"} xref: HGNC:2328 {source="GARD:0001120"} -xref: ICD10CM:E71.3 {source="ORDO:156/ntbt", source="ORDO:156/inclusion", source="DOID:0090129", source="Orphanet:156"} +xref: ICD10CM:E71.3 {source="Orphanet:156/ntbt", source="Orphanet:156/inclusion", source="DOID:0090129", source="Orphanet:156"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535588 {source="MONDO:equivalentTo"} xref: NCIT:C98871 {source="MONDO:equivalentTo"} -xref: OMIM:255120 {source="MONDO:equivalentTo", source="ORDO:156/e", source="DOID:0090129", source="Orphanet:156"} +xref: OMIM:255120 {source="Orphanet:156/e", source="MONDO:equivalentTo", source="DOID:0090129", source="Orphanet:156"} xref: Orphanet:156 {source="OMIM:255120", source="MONDO:equivalentTo", source="DOID:0090129", source="GARD:0001120"} xref: SCTID:238001003 {source="MONDO:equivalentTo"} xref: UMLS:C0342789 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -184779,10 +184745,10 @@ synonym: "myoglobinuria due to abnormal glycolysis" RELATED [OMIM:255125] synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [OMIM:255125] synonym: "myopathy with exercise intolerance, Swedish type" EXACT [OMIM:255125, Orphanet:43115] synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical, OMIM:255125] -xref: ICD10CM:G71.3 {source="Orphanet:43115", source="ORDO:43115/attributed", source="ORDO:43115/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:43115/attributed", source="Orphanet:43115/ntbt", source="Orphanet:43115"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564972 {source="MONDO:equivalentTo"} -xref: OMIM:255125 {source="Orphanet:43115", source="MONDO:equivalentTo", source="ORDO:43115/e"} +xref: OMIM:255125 {source="Orphanet:43115", source="MONDO:equivalentTo", source="Orphanet:43115/e"} xref: Orphanet:43115 {source="MONDO:equivalentTo", source="OMIM:255125"} xref: SCTID:699268002 {source="MONDO:equivalentTo"} xref: UMLS:C1850718 {source="Orphanet:43115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255125"} @@ -184811,7 +184777,7 @@ xref: MESH:C564970 {source="MONDO:equivalentTo"} xref: OMIM:255160 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="MONDO:subClassOf", source="OMIM:255160"} xref: UMLS:C1850709 {source="OMIM:255160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018889 {source="ORDO:53698/btnt"} ! hyaline body myopathy +is_a: MONDO:0018889 {source="Orphanet:53698/btnt"} ! hyaline body myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7577 {source="mim2gene_medgen"} ! MYH7 property_value: confidence "29.33333333333344" xsd:double @@ -184832,7 +184798,7 @@ xref: MESH:C562934 {source="MONDO:equivalentTo"} xref: OMIM:255200 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="MONDO:subClassOf", source="OMIM:255200"} xref: UMLS:C0410204 {source="NCBI:mim2gene_medline", source="OMIM:255200", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015705 {source="ORDO:169186/btnt"} ! autosomal recessive centronuclear myopathy +is_a: MONDO:0015705 {source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:255200", source="indirect"} ! centronuclear myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1052 ! BIN1 @@ -184850,21 +184816,21 @@ synonym: "myopathy, congenital" RELATED [OMIM:255300] synonym: "myotonia congenita" EXACT [Orphanet:614] xref: DOID:2106 {source="MONDO:equivalentTo"} xref: GARD:0012301 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.1 {source="Orphanet:614", source="ORDO:614/inclusion", source="ORDO:614/ntbt"} +xref: ICD10CM:G71.1 {source="Orphanet:614/ntbt", source="Orphanet:614/inclusion", source="Orphanet:614"} xref: ICD10CM:G71.12 {source="MONDO:equivalentTo"} xref: ICD9:359.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:2106"} -xref: MedDRA:10028655 {source="ORDO:614/e", source="Orphanet:614"} -xref: MedDRA:10043461 {source="ORDO:614/e", source="Orphanet:614"} +xref: MedDRA:10028655 {source="Orphanet:614", source="Orphanet:614/e"} +xref: MedDRA:10043461 {source="Orphanet:614", source="Orphanet:614/e"} xref: MESH:D009224 {source="MONDO:relatedTo", source="DOID:2106"} xref: NCIT:C84912 {source="MONDO:equivalentTo", source="DOID:2106"} -xref: OMIM:160800 {source="Orphanet:614", source="MONDO:superClassOf", source="ORDO:614/btnt", source="DOID:2106"} +xref: OMIM:160800 {source="Orphanet:614/btnt", source="Orphanet:614", source="MONDO:superClassOf", source="DOID:2106"} xref: OMIM:255300 {source="MONDO:directSiblingOf"} -xref: OMIM:255700 {source="Orphanet:614", source="MONDO:superClassOf", source="ORDO:614/btnt", source="DOID:2106"} +xref: OMIM:255700 {source="Orphanet:614/btnt", source="Orphanet:614", source="MONDO:superClassOf", source="DOID:2106"} xref: Orphanet:614 {source="MONDO:equivalentTo", source="DOID:2106"} xref: SCTID:726051002 {source="MONDO:equivalentTo"} -xref: UMLS:C0027127 {source="ORDO:614/e", source="Orphanet:614", source="NCIT:C84912", source="MONDO:equivalentTo", source="DOID:2106", source="OMIM:255300"} +xref: UMLS:C0027127 {source="Orphanet:614", source="NCIT:C84912", source="MONDO:equivalentTo", source="DOID:2106", source="OMIM:255300", source="Orphanet:614/e"} xref: UMLS:C0270960 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2936781 {source="ORDO:614/e", source="Orphanet:614", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2936781 {source="Orphanet:614", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:614/e"} is_a: MONDO:0016121 {source="Orphanet:614"} ! congenital myotonia is_a: MONDO:0019119 {source="Orphanet:614"} ! muscular channelopathy is_a: MONDO:0019952 {source="DC-OMIM:255300"} ! congenital myopathy @@ -184887,12 +184853,12 @@ synonym: "myopathy, congenital, with fiber-type disproportion" RELATED [MONDO:Le synonym: "myopathy, congenital, with fiber-type disproportion 1" EXACT [OMIM:255310, OMIM:genemap2] xref: DOID:0080102 {source="MONDO:equivalentTo"} xref: GARD:0006161 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:2020/inclusion", source="ORDO:2020/ntbt", source="Orphanet:2020"} +xref: ICD10CM:G71.2 {source="Orphanet:2020/ntbt", source="Orphanet:2020/inclusion", source="Orphanet:2020"} xref: NCIT:C120046 {source="MONDO:equivalentTo"} -xref: OMIM:255310 {source="MONDO:equivalentTo", source="DOID:0080102", source="ORDO:2020/e", source="Orphanet:2020"} -xref: OMIM:300580 {source="DOID:0080102", source="MONDO:superClassOf", source="ORDO:2020/btnt", source="Orphanet:2020"} +xref: OMIM:255310 {source="Orphanet:2020/e", source="MONDO:equivalentTo", source="DOID:0080102", source="Orphanet:2020"} +xref: OMIM:300580 {source="Orphanet:2020/btnt", source="DOID:0080102", source="MONDO:superClassOf", source="Orphanet:2020"} xref: Orphanet:2020 {source="MONDO:equivalentTo", source="OMIM:255310"} -xref: UMLS:C0546264 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255310", source="NCIT:C120046", source="ORDO:2020/e", source="Orphanet:2020"} +xref: UMLS:C0546264 {source="NCBI:mim2gene_medline", source="Orphanet:2020/e", source="MONDO:equivalentTo", source="OMIM:255310", source="NCIT:C120046", source="Orphanet:2020"} is_a: MONDO:0002921 {source="OMIM:255310"} ! congenital structural myopathy is_a: MONDO:0005336 {source="MONDO:Redundant", source="NCIT:C120046", source="indirect"} ! myopathy is_a: MONDO:0019952 {source="DOID:0080102"} ! congenital myopathy @@ -184921,9 +184887,9 @@ synonym: "multicore myopathy with external ophthalmoplegia" RELATED [GARD:001031 synonym: "multiminicore disease with external ophthalmoplegia" RELATED [OMIM:255320] synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] xref: GARD:0010316 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:98905/attributed", source="ORDO:98905/ntbt", source="Orphanet:98905"} +xref: ICD10CM:G71.2 {source="Orphanet:98905", source="Orphanet:98905/attributed", source="Orphanet:98905/ntbt"} xref: NCIT:C150608 {source="MONDO:equivalentTo"} -xref: OMIM:255320 {source="MONDO:equivalentTo", source="ORDO:98905/e", source="Orphanet:98905"} +xref: OMIM:255320 {source="Orphanet:98905/e", source="MONDO:equivalentTo", source="Orphanet:98905"} xref: Orphanet:598 {source="MONDO:subClassOf", source="OMIM:255320"} xref: Orphanet:98905 {source="MONDO:equivalentTo", source="OMIM:255320"} xref: UMLS:C1850674 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255320", source="Orphanet:98905"} @@ -184956,13 +184922,13 @@ synonym: "myopathy, myosclerotic" RELATED [OMIM:255600] synonym: "myosclerosis, autosomal recessive" RELATED [OMIM:255600] synonym: "myosclerosis, congenital" EXACT [OMIM:255600, OMIM:genemap2] synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600] -xref: ICD10CM:G71.8 {source="ORDO:289380/attributed", source="ORDO:289380/ntbt", source="Orphanet:289380"} -xref: MedDRA:10064584 {source="ORDO:289380/e", source="Orphanet:289380"} +xref: ICD10CM:G71.8 {source="Orphanet:289380/attributed", source="Orphanet:289380/ntbt", source="Orphanet:289380"} +xref: MedDRA:10064584 {source="Orphanet:289380/e", source="Orphanet:289380"} xref: MESH:C564968 {source="MONDO:equivalentTo"} -xref: OMIM:255600 {source="MONDO:equivalentTo", source="ORDO:289380/e", source="Orphanet:289380"} +xref: OMIM:255600 {source="Orphanet:289380/e", source="MONDO:equivalentTo", source="Orphanet:289380"} xref: Orphanet:289380 {source="MONDO:equivalentTo", source="OMIM:255600"} xref: SCTID:763895001 {source="MONDO:equivalentTo"} -xref: UMLS:C1611706 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:289380/e", source="Orphanet:289380"} +xref: UMLS:C1611706 {source="Orphanet:289380/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:289380"} xref: UMLS:C1850671 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:255600"} is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2212 {source="mim2gene_medgen"} ! COL6A2 @@ -184998,12 +184964,12 @@ synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED D synonym: "myotonia-intellectual disability-skeletal anomalies syndrome" EXACT [Orphanet:3101] synonym: "Richieri Costa Da Silva syndrome" RELATED [GARD:0004709] xref: GARD:0004709 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3101", source="ORDO:3101/attributed", source="ORDO:3101/ntbt"} -xref: MESH:C535675 {source="Orphanet:3101", source="ORDO:3101/e", source="MONDO:equivalentTo"} -xref: OMIM:255710 {source="Orphanet:3101", source="ORDO:3101/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:3101", source="Orphanet:3101/attributed", source="Orphanet:3101/ntbt"} +xref: MESH:C535675 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} +xref: OMIM:255710 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} xref: Orphanet:3101 {source="MONDO:equivalentTo", source="OMIM:255710"} xref: UMLS:C1850654 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:255710"} -xref: UMLS:C2930978 {source="Orphanet:3101", source="ORDO:3101/e", source="MONDO:equivalentTo"} +xref: UMLS:C2930978 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"} is_a: MONDO:0015161 {source="Orphanet:3101", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:3101"} ! spondyloepiphyseal dysplasia is_a: MONDO:0043008 {source="Orphanet:3101"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -185034,14 +185000,14 @@ synonym: "Schwartz-Jampel syndrome" EXACT CLINGEN_PREFERRED [Orphanet:800] synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [DOID:0090005, OMIM:255800, Orphanet:800] synonym: "SJS" EXACT ABBREVIATION [Orphanet:800] xref: GARD:0000250 {source="MONDO:equivalentObsolete", source="Orphanet-shared"} -xref: ICD10CM:G71.1 {source="Orphanet:800", source="DOID:0090005", source="ORDO:800/attributed", source="ORDO:800/ntbt"} -xref: ICD10CM:Q78.8 {source="Orphanet:800", source="ORDO:800/ntbt", source="ORDO:800/index"} +xref: ICD10CM:G71.1 {source="Orphanet:800/attributed", source="Orphanet:800/ntbt", source="Orphanet:800", source="DOID:0090005"} +xref: ICD10CM:Q78.8 {source="Orphanet:800/ntbt", source="Orphanet:800", source="Orphanet:800/index"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C35008 {source="MONDO:equivalentTo"} -xref: OMIM:255800 {source="MONDO:subClassOf", source="ORDO:800/e", source="Orphanet:800"} +xref: OMIM:255800 {source="MONDO:subClassOf", source="Orphanet:800", source="Orphanet:800/e"} xref: Orphanet:800 {source="MONDO:equivalentTo", source="DOID:0090005", source="OMIM:255800"} xref: SCTID:29145002 {source="MONDO:equivalentTo"} -xref: UMLS:C0036391 {source="ORDO:800/e", source="NCBI:mim2gene_medline", source="Orphanet:800", source="MONDO:equivalentTo", source="OMIM:255800", source="NCIT:C35008"} +xref: UMLS:C0036391 {source="NCBI:mim2gene_medline", source="Orphanet:800", source="MONDO:equivalentTo", source="Orphanet:800/e", source="OMIM:255800", source="NCIT:C35008"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35008", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0090005", source="MONDO:Redundant", comment="Orphanet:800"} ! autosomal recessive disease is_a: MONDO:0016106 {source="Orphanet:800"} ! progressive muscular dystrophy @@ -185082,12 +185048,12 @@ synonym: "atrial Myxoma, familial" RELATED [OMIM:255960] synonym: "intracardiac myxoma" RELATED [GARD:0000139] synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960] xref: GARD:0000139 {source="MONDO:equivalentTo"} -xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="ORDO:615/attributed", source="ORDO:615/ntbt"} -xref: MESH:C538262 {source="ORDO:615/e", source="MONDO:equivalentTo", source="Orphanet:615"} -xref: OMIM:255960 {source="ORDO:615/e", source="MONDO:equivalentTo", source="Orphanet:615"} +xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="Orphanet:615/attributed", source="Orphanet:615/ntbt"} +xref: MESH:C538262 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} +xref: OMIM:255960 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} xref: Orphanet:615 {source="MONDO:equivalentTo", source="OMIM:255960"} xref: SCTID:233855002 {source="MONDO:equivalentTo"} -xref: UMLS:C1850635 {source="ORDO:615/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:615", source="OMIM:255960"} +xref: UMLS:C1850635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:615", source="OMIM:255960", source="Orphanet:615/e"} xref: UMLS:C2931787 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:255960"} is_a: MONDO:0017129 {source="Orphanet:615"} ! inherited cardiac tumor is_a: MONDO:0021209 {source="MONDO:Redundant", source="Orphanet:615", source="indirect"} ! heart neoplasm @@ -185107,13 +185073,13 @@ synonym: "KPTS" EXACT ABBREVIATION [OMIM:301026] synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662] synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] xref: GARD:0000267 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2662", source="ORDO:2662/attributed", source="ORDO:2662/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2662/attributed", source="Orphanet:2662/ntbt", source="Orphanet:2662"} xref: MESH:C538337 {source="MONDO:equivalentTo"} -xref: OMIM:255980 {source="ORDO:2662/e", source="Orphanet:2662", source="MONDO:equivalentObsolete"} +xref: OMIM:255980 {source="Orphanet:2662", source="MONDO:equivalentObsolete", source="Orphanet:2662/e"} xref: OMIM:301026 {source="MONDO:equivalentTo"} xref: Orphanet:2662 {source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980"} xref: SCTID:763774001 {source="MONDO:equivalentTo"} -xref: UMLS:C1850627 {source="ORDO:2662/e", source="Orphanet:2662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980"} +xref: UMLS:C1850627 {source="Orphanet:2662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980", source="Orphanet:2662/e"} is_a: MONDO:0000001 {source="OMIM:301026"} ! disease or disorder is_a: MONDO:0015161 {source="Orphanet:2662", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2662", source="Orphanet:2662/inferred"} ! disorder of development or morphogenesis @@ -185134,12 +185100,12 @@ synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [Orphanet:2663] synonym: "Nathalie syndrome" EXACT [OMIM:255990] synonym: "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome" EXACT [Orphanet:2663] xref: GARD:0003929 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2663", source="ORDO:2663/attributed", source="ORDO:2663/ntbt"} -xref: MESH:C538342 {source="Orphanet:2663", source="ORDO:2663/e", source="MONDO:equivalentTo"} -xref: OMIM:255990 {source="Orphanet:2663", source="ORDO:2663/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2663", source="Orphanet:2663/attributed", source="Orphanet:2663/ntbt"} +xref: MESH:C538342 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"} +xref: OMIM:255990 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"} xref: Orphanet:2663 {source="OMIM:255990", source="MONDO:equivalentTo"} xref: SCTID:716170005 {source="MONDO:equivalentTo"} -xref: UMLS:C1850626 {source="Orphanet:2663", source="ORDO:2663/e", source="OMIM:255990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1850626 {source="Orphanet:2663", source="OMIM:255990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2663/e"} is_a: MONDO:0020225 {source="Orphanet:2663"} ! syndromic cataract property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome xsd:anyURI {source="GARD:0003929"} @@ -185160,12 +185126,12 @@ synonym: "Native American myopathy" EXACT DEPRECATED [MONDO:Lexical, OMIM:255995 synonym: "STAC3 disorder" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK542808/] xref: DOID:0060346 {source="MONDO:equivalentTo"} xref: GARD:0008432 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:168572/attributed", source="ORDO:168572/ntbt", source="Orphanet:168572"} -xref: MESH:C538343 {source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572", source="ORDO:168572/e"} -xref: OMIM:255995 {source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572", source="ORDO:168572/e"} +xref: ICD10CM:G71.2 {source="Orphanet:168572/attributed", source="Orphanet:168572/ntbt", source="Orphanet:168572"} +xref: MESH:C538343 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"} +xref: OMIM:255995 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"} xref: Orphanet:168572 {source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995"} xref: SCTID:723439002 {source="MONDO:equivalentTo"} -xref: UMLS:C1850625 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995", source="Orphanet:168572", source="ORDO:168572/e"} +xref: UMLS:C1850625 {source="Orphanet:168572/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995", source="Orphanet:168572"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder is_a: MONDO:0015335 {source="Orphanet:168572"} ! orofacial clefting syndrome is_a: MONDO:0019952 {source="Orphanet:168572"} ! congenital myopathy @@ -185201,19 +185167,19 @@ synonym: "subacute necrotizing encephalomyelopathy" RELATED [DOID:3652] synonym: "subacute necrotizing encephalopathy" RELATED [GARD:0006877] xref: DOID:3652 {source="MONDO:equivalentTo"} xref: GARD:0006877 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G31.8 {source="ORDO:506/ntbt", source="Orphanet:506", source="ORDO:506/inclusion"} +xref: ICD10CM:G31.8 {source="Orphanet:506/inclusion", source="Orphanet:506", source="Orphanet:506/ntbt"} xref: ICD10CM:G31.82 {source="DOID:3652"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062950 {source="ORDO:506/e", source="Orphanet:506"} -xref: MESH:D007888 {source="DOID:3652", source="ORDO:506/e", source="MONDO:equivalentTo", source="Orphanet:506"} +xref: MedDRA:10062950 {source="Orphanet:506", source="Orphanet:506/e"} +xref: MESH:D007888 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"} xref: NCIT:C84814 {source="DOID:3652", source="MONDO:equivalentTo"} xref: OMIM:220111 {source="DOID:3652", source="MONDO:superClassOf"} -xref: OMIM:256000 {source="DOID:3652", source="ORDO:506/e", source="MONDO:equivalentTo", source="Orphanet:506"} +xref: OMIM:256000 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"} xref: Orphanet:255210 {source="OMIM:256000", source="MONDO:superClassOf"} xref: Orphanet:506 {source="OMIM:256000", source="MONDO:equivalentTo", comment="DOID:3652"} xref: SCTID:29570005 {source="DOID:3652", source="MONDO:equivalentTo"} -xref: UMLS:C0023264 {source="DOID:3652", source="NCIT:C84814", source="NCBI:mim2gene_medline", source="OMIM:256000", source="ORDO:506/e", source="MONDO:equivalentTo", source="Orphanet:506"} -xref: UMLS:C0751267 {source="ORDO:506/e", source="Orphanet:506", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0023264 {source="DOID:3652", source="NCIT:C84814", source="NCBI:mim2gene_medline", source="OMIM:256000", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"} +xref: UMLS:C0751267 {source="Orphanet:506", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:506/e"} xref: UMLS:C1838951 {source="OMIM:256000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1850597 {source="OMIM:256000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1850598 {source="OMIM:256000", source="MONDO:notFoundInDiseaseSubset"} @@ -185242,10 +185208,10 @@ synonym: "Salcedo syndrome" EXACT [Orphanet:2613] xref: GARD:0000321 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537228 {source="MONDO:equivalentTo"} -xref: OMIM:256020 {source="MONDO:equivalentTo", source="ORDO:2613/e", source="Orphanet:2613"} +xref: OMIM:256020 {source="MONDO:equivalentTo", source="Orphanet:2613", source="Orphanet:2613/e"} xref: Orphanet:2613 {source="OMIM:256020", source="MONDO:equivalentTo"} xref: SCTID:236527004 {source="MONDO:equivalentTo"} -xref: UMLS:C0403548 {source="OMIM:256020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2613/e", source="Orphanet:2613"} +xref: UMLS:C0403548 {source="OMIM:256020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2613", source="Orphanet:2613/e"} is_a: MONDO:0015163 {source="Orphanet:2613"} ! primary glomerular disease relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "4.277777777777778" xsd:double @@ -185268,10 +185234,10 @@ xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:256030"} xref: UMLS:C1850569 {source="OMIM:256030", source="NCIT:C118784", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN187052 {source="MONDO:equivalentTo"} is_a: MONDO:0005336 {source="DOID:0110928/inferred", source="MONDO:Redundant", source="NCIT:C118784", source="indirect"} ! myopathy -is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy -is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy -is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy -is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy +is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy +is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy +is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy +is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110928", source="MESH:C538349", source="MONDO:Redundant", source="OMIM:256030", source="indirect"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7720 ! NEB @@ -185313,10 +185279,10 @@ xref: GARD:0003916 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0003917 {source="MONDO:equivalentTo"} xref: GARD:0010811 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0010988 {source="MONDO:equivalentTo"} -xref: ICD10CM:L98.8 {source="ORDO:2615/attributed", source="ORDO:2615/ntbt", source="Orphanet:2615"} +xref: ICD10CM:L98.8 {source="Orphanet:2615/attributed", source="Orphanet:2615/ntbt", source="Orphanet:2615"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538334 {source="MONDO:equivalentTo"} -xref: OMIM:256040 {source="Orphanet:325004", source="ORDO:2615/ntbt", source="ORDO:324977/e", source="MONDO:superClassOf", source="ORDO:324999/ntbt", source="Orphanet:324977", source="Orphanet:324999", source="GARD:0010811", source="Orphanet:2615", source="GARD:0003917", source="ORDO:325004/ntbt"} +xref: OMIM:256040 {source="Orphanet:325004", source="Orphanet:325004/ntbt", source="MONDO:superClassOf", source="Orphanet:324977", source="Orphanet:324999", source="Orphanet:2615/ntbt", source="GARD:0010811", source="Orphanet:2615", source="GARD:0003917", source="Orphanet:324977/e", source="Orphanet:324999/ntbt"} xref: OMIMPS:256040 {source="MONDO:equivalentTo"} xref: Orphanet:1953 {source="GARD:0003917"} xref: Orphanet:2615 {source="OMIM:256040", source="MONDO:equivalentTo"} @@ -185359,13 +185325,13 @@ synonym: "De la Chapelle dysplasia" EXACT [Orphanet:56304] synonym: "neonatal osseous dysplasia 1" RELATED [OMIM:256050] synonym: "neonatal osseous dysplasia type 1" EXACT [Orphanet:56304] xref: GARD:0008329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.5 {source="Orphanet:56304", source="MONDO:directSiblingOf", source="ORDO:56304/attributed", source="ORDO:56304/ntbt"} +xref: ICD10CM:Q77.5 {source="Orphanet:56304/attributed", source="Orphanet:56304/ntbt", source="Orphanet:56304", source="MONDO:directSiblingOf"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535395 {source="Orphanet:56304", source="MONDO:equivalentTo", source="ORDO:56304/e"} -xref: OMIM:256050 {source="Orphanet:56304", source="MONDO:equivalentTo", source="ORDO:56304/e"} +xref: MESH:C535395 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"} +xref: OMIM:256050 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"} xref: Orphanet:56304 {source="MONDO:equivalentTo", source="OMIM:256050"} xref: SCTID:254055004 {source="MONDO:equivalentTo"} -xref: UMLS:C0432203 {source="Orphanet:56304", source="MONDO:notFoundInDiseaseSubset", source="ORDO:56304/e"} +xref: UMLS:C0432203 {source="Orphanet:56304", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:56304/e"} xref: UMLS:C1850554 {source="Orphanet:56304", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256050"} xref: UMLS:C1850555 {source="Orphanet:56304", source="MONDO:equivalentTo", source="OMIM:256050"} is_a: MONDO:0000389 {source="DC-OMIM:256050", source="OMIM:256050", source="linkedlifedata"} ! atelosteogenesis @@ -185396,7 +185362,7 @@ synonym: "Nph1" RELATED [OMIM:256100] synonym: "NPHP1" EXACT ABBREVIATION [DOID:0111112, MONDO:Lexical, OMIM:256100] synonym: "NPHP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111112 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q61.5 {source="Orphanet:93592", source="ORDO:93592/attributed", source="ORDO:93592/ntbt"} +xref: ICD10CM:Q61.5 {source="Orphanet:93592", source="Orphanet:93592/attributed", source="Orphanet:93592/ntbt"} xref: MESH:C537699 {source="MONDO:equivalentTo"} xref: NCIT:C74998 {source="MONDO:equivalentTo"} xref: OMIM:256100 {source="MONDO:equivalentTo", source="DOID:0111112"} @@ -185427,12 +185393,12 @@ synonym: "Edwards-Patton-Dilly syndrome" EXACT [Orphanet:2668] synonym: "nephropathy - deafness - hyperparathyroidism" RELATED [GARD:0003940] synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [OMIM:256120] xref: GARD:0003940 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2668/attributed", source="ORDO:2668/ntbt", source="Orphanet:2668"} -xref: MESH:C536401 {source="MONDO:equivalentTo", source="ORDO:2668/e", source="Orphanet:2668"} -xref: OMIM:256120 {source="GARD:0003940", source="MONDO:equivalentTo", source="ORDO:2668/e", source="Orphanet:2668"} +xref: ICD10CM:Q87.8 {source="Orphanet:2668", source="Orphanet:2668/attributed", source="Orphanet:2668/ntbt"} +xref: MESH:C536401 {source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} +xref: OMIM:256120 {source="GARD:0003940", source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} xref: Orphanet:2668 {source="GARD:0003940", source="OMIM:256120", source="MONDO:equivalentTo"} xref: SCTID:724093004 {source="MONDO:equivalentTo"} -xref: UMLS:C1850553 {source="GARD:0003940", source="OMIM:256120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2668/e", source="Orphanet:2668"} +xref: UMLS:C1850553 {source="GARD:0003940", source="OMIM:256120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease is_a: MONDO:0003847 {source="Orphanet:2668/inferred"} ! Mendelian disease is_a: MONDO:0019589 {source="Orphanet:2668"} ! syndromic genetic hearing loss @@ -185454,11 +185420,11 @@ synonym: "Braun-Bayer syndrome" EXACT [Orphanet:2669] synonym: "nephrosis deafness urinary tract digital malformation" RELATED [GARD:0003943] synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [OMIM:256200] xref: GARD:0003943 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2669/attributed", source="ORDO:2669/ntbt", source="Orphanet:2669"} -xref: MESH:C536402 {source="MONDO:equivalentTo", source="Orphanet:2669", source="ORDO:2669/e"} -xref: OMIM:256200 {source="MONDO:equivalentTo", source="Orphanet:2669", source="ORDO:2669/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2669", source="Orphanet:2669/attributed", source="Orphanet:2669/ntbt"} +xref: MESH:C536402 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"} +xref: OMIM:256200 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"} xref: Orphanet:2669 {source="MONDO:equivalentTo", source="OMIM:256200"} -xref: UMLS:C1850552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256200", source="Orphanet:2669", source="ORDO:2669/e"} +xref: UMLS:C1850552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256200", source="Orphanet:2669", source="Orphanet:2669/e"} is_a: MONDO:0015161 {source="Orphanet:2669", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015620 {source="Orphanet:2669"} ! syndromic urogenital tract malformation is_a: MONDO:0019589 {source="Orphanet:2669"} ! syndromic genetic hearing loss @@ -185486,14 +185452,14 @@ synonym: "nephrotic syndrome, congenital" RELATED [OMIM:256300] synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical, OMIM:256300] synonym: "NPHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256300] xref: GARD:0001500 {source="MONDO:equivalentTo"} -xref: ICD10CM:N04.8 {source="ORDO:839/attributed", source="ORDO:839/ntbt", source="Orphanet:839"} -xref: MedDRA:10060740 {source="ORDO:839/e", source="Orphanet:839"} -xref: MESH:C535761 {source="ORDO:839/e", source="Orphanet:839"} +xref: ICD10CM:N04.8 {source="Orphanet:839/attributed", source="Orphanet:839/ntbt", source="Orphanet:839"} +xref: MedDRA:10060740 {source="Orphanet:839/e", source="Orphanet:839"} +xref: MESH:C535761 {source="Orphanet:839/e", source="Orphanet:839"} xref: NCIT:C122795 {source="MONDO:equivalentTo"} -xref: OMIM:256300 {source="MONDO:equivalentTo", source="ORDO:839/e", source="Orphanet:839"} +xref: OMIM:256300 {source="Orphanet:839/e", source="MONDO:equivalentTo", source="Orphanet:839"} xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"} xref: SCTID:197601003 {source="MONDO:equivalentTo"} -xref: UMLS:C0403399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256300", source="ORDO:839/e", source="NCIT:C122795", source="Orphanet:839"} +xref: UMLS:C0403399 {source="Orphanet:839/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256300", source="NCIT:C122795", source="Orphanet:839"} is_a: MONDO:0002350 {source="OMIM:256300", source="linkedlifedata"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="NCIT:C122795", source="OMIM:256300", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! nephrotic syndrome is_a: MONDO:0015163 {source="MONDO:0019987-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary glomerular disease @@ -185579,11 +185545,11 @@ synonym: "Netherton syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:25650 synonym: "NS" EXACT ABBREVIATION [OMIM:256500, Orphanet:634] xref: DOID:0050474 {source="MONDO:equivalentTo"} xref: GARD:0007182 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q80.8 {source="Orphanet:634", source="ORDO:634/attributed", source="ORDO:634/ntbt"} -xref: MedDRA:10062909 {source="ORDO:634/e", source="Orphanet:634"} +xref: ICD10CM:Q80.8 {source="Orphanet:634", source="Orphanet:634/attributed", source="Orphanet:634/ntbt"} +xref: MedDRA:10062909 {source="Orphanet:634", source="Orphanet:634/e"} xref: MESH:D056770 {source="DOID:0050474", source="MONDO:equivalentTo"} xref: NCIT:C84922 {source="DOID:0050474", source="MONDO:equivalentTo"} -xref: OMIM:256500 {source="DOID:0050474", source="ORDO:634/e", source="Orphanet:634", source="MONDO:equivalentTo"} +xref: OMIM:256500 {source="DOID:0050474", source="Orphanet:634", source="MONDO:equivalentTo", source="Orphanet:634/e"} xref: Orphanet:634 {source="MONDO:equivalentTo", source="OMIM:256500"} xref: SCTID:205555008 {source="DOID:0050474"} xref: SCTID:239058007 {source="DOID:0050474"} @@ -185650,14 +185616,14 @@ synonym: "PPCA deficiency" RELATED [OMIM:256540] synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540] xref: DOID:0080540 {source="MONDO:equivalentTo"} xref: GARD:0003953 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.1 {source="ORDO:351/attributed", source="ORDO:351/ntbt", source="Orphanet:351"} +xref: ICD10CM:E77.1 {source="Orphanet:351", source="Orphanet:351/attributed", source="Orphanet:351/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536411 {source="MONDO:equivalentTo", source="ORDO:351/e", source="Orphanet:351"} +xref: MESH:C536411 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"} xref: NCIT:C129928 {source="MONDO:equivalentTo"} -xref: OMIM:256540 {source="MONDO:equivalentTo", source="ORDO:351/e", source="Orphanet:351"} +xref: OMIM:256540 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"} xref: Orphanet:351 {source="OMIM:256540", source="MONDO:equivalentTo"} xref: SCTID:35691006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268233 {source="OMIM:256540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:351/e", source="Orphanet:351", source="NCIT:C129928"} +xref: UMLS:C0268233 {source="Orphanet:351/e", source="OMIM:256540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:351", source="NCIT:C129928"} is_a: MONDO:0002561 {source="MESH:C536411", source="MONDO:Redundant", source="NCIT:C129928", source="Orphanet:351/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder @@ -185706,13 +185672,13 @@ synonym: "sialidosis, type I" EXACT [OMIM:256550, OMIM:genemap2] synonym: "sialidosis, type II" RELATED [GARD:0007183] xref: DOID:3343 {source="MONDO:equivalentTo"} xref: GARD:0007183 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E77.1 {source="DOID:3343", source="Orphanet:87876", source="ORDO:87876/attributed", source="ORDO:87876/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:87876/attributed", source="Orphanet:87876/ntbt", source="DOID:3343", source="Orphanet:87876"} xref: MESH:C562606 {source="MONDO:equivalentTo"} xref: MESH:D009081 {source="DOID:3343"} xref: NCIT:C125596 {source="MONDO:equivalentTo"} xref: NCIT:C61267 {source="DOID:3343", source="MONDO:directSiblingOf"} -xref: OMIM:256150 {source="Orphanet:87876", source="MONDO:equivalentTo", source="ORDO:87876/btnt"} -xref: OMIM:256550 {source="ORDO:87876/e", source="DOID:3343", source="Orphanet:87876", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: OMIM:256150 {source="Orphanet:87876/btnt", source="Orphanet:87876", source="MONDO:equivalentTo"} +xref: OMIM:256550 {source="DOID:3343", source="Orphanet:87876", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:87876/e"} xref: Orphanet:812 {source="OMIM:256550", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: Orphanet:87876 {source="OMIM:256150", source="OMIM:256550", source="MONDO:equivalentTo"} xref: SCTID:52186006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -185761,12 +185727,12 @@ synonym: "Freire-Maia Pinheiro Opitz syndrome" RELATED [GARD:0003964] synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690] synonym: "Nfdr syndrome" RELATED [OMIM:256690] xref: GARD:0003964 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2673", source="ORDO:2673/attributed", source="ORDO:2673/ntbt"} -xref: MESH:C537388 {source="ORDO:2673/e", source="Orphanet:2673", source="MONDO:equivalentTo"} -xref: OMIM:256690 {source="ORDO:2673/e", source="Orphanet:2673", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2673/attributed", source="Orphanet:2673/ntbt", source="Orphanet:2673"} +xref: MESH:C537388 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"} +xref: OMIM:256690 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"} xref: Orphanet:2673 {source="OMIM:256690", source="MONDO:equivalentTo"} xref: SCTID:725908007 {source="MONDO:equivalentTo"} -xref: UMLS:C0796088 {source="OMIM:256690", source="ORDO:2673/e", source="Orphanet:2673", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0796088 {source="OMIM:256690", source="Orphanet:2673", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2673/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2673", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2673"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019721 {source="Orphanet:2673"} ! syndromic renal or urinary tract malformation @@ -185802,13 +185768,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:33445"} synonym: "ELEJALDE disease" RELATED [OMIM:256710] synonym: "Elejalde disease" EXACT [Orphanet:33445] synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710] -xref: ICD10CM:L81.4 {source="Orphanet:33445", source="ORDO:33445/attributed", source="ORDO:33445/ntbt"} -xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="ORDO:33445/e"} -xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="ORDO:33445/e"} +xref: ICD10CM:L81.4 {source="Orphanet:33445", source="Orphanet:33445/attributed", source="Orphanet:33445/ntbt"} +xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} +xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} xref: Orphanet:33445 {source="MONDO:equivalentTo", source="OMIM:256710"} xref: SCTID:724091002 {source="MONDO:equivalentTo"} xref: UMLS:C1850466 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1860157 {source="Orphanet:33445", source="MONDO:equivalentTo", source="OMIM:256710", source="ORDO:33445/e"} +xref: UMLS:C1860157 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e", source="OMIM:256710"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0019289 {source="Orphanet:33445"} ! hyperpigmentation of the skin is_a: MONDO:0019716 {source="Orphanet:33445"} ! overgrowth syndrome @@ -185858,11 +185824,11 @@ synonym: "Santavuori-Haltia disease" NARROW [OMIM:256730] xref: DOID:0110721 {source="MONDO:equivalentTo"} xref: GARD:0001219 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0009447 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E75.4 {source="DOID:0110721", source="MONDO:subClassOf", source="Orphanet:168486", source="Orphanet:228329", source="ORDO:228329/attributed", source="ORDO:228329/ntbt", source="ORDO:168486/attributed", source="ORDO:168486/ntbt"} +xref: ICD10CM:E75.4 {source="DOID:0110721", source="MONDO:subClassOf", source="Orphanet:168486", source="Orphanet:228329/attributed", source="Orphanet:228329/ntbt", source="Orphanet:168486/attributed", source="Orphanet:168486/ntbt", source="Orphanet:228329"} xref: NCIT:C85861 {source="MONDO:equivalentTo"} xref: OMIM:214200 {source="MONDO:equivalentTo"} -xref: OMIM:256730 {source="DOID:0110721", source="ORDO:228329/e", source="Orphanet:228329", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:610127 {source="Orphanet:168486", source="MONDO:superClassOf", source="ORDO:168486/btnt"} +xref: OMIM:256730 {source="DOID:0110721", source="Orphanet:228329", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:228329/e"} +xref: OMIM:610127 {source="Orphanet:168486", source="Orphanet:168486/btnt", source="MONDO:superClassOf"} xref: Orphanet:168486 {source="MONDO:equivalentTo"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:256730"} xref: Orphanet:228329 {source="DOID:0110721", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:256730"} @@ -185879,10 +185845,10 @@ is_a: MONDO:0016295 {source="DOID:0110721", source="MONDO:Redundant", source="NC intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9325 ! PPT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9325 {source="mim2gene_medgen"} ! PPT1 -relationship: excluded_subClassOf MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228329"} ! late infantile neuronal ceroid lipofuscinosis -relationship: excluded_subClassOf MONDO:0019260 {source="ORDO:79262/btnt", source="Orphanet:228329"} ! adult neuronal ceroid lipofuscinosis -relationship: excluded_subClassOf MONDO:0019261 {source="ORDO:79263/btnt", source="Orphanet:228329"} ! infantile neuronal ceroid lipofuscinosis -relationship: excluded_subClassOf MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228329"} ! juvenile neuronal ceroid lipofuscinosis +relationship: excluded_subClassOf MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228329"} ! late infantile neuronal ceroid lipofuscinosis +relationship: excluded_subClassOf MONDO:0019260 {source="Orphanet:228329", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis +relationship: excluded_subClassOf MONDO:0019261 {source="Orphanet:228329", source="Orphanet:79263/btnt"} ! infantile neuronal ceroid lipofuscinosis +relationship: excluded_subClassOf MONDO:0019262 {source="Orphanet:228329", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/2665 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 xsd:anyURI {source="GARD:0001219"} @@ -185909,9 +185875,9 @@ synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE: synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731] xref: DOID:0110728 {source="MONDO:equivalentTo"} xref: GARD:0001223 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:228360/attributed", source="ORDO:228360/ntbt", source="Orphanet:228360", source="DOID:0110728"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/attributed", source="Orphanet:228360/ntbt"} xref: MESH:C575534 {source="MONDO:equivalentTo"} -xref: OMIM:256731 {source="MONDO:equivalentTo", source="Orphanet:228360", source="ORDO:228360/e", source="DOID:0110728"} +xref: OMIM:256731 {source="MONDO:equivalentTo", source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/e"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:256731"} xref: Orphanet:228360 {source="MONDO:equivalentTo", source="OMIM:256731", source="DOID:0110728"} xref: UMLS:C1850442 {source="NCBI:mim2gene_medline", source="Orphanet:228360", source="MONDO:notFoundInDiseaseSubset", source="OMIM:256731"} @@ -185948,14 +185914,14 @@ synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design xref: DOID:0070146 {source="MONDO:equivalentTo"} xref: GARD:0003006 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:3006 {source="DOID:0070146"} -xref: ICD10CM:G60.8 {source="Orphanet:642", source="ORDO:642/attributed", source="ORDO:642/ntbt"} +xref: ICD10CM:G60.8 {source="Orphanet:642", source="Orphanet:642/attributed", source="Orphanet:642/ntbt"} xref: NCIT:C118633 {source="DOID:0070146", source="MONDO:equivalentTo"} -xref: OMIM:256800 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="ORDO:642/e"} +xref: OMIM:256800 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="Orphanet:642/e"} xref: Orphanet:642 {source="DOID:0070146", source="MONDO:equivalentTo", source="OMIM:256800"} xref: PMID:14272277 {source="DOID:0070146"} xref: PMID:8696348 {source="DOID:0070146"} xref: SCTID:62985007 {source="DOID:0070146", source="MONDO:equivalentTo"} -xref: UMLS:C0020074 {source="Orphanet:642", source="DOID:0070146", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118633", source="ORDO:642/e", source="OMIM:256800"} +xref: UMLS:C0020074 {source="Orphanet:642", source="DOID:0070146", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C118633", source="Orphanet:642/e", source="OMIM:256800"} is_a: MONDO:0015364 {source="DOID:0070146", source="OMIM:256800", source="Orphanet:642/inferred"} ! hereditary sensory and autonomic neuropathy is_a: MONDO:0015366 {source="Orphanet:642"} ! autosomal recessive hereditary sensory and autonomic neuropathy intersection_of: MONDO:0015364 ! hereditary sensory and autonomic neuropathy @@ -185978,9 +185944,9 @@ synonym: "NN" RELATED ABBREVIATION [GARD:0003972] xref: DOID:0080125 {source="MONDO:equivalentTo"} xref: GARD:0003972 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C538344 {source="MONDO:equivalentTo"} -xref: OMIM:256810 {source="DOID:0080125", source="MONDO:equivalentTo", source="Orphanet:255229", source="ORDO:255229/e"} +xref: OMIM:256810 {source="DOID:0080125", source="MONDO:equivalentTo", source="Orphanet:255229", source="Orphanet:255229/e"} xref: Orphanet:255229 {source="MONDO:equivalentTo", source="OMIM:256810"} -xref: UMLS:C1850406 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:255229", source="ORDO:255229/e", source="OMIM:256810"} +xref: UMLS:C1850406 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:255229", source="OMIM:256810", source="Orphanet:255229/e"} xref: UMLS:C1850407 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:256810"} is_a: MONDO:0004069 {source="DOID:0080125", source="MESH:C538344", source="OMIM:256810", source="OMIM:256810/inferred", source="Orphanet:255229/inferred"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0016808 {source="Orphanet:255229"} ! mitochondrial DNA depletion syndrome, hepatocerebral form @@ -185996,9 +185962,9 @@ subset: ordo_disease {source="Orphanet:139578"} synonym: "hereditary sensory and autonomic neuropathy with spastic paraplegia" EXACT CLINGEN_PREFERRED [] synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578] synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840] -xref: ICD10CM:G60.8 {source="Orphanet:139578", source="ORDO:139578/attributed", source="ORDO:139578/ntbt"} +xref: ICD10CM:G60.8 {source="Orphanet:139578", source="Orphanet:139578/attributed", source="Orphanet:139578/ntbt"} xref: MESH:C564948 {source="MONDO:equivalentTo"} -xref: OMIM:256840 {source="Orphanet:139578", source="ORDO:139578/e", source="MONDO:equivalentTo"} +xref: OMIM:256840 {source="Orphanet:139578", source="MONDO:equivalentTo", source="Orphanet:139578/e"} xref: Orphanet:139578 {source="MONDO:equivalentTo", source="OMIM:256840"} xref: SCTID:717827000 {source="MONDO:equivalentTo"} xref: UMLS:C1850395 {source="Orphanet:139578", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256840"} @@ -186026,9 +185992,9 @@ synonym: "giant axonal neuropathy-1" EXACT [OMIM:256850, OMIM:genemap2] synonym: "neuropathy, giant axonal" RELATED [GARD:0006500] xref: DOID:0090068 {source="MONDO:equivalentTo"} xref: GARD:0006500 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.8 {source="Orphanet:643", source="ORDO:643/attributed", source="ORDO:643/ntbt"} -xref: MESH:D056768 {source="MONDO:subClassOf", source="Orphanet:643", source="ORDO:643/e"} -xref: OMIM:256850 {source="Orphanet:643", source="MONDO:equivalentTo", source="DOID:0090068", source="ORDO:643/e"} +xref: ICD10CM:G60.8 {source="Orphanet:643", source="Orphanet:643/attributed", source="Orphanet:643/ntbt"} +xref: MESH:D056768 {source="MONDO:subClassOf", source="Orphanet:643", source="Orphanet:643/e"} +xref: OMIM:256850 {source="Orphanet:643", source="MONDO:equivalentTo", source="Orphanet:643/e", source="DOID:0090068"} xref: Orphanet:643 {source="MONDO:equivalentTo", source="OMIM:256850", source="DOID:0090068"} xref: UMLS:C1850386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256850"} is_a: MONDO:0000128 {source="DC-OMIM:256850", source="MONDO:Redundant", source="OMIM:256850"} ! giant axonal neuropathy @@ -186094,7 +186060,7 @@ xref: MESH:C564943 {source="MONDO:equivalentTo"} xref: OMIM:257100 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="MONDO:subClassOf", source="OMIM:257100"} xref: UMLS:C1850381 {source="NCBI:mim2gene_medline", source="OMIM:257100", source="MONDO:equivalentTo"} -is_a: MONDO:0008742 {source="ORDO:486/btnt"} ! autosomal dominant severe congenital neutropenia +is_a: MONDO:0008742 {source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia property_value: confidence "1.3823529411764706" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia xsd:anyURI {source="GARD:0006107"} @@ -186133,13 +186099,13 @@ synonym: "sphingomyelin lipidosis" RELATED [OMIM:257200] synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200] xref: DOID:0070111 {source="MONDO:equivalentTo"} xref: GARD:0007206 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="DOID:0070111", source="ORDO:77292/ntbt", source="Orphanet:77292", source="ORDO:77292/inclusion"} -xref: MESH:D052536 {source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"} +xref: ICD10CM:E75.2 {source="DOID:0070111", source="Orphanet:77292/inclusion", source="Orphanet:77292", source="Orphanet:77292/ntbt"} +xref: MESH:D052536 {source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: NCIT:C126561 {source="MONDO:equivalentTo"} -xref: OMIM:257200 {source="DOID:0070111", source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"} +xref: OMIM:257200 {source="DOID:0070111", source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: Orphanet:77292 {source="OMIM:257200", source="MONDO:equivalentTo"} xref: SCTID:52165006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268242 {source="NCIT:C126561", source="OMIM:257200", source="NCBI:mim2gene_medline", source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"} +xref: UMLS:C0268242 {source="NCIT:C126561", source="OMIM:257200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: UMLS:C2675646 {source="OMIM:257200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001982 {source="DC-OMIM:257200", source="DOID:0070111", source="MESH:D052536", source="NCIT:C126561", source="Orphanet:77292"} ! Niemann-Pick disease is_a: MONDO:0005328 ! eye disorder @@ -186248,12 +186214,12 @@ synonym: "Norman Roberts lissencephaly syndrome" RELATED [GARD:0003277] synonym: "Norman-Roberts syndrome" EXACT CLINGEN_PREFERRED [OMIM:257320] xref: DOID:0060902 {source="MONDO:equivalentTo"} xref: GARD:0003277 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:89844", source="ORDO:89844/attributed", source="ORDO:89844/ntbt", source="DOID:0060902"} -xref: MESH:C537848 {source="ORDO:89844/e", source="Orphanet:89844", source="DOID:0060902"} -xref: OMIM:257320 {source="ORDO:89844/e", source="Orphanet:89844", source="MONDO:equivalentTo", source="DOID:0060902"} +xref: ICD10CM:Q04.3 {source="Orphanet:89844", source="Orphanet:89844/attributed", source="Orphanet:89844/ntbt", source="DOID:0060902"} +xref: MESH:C537848 {source="Orphanet:89844", source="Orphanet:89844/e", source="DOID:0060902"} +xref: OMIM:257320 {source="Orphanet:89844", source="MONDO:equivalentTo", source="Orphanet:89844/e", source="DOID:0060902"} xref: Orphanet:89844 {source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"} xref: SCTID:717977003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796089 {source="ORDO:89844/e", source="Orphanet:89844", source="NCBI:mim2gene_medline", source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"} +xref: UMLS:C0796089 {source="Orphanet:89844", source="NCBI:mim2gene_medline", source="OMIM:257320", source="MONDO:equivalentTo", source="Orphanet:89844/e", source="DOID:0060902"} is_a: MONDO:0015204 {source="Orphanet:89844"} ! microlissencephaly is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:89844", source="Orphanet:89844/inferred"} ! genetic vascular anomaly is_a: MONDO:0018838 {source="DOID:0060902", source="MONDO:Redundant", source="OMIM:257320", source="Orphanet:89844/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lissencephaly spectrum disorders @@ -186278,12 +186244,12 @@ synonym: "nuchal bleb, familial" RELATED [OMIM:257350] xref: DOID:3081 {source="MONDO:equivalentTo", source="EFO:1000888"} xref: EFO:1000888 {source="MONDO:equivalentTo"} xref: GARD:0006234 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.1 {source="ORDO:79486/ntbt", source="Orphanet:79486"} +xref: ICD10CM:D18.1 {source="Orphanet:79486/ntbt", source="Orphanet:79486"} xref: ICDO:9173/0 {source="NCIT:C3724"} xref: MedDRA:10058949 {source="EFO:1000888"} xref: MESH:D018191 {source="MONDO:equivalentTo", source="DOID:3081", source="EFO:1000888"} xref: NCIT:C3724 {source="MONDO:equivalentTo", source="DOID:3081"} -xref: OMIM:257350 {source="MONDO:equivalentTo", source="ORDO:79486/e", source="Orphanet:79486", source="GARD:0006234"} +xref: OMIM:257350 {source="Orphanet:79486/e", source="MONDO:equivalentTo", source="Orphanet:79486", source="GARD:0006234"} xref: Orphanet:137923 {source="OMIM:257350"} xref: Orphanet:79486 {source="OMIM:257350", source="MONDO:equivalentTo"} xref: SCTID:399882002 {source="MONDO:equivalentTo", source="DOID:3081"} @@ -186339,13 +186305,13 @@ synonym: "oculomotor apraxia, congenital, Cogan-type" EXACT [OMIM:257550, OMIM:g synonym: "saccade initiation failure congenital" RELATED [GARD:0000016] synonym: "saccade initiation failure, congenital" RELATED [OMIM:257550] xref: GARD:0000016 {source="MONDO:equivalentTo"} -xref: ICD10CM:H51.8 {source="ORDO:1125/index", source="Orphanet:1125", source="ORDO:1125/ntbt"} -xref: MESH:C537423 {source="Orphanet:1125", source="ORDO:1125/e", source="MONDO:equivalentTo"} -xref: OMIM:257550 {source="Orphanet:1125", source="ORDO:1125/e", source="MONDO:equivalentTo", source="GARD:0000016"} +xref: ICD10CM:H51.8 {source="Orphanet:1125/ntbt", source="Orphanet:1125", source="Orphanet:1125/index"} +xref: MESH:C537423 {source="Orphanet:1125", source="MONDO:equivalentTo", source="Orphanet:1125/e"} +xref: OMIM:257550 {source="Orphanet:1125", source="MONDO:equivalentTo", source="GARD:0000016", source="Orphanet:1125/e"} xref: Orphanet:1125 {source="OMIM:257550", source="MONDO:equivalentTo", source="GARD:0000016"} xref: SCTID:405809000 {source="MONDO:equivalentTo"} xref: UMLS:C0271270 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0543874 {source="OMIM:257550", source="Orphanet:1125", source="ORDO:1125/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0543874 {source="OMIM:257550", source="Orphanet:1125", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1125/e"} is_a: MONDO:0015368 {source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! neuro-ophthalmological disease relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "5.0" xsd:double @@ -186384,13 +186350,13 @@ synonym: "Kramer syndrome" RELATED [GARD:0000105, OMIM:257800] synonym: "oculocerebral hypopigmentation syndrome" RELATED [GARD:0000105] synonym: "oculocerebral syndrome with hypopigmentation" RELATED [OMIM:257800] xref: GARD:0000105 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="ORDO:2719/inclusion", source="ORDO:2719/ntbt", source="Orphanet:2719"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:2719/ntbt", source="Orphanet:2719/inclusion", source="Orphanet:2719"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:257800 {source="GARD:0000105", source="MONDO:equivalentTo", source="Orphanet:2719", source="ORDO:2719/e"} +xref: OMIM:257800 {source="Orphanet:2719/e", source="GARD:0000105", source="MONDO:equivalentTo", source="Orphanet:2719"} xref: Orphanet:2719 {source="GARD:0000105", source="MONDO:equivalentTo", source="OMIM:257800"} xref: SCTID:17827007 {source="MONDO:equivalentTo"} -xref: UMLS:C0268496 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:257800", source="Orphanet:2719", source="ORDO:2719/e"} -xref: UMLS:C2936910 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:257800", source="Orphanet:2719", source="ORDO:2719/e"} +xref: UMLS:C0268496 {source="Orphanet:2719/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:257800", source="Orphanet:2719"} +xref: UMLS:C2936910 {source="Orphanet:2719/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:257800", source="Orphanet:2719"} is_a: MONDO:0017305 {source="Orphanet:2719"} ! syndromic oculocutaneous albinism is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2719", source="Orphanet:2719/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -186412,7 +186378,7 @@ xref: MESH:C567605 {source="MONDO:equivalentTo"} xref: OMIM:257850 {source="MONDO:equivalentTo"} xref: Orphanet:2710 {source="MONDO:subClassOf", source="OMIM:257850"} xref: UMLS:C2749477 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257850"} -is_a: MONDO:0008111 {source="MONDO:Redundant", source="ORDO:2710/btnt"} ! oculodentodigital dysplasia +is_a: MONDO:0008111 {source="MONDO:Redundant", source="Orphanet:2710/btnt"} ! oculodentodigital dysplasia intersection_of: MONDO:0008111 ! oculodentodigital dysplasia intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4274 {source="mim2gene_medgen"} ! GJA1 @@ -186427,9 +186393,9 @@ synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714] synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910] synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910] synonym: "OPC dwarfism" RELATED [OMIM:257910] -xref: ICD10CM:Q87.1 {source="ORDO:2714/attributed", source="ORDO:2714/ntbt", source="Orphanet:2714"} +xref: ICD10CM:Q87.1 {source="Orphanet:2714/attributed", source="Orphanet:2714/ntbt", source="Orphanet:2714"} xref: MESH:C564935 {source="MONDO:equivalentTo"} -xref: OMIM:257910 {source="MONDO:equivalentTo", source="ORDO:2714/e", source="Orphanet:2714"} +xref: OMIM:257910 {source="Orphanet:2714/e", source="MONDO:equivalentTo", source="Orphanet:2714"} xref: Orphanet:2714 {source="MONDO:equivalentTo", source="OMIM:257910"} xref: SCTID:722055008 {source="MONDO:equivalentTo"} xref: UMLS:C1850338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257910", source="Orphanet:2714"} @@ -186474,7 +186440,7 @@ synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718] synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257960] xref: MESH:C564934 {source="MONDO:equivalentTo"} -xref: OMIM:257960 {source="MONDO:equivalentTo", source="ORDO:2718/e", source="Orphanet:2718"} +xref: OMIM:257960 {source="Orphanet:2718/e", source="MONDO:equivalentTo", source="Orphanet:2718"} xref: Orphanet:2718 {source="MONDO:equivalentTo", source="OMIM:257960"} xref: SCTID:722062004 {source="MONDO:equivalentTo"} xref: UMLS:C1850332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:257960", source="Orphanet:2718"} @@ -186511,13 +186477,13 @@ synonym: "ectodermal dysplasia" EXACT [OMIM:257980] synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980] synonym: "OODD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:257980, Orphanet:2721] xref: GARD:0004054 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="ORDO:2721/attributed", source="ORDO:2721/ntbt", source="Orphanet:2721"} -xref: MESH:C537742 {source="ORDO:2721/e", source="MONDO:equivalentTo", source="Orphanet:2721"} -xref: OMIM:257980 {source="ORDO:2721/e", source="MONDO:equivalentTo", source="Orphanet:2721"} +xref: ICD10CM:Q82.4 {source="Orphanet:2721", source="Orphanet:2721/attributed", source="Orphanet:2721/ntbt"} +xref: MESH:C537742 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} +xref: OMIM:257980 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} xref: Orphanet:2721 {source="OMIM:257980", source="MONDO:equivalentTo"} xref: SCTID:403762003 {source="MONDO:equivalentTo"} xref: UMLS:C0796093 {source="NCBI:mim2gene_medline", source="OMIM:257980", source="MONDO:equivalentTo", source="Orphanet:2721"} -xref: UMLS:C1275074 {source="ORDO:2721/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2721"} +xref: UMLS:C1275074 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2721", source="Orphanet:2721/e"} is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="MESH:C537742", source="Orphanet:2721", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13829 {source="mim2gene_medgen"} ! WNT10A @@ -186543,12 +186509,12 @@ synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [OMIM:2 xref: DOID:0080175 {source="MONDO:equivalentTo"} xref: GARD:0004080 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0010475 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q64.1 {source="Orphanet:93929", source="ORDO:93929/attributed", source="ORDO:93929/ntbt"} +xref: ICD10CM:Q64.1 {source="Orphanet:93929/attributed", source="Orphanet:93929/ntbt", source="Orphanet:93929"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10067424 {source="Orphanet:93929", source="ORDO:93929/e"} +xref: MedDRA:10067424 {source="Orphanet:93929", source="Orphanet:93929/e"} xref: MESH:C537748 {source="MONDO:equivalentTo"} xref: NCIT:C99142 {source="MONDO:subClassOf"} -xref: OMIM:258040 {source="MONDO:relatedTo", source="Orphanet:93929", source="ORDO:93929/e"} +xref: OMIM:258040 {source="MONDO:relatedTo", source="Orphanet:93929", source="Orphanet:93929/e"} xref: Orphanet:322 {source="MONDO:subClassOf", source="OMIM:258040"} xref: Orphanet:93929 {source="MONDO:equivalentTo", source="OMIM:258040"} xref: SCTID:20815007 {source="MONDO:equivalentTo"} @@ -186596,7 +186562,7 @@ xref: Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"} xref: SCTID:236803007 {source="MONDO:equivalentTo"} xref: UMLS:C0403810 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258150"} is_a: MONDO:0004983 {source="DC-OMIM:258150", source="OMIM:258150"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation property_value: confidence "0.18928571428571428" xsd:double [Term] @@ -186610,9 +186576,9 @@ synonym: "postaxial polydactyly and intellectual disability" RELATED [OMIM:25820 synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [OMIM:258200] synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920] xref: GARD:0004069 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:2920/attributed", source="ORDO:2920/ntbt", source="Orphanet:2920"} +xref: ICD10CM:Q87.2 {source="Orphanet:2920", source="Orphanet:2920/attributed", source="Orphanet:2920/ntbt"} xref: MESH:C564931 {source="MONDO:equivalentTo"} -xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="ORDO:2920/e"} +xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="Orphanet:2920/e"} xref: Orphanet:2920 {source="OMIM:258200", source="MONDO:equivalentTo"} xref: SCTID:721017000 {source="MONDO:equivalentTo"} xref: UMLS:C1850320 {source="NCBI:mim2gene_medline", source="OMIM:258200", source="MONDO:equivalentTo", source="Orphanet:2920"} @@ -186649,8 +186615,8 @@ synonym: "omodysplasia type 1" EXACT [MONDORULE:1, OMIM:258315] synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:258315] synonym: "omodysplasia, generalized form" RELATED [OMIM:258315] xref: GARD:0004076 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:93329/attributed", source="ORDO:93329/ntbt", source="Orphanet:93329"} -xref: OMIM:258315 {source="MONDO:equivalentTo", source="ORDO:93329/e", source="Orphanet:93329"} +xref: ICD10CM:Q78.8 {source="Orphanet:93329/attributed", source="Orphanet:93329/ntbt", source="Orphanet:93329"} +xref: OMIM:258315 {source="Orphanet:93329/e", source="MONDO:equivalentTo", source="Orphanet:93329"} xref: Orphanet:2733 {source="MONDO:subClassOf", source="OMIM:258315"} xref: Orphanet:93329 {source="MONDO:equivalentTo", source="OMIM:258315"} xref: SCTID:725166005 {source="MONDO:equivalentTo"} @@ -186673,12 +186639,12 @@ synonym: "Czeizel syndrome" EXACT [Orphanet:2736] synonym: "omphalocele cleft palate syndrome lethal" RELATED [GARD:0004079] synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [OMIM:258320] xref: GARD:0004079 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2736/attributed", source="ORDO:2736/ntbt", source="Orphanet:2736"} -xref: MESH:C537747 {source="MONDO:equivalentTo", source="ORDO:2736/e", source="Orphanet:2736"} -xref: OMIM:258320 {source="MONDO:equivalentTo", source="ORDO:2736/e", source="Orphanet:2736"} +xref: ICD10CM:Q87.8 {source="Orphanet:2736/attributed", source="Orphanet:2736/ntbt", source="Orphanet:2736"} +xref: MESH:C537747 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"} +xref: OMIM:258320 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"} xref: Orphanet:2736 {source="OMIM:258320", source="MONDO:equivalentTo"} xref: SCTID:719408007 {source="MONDO:equivalentTo"} -xref: UMLS:C1850317 {source="OMIM:258320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2736/e", source="Orphanet:2736"} +xref: UMLS:C1850317 {source="Orphanet:2736/e", source="OMIM:258320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2736"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2736", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2736"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015216 {source="Orphanet:2736"} ! syndromic diaphragmatic or abdominal wall malformation @@ -186731,7 +186697,7 @@ xref: Orphanet:254886 {source="MONDO:subClassOf", source="OMIM:258450", source=" xref: UMLS:C1850303 {source="OMIM:258450", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4225153 {source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="DC-OMIM:258450", source="OMIM:258450"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0016810 {source="MONDO:Redundant", source="ORDO:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia +is_a: MONDO:0016810 {source="MONDO:Redundant", source="Orphanet:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia intersection_of: MONDO:0016810 ! autosomal recessive progressive external ophthalmoplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9179 ! POLG intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -186758,12 +186724,12 @@ synonym: "OPSISMODYSPLASIA" RELATED ABBREVIATION [OMIM:258480] synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480] synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258480] xref: GARD:0004098 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:2746/attributed", source="ORDO:2746/ntbt", source="Orphanet:2746"} -xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="ORDO:2746/e"} -xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="ORDO:2746/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:2746", source="Orphanet:2746/attributed", source="Orphanet:2746/ntbt"} +xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} +xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} xref: Orphanet:2746 {source="MONDO:equivalentTo", source="OMIM:258480"} xref: SCTID:254068007 {source="MONDO:equivalentTo"} -xref: UMLS:C0432219 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2746", source="ORDO:2746/e", source="OMIM:258480"} +xref: UMLS:C0432219 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e", source="OMIM:258480"} is_a: MONDO:0019694 {source="Orphanet:2746"} ! spondylodysplastic dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6080 {source="mim2gene_medgen"} ! INPPL1 property_value: confidence "4.277777777777778" xsd:double @@ -186781,7 +186747,7 @@ xref: MESH:C537127 {source="MONDO:equivalentTo"} xref: OMIM:258500 {source="MONDO:equivalentTo"} xref: Orphanet:99012 {source="MONDO:equivalentObsolete", source="OMIM:258500"} xref: UMLS:C1850281 {source="NCBI:mim2gene_medline", source="OMIM:258500", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0014753 {source="ORDO:98676/btnt"} ! autosomal recessive optic atrophy +is_a: MONDO:0014753 {source="Orphanet:98676/btnt"} ! autosomal recessive optic atrophy is_a: MONDO:0043878 {source="MESH:C537127/inferred", source="MONDO:Redundant", source="OMIM:258500", source="indirect"} ! hereditary optic atrophy property_value: confidence "0.0" xsd:double @@ -186816,12 +186782,12 @@ synonym: "optic atrophy plus syndrome" RELATED [OMIM:258501] synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [OMIM:258501] xref: DOID:0110004 {source="MONDO:equivalentTo"} xref: GARD:0005663 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:67047/attributed", source="ORDO:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"} -xref: MESH:C535311 {source="MONDO:equivalentTo", source="ORDO:67047/e", source="Orphanet:67047"} -xref: OMIM:258501 {source="MONDO:equivalentTo", source="ORDO:67047/e", source="DOID:0110004", source="Orphanet:67047"} +xref: ICD10CM:E71.1 {source="Orphanet:67047/attributed", source="Orphanet:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"} +xref: MESH:C535311 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="Orphanet:67047"} +xref: OMIM:258501 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="DOID:0110004", source="Orphanet:67047"} xref: Orphanet:67047 {source="MONDO:equivalentTo", source="OMIM:258501", source="DOID:0110004"} xref: SCTID:297232009 {source="MONDO:equivalentTo"} -xref: UMLS:C0574084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258501", source="ORDO:67047/e", source="Orphanet:67047"} +xref: UMLS:C0574084 {source="NCBI:mim2gene_medline", source="Orphanet:67047/e", source="MONDO:equivalentTo", source="OMIM:258501", source="Orphanet:67047"} is_a: MONDO:0017359 {source="DC-OMIM:258501", source="DOID:0110004", source="MONDO:Redundant", source="OMIM:258501", source="Orphanet:67047", source="linkedlifedata"} ! 3-methylglutaconic aciduria is_a: MONDO:0018609 {source="Orphanet:67047"} ! syndromic hereditary optic neuropathy intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria @@ -186890,9 +186856,9 @@ synonym: "oral and digital anomalies with ichthyosis" RELATED [OMIM:258840] synonym: "unusual facies, digital abnormalities, and ichthyosis" RELATED [GARD:0002960] xref: GARD:0002960 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C536272 {source="MONDO:equivalentTo"} -xref: OMIM:258840 {source="MONDO:equivalentTo", source="Orphanet:2272", source="ORDO:2272/e"} +xref: OMIM:258840 {source="Orphanet:2272/e", source="MONDO:equivalentTo", source="Orphanet:2272"} xref: Orphanet:2272 {source="MONDO:equivalentTo", source="OMIM:258840"} -xref: UMLS:C1850268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258840", source="Orphanet:2272", source="ORDO:2272/e"} +xref: UMLS:C1850268 {source="Orphanet:2272/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258840", source="Orphanet:2272"} is_a: MONDO:0015161 {source="Orphanet:2272", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2272"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -186918,12 +186884,12 @@ synonym: "orofaciodigital syndrome type III" EXACT [DOID:0060373, MONDORULE:3] synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850, Orphanet:2752] xref: DOID:0060373 {source="MONDO:equivalentTo"} xref: GARD:0010518 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2752", source="ORDO:2752/attributed", source="ORDO:2752/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2752/attributed", source="Orphanet:2752/ntbt", source="Orphanet:2752"} xref: MESH:C557817 {source="DOID:0060373", source="MONDO:equivalentTo"} -xref: OMIM:258850 {source="DOID:0060373", source="ORDO:2752/e", source="Orphanet:2752", source="MONDO:equivalentTo"} +xref: OMIM:258850 {source="DOID:0060373", source="Orphanet:2752", source="MONDO:equivalentTo", source="Orphanet:2752/e"} xref: Orphanet:2752 {source="DOID:0060373", source="OMIM:258850", source="MONDO:equivalentTo"} xref: SCTID:239030004 {source="DOID:0060373", source="MONDO:equivalentTo"} -xref: UMLS:C0406726 {source="DOID:0060373", source="ORDO:2752/e", source="OMIM:258850", source="NCBI:mim2gene_medline", source="Orphanet:2752", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0406726 {source="DOID:0060373", source="OMIM:258850", source="NCBI:mim2gene_medline", source="Orphanet:2752", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2752/e"} is_a: MONDO:0000508 {source="Orphanet:2752"} ! syndromic intellectual disability is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752", source="linkedlifedata"} ! orofaciodigital syndrome is_a: MONDO:0019589 {source="Orphanet:2752"} ! syndromic genetic hearing loss @@ -186955,12 +186921,12 @@ synonym: "orofaciodigital syndrome type IV" EXACT [DOID:0060374, MONDORULE:3] synonym: "orofaciodigital syndrome with tibial dysplasia" RELATED [GARD:0000816] xref: DOID:0060374 {source="MONDO:equivalentTo"} xref: GARD:0000816 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2753", source="ORDO:2753/attributed", source="ORDO:2753/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2753/attributed", source="Orphanet:2753/ntbt", source="Orphanet:2753"} xref: MESH:C537133 {source="DOID:0060374", source="MONDO:equivalentTo"} -xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="ORDO:2753/e", source="MONDO:equivalentTo"} +xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="MONDO:equivalentTo", source="Orphanet:2753/e"} xref: Orphanet:2753 {source="DOID:0060374", source="OMIM:258860", source="MONDO:equivalentTo"} xref: SCTID:239031000 {source="DOID:0060374", source="MONDO:equivalentTo"} -xref: UMLS:C0406727 {source="DOID:0060374", source="Orphanet:2753", source="NCBI:mim2gene_medline", source="OMIM:258860", source="ORDO:2753/e", source="MONDO:equivalentTo"} +xref: UMLS:C0406727 {source="DOID:0060374", source="Orphanet:2753", source="NCBI:mim2gene_medline", source="OMIM:258860", source="MONDO:equivalentTo", source="Orphanet:2753/e"} is_a: MONDO:0000508 {source="Orphanet:2753"} ! syndromic intellectual disability is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753", source="linkedlifedata"} ! orofaciodigital syndrome is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation @@ -186993,12 +186959,12 @@ synonym: "orofaciodigital syndrome type IX" EXACT [DOID:0060382, MONDORULE:3] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [DOID:0060382, OMIM:258865, Orphanet:141007] xref: DOID:0060382 {source="MONDO:equivalentTo"} xref: GARD:0010520 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:141007/attributed", source="ORDO:141007/ntbt", source="Orphanet:141007"} +xref: ICD10CM:Q87.0 {source="Orphanet:141007", source="Orphanet:141007/attributed", source="Orphanet:141007/ntbt"} xref: MESH:C557818 {source="MONDO:equivalentTo", source="DOID:0060382"} -xref: OMIM:258865 {source="MONDO:equivalentTo", source="Orphanet:141007", source="ORDO:141007/e", source="DOID:0060382"} +xref: OMIM:258865 {source="Orphanet:141007/e", source="MONDO:equivalentTo", source="Orphanet:141007", source="DOID:0060382"} xref: Orphanet:141007 {source="MONDO:equivalentTo", source="OMIM:258865", source="DOID:0060382"} xref: SCTID:718680001 {source="MONDO:equivalentTo"} -xref: UMLS:C0796102 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258865", source="Orphanet:141007", source="ORDO:141007/e", source="DOID:0060382"} +xref: UMLS:C0796102 {source="Orphanet:141007/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:258865", source="Orphanet:141007", source="DOID:0060382"} is_a: MONDO:0015375 {source="DC-OMIM:258865", source="DOID:0060382", source="MESH:C557818", source="Orphanet:141007", source="linkedlifedata"} ! orofaciodigital syndrome property_value: confidence "49.000000000000185" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 xsd:anyURI {source="GARD:0010520"} @@ -187036,19 +187002,19 @@ synonym: "Ornithinemia with gyrate atrophy" EXACT [DOID:1415] xref: DOID:1415 {source="MONDO:equivalentTo"} xref: GARD:0006556 {source="MONDO:equivalentTo"} xref: GARD:0007272 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:E72.4 {source="Orphanet:414", source="ORDO:414/attributed", source="ORDO:414/ntbt"} -xref: MESH:C537132 {source="ORDO:414/e", source="Orphanet:414"} +xref: ICD10CM:E72.4 {source="Orphanet:414", source="Orphanet:414/attributed", source="Orphanet:414/ntbt"} +xref: MESH:C537132 {source="Orphanet:414", source="Orphanet:414/e"} xref: MESH:C538071 {source="MONDO:equivalentTo"} xref: MESH:D015799 {source="MONDO:equivalentTo", source="DOID:1415"} xref: NCIT:C84744 {source="MONDO:equivalentTo", source="DOID:1415"} -xref: OMIM:258870 {source="GARD:0006556", source="ORDO:414/e", source="Orphanet:414", source="MONDO:equivalentTo", source="DOID:1415"} +xref: OMIM:258870 {source="GARD:0006556", source="Orphanet:414", source="MONDO:equivalentTo", source="Orphanet:414/e", source="DOID:1415"} xref: Orphanet:414 {source="GARD:0006556", source="OMIM:258870", source="MONDO:equivalentTo"} xref: SCTID:314466003 {source="DOID:1415"} xref: SCTID:314467007 {source="DOID:1415"} xref: SCTID:367536002 {source="DOID:1415"} xref: SCTID:87126009 {source="DOID:1415"} xref: UMLS:C0018425 {source="NCIT:C84744", source="Orphanet:414", source="MONDO:equivalentTo", source="DOID:1415"} -xref: UMLS:C0599035 {source="ORDO:414/e", source="Orphanet:414", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0599035 {source="Orphanet:414", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:414/e"} xref: UMLS:C1417917 {source="OMIM:258870", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001898 {source="DOID:1415", source="MESH:D015799"} ! optic choroid disorder is_a: MONDO:0005328 ! eye disorder @@ -187087,16 +187053,16 @@ synonym: "uridine monophosphate synthase deficiency" RELATED [OMIM:258900] synonym: "uridine monophosphate synthetase deficiency" EXACT [Orphanet:30] xref: DOID:0050833 {source="MONDO:equivalentTo"} xref: GARD:0005429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E79.8 {source="ORDO:30/index", source="ORDO:30/ntbt", source="Orphanet:30"} -xref: MedDRA:10052621 {source="Orphanet:30", source="ORDO:30/e"} -xref: MESH:C537136 {source="Orphanet:30", source="ORDO:30/e"} +xref: ICD10CM:E79.8 {source="Orphanet:30/index", source="Orphanet:30/ntbt", source="Orphanet:30"} +xref: MedDRA:10052621 {source="Orphanet:30/e", source="Orphanet:30"} +xref: MESH:C537136 {source="Orphanet:30/e", source="Orphanet:30"} xref: NCIT:C98944 {source="MONDO:equivalentTo"} -xref: OMIM:258900 {source="MONDO:equivalentTo", source="DOID:0050833", source="Orphanet:30", source="ORDO:30/e"} +xref: OMIM:258900 {source="Orphanet:30/e", source="MONDO:equivalentTo", source="DOID:0050833", source="Orphanet:30"} xref: Orphanet:30 {source="MONDO:equivalentTo", source="OMIM:258900"} xref: SCTID:47641009 {source="MONDO:equivalentTo"} -xref: UMLS:C0220987 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:30", source="ORDO:30/e"} +xref: UMLS:C0220987 {source="Orphanet:30/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:30"} xref: UMLS:C0268128 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0268130 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:258900", source="Orphanet:30", source="ORDO:30/e"} +xref: UMLS:C0268130 {source="Orphanet:30/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:258900", source="Orphanet:30"} xref: UMLS:C3278622 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:258900"} is_a: MONDO:0019052 {source="DOID:0050833/inferred", source="NCIT:C98944", source="Orphanet:30/inferred"} ! inborn errors of metabolism is_a: MONDO:0019238 {source="DOID:0050833", source="Orphanet:30"} ! inborn disorder of pyrimidine metabolism @@ -187113,9 +187079,9 @@ synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BO synonym: "primrose syndrome" EXACT [OMIM:259050, Orphanet:3042] synonym: "PRIMS" RELATED ABBREVIATION [OMIM:259050] xref: GARD:0004488 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3042", source="ORDO:3042/attributed", source="ORDO:3042/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3042/attributed", source="Orphanet:3042/ntbt", source="Orphanet:3042"} xref: MESH:C536420 {source="MONDO:equivalentTo"} -xref: OMIM:259050 {source="MONDO:equivalentTo", source="Orphanet:3042", source="ORDO:3042/e"} +xref: OMIM:259050 {source="Orphanet:3042/e", source="MONDO:equivalentTo", source="Orphanet:3042"} xref: Orphanet:3042 {source="MONDO:equivalentTo", source="OMIM:259050"} xref: SCTID:726709001 {source="MONDO:equivalentTo"} xref: UMLS:C0796121 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3042", source="OMIM:259050"} @@ -187142,7 +187108,7 @@ xref: OMIM:259200 {source="MONDO:equivalentTo"} xref: Orphanet:2768 {source="MONDO:subClassOf", source="OMIM:259200"} xref: UMLS:C0220757 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3151572 {source="OMIM:259200", source="MONDO:equivalentTo"} -is_a: MONDO:0017194 {source="ORDO:2768/btnt"} ! Blount disease +is_a: MONDO:0017194 {source="Orphanet:2768/btnt"} ! Blount disease property_value: confidence "0.9259259259259258" xsd:double [Term] @@ -187155,7 +187121,7 @@ synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136] synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250] xref: GARD:0004136 {source="MONDO:equivalentTo"} xref: MESH:C564923 {source="MONDO:equivalentTo"} -xref: OMIM:259250 {source="MONDO:equivalentTo", source="ORDO:2769/e", source="Orphanet:2769"} +xref: OMIM:259250 {source="Orphanet:2769/e", source="MONDO:equivalentTo", source="Orphanet:2769"} xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"} xref: UMLS:C1850186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2769", source="OMIM:259250"} is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin @@ -187182,11 +187148,11 @@ name: congenital osteogenesis imperfecta-microcephaly-cataracts syndrome def: "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." [Orphanet:2772] subset: ordo_malformation_syndrome {source="Orphanet:2772"} synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [OMIM:259410] -xref: ICD10CM:Q78.0 {source="Orphanet:2772", source="ORDO:2772/attributed", source="ORDO:2772/ntbt", source="MONDO:directSiblingOf"} -xref: MESH:C537558 {source="ORDO:2772/e", source="Orphanet:2772", source="MONDO:equivalentTo"} -xref: OMIM:259410 {source="ORDO:2772/e", source="Orphanet:2772", source="MONDO:equivalentTo"} +xref: ICD10CM:Q78.0 {source="Orphanet:2772/attributed", source="Orphanet:2772/ntbt", source="Orphanet:2772", source="MONDO:directSiblingOf"} +xref: MESH:C537558 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"} +xref: OMIM:259410 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"} xref: Orphanet:2772 {source="OMIM:259410", source="MONDO:equivalentTo"} -xref: UMLS:C1850184 {source="ORDO:2772/e", source="Orphanet:2772", source="NCBI:mim2gene_medline", source="OMIM:259410", source="MONDO:equivalentTo"} +xref: UMLS:C1850184 {source="Orphanet:2772", source="NCBI:mim2gene_medline", source="OMIM:259410", source="MONDO:equivalentTo", source="Orphanet:2772/e"} is_a: MONDO:0003847 {source="OMIM:259410"} ! Mendelian disease relationship: disease_has_feature HP:0004349 {source="Orphanet:2772"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2772"} ! obsolete primary bone dysplasia with decreased bone density @@ -187216,22 +187182,22 @@ synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EX synonym: "severe osteogenesis imperfecta" EXACT [Orphanet:216812] xref: DOID:0110339 {source="MONDO:equivalentTo"} xref: GARD:0008695 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="DOID:0110339", source="Orphanet:216812", source="ORDO:216812/attributed", source="ORDO:216812/ntbt"} -xref: MESH:C536044 {source="ORDO:216812/e", source="Orphanet:216812", source="MONDO:equivalentTo"} +xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216812/attributed", source="Orphanet:216812/ntbt", source="DOID:0110339", source="Orphanet:216812"} +xref: MESH:C536044 {source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} xref: NCIT:C99002 {source="MONDO:equivalentTo"} -xref: OMIM:259420 {source="ORDO:216812/e", source="DOID:0110339", source="Orphanet:216812", source="MONDO:equivalentTo"} -xref: OMIM:259440 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:610682 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:610915 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:610968 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:613848 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:613982 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:614856 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:615220 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:616229 {source="Orphanet:216812", source="ORDO:216812/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:259420 {source="DOID:0110339", source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} +xref: OMIM:259440 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:610682 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:610915 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:610968 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:613848 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:613982 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:614856 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:615220 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} +xref: OMIM:616229 {source="Orphanet:216812/btnt", source="Orphanet:216812", source="MONDO:directSiblingOf"} xref: Orphanet:216812 {source="OMIM:259420", source="MONDO:equivalentTo"} xref: SCTID:385483009 {source="MONDO:equivalentTo"} -xref: UMLS:C0268362 {source="OMIM:259420", source="ORDO:216812/e", source="NCBI:mim2gene_medline", source="Orphanet:216812", source="MONDO:equivalentTo", source="NCIT:C99002"} +xref: UMLS:C0268362 {source="OMIM:259420", source="NCBI:mim2gene_medline", source="Orphanet:216812", source="MONDO:equivalentTo", source="NCIT:C99002", source="Orphanet:216812/e"} is_a: MONDO:0000001 {source="MONDO:0015669-obsoleted"} ! disease or disorder is_a: MONDO:0019019 {source="DC-OMIM:259420", source="DOID:0110339", source="MESH:C536044", source="NCIT:C99002", source="OMIM:259420", source="Orphanet:216812", source="linkedlifedata"} ! osteogenesis imperfecta property_value: confidence "1.2566407969820799" xsd:double @@ -187368,7 +187334,7 @@ synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776] xref: GARD:0004144 {source="MONDO:equivalentTo"} xref: GARD:0004299 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C536052 {source="MONDO:equivalentTo"} -xref: OMIM:259610 {source="ORDO:2776/e", source="MONDO:equivalentTo", source="Orphanet:2776", source="GARD:0004144"} +xref: OMIM:259610 {source="MONDO:equivalentTo", source="Orphanet:2776", source="Orphanet:2776/e", source="GARD:0004144"} xref: Orphanet:2776 {source="MONDO:equivalentTo", source="OMIM:259610"} xref: SCTID:715487005 {source="MONDO:equivalentTo"} xref: UMLS:C1850143 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:259610", source="GARD:0004144"} @@ -187413,10 +187379,10 @@ synonym: "osteomyelitis, chronic multifocal" RELATED [OMIM:259680] xref: DOID:0060645 {source="MONDO:equivalentTo"} xref: GARD:0006108 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0002754 {source="MONDO:otherHierarchy"} -xref: ICD10CM:M86.3 {source="ORDO:324964/e", source="Orphanet:324964", source="DOID:0060645"} +xref: ICD10CM:M86.3 {source="Orphanet:324964", source="DOID:0060645", source="Orphanet:324964/e"} xref: MESH:C535456 {source="MONDO:equivalentTo"} xref: NCIT:C119042 {source="MONDO:equivalentTo"} -xref: OMIM:259680 {source="ORDO:324964/e", source="Orphanet:324964", source="MONDO:equivalentTo"} +xref: OMIM:259680 {source="Orphanet:324964", source="MONDO:equivalentTo", source="Orphanet:324964/e"} xref: Orphanet:324964 {source="MONDO:equivalentTo", source="DOID:0060645", source="OMIM:259680"} xref: SCTID:240151005 {source="MONDO:equivalentTo"} xref: UMLS:C0410422 {source="NCBI:mim2gene_medline", source="Orphanet:324964", source="MONDO:equivalentTo", source="NCIT:C119042", source="OMIM:259680"} @@ -187437,11 +187403,11 @@ synonym: "osteopenia and sparse hair" RELATED [OMIM:259690] synonym: "osteopenia intellectual disability sparse hair" RELATED [GARD:0000354] synonym: "osteopenia mental retardation sparse hair" RELATED DEPRECATED [GARD:0000354] xref: GARD:0000354 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C537706 {source="Orphanet:2324", source="ORDO:2324/e", source="MONDO:equivalentTo"} -xref: OMIM:259690 {source="Orphanet:2324", source="ORDO:2324/e", source="MONDO:equivalentTo"} +xref: MESH:C537706 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"} +xref: OMIM:259690 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"} xref: Orphanet:2324 {source="MONDO:equivalentTo", source="OMIM:259690"} xref: SCTID:732954002 {source="MONDO:equivalentTo"} -xref: UMLS:C1850140 {source="Orphanet:2324", source="NCBI:mim2gene_medline", source="ORDO:2324/e", source="MONDO:equivalentTo", source="OMIM:259690"} +xref: UMLS:C1850140 {source="Orphanet:2324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2324/e", source="OMIM:259690"} is_a: MONDO:0000508 {source="Orphanet:2324"} ! syndromic intellectual disability relationship: disease_has_feature HP:0004349 {source="Orphanet:2324"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2324"} ! obsolete primary bone dysplasia with decreased bone density @@ -187477,7 +187443,7 @@ xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:subClassOf", source="OMIM:259700"} xref: UMLS:C1850127 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:259700"} is_a: MONDO:0017198 {source="DOID:0110942", source="MONDO:0009815/inferred", source="MONDO:Redundant", source="OMIM:259700", source="indirect"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11647 ! TCIRG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11647 {source="mim2gene_medgen"} ! TCIRG1 @@ -187511,7 +187477,7 @@ xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:subClassOf", source="OMIM:259710"} xref: UMLS:C1850126 {source="NCBI:mim2gene_medline", source="OMIM:259710", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017198 {source="DOID:0110943", source="MONDO:Redundant", source="OMIM:259710", source="indirect"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11926 ! TNFSF11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11926 {source="mim2gene_medgen"} ! TNFSF11 @@ -187577,12 +187543,12 @@ synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:25 synonym: "renal tubular acidosis type 3" EXACT [Orphanet:2785] xref: DOID:0110941 {source="MONDO:equivalentTo"} xref: GARD:0004154 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.2 {source="Orphanet:2785", source="ORDO:2785/attributed", source="ORDO:2785/ntbt"} +xref: ICD10CM:Q78.2 {source="Orphanet:2785/attributed", source="Orphanet:2785/ntbt", source="Orphanet:2785"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536058 {source="ORDO:2785/e", source="Orphanet:2785", source="MONDO:equivalentTo"} +xref: MESH:C536058 {source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"} xref: NCIT:C118438 {source="MONDO:equivalentTo"} -xref: OMIM:259730 {source="DOID:0110941", source="ORDO:2785/e", source="Orphanet:2785", source="MONDO:equivalentTo"} -xref: OMIM:267200 {source="Orphanet:2785", source="MONDO:superClassOf", source="ORDO:2785/btnt"} +xref: OMIM:259730 {source="DOID:0110941", source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"} +xref: OMIM:267200 {source="Orphanet:2785/btnt", source="Orphanet:2785", source="MONDO:superClassOf"} xref: Orphanet:2785 {source="OMIM:259730", source="MONDO:equivalentTo"} xref: SCTID:254122007 {source="MONDO:equivalentTo"} xref: UMLS:C0345407 {source="OMIM:259730", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -187619,13 +187585,13 @@ synonym: "osteoporosis-pseudoglioma syndrome" EXACT [MONDO:Lexical, OMIM:259770] synonym: "pseudoglioma with bone fragility" RELATED [GARD:0004160] xref: DOID:0060849 {source="MONDO:equivalentTo"} xref: GARD:0004160 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:2788/attributed", source="ORDO:2788/ntbt", source="Orphanet:2788", source="DOID:0060849"} -xref: MedDRA:10052452 {source="Orphanet:2788", source="ORDO:2788/e"} -xref: MESH:C536063 {source="MONDO:equivalentTo", source="Orphanet:2788", source="ORDO:2788/e", source="DOID:0060849"} +xref: ICD10CM:Q87.5 {source="Orphanet:2788", source="DOID:0060849", source="Orphanet:2788/attributed", source="Orphanet:2788/ntbt"} +xref: MedDRA:10052452 {source="Orphanet:2788", source="Orphanet:2788/e"} +xref: MESH:C536063 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} xref: NCIT:C130998 {source="MONDO:equivalentTo"} -xref: OMIM:259770 {source="MONDO:equivalentTo", source="Orphanet:2788", source="ORDO:2788/e", source="DOID:0060849"} +xref: OMIM:259770 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} xref: Orphanet:2788 {source="OMIM:259770", source="MONDO:equivalentTo", source="DOID:0060849"} -xref: UMLS:C0432252 {source="OMIM:259770", source="NCIT:C130998", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2788", source="ORDO:2788/e", source="DOID:0060849"} +xref: UMLS:C0432252 {source="OMIM:259770", source="NCIT:C130998", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} is_a: MONDO:0000508 {source="Orphanet:2788"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130998", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060849", source="MONDO:Redundant"} ! autosomal recessive disease @@ -187650,11 +187616,11 @@ synonym: "RAINE syndrome" RELATED [MONDO:Lexical, OMIM:259775] synonym: "Raine syndrome" EXACT [Orphanet:1832] synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259775] xref: GARD:0000282 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.2 {source="ORDO:1832/attributed", source="ORDO:1832/ntbt", source="Orphanet:1832"} +xref: ICD10CM:Q78.2 {source="Orphanet:1832", source="Orphanet:1832/attributed", source="Orphanet:1832/ntbt"} xref: MESH:C535282 {source="MONDO:equivalentTo"} -xref: OMIM:259775 {source="MONDO:equivalentTo", source="ORDO:1832/e", source="Orphanet:1832"} +xref: OMIM:259775 {source="MONDO:equivalentTo", source="Orphanet:1832", source="Orphanet:1832/e"} xref: Orphanet:1832 {source="MONDO:equivalentTo", source="OMIM:259775"} -xref: UMLS:C1850106 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1832/e", source="OMIM:259775", source="Orphanet:1832"} +xref: UMLS:C1850106 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:259775", source="Orphanet:1832", source="Orphanet:1832/e"} is_a: MONDO:0019702 {source="Orphanet:1832"} ! neonatal osteosclerotic dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22140 {source="mim2gene_medgen"} ! FAM20C property_value: confidence "7.125" xsd:double @@ -187667,14 +187633,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2793"} synonym: "oto-onycho-peroneal syndrome" RELATED [GARD:0004170] synonym: "otoonychoperoneal syndrome" EXACT [OMIM:259780] xref: GARD:0004170 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="Orphanet:2793", source="ORDO:2793/attributed", source="ORDO:2793/ntbt"} +xref: ICD10CM:Q87.5 {source="Orphanet:2793", source="Orphanet:2793/attributed", source="Orphanet:2793/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564912 {source="MONDO:equivalentTo"} -xref: OMIM:259780 {source="Orphanet:2793", source="ORDO:2793/e", source="MONDO:equivalentTo"} +xref: OMIM:259780 {source="Orphanet:2793", source="MONDO:equivalentTo", source="Orphanet:2793/e"} xref: Orphanet:2793 {source="OMIM:259780", source="MONDO:equivalentTo"} xref: SCTID:441944007 {source="MONDO:equivalentTo"} xref: UMLS:C1850105 {source="Orphanet:2793", source="OMIM:259780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -xref: UMLS:C2711794 {source="Orphanet:2793", source="ORDO:2793/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2711794 {source="Orphanet:2793", source="Orphanet:2793/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015161 {source="Orphanet:2793", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -187710,15 +187676,15 @@ synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835] synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900] xref: DOID:0111670 {source="MONDO:equivalentTo"} xref: GARD:0002835 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.8 {source="Orphanet:93598", source="ORDO:93598/attributed", source="ORDO:93598/ntbt"} +xref: ICD10CM:E74.8 {source="Orphanet:93598", source="Orphanet:93598/attributed", source="Orphanet:93598/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536414 {source="ORDO:93598/e", source="MONDO:equivalentTo", source="Orphanet:93598"} +xref: MESH:C536414 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"} xref: NCIT:C123212 {source="MONDO:equivalentTo"} -xref: OMIM:259900 {source="ORDO:93598/e", source="MONDO:equivalentTo", source="Orphanet:93598"} +xref: OMIM:259900 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"} xref: Orphanet:416 {source="MONDO:subClassOf", source="OMIM:259900"} xref: Orphanet:93598 {source="MONDO:equivalentTo", source="OMIM:259900"} xref: SCTID:65520001 {source="MONDO:equivalentTo"} -xref: UMLS:C0268164 {source="ORDO:93598/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93598", source="NCIT:C123212", source="OMIM:259900"} +xref: UMLS:C0268164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93598", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598/e"} is_a: MONDO:0002474 {source="DC-OMIM:259900", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598", source="linkedlifedata"} ! primary hyperoxaluria is_a: MONDO:0100278 {source="PMID:16756494", source="https://www.clinicalgenome.org/affiliation/40049/"} ! alanine glyoxylate aminotransferase deficiency intersection_of: MONDO:0002474 ! primary hyperoxaluria @@ -187750,11 +187716,11 @@ synonym: "primary hyperoxaluria type 2" EXACT CLINGEN_PREFERRED [] synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213] xref: DOID:0111671 {source="MONDO:equivalentTo"} xref: GARD:0002836 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.8 {source="ORDO:93599/attributed", source="ORDO:93599/ntbt", source="Orphanet:93599"} +xref: ICD10CM:E74.8 {source="Orphanet:93599", source="Orphanet:93599/attributed", source="Orphanet:93599/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536415 {source="MONDO:equivalentTo"} xref: NCIT:C123213 {source="MONDO:equivalentTo"} -xref: OMIM:260000 {source="ORDO:93599/e", source="MONDO:equivalentTo", source="Orphanet:93599"} +xref: OMIM:260000 {source="MONDO:equivalentTo", source="Orphanet:93599", source="Orphanet:93599/e"} xref: Orphanet:416 {source="MONDO:subClassOf", source="OMIM:260000"} xref: Orphanet:93599 {source="MONDO:equivalentTo", source="OMIM:260000"} xref: SCTID:40951006 {source="MONDO:equivalentTo"} @@ -187782,13 +187748,13 @@ synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [Orphanet:33572] synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:0005681 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0040142 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E72.8 {source="ORDO:33572/attributed", source="ORDO:33572/ntbt", source="Orphanet:33572"} +xref: ICD10CM:E72.8 {source="Orphanet:33572/attributed", source="Orphanet:33572/ntbt", source="Orphanet:33572"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535322 {source="MONDO:equivalentTo", source="ORDO:33572/e", source="Orphanet:33572"} -xref: OMIM:260005 {source="MONDO:equivalentTo", source="ORDO:33572/e", source="Orphanet:33572"} +xref: MESH:C535322 {source="Orphanet:33572/e", source="MONDO:equivalentTo", source="Orphanet:33572"} +xref: OMIM:260005 {source="Orphanet:33572/e", source="MONDO:equivalentTo", source="Orphanet:33572"} xref: Orphanet:33572 {source="OMIM:260005", source="MONDO:equivalentTo"} xref: SCTID:26132002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268525 {source="OMIM:260005", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:33572/e", source="Orphanet:33572"} +xref: UMLS:C0268525 {source="OMIM:260005", source="Orphanet:33572/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:33572"} is_a: MONDO:0019241 {source="Orphanet:33572", source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0017168 ! 5-oxoprolinase (ATP-hydrolyzing) activity @@ -187814,7 +187780,7 @@ synonym: "pachyonychia congenita, autosomal recessive" EXACT [OMIM:260130] xref: MESH:C538094 {source="MONDO:equivalentTo"} xref: OMIM:260130 {source="MONDO:equivalentTo"} xref: UMLS:C1850103 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260130"} -is_a: MONDO:0016471 {source="MESH:C538094", source="OMIM:260130", source="ORDO:2309/btnt"} ! pachyonychia congenita +is_a: MONDO:0016471 {source="MESH:C538094", source="OMIM:260130", source="Orphanet:2309/btnt"} ! pachyonychia congenita is_a: MONDO:0019285 {source="MONDO:Phenocopy", source="MONDO:Redundant", source="indirect"} ! syndromic nail anomaly relationship: disease_shares_features_of MONDO:0016471 {source="MONDO:Phenocopy", source="OMIM:260130"} ! pachyonychia congenita property_value: confidence "29.33333333333344" xsd:double @@ -187864,11 +187830,11 @@ synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO: synonym: "parkinsonian-pyramidal syndrome" EXACT CLINGEN_PREFERRED [DOID:0060372, OMIM:260300] xref: DOID:0060372 {source="MONDO:equivalentTo"} xref: GARD:0009175 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G20 {source="ORDO:171695/attributed", source="ORDO:171695/ntbt", source="Orphanet:171695"} +xref: ICD10CM:G20 {source="Orphanet:171695", source="Orphanet:171695/attributed", source="Orphanet:171695/ntbt"} xref: MESH:C538104 {source="MONDO:equivalentTo"} -xref: OMIM:168100 {source="ORDO:171695/btnt", source="MONDO:superClassOf", source="Orphanet:171695"} -xref: OMIM:168601 {source="MONDO:subClassOf", source="ORDO:171695/ntbt", source="Orphanet:171695", source="MONDO:directSiblingOf"} -xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="ORDO:171695/e", source="DOID:0060372"} +xref: OMIM:168100 {source="MONDO:superClassOf", source="Orphanet:171695", source="Orphanet:171695/btnt"} +xref: OMIM:168601 {source="MONDO:subClassOf", source="Orphanet:171695", source="MONDO:directSiblingOf", source="Orphanet:171695/ntbt"} +xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="DOID:0060372", source="Orphanet:171695/e"} xref: Orphanet:171695 {source="MONDO:equivalentTo", source="OMIM:260300"} xref: UMLS:C1850100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171695", source="OMIM:260300"} is_a: MONDO:0005180 {source="DOID:0060372/inferred", source="MONDO:Redundant", source="OMIM:260300", source="indirect"} ! Parkinson disease @@ -187951,11 +187917,11 @@ synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1, OMIM:260370] synonym: "partial agenesis of the pancreas" EXACT [Orphanet:2805] synonym: "partial pancreatic agenesis" EXACT [DOID:0050877] xref: DOID:0050877 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q45.0 {source="Orphanet:2805", source="ORDO:2805/attributed", source="ORDO:2805/ntbt"} +xref: ICD10CM:Q45.0 {source="Orphanet:2805/attributed", source="Orphanet:2805/ntbt", source="Orphanet:2805"} xref: MESH:C564908 {source="MONDO:equivalentTo"} -xref: OMIM:167755 {source="MONDO:superClassOf", source="Orphanet:2805", source="ORDO:2805/btnt"} -xref: OMIM:260370 {source="MONDO:superClassOf", source="DOID:0050877", source="Orphanet:2805", source="ORDO:2805/e"} -xref: OMIM:615935 {source="MONDO:superClassOf", source="Orphanet:2805", source="ORDO:2805/btnt"} +xref: OMIM:167755 {source="MONDO:superClassOf", source="Orphanet:2805/btnt", source="Orphanet:2805"} +xref: OMIM:260370 {source="Orphanet:2805/e", source="MONDO:superClassOf", source="DOID:0050877", source="Orphanet:2805"} +xref: OMIM:615935 {source="MONDO:superClassOf", source="Orphanet:2805/btnt", source="Orphanet:2805"} xref: OMIMPS:260370 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="MONDO:equivalentTo", source="OMIM:260370"} xref: SCTID:719044008 {source="MONDO:equivalentTo"} @@ -187984,11 +187950,11 @@ synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [DOID:0080023] xref: DOID:0060479 {source="MONDO:equivalentTo"} xref: DOID:0080023 {source="MONDO:equivalentObsolete"} xref: GARD:0004863 {source="MONDO:equivalentTo"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:811", source="DOID:0060479", source="ORDO:811/inclusion", source="ORDO:811/ntbt"} -xref: MedDRA:10067940 {source="ORDO:811/e", source="Orphanet:811"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:811/inclusion", source="Orphanet:811/ntbt", source="Orphanet:811", source="DOID:0060479"} +xref: MedDRA:10067940 {source="Orphanet:811", source="Orphanet:811/e"} xref: MESH:C537330 {source="DOID:0060479", source="MONDO:equivalentTo"} xref: NCIT:C61235 {source="MONDO:equivalentTo"} -xref: OMIM:260400 {source="ORDO:811/e", source="Orphanet:811", source="DOID:0060479", source="MONDO:superClassOf"} +xref: OMIM:260400 {source="Orphanet:811", source="DOID:0060479", source="MONDO:superClassOf", source="Orphanet:811/e"} xref: OMIMPS:260400 {source="MONDO:equivalentTo"} xref: Orphanet:811 {source="MONDO:equivalentTo", source="OMIM:260400"} xref: SCTID:89454001 {source="MONDO:equivalentTo"} @@ -188036,11 +188002,11 @@ synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [DOID:8970] xref: DOID:8970 {source="EFO:0007502", source="MONDO:equivalentTo"} xref: EFO:0007502 {source="MONDO:equivalentTo"} xref: GARD:0007708 {source="MONDO:equivalentTo"} -xref: ICD10CM:A81.1 {source="MONDO:equivalentTo", source="DOID:8970", source="ORDO:2806/ntbt", source="Orphanet:2806"} +xref: ICD10CM:A81.1 {source="MONDO:equivalentTo", source="Orphanet:2806/ntbt", source="DOID:8970", source="Orphanet:2806"} xref: ICD9:046.2 {source="DOID:8970"} xref: MESH:D013344 {source="EFO:0007502", source="MONDO:equivalentTo", source="DOID:8970"} xref: NCIT:C85171 {source="MONDO:equivalentTo", source="DOID:8970"} -xref: OMIM:260470 {source="MONDO:equivalentTo", source="DOID:8970", source="ORDO:2806/e", source="Orphanet:2806"} +xref: OMIM:260470 {source="Orphanet:2806/e", source="MONDO:equivalentTo", source="DOID:8970", source="Orphanet:2806"} xref: Orphanet:2806 {source="MONDO:equivalentTo", source="OMIM:260470"} xref: SCTID:186484007 {source="DOID:8970"} xref: SCTID:192685000 {source="DOID:8970"} @@ -188084,20 +188050,20 @@ synonym: "pediatric papilloma of choroid plexus" NARROW [DOID:2626, NCIT:C5800] xref: DOID:2626 {source="MONDO:equivalentTo"} xref: EFO:1000177 {source="MONDO:equivalentTo"} xref: GARD:0004214 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D33.0 {source="ORDO:2807/ntbt", source="Orphanet:2807"} +xref: ICD10CM:D33.0 {source="Orphanet:2807/ntbt", source="Orphanet:2807"} xref: ICDO:9390/0 {source="NCIT:C3698"} -xref: MedDRA:10008777 {source="Orphanet:2807", source="ORDO:2807/e"} -xref: MESH:D020288 {source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807", source="ORDO:2807/e"} +xref: MedDRA:10008777 {source="Orphanet:2807/e", source="Orphanet:2807"} +xref: MESH:D020288 {source="Orphanet:2807/e", source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807"} xref: NCIT:C3698 {source="MONDO:equivalentTo", source="DOID:2626"} xref: NCIT:C5800 {source="DOID:2626"} -xref: OMIM:260500 {source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807", source="ORDO:2807/e"} +xref: OMIM:260500 {source="Orphanet:2807/e", source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807"} xref: ONCOTREE:CPP {source="MONDO:equivalentTo"} xref: Orphanet:251899 {source="OMIM:260500", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: Orphanet:2807 {source="OMIM:260500", source="MONDO:equivalentTo"} xref: SCTID:18021007 {source="DOID:2626"} xref: SCTID:189911002 {source="DOID:2626"} xref: SCTID:425868004 {source="MONDO:equivalentTo"} -xref: UMLS:C0205770 {source="OMIM:260500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2626", source="NCIT:C3698", source="Orphanet:2807", source="ORDO:2807/e"} +xref: UMLS:C0205770 {source="OMIM:260500", source="Orphanet:2807/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:2626", source="NCIT:C3698", source="Orphanet:2807"} xref: UMLS:C0431109 {source="OMIM:260500", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1332963 {source="MONDO:notFoundInDiseaseSubset", source="DOID:2626"} is_a: MONDO:0002363 {source="DOID:2626", source="MONDO:Redundant", source="NCIT:C3698"} ! papilloma @@ -188119,10 +188085,10 @@ synonym: "hard-skin syndrome, Parana type" EXACT [Orphanet:2812] synonym: "Parana hard skin syndrome" RELATED [Orphanet:2812] synonym: "Parana hard-skin syndrome" EXACT [OMIM:260530] xref: GARD:0002598 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L91.8 {source="ORDO:2812/attributed", source="ORDO:2812/ntbt", source="Orphanet:2812"} +xref: ICD10CM:L91.8 {source="Orphanet:2812", source="Orphanet:2812/attributed", source="Orphanet:2812/ntbt"} xref: MESH:C564905 {source="MONDO:equivalentTo"} xref: NCIT:C126559 {source="MONDO:equivalentTo"} -xref: OMIM:260530 {source="MONDO:equivalentTo", source="Orphanet:2812", source="ORDO:2812/e"} +xref: OMIM:260530 {source="MONDO:equivalentTo", source="Orphanet:2812", source="Orphanet:2812/e"} xref: Orphanet:2812 {source="MONDO:equivalentTo", source="OMIM:260530"} xref: UMLS:C1850079 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2812", source="OMIM:260530", source="NCIT:C126559"} is_a: MONDO:0002254 {source="NCIT:C126559"} ! syndromic disease @@ -188143,9 +188109,9 @@ synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [OMIM:260540] synonym: "supranuclear palsy, progressive atypical" EXACT [OMIM:260540, OMIM:genemap2] synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [OMIM:260540] xref: GARD:0004507 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G23.1 {source="Orphanet:240085", source="ORDO:240085/attributed", source="ORDO:240085/ntbt"} +xref: ICD10CM:G23.1 {source="Orphanet:240085", source="Orphanet:240085/attributed", source="Orphanet:240085/ntbt"} xref: MESH:C537240 {source="MONDO:equivalentTo"} -xref: OMIM:260540 {source="Orphanet:240085", source="ORDO:240085/e", source="MONDO:equivalentTo"} +xref: OMIM:260540 {source="Orphanet:240085", source="MONDO:equivalentTo", source="Orphanet:240085/e"} xref: Orphanet:240085 {source="MONDO:equivalentTo", source="OMIM:260540"} xref: Orphanet:683 {source="MONDO:subClassOf", source="OMIM:260540"} xref: Orphanet:99750 {source="MONDO:subClassOf", source="OMIM:260540"} @@ -188183,13 +188149,13 @@ synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrop synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:2836] xref: DOID:0080539 {source="MONDO:equivalentTo"} xref: GARD:0004264 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:2836/attributed", source="ORDO:2836/ntbt", source="Orphanet:2836"} -xref: MESH:C536317 {source="MONDO:equivalentTo", source="Orphanet:2836", source="ORDO:2836/e"} -xref: OMIM:260565 {source="MONDO:equivalentTo", source="Orphanet:2836", source="ORDO:2836/e"} +xref: ICD10CM:G31.8 {source="Orphanet:2836", source="Orphanet:2836/attributed", source="Orphanet:2836/ntbt"} +xref: MESH:C536317 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} +xref: OMIM:260565 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} xref: Orphanet:2836 {source="MONDO:equivalentTo", source="OMIM:260565"} xref: Orphanet:99807 {source="MONDO:superClassOf", source="OMIM:260565"} -xref: UMLS:C0796122 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2836", source="ORDO:2836/e"} -xref: UMLS:C1850055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2836", source="ORDO:2836/e", source="OMIM:260565"} +xref: UMLS:C0796122 {source="Orphanet:2836/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2836"} +xref: UMLS:C1850055 {source="Orphanet:2836/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2836", source="OMIM:260565"} xref: UMLS:C1850056 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:260565"} is_a: MONDO:0015650 {source="Orphanet:2836"} ! epilepsy syndrome is_a: MONDO:0018609 {source="Orphanet:2836"} ! syndromic hereditary optic neuropathy @@ -188225,9 +188191,9 @@ synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0 synonym: "perinatal Sudanophilic leukodystrophy" RELATED [GARD:0004266] xref: DOID:0060790 {source="MONDO:equivalentTo"} xref: GARD:0004266 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:280293", source="ORDO:280293/attributed", source="ORDO:280293/ntbt", source="DOID:0060790"} +xref: ICD10CM:E75.2 {source="Orphanet:280293/attributed", source="Orphanet:280293/ntbt", source="Orphanet:280293", source="DOID:0060790"} xref: MESH:C536319 {source="MONDO:equivalentTo"} -xref: OMIM:260600 {source="ORDO:280293/e", source="Orphanet:280293", source="MONDO:equivalentTo", source="DOID:0060790"} +xref: OMIM:260600 {source="Orphanet:280293", source="MONDO:equivalentTo", source="Orphanet:280293/e", source="DOID:0060790"} xref: Orphanet:280270 {source="MONDO:subClassOf", source="OMIM:260600"} xref: Orphanet:280293 {source="OMIM:260600", source="MONDO:equivalentTo", source="DOID:0060790"} xref: UMLS:C1850053 {source="OMIM:260600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -188267,12 +188233,12 @@ synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short synonym: "familial pelvis-scapular dysplasia" EXACT [Orphanet:93333] synonym: "pelviscapular dysplasia" EXACT [OMIM:260660] xref: GARD:0001555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.5 {source="Orphanet:93333", source="ORDO:93333/attributed", source="ORDO:93333/ntbt"} -xref: MESH:C535550 {source="ORDO:93333/e", source="Orphanet:93333", source="MONDO:equivalentTo"} -xref: OMIM:260660 {source="ORDO:93333/e", source="Orphanet:93333", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.5 {source="Orphanet:93333/attributed", source="Orphanet:93333/ntbt", source="Orphanet:93333"} +xref: MESH:C535550 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"} +xref: OMIM:260660 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"} xref: Orphanet:93333 {source="MONDO:equivalentTo", source="OMIM:260660"} xref: SCTID:719299009 {source="MONDO:equivalentTo"} -xref: UMLS:C1850040 {source="ORDO:93333/e", source="Orphanet:93333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260660"} +xref: UMLS:C1850040 {source="Orphanet:93333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:260660", source="Orphanet:93333/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -188289,20 +188255,19 @@ subset: ordo_disease {source="Orphanet:2843"} synonym: "essential pentosuria" EXACT [Orphanet:2843] synonym: "L-xylulose reductase deficiency" RELATED [OMIM:260800] synonym: "L-Xylulosuria" RELATED [OMIM:260800] -synonym: "pentosuria" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:260800] -synonym: "pentosuria" EXACT [OMIM:260800, OMIM:genemap2] +synonym: "pentosuria" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:260800, OMIM:genemap2] synonym: "PNTSU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260800] synonym: "xylitol dehydrogenase deficiency" EXACT [OMIM:260800, Orphanet:2843] xref: DOID:0111258 {source="MONDO:equivalentTo"} xref: GARD:0000418 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.8 {source="ORDO:2843/ntbt", source="Orphanet:2843", source="ORDO:2843/inclusion"} +xref: ICD10CM:E74.8 {source="Orphanet:2843/inclusion", source="Orphanet:2843", source="Orphanet:2843/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10064170 {source="Orphanet:2843", source="ORDO:2843/e"} -xref: MESH:C536652 {source="MONDO:equivalentTo", source="Orphanet:2843", source="ORDO:2843/e"} -xref: OMIM:260800 {source="MONDO:equivalentTo", source="Orphanet:2843", source="ORDO:2843/e"} +xref: MedDRA:10064170 {source="Orphanet:2843", source="Orphanet:2843/e"} +xref: MESH:C536652 {source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"} +xref: OMIM:260800 {source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"} xref: Orphanet:2843 {source="OMIM:260800", source="MONDO:equivalentTo"} xref: SCTID:190764000 {source="MONDO:equivalentTo"} -xref: UMLS:C0268162 {source="OMIM:260800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2843", source="ORDO:2843/e"} +xref: UMLS:C0268162 {source="OMIM:260800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"} is_a: MONDO:0018605 {source="Orphanet:2843"} ! disorders of pentose/polyol metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18985 {source="mim2gene_medgen"} ! DCXR relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -188333,11 +188298,11 @@ subset: ordo_disease {source="Orphanet:345"} synonym: "dissecting cellulitis of the scalp" EXACT [OMIM:260910] synonym: "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" RELATED [OMIM:260910] xref: GARD:0001883 {source="MONDO:equivalentTo"} -xref: ICD10CM:L08.8 {source="Orphanet:345", source="ORDO:345/ntbt"} +xref: ICD10CM:L08.8 {source="Orphanet:345", source="Orphanet:345/ntbt"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056961 {source="Orphanet:345", source="ORDO:345/e"} +xref: MedDRA:10056961 {source="Orphanet:345", source="Orphanet:345/e"} xref: MESH:C562486 {source="MONDO:equivalentTo"} -xref: OMIM:260910 {source="Orphanet:345", source="MONDO:equivalentTo", source="ORDO:345/e"} +xref: OMIM:260910 {source="Orphanet:345", source="MONDO:equivalentTo", source="Orphanet:345/e"} xref: Orphanet:345 {source="OMIM:260910", source="MONDO:equivalentTo"} xref: SCTID:77333008 {source="MONDO:equivalentTo"} xref: UMLS:C0263506 {source="OMIM:260910", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -188360,8 +188325,8 @@ synonym: "partial mevalonate kinase deficiency" EXACT [Orphanet:343] synonym: "periodic fever Dutch type" RELATED [GARD:0002788] synonym: "periodic fever, Dutch type" RELATED [OMIM:260920] xref: GARD:0002788 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E85.0 {source="ORDO:343/attributed", source="ORDO:343/ntbt", source="Orphanet:343"} -xref: OMIM:260920 {source="MONDO:equivalentTo", source="ORDO:343/e", source="Orphanet:343"} +xref: ICD10CM:E85.0 {source="Orphanet:343/attributed", source="Orphanet:343/ntbt", source="Orphanet:343"} +xref: OMIM:260920 {source="Orphanet:343/e", source="MONDO:equivalentTo", source="Orphanet:343"} xref: Orphanet:343 {source="OMIM:260920", source="MONDO:equivalentTo"} xref: UMLS:C0398691 {source="OMIM:260920", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:343"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity @@ -188407,16 +188372,16 @@ synonym: "intrinsic factor, congenital deficiency of" RELATED [GARD:0003024] synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [OMIM:261000] xref: DOID:0050734 {source="MONDO:equivalentTo"} xref: GARD:0003024 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D51.0 {source="ORDO:332/attributed", source="ORDO:332/ntbt", source="Orphanet:332"} +xref: ICD10CM:D51.0 {source="Orphanet:332/attributed", source="Orphanet:332/ntbt", source="Orphanet:332"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10070440 {source="ORDO:332/e", source="Orphanet:332"} +xref: MedDRA:10070440 {source="Orphanet:332/e", source="Orphanet:332"} xref: MESH:C563242 {source="MONDO:equivalentTo"} -xref: OMIM:243320 {source="ORDO:332/btnt", source="MONDO:superClassOf", source="Orphanet:332"} -xref: OMIM:261000 {source="MONDO:equivalentTo", source="DOID:0050734", source="ORDO:332/e", source="Orphanet:332"} +xref: OMIM:243320 {source="Orphanet:332/btnt", source="MONDO:superClassOf", source="Orphanet:332"} +xref: OMIM:261000 {source="Orphanet:332/e", source="MONDO:equivalentTo", source="DOID:0050734", source="Orphanet:332"} xref: Orphanet:332 {source="MONDO:equivalentTo", source="OMIM:261000"} xref: SCTID:34925000 {source="MONDO:relatedTo"} xref: SCTID:60504009 {source="MONDO:equivalentTo"} -xref: UMLS:C0340957 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:332/e", source="Orphanet:332"} +xref: UMLS:C0340957 {source="Orphanet:332/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:332"} xref: UMLS:C1394891 {source="NCBI:mim2gene_medline", source="MONDO:EquivalentTo", source="OMIM:261000", source="Orphanet:332"} is_a: MONDO:0000424 {source="DOID:0050734", source="MESH:C563242/inferred", source="MONDO:Redundant"} ! inborn vitamin B12 deficiency is_a: MONDO:0016624 ! inherited deficiency anemia @@ -188440,9 +188405,9 @@ synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677] synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677] synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858] xref: GARD:0007006 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D51.1 {source="Orphanet:35858", source="ORDO:35858/attributed", source="ORDO:35858/ntbt"} +xref: ICD10CM:D51.1 {source="Orphanet:35858/attributed", source="Orphanet:35858/ntbt", source="Orphanet:35858"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="i2s"} -xref: OMIMPS:261100 {source="ORDO:35858/e", source="Orphanet:35858", source="MONDO:equivalentTo"} +xref: OMIMPS:261100 {source="Orphanet:35858", source="MONDO:equivalentTo", source="Orphanet:35858/e"} xref: Orphanet:35858 {source="MONDO:equivalentTo", source="OMIM:261100"} xref: SCTID:360495000 {source="MONDO:equivalentTo"} xref: UMLS:C1306856 {source="Orphanet:35858", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:261100", source="NCIT:C131677"} @@ -188483,14 +188448,14 @@ synonym: "peroxisomal multifunctional enzyme deficiency" EXACT [NCIT:C119676] synonym: "pseudo-Zellweger syndrome" EXACT [NCIT:C119676] xref: DOID:0090031 {source="MONDO:equivalentTo"} xref: GARD:0004539 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="DOID:0090031", source="ORDO:300/attributed", source="ORDO:300/ntbt", source="Orphanet:300"} +xref: ICD10CM:E71.3 {source="DOID:0090031", source="Orphanet:300/attributed", source="Orphanet:300/ntbt", source="Orphanet:300"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536663 {source="ORDO:300/e", source="Orphanet:300"} +xref: MESH:C536663 {source="Orphanet:300/e", source="Orphanet:300"} xref: NCIT:C119676 {source="MONDO:equivalentTo"} -xref: OMIM:261515 {source="DOID:0090031", source="MONDO:equivalentTo", source="ORDO:300/e", source="Orphanet:300"} +xref: OMIM:261515 {source="DOID:0090031", source="Orphanet:300/e", source="MONDO:equivalentTo", source="Orphanet:300"} xref: Orphanet:300 {source="OMIM:261515", source="DOID:0090031", source="MONDO:equivalentTo"} xref: SCTID:238068007 {source="MONDO:equivalentTo"} -xref: UMLS:C0342870 {source="OMIM:261515", source="NCBI:mim2gene_medline", source="NCIT:C119676", source="MONDO:equivalentTo", source="ORDO:300/e", source="Orphanet:300"} +xref: UMLS:C0342870 {source="OMIM:261515", source="Orphanet:300/e", source="NCBI:mim2gene_medline", source="NCIT:C119676", source="MONDO:equivalentTo", source="Orphanet:300"} xref: UMLS:C1533628 {source="MONDO:equivalentTo"} xref: UMLS:CN203333 {source="MONDO:equivalentTo"} is_a: MONDO:0019233 {source="Orphanet:300", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation @@ -188514,11 +188479,11 @@ synonym: "Peters-plus syndrome" EXACT [DOID:0080201, OMIM:261540] xref: DOID:0070312 {source="MONDO:equivalentObsolete"} xref: DOID:0080201 {source="MONDO:equivalentTo"} xref: GARD:0008422 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q13.4 {source="ORDO:709/attributed", source="ORDO:709/ntbt", source="Orphanet:709"} +xref: ICD10CM:Q13.4 {source="Orphanet:709/attributed", source="Orphanet:709/ntbt", source="Orphanet:709"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537617 {source="MONDO:equivalentTo"} xref: NCIT:C123436 {source="MONDO:equivalentTo"} -xref: OMIM:261540 {source="MONDO:equivalentTo", source="DOID:0070312", source="ORDO:709/e", source="Orphanet:709"} +xref: OMIM:261540 {source="Orphanet:709/e", source="MONDO:equivalentTo", source="DOID:0070312", source="Orphanet:709"} xref: Orphanet:709 {source="MONDO:equivalentTo", source="OMIM:261540"} xref: SCTID:449817000 {source="MONDO:equivalentTo"} xref: UMLS:C0796012 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261540", source="NCIT:C123436", source="Orphanet:709"} @@ -188558,14 +188523,14 @@ synonym: "PMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261550, Orphanet:2856] synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550] xref: DOID:0050791 {source="MONDO:equivalentTo"} xref: GARD:0008435 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q55.8 {source="ORDO:2856/attributed", source="ORDO:2856/ntbt", source="Orphanet:2856"} +xref: ICD10CM:Q55.8 {source="Orphanet:2856", source="Orphanet:2856/attributed", source="Orphanet:2856/ntbt"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="ORDO:2856/e", source="DOID:0050791"} +xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"} xref: NCIT:C120188 {source="MONDO:equivalentTo", source="DOID:0050791"} -xref: OMIM:261550 {source="MONDO:equivalentTo", source="Orphanet:2856", source="ORDO:2856/e", source="DOID:0050791"} +xref: OMIM:261550 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"} xref: Orphanet:2856 {source="MONDO:equivalentTo", source="OMIM:261550"} xref: SCTID:702358005 {source="MONDO:equivalentTo", source="DOID:0050791"} -xref: UMLS:C1849930 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2856", source="ORDO:2856/e", source="NCIT:C120188", source="OMIM:261550", source="DOID:0050791"} +xref: UMLS:C1849930 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2856", source="NCIT:C120188", source="OMIM:261550", source="DOID:0050791", source="Orphanet:2856/e"} is_a: MONDO:0005372 ! male infertility is_a: MONDO:0005518 {source="DOID:0050791"} ! pseudohermaphroditism is_a: MONDO:0017969 {source="Orphanet:2856"} ! 46,XY disorder of sex development of endocrine origin @@ -188586,12 +188551,12 @@ synonym: "PPT syndrome" RELATED [OMIM:261560] synonym: "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" RELATED [GARD:0004305] synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [OMIM:261560] xref: GARD:0004305 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:2871", source="ORDO:2871/attributed", source="ORDO:2871/ntbt"} -xref: MESH:C537889 {source="ORDO:2871/e", source="Orphanet:2871", source="MONDO:equivalentTo"} -xref: OMIM:261560 {source="ORDO:2871/e", source="Orphanet:2871", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.1 {source="Orphanet:2871/attributed", source="Orphanet:2871/ntbt", source="Orphanet:2871"} +xref: MESH:C537889 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"} +xref: OMIM:261560 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"} xref: Orphanet:2871 {source="MONDO:equivalentTo", source="OMIM:261560"} xref: SCTID:726672000 {source="MONDO:equivalentTo"} -xref: UMLS:C1849929 {source="ORDO:2871/e", source="Orphanet:2871", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261560"} +xref: UMLS:C1849929 {source="Orphanet:2871", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261560", source="Orphanet:2871/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2871", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2871"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -188608,9 +188573,9 @@ synonym: "PHAVER syndrome" EXACT [OMIM:261575] synonym: "Powell-Chandra-Saal syndrome" EXACT [Orphanet:2876] synonym: "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" RELATED [GARD:0004465] xref: GARD:0004465 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2876/attributed", source="ORDO:2876/ntbt", source="Orphanet:2876"} +xref: ICD10CM:Q87.8 {source="Orphanet:2876", source="Orphanet:2876/attributed", source="Orphanet:2876/ntbt"} xref: MESH:C538357 {source="MONDO:equivalentTo"} -xref: OMIM:261575 {source="MONDO:equivalentTo", source="Orphanet:2876", source="ORDO:2876/e"} +xref: OMIM:261575 {source="MONDO:equivalentTo", source="Orphanet:2876", source="Orphanet:2876/e"} xref: Orphanet:2876 {source="MONDO:equivalentTo", source="OMIM:261575"} xref: SCTID:723453002 {source="MONDO:equivalentTo"} xref: UMLS:C1849928 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2876", source="OMIM:261575"} @@ -188654,21 +188619,21 @@ synonym: "phenylpyruvic oligophrenia" RELATED [] synonym: "PKU" EXACT ABBREVIATION [DOID:9281, MONDO:Lexical, OMIM:261600, Orphanet:716] xref: DOID:9281 {source="MONDO:equivalentTo"} xref: GARD:0007383 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E70.0 {source="ORDO:716/attributed", source="ORDO:716/ntbt", source="Orphanet:716"} -xref: ICD10CM:E70.1 {source="ORDO:716/attributed", source="ORDO:716/ntbt", source="Orphanet:716"} +xref: ICD10CM:E70.0 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} +xref: ICD10CM:E70.1 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} xref: ICD9:270.1 {source="DOID:9281"} -xref: MedDRA:10034872 {source="ORDO:716/e", source="Orphanet:716"} -xref: MESH:D010661 {source="DOID:9281", source="ORDO:716/e", source="MONDO:equivalentTo", source="Orphanet:716"} +xref: MedDRA:10034872 {source="Orphanet:716", source="Orphanet:716/e"} +xref: MESH:D010661 {source="DOID:9281", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"} xref: MESH:D017042 {source="DOID:9281"} xref: NCIT:C81315 {source="DOID:9281", source="MONDO:equivalentTo"} -xref: OMIM:261600 {source="DOID:9281", source="ORDO:716/e", source="MONDO:equivalentTo", source="Orphanet:716"} +xref: OMIM:261600 {source="DOID:9281", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"} xref: Orphanet:2209 {source="OMIM:261600", source="MONDO:superClassOf"} xref: Orphanet:716 {source="OMIM:261600", source="MONDO:equivalentTo"} xref: SCTID:154735006 {source="DOID:9281"} xref: SCTID:190687004 {source="DOID:9281"} xref: SCTID:297225000 {source="DOID:9281"} xref: SCTID:7573000 {source="MONDO:equivalentTo"} -xref: UMLS:C0031485 {source="DOID:9281", source="ORDO:716/e", source="NCBI:mim2gene_medline", source="NCIT:C81315", source="MONDO:equivalentTo", source="Orphanet:716"} +xref: UMLS:C0031485 {source="DOID:9281", source="NCBI:mim2gene_medline", source="NCIT:C81315", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"} xref: UMLS:C0085547 {source="OMIM:261600", source="DOID:9281", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0751434 {source="OMIM:261600", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2678416 {source="OMIM:261600", source="MONDO:notFoundInDiseaseSubset"} @@ -188703,15 +188668,15 @@ synonym: "PKU type 2" EXACT [Orphanet:226] synonym: "Qdpr deficiency" RELATED [OMIM:261630] synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630] xref: GARD:0004319 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.1 {source="Orphanet:226", source="ORDO:226/attributed", source="ORDO:226/ntbt"} -xref: MESH:C537896 {source="Orphanet:226", source="ORDO:226/e"} +xref: ICD10CM:E70.1 {source="Orphanet:226/attributed", source="Orphanet:226/ntbt", source="Orphanet:226"} +xref: MESH:C537896 {source="Orphanet:226", source="Orphanet:226/e"} xref: NCIT:C138173 {source="MONDO:equivalentTo"} -xref: OMIM:261630 {source="Orphanet:226", source="MONDO:equivalentTo", source="ORDO:226/e"} +xref: OMIM:261630 {source="Orphanet:226", source="MONDO:equivalentTo", source="Orphanet:226/e"} xref: Orphanet:226 {source="MONDO:equivalentTo", source="OMIM:261630"} xref: Orphanet:238583 {source="MONDO:subClassOf", source="OMIM:261630"} xref: SCTID:58256000 {source="MONDO:equivalentTo"} -xref: UMLS:C0268465 {source="Orphanet:226", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:261630", source="ORDO:226/e"} -xref: UMLS:C2936906 {source="Orphanet:226", source="MONDO:notFoundInDiseaseSubset", source="ORDO:226/e"} +xref: UMLS:C0268465 {source="Orphanet:226", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:226/e", source="OMIM:261630"} +xref: UMLS:C2936906 {source="Orphanet:226", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:226/e"} is_a: MONDO:0016543 {source="DC-OMIM:261630", source="Orphanet:226", source="linkedlifedata"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0004155 ! 6,7-dihydropteridine reductase activity @@ -188747,14 +188712,14 @@ synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficienc xref: DOID:0090106 {source="MONDO:equivalentTo"} xref: GARD:0005682 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:5682 {source="DOID:0090106"} -xref: ICD10CM:E70.1 {source="Orphanet:13", source="ORDO:13/attributed", source="ORDO:13/ntbt", source="DOID:0090106"} -xref: MESH:C535325 {source="ORDO:13/e", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106"} +xref: ICD10CM:E70.1 {source="Orphanet:13/attributed", source="Orphanet:13/ntbt", source="Orphanet:13", source="DOID:0090106"} +xref: MESH:C535325 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e"} xref: NCIT:C138171 {source="MONDO:equivalentTo"} -xref: OMIM:261640 {source="ORDO:13/e", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="MEDIC:C535325"} +xref: OMIM:261640 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e", source="MEDIC:C535325"} xref: Orphanet:13 {source="MONDO:equivalentTo", source="DOID:0090106", source="OMIM:261640"} xref: Orphanet:238583 {source="MONDO:subClassOf", source="OMIM:261640"} xref: SCTID:237914002 {source="MONDO:equivalentTo"} -xref: UMLS:C0878676 {source="ORDO:13/e", source="NCBI:mim2gene_medline", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="OMIM:261640"} +xref: UMLS:C0878676 {source="NCBI:mim2gene_medline", source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e", source="OMIM:261640"} xref: UMLS:C2678415 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:261640"} is_a: MONDO:0016543 {source="DC-OMIM:261640", source="Orphanet:13"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9689 {source="mim2gene_medgen"} ! PTS @@ -188779,7 +188744,7 @@ xref: OMIM:261650 {source="MONDO:equivalentTo"} xref: Orphanet:2880 {source="MONDO:subClassOf", source="OMIM:261650"} xref: Orphanet:79317 {source="MONDO:equivalentObsolete", source="OMIM:261650"} xref: UMLS:C1849821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261650"} -is_a: MONDO:0017320 {source="ORDO:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency +is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8725 {source="mim2gene_medgen"} ! PCK2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.2463768115942027" xsd:double @@ -188808,10 +188773,10 @@ synonym: "PGAMM deficiency" RELATED [OMIM:261670] synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964] synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670] xref: GARD:0009964 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:97234", source="ORDO:97234/attributed", source="ORDO:97234/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:97234", source="Orphanet:97234/attributed", source="Orphanet:97234/ntbt"} xref: MESH:C536176 {source="MONDO:equivalentTo"} xref: NCIT:C131647 {source="MONDO:equivalentTo"} -xref: OMIM:261670 {source="Orphanet:97234", source="MONDO:equivalentTo", source="ORDO:97234/e"} +xref: OMIM:261670 {source="Orphanet:97234", source="MONDO:equivalentTo", source="Orphanet:97234/e"} xref: Orphanet:97234 {source="MONDO:equivalentTo", source="OMIM:261670"} xref: SCTID:61772003 {source="MONDO:equivalentTo"} xref: UMLS:C0268149 {source="Orphanet:97234", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:261670"} @@ -188843,7 +188808,7 @@ xref: Orphanet:2880 {source="MONDO:subClassOf", source="OMIM:261680"} xref: Orphanet:79316 {source="MONDO:equivalentObsolete", source="OMIM:261680"} xref: UMLS:C0268194 {source="MONDO:subClassOf", source="GARD:0004278", source="OMIM:261680"} xref: UMLS:C1849814 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0017320 {source="ORDO:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency +is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8724 {source="mim2gene_medgen"} ! PCK1 property_value: confidence "1.2463768115942027" xsd:double @@ -188863,10 +188828,10 @@ synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101, OMIM:26 synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090101 {source="MONDO:equivalentTo"} xref: GARD:0010728 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E74.0+ {source="DOID:0090101", source="ORDO:439854/attributed", source="ORDO:439854/ntbt", source="Orphanet:439854"} -xref: ICD10EXP:G73.6* {source="DOID:0090101", source="ORDO:439854/attributed", source="ORDO:439854/ntbt", source="Orphanet:439854"} +xref: ICD10EXP:E74.0+ {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"} +xref: ICD10EXP:G73.6* {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"} xref: MESH:C564888 {source="MONDO:equivalentTo"} -xref: OMIM:261740 {source="MONDO:equivalentTo", source="DOID:0090101", source="Orphanet:439854", source="ORDO:439854/e"} +xref: OMIM:261740 {source="Orphanet:439854/e", source="MONDO:equivalentTo", source="DOID:0090101", source="Orphanet:439854"} xref: Orphanet:439854 {source="MONDO:equivalentTo", source="DOID:0090101"} xref: UMLS:C1849813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261740", source="Orphanet:439854"} is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Redundant", source="Orphanet:439854"} ! glycogen storage disease @@ -188900,9 +188865,9 @@ synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patt synonym: "PHKB-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750] xref: DOID:0111041 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="DOID:0111041", source="ORDO:79240/attributed", source="ORDO:79240/ntbt", source="Orphanet:79240"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="DOID:0111041", source="Orphanet:79240", source="Orphanet:79240/attributed", source="Orphanet:79240/ntbt"} xref: MESH:C563008 {source="MONDO:equivalentTo"} -xref: OMIM:261750 {source="ORDO:79240/e", source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} +xref: OMIM:261750 {source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:79240/e"} xref: Orphanet:79240 {source="DOID:0111041", source="MONDO:equivalentTo", source="OMIM:261750"} xref: UMLS:C0543514 {source="MONDO:equivalentTo", source="Orphanet:79240", source="OMIM:261750"} xref: UMLS:C1849812 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -188942,10 +188907,10 @@ synonym: "syndrome, Pierre Robin" RELATED [MESH:D010855] synonym: "syndrome, Pierre-Robin" RELATED [MESH:D010855] xref: GARD:0004347 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0004354 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:718/ntbt", source="Orphanet:718", source="ORDO:718/inclusion"} +xref: ICD10CM:Q87.0 {source="Orphanet:718/inclusion", source="Orphanet:718/ntbt", source="Orphanet:718"} xref: MESH:D010855 {source="MONDO:equivalentTo"} xref: NCIT:C85010 {source="MONDO:equivalentTo"} -xref: OMIM:261800 {source="MONDO:equivalentTo", source="ORDO:718/e", source="Orphanet:718"} +xref: OMIM:261800 {source="Orphanet:718/e", source="MONDO:equivalentTo", source="Orphanet:718"} xref: Orphanet:718 {source="OMIM:261800", source="MONDO:equivalentTo"} xref: SCTID:4602007 {source="MONDO:equivalentTo"} xref: UMLS:C0031900 {source="OMIM:261800", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C85010", source="Orphanet:718"} @@ -188968,12 +188933,12 @@ synonym: "pili torti, Ronchese type" RELATED [OMIM:261900] synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889] xref: GARD:0004361 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0003777 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q84.1 {source="ORDO:2889/attributed", source="ORDO:2889/ntbt", source="Orphanet:2889"} +xref: ICD10CM:Q84.1 {source="Orphanet:2889", source="Orphanet:2889/attributed", source="Orphanet:2889/ntbt"} xref: MESH:C562485 {source="MONDO:equivalentTo"} -xref: OMIM:261900 {source="MONDO:equivalentTo", source="Orphanet:2889", source="ORDO:2889/e"} +xref: OMIM:261900 {source="MONDO:equivalentTo", source="Orphanet:2889", source="Orphanet:2889/e"} xref: Orphanet:2889 {source="OMIM:261900", source="MONDO:equivalentTo"} xref: SCTID:17170005 {source="MONDO:equivalentTo"} -xref: UMLS:C0263491 {source="OMIM:261900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2889", source="ORDO:2889/e"} +xref: UMLS:C0263491 {source="OMIM:261900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2889", source="Orphanet:2889/e"} is_a: MONDO:0019281 {source="Orphanet:2889"} ! isolated genetic hair shaft abnormality property_value: confidence "3.666666666666667" xsd:double property_value: IAO:0000589 "pili torti (disease)" xsd:string @@ -188987,10 +188952,10 @@ synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [OMIM:2619 synonym: "pili torti and developmental delay" RELATED [OMIM:261990] synonym: "pili torti developmental delay neurological abnormalities" RELATED [GARD:0004362] xref: GARD:0004362 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C537398 {source="Orphanet:2891", source="MONDO:equivalentTo", source="ORDO:2891/e"} -xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source="ORDO:2891/e"} +xref: MESH:C537398 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"} +xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"} xref: Orphanet:2891 {source="MONDO:equivalentTo", source="OMIM:261990"} -xref: UMLS:C1849811 {source="Orphanet:2891", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:261990", source="ORDO:2891/e"} +xref: UMLS:C1849811 {source="Orphanet:2891", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2891/e", source="OMIM:261990"} is_a: MONDO:0019282 {source="Orphanet:2891"} ! syndromic hair shaft abnormality relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "8.6" xsd:double @@ -189013,10 +188978,10 @@ synonym: "PTND" RELATED ABBREVIATION [GARD:0000022] xref: DOID:0050677 {source="MONDO:equivalentTo"} xref: EFO:0002779 {source="MONDO:equivalentTo"} xref: GARD:0000022 {source="MONDO:equivalentTo"} -xref: MESH:C537633 {source="MONDO:equivalentTo", source="ORDO:123/e", source="Orphanet:123"} -xref: OMIM:262000 {source="MONDO:equivalentTo", source="DOID:0050677", source="ORDO:123/e", source="Orphanet:123"} +xref: MESH:C537633 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="Orphanet:123"} +xref: OMIM:262000 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="DOID:0050677", source="Orphanet:123"} xref: Orphanet:123 {source="MONDO:equivalentTo", source="OMIM:262000"} -xref: UMLS:C0266006 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262000", source="ORDO:123/e", source="Orphanet:123"} +xref: UMLS:C0266006 {source="NCBI:mim2gene_medline", source="Orphanet:123/e", source="MONDO:equivalentTo", source="OMIM:262000", source="Orphanet:123"} is_a: MONDO:0006025 {source="DOID:0050677", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019281 {source="Orphanet:123"} ! isolated genetic hair shaft abnormality is_a: MONDO:0044970 ! mitochondrial disease @@ -189036,7 +189001,7 @@ synonym: "PILODENTAL dysplasia with refractive errors" RELATED [OMIM:262020] synonym: "Trichodental dysplasia with hyperopia" RELATED [OMIM:262020] xref: GARD:0000277 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535763 {source="MONDO:equivalentTo"} -xref: OMIM:262020 {source="Orphanet:2892", source="ORDO:2892/e", source="MONDO:equivalentTo"} +xref: OMIM:262020 {source="Orphanet:2892", source="MONDO:equivalentTo", source="Orphanet:2892/e"} xref: Orphanet:2892 {source="MONDO:equivalentTo", source="OMIM:262020"} xref: UMLS:C1849805 {source="Orphanet:2892", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262020"} is_a: MONDO:0019287 {source="MESH:C535763", source="Orphanet:2892"} ! ectodermal dysplasia syndrome @@ -189052,14 +189017,14 @@ synonym: "Mendenhall syndrome" RELATED [OMIM:262190] synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [OMIM:262190] synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190] xref: GARD:0000226 {source="MONDO:equivalentTo"} -xref: ICD10CM:E13 {source="Orphanet:769", source="ORDO:769/attributed", source="ORDO:769/ntbt"} +xref: ICD10CM:E13 {source="Orphanet:769", source="Orphanet:769/attributed", source="Orphanet:769/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D056731 {source="ORDO:769/e", source="Orphanet:769", source="MONDO:directSiblingOf"} +xref: MESH:D056731 {source="Orphanet:769", source="MONDO:directSiblingOf", source="Orphanet:769/e"} xref: NCIT:C131000 {source="MONDO:equivalentTo"} -xref: OMIM:262190 {source="ORDO:769/e", source="MONDO:equivalentTo", source="Orphanet:769"} +xref: OMIM:262190 {source="MONDO:equivalentTo", source="Orphanet:769", source="Orphanet:769/e"} xref: Orphanet:769 {source="OMIM:262190", source="MONDO:equivalentTo"} xref: SCTID:33559001 {source="MONDO:equivalentTo"} -xref: UMLS:C0271695 {source="OMIM:262190", source="ORDO:769/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:769", source="NCIT:C131000"} +xref: UMLS:C0271695 {source="OMIM:262190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:769", source="NCIT:C131000", source="Orphanet:769/e"} is_a: MONDO:0002254 {source="NCIT:C131000"} ! syndromic disease is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus is_a: MONDO:0019280 {source="Orphanet:769"} ! hypertrichosis @@ -189135,10 +189100,10 @@ synonym: "primordial dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] synonym: "sexual ateleiotic dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] xref: DOID:0060873 {source="MONDO:equivalentTo"} xref: GARD:0007399 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="DOID:0060873", source="Orphanet:231662", source="ORDO:231662/attributed", source="ORDO:231662/ntbt"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:231662/attributed", source="Orphanet:231662/ntbt", source="DOID:0060873", source="Orphanet:231662"} xref: ICD9:259.4 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537404 {source="MONDO:equivalentTo"} -xref: OMIM:262400 {source="ORDO:231662/e", source="DOID:0060873", source="Orphanet:231662", source="MONDO:equivalentTo", source="GARD:0007399"} +xref: OMIM:262400 {source="DOID:0060873", source="Orphanet:231662", source="MONDO:equivalentTo", source="Orphanet:231662/e", source="GARD:0007399"} xref: Orphanet:231662 {source="DOID:0060873", source="MONDO:equivalentTo", source="GARD:0007399", source="OMIM:262400"} xref: Orphanet:631 {source="MONDO:subClassOf", source="GARD:0007399", source="OMIM:262400"} xref: SCTID:237837007 {source="MONDO:equivalentTo"} @@ -189171,13 +189136,13 @@ synonym: "primary growth hormone resistance" EXACT [Orphanet:633] synonym: "short stature due to growth hormone resistance" EXACT [Orphanet:633] xref: DOID:9521 {source="MONDO:equivalentTo"} xref: GARD:0006859 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E34.3 {source="Orphanet:633", source="ORDO:633/attributed", source="ORDO:633/ntbt", source="DOID:9521"} -xref: MESH:D046150 {source="Orphanet:633", source="MONDO:equivalentTo", source="ORDO:633/e", source="DOID:9521"} +xref: ICD10CM:E34.3 {source="Orphanet:633/attributed", source="Orphanet:633/ntbt", source="Orphanet:633", source="DOID:9521"} +xref: MESH:D046150 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"} xref: NCIT:C130994 {source="MONDO:equivalentTo"} -xref: OMIM:262500 {source="Orphanet:633", source="MONDO:equivalentTo", source="ORDO:633/e", source="DOID:9521"} +xref: OMIM:262500 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"} xref: Orphanet:633 {source="MONDO:equivalentTo", source="OMIM:262500"} xref: SCTID:38196001 {source="MONDO:equivalentTo", source="DOID:9521"} -xref: UMLS:C0271568 {source="MONDO:subClassOf", source="Orphanet:633", source="NCBI:mim2gene_medline", source="ORDO:633/e", source="DOID:9521", source="OMIM:262500"} +xref: UMLS:C0271568 {source="MONDO:subClassOf", source="Orphanet:633", source="NCBI:mim2gene_medline", source="Orphanet:633/e", source="DOID:9521", source="OMIM:262500"} is_a: MONDO:0002254 {source="MONDO:0009877/inferred", source="MONDO:Redundant", source="NCIT:C130994", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:9521", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015892 {source="Orphanet:633"} ! growth hormone insensitivity syndrome @@ -189202,8 +189167,8 @@ xref: OMIM:262600 {source="MONDO:equivalentTo"} xref: Orphanet:90695 {source="MONDO:subClassOf", source="OMIM:262600"} xref: Orphanet:95494 {source="MONDO:subClassOf", source="OMIM:262600"} xref: UMLS:C0878683 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262600"} -is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262600", source="ORDO:95494/btnt", source="indirect"} ! combined pituitary hormone deficiencies, genetic form -is_a: MONDO:0019591 {source="ORDO:90695/btnt"} ! panhypopituitarism +is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262600", source="Orphanet:95494/btnt", source="indirect"} ! combined pituitary hormone deficiencies, genetic form +is_a: MONDO:0019591 {source="Orphanet:90695/btnt"} ! panhypopituitarism intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9455 ! PROP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9455 {source="mim2gene_medgen"} ! PROP1 @@ -189219,9 +189184,9 @@ synonym: "KOWARSKI syndrome" RELATED [OMIM:262650] synonym: "Kowarski syndrome" EXACT [Orphanet:629] synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650] xref: GARD:0000408 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="ORDO:629/attributed", source="ORDO:629/ntbt", source="Orphanet:629"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:629", source="Orphanet:629/attributed", source="Orphanet:629/ntbt"} xref: MESH:C537505 {source="MONDO:equivalentTo"} -xref: OMIM:262650 {source="MONDO:equivalentTo", source="ORDO:629/e", source="Orphanet:629"} +xref: OMIM:262650 {source="MONDO:equivalentTo", source="Orphanet:629", source="Orphanet:629/e"} xref: Orphanet:629 {source="MONDO:equivalentTo", source="OMIM:262650"} xref: Orphanet:631 {source="MONDO:subClassOf", source="OMIM:262650"} xref: UMLS:C1849779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:629", source="OMIM:262650"} @@ -189244,7 +189209,7 @@ synonym: "short stature, pituitary and cerebellar defects and small sella turcic synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [OMIM:262700] xref: GARD:0010604 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C567492 {source="MONDO:equivalentTo"} -xref: OMIM:262700 {source="Orphanet:85442", source="MONDO:equivalentTo", source="ORDO:85442/e"} +xref: OMIM:262700 {source="Orphanet:85442", source="MONDO:equivalentTo", source="Orphanet:85442/e"} xref: Orphanet:85442 {source="OMIM:262700", source="MONDO:equivalentTo"} xref: UMLS:C2678408 {source="OMIM:262700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005152 {source="MESH:C567492/inferred", source="MONDO:Redundant", source="indirect"} ! hypopituitarism @@ -189290,9 +189255,9 @@ synonym: "congenital alpha2-antiplasmin deficiency" RELATED [Orphanet:79] synonym: "plasmin inhibitor deficiency" EXACT [DOID:0060601, OMIM:262850] xref: DOID:0060601 {source="MONDO:equivalentTo"} xref: GARD:0000731 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D68.8 {source="Orphanet:79", source="DOID:0060601", source="ORDO:79/attributed", source="ORDO:79/ntbt"} +xref: ICD10CM:D68.8 {source="Orphanet:79/attributed", source="Orphanet:79/ntbt", source="Orphanet:79", source="DOID:0060601"} xref: MESH:C537777 {source="MONDO:equivalentTo"} -xref: OMIM:262850 {source="ORDO:79/e", source="Orphanet:79", source="MONDO:equivalentTo", source="DOID:0060601"} +xref: OMIM:262850 {source="Orphanet:79", source="MONDO:equivalentTo", source="DOID:0060601", source="Orphanet:79/e"} xref: Orphanet:79 {source="MONDO:equivalentTo", source="DOID:0060601", source="OMIM:262850"} xref: SCTID:716746003 {source="MONDO:equivalentTo"} xref: UMLS:C2752081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:262850"} @@ -189332,12 +189297,12 @@ synonym: "Scott syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:262890] synonym: "SCTS" EXACT ABBREVIATION [DOID:0111052, MONDO:Lexical, OMIM:262890] xref: DOID:0111052 {source="MONDO:equivalentTo"} xref: GARD:0004777 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.8 {source="ORDO:806/attributed", source="ORDO:806/ntbt", source="DOID:0111052", source="Orphanet:806"} +xref: ICD10CM:D69.8 {source="DOID:0111052", source="Orphanet:806/attributed", source="Orphanet:806/ntbt", source="Orphanet:806"} xref: MESH:C563120 {source="MONDO:equivalentTo"} -xref: OMIM:262890 {source="DOID:0111052", source="MONDO:equivalentTo", source="ORDO:806/e", source="Orphanet:806"} +xref: OMIM:262890 {source="Orphanet:806/e", source="DOID:0111052", source="MONDO:equivalentTo", source="Orphanet:806"} xref: Orphanet:806 {source="DOID:0111052", source="MONDO:equivalentTo", source="OMIM:262890"} xref: SCTID:128098009 {source="MONDO:equivalentTo"} -xref: UMLS:C0796149 {source="NCBI:mim2gene_medline", source="DOID:0111052", source="MONDO:equivalentTo", source="ORDO:806/e", source="OMIM:262890", source="Orphanet:806"} +xref: UMLS:C0796149 {source="Orphanet:806/e", source="NCBI:mim2gene_medline", source="DOID:0111052", source="MONDO:equivalentTo", source="OMIM:262890", source="Orphanet:806"} is_a: MONDO:0000009 {source="DC-OMIM:262890", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:262890", source="indirect"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25240 {source="mim2gene_medgen"} ! ANO6 @@ -189373,17 +189338,17 @@ synonym: "RBILD" EXACT ABBREVIATION [DOID:0050158] synonym: "respiratory bronchiolitis interstitial lung disease" EXACT [NCIT:C35288] synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [DOID:0050158] xref: DOID:0050158 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.1 {source="Orphanet:98852", source="ORDO:98852/ntbt"} +xref: ICD10CM:J84.1 {source="Orphanet:98852/ntbt", source="Orphanet:98852"} xref: ICD10CM:J84.115 {source="DOID:0050158"} xref: ICD10CM:J84.117 {source="DOID:0050158"} xref: ICD9:516.34 {source="DOID:0050158"} xref: ICD9:516.37 {source="DOID:0050158"} xref: MESH:C562470 {source="DOID:0050158", source="MONDO:equivalentTo"} xref: NCIT:C35288 {source="DOID:0050158", source="MONDO:equivalentTo"} -xref: OMIM:263000 {source="DOID:0050158", source="MONDO:equivalentTo", source="ORDO:98852/btnt"} +xref: OMIM:263000 {source="Orphanet:98852/btnt", source="DOID:0050158", source="MONDO:equivalentTo"} xref: Orphanet:98852 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:263000"} xref: SCTID:8549006 {source="DOID:0050158", source="MONDO:equivalentTo"} -xref: UMLS:C0238378 {source="Orphanet:98852", source="DOID:0050158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35288", source="OMIM:263000", source="ORDO:98852/e"} +xref: UMLS:C0238378 {source="Orphanet:98852", source="DOID:0050158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35288", source="OMIM:263000", source="Orphanet:98852/e"} is_a: MONDO:0002429 {source="DOID:0050158", source="NCIT:C35288", source="Orphanet:98852", source="linkedlifedata"} ! idiopathic interstitial pneumonia [Term] @@ -189412,16 +189377,16 @@ synonym: "polycystic kidney disease, infantile type" EXACT [NCIT:C84579] synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861] xref: DOID:0110861 {source="MONDO:equivalentTo"} xref: GARD:0008378 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q61.1 {source="Orphanet:731", source="ORDO:731/specific", source="DOID:0110861", source="ORDO:731/e"} +xref: ICD10CM:Q61.1 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861", source="Orphanet:731/specific"} xref: ICD9:753.14 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10036047 {source="Orphanet:731", source="ORDO:731/e"} +xref: MedDRA:10036047 {source="Orphanet:731", source="Orphanet:731/e"} xref: MESH:D016891 {source="DOID:0110861"} -xref: MESH:D017044 {source="Orphanet:731", source="DOID:0110861", source="ORDO:731/e"} +xref: MESH:D017044 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861"} xref: NCIT:C84579 {source="MONDO:equivalentTo"} -xref: OMIM:263200 {source="Orphanet:731", source="MONDO:relatedTo", source="DOID:0110861", source="ORDO:731/e"} +xref: OMIM:263200 {source="Orphanet:731", source="MONDO:relatedTo", source="Orphanet:731/e", source="DOID:0110861"} xref: Orphanet:731 {source="MONDO:equivalentTo", source="OMIM:263200", source="DOID:0110861"} xref: SCTID:28770003 {source="MONDO:equivalentTo"} -xref: UMLS:C0085548 {source="NCIT:C84579", source="Orphanet:731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263200", source="DOID:0110861", source="ORDO:731/e"} +xref: UMLS:C0085548 {source="NCIT:C84579", source="Orphanet:731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:731/e", source="OMIM:263200", source="DOID:0110861"} is_a: MONDO:0005372 ! male infertility is_a: MONDO:0006025 {source="DOID:0110861", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019741 {source="Orphanet:731"} ! familial cystic renal disease @@ -189468,13 +189433,13 @@ xref: DOID:8997 {source="MONDO:equivalentTo", source="EFO:0002429"} xref: EFO:0002429 {source="MONDO:equivalentTo"} xref: GARD:0007422 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:D37-D48 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:D45 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729"} +xref: ICD10CM:D45 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729"} xref: ICD9:238.4 {source="DOID:8997", source="EFO:0002429"} xref: ICDO:9950/3 {source="NCIT:C3336"} -xref: MedDRA:10036057 {source="ORDO:729/e", source="Orphanet:729"} -xref: MESH:D011087 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729", source="EFO:0002429"} +xref: MedDRA:10036057 {source="Orphanet:729/e", source="Orphanet:729"} +xref: MESH:D011087 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729", source="EFO:0002429"} xref: NCIT:C3336 {source="DOID:8997", source="MONDO:equivalentTo", source="exact-label-match", source="EFO:0002429"} -xref: OMIM:263300 {source="DOID:8997", source="MONDO:equivalentTo", source="ORDO:729/e", source="Orphanet:729", source="EFO:0002429"} +xref: OMIM:263300 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729", source="EFO:0002429"} xref: ONCOTREE:PV {source="MONDO:equivalentTo"} xref: Orphanet:729 {source="MONDO:equivalentTo", source="OMIM:263300"} xref: SCTID:109992005 {source="DOID:8997"} @@ -189484,7 +189449,7 @@ xref: SCTID:154644004 {source="DOID:8997"} xref: SCTID:269652000 {source="DOID:8997"} xref: SCTID:278190000 {source="DOID:8997"} xref: SCTID:31569001 {source="DOID:8997"} -xref: UMLS:C0032463 {source="DOID:8997", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:729/e", source="NCIT:C3336", source="OMIM:263300", source="Orphanet:729"} +xref: UMLS:C0032463 {source="Orphanet:729/e", source="DOID:8997", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3336", source="OMIM:263300", source="Orphanet:729"} is_a: MONDO:0005571 {source="DOID:8997", source="EFO:0002429", source="NCIT:C3336", source="Orphanet:729"} ! polycythemia is_a: MONDO:0020076 {source="EFO:0002429", source="MONDO:Redundant", source="NCIT:C3336", source="ONCOTREE:PV", source="Orphanet:729"} ! myeloproliferative neoplasm is_a: MONDO:0020703 {source="NCIT:C3336"} ! erythroid neoplasm @@ -189513,9 +189478,9 @@ synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400] synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557] xref: DOID:0060474 {source="MONDO:equivalentTo"} -xref: ICD10CM:D75.1 {source="DOID:0060474", source="Orphanet:238557", source="ORDO:238557/attributed", source="ORDO:238557/ntbt"} +xref: ICD10CM:D75.1 {source="Orphanet:238557/attributed", source="Orphanet:238557/ntbt", source="DOID:0060474", source="Orphanet:238557"} xref: MESH:C563918 {source="MONDO:equivalentTo"} -xref: OMIM:263400 {source="ORDO:238557/e", source="DOID:0060474", source="Orphanet:238557", source="MONDO:equivalentTo"} +xref: OMIM:263400 {source="DOID:0060474", source="Orphanet:238557", source="MONDO:equivalentTo", source="Orphanet:238557/e"} xref: Orphanet:238557 {source="DOID:0060474", source="MONDO:equivalentTo", source="OMIM:263400"} xref: UMLS:C1837915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263400"} is_a: MONDO:0001115 {source="DC-OMIM:263400", source="DOID:0060474", source="MONDO:Redundant", source="OMIM:263400"} ! familial polycythemia @@ -189533,7 +189498,7 @@ synonym: "polydactyly, postaxial, type A5" EXACT [MONDO:Lexical, OMIM:263450] xref: OMIM:263450 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="MONDO:subClassOf", source="OMIM:263450"} xref: UMLS:C3550661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263450"} -is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A +is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A property_value: confidence "0.7021276595744683" xsd:double [Term] @@ -189560,7 +189525,7 @@ xref: Orphanet:93269 {source="MONDO:subClassOf", source="OMIM:263520"} xref: UMLS:C0024507 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:263520", source="NCIT:C122654"} is_a: MONDO:0015461 {source="MONDO:Redundant", source="NCIT:C122654", source="indirect"} ! short rib-polydactyly syndrome is_a: MONDO:0018770 {source="DOID:0110092", source="OMIM:263520"} ! Jeune syndrome -is_a: MONDO:0019662 {source="ORDO:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type +is_a: MONDO:0019662 {source="Orphanet:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7744 {source="mim2gene_medgen"} ! NEK1 property_value: confidence "0.7173913043478257" xsd:double @@ -189570,9 +189535,9 @@ name: postaxial polydactyly-dental and vertebral anomalies syndrome def: "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." [Orphanet:2916] subset: ordo_malformation_syndrome {source="Orphanet:2916"} synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [OMIM:263540] -xref: ICD10CM:Q87.2 {source="ORDO:2916/attributed", source="ORDO:2916/ntbt", source="Orphanet:2916"} +xref: ICD10CM:Q87.2 {source="Orphanet:2916/attributed", source="Orphanet:2916/ntbt", source="Orphanet:2916"} xref: MESH:C564880 {source="MONDO:equivalentTo"} -xref: OMIM:263540 {source="MONDO:equivalentTo", source="ORDO:2916/e", source="Orphanet:2916"} +xref: OMIM:263540 {source="Orphanet:2916/e", source="MONDO:equivalentTo", source="Orphanet:2916"} xref: Orphanet:2916 {source="MONDO:equivalentTo", source="OMIM:263540"} xref: UMLS:C1849732 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263540", source="Orphanet:2916"} is_a: MONDO:0021147 {source="Orphanet:2916", source="Orphanet:2916/inferred"} ! disorder of development or morphogenesis @@ -189600,9 +189565,9 @@ synonym: "polyglucosan body disease, adult" RELATED [GARD:0000108] synonym: "polyglucosan body disease, adult form" RELATED [OMIM:263570] synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical, OMIM:263570] xref: GARD:0000108 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:206583/attributed", source="ORDO:206583/ntbt", source="Orphanet:206583"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:206583/attributed", source="Orphanet:206583/ntbt", source="Orphanet:206583"} xref: MESH:C564878 {source="MONDO:equivalentTo"} -xref: OMIM:263570 {source="MONDO:equivalentTo", source="ORDO:206583/e", source="Orphanet:206583"} +xref: OMIM:263570 {source="Orphanet:206583/e", source="MONDO:equivalentTo", source="Orphanet:206583"} xref: Orphanet:206583 {source="MONDO:equivalentTo", source="OMIM:263570"} xref: SCTID:721099001 {source="MONDO:equivalentTo"} xref: UMLS:C1849722 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:263570", source="Orphanet:206583"} @@ -189641,9 +189606,9 @@ synonym: "Bonneau syndrome" EXACT [OMIM:263630, Orphanet:2934] synonym: "polysyndactyly cardiac malformation" RELATED [GARD:0004428] synonym: "polysyndactyly with CARDIAC malformation" RELATED [OMIM:263630] xref: GARD:0004428 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2934/attributed", source="ORDO:2934/ntbt", source="Orphanet:2934"} +xref: ICD10CM:Q87.8 {source="Orphanet:2934/attributed", source="Orphanet:2934/ntbt", source="Orphanet:2934"} xref: MESH:C564875 {source="MONDO:equivalentTo"} -xref: OMIM:263630 {source="MONDO:equivalentTo", source="ORDO:2934/e", source="Orphanet:2934"} +xref: OMIM:263630 {source="Orphanet:2934/e", source="MONDO:equivalentTo", source="Orphanet:2934"} xref: Orphanet:2934 {source="MONDO:equivalentTo", source="OMIM:263630"} xref: SCTID:724066002 {source="MONDO:equivalentTo"} xref: UMLS:C1849719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263630", source="Orphanet:2934"} @@ -189671,9 +189636,9 @@ synonym: "popliteal pterygium syndrome, lethal type" RELATED [OMIM:263650] synonym: "pterygium popliteal lethal type" RELATED [GARD:0004436] synonym: "pterygium, popliteal, lethal type" RELATED [OMIM:263650] xref: GARD:0004436 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:1234", source="ORDO:1234/attributed", source="ORDO:1234/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:1234/attributed", source="Orphanet:1234/ntbt", source="Orphanet:1234"} xref: MESH:C564874 {source="MONDO:equivalentTo"} -xref: OMIM:263650 {source="ORDO:1234/e", source="Orphanet:1234", source="MONDO:equivalentTo"} +xref: OMIM:263650 {source="Orphanet:1234", source="MONDO:equivalentTo", source="Orphanet:1234/e"} xref: Orphanet:1234 {source="MONDO:equivalentTo", source="OMIM:263650"} xref: SCTID:722376008 {source="MONDO:equivalentTo"} xref: UMLS:C1849718 {source="NCBI:mim2gene_medline", source="Orphanet:1234", source="MONDO:equivalentTo", source="OMIM:263650"} @@ -189704,10 +189669,10 @@ synonym: "uroporphyrinogen III synthase, deficiency of" RELATED [GARD:0004446] synonym: "Uros deficiency" RELATED [OMIM:263700] xref: DOID:13271 {source="MONDO:equivalentTo"} xref: GARD:0004446 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E80.0 {source="ORDO:79277/inclusion", source="ORDO:79277/ntbt", source="DOID:13271", source="Orphanet:79277"} +xref: ICD10CM:E80.0 {source="DOID:13271", source="Orphanet:79277/inclusion", source="Orphanet:79277/ntbt", source="Orphanet:79277"} xref: MESH:D017092 {source="DOID:13271", source="MONDO:equivalentTo"} xref: NCIT:C84697 {source="DOID:13271", source="MONDO:equivalentTo"} -xref: OMIM:263700 {source="DOID:13271", source="MONDO:equivalentTo", source="ORDO:79277/e", source="Orphanet:79277"} +xref: OMIM:263700 {source="Orphanet:79277/e", source="DOID:13271", source="MONDO:equivalentTo", source="Orphanet:79277"} xref: Orphanet:79277 {source="MONDO:equivalentTo", source="OMIM:263700"} xref: SCTID:190913009 {source="DOID:13271"} xref: SCTID:22935002 {source="DOID:13271"} @@ -189739,10 +189704,10 @@ synonym: "postaxial acrofacial dysostosis (POADS) syndrome" RELATED [GARD:000841 synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410] xref: DOID:0111259 {source="MONDO:equivalentTo"} xref: GARD:0008410 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.4 {source="Orphanet:246", source="ORDO:246/attributed", source="ORDO:246/ntbt"} +xref: ICD10CM:Q75.4 {source="Orphanet:246", source="Orphanet:246/attributed", source="Orphanet:246/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537680 {source="MONDO:equivalentTo"} -xref: OMIM:263750 {source="Orphanet:246", source="MONDO:equivalentTo", source="ORDO:246/e"} +xref: OMIM:263750 {source="Orphanet:246", source="MONDO:equivalentTo", source="Orphanet:246/e"} xref: Orphanet:246 {source="MONDO:equivalentTo", source="OMIM:263750"} xref: SCTID:66038001 {source="MONDO:equivalentTo"} xref: UMLS:C0265257 {source="Orphanet:246", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:263750"} @@ -189771,16 +189736,16 @@ synonym: "Potassium and magnesium depletion" RELATED [OMIM:263800] synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [Orphanet:358] xref: DOID:0050450 {source="MONDO:equivalentTo"} xref: GARD:0008547 {source="MONDO:equivalentTo"} -xref: ICD10CM:N15.8 {source="Orphanet:358", source="ORDO:358/attributed", source="ORDO:358/ntbt"} +xref: ICD10CM:N15.8 {source="Orphanet:358/attributed", source="Orphanet:358/ntbt", source="Orphanet:358"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062906 {source="Orphanet:358", source="ORDO:358/e"} -xref: MESH:D053579 {source="Orphanet:358", source="MONDO:equivalentTo", source="DOID:0050450", source="ORDO:358/e"} +xref: MedDRA:10062906 {source="Orphanet:358", source="Orphanet:358/e"} +xref: MESH:D053579 {source="Orphanet:358", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450"} xref: NCIT:C84730 {source="MONDO:equivalentTo", source="DOID:0050450"} -xref: OMIM:263800 {source="Orphanet:358", source="MONDO:equivalentTo", source="DOID:0050450", source="ORDO:358/e"} +xref: OMIM:263800 {source="Orphanet:358", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450"} xref: Orphanet:358 {source="OMIM:263800", source="MONDO:equivalentTo"} xref: SCTID:3188003 {source="DOID:0050450"} xref: SCTID:707756004 {source="MONDO:equivalentTo", source="DOID:0050450"} -xref: UMLS:C0268450 {source="OMIM:263800", source="Orphanet:358", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050450", source="ORDO:358/e", source="NCIT:C84730"} +xref: UMLS:C0268450 {source="OMIM:263800", source="Orphanet:358", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450", source="NCIT:C84730"} is_a: MONDO:0002254 {source="NCIT:C84730"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0006510 {source="DOID:0050450", source="MESH:D053579"} ! renal tubular transport disease @@ -189799,9 +189764,9 @@ synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [OMIM:264 synonym: "Prader-Willi habitus-osteopenia-camptodactyly syndrome" EXACT [Orphanet:3409] synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010] xref: GARD:0005426 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3409/attributed", source="ORDO:3409/ntbt", source="Orphanet:3409"} +xref: ICD10CM:Q87.8 {source="Orphanet:3409/attributed", source="Orphanet:3409/ntbt", source="Orphanet:3409"} xref: MESH:C538276 {source="MONDO:equivalentTo"} -xref: OMIM:264010 {source="MONDO:equivalentTo", source="ORDO:3409/e", source="Orphanet:3409"} +xref: OMIM:264010 {source="Orphanet:3409/e", source="MONDO:equivalentTo", source="Orphanet:3409"} xref: Orphanet:3409 {source="MONDO:equivalentTo", source="OMIM:264010"} xref: SCTID:716334004 {source="MONDO:equivalentTo"} xref: UMLS:C0796189 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264010", source="Orphanet:3409"} @@ -189818,7 +189783,7 @@ xref: MESH:C564873 {source="MONDO:equivalentTo"} xref: OMIM:264050 {source="MONDO:equivalentTo"} xref: Orphanet:2292 {source="MONDO:subClassOf", source="OMIM:264050"} xref: UMLS:C1849701 {source="OMIM:264050", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0008882 {source="ORDO:2292/btnt"} ! congenital bowing of long bones +is_a: MONDO:0008882 {source="Orphanet:2292/btnt"} ! congenital bowing of long bones property_value: confidence "2.8571428571428568" xsd:double [Term] @@ -189854,10 +189819,10 @@ synonym: "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" EXACT CLINGEN_P synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [Orphanet:1578] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" RELATED [GARD:0002843] xref: GARD:0002843 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E70.1 {source="ORDO:1578/attributed", source="ORDO:1578/ntbt", source="Orphanet:1578"} +xref: ICD10CM:E70.1 {source="Orphanet:1578", source="Orphanet:1578/attributed", source="Orphanet:1578/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538382 {source="MONDO:equivalentTo"} -xref: OMIM:264070 {source="MONDO:equivalentTo", source="Orphanet:1578", source="ORDO:1578/e"} +xref: OMIM:264070 {source="MONDO:equivalentTo", source="Orphanet:1578", source="Orphanet:1578/e"} xref: Orphanet:1578 {source="OMIM:264070", source="MONDO:equivalentTo"} xref: Orphanet:238583 {source="MONDO:subClassOf", source="OMIM:264070"} xref: SCTID:124646004 {source="MONDO:equivalentTo"} @@ -189889,14 +189854,14 @@ synonym: "progeroid syndrome, neonatal" RELATED [OMIM:264090] synonym: "Wiedemann Rautenstrauch syndrome" RELATED [GARD:0000330] synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [OMIM:264090] xref: GARD:0000330 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E34.8 {source="Orphanet:3455", source="ORDO:3455/attributed", source="ORDO:3455/ntbt"} +xref: ICD10CM:E34.8 {source="Orphanet:3455", source="Orphanet:3455/attributed", source="Orphanet:3455/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536423 {source="Orphanet:3455", source="ORDO:3455/e", source="MONDO:equivalentTo"} +xref: MESH:C536423 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"} xref: NCIT:C121565 {source="MONDO:equivalentTo"} -xref: OMIM:264090 {source="Orphanet:3455", source="ORDO:3455/e", source="MONDO:equivalentTo"} +xref: OMIM:264090 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"} xref: Orphanet:3455 {source="MONDO:equivalentTo", source="OMIM:264090"} xref: SCTID:238874008 {source="MONDO:equivalentTo"} -xref: UMLS:C0406586 {source="Orphanet:3455", source="ORDO:3455/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C121565", source="OMIM:264090"} +xref: UMLS:C0406586 {source="Orphanet:3455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3455/e", source="NCIT:C121565", source="OMIM:264090"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3455", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:3455"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015333 {source="DC-OMIM:264090", source="Orphanet:3455"} ! progeroid syndrome @@ -189948,13 +189913,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:85174"} synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463] synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180] xref: GARD:0009463 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:85174/attributed", source="ORDO:85174/ntbt", source="Orphanet:85174"} +xref: ICD10CM:Q78.8 {source="Orphanet:85174/attributed", source="Orphanet:85174/ntbt", source="Orphanet:85174"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535826 {source="MONDO:equivalentTo", source="ORDO:85174/e", source="Orphanet:85174"} -xref: OMIM:264180 {source="MONDO:equivalentTo", source="ORDO:85174/e", source="Orphanet:85174"} +xref: MESH:C535826 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} +xref: OMIM:264180 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} xref: Orphanet:85174 {source="OMIM:264180", source="MONDO:equivalentTo"} xref: SCTID:254058002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432206 {source="OMIM:264180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85174/e", source="Orphanet:85174"} +xref: UMLS:C0432206 {source="OMIM:264180", source="Orphanet:85174/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85174"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:294049", source="Orphanet:85174"} ! obsolete primary bone dysplasia with multiple joint dislocations property_value: confidence "8.375" xsd:double @@ -189966,9 +189931,9 @@ name: 46,XX disorder of sex development-skeletal anomalies syndrome subset: ordo_malformation_syndrome {source="Orphanet:2975"} synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [Orphanet:2975] synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [OMIM:264270] -xref: ICD10CM:Q56.2 {source="ORDO:2975/attributed", source="ORDO:2975/ntbt", source="Orphanet:2975"} +xref: ICD10CM:Q56.2 {source="Orphanet:2975", source="Orphanet:2975/attributed", source="Orphanet:2975/ntbt"} xref: MESH:C564869 {source="MONDO:equivalentTo"} -xref: OMIM:264270 {source="MONDO:equivalentTo", source="Orphanet:2975", source="ORDO:2975/e"} +xref: OMIM:264270 {source="MONDO:equivalentTo", source="Orphanet:2975", source="Orphanet:2975/e"} xref: Orphanet:2975 {source="OMIM:264270", source="MONDO:equivalentTo"} xref: UMLS:C1849696 {source="OMIM:264270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2975"} is_a: MONDO:0017576 {source="Orphanet:2975"} ! 46,XX disorder of sex development @@ -190001,14 +189966,14 @@ synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300] synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300] xref: GARD:0005659 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E29.1 {source="Orphanet:752", source="ORDO:752/attributed", source="ORDO:752/ntbt"} +xref: ICD10CM:E29.1 {source="Orphanet:752", source="Orphanet:752/attributed", source="Orphanet:752/ntbt"} xref: MESH:C537805 {source="MONDO:equivalentTo"} xref: MESH:C564868 {source="MONDO:equivalentTo"} xref: NCIT:C120203 {source="MONDO:equivalentTo"} -xref: OMIM:264300 {source="Orphanet:752", source="MONDO:equivalentTo", source="ORDO:752/e"} +xref: OMIM:264300 {source="Orphanet:752", source="MONDO:equivalentTo", source="Orphanet:752/e"} xref: Orphanet:752 {source="MONDO:equivalentTo", source="OMIM:264300"} xref: SCTID:50658006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268296 {source="Orphanet:752", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:264300", source="ORDO:752/e"} +xref: UMLS:C0268296 {source="Orphanet:752", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:752/e", source="OMIM:264300"} xref: UMLS:C1849695 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:264300"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0005372 {source="MONDO:0018388-obsoleted"} ! male infertility @@ -190039,9 +190004,9 @@ synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552] synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350] xref: DOID:0060854 {source="MONDO:equivalentTo"} xref: GARD:0004552 {source="MONDO:equivalentTo"} -xref: ICD10CM:N25.8 {source="DOID:0060854", source="ORDO:171876/attributed", source="ORDO:171876/ntbt", source="Orphanet:171876"} +xref: ICD10CM:N25.8 {source="Orphanet:171876/attributed", source="Orphanet:171876/ntbt", source="DOID:0060854", source="Orphanet:171876"} xref: MESH:D011546 {source="MONDO:subClassOf", source="DOID:0060854"} -xref: OMIM:264350 {source="MONDO:equivalentTo", source="DOID:0060854", source="ORDO:171876/e", source="Orphanet:171876"} +xref: OMIM:264350 {source="Orphanet:171876/e", source="MONDO:equivalentTo", source="DOID:0060854", source="Orphanet:171876"} xref: Orphanet:171876 {source="OMIM:264350", source="MONDO:equivalentTo", source="DOID:0060854"} xref: Orphanet:756 {source="MONDO:subClassOf", source="OMIM:264350", source="DOID:0060854"} xref: UMLS:C0268436 {source="MONDO:subClassOf", source="DOID:0060854"} @@ -190064,7 +190029,7 @@ xref: MESH:C535828 {source="MONDO:equivalentTo"} xref: OMIM:264420 {source="MONDO:equivalentTo"} xref: Orphanet:59181 {source="MONDO:subClassOf", source="OMIM:264420"} xref: UMLS:C1849694 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264420"} -is_a: MONDO:0007640 {source="ORDO:59181/btnt"} ! Sorsby fundus dystrophy +is_a: MONDO:0007640 {source="Orphanet:59181/btnt"} ! Sorsby fundus dystrophy property_value: confidence "1.6470588235294117" xsd:double [Term] @@ -190082,14 +190047,14 @@ synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [OMIM:264470] synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470] xref: DOID:0050797 {source="MONDO:equivalentTo"} xref: GARD:0004543 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.3 {source="Orphanet:2971", source="ORDO:2971/attributed", source="ORDO:2971/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:2971", source="Orphanet:2971/attributed", source="Orphanet:2971/ntbt"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536662 {source="Orphanet:2971", source="ORDO:2971/e", source="DOID:0050797", source="MONDO:equivalentTo"} -xref: OMIM:264470 {source="Orphanet:2971", source="ORDO:2971/e", source="DOID:0050797", source="MONDO:equivalentTo"} +xref: MESH:C536662 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"} +xref: OMIM:264470 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"} xref: Orphanet:2971 {source="OMIM:264470", source="MONDO:equivalentTo"} xref: SCTID:238069004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342871 {source="Orphanet:2971", source="ORDO:2971/e", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1849678 {source="Orphanet:2971", source="ORDO:2971/e", source="DOID:0050797", source="NCBI:mim2gene_medline", source="OMIM:264470", source="MONDO:equivalentTo"} +xref: UMLS:C0342871 {source="Orphanet:2971", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2971/e"} +xref: UMLS:C1849678 {source="Orphanet:2971", source="DOID:0050797", source="NCBI:mim2gene_medline", source="OMIM:264470", source="MONDO:equivalentTo", source="Orphanet:2971/e"} is_a: MONDO:0019233 {source="Orphanet:2971", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/119 {source="mim2gene_medgen"} ! ACOX1 property_value: confidence "4.277777777777779" xsd:double @@ -190104,9 +190069,9 @@ synonym: "acrootoocular syndrome" EXACT [OMIM:264475] synonym: "Aoo syndrome" RELATED [OMIM:264475] synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [OMIM:264475] synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [Orphanet:2980] -xref: ICD10CM:Q87.0 {source="Orphanet:2980", source="ORDO:2980/attributed", source="ORDO:2980/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2980", source="Orphanet:2980/attributed", source="Orphanet:2980/ntbt"} xref: MESH:C564866 {source="MONDO:equivalentTo"} -xref: OMIM:264475 {source="Orphanet:2980", source="ORDO:2980/e", source="MONDO:equivalentTo"} +xref: OMIM:264475 {source="Orphanet:2980", source="MONDO:equivalentTo", source="Orphanet:2980/e"} xref: Orphanet:2980 {source="MONDO:equivalentTo", source="OMIM:264475"} xref: SCTID:720410001 {source="MONDO:equivalentTo"} xref: UMLS:C1849661 {source="Orphanet:2980", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264475"} @@ -190125,13 +190090,13 @@ synonym: "pseudo-trisomy 13 syndrome" EXACT [Orphanet:2166] synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [OMIM:264480] synonym: "Young-Maders syndrome" RELATED [GARD:0000344] xref: GARD:0000344 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2166", source="ORDO:2166/attributed", source="ORDO:2166/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2166", source="Orphanet:2166/attributed", source="Orphanet:2166/ntbt"} xref: MESH:C535829 {source="MONDO:equivalentTo"} xref: NCIT:C125418 {source="MONDO:equivalentTo"} -xref: OMIM:264480 {source="Orphanet:2166", source="ORDO:2166/e", source="MONDO:equivalentTo"} +xref: OMIM:264480 {source="Orphanet:2166", source="MONDO:equivalentTo", source="Orphanet:2166/e"} xref: Orphanet:2166 {source="OMIM:264480", source="MONDO:equivalentTo"} xref: SCTID:716091000 {source="MONDO:equivalentTo"} -xref: UMLS:C1849649 {source="Orphanet:2166", source="ORDO:2166/e", source="OMIM:264480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C125418"} +xref: UMLS:C1849649 {source="Orphanet:2166", source="OMIM:264480", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2166/e", source="NCIT:C125418"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2166", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125418", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2166"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -190165,11 +190130,11 @@ synonym: "PPSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264600] synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:264600, Orphanet:753] synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753] xref: GARD:0005680 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q56.1 {source="Orphanet:753", source="ORDO:753/attributed", source="ORDO:753/ntbt"} -xref: MedDRA:10000029 {source="Orphanet:753", source="ORDO:753/e"} +xref: ICD10CM:Q56.1 {source="Orphanet:753", source="Orphanet:753/attributed", source="Orphanet:753/ntbt"} +xref: MedDRA:10000029 {source="Orphanet:753", source="Orphanet:753/e"} xref: MESH:C535830 {source="MONDO:equivalentTo"} xref: NCIT:C98699 {source="MONDO:equivalentTo"} -xref: OMIM:264600 {source="Orphanet:753", source="MONDO:equivalentTo", source="ORDO:753/e"} +xref: OMIM:264600 {source="Orphanet:753", source="MONDO:equivalentTo", source="Orphanet:753/e"} xref: Orphanet:753 {source="MONDO:equivalentTo", source="OMIM:264600"} xref: SCTID:57514000 {source="MONDO:equivalentTo"} xref: UMLS:C0268297 {source="Orphanet:753", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C98699", source="OMIM:264600"} @@ -190204,11 +190169,11 @@ synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] synonym: "vitamin D dependent rickets type I" EXACT [Orphanet:289157] synonym: "vitamin D-dependency type I" EXACT [Orphanet:289157] synonym: "vitamin D-dependent rickets type 1" EXACT [NCIT:C131073] -xref: ICD10CM:E55.0 {source="Orphanet:289157", source="ORDO:289157/attributed", source="ORDO:289157/ntbt"} +xref: ICD10CM:E55.0 {source="Orphanet:289157/attributed", source="Orphanet:289157/ntbt", source="Orphanet:289157"} xref: MESH:C562688 {source="MONDO:equivalentTo"} xref: NCIT:C131073 {source="MONDO:equivalentTo"} -xref: OMIM:264700 {source="ORDO:289157/e", source="Orphanet:289157", source="MONDO:superClassOf"} -xref: OMIM:600081 {source="Orphanet:289157", source="MONDO:superClassOf", source="ORDO:289157/btnt"} +xref: OMIM:264700 {source="Orphanet:289157", source="MONDO:superClassOf", source="Orphanet:289157/e"} +xref: OMIM:600081 {source="Orphanet:289157/btnt", source="Orphanet:289157", source="MONDO:superClassOf"} xref: Orphanet:289157 {source="MONDO:equivalentTo", source="OMIM:264700"} xref: SCTID:67049004 {source="MONDO:equivalentTo"} xref: UMLS:C0268689 {source="Orphanet:289157", source="NCIT:C131073", source="NCBI:mim2gene_medline", source="OMIM:264700"} @@ -190231,13 +190196,13 @@ synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [OMIM:26480 synonym: "PXE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264800, Orphanet:758] synonym: "PXE, modifier of severity of" RELATED [OMIM:264800] xref: DOID:2738 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:758/index", source="Orphanet:758", source="ORDO:758/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:758", source="Orphanet:758/index", source="Orphanet:758/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10037150 {source="ORDO:758/e", source="Orphanet:758"} -xref: MESH:D011561 {source="ORDO:758/e", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738"} +xref: MedDRA:10037150 {source="Orphanet:758", source="Orphanet:758/e"} +xref: MESH:D011561 {source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/e"} xref: NCIT:C85036 {source="MONDO:equivalentTo", source="DOID:2738"} -xref: OMIM:177850 {source="MONDO:superClassOf", source="Orphanet:758", source="ORDO:758/btnt", source="DOID:2738"} -xref: OMIM:264800 {source="ORDO:758/e", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738"} +xref: OMIM:177850 {source="MONDO:superClassOf", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/btnt"} +xref: OMIM:264800 {source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/e"} xref: Orphanet:758 {source="MONDO:equivalentTo", source="DOID:2738", source="OMIM:264800"} xref: SCTID:157017000 {source="DOID:2738"} xref: SCTID:205574000 {source="DOID:2738"} @@ -190247,7 +190212,7 @@ xref: SCTID:268355000 {source="DOID:2738"} xref: SCTID:402782006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:7109007 {source="DOID:2738"} xref: SCTID:72744008 {source="MONDO:equivalentTo"} -xref: UMLS:C0033847 {source="ORDO:758/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="NCIT:C85036", source="OMIM:264800"} +xref: UMLS:C0033847 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="NCIT:C85036", source="Orphanet:758/e", source="OMIM:264800"} xref: UMLS:C0376359 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:264800"} xref: UMLS:C3279392 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:264800"} xref: UMLS:C3279393 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:264800"} @@ -190292,10 +190257,10 @@ synonym: "pterygium syndrome" RELATED [GARD:0007111, OMIM:265000] synonym: "pterygium Universale" RELATED [OMIM:265000] synonym: "pterygium universale" RELATED [GARD:0007111] xref: GARD:0007111 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.8 {source="Orphanet:2990", source="ORDO:2990/attributed", source="ORDO:2990/ntbt"} +xref: ICD10CM:Q79.8 {source="Orphanet:2990", source="Orphanet:2990/attributed", source="Orphanet:2990/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C101039 {source="MONDO:equivalentTo"} -xref: OMIM:265000 {source="Orphanet:2990", source="MONDO:equivalentTo", source="GARD:0007111", source="ORDO:2990/e"} +xref: OMIM:265000 {source="Orphanet:2990", source="MONDO:equivalentTo", source="Orphanet:2990/e", source="GARD:0007111"} xref: Orphanet:2990 {source="MONDO:equivalentTo", source="OMIM:265000", source="GARD:0007111"} xref: SCTID:80773006 {source="MONDO:equivalentTo"} xref: UMLS:C0265261 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:265000", source="NCIT:C101039"} @@ -190347,16 +190312,16 @@ subset: ordo_disease {source="Orphanet:60025"} synonym: "pulmonary alveolar microlithiasis" EXACT CLINGEN_PREFERRED [OMIM:265100] xref: DOID:12117 {source="MONDO:equivalentTo"} xref: GARD:0011894 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.0 {source="Orphanet:60025", source="ORDO:60025/inclusion", source="ORDO:60025/ntbt"} +xref: ICD10CM:J84.0 {source="Orphanet:60025/ntbt", source="Orphanet:60025/inclusion", source="Orphanet:60025"} xref: ICD10CM:J84.02 {source="DOID:12117", source="MONDO:equivalentTo"} xref: ICD9:516.2 {source="DOID:12117", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10037315 {source="ORDO:60025/e", source="Orphanet:60025"} +xref: MedDRA:10037315 {source="Orphanet:60025", source="Orphanet:60025/e"} xref: MESH:C562405 {source="DOID:12117", source="MONDO:equivalentTo"} -xref: OMIM:265100 {source="DOID:12117", source="ORDO:60025/e", source="Orphanet:60025", source="MONDO:equivalentTo"} +xref: OMIM:265100 {source="DOID:12117", source="Orphanet:60025", source="MONDO:equivalentTo", source="Orphanet:60025/e"} xref: Orphanet:60025 {source="MONDO:equivalentTo", source="OMIM:265100"} xref: SCTID:196160008 {source="DOID:12117"} xref: SCTID:87153008 {source="DOID:12117", source="MONDO:equivalentTo"} -xref: UMLS:C0155912 {source="DOID:12117", source="ORDO:60025/e", source="Orphanet:60025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265100"} +xref: UMLS:C0155912 {source="DOID:12117", source="Orphanet:60025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265100", source="Orphanet:60025/e"} is_a: MONDO:0005087 {source="Orphanet:60025"} ! respiratory system disorder is_a: MONDO:0005275 {source="DOID:12117", source="MESH:C562405", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11020 {source="mim2gene_medgen"} ! SLC34A2 @@ -190378,9 +190343,9 @@ synonym: "SMDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, 1" EXACT [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1, OMIM:265120] xref: GARD:0004595 {source="MONDO:equivalentTo"} -xref: ICD10CM:P28.0 {source="ORDO:217563/ntbt", source="ORDO:217563/index", source="Orphanet:217563"} +xref: ICD10CM:P28.0 {source="Orphanet:217563/ntbt", source="Orphanet:217563", source="Orphanet:217563/index"} xref: MESH:C566882 {source="MONDO:equivalentTo"} -xref: OMIM:265120 {source="MONDO:equivalentTo", source="ORDO:217563/e", source="Orphanet:217563"} +xref: OMIM:265120 {source="Orphanet:217563/e", source="MONDO:equivalentTo", source="Orphanet:217563"} xref: Orphanet:217563 {source="OMIM:265120", source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="MONDO:subClassOf", source="OMIM:265120"} xref: UMLS:C1968602 {source="OMIM:265120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -190406,11 +190371,11 @@ synonym: "pulmonary arteriovenous malformation (disease)" EXACT [https://orcid.o synonym: "pulmonary AV fistula" EXACT [NCIT:C99029] xref: GARD:0004584 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared"} xref: HP:0006548 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q25.7 {source="Orphanet:2038", source="ORDO:2038/ntbt"} -xref: MedDRA:10037332 {source="Orphanet:2038", source="ORDO:2038/e"} +xref: ICD10CM:Q25.7 {source="Orphanet:2038/ntbt", source="Orphanet:2038"} +xref: MedDRA:10037332 {source="Orphanet:2038", source="Orphanet:2038/e"} xref: MESH:C562404 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C99029 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:265140 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="ORDO:2038/e"} +xref: OMIM:265140 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="Orphanet:2038/e"} xref: Orphanet:2038 {source="OMIM:265140", source="MONDO:obsoleteEquivalent"} xref: SCTID:303070000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0155675 {source="OMIM:265140", source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="NCBI:mim2gene_medline", source="NCIT:C99029"} @@ -190429,13 +190394,13 @@ subset: ordo_morphological_anomaly {source="Orphanet:1208"} synonym: "pulmonary atresia with intact ventricular septum" RELATED [OMIM:265150] synonym: "pulmonary valve atresia with intact ventricular septum" EXACT [NCIT:C99032] xref: GARD:0004600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q22.6 {source="MONDO:subClassOf", source="ORDO:1208/ntbt", source="Orphanet:1208"} +xref: ICD10CM:Q22.6 {source="MONDO:subClassOf", source="Orphanet:1208", source="Orphanet:1208/ntbt"} xref: MESH:C562832 {source="MONDO:equivalentTo"} xref: NCIT:C99032 {source="MONDO:equivalentTo"} -xref: OMIM:265150 {source="MONDO:equivalentTo", source="Orphanet:1208", source="ORDO:1208/e"} +xref: OMIM:265150 {source="Orphanet:1208/e", source="MONDO:equivalentTo", source="Orphanet:1208"} xref: Orphanet:1208 {source="OMIM:265150", source="MONDO:equivalentTo"} xref: SCTID:253590009 {source="MONDO:equivalentTo"} -xref: UMLS:C0344975 {source="OMIM:265150", source="NCIT:C99032", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1208", source="ORDO:1208/e"} +xref: UMLS:C0344975 {source="Orphanet:1208/e", source="OMIM:265150", source="NCIT:C99032", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1208"} is_a: MONDO:0003847 ! Mendelian disease is_a: MONDO:0020287 {source="Orphanet:1208"} ! pulmonary artery or pulmonary branch anomaly is_a: MONDO:0020291 {source="Orphanet:1208"} ! hypoplastic right heart syndrome @@ -190465,14 +190430,14 @@ synonym: "lymphangiomatosis, pulmonary" RELATED [OMIM:265300] synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300] synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414] xref: GARD:0009900 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q33.8 {source="ORDO:2414/attributed", source="ORDO:2414/ntbt", source="Orphanet:2414"} -xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="ORDO:2414/e"} +xref: ICD10CM:Q33.8 {source="Orphanet:2414", source="Orphanet:2414/attributed", source="Orphanet:2414/ntbt"} +xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"} xref: NCIT:C99034 {source="MONDO:equivalentTo"} -xref: OMIM:265300 {source="MONDO:equivalentTo", source="Orphanet:2414", source="ORDO:2414/e"} +xref: OMIM:265300 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"} xref: Orphanet:2414 {source="MONDO:equivalentTo", source="OMIM:265300"} xref: SCTID:45142002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265800 {source="Orphanet:2414", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2414/e"} -xref: UMLS:C1849554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99034", source="Orphanet:2414", source="ORDO:2414/e", source="OMIM:265300"} +xref: UMLS:C0265800 {source="Orphanet:2414", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2414/e"} +xref: UMLS:C1849554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C99034", source="Orphanet:2414", source="OMIM:265300", source="Orphanet:2414/e"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2414", source="Orphanet:2414/inferred"} ! respiratory system disorder is_a: MONDO:0006840 {source="MESH:C537727", source="NCIT:C99034"} ! lymphangiectasis is_a: MONDO:0015221 {source="Orphanet:2414"} ! non-syndromic respiratory or mediastinal malformation @@ -190517,7 +190482,7 @@ xref: MESH:C536590 {source="MONDO:equivalentTo"} xref: MESH:D010547 {source="DOID:13042", source="EFO:1001103", source="MONDO:equivalentTo"} xref: NCIT:C85006 {source="MONDO:relatedTo", source="DOID:13042", source="EFO:1001103"} xref: NCIT:C98809 {source="MONDO:equivalentTo"} -xref: OMIM:265380 {source="ORDO:210122/e", source="Orphanet:210122", source="DOID:13042", source="MONDO:equivalentTo", source="GARD:0008644"} +xref: OMIM:265380 {source="Orphanet:210122", source="DOID:13042", source="MONDO:equivalentTo", source="Orphanet:210122/e", source="GARD:0008644"} xref: Orphanet:210122 {source="OMIM:265380", source="MONDO:equivalentTo", source="GARD:0008644"} xref: SCTID:204507004 {source="DOID:13042"} xref: SCTID:206597007 {source="DOID:13042"} @@ -190541,7 +190506,7 @@ xref: OMIM:265400 {source="MONDO:equivalentTo"} xref: Orphanet:422 {source="MONDO:subClassOf", source="OMIM:265400"} xref: UMLS:C1849552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265400"} is_a: MONDO:0001999 {source="MONDO:Redundant", source="OMIM:265400", source="indirect"} ! primary pulmonary hypertension -is_a: MONDO:0008347 {source="ORDO:422/btnt"} ! idiopathic and/or familial pulmonary arterial hypertension +is_a: MONDO:0008347 {source="Orphanet:422/btnt"} ! idiopathic and/or familial pulmonary arterial hypertension property_value: confidence "0.2864705882352938" xsd:double [Term] @@ -190552,9 +190517,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2257"} synonym: "lung agenesis" RELATED [OMIM:265430] synonym: "primary pulmonary hypoplasia" RELATED [Orphanet:2257] synonym: "pulmonary hypoplasia, primary" RELATED [OMIM:265430] -xref: ICD10CM:Q33.6 {source="Orphanet:2257", source="ORDO:2257/attributed", source="ORDO:2257/ntbt"} +xref: ICD10CM:Q33.6 {source="Orphanet:2257/attributed", source="Orphanet:2257/ntbt", source="Orphanet:2257"} xref: ICD9:748.5 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:265430 {source="ORDO:2257/e", source="Orphanet:2257", source="MONDO:equivalentTo"} +xref: OMIM:265430 {source="Orphanet:2257", source="MONDO:equivalentTo", source="Orphanet:2257/e"} xref: Orphanet:2257 {source="MONDO:equivalentTo", source="OMIM:265430"} xref: SCTID:277656005 {source="MONDO:equivalentTo"} xref: UMLS:C0456891 {source="NCBI:mim2gene_medline", source="OMIM:265430", source="MONDO:notFoundInDiseaseSubset"} @@ -190579,14 +190544,14 @@ synonym: "PVOD" EXACT ABBREVIATION [OMIM:265450] xref: DOID:5453 {source="MONDO:equivalentTo"} xref: GARD:0010153 {source="MONDO:equivalentTo"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10037458 {source="ORDO:31837/e", source="Orphanet:31837"} -xref: MESH:D011668 {source="DOID:5453", source="MONDO:equivalentTo", source="ORDO:31837/e", source="Orphanet:31837"} +xref: MedDRA:10037458 {source="Orphanet:31837/e", source="Orphanet:31837"} +xref: MESH:D011668 {source="DOID:5453", source="Orphanet:31837/e", source="MONDO:equivalentTo", source="Orphanet:31837"} xref: NCIT:C85039 {source="DOID:5453", source="MONDO:equivalentTo"} -xref: OMIM:265450 {source="MONDO:subClassOf", source="DOID:5453", source="ORDO:31837/e", source="Orphanet:31837"} +xref: OMIM:265450 {source="MONDO:subClassOf", source="DOID:5453", source="Orphanet:31837/e", source="Orphanet:31837"} xref: OMIMPS:265450 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:31837 {source="OMIM:265450", source="MONDO:equivalentTo"} xref: SCTID:89420002 {source="DOID:5453", source="MONDO:equivalentTo"} -xref: UMLS:C0034091 {source="DOID:5453", source="OMIM:265450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:31837/e", source="Orphanet:31837"} +xref: UMLS:C0034091 {source="DOID:5453", source="Orphanet:31837/e", source="OMIM:265450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:31837"} is_a: MONDO:0018554 {source="Orphanet:31837"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis relationship: has_modifier MONDO:0021152 {source="OMIMPS:265450"} ! inherited property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease xsd:anyURI {source="GARD:0010153"} @@ -190604,7 +190569,7 @@ xref: OMIM:265500 {source="MONDO:equivalentTo"} xref: Orphanet:3189 {source="MONDO:subClassOf", source="OMIM:265500"} xref: UMLS:C1956257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265500"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0017865 {source="ORDO:3189/btnt"} ! congenital pulmonary valve stenosis +is_a: MONDO:0017865 {source="Orphanet:3189/btnt"} ! congenital pulmonary valve stenosis property_value: confidence "31.33333333333327" xsd:double property_value: IAO:0000589 "pulmonic stenosis (disease)" xsd:string @@ -190630,13 +190595,13 @@ synonym: "pycnodysostosis" EXACT [OMIM:265800] synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763] xref: DOID:0080038 {source="MONDO:equivalentTo"} xref: GARD:0004611 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:763", source="ORDO:763/attributed", source="ORDO:763/ntbt"} -xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="ORDO:763/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:763", source="Orphanet:763/attributed", source="Orphanet:763/ntbt"} +xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"} xref: NCIT:C131187 {source="MONDO:equivalentTo"} -xref: OMIM:265800 {source="Orphanet:763", source="MONDO:equivalentTo", source="ORDO:763/e"} +xref: OMIM:265800 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"} xref: Orphanet:763 {source="MONDO:equivalentTo", source="OMIM:265800"} xref: SCTID:89647000 {source="MONDO:equivalentTo"} -xref: UMLS:C0238402 {source="Orphanet:763", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131187", source="ORDO:763/e", source="OMIM:265800"} +xref: UMLS:C0238402 {source="Orphanet:763", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:763/e", source="NCIT:C131187", source="OMIM:265800"} is_a: MONDO:0002561 {source="MESH:D058631", source="Orphanet:763"} ! lysosomal storage disease is_a: MONDO:0005516 {source="DOID:0080038", source="MESH:D058631"} ! osteochondrodysplasia is_a: MONDO:0017198 {source="Orphanet:763", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteopetrosis @@ -190665,12 +190630,12 @@ synonym: "association of skeletal defects resembling achondrogenesis with genera synonym: "camera syndrome" EXACT [Orphanet:3003] synonym: "pyknoachondrogenesis" EXACT [OMIM:265880] xref: GARD:0004610 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:3003", source="ORDO:3003/attributed", source="ORDO:3003/ntbt"} -xref: MESH:C536251 {source="ORDO:3003/e", source="Orphanet:3003", source="MONDO:equivalentTo"} -xref: OMIM:265880 {source="ORDO:3003/e", source="Orphanet:3003", source="MONDO:equivalentTo"} +xref: ICD10CM:Q78.8 {source="Orphanet:3003/attributed", source="Orphanet:3003/ntbt", source="Orphanet:3003"} +xref: MESH:C536251 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} +xref: OMIM:265880 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} xref: Orphanet:3003 {source="MONDO:equivalentTo", source="OMIM:265880"} xref: SCTID:719258003 {source="MONDO:equivalentTo"} -xref: UMLS:C1849523 {source="ORDO:3003/e", source="Orphanet:3003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265880"} +xref: UMLS:C1849523 {source="Orphanet:3003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:265880", source="Orphanet:3003/e"} is_a: MONDO:0019718 {source="Orphanet:3003"} ! lethal chondrodysplasia property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis xsd:anyURI {source="GARD:0004610"} @@ -190692,11 +190657,11 @@ synonym: "Pyle's syndrome" EXACT [Wikipedia:Metaphyseal_dysplasia] synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] xref: DOID:0080019 {source="MONDO:equivalentTo"} xref: GARD:0004612 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.5 {source="Orphanet:3005", source="ORDO:3005/ntbt", source="ORDO:3005/inclusion"} +xref: ICD10CM:Q78.5 {source="Orphanet:3005/inclusion", source="Orphanet:3005/ntbt", source="Orphanet:3005"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536252 {source="ORDO:3005/e", source="Orphanet:3005", source="MONDO:equivalentTo"} +xref: MESH:C536252 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} xref: OMIM:215050 {source="MONDO:superClassOf", source="DOID:0080019"} -xref: OMIM:265900 {source="ORDO:3005/e", source="Orphanet:3005", source="MONDO:equivalentTo"} +xref: OMIM:265900 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} xref: Orphanet:3005 {source="MONDO:equivalentTo", source="OMIM:265900"} xref: SCTID:27837003 {source="MONDO:equivalentTo"} xref: UMLS:C0265294 {source="NCBI:mim2gene_medline", source="Orphanet:3005", source="MONDO:notFoundInDiseaseSubset", source="OMIM:265900"} @@ -190734,14 +190699,14 @@ synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100] synonym: "pyridoxine-dependent epilepsy" EXACT CLINGEN_PREFERRED [OMIM:266100] synonym: "vitamin B6-dependent seizures" EXACT [Orphanet:3006] xref: GARD:0009298 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.8 {source="ORDO:3006/specific", source="Orphanet:3006", source="ORDO:3006/e"} -xref: MESH:C536254 {source="Orphanet:3006", source="ORDO:3006/e", source="MONDO:equivalentTo"} -xref: OMIM:266100 {source="Orphanet:3006", source="ORDO:3006/e", source="MONDO:superClassOf"} +xref: ICD10CM:G40.8 {source="Orphanet:3006", source="Orphanet:3006/e", source="Orphanet:3006/specific"} +xref: MESH:C536254 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"} +xref: OMIM:266100 {source="Orphanet:3006", source="MONDO:superClassOf", source="Orphanet:3006/e"} xref: OMIM:617290 {source="Orphanet:3006", source="MONDO:superClassOf"} xref: Orphanet:3006 {source="MONDO:equivalentTo", source="OMIM:266100"} xref: SCTID:734434007 {source="MONDO:equivalentTo"} -xref: UMLS:C1291560 {source="MONDO:relatedTo", source="Orphanet:3006", source="ORDO:3006/e"} -xref: UMLS:C1849508 {source="Orphanet:3006", source="NCBI:mim2gene_medline", source="ORDO:3006/e", source="MONDO:equivalentTo", source="OMIM:266100"} +xref: UMLS:C1291560 {source="MONDO:relatedTo", source="Orphanet:3006", source="Orphanet:3006/e"} +xref: UMLS:C1849508 {source="Orphanet:3006", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:266100", source="Orphanet:3006/e"} xref: UMLS:CN203406 {source="MONDO:equivalentTo"} is_a: MONDO:0019058 {source="Orphanet:3006"} ! neurometabolic disease is_a: MONDO:0019237 {source="Orphanet:3006"} ! inborn disorder of pyridoxine metabolism @@ -190763,9 +190728,9 @@ synonym: "UMPH1 deficiency" EXACT [Orphanet:35120] synonym: "Umph1 deficiency" RELATED [OMIM:266120] synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120] -xref: ICD10CM:D55.3 {source="ORDO:35120/attributed", source="ORDO:35120/ntbt", source="Orphanet:35120"} +xref: ICD10CM:D55.3 {source="Orphanet:35120", source="Orphanet:35120/attributed", source="Orphanet:35120/ntbt"} xref: MESH:C564859 {source="MONDO:equivalentTo"} -xref: OMIM:266120 {source="MONDO:equivalentTo", source="ORDO:35120/e", source="Orphanet:35120"} +xref: OMIM:266120 {source="MONDO:equivalentTo", source="Orphanet:35120", source="Orphanet:35120/e"} xref: Orphanet:35120 {source="OMIM:266120", source="MONDO:equivalentTo"} xref: UMLS:C1849507 {source="NCBI:mim2gene_medline", source="OMIM:266120", source="MONDO:equivalentTo", source="Orphanet:35120"} is_a: MONDO:0003664 {source="Orphanet:35120"} ! hemolytic anemia @@ -190782,9 +190747,9 @@ synonym: "5-oxoprolinuria" RELATED [OMIM:266130] synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical, OMIM:266130] synonym: "GSSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266130] synonym: "pyroglutamic aciduria" RELATED [OMIM:266130] -xref: ICD10CM:D55.1 {source="ORDO:289846/attributed", source="ORDO:289846/ntbt", source="Orphanet:289846"} +xref: ICD10CM:D55.1 {source="Orphanet:289846", source="Orphanet:289846/attributed", source="Orphanet:289846/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="ORDO:289846/e"} +xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="Orphanet:289846/e"} xref: Orphanet:289846 {source="OMIM:266130", source="MONDO:equivalentTo"} xref: Orphanet:32 {source="MONDO:subClassOf", source="OMIM:266130"} xref: SCTID:39112005 {source="MONDO:equivalentTo"} @@ -190834,15 +190799,15 @@ synonym: "pyruvate carboxylase deficiency disease" EXACT CLINGEN_PREFERRED [] xref: DOID:3651 {source="EFO:1001142", source="MONDO:equivalentTo"} xref: EFO:1001142 {source="MONDO:equivalentTo"} xref: GARD:0007512 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.4 {source="DOID:3651", source="ORDO:3008/ntbt", source="Orphanet:3008", source="ORDO:3008/inclusion"} +xref: ICD10CM:E74.4 {source="DOID:3651", source="Orphanet:3008/inclusion", source="Orphanet:3008", source="Orphanet:3008/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D015324 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="Orphanet:3008", source="ORDO:3008/e"} +xref: MESH:D015324 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"} xref: NCIT:C85040 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo"} -xref: OMIM:266150 {source="DOID:3651", source="MONDO:equivalentTo", source="Orphanet:3008", source="ORDO:3008/e"} +xref: OMIM:266150 {source="DOID:3651", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"} xref: Orphanet:3008 {source="OMIM:266150", source="MONDO:equivalentTo"} xref: SCTID:124716008 {source="DOID:3651"} xref: SCTID:87694001 {source="DOID:3651", source="MONDO:equivalentTo"} -xref: UMLS:C0034341 {source="OMIM:266150", source="DOID:3651", source="NCIT:C85040", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3008", source="ORDO:3008/e"} +xref: UMLS:C0034341 {source="OMIM:266150", source="DOID:3651", source="NCIT:C85040", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"} xref: UMLS:C2931141 {source="OMIM:266150", source="MONDO:equivalentTo", source="Orphanet:3008"} xref: UMLS:CN203409 {source="MONDO:equivalentTo"} is_a: MONDO:0019225 {source="Orphanet:3008"} ! gluconeogenesis disorder @@ -190864,10 +190829,10 @@ synonym: "pyruvate kinase deficiency of erythrocytes" EXACT [Orphanet:766] synonym: "pyruvate kinase deficiency of red cells" EXACT [OMIM:266200] xref: DOID:0111077 {source="MONDO:equivalentTo"} xref: GARD:0007514 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D55.2 {source="Orphanet:766", source="ORDO:766/inclusion", source="ORDO:766/ntbt"} +xref: ICD10CM:D55.2 {source="Orphanet:766/inclusion", source="Orphanet:766", source="Orphanet:766/ntbt"} xref: MESH:C564858 {source="MONDO:equivalentTo"} xref: NCIT:C99037 {source="MONDO:equivalentTo"} -xref: OMIM:266200 {source="ORDO:766/e", source="Orphanet:766", source="MONDO:equivalentTo", source="DOID:0111077"} +xref: OMIM:266200 {source="Orphanet:766", source="MONDO:equivalentTo", source="Orphanet:766/e", source="DOID:0111077"} xref: Orphanet:766 {source="MONDO:equivalentTo", source="OMIM:266200", source="DOID:0111077"} xref: SCTID:124331002 {source="MONDO:equivalentTo"} xref: UMLS:C0340968 {source="Orphanet:766", source="MONDO:equivalentTo", source="OMIM:266200"} @@ -190903,10 +190868,10 @@ synonym: "radioulnar synostosis, unilateral, with developmental retardation and synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED [GARD:0001810] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" RELATED DEPRECATED [GARD:0001810] xref: GARD:0001810 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3270/attributed", source="ORDO:3270/ntbt", source="Orphanet:3270"} +xref: ICD10CM:Q87.8 {source="Orphanet:3270/attributed", source="Orphanet:3270/ntbt", source="Orphanet:3270"} xref: MESH:C538217 {source="MONDO:equivalentTo"} xref: MESH:C564856 {source="MONDO:equivalentTo"} -xref: OMIM:266255 {source="GARD:0001810", source="MONDO:equivalentTo", source="ORDO:3270/e", source="Orphanet:3270"} +xref: OMIM:266255 {source="Orphanet:3270/e", source="GARD:0001810", source="MONDO:equivalentTo", source="Orphanet:3270"} xref: Orphanet:3270 {source="MONDO:equivalentTo", source="OMIM:266255"} xref: SCTID:721883006 {source="MONDO:equivalentTo"} xref: UMLS:C1849470 {source="NCBI:mim2gene_medline", source="OMIM:266255", source="MONDO:notFoundInDiseaseSubset"} @@ -190949,10 +190914,10 @@ synonym: "SLC35C1-CDG (CDG-IIc)" RELATED [GARD:0004634] xref: DOID:0070255 {source="MONDO:equivalentTo"} xref: GARD:0004634 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:4634 {source="DOID:0070255"} -xref: ICD10CM:D84.8 {source="Orphanet:99843", source="ORDO:99843/attributed", source="ORDO:99843/ntbt"} +xref: ICD10CM:D84.8 {source="Orphanet:99843", source="Orphanet:99843/attributed", source="Orphanet:99843/ntbt"} xref: MESH:C535755 {source="MONDO:equivalentTo"} xref: NCIT:C4690 {source="MONDO:equivalentTo"} -xref: OMIM:266265 {source="ORDO:99843/e", source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo"} +xref: OMIM:266265 {source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo", source="Orphanet:99843/e"} xref: Orphanet:2968 {source="MONDO:subClassOf", source="OMIM:266265"} xref: Orphanet:99843 {source="DOID:0070255", source="MONDO:equivalentTo", source="OMIM:266265"} xref: SCTID:234583001 {source="MONDO:equivalentTo"} @@ -190978,11 +190943,11 @@ synonym: "cherubism-gingival fibromatosis-intellectual disability syndrome" EXAC synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523] synonym: "Ramon syndrome" EXACT [OMIM:266270] xref: GARD:0007523 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3019/attributed", source="ORDO:3019/ntbt", source="Orphanet:3019"} -xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="ORDO:3019/e"} -xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="ORDO:3019/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3019", source="Orphanet:3019/attributed", source="Orphanet:3019/ntbt"} +xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} +xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} xref: Orphanet:3019 {source="OMIM:266270", source="MONDO:equivalentTo"} -xref: UMLS:C0796133 {source="OMIM:266270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3019", source="ORDO:3019/e"} +xref: UMLS:C0796133 {source="OMIM:266270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} is_a: MONDO:0002081 {source="GARD:0007523"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="OMIM:266270"} ! Mendelian disease relationship: excluded_subClassOf MONDO:0015336 {source="Orphanet:3019"} ! obsolete malformation syndrome with odontal and/or periodontal component @@ -191002,13 +190967,13 @@ synonym: "radial and patellar hypoplasia" RELATED [GARD:0004637] synonym: "rapadilino syndrome" EXACT [OMIM:266280] xref: DOID:0050774 {source="MONDO:equivalentTo"} xref: GARD:0004637 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:3021/attributed", source="ORDO:3021/ntbt", source="Orphanet:3021"} +xref: ICD10CM:Q87.1 {source="Orphanet:3021/attributed", source="Orphanet:3021/ntbt", source="Orphanet:3021"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535288 {source="MONDO:equivalentTo", source="ORDO:3021/e", source="Orphanet:3021"} -xref: OMIM:266280 {source="DOID:0050774", source="MONDO:equivalentTo", source="ORDO:3021/e", source="Orphanet:3021"} +xref: MESH:C535288 {source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} +xref: OMIM:266280 {source="DOID:0050774", source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} xref: Orphanet:3021 {source="MONDO:equivalentTo", source="OMIM:266280"} xref: SCTID:702413000 {source="MONDO:equivalentTo"} -xref: UMLS:C1849453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3021/e", source="OMIM:266280", source="Orphanet:3021"} +xref: UMLS:C1849453 {source="NCBI:mim2gene_medline", source="Orphanet:3021/e", source="MONDO:equivalentTo", source="OMIM:266280", source="Orphanet:3021"} is_a: MONDO:0006025 {source="DOID:0050774", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:3021", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:3021"} ! orofacial clefting syndrome @@ -191077,19 +191042,19 @@ synonym: "Refsum's disease" EXACT [DOID:10582, ICD9CM:356.3, MESH:D012035, NCIT: xref: DOID:10582 {source="MONDO:equivalentTo"} xref: GARD:0004371 {source="MONDO:relatedTo"} xref: GARD:0005691 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582"} -xref: ICD10CM:G60.1 {source="MONDO:equivalentTo", source="ORDO:773/specific", source="DOID:10582", source="ORDO:773/e", source="Orphanet:773"} +xref: ICD10CM:G60.1 {source="Orphanet:773/specific", source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9CM:356.3 {source="MONDO:equivalentTo", source="i2s", source="DOID:10582"} -xref: MedDRA:10038275 {source="MONDO:equivalentTo", source="NCIT:C85043", source="ORDO:773/e", source="Orphanet:773"} +xref: MedDRA:10038275 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="NCIT:C85043", source="Orphanet:773"} xref: MESH:C535517 {source="MONDO:relatedTo"} -xref: MESH:D012035 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582", source="ORDO:773/e", source="Orphanet:773"} +xref: MESH:D012035 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582", source="Orphanet:773"} xref: NCIT:C85043 {source="MONDO:subClassOf", source="DOID:10582"} -xref: OMIM:266500 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582", source="ORDO:773/e", source="Orphanet:773"} +xref: OMIM:266500 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582", source="Orphanet:773"} xref: OMIM:266510 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:10582"} xref: OMIM:600964 {source="MONDO:equivalentObsolete", source="GARD:0004371"} xref: Orphanet:773 {source="MONDO:equivalentTo", source="OMIM:266500"} xref: SCTID:25362006 {source="MONDO:equivalentTo", source="DOID:10582"} -xref: UMLS:C0034960 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:10582", source="OMIM:266500", source="ORDO:773/e", source="Orphanet:773"} +xref: UMLS:C0034960 {source="Orphanet:773/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:10582", source="OMIM:266500", source="Orphanet:773"} xref: UMLS:C1833022 {source="MONDO:relatedTo", source="GARD:0004371"} xref: UMLS:C2749345 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:266500"} is_a: MONDO:0019058 {source="Orphanet:773"} ! neurometabolic disease @@ -191218,9 +191183,9 @@ synonym: "renal dysplasia-mesomelia-radiohumeral fusion syndrome" EXACT [Orphane synonym: "RL syndrome" RELATED [OMIM:266910] synonym: "Ulbright Hodes syndrome" RELATED [GARD:0005394] xref: GARD:0005394 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3404/attributed", source="ORDO:3404/ntbt", source="Orphanet:3404"} +xref: ICD10CM:Q87.8 {source="Orphanet:3404", source="Orphanet:3404/attributed", source="Orphanet:3404/ntbt"} xref: MESH:C537754 {source="MONDO:equivalentTo"} -xref: OMIM:266910 {source="MONDO:equivalentTo", source="Orphanet:3404", source="ORDO:3404/e"} +xref: OMIM:266910 {source="MONDO:equivalentTo", source="Orphanet:3404", source="Orphanet:3404/e"} xref: Orphanet:3404 {source="MONDO:equivalentTo", source="OMIM:266910"} xref: SCTID:719840003 {source="MONDO:equivalentTo"} xref: UMLS:C1849438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3404", source="OMIM:266910"} @@ -191246,14 +191211,14 @@ synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT CLIN synonym: "SRTD9" EXACT ABBREVIATION [DOID:0110097, MONDO:Lexical, OMIM:266920] xref: DOID:0110097 {source="MONDO:equivalentTo"} xref: GARD:0008600 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.5 {source="Orphanet:140969", source="DOID:0110097", source="ORDO:140969/attributed", source="ORDO:140969/ntbt"} +xref: ICD10CM:Q87.5 {source="Orphanet:140969", source="Orphanet:140969/attributed", source="Orphanet:140969/ntbt", source="DOID:0110097"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535463 {source="Orphanet:140969", source="ORDO:140969/e"} -xref: OMIM:266920 {source="Orphanet:140969", source="MONDO:equivalentTo", source="DOID:0110097", source="ORDO:140969/btnt"} -xref: OMIM:615630 {source="MONDO:subClassOf", source="Orphanet:140969", source="ORDO:140969/ntbt"} +xref: MESH:C535463 {source="Orphanet:140969", source="Orphanet:140969/e"} +xref: OMIM:266920 {source="Orphanet:140969", source="Orphanet:140969/btnt", source="MONDO:equivalentTo", source="DOID:0110097"} +xref: OMIM:615630 {source="MONDO:subClassOf", source="Orphanet:140969", source="Orphanet:140969/ntbt"} xref: Orphanet:140969 {source="MONDO:equivalentTo", source="OMIM:266920"} xref: SCTID:254092004 {source="MONDO:equivalentTo"} -xref: UMLS:C1849437 {source="Orphanet:140969", source="ORDO:140969/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:266920"} +xref: UMLS:C1849437 {source="Orphanet:140969", source="NCBI:mim2gene_medline", source="Orphanet:140969/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:266920"} is_a: MONDO:0018770 {source="DOID:0110097", source="MONDO:Redundant", source="OMIM:266920", source="indirect"} ! Jeune syndrome is_a: MONDO:0019695 {source="Orphanet:140969"} ! acromelic dysplasia is_a: MONDO:0019741 {source="Orphanet:140969"} ! familial cystic renal disease @@ -191278,10 +191243,10 @@ synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000] xref: DOID:0060476 {source="MONDO:equivalentTo"} xref: GARD:0003936 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="DOID:0060476", source="Orphanet:2849", source="ORDO:2849/attributed", source="ORDO:2849/ntbt"} +xref: ICD10CM:Q87.3 {source="DOID:0060476", source="Orphanet:2849/attributed", source="Orphanet:2849/ntbt", source="Orphanet:2849"} xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo"} xref: NCIT:C103144 {source="MONDO:equivalentTo"} -xref: OMIM:267000 {source="DOID:0060476", source="MONDO:equivalentTo", source="Orphanet:2849", source="ORDO:2849/e"} +xref: OMIM:267000 {source="Orphanet:2849/e", source="DOID:0060476", source="MONDO:equivalentTo", source="Orphanet:2849"} xref: Orphanet:2849 {source="DOID:0060476", source="OMIM:267000", source="MONDO:equivalentTo"} xref: SCTID:722231005 {source="MONDO:equivalentTo"} xref: UMLS:C0796113 {source="NCIT:C103144", source="NCBI:mim2gene_medline", source="OMIM:267000", source="MONDO:equivalentTo", source="Orphanet:2849"} @@ -191310,12 +191275,12 @@ synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [OM synonym: "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome" EXACT [GARD:0004665, Orphanet:3032] xref: DOID:0070121 {source="MONDO:equivalentTo"} xref: GARD:0004665 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q61.9 {source="ORDO:3032/attributed", source="ORDO:3032/ntbt", source="Orphanet:3032"} +xref: ICD10CM:Q61.9 {source="Orphanet:3032/attributed", source="Orphanet:3032/ntbt", source="Orphanet:3032"} xref: MESH:C537756 {source="MONDO:equivalentTo"} -xref: OMIM:267010 {source="DOID:0070121", source="GARD:0004665", source="MONDO:equivalentTo", source="ORDO:3032/e", source="Orphanet:3032"} +xref: OMIM:267010 {source="DOID:0070121", source="GARD:0004665", source="Orphanet:3032/e", source="MONDO:equivalentTo", source="Orphanet:3032"} xref: Orphanet:3032 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="MONDO:equivalentTo"} xref: PMID:18371931 {source="DOID:0070121"} -xref: UMLS:C2673885 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3032/e", source="Orphanet:3032"} +xref: UMLS:C2673885 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="NCBI:mim2gene_medline", source="Orphanet:3032/e", source="MONDO:equivalentTo", source="Orphanet:3032"} is_a: MONDO:0018921 {source="DC-OMIM:267010", source="DOID:0070121", source="OMIM:267010"} ! Meckel syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7907 {source="mim2gene_medgen"} ! NPHP3 @@ -191338,7 +191303,7 @@ xref: OMIM:267200 {source="MONDO:equivalentTo"} xref: Orphanet:2785 {source="MONDO:subClassOf", source="OMIM:267200"} xref: UMLS:C1849435 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:267200"} is_a: MONDO:0001909 {source="DC-OMIM:267200", source="MESH:C537759"} ! renal tubular acidosis -relationship: excluded_subClassOf MONDO:0009818 {source="ORDO:2785/btnt"} ! autosomal recessive osteopetrosis 3 +relationship: excluded_subClassOf MONDO:0009818 {source="Orphanet:2785/btnt"} ! autosomal recessive osteopetrosis 3 property_value: confidence "0.3786246893123453" xsd:double [Term] @@ -191371,7 +191336,7 @@ xref: SCTID:722468005 {source="MONDO:equivalentTo", source="MONDO:preferredExter xref: UMLS:C0403554 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267300"} xref: UMLS:C4302514 {source="MONDO:equivalentTo"} is_a: MONDO:0015827 {source="indirect", source="linkedlifedata"} ! distal renal tubular acidosis -is_a: MONDO:0018440 {source="ORDO:402041/btnt"} ! autosomal recessive distal renal tubular acidosis +is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/853 {source="mim2gene_medgen"} ! ATP6V1B1 relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -191385,9 +191350,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1092"} synonym: "renal genital middle ear anomalies" RELATED [GARD:0004664] synonym: "renal, genital, and middle EAR anomalies" RELATED [OMIM:267400] xref: GARD:0004664 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1092/attributed", source="ORDO:1092/ntbt", source="Orphanet:1092"} +xref: ICD10CM:Q87.8 {source="Orphanet:1092/attributed", source="Orphanet:1092/ntbt", source="Orphanet:1092"} xref: MESH:C564849 {source="MONDO:equivalentTo"} -xref: OMIM:267400 {source="MONDO:equivalentTo", source="ORDO:1092/e", source="Orphanet:1092"} +xref: OMIM:267400 {source="Orphanet:1092/e", source="MONDO:equivalentTo", source="Orphanet:1092"} xref: Orphanet:1092 {source="MONDO:equivalentTo", source="OMIM:267400"} xref: UMLS:C1849432 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267400", source="Orphanet:1092"} is_a: MONDO:0015161 {source="Orphanet:1092"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -191406,8 +191371,8 @@ synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical, OMIM:267430] synonym: "renal tubular dysgenesis of genetic origin" EXACT CLINGEN_PREFERRED [] synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OMIM:267430] synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267430] -xref: ICD10CM:Q63.8 {source="Orphanet:97369", source="ORDO:97369/attributed", source="ORDO:97369/ntbt"} -xref: OMIM:267430 {source="ORDO:97369/e", source="Orphanet:97369", source="MONDO:equivalentTo"} +xref: ICD10CM:Q63.8 {source="Orphanet:97369/attributed", source="Orphanet:97369/ntbt", source="Orphanet:97369"} +xref: OMIM:267430 {source="Orphanet:97369", source="MONDO:equivalentTo", source="Orphanet:97369/e"} xref: Orphanet:3033 {source="MONDO:subClassOf", source="OMIM:267430"} xref: Orphanet:97369 {source="OMIM:267430", source="MONDO:equivalentTo"} xref: UMLS:C0266313 {source="OMIM:267430", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -191457,11 +191422,11 @@ synonym: "syndrome Of newborns (RDS), respiratory distress" EXACT [NCIT:C27560] xref: DOID:12716 {source="MONDO:equivalentTo", source="EFO:1000644"} xref: EFO:1000644 {source="MONDO:equivalentTo"} xref: GARD:0000112 {source="MONDO:equivalentTo"} -xref: ICD10CM:P22.0 {source="ORDO:70587/e", source="Orphanet:70587", source="DOID:12716"} +xref: ICD10CM:P22.0 {source="Orphanet:70587", source="DOID:12716", source="Orphanet:70587/e"} xref: ICD9:769 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D006819 {source="DOID:12716", source="EFO:1000644"} xref: NCIT:C27560 {source="MONDO:equivalentTo"} -xref: OMIM:267450 {source="ORDO:70587/e", source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716", source="EFO:1000644"} +xref: OMIM:267450 {source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716", source="EFO:1000644", source="Orphanet:70587/e"} xref: Orphanet:70587 {source="OMIM:267450", source="MONDO:equivalentTo"} xref: SCTID:206281003 {source="DOID:12716"} xref: SCTID:26168007 {source="DOID:12716"} @@ -191510,14 +191475,14 @@ synonym: "SCID with leukopenia" EXACT [Orphanet:33355] synonym: "severe combined immunodeficiency with leukopenia" EXACT [OMIM:267500, Orphanet:33355] xref: DOID:0060020 {source="MONDO:equivalentTo"} xref: GARD:0008625 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.0 {source="ORDO:33355/specific", source="ORDO:33355/e", source="Orphanet:33355"} -xref: MESH:C538361 {source="MONDO:equivalentTo", source="ORDO:33355/e", source="DOID:0060020", source="Orphanet:33355"} +xref: ICD10CM:D81.0 {source="Orphanet:33355/specific", source="Orphanet:33355/e", source="Orphanet:33355"} +xref: MESH:C538361 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"} xref: NCIT:C27070 {source="MONDO:equivalentTo", source="DOID:0060020"} -xref: OMIM:267500 {source="MONDO:equivalentTo", source="ORDO:33355/e", source="DOID:0060020", source="Orphanet:33355"} +xref: OMIM:267500 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"} xref: Orphanet:33355 {source="MONDO:equivalentTo", source="OMIM:267500"} xref: SCTID:111584000 {source="MONDO:equivalentTo", source="DOID:0060020"} -xref: UMLS:C0272167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267500", source="NCIT:C27070", source="ORDO:33355/e", source="DOID:0060020", source="Orphanet:33355"} -xref: UMLS:C1282908 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:33355/e", source="Orphanet:33355"} +xref: UMLS:C0272167 {source="Orphanet:33355/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267500", source="NCIT:C27070", source="DOID:0060020", source="Orphanet:33355"} +xref: UMLS:C1282908 {source="Orphanet:33355/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:33355"} is_a: MONDO:0015131 {source="DOID:0060020/inferred", source="MONDO:Redundant", source="NCIT:C27070", source="Orphanet:33355/inferred"} ! combined immunodeficiency is_a: MONDO:0015974 {source="DOID:0060020", source="MESH:C538361", source="MONDO:Redundant", source="Orphanet:33355/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency is_a: MONDO:0017855 {source="Orphanet:33355", source="PMID:31953710"} ! T-B- severe combined immunodeficiency @@ -191551,16 +191516,16 @@ synonym: "HPLH1" EXACT ABBREVIATION [DOID:0110921] synonym: "Hplh1" RELATED [OMIM:267700] synonym: "reticulosis, familial histiocytic" RELATED [OMIM:267700] xref: DOID:0110921 {source="MONDO:equivalentTo"} -xref: ICD10CM:D76.1 {source="ORDO:540/attributed", source="ORDO:540/ntbt", source="Orphanet:540"} -xref: MedDRA:10070904 {source="ORDO:540/e", source="Orphanet:540"} +xref: ICD10CM:D76.1 {source="Orphanet:540/attributed", source="Orphanet:540/ntbt", source="Orphanet:540"} +xref: MedDRA:10070904 {source="Orphanet:540/e", source="Orphanet:540"} xref: NCIT:C61276 {source="MONDO:equivalentTo"} -xref: OMIM:267700 {source="DOID:0110921", source="MONDO:equivalentTo", source="ORDO:540/e", source="Orphanet:540"} -xref: OMIM:603552 {source="ORDO:540/btnt", source="MONDO:superClassOf", source="Orphanet:540", source="MONDO:directSiblingOf"} -xref: OMIM:603553 {source="ORDO:540/btnt", source="MONDO:superClassOf", source="Orphanet:540", source="MONDO:directSiblingOf"} -xref: OMIM:608898 {source="ORDO:540/btnt", source="MONDO:superClassOf", source="Orphanet:540", source="MONDO:directSiblingOf"} -xref: OMIM:613101 {source="ORDO:540/btnt", source="MONDO:superClassOf", source="Orphanet:540", source="MONDO:directSiblingOf"} +xref: OMIM:267700 {source="DOID:0110921", source="Orphanet:540/e", source="MONDO:equivalentTo", source="Orphanet:540"} +xref: OMIM:603552 {source="MONDO:superClassOf", source="Orphanet:540/btnt", source="Orphanet:540", source="MONDO:directSiblingOf"} +xref: OMIM:603553 {source="MONDO:superClassOf", source="Orphanet:540/btnt", source="Orphanet:540", source="MONDO:directSiblingOf"} +xref: OMIM:608898 {source="MONDO:superClassOf", source="Orphanet:540/btnt", source="Orphanet:540", source="MONDO:directSiblingOf"} +xref: OMIM:613101 {source="MONDO:superClassOf", source="Orphanet:540/btnt", source="Orphanet:540", source="MONDO:directSiblingOf"} xref: Orphanet:540 {source="MONDO:subClassOf", source="OMIM:267700"} -xref: UMLS:C0272199 {source="MONDO:equivalentTo", source="OMIM:267700", source="ORDO:540/e", source="Orphanet:540", source="NCIT:C61276"} +xref: UMLS:C0272199 {source="Orphanet:540/e", source="MONDO:equivalentTo", source="OMIM:267700", source="Orphanet:540", source="NCIT:C61276"} xref: UMLS:CN034020 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN205265 {source="MONDO:equivalentTo"} is_a: MONDO:0015144 {source="Orphanet:540"} ! brain inflammatory disease @@ -191584,15 +191549,15 @@ synonym: "reticulum cell sarcoma" EXACT [OMIM:267730] synonym: "sarcoma of reticular cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"} xref: EFO:0005287 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.4 {source="ORDO:86900/ntbt", source="Orphanet:86900"} +xref: ICD10CM:C96.4 {source="Orphanet:86900", source="Orphanet:86900/ntbt"} xref: ICD9:200.0 {source="DOID:8538", source="EFO:0005287"} xref: ICD9:200.00 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:200.7 {source="DOID:8538"} -xref: MedDRA:10038804 {source="ORDO:86900/e", source="Orphanet:86900"} +xref: MedDRA:10038804 {source="Orphanet:86900", source="Orphanet:86900/e"} xref: MESH:D008228 {source="MONDO:relatedTo", source="DOID:8538"} -xref: MESH:D054739 {source="MONDO:relatedTo", source="ORDO:86900/e", source="Orphanet:86900"} +xref: MESH:D054739 {source="MONDO:relatedTo", source="Orphanet:86900", source="Orphanet:86900/e"} xref: NCIT:C27824 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"} -xref: OMIM:267730 {source="DOID:8538", source="ORDO:86900/e", source="MONDO:equivalentTo", source="Orphanet:86900"} +xref: OMIM:267730 {source="DOID:8538", source="MONDO:equivalentTo", source="Orphanet:86900", source="Orphanet:86900/e"} xref: Orphanet:86900 {source="MONDO:equivalentTo", source="OMIM:267730"} xref: SCTID:118604003 {source="DOID:8538"} xref: SCTID:154579006 {source="DOID:8538"} @@ -191604,8 +191569,8 @@ xref: SCTID:189986002 {source="DOID:8538"} xref: SCTID:190012002 {source="DOID:8538"} xref: SCTID:373168002 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"} xref: SCTID:40152000 {source="DOID:8538"} -xref: UMLS:C0024302 {source="DOID:8538", source="NCBI:mim2gene_medline", source="ORDO:86900/e", source="Orphanet:86900", source="MONDO:notFoundInDiseaseSubset", source="OMIM:267730", source="NCIT:C27824"} -xref: UMLS:C1260326 {source="ORDO:86900/e", source="Orphanet:86900", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0024302 {source="DOID:8538", source="NCBI:mim2gene_medline", source="Orphanet:86900", source="MONDO:notFoundInDiseaseSubset", source="OMIM:267730", source="NCIT:C27824", source="Orphanet:86900/e"} +xref: UMLS:C1260326 {source="Orphanet:86900", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86900/e"} is_a: MONDO:0000612 {source="DOID:8538"} ! lymphatic system cancer is_a: MONDO:0005089 {source="EFO:0005287"} ! sarcoma is_a: MONDO:0020082 {source="Orphanet:86900"} ! dendritic cell tumor @@ -191636,13 +191601,13 @@ synonym: "myopia retinal detachment encephalocele" RELATED [GARD:0000380] synonym: "retinal detachment and occipital encephalocele" RELATED [OMIM:267750] synonym: "retinal detachment-occipital encephalocele syndrome" EXACT [Orphanet:1571] xref: GARD:0000380 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q15.8 {source="Orphanet:1571", source="ORDO:1571/attributed", source="ORDO:1571/ntbt"} +xref: ICD10CM:Q15.8 {source="Orphanet:1571", source="Orphanet:1571/attributed", source="Orphanet:1571/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537209 {source="Orphanet:1571", source="MONDO:equivalentTo", source="ORDO:1571/e"} -xref: OMIM:267750 {source="Orphanet:1571", source="MONDO:equivalentTo", source="ORDO:1571/e"} +xref: MESH:C537209 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"} +xref: OMIM:267750 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"} xref: Orphanet:1571 {source="MONDO:equivalentTo", source="OMIM:267750"} xref: SCTID:703542000 {source="MONDO:equivalentTo"} -xref: UMLS:C1849409 {source="Orphanet:1571", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267750", source="ORDO:1571/e"} +xref: UMLS:C1849409 {source="Orphanet:1571", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:267750", source="Orphanet:1571/e"} is_a: MONDO:0020248 {source="Orphanet:1571", source="linkedlifedata"} ! vitreoretinal degeneration relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2195 {source="mim2gene_medgen"} ! COL18A1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -191659,9 +191624,9 @@ synonym: "Mackay-Shek-Carr syndrome" EXACT [Orphanet:1574] synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [OMIM:267760] synonym: "retinal degeneration, nanophthalmos, glaucoma" RELATED [GARD:0000395] xref: GARD:0000395 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="Orphanet:1574", source="ORDO:1574/attributed", source="ORDO:1574/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:H35.5 {source="Orphanet:1574", source="Orphanet:1574/attributed", source="Orphanet:1574/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C538364 {source="MONDO:equivalentTo"} -xref: OMIM:267760 {source="Orphanet:1574", source="ORDO:1574/e", source="MONDO:equivalentTo"} +xref: OMIM:267760 {source="Orphanet:1574", source="MONDO:equivalentTo", source="Orphanet:1574/e"} xref: Orphanet:1574 {source="OMIM:267760", source="MONDO:equivalentTo"} xref: SCTID:723503006 {source="MONDO:equivalentTo"} xref: UMLS:C1849408 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -191676,10 +191641,10 @@ name: reticular dystrophy of the retinal pigment epithelium def: "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." [Orphanet:99002] subset: ordo_disease {source="Orphanet:99002"} synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [OMIM:267800] -xref: ICD10CM:H35.5 {source="ORDO:99002/attributed", source="ORDO:99002/ntbt", source="MONDO:relatedTo", source="Orphanet:99002"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99002/attributed", source="Orphanet:99002/ntbt", source="Orphanet:99002"} xref: MESH:C564844 {source="MONDO:equivalentTo"} -xref: OMIM:179840 {source="ORDO:99002/btnt", source="MONDO:superClassOf", source="Orphanet:99002"} -xref: OMIM:267800 {source="MONDO:equivalentTo", source="ORDO:99002/e", source="Orphanet:99002"} +xref: OMIM:179840 {source="Orphanet:99002/btnt", source="MONDO:superClassOf", source="Orphanet:99002"} +xref: OMIM:267800 {source="Orphanet:99002/e", source="MONDO:equivalentTo", source="Orphanet:99002"} xref: OMIM:617175 {source="MONDO:superClassOf", source="Orphanet:99002"} xref: Orphanet:99002 {source="MONDO:equivalentTo", source="OMIM:267800"} xref: UMLS:C1849407 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:267800"} @@ -191730,9 +191695,9 @@ synonym: "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hy synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [Orphanet:3085] synonym: "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" EXACT [Orphanet:3085] xref: GARD:0004683 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3085/attributed", source="ORDO:3085/ntbt", source="Orphanet:3085"} +xref: ICD10CM:Q87.8 {source="Orphanet:3085/attributed", source="Orphanet:3085/ntbt", source="Orphanet:3085"} xref: MESH:C564841 {source="MONDO:equivalentTo"} -xref: OMIM:268020 {source="MONDO:equivalentTo", source="ORDO:3085/e", source="Orphanet:3085"} +xref: OMIM:268020 {source="Orphanet:3085/e", source="MONDO:equivalentTo", source="Orphanet:3085"} xref: Orphanet:3085 {source="OMIM:268020", source="MONDO:equivalentTo"} xref: UMLS:C1849401 {source="OMIM:268020", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3085"} is_a: MONDO:0019589 {source="Orphanet:3085"} ! syndromic genetic hearing loss @@ -191762,9 +191727,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3087"} synonym: "retinohepatoendocrinologic syndrome" EXACT [OMIM:268040] synonym: "rhe syndrome" RELATED [OMIM:268040] xref: GARD:0004685 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3087/attributed", source="ORDO:3087/ntbt", source="Orphanet:3087"} +xref: ICD10CM:Q87.8 {source="Orphanet:3087/attributed", source="Orphanet:3087/ntbt", source="Orphanet:3087"} xref: MESH:C564839 {source="MONDO:equivalentTo"} -xref: OMIM:268040 {source="MONDO:equivalentTo", source="ORDO:3087/e", source="Orphanet:3087"} +xref: OMIM:268040 {source="Orphanet:3087/e", source="MONDO:equivalentTo", source="Orphanet:3087"} xref: Orphanet:3087 {source="MONDO:equivalentObsolete", source="OMIM:268040"} xref: SCTID:724000006 {source="MONDO:equivalentTo"} xref: UMLS:C1849399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268040", source="Orphanet:3087"} @@ -191845,7 +191810,7 @@ xref: DOID:0070026 {source="MONDO:equivalentTo"} xref: GARD:0004695 {source="MONDO:equivalentTo"} xref: MESH:C538371 {source="MONDO:equivalentTo"} xref: NCIT:C152064 {source="MONDO:equivalentTo"} -xref: OMIM:268130 {source="MONDO:equivalentTo", source="DOID:0070026", source="Orphanet:3088", source="ORDO:3088/e"} +xref: OMIM:268130 {source="Orphanet:3088/e", source="MONDO:equivalentTo", source="DOID:0070026", source="Orphanet:3088"} xref: Orphanet:3088 {source="OMIM:268130", source="MONDO:equivalentTo"} xref: SCTID:723512008 {source="MONDO:equivalentTo"} xref: UMLS:C1327916 {source="OMIM:268130", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3088"} @@ -191872,7 +191837,7 @@ xref: OMIM:268200 {source="MONDO:equivalentTo"} xref: Orphanet:99845 {source="MONDO:subClassOf", source="OMIM:268200"} xref: UMLS:C1849386 {source="OMIM:268200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000866 {source="DC-OMIM:268200", source="MESH:C564832"} ! myoglobinuria -is_a: MONDO:0020504 {source="ORDO:99845/btnt"} ! genetic recurrent myoglobinuria +is_a: MONDO:0020504 {source="Orphanet:99845/btnt"} ! genetic recurrent myoglobinuria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13345 {source="mim2gene_medgen"} ! LPIN1 property_value: confidence "29.33333333333344" xsd:double @@ -191897,19 +191862,19 @@ xref: DOID:3246 {source="MONDO:equivalentTo", source="EFO:0000437"} xref: EFO:0000437 {source="MONDO:equivalentTo"} xref: GARD:0004702 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0006743 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="Orphanet:99757", source="ORDO:99757/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:99757/ntbt", source="Orphanet:99757"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8910/3 {source="NCIT:C8971"} -xref: MedDRA:10065868 {source="ORDO:99757/e", source="Orphanet:99757"} -xref: MESH:D018233 {source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="EFO:0000437"} +xref: MedDRA:10065868 {source="Orphanet:99757", source="Orphanet:99757/e"} +xref: MESH:D018233 {source="Orphanet:99757", source="DOID:3246", source="EFO:0000437", source="Orphanet:99757/e"} xref: NCIT:C8971 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} -xref: OMIM:268210 {source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} +xref: OMIM:268210 {source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437", source="Orphanet:99757/e"} xref: ONCOTREE:ERMS {source="MONDO:equivalentTo"} xref: Orphanet:780 {source="MONDO:subClassOf", source="OMIM:268210"} xref: Orphanet:99757 {source="DOID:3246", source="OMIM:268210", source="MONDO:equivalentTo"} xref: SCTID:14269005 {source="DOID:3246", source="EFO:0000437"} xref: SCTID:404051002 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} -xref: UMLS:C0206656 {source="NCIT:C8971", source="ORDO:99757/e", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo"} +xref: UMLS:C0206656 {source="NCIT:C8971", source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="Orphanet:99757/e"} xref: UMLS:C1849385 {source="NCBI:mim2gene_medline", source="OMIM:268210", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005212 {source="DC-OMIM:268210", source="DOID:3246", source="EFO:0000437", source="NCIT:C8971", source="ONCOTREE:ERMS", source="Orphanet:99757", source="linkedlifedata"} ! rhabdomyosarcoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10964 {source="mim2gene_medgen"} ! SLC22A18 @@ -191940,20 +191905,20 @@ xref: DOID:4051 {source="MONDO:equivalentTo", source="EFO:0000248"} xref: EFO:0000248 {source="MONDO:equivalentTo"} xref: GARD:0004701 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0006779 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="Orphanet:99756", source="ORDO:99756/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:99756/ntbt", source="Orphanet:99756"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8920/3 {source="NCIT:C3749"} -xref: MedDRA:10065867 {source="ORDO:99756/e", source="Orphanet:99756"} -xref: MESH:D018232 {source="ORDO:99756/e", source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} +xref: MedDRA:10065867 {source="Orphanet:99756", source="Orphanet:99756/e"} +xref: MESH:D018232 {source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="Orphanet:99756/e"} xref: NCIT:C3749 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} xref: NCIT:C7958 {source="DOID:4051"} -xref: OMIM:268220 {source="ORDO:99756/e", source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} +xref: OMIM:268220 {source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="Orphanet:99756/e"} xref: ONCOTREE:ARMS {source="MONDO:equivalentTo"} xref: Orphanet:780 {source="MONDO:subClassOf", source="OMIM:268220"} xref: Orphanet:99756 {source="OMIM:268220", source="MONDO:equivalentTo"} xref: SCTID:404053004 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"} xref: SCTID:63449009 {source="EFO:0000248", source="DOID:4051"} -xref: UMLS:C0206655 {source="NCIT:C3749", source="ORDO:99756/e", source="OMIM:268220", source="NCBI:mim2gene_medline", source="Orphanet:99756", source="MONDO:equivalentTo", source="DOID:4051"} +xref: UMLS:C0206655 {source="NCIT:C3749", source="OMIM:268220", source="NCBI:mim2gene_medline", source="Orphanet:99756", source="MONDO:equivalentTo", source="DOID:4051", source="Orphanet:99756/e"} xref: UMLS:C0279613 {source="MONDO:notFoundInDiseaseSubset", source="DOID:4051"} is_a: MONDO:0005212 {source="DC-OMIM:268220", source="DOID:4051", source="EFO:0000248", source="MESH:D018232", source="NCIT:C3749", source="ONCOTREE:ARMS", source="Orphanet:99756", source="linkedlifedata"} ! rhabdomyosarcoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -191970,7 +191935,7 @@ xref: Orphanet:3099 {source="OMIM:268240", source="MONDO:relatedTo"} xref: UMLS:C1849383 {source="OMIM:268240", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1849384 {source="OMIM:268240", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_obsolete: true -consider: MONDO:0017767 {source="ORDO:3099/btnt"} +consider: MONDO:0017767 {source="Orphanet:3099/btnt"} [Term] id: MONDO:0009996 @@ -191981,11 +191946,11 @@ synonym: "familial rhizomelic dysplasia" RELATED [GARD:0004705] synonym: "rhizomelic dysplasia, familial" RELATED [OMIM:268250] synonym: "rhizomelic syndrome" RELATED [OMIM:268250] xref: GARD:0004705 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:3098/attributed", source="ORDO:3098/ntbt", source="Orphanet:3098"} -xref: MESH:C537611 {source="MONDO:equivalentTo", source="ORDO:3098/e", source="Orphanet:3098"} -xref: OMIM:268250 {source="MONDO:equivalentTo", source="ORDO:3098/e", source="Orphanet:3098"} +xref: ICD10CM:Q87.1 {source="Orphanet:3098/attributed", source="Orphanet:3098/ntbt", source="Orphanet:3098"} +xref: MESH:C537611 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} +xref: OMIM:268250 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} xref: Orphanet:3098 {source="OMIM:268250", source="MONDO:equivalentTo"} -xref: UMLS:C1849382 {source="OMIM:268250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3098/e", source="Orphanet:3098"} +xref: UMLS:C1849382 {source="OMIM:268250", source="NCBI:mim2gene_medline", source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"} is_a: MONDO:0019697 {source="Orphanet:3098"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "8.6" xsd:double @@ -192006,8 +191971,8 @@ synonym: "SC pseudothalidomide syndrome" NARROW [Orphanet:3103] synonym: "tetraphocomelia-cleft palate syndrome" EXACT [GARD:0007387] xref: DOID:5325 {source="MONDO:equivalentTo"} xref: GARD:0007387 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="Orphanet:3103", source="ORDO:3103/attributed", source="ORDO:3103/ntbt"} -xref: MESH:C535687 {source="Orphanet:3103", source="ORDO:3103/e", source="DOID:5325", source="MONDO:equivalentTo"} +xref: ICD10CM:Q73.8 {source="Orphanet:3103", source="Orphanet:3103/attributed", source="Orphanet:3103/ntbt"} +xref: MESH:C535687 {source="Orphanet:3103", source="DOID:5325", source="MONDO:equivalentTo", source="Orphanet:3103/e"} xref: NCIT:C126326 {source="MONDO:equivalentTo"} xref: NCIT:C4681 {source="MONDO:subClassOf", source="DOID:5325"} xref: Orphanet:3103 {source="MONDO:equivalentTo", source="OMIM:268300"} @@ -192037,12 +192002,12 @@ synonym: "short stature, Robin sequence, cleft mandible, pre/postaxial hand anom synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] xref: GARD:0004718 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3102", source="ORDO:3102/attributed", source="ORDO:3102/ntbt"} -xref: MESH:C535677 {source="ORDO:3102/e", source="Orphanet:3102", source="MONDO:equivalentTo"} -xref: OMIM:268305 {source="ORDO:3102/e", source="Orphanet:3102", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:3102/attributed", source="Orphanet:3102/ntbt", source="Orphanet:3102"} +xref: MESH:C535677 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} +xref: OMIM:268305 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} xref: Orphanet:3102 {source="MONDO:equivalentTo", source="OMIM:268305"} xref: SCTID:723998001 {source="MONDO:equivalentTo"} -xref: UMLS:C1849348 {source="ORDO:3102/e", source="Orphanet:3102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268305"} +xref: UMLS:C1849348 {source="Orphanet:3102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3102/e", source="OMIM:268305"} is_a: MONDO:0015161 {source="Orphanet:3102", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:3102"} ! orofacial clefting syndrome is_a: MONDO:0043008 {source="Orphanet:3102"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -192066,12 +192031,12 @@ synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phal synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [OMIM:268310] synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, OMIM:268310, Orphanet:1507] xref: DOID:0060764 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="DOID:0060764", source="Orphanet:1507", source="ORDO:1507/attributed", source="ORDO:1507/ntbt"} -xref: MESH:C535863 {source="MONDO:equivalentTo", source="Orphanet:1507", source="ORDO:1507/e"} -xref: OMIM:268310 {source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507", source="ORDO:1507/e"} +xref: ICD10CM:Q87.1 {source="DOID:0060764", source="Orphanet:1507/attributed", source="Orphanet:1507/ntbt", source="Orphanet:1507"} +xref: MESH:C535863 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="Orphanet:1507"} +xref: OMIM:268310 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507"} xref: Orphanet:1507 {source="OMIM:268310", source="MONDO:equivalentTo", source="DOID:0060764"} xref: Orphanet:97360 {source="MONDO:subClassOf", source="OMIM:268310", source="DOID:0060764"} -xref: UMLS:C1849334 {source="OMIM:268310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1507", source="ORDO:1507/e"} +xref: UMLS:C1849334 {source="Orphanet:1507/e", source="OMIM:268310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1507"} xref: UMLS:C3151609 {source="OMIM:268310", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3151610 {source="OMIM:268310", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019978 {source="DC-OMIM:268310", source="DOID:0060764", source="MONDO:Redundant", source="OMIM:268310", source="Orphanet:1507"} ! Robinow syndrome @@ -192098,9 +192063,9 @@ synonym: "microphthalmia, microcornea, and sclerocornea with short stature and h synonym: "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [GARD:0000293] synonym: "RODRIGUES blindness" RELATED [OMIM:268320] xref: GARD:0000293 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1806/attributed", source="ORDO:1806/ntbt", source="Orphanet:1806"} +xref: ICD10CM:Q87.8 {source="Orphanet:1806/attributed", source="Orphanet:1806/ntbt", source="Orphanet:1806"} xref: MESH:C535865 {source="MONDO:equivalentTo"} -xref: OMIM:268320 {source="MONDO:equivalentTo", source="Orphanet:1806", source="ORDO:1806/e"} +xref: OMIM:268320 {source="Orphanet:1806/e", source="MONDO:equivalentTo", source="Orphanet:1806"} xref: Orphanet:1806 {source="OMIM:268320", source="MONDO:equivalentTo"} xref: UMLS:C1849332 {source="NCBI:mim2gene_medline", source="OMIM:268320", source="MONDO:equivalentTo", source="Orphanet:1806"} is_a: MONDO:0005328 ! eye disorder @@ -192122,16 +192087,16 @@ synonym: "Rothmund-Thomson syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMI synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, OMIM:268400, Orphanet:2909] xref: DOID:2732 {source="MONDO:equivalentTo"} xref: GARD:0004392 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:2909", source="DOID:2732", source="ORDO:2909/ntbt", source="ORDO:2909/index"} +xref: ICD10CM:Q82.8 {source="Orphanet:2909/ntbt", source="Orphanet:2909", source="Orphanet:2909/index", source="DOID:2732"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D011038 {source="ORDO:2909/e", source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo"} +xref: MESH:D011038 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} xref: NCIT:C3335 {source="DOID:2732", source="MONDO:equivalentTo"} xref: OMIMPS:268400 {source="MONDO:equivalentTo"} xref: Orphanet:2909 {source="MONDO:equivalentTo", source="OMIM:268400"} xref: SCTID:205565002 {source="DOID:2732"} xref: SCTID:205572001 {source="DOID:2732"} xref: SCTID:69093006 {source="DOID:2732", source="MONDO:equivalentTo"} -xref: UMLS:C0032339 {source="ORDO:2909/e", source="Orphanet:2909", source="NCBI:mim2gene_medline", source="DOID:2732", source="MONDO:equivalentTo", source="OMIM:268400", source="NCIT:C3335"} +xref: UMLS:C0032339 {source="Orphanet:2909", source="NCBI:mim2gene_medline", source="DOID:2732", source="MONDO:equivalentTo", source="OMIM:268400", source="Orphanet:2909/e", source="NCIT:C3335"} is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0015333 {source="Orphanet:2909"} ! progeroid syndrome @@ -192178,16 +192143,16 @@ synonym: "Rudiger syndrome 1" EXACT [DOID:0060782] synonym: "Walker-Clodius syndrome" EXACT [DOID:0060782] xref: DOID:0060782 {source="MONDO:equivalentTo"} xref: GARD:0002076 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="DOID:0060782", source="ORDO:1896/attributed", source="ORDO:1896/ntbt", source="Orphanet:1896"} +xref: ICD10CM:Q82.4 {source="DOID:0060782", source="Orphanet:1896", source="Orphanet:1896/attributed", source="Orphanet:1896/ntbt"} xref: MESH:C536189 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C148261 {source="MONDO:equivalentTo"} -xref: OMIM:129900 {source="MONDO:superClassOf", source="ORDO:1896/btnt", source="Orphanet:1896"} +xref: OMIM:129900 {source="MONDO:superClassOf", source="Orphanet:1896", source="Orphanet:1896/btnt"} xref: OMIM:268650 {source="MONDO:equivalentTo"} -xref: OMIM:604292 {source="ORDO:1896/e", source="MONDO:superClassOf", source="Orphanet:1896"} +xref: OMIM:604292 {source="MONDO:superClassOf", source="Orphanet:1896", source="Orphanet:1896/e"} xref: Orphanet:1896 {source="DOID:0060782", source="MONDO:equivalentTo"} xref: Orphanet:3118 {source="OMIM:268650"} xref: SCTID:39788007 {source="MONDO:equivalentTo"} -xref: UMLS:C0406704 {source="DOID:0060782", source="ORDO:1896/e", source="NCBI:mim2gene_medline", source="OMIM:268650", source="MONDO:equivalentTo", source="Orphanet:1896"} +xref: UMLS:C0406704 {source="DOID:0060782", source="NCBI:mim2gene_medline", source="OMIM:268650", source="MONDO:equivalentTo", source="Orphanet:1896", source="Orphanet:1896/e"} xref: UMLS:C1851841 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1896"} xref: UMLS:CN776907 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0060782", source="MONDO:Redundant"} ! autosomal dominant disease @@ -192213,14 +192178,14 @@ synonym: "hyperlysinemia, type 2" RELATED [OMIM:268700] synonym: "saccharopine dehydrogenase deficiency" EXACT [OMIM:268700, Orphanet:3124] synonym: "saccharopinuria" EXACT [OMIM:268700] xref: GARD:0000314 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="Orphanet:3124", source="ORDO:3124/attributed", source="ORDO:3124/ntbt"} +xref: ICD10CM:E72.3 {source="MONDO:subClassOf", source="Orphanet:3124/attributed", source="Orphanet:3124/ntbt", source="Orphanet:3124"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537218 {source="ORDO:3124/e", source="Orphanet:3124", source="MONDO:equivalentTo"} -xref: OMIM:268700 {source="ORDO:3124/e", source="Orphanet:3124", source="MONDO:equivalentTo"} +xref: MESH:C537218 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"} +xref: OMIM:268700 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"} xref: Orphanet:3124 {source="MONDO:equivalentTo", source="OMIM:268700"} xref: SCTID:111397004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268556 {source="ORDO:3124/e", source="Orphanet:3124", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268700"} -xref: UMLS:C2936921 {source="ORDO:3124/e", source="Orphanet:3124", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268556 {source="Orphanet:3124", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3124/e", source="OMIM:268700"} +xref: UMLS:C2936921 {source="Orphanet:3124", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3124/e"} is_a: MONDO:0017351 {source="Orphanet:3124"} ! inborn disorder of lysine and hydroxylysine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17366 {source="mim2gene_medgen"} ! AASS property_value: confidence "5.388888888888888" xsd:double @@ -192250,17 +192215,17 @@ synonym: "total hexosaminidase deficiency" RELATED [GARD:0007604] xref: DOID:3323 {source="MONDO:equivalentTo"} xref: GARD:0002521 {source="MONDO:equivalentTo"} xref: GARD:0007604 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:796", source="ORDO:796/inclusion", source="ORDO:796/ntbt"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:796", source="Orphanet:796/ntbt", source="Orphanet:796/inclusion"} xref: ICD10CM:E75.01 {source="DOID:3323", source="MONDO:equivalentTo"} -xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="ORDO:796/e"} +xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"} xref: NCIT:C85052 {source="DOID:3323", source="MONDO:equivalentTo"} -xref: OMIM:268800 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="ORDO:796/e"} +xref: OMIM:268800 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"} xref: Orphanet:309155 {source="MONDO:superClassOf", source="OMIM:268800"} xref: Orphanet:309162 {source="MONDO:superClassOf", source="OMIM:268800"} xref: Orphanet:309169 {source="MONDO:superClassOf", source="OMIM:268800"} xref: Orphanet:796 {source="MONDO:equivalentTo", source="OMIM:268800"} xref: SCTID:23849003 {source="DOID:3323", source="MONDO:equivalentTo"} -xref: UMLS:C0036161 {source="Orphanet:796", source="DOID:3323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85052", source="OMIM:268800", source="ORDO:796/e"} +xref: UMLS:C0036161 {source="Orphanet:796", source="DOID:3323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85052", source="Orphanet:796/e", source="OMIM:268800"} xref: UMLS:C1849320 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:268800"} xref: UMLS:C1849321 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:268800"} xref: UMLS:C1849322 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:268800"} @@ -192287,8 +192252,8 @@ synonym: "sao Paulo MCA/Mr syndrome" RELATED [OMIM:268850] synonym: "short stature, intellectual disability, eye anomalies, and cleft Lip/palate" RELATED [OMIM:268850] synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED DEPRECATED [OMIM:268850] xref: GARD:0003596 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2511", source="ORDO:2511/attributed", source="ORDO:2511/ntbt"} -xref: OMIM:268850 {source="Orphanet:2511", source="ORDO:2511/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2511/attributed", source="Orphanet:2511/ntbt", source="Orphanet:2511"} +xref: OMIM:268850 {source="Orphanet:2511", source="MONDO:equivalentTo", source="Orphanet:2511/e"} xref: Orphanet:2511 {source="GARD:0003596", source="MONDO:equivalentTo", source="OMIM:268850"} xref: UMLS:C0796142 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268850"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2511", source="indirect"} ! syndromic intellectual disability @@ -192306,19 +192271,18 @@ subset: ordo_disease {source="Orphanet:3129"} synonym: "hypersarcosinemia" RELATED [OMIM:268900] synonym: "SARCOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268900] synonym: "sarcosine dehydrogenase complex deficiency" RELATED [OMIM:268900, Orphanet:3129] -synonym: "sarcosinemia" EXACT [OMIM:268900, OMIM:genemap2] -synonym: "sarcosinemia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:268900] +synonym: "sarcosinemia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:268900, OMIM:genemap2] synonym: "SARD deficiency" RELATED [OMIM:268900] synonym: "SARDH deficiency" RELATED [OMIM:268900] xref: GARD:0000158 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.5 {source="ORDO:3129/ntbt", source="Orphanet:3129", source="ORDO:3129/inclusion"} +xref: ICD10CM:E72.5 {source="Orphanet:3129/inclusion", source="Orphanet:3129", source="Orphanet:3129/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059299 {source="Orphanet:3129", source="ORDO:3129/e"} -xref: MESH:C537236 {source="MONDO:equivalentTo", source="Orphanet:3129", source="ORDO:3129/e"} -xref: OMIM:268900 {source="MONDO:equivalentTo", source="Orphanet:3129", source="ORDO:3129/e"} +xref: MedDRA:10059299 {source="Orphanet:3129", source="Orphanet:3129/e"} +xref: MESH:C537236 {source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e"} +xref: OMIM:268900 {source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e"} xref: Orphanet:3129 {source="MONDO:equivalentTo", source="OMIM:268900"} xref: SCTID:64852002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3129", source="ORDO:3129/e", source="OMIM:268900"} +xref: UMLS:C0268563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e", source="OMIM:268900"} is_a: MONDO:0019239 {source="Orphanet:3129"} ! inborn disorder of serine family metabolism relationship: disease_has_basis_in_disruption_of GO:0006544 ! glycine metabolic process relationship: disease_has_basis_in_disruption_of GO:0008480 ! sarcosine dehydrogenase activity @@ -192349,15 +192313,15 @@ synonym: "Schinzel-Giedion syndrome" EXACT CLINGEN_PREFERRED [GARD:0000117] synonym: "SGS" EXACT ABBREVIATION [Orphanet:798] synonym: "Sgs" RELATED [OMIM:269150] xref: GARD:0000117 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:798", source="ORDO:798/attributed", source="ORDO:798/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:798/attributed", source="Orphanet:798/ntbt", source="Orphanet:798"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063540 {source="Orphanet:798", source="ORDO:798/e"} +xref: MedDRA:10063540 {source="Orphanet:798", source="Orphanet:798/e"} xref: MESH:C536632 {source="MONDO:equivalentTo"} xref: NCIT:C129308 {source="MONDO:equivalentTo"} -xref: OMIM:269150 {source="Orphanet:798", source="MONDO:equivalentTo", source="GARD:0000117", source="ORDO:798/e"} +xref: OMIM:269150 {source="Orphanet:798", source="MONDO:equivalentTo", source="GARD:0000117", source="Orphanet:798/e"} xref: Orphanet:798 {source="MONDO:equivalentTo", source="GARD:0000117", source="OMIM:269150"} xref: SCTID:18899000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265227 {source="Orphanet:798", source="MONDO:equivalentTo", source="NCIT:C129308", source="ORDO:798/e", source="OMIM:269150"} +xref: UMLS:C0265227 {source="Orphanet:798", source="MONDO:equivalentTo", source="Orphanet:798/e", source="NCIT:C129308", source="OMIM:269150"} xref: UMLS:C1849294 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="Orphanet:798", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129308", source="indirect"} ! syndromic disease @@ -192377,10 +192341,10 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:799"} synonym: "schizencephaly" EXACT CLINGEN_PREFERRED [OMIM:269160] xref: GARD:0000166 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.6 {source="Orphanet:799", source="ORDO:799/inclusion", source="ORDO:799/ntbt"} +xref: ICD10CM:Q04.6 {source="Orphanet:799/inclusion", source="Orphanet:799", source="Orphanet:799/ntbt"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C99056 {source="MONDO:equivalentTo"} -xref: OMIM:269160 {source="ORDO:799/e", source="Orphanet:799", source="GARD:0000166", source="MONDO:equivalentTo"} +xref: OMIM:269160 {source="Orphanet:799", source="GARD:0000166", source="MONDO:equivalentTo", source="Orphanet:799/e"} xref: Orphanet:799 {source="GARD:0000166", source="MONDO:equivalentTo", source="OMIM:269160"} xref: SCTID:253159001 {source="MONDO:equivalentTo"} xref: UMLS:C0266484 {source="Orphanet:799", source="NCBI:mim2gene_medline", source="NCIT:C99056", source="MONDO:notFoundInDiseaseSubset", source="OMIM:269160"} @@ -192411,10 +192375,10 @@ synonym: "Schmidt syndrome" EXACT [DOID:0050168, OMIM:269200, Orphanet:3143] synonym: "Schmidt's syndrome" RELATED [GARD:0007611] xref: DOID:0050168 {source="MONDO:equivalentTo"} xref: GARD:0007611 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="ORDO:3143/specific", source="Orphanet:3143", source="ORDO:3143/e"} +xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="Orphanet:3143/specific", source="Orphanet:3143/e", source="Orphanet:3143"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C129728 {source="MONDO:equivalentTo"} -xref: OMIM:269200 {source="MONDO:equivalentTo", source="Orphanet:3143", source="ORDO:3143/e"} +xref: OMIM:269200 {source="Orphanet:3143/e", source="MONDO:equivalentTo", source="Orphanet:3143"} xref: Orphanet:3143 {source="OMIM:269200", source="MONDO:equivalentTo"} xref: SCTID:83728000 {source="MONDO:equivalentTo"} xref: UMLS:C0085860 {source="NCBI:mim2gene_medline", source="OMIM:269200", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C129728", source="Orphanet:3143"} @@ -192437,13 +192401,13 @@ synonym: "SHNKND" RELATED ABBREVIATION [OMIM:269250] synonym: "SLC35D1-CDG" EXACT [Orphanet:3144] xref: DOID:0050775 {source="MONDO:equivalentTo"} xref: GARD:0000169 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:3144", source="ORDO:3144/attributed", source="ORDO:3144/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:3144", source="Orphanet:3144/attributed", source="Orphanet:3144/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="ORDO:3144/e"} -xref: OMIM:269250 {source="Orphanet:3144", source="DOID:0050775", source="MONDO:equivalentTo", source="ORDO:3144/e"} +xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="Orphanet:3144/e"} +xref: OMIM:269250 {source="Orphanet:3144", source="DOID:0050775", source="MONDO:equivalentTo", source="Orphanet:3144/e"} xref: Orphanet:3144 {source="MONDO:equivalentTo", source="OMIM:269250"} xref: SCTID:254049009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432194 {source="Orphanet:3144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:269250", source="ORDO:3144/e"} +xref: UMLS:C0432194 {source="Orphanet:3144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3144/e", source="OMIM:269250"} is_a: MONDO:0005516 {source="DOID:0050775", source="MESH:C536637", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0017744 {source="Orphanet:3144"} ! disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:3144"} ! congenital disorder of glycosylation-related bone disorder @@ -192461,8 +192425,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:85184"} synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:269300] synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269300] synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300] -xref: ICD10CM:Q78.8 {source="ORDO:85184/attributed", source="ORDO:85184/ntbt", source="Orphanet:85184"} -xref: OMIM:269300 {source="MONDO:equivalentTo", source="ORDO:85184/e", source="Orphanet:85184"} +xref: ICD10CM:Q78.8 {source="Orphanet:85184/attributed", source="Orphanet:85184/ntbt", source="Orphanet:85184"} +xref: OMIM:269300 {source="Orphanet:85184/e", source="MONDO:equivalentTo", source="Orphanet:85184"} xref: Orphanet:85184 {source="OMIM:269300", source="MONDO:equivalentTo"} xref: SCTID:278833002 {source="MONDO:equivalentTo"} xref: UMLS:C0265292 {source="OMIM:269300", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -192490,7 +192454,7 @@ synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:p synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400] synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648] xref: DOID:0060648 {source="MONDO:equivalentTo"} -xref: OMIM:269400 {source="Orphanet:289499", source="ORDO:289499/e", source="MONDO:equivalentTo"} +xref: OMIM:269400 {source="Orphanet:289499", source="MONDO:equivalentTo", source="Orphanet:289499/e"} xref: Orphanet:289499 {source="MONDO:equivalentTo", source="OMIM:269400"} xref: UMLS:C1853235 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3151617 {source="MONDO:equivalentTo", source="OMIM:269400"} @@ -192539,13 +192503,13 @@ synonym: "sea-blue histiocytosis" RELATED [OMIM:269600] xref: DOID:4423 {source="MONDO:equivalentTo", source="EFO:1001170"} xref: EFO:1001170 {source="MONDO:equivalentTo"} xref: GARD:0008241 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D76.3 {source="Orphanet:158029", source="ORDO:158029/attributed", source="ORDO:158029/ntbt"} +xref: ICD10CM:D76.3 {source="Orphanet:158029/attributed", source="Orphanet:158029/ntbt", source="Orphanet:158029"} xref: MESH:D012618 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} xref: NCIT:C85062 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} -xref: OMIM:269600 {source="Orphanet:158029", source="DOID:4423", source="ORDO:158029/e", source="MONDO:equivalentTo"} +xref: OMIM:269600 {source="Orphanet:158029", source="DOID:4423", source="MONDO:equivalentTo", source="Orphanet:158029/e"} xref: Orphanet:158029 {source="MONDO:equivalentTo", source="OMIM:269600"} xref: SCTID:37821003 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} -xref: UMLS:C0036489 {source="NCIT:C85062", source="Orphanet:158029", source="DOID:4423", source="NCBI:mim2gene_medline", source="ORDO:158029/e", source="MONDO:equivalentTo", source="OMIM:269600"} +xref: UMLS:C0036489 {source="NCIT:C85062", source="Orphanet:158029", source="DOID:4423", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:269600", source="Orphanet:158029/e"} is_a: MONDO:0002254 {source="NCIT:C85062"} ! syndromic disease is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618"} ! non-Langerhans cell histiocytosis is_a: MONDO:0019255 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! sphingolipidosis @@ -192607,7 +192571,7 @@ xref: OMIM:269700 {source="MONDO:equivalentTo", source="DOID:0111136"} xref: Orphanet:528 {source="MONDO:subClassOf", source="OMIM:269700"} xref: UMLS:C1720863 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:269700"} is_a: MONDO:0006536 {source="DC-OMIM:269700", source="DOID:0111136", source="MONDO:Redundant", source="OMIM:269700"} ! congenital generalized lipodystrophy -is_a: MONDO:0018883 {source="ORDO:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy +is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15832 ! BSCL2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15832 {source="mim2gene_medgen"} ! BSCL2 @@ -192652,9 +192616,9 @@ synonym: "STCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269840] synonym: "ZAP-70 deficiency" RELATED [GARD:0000387] synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911] xref: GARD:0000387 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D81.8 {source="Orphanet:911", source="ORDO:911/attributed", source="ORDO:911/ntbt"} +xref: ICD10CM:D81.8 {source="Orphanet:911/attributed", source="Orphanet:911/ntbt", source="Orphanet:911"} xref: MESH:C536722 {source="MONDO:equivalentTo"} -xref: OMIM:269840 {source="ORDO:911/e", source="Orphanet:911", source="MONDO:equivalentTo"} +xref: OMIM:269840 {source="Orphanet:911", source="MONDO:equivalentTo", source="Orphanet:911/e"} xref: Orphanet:911 {source="MONDO:equivalentTo", source="OMIM:269840"} xref: SCTID:716378008 {source="MONDO:equivalentTo"} xref: UMLS:C1849236 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -192684,10 +192648,10 @@ synonym: "SRTD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269860] synonym: "type IV short rib polydactyly syndrome" EXACT [DOID:9249] xref: DOID:9249 {source="MONDO:equivalentTo"} xref: GARD:0004832 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.2 {source="Orphanet:93268", source="ORDO:93268/attributed", source="ORDO:93268/ntbt"} +xref: ICD10CM:Q77.2 {source="Orphanet:93268", source="Orphanet:93268/attributed", source="Orphanet:93268/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537599 {source="DOID:9249", source="MONDO:equivalentTo"} -xref: OMIM:269860 {source="DOID:9249", source="ORDO:93268/e", source="MONDO:equivalentTo", source="Orphanet:93268"} +xref: OMIM:269860 {source="DOID:9249", source="MONDO:equivalentTo", source="Orphanet:93268", source="Orphanet:93268/e"} xref: Orphanet:93268 {source="OMIM:269860", source="MONDO:equivalentTo"} xref: SCTID:254052001 {source="DOID:9249", source="MONDO:equivalentTo"} xref: UMLS:C0432198 {source="DOID:9249", source="NCBI:mim2gene_medline", source="OMIM:269860", source="MONDO:equivalentTo", source="Orphanet:93268"} @@ -192724,11 +192688,11 @@ synonym: "SHORT syndrome" EXACT CLINGEN_PREFERRED [] synonym: "short syndrome" EXACT [OMIM:269880] xref: DOID:0111454 {source="MONDO:equivalentTo"} xref: GARD:0007633 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:3163", source="ORDO:3163/attributed", source="ORDO:3163/ntbt"} -xref: MESH:C537327 {source="MONDO:equivalentTo", source="Orphanet:3163", source="ORDO:3163/e"} -xref: OMIM:269880 {source="MONDO:equivalentTo", source="Orphanet:3163", source="ORDO:3163/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:3163/attributed", source="Orphanet:3163/ntbt", source="Orphanet:3163"} +xref: MESH:C537327 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} +xref: OMIM:269880 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} xref: Orphanet:3163 {source="OMIM:269880", source="MONDO:equivalentTo"} -xref: UMLS:C0878684 {source="OMIM:269880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3163", source="ORDO:3163/e"} +xref: UMLS:C0878684 {source="Orphanet:3163/e", source="OMIM:269880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3163"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015160 {source="Orphanet:3163", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -192755,14 +192719,14 @@ synonym: "Nana storage disease" RELATED [OMIM:269920] synonym: "sialic acid storage disorder, infantile" EXACT [OMIM:269920, OMIM:genemap2] synonym: "sialuria, infantile form" RELATED [GARD:0000175, OMIM:269920] xref: GARD:0000175 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:309324/attributed", source="ORDO:309324/ntbt", source="Orphanet:309324"} -xref: MedDRA:10067532 {source="Orphanet:309324", source="ORDO:309324/e"} -xref: OMIM:269920 {source="GARD:0000175", source="MONDO:equivalentTo", source="Orphanet:309324", source="ORDO:309324/e"} +xref: ICD10CM:E77.8 {source="Orphanet:309324", source="Orphanet:309324/attributed", source="Orphanet:309324/ntbt"} +xref: MedDRA:10067532 {source="Orphanet:309324/e", source="Orphanet:309324"} +xref: OMIM:269920 {source="Orphanet:309324/e", source="GARD:0000175", source="MONDO:equivalentTo", source="Orphanet:309324"} xref: Orphanet:309324 {source="MONDO:equivalentTo", source="OMIM:269920"} xref: Orphanet:834 {source="MONDO:subClassOf", source="OMIM:269920"} xref: SCTID:34566007 {source="MONDO:equivalentTo"} xref: UMLS:C1096902 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:269920", source="Orphanet:309324"} -xref: UMLS:C1963905 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309324", source="ORDO:309324/e"} +xref: UMLS:C1963905 {source="Orphanet:309324/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309324"} xref: UMLS:C2930923 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:269920"} is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019366 {source="Orphanet:309324"} ! free sialic acid storage disease @@ -192781,18 +192745,18 @@ synonym: "sialuria" EXACT [OMIM:269921] synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166] xref: DOID:3659 {source="MONDO:equivalentTo"} xref: GARD:0004865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:3166", source="ORDO:3166/attributed", source="ORDO:3166/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:3166", source="Orphanet:3166/attributed", source="Orphanet:3166/ntbt"} xref: ICD9:796.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10067529 {source="Orphanet:3166", source="ORDO:3166/e"} -xref: MESH:C537332 {source="Orphanet:3166", source="ORDO:3166/e"} +xref: MedDRA:10067529 {source="Orphanet:3166", source="Orphanet:3166/e"} +xref: MESH:C537332 {source="Orphanet:3166", source="Orphanet:3166/e"} xref: MESH:D029461 {source="DOID:3659"} xref: NCIT:C85067 {source="MONDO:superClassOf", source="DOID:3659"} -xref: OMIM:269921 {source="Orphanet:3166", source="MONDO:equivalentTo", source="DOID:3659", source="ORDO:3166/e"} +xref: OMIM:269921 {source="Orphanet:3166", source="MONDO:equivalentTo", source="Orphanet:3166/e", source="DOID:3659"} xref: OMIM:604369 {source="MONDO:superClassOf", source="DOID:3659"} xref: Orphanet:3166 {source="MONDO:equivalentTo", source="OMIM:269921"} xref: SCTID:238051008 {source="MONDO:equivalentTo", source="DOID:3659"} xref: UMLS:C0342853 {source="Orphanet:3166", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:3659", source="OMIM:269921"} -xref: UMLS:C2931471 {source="Orphanet:3166", source="MONDO:notFoundInDiseaseSubset", source="OMIM:269921", source="ORDO:3166/e"} +xref: UMLS:C2931471 {source="Orphanet:3166", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3166/e", source="OMIM:269921"} is_a: MONDO:0017736 {source="Orphanet:3166", source="linkedlifedata"} ! disorder of sialic acid metabolism is_a: MONDO:0019366 ! free sialic acid storage disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23657 {source="mim2gene_medgen"} ! GNE @@ -192820,7 +192784,7 @@ synonym: "SIV" RELATED ABBREVIATION [GARD:0004883] xref: DOID:758 {source="MONDO:equivalentTo"} xref: GARD:0004883 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0001696 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q89.3 {source="ORDO:101063/inclusion", source="DOID:758", source="MONDO:equivalentTo", source="Orphanet:101063", source="ORDO:101063/ntbt"} +xref: ICD10CM:Q89.3 {source="DOID:758", source="MONDO:equivalentTo", source="Orphanet:101063/ntbt", source="Orphanet:101063/inclusion", source="Orphanet:101063"} xref: ICD9:759.3 {source="DOID:758"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D012857 {source="DOID:758", source="MONDO:equivalentTo"} @@ -192910,15 +192874,15 @@ synonym: "SLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270200] xref: DOID:14501 {source="MONDO:equivalentTo"} xref: EFO:0007031 {source="MONDO:equivalentTo"} xref: GARD:0007654 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:816/index", source="ORDO:816/e", source="Orphanet:816"} -xref: MedDRA:10048676 {source="ORDO:816/e", source="Orphanet:816"} -xref: MESH:D016111 {source="MONDO:equivalentTo", source="ORDO:816/e", source="Orphanet:816", source="DOID:14501"} +xref: ICD10CM:Q87.1 {source="Orphanet:816", source="Orphanet:816/index", source="Orphanet:816/e"} +xref: MedDRA:10048676 {source="Orphanet:816", source="Orphanet:816/e"} +xref: MESH:D016111 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"} xref: NCIT:C85070 {source="MONDO:equivalentTo", source="DOID:14501"} -xref: OMIM:270200 {source="MONDO:equivalentTo", source="ORDO:816/e", source="Orphanet:816", source="DOID:14501"} +xref: OMIM:270200 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"} xref: Orphanet:816 {source="MONDO:equivalentTo", source="OMIM:270200"} xref: SCTID:111303009 {source="MONDO:equivalentTo", source="DOID:14501"} xref: SCTID:205549003 {source="DOID:14501"} -xref: UMLS:C0037231 {source="NCIT:C85070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:816/e", source="Orphanet:816", source="DOID:14501", source="OMIM:270200"} +xref: UMLS:C0037231 {source="NCIT:C85070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501", source="OMIM:270200"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85070", source="indirect"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0006025 {source="DOID:14501", source="indirect"} ! autosomal recessive disease @@ -192956,9 +192920,9 @@ synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300] synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1, OMIM:270300] synonym: "PSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270300] xref: GARD:0012862 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q80.8 {source="ORDO:263543/attributed", source="ORDO:263543/ntbt", source="Orphanet:263543"} -xref: OMIM:270300 {source="Orphanet:263543", source="MONDO:superClassOf", source="ORDO:263543/e"} -xref: OMIM:616265 {source="ORDO:263543/btnt", source="Orphanet:263543", source="MONDO:superClassOf"} +xref: ICD10CM:Q80.8 {source="Orphanet:263543", source="Orphanet:263543/attributed", source="Orphanet:263543/ntbt"} +xref: OMIM:270300 {source="Orphanet:263543", source="MONDO:superClassOf", source="Orphanet:263543/e"} +xref: OMIM:616265 {source="Orphanet:263543", source="MONDO:superClassOf", source="Orphanet:263543/btnt"} xref: Orphanet:263543 {source="MONDO:equivalentTo", source="OMIM:270300"} xref: Orphanet:263553 {source="MONDO:superClassOf", source="OMIM:270300"} xref: SCTID:718749004 {source="MONDO:equivalentTo"} @@ -192997,16 +192961,16 @@ synonym: "Smith-Opitz-inborn syndrome" EXACT [DOID:14692] xref: DOID:14692 {source="MONDO:equivalentTo"} xref: GARD:0005683 {source="MONDO:equivalentTo"} xref: ICD10CM:E78.72 {source="DOID:14692", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:818/ntbt", source="Orphanet:818", source="ORDO:818/inclusion"} +xref: ICD10CM:Q87.1 {source="Orphanet:818/inclusion", source="Orphanet:818", source="Orphanet:818/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D019082 {source="DOID:14692", source="MONDO:equivalentTo", source="ORDO:818/e", source="Orphanet:818"} +xref: MESH:D019082 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"} xref: NCIT:C85071 {source="DOID:14692", source="MONDO:equivalentTo"} -xref: OMIM:270400 {source="DOID:14692", source="MONDO:equivalentTo", source="ORDO:818/e", source="Orphanet:818"} +xref: OMIM:270400 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"} xref: Orphanet:818 {source="OMIM:270400", source="MONDO:equivalentTo"} xref: SCTID:43929004 {source="DOID:14692", source="MONDO:equivalentTo"} -xref: UMLS:C0175694 {source="OMIM:270400", source="NCIT:C85071", source="NCBI:mim2gene_medline", source="DOID:14692", source="MONDO:equivalentTo", source="ORDO:818/e", source="Orphanet:818"} +xref: UMLS:C0175694 {source="Orphanet:818/e", source="OMIM:270400", source="NCIT:C85071", source="NCBI:mim2gene_medline", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"} xref: UMLS:C0282644 {source="OMIM:270400", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2713347 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:818/e", source="Orphanet:818"} +xref: UMLS:C2713347 {source="Orphanet:818/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:818"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85071", source="indirect"} ! syndromic disease is_a: MONDO:0002525 {source="MONDO:Redundant", source="indirect"} ! inherited lipid metabolism disorder is_a: MONDO:0005328 ! eye disorder @@ -193043,7 +193007,7 @@ xref: UMLS:C0267663 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C2678346 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:270420"} is_a: MONDO:0000249 {source="DOID:0060781", source="indirect"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:270420", source="MONDO:Redundant", source="OMIM:270420", source="indirect"} ! congenital diarrhea -is_a: MONDO:0015170 {source="ORDO:103908/btnt"} ! congenital sodium diarrhea +is_a: MONDO:0015170 {source="Orphanet:103908/btnt"} ! congenital sodium diarrhea is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11247 ! SPINT2 @@ -193078,9 +193042,9 @@ synonym: "Somatomedin, end-organ insensitivity to" RELATED [OMIM:270450] synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609] synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450] xref: GARD:0010609 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.3 {source="ORDO:73273/attributed", source="ORDO:73273/ntbt", source="Orphanet:73273"} +xref: ICD10CM:E34.3 {source="Orphanet:73273/attributed", source="Orphanet:73273/ntbt", source="Orphanet:73273"} xref: MESH:C564816 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:270450 {source="GARD:0010609", source="MONDO:equivalentTo", source="ORDO:73273/e", source="Orphanet:73273"} +xref: OMIM:270450 {source="GARD:0010609", source="Orphanet:73273/e", source="MONDO:equivalentTo", source="Orphanet:73273"} xref: Orphanet:73273 {source="GARD:0010609", source="MONDO:equivalentTo", source="OMIM:270450"} xref: SCTID:715625007 {source="MONDO:equivalentTo"} xref: UMLS:C1849157 {source="GARD:0010609", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270450", source="Orphanet:73273"} @@ -193098,12 +193062,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1355"} synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [OMIM:270460] synonym: "Sonoda syndrome" EXACT [OMIM:270460, Orphanet:1355] xref: GARD:0004905 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1355", source="ORDO:1355/attributed", source="ORDO:1355/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1355/attributed", source="Orphanet:1355/ntbt", source="Orphanet:1355"} xref: MESH:C536680 {source="MONDO:equivalentTo"} -xref: OMIM:270460 {source="ORDO:1355/e", source="Orphanet:1355", source="MONDO:equivalentTo"} +xref: OMIM:270460 {source="Orphanet:1355", source="MONDO:equivalentTo", source="Orphanet:1355/e"} xref: Orphanet:1355 {source="MONDO:equivalentTo", source="OMIM:270460"} xref: SCTID:715987000 {source="MONDO:equivalentTo"} -xref: UMLS:C0796162 {source="ORDO:1355/e", source="NCBI:mim2gene_medline", source="Orphanet:1355", source="MONDO:equivalentTo", source="OMIM:270460"} +xref: UMLS:C0796162 {source="NCBI:mim2gene_medline", source="Orphanet:1355", source="MONDO:equivalentTo", source="OMIM:270460", source="Orphanet:1355/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1355", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1355"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -193138,12 +193102,12 @@ synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical, OMIM synonym: "SPAX6" EXACT ABBREVIATION [Orphanet:98] xref: DOID:0050946 {source="MONDO:equivalentTo"} xref: GARD:0004910 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:98", source="ORDO:98/attributed", source="ORDO:98/ntbt"} -xref: MESH:C536787 {source="Orphanet:98", source="ORDO:98/e", source="MONDO:equivalentTo"} -xref: OMIM:270550 {source="Orphanet:98", source="ORDO:98/e", source="MONDO:equivalentTo", source="DOID:0050946"} +xref: ICD10CM:G11.1 {source="Orphanet:98", source="Orphanet:98/attributed", source="Orphanet:98/ntbt"} +xref: MESH:C536787 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e"} +xref: OMIM:270550 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e", source="DOID:0050946"} xref: Orphanet:98 {source="MONDO:equivalentTo", source="OMIM:270550"} xref: SCTID:702445005 {source="MONDO:equivalentTo"} -xref: UMLS:C1849140 {source="Orphanet:98", source="ORDO:98/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270550"} +xref: UMLS:C1849140 {source="Orphanet:98", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98/e", source="OMIM:270550"} is_a: MONDO:0015244 {source="DOID:0050946", source="indirect"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:270550", source="Orphanet:98/inferred"} ! spastic ataxia is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:98"} ! autosomal recessive spastic ataxia @@ -193187,9 +193151,9 @@ synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [DOID:0110770, synonym: "SPG17" EXACT ABBREVIATION [DOID:0110770, MONDO:Lexical, OMIM:270685, Orphanet:100998] xref: DOID:0110770 {source="MONDO:equivalentTo"} xref: GARD:0004219 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100998/attributed", source="ORDO:100998/ntbt", source="Orphanet:100998", source="DOID:0110770"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/attributed", source="Orphanet:100998/ntbt"} xref: MESH:C536644 {source="MONDO:equivalentTo"} -xref: OMIM:270685 {source="MONDO:equivalentTo", source="Orphanet:100998", source="ORDO:100998/e", source="DOID:0110770"} +xref: OMIM:270685 {source="MONDO:equivalentTo", source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/e"} xref: Orphanet:100998 {source="MONDO:equivalentTo", source="DOID:0110770", source="OMIM:270685"} xref: UMLS:C2931276 {source="MONDO:equivalentTo", source="Orphanet:100998", source="OMIM:270685"} xref: UMLS:CN074197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -193223,12 +193187,12 @@ synonym: "SPG15" EXACT ABBREVIATION [DOID:0110768, MONDO:Lexical, OMIM:270700, O synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110768 {source="MONDO:equivalentTo"} xref: GARD:0009581 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100996/attributed", source="ORDO:100996/ntbt", source="DOID:0110768", source="Orphanet:100996"} -xref: MESH:C536642 {source="MONDO:equivalentTo", source="Orphanet:100996", source="ORDO:100996/e"} -xref: OMIM:270700 {source="DOID:0110768", source="MONDO:equivalentTo", source="Orphanet:100996", source="ORDO:100996/e"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110768", source="Orphanet:100996", source="Orphanet:100996/attributed", source="Orphanet:100996/ntbt"} +xref: MESH:C536642 {source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} +xref: OMIM:270700 {source="DOID:0110768", source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} xref: Orphanet:100996 {source="OMIM:270700", source="DOID:0110768", source="MONDO:equivalentTo"} xref: SCTID:709417000 {source="MONDO:equivalentTo"} -xref: UMLS:C1849128 {source="OMIM:270700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100996", source="ORDO:100996/e"} +xref: UMLS:C1849128 {source="OMIM:270700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:100996"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110768", source="MESH:C536642", source="MONDO:Redundant", source="OMIM:270700", source="Orphanet:100996/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia @@ -193248,9 +193212,9 @@ synonym: "moved to 270550, 190350, and 616944" RELATED [OMIM:270710] synonym: "spastic paraplegia associated with brachydactyly type E" RELATED [OMIM:270710] xref: GARD:0002343 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537938 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:270710 {source="MONDO:obsoleteEquivalent", source="Orphanet:2823", source="ORDO:2823/e"} +xref: OMIM:270710 {source="MONDO:obsoleteEquivalent", source="Orphanet:2823", source="Orphanet:2823/e"} xref: Orphanet:2823 {source="OMIM:270710", source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0795942 {source="OMIM:270710", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:2823", source="ORDO:2823/e"} +xref: UMLS:C0795942 {source="OMIM:270710", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:2823", source="Orphanet:2823/e"} property_value: confidence "7.125" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1686 xsd:anyURI is_obsolete: true @@ -193278,9 +193242,9 @@ synonym: "SPG 23" RELATED [GARD:0000336] synonym: "SPG23" EXACT ABBREVIATION [DOID:0110774, MONDO:Lexical, OMIM:270750, Orphanet:101003] xref: DOID:0110774 {source="MONDO:equivalentTo"} xref: GARD:0000336 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101003", source="ORDO:101003/attributed", source="ORDO:101003/ntbt", source="DOID:0110774"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101003", source="Orphanet:101003/attributed", source="Orphanet:101003/ntbt", source="DOID:0110774"} xref: MESH:C536859 {source="MONDO:equivalentTo"} -xref: OMIM:270750 {source="Orphanet:101003", source="ORDO:101003/e", source="MONDO:equivalentTo", source="DOID:0110774"} +xref: OMIM:270750 {source="Orphanet:101003", source="MONDO:equivalentTo", source="Orphanet:101003/e", source="DOID:0110774"} xref: Orphanet:101003 {source="MONDO:equivalentTo", source="DOID:0110774", source="OMIM:270750"} xref: SCTID:726608002 {source="MONDO:equivalentTo"} xref: UMLS:C0796019 {source="Orphanet:101003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270750"} @@ -193310,13 +193274,13 @@ synonym: "spastic paraplegia type 5B, recessive" EXACT [OMIM:270800] synonym: "SPG5A" EXACT ABBREVIATION [DOID:0110810, MONDO:Lexical, OMIM:270800, Orphanet:100986] xref: DOID:0110810 {source="MONDO:equivalentTo"} xref: GARD:0004926 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110810", source="ORDO:100986/attributed", source="ORDO:100986/ntbt", source="Orphanet:100986"} -xref: MESH:C536871 {source="ORDO:100986/e", source="Orphanet:100986"} -xref: OMIM:270800 {source="DOID:0110810", source="MONDO:equivalentTo", source="ORDO:100986/e", source="Orphanet:100986"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110810", source="Orphanet:100986", source="Orphanet:100986/attributed", source="Orphanet:100986/ntbt"} +xref: MESH:C536871 {source="Orphanet:100986", source="Orphanet:100986/e"} +xref: OMIM:270800 {source="DOID:0110810", source="MONDO:equivalentTo", source="Orphanet:100986", source="Orphanet:100986/e"} xref: Orphanet:100986 {source="DOID:0110810", source="OMIM:270800", source="MONDO:equivalentTo"} xref: SCTID:763373005 {source="MONDO:equivalentTo"} xref: UMLS:C1849115 {source="NCBI:mim2gene_medline", source="OMIM:270800", source="MONDO:equivalentTo", source="Orphanet:100986"} -xref: UMLS:C2931356 {source="ORDO:100986/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100986"} +xref: UMLS:C2931356 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100986", source="Orphanet:100986/e"} xref: UMLS:C2931357 {source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="MONDO:Redundant", source="Orphanet:100986"} ! pure or complex autosomal recessive spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110810", source="MONDO:Redundant", source="OMIM:270800", source="Orphanet:100986/inferred"} ! hereditary spastic paraplegia @@ -193345,7 +193309,7 @@ synonym: "spastic paresis, glaucoma, and intellectual disability" RELATED [OMIM: synonym: "spastic paresis, glaucoma, and mental retardation" RELATED DEPRECATED [OMIM:270850] xref: GARD:0004931 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: MESH:C564809 {source="MONDO:equivalentTo"} -xref: OMIM:270850 {source="MONDO:equivalentTo", source="Orphanet:2818", source="ORDO:2818/e"} +xref: OMIM:270850 {source="Orphanet:2818/e", source="MONDO:equivalentTo", source="Orphanet:2818"} xref: Orphanet:2818 {source="MONDO:equivalentTo", source="OMIM:270850"} xref: UMLS:C1849113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:270850", source="Orphanet:2818"} is_a: MONDO:0000508 {source="Orphanet:2818"} ! syndromic intellectual disability @@ -193378,7 +193342,7 @@ synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RE synonym: "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" EXACT [Orphanet:3011] xref: GARD:0004932 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C564808 {source="MONDO:equivalentTo"} -xref: OMIM:270950 {source="MONDO:equivalentTo", source="Orphanet:3011", source="ORDO:3011/e"} +xref: OMIM:270950 {source="Orphanet:3011/e", source="MONDO:equivalentTo", source="Orphanet:3011"} xref: Orphanet:3011 {source="OMIM:270950", source="MONDO:equivalentTo"} xref: UMLS:C1849112 {source="OMIM:270950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3011"} is_a: MONDO:0000508 {source="Orphanet:3011"} ! syndromic intellectual disability @@ -193410,7 +193374,7 @@ xref: Orphanet:217034 {source="OMIM:270960"} xref: UMLS:C0232981 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:270960"} xref: UMLS:C3279437 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:270960"} is_a: MONDO:0004983 {source="DC-OMIM:270960", source="MESH:C536875", source="MONDO:Redundant", source="OMIM:270960"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 ! SYCP3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 {source="mim2gene_medgen"} ! SYCP3 @@ -193481,10 +193445,10 @@ synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical, synonym: "spinal muscular atrophy-4" EXACT [OMIM:271150, OMIM:genemap2] xref: DOID:0050529 {source="MONDO:equivalentTo"} xref: GARD:0000564 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.1 {source="Orphanet:83420", source="ORDO:83420/inclusion", source="ORDO:83420/ntbt"} +xref: ICD10CM:G12.1 {source="Orphanet:83420/inclusion", source="Orphanet:83420", source="Orphanet:83420/ntbt"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:158590 {source="MONDO:relatedTo", source="GARD:0000564"} -xref: OMIM:271150 {source="ORDO:83420/e", source="Orphanet:83420", source="MONDO:equivalentTo", source="DOID:0050529"} +xref: OMIM:271150 {source="Orphanet:83420", source="MONDO:equivalentTo", source="Orphanet:83420/e", source="DOID:0050529"} xref: Orphanet:70 {source="MONDO:subClassOf", source="OMIM:271150"} xref: Orphanet:83420 {source="MONDO:equivalentTo", source="OMIM:271150"} xref: SCTID:85505000 {source="MONDO:equivalentTo"} @@ -193558,12 +193522,12 @@ synonym: "TWNK autosomal recessive degenerative and progressive cerebellar ataxi xref: DOID:0050556 {source="MONDO:equivalentObsolete"} xref: DOID:0080126 {source="MONDO:equivalentTo"} xref: GARD:0004062 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:1186", source="ORDO:1186/attributed", source="ORDO:1186/ntbt"} -xref: MESH:C535523 {source="Orphanet:1186", source="MONDO:equivalentTo", source="ORDO:1186/e"} -xref: OMIM:271245 {source="Orphanet:1186", source="MONDO:equivalentTo", source="DOID:0050556", source="ORDO:1186/e"} +xref: ICD10CM:G11.1 {source="Orphanet:1186", source="Orphanet:1186/attributed", source="Orphanet:1186/ntbt"} +xref: MESH:C535523 {source="Orphanet:1186", source="MONDO:equivalentTo", source="Orphanet:1186/e"} +xref: OMIM:271245 {source="Orphanet:1186", source="MONDO:equivalentTo", source="DOID:0050556", source="Orphanet:1186/e"} xref: Orphanet:1186 {source="MONDO:equivalentTo", source="OMIM:271245"} xref: SCTID:724227000 {source="MONDO:equivalentTo"} -xref: UMLS:C1849096 {source="Orphanet:1186", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1186/e", source="OMIM:271245"} +xref: UMLS:C1849096 {source="Orphanet:1186", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1186/e", source="OMIM:271245"} is_a: MONDO:0016808 {source="Orphanet:1186"} ! mitochondrial DNA depletion syndrome, hepatocerebral form is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:271245", source="Orphanet:1186/inferred"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0020046 {source="Orphanet:1186"} ! autosomal recessive degenerative and progressive cerebellar ataxia @@ -193588,9 +193552,9 @@ synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [OMIM:2712 synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:271250] xref: DOID:0111612 {source="MONDO:equivalentTo"} xref: GARD:0009971 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:95433", source="ORDO:95433/attributed", source="ORDO:95433/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:95433/attributed", source="Orphanet:95433/ntbt", source="Orphanet:95433"} xref: MESH:C537309 {source="MONDO:equivalentTo"} -xref: OMIM:271250 {source="ORDO:95433/e", source="Orphanet:95433", source="MONDO:equivalentTo"} +xref: OMIM:271250 {source="Orphanet:95433", source="MONDO:equivalentTo", source="Orphanet:95433/e"} xref: Orphanet:95433 {source="MONDO:equivalentTo", source="OMIM:271250"} xref: UMLS:C1849094 {source="NCBI:mim2gene_medline", source="Orphanet:95433", source="MONDO:equivalentTo", source="OMIM:271250"} is_a: MONDO:0020047 {source="Orphanet:95433"} ! autosomal recessive syndromic cerebellar ataxia @@ -193603,9 +193567,9 @@ def: "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies asso subset: ordo_disease {source="Orphanet:1185"} synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270] xref: GARD:0004958 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:1185/attributed", source="ORDO:1185/ntbt", source="Orphanet:1185"} +xref: ICD10CM:G11.8 {source="Orphanet:1185/attributed", source="Orphanet:1185/ntbt", source="Orphanet:1185"} xref: MESH:C564802 {source="MONDO:equivalentTo"} -xref: OMIM:271270 {source="MONDO:equivalentTo", source="Orphanet:1185", source="ORDO:1185/e"} +xref: OMIM:271270 {source="Orphanet:1185/e", source="MONDO:equivalentTo", source="Orphanet:1185"} xref: Orphanet:1185 {source="MONDO:equivalentTo", source="OMIM:271270"} xref: UMLS:C1849088 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271270", source="Orphanet:1185"} is_a: MONDO:0100309 {source="Orphanet:1185"} ! hereditary ataxia @@ -193625,12 +193589,12 @@ synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [OMIM:2713 synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525] synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177] xref: GARD:0001525 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:3177", source="ORDO:3177/attributed", source="ORDO:3177/ntbt"} -xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="ORDO:3177/e"} -xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="ORDO:3177/e"} +xref: ICD10CM:G11.1 {source="Orphanet:3177", source="Orphanet:3177/attributed", source="Orphanet:3177/ntbt"} +xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} +xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} xref: Orphanet:3177 {source="MONDO:equivalentTo", source="OMIM:271310"} xref: SCTID:720750004 {source="MONDO:equivalentTo"} -xref: UMLS:C1849087 {source="Orphanet:3177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271310", source="ORDO:3177/e"} +xref: UMLS:C1849087 {source="Orphanet:3177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3177/e", source="OMIM:271310"} is_a: MONDO:0004884 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye degenerative disorder is_a: MONDO:0005071 {source="Orphanet:3177", source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder is_a: MONDO:0020215 {source="Orphanet:3177"} ! syndromic corneal dystrophy @@ -193649,12 +193613,12 @@ synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopi synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572] synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320] xref: GARD:0003795 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:2572", source="ORDO:2572/attributed", source="ORDO:2572/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:2572", source="Orphanet:2572/attributed", source="Orphanet:2572/ntbt"} xref: MESH:C536989 {source="MONDO:equivalentTo"} -xref: OMIM:271320 {source="Orphanet:2572", source="MONDO:equivalentTo", source="ORDO:2572/e"} +xref: OMIM:271320 {source="Orphanet:2572", source="MONDO:equivalentTo", source="Orphanet:2572/e"} xref: Orphanet:2572 {source="MONDO:equivalentTo", source="OMIM:271320"} xref: SCTID:715465001 {source="MONDO:equivalentTo"} -xref: UMLS:C1849085 {source="Orphanet:2572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271320", source="ORDO:2572/e"} +xref: UMLS:C1849085 {source="Orphanet:2572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2572/e", source="OMIM:271320"} is_a: MONDO:0017847 {source="Orphanet:2572"} ! autosomal recessive spastic ataxia is_a: MONDO:0020215 {source="Orphanet:2572"} ! syndromic corneal dystrophy property_value: confidence "3.666666666666667" xsd:double @@ -193681,9 +193645,9 @@ synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical, OMIM:271400] synonym: "hyposplenia, isolated congenital" RELATED [OMIM:271400] synonym: "ICAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271400] synonym: "splenic hypoplasia" RELATED [OMIM:271400] -xref: ICD10CM:Q89.0 {source="ORDO:101351/attributed", source="ORDO:101351/ntbt", source="Orphanet:101351"} +xref: ICD10CM:Q89.0 {source="Orphanet:101351/attributed", source="Orphanet:101351/ntbt", source="Orphanet:101351"} xref: MESH:C563028 {source="MONDO:equivalentTo"} -xref: OMIM:271400 {source="MONDO:equivalentTo", source="Orphanet:101351", source="ORDO:101351/e"} +xref: OMIM:271400 {source="Orphanet:101351/e", source="MONDO:equivalentTo", source="Orphanet:101351"} xref: Orphanet:101351 {source="MONDO:equivalentTo", source="OMIM:271400"} xref: SCTID:726708009 {source="MONDO:equivalentTo"} xref: UMLS:C0685889 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:271400"} @@ -193724,12 +193688,12 @@ synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [Orphanet:93 synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [OMIM:271510] xref: DOID:5684 {source="MONDO:equivalentTo"} xref: GARD:0004970 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:93357/attributed", source="ORDO:93357/ntbt", source="Orphanet:93357"} +xref: ICD10CM:Q77.7 {source="Orphanet:93357", source="Orphanet:93357/attributed", source="Orphanet:93357/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535786 {source="MONDO:equivalentTo"} xref: NCIT:C129031 {source="MONDO:equivalentTo"} xref: NCIT:C92206 {source="DOID:5684"} -xref: OMIM:271510 {source="DOID:5684", source="ORDO:93357/e", source="MONDO:equivalentTo", source="Orphanet:93357"} +xref: OMIM:271510 {source="DOID:5684", source="MONDO:equivalentTo", source="Orphanet:93357", source="Orphanet:93357/e"} xref: Orphanet:93357 {source="MONDO:equivalentTo", source="OMIM:271510"} xref: SCTID:389161008 {source="MONDO:equivalentTo"} xref: UMLS:C0920349 {source="DOID:5684", source="MONDO:notFoundInDiseaseSubset"} @@ -193746,9 +193710,9 @@ synonym: "Casamassima-Morton-Nance syndrome" EXACT [OMIM:271520, Orphanet:94095] synonym: "CMn syndrome" RELATED [OMIM:271520] synonym: "spondylocostal dysostosis with anal atresia and urogenital anomalies" RELATED [OMIM:271520] synonym: "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" RELATED [Orphanet:94095] -xref: ICD10CM:Q87.8 {source="ORDO:94095/attributed", source="ORDO:94095/ntbt", source="Orphanet:94095"} +xref: ICD10CM:Q87.8 {source="Orphanet:94095/attributed", source="Orphanet:94095/ntbt", source="Orphanet:94095"} xref: MESH:C564799 {source="MONDO:equivalentTo"} -xref: OMIM:271520 {source="MONDO:equivalentTo", source="ORDO:94095/e", source="Orphanet:94095"} +xref: OMIM:271520 {source="Orphanet:94095/e", source="MONDO:equivalentTo", source="Orphanet:94095"} xref: Orphanet:94095 {source="MONDO:equivalentTo", source="OMIM:271520"} xref: UMLS:C1849069 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:94095", source="OMIM:271520"} is_a: MONDO:0000508 {source="Orphanet:94095"} ! syndromic intellectual disability @@ -193770,7 +193734,7 @@ xref: MESH:C537099 {source="MONDO:equivalentTo"} xref: OMIM:271530 {source="MONDO:equivalentTo"} xref: Orphanet:93301 {source="MONDO:equivalentTo", source="OMIM:271530"} xref: UMLS:C1849055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271530"} -is_a: MONDO:0018662 {source="ORDO:448242/btnt"} ! autosomal recessive brachyolmia +is_a: MONDO:0018662 {source="Orphanet:448242/btnt"} ! autosomal recessive brachyolmia property_value: confidence "39.49999999999994" xsd:double [Term] @@ -193791,7 +193755,7 @@ xref: MESH:C564797 {source="MONDO:equivalentTo"} xref: OMIM:271600 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="MONDO:subClassOf", source="OMIM:271600"} xref: UMLS:C1849054 {source="OMIM:271600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019667 {source="MONDO:Redundant", source="ORDO:93284/btnt"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0019667 {source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:271600"} ! spondyloepiphyseal dysplasia with congenital joint dislocations @@ -193806,9 +193770,9 @@ synonym: "Sedt with intellectual disability" RELATED [OMIM:271620] synonym: "Sedt with mental retardation" RELATED DEPRECATED [OMIM:271620] synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" RELATED [OMIM:271620] synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DEPRECATED [OMIM:271620] -xref: ICD10CM:Q77.7 {source="ORDO:163665/attributed", source="ORDO:163665/ntbt", source="Orphanet:163665"} +xref: ICD10CM:Q77.7 {source="Orphanet:163665", source="Orphanet:163665/attributed", source="Orphanet:163665/ntbt"} xref: MESH:C564796 {source="MONDO:equivalentTo"} -xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="ORDO:163665/e"} +xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="Orphanet:163665/e"} xref: Orphanet:163665 {source="MONDO:equivalentTo", source="OMIM:271620"} xref: SCTID:719202006 {source="MONDO:equivalentTo"} xref: UMLS:C1849053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163665", source="OMIM:271620"} @@ -193829,7 +193793,7 @@ xref: MESH:C535787 {source="MONDO:equivalentTo"} xref: OMIM:271630 {source="MONDO:equivalentTo"} xref: Orphanet:93303 {source="MONDO:equivalentTo", source="OMIM:271630"} xref: UMLS:C1849048 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271630"} -is_a: MONDO:0018662 {source="ORDO:448242/btnt"} ! autosomal recessive brachyolmia +is_a: MONDO:0018662 {source="Orphanet:448242/btnt"} ! autosomal recessive brachyolmia property_value: confidence "39.49999999999994" xsd:double [Term] @@ -193859,9 +193823,9 @@ subset: ordo_disease {source="Orphanet:93351"} synonym: "SEMD, Irapa type" EXACT [Orphanet:93351] synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271650] synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650] -xref: ICD10CM:Q77.7 {source="Orphanet:93351", source="ORDO:93351/attributed", source="ORDO:93351/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:93351", source="Orphanet:93351/attributed", source="Orphanet:93351/ntbt"} xref: MESH:C562958 {source="MONDO:equivalentTo"} -xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="ORDO:93351/e"} +xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="Orphanet:93351/e"} xref: Orphanet:93351 {source="MONDO:equivalentTo", source="OMIM:271650"} xref: SCTID:717330004 {source="MONDO:equivalentTo"} xref: UMLS:C0432213 {source="Orphanet:93351", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271650"} @@ -193887,9 +193851,9 @@ synonym: "spondylometaepiphyseal dysplasia short limb-hand type" RELATED [GARD:0 synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [OMIM:271665] synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [OMIM:271665] xref: GARD:0010616 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:93358/attributed", source="ORDO:93358/ntbt", source="Orphanet:93358"} +xref: ICD10CM:Q77.7 {source="Orphanet:93358", source="Orphanet:93358/attributed", source="Orphanet:93358/ntbt"} xref: MESH:C564794 {source="MONDO:equivalentTo"} -xref: OMIM:271665 {source="ORDO:93358/e", source="MONDO:equivalentTo", source="Orphanet:93358"} +xref: OMIM:271665 {source="MONDO:equivalentTo", source="Orphanet:93358", source="Orphanet:93358/e"} xref: Orphanet:93358 {source="OMIM:271665", source="MONDO:equivalentTo"} xref: UMLS:C1849011 {source="OMIM:271665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93358"} is_a: MONDO:0016761 {source="Orphanet:93358"} ! spondyloepiphyseal dysplasia @@ -193904,14 +193868,14 @@ subset: ordo_disease {source="Orphanet:1856"} synonym: "spondyloperipheral dysplasia" RELATED [OMIM:271700] synonym: "spondyloperipheral dysplasia with short ulna" RELATED [OMIM:271700] xref: GARD:0004994 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:1856/attributed", source="ORDO:1856/ntbt", source="Orphanet:1856"} +xref: ICD10CM:Q77.7 {source="Orphanet:1856/attributed", source="Orphanet:1856/ntbt", source="Orphanet:1856"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535799 {source="MONDO:equivalentTo", source="ORDO:1856/e", source="Orphanet:1856"} +xref: MESH:C535799 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"} xref: NCIT:C135088 {source="MONDO:equivalentTo"} -xref: OMIM:271700 {source="MONDO:equivalentTo", source="ORDO:1856/e", source="Orphanet:1856"} +xref: OMIM:271700 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"} xref: Orphanet:1856 {source="OMIM:271700", source="MONDO:equivalentTo"} xref: SCTID:702339001 {source="MONDO:equivalentTo"} -xref: UMLS:C0796173 {source="OMIM:271700", source="NCIT:C135088", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1856/e", source="Orphanet:1856"} +xref: UMLS:C0796173 {source="Orphanet:1856/e", source="OMIM:271700", source="NCIT:C135088", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1856"} is_a: MONDO:0016761 {source="Orphanet:1856"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:1856"} ! type 2 collagenopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2200 {source="mim2gene_medgen"} ! COL2A1 @@ -193939,14 +193903,14 @@ synonym: "spongy degeneration of the central nervous system" RELATED [GARD:00059 synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984] xref: DOID:3613 {source="MONDO:equivalentTo"} xref: GARD:0005984 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="ORDO:141/index", source="ORDO:141/ntbt", source="Orphanet:141"} -xref: MedDRA:10067608 {source="ORDO:141/e", source="Orphanet:141"} -xref: MESH:D017825 {source="MONDO:equivalentTo", source="ORDO:141/e", source="DOID:3613", source="Orphanet:141"} +xref: ICD10CM:E75.2 {source="Orphanet:141/ntbt", source="Orphanet:141", source="Orphanet:141/index"} +xref: MedDRA:10067608 {source="Orphanet:141/e", source="Orphanet:141"} +xref: MESH:D017825 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} xref: NCIT:C84611 {source="MONDO:equivalentTo", source="DOID:3613"} -xref: OMIM:271900 {source="MONDO:equivalentTo", source="ORDO:141/e", source="DOID:3613", source="Orphanet:141"} +xref: OMIM:271900 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} xref: Orphanet:141 {source="OMIM:271900", source="MONDO:equivalentTo"} xref: SCTID:80544005 {source="MONDO:equivalentTo", source="DOID:3613"} -xref: UMLS:C0206307 {source="NCIT:C84611", source="NCBI:mim2gene_medline", source="OMIM:271900", source="MONDO:equivalentTo", source="ORDO:141/e", source="DOID:3613", source="Orphanet:141"} +xref: UMLS:C0206307 {source="NCIT:C84611", source="Orphanet:141/e", source="NCBI:mim2gene_medline", source="OMIM:271900", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} xref: UMLS:C3542499 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141"} is_a: MONDO:0017686 {source="Orphanet:141"} ! inborn aminoacylase deficiency is_a: MONDO:0019046 {source="DOID:3613", source="NCIT:C84611", source="Orphanet:141"} ! leukodystrophy @@ -193975,9 +193939,9 @@ synonym: "SNDI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271930] synonym: "striatal degeneration, familial" RELATED [OMIM:271930] synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930] xref: GARD:0010665 {source="MONDO:equivalentTo"} -xref: ICD10CM:G23.2 {source="MONDO:subClassOf", source="Orphanet:225154", source="ORDO:225154/attributed", source="ORDO:225154/ntbt"} -xref: OMIM:271930 {source="MONDO:equivalentTo", source="Orphanet:225154", source="ORDO:225154/e"} -xref: OMIM:500003 {source="MONDO:superClassOf", source="Orphanet:225154", source="ORDO:225154/btnt"} +xref: ICD10CM:G23.2 {source="MONDO:subClassOf", source="Orphanet:225154/attributed", source="Orphanet:225154/ntbt", source="Orphanet:225154"} +xref: OMIM:271930 {source="Orphanet:225154/e", source="MONDO:equivalentTo", source="Orphanet:225154"} +xref: OMIM:500003 {source="MONDO:superClassOf", source="Orphanet:225154/btnt", source="Orphanet:225154"} xref: Orphanet:1576 {source="MONDO:subClassOf", source="OMIM:271930"} xref: Orphanet:225154 {source="OMIM:271930", source="MONDO:equivalentTo"} xref: UMLS:C0795996 {source="MONDO:subClassOf", source="OMIM:271930", source="NCBI:mim2gene_medline"} @@ -194001,7 +193965,7 @@ xref: Orphanet:3092 {source="MONDO:subClassOf", source="OMIM:271950"} xref: Orphanet:99051 {source="MONDO:subClassOf", source="OMIM:271950"} xref: UMLS:C1848979 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:271950"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0020392 {source="ORDO:99051/btnt"} ! discrete fixed membranous subaortic stenosis +is_a: MONDO:0020392 {source="Orphanet:99051/btnt"} ! discrete fixed membranous subaortic stenosis property_value: confidence "20.99999999999995" xsd:double [Term] @@ -194014,7 +193978,7 @@ synonym: "subaortic stenosis short stature syndrome" RELATED [GARD:0000405] synonym: "subaortic stenosis--short stature syndrome" RELATED [OMIM:271960] xref: GARD:0000405 {source="MONDO:equivalentTo"} xref: MESH:C537749 {source="MONDO:equivalentTo"} -xref: OMIM:271960 {source="MONDO:equivalentTo", source="ORDO:3191/e", source="Orphanet:3191"} +xref: OMIM:271960 {source="MONDO:equivalentTo", source="Orphanet:3191", source="Orphanet:3191/e"} xref: Orphanet:3191 {source="MONDO:equivalentTo", source="OMIM:271960"} xref: UMLS:C0795947 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3191", source="OMIM:271960"} is_a: MONDO:0020215 {source="Orphanet:3191"} ! syndromic corneal dystrophy @@ -194038,9 +194002,9 @@ synonym: "SSADHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271980] synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:271980] xref: DOID:0060175 {source="MONDO:equivalentTo"} xref: GARD:0007695 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="Orphanet:22", source="ORDO:22/attributed", source="ORDO:22/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:22/attributed", source="Orphanet:22/ntbt", source="Orphanet:22"} xref: MESH:C535803 {source="MONDO:equivalentTo"} -xref: OMIM:271980 {source="ORDO:22/e", source="Orphanet:22", source="MONDO:equivalentTo"} +xref: OMIM:271980 {source="Orphanet:22", source="MONDO:equivalentTo", source="Orphanet:22/e"} xref: Orphanet:22 {source="MONDO:equivalentTo", source="OMIM:271980"} xref: SCTID:49748000 {source="MONDO:equivalentTo"} xref: UMLS:C0268631 {source="Orphanet:22", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271980"} @@ -194069,9 +194033,9 @@ synonym: "Myelinoclastic diffuse sclerosis" EXACT [Orphanet:59298] synonym: "Schilder disease" EXACT [OMIM:272100] synonym: "Schilder's disease" EXACT [Orphanet:59298] synonym: "SUDANOPHILIC cerebral sclerosis" RELATED [OMIM:272100] -xref: ICD10CM:G37.0 {source="ORDO:59298/e", source="Orphanet:59298"} +xref: ICD10CM:G37.0 {source="Orphanet:59298", source="Orphanet:59298/e"} xref: ICD9:341.1 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:272100 {source="MONDO:equivalentTo", source="ORDO:59298/e", source="Orphanet:59298"} +xref: OMIM:272100 {source="MONDO:equivalentTo", source="Orphanet:59298", source="Orphanet:59298/e"} xref: Orphanet:59298 {source="MONDO:equivalentTo", source="OMIM:272100"} xref: SCTID:49692006 {source="MONDO:equivalentTo"} xref: UMLS:C0007795 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:59298", source="OMIM:272100"} @@ -194154,15 +194118,15 @@ synonym: "sulfatidosis juvenile, Austin type" RELATED [GARD:0005061] synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200] xref: DOID:0050441 {source="MONDO:equivalentTo"} xref: GARD:0005061 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="ORDO:585/attributed", source="ORDO:585/ntbt", source="Orphanet:585"} +xref: ICD10CM:E75.2 {source="Orphanet:585/attributed", source="Orphanet:585/ntbt", source="Orphanet:585"} xref: MESH:D052517 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: NCIT:C84908 {source="DOID:0050441", source="MONDO:equivalentTo"} -xref: OMIM:272200 {source="DOID:0050441", source="MONDO:equivalentTo", source="ORDO:585/e", source="Orphanet:585"} +xref: OMIM:272200 {source="DOID:0050441", source="Orphanet:585/e", source="MONDO:equivalentTo", source="Orphanet:585"} xref: Orphanet:585 {source="MONDO:equivalentTo", source="OMIM:272200"} xref: SCTID:254076009 {source="DOID:0050441"} xref: SCTID:54898003 {source="DOID:0050441", source="MONDO:equivalentTo"} -xref: UMLS:C0268263 {source="DOID:0050441", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84908", source="ORDO:585/e", source="OMIM:272200", source="Orphanet:585"} -xref: UMLS:C1720864 {source="DOID:0050441", source="MONDO:notFoundInDiseaseSubset", source="ORDO:585/e", source="OMIM:272200", source="Orphanet:585"} +xref: UMLS:C0268263 {source="DOID:0050441", source="NCBI:mim2gene_medline", source="Orphanet:585/e", source="MONDO:equivalentTo", source="NCIT:C84908", source="OMIM:272200", source="Orphanet:585"} +xref: UMLS:C1720864 {source="DOID:0050441", source="Orphanet:585/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:272200", source="Orphanet:585"} is_a: MONDO:0002561 {source="DOID:0050441/inferred", source="MESH:D052517/inferred", source="MONDO:Redundant", source="NCIT:C84908", source="Orphanet:585/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin @@ -194186,9 +194150,9 @@ synonym: "Sulfocysteinuria" EXACT [Orphanet:99731] synonym: "sulfocysteinuria" EXACT [OMIM:272300] xref: DOID:0111270 {source="MONDO:equivalentTo"} xref: GARD:0005062 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="Orphanet:99731", source="ORDO:99731/attributed", source="ORDO:99731/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:99731", source="Orphanet:99731/attributed", source="Orphanet:99731/ntbt"} xref: MESH:C538141 {source="MONDO:equivalentTo"} -xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="ORDO:99731/e"} +xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="Orphanet:99731/e"} xref: Orphanet:833 {source="MONDO:subClassOf", source="OMIM:272300"} xref: Orphanet:99731 {source="MONDO:equivalentTo", source="OMIM:272300"} xref: SCTID:367368009 {source="MONDO:equivalentTo"} @@ -194208,12 +194172,12 @@ synonym: "recessive acrocephalosyndactyly with normal intelligence" RELATED [GAR synonym: "Summitt syndrome" EXACT [OMIM:272350] synonym: "Summitt's acrocephalosyndactyly" RELATED [GARD:0000127] xref: GARD:0000127 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.0 {source="Orphanet:3210", source="MONDO:relatedTo", source="ORDO:3210/attributed", source="ORDO:3210/ntbt"} -xref: MESH:C538142 {source="Orphanet:3210", source="MONDO:equivalentTo", source="ORDO:3210/e"} -xref: OMIM:272350 {source="Orphanet:3210", source="MONDO:equivalentTo", source="ORDO:3210/e"} +xref: ICD10CM:Q82.0 {source="Orphanet:3210", source="MONDO:relatedTo", source="Orphanet:3210/attributed", source="Orphanet:3210/ntbt"} +xref: MESH:C538142 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"} +xref: OMIM:272350 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"} xref: Orphanet:3210 {source="MONDO:equivalentTo", source="OMIM:272350"} xref: SCTID:733606001 {source="MONDO:equivalentTo"} -xref: UMLS:C1802405 {source="Orphanet:3210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272350", source="ORDO:3210/e"} +xref: UMLS:C1802405 {source="Orphanet:3210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3210/e", source="OMIM:272350"} is_a: MONDO:0015338 {source="Orphanet:3210", source="Orphanet:3210/inferred"} ! syndromic craniosynostosis property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome xsd:anyURI {source="GARD:0000127"} @@ -194233,14 +194197,14 @@ synonym: "muscle contractions, Tetanoform, with characteristic face, camptodacty synonym: "Sohar-Crisponi syndrome" RELATED [OMIM:272430] xref: DOID:0080329 {source="MONDO:equivalentTo"} xref: GARD:0001611 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G90.8 {source="ORDO:1545/attributed", source="ORDO:1545/ntbt", source="Orphanet:1545"} -xref: MESH:C536214 {source="MONDO:equivalentTo", source="Orphanet:1545", source="ORDO:1545/e"} +xref: ICD10CM:G90.8 {source="Orphanet:1545", source="Orphanet:1545/attributed", source="Orphanet:1545/ntbt"} +xref: MESH:C536214 {source="MONDO:equivalentTo", source="Orphanet:1545", source="Orphanet:1545/e"} xref: OMIM:272430 {source="MONDO:equivalentTo"} -xref: OMIM:601378 {source="MONDO:equivalentObsolete", source="Orphanet:1545", source="ORDO:1545/e"} +xref: OMIM:601378 {source="MONDO:equivalentObsolete", source="Orphanet:1545", source="Orphanet:1545/e"} xref: Orphanet:1545 {source="MONDO:equivalentTo"} xref: Orphanet:157820 {source="MONDO:subClassOf", source="OMIM:272430"} xref: SCTID:725097006 {source="MONDO:equivalentTo"} -xref: UMLS:C1832409 {source="Orphanet:1545", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1545/e", source="OMIM:272430"} +xref: UMLS:C1832409 {source="Orphanet:1545", source="MONDO:notFoundInDiseaseSubset", source="OMIM:272430", source="Orphanet:1545/e"} xref: UMLS:C1848947 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015526 {source="DC-OMIM:272430", source="OMIM:272430"} ! cold-induced sweating syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2364 {source="mim2gene_medgen"} ! CRLF1 @@ -194265,12 +194229,12 @@ synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT synonym: "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly" RELATED [GARD:0000062] synonym: "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" RELATED DEPRECATED [GARD:0000062] xref: GARD:0000062 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3255", source="ORDO:3255/attributed", source="ORDO:3255/ntbt"} -xref: MESH:C538152 {source="Orphanet:3255", source="ORDO:3255/e", source="MONDO:equivalentTo"} -xref: OMIM:272440 {source="Orphanet:3255", source="ORDO:3255/e", source="MONDO:equivalentTo", source="GARD:0000062"} +xref: ICD10CM:Q87.8 {source="Orphanet:3255", source="Orphanet:3255/attributed", source="Orphanet:3255/ntbt"} +xref: MESH:C538152 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e"} +xref: OMIM:272440 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="GARD:0000062"} xref: Orphanet:3255 {source="MONDO:equivalentTo", source="OMIM:272440", source="GARD:0000062"} xref: SCTID:720954000 {source="MONDO:equivalentTo"} -xref: UMLS:C0795940 {source="Orphanet:3255", source="ORDO:3255/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272440", source="GARD:0000062"} +xref: UMLS:C0795940 {source="Orphanet:3255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="OMIM:272440", source="GARD:0000062"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3255", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:3255"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26877 {source="mim2gene_medgen"} ! CKAP2L @@ -194309,10 +194273,10 @@ synonym: "vertebral fusion with carpal coalition" EXACT [DOID:0090116, OMIM:2724 xref: DOID:0090116 {source="MONDO:equivalentTo"} xref: GARD:0004974 {source="MONDO:equivalentTo"} xref: GARD:4974 {source="DOID:0090116"} -xref: ICD10CM:Q76.4 {source="DOID:0090116", source="ORDO:3275/attributed", source="ORDO:3275/ntbt", source="Orphanet:3275"} +xref: ICD10CM:Q76.4 {source="Orphanet:3275/attributed", source="Orphanet:3275/ntbt", source="DOID:0090116", source="Orphanet:3275"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535780 {source="MONDO:equivalentTo"} -xref: OMIM:272460 {source="MONDO:equivalentTo", source="DOID:0090116", source="Orphanet:3275", source="ORDO:3275/e"} +xref: OMIM:272460 {source="Orphanet:3275/e", source="MONDO:equivalentTo", source="DOID:0090116", source="Orphanet:3275"} xref: Orphanet:3275 {source="MONDO:equivalentTo", source="OMIM:272460", source="DOID:0090116"} xref: SCTID:702351004 {source="MONDO:equivalentTo"} xref: UMLS:C1848934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272460", source="Orphanet:3275"} @@ -194329,7 +194293,7 @@ name: ataxia-tapetoretinal degeneration syndrome subset: ordo_disease {source="Orphanet:1178"} synonym: "tapetoretinal degeneration with ataxia" RELATED [OMIM:272600] xref: MESH:C564788 {source="MONDO:equivalentTo"} -xref: OMIM:272600 {source="Orphanet:1178", source="ORDO:1178/e", source="MONDO:equivalentTo"} +xref: OMIM:272600 {source="Orphanet:1178", source="MONDO:equivalentTo", source="Orphanet:1178/e"} xref: Orphanet:1178 {source="OMIM:272600", source="MONDO:equivalentTo"} xref: UMLS:C1848932 {source="OMIM:272600", source="Orphanet:1178", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0100309 {source="Orphanet:1178"} ! hereditary ataxia @@ -194368,12 +194332,12 @@ synonym: "taurodontism" EXACT [MONDO:ambiguous, OMIM:272700] synonym: "taurodontism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0005119 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0000679 {source="MONDO:otherHierarchy"} -xref: ICD10CM:K00.2 {source="Orphanet:3289", source="ORDO:3289/inclusion", source="ORDO:3289/ntbt"} -xref: MESH:C536946 {source="ORDO:3289/e", source="Orphanet:3289", source="MONDO:equivalentTo"} -xref: OMIM:272700 {source="ORDO:3289/e", source="Orphanet:3289", source="MONDO:equivalentTo"} +xref: ICD10CM:K00.2 {source="Orphanet:3289/ntbt", source="Orphanet:3289", source="Orphanet:3289/inclusion"} +xref: MESH:C536946 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"} +xref: OMIM:272700 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"} xref: Orphanet:3289 {source="OMIM:272700", source="MONDO:equivalentTo"} xref: SCTID:51744007 {source="MONDO:equivalentTo"} -xref: UMLS:C0266039 {source="OMIM:272700", source="ORDO:3289/e", source="Orphanet:3289", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C0266039 {source="OMIM:272700", source="Orphanet:3289", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3289/e"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder is_a: MONDO:0003847 {source="Orphanet:3289/inferred", source="linkedlifedata"} ! Mendelian disease property_value: confidence "8.375" xsd:double @@ -194392,10 +194356,10 @@ synonym: "hexosaminidase activator deficiency" EXACT [OMIM:272750, Orphanet:3092 synonym: "Tay-Sachs disease, AB variant" RELATED [OMIM:272750] synonym: "Tay-Sachs disease, variant AB" EXACT [DOID:4795] xref: DOID:4795 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="ORDO:309246/attributed", source="ORDO:309246/ntbt", source="Orphanet:309246"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309246/attributed", source="Orphanet:309246/ntbt", source="Orphanet:309246"} xref: MESH:D049290 {source="DOID:4795", source="MONDO:equivalentTo"} xref: NCIT:C133084 {source="MONDO:equivalentTo"} -xref: OMIM:272750 {source="DOID:4795", source="MONDO:equivalentTo", source="ORDO:309246/e", source="Orphanet:309246"} +xref: OMIM:272750 {source="Orphanet:309246/e", source="DOID:4795", source="MONDO:equivalentTo", source="Orphanet:309246"} xref: Orphanet:309246 {source="MONDO:equivalentTo", source="OMIM:272750"} xref: SCTID:71253000 {source="DOID:4795", source="MONDO:equivalentTo"} xref: UMLS:C0268275 {source="NCIT:C133084", source="DOID:4795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:309246", source="OMIM:272750"} @@ -194435,21 +194399,21 @@ synonym: "Tay-Sachs disease, variant B1" RELATED [OMIM:272800] synonym: "TSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272800] xref: DOID:3320 {source="MONDO:equivalentTo"} xref: GARD:0007737 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:845", source="ORDO:845/inclusion", source="ORDO:845/ntbt"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:845/ntbt", source="Orphanet:845/inclusion", source="Orphanet:845"} xref: ICD10CM:E75.02 {source="DOID:3320", source="MONDO:equivalentTo"} -xref: MedDRA:10043147 {source="ORDO:845/e", source="Orphanet:845"} -xref: MESH:D013661 {source="DOID:3320", source="ORDO:845/e", source="Orphanet:845", source="MONDO:equivalentTo"} +xref: MedDRA:10043147 {source="Orphanet:845", source="Orphanet:845/e"} +xref: MESH:D013661 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"} xref: NCIT:C85184 {source="DOID:3320", source="MONDO:equivalentTo"} -xref: OMIM:272800 {source="DOID:3320", source="ORDO:845/e", source="Orphanet:845", source="MONDO:equivalentTo"} +xref: OMIM:272800 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"} xref: Orphanet:845 {source="OMIM:272800", source="MONDO:equivalentTo"} xref: SCTID:111385000 {source="DOID:3320", source="MONDO:equivalentTo"} -xref: UMLS:C0039373 {source="DOID:3320", source="OMIM:272800", source="ORDO:845/e", source="Orphanet:845", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85184"} +xref: UMLS:C0039373 {source="DOID:3320", source="OMIM:272800", source="Orphanet:845", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85184", source="Orphanet:845/e"} xref: UMLS:C1848913 {source="OMIM:272800", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1848914 {source="OMIM:272800", source="MONDO:superClassOf"} xref: UMLS:C1848915 {source="OMIM:272800", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1848916 {source="OMIM:272800", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1848917 {source="OMIM:272800", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1848922 {source="ORDO:845/e", source="Orphanet:845", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1848922 {source="Orphanet:845", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:845/e"} xref: UMLS:C2749283 {source="OMIM:272800", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002561 {source="DOID:3320/inferred", source="MESH:D013661/inferred", source="Orphanet:845/inferred", source="PMID:21723623", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0005328 ! eye disorder @@ -194475,10 +194439,10 @@ synonym: "TBSH" RELATED ABBREVIATION [OMIM:272950] synonym: "Teebi Shaltout syndrome" RELATED [GARD:0005125] synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950] xref: GARD:0005125 {source="MONDO:equivalentTo"} -xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e"} -xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e"} +xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} +xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} xref: Orphanet:3291 {source="MONDO:equivalentTo", source="OMIM:272950"} -xref: UMLS:C1848912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e", source="OMIM:272950"} +xref: UMLS:C1848912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e", source="OMIM:272950"} is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019287 {source="Orphanet:3291"} ! ectodermal dysplasia syndrome property_value: confidence "8.375" xsd:double @@ -194494,10 +194458,10 @@ synonym: "taurodontia, absent teeth, and sparse hair" RELATED [OMIM:272980] synonym: "taurodontia, absent teeth, sparse hair syndrome" RELATED [GARD:0005118] synonym: "teeth, congenital absence of, with taurodontia and sparse hair" RELATED [OMIM:272980] xref: GARD:0005118 {source="MONDO:equivalentTo"} -xref: MESH:C536945 {source="Orphanet:2731", source="ORDO:2731/e", source="MONDO:equivalentTo"} -xref: OMIM:272980 {source="Orphanet:2731", source="ORDO:2731/e", source="MONDO:equivalentTo"} +xref: MESH:C536945 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"} +xref: OMIM:272980 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"} xref: Orphanet:2731 {source="MONDO:equivalentObsolete", source="OMIM:272980"} -xref: UMLS:C1848909 {source="Orphanet:2731", source="NCBI:mim2gene_medline", source="ORDO:2731/e", source="MONDO:equivalentTo", source="OMIM:272980"} +xref: UMLS:C1848909 {source="Orphanet:2731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:272980", source="Orphanet:2731/e"} is_a: MONDO:0019287 {source="MESH:C536945", source="Orphanet:2731"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome xsd:anyURI {source="GARD:0005118"} @@ -194526,13 +194490,13 @@ synonym: "teeth noneruption of with maxillary hypoplasia and genu valgum" RELATE synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [OMIM:273050] xref: GARD:0005027 {source="MONDO:equivalentTo"} xref: GARD:0005127 {source="MONDO:equivalentTo"} -xref: MESH:C536952 {source="ORDO:2972/e", source="Orphanet:2972"} -xref: MESH:C537496 {source="ORDO:2972/e", source="Orphanet:2972"} -xref: OMIM:273050 {source="GARD:0005027", source="ORDO:2972/e", source="GARD:0005127", source="Orphanet:2972", source="MONDO:equivalentTo"} +xref: MESH:C536952 {source="Orphanet:2972", source="Orphanet:2972/e"} +xref: MESH:C537496 {source="Orphanet:2972", source="Orphanet:2972/e"} +xref: OMIM:273050 {source="GARD:0005027", source="GARD:0005127", source="Orphanet:2972", source="MONDO:equivalentTo", source="Orphanet:2972/e"} xref: Orphanet:2972 {source="OMIM:273050", source="MONDO:equivalentTo"} xref: SCTID:723442008 {source="MONDO:equivalentTo"} -xref: UMLS:C1848903 {source="ORDO:2972/e", source="GARD:0005127", source="NCBI:mim2gene_medline", source="OMIM:273050", source="Orphanet:2972", source="MONDO:equivalentTo"} -xref: UMLS:C2931509 {source="GARD:0005027", source="ORDO:2972/e", source="Orphanet:2972", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1848903 {source="GARD:0005127", source="NCBI:mim2gene_medline", source="OMIM:273050", source="Orphanet:2972", source="MONDO:equivalentTo", source="Orphanet:2972/e"} +xref: UMLS:C2931509 {source="GARD:0005027", source="Orphanet:2972", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2972/e"} is_a: MONDO:0021147 {source="Orphanet:2972", source="Orphanet:2972/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare property_value: confidence "8.6" xsd:double @@ -194593,11 +194557,11 @@ synonym: "TGCT" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C8591, OMIM:273300] xref: DOID:5557 {source="MONDO:equivalentTo"} xref: EFO:1000566 {source="MONDO:equivalentTo"} xref: GARD:0013047 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C62.1 {source="ORDO:363504/ntbt", source="Orphanet:363504"} +xref: ICD10CM:C62.1 {source="Orphanet:363504", source="Orphanet:363504/ntbt"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563236 {source="DOID:5557", source="MONDO:equivalentTo"} xref: NCIT:C8591 {source="DesignPattern", source="DOID:5557", source="MONDO:equivalentTo"} -xref: OMIM:273300 {source="DOID:5557", source="MONDO:equivalentTo", source="EFO:1000566", source="Orphanet:363504", source="ORDO:363504/e"} +xref: OMIM:273300 {source="Orphanet:363504/e", source="DOID:5557", source="MONDO:equivalentTo", source="EFO:1000566", source="Orphanet:363504"} xref: OMIM:300228 {source="DOID:5557", source="MONDO:superClassOf"} xref: Orphanet:363483 {source="MONDO:superClassOf", source="OMIM:273300"} xref: Orphanet:363494 {source="MONDO:superClassOf", source="OMIM:273300"} @@ -194654,14 +194618,14 @@ synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical, OMI synonym: "Zimmer phocomelia" EXACT [Orphanet:3301] synonym: "Zimmer Taub Sova syndrome" RELATED [GARD:0000386] xref: GARD:0000386 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3301", source="ORDO:3301/attributed", source="ORDO:3301/ntbt"} -xref: MESH:C536500 {source="Orphanet:3301", source="ORDO:3301/e", source="MONDO:equivalentTo"} -xref: OMIM:273395 {source="Orphanet:3301", source="ORDO:3301/e", source="MONDO:superClassOf"} +xref: ICD10CM:Q87.8 {source="Orphanet:3301", source="Orphanet:3301/attributed", source="Orphanet:3301/ntbt"} +xref: MESH:C536500 {source="Orphanet:3301", source="MONDO:equivalentTo", source="Orphanet:3301/e"} +xref: OMIM:273395 {source="Orphanet:3301", source="MONDO:superClassOf", source="Orphanet:3301/e"} xref: Orphanet:3301 {source="MONDO:equivalentTo", source="OMIM:273395"} xref: SCTID:716249009 {source="MONDO:equivalentTo"} xref: UMLS:C2749279 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931216 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:273395"} -xref: UMLS:C2931218 {source="Orphanet:3301", source="ORDO:3301/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931218 {source="Orphanet:3301", source="MONDO:equivalentTo", source="Orphanet:3301/e"} is_a: MONDO:0015161 {source="Orphanet:3301", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -194682,7 +194646,7 @@ synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [OMIM:273400] xref: GARD:0002381 {source="MONDO:equivalentTo"} xref: MESH:C535637 {source="MONDO:equivalentTo"} -xref: OMIM:273400 {source="MONDO:equivalentTo", source="ORDO:2723/e", source="Orphanet:2723"} +xref: OMIM:273400 {source="MONDO:equivalentTo", source="Orphanet:2723", source="Orphanet:2723/e"} xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"} xref: SCTID:239028001 {source="MONDO:equivalentTo"} xref: UMLS:C0406723 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:273400"} @@ -194744,9 +194708,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1861"} synonym: "thoracic dysplasia hydrocephalus syndrome" RELATED [GARD:0005180] synonym: "thoracic dysplasia-hydrocephalus syndrome" EXACT [OMIM:273730] xref: GARD:0005180 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1861", source="ORDO:1861/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1861/ntbt", source="Orphanet:1861"} xref: MESH:C564774 {source="MONDO:equivalentTo"} -xref: OMIM:273730 {source="ORDO:1861/e", source="Orphanet:1861", source="MONDO:equivalentTo"} +xref: OMIM:273730 {source="Orphanet:1861", source="MONDO:equivalentTo", source="Orphanet:1861/e"} xref: Orphanet:1861 {source="MONDO:equivalentTo", source="OMIM:273730"} xref: UMLS:C1848864 {source="NCBI:mim2gene_medline", source="Orphanet:1861", source="MONDO:equivalentTo", source="OMIM:273730"} is_a: MONDO:0015929 {source="Orphanet:1861"} ! thoracic malformation @@ -194763,12 +194727,12 @@ synonym: "thoraco-limb dysplasia" RELATED [GARD:0010612] synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803] synonym: "thoracomelic dysplasia" EXACT [OMIM:273740] xref: GARD:0010612 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.2 {source="ORDO:1803/attributed", source="ORDO:1803/ntbt", source="Orphanet:1803"} +xref: ICD10CM:Q77.2 {source="Orphanet:1803/attributed", source="Orphanet:1803/ntbt", source="Orphanet:1803"} xref: MESH:C564773 {source="MONDO:equivalentTo"} -xref: OMIM:273740 {source="MONDO:equivalentTo", source="ORDO:1803/e", source="Orphanet:1803"} +xref: OMIM:273740 {source="Orphanet:1803/e", source="MONDO:equivalentTo", source="Orphanet:1803"} xref: Orphanet:1803 {source="MONDO:equivalentTo", source="OMIM:273740"} xref: UMLS:C1848863 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273740", source="Orphanet:1803"} -xref: UMLS:C2931227 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1803/e", source="Orphanet:1803"} +xref: UMLS:C2931227 {source="Orphanet:1803/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1803"} is_a: MONDO:0005087 {source="MONDO:Entailed"} ! respiratory system disorder is_a: MONDO:0015929 {source="Orphanet:1803"} ! thoracic malformation is_a: MONDO:0019691 {source="Orphanet:1803"} ! short rib dysplasia @@ -194834,7 +194798,7 @@ xref: OMIM:273900 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="MONDO:subClassOf", source="OMIM:273900"} xref: Orphanet:268322 {source="MONDO:subClassOf", source="OMIM:273900"} xref: UMLS:C2678311 {source="OMIM:273900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015679 {source="ORDO:168629/btnt"} ! autosomal thrombocytopenia with normal platelets +is_a: MONDO:0015679 {source="Orphanet:168629/btnt"} ! autosomal thrombocytopenia with normal platelets is_a: MONDO:0100241 {source="DC-OMIM:273900", source="MESH:C567487", source="MONDO:Redundant", source="indirect"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4036 ! FYB1 @@ -194859,15 +194823,15 @@ synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [DOID:14699] synonym: "thrombocytopenia-absent radius syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:274000] xref: DOID:14699 {source="MONDO:equivalentTo"} xref: GARD:0005116 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:3320", source="ORDO:3320/inclusion", source="ORDO:3320/ntbt", source="DOID:14699"} +xref: ICD10CM:Q87.2 {source="Orphanet:3320", source="Orphanet:3320/ntbt", source="Orphanet:3320/inclusion", source="DOID:14699"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071719 {source="Orphanet:3320", source="ORDO:3320/e"} +xref: MedDRA:10071719 {source="Orphanet:3320", source="Orphanet:3320/e"} xref: MESH:C536940 {source="MONDO:equivalentTo", source="DOID:14699"} xref: NCIT:C99038 {source="MONDO:equivalentTo", source="DOID:14699"} -xref: OMIM:274000 {source="Orphanet:3320", source="MONDO:equivalentTo", source="ORDO:3320/e", source="DOID:14699"} +xref: OMIM:274000 {source="Orphanet:3320", source="MONDO:equivalentTo", source="Orphanet:3320/e", source="DOID:14699"} xref: Orphanet:3320 {source="MONDO:equivalentTo", source="OMIM:274000"} xref: SCTID:85589009 {source="MONDO:equivalentTo", source="DOID:14699"} -xref: UMLS:C0175703 {source="Orphanet:3320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274000", source="NCIT:C99038", source="ORDO:3320/e", source="DOID:14699"} +xref: UMLS:C0175703 {source="Orphanet:3320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3320/e", source="OMIM:274000", source="NCIT:C99038", source="DOID:14699"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99038", source="indirect"} ! syndromic disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -194901,10 +194865,10 @@ synonym: "Upshaw Factor, deficiency of" RELATED [OMIM:274150] synonym: "Upshaw-Schulman syndrome" EXACT [OMIM:274150, Orphanet:93583] synonym: "USS" RELATED ABBREVIATION [GARD:0009430] xref: GARD:0009430 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M31.3 {source="MONDO:relatedTo", source="Orphanet:93583", source="ORDO:93583/attributed", source="ORDO:93583/ntbt"} +xref: ICD10CM:M31.3 {source="Orphanet:93583/attributed", source="Orphanet:93583/ntbt", source="MONDO:relatedTo", source="Orphanet:93583"} xref: ICD9:287.33 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C131657 {source="MONDO:equivalentTo"} -xref: OMIM:274150 {source="Orphanet:93583", source="MONDO:equivalentTo", source="ORDO:93583/e"} +xref: OMIM:274150 {source="Orphanet:93583", source="MONDO:equivalentTo", source="Orphanet:93583/e"} xref: Orphanet:54057 {source="MONDO:subClassOf", source="OMIM:274150"} xref: Orphanet:93583 {source="OMIM:274150", source="MONDO:equivalentTo"} xref: SCTID:373420004 {source="MONDO:equivalentTo"} @@ -194928,9 +194892,9 @@ name: absent thumb-short stature-immunodeficiency syndrome def: "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951] subset: ordo_malformation_syndrome {source="Orphanet:2951"} synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190] -xref: ICD10CM:D82.8 {source="Orphanet:2951", source="ORDO:2951/attributed", source="ORDO:2951/ntbt"} +xref: ICD10CM:D82.8 {source="Orphanet:2951/attributed", source="Orphanet:2951/ntbt", source="Orphanet:2951"} xref: MESH:C564770 {source="MONDO:equivalentTo"} -xref: OMIM:274190 {source="Orphanet:2951", source="ORDO:2951/e", source="MONDO:equivalentTo"} +xref: OMIM:274190 {source="Orphanet:2951", source="MONDO:equivalentTo", source="Orphanet:2951/e"} xref: Orphanet:2951 {source="OMIM:274190", source="MONDO:equivalentTo"} xref: UMLS:C1848818 {source="OMIM:274190", source="Orphanet:2951", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015823 {source="Orphanet:2951"} ! primary immunodeficiency due to a defect in adaptive immunity @@ -194950,9 +194914,9 @@ name: upper limb defect-eye and ear abnormalities syndrome def: "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." [Orphanet:2489] subset: ordo_malformation_syndrome {source="Orphanet:2489"} synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [OMIM:274205] -xref: ICD10CM:Q87.8 {source="Orphanet:2489", source="ORDO:2489/attributed", source="ORDO:2489/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2489/attributed", source="Orphanet:2489/ntbt", source="Orphanet:2489"} xref: MESH:C564769 {source="MONDO:equivalentTo"} -xref: OMIM:274205 {source="Orphanet:2489", source="ORDO:2489/e", source="MONDO:equivalentTo"} +xref: OMIM:274205 {source="Orphanet:2489", source="MONDO:equivalentTo", source="Orphanet:2489/e"} xref: Orphanet:2489 {source="MONDO:equivalentTo", source="OMIM:274205"} xref: UMLS:C1848816 {source="Orphanet:2489", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274205"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2489", source="indirect"} ! syndromic intellectual disability @@ -194980,7 +194944,7 @@ xref: MESH:C564767 {source="MONDO:equivalentTo"} xref: OMIM:274230 {source="MONDO:equivalentTo"} xref: Orphanet:99867 {source="MONDO:subClassOf", source="OMIM:274230"} xref: UMLS:C1848814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274230"} -is_a: MONDO:0006456 {source="MONDO:Redundant", source="ORDO:99867/btnt"} ! thymoma +is_a: MONDO:0006456 {source="MONDO:Redundant", source="Orphanet:99867/btnt"} ! thymoma intersection_of: MONDO:0006456 ! thymoma intersection_of: has_modifier MONDO:0021152 ! inherited @@ -194994,7 +194958,7 @@ synonym: "Thyrocerebral-retinal syndrome" RELATED [GARD:0005203] synonym: "THYROCEREBRORETINAL syndrome" RELATED [OMIM:274240] xref: GARD:0005203 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536908 {source="MONDO:equivalentTo"} -xref: OMIM:274240 {source="MONDO:equivalentTo", source="Orphanet:3327", source="ORDO:3327/e"} +xref: OMIM:274240 {source="MONDO:equivalentTo", source="Orphanet:3327", source="Orphanet:3327/e"} xref: Orphanet:3327 {source="MONDO:equivalentTo", source="OMIM:274240"} xref: SCTID:733096007 {source="MONDO:equivalentTo"} xref: UMLS:C1848813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3327", source="OMIM:274240"} @@ -195011,12 +194975,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3326"} synonym: "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" RELATED [GARD:0005202] synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265] xref: GARD:0005202 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3326/attributed", source="ORDO:3326/ntbt", source="Orphanet:3326"} -xref: MESH:C536907 {source="ORDO:3326/e", source="MONDO:equivalentTo", source="Orphanet:3326"} -xref: OMIM:274265 {source="ORDO:3326/e", source="MONDO:equivalentTo", source="Orphanet:3326"} +xref: ICD10CM:Q87.8 {source="Orphanet:3326", source="Orphanet:3326/attributed", source="Orphanet:3326/ntbt"} +xref: MESH:C536907 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"} +xref: OMIM:274265 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"} xref: Orphanet:3326 {source="MONDO:equivalentTo", source="OMIM:274265"} xref: SCTID:723555007 {source="MONDO:equivalentTo"} -xref: UMLS:C1848812 {source="ORDO:3326/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3326", source="OMIM:274265"} +xref: UMLS:C1848812 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3326", source="OMIM:274265", source="Orphanet:3326/e"} is_a: MONDO:0015161 {source="Orphanet:3326", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019721 {source="Orphanet:3326"} ! syndromic renal or urinary tract malformation is_a: MONDO:0043008 {source="Orphanet:3326"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -195043,18 +195007,18 @@ synonym: "thymine-uracilurea" EXACT [DOID:14218] synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270] xref: DOID:14218 {source="MONDO:equivalentTo"} xref: GARD:0000019 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.8 {source="Orphanet:1675", source="ORDO:1675/attributed", source="ORDO:1675/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:1675/attributed", source="Orphanet:1675/ntbt", source="Orphanet:1675"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10052622 {source="Orphanet:1675", source="ORDO:1675/e"} -xref: MESH:D054067 {source="DOID:14218", source="Orphanet:1675", source="ORDO:1675/e", source="MONDO:equivalentTo"} +xref: MedDRA:10052622 {source="Orphanet:1675", source="Orphanet:1675/e"} +xref: MESH:D054067 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"} xref: NCIT:C3964 {source="DOID:14218"} xref: NCIT:C84672 {source="DOID:14218", source="MONDO:equivalentTo"} -xref: OMIM:274270 {source="DOID:14218", source="Orphanet:1675", source="ORDO:1675/e", source="MONDO:equivalentTo"} +xref: OMIM:274270 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"} xref: Orphanet:1675 {source="OMIM:274270", source="MONDO:equivalentTo"} xref: SCTID:238016000 {source="DOID:14218"} xref: SCTID:77365006 {source="DOID:14218", source="MONDO:equivalentTo"} xref: UMLS:C0274576 {source="OMIM:274270", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1959620 {source="DOID:14218", source="OMIM:274270", source="Orphanet:1675", source="ORDO:1675/e", source="MONDO:equivalentTo", source="NCIT:C84672"} +xref: UMLS:C1959620 {source="DOID:14218", source="OMIM:274270", source="Orphanet:1675", source="MONDO:equivalentTo", source="NCIT:C84672", source="Orphanet:1675/e"} xref: UMLS:C2720286 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3495551 {source="DOID:14218", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018381 {source="MONDO:Redundant", source="Orphanet:1675"} ! osteochondrosis @@ -195089,7 +195053,7 @@ xref: UMLS:C0242604 {source="GARD:0000301", source="MONDO:notFoundInDiseaseSubse xref: UMLS:C2940786 {source="NCIT:C85191", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3489796 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:274300"} is_a: MONDO:0001328 {source="DC-OMIM:274300", source="MONDO:Redundant", source="indirect"} ! thyroid hormone resistance syndrome -is_a: MONDO:0009043 {source="ORDO:3221/btnt"} ! generalized resistance to thyroid hormone +is_a: MONDO:0009043 {source="Orphanet:3221/btnt"} ! generalized resistance to thyroid hormone is_a: MONDO:0034217 ! resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11799 {source="mim2gene_medgen"} ! THRB relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:3221-moved-down"} ! syndromic genetic hearing loss @@ -195104,16 +195068,16 @@ subset: ordo_disease {source="Orphanet:95716"} synonym: "dyshormonogenesis" BROAD [NCIT:C121751] synonym: "nongoitrous hyperthyrotropinemia" EXACT [https://orcid.org/0000-0001-7451-4467, https://orcid.org/0000-0002-0736-9199] synonym: "thyroid dyshormonogenesis" EXACT [Orphanet:95716] -xref: ICD10CM:E03.0 {source="ORDO:95716/attributed", source="ORDO:95716/ntbt", source="Orphanet:95716"} -xref: ICD10CM:E03.1 {source="ORDO:95716/attributed", source="ORDO:95716/ntbt", source="Orphanet:95716"} +xref: ICD10CM:E03.0 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"} +xref: ICD10CM:E03.1 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"} xref: MESH:C564766 {source="MONDO:equivalentTo"} xref: NCIT:C121751 {source="MONDO:equivalentTo"} -xref: OMIM:274400 {source="MONDO:superClassOf", source="ORDO:95716/e", source="Orphanet:95716"} -xref: OMIM:274500 {source="ORDO:95716/btnt", source="MONDO:superClassOf", source="Orphanet:95716"} -xref: OMIM:274700 {source="ORDO:95716/btnt", source="MONDO:superClassOf", source="Orphanet:95716"} -xref: OMIM:274800 {source="ORDO:95716/btnt", source="MONDO:superClassOf", source="Orphanet:95716"} -xref: OMIM:274900 {source="ORDO:95716/btnt", source="MONDO:superClassOf", source="Orphanet:95716"} -xref: OMIM:607200 {source="ORDO:95716/btnt", source="MONDO:superClassOf", source="Orphanet:95716"} +xref: OMIM:274400 {source="Orphanet:95716/e", source="MONDO:superClassOf", source="Orphanet:95716"} +xref: OMIM:274500 {source="MONDO:superClassOf", source="Orphanet:95716/btnt", source="Orphanet:95716"} +xref: OMIM:274700 {source="MONDO:superClassOf", source="Orphanet:95716/btnt", source="Orphanet:95716"} +xref: OMIM:274800 {source="MONDO:superClassOf", source="Orphanet:95716/btnt", source="Orphanet:95716"} +xref: OMIM:274900 {source="MONDO:superClassOf", source="Orphanet:95716/btnt", source="Orphanet:95716"} +xref: OMIM:607200 {source="MONDO:superClassOf", source="Orphanet:95716/btnt", source="Orphanet:95716"} xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"} xref: SCTID:718183003 {source="MONDO:equivalentTo"} xref: UMLS:C1848805 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274400"} @@ -195143,7 +195107,7 @@ xref: OMIM:274500 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:subClassOf", source="OMIM:274500"} xref: SCTID:124204003 {source="MONDO:equivalentTo"} xref: UMLS:C1291299 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274500"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis is_a: MONDO:0018612 {source="MESH:C563206", source="NCIT:C121750", source="indirect"} ! congenital hypothyroidism intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12015 ! TPO @@ -195169,13 +195133,13 @@ synonym: "thyroid dyshormonogenesis 2B" EXACT [DOID:0060744, OMIM:274600] synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600] xref: DOID:0060744 {source="MONDO:equivalentTo"} xref: GARD:0004271 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E07.1 {source="ORDO:705/ntbt", source="DOID:0060744", source="Orphanet:705", source="ORDO:705/inclusion"} -xref: MESH:C536648 {source="ORDO:705/e", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705"} +xref: ICD10CM:E07.1 {source="Orphanet:705/inclusion", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/ntbt"} +xref: MESH:C536648 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"} xref: NCIT:C121745 {source="MONDO:equivalentTo"} -xref: OMIM:274600 {source="ORDO:705/e", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705"} +xref: OMIM:274600 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"} xref: Orphanet:705 {source="MONDO:equivalentTo", source="DOID:0060744", source="OMIM:274600"} xref: SCTID:70348004 {source="MONDO:equivalentTo"} -xref: UMLS:C0271829 {source="NCIT:C121745", source="ORDO:705/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="OMIM:274600"} +xref: UMLS:C0271829 {source="NCIT:C121745", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="OMIM:274600", source="Orphanet:705/e"} is_a: MONDO:0006025 {source="DOID:0060744", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015778 {source="MONDO:Redundant", source="Orphanet:705"} ! syndromic hypothyroidism is_a: MONDO:0018612 {source="MONDO:Redundant", source="NCIT:C121745", source="Orphanet:705/inferred"} ! congenital hypothyroidism @@ -195199,7 +195163,7 @@ xref: OMIM:274700 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:subClassOf", source="OMIM:274700"} xref: SCTID:23536000 {source="MONDO:equivalentTo"} xref: UMLS:C0342194 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274700"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11764 ! TG relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11764 {source="mim2gene_medgen"} ! TG @@ -195223,7 +195187,7 @@ xref: OMIM:274800 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:subClassOf", source="OMIM:274800"} xref: SCTID:17885001 {source="MONDO:equivalentTo"} xref: UMLS:C0342195 {source="OMIM:274800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21071 ! IYD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21071 {source="mim2gene_medgen"} ! IYD @@ -195245,7 +195209,7 @@ xref: OMIM:274900 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:subClassOf", source="OMIM:274900"} xref: SCTID:63127008 {source="MONDO:equivalentTo"} xref: UMLS:C0342196 {source="OMIM:274900", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/32698 ! DUOXA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/32698 {source="mim2gene_medgen"} ! DUOXA2 @@ -195305,8 +195269,8 @@ synonym: "thyrotropin, biologically inactive" RELATED [OMIM:275100] synonym: "TSH deficiency" RELATED [OMIM:275100] xref: DOID:0070123 {source="MONDO:equivalentTo"} xref: GARD:0010129 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E03.1 {source="DOID:0070123", source="ORDO:90674/attributed", source="ORDO:90674/ntbt", source="Orphanet:90674"} -xref: OMIM:275100 {source="ORDO:90674/e", source="DOID:0070123", source="MONDO:equivalentTo", source="Orphanet:90674"} +xref: ICD10CM:E03.1 {source="DOID:0070123", source="Orphanet:90674", source="Orphanet:90674/attributed", source="Orphanet:90674/ntbt"} +xref: OMIM:275100 {source="DOID:0070123", source="MONDO:equivalentTo", source="Orphanet:90674", source="Orphanet:90674/e"} xref: Orphanet:90674 {source="MONDO:equivalentTo", source="OMIM:275100"} xref: UMLS:C0271789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275100"} xref: UMLS:C1848794 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:275100"} @@ -195335,10 +195299,10 @@ synonym: "isolated TSH-releasing factor deficiency" EXACT [Orphanet:238670] synonym: "tertiary hypothyroidism" EXACT [NCIT:C121741] synonym: "thyrotropin-releasing hormone deficiency" RELATED [OMIM:275120] synonym: "TRH deficiency" RELATED [OMIM:275120] -xref: ICD10CM:E03.1 {source="ORDO:238670/attributed", source="ORDO:238670/ntbt", source="Orphanet:238670"} +xref: ICD10CM:E03.1 {source="Orphanet:238670/attributed", source="Orphanet:238670/ntbt", source="Orphanet:238670"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C121741 {source="MONDO:equivalentTo"} -xref: OMIM:275120 {source="MONDO:equivalentTo", source="ORDO:238670/e", source="Orphanet:238670"} +xref: OMIM:275120 {source="Orphanet:238670/e", source="MONDO:equivalentTo", source="Orphanet:238670"} xref: Orphanet:238670 {source="MONDO:equivalentTo", source="OMIM:275120"} xref: SCTID:10736002 {source="MONDO:equivalentTo"} xref: UMLS:C0220998 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C121741"} @@ -195379,8 +195343,8 @@ synonym: "thyroid-stimulating hormone, resistance to" RELATED [OMIM:275200] synonym: "thyrotropin resistance" RELATED [OMIM:275200] synonym: "TSH resistance" EXACT [DOID:0070126] xref: DOID:0070126 {source="MONDO:equivalentTo"} -xref: ICD10CM:E03.1 {source="DOID:0070126", source="ORDO:90673/attributed", source="ORDO:90673/ntbt", source="Orphanet:90673"} -xref: OMIM:275200 {source="ORDO:90673/e", source="DOID:0070126", source="MONDO:equivalentTo", source="Orphanet:90673"} +xref: ICD10CM:E03.1 {source="DOID:0070126", source="Orphanet:90673", source="Orphanet:90673/attributed", source="Orphanet:90673/ntbt"} +xref: OMIM:275200 {source="DOID:0070126", source="MONDO:equivalentTo", source="Orphanet:90673", source="Orphanet:90673/e"} xref: Orphanet:90673 {source="MONDO:equivalentTo", source="OMIM:275200"} xref: UMLS:C3493776 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275200"} xref: UMLS:CN206435 {source="MONDO:equivalentTo"} @@ -195406,12 +195370,12 @@ synonym: "tight skin contracture syndrome" EXACT [DOID:0060762, Orphanet:1662] synonym: "tight skin contracture syndrome, lethal" RELATED [OMIM:275210] xref: DOID:0060762 {source="MONDO:equivalentTo"} xref: GARD:0001516 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:1662", source="DOID:0060762", source="ORDO:1662/attributed", source="ORDO:1662/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:1662", source="Orphanet:1662/attributed", source="Orphanet:1662/ntbt", source="DOID:0060762"} xref: MESH:C536920 {source="MONDO:equivalentTo"} -xref: OMIM:275210 {source="Orphanet:1662", source="ORDO:1662/e", source="DOID:0060762", source="MONDO:equivalentTo"} +xref: OMIM:275210 {source="Orphanet:1662", source="DOID:0060762", source="MONDO:equivalentTo", source="Orphanet:1662/e"} xref: Orphanet:1662 {source="DOID:0060762", source="MONDO:equivalentTo", source="OMIM:275210"} xref: SCTID:400128006 {source="MONDO:equivalentTo"} -xref: UMLS:C0406585 {source="Orphanet:1662", source="ORDO:1662/e", source="DOID:0060762", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275210"} +xref: UMLS:C0406585 {source="Orphanet:1662", source="DOID:0060762", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1662/e", source="OMIM:275210"} is_a: MONDO:0015160 {source="Orphanet:1662", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1662"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -195432,9 +195396,9 @@ synonym: "tibia, absence of" RELATED [OMIM:275220] synonym: "tibial hemimelia" EXACT [OMIM:275220] synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322] xref: GARD:0008707 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q72.5 {source="ORDO:93322/specific", source="ORDO:93322/e", source="Orphanet:93322"} +xref: ICD10CM:Q72.5 {source="Orphanet:93322", source="Orphanet:93322/e", source="Orphanet:93322/specific"} xref: MESH:C535563 {source="MONDO:equivalentTo"} -xref: OMIM:275220 {source="ORDO:93322/e", source="Orphanet:93322", source="MONDO:equivalentTo"} +xref: OMIM:275220 {source="Orphanet:93322", source="MONDO:equivalentTo", source="Orphanet:93322/e"} xref: Orphanet:93322 {source="MONDO:equivalentTo", source="OMIM:275220"} xref: SCTID:79177001 {source="MONDO:equivalentTo"} xref: UMLS:C0265633 {source="Orphanet:93322", source="NCBI:mim2gene_medline", source="OMIM:275220", source="MONDO:notFoundInDiseaseSubset"} @@ -195465,12 +195429,12 @@ synonym: "trichophytia profunda barbae" RELATED [GARD:0003109] synonym: "trichophytia profunda capitis" RELATED [GARD:0003109] synonym: "Trichophyton infection" RELATED [GARD:0003109] xref: GARD:0003109 {source="MONDO:equivalentTo"} -xref: ICD10CM:B35.0 {source="Orphanet:499", source="ORDO:499/ntbt"} -xref: MESH:C536165 {source="Orphanet:499", source="ORDO:499/e"} +xref: ICD10CM:B35.0 {source="Orphanet:499", source="Orphanet:499/ntbt"} +xref: MESH:C536165 {source="Orphanet:499", source="Orphanet:499/e"} xref: OMIM:275240 {source="MONDO:equivalentTo"} xref: Orphanet:499 {source="MONDO:equivalentTo"} xref: SCTID:19087001 {source="MONDO:equivalentTo"} -xref: UMLS:C0276742 {source="Orphanet:499", source="OMIM:275240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:499/e"} +xref: UMLS:C0276742 {source="Orphanet:499", source="OMIM:275240", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:499/e"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder property_value: confidence "2.0714285714285716" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi xsd:anyURI {source="GARD:0003109"} @@ -195496,15 +195460,15 @@ synonym: "Mounier-Kühn syndrome" RELATED [Orphanet:3347] synonym: "tracheobronchomegaly" EXACT [OMIM:275300, Orphanet:3347] xref: GARD:0003793 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0005234 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:J98.0 {source="Orphanet:3347", source="ORDO:3347/ntbt"} +xref: ICD10CM:J98.0 {source="Orphanet:3347/ntbt", source="Orphanet:3347"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10044316 {source="Orphanet:3347", source="ORDO:3347/e"} -xref: MESH:D014137 {source="Orphanet:3347", source="ORDO:3347/e", source="MONDO:equivalentTo"} +xref: MedDRA:10044316 {source="Orphanet:3347", source="Orphanet:3347/e"} +xref: MESH:D014137 {source="Orphanet:3347", source="MONDO:equivalentTo", source="Orphanet:3347/e"} xref: NCIT:C85196 {source="MONDO:equivalentTo"} -xref: OMIM:275300 {source="Orphanet:3347", source="ORDO:3347/e", source="MONDO:equivalentTo"} +xref: OMIM:275300 {source="Orphanet:3347", source="MONDO:equivalentTo", source="Orphanet:3347/e"} xref: Orphanet:3347 {source="MONDO:equivalentTo", source="OMIM:275300"} xref: SCTID:57451009 {source="MONDO:equivalentTo"} -xref: UMLS:C0040587 {source="Orphanet:3347", source="NCBI:mim2gene_medline", source="ORDO:3347/e", source="MONDO:equivalentTo", source="NCIT:C85196", source="OMIM:275300"} +xref: UMLS:C0040587 {source="Orphanet:3347", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85196", source="Orphanet:3347/e", source="OMIM:275300"} xref: UMLS:C2713583 {source="Orphanet:3347", source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="Orphanet:3347"} ! respiratory system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020000"} ! rare @@ -195523,12 +195487,12 @@ synonym: "transcobalamin deficiency" RELATED [Orphanet:859] synonym: "transcobalamin II deficiency" EXACT CLINGEN_PREFERRED [OMIM:275350, Orphanet:859] xref: DOID:0050818 {source="MONDO:equivalentTo"} xref: GARD:0012338 {source="MONDO:equivalentTo"} -xref: ICD10CM:D51.2 {source="MONDO:equivalentTo", source="ORDO:859/attributed", source="ORDO:859/ntbt", source="Orphanet:859"} +xref: ICD10CM:D51.2 {source="MONDO:equivalentTo", source="Orphanet:859", source="Orphanet:859/attributed", source="Orphanet:859/ntbt"} xref: NCIT:C142806 {source="MONDO:equivalentTo"} -xref: OMIM:275350 {source="ORDO:859/e", source="MONDO:equivalentTo", source="Orphanet:859", source="DOID:0050818"} +xref: OMIM:275350 {source="MONDO:equivalentTo", source="Orphanet:859", source="DOID:0050818", source="Orphanet:859/e"} xref: Orphanet:859 {source="OMIM:275350", source="MONDO:equivalentTo"} xref: SCTID:237934001 {source="MONDO:equivalentTo"} -xref: UMLS:C0342701 {source="ORDO:859/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:859"} +xref: UMLS:C0342701 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:859", source="Orphanet:859/e"} xref: UMLS:C1420653 {source="OMIM:275350", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000424 {source="DOID:0050818", source="MONDO:Redundant", source="OMIM:275350"} ! inborn vitamin B12 deficiency is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity @@ -195555,14 +195519,14 @@ synonym: "squamous cell carcinoma, head and neck, somatic" EXACT [OMIM:275355, O synonym: "squamous cell carcinomas of head and neck" EXACT [DOID:5520] xref: DOID:5520 {source="MONDO:equivalentTo", source="EFO:0000181"} xref: EFO:0000181 {source="MONDO:equivalentTo"} -xref: MedDRA:10060121 {source="ORDO:67037/e", source="Orphanet:67037"} -xref: MESH:C535575 {source="DOID:5520", source="MONDO:equivalentTo", source="ORDO:67037/e", source="Orphanet:67037"} +xref: MedDRA:10060121 {source="Orphanet:67037/e", source="Orphanet:67037"} +xref: MESH:C535575 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="Orphanet:67037"} xref: NCIT:C34447 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181"} -xref: OMIM:275355 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181", source="ORDO:67037/e", source="Orphanet:67037"} +xref: OMIM:275355 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="EFO:0000181", source="Orphanet:67037"} xref: ONCOTREE:HNSC {source="MONDO:equivalentTo"} xref: Orphanet:67037 {source="MONDO:equivalentTo", source="OMIM:275355"} xref: SCTID:716659002 {source="MONDO:equivalentTo"} -xref: UMLS:C1168401 {source="DOID:5520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275355", source="NCIT:C34447", source="ORDO:67037/e", source="Orphanet:67037"} +xref: UMLS:C1168401 {source="DOID:5520", source="Orphanet:67037/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275355", source="NCIT:C34447", source="Orphanet:67037"} is_a: MONDO:0002038 {source="DOID:5520", source="MONDO:Redundant", source="NCIT:C34447"} ! head and neck carcinoma is_a: MONDO:0005096 {source="DOID:5520", source="EFO:0000181", source="MESH:C535575", source="MONDO:Redundant", source="NCIT:C34447", source="linkedlifedata"} ! squamous cell carcinoma is_a: MONDO:0005586 {source="Orphanet:67037"} ! head and neck neoplasm @@ -195600,7 +195564,7 @@ synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degener xref: DOID:0111271 {source="MONDO:equivalentTo"} xref: GARD:0005266 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C536554 {source="MONDO:equivalentTo"} -xref: OMIM:275400 {source="MONDO:equivalentTo", source="Orphanet:3363", source="ORDO:3363/e"} +xref: OMIM:275400 {source="Orphanet:3363/e", source="MONDO:equivalentTo", source="Orphanet:3363"} xref: Orphanet:3363 {source="MONDO:equivalentTo", source="OMIM:275400"} xref: SCTID:719944006 {source="MONDO:equivalentTo"} xref: UMLS:C1848745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:275400", source="Orphanet:3363"} @@ -195618,7 +195582,7 @@ synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [OMIM:275 synonym: "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" EXACT [Orphanet:3355] xref: GARD:0005267 {source="MONDO:equivalentTo"} xref: MESH:C564760 {source="MONDO:equivalentTo"} -xref: OMIM:275450 {source="ORDO:3355/e", source="Orphanet:3355", source="MONDO:equivalentTo"} +xref: OMIM:275450 {source="Orphanet:3355", source="MONDO:equivalentTo", source="Orphanet:3355/e"} xref: Orphanet:3355 {source="MONDO:equivalentTo", source="OMIM:275450"} xref: SCTID:766813000 {source="MONDO:equivalentTo"} xref: UMLS:C1848744 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -195638,9 +195602,9 @@ synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalit synonym: "trigonocephaly - bifid nose - acral anomalies" RELATED [GARD:0005126] xref: GARD:0005126 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: GARD:0005277 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:3368", source="ORDO:3368/attributed", source="ORDO:3368/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:3368/attributed", source="Orphanet:3368/ntbt", source="Orphanet:3368"} xref: MESH:C564759 {source="MONDO:equivalentTo"} -xref: OMIM:275595 {source="ORDO:3368/e", source="Orphanet:3368", source="MONDO:equivalentTo"} +xref: OMIM:275595 {source="Orphanet:3368", source="MONDO:equivalentTo", source="Orphanet:3368/e"} xref: Orphanet:3368 {source="MONDO:equivalentTo", source="OMIM:275595"} xref: UMLS:C1848743 {source="NCBI:mim2gene_medline", source="Orphanet:3368", source="MONDO:equivalentTo", source="OMIM:275595"} is_a: MONDO:0015161 {source="Orphanet:3368", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -195668,8 +195632,8 @@ synonym: "neutral lipid storage disease with ichthyotic" RELATED [GARD:0003979] synonym: "NLSDI" EXACT ABBREVIATION [Orphanet:98907] synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630] xref: GARD:0003979 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.5 {source="ORDO:98907/attributed", source="ORDO:98907/ntbt", source="Orphanet:98907"} -xref: OMIM:275630 {source="MONDO:equivalentTo", source="ORDO:98907/e", source="Orphanet:98907", source="DOID:0050729"} +xref: ICD10CM:E75.5 {source="Orphanet:98907/attributed", source="Orphanet:98907/ntbt", source="Orphanet:98907"} +xref: OMIM:275630 {source="Orphanet:98907/e", source="MONDO:equivalentTo", source="Orphanet:98907", source="DOID:0050729"} xref: Orphanet:98907 {source="MONDO:equivalentTo", source="OMIM:275630"} xref: SCTID:19604005 {source="MONDO:equivalentTo"} xref: UMLS:C0268238 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:275630", source="Orphanet:98907"} @@ -195701,10 +195665,10 @@ synonym: "SPG20" EXACT ABBREVIATION [DOID:0050886, MONDO:Lexical, OMIM:275900, O synonym: "Troyer syndrome" EXACT [OMIM:275900, Orphanet:101000] xref: DOID:0050886 {source="MONDO:equivalentTo"} xref: GARD:0005372 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101000", source="DOID:0050886", source="ORDO:101000/attributed", source="ORDO:101000/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101000", source="Orphanet:101000/attributed", source="Orphanet:101000/ntbt", source="DOID:0050886"} xref: ICD9:335.29 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536858 {source="MONDO:equivalentTo"} -xref: OMIM:275900 {source="Orphanet:101000", source="MONDO:equivalentTo", source="DOID:0050886", source="ORDO:101000/e"} +xref: OMIM:275900 {source="Orphanet:101000", source="MONDO:equivalentTo", source="DOID:0050886", source="Orphanet:101000/e"} xref: Orphanet:101000 {source="OMIM:275900", source="MONDO:equivalentTo", source="DOID:0050886"} xref: SCTID:230264003 {source="MONDO:equivalentTo"} xref: UMLS:C0393559 {source="OMIM:275900", source="Orphanet:101000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -195762,7 +195726,7 @@ synonym: "Turcot syndrome" RELATED [OMIM:276300] xref: GARD:0000420 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536928 {source="MONDO:equivalentTo"} xref: NCIT:C130202 {source="MONDO:equivalentTo"} -xref: OMIM:276300 {source="MONDO:equivalentTo", source="Orphanet:252202", source="ORDO:252202/e"} +xref: OMIM:276300 {source="MONDO:equivalentTo", source="Orphanet:252202", source="Orphanet:252202/e"} xref: Orphanet:252202 {source="MONDO:equivalentTo", source="OMIM:276300"} xref: Orphanet:99817 {source="OMIM:276300"} xref: SCTID:61665008 {source="MONDO:equivalentTo"} @@ -195801,10 +195765,10 @@ synonym: "Tyrosinosis, oculocutaneous type" RELATED [OMIM:276600] synonym: "TYRSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276600] xref: DOID:0050725 {source="MONDO:equivalentTo"} xref: GARD:0003105 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.2 {source="ORDO:28378/ntbt", source="Orphanet:28378", source="ORDO:28378/inclusion"} -xref: MedDRA:10069463 {source="ORDO:28378/e", source="Orphanet:28378"} +xref: ICD10CM:E70.2 {source="Orphanet:28378/inclusion", source="Orphanet:28378/ntbt", source="Orphanet:28378"} +xref: MedDRA:10069463 {source="Orphanet:28378/e", source="Orphanet:28378"} xref: NCIT:C129032 {source="MONDO:equivalentTo"} -xref: OMIM:276600 {source="MONDO:equivalentTo", source="ORDO:28378/e", source="DOID:0050725", source="Orphanet:28378"} +xref: OMIM:276600 {source="Orphanet:28378/e", source="MONDO:equivalentTo", source="DOID:0050725", source="Orphanet:28378"} xref: Orphanet:28378 {source="MONDO:equivalentTo", source="OMIM:276600"} xref: SCTID:4887000 {source="MONDO:equivalentTo"} xref: UMLS:C0268487 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:28378", source="OMIM:276600", source="NCIT:C129032"} @@ -195839,13 +195803,13 @@ synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical, OMIM:276700] synonym: "TYRSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276700] xref: DOID:0050726 {source="MONDO:equivalentTo"} xref: GARD:0002658 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.2 {source="ORDO:882/ntbt", source="ORDO:882/inclusion", source="Orphanet:882"} -xref: MedDRA:10069462 {source="ORDO:882/e", source="Orphanet:882"} +xref: ICD10CM:E70.2 {source="Orphanet:882/ntbt", source="Orphanet:882/inclusion", source="Orphanet:882"} +xref: MedDRA:10069462 {source="Orphanet:882/e", source="Orphanet:882"} xref: NCIT:C98641 {source="MONDO:equivalentTo"} -xref: OMIM:276700 {source="MONDO:equivalentTo", source="DOID:0050726", source="ORDO:882/e", source="Orphanet:882"} +xref: OMIM:276700 {source="Orphanet:882/e", source="MONDO:equivalentTo", source="DOID:0050726", source="Orphanet:882"} xref: Orphanet:882 {source="MONDO:equivalentTo", source="OMIM:276700"} xref: SCTID:410056006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:882/e", source="NCIT:C98641", source="Orphanet:882"} +xref: UMLS:C0268490 {source="NCBI:mim2gene_medline", source="Orphanet:882/e", source="MONDO:equivalentTo", source="NCIT:C98641", source="Orphanet:882"} xref: UMLS:C1414525 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:276700"} is_a: MONDO:0004741 {source="DC-OMIM:276700", source="DOID:0050726", source="NCIT:C98641", source="OMIM:276700"} ! tyrosinemia is_a: MONDO:0005066 {source="Orphanet:882"} ! metabolic disease @@ -195877,13 +195841,13 @@ synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical, OMIM:276710] synonym: "TYRSN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276710] xref: DOID:0050727 {source="MONDO:equivalentTo"} xref: GARD:0010332 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.2 {source="Orphanet:69723", source="ORDO:69723/attributed", source="ORDO:69723/ntbt"} +xref: ICD10CM:E70.2 {source="Orphanet:69723", source="Orphanet:69723/attributed", source="Orphanet:69723/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069461 {source="Orphanet:69723", source="ORDO:69723/e"} -xref: OMIM:276710 {source="Orphanet:69723", source="MONDO:equivalentTo", source="DOID:0050727", source="ORDO:69723/e"} +xref: MedDRA:10069461 {source="Orphanet:69723", source="Orphanet:69723/e"} +xref: OMIM:276710 {source="Orphanet:69723", source="MONDO:equivalentTo", source="Orphanet:69723/e", source="DOID:0050727"} xref: Orphanet:69723 {source="MONDO:equivalentTo", source="OMIM:276710"} xref: SCTID:415764005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268623 {source="Orphanet:69723", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276710", source="ORDO:69723/e"} +xref: UMLS:C0268623 {source="Orphanet:69723", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69723/e", source="OMIM:276710"} is_a: MONDO:0004741 {source="DC-OMIM:276710", source="DOID:0050727", source="OMIM:276710"} ! tyrosinemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5147 {source="mim2gene_medgen"} ! HPD relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia @@ -195925,9 +195889,9 @@ synonym: "ulna and fibula absence of with severe limb deficiency" RELATED [GARD: synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMIM:276820] xref: GARD:0005124 {source="MONDO:equivalentTo"} xref: GARD:0009212 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2879/attributed", source="ORDO:2879/ntbt", source="Orphanet:2879"} +xref: ICD10CM:Q87.2 {source="Orphanet:2879/attributed", source="Orphanet:2879/ntbt", source="Orphanet:2879"} xref: MESH:C535612 {source="MONDO:equivalentTo"} -xref: OMIM:276820 {source="MONDO:equivalentTo", source="ORDO:2879/e", source="Orphanet:2879", source="GARD:0005124"} +xref: OMIM:276820 {source="Orphanet:2879/e", source="MONDO:equivalentTo", source="Orphanet:2879", source="GARD:0005124"} xref: Orphanet:2879 {source="MONDO:equivalentTo", source="OMIM:276820"} xref: SCTID:715522000 {source="MONDO:equivalentTo"} xref: UMLS:C1848651 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:276820"} @@ -195954,13 +195918,13 @@ synonym: "ulna hypoplasia with mental retardation" RELATED DEPRECATED [GARD:0005 synonym: "ulnar hypoplasia with intellectual disability" RELATED [OMIM:276821] synonym: "ulnar hypoplasia with mental retardation" RELATED DEPRECATED [OMIM:276821] xref: GARD:0005398 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2249/attributed", source="ORDO:2249/ntbt", source="Orphanet:2249"} -xref: MESH:C536934 {source="Orphanet:2249", source="ORDO:2249/e"} +xref: ICD10CM:Q87.2 {source="Orphanet:2249", source="Orphanet:2249/attributed", source="Orphanet:2249/ntbt"} +xref: MESH:C536934 {source="Orphanet:2249", source="Orphanet:2249/e"} xref: MESH:C564757 {source="MONDO:equivalentTo"} -xref: OMIM:276821 {source="MONDO:equivalentTo", source="Orphanet:2249", source="ORDO:2249/e"} +xref: OMIM:276821 {source="MONDO:equivalentTo", source="Orphanet:2249", source="Orphanet:2249/e"} xref: Orphanet:2249 {source="MONDO:equivalentTo", source="OMIM:276821"} xref: UMLS:C1848650 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2249", source="OMIM:276821"} -xref: UMLS:C2931370 {source="MONDO:equivalentTo", source="Orphanet:2249", source="ORDO:2249/e"} +xref: UMLS:C2931370 {source="MONDO:equivalentTo", source="Orphanet:2249", source="Orphanet:2249/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -195987,9 +195951,9 @@ synonym: "urocanic aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2 synonym: "UROCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276880] xref: GARD:0008539 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: HP:0012237 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E70.8 {source="ORDO:210128/attributed", source="ORDO:210128/ntbt", source="Orphanet:210128"} +xref: ICD10CM:E70.8 {source="Orphanet:210128", source="Orphanet:210128/attributed", source="Orphanet:210128/ntbt"} xref: MESH:C536479 {source="MONDO:equivalentTo"} -xref: OMIM:276880 {source="MONDO:equivalentTo", source="ORDO:210128/e", source="Orphanet:210128"} +xref: OMIM:276880 {source="MONDO:equivalentTo", source="Orphanet:210128", source="Orphanet:210128/e"} xref: Orphanet:210128 {source="MONDO:equivalentTo", source="OMIM:276880"} xref: SCTID:60952007 {source="MONDO:equivalentTo"} xref: UMLS:C0268514 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276880", source="Orphanet:210128"} @@ -196022,21 +195986,21 @@ synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900] xref: DOID:0110826 {source="MONDO:equivalentTo"} xref: GARD:0005435 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0005436 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="ORDO:231169/attributed", source="ORDO:231169/ntbt", source="Orphanet:231169"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="Orphanet:231169", source="Orphanet:231169/attributed", source="Orphanet:231169/ntbt"} xref: NCIT:C126327 {source="MONDO:equivalentTo"} -xref: OMIM:276900 {source="GARD:0005436", source="DOID:0110826", source="MONDO:superClassOf", source="ORDO:231169/btnt", source="Orphanet:231169"} -xref: OMIM:276904 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:601067 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:602083 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:602097 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:606943 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:612632 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:614869 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} -xref: OMIM:614990 {source="MONDO:superClassOf", source="ORDO:231169/btnt"} +xref: OMIM:276900 {source="GARD:0005436", source="DOID:0110826", source="MONDO:superClassOf", source="Orphanet:231169", source="Orphanet:231169/btnt"} +xref: OMIM:276904 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:601067 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:602083 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:602097 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:606943 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:612632 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:614869 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} +xref: OMIM:614990 {source="MONDO:superClassOf", source="Orphanet:231169/btnt"} xref: Orphanet:231169 {source="DOID:0110826", source="MONDO:equivalentTo", source="OMIM:276900"} xref: Orphanet:886 {source="MONDO:subClassOf", source="OMIM:276900"} xref: SCTID:232057003 {source="MONDO:equivalentTo"} -xref: UMLS:C0339533 {source="ORDO:231169/e", source="DOID:0110826", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:231169"} +xref: UMLS:C0339533 {source="DOID:0110826", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:231169", source="Orphanet:231169/e"} xref: UMLS:C1568247 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C126327", source="OMIM:276900"} xref: UMLS:C1848638 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:276900"} xref: UMLS:C1848639 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:276900"} @@ -196139,9 +196103,9 @@ synonym: "Vater association with hydrocephalus" RELATED [OMIM:276950] synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMIM:276950] synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272] xref: GARD:0000272 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3412", source="ORDO:3412/attributed", source="ORDO:3412/ntbt"} -xref: OMIM:276950 {source="ORDO:3412/e", source="Orphanet:3412", source="MONDO:equivalentTo"} -xref: OMIM:314390 {source="Orphanet:3412", source="MONDO:superClassOf", source="ORDO:3412/btnt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3412/attributed", source="Orphanet:3412/ntbt", source="Orphanet:3412"} +xref: OMIM:276950 {source="Orphanet:3412", source="MONDO:equivalentTo", source="Orphanet:3412/e"} +xref: OMIM:314390 {source="Orphanet:3412/btnt", source="Orphanet:3412", source="MONDO:superClassOf"} xref: Orphanet:3412 {source="MONDO:equivalentTo", source="OMIM:276950"} xref: UMLS:C1848599 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:276950"} xref: UMLS:C1848600 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:276950"} @@ -196178,9 +196142,9 @@ synonym: "urogenital adysplasia" RELATED [OMIM:277000] synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [OMIM:277000] synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [OMIM:277000] xref: GARD:0007100 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q51.8 {source="Orphanet:247775", source="ORDO:247775/attributed", source="ORDO:247775/ntbt"} +xref: ICD10CM:Q51.8 {source="Orphanet:247775/attributed", source="Orphanet:247775/ntbt", source="Orphanet:247775"} xref: ICD9:752.49 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:277000 {source="ORDO:247775/e", source="Orphanet:247775", source="MONDO:equivalentTo", source="GARD:0007100"} +xref: OMIM:277000 {source="Orphanet:247775", source="MONDO:equivalentTo", source="Orphanet:247775/e", source="GARD:0007100"} xref: Orphanet:247775 {source="OMIM:277000", source="MONDO:equivalentTo"} xref: Orphanet:3109 {source="MONDO:subClassOf", source="OMIM:277000"} xref: SCTID:8793008 {source="MONDO:equivalentTo"} @@ -196250,17 +196214,17 @@ synonym: "Váradi syndrome" RELATED [GARD:0004412] synonym: "Váradi-Papp syndrome" RELATED [GARD:0004412] xref: DOID:0060376 {source="MONDO:equivalentTo"} xref: GARD:0004412 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:2754/attributed", source="ORDO:2754/ntbt", source="Orphanet:2754"} +xref: ICD10CM:Q04.3 {source="Orphanet:2754", source="Orphanet:2754/attributed", source="Orphanet:2754/ntbt"} xref: MESH:C536531 {source="DOID:0060376", source="MONDO:equivalentTo"} xref: NCIT:C124841 {source="MONDO:equivalentTo"} -xref: OMIM:277170 {source="DOID:0060376", source="ORDO:2754/e", source="MONDO:equivalentTo", source="Orphanet:2754"} -xref: OMIM:300804 {source="MONDO:superClassOf", source="ORDO:2754/btnt", source="Orphanet:2754"} -xref: OMIM:614815 {source="MONDO:superClassOf", source="ORDO:2754/btnt", source="Orphanet:2754"} -xref: OMIM:615665 {source="MONDO:superClassOf", source="ORDO:2754/btnt", source="Orphanet:2754"} +xref: OMIM:277170 {source="DOID:0060376", source="MONDO:equivalentTo", source="Orphanet:2754", source="Orphanet:2754/e"} +xref: OMIM:300804 {source="MONDO:superClassOf", source="Orphanet:2754", source="Orphanet:2754/btnt"} +xref: OMIM:614815 {source="MONDO:superClassOf", source="Orphanet:2754", source="Orphanet:2754/btnt"} +xref: OMIM:615665 {source="MONDO:superClassOf", source="Orphanet:2754", source="Orphanet:2754/btnt"} xref: OMIM:617127 {source="MONDO:superClassOf", source="Orphanet:2754"} xref: Orphanet:2754 {source="DOID:0060376", source="GARD:0004412", source="MONDO:equivalentTo", source="OMIM:277170"} xref: SCTID:721873007 {source="MONDO:equivalentTo"} -xref: UMLS:C2745997 {source="DOID:0060376", source="ORDO:2754/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2754", source="NCIT:C124841", source="OMIM:277170"} +xref: UMLS:C2745997 {source="DOID:0060376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2754", source="NCIT:C124841", source="Orphanet:2754/e", source="OMIM:277170"} is_a: MONDO:0000508 {source="Orphanet:2754"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124841", source="indirect"} ! syndromic disease is_a: MONDO:0015375 {source="DC-OMIM:277170", source="MESH:C536531", source="Orphanet:2754", source="linkedlifedata"} ! orofaciodigital syndrome @@ -196284,13 +196248,13 @@ synonym: "Rambaud-Gallian-Touchard syndrome" EXACT [Orphanet:3018] synonym: "retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT [Orphanet:3018] synonym: "vascular hyalinosis" EXACT [OMIM:277175] xref: GARD:0004635 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E78.8 {source="ORDO:3018/ntbt", source="Orphanet:3018"} -xref: MESH:C535283 {source="ORDO:3018/e", source="Orphanet:3018"} +xref: ICD10CM:E78.8 {source="Orphanet:3018", source="Orphanet:3018/ntbt"} +xref: MESH:C535283 {source="Orphanet:3018", source="Orphanet:3018/e"} xref: MESH:C564750 {source="MONDO:equivalentTo"} -xref: OMIM:277175 {source="ORDO:3018/e", source="MONDO:equivalentTo", source="Orphanet:3018"} +xref: OMIM:277175 {source="MONDO:equivalentTo", source="Orphanet:3018", source="Orphanet:3018/e"} xref: Orphanet:3018 {source="OMIM:277175", source="MONDO:equivalentTo"} xref: UMLS:C1848590 {source="NCBI:mim2gene_medline", source="OMIM:277175", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2930864 {source="ORDO:3018/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3018"} +xref: UMLS:C2930864 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3018", source="Orphanet:3018/e"} is_a: MONDO:0003847 {source="MESH:C564750/inferred"} ! Mendelian disease property_value: confidence "8.333333333333334" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3607 xsd:string @@ -196308,7 +196272,7 @@ xref: NCIT:C129303 {source="MONDO:equivalentTo"} xref: OMIM:277180 {source="MONDO:equivalentTo"} xref: Orphanet:48 {source="MONDO:subClassOf", source="OMIM:277180"} xref: UMLS:C0403814 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C129303", source="OMIM:277180"} -is_a: MONDO:0018801 {source="OMIM:277180", source="ORDO:48/btnt"} ! congenital bilateral absence of vas deferens +is_a: MONDO:0018801 {source="OMIM:277180", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1884 {source="mim2gene_medgen"} ! CFTR relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -196327,9 +196291,9 @@ synonym: "right ventricle hypoplasia" RELATED [GARD:0004721] synonym: "right ventricular hypoplasia" RELATED [GARD:0004721] synonym: "right ventricular hypoplasia, isolated" RELATED [OMIM:277200] xref: GARD:0004721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q22.6 {source="MONDO:subClassOf", source="Orphanet:439", source="ORDO:439/ntbt"} +xref: ICD10CM:Q22.6 {source="MONDO:subClassOf", source="Orphanet:439", source="Orphanet:439/ntbt"} xref: MESH:C535682 {source="MONDO:equivalentTo"} -xref: OMIM:277200 {source="ORDO:439/e", source="MONDO:equivalentTo", source="Orphanet:439"} +xref: OMIM:277200 {source="MONDO:equivalentTo", source="Orphanet:439", source="Orphanet:439/e"} xref: Orphanet:439 {source="MONDO:equivalentTo", source="OMIM:277200"} xref: SCTID:718135001 {source="MONDO:equivalentTo"} xref: UMLS:C1848587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277200", source="Orphanet:439"} @@ -196347,19 +196311,19 @@ synonym: "Jarcho-Levin syndrome" EXACT [Orphanet:2311] synonym: "SCDO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277300] synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:277300] synonym: "spondylocostal dysostosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:Q76.8 {source="Orphanet:2311", source="ORDO:2311/attributed", source="ORDO:2311/ntbt"} +xref: ICD10CM:Q76.8 {source="Orphanet:2311", source="Orphanet:2311/attributed", source="Orphanet:2311/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535781 {source="Orphanet:2311", source="ORDO:2311/e", source="MONDO:equivalentTo"} -xref: MESH:C537565 {source="Orphanet:2311", source="ORDO:2311/e"} -xref: OMIM:277300 {source="Orphanet:2311", source="ORDO:2311/e", source="MONDO:superClassOf"} -xref: OMIM:608681 {source="Orphanet:2311", source="MONDO:superClassOf", source="ORDO:2311/btnt"} -xref: OMIM:609813 {source="Orphanet:2311", source="MONDO:superClassOf", source="ORDO:2311/btnt"} -xref: OMIM:613686 {source="Orphanet:2311", source="MONDO:superClassOf", source="ORDO:2311/btnt"} -xref: OMIM:616566 {source="Orphanet:2311", source="MONDO:superClassOf", source="ORDO:2311/btnt"} +xref: MESH:C535781 {source="Orphanet:2311", source="MONDO:equivalentTo", source="Orphanet:2311/e"} +xref: MESH:C537565 {source="Orphanet:2311", source="Orphanet:2311/e"} +xref: OMIM:277300 {source="Orphanet:2311", source="MONDO:superClassOf", source="Orphanet:2311/e"} +xref: OMIM:608681 {source="Orphanet:2311", source="Orphanet:2311/btnt", source="MONDO:superClassOf"} +xref: OMIM:609813 {source="Orphanet:2311", source="Orphanet:2311/btnt", source="MONDO:superClassOf"} +xref: OMIM:613686 {source="Orphanet:2311", source="Orphanet:2311/btnt", source="MONDO:superClassOf"} +xref: OMIM:616566 {source="Orphanet:2311", source="Orphanet:2311/btnt", source="MONDO:superClassOf"} xref: Orphanet:2311 {source="MONDO:equivalentTo", source="OMIM:277300"} xref: SCTID:61367005 {source="MONDO:equivalentTo"} -xref: UMLS:C0265343 {source="Orphanet:2311", source="ORDO:2311/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:277300"} -xref: UMLS:C2931020 {source="Orphanet:2311", source="ORDO:2311/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265343 {source="Orphanet:2311", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2311/e", source="OMIM:277300"} +xref: UMLS:C2931020 {source="Orphanet:2311", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2311/e"} xref: UMLS:CN032975 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000359 {source="DC-OMIM:277300", source="MONDO:Redundant", source="OMIM:277300"} ! spondylocostal dysostosis is_a: MONDO:0017747 {source="Orphanet:2311"} ! disorder of fucoglycosan synthesis @@ -196381,12 +196345,12 @@ synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0 synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [OMIM:277320] synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876] xref: GARD:0005496 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="ORDO:1876/attributed", source="ORDO:1876/ntbt", source="Orphanet:1876"} -xref: MESH:C536350 {source="ORDO:1876/e", source="Orphanet:1876"} -xref: OMIM:277320 {source="MONDO:equivalentTo", source="ORDO:1876/e", source="Orphanet:1876"} +xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:1876", source="Orphanet:1876/attributed", source="Orphanet:1876/ntbt"} +xref: MESH:C536350 {source="Orphanet:1876", source="Orphanet:1876/e"} +xref: OMIM:277320 {source="MONDO:equivalentTo", source="Orphanet:1876", source="Orphanet:1876/e"} xref: Orphanet:1876 {source="MONDO:equivalentTo", source="OMIM:277320"} xref: SCTID:722060007 {source="MONDO:equivalentTo"} -xref: UMLS:C1848586 {source="NCBI:mim2gene_medline", source="ORDO:1876/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:277320", source="Orphanet:1876"} +xref: UMLS:C1848586 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:277320", source="Orphanet:1876", source="Orphanet:1876/e"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder is_a: MONDO:0021189 {source="Orphanet:1876"} ! intestinal motility disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare @@ -196400,7 +196364,7 @@ xref: MESH:C567486 {source="MONDO:equivalentTo"} xref: OMIM:277350 {source="MONDO:equivalentTo"} xref: Orphanet:199285 {source="MONDO:subClassOf", source="OMIM:277350"} xref: UMLS:C2678266 {source="OMIM:277350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007272 {source="ORDO:199285/btnt"} ! hereditary hypercarotenemia and vitamin A deficiency +is_a: MONDO:0007272 {source="Orphanet:199285/btnt"} ! hereditary hypercarotenemia and vitamin A deficiency property_value: confidence "1.6470588235294117" xsd:double [Term] @@ -196430,9 +196394,9 @@ synonym: "vitamin B12 lysosomal release defect" RELATED [OMIM:277380] synonym: "vitamin B12 storage disease" RELATED [OMIM:277380] xref: DOID:0050717 {source="MONDO:equivalentTo"} xref: GARD:0003584 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="ORDO:79284/attributed", source="ORDO:79284/ntbt", source="Orphanet:79284"} +xref: ICD10CM:E72.1 {source="Orphanet:79284", source="Orphanet:79284/attributed", source="Orphanet:79284/ntbt"} xref: MESH:C564747 {source="MONDO:equivalentTo"} -xref: OMIM:277380 {source="ORDO:79284/e", source="MONDO:equivalentTo", source="Orphanet:79284", source="DOID:0050717"} +xref: OMIM:277380 {source="MONDO:equivalentTo", source="Orphanet:79284", source="DOID:0050717", source="Orphanet:79284/e"} xref: Orphanet:26 {source="MONDO:subClassOf", source="OMIM:277380"} xref: Orphanet:79284 {source="OMIM:277380", source="MONDO:equivalentTo"} xref: SCTID:80887004 {source="MONDO:equivalentTo"} @@ -196472,9 +196436,9 @@ synonym: "methylmalonic aciduria with homocystinuria, type cblC" EXACT [Orphanet synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [OMIM:277400] xref: DOID:0050715 {source="MONDO:equivalentTo"} xref: GARD:0012128 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="Orphanet:79282", source="ORDO:79282/attributed", source="ORDO:79282/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:79282", source="Orphanet:79282/attributed", source="Orphanet:79282/ntbt"} xref: NCIT:C142174 {source="MONDO:equivalentTo"} -xref: OMIM:277400 {source="ORDO:79282/e", source="MONDO:equivalentTo", source="Orphanet:79282", source="DOID:0050715"} +xref: OMIM:277400 {source="MONDO:equivalentTo", source="Orphanet:79282", source="DOID:0050715", source="Orphanet:79282/e"} xref: Orphanet:26 {source="MONDO:subClassOf", source="OMIM:277400"} xref: Orphanet:79282 {source="MONDO:equivalentTo", source="OMIM:277400"} xref: SCTID:74653006 {source="MONDO:equivalentTo"} @@ -196517,9 +196481,9 @@ synonym: "methylmalonic aciduria, Cblh type" RELATED [OMIM:277410] synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [OMIM:277410] xref: DOID:0050716 {source="MONDO:equivalentTo"} xref: GARD:0003582 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="ORDO:79283/attributed", source="ORDO:79283/ntbt", source="Orphanet:79283"} +xref: ICD10CM:E72.1 {source="Orphanet:79283", source="Orphanet:79283/attributed", source="Orphanet:79283/ntbt"} xref: MESH:C564743 {source="MONDO:equivalentTo"} -xref: OMIM:277410 {source="ORDO:79283/e", source="MONDO:equivalentTo", source="Orphanet:79283", source="DOID:0050716"} +xref: OMIM:277410 {source="MONDO:equivalentTo", source="Orphanet:79283", source="Orphanet:79283/e", source="DOID:0050716"} xref: Orphanet:26 {source="MONDO:subClassOf", source="OMIM:277410"} xref: Orphanet:28 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:277410"} xref: Orphanet:308380 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:277410"} @@ -196595,10 +196559,10 @@ synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 1" synonym: "vitamin K-dependent coagulation defect" RELATED [OMIM:277450] synonym: "Vkcfd" RELATED [OMIM:277450] synonym: "VKCFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277450] -xref: ICD10CM:D68.2 {source="Orphanet:98434", source="ORDO:98434/attributed", source="ORDO:98434/ntbt"} +xref: ICD10CM:D68.2 {source="Orphanet:98434/attributed", source="Orphanet:98434/ntbt", source="Orphanet:98434"} xref: MESH:C564741 {source="MONDO:equivalentTo"} -xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="ORDO:98434/e"} -xref: OMIM:607473 {source="Orphanet:98434", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="ORDO:98434/btnt"} +xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="Orphanet:98434/e"} +xref: OMIM:607473 {source="Orphanet:98434/btnt", source="Orphanet:98434", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: Orphanet:98434 {source="OMIM:277450", source="MONDO:equivalentTo"} xref: SCTID:724356003 {source="MONDO:equivalentTo"} xref: UMLS:C1848534 {source="Orphanet:98434", source="NCBI:mim2gene_medline", source="OMIM:277450", source="MONDO:equivalentTo"} @@ -196628,15 +196592,15 @@ synonym: "VED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277460] synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical, OMIM:277460] xref: DOID:0090028 {source="MONDO:equivalentTo"} xref: GARD:0008595 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="DOID:0090028", source="ORDO:96/attributed", source="ORDO:96/ntbt", source="Orphanet:96"} +xref: ICD10CM:G11.1 {source="Orphanet:96/attributed", source="Orphanet:96/ntbt", source="DOID:0090028", source="Orphanet:96"} xref: ICD9:269.1 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10047631 {source="Orphanet:96", source="ORDO:96/e"} -xref: MESH:C535393 {source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96", source="ORDO:96/e"} -xref: OMIM:277460 {source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96", source="ORDO:96/e"} +xref: MedDRA:10047631 {source="Orphanet:96/e", source="Orphanet:96"} +xref: MESH:C535393 {source="Orphanet:96/e", source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96"} +xref: OMIM:277460 {source="Orphanet:96/e", source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96"} xref: Orphanet:96 {source="OMIM:277460", source="MONDO:equivalentTo", source="DOID:0090028"} xref: SCTID:702442008 {source="MONDO:equivalentTo"} -xref: UMLS:C1848533 {source="OMIM:277460", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:0090028", source="Orphanet:96", source="ORDO:96/e"} +xref: UMLS:C1848533 {source="OMIM:277460", source="Orphanet:96/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:0090028", source="Orphanet:96"} is_a: MONDO:0005528 {source="DOID:0090028"} ! inborn vitamin metabolic disorder is_a: MONDO:0017760 {source="Orphanet:96"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0019058 {source="Orphanet:96"} ! neurometabolic disease @@ -196674,7 +196638,7 @@ xref: OMIM:277470 {source="GARD:0003631", source="DOID:0060267", source="MONDO:e xref: Orphanet:2524 {source="MONDO:subClassOf", source="OMIM:277470", source="DOID:0060267"} xref: UMLS:C1848526 {source="OMIM:277470", source="DOID:0060267", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931528 {source="GARD:0003631", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016759 {source="MONDO:Redundant", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="MONDO:Redundant", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060267", source="MONDO:Redundant", source="OMIM:277470", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0016759 ! pontocerebellar hypoplasia type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27561 ! TSEN54 @@ -196697,14 +196661,14 @@ synonym: "VWD type 3" EXACT [DOID:0111054] synonym: "VWD, type 3" RELATED [OMIM:277480] synonym: "VWD3" EXACT ABBREVIATION [DOID:0111054, MONDO:Lexical, OMIM:277480] xref: DOID:0111054 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="DOID:0111054", source="ORDO:166096/attributed", source="ORDO:166096/ntbt", source="Orphanet:166096"} -xref: MESH:D056729 {source="MONDO:equivalentTo", source="DOID:0111054", source="ORDO:166096/e", source="Orphanet:166096"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166096/attributed", source="Orphanet:166096/ntbt", source="DOID:0111054", source="Orphanet:166096"} +xref: MESH:D056729 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"} xref: NCIT:C85213 {source="MONDO:equivalentTo"} -xref: OMIM:277480 {source="MONDO:equivalentTo", source="DOID:0111054", source="ORDO:166096/e", source="Orphanet:166096"} +xref: OMIM:277480 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"} xref: Orphanet:166096 {source="OMIM:277480", source="MONDO:equivalentTo", source="DOID:0111054"} xref: Orphanet:903 {source="MONDO:subClassOf", source="OMIM:277480"} xref: SCTID:128108002 {source="MONDO:equivalentTo"} -xref: UMLS:C1264041 {source="OMIM:277480", source="MONDO:equivalentTo", source="DOID:0111054", source="NCIT:C85213", source="ORDO:166096/e", source="Orphanet:166096"} +xref: UMLS:C1264041 {source="OMIM:277480", source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="NCIT:C85213", source="Orphanet:166096"} xref: UMLS:C1848525 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019565 {source="DC-OMIM:277480", source="DOID:0111054", source="MESH:D056729", source="NCIT:C85213", source="Orphanet:166096", source="linkedlifedata"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="MESH:D056729", source="NCIT:C85213", source="indirect", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) @@ -196763,16 +196727,16 @@ xref: DOID:14731 {source="MONDO:equivalentTo"} xref: GARD:0007878 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GTR:AN0102079 {source="UMLS:CN036342"} xref: GTR:AN0102080 {source="UMLS:CN036342"} -xref: ICD10CM:Q87.3 {source="ORDO:3447/ntbt", source="Orphanet:3447", source="ORDO:3447/inclusion"} +xref: ICD10CM:Q87.3 {source="Orphanet:3447/inclusion", source="Orphanet:3447", source="Orphanet:3447/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536687 {source="ORDO:3447/e", source="MONDO:equivalentTo", source="Orphanet:3447"} +xref: MESH:C536687 {source="MONDO:equivalentTo", source="Orphanet:3447", source="Orphanet:3447/e"} xref: MESH:C562443 {source="DOID:14731"} xref: NCIT:C125599 {source="MONDO:equivalentTo"} -xref: OMIM:277590 {source="ORDO:3447/e", source="MONDO:equivalentTo", source="Orphanet:3447", source="DOID:14731"} +xref: OMIM:277590 {source="MONDO:equivalentTo", source="Orphanet:3447", source="DOID:14731", source="Orphanet:3447/e"} xref: Orphanet:3447 {source="OMIM:277590", source="MONDO:equivalentTo"} xref: SCTID:63119004 {source="MONDO:equivalentTo"} xref: UMLS:C0220765 {source="OMIM:277590", source="MONDO:notFoundInDiseaseSubset", source="DOID:14731"} -xref: UMLS:C0265210 {source="OMIM:277590", source="ORDO:3447/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3447", source="NCIT:C125599"} +xref: UMLS:C0265210 {source="OMIM:277590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3447", source="NCIT:C125599", source="Orphanet:3447/e"} xref: UMLS:CN036342 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3447", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125599", source="indirect"} ! syndromic disease @@ -196826,17 +196790,17 @@ synonym: "WRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277700] synonym: "WS" EXACT ABBREVIATION [DOID:5688, NCIT:C3447, Orphanet:902] xref: DOID:5688 {source="MONDO:equivalentTo"} xref: GARD:0007885 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E34.8 {source="ORDO:902/index", source="ORDO:902/ntbt", source="Orphanet:902"} +xref: ICD10CM:E34.8 {source="Orphanet:902", source="Orphanet:902/index", source="Orphanet:902/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049429 {source="ORDO:902/e", source="Orphanet:902"} -xref: MESH:D014898 {source="DOID:5688", source="ORDO:902/e", source="MONDO:equivalentTo", source="Orphanet:902"} +xref: MedDRA:10049429 {source="Orphanet:902", source="Orphanet:902/e"} +xref: MESH:D014898 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"} xref: NCIT:C3447 {source="DOID:5688", source="MONDO:equivalentTo"} -xref: OMIM:277700 {source="DOID:5688", source="ORDO:902/e", source="MONDO:equivalentTo", source="Orphanet:902"} +xref: OMIM:277700 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"} xref: Orphanet:902 {source="DOID:5688", source="MONDO:equivalentTo", source="OMIM:277700"} xref: SCTID:190590004 {source="DOID:5688"} xref: SCTID:190592007 {source="DOID:5688"} xref: SCTID:51626007 {source="DOID:5688", source="MONDO:equivalentTo"} -xref: UMLS:C0043119 {source="DOID:5688", source="NCBI:mim2gene_medline", source="ORDO:902/e", source="MONDO:equivalentTo", source="Orphanet:902", source="NCIT:C3447", source="OMIM:277700"} +xref: UMLS:C0043119 {source="DOID:5688", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e", source="NCIT:C3447", source="OMIM:277700"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0006025 {source="DOID:5688", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015333 {source="Orphanet:902"} ! progeroid syndrome @@ -196858,7 +196822,7 @@ xref: MESH:C536699 {source="MONDO:equivalentTo"} xref: OMIM:277720 {source="MONDO:equivalentTo"} xref: Orphanet:2053 {source="MONDO:subClassOf", source="OMIM:277720"} xref: UMLS:C1848470 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277720"} -is_a: MONDO:0008675 {source="ORDO:2053/btnt"} ! freeman-Sheldon syndrome +is_a: MONDO:0008675 {source="Orphanet:2053/btnt"} ! freeman-Sheldon syndrome property_value: confidence "2.220446049250313E-16" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form xsd:anyURI {source="GARD:0010024"} @@ -196906,12 +196870,12 @@ subset: gard_rare {source="GARD:0010081"} subset: ordo_malformation_syndrome {source="Orphanet:2475"} synonym: "white forelock with malformations" EXACT [OMIM:277740] xref: GARD:0010081 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2475", source="ORDO:2475/attributed", source="ORDO:2475/ntbt"} -xref: MESH:C536700 {source="ORDO:2475/e", source="Orphanet:2475", source="MONDO:equivalentTo"} -xref: OMIM:277740 {source="ORDO:2475/e", source="Orphanet:2475", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:2475/attributed", source="Orphanet:2475/ntbt", source="Orphanet:2475"} +xref: MESH:C536700 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"} +xref: OMIM:277740 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"} xref: Orphanet:2475 {source="MONDO:equivalentTo", source="OMIM:277740"} xref: SCTID:763619009 {source="MONDO:equivalentTo"} -xref: UMLS:C1848463 {source="ORDO:2475/e", source="Orphanet:2475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277740"} +xref: UMLS:C1848463 {source="Orphanet:2475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277740", source="Orphanet:2475/e"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015161 {source="Orphanet:2475", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2475", source="Orphanet:2475/inferred"} ! disorder of development or morphogenesis @@ -196938,12 +196902,12 @@ synonym: "Wilson's disease" EXACT [DOID:893] synonym: "Wnd" RELATED [OMIM:277900] xref: DOID:893 {source="MONDO:equivalentTo"} xref: GARD:0007893 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.0 {source="ORDO:905/ntbt", source="Orphanet:905", source="ORDO:905/inclusion"} +xref: ICD10CM:E83.0 {source="Orphanet:905/inclusion", source="Orphanet:905/ntbt", source="Orphanet:905"} xref: ICD10CM:E83.01 {source="DOID:893"} -xref: MedDRA:10019819 {source="ORDO:905/e", source="Orphanet:905"} -xref: MESH:D006527 {source="MONDO:equivalentTo", source="ORDO:905/e", source="Orphanet:905", source="DOID:893"} +xref: MedDRA:10019819 {source="Orphanet:905/e", source="Orphanet:905"} +xref: MESH:D006527 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"} xref: NCIT:C84756 {source="MONDO:equivalentTo", source="DOID:893"} -xref: OMIM:277900 {source="MONDO:equivalentTo", source="ORDO:905/e", source="Orphanet:905", source="DOID:893"} +xref: OMIM:277900 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"} xref: Orphanet:905 {source="MONDO:equivalentTo", source="OMIM:277900"} xref: SCTID:154751003 {source="DOID:893"} xref: SCTID:190823004 {source="DOID:893"} @@ -196951,7 +196915,7 @@ xref: SCTID:191710006 {source="DOID:893"} xref: SCTID:192640001 {source="DOID:893"} xref: SCTID:267504005 {source="DOID:893"} xref: SCTID:88518009 {source="MONDO:equivalentTo", source="DOID:893"} -xref: UMLS:C0019202 {source="NCIT:C84756", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:905/e", source="Orphanet:905", source="DOID:893", source="OMIM:277900"} +xref: UMLS:C0019202 {source="Orphanet:905/e", source="NCIT:C84756", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893", source="OMIM:277900"} is_a: MONDO:0004689 {source="DOID:893", source="MESH:D006527"} ! inborn metal metabolism disorder is_a: MONDO:0005066 {source="Orphanet:905"} ! metabolic disease is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder @@ -197006,11 +196970,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:3080"} synonym: "WOLFF intellectual disability syndrome" RELATED [OMIM:277990] synonym: "WOLFF mental retardation syndrome" RELATED DEPRECATED [OMIM:277990] synonym: "Wolff-Zimmermann syndrome" EXACT [Orphanet:3080] -xref: ICD10CM:Q87.0 {source="ORDO:3080/attributed", source="ORDO:3080/ntbt", source="Orphanet:3080"} +xref: ICD10CM:Q87.0 {source="Orphanet:3080", source="Orphanet:3080/attributed", source="Orphanet:3080/ntbt"} xref: MESH:C537448 {source="MONDO:equivalentTo"} -xref: OMIM:277990 {source="MONDO:equivalentTo", source="Orphanet:3080", source="ORDO:3080/e"} +xref: OMIM:277990 {source="MONDO:equivalentTo", source="Orphanet:3080", source="Orphanet:3080/e"} xref: Orphanet:3080 {source="OMIM:277990", source="MONDO:equivalentTo"} -xref: UMLS:C1848439 {source="OMIM:277990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3080", source="ORDO:3080/e"} +xref: UMLS:C1848439 {source="OMIM:277990", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3080", source="Orphanet:3080/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3080", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:3080"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -197030,9 +196994,9 @@ synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217] synonym: "Wolman disease" RELATED [OMIM:278000] xref: DOID:0080217 {source="MONDO:equivalentTo"} xref: GARD:0012097 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.5 {source="Orphanet:275761", source="ORDO:275761/attributed", source="ORDO:275761/ntbt"} +xref: ICD10CM:E75.5 {source="Orphanet:275761/attributed", source="Orphanet:275761/ntbt", source="Orphanet:275761"} xref: MESH:C531854 {source="MONDO:equivalentTo"} -xref: OMIM:278000 {source="ORDO:275761/e", source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217"} +xref: OMIM:278000 {source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217", source="Orphanet:275761/e"} xref: Orphanet:275761 {source="OMIM:278000", source="MONDO:equivalentTo"} xref: Orphanet:75233 {source="OMIM:278000", source="MONDO:superClassOf"} xref: Orphanet:75234 {source="OMIM:278000", source="MONDO:superClassOf"} @@ -197076,8 +197040,8 @@ xref: Orphanet:55654 {source="MONDO:subClassOf", source="OMIM:278150"} xref: UMLS:C1848435 {source="OMIM:278150", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3279470 {source="OMIM:278150", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110705", source="MESH:C566950", source="MONDO:Redundant", source="OMIM:278150", source="indirect"} ! hypotrichosis -is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! isolated familial woolly hair disorder -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial woolly hair disorder +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15520 ! LPAR6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15520 {source="mim2gene_medgen"} ! LPAR6 @@ -197092,11 +197056,11 @@ synonym: "woolly hair hypotrichosis everted lower lip and outstanding ears" RELA synonym: "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [OMIM:278200] synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [Orphanet:1409] xref: GARD:0005594 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536746 {source="MONDO:equivalentTo", source="ORDO:1409/e", source="Orphanet:1409"} -xref: OMIM:278200 {source="MONDO:equivalentTo", source="ORDO:1409/e", source="Orphanet:1409"} +xref: MESH:C536746 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"} +xref: OMIM:278200 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"} xref: Orphanet:1409 {source="MONDO:equivalentTo", source="OMIM:278200"} xref: SCTID:239023005 {source="MONDO:equivalentTo"} -xref: UMLS:C0406718 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:278200", source="ORDO:1409/e", source="Orphanet:1409"} +xref: UMLS:C0406718 {source="NCBI:mim2gene_medline", source="Orphanet:1409/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:278200", source="Orphanet:1409"} is_a: MONDO:0002254 {source="Orphanet:1409"} ! syndromic disease [Term] @@ -197108,14 +197072,14 @@ synonym: "wrinkled skin syndrome" EXACT [Orphanet:2834] synonym: "wrinkly skin syndrome" EXACT [MONDO:Lexical, OMIM:278250] synonym: "WSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:278250, Orphanet:2834] xref: GARD:0000273 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:2834/attributed", source="ORDO:2834/ntbt", source="Orphanet:2834"} +xref: ICD10CM:Q82.8 {source="Orphanet:2834", source="Orphanet:2834/attributed", source="Orphanet:2834/ntbt"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="ORDO:2834/e"} -xref: OMIM:278250 {source="MONDO:equivalentTo", source="Orphanet:2834", source="ORDO:2834/e"} +xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} +xref: OMIM:278250 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} xref: Orphanet:2834 {source="OMIM:278250", source="MONDO:equivalentTo"} xref: Orphanet:357058 {source="MONDO:subClassOf", source="OMIM:278250"} xref: SCTID:238875009 {source="MONDO:equivalentTo"} -xref: UMLS:C0406587 {source="OMIM:278250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2834", source="ORDO:2834/e"} +xref: UMLS:C0406587 {source="OMIM:278250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} is_a: MONDO:0018163 {source="Orphanet:2834"} ! autosomal recessive cutis laxa type 2A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18481 {source="mim2gene_medgen"} ! ATP6V0A2 property_value: confidence "2.7853823405154197" xsd:double @@ -197140,9 +197104,9 @@ synonym: "XDH deficiency" BROAD [MESH:C562584, OMIM:278300, Orphanet:93601] synonym: "XO deficiency" BROAD [Orphanet:93601] synonym: "XOR deficiency" BROAD [Orphanet:93601] xref: GARD:0005621 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E79.8 {source="ORDO:93601/attributed", source="ORDO:93601/ntbt", source="Orphanet:93601"} +xref: ICD10CM:E79.8 {source="Orphanet:93601", source="Orphanet:93601/attributed", source="Orphanet:93601/ntbt"} xref: MESH:C562584 {source="MONDO:equivalentTo"} -xref: OMIM:278300 {source="MONDO:equivalentTo", source="ORDO:93601/e", source="Orphanet:93601"} +xref: OMIM:278300 {source="MONDO:equivalentTo", source="Orphanet:93601", source="Orphanet:93601/e"} xref: Orphanet:3467 {source="MONDO:subClassOf", source="OMIM:278300"} xref: Orphanet:93601 {source="MONDO:equivalentTo", source="OMIM:278300"} xref: SCTID:72682008 {source="MONDO:equivalentTo"} @@ -197262,7 +197226,7 @@ xref: UMLS:C1848412 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:278730 xref: UMLS:C1848413 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:278730"} xref: UMLS:C1848414 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:278730"} xref: UMLS:C1848415 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:278730"} -is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex +is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:278730", source="DOID:0110845", source="MESH:C562591", source="MONDO:Redundant", source="NCIT:C3967", source="linkedlifedata"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3434 ! ERCC2 @@ -197317,14 +197281,14 @@ synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical, OMIM:2787 synonym: "XPV" EXACT ABBREVIATION [DOID:0110847, MONDO:Lexical, OMIM:278750, Orphanet:90342] xref: DOID:0110847 {source="MONDO:equivalentTo"} xref: GARD:0005630 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.1 {source="MONDO:subClassOf", source="DOID:0110847", source="Orphanet:90342", source="ORDO:90342/attributed", source="ORDO:90342/ntbt"} -xref: MESH:C536766 {source="ORDO:90342/e", source="MONDO:equivalentTo", source="Orphanet:90342"} +xref: ICD10CM:Q82.1 {source="MONDO:subClassOf", source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/attributed", source="Orphanet:90342/ntbt"} +xref: MESH:C536766 {source="MONDO:equivalentTo", source="Orphanet:90342", source="Orphanet:90342/e"} xref: NCIT:C141367 {source="MONDO:equivalentTo"} -xref: OMIM:278750 {source="ORDO:90342/e", source="MONDO:equivalentTo", source="DOID:0110847", source="Orphanet:90342"} +xref: OMIM:278750 {source="MONDO:equivalentTo", source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/e"} xref: Orphanet:90342 {source="MONDO:equivalentTo", source="OMIM:278750"} xref: Orphanet:910 {source="MONDO:subClassOf", source="OMIM:278750"} -xref: UMLS:C0432328 {source="ORDO:90342/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90342"} -xref: UMLS:C1848410 {source="ORDO:90342/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278750", source="Orphanet:90342"} +xref: UMLS:C0432328 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90342", source="Orphanet:90342/e"} +xref: UMLS:C1848410 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278750", source="Orphanet:90342", source="Orphanet:90342/e"} is_a: MONDO:0019600 {source="DC-OMIM:278750", source="DOID:0110847", source="MESH:C536766", source="NCIT:C141367", source="Orphanet:90342"} ! xeroderma pigmentosum relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9181 {source="mim2gene_medgen"} ! POLH property_value: confidence "0.8452812500000009" xsd:double @@ -197363,7 +197327,7 @@ xref: Orphanet:910 {source="MONDO:subClassOf", source="OMIM:278760"} xref: SCTID:42530008 {source="MONDO:equivalentTo"} xref: UMLS:C0268140 {source="NCIT:C3968", source="OMIM:278760", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3806565 {source="OMIM:278760", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex +is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:278760", source="DOID:0110848", source="MESH:C562592", source="MONDO:Redundant", source="NCIT:C3968", source="linkedlifedata"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3436 ! ERCC4 @@ -197410,7 +197374,7 @@ xref: UMLS:C0268141 {source="NCIT:C3969", source="OMIM:278780", source="NCBI:mim xref: UMLS:C1851443 {source="OMIM:278780", source="MONDO:directSiblingOf"} xref: UMLS:C1968561 {source="OMIM:278780", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0008926 {source="DC-OMIM:278780"} ! COFS syndrome -is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex +is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:278780", source="DOID:0110849", source="MESH:C562593", source="MONDO:Redundant", source="NCIT:C3969", source="linkedlifedata"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3437 ! ERCC5 @@ -197453,7 +197417,7 @@ xref: DOID:0111763 {source="MONDO:equivalentTo"} xref: OMIM:278850 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="MONDO:subClassOf", source="OMIM:278850"} xref: UMLS:C2749215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:278850"} -is_a: MONDO:0100249 {source="ORDO:393/btnt"} ! 46,XX testicular disorder of sex development +is_a: MONDO:0100249 {source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.3325714285714296" xsd:double @@ -197480,14 +197444,14 @@ synonym: "Barry-Perkins-Young syndrome" RELATED [OMIM:279000] synonym: "sinusitis-infertility syndrome" RELATED [OMIM:279000] synonym: "young syndrome" EXACT [OMIM:279000] xref: GARD:0000341 {source="MONDO:equivalentTo"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:3471", source="ORDO:3471/attributed", source="ORDO:3471/ntbt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:3471/attributed", source="Orphanet:3471/ntbt", source="Orphanet:3471"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063689 {source="Orphanet:3471", source="ORDO:3471/e"} -xref: MESH:C536718 {source="MONDO:equivalentTo", source="Orphanet:3471", source="ORDO:3471/e"} -xref: OMIM:279000 {source="MONDO:equivalentTo", source="Orphanet:3471", source="ORDO:3471/e"} +xref: MedDRA:10063689 {source="Orphanet:3471/e", source="Orphanet:3471"} +xref: MESH:C536718 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"} +xref: OMIM:279000 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"} xref: Orphanet:3471 {source="OMIM:279000", source="MONDO:equivalentTo"} xref: SCTID:233666007 {source="MONDO:equivalentTo"} -xref: UMLS:C0340037 {source="OMIM:279000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3471", source="ORDO:3471/e"} +xref: UMLS:C0340037 {source="OMIM:279000", source="Orphanet:3471/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3471"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:3471"} ! respiratory system disorder is_a: MONDO:0005372 ! male infertility relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare @@ -197512,9 +197476,9 @@ synonym: "PIGL-CDG" EXACT [Orphanet:3474] synonym: "Zunich neuroectodermal syndrome" RELATED [OMIM:280000] synonym: "Zunich-Kaye syndrome" EXACT [Orphanet:3474] xref: GARD:0000310 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3474", source="ORDO:3474/attributed", source="ORDO:3474/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3474", source="Orphanet:3474/attributed", source="Orphanet:3474/ntbt"} xref: MESH:C536729 {source="MONDO:equivalentTo"} -xref: OMIM:280000 {source="Orphanet:3474", source="MONDO:equivalentTo", source="ORDO:3474/e"} +xref: OMIM:280000 {source="Orphanet:3474", source="MONDO:equivalentTo", source="Orphanet:3474/e"} xref: Orphanet:3474 {source="MONDO:equivalentTo", source="OMIM:280000"} xref: SCTID:720639008 {source="MONDO:equivalentTo"} xref: UMLS:C1848392 {source="Orphanet:3474", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:280000"} @@ -197556,8 +197520,8 @@ synonym: "X-linked Opitz BBB/G syndrome" EXACT [Orphanet:306597] synonym: "X-linked Opitz G/BBB syndrome" EXACT CLINGEN_PREFERRED [] synonym: "X-linked Opitz syndrome" EXACT [Orphanet:306597] synonym: "XLOS" EXACT ABBREVIATION [Orphanet:306597] -xref: ICD10CM:Q87.8 {source="ORDO:306597/attributed", source="ORDO:306597/ntbt", source="Orphanet:306597"} -xref: OMIM:300000 {source="MONDO:equivalentTo", source="ORDO:306597/e", source="Orphanet:306597"} +xref: ICD10CM:Q87.8 {source="Orphanet:306597/attributed", source="Orphanet:306597/ntbt", source="Orphanet:306597"} +xref: OMIM:300000 {source="Orphanet:306597/e", source="MONDO:equivalentTo", source="Orphanet:306597"} xref: Orphanet:2745 {source="MONDO:subClassOf", source="OMIM:300000"} xref: Orphanet:306597 {source="OMIM:300000", source="MONDO:equivalentTo"} xref: UMLS:C0175696 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -197577,7 +197541,7 @@ xref: MESH:C564729 {source="MONDO:equivalentTo"} xref: OMIM:300001 {source="MONDO:equivalentTo"} xref: Orphanet:461 {source="MONDO:subClassOf", source="OMIM:300001"} xref: UMLS:C1848387 {source="OMIM:300001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010622 {source="ORDO:461/btnt"} ! recessive X-linked ichthyosis +is_a: MONDO:0010622 {source="Orphanet:461/btnt"} ! recessive X-linked ichthyosis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-no-subclass-between-genetic-disease.sparql relationship: has_modifier HP:0001417 {source="OMIM:300001"} ! X-linked inheritance @@ -197596,9 +197560,9 @@ synonym: "Proud Levine Carpenter syndrome" RELATED [GARD:0004528] synonym: "Proud syndrome" EXACT [OMIM:300004, Orphanet:2508] synonym: "Proud-Levine-Carpenter syndrome" EXACT [Orphanet:2508] xref: GARD:0004528 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2508", source="ORDO:2508/attributed", source="ORDO:2508/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2508/attributed", source="Orphanet:2508/ntbt", source="Orphanet:2508"} xref: MESH:C563110 {source="MONDO:equivalentTo"} -xref: OMIM:300004 {source="MONDO:equivalentTo", source="Orphanet:2508", source="ORDO:2508/e"} +xref: OMIM:300004 {source="Orphanet:2508/e", source="MONDO:equivalentTo", source="Orphanet:2508"} xref: Orphanet:2508 {source="MONDO:equivalentTo", source="OMIM:300004"} xref: SCTID:763797003 {source="MONDO:equivalentTo"} xref: UMLS:C0796124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300004"} @@ -197620,17 +197584,17 @@ synonym: "nephrolithiasis 2" RELATED [OMIM:300009] synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622] synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] -xref: ICD10CM:N25.8 {source="ORDO:93622/attributed", source="ORDO:93622/ntbt", source="Orphanet:93622"} -xref: MESH:C538212 {source="ORDO:93622/e", source="Orphanet:93622"} -xref: OMIM:300009 {source="ORDO:93622/e", source="MONDO:equivalentTo", source="Orphanet:93622"} -xref: OMIM:300554 {source="MONDO:relatedTo", source="ORDO:93622/btnt", source="Orphanet:93622"} -xref: OMIM:308990 {source="MONDO:relatedTo", source="ORDO:93622/btnt", source="Orphanet:93622"} -xref: OMIM:310468 {source="MONDO:relatedTo", source="ORDO:93622/btnt", source="Orphanet:93622"} +xref: ICD10CM:N25.8 {source="Orphanet:93622", source="Orphanet:93622/attributed", source="Orphanet:93622/ntbt"} +xref: MESH:C538212 {source="Orphanet:93622", source="Orphanet:93622/e"} +xref: OMIM:300009 {source="MONDO:equivalentTo", source="Orphanet:93622", source="Orphanet:93622/e"} +xref: OMIM:300554 {source="MONDO:relatedTo", source="Orphanet:93622", source="Orphanet:93622/btnt"} +xref: OMIM:308990 {source="MONDO:relatedTo", source="Orphanet:93622", source="Orphanet:93622/btnt"} +xref: OMIM:310468 {source="MONDO:relatedTo", source="Orphanet:93622", source="Orphanet:93622/btnt"} xref: Orphanet:1652 {source="MONDO:subClassOf", source="OMIM:300009"} xref: Orphanet:93622 {source="MONDO:equivalentTo", source="OMIM:300009"} xref: SCTID:717789008 {source="MONDO:equivalentTo"} xref: UMLS:C0403720 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93622"} -xref: UMLS:C1848336 {source="ORDO:93622/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93622", source="OMIM:300009"} +xref: UMLS:C1848336 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93622", source="OMIM:300009", source="Orphanet:93622/e"} xref: UMLS:C4305530 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206679 {source="MONDO:equivalentTo"} is_a: MONDO:0015612 {source="DC-OMIM:300009", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622", source="linkedlifedata"} ! Dent disease @@ -197656,8 +197620,8 @@ xref: OMIM:300018 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:300018"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:300018"} xref: UMLS:C1848296 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300018"} -is_a: MONDO:0010765 {source="OMIM:300018", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0010765 {source="OMIM:300018", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7960 {source="mim2gene_medgen"} ! NR0B1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -197690,8 +197654,7 @@ id: MONDO:0010228 name: hearing loss, X-linked 3 subset: gard_rare synonym: "deafness X-linked, DFN3" NARROW [GARD:0001707] -synonym: "deafness, X-linked 3" NARROW [OMIM:300030, OMIM:genemap2] -synonym: "deafness, X-linked 3" NARROW [MONDO:Lexical, OMIM:300030] +synonym: "deafness, X-linked 3" NARROW [MONDO:Lexical, OMIM:300030, OMIM:genemap2] synonym: "deafness, X-linked 4, congenital sensorineural" NARROW [OMIM:300030] synonym: "DFNX3" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300030] xref: DOID:0111736 {source="MONDO:equivalentTo"} @@ -197720,7 +197683,7 @@ xref: SCTID:2965006 {source="MONDO:equivalentTo"} xref: UMLS:C0265992 {source="NCIT:C35790", source="OMIM:300042", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000005 {source="OMIM:300042"} ! alopecia, isolated is_a: MONDO:0004907 {source="MESH:C535981", source="MONDO:Redundant", source="NCIT:C35790", source="indirect", source="linkedlifedata"} ! alopecia -is_a: MONDO:0019080 {source="ORDO:700/btnt"} ! alopecia totalis +is_a: MONDO:0019080 {source="Orphanet:700/btnt"} ! alopecia totalis property_value: confidence "1.1064814814814814" xsd:double [Term] @@ -197772,8 +197735,8 @@ xref: Orphanet:2978 {source="MONDO:subClassOf", source="OMIM:300048"} xref: UMLS:C1848221 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2746068 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300048"} xref: UMLS:C3806579 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300048"} -is_a: MONDO:0014097 {source="ORDO:2301/btnt"} ! congenital short bowel syndrome -is_a: MONDO:0017574 {source="ORDO:2978/btnt"} ! chronic intestinal pseudoobstruction +is_a: MONDO:0014097 {source="Orphanet:2301/btnt"} ! congenital short bowel syndrome +is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3754 {source="mim2gene_medgen"} ! FLNA relationship: has_modifier MONDO:0700005 ! idiopathic relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -197852,9 +197815,9 @@ synonym: "X-linked mental retardation 79" EXACT DEPRECATED [DOID:0060827] synonym: "X-linked mental retardation with spasticity" EXACT DEPRECATED [DOID:0060827] xref: DOID:0060827 {source="MONDO:equivalentTo"} xref: GARD:0003506 {source="MONDO:equivalentTo"} -xref: ICD10CM:F71.1 {source="ORDO:3077/attributed", source="ORDO:3077/ntbt", source="Orphanet:3077", source="DOID:0060827"} +xref: ICD10CM:F71.1 {source="Orphanet:3077/attributed", source="Orphanet:3077/ntbt", source="Orphanet:3077", source="DOID:0060827"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:300055 {source="MONDO:equivalentTo", source="GARD:0003506", source="Orphanet:3077", source="DOID:0060827", source="ORDO:3077/e"} +xref: OMIM:300055 {source="Orphanet:3077/e", source="MONDO:equivalentTo", source="GARD:0003506", source="Orphanet:3077", source="DOID:0060827"} xref: Orphanet:3077 {source="OMIM:300055", source="MONDO:equivalentTo", source="GARD:0003506", source="DOID:0060827"} xref: SCTID:702356009 {source="MONDO:equivalentTo"} xref: UMLS:C0796222 {source="OMIM:300055", source="MONDO:notFoundInDiseaseSubset"} @@ -197905,13 +197868,13 @@ synonym: "plagiocephaly and X-linked intellectual disability" RELATED [GARD:0004 synonym: "plagiocephaly and X-linked mental retardation" RELATED DEPRECATED [GARD:0004377] xref: GARD:0002765 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0004377 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:2898/attributed", source="ORDO:2898/ntbt", source="Orphanet:2898"} +xref: ICD10CM:Q87.0 {source="Orphanet:2898", source="Orphanet:2898/attributed", source="Orphanet:2898/ntbt"} xref: MESH:C537512 {source="MONDO:equivalentTo"} -xref: OMIM:300064 {source="GARD:0004377", source="MONDO:equivalentTo", source="Orphanet:2898", source="ORDO:2898/e"} +xref: OMIM:300064 {source="GARD:0004377", source="MONDO:equivalentTo", source="Orphanet:2898", source="Orphanet:2898/e"} xref: Orphanet:2898 {source="OMIM:300064", source="MONDO:equivalentTo"} xref: SCTID:719812008 {source="MONDO:equivalentTo"} xref: UMLS:C1848205 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931516 {source="OMIM:300064", source="MONDO:equivalentTo", source="Orphanet:2898", source="ORDO:2898/e"} +xref: UMLS:C2931516 {source="OMIM:300064", source="MONDO:equivalentTo", source="Orphanet:2898", source="Orphanet:2898/e"} is_a: MONDO:0015159 {source="Orphanet:2898"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:2898"} ! syndromic craniosynostosis is_a: MONDO:0020119 {source="Orphanet:2898"} ! X-linked syndromic intellectual disability @@ -197968,8 +197931,8 @@ synonym: "X-linked lissencephaly type 1" EXACT [Orphanet:2148] synonym: "XLIS" RELATED ABBREVIATION [GARD:0006914] synonym: "Xlis" RELATED [OMIM:300067] xref: GARD:0006914 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:2148", source="ORDO:2148/attributed", source="ORDO:2148/ntbt"} -xref: OMIM:300067 {source="Orphanet:2148", source="ORDO:2148/e", source="GARD:0006914", source="MONDO:equivalentTo"} +xref: ICD10CM:Q04.3 {source="Orphanet:2148/attributed", source="Orphanet:2148/ntbt", source="Orphanet:2148"} +xref: OMIM:300067 {source="Orphanet:2148", source="GARD:0006914", source="MONDO:equivalentTo", source="Orphanet:2148/e"} xref: Orphanet:2148 {source="OMIM:300067", source="MONDO:equivalentTo"} xref: Orphanet:99796 {source="MONDO:subClassOf", source="OMIM:300067", source="MONDO:superClassOf"} xref: SCTID:715780008 {source="MONDO:equivalentTo"} @@ -198031,7 +197994,7 @@ xref: MESH:C537921 {source="MONDO:equivalentTo"} xref: OMIM:300073 {source="MONDO:equivalentTo"} xref: Orphanet:994 {source="MONDO:subClassOf", source="OMIM:300073"} xref: UMLS:C1848171 {source="OMIM:300073", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008824 {source="ORDO:994/btnt"} ! fetal akinesia deformation sequence +is_a: MONDO:0008824 {source="Orphanet:994/btnt"} ! fetal akinesia deformation sequence property_value: confidence "6.275000000000001" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked xsd:anyURI {source="GARD:0002293"} @@ -198047,12 +198010,12 @@ synonym: "Woods-Black-Norbury syndrome" EXACT [OMIM:300076, Orphanet:2571] synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [OMIM:300076, OMIM:genemap2] synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274] xref: GARD:0000274 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D82.8 {source="ORDO:2571/attributed", source="ORDO:2571/ntbt", source="Orphanet:2571"} +xref: ICD10CM:D82.8 {source="Orphanet:2571/attributed", source="Orphanet:2571/ntbt", source="Orphanet:2571"} xref: MESH:C536743 {source="MONDO:equivalentTo"} -xref: OMIM:300076 {source="MONDO:equivalentTo", source="Orphanet:2571", source="ORDO:2571/e"} +xref: OMIM:300076 {source="Orphanet:2571/e", source="MONDO:equivalentTo", source="Orphanet:2571"} xref: Orphanet:2571 {source="OMIM:300076", source="MONDO:equivalentTo"} xref: SCTID:719827008 {source="MONDO:equivalentTo"} -xref: UMLS:C1848144 {source="OMIM:300076", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2571", source="ORDO:2571/e"} +xref: UMLS:C1848144 {source="OMIM:300076", source="Orphanet:2571/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2571"} is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production relationship: has_modifier HP:0001417 ! X-linked inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -198062,7 +198025,6 @@ id: MONDO:0010244 name: CGF1 synonym: "CGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300082] synonym: "cognitive function 1, social" EXACT [MONDO:Lexical, OMIM:300082] -synonym: "social cognition" EXACT [OMIM:300082] synonym: "social cognition" EXACT [OMIM:300082, OMIM:genemap2] xref: OMIM:300082 {source="MONDO:equivalentTo"} xref: UMLS:C1848140 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300082"} @@ -198129,7 +198091,7 @@ synonym: "PCDH19-related infantile epileptic encephalopathy" RELATED [GARD:00108 xref: DOID:0060848 {source="MONDO:equivalentTo"} xref: GARD:0010806 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C564715 {source="MONDO:equivalentTo"} -xref: OMIM:300088 {source="ORDO:101039/e", source="MONDO:equivalentTo", source="Orphanet:101039", source="DOID:0060848"} +xref: OMIM:300088 {source="MONDO:equivalentTo", source="Orphanet:101039", source="DOID:0060848", source="Orphanet:101039/e"} xref: Orphanet:101039 {source="OMIM:300088", source="MONDO:equivalentTo", source="DOID:0060848"} xref: UMLS:C1848137 {source="NCBI:mim2gene_medline", source="OMIM:300088", source="MONDO:equivalentTo", source="Orphanet:101039"} is_a: MONDO:0016160 {source="Orphanet:101039"} ! X-linked intellectual disability-epilepsy syndrome @@ -198160,8 +198122,8 @@ synonym: "melanodermic leukodystrophy" RELATED [OMIM:300100] synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100] synonym: "X-linked cerebral adrenoleukodystrophy" EXACT CLINGEN_PREFERRED [Orphanet:139396] xref: GARD:0009412 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="ORDO:139396/attributed", source="ORDO:139396/ntbt", source="Orphanet:139396"} -xref: OMIM:300100 {source="MONDO:subClassOf", source="ORDO:139396/ntbt", source="Orphanet:139396", source="GARD:0009412"} +xref: ICD10CM:E71.3 {source="Orphanet:139396", source="Orphanet:139396/attributed", source="Orphanet:139396/ntbt"} +xref: OMIM:300100 {source="MONDO:subClassOf", source="Orphanet:139396", source="Orphanet:139396/ntbt", source="GARD:0009412"} xref: Orphanet:139396 {source="OMIM:300100", source="MONDO:equivalentTo", source="GARD:0009412"} xref: Orphanet:139399 {source="OMIM:300100", source="MONDO:superClassOf"} xref: Orphanet:43 {source="MONDO:subClassOf", source="OMIM:300100"} @@ -198188,9 +198150,9 @@ synonym: "spondyloepimetaphyseal dysplasia X-linked" RELATED [GARD:0004979] synonym: "spondyloepimetaphyseal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:300106] synonym: "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" EXACT [OMIM:300106, OMIM:genemap2] xref: GARD:0004979 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:93349/attributed", source="ORDO:93349/ntbt", source="Orphanet:93349"} +xref: ICD10CM:Q77.7 {source="Orphanet:93349/attributed", source="Orphanet:93349/ntbt", source="Orphanet:93349"} xref: MESH:C564714 {source="MONDO:equivalentTo"} -xref: OMIM:300106 {source="MONDO:equivalentTo", source="ORDO:93349/e", source="Orphanet:93349"} +xref: OMIM:300106 {source="Orphanet:93349/e", source="MONDO:equivalentTo", source="Orphanet:93349"} xref: Orphanet:93349 {source="MONDO:equivalentTo", source="OMIM:300106"} xref: UMLS:C1848097 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300106", source="Orphanet:93349"} is_a: MONDO:0016761 {source="DC-OMIM:300106", source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:93349"} ! spondyloepiphyseal dysplasia @@ -198359,14 +198321,14 @@ synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-mic synonym: "X-linked MEHMO syndrome" RELATED [GARD:0009178] xref: DOID:0060801 {source="MONDO:equivalentTo"} xref: GARD:0009178 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:85282/attributed", source="ORDO:85282/ntbt", source="Orphanet:85282", source="DOID:0060801"} -xref: MESH:C537451 {source="MONDO:equivalentTo", source="ORDO:85282/e", source="Orphanet:85282", source="DOID:0060801"} -xref: OMIM:300148 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="ORDO:85282/e", source="Orphanet:85282", source="DOID:0060801"} +xref: ICD10CM:Q87.8 {source="Orphanet:85282", source="DOID:0060801", source="Orphanet:85282/attributed", source="Orphanet:85282/ntbt"} +xref: MESH:C537451 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="Orphanet:85282", source="DOID:0060801"} +xref: OMIM:300148 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:85282", source="DOID:0060801"} xref: OMIM:300987 {source="MONDO:equivalentTo"} xref: Orphanet:85282 {source="MONDO:equivalentTo", source="OMIM:300148", source="DOID:0060801"} xref: SCTID:722037004 {source="MONDO:equivalentTo"} xref: UMLS:C1846278 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300148", source="Orphanet:85282"} -xref: UMLS:C2931496 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:85282/e", source="Orphanet:85282", source="DOID:0060801"} +xref: UMLS:C2931496 {source="Orphanet:85282/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85282", source="DOID:0060801"} xref: UMLS:C4310813 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} is_a: MONDO:0016565 {source="Orphanet:85282"} ! syndromic genetic obesity is_a: MONDO:0020119 {source="DC-OMIM:300148", source="DC-OMIM:300987", source="DOID:0060801", source="OMIM:300148", source="Orphanet:85282"} ! X-linked syndromic intellectual disability @@ -198427,16 +198389,16 @@ synonym: "oculofaciocardiodental syndrome" EXACT [OMIM:300166] synonym: "OFCD syndrome" EXACT [OMIM:300166, Orphanet:2712] synonym: "syndromic microphthalmia type 2" RELATED [GARD:0004628] xref: GARD:0004628 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2712/attributed", source="ORDO:2712/ntbt", source="Orphanet:2712"} +xref: ICD10CM:Q87.8 {source="Orphanet:2712", source="Orphanet:2712/attributed", source="Orphanet:2712/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537465 {source="ORDO:2712/e", source="Orphanet:2712"} -xref: MESH:C537735 {source="ORDO:2712/e", source="Orphanet:2712"} +xref: MESH:C537465 {source="Orphanet:2712", source="Orphanet:2712/e"} +xref: MESH:C537735 {source="Orphanet:2712", source="Orphanet:2712/e"} xref: OMIM:300166 {source="MONDO:equivalentTo"} xref: Orphanet:2712 {source="OMIM:300166", source="MONDO:equivalentTo"} xref: Orphanet:568 {source="OMIM:300166", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: SCTID:699300009 {source="MONDO:equivalentTo"} -xref: UMLS:C1846265 {source="OMIM:300166", source="NCBI:mim2gene_medline", source="ORDO:2712/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2712"} -xref: UMLS:C2931601 {source="ORDO:2712/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2712"} +xref: UMLS:C1846265 {source="OMIM:300166", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2712", source="Orphanet:2712/e"} +xref: UMLS:C2931601 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2712", source="Orphanet:2712/e"} is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015159 {source="Orphanet:2712"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016073 {source="DC-OMIM:300166", source="OMIM:300166", source="Orphanet:2712"} ! syndromic microphthalmia @@ -198471,9 +198433,9 @@ synonym: "AMME syndrome" EXACT [Orphanet:86818] synonym: "ATS-MR" EXACT [Orphanet:86818] synonym: "Ats-Mr" RELATED [OMIM:300194] synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [OMIM:300194] -xref: ICD10CM:Q87.8 {source="ORDO:86818/attributed", source="ORDO:86818/ntbt", source="Orphanet:86818"} +xref: ICD10CM:Q87.8 {source="Orphanet:86818/attributed", source="Orphanet:86818/ntbt", source="Orphanet:86818"} xref: MESH:C564570 {source="MONDO:equivalentTo"} -xref: OMIM:300194 {source="MONDO:equivalentTo", source="ORDO:86818/e", source="Orphanet:86818"} +xref: OMIM:300194 {source="Orphanet:86818/e", source="MONDO:equivalentTo", source="Orphanet:86818"} xref: OMIM:300990 {source="MONDO:superClassOf", source="Orphanet:86818"} xref: Orphanet:86818 {source="OMIM:300194", source="MONDO:equivalentTo"} xref: SCTID:720982007 {source="MONDO:equivalentTo"} @@ -198509,10 +198471,10 @@ synonym: "X-linked AHC" RELATED [GARD:0000555] synonym: "X-linked congenital adrenal hypoplasia" EXACT [Orphanet:95702] xref: DOID:0080156 {source="MONDO:equivalentTo"} xref: GARD:0000555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E27.1 {source="ORDO:95702/attributed", source="ORDO:95702/ntbt", source="Orphanet:95702"} +xref: ICD10CM:E27.1 {source="Orphanet:95702", source="Orphanet:95702/attributed", source="Orphanet:95702/ntbt"} xref: NCIT:C123725 {source="MONDO:equivalentTo"} -xref: OMIM:202155 {source="ORDO:95702/btnt", source="MONDO:superClassOf", source="Orphanet:95702"} -xref: OMIM:300200 {source="DOID:0080156", source="MONDO:equivalentTo", source="ORDO:95702/e", source="Orphanet:95702"} +xref: OMIM:202155 {source="MONDO:superClassOf", source="Orphanet:95702", source="Orphanet:95702/btnt"} +xref: OMIM:300200 {source="DOID:0080156", source="MONDO:equivalentTo", source="Orphanet:95702", source="Orphanet:95702/e"} xref: Orphanet:95702 {source="MONDO:equivalentTo", source="OMIM:300200"} xref: SCTID:93235007 {source="MONDO:equivalentTo"} xref: UMLS:C0220766 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300200", source="Orphanet:95702"} @@ -198546,9 +198508,9 @@ synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" EXACT [MOND synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [OMIM:300209] synonym: "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" EXACT [OMIM:300209, OMIM:genemap2] xref: DOID:0080342 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="ORDO:79022/attributed", source="ORDO:79022/ntbt", source="Orphanet:79022"} +xref: ICD10CM:Q87.3 {source="Orphanet:79022/attributed", source="Orphanet:79022/ntbt", source="Orphanet:79022"} xref: MESH:C564567 {source="MONDO:equivalentTo"} -xref: OMIM:300209 {source="DOID:0080342", source="MONDO:equivalentTo", source="ORDO:79022/e", source="Orphanet:79022"} +xref: OMIM:300209 {source="Orphanet:79022/e", source="DOID:0080342", source="MONDO:equivalentTo", source="Orphanet:79022"} xref: Orphanet:79022 {source="MONDO:equivalentTo", source="OMIM:300209"} xref: UMLS:C1846175 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79022", source="OMIM:300209"} is_a: MONDO:0010731 {source="DC-OMIM:300209", source="MONDO:Redundant"} ! Simpson-Golabi-Behmel syndrome @@ -198612,9 +198574,9 @@ synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT synonym: "XLAG syndrome" RELATED [GARD:0012491] synonym: "Xlisg" RELATED [OMIM:300215] xref: GARD:0012491 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:452/attributed", source="ORDO:452/ntbt", source="Orphanet:452"} +xref: ICD10CM:Q04.3 {source="Orphanet:452/attributed", source="Orphanet:452/ntbt", source="Orphanet:452"} xref: MESH:C564563 {source="MONDO:equivalentTo"} -xref: OMIM:300215 {source="MONDO:equivalentTo", source="ORDO:452/e", source="Orphanet:452"} +xref: OMIM:300215 {source="Orphanet:452/e", source="MONDO:equivalentTo", source="Orphanet:452"} xref: Orphanet:452 {source="MONDO:equivalentTo", source="OMIM:300215"} xref: SCTID:717632002 {source="MONDO:equivalentTo"} xref: UMLS:C1846171 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300215", source="Orphanet:452"} @@ -198646,19 +198608,19 @@ synonym: "Leber miliary aneurysm" EXACT [Orphanet:190] synonym: "retinal telangiectasis" RELATED [OMIM:300216] xref: DOID:7765 {source="MONDO:equivalentTo"} xref: GARD:0006121 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.0 {source="Orphanet:190", source="ORDO:190/inclusion", source="ORDO:190/ntbt"} +xref: ICD10CM:H35.0 {source="Orphanet:190/inclusion", source="Orphanet:190/ntbt", source="Orphanet:190"} xref: ICD10CM:H35.02 {source="DOID:7765"} xref: ICD10CM:H35.07 {source="DOID:7765"} xref: ICD9:362.12 {source="DOID:7765"} -xref: MedDRA:10015901 {source="ORDO:190/e", source="Orphanet:190"} -xref: MESH:D058456 {source="ORDO:190/e", source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo"} -xref: OMIM:300216 {source="ORDO:190/e", source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo"} +xref: MedDRA:10015901 {source="Orphanet:190", source="Orphanet:190/e"} +xref: MESH:D058456 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"} +xref: OMIM:300216 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"} xref: Orphanet:190 {source="MONDO:equivalentTo", source="OMIM:300216"} xref: SCTID:193359003 {source="DOID:7765"} xref: SCTID:193360008 {source="DOID:7765"} xref: SCTID:25506007 {source="DOID:7765"} xref: SCTID:360455002 {source="DOID:7765", source="MONDO:equivalentTo"} -xref: UMLS:C0154832 {source="ORDO:190/e", source="DOID:7765", source="NCBI:mim2gene_medline", source="Orphanet:190", source="MONDO:equivalentTo", source="OMIM:300216"} +xref: UMLS:C0154832 {source="DOID:7765", source="NCBI:mim2gene_medline", source="Orphanet:190", source="MONDO:equivalentTo", source="OMIM:300216", source="Orphanet:190/e"} is_a: MONDO:0004348 {source="DOID:7765", source="linkedlifedata"} ! retinal telangiectasia is_a: MONDO:0015953 {source="Orphanet:190"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0020216 {source="MONDO:0020221-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! secondary dysgenetic glaucoma @@ -198688,12 +198650,12 @@ synonym: "syndromic X-linked intellectual disability type 7" EXACT [DOID:0060808 synonym: "X-linked intellectual disability, Ahmad type" EXACT [DOID:0060808, Orphanet:85274] xref: DOID:0060808 {source="MONDO:equivalentTo"} xref: GARD:0009156 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="DOID:0060808", source="ORDO:85274/attributed", source="ORDO:85274/ntbt", source="Orphanet:85274"} -xref: MESH:C537449 {source="DOID:0060808", source="MONDO:equivalentTo", source="ORDO:85274/e", source="Orphanet:85274"} -xref: OMIM:300218 {source="DOID:0060808", source="MONDO:equivalentTo", source="ORDO:85274/e", source="Orphanet:85274"} +xref: ICD10CM:Q87.8 {source="DOID:0060808", source="Orphanet:85274/attributed", source="Orphanet:85274/ntbt", source="Orphanet:85274"} +xref: MESH:C537449 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"} +xref: OMIM:300218 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"} xref: Orphanet:85274 {source="DOID:0060808", source="MONDO:equivalentTo", source="OMIM:300218"} xref: SCTID:719160009 {source="MONDO:equivalentTo"} -xref: UMLS:C1846170 {source="DOID:0060808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85274/e", source="OMIM:300218", source="Orphanet:85274"} +xref: UMLS:C1846170 {source="DOID:0060808", source="NCBI:mim2gene_medline", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="OMIM:300218", source="Orphanet:85274"} xref: UMLS:C4304916 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:85274"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300218", source="DOID:0060808", source="OMIM:300218", source="Orphanet:85274"} ! X-linked syndromic intellectual disability @@ -198707,7 +198669,7 @@ subset: ordo_disease {source="Orphanet:456328"} synonym: "myotubular myopathy with abnormal genital development" RELATED [OMIM:300219] synonym: "Xq28 contiguous gene deletion syndrome" EXACT [Orphanet:456328] xref: MESH:C564561 {source="MONDO:equivalentTo"} -xref: OMIM:300219 {source="ORDO:456328/e", source="MONDO:equivalentTo", source="Orphanet:456328"} +xref: OMIM:300219 {source="MONDO:equivalentTo", source="Orphanet:456328", source="Orphanet:456328/e"} xref: Orphanet:456328 {source="MONDO:equivalentTo"} xref: UMLS:C1846169 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300219"} is_a: MONDO:0005151 ! endocrine system disorder @@ -198770,11 +198732,11 @@ synonym: "spondyloepimetaphyseal dysplasia x-linked with mental deterioration" R synonym: "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" EXACT [OMIM:300232, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232] xref: GARD:0004891 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="ORDO:83629/attributed", source="ORDO:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"} -xref: ICD10CM:Q77.7 {source="ORDO:168448/attributed", source="ORDO:168448/ntbt", source="Orphanet:168448"} +xref: ICD10CM:G11.4 {source="Orphanet:83629/attributed", source="Orphanet:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"} +xref: ICD10CM:Q77.7 {source="Orphanet:168448", source="Orphanet:168448/attributed", source="Orphanet:168448/ntbt"} xref: MESH:C536671 {source="MONDO:equivalentTo"} xref: MESH:C567065 {source="MONDO:equivalentTo"} -xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="ORDO:168448/e"} +xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="Orphanet:168448/e"} xref: Orphanet:168448 {source="OMIM:300232", source="MONDO:equivalentTo"} xref: Orphanet:83629 {source="MONDO:relatedTo", source="OMIM:300660"} xref: UMLS:C1846148 {source="OMIM:300232", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -198816,9 +198778,9 @@ synonym: "X-linked intellectual disability, Shashi type" RELATED [Orphanet:85286 synonym: "X-linked mental retardation Shashi type" EXACT DEPRECATED [DOID:0060826] xref: DOID:0060826 {source="MONDO:equivalentTo"} xref: GARD:0004119 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="DOID:0060826", source="ORDO:85286/attributed", source="ORDO:85286/ntbt", source="Orphanet:85286"} +xref: ICD10CM:Q87.8 {source="Orphanet:85286/attributed", source="Orphanet:85286/ntbt", source="DOID:0060826", source="Orphanet:85286"} xref: MESH:C537135 {source="MONDO:equivalentTo"} -xref: OMIM:300238 {source="MONDO:equivalentTo", source="DOID:0060826", source="ORDO:85286/e", source="Orphanet:85286"} +xref: OMIM:300238 {source="Orphanet:85286/e", source="MONDO:equivalentTo", source="DOID:0060826", source="Orphanet:85286"} xref: Orphanet:85286 {source="MONDO:equivalentTo", source="OMIM:300238", source="DOID:0060826"} xref: SCTID:718900002 {source="MONDO:equivalentTo"} xref: UMLS:C1846145 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300238"} @@ -198855,14 +198817,14 @@ synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060 synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825, Orphanet:85278] xref: DOID:0060825 {source="MONDO:equivalentTo"} xref: GARD:0010572 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85278", source="DOID:0060825", source="ORDO:85278/attributed", source="ORDO:85278/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85278/attributed", source="Orphanet:85278/ntbt", source="Orphanet:85278", source="DOID:0060825"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537450 {source="Orphanet:85278", source="DOID:0060825", source="ORDO:85278/e"} +xref: MESH:C537450 {source="Orphanet:85278", source="Orphanet:85278/e", source="DOID:0060825"} xref: MESH:C567484 {source="MONDO:equivalentTo"} -xref: OMIM:300243 {source="Orphanet:85278", source="MONDO:equivalentTo", source="DOID:0060825", source="ORDO:85278/e"} +xref: OMIM:300243 {source="Orphanet:85278", source="MONDO:equivalentTo", source="Orphanet:85278/e", source="DOID:0060825"} xref: Orphanet:85278 {source="OMIM:300243", source="MONDO:equivalentTo", source="DOID:0060825"} xref: SCTID:702354007 {source="MONDO:equivalentTo"} -xref: UMLS:C1846130 {source="Orphanet:85278", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060825", source="ORDO:85278/e"} +xref: UMLS:C1846130 {source="Orphanet:85278", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85278/e", source="DOID:0060825"} xref: UMLS:C2678194 {source="Orphanet:85278", source="OMIM:300243", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:85278"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016612 {source="Orphanet:85278"} ! X-linked cerebellar ataxia @@ -198884,9 +198846,9 @@ synonym: "terminal osseous dysplasia" RELATED [MONDO:Lexical, OMIM:300244] synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [OMIM:300244] synonym: "terminal osseous dysplasia, X-linked dominant" EXACT [OMIM:300244, OMIM:genemap2] synonym: "TOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300244] -xref: ICD10CM:Q87.2 {source="ORDO:88630/attributed", source="ORDO:88630/ntbt", source="Orphanet:88630"} +xref: ICD10CM:Q87.2 {source="Orphanet:88630/attributed", source="Orphanet:88630/ntbt", source="Orphanet:88630"} xref: MESH:C564554 {source="MONDO:equivalentTo"} -xref: OMIM:300244 {source="MONDO:equivalentTo", source="ORDO:88630/e", source="Orphanet:88630"} +xref: OMIM:300244 {source="Orphanet:88630/e", source="MONDO:equivalentTo", source="Orphanet:88630"} xref: Orphanet:88630 {source="MONDO:equivalentTo", source="OMIM:300244"} xref: UMLS:C1846129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300244", source="Orphanet:88630"} is_a: MONDO:0019289 {source="Orphanet:88630"} ! hyperpigmentation of the skin @@ -198908,7 +198870,7 @@ xref: MESH:C564553 {source="MONDO:equivalentTo"} xref: OMIM:300245 {source="MONDO:equivalentTo"} xref: Orphanet:91411 {source="MONDO:subClassOf", source="OMIM:300245"} xref: UMLS:C1846128 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300245"} -is_a: MONDO:0008340 {source="ORDO:91411/btnt"} ! congenital ptosis +is_a: MONDO:0008340 {source="Orphanet:91411/btnt"} ! congenital ptosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.19471518930725118" xsd:double @@ -198947,11 +198909,11 @@ synonym: "X-linked vacuolar cardiomyopathy and myopathy" RELATED [GARD:0009730] xref: DOID:0050437 {source="MONDO:equivalentTo"} xref: EFO:1001333 {source="MONDO:equivalentTo"} xref: GARD:0009730 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:34587/attributed", source="ORDO:34587/ntbt", source="Orphanet:34587"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:34587/attributed", source="Orphanet:34587/ntbt", source="Orphanet:34587"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D052120 {source="MONDO:equivalentTo", source="DOID:0050437"} xref: NCIT:C84735 {source="MONDO:equivalentTo", source="DOID:0050437"} -xref: OMIM:300257 {source="MONDO:equivalentTo", source="DOID:0050437", source="ORDO:34587/e", source="Orphanet:34587"} +xref: OMIM:300257 {source="Orphanet:34587/e", source="MONDO:equivalentTo", source="DOID:0050437", source="Orphanet:34587"} xref: Orphanet:34587 {source="MONDO:equivalentTo", source="OMIM:300257"} xref: SCTID:419097006 {source="MONDO:equivalentTo", source="DOID:0050437"} xref: UMLS:C0878677 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050437", source="OMIM:300257", source="Orphanet:34587"} @@ -199008,16 +198970,16 @@ synonym: "XLMR syndrome, Lubs type" RELATED [GARD:0009781] xref: DOID:0060799 {source="MONDO:equivalentTo"} xref: GARD:0009781 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:Q87.8 {source="DOID:0060799"} -xref: ICD10CM:Q99.8 {source="Orphanet:1762", source="ORDO:1762/attributed", source="ORDO:1762/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:1762/attributed", source="Orphanet:1762/ntbt", source="Orphanet:1762"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537723 {source="ORDO:1762/e", source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799"} +xref: MESH:C537723 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="Orphanet:1762/e"} xref: NCIT:C126747 {source="MONDO:equivalentTo"} xref: OMIM:300260 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799"} -xref: OMIM:300815 {source="Orphanet:1762", source="MONDO:superClassOf", source="ORDO:1762/btnt"} +xref: OMIM:300815 {source="Orphanet:1762/btnt", source="Orphanet:1762", source="MONDO:superClassOf"} xref: Orphanet:1762 {source="MONDO:equivalentTo"} xref: Orphanet:85281 {source="OMIM:300260", source="DOID:0060799"} xref: SCTID:702816000 {source="MONDO:equivalentTo"} -xref: UMLS:C1846058 {source="OMIM:300260", source="ORDO:1762/e", source="NCBI:mim2gene_medline", source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="NCIT:C126747"} +xref: UMLS:C1846058 {source="OMIM:300260", source="NCBI:mim2gene_medline", source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="Orphanet:1762/e", source="NCIT:C126747"} xref: UMLS:C3714043 {source="Orphanet:1762", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C126747", source="indirect"} ! syndromic disease @@ -199049,9 +199011,9 @@ synonym: "syndromic X-linked intellectual disability Armfield type" EXACT [DOID: synonym: "syndromic X-linked mental retardation Armfield type" EXACT DEPRECATED [DOID:0050764] synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764] xref: DOID:0050764 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85276", source="DOID:0050764", source="ORDO:85276/attributed", source="ORDO:85276/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85276", source="DOID:0050764", source="Orphanet:85276/attributed", source="Orphanet:85276/ntbt"} xref: MESH:C564551 {source="MONDO:equivalentTo"} -xref: OMIM:300261 {source="Orphanet:85276", source="DOID:0050764", source="MONDO:equivalentTo", source="ORDO:85276/e"} +xref: OMIM:300261 {source="Orphanet:85276", source="DOID:0050764", source="MONDO:equivalentTo", source="Orphanet:85276/e"} xref: Orphanet:85276 {source="OMIM:300261", source="DOID:0050764", source="MONDO:equivalentTo"} xref: SCTID:719017003 {source="MONDO:equivalentTo"} xref: UMLS:C1846057 {source="OMIM:300261", source="Orphanet:85276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -199079,11 +199041,11 @@ synonym: "syndromic X-linked mental retardation Abidi type" EXACT DEPRECATED [DO synonym: "X-linked intellectual disability, Abidi type" RELATED [Orphanet:85273] xref: DOID:0060818 {source="MONDO:equivalentTo"} xref: GARD:0009157 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:85273/attributed", source="ORDO:85273/ntbt", source="DOID:0060818", source="Orphanet:85273"} -xref: MESH:C535556 {source="DOID:0060818", source="MONDO:equivalentTo", source="ORDO:85273/e", source="Orphanet:85273"} -xref: OMIM:300262 {source="DOID:0060818", source="MONDO:equivalentTo", source="ORDO:85273/e", source="Orphanet:85273"} +xref: ICD10CM:Q87.8 {source="DOID:0060818", source="Orphanet:85273/attributed", source="Orphanet:85273/ntbt", source="Orphanet:85273"} +xref: MESH:C535556 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"} +xref: OMIM:300262 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"} xref: Orphanet:85273 {source="DOID:0060818", source="OMIM:300262", source="MONDO:equivalentTo"} -xref: UMLS:C1846056 {source="DOID:0060818", source="OMIM:300262", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85273/e", source="Orphanet:85273"} +xref: UMLS:C1846056 {source="DOID:0060818", source="Orphanet:85273/e", source="OMIM:300262", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85273"} is_a: MONDO:0015159 {source="Orphanet:85273"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300262", source="DOID:0060818", source="OMIM:300262", source="Orphanet:85273"} ! X-linked syndromic intellectual disability property_value: confidence "22.0" xsd:double @@ -199111,11 +199073,11 @@ synonym: "X-linked intellectual disability, Siderius type" RELATED [Orphanet:852 synonym: "X-linked mental retardation Hamel type" RELATED DEPRECATED [GARD:0009704] xref: DOID:0060812 {source="MONDO:equivalentTo"} xref: GARD:0009704 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:85287", source="DOID:0060812", source="ORDO:85287/attributed", source="ORDO:85287/ntbt"} -xref: MESH:C537333 {source="Orphanet:85287", source="MONDO:equivalentTo", source="DOID:0060812", source="ORDO:85287/e"} -xref: OMIM:300263 {source="Orphanet:85287", source="MONDO:equivalentTo", source="DOID:0060812", source="ORDO:85287/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:85287", source="Orphanet:85287/attributed", source="Orphanet:85287/ntbt", source="DOID:0060812"} +xref: MESH:C537333 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} +xref: OMIM:300263 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} xref: Orphanet:85287 {source="OMIM:300263", source="MONDO:equivalentTo", source="DOID:0060812"} -xref: UMLS:C1846055 {source="Orphanet:85287", source="OMIM:300263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060812", source="ORDO:85287/e"} +xref: UMLS:C1846055 {source="Orphanet:85287", source="OMIM:300263", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"} is_a: MONDO:0015159 {source="Orphanet:85287"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300263", source="DOID:0060812", source="OMIM:300263", source="Orphanet:85287"} ! X-linked syndromic intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20672 {source="mim2gene_medgen"} ! PHF8 @@ -199136,11 +199098,11 @@ synonym: "X-linked spastic paraplegia 16" EXACT [DOID:0110769] synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769] xref: DOID:0110769 {source="MONDO:equivalentTo"} xref: GARD:0009585 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110769", source="ORDO:100997/attributed", source="ORDO:100997/ntbt", source="Orphanet:100997"} -xref: MESH:C536643 {source="MONDO:equivalentTo", source="ORDO:100997/e", source="Orphanet:100997"} -xref: OMIM:300266 {source="DOID:0110769", source="MONDO:equivalentTo", source="ORDO:100997/e", source="Orphanet:100997"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110769", source="Orphanet:100997", source="Orphanet:100997/attributed", source="Orphanet:100997/ntbt"} +xref: MESH:C536643 {source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"} +xref: OMIM:300266 {source="DOID:0110769", source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"} xref: Orphanet:100997 {source="DOID:0110769", source="MONDO:equivalentTo", source="OMIM:300266"} -xref: UMLS:C1846046 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:100997/e", source="OMIM:300266", source="Orphanet:100997"} +xref: UMLS:C1846046 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300266", source="Orphanet:100997", source="Orphanet:100997/e"} is_a: MONDO:0017916 {source="Orphanet:100997"} ! pure or complex X-linked spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110769", source="MESH:C536643", source="MONDO:Redundant", source="OMIM:300266", source="Orphanet:100997/inferred"} ! hereditary spastic paraplegia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -199153,11 +199115,11 @@ def: "Adrenomyodystrophy is an extremely rare genetic endocrine disease characte subset: ordo_disease {source="Orphanet:977"} synonym: "adrenomyodystrophy" EXACT [OMIM:300270] xref: GARD:0000562 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C538051 {source="ORDO:977/e", source="Orphanet:977", source="MONDO:equivalentTo"} -xref: OMIM:300270 {source="ORDO:977/e", source="Orphanet:977", source="MONDO:equivalentTo"} +xref: MESH:C538051 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} +xref: OMIM:300270 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: Orphanet:977 {source="MONDO:equivalentTo", source="OMIM:300270"} xref: SCTID:763311001 {source="MONDO:equivalentTo"} -xref: UMLS:C1846044 {source="ORDO:977/e", source="Orphanet:977", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300270"} +xref: UMLS:C1846044 {source="Orphanet:977", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:977/e", source="OMIM:300270"} is_a: MONDO:0005495 {source="Orphanet:977", source="Orphanet:977/inferred"} ! adrenal gland disorder relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:977"} ! chronic primary adrenal insufficiency relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare @@ -199234,11 +199196,11 @@ synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT: synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] synonym: "Xhm-Ed" RELATED [OMIM:300291] xref: GARD:0009936 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D82.8 {source="ORDO:98813/attributed", source="ORDO:98813/ntbt", source="Orphanet:98813"} +xref: ICD10CM:D82.8 {source="Orphanet:98813", source="Orphanet:98813/attributed", source="Orphanet:98813/ntbt"} xref: MESH:C536181 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C118844 {source="MONDO:equivalentTo"} -xref: OMIM:300291 {source="ORDO:98813/e", source="Orphanet:98813", source="MONDO:superClassOf"} -xref: OMIM:612132 {source="ORDO:98813/btnt", source="Orphanet:98813", source="MONDO:superClassOf"} +xref: OMIM:300291 {source="Orphanet:98813", source="MONDO:superClassOf", source="Orphanet:98813/e"} +xref: OMIM:612132 {source="Orphanet:98813", source="MONDO:superClassOf", source="Orphanet:98813/btnt"} xref: OMIMPS:300291 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:300291"} xref: Orphanet:98813 {source="MONDO:equivalentTo", source="OMIM:300291"} @@ -199264,9 +199226,9 @@ synonym: "severe congenital neutropenia, X-linked" EXACT [MONDO:patterns/x_linke synonym: "X-linked severe congenital neutropenia" EXACT CLINGEN_PREFERRED [] synonym: "Xln" RELATED [OMIM:300299] xref: GARD:0003981 {source="MONDO:equivalentTo"} -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:86788", source="ORDO:86788/attributed", source="ORDO:86788/ntbt"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:86788/attributed", source="Orphanet:86788/ntbt", source="Orphanet:86788"} xref: MESH:C564539 {source="MONDO:equivalentTo"} -xref: OMIM:300299 {source="ORDO:86788/e", source="Orphanet:86788", source="MONDO:equivalentTo"} +xref: OMIM:300299 {source="Orphanet:86788", source="MONDO:equivalentTo", source="Orphanet:86788/e"} xref: Orphanet:86788 {source="MONDO:equivalentTo", source="OMIM:300299"} xref: SCTID:718882006 {source="MONDO:equivalentTo"} xref: UMLS:C1845987 {source="Orphanet:86788", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300299"} @@ -199287,9 +199249,9 @@ subset: ordo_disease {source="Orphanet:69088"} synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical, OMIM:300301] synonym: "ol-EDA-ID" EXACT [Orphanet:69088] synonym: "OLEDAID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300301] -xref: ICD10CM:Q78.2 {source="ORDO:69088/attributed", source="ORDO:69088/ntbt", source="Orphanet:69088"} +xref: ICD10CM:Q78.2 {source="Orphanet:69088", source="Orphanet:69088/attributed", source="Orphanet:69088/ntbt"} xref: MESH:C564538 {source="MONDO:equivalentTo"} -xref: OMIM:300301 {source="MONDO:equivalentTo", source="ORDO:69088/e", source="Orphanet:69088"} +xref: OMIM:300301 {source="MONDO:equivalentTo", source="Orphanet:69088", source="Orphanet:69088/e"} xref: Orphanet:69088 {source="MONDO:equivalentTo", source="OMIM:300301"} xref: SCTID:720986005 {source="MONDO:equivalentTo"} xref: UMLS:C1845919 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:69088", source="OMIM:300301"} @@ -199375,13 +199337,13 @@ synonym: "X-linked hyperuricemia" EXACT [DOID:1919] synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919] xref: DOID:1919 {source="MONDO:equivalentTo"} xref: GARD:0007226 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="ORDO:510/specific", source="ORDO:510/e"} +xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e", source="Orphanet:510/specific"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10057589 {source="Orphanet:510", source="ORDO:510/e"} -xref: MESH:D007926 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="ORDO:510/e"} +xref: MedDRA:10057589 {source="Orphanet:510", source="Orphanet:510/e"} +xref: MESH:D007926 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e"} xref: NCIT:C61255 {source="DOID:1919", source="MONDO:equivalentTo"} -xref: OMIM:300322 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="ORDO:510/e"} -xref: OMIM:308950 {source="Orphanet:510", source="MONDO:superClassOf", source="ORDO:510/nd"} +xref: OMIM:300322 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e"} +xref: OMIM:308950 {source="Orphanet:510", source="Orphanet:510/nd", source="MONDO:superClassOf"} xref: Orphanet:510 {source="MONDO:equivalentTo", source="OMIM:300322"} xref: SCTID:10406007 {source="DOID:1919", source="MONDO:equivalentTo"} xref: SCTID:124275001 {source="MONDO:subClassOf", source="DOID:1919"} @@ -199391,7 +199353,7 @@ xref: SCTID:190921003 {source="DOID:1919"} xref: SCTID:267451005 {source="DOID:1919"} xref: SCTID:68655008 {source="DOID:1919"} xref: SCTID:90924007 {source="DOID:1919"} -xref: UMLS:C0023374 {source="Orphanet:510", source="DOID:1919", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300322", source="NCIT:C61255", source="ORDO:510/e"} +xref: UMLS:C0023374 {source="Orphanet:510", source="DOID:1919", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300322", source="Orphanet:510/e", source="NCIT:C61255"} xref: UMLS:C1845892 {source="OMIM:300322", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN205196 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61255", source="indirect"} ! syndromic disease @@ -199421,10 +199383,10 @@ synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" E synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [Orphanet:79233] synonym: "KELLEY-Seegmiller syndrome" RELATED [OMIM:300323] synonym: "Kelley-Seegmiller syndrome" EXACT [Orphanet:79233] -xref: ICD10CM:E79.8 {source="ORDO:79233/attributed", source="ORDO:79233/ntbt", source="Orphanet:79233"} +xref: ICD10CM:E79.8 {source="Orphanet:79233/attributed", source="Orphanet:79233/ntbt", source="Orphanet:79233"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562583 {source="MONDO:equivalentTo"} -xref: OMIM:300323 {source="MONDO:equivalentTo", source="ORDO:79233/e", source="Orphanet:79233"} +xref: OMIM:300323 {source="Orphanet:79233/e", source="MONDO:equivalentTo", source="Orphanet:79233"} xref: Orphanet:79233 {source="MONDO:equivalentTo", source="OMIM:300323"} xref: SCTID:238007004 {source="MONDO:equivalentTo"} xref: UMLS:C0268117 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300323", source="Orphanet:79233"} @@ -199475,8 +199437,8 @@ synonym: "Ito hypomelanosis" EXACT [OMIM:300337] synonym: "pigmentary mosaicism, Ito type" EXACT [Orphanet:435] xref: DOID:3156 {source="MONDO:equivalentTo"} xref: GARD:0002992 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:435", source="ORDO:435/attributed", source="ORDO:435/ntbt"} -xref: OMIM:300337 {source="Orphanet:435", source="MONDO:equivalentTo", source="ORDO:435/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:435/attributed", source="Orphanet:435/ntbt", source="Orphanet:435"} +xref: OMIM:300337 {source="Orphanet:435", source="MONDO:equivalentTo", source="Orphanet:435/e"} xref: Orphanet:435 {source="MONDO:equivalentTo", source="OMIM:300337"} xref: UMLS:C0022283 {source="MONDO:relatedTo", source="Orphanet:435", source="NCBI:mim2gene_medline"} xref: UMLS:C1415618 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300337"} @@ -199537,11 +199499,11 @@ synonym: "X-linked creatine deficiency syndrome" RELATED [GARD:0001608] synonym: "X-linked creatine transporter deficiency" RELATED [Orphanet:52503] xref: DOID:0050800 {source="MONDO:equivalentTo"} xref: GARD:0001608 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="ORDO:52503/attributed", source="ORDO:52503/ntbt", source="Orphanet:52503"} +xref: ICD10CM:E72.8 {source="Orphanet:52503", source="Orphanet:52503/attributed", source="Orphanet:52503/ntbt"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535598 {source="MONDO:equivalentTo"} xref: NCIT:C125665 {source="MONDO:equivalentTo"} -xref: OMIM:300352 {source="ORDO:52503/e", source="MONDO:equivalentTo", source="Orphanet:52503", source="DOID:0050800"} +xref: OMIM:300352 {source="MONDO:equivalentTo", source="Orphanet:52503", source="DOID:0050800", source="Orphanet:52503/e"} xref: Orphanet:52503 {source="OMIM:300352", source="MONDO:equivalentTo"} xref: SCTID:698290008 {source="MONDO:equivalentTo"} xref: UMLS:C1845862 {source="NCBI:mim2gene_medline", source="OMIM:300352", source="Orphanet:52503", source="MONDO:notFoundInDiseaseSubset"} @@ -199585,8 +199547,8 @@ synonym: "X-linked mental retardation with short stature" EXACT DEPRECATED [DOID synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT DEPRECATED [DOID:0060822] xref: DOID:0060822 {source="MONDO:equivalentTo"} xref: GARD:0013244 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:85293/attributed", source="ORDO:85293/ntbt", source="DOID:0060822", source="Orphanet:85293"} -xref: OMIM:300354 {source="MONDO:equivalentTo", source="DOID:0060822", source="ORDO:85293/e", source="Orphanet:85293"} +xref: ICD10CM:Q87.8 {source="DOID:0060822", source="Orphanet:85293", source="Orphanet:85293/attributed", source="Orphanet:85293/ntbt"} +xref: OMIM:300354 {source="Orphanet:85293/e", source="MONDO:equivalentTo", source="DOID:0060822", source="Orphanet:85293"} xref: Orphanet:85293 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:300354", source="DOID:0060822"} xref: SCTID:719811001 {source="MONDO:equivalentTo"} xref: UMLS:C1845845 {source="MONDO:equivalentTo"} @@ -199657,13 +199619,13 @@ synonym: "Robinow-Unger syndrome" EXACT [DOID:0060886, Orphanet:2780] xref: DOID:0060886 {source="MONDO:equivalentTo"} xref: EFO:0005834 {source="MONDO:equivalentTo"} xref: GARD:0004148 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="DOID:0060886", source="ORDO:2780/attributed", source="ORDO:2780/ntbt", source="Orphanet:2780"} +xref: ICD10CM:Q78.8 {source="DOID:0060886", source="Orphanet:2780/attributed", source="Orphanet:2780/ntbt", source="Orphanet:2780"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536053 {source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780", source="ORDO:2780/e"} -xref: OMIM:300373 {source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780", source="ORDO:2780/e"} +xref: MESH:C536053 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"} +xref: OMIM:300373 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"} xref: Orphanet:2780 {source="OMIM:300373", source="DOID:0060886", source="MONDO:equivalentTo"} xref: SCTID:254129003 {source="MONDO:equivalentTo"} -xref: UMLS:C0432268 {source="OMIM:300373", source="NCBI:mim2gene_medline", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780", source="ORDO:2780/e"} +xref: UMLS:C0432268 {source="OMIM:300373", source="Orphanet:2780/e", source="NCBI:mim2gene_medline", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"} is_a: MONDO:0017198 {source="Orphanet:2780"} ! osteopetrosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26837 {source="mim2gene_medgen"} ! AMER1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -199687,18 +199649,18 @@ synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical, synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [OMIM:300376] xref: DOID:9883 {source="MONDO:equivalentTo"} xref: GARD:0005900 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98895", source="ORDO:98895/inclusion", source="ORDO:98895/ntbt"} -xref: MedDRA:10059117 {source="Orphanet:98895", source="ORDO:98895/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98895", source="Orphanet:98895/ntbt", source="Orphanet:98895/inclusion"} +xref: MedDRA:10059117 {source="Orphanet:98895", source="Orphanet:98895/e"} xref: MESH:C570377 {source="https://github.com/monarch-initiative/mondo/issues/1601", source="MONDO:equivalentTo"} xref: NCIT:C84587 {source="MONDO:equivalentTo"} -xref: OMIM:159050 {source="Orphanet:98895", source="MONDO:superClassOf", source="ORDO:98895/btnt"} -xref: OMIM:300376 {source="Orphanet:98895", source="MONDO:equivalentTo", source="DOID:9883", source="ORDO:98895/e"} +xref: OMIM:159050 {source="Orphanet:98895", source="Orphanet:98895/btnt", source="MONDO:superClassOf"} +xref: OMIM:300376 {source="Orphanet:98895", source="MONDO:equivalentTo", source="Orphanet:98895/e", source="DOID:9883"} xref: Orphanet:98895 {source="MONDO:equivalentTo", source="OMIM:300376"} xref: SCTID:111501005 {source="DOID:9883"} xref: SCTID:193222002 {source="DOID:9883"} xref: SCTID:387732009 {source="MONDO:equivalentTo"} xref: UMLS:C0699741 {source="MONDO:equivalentTo", source="DOID:9883"} -xref: UMLS:C0917713 {source="Orphanet:98895", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300376", source="ORDO:98895/e"} +xref: UMLS:C0917713 {source="Orphanet:98895", source="NCBI:mim2gene_medline", source="Orphanet:98895/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300376"} xref: UMLS:C3490459 {source="MONDO:equivalentTo"} is_a: MONDO:0016147 {source="MONDO:Redundant", source="Orphanet:98895", source="indirect"} ! qualitative or quantitative defects of dystrophin is_a: MONDO:0016899 {source="Orphanet:98895"} ! Duchenne and Becker muscular dystrophy @@ -199759,7 +199721,7 @@ xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:300388"} xref: Orphanet:98889 {source="MONDO:subClassOf", source="OMIM:300388"} xref: SCTID:438583008 {source="MONDO:equivalentTo"} xref: UMLS:C1845668 {source="NCBI:mim2gene_medline", source="OMIM:300388", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0020340 {source="ORDO:98889/btnt"} ! bilateral perisylvian polymicrogyria +is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.11111111111111094" xsd:double @@ -199789,15 +199751,15 @@ synonym: "XSCID" EXACT ABBREVIATION [DOID:0060013] xref: DOID:0060013 {source="EFO:0005555", source="MONDO:equivalentTo"} xref: EFO:0005555 {source="MONDO:equivalentTo"} xref: GARD:0005618 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D81.2 {source="ORDO:276/attributed", source="ORDO:276/ntbt", source="Orphanet:276"} +xref: ICD10CM:D81.2 {source="Orphanet:276/attributed", source="Orphanet:276/ntbt", source="Orphanet:276"} xref: MESH:D053632 {source="DOID:0060013"} xref: NCIT:C4682 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"} -xref: OMIM:300400 {source="DOID:0060013", source="MONDO:equivalentTo", source="ORDO:276/e", source="Orphanet:276"} +xref: OMIM:300400 {source="DOID:0060013", source="Orphanet:276/e", source="MONDO:equivalentTo", source="Orphanet:276"} xref: Orphanet:276 {source="MONDO:equivalentTo", source="OMIM:300400"} xref: SCTID:203592006 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"} xref: SCTID:234569003 {source="DOID:0060013"} xref: UMLS:C1279481 {source="DOID:0060013", source="NCBI:mim2gene_medline", source="NCIT:C4682", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300400"} -xref: UMLS:C2931540 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:276/e", source="Orphanet:276"} +xref: UMLS:C2931540 {source="Orphanet:276/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276"} is_a: MONDO:0015974 {source="DOID:0060013", source="MONDO:0010315/inferred", source="MONDO:Redundant", source="NCIT:C4682", source="Orphanet:276/inferred", source="linkedlifedata"} ! severe combined immunodeficiency is_a: MONDO:0044200 {source="Orphanet:276", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6010 {source="mim2gene_medgen"} ! IL2RG @@ -199905,7 +199867,7 @@ synonym: "X-linked intellectual disability, Hedera type" RELATED [Orphanet:93952 synonym: "X-linked mental retardation with epilepsy" EXACT DEPRECATED [DOID:0060806] xref: DOID:0060806 {source="MONDO:equivalentTo"} xref: MESH:C564516 {source="MONDO:equivalentTo"} -xref: OMIM:300423 {source="ORDO:93952/e", source="MONDO:equivalentTo", source="Orphanet:93952", source="DOID:0060806"} +xref: OMIM:300423 {source="MONDO:equivalentTo", source="Orphanet:93952", source="DOID:0060806", source="Orphanet:93952/e"} xref: Orphanet:2076 {source="MONDO:subClassOf", source="OMIM:300423"} xref: Orphanet:93952 {source="MONDO:equivalentTo", source="OMIM:300423", source="DOID:0060806"} xref: UMLS:C1845543 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300423"} @@ -199984,11 +199946,11 @@ synonym: "Atkin syndrome" RELATED [OMIM:300431] synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431] synonym: "X-linked intellectual disability, Atkin type" EXACT [Orphanet:1193] xref: GARD:0003537 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1193/attributed", source="ORDO:1193/ntbt", source="Orphanet:1193"} -xref: OMIM:300431 {source="MONDO:equivalentTo", source="ORDO:1193/e", source="Orphanet:1193"} +xref: ICD10CM:Q87.8 {source="Orphanet:1193/attributed", source="Orphanet:1193/ntbt", source="Orphanet:1193"} +xref: OMIM:300431 {source="Orphanet:1193/e", source="MONDO:equivalentTo", source="Orphanet:1193"} xref: Orphanet:1193 {source="MONDO:equivalentTo", source="OMIM:300431"} xref: SCTID:718577005 {source="MONDO:equivalentTo"} -xref: UMLS:C0796206 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300431", source="ORDO:1193/e", source="Orphanet:1193"} +xref: UMLS:C0796206 {source="Orphanet:1193/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300431", source="Orphanet:1193"} is_a: MONDO:0015159 {source="Orphanet:1193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:1193"} ! X-linked syndromic intellectual disability property_value: confidence "8.375" xsd:double @@ -200022,9 +199984,9 @@ synonym: "Stocco dos Santos syndrome" RELATED [GARD:0001133] synonym: "Stocco DOS Santos X-linked intellectual disability syndrome" RELATED [OMIM:300434] synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300434] xref: GARD:0001133 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:85288", source="ORDO:85288/attributed", source="ORDO:85288/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85288", source="Orphanet:85288/attributed", source="Orphanet:85288/ntbt"} xref: MESH:C537495 {source="MONDO:equivalentTo"} -xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source="ORDO:85288/e"} +xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source="Orphanet:85288/e"} xref: Orphanet:85288 {source="MONDO:equivalentTo", source="OMIM:300434"} xref: SCTID:718910006 {source="MONDO:equivalentTo"} xref: UMLS:C1845530 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300434"} @@ -200089,12 +200051,12 @@ synonym: "syndromic X-linked intellectual disability type 10" EXACT [MONDO:00102 synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" EXACT [DOID:0060810, Orphanet:85295] xref: DOID:0060810 {source="MONDO:equivalentTo"} xref: GARD:0010716 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:391417", source="ORDO:391417/attributed", source="ORDO:391417/ntbt"} -xref: ICD10CM:G25.5 {source="ORDO:85295/attributed", source="ORDO:85295/ntbt", source="DOID:0060810", source="Orphanet:85295"} +xref: ICD10CM:E72.8 {source="Orphanet:391417", source="Orphanet:391417/attributed", source="Orphanet:391417/ntbt"} +xref: ICD10CM:G25.5 {source="DOID:0060810", source="Orphanet:85295/attributed", source="Orphanet:85295/ntbt", source="Orphanet:85295"} xref: MESH:C536080 {source="MONDO:equivalentTo"} xref: MESH:C564560 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:300220 {source="MONDO:equivalentTo", source="DOID:0060810", source="ORDO:85295/e"} -xref: OMIM:300438 {source="Orphanet:391417", source="ORDO:391417/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:85295"} +xref: OMIM:300220 {source="Orphanet:85295/e", source="MONDO:equivalentTo", source="DOID:0060810"} +xref: OMIM:300438 {source="Orphanet:391417", source="MONDO:equivalentTo", source="Orphanet:391417/e", source="MONDO:preferredExternal", source="Orphanet:85295"} xref: Orphanet:391417 {source="MONDO:equivalentTo", source="OMIM:300438"} xref: Orphanet:85295 {source="MONDO:relatedTo", source="OMIM:300220", source="DOID:0060810"} xref: SCTID:791000124107 {source="MONDO:equivalentTo"} @@ -200118,10 +200080,10 @@ synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical, OMI synonym: "alpha-thalassemia myelodysplasia syndrome, somatic" EXACT [OMIM:300448, OMIM:genemap2] synonym: "ATMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300448, Orphanet:231401] synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448] -xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="ORDO:231401/attributed", source="ORDO:231401/ntbt", source="Orphanet:231401"} +xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:231401", source="Orphanet:231401/attributed", source="Orphanet:231401/ntbt"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563023 {source="MONDO:equivalentTo"} -xref: OMIM:300448 {source="MONDO:equivalentTo", source="Orphanet:231401", source="ORDO:231401/e"} +xref: OMIM:300448 {source="MONDO:equivalentTo", source="Orphanet:231401", source="Orphanet:231401/e"} xref: Orphanet:231401 {source="MONDO:equivalentTo", source="OMIM:300448"} xref: SCTID:307343001 {source="MONDO:equivalentTo"} xref: UMLS:C0585216 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:231401", source="OMIM:300448"} @@ -200153,7 +200115,7 @@ comment: Reason: out of scope. Requested by ClinGen retinal experts to obsolete subset: ordo_disease {source="Orphanet:247522"} synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [OMIM:300455] xref: MESH:C567595 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:300455 {source="ORDO:247522/e", source="Orphanet:247522", source="MONDO:obsoleteEquivalent"} +xref: OMIM:300455 {source="Orphanet:247522", source="MONDO:obsoleteEquivalent", source="Orphanet:247522/e"} xref: Orphanet:247522 {source="MONDO:obsoleteEquivalent", source="OMIM:300455"} xref: UMLS:C2749137 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:300455"} property_value: IAO:0000231 "out of scope" xsd:string @@ -200181,9 +200143,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:85280"} synonym: "cubitus valgus with intellectual disability and unusual facies" RELATED [OMIM:300471] synonym: "cubitus valgus with mental retardation and unusual facies" RELATED DEPRECATED [OMIM:300471] synonym: "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" EXACT [OMIM:300471, OMIM:genemap2] -xref: ICD10CM:Q87.8 {source="ORDO:85280/attributed", source="ORDO:85280/ntbt", source="Orphanet:85280"} +xref: ICD10CM:Q87.8 {source="Orphanet:85280", source="Orphanet:85280/attributed", source="Orphanet:85280/ntbt"} xref: MESH:C564510 {source="MONDO:equivalentTo"} -xref: OMIM:300471 {source="MONDO:equivalentTo", source="ORDO:85280/e", source="Orphanet:85280"} +xref: OMIM:300471 {source="MONDO:equivalentTo", source="Orphanet:85280", source="Orphanet:85280/e"} xref: Orphanet:85280 {source="OMIM:300471", source="MONDO:equivalentTo"} xref: UMLS:C1845450 {source="OMIM:300471", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85280"} is_a: MONDO:0015159 {source="Orphanet:85280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -200208,9 +200170,9 @@ synonym: "mental retardation, X-linked, syndromic 28" EXACT DEPRECATED [DOID:006 synonym: "MRXS28" EXACT ABBREVIATION [DOID:0060816] xref: DOID:0060816 {source="MONDO:equivalentTo"} xref: GARD:0012486 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:52055/attributed", source="ORDO:52055/ntbt", source="Orphanet:52055", source="DOID:0060816"} +xref: ICD10CM:Q87.8 {source="Orphanet:52055/attributed", source="Orphanet:52055/ntbt", source="Orphanet:52055", source="DOID:0060816"} xref: MESH:C564509 {source="MONDO:equivalentTo"} -xref: OMIM:300472 {source="MONDO:equivalentTo", source="ORDO:52055/e", source="Orphanet:52055", source="DOID:0060816"} +xref: OMIM:300472 {source="Orphanet:52055/e", source="MONDO:equivalentTo", source="Orphanet:52055", source="DOID:0060816"} xref: Orphanet:52055 {source="OMIM:300472", source="MONDO:equivalentTo", source="DOID:0060816"} xref: SCTID:722282008 {source="MONDO:equivalentTo"} xref: UMLS:C1845446 {source="OMIM:300472", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52055"} @@ -200232,9 +200194,9 @@ synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [OMIM:300475] synonym: "DDCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300475] synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical, OMIM:300475] synonym: "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" EXACT [OMIM:300475, OMIM:genemap2] -xref: ICD10CM:Q87.8 {source="ORDO:369939/attributed", source="ORDO:369939/ntbt", source="Orphanet:369939"} +xref: ICD10CM:Q87.8 {source="Orphanet:369939", source="Orphanet:369939/attributed", source="Orphanet:369939/ntbt"} xref: MESH:C564508 {source="MONDO:equivalentTo"} -xref: OMIM:300475 {source="MONDO:equivalentTo", source="Orphanet:369939", source="ORDO:369939/e"} +xref: OMIM:300475 {source="Orphanet:369939/e", source="MONDO:equivalentTo", source="Orphanet:369939"} xref: Orphanet:369939 {source="MONDO:equivalentTo", source="OMIM:300475"} xref: Orphanet:369942 {source="MONDO:superClassOf", source="OMIM:300475"} xref: UMLS:C1845408 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300475"} @@ -200294,13 +200256,13 @@ synonym: "orofaciodigital syndrome VIII, X-linked recessive" EXACT [OMIM:300484, synonym: "orofaciodigital syndrome, Edwards type" EXACT [Orphanet:2755] xref: DOID:0060378 {source="MONDO:equivalentTo"} xref: GARD:0004060 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:2755/attributed", source="ORDO:2755/ntbt", source="Orphanet:2755"} +xref: ICD10CM:Q87.0 {source="Orphanet:2755", source="Orphanet:2755/attributed", source="Orphanet:2755/ntbt"} xref: MESH:C557820 {source="DOID:0060378", source="MONDO:equivalentTo"} -xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="Orphanet:2755", source="ORDO:2755/e"} +xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="Orphanet:2755", source="Orphanet:2755/e"} xref: Orphanet:2755 {source="DOID:0060378", source="OMIM:300484", source="MONDO:equivalentTo"} xref: SCTID:722106001 {source="MONDO:equivalentTo"} xref: UMLS:C0152096 {source="MONDO:relatedTo", source="OMIM:300484"} -xref: UMLS:C0796101 {source="DOID:0060378", source="NCBI:mim2gene_medline", source="OMIM:300484", source="Orphanet:2755", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2755/e"} +xref: UMLS:C0796101 {source="DOID:0060378", source="NCBI:mim2gene_medline", source="OMIM:300484", source="Orphanet:2755", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2755/e"} is_a: MONDO:0015375 {source="DC-OMIM:300484", source="DOID:0060378", source="MESH:C557820", source="Orphanet:2755", source="linkedlifedata"} ! orofaciodigital syndrome is_a: MONDO:0019589 {source="Orphanet:2755"} ! syndromic genetic hearing loss relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -200335,9 +200297,9 @@ synonym: "X-linked intellectual disability-cerebellar hypoplasia syndrome" EXACT xref: DOID:0080311 {source="MONDO:equivalentTo"} xref: GARD:0009947 {source="MONDO:equivalentTo"} xref: GARD:0013093 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:137831", source="ORDO:137831/attributed", source="ORDO:137831/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:137831", source="Orphanet:137831/attributed", source="Orphanet:137831/ntbt"} xref: MESH:C537456 {source="MONDO:equivalentTo"} -xref: OMIM:300486 {source="Orphanet:137831", source="ORDO:137831/e", source="GARD:0009947", source="MONDO:equivalentTo"} +xref: OMIM:300486 {source="Orphanet:137831", source="GARD:0009947", source="MONDO:equivalentTo", source="Orphanet:137831/e"} xref: Orphanet:137831 {source="MONDO:equivalentTo", source="OMIM:300486"} xref: SCTID:719136005 {source="MONDO:equivalentTo"} xref: UMLS:C1845366 {source="Orphanet:137831", source="GARD:0009947", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300486"} @@ -200372,9 +200334,9 @@ synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [Orphanet:13 synonym: "X-linked dSMA type 3" EXACT [Orphanet:139557] synonym: "X-linked dSMA3" EXACT [Orphanet:139557] xref: DOID:0111196 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139557", source="ORDO:139557/attributed", source="ORDO:139557/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139557/attributed", source="Orphanet:139557/ntbt", source="Orphanet:139557"} xref: MESH:C564506 {source="MONDO:equivalentTo"} -xref: OMIM:300489 {source="ORDO:139557/e", source="Orphanet:139557", source="MONDO:equivalentTo"} +xref: OMIM:300489 {source="Orphanet:139557", source="MONDO:equivalentTo", source="Orphanet:139557/e"} xref: Orphanet:139557 {source="MONDO:equivalentTo", source="OMIM:300489"} xref: SCTID:766764008 {source="MONDO:equivalentTo"} xref: UMLS:C1845359 {source="Orphanet:139557", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300489"} @@ -200395,9 +200357,9 @@ subset: ordo_disease {source="Orphanet:85294"} synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491] synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [OMIM:300491, OMIM:genemap2] synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q87.8 {source="ORDO:85294/attributed", source="ORDO:85294/ntbt", source="Orphanet:85294"} +xref: ICD10CM:Q87.8 {source="Orphanet:85294/attributed", source="Orphanet:85294/ntbt", source="Orphanet:85294"} xref: MESH:C564505 {source="MONDO:equivalentTo"} -xref: OMIM:300491 {source="MONDO:equivalentTo", source="ORDO:85294/e", source="Orphanet:85294"} +xref: OMIM:300491 {source="Orphanet:85294/e", source="MONDO:equivalentTo", source="Orphanet:85294"} xref: Orphanet:85294 {source="OMIM:300491", source="MONDO:equivalentTo"} xref: UMLS:C1845343 {source="OMIM:300491", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85294"} is_a: MONDO:0015653 {source="Orphanet:85294"} ! monogenic epilepsy @@ -200577,7 +200539,7 @@ xref: Orphanet:243 {source="MONDO:subClassOf", source="OMIM:300510"} xref: UMLS:C1845294 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300510"} xref: UMLS:C1845295 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300510"} is_a: MONDO:0005387 {source="OMIM:300510", source="indirect"} ! primary ovarian failure -is_a: MONDO:0009299 {source="OMIM:300510", source="ORDO:243/btnt"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="OMIM:300510", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis intersection_of: MONDO:0005387 ! primary ovarian failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1068 ! BMP15 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1068 {source="mim2gene_medgen"} ! BMP15 @@ -200662,9 +200624,9 @@ synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT DEP synonym: "MRXSMP" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519] synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [Orphanet:85321] xref: DOID:0060830 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85321", source="DOID:0060830", source="ORDO:85321/attributed", source="ORDO:85321/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85321", source="Orphanet:85321/attributed", source="Orphanet:85321/ntbt", source="DOID:0060830"} xref: MESH:C564495 {source="MONDO:equivalentTo"} -xref: OMIM:300519 {source="Orphanet:85321", source="MONDO:equivalentTo", source="DOID:0060830", source="ORDO:85321/e"} +xref: OMIM:300519 {source="Orphanet:85321", source="MONDO:equivalentTo", source="Orphanet:85321/e", source="DOID:0060830"} xref: Orphanet:85321 {source="OMIM:300519", source="MONDO:equivalentTo", source="DOID:0060830"} xref: SCTID:721087008 {source="MONDO:equivalentTo"} xref: UMLS:C1845285 {source="OMIM:300519", source="Orphanet:85321", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -200701,11 +200663,11 @@ synonym: "X-linked intellectual disability with hypotonia" RELATED [GARD:0005617 synonym: "X-linked intellectual disability-hypotonia syndrome" EXACT [Orphanet:59] xref: DOID:0050631 {source="MONDO:equivalentTo"} xref: GARD:0005617 {source="MONDO:equivalentTo"} -xref: ICD10CM:E03.1 {source="ORDO:59/attributed", source="ORDO:59/ntbt"} +xref: ICD10CM:E03.1 {source="Orphanet:59/attributed", source="Orphanet:59/ntbt"} xref: ICD10CM:G31.8 {source="Orphanet:59"} -xref: MESH:C537047 {source="ORDO:59/e", source="MONDO:equivalentTo", source="Orphanet:59"} +xref: MESH:C537047 {source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"} xref: NCIT:C118843 {source="MONDO:equivalentTo"} -xref: OMIM:300523 {source="ORDO:59/e", source="DOID:0050631", source="MONDO:equivalentTo", source="Orphanet:59"} +xref: OMIM:300523 {source="DOID:0050631", source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"} xref: Orphanet:280270 {source="MONDO:subClassOf", source="OMIM:300523"} xref: Orphanet:59 {source="MONDO:equivalentTo", source="OMIM:300523"} xref: SCTID:702327009 {source="MONDO:equivalentTo"} @@ -200735,9 +200697,9 @@ synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EX synonym: "syndromic X-linked intellectual disability JARID1C-related" EXACT [DOID:0060809] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT DEPRECATED [DOID:0060809] xref: DOID:0060809 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85279", source="DOID:0060809", source="ORDO:85279/attributed", source="ORDO:85279/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85279", source="DOID:0060809", source="Orphanet:85279/attributed", source="Orphanet:85279/ntbt"} xref: MESH:C564494 {source="MONDO:equivalentTo"} -xref: OMIM:300534 {source="ORDO:85279/e", source="Orphanet:85279", source="DOID:0060809", source="MONDO:equivalentTo"} +xref: OMIM:300534 {source="Orphanet:85279", source="DOID:0060809", source="MONDO:equivalentTo", source="Orphanet:85279/e"} xref: Orphanet:85279 {source="DOID:0060809", source="MONDO:equivalentTo", source="OMIM:300534"} xref: SCTID:719161008 {source="MONDO:equivalentTo"} xref: UMLS:C1845243 {source="Orphanet:85279", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300534"} @@ -200757,9 +200719,9 @@ subset: ordo_disease {source="Orphanet:93606"} synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [MONDO:Lexical, OMIM:300539] synonym: "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" EXACT [OMIM:300539, OMIM:genemap2] synonym: "NSIAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300539, Orphanet:93606] -xref: ICD10CM:E22.2 {source="ORDO:93606/attributed", source="ORDO:93606/ntbt", source="Orphanet:93606"} +xref: ICD10CM:E22.2 {source="Orphanet:93606/attributed", source="Orphanet:93606/ntbt", source="Orphanet:93606"} xref: MESH:C564491 {source="MONDO:equivalentTo"} -xref: OMIM:300539 {source="MONDO:equivalentTo", source="ORDO:93606/e", source="Orphanet:93606"} +xref: OMIM:300539 {source="Orphanet:93606/e", source="MONDO:equivalentTo", source="Orphanet:93606"} xref: Orphanet:93606 {source="MONDO:equivalentTo", source="OMIM:300539"} xref: SCTID:723440000 {source="MONDO:equivalentTo"} xref: UMLS:C1845202 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300539", source="Orphanet:93606"} @@ -200809,9 +200771,9 @@ synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern] synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555] synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623] synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -xref: ICD10CM:N25.8 {source="ORDO:93623/attributed", source="ORDO:93623/ntbt", source="Orphanet:93623"} +xref: ICD10CM:N25.8 {source="Orphanet:93623", source="Orphanet:93623/attributed", source="Orphanet:93623/ntbt"} xref: MESH:C564487 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:300555 {source="MONDO:equivalentTo", source="ORDO:93623/e", source="Orphanet:93623"} +xref: OMIM:300555 {source="MONDO:equivalentTo", source="Orphanet:93623", source="Orphanet:93623/e"} xref: Orphanet:1652 {source="MONDO:subClassOf", source="OMIM:300555"} xref: Orphanet:93623 {source="MONDO:equivalentTo", source="OMIM:300555"} xref: SCTID:717790004 {source="MONDO:equivalentTo"} @@ -200835,7 +200797,7 @@ xref: OMIM:300557 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="MONDO:subClassOf", source="OMIM:300557"} xref: UMLS:C1845165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300557"} is_a: MONDO:0005180 {source="MESH:C564486", source="MONDO:Redundant", source="OMIM:300557", source="indirect"} ! Parkinson disease -is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease +is_a: MONDO:0017279 {source="Orphanet:2828/btnt"} ! young-onset Parkinson disease property_value: confidence "0.3096492687679333" xsd:double [Term] @@ -200898,9 +200860,9 @@ synonym: "PHKA1-related glycogen storage disease type IX" EXACT [https://www.ncb synonym: "X-linked muscke glycogenosis" EXACT EXCLUDE [DOID:0111040] xref: DOID:0111040 {source="MONDO:equivalentTo"} xref: GARD:0003858 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:715/attributed", source="ORDO:715/ntbt", source="Orphanet:715", source="DOID:0111040"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:715", source="DOID:0111040", source="Orphanet:715/attributed", source="Orphanet:715/ntbt"} xref: MESH:C564485 {source="MONDO:equivalentTo"} -xref: OMIM:300559 {source="ORDO:715/e", source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} +xref: OMIM:300559 {source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:715/e"} xref: Orphanet:715 {source="MONDO:equivalentTo", source="DOID:0111040", source="GARD:0003858", source="OMIM:300559"} xref: UMLS:C1845151 {source="NCBI:mim2gene_medline", source="Orphanet:715", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300559"} is_a: MONDO:0002412 ! glycogen storage disease @@ -200951,8 +200913,8 @@ synonym: "retinitis pigmentosa and intellectual disability due to monosomy Xp11. synonym: "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" EXACT [Orphanet:85332] synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" RELATED [GARD:0008360] xref: GARD:0008360 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="Orphanet:85332", source="MONDO:relatedTo", source="ORDO:85332/attributed", source="ORDO:85332/ntbt"} -xref: OMIM:300578 {source="Orphanet:85332", source="MONDO:equivalentTo", source="ORDO:85332/e"} +xref: ICD10CM:H35.5 {source="Orphanet:85332", source="MONDO:relatedTo", source="Orphanet:85332/attributed", source="Orphanet:85332/ntbt"} +xref: OMIM:300578 {source="Orphanet:85332", source="MONDO:equivalentTo", source="Orphanet:85332/e"} xref: Orphanet:85332 {source="MONDO:equivalentTo", source="OMIM:300578"} xref: SCTID:719808002 {source="MONDO:equivalentTo"} xref: UMLS:C0795873 {source="Orphanet:85332", source="MONDO:equivalentTo"} @@ -200978,7 +200940,7 @@ xref: MESH:C567594 {source="MONDO:equivalentTo"} xref: OMIM:300580 {source="MONDO:equivalentTo"} xref: Orphanet:2020 {source="MONDO:subClassOf", source="OMIM:300580"} xref: UMLS:C2749128 {source="OMIM:300580", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009711 {source="ORDO:2020/btnt"} ! congenital fiber-type disproportion myopathy +is_a: MONDO:0009711 {source="Orphanet:2020/btnt"} ! congenital fiber-type disproportion myopathy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.7333333333333334" xsd:double @@ -201002,9 +200964,9 @@ synonym: "ISS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300582] synonym: "short stature, idiopathic familial" EXACT [OMIM:300582, OMIM:genemap2] synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical, OMIM:300582] xref: EFO:0008989 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:314795/attributed", source="ORDO:314795/ntbt", source="Orphanet:314795"} +xref: ICD10CM:Q87.1 {source="Orphanet:314795/attributed", source="Orphanet:314795/ntbt", source="Orphanet:314795"} xref: MESH:C564479 {source="MONDO:equivalentTo"} -xref: OMIM:300582 {source="MONDO:equivalentTo", source="Orphanet:314795", source="ORDO:314795/e"} +xref: OMIM:300582 {source="Orphanet:314795/e", source="MONDO:equivalentTo", source="Orphanet:314795"} xref: Orphanet:314795 {source="OMIM:300582", source="MONDO:equivalentTo"} xref: SCTID:763868006 {source="MONDO:equivalentTo"} xref: UMLS:C1845118 {source="OMIM:300582", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -201084,9 +201046,9 @@ synonym: "Forsius-Eriksson type ocular albinism" EXACT [OMIM:300600, Orphanet:17 synonym: "Åland Islands eye disease" RELATED [Orphanet:178333] xref: DOID:0050630 {source="MONDO:equivalentTo"} xref: GARD:0010574 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="Orphanet:178333", source="ORDO:178333/attributed", source="ORDO:178333/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:H35.5 {source="Orphanet:178333", source="Orphanet:178333/attributed", source="Orphanet:178333/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C562664 {source="MONDO:equivalentTo"} -xref: OMIM:300600 {source="DOID:0050630", source="Orphanet:178333", source="ORDO:178333/e", source="MONDO:equivalentTo"} +xref: OMIM:300600 {source="DOID:0050630", source="Orphanet:178333", source="MONDO:equivalentTo", source="Orphanet:178333/e"} xref: Orphanet:178333 {source="MONDO:equivalentTo", source="OMIM:300600"} xref: SCTID:266455006 {source="MONDO:equivalentTo"} xref: UMLS:C0268505 {source="Orphanet:178333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300600"} @@ -201157,9 +201119,9 @@ synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1, synonym: "hyperekplexia and epilepsy" RELATED [OMIM:300607] synonym: "hyperekplexia-epilepsy syndrome" EXACT [Orphanet:163985] xref: DOID:0080215 {source="MONDO:equivalentTo"} -xref: ICD10CM:G25.8 {source="ORDO:163985/attributed", source="ORDO:163985/ntbt", source="Orphanet:163985"} +xref: ICD10CM:G25.8 {source="Orphanet:163985/attributed", source="Orphanet:163985/ntbt", source="Orphanet:163985"} xref: MESH:C564474 {source="MONDO:equivalentTo"} -xref: OMIM:300607 {source="MONDO:equivalentTo", source="DOID:0080215", source="ORDO:163985/e", source="Orphanet:163985"} +xref: OMIM:300607 {source="Orphanet:163985/e", source="MONDO:equivalentTo", source="DOID:0080215", source="Orphanet:163985"} xref: Orphanet:163985 {source="OMIM:300607", source="MONDO:equivalentTo"} xref: UMLS:C1845102 {source="OMIM:300607", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163985"} is_a: MONDO:0005395 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:163985", source="indirect"} ! movement disorder @@ -201206,9 +201168,9 @@ synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1 synonym: "X-linked hereditary sensory and autonomic neuropathy with deafness" NARROW CLINGEN_PREFERRED [OMIM:300614] synonym: "X-linked HSAN with deafness" NARROW [Orphanet:139583] xref: GARD:0012731 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.8 {source="ORDO:139583/attributed", source="ORDO:139583/ntbt", source="Orphanet:139583"} +xref: ICD10CM:G60.8 {source="Orphanet:139583", source="Orphanet:139583/attributed", source="Orphanet:139583/ntbt"} xref: MESH:C564472 {source="MONDO:equivalentTo"} -xref: OMIM:300614 {source="MONDO:equivalentTo", source="Orphanet:139583", source="ORDO:139583/e"} +xref: OMIM:300614 {source="Orphanet:139583/e", source="MONDO:equivalentTo", source="Orphanet:139583"} xref: Orphanet:139583 {source="MONDO:equivalentTo", source="OMIM:300614"} xref: SCTID:719838008 {source="MONDO:equivalentTo"} xref: UMLS:C1845095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300614"} @@ -201236,9 +201198,9 @@ synonym: "Brunner syndrome, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693] xref: DOID:0060693 {source="MONDO:equivalentTo"} xref: GARD:0003531 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E70.8 {source="DOID:0060693", source="Orphanet:3057", source="ORDO:3057/attributed", source="ORDO:3057/ntbt"} +xref: ICD10CM:E70.8 {source="DOID:0060693", source="Orphanet:3057", source="Orphanet:3057/attributed", source="Orphanet:3057/ntbt"} xref: MESH:C563156 {source="DOID:0060693", source="MONDO:equivalentTo"} -xref: OMIM:300615 {source="DOID:0060693", source="Orphanet:3057", source="ORDO:3057/e", source="MONDO:equivalentTo"} +xref: OMIM:300615 {source="DOID:0060693", source="Orphanet:3057", source="MONDO:equivalentTo", source="Orphanet:3057/e"} xref: Orphanet:3057 {source="DOID:0060693", source="MONDO:equivalentTo", source="OMIM:300615"} xref: SCTID:718210003 {source="MONDO:equivalentTo"} xref: UMLS:C0796275 {source="Orphanet:3057", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300615"} @@ -201290,14 +201252,14 @@ synonym: "Fragile X tremor/ataxia syndrome, X-linked dominant" EXACT [OMIM:30062 synonym: "FXTAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300623] synonym: "FXTAS syndrome" EXACT [DOID:0050879, Orphanet:93256] xref: DOID:0050879 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.2 {source="Orphanet:93256", source="ORDO:93256/attributed", source="ORDO:93256/ntbt"} +xref: ICD10CM:G11.2 {source="Orphanet:93256/attributed", source="Orphanet:93256/ntbt", source="Orphanet:93256"} xref: MESH:C564105 {source="MONDO:equivalentTo"} xref: NCIT:C126566 {source="MONDO:equivalentTo"} -xref: OMIM:300623 {source="ORDO:93256/e", source="Orphanet:93256", source="MONDO:equivalentTo", source="DOID:0050879"} +xref: OMIM:300623 {source="Orphanet:93256", source="MONDO:equivalentTo", source="Orphanet:93256/e", source="DOID:0050879"} xref: Orphanet:93256 {source="MONDO:equivalentTo", source="OMIM:300623"} xref: SCTID:448045004 {source="MONDO:equivalentTo"} xref: UMLS:C1839780 {source="Orphanet:93256", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126566", source="OMIM:300623"} -xref: UMLS:C3164069 {source="ORDO:93256/e", source="Orphanet:93256", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C3164069 {source="Orphanet:93256", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93256/e"} is_a: MONDO:0002254 {source="NCIT:C126566", source="indirect"} ! syndromic disease is_a: MONDO:0005395 {source="Orphanet:93256"} ! movement disorder is_a: MONDO:0016612 {source="DOID:0050879", source="Orphanet:93256"} ! X-linked cerebellar ataxia @@ -201333,17 +201295,17 @@ synonym: "X-linked intellectual disability and macroorchidism" RELATED [OMIM:300 synonym: "X-linked mental retardation and macroorchidism" RELATED DEPRECATED [OMIM:300624] xref: DOID:14261 {source="MONDO:equivalentTo"} xref: GARD:0006464 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q99.2 {source="DOID:14261", source="ORDO:908/specific", source="ORDO:908/e", source="Orphanet:908"} +xref: ICD10CM:Q99.2 {source="Orphanet:908/e", source="Orphanet:908/specific", source="DOID:14261", source="Orphanet:908"} xref: ICD9:759.83 {source="DOID:14261", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10017324 {source="ORDO:908/e", source="Orphanet:908"} -xref: MESH:D005600 {source="DOID:14261", source="MONDO:equivalentTo", source="ORDO:908/e", source="Orphanet:908"} +xref: MedDRA:10017324 {source="Orphanet:908/e", source="Orphanet:908"} +xref: MESH:D005600 {source="Orphanet:908/e", source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908"} xref: NCIT:C84717 {source="DOID:14261", source="MONDO:equivalentTo"} -xref: OMIM:300624 {source="ORDO:908/ntbt", source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908"} +xref: OMIM:300624 {source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908/ntbt", source="Orphanet:908"} xref: Orphanet:908 {source="MONDO:equivalentTo", source="OMIM:300624"} xref: SCTID:390007001 {source="DOID:14261"} xref: SCTID:613003 {source="DOID:14261", source="MONDO:equivalentTo"} -xref: UMLS:C0016667 {source="DOID:14261", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84717", source="ORDO:908/e", source="Orphanet:908", source="OMIM:300624"} -xref: UMLS:C0751156 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:908/e", source="Orphanet:908"} +xref: UMLS:C0016667 {source="Orphanet:908/e", source="DOID:14261", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84717", source="Orphanet:908", source="OMIM:300624"} +xref: UMLS:C0751156 {source="Orphanet:908/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:908"} xref: UMLS:C2749127 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300624"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84717", source="indirect"} ! syndromic disease is_a: MONDO:0005027 {source="MONDO:0015652-obsoleted"} ! epilepsy @@ -201399,7 +201361,7 @@ xref: Orphanet:2442 {source="MONDO:subClassOf", source="OMIM:300635"} xref: Orphanet:538934 {source="MONDO:equivalentTo"} xref: UMLS:C1845076 {source="NCIT:C126295", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300635"} is_a: MONDO:0000001 {source="Orphanet:538934"} ! disease or disorder -is_a: MONDO:0010627 {source="MESH:C564469", source="MONDO:Redundant", source="ORDO:2442/btnt", source="Orphanet:538934"} ! X-linked lymphoproliferative syndrome +is_a: MONDO:0010627 {source="MESH:C564469", source="MONDO:Redundant", source="Orphanet:2442/btnt", source="Orphanet:538934"} ! X-linked lymphoproliferative syndrome is_a: MONDO:0016537 {source="DOID:0060706", source="MESH:C564469", source="MONDO:Redundant", source="OMIM:300635", source="indirect"} ! lymphoproliferative syndrome is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C126295", source="indirect"} ! immunodeficiency disease intersection_of: MONDO:0010627 ! X-linked lymphoproliferative syndrome @@ -201436,10 +201398,10 @@ synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEM synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [Orphanet:319612] synonym: "X-linked MSMD due to NEMO deficiency" EXACT [Orphanet:319612] xref: GARD:0012915 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D84.8 {source="ORDO:319612/attributed", source="ORDO:319612/ntbt", source="Orphanet:319612"} +xref: ICD10CM:D84.8 {source="Orphanet:319612/attributed", source="Orphanet:319612/ntbt", source="Orphanet:319612"} xref: MESH:C564468 {source="MONDO:equivalentTo"} xref: MESH:C567070 {source="MONDO:equivalentObsolete"} -xref: OMIM:300636 {source="MONDO:equivalentTo", source="ORDO:319612/e", source="Orphanet:319612"} +xref: OMIM:300636 {source="Orphanet:319612/e", source="MONDO:equivalentTo", source="Orphanet:319612"} xref: Orphanet:319605 {source="MONDO:subClassOf", source="OMIM:300636"} xref: Orphanet:319612 {source="MONDO:equivalentTo", source="OMIM:300636"} xref: UMLS:C1845073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300640", source="MONDO:preferredExternal"} @@ -201474,7 +201436,7 @@ xref: MESH:C564467 {source="MONDO:equivalentTo"} xref: OMIM:300643 {source="MONDO:equivalentTo"} xref: Orphanet:163721 {source="MONDO:subClassOf", source="OMIM:300643"} xref: UMLS:C1845070 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300643"} -is_a: MONDO:0015587 {source="ORDO:163721/btnt"} ! rolandic epilepsy-speech dyspraxia syndrome +is_a: MONDO:0015587 {source="Orphanet:163721/btnt"} ! rolandic epilepsy-speech dyspraxia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30668 {source="mim2gene_medgen"} ! SRPX2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.6540227828472593" xsd:double @@ -201494,9 +201456,9 @@ synonym: "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive" EX synonym: "immunodeficiency type 34" EXACT [MONDORULE:2, OMIM:300645] synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" EXACT [] synonym: "X-linked MSMD due to CYBB deficiency" EXACT [Orphanet:319623] -xref: ICD10CM:D84.8 {source="ORDO:319623/attributed", source="ORDO:319623/ntbt", source="Orphanet:319623"} +xref: ICD10CM:D84.8 {source="Orphanet:319623/attributed", source="Orphanet:319623/ntbt", source="Orphanet:319623"} xref: MESH:C567068 {source="MONDO:equivalentTo"} -xref: OMIM:300645 {source="MONDO:equivalentTo", source="ORDO:319623/e", source="Orphanet:319623"} +xref: OMIM:300645 {source="Orphanet:319623/e", source="MONDO:equivalentTo", source="Orphanet:319623"} xref: Orphanet:319605 {source="MONDO:subClassOf", source="OMIM:300645"} xref: Orphanet:319623 {source="MONDO:equivalentTo", source="OMIM:300645"} xref: UMLS:C1970859 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300645"} @@ -201518,12 +201480,12 @@ synonym: "deafness and ocular albinism" RELATED [OMIM:300650] synonym: "OASD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300650] synonym: "ocular albinism with sensorineural deafness" RELATED [OMIM:300650] xref: GARD:0000592 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:1000", source="ORDO:1000/attributed", source="ORDO:1000/ntbt"} -xref: MESH:C537043 {source="Orphanet:1000", source="ORDO:1000/e"} -xref: OMIM:300650 {source="Orphanet:1000", source="ORDO:1000/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:1000", source="Orphanet:1000/attributed", source="Orphanet:1000/ntbt"} +xref: MESH:C537043 {source="Orphanet:1000", source="Orphanet:1000/e"} +xref: OMIM:300650 {source="Orphanet:1000", source="MONDO:equivalentTo", source="Orphanet:1000/e"} xref: Orphanet:1000 {source="OMIM:300650", source="MONDO:equivalentTo"} xref: SCTID:722054007 {source="MONDO:equivalentTo"} -xref: UMLS:C1845069 {source="Orphanet:1000", source="ORDO:1000/e", source="OMIM:300650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1845069 {source="Orphanet:1000", source="OMIM:300650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1000/e"} is_a: MONDO:0017304 {source="Orphanet:1000", source="linkedlifedata"} ! ocular albinism is_a: MONDO:0019589 {source="Orphanet:1000"} ! syndromic genetic hearing loss property_value: confidence "3.7222222222222223" xsd:double @@ -201557,12 +201519,12 @@ synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653] synonym: "phosphoglycerate kinase 1 deficiency, X-linked recessive" EXACT [OMIM:300653, OMIM:genemap2] synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389] xref: GARD:0007389 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:713", source="ORDO:713/attributed", source="ORDO:713/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:713/attributed", source="Orphanet:713/ntbt", source="Orphanet:713"} xref: MESH:C567067 {source="MONDO:equivalentTo"} xref: NCIT:C126738 {source="MONDO:equivalentTo"} -xref: OMIM:300653 {source="ORDO:713/e", source="Orphanet:713", source="MONDO:equivalentTo"} +xref: OMIM:300653 {source="Orphanet:713", source="MONDO:equivalentTo", source="Orphanet:713/e"} xref: Orphanet:713 {source="MONDO:equivalentTo", source="OMIM:300653"} -xref: UMLS:C0684324 {source="ORDO:713/e", source="Orphanet:713", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0684324 {source="Orphanet:713", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:713/e"} xref: UMLS:C1970848 {source="Orphanet:713", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300653", source="NCIT:C126738"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:713"} ! glycogen storage disease is_a: MONDO:0003664 ! hemolytic anemia @@ -201602,7 +201564,7 @@ property_value: confidence "2.6000000000000005" xsd:double [Term] id: MONDO:0010394 name: obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome -xref: OMIM:300660 {source="MONDO:obsoleteEquivalent", source="ORDO:83629/e", source="Orphanet:83629"} +xref: OMIM:300660 {source="MONDO:obsoleteEquivalent", source="Orphanet:83629/e", source="Orphanet:83629"} is_obsolete: true replaced_by: MONDO:0010275 @@ -201618,9 +201580,9 @@ synonym: "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessi synonym: "PRPP synthetase superactivity" EXACT [Orphanet:3222] synonym: "PRPS1 superactivity" EXACT [OMIM:300661, Orphanet:3222] xref: DOID:0111260 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.8 {source="Orphanet:3222", source="ORDO:3222/attributed", source="ORDO:3222/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:3222", source="Orphanet:3222/attributed", source="Orphanet:3222/ntbt"} xref: MESH:C567064 {source="MONDO:equivalentTo"} -xref: OMIM:300661 {source="Orphanet:3222", source="ORDO:3222/e", source="MONDO:equivalentTo"} +xref: OMIM:300661 {source="Orphanet:3222", source="MONDO:equivalentTo", source="Orphanet:3222/e"} xref: Orphanet:3222 {source="OMIM:300661", source="MONDO:equivalentTo"} xref: SCTID:723454008 {source="MONDO:equivalentTo"} xref: UMLS:C1970827 {source="Orphanet:3222", source="OMIM:300661", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -201654,8 +201616,8 @@ xref: Orphanet:505652 {source="MONDO:equivalentTo"} xref: UMLS:C1839333 {source="MONDO:equivalentObsolete", source="OMIM:300672", source="NCBI:mim2gene_medline"} is_a: MONDO:0015653 {source="Orphanet:505652"} ! monogenic epilepsy is_a: MONDO:0017656 {source="Orphanet:505652"} ! motor stereotypies -is_a: MONDO:0017746 {source="ORDO:3095/btnt"} ! atypical Rett syndrome -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:300672", source="MONDO:Redundant", source="OMIM:300672"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11411 ! CDKL5 @@ -201672,10 +201634,10 @@ synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [OMIM synonym: "encephalopathy, neonatal severe, X-linked recessive" EXACT [OMIM:300673, OMIM:genemap2] synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [Orphanet:209370] synonym: "severe neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C132293] -xref: ICD10CM:Q02 {source="Orphanet:209370", source="ORDO:209370/attributed", source="ORDO:209370/ntbt"} +xref: ICD10CM:Q02 {source="Orphanet:209370", source="Orphanet:209370/attributed", source="Orphanet:209370/ntbt"} xref: MESH:C566878 {source="MONDO:equivalentTo"} xref: NCIT:C132293 {source="MONDO:equivalentTo"} -xref: OMIM:300673 {source="Orphanet:209370", source="ORDO:209370/e", source="MONDO:equivalentTo"} +xref: OMIM:300673 {source="Orphanet:209370", source="MONDO:equivalentTo", source="Orphanet:209370/e"} xref: Orphanet:209370 {source="MONDO:equivalentTo", source="OMIM:300673"} xref: UMLS:C1968556 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300673"} is_a: MONDO:0015653 {source="Orphanet:209370"} ! monogenic epilepsy @@ -201728,9 +201690,9 @@ synonym: "monosomy Xp21" EXACT [DOID:0060427] synonym: "Xp21 contiguous gene deletion syndrome" EXACT [Orphanet:261476] synonym: "Xp21 microdeletion syndrome" EXACT [DOID:0060427, Orphanet:261476] xref: DOID:0060427 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="ORDO:261476/attributed", source="ORDO:261476/ntbt", source="Orphanet:261476", source="DOID:0060427"} +xref: ICD10CM:Q99.8 {source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/attributed", source="Orphanet:261476/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:300679 {source="MONDO:equivalentTo", source="ORDO:261476/e", source="Orphanet:261476", source="DOID:0060427"} +xref: OMIM:300679 {source="MONDO:equivalentTo", source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/e"} xref: Orphanet:261476 {source="MONDO:equivalentTo", source="DOID:0060427", source="OMIM:300679"} xref: SCTID:297257004 {source="MONDO:equivalentTo"} xref: UMLS:C0795887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300679"} @@ -201754,8 +201716,8 @@ synonym: "SPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300695] synonym: "X-linked scapuloperoneal syndrome" EXACT [Orphanet:431272] synonym: "X-linked SPMD" EXACT [Orphanet:431272] xref: GARD:0007608 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:431272", source="ORDO:431272/attributed", source="ORDO:431272/ntbt"} -xref: OMIM:300695 {source="MONDO:equivalentTo", source="Orphanet:431272", source="ORDO:431272/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:431272/attributed", source="Orphanet:431272/ntbt", source="Orphanet:431272"} +xref: OMIM:300695 {source="Orphanet:431272/e", source="MONDO:equivalentTo", source="Orphanet:431272"} xref: Orphanet:431272 {source="MONDO:equivalentTo"} xref: UMLS:C2678061 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300695"} is_a: MONDO:0000727 {source="DC-OMIM:300695"} ! scapuloperoneal myopathy @@ -201777,8 +201739,8 @@ synonym: "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" synonym: "X-linked myopathy with postural muscle atrophy" EXACT CLINGEN_PREFERRED [] synonym: "XMPMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300696, Orphanet:178461] xref: DOID:0070251 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:178461/attributed", source="ORDO:178461/ntbt", source="Orphanet:178461"} -xref: OMIM:300696 {source="MONDO:equivalentTo", source="Orphanet:178461", source="ORDO:178461/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:178461/attributed", source="Orphanet:178461/ntbt", source="Orphanet:178461"} +xref: OMIM:300696 {source="Orphanet:178461/e", source="MONDO:equivalentTo", source="Orphanet:178461"} xref: Orphanet:178461 {source="MONDO:equivalentTo", source="OMIM:300696"} xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:300696"} xref: Orphanet:98863 {source="OMIM:300696", source="MONDO:superClassOf"} @@ -201836,13 +201798,13 @@ synonym: "Woolf syndrome" RELATED [Wikipedia:Albinism-deafness_syndrome] synonym: "Woolf's syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] synonym: "Ziprkowski–Margolis syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] xref: GARD:0000589 {source="MONDO:equivalentTo"} -xref: ICD10CM:H90.5 {source="Orphanet:998", source="ORDO:998/attributed", source="ORDO:998/ntbt"} -xref: MESH:C537042 {source="ORDO:998/e", source="Orphanet:998", source="MONDO:equivalentTo"} -xref: OMIM:300700 {source="ORDO:998/e", source="Orphanet:998", source="MONDO:equivalentTo"} +xref: ICD10CM:H90.5 {source="Orphanet:998/attributed", source="Orphanet:998/ntbt", source="Orphanet:998"} +xref: MESH:C537042 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"} +xref: OMIM:300700 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"} xref: Orphanet:998 {source="MONDO:equivalentTo", source="OMIM:300700"} xref: SCTID:722285005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:74320008 {source="MONDO:equivalentTo"} -xref: UMLS:C1845068 {source="ORDO:998/e", source="NCBI:mim2gene_medline", source="Orphanet:998", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300700"} +xref: UMLS:C1845068 {source="NCBI:mim2gene_medline", source="Orphanet:998", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300700", source="Orphanet:998/e"} is_a: MONDO:0019290 {source="MESH:C537042/inferred", source="Orphanet:998"} ! hypopigmentation of the skin is_a: MONDO:0019589 {source="Orphanet:998"} ! syndromic genetic hearing loss is_a: MONDO:0043209 {source="MESH:C537042", source="MONDO:cjm", source="linkedlifedata"} ! albinism @@ -201860,9 +201822,9 @@ synonym: "SCAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300703, Orphanet:314978 synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical, OMIM:300703] synonym: "spinocerebellar ataxia, X-linked 5, X-linked recessive" EXACT [OMIM:300703, OMIM:genemap2] synonym: "X-linked spinocerebellar ataxia type 5" EXACT [Orphanet:314978] -xref: ICD10CM:G11.0 {source="ORDO:314978/attributed", source="ORDO:314978/ntbt", source="Orphanet:314978"} +xref: ICD10CM:G11.0 {source="Orphanet:314978", source="Orphanet:314978/attributed", source="Orphanet:314978/ntbt"} xref: MESH:C567478 {source="MONDO:equivalentTo"} -xref: OMIM:300703 {source="ORDO:314978/e", source="MONDO:equivalentTo", source="Orphanet:314978"} +xref: OMIM:300703 {source="MONDO:equivalentTo", source="Orphanet:314978", source="Orphanet:314978/e"} xref: Orphanet:314978 {source="MONDO:equivalentTo", source="OMIM:300703"} xref: SCTID:766818009 {source="MONDO:equivalentTo"} xref: UMLS:C2678048 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300703"} @@ -201925,11 +201887,11 @@ xref: DOID:0060811 {source="MONDO:equivalentTo"} xref: DOID:0060829 {source="MONDO:equivalentObsolete"} xref: GARD:0005604 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0005610 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="DOID:0060829", source="Orphanet:3056", source="ORDO:85328/attributed", source="ORDO:85328/ntbt", source="Orphanet:85328", source="ORDO:3056/attributed", source="ORDO:3056/ntbt"} +xref: ICD10CM:Q87.8 {source="DOID:0060829", source="Orphanet:3056", source="Orphanet:3056/attributed", source="Orphanet:3056/ntbt", source="Orphanet:85328", source="Orphanet:85328/attributed", source="Orphanet:85328/ntbt"} xref: MESH:C563154 {source="MONDO:equivalentTo"} xref: MESH:C567476 {source="MONDO:equivalentTo"} -xref: OMIM:300612 {source="DOID:0060829", source="Orphanet:3056", source="MONDO:equivalentObsolete", source="ORDO:3056/e"} -xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="ORDO:85328/e", source="DOID:0060811", source="Orphanet:85328"} +xref: OMIM:300612 {source="DOID:0060829", source="Orphanet:3056", source="MONDO:equivalentObsolete", source="Orphanet:3056/e"} +xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="DOID:0060811", source="Orphanet:85328", source="Orphanet:85328/e"} xref: OMIM:309590 {source="Orphanet:3056", source="MONDO:equivalentTo"} xref: Orphanet:3056 {source="DOID:0060829", source="MONDO:equivalentTo", source="OMIM:300612"} xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentTo", source="OMIM:309590", source="DOID:0060811", source="MONDO:preferredExternal"} @@ -201958,9 +201920,9 @@ synonym: "syndactyly-telecanthus-anogenital and renal malformations syndrome" EX synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical, OMIM:300707] synonym: "toe syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295] xref: GARD:0010295 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:140952/attributed", source="ORDO:140952/ntbt", source="Orphanet:140952"} +xref: ICD10CM:Q87.8 {source="Orphanet:140952", source="Orphanet:140952/attributed", source="Orphanet:140952/ntbt"} xref: MESH:C567475 {source="MONDO:equivalentTo"} -xref: OMIM:300707 {source="MONDO:equivalentTo", source="Orphanet:140952", source="ORDO:140952/e"} +xref: OMIM:300707 {source="Orphanet:140952/e", source="MONDO:equivalentTo", source="Orphanet:140952"} xref: Orphanet:140952 {source="OMIM:300707", source="MONDO:equivalentTo"} xref: SCTID:723581006 {source="MONDO:equivalentTo"} xref: UMLS:C2678045 {source="OMIM:300707", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:140952"} @@ -201983,9 +201945,9 @@ synonym: "mental retardation, X-linked, syndromic 9" EXACT DEPRECATED [DOID:0060 synonym: "MRXS9" EXACT ABBREVIATION [DOID:0060813, MONDO:Lexical, OMIM:300709, Orphanet:85324] synonym: "X-linked intellectual disability, Shrimpton type" RELATED [Orphanet:85324] xref: DOID:0060813 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85324", source="DOID:0060813", source="ORDO:85324/attributed", source="ORDO:85324/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85324/attributed", source="Orphanet:85324/ntbt", source="Orphanet:85324", source="DOID:0060813"} xref: MESH:C567474 {source="MONDO:equivalentTo"} -xref: OMIM:300709 {source="ORDO:85324/e", source="Orphanet:85324", source="MONDO:equivalentTo", source="DOID:0060813"} +xref: OMIM:300709 {source="Orphanet:85324", source="MONDO:equivalentTo", source="DOID:0060813", source="Orphanet:85324/e"} xref: Orphanet:85324 {source="OMIM:300709", source="MONDO:equivalentTo", source="DOID:0060813"} xref: UMLS:C2678039 {source="NCBI:mim2gene_medline", source="OMIM:300709", source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="DC-OMIM:300709", source="DOID:0060813", source="OMIM:300709", source="Orphanet:85324"} ! X-linked syndromic intellectual disability @@ -202022,9 +201984,9 @@ def: "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, h subset: ordo_disease {source="Orphanet:163979"} synonym: "craniofacioskeletal syndrome" RELATED [OMIM:300712] synonym: "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300712, OMIM:genemap2] -xref: ICD10CM:Q87.8 {source="ORDO:163979/attributed", source="ORDO:163979/ntbt", source="Orphanet:163979"} +xref: ICD10CM:Q87.8 {source="Orphanet:163979/attributed", source="Orphanet:163979/ntbt", source="Orphanet:163979"} xref: MESH:C567471 {source="MONDO:equivalentTo"} -xref: OMIM:300712 {source="MONDO:equivalentTo", source="Orphanet:163979", source="ORDO:163979/e"} +xref: OMIM:300712 {source="Orphanet:163979/e", source="MONDO:equivalentTo", source="Orphanet:163979"} xref: Orphanet:163979 {source="MONDO:equivalentTo", source="OMIM:300712"} xref: UMLS:C2678036 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300712"} is_a: MONDO:0020119 {source="Orphanet:163979"} ! X-linked syndromic intellectual disability @@ -202057,7 +202019,7 @@ xref: MESH:C567469 {source="MONDO:equivalentTo"} xref: OMIM:300717 {source="MONDO:equivalentTo"} xref: Orphanet:97239 {source="MONDO:subClassOf", source="OMIM:300717"} xref: UMLS:C2678027 {source="OMIM:300717", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019948 {source="ORDO:97239/btnt"} ! reducing body myopathy +is_a: MONDO:0019948 {source="Orphanet:97239/btnt"} ! reducing body myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3702 {source="mim2gene_medgen"} ! FHL1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.9259259259259254" xsd:double @@ -202072,7 +202034,7 @@ xref: MESH:C567468 {source="MONDO:equivalentTo"} xref: OMIM:300718 {source="MONDO:equivalentTo"} xref: Orphanet:97239 {source="MONDO:subClassOf", source="OMIM:300718"} xref: UMLS:C2678015 {source="OMIM:300718", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019948 {source="ORDO:97239/btnt"} ! reducing body myopathy +is_a: MONDO:0019948 {source="Orphanet:97239/btnt"} ! reducing body myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3702 {source="mim2gene_medgen"} ! FHL1 property_value: confidence "0.9259259259259254" xsd:double @@ -202108,9 +202070,9 @@ synonym: "X-linked intellectual disability, Najm type" RELATED [Orphanet:163937] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [DOID:0060807, Orphanet:163937] xref: DOID:0060807 {source="MONDO:equivalentTo"} xref: GARD:0012669 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:163937", source="DOID:0060807", source="ORDO:163937/attributed", source="ORDO:163937/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:163937", source="DOID:0060807", source="Orphanet:163937/attributed", source="Orphanet:163937/ntbt"} xref: MESH:C567466 {source="MONDO:equivalentTo"} -xref: OMIM:300749 {source="Orphanet:163937", source="DOID:0060807", source="ORDO:163937/e", source="MONDO:equivalentTo"} +xref: OMIM:300749 {source="Orphanet:163937", source="DOID:0060807", source="MONDO:equivalentTo", source="Orphanet:163937/e"} xref: Orphanet:163937 {source="DOID:0060807", source="OMIM:300749", source="MONDO:equivalentTo"} xref: UMLS:C2677903 {source="Orphanet:163937", source="OMIM:300749", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020022 ! central nervous system malformation @@ -202134,12 +202096,12 @@ synonym: "SPG34" EXACT ABBREVIATION [DOID:0110785, MONDO:Lexical, OMIM:300750, O synonym: "X-linked spastic paraplegia 34" EXACT [DOID:0110785] synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785] xref: DOID:0110785 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:171607", source="ORDO:171607/attributed", source="ORDO:171607/ntbt", source="DOID:0110785"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:171607/attributed", source="Orphanet:171607/ntbt", source="Orphanet:171607", source="DOID:0110785"} xref: MESH:C567465 {source="MONDO:equivalentTo"} -xref: OMIM:300750 {source="ORDO:171607/e", source="Orphanet:171607", source="MONDO:equivalentTo", source="DOID:0110785"} +xref: OMIM:300750 {source="Orphanet:171607", source="MONDO:equivalentTo", source="Orphanet:171607/e", source="DOID:0110785"} xref: Orphanet:171607 {source="MONDO:equivalentTo", source="OMIM:300750", source="DOID:0110785"} xref: SCTID:763370008 {source="MONDO:equivalentTo"} -xref: UMLS:C2677897 {source="ORDO:171607/e", source="NCBI:mim2gene_medline", source="Orphanet:171607", source="MONDO:equivalentTo", source="OMIM:300750"} +xref: UMLS:C2677897 {source="NCBI:mim2gene_medline", source="Orphanet:171607", source="MONDO:equivalentTo", source="OMIM:300750", source="Orphanet:171607/e"} is_a: MONDO:0017912 {source="Orphanet:171607"} ! X-linked pure spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110785", source="MESH:C567465", source="MONDO:Redundant", source="OMIM:300750", source="Orphanet:171607/inferred"} ! hereditary spastic paraplegia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -202169,9 +202131,9 @@ synonym: "XLEPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300752] synonym: "XLP" EXACT ABBREVIATION [Orphanet:443197] synonym: "XLPP" EXACT ABBREVIATION [Orphanet:443197] xref: GARD:0010915 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.0 {source="ORDO:443197/attributed", source="ORDO:443197/ntbt", source="Orphanet:443197"} +xref: ICD10CM:E80.0 {source="Orphanet:443197/attributed", source="Orphanet:443197/ntbt", source="Orphanet:443197"} xref: MESH:C567464 {source="MONDO:equivalentTo"} -xref: OMIM:300752 {source="MONDO:equivalentTo", source="ORDO:443197/e", source="Orphanet:443197"} +xref: OMIM:300752 {source="Orphanet:443197/e", source="MONDO:equivalentTo", source="Orphanet:443197"} xref: Orphanet:443197 {source="MONDO:equivalentTo"} xref: Orphanet:79278 {source="MONDO:subClassOf", source="OMIM:300752", source="MONDO:directSiblingOf"} xref: UMLS:C2677889 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300752", source="Orphanet:443197"} @@ -202207,18 +202169,18 @@ synonym: "X-linked agammaglobulinemia" EXACT [NCIT:C3822] synonym: "XLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300755] xref: DOID:14179 {source="MONDO:equivalentTo"} xref: GARD:0001033 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D80.0 {source="Orphanet:47", source="ORDO:47/ntbt", source="ORDO:47/inclusion"} -xref: MedDRA:10060360 {source="Orphanet:47", source="ORDO:47/e"} -xref: MESH:C537409 {source="Orphanet:47", source="ORDO:47/e", source="MONDO:equivalentTo", source="DOID:14179"} +xref: ICD10CM:D80.0 {source="Orphanet:47/ntbt", source="Orphanet:47/inclusion", source="Orphanet:47"} +xref: MedDRA:10060360 {source="Orphanet:47", source="Orphanet:47/e"} +xref: MESH:C537409 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"} xref: NCIT:C3822 {source="MONDO:equivalentTo", source="DOID:14179"} -xref: OMIM:300310 {source="Orphanet:47", source="ORDO:47/btnt", source="MONDO:superClassOf", source="DOID:14179"} -xref: OMIM:300755 {source="Orphanet:47", source="ORDO:47/e", source="MONDO:equivalentTo", source="DOID:14179"} +xref: OMIM:300310 {source="Orphanet:47/btnt", source="Orphanet:47", source="MONDO:superClassOf", source="DOID:14179"} +xref: OMIM:300755 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:300755"} xref: Orphanet:47 {source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755"} xref: SCTID:116133005 {source="DOID:14179"} xref: SCTID:190983003 {source="DOID:14179"} xref: SCTID:65880007 {source="MONDO:equivalentTo", source="DOID:14179"} -xref: UMLS:C0221026 {source="Orphanet:47", source="NCBI:mim2gene_medline", source="ORDO:47/e", source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755", source="NCIT:C3822"} +xref: UMLS:C0221026 {source="Orphanet:47", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755", source="Orphanet:47/e", source="NCIT:C3822"} xref: UMLS:C0241932 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300755"} is_a: MONDO:0016462 {source="Orphanet:47"} ! isolated agammaglobulinemia is_a: MONDO:0021094 {source="OMIM:300755"} ! immunodeficiency disease @@ -202270,7 +202232,7 @@ xref: MESH:C567461 {source="MONDO:equivalentTo"} xref: OMIM:300770 {source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="MONDO:subClassOf", source="OMIM:300770"} xref: UMLS:C2677877 {source="NCBI:mim2gene_medline", source="OMIM:300770", source="MONDO:equivalentTo"} -is_a: MONDO:0012580 {source="OMIM:300770", source="ORDO:264675/btnt"} ! hereditary pulmonary alveolar proteinosis +is_a: MONDO:0012580 {source="OMIM:300770", source="Orphanet:264675/btnt"} ! hereditary pulmonary alveolar proteinosis property_value: confidence "0.025156250000000213" xsd:double [Term] @@ -202286,9 +202248,9 @@ synonym: "corneal dystrophy, Lisch epithelial, X-linked dominant" EXACT [OMIM:30 synonym: "LECD" EXACT ABBREVIATION [DOID:0060450, MONDO:Lexical, OMIM:300778, Orphanet:98955] synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778] xref: DOID:0060450 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="ORDO:98955/attributed", source="ORDO:98955/ntbt"} +xref: ICD10CM:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="Orphanet:98955/attributed", source="Orphanet:98955/ntbt"} xref: MESH:C567588 {source="DOID:0060450", source="MONDO:equivalentTo"} -xref: OMIM:300778 {source="DOID:0060450", source="ORDO:98955/e", source="MONDO:equivalentTo", source="Orphanet:98955"} +xref: OMIM:300778 {source="DOID:0060450", source="MONDO:equivalentTo", source="Orphanet:98955", source="Orphanet:98955/e"} xref: Orphanet:98955 {source="DOID:0060450", source="MONDO:equivalentTo", source="OMIM:300778"} xref: SCTID:724175002 {source="MONDO:equivalentTo"} xref: UMLS:C2749050 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98955", source="OMIM:300778"} @@ -202307,9 +202269,9 @@ synonym: "corneal dystrophy, endothelial, X-linked, X-linked dominant" EXACT [OM synonym: "endothelial corneal dystrophy, X-linked" RELATED [OMIM:300779] synonym: "XECD" EXACT ABBREVIATION [DOID:0060446, MONDO:Lexical, OMIM:300779, Orphanet:293621] xref: DOID:0060446 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="ORDO:293621/attributed", source="ORDO:293621/ntbt", source="DOID:0060446", source="Orphanet:293621"} +xref: ICD10CM:H18.5 {source="DOID:0060446", source="Orphanet:293621", source="Orphanet:293621/attributed", source="Orphanet:293621/ntbt"} xref: MESH:C567587 {source="DOID:0060446", source="MONDO:equivalentTo"} -xref: OMIM:300779 {source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621", source="ORDO:293621/e"} +xref: OMIM:300779 {source="Orphanet:293621/e", source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621"} xref: Orphanet:293621 {source="DOID:0060446", source="MONDO:equivalentTo", source="OMIM:300779"} xref: SCTID:718579008 {source="MONDO:equivalentTo"} xref: UMLS:C2749049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:293621", source="OMIM:300779"} @@ -202348,9 +202310,9 @@ synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [DOID:0060461] synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461, Orphanet:217377] xref: DOID:0060461 {source="MONDO:equivalentTo"} xref: GARD:0012766 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q99.8 {source="DOID:0060461", source="Orphanet:217377", source="ORDO:217377/attributed", source="ORDO:217377/ntbt"} +xref: ICD10CM:Q99.8 {source="DOID:0060461", source="Orphanet:217377/attributed", source="Orphanet:217377/ntbt", source="Orphanet:217377"} xref: MESH:C567585 {source="MONDO:equivalentTo"} -xref: OMIM:300801 {source="DOID:0060461", source="MONDO:equivalentTo", source="Orphanet:217377", source="ORDO:217377/e"} +xref: OMIM:300801 {source="DOID:0060461", source="Orphanet:217377/e", source="MONDO:equivalentTo", source="Orphanet:217377"} xref: Orphanet:217377 {source="DOID:0060461", source="MONDO:equivalentTo", source="OMIM:300801"} xref: SCTID:721881008 {source="MONDO:equivalentTo"} xref: UMLS:C2749022 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300801", source="Orphanet:217377"} @@ -202482,18 +202444,18 @@ xref: DOID:5485 {source="EFO:0001376", source="MONDO:equivalentTo"} xref: EFO:0001376 {source="MONDO:equivalentTo"} xref: GARD:0007721 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0012570 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="Orphanet:3273", source="ORDO:3273/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:3273/ntbt", source="Orphanet:3273"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9040/3 {source="NCIT:C3400"} -xref: MedDRA:10042863 {source="Orphanet:3273", source="ORDO:3273/e"} +xref: MedDRA:10042863 {source="Orphanet:3273/e", source="Orphanet:3273"} xref: MESH:D013584 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"} xref: NCIT:C3400 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"} -xref: OMIM:300813 {source="EFO:0001376", source="MONDO:equivalentTo", source="Orphanet:3273", source="ORDO:3273/e", source="DOID:5485"} +xref: OMIM:300813 {source="Orphanet:3273/e", source="EFO:0001376", source="MONDO:equivalentTo", source="Orphanet:3273", source="DOID:5485"} xref: ONCOTREE:SYNS {source="MONDO:equivalentTo"} xref: Orphanet:3273 {source="MONDO:equivalentTo", source="OMIM:300813"} xref: SCTID:302851001 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"} xref: SCTID:63211008 {source="EFO:0001376", source="DOID:5485"} -xref: UMLS:C0039101 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3400", source="Orphanet:3273", source="ORDO:3273/e", source="DOID:5485", source="OMIM:300813"} +xref: UMLS:C0039101 {source="Orphanet:3273/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3400", source="Orphanet:3273", source="DOID:5485", source="OMIM:300813"} is_a: MONDO:0005089 {source="DC-OMIM:300813", source="EFO:0001376", source="MESH:D013584", source="MONDO:Redundant", source="NCIT:C3400/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C3400", source="Orphanet:3273", source="linkedlifedata"} ! soft tissue sarcoma relationship: excluded_subClassOf MONDO:0002403 {source="DOID:5485", source="synovial sarcomas are not necessarily of synovial origin"} ! synovium cancer @@ -202524,7 +202486,7 @@ xref: OMIM:300815 {source="MONDO:equivalentTo"} xref: Orphanet:1762 {source="MONDO:subClassOf", source="OMIM:300815"} xref: UMLS:C2749007 {source="OMIM:300815", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="DC-OMIM:300815"} ! syndrome caused by partial chromosomal duplication -is_a: MONDO:0010283 {source="ORDO:1762/btnt"} ! syndromic X-linked intellectual disability Lubs type +is_a: MONDO:0010283 {source="Orphanet:1762/btnt"} ! syndromic X-linked intellectual disability Lubs type intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chrXq28 ! Xq28 (Human) relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3492 @@ -202543,8 +202505,8 @@ synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [OMIM:300816] synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [Orphanet:238329] synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [Orphanet:238329] xref: DOID:0111502 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="Orphanet:238329", source="ORDO:238329/attributed", source="ORDO:238329/ntbt"} -xref: OMIM:300816 {source="Orphanet:238329", source="ORDO:238329/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G31.8 {source="Orphanet:238329/attributed", source="Orphanet:238329/ntbt", source="Orphanet:238329"} +xref: OMIM:300816 {source="Orphanet:238329", source="MONDO:equivalentTo", source="Orphanet:238329/e"} xref: Orphanet:238329 {source="OMIM:300816", source="MONDO:equivalentTo"} xref: SCTID:722212004 {source="MONDO:equivalentTo"} xref: UMLS:C3151753 {source="OMIM:300816", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -202623,7 +202585,7 @@ synonym: "CK syndrome, X-linked recessive" EXACT [OMIM:300831, OMIM:genemap2] synonym: "intellectual disability, X-linked, with thin body habitus and cortical malformation" RELATED [OMIM:300831] synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED DEPRECATED [OMIM:300831] synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [Orphanet:251383] -xref: OMIM:300831 {source="ORDO:251383/e", source="Orphanet:251383", source="MONDO:equivalentTo"} +xref: OMIM:300831 {source="Orphanet:251383", source="MONDO:equivalentTo", source="Orphanet:251383/e"} xref: Orphanet:251383 {source="MONDO:equivalentTo", source="OMIM:300831"} xref: UMLS:C3151781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300831"} is_a: MONDO:0000508 {source="Orphanet:251383", source="Orphanet:251383/inferred"} ! syndromic intellectual disability @@ -202649,7 +202611,7 @@ xref: OMIM:300833 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="MONDO:subClassOf", source="OMIM:300833"} xref: UMLS:C3151782 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300833"} xref: UMLS:C3151783 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300833"} -is_a: MONDO:0100249 {source="ORDO:393/btnt"} ! 46,XX testicular disorder of sex development +is_a: MONDO:0100249 {source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.3325714285714296" xsd:double @@ -202672,8 +202634,8 @@ subset: ordo_disease {source="Orphanet:363727"} synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical, OMIM:300835] synonym: "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" EXACT [OMIM:300835, OMIM:genemap2] synonym: "XLANP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300835] -xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="ORDO:363727/attributed", source="ORDO:363727/ntbt", source="Orphanet:363727"} -xref: OMIM:300835 {source="MONDO:equivalentTo", source="ORDO:363727/e", source="Orphanet:363727"} +xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:363727/attributed", source="Orphanet:363727/ntbt", source="Orphanet:363727"} +xref: OMIM:300835 {source="Orphanet:363727/e", source="MONDO:equivalentTo", source="Orphanet:363727"} xref: Orphanet:363727 {source="MONDO:equivalentTo", source="OMIM:300835"} xref: UMLS:C3151785 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3550856 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300835"} @@ -202700,9 +202662,9 @@ synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical, OMIM:300843] synonym: "Bornholm eye disease" EXACT [Orphanet:90001] synonym: "Bornholm eye disease, X-linked recessive" EXACT [OMIM:300843, OMIM:genemap2] synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843] -xref: ICD10CM:H53.8 {source="Orphanet:90001", source="ORDO:90001/attributed", source="ORDO:90001/ntbt"} +xref: ICD10CM:H53.8 {source="Orphanet:90001", source="Orphanet:90001/attributed", source="Orphanet:90001/ntbt"} xref: MESH:C564092 {source="MONDO:equivalentTo"} -xref: OMIM:300843 {source="ORDO:90001/e", source="MONDO:equivalentTo", source="Orphanet:90001"} +xref: OMIM:300843 {source="MONDO:equivalentTo", source="Orphanet:90001", source="Orphanet:90001/e"} xref: Orphanet:90001 {source="MONDO:equivalentTo", source="OMIM:300843"} xref: SCTID:718718009 {source="MONDO:equivalentTo"} xref: UMLS:C3159311 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90001", source="OMIM:300843"} @@ -202744,7 +202706,7 @@ synonym: "moyamoya disease 4, X-linked recessive" EXACT [OMIM:300845, OMIM:genem synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679] synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300845] synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845] -xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="ORDO:280679/e"} +xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="Orphanet:280679/e"} xref: Orphanet:280679 {source="MONDO:equivalentTo", source="OMIM:300845"} xref: UMLS:C3151857 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300845"} is_a: MONDO:0015160 {source="Orphanet:280679", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -202874,8 +202836,8 @@ synonym: "X-linked magnesium deficiency with Epstein-Barr virus infection and ne synonym: "XMEN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300853, Orphanet:317476] xref: DOID:0080319 {source="MONDO:equivalentTo"} xref: GARD:0010907 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D81.8 {source="ORDO:317476/attributed", source="ORDO:317476/ntbt", source="Orphanet:317476"} -xref: OMIM:300853 {source="MONDO:equivalentTo", source="ORDO:317476/e", source="Orphanet:317476"} +xref: ICD10CM:D81.8 {source="Orphanet:317476/attributed", source="Orphanet:317476/ntbt", source="Orphanet:317476"} +xref: OMIM:300853 {source="Orphanet:317476/e", source="MONDO:equivalentTo", source="Orphanet:317476"} xref: Orphanet:317476 {source="MONDO:equivalentTo", source="OMIM:300853"} xref: SCTID:711481001 {source="MONDO:equivalentTo"} xref: UMLS:C3275445 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300853"} @@ -202893,7 +202855,7 @@ synonym: "renal cell carcinoma, Xp11-associated" EXACT [MONDO:Lexical, OMIM:3008 xref: OMIM:300854 {source="MONDO:equivalentTo"} xref: Orphanet:319308 {source="MONDO:subClassOf", source="OMIM:300854"} xref: UMLS:C3275446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300854"} -is_a: MONDO:0017886 {source="ORDO:319308/btnt"} ! MIT family translocation renal cell carcinoma +is_a: MONDO:0017886 {source="Orphanet:319308/btnt"} ! MIT family translocation renal cell carcinoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11752 {source="mim2gene_medgen"} ! TFE3 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "3.1086244689504383E-15" xsd:double @@ -202921,7 +202883,7 @@ xref: DOID:0050781 {source="MONDO:equivalentTo"} xref: GARD:0000188 {source="MONDO:equivalentTo"} xref: HGNC:7645 {source="GARD:0000188"} xref: MESH:C536107 {source="MONDO:equivalentTo"} -xref: OMIM:300855 {source="DOID:0050781", source="ORDO:276432/e", source="Orphanet:276432", source="MONDO:equivalentTo"} +xref: OMIM:300855 {source="DOID:0050781", source="Orphanet:276432", source="MONDO:equivalentTo", source="Orphanet:276432/e"} xref: Orphanet:276432 {source="MONDO:equivalentTo", source="OMIM:300855"} xref: UMLS:C2931113 {source="GARD:0000188", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3275447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300855"} @@ -202985,7 +202947,7 @@ synonym: "syndromic X-linked intellectual disability type 17" EXACT [DOID:006080 synonym: "X-linked intellectual disability with alacrima and achalasia" EXACT [DOID:0060803] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT DEPRECATED [DOID:0060803] xref: DOID:0060803 {source="MONDO:equivalentTo"} -xref: OMIM:300858 {source="MONDO:equivalentTo", source="ORDO:289483/e", source="DOID:0060803", source="Orphanet:289483"} +xref: OMIM:300858 {source="Orphanet:289483/e", source="MONDO:equivalentTo", source="DOID:0060803", source="Orphanet:289483"} xref: Orphanet:289483 {source="MONDO:equivalentTo", source="DOID:0060803", source="OMIM:300858"} xref: UMLS:C3275460 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300858"} is_a: MONDO:0020119 {source="DC-OMIM:300858", source="DOID:0060803", source="OMIM:300858"} ! X-linked syndromic intellectual disability @@ -203010,8 +202972,8 @@ synonym: "syndromic X-linked intellectual disability Nascimento type" EXACT CLIN synonym: "X-linked intellectual disability, Nascimento type" RELATED [Orphanet:163956] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [DOID:0060820, Orphanet:163956] xref: DOID:0060820 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="DOID:0060820", source="ORDO:163956/attributed", source="ORDO:163956/ntbt", source="Orphanet:163956"} -xref: OMIM:300860 {source="DOID:0060820", source="MONDO:equivalentTo", source="ORDO:163956/e", source="Orphanet:163956"} +xref: ICD10CM:Q87.8 {source="DOID:0060820", source="Orphanet:163956/attributed", source="Orphanet:163956/ntbt", source="Orphanet:163956"} +xref: OMIM:300860 {source="Orphanet:163956/e", source="DOID:0060820", source="MONDO:equivalentTo", source="Orphanet:163956"} xref: Orphanet:163956 {source="DOID:0060820", source="MONDO:equivalentTo", source="OMIM:300860"} xref: UMLS:C3275464 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300860"} is_a: MONDO:0020119 {source="DC-OMIM:300860", source="DOID:0060820", source="OMIM:300860", source="Orphanet:163956"} ! X-linked syndromic intellectual disability @@ -203045,8 +203007,8 @@ subset: ordo_disease {source="Orphanet:163966"} synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [OMIM:300863] synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" EXACT [OMIM:300863, OMIM:genemap2] synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [Orphanet:163966] -xref: ICD10CM:Q87.8 {source="Orphanet:163966", source="ORDO:163966/attributed", source="ORDO:163966/ntbt"} -xref: OMIM:300863 {source="MONDO:equivalentTo", source="Orphanet:163966", source="ORDO:163966/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:163966/attributed", source="Orphanet:163966/ntbt", source="Orphanet:163966"} +xref: OMIM:300863 {source="Orphanet:163966/e", source="MONDO:equivalentTo", source="Orphanet:163966"} xref: Orphanet:163966 {source="MONDO:equivalentTo", source="OMIM:300863"} xref: SCTID:719837003 {source="MONDO:equivalentTo"} xref: UMLS:C3275476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300863"} @@ -203064,8 +203026,8 @@ synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [OMIM:300864] synonym: "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" EXACT [OMIM:300864, OMIM:genemap2] synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [Orphanet:163961] synonym: "X-linked intellectual disability, Kroes type" EXACT [Orphanet:163961] -xref: ICD10CM:Q87.8 {source="ORDO:163961/attributed", source="ORDO:163961/ntbt", source="Orphanet:163961"} -xref: OMIM:300864 {source="MONDO:equivalentTo", source="ORDO:163961/e", source="Orphanet:163961"} +xref: ICD10CM:Q87.8 {source="Orphanet:163961", source="Orphanet:163961/attributed", source="Orphanet:163961/ntbt"} +xref: OMIM:300864 {source="MONDO:equivalentTo", source="Orphanet:163961", source="Orphanet:163961/e"} xref: Orphanet:163961 {source="MONDO:equivalentTo", source="OMIM:300864"} xref: UMLS:C3275487 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300864"} is_a: MONDO:0020022 ! central nervous system malformation @@ -203111,8 +203073,8 @@ synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disabil synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080139 {source="MONDO:equivalentTo"} xref: GARD:0012777 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:300496", source="ORDO:300496/attributed", source="ORDO:300496/ntbt"} -xref: OMIM:300868 {source="Orphanet:300496", source="MONDO:equivalentTo", source="DOID:0080139", source="ORDO:300496/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:300496", source="Orphanet:300496/attributed", source="Orphanet:300496/ntbt"} +xref: OMIM:300868 {source="Orphanet:300496", source="MONDO:equivalentTo", source="Orphanet:300496/e", source="DOID:0080139"} xref: Orphanet:300496 {source="MONDO:equivalentTo", source="OMIM:300868"} xref: UMLS:C3275508 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300868"} is_a: MONDO:0002254 {source="DOID:0080139"} ! syndromic disease @@ -203141,8 +203103,8 @@ synonym: "dup(X)(q27.3q28)" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3-q28" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3q28" EXACT [Orphanet:261483] synonym: "Xq27.3-q28 microduplication syndrome" EXACT [Orphanet:261483] -xref: ICD10CM:Q99.8 {source="Orphanet:261483", source="ORDO:261483/attributed", source="ORDO:261483/ntbt"} -xref: OMIM:300869 {source="ORDO:261483/e", source="Orphanet:261483", source="MONDO:equivalentTo"} +xref: ICD10CM:Q99.8 {source="Orphanet:261483/attributed", source="Orphanet:261483/ntbt", source="Orphanet:261483"} +xref: OMIM:300869 {source="Orphanet:261483", source="MONDO:equivalentTo", source="Orphanet:261483/e"} xref: Orphanet:261483 {source="MONDO:equivalentTo", source="OMIM:300869"} xref: UMLS:C3275521 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300869"} is_a: MONDO:0000762 {source="DC-OMIM:300869", source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -203227,8 +203189,8 @@ synonym: "EIEE36" EXACT ABBREVIATION [OMIM:300884] synonym: "epileptic encephalopathy, early infantile, 36" EXACT [OMIM:300884] xref: DOID:0080470 {source="MONDO:equivalentTo"} xref: GARD:0012401 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:324422", source="ORDO:324422/attributed", source="ORDO:324422/ntbt"} -xref: OMIM:300884 {source="Orphanet:324422", source="MONDO:equivalentTo", source="ORDO:324422/nd"} +xref: ICD10CM:E77.8 {source="Orphanet:324422", source="Orphanet:324422/attributed", source="Orphanet:324422/ntbt"} +xref: OMIM:300884 {source="Orphanet:324422", source="Orphanet:324422/nd", source="MONDO:equivalentTo"} xref: Orphanet:324422 {source="MONDO:equivalentTo", source="OMIM:300884"} xref: SCTID:733451007 {source="MONDO:equivalentTo"} xref: UMLS:C3550904 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300884"} @@ -203256,7 +203218,7 @@ synonym: "mental retardation, X-linked, syndromic 32" EXACT DEPRECATED [DOID:006 synonym: "mental retardation, X-linked, syndromic type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:300886] synonym: "MRXS32" EXACT ABBREVIATION [DOID:0060828, MONDO:Lexical, OMIM:300886] xref: DOID:0060828 {source="MONDO:equivalentTo"} -xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source="DOID:0060828", source="ORDO:324410/e"} +xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source="Orphanet:324410/e", source="DOID:0060828"} xref: Orphanet:324410 {source="MONDO:equivalentTo", source="OMIM:300886", source="DOID:0060828"} xref: UMLS:C3550913 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300886"} is_a: MONDO:0015110 {source="Orphanet:324410"} ! genetic cardiac rhythm disease @@ -203279,7 +203241,7 @@ synonym: "microphthalmia with linear skin defects syndrome caused by mutation in xref: OMIM:300887 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="MONDO:subClassOf", source="OMIM:300887"} xref: UMLS:C3550921 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300887"} -is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300887", source="ORDO:2556/btnt"} ! linear skin defects with multiple congenital anomalies +is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300887", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2291 ! COX7B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2291 {source="mim2gene_medgen"} ! COX7B @@ -203301,9 +203263,9 @@ synonym: "Immunoglobulin superfamily member 1 deficiency syndrome" EXACT [NCIT:C synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [DOID:0111140, Orphanet:329235] synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140] xref: DOID:0111140 {source="MONDO:equivalentTo"} -xref: ICD10CM:E03.1 {source="ORDO:329235/attributed", source="ORDO:329235/ntbt", source="DOID:0111140", source="Orphanet:329235"} +xref: ICD10CM:E03.1 {source="DOID:0111140", source="Orphanet:329235/attributed", source="Orphanet:329235/ntbt", source="Orphanet:329235"} xref: NCIT:C130989 {source="MONDO:equivalentTo"} -xref: OMIM:300888 {source="DOID:0111140", source="MONDO:equivalentTo", source="ORDO:329235/e", source="Orphanet:329235"} +xref: OMIM:300888 {source="Orphanet:329235/e", source="DOID:0111140", source="MONDO:equivalentTo", source="Orphanet:329235"} xref: Orphanet:329235 {source="DOID:0111140", source="MONDO:equivalentTo", source="OMIM:300888"} xref: UMLS:C3550963 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300888"} is_a: MONDO:0000425 {source="DOID:0111140"} ! X-linked disease @@ -203335,8 +203297,8 @@ synonym: "static encephalopathy of childhood with neurodegeneration in adulthood synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110739 {source="MONDO:equivalentTo"} xref: GARD:0012570 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G23.0 {source="ORDO:329284/attributed", source="ORDO:329284/ntbt", source="Orphanet:329284", source="DOID:0110739"} -xref: OMIM:300894 {source="ORDO:329284/e", source="MONDO:equivalentTo", source="Orphanet:329284", source="DOID:0110739"} +xref: ICD10CM:G23.0 {source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/attributed", source="Orphanet:329284/ntbt"} +xref: OMIM:300894 {source="MONDO:equivalentTo", source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/e"} xref: Orphanet:329284 {source="MONDO:equivalentTo", source="OMIM:300894", source="DOID:0110739"} xref: SCTID:732959007 {source="MONDO:equivalentTo"} xref: UMLS:C3550973 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300894"} @@ -203362,7 +203324,7 @@ synonym: "Ohdo syndrome, X-linked, X-linked recessive" EXACT [OMIM:300895, OMIM: synonym: "OHDOX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300895] synonym: "X-linked Ohdo syndrome" EXACT [Orphanet:293707] xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:300895 {source="ORDO:293707/e", source="Orphanet:293707", source="MONDO:equivalentTo"} +xref: OMIM:300895 {source="Orphanet:293707", source="MONDO:equivalentTo", source="Orphanet:293707/e"} xref: Orphanet:293707 {source="MONDO:equivalentTo", source="OMIM:300895"} xref: SCTID:699297004 {source="MONDO:equivalentTo"} xref: UMLS:C3698541 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300895"} @@ -203392,8 +203354,8 @@ synonym: "epileptic encephalopathy, early infantile, 22; EIEE22" RELATED [GARD:0 synonym: "SLC35A2-CDG" EXACT CLINGEN_PREFERRED [] xref: DOID:0070265 {source="MONDO:equivalentTo"} xref: GARD:0012403 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="Orphanet:356961", source="ORDO:356961/attributed", source="ORDO:356961/ntbt"} -xref: OMIM:300896 {source="ORDO:356961/e", source="Orphanet:356961", source="MONDO:equivalentTo"} +xref: ICD10CM:E77.8 {source="Orphanet:356961/attributed", source="Orphanet:356961/ntbt", source="Orphanet:356961"} +xref: OMIM:300896 {source="Orphanet:356961", source="MONDO:equivalentTo", source="Orphanet:356961/e"} xref: Orphanet:356961 {source="MONDO:equivalentTo", source="OMIM:300896"} xref: UMLS:C3806688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300896"} is_a: MONDO:0005501 {source="DC-OMIM:300896", source="OMIM:300896"} ! congenital disorder of glycosylation type II @@ -203424,8 +203386,8 @@ synonym: "CMTX6" EXACT ABBREVIATION [DOID:0110207, MONDO:Lexical, OMIM:300905, O synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207] xref: DOID:0110207 {source="MONDO:equivalentTo"} xref: GARD:0012445 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="DOID:0110207", source="ORDO:352675/attributed", source="ORDO:352675/ntbt", source="Orphanet:352675"} -xref: OMIM:300905 {source="ORDO:352675/e", source="DOID:0110207", source="MONDO:equivalentTo", source="Orphanet:352675"} +xref: ICD10CM:G60.0 {source="DOID:0110207", source="Orphanet:352675", source="Orphanet:352675/attributed", source="Orphanet:352675/ntbt"} +xref: OMIM:300905 {source="DOID:0110207", source="MONDO:equivalentTo", source="Orphanet:352675", source="Orphanet:352675/e"} xref: Orphanet:352675 {source="OMIM:300905", source="DOID:0110207", source="MONDO:equivalentTo"} xref: SCTID:763347000 {source="MONDO:equivalentTo"} xref: UMLS:C3806702 {source="OMIM:300905", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -203501,8 +203463,8 @@ subset: ordo_disease {source="Orphanet:363654"} synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical, OMIM:300911] synonym: "Parkinsonism with spasticity, X-linked, X-linked recessive" EXACT [OMIM:300911, OMIM:genemap2] synonym: "XPDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300911, Orphanet:363654] -xref: ICD10CM:G20 {source="ORDO:363654/attributed", source="ORDO:363654/ntbt", source="Orphanet:363654"} -xref: OMIM:300911 {source="MONDO:equivalentTo", source="Orphanet:363654", source="ORDO:363654/e"} +xref: ICD10CM:G20 {source="Orphanet:363654", source="Orphanet:363654/attributed", source="Orphanet:363654/ntbt"} +xref: OMIM:300911 {source="MONDO:equivalentTo", source="Orphanet:363654", source="Orphanet:363654/e"} xref: Orphanet:363654 {source="MONDO:equivalentTo", source="OMIM:300911"} xref: UMLS:C3806722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300911"} is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder @@ -203522,8 +203484,8 @@ synonym: "intellectual disability, X-linked type 98" EXACT [MONDORULE:2, OMIM:30 synonym: "mental retardation, X-linked 98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] synonym: "mental retardation, X-linked type 98" EXACT DEPRECATED [MONDORULE:2, OMIM:300912] synonym: "MRX98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] -xref: ICD10CM:Q87.8 {source="Orphanet:85277", source="ORDO:85277/attributed", source="ORDO:85277/ntbt"} -xref: OMIM:300912 {source="Orphanet:85277", source="MONDO:equivalentTo", source="ORDO:85277/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:85277", source="Orphanet:85277/attributed", source="Orphanet:85277/ntbt"} +xref: OMIM:300912 {source="Orphanet:85277", source="MONDO:equivalentTo", source="Orphanet:85277/e"} xref: Orphanet:85277 {source="MONDO:equivalentTo", source="OMIM:300912"} xref: SCTID:719016007 {source="MONDO:equivalentTo"} xref: UMLS:C3806730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300912"} @@ -203567,8 +203529,8 @@ synonym: "MCOPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300915] synonym: "microphthalmia, syndromic 13" RELATED [MONDO:Lexical, OMIM:300915] synonym: "microphthalmia, syndromic type 13" EXACT [MONDORULE:2, OMIM:300915] synonym: "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome" EXACT [Orphanet:431140] -xref: ICD10CM:Q87.0 {source="Orphanet:431140", source="ORDO:431140/attributed", source="ORDO:431140/ntbt"} -xref: OMIM:300915 {source="MONDO:equivalentTo", source="Orphanet:431140", source="ORDO:431140/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:431140/attributed", source="Orphanet:431140/ntbt", source="Orphanet:431140"} +xref: OMIM:300915 {source="Orphanet:431140/e", source="MONDO:equivalentTo", source="Orphanet:431140"} xref: Orphanet:431140 {source="OMIM:300915", source="MONDO:equivalentTo"} xref: UMLS:C3806742 {source="OMIM:300915", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:431140"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -203672,8 +203634,8 @@ synonym: "congenital disorder of glycosylation, type Iy" RELATED [MONDO:Lexical, synonym: "congenital disorder of glycosylation, type Iy, X-linked recessive" EXACT [OMIM:300934, OMIM:genemap2] xref: DOID:0070257 {source="MONDO:equivalentTo"} xref: GARD:0012405 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:370927", source="ORDO:370927/attributed", source="ORDO:370927/ntbt"} -xref: OMIM:300934 {source="ORDO:370927/e", source="Orphanet:370927", source="MONDO:equivalentTo"} +xref: ICD10CM:E77.8 {source="Orphanet:370927/attributed", source="Orphanet:370927/ntbt", source="Orphanet:370927"} +xref: OMIM:300934 {source="Orphanet:370927", source="MONDO:equivalentTo", source="Orphanet:370927/e"} xref: Orphanet:370927 {source="MONDO:equivalentTo", source="OMIM:300934"} xref: SCTID:733115009 {source="MONDO:equivalentTo"} xref: UMLS:C4012395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -203698,8 +203660,8 @@ synonym: "familial infantile gigantism due to dup(X)q(26)" EXACT [Orphanet:44837 synonym: "familial infantile gigantism due to Xq26 microduplication" EXACT [Orphanet:448372] synonym: "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" EXACT [Orphanet:448372] synonym: "X-linked acrogigantism" RELATED [OMIM:300942] -xref: ICD10CM:E22.0 {source="ORDO:448372/attributed", source="ORDO:448372/ntbt", source="Orphanet:448372"} -xref: OMIM:300942 {source="MONDO:equivalentTo", source="ORDO:448372/e", source="Orphanet:448372"} +xref: ICD10CM:E22.0 {source="Orphanet:448372", source="Orphanet:448372/attributed", source="Orphanet:448372/ntbt"} +xref: OMIM:300942 {source="MONDO:equivalentTo", source="Orphanet:448372", source="Orphanet:448372/e"} xref: Orphanet:300373 {source="MONDO:subClassOf", source="OMIM:300942"} xref: Orphanet:448372 {source="MONDO:equivalentObsolete"} xref: SCTID:768472004 {source="MONDO:equivalentTo"} @@ -203737,7 +203699,7 @@ is_a: MONDO:0017824 {source="MONDO:Redundant", source="OMIM:300943", source="ind intersection_of: MONDO:0017824 ! familial isolated pituitary adenoma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14963 ! GPR101 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14963 {source="mim2gene_medgen"} ! GPR101 -relationship: excluded_subClassOf MONDO:0019933 {source="ORDO:963/btnt"} ! acromegaly +relationship: excluded_subClassOf MONDO:0019933 {source="Orphanet:963/btnt"} ! acromegaly relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.3500000000000001" xsd:double @@ -203772,7 +203734,7 @@ synonym: "NDUFB11 microphthalmia with linear skin defects syndrome" EXACT [MONDO xref: OMIM:300952 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="MONDO:subClassOf", source="OMIM:300952"} xref: UMLS:C4225421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300952", source="ORDO:2556/btnt"} ! linear skin defects with multiple congenital anomalies +is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300952", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20372 ! NDUFB11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20372 {source="mim2gene_medgen"} ! NDUFB11 @@ -203810,7 +203772,7 @@ synonym: "mental retardation, X-linked 12" RELATED DEPRECATED [MONDO:Lexical, OM synonym: "mental retardation, X-linked 35" RELATED DEPRECATED [OMIM:300957] synonym: "mental retardation, X-linked type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:300957] synonym: "MRX12" RELATED DEPRECATED [MONDO:Lexical, OMIM:300957] -xref: OMIM:300957 {source="MONDO:equivalentTo", source="ORDO:457240/e", source="Orphanet:457240"} +xref: OMIM:300957 {source="Orphanet:457240/e", source="MONDO:equivalentTo", source="Orphanet:457240"} xref: Orphanet:457240 {source="MONDO:equivalentTo"} xref: UMLS:C0796218 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:457240"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -203853,8 +203815,8 @@ synonym: "Male EBP disorder with neurological defects" EXACT [Orphanet:401973] synonym: "MEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300960] synonym: "MEND syndrome" EXACT [MONDO:Lexical, OMIM:300960] synonym: "MEND syndrome, X-linked recessive" EXACT [OMIM:300960, OMIM:genemap2] -xref: ICD10CM:Q87.8 {source="Orphanet:401973", source="ORDO:401973/attributed", source="ORDO:401973/ntbt"} -xref: OMIM:300960 {source="ORDO:401973/e", source="Orphanet:401973", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:401973/attributed", source="Orphanet:401973/ntbt", source="Orphanet:401973"} +xref: OMIM:300960 {source="Orphanet:401973", source="MONDO:equivalentTo", source="Orphanet:401973/e"} xref: Orphanet:401973 {source="MONDO:equivalentTo", source="OMIM:300960"} xref: UMLS:C4085243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:401973"} ! syndromic intellectual disability @@ -203914,7 +203876,7 @@ synonym: "intellectual developmental disorder, X-linked syndromic 34" EXACT [OMI synonym: "intellectual disability, X-linked, syndromic 34" EXACT [DOID:0060817, OMIM:300967] synonym: "intellectual disability, X-linked, syndromic type 34" EXACT [MONDORULE:2, OMIM:300967] synonym: "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" RELATED [OMIM:300967] -synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [DOID:0060817, ORDO:466791] +synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [DOID:0060817, Orphanet:466791] synonym: "mental retardation, X-linked, syndromic 34" EXACT DEPRECATED [DOID:0060817, OMIM:300967] synonym: "mental retardation, X-linked, syndromic type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:300967] synonym: "mental retardation, X-linked, syndromic, Mircsof-Langouet type" RELATED DEPRECATED [OMIM:300967] @@ -204008,12 +203970,12 @@ synonym: "Scholte syndrome" EXACT [OMIM:300977] synonym: "Scholte-Begeer-van Essen syndrome" EXACT [Orphanet:3041] synonym: "SHLTS" EXACT ABBREVIATION [OMIM:300977] xref: GARD:0000257 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3041/attributed", source="ORDO:3041/ntbt", source="Orphanet:3041"} +xref: ICD10CM:Q87.8 {source="Orphanet:3041/attributed", source="Orphanet:3041/ntbt", source="Orphanet:3041"} xref: MESH:C536638 {source="MONDO:equivalentTo"} -xref: OMIM:300977 {source="MONDO:equivalentTo", source="ORDO:3041/e", source="Orphanet:3041"} +xref: OMIM:300977 {source="Orphanet:3041/e", source="MONDO:equivalentTo", source="Orphanet:3041"} xref: Orphanet:3041 {source="MONDO:equivalentTo"} xref: SCTID:722002002 {source="MONDO:equivalentTo"} -xref: UMLS:C1866985 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3041/e", source="Orphanet:3041"} +xref: UMLS:C1866985 {source="Orphanet:3041/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3041"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3041", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:3041"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019695 {source="Orphanet:3041"} ! acromelic dysplasia @@ -204131,7 +204093,7 @@ synonym: "vas deferens, congenital bilateral aplasia of, X-linked" EXACT [OMIM:3 synonym: "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX" EXACT [] xref: OMIM:300985 {source="MONDO:equivalentTo"} xref: UMLS:C4310815 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018801 {source="OMIM:300985", source="ORDO:48/btnt"} ! congenital bilateral absence of vas deferens +is_a: MONDO:0018801 {source="OMIM:300985", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4516 {source="mim2gene_medgen"} ! ADGRG2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.2222222222222219" xsd:double @@ -204240,17 +204202,17 @@ synonym: "Wiskott-Aldrich syndrome 1" EXACT [OMIM:301000] synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [OMIM:301000, OMIM:genemap2] xref: DOID:9169 {source="MONDO:equivalentTo"} xref: GARD:0007895 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.0 {source="MONDO:equivalentTo", source="ORDO:906/e", source="Orphanet:906", source="ORDO:906/specific", source="DOID:9169"} +xref: ICD10CM:D82.0 {source="Orphanet:906/e", source="Orphanet:906/specific", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} xref: ICD9:279.12 {source="DOID:9169"} -xref: MedDRA:10047992 {source="ORDO:906/e", source="Orphanet:906"} -xref: MESH:D014923 {source="MONDO:equivalentTo", source="ORDO:906/e", source="Orphanet:906", source="DOID:9169"} +xref: MedDRA:10047992 {source="Orphanet:906/e", source="Orphanet:906"} +xref: MESH:D014923 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} xref: NCIT:C3448 {source="MONDO:equivalentTo", source="DOID:9169"} -xref: OMIM:301000 {source="MONDO:equivalentTo", source="ORDO:906/e", source="Orphanet:906", source="DOID:9169"} -xref: OMIM:600903 {source="ORDO:906/btnt", source="MONDO:superClassOf", source="Orphanet:906"} -xref: OMIM:614493 {source="ORDO:906/btnt", source="MONDO:superClassOf", source="Orphanet:906"} +xref: OMIM:301000 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} +xref: OMIM:600903 {source="MONDO:superClassOf", source="Orphanet:906", source="Orphanet:906/btnt"} +xref: OMIM:614493 {source="MONDO:superClassOf", source="Orphanet:906", source="Orphanet:906/btnt"} xref: Orphanet:906 {source="OMIM:301000", source="MONDO:equivalentTo", source="OMIM:277970"} xref: SCTID:36070007 {source="MONDO:equivalentTo", source="DOID:9169"} -xref: UMLS:C0043194 {source="OMIM:301000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277970", source="ORDO:906/e", source="Orphanet:906", source="NCIT:C3448", source="DOID:9169"} +xref: UMLS:C0043194 {source="Orphanet:906/e", source="OMIM:301000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:277970", source="Orphanet:906", source="NCIT:C3448", source="DOID:9169"} is_a: MONDO:0000425 {source="DOID:9169", source="MESH:D014923"} ! X-linked disease is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0005093 ! skin disorder @@ -204297,13 +204259,13 @@ synonym: "ATRX syndrome" RELATED [GARD:0005864] synonym: "XLMR hypotonic face syndrome" RELATED [GARD:0005864] xref: DOID:0110030 {source="MONDO:equivalentTo"} xref: GARD:0005864 {source="MONDO:equivalentTo"} -xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="ORDO:847/attributed", source="ORDO:847/ntbt", source="Orphanet:847", source="DOID:0110030"} +xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/attributed", source="Orphanet:847/ntbt"} xref: MESH:C538258 {source="MONDO:equivalentTo"} xref: NCIT:C118631 {source="MONDO:equivalentTo"} -xref: OMIM:301040 {source="ORDO:847/e", source="MONDO:equivalentTo", source="Orphanet:847", source="DOID:0110030"} +xref: OMIM:301040 {source="MONDO:equivalentTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/e"} xref: Orphanet:847 {source="MONDO:equivalentTo", source="DOID:0110030", source="OMIM:301040"} xref: SCTID:715342005 {source="MONDO:equivalentTo"} -xref: UMLS:C1845055 {source="NCBI:mim2gene_medline", source="NCIT:C118631", source="ORDO:847/e", source="MONDO:equivalentTo", source="Orphanet:847", source="OMIM:301040"} +xref: UMLS:C1845055 {source="NCBI:mim2gene_medline", source="NCIT:C118631", source="MONDO:equivalentTo", source="Orphanet:847", source="Orphanet:847/e", source="OMIM:301040"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118631", source="indirect"} ! syndromic disease is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0016513 {source="Orphanet:847"} ! alpha-thalassemia-related diseases @@ -204333,13 +204295,13 @@ synonym: "nephropathy and deafness, X-linked" EXACT [DOID:0110034, OMIM:301050] synonym: "X-linked Alport syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0110034 {source="MONDO:equivalentTo"} xref: GARD:0005785 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:88917/attributed", source="ORDO:88917/ntbt", source="Orphanet:88917"} -xref: MedDRA:10001843 {source="ORDO:88917/e", source="Orphanet:88917"} -xref: OMIM:301050 {source="MONDO:equivalentTo", source="ORDO:88917/e", source="Orphanet:88917", source="DOID:0110034"} +xref: ICD10CM:Q87.8 {source="Orphanet:88917", source="Orphanet:88917/attributed", source="Orphanet:88917/ntbt"} +xref: MedDRA:10001843 {source="Orphanet:88917/e", source="Orphanet:88917"} +xref: OMIM:301050 {source="Orphanet:88917/e", source="MONDO:equivalentTo", source="Orphanet:88917", source="DOID:0110034"} xref: Orphanet:63 {source="MONDO:subClassOf", source="OMIM:301050"} xref: Orphanet:88917 {source="MONDO:equivalentTo", source="DOID:0110034", source="OMIM:301050"} xref: SCTID:717768004 {source="MONDO:equivalentTo"} -xref: UMLS:C1567742 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:88917/e", source="Orphanet:88917", source="OMIM:301050"} +xref: UMLS:C1567742 {source="Orphanet:88917/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88917", source="OMIM:301050"} is_a: MONDO:0000425 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! X-linked disease is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MONDO:Redundant", source="Orphanet:88917"} ! Alport syndrome intersection_of: MONDO:0018965 ! Alport syndrome @@ -204382,8 +204344,8 @@ xref: Orphanet:100033 {source="MONDO:subClassOf", source="OMIM:301200"} xref: UMLS:C1845052 {source="OMIM:301200", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1845053 {source="OMIM:301200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 -is_a: MONDO:0019507 {source="DOID:0110058", source="MONDO:Redundant", source="OMIM:301200", source="ORDO:88661/btnt", source="indirect"} ! amelogenesis imperfecta +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0019507 {source="DOID:0110058", source="MONDO:Redundant", source="OMIM:301200", source="Orphanet:88661/btnt", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/461 ! AMELX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/461 {source="mim2gene_medgen"} ! AMELX @@ -204432,10 +204394,10 @@ synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linke synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" EXACT [OMIM:301220, OMIM:genemap2] synonym: "X-linked cutaneous amyloidosis" EXACT [Orphanet:85453] synonym: "XLPDR" EXACT ABBREVIATION [Orphanet:85453] -xref: ICD10EXP:E85.0+ {source="Orphanet:85453", source="ORDO:85453/attributed", source="ORDO:85453/ntbt"} -xref: ICD10EXP:L99.0* {source="Orphanet:85453", source="ORDO:85453/attributed", source="ORDO:85453/ntbt"} +xref: ICD10EXP:E85.0+ {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} +xref: ICD10EXP:L99.0* {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} xref: MESH:C564461 {source="MONDO:equivalentTo"} -xref: OMIM:301220 {source="Orphanet:85453", source="MONDO:equivalentTo", source="ORDO:85453/e"} +xref: OMIM:301220 {source="Orphanet:85453", source="MONDO:equivalentTo", source="Orphanet:85453/e"} xref: Orphanet:85453 {source="OMIM:301220", source="MONDO:equivalentTo"} xref: SCTID:717224002 {source="MONDO:equivalentTo"} xref: UMLS:C0796250 {source="Orphanet:85453", source="MONDO:notFoundInDiseaseSubset"} @@ -204471,12 +204433,12 @@ synonym: "Xlsa-A" RELATED [MESH:C536358] xref: DOID:0050554 {source="MONDO:equivalentTo"} xref: DOID:0060064 {source="MONDO:equivalentObsolete"} xref: GARD:0000668 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D64.0 {source="ORDO:2802/attributed", source="ORDO:2802/ntbt", source="Orphanet:2802"} +xref: ICD10CM:D64.0 {source="Orphanet:2802/attributed", source="Orphanet:2802/ntbt", source="Orphanet:2802"} xref: MESH:C536358 {source="MONDO:equivalentTo"} -xref: OMIM:301310 {source="DOID:0050554", source="MONDO:equivalentTo", source="ORDO:2802/e", source="Orphanet:2802"} +xref: OMIM:301310 {source="Orphanet:2802/e", source="DOID:0050554", source="MONDO:equivalentTo", source="Orphanet:2802"} xref: Orphanet:2802 {source="OMIM:301310", source="MONDO:equivalentTo"} xref: SCTID:719816006 {source="MONDO:equivalentTo"} -xref: UMLS:C1845028 {source="OMIM:301310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2802/e", source="Orphanet:2802"} +xref: UMLS:C1845028 {source="Orphanet:2802/e", source="OMIM:301310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2802"} xref: UMLS:C4304338 {source="MONDO:equivalentTo"} is_a: MONDO:0015194 {source="DOID:0050554", source="DOID:0060064", source="MESH:C536358", source="MONDO:Redundant", source="Orphanet:2802/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sideroblastic anemia is_a: MONDO:0016612 {source="Orphanet:2802"} ! X-linked cerebellar ataxia @@ -204503,7 +204465,7 @@ xref: Orphanet:823 {source="MONDO:subClassOf", source="OMIM:301410"} xref: UMLS:C1845026 {source="MONDO:equivalentTo", source="OMIM:301410"} xref: UMLS:C1845027 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:301410"} xref: UMLS:C2931178 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0000669"} -is_a: MONDO:0019351 {source="ORDO:823/btnt"} ! isolated spina bifida +is_a: MONDO:0019351 {source="Orphanet:823/btnt"} ! isolated spina bifida property_value: confidence "1.5000000000000004" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked xsd:anyURI {source="GARD:0000669"} @@ -204529,20 +204491,20 @@ synonym: "Gla deficiency" RELATED [OMIM:301500] synonym: "hereditary dystopic lipidosis" RELATED [OMIM:301500] xref: DOID:14499 {source="MONDO:equivalentTo"} xref: GARD:0006400 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:324", source="ORDO:324/inclusion", source="ORDO:324/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:324", source="Orphanet:324/ntbt", source="Orphanet:324/inclusion"} xref: ICD10CM:E75.21 {source="DOID:14499"} -xref: MedDRA:10016016 {source="Orphanet:324", source="ORDO:324/e"} -xref: MESH:D000795 {source="Orphanet:324", source="MONDO:equivalentTo", source="DOID:14499", source="ORDO:324/e"} +xref: MedDRA:10016016 {source="Orphanet:324", source="Orphanet:324/e"} +xref: MESH:D000795 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"} xref: NCIT:C27528 {source="MONDO:otherHierarchy", source="DOID:14499"} xref: NCIT:C84701 {source="MONDO:equivalentTo", source="DOID:14499"} -xref: OMIM:301500 {source="Orphanet:324", source="MONDO:equivalentTo", source="DOID:14499", source="ORDO:324/e"} +xref: OMIM:301500 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"} xref: Orphanet:324 {source="MONDO:equivalentTo", source="OMIM:301500"} xref: SCTID:124464003 {source="DOID:14499"} xref: SCTID:16652001 {source="MONDO:equivalentTo", source="DOID:14499"} xref: SCTID:190792005 {source="DOID:14499"} xref: SCTID:190796008 {source="DOID:14499"} xref: SCTID:236536000 {source="DOID:14499"} -xref: UMLS:C0002986 {source="Orphanet:324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301500", source="DOID:14499", source="ORDO:324/e"} +xref: UMLS:C0002986 {source="Orphanet:324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:324/e", source="OMIM:301500", source="DOID:14499"} xref: UMLS:C1970820 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:301500"} is_a: MONDO:0002561 {source="DOID:14499/inferred", source="MESH:D000795/inferred", source="MONDO:Redundant", source="NCIT:C84701", source="Orphanet:324/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease is_a: MONDO:0005328 ! eye disorder @@ -204563,7 +204525,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015948"} ! rare [Term] id: MONDO:0010527 name: obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome -xref: OMIM:301590 {source="MONDO:obsoleteEquivalent", source="GARD:0005066", source="ORDO:85275/e", source="Orphanet:85275"} +xref: OMIM:301590 {source="MONDO:obsoleteEquivalent", source="Orphanet:85275/e", source="GARD:0005066", source="Orphanet:85275"} property_value: IAO:0000231 "terms merged" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3803 xsd:string is_obsolete: true @@ -204600,12 +204562,12 @@ synonym: "spinocerebellar ataxia, X-linked 3" RELATED [OMIM:301790] synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1, OMIM:301790] synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297] xref: GARD:0009981 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:85297/attributed", source="ORDO:85297/ntbt", source="Orphanet:85297"} -xref: MESH:C537315 {source="MONDO:equivalentTo", source="ORDO:85297/e", source="Orphanet:85297"} -xref: OMIM:301790 {source="MONDO:equivalentTo", source="ORDO:85297/e", source="Orphanet:85297"} +xref: ICD10CM:G11.1 {source="Orphanet:85297/attributed", source="Orphanet:85297/ntbt", source="Orphanet:85297"} +xref: MESH:C537315 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} +xref: OMIM:301790 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} xref: Orphanet:85297 {source="OMIM:301790", source="MONDO:equivalentTo"} xref: SCTID:719817002 {source="MONDO:equivalentTo"} -xref: UMLS:C1844936 {source="OMIM:301790", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:85297/e", source="Orphanet:85297"} +xref: UMLS:C1844936 {source="OMIM:301790", source="Orphanet:85297/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85297"} is_a: MONDO:0016612 {source="Orphanet:85297"} ! X-linked cerebellar ataxia is_a: MONDO:0020119 {source="Orphanet:85297"} ! X-linked syndromic intellectual disability property_value: confidence "32.125" xsd:double @@ -204628,14 +204590,14 @@ synonym: "contractures ectodermal dysplasia cleft lip palate" RELATED [GARD:0001 synonym: "Ladda Zonana Ramer syndrome" RELATED [GARD:0001515] synonym: "Ladda-Zonana-Ramer syndrome" EXACT [Orphanet:1484] xref: GARD:0001515 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1484", source="ORDO:1484/attributed", source="ORDO:1484/ntbt"} -xref: MESH:C535465 {source="Orphanet:1484", source="ORDO:1484/e"} -xref: MESH:C538135 {source="Orphanet:1484", source="ORDO:1484/e"} -xref: OMIM:301815 {source="Orphanet:1484", source="ORDO:1484/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:1484", source="Orphanet:1484/attributed", source="Orphanet:1484/ntbt"} +xref: MESH:C535465 {source="Orphanet:1484", source="Orphanet:1484/e"} +xref: MESH:C538135 {source="Orphanet:1484", source="Orphanet:1484/e"} +xref: OMIM:301815 {source="Orphanet:1484", source="MONDO:equivalentTo", source="Orphanet:1484/e"} xref: Orphanet:1484 {source="MONDO:equivalentTo", source="OMIM:301815"} xref: SCTID:720746006 {source="MONDO:equivalentTo"} -xref: UMLS:C1844935 {source="Orphanet:1484", source="ORDO:1484/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:301815"} -xref: UMLS:C2931745 {source="Orphanet:1484", source="ORDO:1484/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1844935 {source="Orphanet:1484", source="NCBI:mim2gene_medline", source="Orphanet:1484/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:301815"} +xref: UMLS:C2931745 {source="Orphanet:1484", source="Orphanet:1484/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="Orphanet:1484"} ! syndromic intellectual disability is_a: MONDO:0015335 {source="Orphanet:1484"} ! orofacial clefting syndrome is_a: MONDO:0019287 {source="Orphanet:1484", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome @@ -204660,12 +204622,12 @@ synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1, OMIM:301 synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [Orphanet:1145] synonym: "X-linked spinal muscular atrophy type 2" EXACT [Orphanet:1145] xref: GARD:0008521 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G12.1 {source="Orphanet:1145", source="ORDO:1145/attributed", source="ORDO:1145/ntbt"} -xref: MESH:C535380 {source="Orphanet:1145", source="ORDO:1145/e", source="MONDO:equivalentTo"} -xref: OMIM:301830 {source="Orphanet:1145", source="ORDO:1145/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G12.1 {source="Orphanet:1145", source="Orphanet:1145/attributed", source="Orphanet:1145/ntbt"} +xref: MESH:C535380 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"} +xref: OMIM:301830 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"} xref: Orphanet:1145 {source="MONDO:equivalentTo", source="OMIM:301830"} xref: SCTID:719836007 {source="MONDO:equivalentTo"} -xref: UMLS:C1844934 {source="Orphanet:1145", source="ORDO:1145/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301830"} +xref: UMLS:C1844934 {source="Orphanet:1145", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1145/e", source="OMIM:301830"} is_a: MONDO:0001516 {source="DC-OMIM:301830", source="linkedlifedata"} ! spinal muscular atrophy is_a: MONDO:0015168 {source="Orphanet:1145"} ! arthrogryposis multiplex congenita relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12469 {source="mim2gene_medgen"} ! UBA1 @@ -204700,13 +204662,13 @@ synonym: "syndromic X-linked mental retardation Arts type" EXACT DEPRECATED [DOI synonym: "X-linked fatal ataxia with deafness and loss of vision" RELATED [GARD:0008756] xref: DOID:0050647 {source="MONDO:equivalentTo"} xref: GARD:0008756 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.8 {source="Orphanet:1187", source="DOID:0050647", source="ORDO:1187/attributed", source="ORDO:1187/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:1187", source="Orphanet:1187/attributed", source="Orphanet:1187/ntbt", source="DOID:0050647"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535388 {source="Orphanet:1187", source="ORDO:1187/e", source="MONDO:equivalentTo", source="DOID:0050647"} -xref: OMIM:301835 {source="Orphanet:1187", source="ORDO:1187/e", source="MONDO:equivalentTo", source="DOID:0050647"} +xref: MESH:C535388 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"} +xref: OMIM:301835 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"} xref: Orphanet:1187 {source="MONDO:equivalentTo", source="DOID:0050647", source="OMIM:301835"} xref: SCTID:702441001 {source="MONDO:equivalentTo"} -xref: UMLS:C0796028 {source="Orphanet:1187", source="ORDO:1187/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050647", source="OMIM:301835"} +xref: UMLS:C0796028 {source="Orphanet:1187", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647", source="OMIM:301835"} is_a: MONDO:0016612 {source="Orphanet:1187"} ! X-linked cerebellar ataxia is_a: MONDO:0019236 {source="Orphanet:1187"} ! inborn disorder of purine metabolism is_a: MONDO:0019589 {source="Orphanet:1187"} ! syndromic genetic hearing loss @@ -204731,12 +204693,12 @@ synonym: "spinocerebellar ataxia, X-linked 4" RELATED [OMIM:301840] synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1, OMIM:301840] synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292] xref: GARD:0009980 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:85292/attributed", source="ORDO:85292/ntbt", source="Orphanet:85292"} -xref: MESH:C537316 {source="MONDO:equivalentTo", source="ORDO:85292/e", source="Orphanet:85292"} -xref: OMIM:301840 {source="MONDO:equivalentTo", source="ORDO:85292/e", source="Orphanet:85292"} +xref: ICD10CM:G11.1 {source="Orphanet:85292/attributed", source="Orphanet:85292/ntbt", source="Orphanet:85292"} +xref: MESH:C537316 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} +xref: OMIM:301840 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} xref: Orphanet:85292 {source="MONDO:equivalentTo", source="OMIM:301840"} xref: SCTID:719818007 {source="MONDO:equivalentTo"} -xref: UMLS:C1844933 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301840", source="ORDO:85292/e", source="Orphanet:85292"} +xref: UMLS:C1844933 {source="Orphanet:85292/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301840", source="Orphanet:85292"} is_a: MONDO:0016612 {source="Orphanet:85292"} ! X-linked cerebellar ataxia is_a: MONDO:0020119 {source="Orphanet:85292"} ! X-linked syndromic intellectual disability property_value: confidence "14.833333333333334" xsd:double @@ -204760,15 +204722,15 @@ synonym: "follicular atrophoderma and basal cell carcinomas" EXACT [OMIM:301845, synonym: "follicular atrophoderma-basal cell carcinoma syndrome" RELATED [GARD:0000838] synonym: "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" RELATED [GARD:0000838] xref: GARD:0000838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L98.8 {source="ORDO:113/attributed", source="ORDO:113/ntbt", source="Orphanet:113"} +xref: ICD10CM:L98.8 {source="Orphanet:113/attributed", source="Orphanet:113/ntbt", source="Orphanet:113"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537663 {source="ORDO:113/e", source="Orphanet:113"} -xref: OMIM:301845 {source="MONDO:equivalentTo", source="ORDO:113/e", source="Orphanet:113"} +xref: MESH:C537663 {source="Orphanet:113/e", source="Orphanet:113"} +xref: OMIM:301845 {source="Orphanet:113/e", source="MONDO:equivalentTo", source="Orphanet:113"} xref: Orphanet:113 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:301845"} xref: Orphanet:166113 {source="MONDO:equivalentTo"} xref: SCTID:238640007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:254820002 {source="MONDO:equivalentTo"} -xref: UMLS:C0346104 {source="ORDO:166113/e", source="NCBI:mim2gene_medline", source="Orphanet:166113", source="MONDO:notFoundInDiseaseSubset", source="OMIM:301845", source="ORDO:113/e", source="Orphanet:113"} +xref: UMLS:C0346104 {source="Orphanet:113/e", source="NCBI:mim2gene_medline", source="Orphanet:166113", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166113/e", source="OMIM:301845", source="Orphanet:113"} xref: UMLS:C0406355 {source="Orphanet:166113", source="MONDO:equivalentTo"} xref: UMLS:CN200039 {source="MONDO:MONDO:equivalentObsolete"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder @@ -204814,13 +204776,13 @@ synonym: "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann t synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT DEPRECATED [DOID:0050681] xref: DOID:0050681 {source="MONDO:equivalentTo"} xref: GARD:0000936 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:127", source="ORDO:127/attributed", source="ORDO:127/ntbt", source="DOID:0050681"} +xref: ICD10CM:Q87.8 {source="Orphanet:127/attributed", source="Orphanet:127/ntbt", source="Orphanet:127", source="DOID:0050681"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536575 {source="Orphanet:127", source="MONDO:equivalentTo", source="DOID:0050681", source="ORDO:127/e"} -xref: OMIM:301900 {source="Orphanet:127", source="MONDO:equivalentTo", source="DOID:0050681", source="ORDO:127/e"} +xref: MESH:C536575 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"} +xref: OMIM:301900 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"} xref: Orphanet:127 {source="MONDO:equivalentTo", source="OMIM:301900", source="DOID:0050681"} xref: SCTID:21634003 {source="MONDO:equivalentTo", source="DOID:0050681"} -xref: UMLS:C0265339 {source="Orphanet:127", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301900", source="DOID:0050681", source="ORDO:127/e"} +xref: UMLS:C0265339 {source="Orphanet:127", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:127/e", source="OMIM:301900", source="DOID:0050681"} is_a: MONDO:0015159 {source="Orphanet:127"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016565 {source="Orphanet:127"} ! syndromic genetic obesity is_a: MONDO:0020119 {source="DC-OMIM:301900", source="DOID:0050681", source="OMIM:301900", source="Orphanet:127"} ! X-linked syndromic intellectual disability @@ -204848,13 +204810,13 @@ synonym: "thumbs and great toes short and abducted" RELATED [GARD:0004886] synonym: "thumbs and great toes, short and abducted" RELATED [OMIM:301940] xref: DOID:0110973 {source="MONDO:equivalentTo"} xref: GARD:0004886 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="DOID:0110973", source="Orphanet:2565", source="ORDO:2565/attributed", source="ORDO:2565/ntbt"} -xref: MESH:C535914 {source="DOID:0110973", source="ORDO:2565/e", source="Orphanet:2565", source="MONDO:equivalentTo"} -xref: OMIM:301940 {source="DOID:0110973", source="GARD:0004886", source="ORDO:2565/e", source="Orphanet:2565", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.5 {source="Orphanet:2565/attributed", source="Orphanet:2565/ntbt", source="DOID:0110973", source="Orphanet:2565"} +xref: MESH:C535914 {source="DOID:0110973", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} +xref: OMIM:301940 {source="DOID:0110973", source="GARD:0004886", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} xref: Orphanet:2565 {source="DOID:0110973", source="GARD:0004886", source="MONDO:equivalentTo", source="OMIM:301940"} xref: SCTID:733095006 {source="MONDO:equivalentTo"} xref: UMLS:C1844919 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:301940"} -xref: UMLS:C2931060 {source="DOID:0110973", source="ORDO:2565/e", source="Orphanet:2565", source="MONDO:equivalentTo"} +xref: UMLS:C2931060 {source="DOID:0110973", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"} is_a: MONDO:0019054 {source="Orphanet:2565", source="Orphanet:2565/inferred"} ! congenital limb malformation property_value: confidence "13.000000000000023" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type xsd:anyURI {source="GARD:0004886"} @@ -204873,9 +204835,9 @@ synonym: "MFD Toriello type" RELATED [GARD:0001002] synonym: "X-linked branchial arch syndrome" EXACT [Orphanet:1131] synonym: "X-linked mandibulofacial dysostosis with limb anomalies" EXACT [Orphanet:1131] xref: GARD:0001002 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.4 {source="Orphanet:1131", source="ORDO:1131/attributed", source="ORDO:1131/ntbt"} +xref: ICD10CM:Q75.4 {source="Orphanet:1131", source="Orphanet:1131/attributed", source="Orphanet:1131/ntbt"} xref: MESH:C537102 {source="MONDO:equivalentTo"} -xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="ORDO:1131/e"} +xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="Orphanet:1131/e"} xref: Orphanet:1131 {source="MONDO:equivalentTo", source="OMIM:301950"} xref: SCTID:719813003 {source="MONDO:equivalentTo"} xref: UMLS:C1844918 {source="Orphanet:1131", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:301950"} @@ -204900,9 +204862,9 @@ synonym: "EBM" RELATED ABBREVIATION [GARD:0001038] synonym: "epidermolysis bullosa macular type" RELATED [GARD:0001038] synonym: "epidermolysis bullosa, macular type" RELATED [OMIM:302000] xref: GARD:0001038 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.8 {source="ORDO:1867/attributed", source="ORDO:1867/ntbt", source="Orphanet:1867"} +xref: ICD10CM:Q81.8 {source="Orphanet:1867/attributed", source="Orphanet:1867/ntbt", source="Orphanet:1867"} xref: MESH:C563065 {source="MONDO:equivalentTo"} -xref: OMIM:302000 {source="GARD:0001038", source="MONDO:equivalentTo", source="ORDO:1867/e", source="Orphanet:1867"} +xref: OMIM:302000 {source="Orphanet:1867/e", source="GARD:0001038", source="MONDO:equivalentTo", source="Orphanet:1867"} xref: Orphanet:1867 {source="OMIM:302000", source="GARD:0001038", source="MONDO:equivalentTo"} xref: UMLS:C0795974 {source="OMIM:302000", source="GARD:0001038", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1867"} is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder @@ -204917,9 +204879,9 @@ subset: ordo_disease {source="Orphanet:391327"} synonym: "calvarial hyperostosis" RELATED [OMIM:302030] synonym: "isolated hyperostosis of the calvarium" RELATED [GARD:0001058] xref: GARD:0001058 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:M85.2 {source="ORDO:391327/attributed", source="ORDO:391327/ntbt", source="Orphanet:391327"} +xref: ICD10CM:M85.2 {source="Orphanet:391327/attributed", source="Orphanet:391327/ntbt", source="Orphanet:391327"} xref: MESH:C537963 {source="MONDO:equivalentTo"} -xref: OMIM:302030 {source="MONDO:equivalentTo", source="Orphanet:391327", source="ORDO:391327/e"} +xref: OMIM:302030 {source="Orphanet:391327/e", source="MONDO:equivalentTo", source="Orphanet:391327"} xref: Orphanet:391327 {source="MONDO:equivalentTo", source="OMIM:302030"} xref: UMLS:C1863351 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:302030"} is_a: MONDO:0002185 {source="https://orcid.org/0000-0001-5208-3432"} ! hyperostosis @@ -204982,14 +204944,14 @@ synonym: "TAZ defect" RELATED [GARD:0005890] synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [Orphanet:111] xref: DOID:0050476 {source="MONDO:equivalentTo"} xref: GARD:0005890 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:111/attributed", source="ORDO:111/ntbt", source="Orphanet:111"} +xref: ICD10CM:E71.1 {source="Orphanet:111/attributed", source="Orphanet:111/ntbt", source="Orphanet:111"} xref: ICD10CM:E78.71 {source="DOID:0050476", source="MONDO:equivalentTo"} -xref: MESH:D056889 {source="DOID:0050476", source="MONDO:equivalentTo", source="ORDO:111/e", source="Orphanet:111"} +xref: MESH:D056889 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"} xref: NCIT:C84585 {source="DOID:0050476", source="MONDO:equivalentTo"} -xref: OMIM:302060 {source="DOID:0050476", source="MONDO:equivalentTo", source="ORDO:111/e", source="Orphanet:111"} +xref: OMIM:302060 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"} xref: Orphanet:111 {source="MONDO:equivalentTo", source="OMIM:302060"} xref: SCTID:297231002 {source="DOID:0050476", source="MONDO:equivalentTo"} -xref: UMLS:C0574083 {source="DOID:0050476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:111/e", source="Orphanet:111", source="NCIT:C84585", source="OMIM:302060"} +xref: UMLS:C0574083 {source="DOID:0050476", source="Orphanet:111/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:111", source="NCIT:C84585", source="OMIM:302060"} is_a: MONDO:0002254 {source="NCIT:C84585"} ! syndromic disease is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0009637 {source="Orphanet:111"} ! inborn mitochondrial myopathy @@ -205029,7 +204991,7 @@ xref: Orphanet:98994 {source="MONDO:subClassOf", source="OMIM:302200", source="M xref: UMLS:C2752078 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2930878 {source="OMIM:302200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110272", source="MESH:C535338", source="MONDO:Redundant", source="OMIM:302200", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7820 ! NHS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7820 {source="mim2gene_medgen"} ! NHS @@ -205052,13 +205014,13 @@ synonym: "nance-horan syndrome, X-linked dominant" EXACT [OMIM:302350, OMIM:gene synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302350] xref: DOID:0060599 {source="MONDO:equivalentTo"} xref: GARD:0007161 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:627/attributed", source="ORDO:627/ntbt", source="Orphanet:627", source="DOID:0060599"} +xref: ICD10CM:Q87.0 {source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/attributed", source="Orphanet:627/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538336 {source="ORDO:627/e", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599"} -xref: OMIM:302350 {source="ORDO:627/e", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599"} +xref: MESH:C538336 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} +xref: OMIM:302350 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} xref: Orphanet:627 {source="OMIM:302350", source="MONDO:equivalentTo", source="DOID:0060599"} xref: SCTID:445257004 {source="MONDO:equivalentTo"} -xref: UMLS:C0796085 {source="OMIM:302350", source="NCBI:mim2gene_medline", source="ORDO:627/e", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599"} +xref: UMLS:C0796085 {source="OMIM:302350", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} is_a: MONDO:0015160 {source="Orphanet:627", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020119 {source="Orphanet:627"} ! X-linked syndromic intellectual disability is_a: MONDO:0020225 ! syndromic cataract @@ -205089,9 +205051,9 @@ synonym: "SCAX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302500] synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical, OMIM:302500] synonym: "spinocerebellar ataxia, X-linked 1, X-linked recessive" EXACT [OMIM:302500, OMIM:genemap2] synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1, OMIM:302500] -xref: ICD10CM:G11.1 {source="Orphanet:1175", source="ORDO:1175/attributed", source="ORDO:1175/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:1175", source="Orphanet:1175/attributed", source="Orphanet:1175/ntbt"} xref: MESH:C563134 {source="MONDO:equivalentTo"} -xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="ORDO:1175/e"} +xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="Orphanet:1175/e"} xref: Orphanet:1175 {source="MONDO:equivalentTo", source="OMIM:302500"} xref: UMLS:C0796205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302500"} is_a: MONDO:0016612 {source="Orphanet:1175"} ! X-linked cerebellar ataxia @@ -205143,13 +205105,13 @@ synonym: "HMSN, X-linked" BROAD [OMIM:302800] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209] xref: DOID:0110209 {source="MONDO:equivalentTo"} xref: GARD:0001258 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="DOID:0110209", source="ORDO:101075/attributed", source="ORDO:101075/ntbt", source="Orphanet:101075"} -xref: MESH:C535919 {source="ORDO:101075/e", source="Orphanet:101075"} +xref: ICD10CM:G60.0 {source="Orphanet:101075/attributed", source="Orphanet:101075/ntbt", source="DOID:0110209", source="Orphanet:101075"} +xref: MESH:C535919 {source="Orphanet:101075/e", source="Orphanet:101075"} xref: NCIT:C129068 {source="MONDO:equivalentTo"} -xref: OMIM:302800 {source="MONDO:equivalentTo", source="DOID:0110209", source="ORDO:101075/e", source="Orphanet:101075"} +xref: OMIM:302800 {source="Orphanet:101075/e", source="MONDO:equivalentTo", source="DOID:0110209", source="Orphanet:101075"} xref: Orphanet:101075 {source="MONDO:equivalentTo", source="DOID:0110209", source="OMIM:302800"} xref: SCTID:763455008 {source="MONDO:equivalentTo"} -xref: UMLS:C0393808 {source="NCIT:C129068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302800", source="ORDO:101075/e", source="Orphanet:101075"} +xref: UMLS:C0393808 {source="NCIT:C129068", source="NCBI:mim2gene_medline", source="Orphanet:101075/e", source="MONDO:equivalentTo", source="OMIM:302800", source="Orphanet:101075"} is_a: MONDO:0015626 {source="DOID:0110209/inferred", source="MONDO:Redundant", source="NCIT:C129068", source="OMIM:302800", source="Orphanet:101075/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018994 {source="DOID:0110209", source="MONDO:Redundant", source="Orphanet:101075"} ! Charcot-Marie-Tooth disease type X intersection_of: MONDO:0018994 ! Charcot-Marie-Tooth disease type X @@ -205174,9 +205136,9 @@ synonym: "CMTX2" EXACT ABBREVIATION [DOID:0110208, MONDO:Lexical, OMIM:302801, O synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208] xref: DOID:0110208 {source="MONDO:equivalentTo"} xref: GARD:0001243 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="DOID:0110208", source="ORDO:101076/attributed", source="ORDO:101076/ntbt", source="Orphanet:101076"} +xref: ICD10CM:G60.0 {source="DOID:0110208", source="Orphanet:101076/attributed", source="Orphanet:101076/ntbt", source="Orphanet:101076"} xref: MESH:C535302 {source="MONDO:equivalentTo"} -xref: OMIM:302801 {source="DOID:0110208", source="MONDO:equivalentTo", source="Orphanet:101076", source="ORDO:101076/e"} +xref: OMIM:302801 {source="DOID:0110208", source="Orphanet:101076/e", source="MONDO:equivalentTo", source="Orphanet:101076"} xref: Orphanet:101076 {source="DOID:0110208", source="MONDO:equivalentTo", source="OMIM:302801"} xref: SCTID:763457000 {source="MONDO:equivalentTo"} xref: UMLS:C1844873 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302801", source="Orphanet:101076"} @@ -205202,9 +205164,9 @@ synonym: "CMTX3" EXACT ABBREVIATION [DOID:0110211, MONDO:Lexical, OMIM:302802, O synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211] xref: DOID:0110211 {source="MONDO:equivalentTo"} xref: GARD:0001244 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:101077", source="DOID:0110211", source="ORDO:101077/attributed", source="ORDO:101077/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:101077", source="Orphanet:101077/attributed", source="Orphanet:101077/ntbt", source="DOID:0110211"} xref: MESH:C535303 {source="MONDO:equivalentTo"} -xref: OMIM:302802 {source="Orphanet:101077", source="MONDO:equivalentTo", source="DOID:0110211", source="ORDO:101077/e"} +xref: OMIM:302802 {source="Orphanet:101077", source="MONDO:equivalentTo", source="Orphanet:101077/e", source="DOID:0110211"} xref: Orphanet:101077 {source="MONDO:equivalentTo", source="DOID:0110211", source="OMIM:302802"} xref: SCTID:763458005 {source="MONDO:equivalentTo"} xref: UMLS:C1844865 {source="Orphanet:101077", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302802"} @@ -205244,12 +205206,12 @@ synonym: "CHARGE-like syndrome" EXACT [Orphanet:921] synonym: "CHARGE-like syndrome, X-linked" RELATED [OMIM:302905] synonym: "cleft palate-coloboma-deafness syndrome" EXACT [Orphanet:921] xref: GARD:0000360 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:921", source="ORDO:921/attributed", source="ORDO:921/ntbt"} -xref: MESH:C535559 {source="ORDO:921/e", source="Orphanet:921", source="MONDO:equivalentTo"} -xref: OMIM:302905 {source="ORDO:921/e", source="Orphanet:921", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:921/attributed", source="Orphanet:921/ntbt", source="Orphanet:921"} +xref: MESH:C535559 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} +xref: OMIM:302905 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} xref: Orphanet:921 {source="OMIM:302905", source="MONDO:equivalentTo"} xref: SCTID:718574003 {source="MONDO:equivalentTo"} -xref: UMLS:C1844862 {source="ORDO:921/e", source="OMIM:302905", source="NCBI:mim2gene_medline", source="Orphanet:921", source="MONDO:equivalentTo"} +xref: UMLS:C1844862 {source="OMIM:302905", source="NCBI:mim2gene_medline", source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"} is_a: MONDO:0015161 {source="Orphanet:921", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:921"} ! orofacial clefting syndrome is_a: MONDO:0015620 {source="Orphanet:921"} ! syndromic urogenital tract malformation @@ -205282,12 +205244,12 @@ synonym: "X-linked chondrodysplasia punctata 1" EXACT CLINGEN_PREFERRED [] synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT [] synonym: "X-linked chondrodysplasia punctata caused by mutation in arse" EXACT [MONDO:design_pattern] xref: GARD:0001296 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:79345/attributed", source="ORDO:79345/ntbt", source="Orphanet:79345"} -xref: MESH:C535941 {source="ORDO:79345/e", source="Orphanet:79345"} -xref: OMIM:302950 {source="MONDO:equivalentTo", source="ORDO:79345/e", source="GARD:0001296", source="Orphanet:79345"} -xref: OMIM:602497 {source="ORDO:79345/btnt", source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:79345"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:79345/attributed", source="Orphanet:79345/ntbt", source="Orphanet:79345"} +xref: MESH:C535941 {source="Orphanet:79345/e", source="Orphanet:79345"} +xref: OMIM:302950 {source="Orphanet:79345/e", source="MONDO:equivalentTo", source="GARD:0001296", source="Orphanet:79345"} +xref: OMIM:602497 {source="MONDO:relatedTo", source="Orphanet:79345/btnt", source="MONDO:superClassOf", source="Orphanet:79345"} xref: Orphanet:79345 {source="MONDO:equivalentTo", source="OMIM:302950", source="GARD:0001296"} -xref: UMLS:C1844853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:302950", source="ORDO:79345/e", source="Orphanet:79345"} +xref: UMLS:C1844853 {source="NCBI:mim2gene_medline", source="Orphanet:79345/e", source="MONDO:equivalentTo", source="OMIM:302950", source="Orphanet:79345"} xref: UMLS:C3669395 {source="MONDO:equivalentTo"} is_a: MONDO:0010556 {source="MONDO:Redundant"} ! X-linked chondrodysplasia punctata is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism @@ -205311,11 +205273,11 @@ synonym: "chondrodystrophia calcificans congenita" EXACT [DOID:0060292, Orphanet synonym: "CPXD" EXACT ABBREVIATION [GARD:0006189, Orphanet:35173] synonym: "X-linked dominant chondrodysplasia punctata" RELATED [Orphanet:35173] xref: DOID:0060292 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:35173/attributed", source="ORDO:35173/ntbt", source="Orphanet:35173", source="DOID:0060292"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:35173", source="DOID:0060292", source="Orphanet:35173/attributed", source="Orphanet:35173/ntbt"} xref: MESH:C002806 {source="DOID:0060292"} xref: OMIM:302950 {source="MONDO:superClassOf", source="DOID:0060292"} -xref: OMIM:302960 {source="ORDO:35173/e", source="Orphanet:35173", source="MONDO:superClassOf", source="GARD:0006189", source="DOID:0060292"} -xref: UMLS:C0263627 {source="ORDO:35173/e", source="MONDO:equivalentTo", source="Orphanet:35173"} +xref: OMIM:302960 {source="Orphanet:35173", source="MONDO:superClassOf", source="GARD:0006189", source="Orphanet:35173/e", source="DOID:0060292"} +xref: UMLS:C0263627 {source="MONDO:equivalentTo", source="Orphanet:35173", source="Orphanet:35173/e"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0015775 {source="Orphanet:35173"} ! non-rhizomelic chondrodysplasia punctata is_a: MONDO:0019240 {source="Orphanet:35173"} ! sterol biosynthesis disorder @@ -205338,16 +205300,16 @@ synonym: "Tapetochoroidal dystrophy, progressive" RELATED [OMIM:303100] synonym: "TCD" RELATED ABBREVIATION [GARD:0006061] xref: DOID:9821 {source="MONDO:equivalentTo"} xref: GARD:0006061 {source="MONDO:equivalentTo"} -xref: ICD10CM:H31.2 {source="Orphanet:180", source="ORDO:180/inclusion", source="ORDO:180/ntbt"} +xref: ICD10CM:H31.2 {source="Orphanet:180/ntbt", source="Orphanet:180/inclusion", source="Orphanet:180"} xref: ICD10CM:H31.21 {source="DOID:9821", source="MONDO:equivalentTo"} xref: ICD9:363.55 {source="DOID:9821", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10008791 {source="ORDO:180/e", source="Orphanet:180"} -xref: MESH:D015794 {source="DOID:9821", source="ORDO:180/e", source="Orphanet:180", source="MONDO:equivalentTo"} +xref: MedDRA:10008791 {source="Orphanet:180", source="Orphanet:180/e"} +xref: MESH:D015794 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"} xref: NCIT:C34469 {source="DOID:9821", source="MONDO:equivalentTo"} -xref: OMIM:303100 {source="DOID:9821", source="ORDO:180/e", source="Orphanet:180", source="MONDO:equivalentTo"} +xref: OMIM:303100 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"} xref: Orphanet:180 {source="OMIM:303100", source="MONDO:equivalentTo"} xref: SCTID:75241009 {source="DOID:9821", source="MONDO:equivalentTo"} -xref: UMLS:C0008525 {source="DOID:9821", source="OMIM:303100", source="ORDO:180/e", source="Orphanet:180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C34469"} +xref: UMLS:C0008525 {source="DOID:9821", source="OMIM:303100", source="Orphanet:180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:180/e", source="NCIT:C34469"} xref: UMLS:C0344297 {source="OMIM:303100", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000425 {source="MESH:D015794", source="MONDO:Redundant", source="linkedlifedata"} ! X-linked disease is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic choroid disorder @@ -205370,9 +205332,9 @@ synonym: "choroideremia, obesity, and congenital deafness" RELATED [GARD:0000369 synonym: "chromosome Xq21 deletion syndrome" RELATED [OMIM:303110] synonym: "Xq21 deletion syndrome, X-linked recessive" EXACT [OMIM:303110, OMIM:genemap2] xref: GARD:0000369 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1435/attributed", source="ORDO:1435/ntbt", source="Orphanet:1435"} +xref: ICD10CM:Q87.8 {source="Orphanet:1435", source="Orphanet:1435/attributed", source="Orphanet:1435/ntbt"} xref: MESH:C537793 {source="MONDO:equivalentTo"} -xref: OMIM:303110 {source="MONDO:equivalentTo", source="Orphanet:1435", source="ORDO:1435/e"} +xref: OMIM:303110 {source="MONDO:equivalentTo", source="Orphanet:1435", source="Orphanet:1435/e"} xref: Orphanet:1435 {source="OMIM:303110", source="MONDO:equivalentTo"} xref: SCTID:717761005 {source="MONDO:equivalentTo"} xref: UMLS:C1844836 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1435"} @@ -205417,14 +205379,14 @@ synonym: "X-linked corpus callosum agenesis" EXACT [DOID:0060246] synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246] xref: DOID:0060246 {source="MONDO:equivalentTo"} xref: GARD:0006986 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0060246", source="Orphanet:2466", source="ORDO:2466/attributed", source="ORDO:2466/ntbt"} -xref: MESH:C536029 {source="ORDO:2466/e", source="DOID:0060246", source="Orphanet:2466"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:2466/attributed", source="Orphanet:2466/ntbt", source="DOID:0060246", source="Orphanet:2466"} +xref: MESH:C536029 {source="DOID:0060246", source="Orphanet:2466", source="Orphanet:2466/e"} xref: NCIT:C129930 {source="MONDO:equivalentTo"} -xref: OMIM:303350 {source="ORDO:2466/e", source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo"} +xref: OMIM:303350 {source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo", source="Orphanet:2466/e"} xref: Orphanet:2466 {source="DOID:0060246", source="MONDO:equivalentTo", source="OMIM:303350"} xref: Orphanet:275543 {source="MONDO:subClassOf", source="OMIM:303350"} xref: SCTID:716996008 {source="MONDO:equivalentTo"} -xref: UMLS:C0795953 {source="ORDO:2466/e", source="DOID:0060246", source="NCBI:mim2gene_medline", source="Orphanet:2466", source="MONDO:equivalentTo", source="NCIT:C129930", source="OMIM:303350"} +xref: UMLS:C0795953 {source="DOID:0060246", source="NCBI:mim2gene_medline", source="Orphanet:2466", source="MONDO:equivalentTo", source="NCIT:C129930", source="Orphanet:2466/e", source="OMIM:303350"} is_a: MONDO:0017140 {source="Orphanet:2466", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome is_a: MONDO:0019064 {source="DOID:0060246", source="MONDO:Redundant", source="OMIM:303350", source="Orphanet:2466/inferred"} ! hereditary spastic paraplegia is_a: MONDO:0020339 {source="Orphanet:2466"} ! X-linked complex spastic paraplegia @@ -205444,12 +205406,12 @@ synonym: "cleft palate X-linked" RELATED [GARD:0001394] synonym: "cleft palate, X-linked" RELATED [MESH:C536426] synonym: "CPX" RELATED ABBREVIATION [GARD:0001394, MESH:C536426, MONDO:Lexical, OMIM:303400] synonym: "X-linked cleft palate" RELATED [GARD:0001394, MESH:C536426] -synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, MONDO:0017938, ORDO:324601] +synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, MONDO:0017938, Orphanet:324601] xref: DOID:0060613 {source="MONDO:equivalentTo"} xref: GARD:0001394 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q35.9 {source="Orphanet:324601", source="ORDO:324601/attributed", source="ORDO:324601/ntbt"} +xref: ICD10CM:Q35.9 {source="Orphanet:324601/attributed", source="Orphanet:324601/ntbt", source="Orphanet:324601"} xref: MESH:C536426 {source="MONDO:equivalentTo"} -xref: OMIM:303400 {source="Orphanet:324601", source="MONDO:equivalentTo", source="DOID:0060613", source="ORDO:324601/ntbt", source="GARD:0001394"} +xref: OMIM:303400 {source="Orphanet:324601/ntbt", source="Orphanet:324601", source="MONDO:equivalentTo", source="DOID:0060613", source="GARD:0001394"} xref: Orphanet:324601 {source="OMIM:303400", source="MONDO:equivalentTo", source="DOID:0060613"} xref: SCTID:766761000 {source="MONDO:equivalentTo"} xref: UMLS:C1844830 {source="OMIM:303400", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -205480,15 +205442,15 @@ synonym: "mental retardation with osteocartilaginous abnormalities" RELATED DEPR xref: DOID:3783 {source="MONDO:equivalentTo"} xref: GARD:0006123 {source="MONDO:equivalentTo"} xref: GARD:0008589 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:192", source="ORDO:192/attributed", source="ORDO:192/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:192", source="Orphanet:192/attributed", source="Orphanet:192/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536435 {source="MONDO:equivalentTo"} -xref: MESH:D038921 {source="ORDO:192/e", source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192"} +xref: MESH:D038921 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"} xref: NCIT:C84643 {source="DOID:3783", source="MONDO:equivalentTo"} -xref: OMIM:303600 {source="ORDO:192/e", source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192"} +xref: OMIM:303600 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"} xref: Orphanet:192 {source="MONDO:equivalentTo", source="OMIM:303600"} xref: SCTID:15182000 {source="DOID:3783", source="MONDO:equivalentTo"} -xref: UMLS:C0265252 {source="ORDO:192/e", source="DOID:3783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:303600", source="Orphanet:192", source="NCIT:C84643"} +xref: UMLS:C0265252 {source="DOID:3783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:303600", source="Orphanet:192", source="Orphanet:192/e", source="NCIT:C84643"} xref: UMLS:C0795900 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0008589"} is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84643", source="indirect"} ! syndromic disease @@ -205515,13 +205477,13 @@ synonym: "colonic atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-216 synonym: "congenital atresia of colon" EXACT [NCIT:C101024] xref: GARD:0001446 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0010448 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q42.9 {source="Orphanet:1198", source="ORDO:1198/attributed", source="ORDO:1198/ntbt"} +xref: ICD10CM:Q42.9 {source="Orphanet:1198", source="Orphanet:1198/attributed", source="Orphanet:1198/ntbt"} xref: MESH:C562562 {source="MONDO:equivalentTo"} xref: NCIT:C101024 {source="MONDO:equivalentTo"} -xref: OMIM:303650 {source="Orphanet:1198", source="ORDO:1198/e", source="MONDO:equivalentTo"} +xref: OMIM:303650 {source="Orphanet:1198", source="MONDO:equivalentTo", source="Orphanet:1198/e"} xref: Orphanet:1198 {source="OMIM:303650", source="MONDO:equivalentTo"} xref: SCTID:37054000 {source="MONDO:equivalentTo"} -xref: UMLS:C0266190 {source="Orphanet:1198", source="ORDO:1198/e", source="OMIM:303650", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266190 {source="Orphanet:1198", source="OMIM:303650", source="NCBI:mim2gene_medline", source="Orphanet:1198/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015211 {source="Orphanet:1198"} ! non-syndromic intestinal malformation property_value: confidence "8.375" xsd:double property_value: IAO:0000589 "colonic atresia (disease)" xsd:string @@ -205551,15 +205513,15 @@ synonym: "X-linked achromatopsia incomplete" RELATED [GARD:0000917] synonym: "X-linked incomplete achromatopsia" EXACT [Orphanet:16] xref: DOID:0050679 {source="MONDO:equivalentTo"} xref: GARD:0000917 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.5 {source="ORDO:16/ntbt", source="Orphanet:16", source="ORDO:16/inclusion"} -xref: MESH:C536238 {source="MONDO:equivalentTo", source="Orphanet:16", source="ORDO:16/e"} -xref: MESH:C538165 {source="Orphanet:16", source="ORDO:16/e"} -xref: OMIM:303700 {source="GARD:0000917", source="MONDO:equivalentTo", source="Orphanet:16", source="ORDO:16/e"} +xref: ICD10CM:H53.5 {source="Orphanet:16/inclusion", source="Orphanet:16", source="Orphanet:16/ntbt"} +xref: MESH:C536238 {source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"} +xref: MESH:C538165 {source="Orphanet:16", source="Orphanet:16/e"} +xref: OMIM:303700 {source="GARD:0000917", source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"} xref: Orphanet:16 {source="GARD:0000917", source="MONDO:equivalentTo", source="OMIM:303700"} xref: SCTID:24704003 {source="MONDO:equivalentTo"} -xref: UMLS:C0339537 {source="GARD:0000917", source="NCBI:mim2gene_medline", source="Orphanet:16", source="MONDO:notFoundInDiseaseSubset", source="ORDO:16/e", source="OMIM:303700"} +xref: UMLS:C0339537 {source="GARD:0000917", source="NCBI:mim2gene_medline", source="Orphanet:16", source="MONDO:notFoundInDiseaseSubset", source="OMIM:303700", source="Orphanet:16/e"} xref: UMLS:C1415024 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:303700"} -xref: UMLS:C2931753 {source="Orphanet:16", source="MONDO:notFoundInDiseaseSubset", source="ORDO:16/e"} +xref: UMLS:C2931753 {source="Orphanet:16", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:16/e"} xref: UMLS:CN036572 {source="MONDO:equivalentTo"} is_a: MONDO:0015993 ! cone-rod dystrophy is_a: MONDO:0018852 {source="DOID:0050679"} ! achromatopsia @@ -205687,14 +205649,14 @@ synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [Orp synonym: "corpus callosum, agenesis of, with chorioretinal Abnormality" RELATED [OMIM:304050] xref: DOID:8461 {source="MONDO:equivalentTo"} xref: GARD:0005764 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.0 {source="Orphanet:50", source="ORDO:50/attributed", source="ORDO:50/ntbt"} -xref: MedDRA:10054935 {source="Orphanet:50", source="ORDO:50/e"} -xref: MESH:D058540 {source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50", source="ORDO:50/e"} +xref: ICD10CM:Q04.0 {source="Orphanet:50/attributed", source="Orphanet:50/ntbt", source="Orphanet:50"} +xref: MedDRA:10054935 {source="Orphanet:50/e", source="Orphanet:50"} +xref: MESH:D058540 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"} xref: NCIT:C35256 {source="MONDO:equivalentTo", source="DOID:8461"} -xref: OMIM:304050 {source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50", source="ORDO:50/e"} +xref: OMIM:304050 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"} xref: Orphanet:50 {source="MONDO:equivalentTo", source="OMIM:304050", source="DOID:8461"} xref: SCTID:80651009 {source="MONDO:equivalentTo", source="DOID:8461"} -xref: UMLS:C0175713 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35256", source="OMIM:304050", source="DOID:8461", source="Orphanet:50", source="ORDO:50/e"} +xref: UMLS:C0175713 {source="Orphanet:50/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35256", source="OMIM:304050", source="DOID:8461", source="Orphanet:50"} is_a: MONDO:0002254 {source="DOID:8461", source="MONDO:Redundant", source="NCIT:C35256", source="indirect"} ! syndromic disease is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0019117 {source="MONDO:0017122-obsoleted"} ! genetic nervous system disorder @@ -205719,9 +205681,9 @@ synonym: "X-linked complicated corpus callosum agenesis" RELATED [GARD:0012526] synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526] synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526] xref: GARD:0012526 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.8 {source="Orphanet:1497", source="ORDO:1497/attributed", source="ORDO:1497/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:1497", source="Orphanet:1497/attributed", source="Orphanet:1497/ntbt"} xref: MESH:C564115 {source="MONDO:equivalentTo"} -xref: OMIM:304100 {source="Orphanet:1497", source="ORDO:1497/e", source="MONDO:equivalentTo"} +xref: OMIM:304100 {source="Orphanet:1497", source="MONDO:equivalentTo", source="Orphanet:1497/e"} xref: Orphanet:1497 {source="OMIM:304100", source="MONDO:equivalentTo"} xref: Orphanet:275543 {source="MONDO:subClassOf", source="OMIM:304100"} xref: UMLS:C1839909 {source="OMIM:304100", source="Orphanet:1497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -205743,12 +205705,12 @@ synonym: "craniofrontonasal dysplasia, X-linked dominant" EXACT [OMIM:304110, OM synonym: "craniofrontonasal syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:304110, Orphanet:1520] xref: DOID:14737 {source="MONDO:equivalentTo"} xref: GARD:0001578 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:1520", source="ORDO:1520/attributed", source="ORDO:1520/ntbt"} -xref: MESH:C536456 {source="DOID:14737", source="ORDO:1520/e", source="Orphanet:1520", source="MONDO:equivalentTo"} -xref: OMIM:304110 {source="DOID:14737", source="ORDO:1520/e", source="Orphanet:1520", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.1 {source="Orphanet:1520/attributed", source="Orphanet:1520/ntbt", source="Orphanet:1520"} +xref: MESH:C536456 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} +xref: OMIM:304110 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} xref: Orphanet:1520 {source="OMIM:304110", source="MONDO:equivalentTo"} xref: SCTID:715421009 {source="MONDO:equivalentTo"} -xref: UMLS:C0220767 {source="OMIM:304110", source="DOID:14737", source="ORDO:1520/e", source="NCBI:mim2gene_medline", source="Orphanet:1520", source="MONDO:equivalentTo"} +xref: UMLS:C0220767 {source="OMIM:304110", source="DOID:14737", source="NCBI:mim2gene_medline", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"} is_a: MONDO:0016643 {source="Orphanet:1520"} ! frontonasal dysplasia is_a: MONDO:0018237 {source="Orphanet:1520"} ! acrofacial dysostosis is_a: MONDO:0020119 {source="Orphanet:1520"} ! X-linked syndromic intellectual disability @@ -205777,14 +205739,14 @@ synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical, OMIM:30412 synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [OMIM:304120, OMIM:genemap2] xref: DOID:0111784 {source="MONDO:equivalentTo"} xref: GARD:0005802 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:90652/attributed", source="ORDO:90652/ntbt", source="Orphanet:90652"} +xref: ICD10CM:Q87.0 {source="Orphanet:90652", source="Orphanet:90652/attributed", source="Orphanet:90652/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538089 {source="ORDO:90652/e", source="MONDO:equivalentTo", source="Orphanet:90652"} -xref: OMIM:304120 {source="ORDO:90652/e", source="MONDO:equivalentTo", source="Orphanet:90652"} +xref: MESH:C538089 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"} +xref: OMIM:304120 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"} xref: Orphanet:669 {source="MONDO:subClassOf", source="OMIM:304120"} xref: Orphanet:90652 {source="MONDO:equivalentTo", source="OMIM:304120"} xref: SCTID:42432003 {source="MONDO:equivalentTo"} -xref: UMLS:C1844696 {source="ORDO:90652/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90652", source="OMIM:304120"} +xref: UMLS:C1844696 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90652", source="OMIM:304120", source="Orphanet:90652/e"} is_a: MONDO:0019027 {source="Orphanet:90652"} ! otopalatodigital syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3754 {source="mim2gene_medgen"} ! FLNA relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -205814,12 +205776,12 @@ synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304150] synonym: "X-linked cutis laxa" EXACT [Orphanet:198] xref: DOID:0111272 {source="MONDO:equivalentTo"} xref: GARD:0004017 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.0 {source="ORDO:198/attributed", source="ORDO:198/ntbt", source="Orphanet:198"} -xref: MESH:C537860 {source="MONDO:equivalentTo", source="ORDO:198/e", source="Orphanet:198"} -xref: OMIM:304150 {source="MONDO:equivalentTo", source="ORDO:198/e", source="Orphanet:198"} +xref: ICD10CM:E83.0 {source="Orphanet:198/attributed", source="Orphanet:198/ntbt", source="Orphanet:198"} +xref: MESH:C537860 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"} +xref: OMIM:304150 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"} xref: Orphanet:198 {source="MONDO:equivalentTo", source="OMIM:304150"} xref: SCTID:59399004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268353 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:198/e", source="OMIM:304150", source="Orphanet:198"} +xref: UMLS:C0268353 {source="Orphanet:198/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:304150", source="Orphanet:198"} xref: UMLS:C1096660 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:198"} is_a: MONDO:0015160 {source="Orphanet:198", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0017762 {source="Orphanet:198", source="linkedlifedata"} ! disorder of copper metabolism @@ -205891,15 +205853,15 @@ synonym: "X-linked mental retardation 59" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800] xref: DOID:0060800 {source="MONDO:equivalentTo"} xref: GARD:0008520 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q23.8 {source="ORDO:1568/attributed", source="ORDO:1568/ntbt", source="Orphanet:1568"} -xref: ICD10CM:Q87.8 {source="ORDO:85329/attributed", source="ORDO:85329/ntbt", source="DOID:0060800", source="Orphanet:85329"} +xref: ICD10CM:Q23.8 {source="Orphanet:1568", source="Orphanet:1568/attributed", source="Orphanet:1568/ntbt"} +xref: ICD10CM:Q87.8 {source="DOID:0060800", source="Orphanet:85329", source="Orphanet:85329/attributed", source="Orphanet:85329/ntbt"} xref: NCIT:C124839 {source="MONDO:equivalentTo"} -xref: OMIM:304340 {source="ORDO:1568/ntbt", source="MONDO:equivalentTo", source="DOID:0060800", source="Orphanet:1568"} +xref: OMIM:304340 {source="MONDO:equivalentTo", source="DOID:0060800", source="Orphanet:1568", source="Orphanet:1568/ntbt"} xref: Orphanet:1568 {source="MONDO:equivalentTo", source="DOID:0060800", source="MONDO:preferredExternal", source="OMIM:304340"} xref: Orphanet:85329 {source="MONDO:equivalentTo"} xref: Orphanet:85335 {source="MONDO:superClassOf", source="DOID:0060800", source="MONDO:directSiblingOf", source="OMIM:304340"} xref: SCTID:719139003 {source="MONDO:equivalentTo"} -xref: UMLS:C0796254 {source="NCIT:C124839", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1568/e", source="DOID:0060800", source="Orphanet:1568", source="OMIM:304340"} +xref: UMLS:C0796254 {source="NCIT:C124839", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060800", source="Orphanet:1568", source="OMIM:304340", source="Orphanet:1568/e"} xref: UMLS:CN206181 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124839", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:85329"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -205922,7 +205884,7 @@ synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350] synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304350] xref: GARD:0001691 {source="MONDO:equivalentTo"} xref: MESH:C564435 {source="MONDO:equivalentTo"} -xref: OMIM:304350 {source="MONDO:equivalentTo", source="ORDO:90646/e", source="Orphanet:90646"} +xref: OMIM:304350 {source="Orphanet:90646/e", source="MONDO:equivalentTo", source="Orphanet:90646"} xref: Orphanet:90646 {source="MONDO:equivalentTo", source="OMIM:304350"} xref: UMLS:C1844680 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90646", source="OMIM:304350"} is_a: MONDO:0019589 {source="Orphanet:90646"} ! syndromic genetic hearing loss @@ -205976,7 +205938,7 @@ xref: EFO:1001176 {source="MONDO:equivalentTo"} xref: GARD:0001694 {source="MONDO:equivalentTo"} xref: GARD:0004504 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:H90.5 {source="DOID:10003"} -xref: ICD10CM:H90.8 {source="ORDO:383/attributed", source="ORDO:383/ntbt", source="Orphanet:383"} +xref: ICD10CM:H90.8 {source="Orphanet:383/attributed", source="Orphanet:383/ntbt", source="Orphanet:383"} xref: ICD10CM:H91.9 {source="DOID:10003"} xref: ICD9:389.1 {source="EFO:1001176", source="DOID:10003"} xref: ICD9:389.10 {source="DOID:10003"} @@ -205988,7 +205950,7 @@ xref: MESH:D006319 {source="MONDO:superClassOf", source="DOID:10003"} xref: NCIT:C26739 {source="EFO:1001176", source="DOID:10003"} xref: NCIT:C34662 {source="DOID:10003"} xref: NCIT:C34663 {source="DOID:10003"} -xref: OMIM:304400 {source="MONDO:equivalentTo", source="ORDO:383/e", source="Orphanet:383", source="DOID:10003"} +xref: OMIM:304400 {source="Orphanet:383/e", source="MONDO:equivalentTo", source="Orphanet:383", source="DOID:10003"} xref: Orphanet:383 {source="OMIM:304400", source="MONDO:equivalentTo"} xref: SCTID:155256000 {source="DOID:10003"} xref: SCTID:194421002 {source="DOID:10003"} @@ -206011,8 +205973,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 [Term] id: MONDO:0010577 name: hearing loss, X-linked 1 -synonym: "deafness, X-linked 1" NARROW [OMIM:304500, OMIM:genemap2] -synonym: "deafness, X-linked 1" NARROW [MONDO:Lexical, OMIM:304500] +synonym: "deafness, X-linked 1" NARROW [MONDO:Lexical, OMIM:304500, OMIM:genemap2] synonym: "deafness, X-linked 2, sensorineural congenital" NARROW [OMIM:304500] synonym: "deafness, X-linked type 1" NARROW [MONDORULE:1, OMIM:304500] synonym: "DFNX1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:304500] @@ -206051,13 +206012,13 @@ synonym: "Mohr-Tranebjaerg syndrome, X-linked recessive" EXACT [OMIM:304700, OMI synonym: "MTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304700] xref: DOID:0050757 {source="MONDO:equivalentTo"} xref: GARD:0008331 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G31.8 {source="Orphanet:52368", source="ORDO:52368/attributed", source="ORDO:52368/ntbt"} +xref: ICD10CM:G31.8 {source="Orphanet:52368/attributed", source="Orphanet:52368/ntbt", source="Orphanet:52368"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535808 {source="ORDO:52368/e", source="Orphanet:52368", source="MONDO:equivalentTo"} -xref: OMIM:304700 {source="ORDO:52368/e", source="Orphanet:52368", source="MONDO:equivalentTo", source="DOID:0050757"} +xref: MESH:C535808 {source="Orphanet:52368", source="MONDO:equivalentTo", source="Orphanet:52368/e"} +xref: OMIM:304700 {source="Orphanet:52368", source="MONDO:equivalentTo", source="DOID:0050757", source="Orphanet:52368/e"} xref: Orphanet:52368 {source="MONDO:equivalentTo", source="OMIM:304700"} xref: SCTID:702423009 {source="MONDO:equivalentTo"} -xref: UMLS:C0796074 {source="ORDO:52368/e", source="NCBI:mim2gene_medline", source="Orphanet:52368", source="MONDO:equivalentTo", source="OMIM:304700"} +xref: UMLS:C0796074 {source="NCBI:mim2gene_medline", source="Orphanet:52368", source="MONDO:equivalentTo", source="OMIM:304700", source="Orphanet:52368/e"} is_a: MONDO:0016802 {source="Orphanet:52368"} ! mitochondrial protein import disorder is_a: MONDO:0018609 {source="Orphanet:52368"} ! syndromic hereditary optic neuropathy is_a: MONDO:0019589 {source="Orphanet:52368"} ! syndromic genetic hearing loss @@ -206081,9 +206042,9 @@ synonym: "dermoids of cornea" RELATED [MONDO:Lexical, OMIM:304730] synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376] synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661] xref: GARD:0002580 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q13.4 {source="Orphanet:1661", source="ORDO:1661/attributed", source="ORDO:1661/ntbt"} +xref: ICD10CM:Q13.4 {source="Orphanet:1661/attributed", source="Orphanet:1661/ntbt", source="Orphanet:1661"} xref: MESH:C535376 {source="MONDO:equivalentTo"} -xref: OMIM:304730 {source="ORDO:1661/e", source="Orphanet:1661", source="MONDO:equivalentTo", source="GARD:0002580"} +xref: OMIM:304730 {source="Orphanet:1661", source="MONDO:equivalentTo", source="Orphanet:1661/e", source="GARD:0002580"} xref: Orphanet:1661 {source="OMIM:304730", source="MONDO:equivalentTo"} xref: SCTID:715426004 {source="MONDO:equivalentTo"} xref: UMLS:C1844671 {source="Orphanet:1661", source="NCBI:mim2gene_medline", source="OMIM:304730", source="MONDO:equivalentTo", source="GARD:0002580"} @@ -206128,11 +206089,11 @@ synonym: "XPID" EXACT ABBREVIATION [DOID:0090110] xref: DOID:0090110 {source="MONDO:equivalentTo"} xref: GARD:0001850 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:1850 {source="DOID:0090110"} -xref: ICD10CM:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="ORDO:37042/attributed", source="ORDO:37042/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="MONDO:directSiblingOf", source="Orphanet:37042/attributed", source="Orphanet:37042/ntbt"} xref: ICD9:250.81 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C580192 {source="MONDO:equivalentTo"} xref: NCIT:C131009 {source="MONDO:equivalentTo"} -xref: OMIM:304790 {source="ORDO:37042/e", source="DOID:0090110", source="MONDO:equivalentTo", source="Orphanet:37042"} +xref: OMIM:304790 {source="DOID:0090110", source="MONDO:equivalentTo", source="Orphanet:37042", source="Orphanet:37042/e"} xref: Orphanet:37042 {source="DOID:0090110", source="MONDO:equivalentTo", source="OMIM:304790"} xref: SCTID:237618001 {source="MONDO:equivalentTo"} xref: UMLS:C0342288 {source="NCIT:C131009", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:37042", source="OMIM:304790"} @@ -206160,7 +206121,7 @@ xref: OMIM:304800 {source="MONDO:equivalentTo"} xref: Orphanet:223 {source="MONDO:subClassOf", source="OMIM:304800"} xref: UMLS:C1563705 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:304800"} is_a: MONDO:0004782 {source="DC-OMIM:304800", source="MONDO:Redundant", source="indirect"} ! diabetes insipidus -is_a: MONDO:0016383 {source="ORDO:223/btnt"} ! nephrogenic diabetes insipidus +is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/897 {source="mim2gene_medgen"} ! AVPR2 relationship: has_modifier HP:0001417 ! X-linked inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -206190,7 +206151,7 @@ synonym: "X-linked Dyggve-Melchior-Clausen disease" EXACT [MONDO:design_pattern] xref: OMIM:304950 {source="MONDO:equivalentTo"} xref: Orphanet:239 {source="MONDO:subClassOf", source="OMIM:304950"} xref: UMLS:C1844654 {source="NCBI:mim2gene_medline", source="OMIM:304950", source="MONDO:equivalentTo"} -is_a: MONDO:0009130 {source="MONDO:Redundant", source="ORDO:239/btnt"} ! Dyggve-Melchior-Clausen disease +is_a: MONDO:0009130 {source="MONDO:Redundant", source="Orphanet:239/btnt"} ! Dyggve-Melchior-Clausen disease intersection_of: MONDO:0009130 ! Dyggve-Melchior-Clausen disease intersection_of: has_modifier HP:0001417 ! X-linked inheritance property_value: confidence "2.9681818181818183" xsd:double @@ -206246,13 +206207,13 @@ synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT CLINGEN_PREFERRED [] synonym: "XHED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:305100, Orphanet:181] synonym: "Xlhed" RELATED [OMIM:305100] xref: GARD:0010427 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.4 {source="Orphanet:181", source="ORDO:181/attributed", source="ORDO:181/ntbt"} -xref: MESH:D053358 {source="ORDO:181/e", source="Orphanet:181"} -xref: OMIM:305100 {source="ORDO:181/e", source="MONDO:equivalentTo", source="Orphanet:181"} +xref: ICD10CM:Q82.4 {source="Orphanet:181", source="Orphanet:181/attributed", source="Orphanet:181/ntbt"} +xref: MESH:D053358 {source="Orphanet:181", source="Orphanet:181/e"} +xref: OMIM:305100 {source="MONDO:equivalentTo", source="Orphanet:181", source="Orphanet:181/e"} xref: Orphanet:181 {source="OMIM:305100", source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:305100"} xref: SCTID:239007005 {source="MONDO:equivalentTo"} -xref: UMLS:C0162359 {source="OMIM:305100", source="ORDO:181/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:181"} +xref: UMLS:C0162359 {source="OMIM:305100", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:181", source="Orphanet:181/e"} is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:181"} ! hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:0010585/inferred", source="MONDO:Redundant", source="OMIM:305100", source="Orphanet:181/inferred"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia @@ -206274,13 +206235,13 @@ synonym: "Ehlers-Danlos syndrome type 5" EXACT [Orphanet:75497] synonym: "Ehlers-Danlos syndrome, type 5" RELATED [OMIM:305200] synonym: "Ehlers-Danlos syndrome, type V" RELATED [OMIM:305200] synonym: "Ehlers-Danlos syndrome, X-linked" EXACT [MONDO:patterns/x_linked] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75497", source="ORDO:75497/attributed", source="ORDO:75497/ntbt"} -xref: MESH:C536197 {source="Orphanet:75497", source="MONDO:equivalentTo", source="ORDO:75497/e"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:75497", source="Orphanet:75497/attributed", source="Orphanet:75497/ntbt"} +xref: MESH:C536197 {source="Orphanet:75497", source="MONDO:equivalentTo", source="Orphanet:75497/e"} xref: NCIT:C141423 {source="MONDO:equivalentTo"} -xref: OMIM:305200 {source="Orphanet:75497", source="MONDO:equivalentObsolete", source="ORDO:75497/e"} +xref: OMIM:305200 {source="Orphanet:75497", source="MONDO:equivalentObsolete", source="Orphanet:75497/e"} xref: Orphanet:75497 {source="OMIM:305200", source="MONDO:equivalentTo"} xref: SCTID:67202007 {source="MONDO:equivalentTo"} -xref: UMLS:C0268341 {source="OMIM:305200", source="Orphanet:75497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:75497/e"} +xref: UMLS:C0268341 {source="OMIM:305200", source="Orphanet:75497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:75497/e"} is_a: MONDO:0020066 {source="DC-OMIM:305200", source="MESH:C536197", source="MONDO:Redundant", source="NCIT:C141423", source="Orphanet:75497", source="linkedlifedata"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome intersection_of: has_modifier HP:0001417 ! X-linked inheritance @@ -206298,7 +206259,7 @@ xref: MESH:C564430 {source="MONDO:equivalentTo"} xref: OMIM:305350 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="MONDO:subClassOf", source="OMIM:305350"} xref: UMLS:C1844589 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305350"} -is_a: MONDO:0009176 {source="MESH:C564430", source="MONDO:Redundant", source="ORDO:302/btnt"} ! epidermodysplasia verruciformis +is_a: MONDO:0009176 {source="MESH:C564430", source="MONDO:Redundant", source="Orphanet:302/btnt"} ! epidermodysplasia verruciformis intersection_of: MONDO:0009176 ! epidermodysplasia verruciformis intersection_of: has_modifier HP:0001417 ! X-linked inheritance property_value: confidence "2.9681818181818183" xsd:double @@ -206416,9 +206377,9 @@ subset: gard_rare {source="GARD:0012720"} subset: ordo_disease {source="Orphanet:97232"} synonym: "fingerprint body myopathy" EXACT [OMIM:305550] xref: GARD:0012720 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:97232/attributed", source="ORDO:97232/ntbt", source="Orphanet:97232"} +xref: ICD10CM:G71.2 {source="Orphanet:97232/attributed", source="Orphanet:97232/ntbt", source="Orphanet:97232"} xref: MESH:C564425 {source="MONDO:equivalentTo"} -xref: OMIM:305550 {source="MONDO:equivalentTo", source="ORDO:97232/e", source="Orphanet:97232"} +xref: OMIM:305550 {source="Orphanet:97232/e", source="MONDO:equivalentTo", source="Orphanet:97232"} xref: Orphanet:97232 {source="MONDO:equivalentTo", source="OMIM:305550"} xref: UMLS:C1844560 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305550", source="Orphanet:97232"} is_a: MONDO:0019952 {source="Orphanet:97232"} ! congenital myopathy @@ -206440,15 +206401,15 @@ synonym: "Goltz syndrome" EXACT [DOID:2120, OMIM:305600, Orphanet:2092] synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092] xref: DOID:2120 {source="MONDO:equivalentTo"} xref: GARD:0006457 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:2092/ntbt", source="ORDO:2092/index", source="Orphanet:2092"} +xref: ICD10CM:Q82.8 {source="Orphanet:2092", source="Orphanet:2092/index", source="Orphanet:2092/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="ORDO:2092/e"} +xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} xref: NCIT:C84715 {source="DOID:2120", source="MONDO:equivalentTo"} -xref: OMIM:305600 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="ORDO:2092/e"} +xref: OMIM:305600 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} xref: Orphanet:2092 {source="OMIM:305600", source="MONDO:equivalentTo"} xref: SCTID:205573006 {source="DOID:2120", source="MONDO:equivalentTo"} xref: SCTID:2298005 {source="DOID:2120"} -xref: UMLS:C0016395 {source="DOID:2120", source="NCIT:C84715", source="OMIM:305600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2092", source="ORDO:2092/e"} +xref: UMLS:C0016395 {source="DOID:2120", source="NCIT:C84715", source="OMIM:305600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} is_a: MONDO:0003900 ! connective tissue disorder is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0015160 {source="Orphanet:2092", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -206515,7 +206476,7 @@ xref: MESH:C564423 {source="MONDO:equivalentTo"} xref: OMIM:305800 {source="MONDO:equivalentTo"} xref: Orphanet:54370 {source="MONDO:subClassOf", source="OMIM:305800"} xref: UMLS:C1844501 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:305800"} -is_a: MONDO:0018904 {source="ORDO:54370/btnt"} ! primary membranoproliferative glomerulonephritis +is_a: MONDO:0018904 {source="Orphanet:54370/btnt"} ! primary membranoproliferative glomerulonephritis property_value: confidence "1.2474747474747478" xsd:double [Term] @@ -206671,17 +206632,17 @@ synonym: "Subhemophilia" EXACT [DOID:12134] xref: DOID:12134 {source="MONDO:equivalentTo", source="EFO:0007267"} xref: EFO:0007267 {source="MONDO:equivalentTo"} xref: GARD:0006591 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D66 {source="ORDO:98878/e", source="ORDO:98878/specific", source="Orphanet:98878", source="DOID:12134"} +xref: ICD10CM:D66 {source="Orphanet:98878", source="Orphanet:98878/specific", source="DOID:12134", source="Orphanet:98878/e"} xref: ICD9:286.0 {source="DOID:12134"} -xref: MedDRA:10016080 {source="ORDO:98878/e", source="Orphanet:98878"} -xref: MESH:D006467 {source="ORDO:98878/e", source="MONDO:equivalentTo", source="Orphanet:98878", source="DOID:12134", source="EFO:0007267"} +xref: MedDRA:10016080 {source="Orphanet:98878", source="Orphanet:98878/e"} +xref: MESH:D006467 {source="MONDO:equivalentTo", source="Orphanet:98878", source="DOID:12134", source="Orphanet:98878/e", source="EFO:0007267"} xref: NCIT:C27146 {source="MONDO:equivalentTo", source="DOID:12134"} xref: OMIM:134500 {source="MONDO:equivalentTo", source="DOID:12134"} -xref: OMIM:306700 {source="ORDO:98878/e", source="MONDO:equivalentTo", source="Orphanet:98878", source="MONDO:preferredExternal"} +xref: OMIM:306700 {source="MONDO:equivalentTo", source="Orphanet:98878", source="MONDO:preferredExternal", source="Orphanet:98878/e"} xref: Orphanet:98878 {source="OMIM:306700", source="MONDO:equivalentTo"} xref: SCTID:234440005 {source="MONDO:equivalentTo"} xref: SCTID:28293008 {source="DOID:12134"} -xref: UMLS:C0019069 {source="ORDO:98878/e", source="NCBI:mim2gene_medline", source="NCIT:C27146", source="MONDO:equivalentTo", source="Orphanet:98878", source="OMIM:134500", source="DOID:12134"} +xref: UMLS:C0019069 {source="NCBI:mim2gene_medline", source="NCIT:C27146", source="MONDO:equivalentTo", source="Orphanet:98878", source="OMIM:134500", source="DOID:12134", source="Orphanet:98878/e"} xref: UMLS:C1366370 {source="OMIM:306700", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3494187 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98878"} xref: UMLS:CN239112 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -206731,17 +206692,17 @@ synonym: "plasma thromboplastin component deficiency" RELATED [OMIM:306900] xref: DOID:12259 {source="MONDO:equivalentTo"} xref: EFO:0009154 {source="MONDO:equivalentTo"} xref: GARD:0008732 {source="MONDO:equivalentTo"} -xref: ICD10CM:D67 {source="ORDO:98879/specific", source="DOID:12259", source="ORDO:98879/e", source="Orphanet:98879"} +xref: ICD10CM:D67 {source="DOID:12259", source="Orphanet:98879", source="Orphanet:98879/specific", source="Orphanet:98879/e"} xref: ICD9:286.1 {source="DOID:12259", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10016077 {source="ORDO:98879/e", source="Orphanet:98879"} -xref: MESH:D002836 {source="DOID:12259", source="ORDO:98879/e", source="MONDO:equivalentTo", source="Orphanet:98879"} +xref: MedDRA:10016077 {source="Orphanet:98879", source="Orphanet:98879/e"} +xref: MESH:D002836 {source="DOID:12259", source="MONDO:equivalentTo", source="Orphanet:98879", source="Orphanet:98879/e"} xref: NCIT:C26721 {source="DOID:12259", source="MONDO:equivalentTo"} -xref: OMIM:306900 {source="DOID:12259", source="ORDO:98879/e", source="MONDO:equivalentTo", source="Orphanet:98879"} +xref: OMIM:306900 {source="DOID:12259", source="MONDO:equivalentTo", source="Orphanet:98879", source="Orphanet:98879/e"} xref: Orphanet:98879 {source="MONDO:equivalentTo", source="OMIM:306900"} xref: SCTID:154817006 {source="DOID:12259"} xref: SCTID:234443007 {source="DOID:12259"} xref: SCTID:41788008 {source="DOID:12259", source="MONDO:equivalentTo"} -xref: UMLS:C0008533 {source="DOID:12259", source="NCBI:mim2gene_medline", source="ORDO:98879/e", source="MONDO:equivalentTo", source="OMIM:306900", source="Orphanet:98879", source="NCIT:C26721"} +xref: UMLS:C0008533 {source="DOID:12259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:306900", source="Orphanet:98879", source="NCIT:C26721", source="Orphanet:98879/e"} is_a: MONDO:0002243 {source="MESH:D002836"} ! hemorrhagic disease is_a: MONDO:0018660 {source="NCIT:C26721", source="Orphanet:98879", source="linkedlifedata"} ! hemophilia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3551 {source="mim2gene_medgen"} ! F9 @@ -206765,7 +206726,7 @@ xref: MESH:C564413 {source="MONDO:equivalentTo"} xref: OMIM:306950 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="MONDO:subClassOf", source="OMIM:306950"} xref: UMLS:C1844025 {source="OMIM:306950", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0005711 {source="ORDO:2140/btnt"} ! congenital diaphragmatic hernia +is_a: MONDO:0005711 {source="Orphanet:2140/btnt"} ! congenital diaphragmatic hernia property_value: confidence "0.4741109268472452" xsd:double [Term] @@ -206826,9 +206787,9 @@ synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [O synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [Orphanet:2570] synonym: "Morse-Rawnsley-Sargent syndrome" EXACT [Orphanet:2570] xref: GARD:0003788 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="ORDO:2570/ntbt", source="Orphanet:2570"} +xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2570/ntbt", source="Orphanet:2570"} xref: MESH:C564409 {source="MONDO:equivalentTo"} -xref: OMIM:306990 {source="MONDO:equivalentTo", source="ORDO:2570/e", source="Orphanet:2570"} +xref: OMIM:306990 {source="Orphanet:2570/e", source="MONDO:equivalentTo", source="Orphanet:2570"} xref: Orphanet:2570 {source="MONDO:equivalentTo", source="OMIM:306990"} xref: SCTID:716169009 {source="MONDO:equivalentTo"} xref: UMLS:C1844016 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:306990", source="Orphanet:2570"} @@ -206861,13 +206822,13 @@ synonym: "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" EXACT [Or synonym: "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT CLINGEN_PREFERRED [] synonym: "XLAS" RELATED ABBREVIATION [GARD:0000434] xref: GARD:0000434 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q03.0 {source="ORDO:2182/inclusion", source="ORDO:2182/ntbt", source="Orphanet:2182"} +xref: ICD10CM:Q03.0 {source="Orphanet:2182/inclusion", source="Orphanet:2182", source="Orphanet:2182/ntbt"} xref: MESH:C536078 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:307000 {source="MONDO:equivalentTo", source="Orphanet:2182", source="ORDO:2182/e"} +xref: OMIM:307000 {source="Orphanet:2182/e", source="MONDO:equivalentTo", source="Orphanet:2182"} xref: Orphanet:2182 {source="MONDO:equivalentTo", source="OMIM:307000"} xref: Orphanet:275543 {source="MONDO:subClassOf", source="OMIM:307000"} xref: SCTID:71779008 {source="MONDO:equivalentTo"} -xref: UMLS:C0265216 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2182", source="ORDO:2182/e", source="OMIM:307000"} +xref: UMLS:C0265216 {source="Orphanet:2182/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2182", source="OMIM:307000"} xref: UMLS:C1844006 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:307000"} is_a: MONDO:0001150 {source="DC-OMIM:307000"} ! hydrocephalus is_a: MONDO:0016349 ! congenital hydrocephalus @@ -206888,9 +206849,9 @@ synonym: "cerebellum agenesis hydrocephaly" RELATED [GARD:0001200] synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200, OMIM:307010] synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [Orphanet:1397] xref: GARD:0001200 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:1397", source="ORDO:1397/attributed", source="ORDO:1397/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:1397/attributed", source="Orphanet:1397/ntbt", source="Orphanet:1397"} xref: MESH:C564407 {source="MONDO:equivalentTo"} -xref: OMIM:307010 {source="ORDO:1397/e", source="GARD:0001200", source="Orphanet:1397", source="MONDO:equivalentTo"} +xref: OMIM:307010 {source="GARD:0001200", source="Orphanet:1397", source="MONDO:equivalentTo", source="Orphanet:1397/e"} xref: Orphanet:1397 {source="GARD:0001200", source="MONDO:equivalentTo", source="OMIM:307010"} xref: UMLS:C1844005 {source="Orphanet:1397", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:307010"} is_a: MONDO:0020119 {source="Orphanet:1397"} ! X-linked syndromic intellectual disability @@ -206918,7 +206879,7 @@ xref: Orphanet:308993 {source="MONDO:equivalentTo"} xref: Orphanet:408 {source="DOID:0060363", source="MONDO:superClassOf", source="OMIM:307030"} xref: SCTID:124322002 {source="MONDO:equivalentTo"} xref: SCTID:297256008 {source="DOID:0060363"} -xref: UMLS:C0268418 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:308993/e", source="OMIM:307030", source="Orphanet:308993"} +xref: UMLS:C0268418 {source="Orphanet:308993/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:307030", source="Orphanet:308993"} xref: UMLS:C0574108 {source="DOID:0060363", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019227 {source="Orphanet:308993"} ! inborn disorder of glycerol metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -206945,13 +206906,13 @@ synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [OMIM synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495] synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" RELATED [GARD:0002863] xref: GARD:0002863 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.2 {source="ORDO:79495/attributed", source="ORDO:79495/ntbt", source="Orphanet:79495"} -xref: MESH:C538388 {source="MONDO:equivalentTo", source="ORDO:79495/e", source="Orphanet:79495"} -xref: OMIM:307150 {source="MONDO:equivalentTo", source="ORDO:79495/e", source="Orphanet:79495"} +xref: ICD10CM:Q84.2 {source="Orphanet:79495/attributed", source="Orphanet:79495/ntbt", source="Orphanet:79495"} +xref: MESH:C538388 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"} +xref: OMIM:307150 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"} xref: Orphanet:2222 {source="MONDO:subClassOf", source="OMIM:307150"} xref: Orphanet:79495 {source="MONDO:equivalentTo", source="OMIM:307150"} xref: UMLS:C1855900 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:307150"} -xref: UMLS:C2931836 {source="ORDO:79495/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79495"} +xref: UMLS:C2931836 {source="Orphanet:79495/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79495"} is_a: MONDO:0016381 {source="Orphanet:79495"} ! hypertrichosis lanuginosa congenita relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -206986,10 +206947,10 @@ synonym: "X-linked IGHD" EXACT [DOID:0060875, Orphanet:231692] synonym: "X-linked isolated growth hormone deficiency" EXACT [DOID:0060875, Orphanet:231692] xref: DOID:0060875 {source="MONDO:equivalentTo"} xref: GARD:0003921 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:231692", source="DOID:0060875", source="ORDO:231692/attributed", source="ORDO:231692/ntbt"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:231692", source="Orphanet:231692/attributed", source="Orphanet:231692/ntbt", source="DOID:0060875"} xref: MESH:C537149 {source="MONDO:equivalentTo"} -xref: OMIM:300123 {source="Orphanet:231692", source="MONDO:superClassOf", source="ORDO:231692/btnt"} -xref: OMIM:307200 {source="Orphanet:231692", source="DOID:0060875", source="MONDO:equivalentTo", source="ORDO:231692/btnt"} +xref: OMIM:300123 {source="Orphanet:231692", source="Orphanet:231692/btnt", source="MONDO:superClassOf"} +xref: OMIM:307200 {source="Orphanet:231692", source="Orphanet:231692/btnt", source="DOID:0060875", source="MONDO:equivalentTo"} xref: Orphanet:231692 {source="DOID:0060875", source="MONDO:equivalentTo", source="OMIM:307200"} xref: Orphanet:631 {source="MONDO:subClassOf", source="OMIM:307200"} xref: Orphanet:632 {source="MONDO:superClassOf", source="OMIM:307200"} @@ -207015,13 +206976,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2234"} synonym: "hypogonadism, MALE, with intellectual disability and skeletal anomalies" RELATED [OMIM:307500] synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED DEPRECATED [OMIM:307500] synonym: "Sohval-Soffer syndrome" EXACT [Orphanet:2234] -xref: ICD10CM:Q87.8 {source="Orphanet:2234", source="ORDO:2234/attributed", source="ORDO:2234/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2234", source="Orphanet:2234/attributed", source="Orphanet:2234/ntbt"} xref: MESH:C564406 {source="MONDO:equivalentTo"} -xref: OMIM:307500 {source="Orphanet:2234", source="ORDO:2234/e", source="MONDO:equivalentTo"} +xref: OMIM:307500 {source="Orphanet:2234", source="MONDO:equivalentTo", source="Orphanet:2234/e"} xref: Orphanet:2234 {source="OMIM:307500", source="MONDO:equivalentTo"} xref: SCTID:722459008 {source="MONDO:equivalentTo"} xref: UMLS:C1843994 {source="OMIM:307500", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931285 {source="Orphanet:2234", source="ORDO:2234/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931285 {source="Orphanet:2234", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2234/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2234", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2234"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015906", source="MONDO:0015983"} ! rare @@ -207036,11 +206997,11 @@ synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical, OMIM:307700] synonym: "HYPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307700] synonym: "parathyroid glands, agenesis of" RELATED [OMIM:307700] synonym: "X-linked hypoparathyroidism" EXACT [NCIT:C131079] -xref: ICD10CM:E20.8 {source="ORDO:2239/attributed", source="ORDO:2239/ntbt", source="Orphanet:2239"} +xref: ICD10CM:E20.8 {source="Orphanet:2239", source="Orphanet:2239/attributed", source="Orphanet:2239/ntbt"} xref: MESH:C563238 {source="MONDO:equivalentTo"} xref: NCIT:C131079 {source="MONDO:equivalentTo"} xref: OMIM:146200 {source="MONDO:subClassOf", source="Orphanet:2239"} -xref: OMIM:307700 {source="MONDO:equivalentTo", source="ORDO:2239/e", source="Orphanet:2239"} +xref: OMIM:307700 {source="MONDO:equivalentTo", source="Orphanet:2239", source="Orphanet:2239/e"} xref: Orphanet:2238 {source="MONDO:subClassOf", source="OMIM:307700"} xref: Orphanet:2239 {source="OMIM:307700", source="MONDO:equivalentTo"} xref: UMLS:C0342344 {source="NCBI:mim2gene_medline", source="OMIM:307700", source="MONDO:notFoundInDiseaseSubset"} @@ -207077,13 +207038,13 @@ synonym: "XLH" EXACT ABBREVIATION [Orphanet:89936] synonym: "XLHR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307800] xref: DOID:0050445 {source="MONDO:equivalentTo"} xref: GARD:0012943 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="ORDO:89936/attributed", source="ORDO:89936/ntbt", source="Orphanet:89936"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89936", source="Orphanet:89936/attributed", source="Orphanet:89936/ntbt"} xref: ICD10CM:E83.31 {source="DOID:0050445"} xref: MESH:D053098 {source="MONDO:relatedTo", source="DOID:0050445"} xref: NCIT:C123265 {source="MONDO:relatedTo"} xref: NCIT:C85234 {source="DOID:0050445"} xref: OMIM:300554 {source="MONDO:relatedTo", source="DOID:0050445", source="MONDO:superClassOf"} -xref: OMIM:307800 {source="DOID:0050445", source="ORDO:89936/e", source="MONDO:equivalentTo", source="Orphanet:89936"} +xref: OMIM:307800 {source="DOID:0050445", source="MONDO:equivalentTo", source="Orphanet:89936", source="Orphanet:89936/e"} xref: Orphanet:89936 {source="OMIM:307800", source="MONDO:equivalentTo"} xref: SCTID:82236004 {source="MONDO:equivalentTo"} xref: UMLS:C0733682 {source="DOID:0050445", source="OMIM:307800", source="NCBI:mim2gene_medline", source="Orphanet:89936", source="MONDO:notFoundInDiseaseSubset"} @@ -207109,7 +207070,7 @@ xref: MESH:C564405 {source="MONDO:equivalentTo"} xref: OMIM:307830 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="MONDO:subClassOf", source="OMIM:307830"} xref: UMLS:C1843972 {source="OMIM:307830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009071 {source="ORDO:94088/btnt"} ! hereditary renal hypouricemia +is_a: MONDO:0009071 {source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia property_value: confidence "2.124285714285714" xsd:double [Term] @@ -207128,13 +207089,13 @@ synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" E synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [OMIM:308050] synonym: "ichthyosis, child syndrome" RELATED [GARD:0006039] xref: GARD:0006039 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:139", source="ORDO:139/attributed", source="ORDO:139/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:139", source="Orphanet:139/attributed", source="Orphanet:139/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562515 {source="MONDO:equivalentTo"} -xref: OMIM:308050 {source="ORDO:139/e", source="Orphanet:139", source="MONDO:equivalentTo"} +xref: OMIM:308050 {source="Orphanet:139", source="MONDO:equivalentTo", source="Orphanet:139/e"} xref: Orphanet:139 {source="MONDO:equivalentTo", source="OMIM:308050"} xref: SCTID:17608003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265267 {source="ORDO:139/e", source="Orphanet:139", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308050"} +xref: UMLS:C0265267 {source="Orphanet:139", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308050", source="Orphanet:139/e"} is_a: MONDO:0005073 {source="Orphanet:139"} ! melanocytic nevus is_a: MONDO:0015161 {source="Orphanet:139", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:139"} ! X-linked ichthyosis syndrome @@ -207172,12 +207133,12 @@ synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700] synonym: "XLI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308100, Orphanet:461] xref: DOID:1700 {source="MONDO:equivalentTo"} xref: GARD:0007904 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q80.1 {source="DOID:1700", source="ORDO:461/e", source="Orphanet:461", source="ORDO:461/specific"} -xref: MedDRA:10048063 {source="ORDO:461/e", source="Orphanet:461"} -xref: MESH:D016114 {source="DOID:1700", source="ORDO:461/e", source="Orphanet:461"} +xref: ICD10CM:Q80.1 {source="Orphanet:461/e", source="Orphanet:461/specific", source="DOID:1700", source="Orphanet:461"} +xref: MedDRA:10048063 {source="Orphanet:461/e", source="Orphanet:461"} +xref: MESH:D016114 {source="Orphanet:461/e", source="DOID:1700", source="Orphanet:461"} xref: NCIT:C84779 {source="MONDO:equivalentTo", source="DOID:1700"} -xref: OMIM:300001 {source="ORDO:461/btnt", source="MONDO:superClassOf", source="Orphanet:461"} -xref: OMIM:308100 {source="MONDO:equivalentTo", source="DOID:1700", source="ORDO:461/e", source="Orphanet:461"} +xref: OMIM:300001 {source="MONDO:superClassOf", source="Orphanet:461", source="Orphanet:461/btnt"} +xref: OMIM:308100 {source="Orphanet:461/e", source="MONDO:equivalentTo", source="DOID:1700", source="Orphanet:461"} xref: Orphanet:281090 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:308100"} xref: Orphanet:461 {source="MONDO:equivalentTo", source="OMIM:308100"} xref: SCTID:205552006 {source="DOID:1700"} @@ -207185,9 +207146,9 @@ xref: SCTID:254160003 {source="DOID:1700"} xref: SCTID:3944006 {source="MONDO:equivalentTo"} xref: SCTID:402771003 {source="DOID:1700"} xref: SCTID:72523005 {source="DOID:1700"} -xref: UMLS:C0079588 {source="NCIT:C84779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:1700", source="ORDO:461/e", source="Orphanet:461", source="OMIM:308100"} +xref: UMLS:C0079588 {source="Orphanet:461/e", source="NCIT:C84779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:1700", source="Orphanet:461", source="OMIM:308100"} xref: UMLS:C2677713 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:308100"} -xref: UMLS:C2717836 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:461/e", source="Orphanet:461", source="OMIM:308100"} +xref: UMLS:C2717836 {source="Orphanet:461/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:461", source="OMIM:308100"} xref: UMLS:C2720163 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:461", source="OMIM:308100"} is_a: MONDO:0000425 {source="DOID:1700", source="MONDO:Redundant", source="linkedlifedata"} ! X-linked disease is_a: MONDO:0015947 {source="PMID:20643494"} ! inherited ichthyosis @@ -207267,9 +207228,9 @@ synonym: "XHIM" RELATED ABBREVIATION [GARD:0000073] xref: DOID:0060022 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:6620 {source="MONDO:equivalentTo"} xref: GARD:0000073 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.5 {source="Orphanet:101088", source="ORDO:101088/attributed", source="ORDO:101088/ntbt"} +xref: ICD10CM:D80.5 {source="Orphanet:101088", source="Orphanet:101088/attributed", source="Orphanet:101088/ntbt"} xref: NCIT:C61244 {source="MONDO:equivalentTo"} -xref: OMIM:308230 {source="Orphanet:101088", source="MONDO:equivalentTo", source="GARD:0000073", source="ORDO:101088/e"} +xref: OMIM:308230 {source="Orphanet:101088", source="MONDO:equivalentTo", source="Orphanet:101088/e", source="GARD:0000073"} xref: OMIM:605258 {source="MONDO:relatedTo", source="GARD:0000073"} xref: OMIM:606843 {source="GARD:0000073", source="MONDO:directSiblingOf"} xref: OMIM:608106 {source="MONDO:relatedTo", source="GARD:0000073"} @@ -207312,16 +207273,16 @@ synonym: "XLP" EXACT ABBREVIATION [Orphanet:2442] synonym: "XLP1" EXACT ABBREVIATION [DOID:0060705] xref: DOID:0060705 {source="MONDO:equivalentTo"} xref: GARD:0007906 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.3 {source="ORDO:2442/e", source="Orphanet:2442", source="ORDO:2442/specific", source="DOID:0060705"} +xref: ICD10CM:D82.3 {source="Orphanet:2442", source="Orphanet:2442/e", source="DOID:0060705", source="Orphanet:2442/specific"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068348 {source="ORDO:2442/e", source="Orphanet:2442"} -xref: MESH:D008232 {source="MONDO:subClassOf", source="ORDO:2442/e", source="Orphanet:2442"} +xref: MedDRA:10068348 {source="Orphanet:2442", source="Orphanet:2442/e"} +xref: MESH:D008232 {source="MONDO:subClassOf", source="Orphanet:2442", source="Orphanet:2442/e"} xref: NCIT:C61246 {source="MONDO:equivalentTo"} -xref: OMIM:300635 {source="Orphanet:2442", source="MONDO:superClassOf", source="ORDO:2442/btnt"} -xref: OMIM:308240 {source="ORDO:2442/e", source="Orphanet:2442", source="MONDO:superClassOf", source="GARD:0007906", source="DOID:0060705"} +xref: OMIM:300635 {source="Orphanet:2442/btnt", source="Orphanet:2442", source="MONDO:superClassOf"} +xref: OMIM:308240 {source="Orphanet:2442", source="MONDO:superClassOf", source="GARD:0007906", source="Orphanet:2442/e", source="DOID:0060705"} xref: Orphanet:2442 {source="MONDO:equivalentTo", source="GARD:0007906", source="OMIM:308240"} xref: SCTID:77121009 {source="MONDO:equivalentTo"} -xref: UMLS:C0549463 {source="ORDO:2442/e", source="Orphanet:2442", source="MONDO:equivalentTo", source="OMIM:308240", source="NCIT:C61246"} +xref: UMLS:C0549463 {source="Orphanet:2442", source="MONDO:equivalentTo", source="Orphanet:2442/e", source="OMIM:308240", source="NCIT:C61246"} is_a: MONDO:0000425 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! X-linked disease is_a: MONDO:0015541 {source="Orphanet:2442"} ! genetic hemophagocytic lymphohistiocytosis is_a: MONDO:0016537 {source="DC-OMIM:308240", source="DOID:0060705", source="MONDO:Redundant", source="Orphanet:2442"} ! lymphoproliferative syndrome @@ -207373,10 +207334,10 @@ synonym: "IP2 (formerly)" RELATED [GARD:0006778] xref: DOID:12305 {source="EFO:1000672", source="MONDO:equivalentTo"} xref: EFO:1000672 {source="MONDO:equivalentTo"} xref: GARD:0006778 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.3 {source="DOID:12305", source="ORDO:464/e", source="ORDO:464/specific", source="Orphanet:464"} -xref: MESH:D007184 {source="DOID:12305", source="MONDO:equivalentTo", source="ORDO:464/e", source="Orphanet:464"} +xref: ICD10CM:Q82.3 {source="Orphanet:464/specific", source="DOID:12305", source="Orphanet:464/e", source="Orphanet:464"} +xref: MESH:D007184 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"} xref: NCIT:C84787 {source="DOID:12305", source="MONDO:equivalentTo"} -xref: OMIM:308300 {source="DOID:12305", source="MONDO:equivalentTo", source="ORDO:464/e", source="Orphanet:464"} +xref: OMIM:308300 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"} xref: Orphanet:464 {source="MONDO:equivalentTo", source="OMIM:308300"} xref: SCTID:205567005 {source="DOID:12305"} xref: SCTID:367520004 {source="DOID:12305", source="MONDO:equivalentTo"} @@ -207420,7 +207381,7 @@ synonym: "XMESID" RELATED ABBREVIATION [OMIM:308350] xref: DOID:0080468 {source="MONDO:equivalentTo"} xref: OMIM:308350 {source="MONDO:equivalentTo"} xref: UMLS:C3463992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:308350"} -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18060 ! ARX @@ -207480,7 +207441,7 @@ xref: OMIM:308700 {source="MONDO:equivalentTo", source="GARD:0003071", source="D xref: Orphanet:478 {source="MONDO:subClassOf", source="GARD:0003071"} xref: UMLS:C1563719 {source="OMIM:308700", source="NCBI:mim2gene_medline", source="NCIT:C75480", source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="DOID:0090094", source="MONDO:0010635/inferred", source="MONDO:Redundant", source="NCIT:C75480/inferred", source="OMIM:308700", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="NCIT:C75480", source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="NCIT:C75480", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6211 ! ANOS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6211 {source="mim2gene_medgen"} ! ANOS1 @@ -207527,11 +207488,11 @@ synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" REL synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099] synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830] xref: GARD:0003099 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:2339/attributed", source="ORDO:2339/ntbt", source="Orphanet:2339"} -xref: MESH:C536158 {source="MONDO:equivalentTo", source="Orphanet:2339", source="ORDO:2339/e"} -xref: OMIM:308830 {source="MONDO:equivalentTo", source="Orphanet:2339", source="ORDO:2339/e", source="GARD:0003099"} +xref: ICD10CM:Q87.1 {source="Orphanet:2339", source="Orphanet:2339/attributed", source="Orphanet:2339/ntbt"} +xref: MESH:C536158 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e"} +xref: OMIM:308830 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e", source="GARD:0003099"} xref: Orphanet:2339 {source="OMIM:308830", source="MONDO:equivalentTo", source="GARD:0003099"} -xref: UMLS:C1839910 {source="OMIM:308830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2339", source="ORDO:2339/e", source="GARD:0003099"} +xref: UMLS:C1839910 {source="OMIM:308830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e", source="GARD:0003099"} is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0020119 {source="Orphanet:2339"} ! X-linked syndromic intellectual disability @@ -207546,8 +207507,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2375"} synonym: "laryngeal abductor paralysis" RELATED [OMIM:308850] synonym: "Plott syndrome" EXACT [OMIM:308850, Orphanet:2375] synonym: "vocal cord dysfunction, familial" RELATED [OMIM:308850] -xref: ICD10CM:J38.0 {source="Orphanet:2375", source="ORDO:2375/attributed", source="ORDO:2375/ntbt"} -xref: OMIM:308850 {source="Orphanet:2375", source="ORDO:2375/e", source="MONDO:equivalentTo"} +xref: ICD10CM:J38.0 {source="Orphanet:2375", source="Orphanet:2375/attributed", source="Orphanet:2375/ntbt"} +xref: OMIM:308850 {source="Orphanet:2375", source="MONDO:equivalentTo", source="Orphanet:2375/e"} xref: Orphanet:2375 {source="MONDO:equivalentTo", source="OMIM:308850"} xref: SCTID:724178000 {source="MONDO:equivalentTo"} xref: UMLS:C0396059 {source="Orphanet:2375", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:308850"} @@ -207569,7 +207530,7 @@ synonym: "Loas" RELATED [OMIM:308905] xref: OMIM:308905 {source="MONDO:equivalentTo"} xref: Orphanet:104 {source="MONDO:subClassOf", source="OMIM:308905"} xref: UMLS:C1839891 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:308905"} -is_a: MONDO:0010788 {source="ORDO:104/btnt"} ! Leber hereditary optic neuropathy +is_a: MONDO:0010788 {source="Orphanet:104/btnt"} ! Leber hereditary optic neuropathy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.5590909090909086" xsd:double @@ -207588,10 +207549,10 @@ synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical, synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [OMIM:308940] synonym: "Xq22.3 microdeletion syndrome" EXACT [Orphanet:1018] xref: GARD:0002432 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1018/attributed", source="ORDO:1018/ntbt", source="Orphanet:1018"} +xref: ICD10CM:Q87.8 {source="Orphanet:1018", source="Orphanet:1018/attributed", source="Orphanet:1018/ntbt"} xref: MESH:C537113 {source="MONDO:equivalentTo"} -xref: OMIM:150700 {source="ORDO:1018/btnt", source="MONDO:superClassOf", source="Orphanet:1018"} -xref: OMIM:308940 {source="MONDO:equivalentTo", source="ORDO:1018/e", source="Orphanet:1018"} +xref: OMIM:150700 {source="MONDO:superClassOf", source="Orphanet:1018", source="Orphanet:1018/btnt"} +xref: OMIM:308940 {source="MONDO:equivalentTo", source="Orphanet:1018", source="Orphanet:1018/e"} xref: Orphanet:1018 {source="OMIM:308940", source="MONDO:equivalentTo"} xref: UMLS:C1839884 {source="OMIM:308940", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017007 {source="Orphanet:1018"} ! partial deletion of the long arm of chromosome X @@ -207681,16 +207642,16 @@ synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [ synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [OMIM:309000] xref: DOID:1056 {source="MONDO:equivalentTo"} xref: GARD:0003295 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.0 {source="Orphanet:534", source="ORDO:534/inclusion", source="ORDO:534/ntbt"} +xref: ICD10CM:E72.0 {source="Orphanet:534/ntbt", source="Orphanet:534", source="Orphanet:534/inclusion"} xref: ICD10CM:E72.03 {source="DOID:1056"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051707 {source="Orphanet:534", source="ORDO:534/e"} -xref: MESH:D009800 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="ORDO:534/e"} +xref: MedDRA:10051707 {source="Orphanet:534", source="Orphanet:534/e"} +xref: MESH:D009800 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"} xref: NCIT:C84940 {source="DOID:1056", source="MONDO:equivalentTo"} -xref: OMIM:309000 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="ORDO:534/e"} +xref: OMIM:309000 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"} xref: Orphanet:534 {source="MONDO:equivalentTo", source="OMIM:309000"} xref: SCTID:79385002 {source="DOID:1056", source="MONDO:equivalentTo"} -xref: UMLS:C0028860 {source="DOID:1056", source="Orphanet:534", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309000", source="NCIT:C84940", source="ORDO:534/e"} +xref: UMLS:C0028860 {source="DOID:1056", source="Orphanet:534", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:534/e", source="OMIM:309000", source="NCIT:C84940"} xref: UMLS:C2713392 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:309000"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84940", source="indirect"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -207728,7 +207689,7 @@ xref: OMIM:309120 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:309120"} xref: UMLS:C1839841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309120"} is_a: MONDO:0004983 {source="DC-OMIM:309120", source="MONDO:Redundant", source="OMIM:309120"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 ! TEX11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 {source="mim2gene_medgen"} ! TEX11 @@ -207766,8 +207727,8 @@ synonym: "megalocornea 1, X-linked, X-linked recessive" EXACT [OMIM:309300, OMIM synonym: "MGC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309300] synonym: "Mgcn" RELATED [OMIM:309300] xref: GARD:0012648 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q15.8 {source="ORDO:91489/attributed", source="ORDO:91489/ntbt", source="Orphanet:91489"} -xref: OMIM:309300 {source="MONDO:equivalentTo", source="ORDO:91489/e", source="Orphanet:91489"} +xref: ICD10CM:Q15.8 {source="Orphanet:91489", source="Orphanet:91489/attributed", source="Orphanet:91489/ntbt"} +xref: OMIM:309300 {source="MONDO:equivalentTo", source="Orphanet:91489", source="Orphanet:91489/e"} xref: Orphanet:91489 {source="MONDO:equivalentTo", source="OMIM:309300"} xref: SCTID:734026006 {source="MONDO:equivalentTo"} xref: UMLS:C0344530 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:309300"} @@ -207792,13 +207753,13 @@ synonym: "MNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309350] synonym: "osteodysplasty of Melnick and Needles" RELATED [OMIM:309350] xref: DOID:0111788 {source="MONDO:equivalentTo"} xref: GARD:0007011 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="Orphanet:2484", source="ORDO:2484/attributed", source="ORDO:2484/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:2484", source="Orphanet:2484/attributed", source="Orphanet:2484/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10060908 {source="Orphanet:2484", source="ORDO:2484/e"} -xref: OMIM:309350 {source="Orphanet:2484", source="MONDO:equivalentTo", source="ORDO:2484/e"} +xref: MedDRA:10060908 {source="Orphanet:2484", source="Orphanet:2484/e"} +xref: OMIM:309350 {source="Orphanet:2484", source="MONDO:equivalentTo", source="Orphanet:2484/e"} xref: Orphanet:2484 {source="MONDO:equivalentTo", source="OMIM:309350"} xref: SCTID:13449007 {source="MONDO:equivalentTo"} -xref: UMLS:C0025237 {source="Orphanet:2484", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309350", source="ORDO:2484/e"} +xref: UMLS:C0025237 {source="Orphanet:2484", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2484/e", source="OMIM:309350"} is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015161 {source="Orphanet:2484", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018233 {source="Orphanet:2484"} ! otopalatodigital syndrome spectrum disorder @@ -207833,15 +207794,15 @@ synonym: "Trichopoliodystrophy" EXACT [Orphanet:565] synonym: "X-linked copper deficiency" EXACT [Orphanet:565] xref: DOID:1838 {source="MONDO:equivalentTo"} xref: GARD:0001521 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.0 {source="Orphanet:565", source="ORDO:565/inclusion", source="ORDO:565/ntbt"} +xref: ICD10CM:E83.0 {source="Orphanet:565", source="Orphanet:565/ntbt", source="Orphanet:565/inclusion"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10027294 {source="Orphanet:565", source="ORDO:565/e"} +xref: MedDRA:10027294 {source="Orphanet:565", source="Orphanet:565/e"} xref: MESH:D007706 {source="MONDO:equivalentTo", source="DOID:1838"} xref: NCIT:C75486 {source="MONDO:equivalentTo", source="DOID:1838"} -xref: OMIM:309400 {source="Orphanet:565", source="MONDO:equivalentTo", source="ORDO:565/e", source="DOID:1838"} +xref: OMIM:309400 {source="Orphanet:565", source="MONDO:equivalentTo", source="Orphanet:565/e", source="DOID:1838"} xref: Orphanet:565 {source="MONDO:equivalentTo", source="OMIM:309400"} xref: SCTID:59178007 {source="MONDO:equivalentTo", source="DOID:1838"} -xref: UMLS:C0022716 {source="Orphanet:565", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75486", source="ORDO:565/e", source="DOID:1838", source="OMIM:309400"} +xref: UMLS:C0022716 {source="Orphanet:565", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:565/e", source="NCIT:C75486", source="DOID:1838", source="OMIM:309400"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75486", source="indirect"} ! syndromic disease is_a: MONDO:0002917 {source="DOID:1838", source="MESH:D007706", source="MONDO:Redundant", source="indirect"} ! disorder of pilosebaceous unit is_a: MONDO:0004689 {source="DOID:1838", source="MESH:D007706"} ! inborn metal metabolism disorder @@ -207870,9 +207831,9 @@ synonym: "X-linked intellectual disability - seizures - psoriasis" RELATED [GARD synonym: "X-linked intellectual disability associated with psoriasis" RELATED [GARD:0005238] synonym: "X-linked mental retardation associated with psoriasis" RELATED DEPRECATED [GARD:0005238] xref: GARD:0005238 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3052/attributed", source="ORDO:3052/ntbt", source="Orphanet:3052"} +xref: ICD10CM:Q87.8 {source="Orphanet:3052/attributed", source="Orphanet:3052/ntbt", source="Orphanet:3052"} xref: MESH:C536978 {source="MONDO:equivalentTo"} -xref: OMIM:309480 {source="MONDO:equivalentTo", source="ORDO:3052/e", source="Orphanet:3052"} +xref: OMIM:309480 {source="Orphanet:3052/e", source="MONDO:equivalentTo", source="Orphanet:3052"} xref: Orphanet:3052 {source="MONDO:equivalentTo", source="OMIM:309480"} xref: SCTID:719810000 {source="MONDO:equivalentTo"} xref: UMLS:C1839801 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -207921,10 +207882,10 @@ synonym: "X-linked mental retardation syndromic 3" RELATED DEPRECATED [GARD:0009 synonym: "X-linked mental retardation with spastic diplegia" EXACT DEPRECATED [DOID:0060179] xref: DOID:0060179 {source="MONDO:equivalentTo"} xref: GARD:0009509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.5 {source="DOID:0060179", source="ORDO:3242/attributed", source="ORDO:3242/ntbt", source="Orphanet:3242"} +xref: ICD10CM:Q87.5 {source="DOID:0060179", source="Orphanet:3242/attributed", source="Orphanet:3242/ntbt", source="Orphanet:3242"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537761 {source="MONDO:equivalentTo"} -xref: OMIM:309500 {source="DOID:0060179", source="MONDO:equivalentTo", source="Orphanet:3242", source="ORDO:3242/e"} +xref: OMIM:309500 {source="Orphanet:3242/e", source="DOID:0060179", source="MONDO:equivalentTo", source="Orphanet:3242"} xref: Orphanet:3242 {source="OMIM:309500", source="DOID:0060179", source="MONDO:equivalentTo"} xref: SCTID:699669001 {source="MONDO:equivalentTo"} xref: UMLS:C0796135 {source="OMIM:309500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -207964,7 +207925,7 @@ synonym: "X-linked Russell-Silver syndrome" EXACT [DOID:14744] xref: DOID:14744 {source="MONDO:equivalentTo"} xref: GARD:0004235 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C562446 {source="DOID:14744"} -xref: OMIM:309510 {source="MONDO:equivalentTo", source="ORDO:94083/e", source="Orphanet:94083", source="DOID:14744"} +xref: OMIM:309510 {source="Orphanet:94083/e", source="MONDO:equivalentTo", source="Orphanet:94083", source="DOID:14744"} xref: Orphanet:94083 {source="MONDO:equivalentTo", source="DOID:14744", source="OMIM:309510"} xref: UMLS:C0220775 {source="MONDO:notFoundInDiseaseSubset", source="DOID:14744"} xref: UMLS:C0796250 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:309510"} @@ -207986,13 +207947,13 @@ synonym: "Lujan-Fryns syndrome, X-linked recessive" EXACT [OMIM:309520, OMIM:gen synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" RELATED [GARD:0003307] synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED DEPRECATED [OMIM:309520] xref: GARD:0003307 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:776", source="ORDO:776/attributed", source="ORDO:776/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:776/attributed", source="Orphanet:776/ntbt", source="Orphanet:776"} xref: MESH:C537724 {source="MONDO:equivalentTo"} -xref: OMIM:300676 {source="Orphanet:776", source="MONDO:superClassOf", source="ORDO:776/nd"} -xref: OMIM:309520 {source="Orphanet:776", source="MONDO:equivalentTo", source="ORDO:776/e"} +xref: OMIM:300676 {source="Orphanet:776/nd", source="Orphanet:776", source="MONDO:superClassOf"} +xref: OMIM:309520 {source="Orphanet:776", source="MONDO:equivalentTo", source="Orphanet:776/e"} xref: Orphanet:776 {source="MONDO:equivalentTo", source="OMIM:309520"} xref: SCTID:422437002 {source="MONDO:equivalentTo"} -xref: UMLS:C0796022 {source="Orphanet:776", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:776/e", source="OMIM:309520"} +xref: UMLS:C0796022 {source="Orphanet:776", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:776/e", source="OMIM:309520"} is_a: MONDO:0015159 {source="Orphanet:776"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:776", source="indirect"} ! X-linked syndromic intellectual disability is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome @@ -208043,9 +208004,9 @@ synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [OMIM:3 synonym: "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" EXACT [OMIM:309541, OMIM:genemap2] synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [Orphanet:369962] xref: GARD:0013137 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="Orphanet:369962", source="ORDO:369962/attributed", source="ORDO:369962/ntbt"} +xref: ICD10CM:E71.1 {source="Orphanet:369962", source="Orphanet:369962/attributed", source="Orphanet:369962/ntbt"} xref: MESH:C563136 {source="MONDO:equivalentTo"} -xref: OMIM:309541 {source="Orphanet:369962", source="ORDO:369962/e", source="MONDO:equivalentTo"} +xref: OMIM:309541 {source="Orphanet:369962", source="MONDO:equivalentTo", source="Orphanet:369962/e"} xref: Orphanet:369962 {source="MONDO:equivalentTo", source="OMIM:309541"} xref: UMLS:C0796208 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309541"} is_a: MONDO:0016826 {source="Orphanet:369962"} ! methylmalonic aciduria and homocystinuria @@ -208065,9 +208026,9 @@ synonym: "MRXS12" RELATED DEPRECATED [MONDO:Lexical, OMIM:309545] synonym: "syndromic X-linked intellectual disability type 12" EXACT [DOID:0060804, MONDORULE:2] synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804] xref: DOID:0060804 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:85290/attributed", source="ORDO:85290/ntbt", source="Orphanet:85290", source="DOID:0060804"} +xref: ICD10CM:Q87.8 {source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/attributed", source="Orphanet:85290/ntbt"} xref: MESH:C564106 {source="MONDO:equivalentTo"} -xref: OMIM:309545 {source="ORDO:85290/e", source="MONDO:equivalentTo", source="Orphanet:85290", source="DOID:0060804"} +xref: OMIM:309545 {source="MONDO:equivalentTo", source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/e"} xref: Orphanet:85290 {source="OMIM:309545", source="MONDO:equivalentTo", source="DOID:0060804"} xref: SCTID:719009006 {source="MONDO:equivalentTo"} xref: UMLS:C1839792 {source="OMIM:309545", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -208093,7 +208054,7 @@ synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELA synonym: "X-linked intellectual disability associated with fragile site FRAXE" RELATED [GARD:0002378] synonym: "X-linked mental retardation associated with fragile site FRAXE" RELATED DEPRECATED [GARD:0002378] xref: GARD:0002378 {source="MONDO:equivalentTo"} -xref: OMIM:309548 {source="GARD:0002378", source="ORDO:100973/e", source="MONDO:equivalentTo", source="Orphanet:100973"} +xref: OMIM:309548 {source="GARD:0002378", source="MONDO:equivalentTo", source="Orphanet:100973", source="Orphanet:100973/e"} xref: Orphanet:100973 {source="GARD:0002378", source="OMIM:309548", source="MONDO:equivalentTo"} xref: SCTID:716709002 {source="MONDO:equivalentTo"} xref: UMLS:C0751157 {source="NCBI:mim2gene_medline", source="OMIM:309548", source="MONDO:equivalentTo"} @@ -208143,7 +208104,7 @@ synonym: "X-linked intellectual disability Gustavson type" RELATED [GARD:0005611 synonym: "X-linked mental retardation Gustavson type" RELATED DEPRECATED [GARD:0005611] xref: GARD:0005611 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536759 {source="MONDO:equivalentTo"} -xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source="ORDO:3078/e"} +xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source="Orphanet:3078/e"} xref: Orphanet:3078 {source="OMIM:309555", source="MONDO:equivalentTo"} xref: SCTID:722213009 {source="MONDO:equivalentTo"} xref: UMLS:C0795965 {source="OMIM:309555", source="Orphanet:3078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -208161,9 +208122,9 @@ synonym: "intellectual disability with spastic paraplegia and palmoplantar hyper synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED DEPRECATED [OMIM:309560] xref: GARD:0002344 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C537058 {source="MONDO:equivalentTo"} -xref: OMIM:309560 {source="MONDO:equivalentTo", source="ORDO:2824/e", source="Orphanet:2824"} +xref: OMIM:309560 {source="Orphanet:2824/e", source="MONDO:equivalentTo", source="Orphanet:2824"} xref: Orphanet:2824 {source="MONDO:equivalentTo", source="OMIM:309560"} -xref: UMLS:C2745996 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2824/e", source="OMIM:309560", source="Orphanet:2824"} +xref: UMLS:C2745996 {source="Orphanet:2824/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309560", source="Orphanet:2824"} is_a: MONDO:0015159 {source="Orphanet:2824"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:2824"} ! X-linked syndromic intellectual disability property_value: confidence "8.6" xsd:double @@ -208197,7 +208158,7 @@ synonym: "X-linked hypogonadism gynecomastia intellectual disability" RELATED [G synonym: "X-linked hypogonadism gynecomastia mental retardation" RELATED DEPRECATED [GARD:0000081] synonym: "XLMR-hypotonic facies syndrome" RELATED [OMIM:309580] xref: GARD:0000081 {source="MONDO:equivalentTo"} -xref: OMIM:309580 {source="Orphanet:73220", source="MONDO:equivalentTo", source="GARD:0000081", source="ORDO:73220/e"} +xref: OMIM:309580 {source="Orphanet:73220", source="MONDO:equivalentTo", source="Orphanet:73220/e", source="GARD:0000081"} xref: Orphanet:73220 {source="MONDO:equivalentTo", source="OMIM:309580"} xref: Orphanet:93970 {source="MONDO:superClassOf", source="OMIM:309580"} xref: Orphanet:93971 {source="MONDO:superClassOf", source="OMIM:309580"} @@ -208234,10 +208195,10 @@ synonym: "X-linked intellectual disability, Snyder type" RELATED [Orphanet:3063] synonym: "X-linked mental retardation Snyder-Robinson type" RELATED DEPRECATED [GARD:0005615] xref: DOID:0060802 {source="MONDO:equivalentTo"} xref: GARD:0005615 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3063/attributed", source="ORDO:3063/ntbt", source="DOID:0060802", source="Orphanet:3063"} +xref: ICD10CM:Q87.8 {source="Orphanet:3063/attributed", source="Orphanet:3063/ntbt", source="DOID:0060802", source="Orphanet:3063"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536678 {source="MONDO:equivalentTo"} -xref: OMIM:309583 {source="MONDO:equivalentTo", source="DOID:0060802", source="ORDO:3063/e", source="Orphanet:3063"} +xref: OMIM:309583 {source="Orphanet:3063/e", source="MONDO:equivalentTo", source="DOID:0060802", source="Orphanet:3063"} xref: Orphanet:3063 {source="MONDO:equivalentTo", source="DOID:0060802", source="OMIM:309583"} xref: SCTID:702416008 {source="MONDO:equivalentTo"} xref: UMLS:C0796160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309583", source="Orphanet:3063"} @@ -208272,7 +208233,7 @@ synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT xref: DOID:0060814 {source="MONDO:equivalentTo"} xref: GARD:0005579 {source="MONDO:equivalentTo"} xref: MESH:C536708 {source="MONDO:equivalentTo"} -xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="ORDO:3459/e", source="DOID:0060814"} +xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="Orphanet:3459/e", source="DOID:0060814"} xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source="DOID:0060814"} xref: SCTID:719834005 {source="MONDO:equivalentTo"} xref: UMLS:C1839736 {source="NCBI:mim2gene_medline", source="Orphanet:3459", source="MONDO:notFoundInDiseaseSubset", source="OMIM:309585"} @@ -208287,7 +208248,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5579/wilson-t id: MONDO:0010666 name: obsolete Miles-Carpenter syndrome comment: OMIM merged these -xref: OMIM:309605 {source="MONDO:obsoleteEquivalent", source="ORDO:85283/e", source="DOID:0060815"} +xref: OMIM:309605 {source="Orphanet:85283/e", source="MONDO:obsoleteEquivalent", source="DOID:0060815"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1696 xsd:anyURI is_obsolete: true replaced_by: MONDO:0010758 @@ -208312,7 +208273,7 @@ xref: DOID:0060805 {source="MONDO:equivalentTo"} xref: GARD:0004482 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535274 {source="MONDO:equivalentTo"} xref: NCIT:C18058 {source="MONDO:equivalentTo"} -xref: OMIM:309610 {source="MONDO:equivalentTo", source="ORDO:2958/e", source="Orphanet:2958", source="DOID:0060805"} +xref: OMIM:309610 {source="Orphanet:2958/e", source="MONDO:equivalentTo", source="Orphanet:2958", source="DOID:0060805"} xref: Orphanet:2958 {source="OMIM:309610", source="MONDO:equivalentTo", source="DOID:0060805"} xref: SCTID:719140001 {source="MONDO:equivalentTo"} xref: UMLS:C1839730 {source="OMIM:309610", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2958"} @@ -208335,9 +208296,9 @@ synonym: "mental retardation-skeletal dysplasia" EXACT [OMIM:309620, OMIM:genema synonym: "MRSD" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620] synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [Orphanet:1436] xref: GARD:0003520 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:1436/attributed", source="ORDO:1436/ntbt", source="Orphanet:1436"} +xref: ICD10CM:Q87.5 {source="Orphanet:1436", source="Orphanet:1436/attributed", source="Orphanet:1436/ntbt"} xref: MESH:C564101 {source="MONDO:equivalentTo"} -xref: OMIM:309620 {source="GARD:0003520", source="MONDO:equivalentTo", source="ORDO:1436/e", source="Orphanet:1436"} +xref: OMIM:309620 {source="GARD:0003520", source="MONDO:equivalentTo", source="Orphanet:1436", source="Orphanet:1436/e"} xref: Orphanet:1436 {source="GARD:0003520", source="MONDO:equivalentTo", source="OMIM:309620"} xref: SCTID:722478008 {source="MONDO:equivalentTo"} xref: UMLS:C1839729 {source="GARD:0003520", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309620"} @@ -208362,9 +208323,9 @@ synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559] synonym: "MF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309630] synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern] xref: GARD:0003559 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q70.0 {source="Orphanet:2498", source="ORDO:2498/attributed", source="ORDO:2498/ntbt"} +xref: ICD10CM:Q70.0 {source="Orphanet:2498", source="Orphanet:2498/attributed", source="Orphanet:2498/ntbt"} xref: MESH:C564100 {source="MONDO:equivalentTo"} -xref: OMIM:309630 {source="Orphanet:2498", source="ORDO:2498/e", source="GARD:0003559", source="MONDO:equivalentTo"} +xref: OMIM:309630 {source="Orphanet:2498", source="GARD:0003559", source="MONDO:equivalentTo", source="Orphanet:2498/e"} xref: Orphanet:2498 {source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"} xref: SCTID:715442006 {source="MONDO:equivalentTo"} xref: UMLS:C1839728 {source="Orphanet:2498", source="NCBI:mim2gene_medline", source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"} @@ -208383,7 +208344,7 @@ subset: ordo_disease {source="Orphanet:163982"} synonym: "intellectual disability with spastic paraplegia" RELATED [OMIM:309640] synonym: "mental retardation with spastic paraplegia" RELATED DEPRECATED [OMIM:309640] xref: MESH:C564099 {source="MONDO:equivalentTo"} -xref: OMIM:309640 {source="MONDO:equivalentTo", source="Orphanet:163982", source="ORDO:163982/e"} +xref: OMIM:309640 {source="MONDO:equivalentTo", source="Orphanet:163982", source="Orphanet:163982/e"} xref: Orphanet:163982 {source="MONDO:equivalentObsolete", source="OMIM:309640"} xref: UMLS:C1839727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:309640"} is_a: MONDO:0020119 {source="Orphanet:163982"} ! X-linked syndromic intellectual disability @@ -208409,7 +208370,7 @@ synonym: "microphthalmia, syndromic 4, formerly" EXACT [MONDO:Lexical, OMIM:3015 synonym: "microphthalmia, syndromic type 1" EXACT [MONDORULE:1, OMIM:309800] synonym: "syndromic microphthalmia type 4" EXACT [GARD:0005066, Orphanet:85275] xref: GARD:0005066 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="ORDO:85275/attributed", source="ORDO:85275/ntbt", source="Orphanet:85275"} +xref: ICD10CM:Q11.2 {source="Orphanet:85275/attributed", source="Orphanet:85275/ntbt", source="Orphanet:85275"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537464 {source="MONDO:equivalentTo"} xref: MESH:C564457 {source="MONDO:equivalentObsolete"} @@ -208422,7 +208383,7 @@ xref: UMLS:C0796016 {source="OMIM:309800", source="NCBI:mim2gene_medline", sourc xref: UMLS:C1844948 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0005066", source="OMIM:301590", source="Orphanet:85275"} is_a: MONDO:0015159 {source="Orphanet:85275"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016073 {source="DC-OMIM:301590", source="MONDO:0010671/inferred", source="MONDO:Redundant", source="OMIM:301590", source="OMIM:309800", source="Orphanet:85275", source="indirect"} ! syndromic microphthalmia -is_a: MONDO:0018924 {source="ORDO:568/btnt"} ! microphthalmia, Lenz type +is_a: MONDO:0018924 {source="Orphanet:568/btnt"} ! microphthalmia, Lenz type is_a: MONDO:0020119 {source="Orphanet:85275"} ! X-linked syndromic intellectual disability is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18704 {source="OMIM:309800"} ! NAA10 @@ -208449,11 +208410,11 @@ synonym: "MIDAS syndrome" EXACT [Orphanet:2556] synonym: "MLS syndrome" EXACT [Orphanet:2556] synonym: "syndromic microphthalmia type 7" EXACT [Orphanet:2556] xref: GARD:0003659 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="ORDO:2556/attributed", source="ORDO:2556/ntbt", source="Orphanet:2556"} +xref: ICD10CM:Q11.2 {source="Orphanet:2556", source="Orphanet:2556/attributed", source="Orphanet:2556/ntbt"} xref: MESH:C537466 {source="MONDO:equivalentTo"} -xref: OMIM:300887 {source="MONDO:superClassOf", source="ORDO:2556/btnt", source="Orphanet:2556"} -xref: OMIM:300952 {source="MONDO:superClassOf", source="ORDO:2556/btnt", source="Orphanet:2556"} -xref: OMIM:309801 {source="ORDO:2556/e", source="MONDO:superClassOf", source="Orphanet:2556"} +xref: OMIM:300887 {source="MONDO:superClassOf", source="Orphanet:2556", source="Orphanet:2556/btnt"} +xref: OMIM:300952 {source="MONDO:superClassOf", source="Orphanet:2556", source="Orphanet:2556/btnt"} +xref: OMIM:309801 {source="MONDO:superClassOf", source="Orphanet:2556", source="Orphanet:2556/e"} xref: OMIMPS:309801 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:309801", source="MONDO:equivalentTo"} xref: SCTID:721879006 {source="MONDO:equivalentTo"} @@ -208507,18 +208468,18 @@ synonym: "SIDS deficiency" EXACT [OMIM:309900] synonym: "sulfoiduronate sulfatase deficiency" EXACT [OMIM:309900] xref: DOID:12799 {source="MONDO:equivalentTo"} xref: GARD:0006675 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="ORDO:580/e", source="Orphanet:580", source="ORDO:580/specific"} -xref: MedDRA:10056889 {source="ORDO:580/e", source="Orphanet:580"} -xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="ORDO:580/e", source="Orphanet:580"} +xref: ICD10CM:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580/specific", source="Orphanet:580", source="Orphanet:580/e"} +xref: MedDRA:10056889 {source="Orphanet:580", source="Orphanet:580/e"} +xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"} xref: NCIT:C61260 {source="DOID:12799", source="MONDO:equivalentTo"} -xref: OMIM:309900 {source="DOID:12799", source="MONDO:equivalentTo", source="ORDO:580/e", source="Orphanet:580"} +xref: OMIM:309900 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"} xref: Orphanet:580 {source="OMIM:309900", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:79388 {source="MONDO:equivalentTo"} xref: SCTID:190936000 {source="DOID:12799"} xref: SCTID:61413000 {source="DOID:12799"} xref: SCTID:70737009 {source="DOID:12799", source="MONDO:equivalentTo"} -xref: UMLS:C0026705 {source="DOID:12799", source="NCBI:mim2gene_medline", source="OMIM:309900", source="MONDO:equivalentTo", source="NCIT:C61260", source="ORDO:580/e", source="Orphanet:580"} -xref: UMLS:C2718304 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:580/e", source="Orphanet:580"} +xref: UMLS:C0026705 {source="DOID:12799", source="NCBI:mim2gene_medline", source="OMIM:309900", source="MONDO:equivalentTo", source="NCIT:C61260", source="Orphanet:580", source="Orphanet:580/e"} +xref: UMLS:C2718304 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:580", source="Orphanet:580/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61260", source="indirect"} ! syndromic disease is_a: MONDO:0019058 {source="Orphanet:580", source="indirect"} ! neurometabolic disease is_a: MONDO:0019249 {source="DOID:12799", source="MESH:D016532", source="MONDO:Redundant", source="NCIT:C61260", source="OMIM:309900", source="Orphanet:580", source="indirect", source="linkedlifedata"} ! mucopolysaccharidosis @@ -208585,18 +208546,18 @@ synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" REL synonym: "severe dystrophinopathy, Duchenne type" EXACT [Orphanet:98896] xref: DOID:11723 {source="MONDO:equivalentTo"} xref: GARD:0006291 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98896", source="ORDO:98896/inclusion", source="ORDO:98896/ntbt"} -xref: MedDRA:10013801 {source="Orphanet:98896", source="ORDO:98896/e"} -xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="ORDO:98896/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98896/ntbt", source="Orphanet:98896", source="Orphanet:98896/inclusion"} +xref: MedDRA:10013801 {source="Orphanet:98896", source="Orphanet:98896/e"} +xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"} xref: NCIT:C75482 {source="DOID:11723", source="MONDO:equivalentTo"} -xref: OMIM:310200 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="ORDO:98896/e"} +xref: OMIM:310200 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"} xref: Orphanet:98896 {source="MONDO:equivalentTo", source="OMIM:310200"} xref: SCTID:129619006 {source="DOID:11723"} xref: SCTID:155095006 {source="DOID:11723"} xref: SCTID:267712004 {source="DOID:11723"} xref: SCTID:387732009 {source="DOID:11723"} xref: SCTID:76670001 {source="DOID:11723", source="MONDO:equivalentTo"} -xref: UMLS:C0013264 {source="DOID:11723", source="Orphanet:98896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310200", source="NCIT:C75482", source="ORDO:98896/e"} +xref: UMLS:C0013264 {source="DOID:11723", source="Orphanet:98896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310200", source="NCIT:C75482", source="Orphanet:98896/e"} is_a: MONDO:0015368 ! neuro-ophthalmological disease is_a: MONDO:0016147 {source="MONDO:Redundant", source="Orphanet:98896", source="indirect"} ! qualitative or quantitative defects of dystrophin is_a: MONDO:0016899 {source="Orphanet:98896"} ! Duchenne and Becker muscular dystrophy @@ -208628,13 +208589,13 @@ synonym: "scapuloperoneal syndrome, X-linked, formerly" RELATED [OMIM:310300] synonym: "X-linked Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_PREFERRED [] xref: DOID:0070246 {source="MONDO:equivalentTo"} xref: GARD:0002102 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98863", source="ORDO:98863/attributed", source="ORDO:98863/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98863/attributed", source="Orphanet:98863/ntbt", source="Orphanet:98863"} xref: NCIT:C168730 {source="MONDO:equivalentTo"} -xref: OMIM:300696 {source="MONDO:subClassOf", source="Orphanet:98863", source="ORDO:98863/ntbt"} -xref: OMIM:310300 {source="Orphanet:98863", source="MONDO:equivalentTo", source="DOID:0070246", source="ORDO:98863/e"} +xref: OMIM:300696 {source="MONDO:subClassOf", source="Orphanet:98863/ntbt", source="Orphanet:98863"} +xref: OMIM:310300 {source="Orphanet:98863", source="MONDO:equivalentTo", source="DOID:0070246", source="Orphanet:98863/e"} xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:310300"} xref: Orphanet:98863 {source="MONDO:equivalentTo", source="OMIM:310300"} -xref: UMLS:C0751337 {source="Orphanet:98863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310300", source="ORDO:98863/e"} +xref: UMLS:C0751337 {source="Orphanet:98863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310300", source="Orphanet:98863/e"} xref: UMLS:C2931858 {source="MONDO:relatedTo", source="MONDO:notFoundInDiseaseSubset", source="OMIM:310300"} xref: UMLS:CN069573 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="DOID:0070246"} ! Mendelian disease @@ -208663,7 +208624,7 @@ synonym: "myoclonic epilepsy, progressive" EXACT [OMIM:310370] xref: OMIM:310370 {source="MONDO:equivalentTo"} xref: Orphanet:308 {source="MONDO:subClassOf", source="OMIM:310370"} xref: UMLS:C0751778 {source="MONDO:subClassOf", source="OMIM:310370", source="NCBI:mim2gene_medline"} -is_a: MONDO:0009698 {source="ORDO:308/btnt"} ! Unverricht-Lundborg syndrome +is_a: MONDO:0009698 {source="Orphanet:308/btnt"} ! Unverricht-Lundborg syndrome is_a: MONDO:0016022 {source="DC-OMIM:310370"} ! early myoclonic encephalopathy relationship: has_modifier HP:0001419 {source="OMIM:310370"} ! X-linked recessive inheritance property_value: confidence "4.5" xsd:double @@ -208686,13 +208647,13 @@ synonym: "XLCNM" EXACT ABBREVIATION [Orphanet:596] synonym: "XLMTM" EXACT ABBREVIATION [Orphanet:596] xref: DOID:0111225 {source="MONDO:equivalentTo"} xref: GARD:0011925 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:596/ntbt", source="ORDO:596/inclusion", source="Orphanet:596"} -xref: MESH:C538647 {source="ORDO:596/e", source="Orphanet:596"} +xref: ICD10CM:G71.2 {source="Orphanet:596/ntbt", source="Orphanet:596/inclusion", source="Orphanet:596"} +xref: MESH:C538647 {source="Orphanet:596/e", source="Orphanet:596"} xref: NCIT:C118781 {source="MONDO:equivalentTo"} -xref: OMIM:310400 {source="MONDO:equivalentTo", source="ORDO:596/e", source="Orphanet:596"} +xref: OMIM:310400 {source="Orphanet:596/e", source="MONDO:equivalentTo", source="Orphanet:596"} xref: Orphanet:596 {source="MONDO:equivalentTo", source="OMIM:310400"} xref: SCTID:46804001 {source="MONDO:equivalentTo"} -xref: UMLS:C0410203 {source="NCIT:C118781", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:310400", source="ORDO:596/e", source="Orphanet:596"} +xref: UMLS:C0410203 {source="NCIT:C118781", source="NCBI:mim2gene_medline", source="Orphanet:596/e", source="MONDO:equivalentTo", source="OMIM:310400", source="Orphanet:596"} is_a: MONDO:0002921 {source="NCIT:C118781", source="OMIM:310400"} ! congenital structural myopathy is_a: MONDO:0016154 {source="Orphanet:596"} ! qualitative or quantitative defects of myotubularin is_a: MONDO:0018947 {source="DC-OMIM:310400", source="MONDO:Redundant", source="OMIM:310400", source="Orphanet:596", source="linkedlifedata"} ! centronuclear myopathy @@ -208716,9 +208677,9 @@ synonym: "vacuolar myopathy" EXACT [Orphanet:25980] synonym: "XMEA" EXACT ABBREVIATION [DOID:0050760, OMIM:310440, Orphanet:25980] xref: DOID:0050760 {source="MONDO:equivalentTo"} xref: GARD:0003892 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="ORDO:25980/attributed", source="ORDO:25980/ntbt", source="Orphanet:25980"} +xref: ICD10CM:G71.8 {source="Orphanet:25980/attributed", source="Orphanet:25980/ntbt", source="Orphanet:25980"} xref: MESH:C536522 {source="MONDO:equivalentTo"} -xref: OMIM:310440 {source="MONDO:equivalentTo", source="ORDO:25980/e", source="Orphanet:25980"} +xref: OMIM:310440 {source="Orphanet:25980/e", source="MONDO:equivalentTo", source="Orphanet:25980"} xref: Orphanet:25980 {source="OMIM:310440", source="MONDO:equivalentTo"} xref: SCTID:719815005 {source="MONDO:equivalentTo"} xref: UMLS:C1839615 {source="OMIM:310440", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:25980"} @@ -208755,13 +208716,13 @@ synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465] synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465] xref: DOID:0050769 {source="MONDO:equivalentTo"} xref: GARD:0003902 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2608/attributed", source="ORDO:2608/ntbt", source="Orphanet:2608"} -xref: MESH:C536108 {source="MONDO:equivalentTo", source="ORDO:2608/e", source="Orphanet:2608"} -xref: OMIM:310465 {source="MONDO:equivalentTo", source="DOID:0050769", source="ORDO:2608/e", source="Orphanet:2608"} +xref: ICD10CM:Q87.8 {source="Orphanet:2608/attributed", source="Orphanet:2608/ntbt", source="Orphanet:2608"} +xref: MESH:C536108 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="Orphanet:2608"} +xref: OMIM:310465 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="DOID:0050769", source="Orphanet:2608"} xref: Orphanet:2608 {source="MONDO:equivalentTo", source="OMIM:310465", source="DOID:0050769"} xref: SCTID:723410002 {source="MONDO:equivalentTo"} xref: UMLS:C1417859 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:310465"} -xref: UMLS:C2936859 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2608/e", source="Orphanet:2608"} +xref: UMLS:C2936859 {source="NCBI:mim2gene_medline", source="Orphanet:2608/e", source="MONDO:equivalentTo", source="Orphanet:2608"} is_a: MONDO:0015159 {source="Orphanet:2608"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015356 {source="Orphanet:2608"} ! hereditary neoplastic syndrome is_a: MONDO:0019589 {source="Orphanet:2608"} ! syndromic genetic hearing loss @@ -208827,8 +208788,8 @@ synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212] xref: DOID:0110212 {source="MONDO:equivalentTo"} xref: GARD:0001240 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:101078", source="ORDO:101078/attributed", source="ORDO:101078/ntbt", source="DOID:0110212"} -xref: OMIM:310490 {source="Orphanet:101078", source="ORDO:101078/e", source="MONDO:equivalentTo", source="DOID:0110212"} +xref: ICD10CM:G60.0 {source="Orphanet:101078", source="Orphanet:101078/attributed", source="Orphanet:101078/ntbt", source="DOID:0110212"} +xref: OMIM:310490 {source="Orphanet:101078", source="MONDO:equivalentTo", source="Orphanet:101078/e", source="DOID:0110212"} xref: Orphanet:101078 {source="OMIM:310490", source="MONDO:equivalentTo", source="DOID:0110212"} xref: SCTID:763400005 {source="MONDO:equivalentTo"} xref: UMLS:C0795910 {source="Orphanet:101078", source="OMIM:310490", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -208894,15 +208855,15 @@ synonym: "Norrie-Warburg syndrome" RELATED [GARD:0007224] synonym: "pseudoglioma" RELATED [GARD:0007224] xref: DOID:0060844 {source="MONDO:equivalentTo"} xref: GARD:0007224 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:649/attributed", source="ORDO:649/ntbt", source="Orphanet:649", source="DOID:0060844"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/attributed", source="Orphanet:649/ntbt"} xref: ICD9:743.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069760 {source="ORDO:649/e", source="Orphanet:649"} -xref: MESH:C537849 {source="ORDO:649/e", source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844"} +xref: MedDRA:10069760 {source="Orphanet:649", source="Orphanet:649/e"} +xref: MESH:C537849 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"} xref: NCIT:C118634 {source="MONDO:equivalentTo"} -xref: OMIM:310600 {source="ORDO:649/e", source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844"} +xref: OMIM:310600 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"} xref: Orphanet:649 {source="MONDO:equivalentTo", source="DOID:0060844", source="OMIM:310600"} xref: SCTID:15228007 {source="MONDO:equivalentTo"} -xref: UMLS:C0266526 {source="NCBI:mim2gene_medline", source="ORDO:649/e", source="Orphanet:649", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060844", source="OMIM:310600"} +xref: UMLS:C0266526 {source="NCBI:mim2gene_medline", source="Orphanet:649", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060844", source="OMIM:310600", source="Orphanet:649/e"} is_a: MONDO:0019589 {source="Orphanet:649"} ! syndromic genetic hearing loss is_a: MONDO:0020119 {source="Orphanet:649"} ! X-linked syndromic intellectual disability is_a: MONDO:0020225 {source="Orphanet:649"} ! syndromic cataract @@ -209008,9 +208969,9 @@ synonym: "optic atrophy, non-Leber type, with early onset" RELATED [OMIM:311050] synonym: "optic atrophy, X-linked" RELATED [OMIM:311050] xref: DOID:0111443 {source="MONDO:equivalentTo"} xref: GARD:0010199 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="ORDO:98890/attributed", source="ORDO:98890/ntbt", source="Orphanet:98890"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:98890/attributed", source="Orphanet:98890/ntbt", source="Orphanet:98890"} xref: MESH:C537125 {source="MONDO:equivalentTo"} -xref: OMIM:311050 {source="MONDO:equivalentTo", source="ORDO:98890/e", source="Orphanet:98890"} +xref: OMIM:311050 {source="Orphanet:98890/e", source="MONDO:equivalentTo", source="Orphanet:98890"} xref: Orphanet:98890 {source="MONDO:equivalentTo", source="OMIM:311050"} xref: SCTID:721200000 {source="MONDO:equivalentTo"} xref: UMLS:C1839576 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98890", source="OMIM:311050"} @@ -209043,8 +209004,8 @@ synonym: "Rosenberg-Chutorian syndrome" EXACT [DOID:0110210, GARD:0000114, OMIM: synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210] xref: DOID:0110210 {source="MONDO:equivalentTo"} xref: GARD:0000114 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110210", source="ORDO:99014/attributed", source="ORDO:99014/ntbt", source="Orphanet:99014"} -xref: OMIM:311070 {source="GARD:0000114", source="MONDO:equivalentTo", source="DOID:0110210", source="ORDO:99014/e", source="Orphanet:99014"} +xref: ICD10CM:G60.0 {source="Orphanet:99014/attributed", source="Orphanet:99014/ntbt", source="DOID:0110210", source="Orphanet:99014"} +xref: OMIM:311070 {source="GARD:0000114", source="Orphanet:99014/e", source="MONDO:equivalentTo", source="DOID:0110210", source="Orphanet:99014"} xref: Orphanet:99014 {source="GARD:0000114", source="MONDO:equivalentTo", source="OMIM:311070", source="DOID:0110210"} xref: SCTID:763460007 {source="MONDO:equivalentTo"} xref: UMLS:C1839566 {source="GARD:0000114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311070", source="Orphanet:99014"} @@ -209097,11 +209058,11 @@ synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121] synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750] xref: DOID:0060316 {source="MONDO:equivalentTo"} xref: GARD:0004121 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2750", source="DOID:0060316", source="ORDO:2750/attributed", source="ORDO:2750/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2750/attributed", source="Orphanet:2750/ntbt", source="Orphanet:2750", source="DOID:0060316"} xref: MESH:C537134 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: MESH:D009958 {source="MONDO:subClassOf", source="DOID:0060316"} xref: NCIT:C75481 {source="MONDO:equivalentTo"} -xref: OMIM:311200 {source="ORDO:2750/e", source="Orphanet:2750", source="MONDO:equivalentTo", source="DOID:0060316"} +xref: OMIM:311200 {source="Orphanet:2750", source="MONDO:equivalentTo", source="DOID:0060316", source="Orphanet:2750/e"} xref: Orphanet:2750 {source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316"} xref: SCTID:1779005 {source="DOID:0060316", source="MONDO:directSiblingOf"} xref: SCTID:239029009 {source="DOID:0060316"} @@ -209110,9 +209071,9 @@ xref: SCTID:52868006 {source="MONDO:subClassOf", source="DOID:0060316"} xref: SCTID:763833006 {source="MONDO:equivalentTo"} xref: UMLS:C0026363 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060316"} xref: UMLS:C0029294 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060316"} -xref: UMLS:C1510460 {source="ORDO:2750/e", source="Orphanet:2750", source="NCIT:C75481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316"} +xref: UMLS:C1510460 {source="Orphanet:2750", source="NCIT:C75481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316", source="Orphanet:2750/e"} xref: UMLS:C2698658 {source="MONDO:equivalentObsolete"} -xref: UMLS:C2931426 {source="ORDO:2750/e", source="Orphanet:2750", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931426 {source="Orphanet:2750", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2750/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75481", source="indirect"} ! syndromic disease is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0015375 {source="DC-OMIM:311200", source="DOID:0060316", source="Orphanet:2750"} ! orofaciodigital syndrome @@ -209145,15 +209106,15 @@ synonym: "valproate sensitivity" RELATED [OMIM:311250] xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"} xref: EFO:0007409 {source="MONDO:equivalentTo"} xref: GARD:0008391 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.4 {source="Orphanet:664", source="ORDO:664/inclusion", source="DOID:9271", source="ORDO:664/ntbt"} -xref: MedDRA:10052450 {source="Orphanet:664", source="ORDO:664/e"} -xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="EFO:0007409", source="ORDO:664/e"} +xref: ICD10CM:E72.4 {source="Orphanet:664", source="Orphanet:664/ntbt", source="DOID:9271", source="Orphanet:664/inclusion"} +xref: MedDRA:10052450 {source="Orphanet:664", source="Orphanet:664/e"} +xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e", source="EFO:0007409"} xref: NCIT:C84957 {source="MONDO:equivalentTo", source="DOID:9271"} -xref: OMIM:311250 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="ORDO:664/e"} +xref: OMIM:311250 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e"} xref: Orphanet:664 {source="OMIM:311250", source="MONDO:equivalentTo"} xref: SCTID:124249000 {source="DOID:9271"} xref: SCTID:80908008 {source="MONDO:equivalentTo", source="DOID:9271"} -xref: UMLS:C0268542 {source="OMIM:311250", source="Orphanet:664", source="NCIT:C84957", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:9271", source="ORDO:664/e"} +xref: UMLS:C0268542 {source="OMIM:311250", source="Orphanet:664", source="NCIT:C84957", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e"} xref: UMLS:C1839530 {source="OMIM:311250", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004739 {source="DOID:9271", source="MESH:D020163", source="MONDO:Redundant", source="NCIT:C84957", source="OMIM:311250/inferred", source="Orphanet:664", source="linkedlifedata", source="linkedlifedata/inferred"} ! urea cycle disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8512 {source="mim2gene_medgen"} ! OTC @@ -209178,10 +209139,10 @@ synonym: "otopalatodigital syndrome, type I, X-linked dominant" EXACT [OMIM:3113 synonym: "Taybi syndrome" EXACT [Orphanet:90650] xref: DOID:0111783 {source="MONDO:equivalentTo"} xref: GARD:0005121 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:90650", source="ORDO:90650/attributed", source="ORDO:90650/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:90650", source="Orphanet:90650/attributed", source="Orphanet:90650/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C118845 {source="MONDO:equivalentTo"} -xref: OMIM:311300 {source="ORDO:90650/e", source="MONDO:equivalentTo", source="Orphanet:90650"} +xref: OMIM:311300 {source="MONDO:equivalentTo", source="Orphanet:90650", source="Orphanet:90650/e"} xref: Orphanet:669 {source="MONDO:subClassOf", source="OMIM:311300"} xref: Orphanet:90650 {source="MONDO:equivalentTo", source="OMIM:311300"} xref: SCTID:54036001 {source="MONDO:equivalentTo"} @@ -209261,12 +209222,12 @@ synonym: "Pallister W syndrome" RELATED [OMIM:311450] synonym: "Pallister-W syndrome" EXACT [Orphanet:2804] synonym: "W syndrome" EXACT [OMIM:311450] xref: GARD:0000358 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2804/attributed", source="ORDO:2804/ntbt", source="Orphanet:2804"} +xref: ICD10CM:Q87.8 {source="Orphanet:2804/attributed", source="Orphanet:2804/ntbt", source="Orphanet:2804"} xref: MESH:C538106 {source="MONDO:equivalentTo"} -xref: OMIM:311450 {source="MONDO:equivalentTo", source="ORDO:2804/e", source="Orphanet:2804"} +xref: OMIM:311450 {source="Orphanet:2804/e", source="MONDO:equivalentTo", source="Orphanet:2804"} xref: Orphanet:2804 {source="OMIM:311450", source="MONDO:equivalentTo"} xref: SCTID:719020006 {source="MONDO:equivalentTo"} -xref: UMLS:C0796110 {source="OMIM:311450", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2804/e", source="Orphanet:2804"} +xref: UMLS:C0796110 {source="OMIM:311450", source="Orphanet:2804/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2804"} is_a: MONDO:0015159 {source="Orphanet:2804"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015335 {source="Orphanet:2804"} ! orofacial clefting syndrome is_a: MONDO:0015650 {source="Orphanet:2804"} ! epilepsy syndrome @@ -209299,12 +209260,12 @@ synonym: "X-linked recessive basal ganglia disorder with intellectual disability synonym: "X-linked recessive basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] xref: DOID:0111781 {source="MONDO:equivalentTo"} xref: GARD:0003203 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G20 {source="Orphanet:2379", source="ORDO:2379/attributed", source="ORDO:2379/ntbt"} +xref: ICD10CM:G20 {source="Orphanet:2379/attributed", source="Orphanet:2379/ntbt", source="Orphanet:2379"} xref: MESH:C537179 {source="MONDO:equivalentTo"} -xref: OMIM:311510 {source="Orphanet:2379", source="ORDO:2379/e", source="MONDO:equivalentTo"} +xref: OMIM:311510 {source="Orphanet:2379", source="MONDO:equivalentTo", source="Orphanet:2379/e"} xref: Orphanet:2379 {source="MONDO:equivalentTo", source="OMIM:311510"} xref: SCTID:716107009 {source="MONDO:equivalentTo"} -xref: UMLS:C0796195 {source="Orphanet:2379", source="NCBI:mim2gene_medline", source="ORDO:2379/e", source="MONDO:equivalentTo", source="OMIM:311510"} +xref: UMLS:C0796195 {source="Orphanet:2379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:311510", source="Orphanet:2379/e"} is_a: MONDO:0020119 {source="Orphanet:2379"} ! X-linked syndromic intellectual disability is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16499 {source="mim2gene_medgen"} ! RAB39B @@ -209324,13 +209285,13 @@ synonym: "Pierre Robin sequence-faciodigital anomaly syndrome" EXACT [Orphanet:2 synonym: "Pierre Robin syndrome, faciodigital anomaly" RELATED [GARD:0001274] synonym: "Robin sequence with facial and digital anomalies" RELATED [GARD:0001274, MESH:C535926] xref: GARD:0001274 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2888/attributed", source="ORDO:2888/ntbt", source="Orphanet:2888"} +xref: ICD10CM:Q87.8 {source="Orphanet:2888", source="Orphanet:2888/attributed", source="Orphanet:2888/ntbt"} xref: MESH:C535926 {source="MONDO:equivalentTo"} -xref: OMIM:311895 {source="MONDO:equivalentTo", source="ORDO:2888/e", source="Orphanet:2888", source="GARD:0001274"} +xref: OMIM:311895 {source="MONDO:equivalentTo", source="Orphanet:2888", source="GARD:0001274", source="Orphanet:2888/e"} xref: Orphanet:2888 {source="MONDO:equivalentTo", source="OMIM:311895", source="GARD:0001274"} xref: SCTID:723461007 {source="MONDO:equivalentTo"} xref: UMLS:C1839464 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:311895"} -xref: UMLS:C2931064 {source="MONDO:equivalentTo", source="ORDO:2888/e", source="Orphanet:2888", source="GARD:0001274"} +xref: UMLS:C2931064 {source="MONDO:equivalentTo", source="Orphanet:2888", source="GARD:0001274", source="Orphanet:2888/e"} is_a: MONDO:0015335 {source="Orphanet:2888"} ! orofacial clefting syndrome property_value: confidence "8.333333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome xsd:anyURI {source="GARD:0001274"} @@ -209354,12 +209315,12 @@ synonym: "TARP syndrome, X-linked recessive" EXACT [OMIM:311900, OMIM:genemap2] synonym: "TARPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311900] xref: DOID:0111780 {source="MONDO:equivalentTo"} xref: GARD:0010089 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2886/attributed", source="ORDO:2886/ntbt", source="Orphanet:2886"} -xref: MESH:C536942 {source="ORDO:2886/e", source="MONDO:equivalentTo", source="Orphanet:2886"} -xref: OMIM:311900 {source="ORDO:2886/e", source="MONDO:equivalentTo", source="Orphanet:2886"} +xref: ICD10CM:Q87.8 {source="Orphanet:2886", source="Orphanet:2886/attributed", source="Orphanet:2886/ntbt"} +xref: MESH:C536942 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"} +xref: OMIM:311900 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"} xref: Orphanet:2886 {source="MONDO:equivalentTo", source="OMIM:311900"} xref: SCTID:725911008 {source="MONDO:equivalentTo"} -xref: UMLS:C1839463 {source="ORDO:2886/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2886", source="OMIM:311900"} +xref: UMLS:C1839463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2886", source="OMIM:311900", source="Orphanet:2886/e"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0018187 {source="Orphanet:2886"} ! genetic syndromic Pierre Robin syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9896 {source="mim2gene_medgen"} ! RBM10 @@ -209385,7 +209346,7 @@ xref: OMIM:312000 {source="MONDO:equivalentTo"} xref: Orphanet:90695 {source="MONDO:subClassOf", source="OMIM:312000"} xref: SCTID:237683004 {source="MONDO:equivalentTo"} xref: UMLS:C0342376 {source="OMIM:312000", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019591 {source="ORDO:90695/btnt", source="linkedlifedata"} ! panhypopituitarism +is_a: MONDO:0019591 {source="Orphanet:90695/btnt", source="linkedlifedata"} ! panhypopituitarism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11199 {source="mim2gene_medgen"} ! SOX3 property_value: confidence "1.1441176470588243" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked xsd:anyURI {source="GARD:0006737"} @@ -209407,13 +209368,13 @@ synonym: "properdin P Factor deficiency" RELATED [OMIM:312060] xref: DOID:0111768 {source="MONDO:equivalentTo"} xref: GARD:0004513 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: GARD:0009913 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D84.1 {source="ORDO:2966/attributed", source="ORDO:2966/ntbt", source="Orphanet:2966"} +xref: ICD10CM:D84.1 {source="Orphanet:2966", source="Orphanet:2966/attributed", source="Orphanet:2966/ntbt"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537241 {source="MONDO:equivalentTo", source="Orphanet:2966", source="ORDO:2966/e"} -xref: OMIM:312060 {source="MONDO:equivalentTo", source="Orphanet:2966", source="ORDO:2966/e"} +xref: MESH:C537241 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"} +xref: OMIM:312060 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"} xref: Orphanet:2966 {source="MONDO:equivalentTo", source="OMIM:312060"} xref: SCTID:81166004 {source="MONDO:equivalentTo"} -xref: UMLS:C0398762 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2966", source="ORDO:2966/e"} +xref: UMLS:C0398762 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2966", source="Orphanet:2966/e"} xref: UMLS:C1839454 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2966", source="OMIM:312060"} xref: UMLS:C1839455 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:312060"} xref: UMLS:C1839456 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:312060"} @@ -209442,15 +209403,15 @@ synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [Orphane synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210] xref: DOID:3210 {source="MONDO:equivalentTo"} xref: GARD:0004265 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="DOID:3210", source="Orphanet:702", source="ORDO:702/ntbt", source="ORDO:702/index"} -xref: MedDRA:10067610 {source="ORDO:702/e", source="Orphanet:702"} -xref: MESH:D020371 {source="DOID:3210", source="ORDO:702/e", source="Orphanet:702", source="MONDO:equivalentTo"} +xref: ICD10CM:E75.2 {source="DOID:3210", source="Orphanet:702/ntbt", source="Orphanet:702", source="Orphanet:702/index"} +xref: MedDRA:10067610 {source="Orphanet:702", source="Orphanet:702/e"} +xref: MESH:D020371 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"} xref: NCIT:C75487 {source="DOID:3210", source="MONDO:equivalentTo"} -xref: OMIM:213900 {source="Orphanet:702", source="MONDO:superClassOf", source="ORDO:702/btnt"} -xref: OMIM:312080 {source="DOID:3210", source="ORDO:702/e", source="Orphanet:702", source="MONDO:equivalentTo"} +xref: OMIM:213900 {source="Orphanet:702/btnt", source="Orphanet:702", source="MONDO:superClassOf"} +xref: OMIM:312080 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"} xref: Orphanet:702 {source="DOID:3210", source="MONDO:equivalentTo", source="OMIM:312080"} xref: SCTID:64855000 {source="DOID:3210", source="MONDO:equivalentTo"} -xref: UMLS:C0205711 {source="DOID:3210", source="ORDO:702/e", source="Orphanet:702", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75487", source="OMIM:312080"} +xref: UMLS:C0205711 {source="DOID:3210", source="Orphanet:702", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C75487", source="OMIM:312080", source="Orphanet:702/e"} is_a: MONDO:0005559 {source="MESH:D020371/inferred", source="MONDO:Redundant", source="NCIT:C75487", source="Orphanet:702/inferred"} ! neurodegenerative disease is_a: MONDO:0018609 {source="Orphanet:702"} ! syndromic hereditary optic neuropathy is_a: MONDO:0019046 {source="DOID:3210", source="DOID:3210/inferred", source="OMIM:312080", source="Orphanet:702", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukodystrophy @@ -209480,9 +209441,9 @@ synonym: "multiple pterygium syndrome, X-linked" RELATED [OMIM:312150] synonym: "pterygium syndrome multiple X-linked" RELATED [GARD:0004573] synonym: "pterygium syndrome, multiple, X-linked" RELATED [OMIM:312150] xref: GARD:0004573 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.8 {source="Orphanet:79447", source="ORDO:79447/attributed", source="ORDO:79447/ntbt"} +xref: ICD10CM:Q79.8 {source="Orphanet:79447", source="Orphanet:79447/attributed", source="Orphanet:79447/ntbt"} xref: MESH:C564072 {source="MONDO:equivalentTo"} -xref: OMIM:312150 {source="Orphanet:79447", source="MONDO:equivalentTo", source="GARD:0004573", source="ORDO:79447/e"} +xref: OMIM:312150 {source="Orphanet:79447", source="MONDO:equivalentTo", source="Orphanet:79447/e", source="GARD:0004573"} xref: Orphanet:79447 {source="MONDO:equivalentTo", source="OMIM:312150", source="GARD:0004573"} xref: SCTID:763462004 {source="MONDO:equivalentTo"} xref: UMLS:C1839440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312150", source="GARD:0004573"} @@ -209511,9 +209472,9 @@ synonym: "pyruvate dehydrogenase E1-ALPHA deficiency" RELATED [OMIM:312170] synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:312170] synonym: "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" EXACT [OMIM:312170, OMIM:genemap2] xref: GARD:0004620 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.4 {source="ORDO:79243/attributed", source="ORDO:79243/ntbt", source="Orphanet:79243"} +xref: ICD10CM:E74.4 {source="Orphanet:79243", source="Orphanet:79243/attributed", source="Orphanet:79243/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:312170 {source="GARD:0004620", source="MONDO:equivalentTo", source="ORDO:79243/e", source="Orphanet:79243"} +xref: OMIM:312170 {source="GARD:0004620", source="Orphanet:79243/e", source="MONDO:equivalentTo", source="Orphanet:79243"} xref: Orphanet:100977 {source="GARD:0004620"} xref: Orphanet:765 {source="MONDO:subClassOf", source="OMIM:312170"} xref: Orphanet:79243 {source="MONDO:equivalentTo", source="OMIM:312170"} @@ -209534,10 +209495,10 @@ synonym: "radial aplasia and anogenital anomalies" RELATED [OMIM:312190] synonym: "radial aplasia, X-linked" RELATED [OMIM:312190] synonym: "radius absent anogenital anomalies" RELATED [GARD:0004633] xref: GARD:0004633 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: MESH:C535281 {source="ORDO:3016/e", source="Orphanet:3016", source="MONDO:equivalentTo"} -xref: OMIM:312190 {source="ORDO:3016/e", source="Orphanet:3016", source="MONDO:equivalentTo"} +xref: MESH:C535281 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"} +xref: OMIM:312190 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"} xref: Orphanet:3016 {source="MONDO:equivalentTo", source="OMIM:312190"} -xref: UMLS:C1839410 {source="ORDO:3016/e", source="NCBI:mim2gene_medline", source="Orphanet:3016", source="MONDO:equivalentTo", source="OMIM:312190"} +xref: UMLS:C1839410 {source="NCBI:mim2gene_medline", source="Orphanet:3016", source="MONDO:equivalentTo", source="OMIM:312190", source="Orphanet:3016/e"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -209580,13 +209541,13 @@ xref: GTR:AN0098651 {source="UMLS:CN035075"} xref: GTR:AN0098652 {source="UMLS:CN035075"} xref: GTR:AN0098654 {source="UMLS:CN035075"} xref: GTR:AN0098655 {source="UMLS:CN035075"} -xref: ICD10CM:E34.5 {source="ORDO:90797/attributed", source="ORDO:90797/ntbt", source="Orphanet:90797"} +xref: ICD10CM:E34.5 {source="Orphanet:90797/attributed", source="Orphanet:90797/ntbt", source="Orphanet:90797"} xref: ICD10CM:E34.52 {source="MONDO:equivalentTo"} xref: MESH:C538435 {source="MONDO:equivalentTo"} xref: NCIT:C120192 {source="MONDO:equivalentTo"} xref: OMIM:307300 {source="MONDO:equivalentTo"} xref: OMIM:312100 {source="MONDO:equivalentTo"} -xref: OMIM:312300 {source="MONDO:equivalentTo", source="ORDO:90797/e", source="MONDO:preferredExternal", source="Orphanet:90797"} +xref: OMIM:312300 {source="Orphanet:90797/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:90797"} xref: Orphanet:90797 {source="MONDO:equivalentTo", source="OMIM:312300"} xref: SCTID:122811000119101 {source="MONDO:equivalentTo"} xref: UMLS:C0268301 {source="NCIT:C120192", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:312300", source="Orphanet:90797"} @@ -209620,8 +209581,8 @@ synonym: "PRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312550] synonym: "retinal dysplasia X-linked" RELATED [GARD:0004680] synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical, OMIM:312550] xref: GARD:0004680 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q14.1 {source="ORDO:1852/attributed", source="ORDO:1852/ntbt", source="Orphanet:1852"} -xref: OMIM:312550 {source="ORDO:1852/e", source="MONDO:equivalentTo", source="Orphanet:1852"} +xref: ICD10CM:Q14.1 {source="Orphanet:1852", source="Orphanet:1852/attributed", source="Orphanet:1852/ntbt"} +xref: OMIM:312550 {source="MONDO:equivalentTo", source="Orphanet:1852", source="Orphanet:1852/e"} xref: Orphanet:1852 {source="OMIM:312550", source="MONDO:equivalentTo"} xref: SCTID:715240000 {source="MONDO:equivalentTo"} xref: UMLS:C1418874 {source="OMIM:312550", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -209681,9 +209642,9 @@ synonym: "XLRS" EXACT ABBREVIATION [DOID:0060763, Orphanet:792] synonym: "XLRS1" RELATED ABBREVIATION [OMIM:312700] xref: DOID:0060763 {source="MONDO:equivalentTo"} xref: GARD:0004690 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q14.1 {source="ORDO:792/attributed", source="ORDO:792/ntbt", source="DOID:0060763", source="Orphanet:792"} +xref: ICD10CM:Q14.1 {source="DOID:0060763", source="Orphanet:792/attributed", source="Orphanet:792/ntbt", source="Orphanet:792"} xref: NCIT:C75483 {source="MONDO:equivalentTo"} -xref: OMIM:312700 {source="DOID:0060763", source="MONDO:equivalentTo", source="ORDO:792/e", source="Orphanet:792"} +xref: OMIM:312700 {source="Orphanet:792/e", source="DOID:0060763", source="MONDO:equivalentTo", source="Orphanet:792"} xref: Orphanet:792 {source="DOID:0060763", source="MONDO:equivalentTo", source="OMIM:312700"} xref: SCTID:86923008 {source="MONDO:equivalentTo"} xref: UMLS:C0271091 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:792"} @@ -209716,18 +209677,18 @@ synonym: "Rts" RELATED [OMIM:312750] synonym: "RTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312750] xref: DOID:1206 {source="MONDO:equivalentTo"} xref: GARD:0005696 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:F84.2 {source="ORDO:778/e", source="ORDO:778/specific", source="Orphanet:778", source="DOID:1206"} +xref: ICD10CM:F84.2 {source="Orphanet:778", source="Orphanet:778/specific", source="DOID:1206", source="Orphanet:778/e"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10039000 {source="ORDO:778/e", source="Orphanet:778"} -xref: MESH:D015518 {source="ORDO:778/e", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206"} +xref: MedDRA:10039000 {source="Orphanet:778", source="Orphanet:778/e"} +xref: MESH:D015518 {source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e"} xref: NCIT:C75488 {source="MONDO:equivalentTo", source="DOID:1206"} -xref: OMIM:312750 {source="ORDO:778/e", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206"} +xref: OMIM:312750 {source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e"} xref: OMIM:613454 {source="MONDO:superClassOf", source="DOID:1206"} xref: Orphanet:3095 {source="OMIM:312750", source="MONDO:superClassOf"} xref: Orphanet:778 {source="OMIM:312750", source="MONDO:equivalentTo"} xref: SCTID:192583003 {source="DOID:1206"} xref: SCTID:68618008 {source="MONDO:equivalentTo", source="DOID:1206"} -xref: UMLS:C0035372 {source="ORDO:778/e", source="OMIM:312750", source="NCBI:mim2gene_medline", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="NCIT:C75488"} +xref: UMLS:C0035372 {source="OMIM:312750", source="NCBI:mim2gene_medline", source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e", source="NCIT:C75488"} xref: UMLS:C1839332 {source="OMIM:312750", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2677682 {source="OMIM:312750", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2748910 {source="OMIM:312750", source="MONDO:superClassOf"} @@ -209755,7 +209716,7 @@ xref: OMIM:312780 {source="MONDO:equivalentTo"} xref: Orphanet:813 {source="MONDO:subClassOf", source="OMIM:312780"} xref: SCTID:702412005 {source="MONDO:equivalentTo"} xref: UMLS:C0220775 {source="OMIM:312780", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0008394 {source="ORDO:813/btnt"} ! Silver-Russell syndrome +is_a: MONDO:0008394 {source="Orphanet:813/btnt"} ! Silver-Russell syndrome property_value: confidence "0.26984126984127" xsd:double [Term] @@ -209766,12 +209727,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3134"} synonym: "SCARF syndrome" EXACT [OMIM:312830] synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830] xref: GARD:0000247 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:3134", source="ORDO:3134/attributed", source="ORDO:3134/ntbt"} -xref: MESH:C536625 {source="Orphanet:3134", source="ORDO:3134/e", source="MONDO:equivalentTo"} -xref: OMIM:312830 {source="Orphanet:3134", source="ORDO:3134/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:3134", source="Orphanet:3134/attributed", source="Orphanet:3134/ntbt"} +xref: MESH:C536625 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} +xref: OMIM:312830 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} xref: Orphanet:3134 {source="MONDO:equivalentTo", source="OMIM:312830"} xref: SCTID:734173003 {source="MONDO:equivalentTo"} -xref: UMLS:C1839321 {source="Orphanet:3134", source="ORDO:3134/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312830"} +xref: UMLS:C1839321 {source="Orphanet:3134", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3134/e", source="OMIM:312830"} is_a: MONDO:0015159 {source="Orphanet:3134"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:3134"} ! syndromic craniosynostosis is_a: MONDO:0020119 {source="Orphanet:3134"} ! X-linked syndromic intellectual disability @@ -209793,12 +209754,12 @@ synonym: "progressive basal ganglion dysfunction, mental and growth retardation, synonym: "Schimke X-linked intellectual disability syndrome" RELATED [OMIM:312840] synonym: "Schimke X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:312840] xref: GARD:0009288 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:85285/attributed", source="ORDO:85285/ntbt", source="Orphanet:85285"} -xref: MESH:C536630 {source="MONDO:equivalentTo", source="ORDO:85285/e", source="Orphanet:85285"} -xref: OMIM:312840 {source="MONDO:equivalentTo", source="ORDO:85285/e", source="Orphanet:85285"} +xref: ICD10CM:Q87.8 {source="Orphanet:85285/attributed", source="Orphanet:85285/ntbt", source="Orphanet:85285"} +xref: MESH:C536630 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"} +xref: OMIM:312840 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"} xref: Orphanet:85285 {source="MONDO:equivalentTo", source="OMIM:312840"} xref: SCTID:719010001 {source="MONDO:equivalentTo"} -xref: UMLS:C1839320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312840", source="ORDO:85285/e", source="Orphanet:85285"} +xref: UMLS:C1839320 {source="NCBI:mim2gene_medline", source="Orphanet:85285/e", source="MONDO:equivalentTo", source="OMIM:312840", source="Orphanet:85285"} is_a: MONDO:0020119 {source="Orphanet:85285"} ! X-linked syndromic intellectual disability property_value: confidence "8.6" xsd:double @@ -209835,13 +209796,13 @@ synonym: "Sgbs" RELATED [OMIM:312870] synonym: "Simpson-Golabi-Behmel syndrome" EXACT CLINGEN_PREFERRED [] synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373] xref: GARD:0007649 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="ORDO:373/attributed", source="ORDO:373/ntbt", source="Orphanet:373"} +xref: ICD10CM:Q87.3 {source="Orphanet:373", source="Orphanet:373/attributed", source="Orphanet:373/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537340 {source="DOID:0060248", source="MONDO:equivalentTo", source="ORDO:373/e", source="Orphanet:373"} +xref: MESH:C537340 {source="Orphanet:373/e", source="DOID:0060248", source="MONDO:equivalentTo", source="Orphanet:373"} xref: NCIT:C118787 {source="DOID:0060248"} xref: NCIT:C131002 {source="MONDO:equivalentTo"} xref: OMIM:300209 {source="DOID:0060248", source="MONDO:superClassOf"} -xref: OMIM:312870 {source="DOID:0060248", source="MONDO:superClassOf", source="ORDO:373/e", source="Orphanet:373"} +xref: OMIM:312870 {source="Orphanet:373/e", source="DOID:0060248", source="MONDO:superClassOf", source="Orphanet:373"} xref: Orphanet:373 {source="OMIM:312870", source="DOID:0060248", source="MONDO:equivalentTo"} xref: SCTID:439143004 {source="DOID:0060248", source="MONDO:equivalentTo"} xref: UMLS:C0796154 {source="NCBI:mim2gene_medline", source="OMIM:312870", source="DOID:0060248", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:373"} @@ -209867,13 +209828,13 @@ synonym: "spastic paraparesis - deafness" RELATED [GARD:0005555] synonym: "spastic paraparesis and deafness" RELATED [OMIM:312910] synonym: "Wells-Jankovic syndrome" EXACT [Orphanet:2815] xref: GARD:0005555 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="ORDO:2815/attributed", source="ORDO:2815/ntbt", source="MONDO:relatedTo", source="Orphanet:2815"} +xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:2815/attributed", source="Orphanet:2815/ntbt", source="Orphanet:2815"} xref: MESH:C536692 {source="MONDO:equivalentTo"} -xref: OMIM:312910 {source="MONDO:equivalentTo", source="ORDO:2815/e", source="Orphanet:2815"} +xref: OMIM:312910 {source="Orphanet:2815/e", source="MONDO:equivalentTo", source="Orphanet:2815"} xref: Orphanet:2815 {source="MONDO:equivalentTo", source="OMIM:312910"} xref: SCTID:715504003 {source="MONDO:equivalentTo"} xref: UMLS:C1839267 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931291 {source="MONDO:equivalentTo", source="OMIM:312910", source="ORDO:2815/e", source="Orphanet:2815"} +xref: UMLS:C2931291 {source="Orphanet:2815/e", source="MONDO:equivalentTo", source="OMIM:312910", source="Orphanet:2815"} is_a: MONDO:0003847 {source="MESH:C536692/inferred", source="Orphanet:2815/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0019589 {source="Orphanet:2815"} ! syndromic genetic hearing loss property_value: confidence "8.6" xsd:double @@ -209898,12 +209859,12 @@ synonym: "X-linked spastic paraplegia 2" EXACT [DOID:0110773] synonym: "X-linked spastic paraplegia type 2" EXACT [Orphanet:99015] xref: DOID:0110773 {source="MONDO:equivalentTo"} xref: GARD:0004923 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:99015", source="DOID:0110773", source="ORDO:99015/attributed", source="ORDO:99015/ntbt"} -xref: MESH:C536857 {source="Orphanet:99015", source="ORDO:99015/e"} -xref: OMIM:312920 {source="Orphanet:99015", source="MONDO:equivalentTo", source="ORDO:99015/e", source="DOID:0110773"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:99015", source="Orphanet:99015/attributed", source="Orphanet:99015/ntbt", source="DOID:0110773"} +xref: MESH:C536857 {source="Orphanet:99015", source="Orphanet:99015/e"} +xref: OMIM:312920 {source="Orphanet:99015", source="MONDO:equivalentTo", source="Orphanet:99015/e", source="DOID:0110773"} xref: Orphanet:99015 {source="MONDO:equivalentTo", source="OMIM:312920", source="DOID:0110773"} xref: SCTID:723622007 {source="MONDO:equivalentTo"} -xref: UMLS:C1839264 {source="Orphanet:99015", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:312920", source="ORDO:99015/e"} +xref: UMLS:C1839264 {source="Orphanet:99015", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99015/e", source="OMIM:312920"} is_a: MONDO:0017916 {source="Orphanet:99015"} ! pure or complex X-linked spastic paraplegia is_a: MONDO:0018609 {source="Orphanet:99015"} ! syndromic hereditary optic neuropathy is_a: MONDO:0019046 {source="Orphanet:99015"} ! leukodystrophy @@ -209954,16 +209915,16 @@ synonym: "X-linked bulbospinal muscular atrophy" EXACT [Orphanet:481] synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [DOID:0060161, Orphanet:481] xref: DOID:0060161 {source="MONDO:equivalentTo"} xref: GARD:0006818 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:481/attributed", source="ORDO:481/ntbt", source="Orphanet:481"} -xref: MedDRA:10068600 {source="ORDO:481/e", source="Orphanet:481"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:481", source="Orphanet:481/attributed", source="Orphanet:481/ntbt"} +xref: MedDRA:10068600 {source="Orphanet:481", source="Orphanet:481/e"} xref: MESH:D055534 {source="MONDO:equivalentTo", source="DOID:0060161"} xref: NCIT:C85233 {source="MONDO:equivalentTo", source="DOID:0060161"} -xref: OMIM:313200 {source="MONDO:equivalentTo", source="ORDO:481/e", source="Orphanet:481", source="DOID:0060161"} +xref: OMIM:313200 {source="MONDO:equivalentTo", source="Orphanet:481", source="DOID:0060161", source="Orphanet:481/e"} xref: Orphanet:481 {source="OMIM:313200", source="MONDO:equivalentTo"} xref: SCTID:230253001 {source="MONDO:subClassOf", source="DOID:0060161"} -xref: UMLS:C0393547 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:481/e", source="Orphanet:481"} -xref: UMLS:C0752353 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:481/e", source="Orphanet:481"} -xref: UMLS:C1839259 {source="NCBI:mim2gene_medline", source="OMIM:313200", source="MONDO:equivalentTo", source="ORDO:481/e", source="Orphanet:481", source="NCIT:C85233", source="DOID:0060161"} +xref: UMLS:C0393547 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:481", source="Orphanet:481/e"} +xref: UMLS:C0752353 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:481", source="Orphanet:481/e"} +xref: UMLS:C1839259 {source="NCBI:mim2gene_medline", source="OMIM:313200", source="MONDO:equivalentTo", source="Orphanet:481", source="NCIT:C85233", source="DOID:0060161", source="Orphanet:481/e"} xref: UMLS:C2931395 {source="OMIM:313200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001516 {source="DOID:0060161", source="indirect"} ! spinal muscular atrophy is_a: MONDO:0005372 {source="MONDO:0018388-obsoleted"} ! male infertility @@ -210040,9 +210001,9 @@ synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [OMIM:313420] synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420] synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544] xref: GARD:0008343 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="Orphanet:168544", source="ORDO:168544/attributed", source="ORDO:168544/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:168544/attributed", source="Orphanet:168544/ntbt", source="Orphanet:168544"} xref: MESH:C563124 {source="MONDO:equivalentTo"} -xref: OMIM:313420 {source="ORDO:168544/e", source="Orphanet:168544", source="MONDO:equivalentTo"} +xref: OMIM:313420 {source="Orphanet:168544", source="MONDO:equivalentTo", source="Orphanet:168544/e"} xref: Orphanet:168544 {source="OMIM:313420", source="MONDO:equivalentTo"} xref: UMLS:C0796172 {source="NCBI:mim2gene_medline", source="OMIM:313420", source="Orphanet:168544", source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="DC-OMIM:313420", source="Orphanet:168544"} ! spondylometaphyseal dysplasia @@ -210111,14 +210072,14 @@ synonym: "THAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313850] synonym: "thoraco-abdominal syndrome" EXACT [Orphanet:1335] synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical, OMIM:313850] xref: GARD:0007359 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q89.7 {source="ORDO:1335/attributed", source="ORDO:1335/ntbt", source="Orphanet:1335"} +xref: ICD10CM:Q89.7 {source="Orphanet:1335", source="Orphanet:1335/attributed", source="Orphanet:1335/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D058502 {source="ORDO:1335/e", source="MONDO:equivalentTo", source="Orphanet:1335"} +xref: MESH:D058502 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"} xref: NCIT:C99011 {source="MONDO:equivalentTo"} -xref: OMIM:313850 {source="ORDO:1335/e", source="MONDO:equivalentTo", source="Orphanet:1335"} +xref: OMIM:313850 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"} xref: Orphanet:1335 {source="OMIM:313850", source="MONDO:equivalentTo"} xref: SCTID:281587000 {source="MONDO:equivalentTo"} -xref: UMLS:C0559483 {source="OMIM:313850", source="ORDO:1335/e", source="MONDO:equivalentTo", source="NCIT:C99011", source="Orphanet:1335"} +xref: UMLS:C0559483 {source="OMIM:313850", source="MONDO:equivalentTo", source="NCIT:C99011", source="Orphanet:1335", source="Orphanet:1335/e"} xref: UMLS:C1839172 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1839173 {source="OMIM:313850", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015161 {source="Orphanet:1335", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -210147,8 +210108,8 @@ synonym: "X-linked thrombocytopenia" RELATED [GARD:0005176] synonym: "X-linked thrombocytopenia with normal platelets" EXACT [Orphanet:852] synonym: "XLT" RELATED ABBREVIATION [GARD:0005176] xref: GARD:0005176 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.4 {source="Orphanet:852", source="ORDO:852/attributed", source="ORDO:852/ntbt"} -xref: OMIM:313900 {source="Orphanet:852", source="MONDO:equivalentTo", source="ORDO:852/e"} +xref: ICD10CM:D69.4 {source="Orphanet:852", source="Orphanet:852/attributed", source="Orphanet:852/ntbt"} +xref: OMIM:313900 {source="Orphanet:852", source="MONDO:equivalentTo", source="Orphanet:852/e"} xref: Orphanet:268322 {source="MONDO:subClassOf", source="OMIM:313900"} xref: Orphanet:852 {source="MONDO:equivalentTo", source="OMIM:313900"} xref: UMLS:C1839163 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:313900"} @@ -210182,10 +210143,10 @@ synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced glob synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [NCIT:C134941] synonym: "XLTT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314050, Orphanet:231393] xref: DOID:0111767 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.4 {source="ORDO:231393/attributed", source="ORDO:231393/ntbt", source="Orphanet:231393"} +xref: ICD10CM:D69.4 {source="Orphanet:231393/attributed", source="Orphanet:231393/ntbt", source="Orphanet:231393"} xref: MESH:C564050 {source="MONDO:equivalentTo"} xref: NCIT:C134941 {source="MONDO:equivalentTo"} -xref: OMIM:314050 {source="MONDO:equivalentTo", source="Orphanet:231393", source="ORDO:231393/e"} +xref: OMIM:314050 {source="Orphanet:231393/e", source="MONDO:equivalentTo", source="Orphanet:231393"} xref: Orphanet:231393 {source="MONDO:equivalentTo", source="OMIM:314050"} xref: SCTID:718196002 {source="MONDO:equivalentTo"} xref: UMLS:C1839161 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C134941", source="OMIM:314050"} @@ -210229,10 +210190,10 @@ synonym: "X-linked torsion dystonia-Parkinsonism syndrome" RELATED [GARD:0010533 synonym: "XDP" EXACT ABBREVIATION [Orphanet:53351] xref: DOID:0090057 {source="MONDO:equivalentTo"} xref: GARD:0010533 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="ORDO:53351/attributed", source="ORDO:53351/ntbt", source="DOID:0090057", source="Orphanet:53351"} +xref: ICD10CM:G24.1 {source="DOID:0090057", source="Orphanet:53351/attributed", source="Orphanet:53351/ntbt", source="Orphanet:53351"} xref: MESH:C564048 {source="MONDO:equivalentTo"} xref: NCIT:C126330 {source="MONDO:equivalentTo"} -xref: OMIM:314250 {source="MONDO:equivalentTo", source="DOID:0090057", source="ORDO:53351/e", source="Orphanet:53351"} +xref: OMIM:314250 {source="Orphanet:53351/e", source="MONDO:equivalentTo", source="DOID:0090057", source="Orphanet:53351"} xref: Orphanet:53351 {source="MONDO:equivalentTo", source="DOID:0090057", source="OMIM:314250"} xref: SCTID:698279003 {source="MONDO:equivalentTo"} xref: UMLS:C1839130 {source="NCIT:C126330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:53351", source="OMIM:314250"} @@ -210258,11 +210219,11 @@ synonym: "Tkcr syndrome" RELATED [OMIM:314300] synonym: "torticollis keloids cryptorchidism renal dysplasia" RELATED [GARD:0005230] synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical, OMIM:314300] xref: GARD:0005230 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3341/attributed", source="ORDO:3341/ntbt", source="Orphanet:3341"} -xref: MESH:C536970 {source="MONDO:equivalentTo", source="Orphanet:3341", source="ORDO:3341/e"} -xref: OMIM:314300 {source="MONDO:equivalentTo", source="Orphanet:3341", source="ORDO:3341/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3341/attributed", source="Orphanet:3341/ntbt", source="Orphanet:3341"} +xref: MESH:C536970 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"} +xref: OMIM:314300 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"} xref: Orphanet:3341 {source="OMIM:314300", source="MONDO:equivalentTo"} -xref: UMLS:C1839129 {source="NCBI:mim2gene_medline", source="OMIM:314300", source="MONDO:equivalentTo", source="Orphanet:3341", source="ORDO:3341/e"} +xref: UMLS:C1839129 {source="Orphanet:3341/e", source="NCBI:mim2gene_medline", source="OMIM:314300", source="MONDO:equivalentTo", source="Orphanet:3341"} is_a: MONDO:0015620 {source="Orphanet:3341"} ! syndromic urogenital tract malformation relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "8.6" xsd:double @@ -210278,9 +210239,9 @@ synonym: "trigonocephaly with short stature and developmental delay" RELATED [OM synonym: "trigonocephaly, short stature and developmental delay" RELATED [GARD:0000243] synonym: "trigonocephaly, short stature, and retarded psychomotor development" RELATED [GARD:0000243] xref: GARD:0000243 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:3369", source="ORDO:3369/attributed", source="ORDO:3369/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:3369/attributed", source="Orphanet:3369/ntbt", source="Orphanet:3369"} xref: MESH:C536620 {source="MONDO:equivalentTo"} -xref: OMIM:314320 {source="Orphanet:3369", source="ORDO:3369/e", source="MONDO:equivalentTo"} +xref: OMIM:314320 {source="Orphanet:3369", source="MONDO:equivalentTo", source="Orphanet:3369/e"} xref: Orphanet:3369 {source="OMIM:314320", source="MONDO:equivalentTo"} xref: SCTID:733066002 {source="MONDO:equivalentTo"} xref: UMLS:C1839125 {source="OMIM:314320", source="Orphanet:3369", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -210303,11 +210264,11 @@ synonym: "ulnar hypoplasia-lobster-claw deformity of feet syndrome" EXACT [Orpha synonym: "Van De Berghe Dequeker syndrome" RELATED [GARD:0005400] synonym: "Van den Berghe-Dequecker syndrome" EXACT [Orphanet:1122] xref: GARD:0005400 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q73.8 {source="Orphanet:1122", source="ORDO:1122/attributed", source="ORDO:1122/ntbt"} -xref: MESH:C536936 {source="ORDO:1122/e", source="Orphanet:1122", source="MONDO:equivalentTo"} -xref: OMIM:314360 {source="ORDO:1122/e", source="Orphanet:1122", source="MONDO:equivalentTo"} +xref: ICD10CM:Q73.8 {source="Orphanet:1122/attributed", source="Orphanet:1122/ntbt", source="Orphanet:1122"} +xref: MESH:C536936 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"} +xref: OMIM:314360 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"} xref: Orphanet:1122 {source="MONDO:equivalentTo", source="OMIM:314360"} -xref: UMLS:C1839123 {source="ORDO:1122/e", source="Orphanet:1122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:314360"} +xref: UMLS:C1839123 {source="Orphanet:1122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1122/e", source="OMIM:314360"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation property_value: confidence "7.125" xsd:double @@ -210336,7 +210297,7 @@ xref: Orphanet:3412 {source="MONDO:subClassOf", source="OMIM:314390"} xref: UMLS:C1839115 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931228 {source="MONDO:equivalentTo", source="OMIM:314390"} is_a: MONDO:0008642 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! VACTERL/vater association -is_a: MONDO:0010172 {source="ORDO:3412/btnt"} ! VACTERL with hydrocephalus +is_a: MONDO:0010172 {source="Orphanet:3412/btnt"} ! VACTERL with hydrocephalus relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.09739368998628262" xsd:double @@ -210353,9 +210314,9 @@ synonym: "valvular heart disease, congenital" EXACT [OMIM:314400] synonym: "XMVD" EXACT ABBREVIATION [GARD:0001096] xref: DOID:0111765 {source="MONDO:equivalentTo"} xref: GARD:0001096 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q24.8 {source="ORDO:1864/attributed", source="ORDO:1864/ntbt", source="Orphanet:1864"} +xref: ICD10CM:Q24.8 {source="Orphanet:1864", source="Orphanet:1864/attributed", source="Orphanet:1864/ntbt"} xref: MESH:C535576 {source="MONDO:equivalentTo"} -xref: OMIM:314400 {source="ORDO:1864/btnt", source="MONDO:equivalentTo", source="Orphanet:1864"} +xref: OMIM:314400 {source="MONDO:equivalentTo", source="Orphanet:1864", source="Orphanet:1864/btnt"} xref: Orphanet:1864 {source="MONDO:equivalentObsolete", source="OMIM:314400"} xref: Orphanet:555877 {source="MONDO:equivalentTo"} xref: SCTID:718128009 {source="MONDO:equivalentTo"} @@ -210376,7 +210337,7 @@ synonym: "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidros synonym: "van den Bosch syndrome" EXACT [OMIM:314500] xref: GARD:0005453 {source="MONDO:equivalentTo"} xref: MESH:C563129 {source="MONDO:equivalentTo"} -xref: OMIM:314500 {source="MONDO:equivalentTo", source="Orphanet:3417", source="ORDO:3417/e"} +xref: OMIM:314500 {source="MONDO:equivalentTo", source="Orphanet:3417", source="Orphanet:3417/e"} xref: Orphanet:3417 {source="MONDO:equivalentTo", source="OMIM:314500"} xref: SCTID:733110004 {source="MONDO:equivalentTo"} xref: UMLS:C0796192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:314500", source="Orphanet:3417"} @@ -210446,17 +210407,17 @@ synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:00 xref: DOID:0060815 {source="MONDO:equivalentTo"} xref: GARD:0007890 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:0009984 {source="MONDO:equivalentObsolete", source="OMIM-shared"} -xref: ICD10CM:G71.8 {source="Orphanet:3454", source="ORDO:3454/attributed", source="ORDO:3454/ntbt"} -xref: ICD10CM:Q87.8 {source="ORDO:85283/attributed", source="ORDO:85283/ntbt", source="DOID:0060815", source="Orphanet:85283"} -xref: MESH:C536703 {source="ORDO:3454/e", source="Orphanet:3454", source="MONDO:equivalentTo"} -xref: MESH:C537472 {source="MONDO:equivalentObsolete", source="ORDO:85283/e", source="DOID:0060815", source="Orphanet:85283"} -xref: OMIM:314580 {source="ORDO:3454/e", source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:85283"} +xref: ICD10CM:G71.8 {source="Orphanet:3454/attributed", source="Orphanet:3454/ntbt", source="Orphanet:3454"} +xref: ICD10CM:Q87.8 {source="Orphanet:85283/attributed", source="Orphanet:85283/ntbt", source="DOID:0060815", source="Orphanet:85283"} +xref: MESH:C536703 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e"} +xref: MESH:C537472 {source="Orphanet:85283/e", source="MONDO:equivalentObsolete", source="DOID:0060815", source="Orphanet:85283"} +xref: OMIM:314580 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e", source="Orphanet:85283"} xref: Orphanet:3454 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:314580"} xref: Orphanet:85283 {source="MONDO:equivalentTo", source="OMIM:309605", source="DOID:0060815"} xref: SCTID:719012009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:722456001 {source="MONDO:equivalentTo"} -xref: UMLS:C0796200 {source="ORDO:3454/e", source="Orphanet:3454", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:314580"} -xref: UMLS:C1839735 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:309605", source="ORDO:85283/e", source="DOID:0060815", source="Orphanet:85283"} +xref: UMLS:C0796200 {source="Orphanet:3454", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3454/e", source="OMIM:314580"} +xref: UMLS:C1839735 {source="Orphanet:85283/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:309605", source="DOID:0060815", source="Orphanet:85283"} is_a: MONDO:0015159 {source="Orphanet:85283"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015168 {source="Orphanet:3454"} ! arthrogryposis multiplex congenita is_a: MONDO:0020119 {source="DC-OMIM:309605", source="DOID:0060815", source="Orphanet:85283"} ! X-linked syndromic intellectual disability @@ -210478,14 +210439,14 @@ synonym: "Cervicooculoacoustic syndrome" EXACT [OMIM:314600, Orphanet:3456] synonym: "COA syndrome" RELATED [GARD:0005569] synonym: "Wildervanck syndrome" EXACT [OMIM:314600] xref: GARD:0005569 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3456", source="ORDO:3456/attributed", source="ORDO:3456/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3456/attributed", source="Orphanet:3456/ntbt", source="Orphanet:3456"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069402 {source="ORDO:3456/e", source="Orphanet:3456"} -xref: MESH:C536706 {source="ORDO:3456/e", source="Orphanet:3456"} -xref: OMIM:314600 {source="ORDO:3456/e", source="Orphanet:3456", source="MONDO:equivalentTo"} +xref: MedDRA:10069402 {source="Orphanet:3456", source="Orphanet:3456/e"} +xref: MESH:C536706 {source="Orphanet:3456", source="Orphanet:3456/e"} +xref: OMIM:314600 {source="Orphanet:3456", source="MONDO:equivalentTo", source="Orphanet:3456/e"} xref: Orphanet:3456 {source="MONDO:equivalentTo", source="OMIM:314600"} xref: SCTID:79665007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265239 {source="ORDO:3456/e", source="NCBI:mim2gene_medline", source="Orphanet:3456", source="MONDO:equivalentTo", source="OMIM:314600"} +xref: UMLS:C0265239 {source="NCBI:mim2gene_medline", source="Orphanet:3456", source="MONDO:equivalentTo", source="OMIM:314600", source="Orphanet:3456/e"} is_a: MONDO:0015334 {source="Orphanet:3456"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome @@ -210553,7 +210514,7 @@ xref: UMLS:C1839074 {source="OMIM:400042", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1839075 {source="OMIM:400042", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004983 {source="MONDO:Redundant", source="OMIM:400042", source="indirect"} ! azoospermia is_a: MONDO:0010595 ! Sertoli cell-only syndrome -is_a: MONDO:0015607 {source="ORDO:1646/btnt"} ! partial chromosome Y deletion +is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.18928571428571428" xsd:double @@ -210595,27 +210556,27 @@ synonym: "Swyer syndrome" EXACT [DOID:14448, Orphanet:242] synonym: "testis-determining Factor, X-chromosomal" RELATED [OMIM:400044] xref: DOID:14448 {source="MONDO:equivalentTo"} xref: GARD:0005068 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q99.1 {source="ORDO:242/inclusion", source="ORDO:242/e", source="Orphanet:242"} +xref: ICD10CM:Q99.1 {source="Orphanet:242/e", source="Orphanet:242/inclusion", source="Orphanet:242"} xref: MESH:C567574 {source="MONDO:superClassOf"} xref: MESH:C567575 {source="MONDO:superClassOf"} xref: MESH:D006061 {source="DOID:14448", source="MONDO:equivalentTo"} xref: NCIT:C120198 {source="DOID:14448", source="MONDO:equivalentTo"} -xref: OMIM:154230 {source="DOID:14448", source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} -xref: OMIM:233420 {source="DOID:14448", source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} -xref: OMIM:300018 {source="DOID:14448", source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} -xref: OMIM:400044 {source="DOID:14448", source="MONDO:superClassOf", source="ORDO:242/e", source="Orphanet:242"} +xref: OMIM:154230 {source="DOID:14448", source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} +xref: OMIM:233420 {source="DOID:14448", source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} +xref: OMIM:300018 {source="DOID:14448", source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} +xref: OMIM:400044 {source="DOID:14448", source="Orphanet:242/e", source="MONDO:superClassOf", source="Orphanet:242"} xref: OMIM:607080 {source="DOID:14448", source="MONDO:superClassOf"} -xref: OMIM:612965 {source="DOID:14448", source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} -xref: OMIM:613080 {source="DOID:14448", source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} -xref: OMIM:613762 {source="DOID:14448", source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} +xref: OMIM:612965 {source="DOID:14448", source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} +xref: OMIM:613080 {source="DOID:14448", source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} +xref: OMIM:613762 {source="DOID:14448", source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} xref: OMIM:614279 {source="DOID:14448", source="MONDO:superClassOf"} xref: OMIM:616067 {source="DOID:14448", source="MONDO:superClassOf"} -xref: OMIM:616425 {source="ORDO:242/btnt", source="MONDO:superClassOf", source="Orphanet:242"} +xref: OMIM:616425 {source="MONDO:superClassOf", source="Orphanet:242/btnt", source="Orphanet:242"} xref: OMIMPS:400044 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:400044", source="MONDO:equivalentTo"} xref: SCTID:95218005 {source="MONDO:equivalentTo"} xref: UMLS:C0018054 {source="DOID:14448", source="MONDO:equivalentTo", source="NCIT:C120198", source="Orphanet:242"} -xref: UMLS:C2936694 {source="MONDO:equivalentTo", source="ORDO:242/e", source="Orphanet:242"} +xref: UMLS:C2936694 {source="Orphanet:242/e", source="MONDO:equivalentTo", source="Orphanet:242"} is_a: MONDO:0001967 {source="DOID:14448", source="MESH:D006061", source="NCIT:C120198", source="OMIM:400044/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonadal dysgenesis is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder @@ -210652,7 +210613,7 @@ xref: Orphanet:1646 {source="MONDO:subClassOf", source="OMIM:415000"} xref: UMLS:C1839071 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:415000"} xref: UMLS:C1839072 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:415000"} is_a: MONDO:0004983 {source="DC-OMIM:415000", source="OMIM:415000"} ! azoospermia -is_a: MONDO:0015607 {source="ORDO:1646/btnt"} ! partial chromosome Y deletion +is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.18928571428571428" xsd:double @@ -210664,7 +210625,7 @@ subset: ordo_disease {source="Orphanet:206484"} synonym: "gonad blastoma" EXACT [MONDO:patterns/location] synonym: "gonadoblastoma" EXACT [NCIT:C3754] xref: DOID:3301 {source="MONDO:equivalentTo"} -xref: ICD10CM:D39.1 {source="ORDO:206484/ntbt", source="Orphanet:206484"} +xref: ICD10CM:D39.1 {source="Orphanet:206484/ntbt", source="Orphanet:206484"} xref: ICDO:9073/1 {source="NCIT:C3754"} xref: MESH:D018238 {source="DOID:3301", source="MONDO:equivalentTo"} xref: NCIT:C3754 {source="DOID:3301", source="MONDO:equivalentTo", source="exact-label-match"} @@ -210726,13 +210687,13 @@ synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675] synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745] xref: DOID:0080198 {source="MONDO:equivalentTo"} xref: GARD:0009511 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="Orphanet:137675", source="ORDO:137675/attributed", source="ORDO:137675/ntbt"} -xref: MESH:C535584 {source="Orphanet:137675", source="ORDO:137675/e", source="MONDO:equivalentTo"} +xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="Orphanet:137675", source="Orphanet:137675/attributed", source="Orphanet:137675/ntbt"} +xref: MESH:C535584 {source="Orphanet:137675", source="MONDO:equivalentTo", source="Orphanet:137675/e"} xref: NCIT:C45745 {source="MONDO:equivalentTo"} -xref: OMIM:212080 {source="Orphanet:137675", source="MONDO:superClassOf", source="ORDO:137675/btnt"} -xref: OMIM:500000 {source="Orphanet:137675", source="ORDO:137675/e", source="DOID:0080198", source="MONDO:equivalentTo", source="GARD:0009511"} +xref: OMIM:212080 {source="Orphanet:137675", source="Orphanet:137675/btnt", source="MONDO:superClassOf"} +xref: OMIM:500000 {source="Orphanet:137675", source="DOID:0080198", source="MONDO:equivalentTo", source="Orphanet:137675/e", source="GARD:0009511"} xref: Orphanet:137675 {source="OMIM:500000", source="MONDO:equivalentTo", source="GARD:0009511"} -xref: UMLS:C1708371 {source="Orphanet:137675", source="ORDO:137675/e", source="OMIM:500000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0009511", source="NCIT:C45745"} +xref: UMLS:C1708371 {source="Orphanet:137675", source="OMIM:500000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137675/e", source="GARD:0009511", source="NCIT:C45745"} xref: UMLS:CN239812 {source="MONDO:equivalentTo"} is_a: MONDO:0000591 {source="DOID:0080198", source="indirect"} ! intrinsic cardiomyopathy is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder @@ -210761,7 +210722,7 @@ xref: OMIM:500001 {source="MONDO:equivalentTo"} xref: Orphanet:99718 {source="MONDO:subClassOf", source="OMIM:500001"} xref: UMLS:C1839040 {source="OMIM:500001", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0010788 {source="MESH:C536024"} ! Leber hereditary optic neuropathy -is_a: MONDO:0020478 {source="ORDO:99718/btnt"} ! Leber plus disease +is_a: MONDO:0020478 {source="Orphanet:99718/btnt"} ! Leber plus disease property_value: confidence "29.33333333333344" xsd:double [Term] @@ -210771,9 +210732,9 @@ subset: ordo_disease {source="Orphanet:2596"} synonym: "mitochondrial myopathy with diabetes" RELATED [OMIM:500002] synonym: "mitochondrial myopathy, lipid type" RELATED [OMIM:500002] xref: GARD:0003881 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.3 {source="Orphanet:2596", source="ORDO:2596/attributed", source="ORDO:2596/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:2596/attributed", source="Orphanet:2596/ntbt", source="Orphanet:2596"} xref: MESH:C564026 {source="MONDO:equivalentTo"} -xref: OMIM:500002 {source="ORDO:2596/e", source="Orphanet:2596", source="MONDO:equivalentTo"} +xref: OMIM:500002 {source="Orphanet:2596", source="MONDO:equivalentTo", source="Orphanet:2596/e"} xref: Orphanet:2596 {source="OMIM:500002", source="MONDO:equivalentTo"} xref: UMLS:C1839028 {source="Orphanet:2596", source="NCBI:mim2gene_medline", source="OMIM:500002", source="MONDO:equivalentTo"} is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:2596"} ! diabetes mellitus @@ -210793,7 +210754,7 @@ xref: OMIM:500003 {source="MONDO:equivalentTo"} xref: Orphanet:1576 {source="MONDO:subClassOf", source="OMIM:500003"} xref: Orphanet:225154 {source="MONDO:subClassOf", source="OMIM:500003"} xref: UMLS:C1839022 {source="OMIM:500003", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010080 {source="ORDO:225154/btnt"} ! familial infantile bilateral striatal necrosis +is_a: MONDO:0010080 {source="Orphanet:225154/btnt"} ! familial infantile bilateral striatal necrosis property_value: confidence "2.2007315957933242" xsd:double [Term] @@ -210871,9 +210832,9 @@ synonym: "mitochondrial non-syndromic neurosensory deafness" NARROW [Orphanet:90 synonym: "mitochondrial non-syndromic sensorineural deafness" NARROW [OMIM:500008] xref: DOID:0111751 {source="MONDO:equivalentTo"} xref: GARD:0001709 {source="MONDO:equivalentTo"} -xref: ICD10CM:H90.3 {source="ORDO:90641/attributed", source="ORDO:90641/ntbt", source="Orphanet:90641"} -xref: OMIM:221745 {source="MONDO:superClassOf", source="ORDO:90641/btnt", source="Orphanet:90641"} -xref: OMIM:500008 {source="ORDO:90641/e", source="MONDO:equivalentTo", source="Orphanet:90641"} +xref: ICD10CM:H90.3 {source="Orphanet:90641", source="Orphanet:90641/attributed", source="Orphanet:90641/ntbt"} +xref: OMIM:221745 {source="MONDO:superClassOf", source="Orphanet:90641", source="Orphanet:90641/btnt"} +xref: OMIM:500008 {source="MONDO:equivalentTo", source="Orphanet:90641", source="Orphanet:90641/e"} xref: Orphanet:90641 {source="MONDO:equivalentTo", source="OMIM:500008"} xref: UMLS:C1857332 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90641"} xref: UMLS:C3151897 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:500008"} @@ -210898,8 +210859,8 @@ synonym: "MMIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500009] synonym: "respiratory chain deficiency, infantile, transient" RELATED [OMIM:500009] synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet:254864] synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864] -xref: ICD10CM:G71.3 {source="ORDO:254864/attributed", source="ORDO:254864/ntbt", source="Orphanet:254864"} -xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="ORDO:254864/e"} +xref: ICD10CM:G71.3 {source="Orphanet:254864", source="Orphanet:254864/attributed", source="Orphanet:254864/ntbt"} +xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="Orphanet:254864/e"} xref: Orphanet:254864 {source="MONDO:equivalentTo", source="OMIM:500009"} xref: UMLS:C3151898 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:500009"} is_a: MONDO:0009637 {source="DC-OMIM:500009"} ! inborn mitochondrial myopathy @@ -210926,7 +210887,7 @@ xref: DOID:0111184 {source="MONDO:equivalentTo"} xref: OMIM:500011 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="MONDO:subClassOf", source="OMIM:500011"} xref: UMLS:C4225415 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000863 {source="ORDO:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia +is_a: MONDO:0000863 {source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia property_value: confidence "2.0694736842105272" xsd:double [Term] @@ -210974,14 +210935,14 @@ synonym: "mitochondrial diabetes" EXACT [Orphanet:225] synonym: "Niddm with deafness" RELATED [OMIM:520000] synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [OMIM:520000] xref: GARD:0004003 {source="MONDO:equivalentTo"} -xref: ICD10CM:E13.8 {source="Orphanet:225", source="ORDO:225/attributed", source="ORDO:225/ntbt"} +xref: ICD10CM:E13.8 {source="Orphanet:225", source="Orphanet:225/attributed", source="Orphanet:225/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536246 {source="Orphanet:225", source="MONDO:equivalentTo", source="ORDO:225/e"} +xref: MESH:C536246 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"} xref: NCIT:C131859 {source="MONDO:equivalentTo"} -xref: OMIM:520000 {source="Orphanet:225", source="MONDO:equivalentTo", source="ORDO:225/e"} +xref: OMIM:520000 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"} xref: Orphanet:225 {source="OMIM:520000", source="MONDO:equivalentTo"} xref: SCTID:237619009 {source="MONDO:equivalentTo"} -xref: UMLS:C0342289 {source="Orphanet:225", source="NCBI:mim2gene_medline", source="OMIM:520000", source="MONDO:equivalentTo", source="ORDO:225/e"} +xref: UMLS:C0342289 {source="Orphanet:225", source="NCBI:mim2gene_medline", source="OMIM:520000", source="MONDO:equivalentTo", source="Orphanet:225/e"} xref: UMLS:C4330695 {source="MONDO:equivalentTo"} is_a: MONDO:0005015 {source="MESH:C536246/inferred", source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="NCIT:C131859", source="Orphanet:225", source="Orphanet:225/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetes mellitus is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -210997,9 +210958,9 @@ name: chronic diarrhea with villous atrophy def: "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." [Orphanet:1670] subset: ordo_disease {source="Orphanet:1670"} synonym: "diarrhea, chronic, with villous atrophy" RELATED [OMIM:520100] -xref: ICD10CM:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="ORDO:1670/attributed", source="ORDO:1670/ntbt"} +xref: ICD10CM:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="Orphanet:1670/attributed", source="Orphanet:1670/ntbt"} xref: MESH:C564019 {source="MONDO:equivalentTo"} -xref: OMIM:520100 {source="Orphanet:1670", source="MONDO:equivalentTo", source="ORDO:1670/e"} +xref: OMIM:520100 {source="Orphanet:1670", source="MONDO:equivalentTo", source="Orphanet:1670/e"} xref: Orphanet:1670 {source="OMIM:520100", source="MONDO:equivalentTo"} xref: UMLS:C1838912 {source="Orphanet:1670", source="OMIM:520100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:1670", source="Orphanet:1670/inferred"} ! intestinal disorder @@ -211029,17 +210990,17 @@ synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000] xref: DOID:12934 {source="MONDO:equivalentTo"} xref: GARD:0006817 {source="MONDO:equivalentTo"} -xref: ICD10CM:H49.8 {source="ORDO:480/ntbt", source="Orphanet:480", source="ORDO:480/inclusion"} +xref: ICD10CM:H49.8 {source="Orphanet:480/inclusion", source="Orphanet:480", source="Orphanet:480/ntbt"} xref: ICD10CM:H49.81 {source="DOID:12934"} -xref: MedDRA:10048804 {source="ORDO:480/e", source="Orphanet:480"} -xref: MESH:D007625 {source="ORDO:480/e", source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480"} +xref: MedDRA:10048804 {source="Orphanet:480", source="Orphanet:480/e"} +xref: MESH:D007625 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"} xref: NCIT:C84798 {source="DOID:12934", source="MONDO:equivalentTo"} -xref: OMIM:530000 {source="ORDO:480/e", source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480"} +xref: OMIM:530000 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"} xref: Orphanet:480 {source="OMIM:530000", source="MONDO:equivalentTo"} xref: SCTID:25792000 {source="DOID:12934", source="MONDO:equivalentTo"} xref: SCTID:51464001 {source="DOID:12934"} xref: SCTID:77835008 {source="DOID:12934"} -xref: UMLS:C0022541 {source="NCIT:C84798", source="OMIM:530000", source="ORDO:480/e", source="DOID:12934", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:480"} +xref: UMLS:C0022541 {source="NCIT:C84798", source="OMIM:530000", source="DOID:12934", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84798", source="indirect"} ! syndromic disease is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0005181 {source="DOID:12934", source="MESH:D007625"} ! progressive external ophthalmoplegia @@ -211070,12 +211031,12 @@ synonym: "LHON" EXACT ABBREVIATION [Orphanet:104] synonym: "optic atrophy, Leber type" RELATED [GARD:0006870] xref: DOID:705 {source="MONDO:equivalentTo"} xref: GARD:0006870 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:104", source="ORDO:104/attributed", source="ORDO:104/ntbt"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:104", source="Orphanet:104/attributed", source="Orphanet:104/ntbt"} xref: ICD10CM:H47.22 {source="DOID:705"} xref: MESH:D029242 {source="DOID:705", source="MONDO:equivalentTo"} xref: NCIT:C84808 {source="DOID:705", source="MONDO:equivalentTo"} -xref: OMIM:308905 {source="Orphanet:104", source="MONDO:superClassOf", source="ORDO:104/btnt"} -xref: OMIM:535000 {source="Orphanet:104", source="DOID:705", source="MONDO:equivalentTo", source="ORDO:104/e"} +xref: OMIM:308905 {source="Orphanet:104", source="Orphanet:104/btnt", source="MONDO:superClassOf"} +xref: OMIM:535000 {source="Orphanet:104", source="DOID:705", source="MONDO:equivalentTo", source="Orphanet:104/e"} xref: Orphanet:104 {source="OMIM:535000", source="MONDO:equivalentTo"} xref: SCTID:194045006 {source="DOID:705"} xref: SCTID:230510002 {source="DOID:705"} @@ -211105,16 +211066,16 @@ synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-li xref: DOID:3687 {source="MONDO:equivalentTo"} xref: GARD:0007009 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:E88.41 {source="DOID:3687", source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:550/attributed", source="ORDO:550/ntbt", source="Orphanet:550"} +xref: ICD10CM:G71.3 {source="Orphanet:550/attributed", source="Orphanet:550/ntbt", source="Orphanet:550"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053872 {source="ORDO:550/e", source="Orphanet:550"} -xref: MESH:D017241 {source="DOID:3687", source="MONDO:equivalentTo", source="ORDO:550/e", source="Orphanet:550"} +xref: MedDRA:10053872 {source="Orphanet:550/e", source="Orphanet:550"} +xref: MESH:D017241 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="Orphanet:550"} xref: NCIT:C84885 {source="DOID:3687", source="MONDO:equivalentTo"} -xref: OMIM:540000 {source="DOID:3687", source="MONDO:equivalentTo", source="ORDO:550/e", source="Orphanet:550"} +xref: OMIM:540000 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="Orphanet:550"} xref: Orphanet:550 {source="MONDO:equivalentTo", source="OMIM:540000"} xref: SCTID:240097009 {source="DOID:3687"} xref: SCTID:39925003 {source="DOID:3687", source="MONDO:equivalentTo"} -xref: UMLS:C0162671 {source="DOID:3687", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:540000", source="ORDO:550/e", source="Orphanet:550", source="NCIT:C84885"} +xref: UMLS:C0162671 {source="Orphanet:550/e", source="DOID:3687", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:540000", source="Orphanet:550", source="NCIT:C84885"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84885", source="indirect"} ! syndromic disease is_a: MONDO:0004675 {source="DOID:3687", source="MESH:D017241"} ! mitochondrial encephalomyopathy is_a: MONDO:0019058 {source="Orphanet:550"} ! neurometabolic disease @@ -211141,17 +211102,17 @@ synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144] xref: DOID:310 {source="MONDO:equivalentTo"} xref: GARD:0007144 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:E88.42 {source="MONDO:equivalentTo", source="DOID:310"} -xref: ICD10CM:G71.3 {source="ORDO:551/attributed", source="ORDO:551/ntbt", source="Orphanet:551"} +xref: ICD10CM:G71.3 {source="Orphanet:551/attributed", source="Orphanet:551/ntbt", source="Orphanet:551"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069825 {source="ORDO:551/e", source="Orphanet:551"} -xref: MESH:D017243 {source="MONDO:equivalentTo", source="ORDO:551/e", source="DOID:310", source="Orphanet:551"} +xref: MedDRA:10069825 {source="Orphanet:551/e", source="Orphanet:551"} +xref: MESH:D017243 {source="Orphanet:551/e", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"} xref: NCIT:C84889 {source="MONDO:equivalentTo", source="DOID:310"} -xref: OMIM:545000 {source="MONDO:equivalentTo", source="ORDO:551/e", source="DOID:310", source="Orphanet:551"} +xref: OMIM:545000 {source="Orphanet:551/e", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"} xref: Orphanet:551 {source="OMIM:545000", source="MONDO:equivalentTo"} xref: SCTID:230426003 {source="DOID:310"} xref: SCTID:57254004 {source="DOID:310"} xref: SCTID:68448003 {source="MONDO:equivalentTo", source="DOID:310"} -xref: UMLS:C0162672 {source="OMIM:545000", source="NCIT:C84889", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:551/e", source="DOID:310", source="Orphanet:551"} +xref: UMLS:C0162672 {source="OMIM:545000", source="NCIT:C84889", source="Orphanet:551/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"} is_a: MONDO:0002254 {source="NCIT:C84889"} ! syndromic disease is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0004675 {source="DOID:310", source="MESH:D017243"} ! mitochondrial encephalomyopathy @@ -211176,7 +211137,7 @@ xref: OMIM:550500 {source="MONDO:equivalentTo"} xref: Orphanet:99845 {source="MONDO:subClassOf", source="OMIM:550500"} xref: UMLS:C1838877 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:550500"} is_a: MONDO:0000866 {source="DC-OMIM:550500", source="MESH:C564018"} ! myoglobinuria -is_a: MONDO:0020504 {source="ORDO:99845/btnt"} ! genetic recurrent myoglobinuria +is_a: MONDO:0020504 {source="Orphanet:99845/btnt"} ! genetic recurrent myoglobinuria property_value: confidence "29.33333333333344" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent xsd:anyURI {source="GARD:0003879"} @@ -211189,9 +211150,9 @@ synonym: "lethal infantile mitochondrial disease" EXACT [Orphanet:254857] synonym: "LIMD" EXACT ABBREVIATION [Orphanet:254857] synonym: "LIMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:551000, Orphanet:254857] synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000] -xref: ICD10CM:G71.3 {source="ORDO:254857/attributed", source="ORDO:254857/ntbt", source="Orphanet:254857"} +xref: ICD10CM:G71.3 {source="Orphanet:254857", source="Orphanet:254857/attributed", source="Orphanet:254857/ntbt"} xref: MESH:C564017 {source="MONDO:equivalentTo"} -xref: OMIM:551000 {source="MONDO:equivalentTo", source="Orphanet:254857", source="ORDO:254857/e"} +xref: OMIM:551000 {source="Orphanet:254857/e", source="MONDO:equivalentTo", source="Orphanet:254857"} xref: Orphanet:254857 {source="MONDO:equivalentTo", source="OMIM:551000"} xref: SCTID:766251006 {source="MONDO:equivalentTo"} xref: UMLS:C1838876 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:551000", source="Orphanet:254857"} @@ -211222,12 +211183,12 @@ synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [OMIM:551500] synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644] xref: DOID:0111273 {source="MONDO:equivalentTo"} xref: GARD:0000262 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G31.8 {source="Orphanet:644", source="ORDO:644/attributed", source="ORDO:644/ntbt"} -xref: MedDRA:10062940 {source="Orphanet:644", source="ORDO:644/e"} +xref: ICD10CM:G31.8 {source="Orphanet:644/attributed", source="Orphanet:644/ntbt", source="Orphanet:644"} +xref: MedDRA:10062940 {source="Orphanet:644", source="Orphanet:644/e"} xref: MESH:C537396 {source="MONDO:equivalentTo"} -xref: OMIM:551500 {source="Orphanet:644", source="MONDO:equivalentTo", source="ORDO:644/e"} +xref: OMIM:551500 {source="Orphanet:644", source="MONDO:equivalentTo", source="Orphanet:644/e"} xref: Orphanet:644 {source="MONDO:equivalentTo", source="OMIM:551500"} -xref: UMLS:C1328349 {source="Orphanet:644", source="MONDO:equivalentTo", source="OMIM:551500", source="ORDO:644/e"} +xref: UMLS:C1328349 {source="Orphanet:644", source="MONDO:equivalentTo", source="Orphanet:644/e", source="OMIM:551500"} xref: UMLS:C1838914 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -211275,14 +211236,14 @@ synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancr synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343] xref: DOID:0060067 {source="MONDO:equivalentTo"} xref: GARD:0007343 {source="MONDO:equivalentTo"} -xref: ICD10CM:D64.0 {source="Orphanet:699", source="ORDO:699/attributed", source="ORDO:699/ntbt"} +xref: ICD10CM:D64.0 {source="Orphanet:699/attributed", source="Orphanet:699/ntbt", source="Orphanet:699"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062941 {source="Orphanet:699", source="ORDO:699/e"} +xref: MedDRA:10062941 {source="Orphanet:699", source="Orphanet:699/e"} xref: NCIT:C115326 {source="MONDO:equivalentTo"} -xref: OMIM:557000 {source="DOID:0060067", source="Orphanet:699", source="MONDO:equivalentTo", source="ORDO:699/e"} +xref: OMIM:557000 {source="DOID:0060067", source="Orphanet:699", source="MONDO:equivalentTo", source="Orphanet:699/e"} xref: Orphanet:699 {source="OMIM:557000", source="MONDO:equivalentTo"} xref: SCTID:237985009 {source="MONDO:equivalentTo"} -xref: UMLS:C0342773 {source="Orphanet:699", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:699/e"} +xref: UMLS:C0342773 {source="Orphanet:699", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:699/e"} xref: UMLS:C0342784 {source="OMIM:557000", source="Orphanet:699", source="MONDO:equivalentTo", source="NCIT:C115326"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C115326", source="indirect"} ! syndromic disease relationship: disease_has_feature HP:0001924 ! Sideroblastic anemia @@ -211303,9 +211264,9 @@ synonym: "proximal tubulopathy, diabetes mellitus and cerebellar ataxia" RELATED synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" RELATED [OMIM:560000] synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" RELATED [GARD:0004532] xref: GARD:0004532 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3390/attributed", source="ORDO:3390/ntbt", source="Orphanet:3390"} +xref: ICD10CM:Q87.8 {source="Orphanet:3390", source="Orphanet:3390/attributed", source="Orphanet:3390/ntbt"} xref: MESH:C564014 {source="MONDO:equivalentTo"} -xref: OMIM:560000 {source="MONDO:equivalentTo", source="Orphanet:3390", source="ORDO:3390/e"} +xref: OMIM:560000 {source="MONDO:equivalentTo", source="Orphanet:3390", source="Orphanet:3390/e"} xref: Orphanet:3390 {source="MONDO:equivalentTo", source="OMIM:560000"} xref: UMLS:C3151959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:560000"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -211332,7 +211293,7 @@ synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibi synonym: "streptomycin ototoxicity" EXACT [OMIM:580000] xref: DOID:0111734 {source="MONDO:equivalentTo"} xref: MESH:C564013 {source="MONDO:equivalentTo"} -xref: OMIM:580000 {source="MONDO:equivalentTo", source="ORDO:168609/e", source="Orphanet:168609"} +xref: OMIM:580000 {source="Orphanet:168609/e", source="MONDO:equivalentTo", source="Orphanet:168609"} xref: Orphanet:168609 {source="MONDO:equivalentTo", source="OMIM:580000"} xref: UMLS:C1838854 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:580000"} is_a: MONDO:0016298 {source="Orphanet:168609"} ! postlingual non-syndromic genetic hearing loss @@ -211366,12 +211327,12 @@ synonym: "camptodactyly with cervical platyspondyly" RELATED [OMIM:600000] synonym: "spondylo camptodactyly syndrome" RELATED [GARD:0004972] synonym: "spondylocamptodactyly" RELATED [OMIM:600000] xref: GARD:0004972 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="ORDO:3180/attributed", source="ORDO:3180/ntbt", source="Orphanet:3180"} -xref: MESH:C535779 {source="MONDO:equivalentTo", source="ORDO:3180/e", source="Orphanet:3180"} -xref: OMIM:600000 {source="MONDO:equivalentTo", source="ORDO:3180/e", source="Orphanet:3180"} +xref: ICD10CM:Q77.8 {source="Orphanet:3180", source="Orphanet:3180/attributed", source="Orphanet:3180/ntbt"} +xref: MESH:C535779 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} +xref: OMIM:600000 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} xref: Orphanet:3180 {source="OMIM:600000", source="MONDO:equivalentTo"} xref: SCTID:716231009 {source="MONDO:equivalentTo"} -xref: UMLS:C1838781 {source="OMIM:600000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3180/e", source="Orphanet:3180"} +xref: UMLS:C1838781 {source="OMIM:600000", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"} xref: UMLS:C4274762 {source="MONDO:equivalentTo"} is_a: MONDO:0019694 {source="Orphanet:3180"} ! spondylodysplastic dysplasia property_value: confidence "7.125" xsd:double @@ -211392,13 +211353,13 @@ synonym: "Yorifuji Okuno syndrome" RELATED [GARD:0000347] synonym: "Yorifuji-Okuno syndrome" EXACT [Orphanet:2255] xref: DOID:0111733 {source="MONDO:equivalentTo"} xref: GARD:0000347 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2255", source="ORDO:2255/attributed", source="ORDO:2255/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2255/attributed", source="Orphanet:2255/ntbt", source="Orphanet:2255"} xref: MESH:C564011 {source="MONDO:equivalentTo"} -xref: OMIM:600001 {source="ORDO:2255/e", source="Orphanet:2255", source="MONDO:equivalentTo"} +xref: OMIM:600001 {source="Orphanet:2255", source="MONDO:equivalentTo", source="Orphanet:2255/e"} xref: Orphanet:2255 {source="OMIM:600001", source="MONDO:equivalentTo"} xref: SCTID:722206009 {source="MONDO:equivalentTo"} xref: UMLS:C1838780 {source="OMIM:600001", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931296 {source="ORDO:2255/e", source="Orphanet:2255", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931296 {source="Orphanet:2255", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2255/e"} is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="Orphanet:2255"} ! diabetes mellitus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4174 {source="mim2gene_medgen"} ! GATA6 relationship: has_modifier MONDO:0021136 {source="MONDO:0015967"} ! rare @@ -211416,7 +211377,7 @@ synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002] synonym: "Eiken syndrome" EXACT [OMIM:600002] xref: DOID:0111732 {source="MONDO:equivalentTo"} xref: MESH:C564010 {source="MONDO:equivalentTo"} -xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="ORDO:79106/e"} +xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="Orphanet:79106/e"} xref: Orphanet:79106 {source="OMIM:600002", source="MONDO:equivalentTo"} xref: SCTID:720863002 {source="MONDO:equivalentTo"} xref: UMLS:C1838779 {source="Orphanet:79106", source="OMIM:600002", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -211456,15 +211417,15 @@ synonym: "exstrophy of the bladder" RELATED [GARD:0006398] xref: DOID:0080174 {source="MONDO:equivalentTo"} xref: GARD:0006398 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0002836 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q64.1 {source="DOID:0080174", source="ORDO:93930/specific", source="ORDO:93930/e", source="Orphanet:93930"} +xref: ICD10CM:Q64.1 {source="DOID:0080174", source="Orphanet:93930/specific", source="Orphanet:93930", source="Orphanet:93930/e"} xref: ICD9:753.5 {source="DOID:0080174", source="MONDO:equivalentTo", source="i2s"} -xref: MESH:D001746 {source="ORDO:93930/e", source="Orphanet:93930"} +xref: MESH:D001746 {source="Orphanet:93930", source="Orphanet:93930/e"} xref: NCIT:C123207 {source="MONDO:equivalentTo"} -xref: OMIM:600057 {source="DOID:0080174", source="ORDO:93930/ntbt", source="Orphanet:93930", source="MONDO:directSiblingOf"} +xref: OMIM:600057 {source="DOID:0080174", source="Orphanet:93930", source="Orphanet:93930/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:322 {source="MONDO:subClassOf", source="OMIM:600057"} xref: Orphanet:93930 {source="DOID:0080174", source="OMIM:600057", source="MONDO:equivalentTo"} xref: SCTID:61758007 {source="MONDO:equivalentTo"} -xref: UMLS:C0005689 {source="OMIM:600057", source="ORDO:93930/e", source="MONDO:equivalentTo", source="Orphanet:93930", source="NCIT:C123207"} +xref: UMLS:C0005689 {source="OMIM:600057", source="MONDO:equivalentTo", source="Orphanet:93930", source="NCIT:C123207", source="Orphanet:93930/e"} xref: UMLS:C1838703 {source="MONDO:subClassOf", source="OMIM:600057", source="NCBI:mim2gene_medline"} is_a: MONDO:0017919 {source="DOID:0080174", source="Orphanet:93930"} ! exstrophy-epispadias complex property_value: confidence "0.579520697167756" xsd:double @@ -211502,8 +211463,7 @@ synonym: "autosomal recessive deafness 2" NARROW [DOID:0110477] synonym: "autosomal recessive nonsyndromic deafness 2" NARROW [OMIM:600060] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 2" NARROW [DOID:0110477, MONDORULE:1] -synonym: "deafness, autosomal recessive 2" NARROW [MONDO:Lexical, OMIM:600060] -synonym: "deafness, autosomal recessive 2" NARROW [OMIM:600060, OMIM:genemap2] +synonym: "deafness, autosomal recessive 2" NARROW [MONDO:Lexical, OMIM:600060, OMIM:genemap2] synonym: "deafness, autosomal recessive type 2" NARROW [MONDORULE:1, OMIM:600060] synonym: "DFNB2" NARROW ABBREVIATION [DOID:0110477, MONDO:Lexical, OMIM:600060] synonym: "MYO7A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -211534,16 +211494,16 @@ synonym: "Insomnia familial fatal" RELATED [GARD:0006429] synonym: "Insomnia, fatal familial" RELATED [OMIM:600072] xref: DOID:0050433 {source="MONDO:equivalentTo"} xref: GARD:0006429 {source="MONDO:equivalentTo"} -xref: ICD10CM:A81.8 {source="Orphanet:466", source="ORDO:466/attributed", source="ORDO:466/ntbt"} +xref: ICD10CM:A81.8 {source="Orphanet:466", source="Orphanet:466/attributed", source="Orphanet:466/ntbt"} xref: ICD10CM:A81.83 {source="DOID:0050433", source="MONDO:equivalentTo"} xref: ICD9:046.72 {source="DOID:0050433"} -xref: MedDRA:10072077 {source="Orphanet:466", source="ORDO:466/e"} -xref: MESH:D034062 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="ORDO:466/e"} +xref: MedDRA:10072077 {source="Orphanet:466", source="Orphanet:466/e"} +xref: MESH:D034062 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="Orphanet:466/e"} xref: NCIT:C84711 {source="DOID:0050433", source="MONDO:equivalentTo"} -xref: OMIM:600072 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="ORDO:466/e"} +xref: OMIM:600072 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="Orphanet:466/e"} xref: Orphanet:466 {source="MONDO:equivalentTo", source="OMIM:600072"} xref: SCTID:83157008 {source="DOID:0050433", source="MONDO:equivalentTo"} -xref: UMLS:C0206042 {source="NCIT:C84711", source="Orphanet:466", source="DOID:0050433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:466/e", source="OMIM:600072"} +xref: UMLS:C0206042 {source="NCIT:C84711", source="Orphanet:466", source="DOID:0050433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:466/e", source="OMIM:600072"} is_a: MONDO:0005429 {source="DOID:0050433", source="MESH:D034062", source="MONDO:Redundant", source="indirect"} ! prion disease is_a: MONDO:0013600 {source="MESH:D034062", source="NCIT:C84711", source="linkedlifedata"} ! insomnia is_a: MONDO:0017234 {source="Orphanet:466"} ! inherited prion disease @@ -211587,7 +211547,7 @@ xref: NCIT:C131074 {source="MONDO:equivalentTo"} xref: OMIM:600081 {source="MONDO:equivalentTo"} xref: Orphanet:289157 {source="MONDO:subClassOf", source="OMIM:600081"} xref: UMLS:C1838657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131074", source="OMIM:600081"} -is_a: MONDO:0009924 {source="MONDO:Redundant", source="ORDO:289157/btnt"} ! vitamin D-dependent rickets, type 1 +is_a: MONDO:0009924 {source="MONDO:Redundant", source="Orphanet:289157/btnt"} ! vitamin D-dependent rickets, type 1 intersection_of: MONDO:0009924 ! vitamin D-dependent rickets, type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20580 ! CYP2R1 relationship: disease_has_basis_in_disruption_of GO:0030343 ! vitamin D3 25-hydroxylase activity @@ -211661,12 +211621,12 @@ synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:006 synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [OMIM:600092, Orphanet:1422] synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, Orphanet:1422] xref: DOID:0060644 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:1422", source="DOID:0060644", source="ORDO:1422/attributed", source="ORDO:1422/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:1422/attributed", source="Orphanet:1422/ntbt", source="Orphanet:1422", source="DOID:0060644"} xref: MESH:C536123 {source="MONDO:equivalentTo"} -xref: OMIM:600092 {source="Orphanet:1422", source="ORDO:1422/e", source="DOID:0060644", source="MONDO:equivalentTo"} +xref: OMIM:600092 {source="Orphanet:1422", source="DOID:0060644", source="MONDO:equivalentTo", source="Orphanet:1422/e"} xref: Orphanet:1422 {source="DOID:0060644", source="MONDO:equivalentTo", source="OMIM:600092"} xref: SCTID:720851007 {source="MONDO:equivalentTo"} -xref: UMLS:C1838654 {source="Orphanet:1422", source="NCBI:mim2gene_medline", source="ORDO:1422/e", source="DOID:0060644", source="MONDO:equivalentTo", source="OMIM:600092"} +xref: UMLS:C1838654 {source="Orphanet:1422", source="NCBI:mim2gene_medline", source="DOID:0060644", source="MONDO:equivalentTo", source="Orphanet:1422/e", source="OMIM:600092"} is_a: MONDO:0002254 {source="DOID:0060644"} ! syndromic disease is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development @@ -211701,13 +211661,13 @@ synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371] synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740] xref: DOID:0050740 {source="MONDO:equivalentTo"} xref: GARD:0000371 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3010/attributed", source="ORDO:3010/ntbt", source="Orphanet:3010"} -xref: MESH:C536259 {source="MONDO:equivalentTo", source="ORDO:3010/e", source="Orphanet:3010"} -xref: OMIM:600096 {source="DOID:0050740", source="MONDO:equivalentTo", source="ORDO:3010/e", source="Orphanet:3010"} +xref: ICD10CM:Q87.8 {source="Orphanet:3010/attributed", source="Orphanet:3010/ntbt", source="Orphanet:3010"} +xref: MESH:C536259 {source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"} +xref: OMIM:600096 {source="DOID:0050740", source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"} xref: Orphanet:3010 {source="MONDO:equivalentTo", source="OMIM:600096"} xref: SCTID:721887007 {source="MONDO:equivalentTo"} xref: UMLS:C1838651 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931142 {source="MONDO:equivalentTo", source="ORDO:3010/e", source="OMIM:600096", source="Orphanet:3010"} +xref: UMLS:C2931142 {source="Orphanet:3010/e", source="MONDO:equivalentTo", source="OMIM:600096", source="Orphanet:3010"} is_a: MONDO:0000508 {source="Orphanet:3010"} ! syndromic intellectual disability relationship: disease_has_feature HP:0001252 ! Hypotonia relationship: disease_has_feature HP:0005832 ! Dysharmonic delayed bone age @@ -211811,7 +211771,7 @@ xref: OMIM:600116 {source="MONDO:equivalentTo", source="DOID:0060368"} xref: Orphanet:2828 {source="MONDO:subClassOf", source="OMIM:600116"} xref: UMLS:C1868675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600116"} is_a: MONDO:0005180 {source="DOID:0060368/inferred", source="MONDO:Redundant", source="OMIM:600116", source="indirect"} ! Parkinson disease -is_a: MONDO:0017279 {source="MONDO:Redundant", source="ORDO:2828/btnt"} ! young-onset Parkinson disease +is_a: MONDO:0017279 {source="MONDO:Redundant", source="Orphanet:2828/btnt"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8607 ! PRKN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8607 {source="mim2gene_medgen"} ! PRKN @@ -211831,9 +211791,9 @@ synonym: "dysphasia, familial developmental" RELATED [OMIM:600117] synonym: "FOXP2-associated dysphasia" EXACT [Orphanet:1799] synonym: "specific language impairment" RELATED [GARD:0001823] xref: GARD:0001823 {source="MONDO:equivalentTo"} -xref: ICD10CM:F80.1 {source="MONDO:relatedTo", source="ORDO:1799/ntbt", source="Orphanet:1799"} +xref: ICD10CM:F80.1 {source="MONDO:relatedTo", source="Orphanet:1799", source="Orphanet:1799/ntbt"} xref: MESH:C563997 {source="MONDO:equivalentTo"} -xref: OMIM:600117 {source="MONDO:equivalentTo", source="ORDO:1799/e", source="Orphanet:1799"} +xref: OMIM:600117 {source="MONDO:equivalentTo", source="Orphanet:1799", source="Orphanet:1799/e"} xref: Orphanet:1799 {source="MONDO:equivalentTo", source="GARD:0001823", source="OMIM:600117"} xref: SCTID:721220004 {source="MONDO:equivalentTo"} xref: UMLS:C1838630 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0001823", source="OMIM:600117", source="Orphanet:1799"} @@ -211882,12 +211842,12 @@ synonym: "rhizomelic chondrodysplasia punctata type 3" EXACT CLINGEN_PREFERRED [ synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121] xref: DOID:0110853 {source="MONDO:equivalentTo"} xref: GARD:0009682 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="DOID:0110853", source="MONDO:subClassOf", source="Orphanet:309803", source="ORDO:309803/attributed", source="ORDO:309803/ntbt"} +xref: ICD10CM:Q77.3 {source="DOID:0110853", source="MONDO:subClassOf", source="Orphanet:309803", source="Orphanet:309803/attributed", source="Orphanet:309803/ntbt"} xref: MESH:C537608 {source="MONDO:equivalentTo"} -xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="ORDO:309803/e", source="MONDO:equivalentTo"} +xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="MONDO:equivalentTo", source="Orphanet:309803/e"} xref: Orphanet:177 {source="MONDO:subClassOf", source="OMIM:600121"} xref: Orphanet:309803 {source="DOID:0110853", source="OMIM:600121", source="MONDO:equivalentTo"} -xref: UMLS:C1838612 {source="OMIM:600121", source="Orphanet:309803", source="ORDO:309803/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1838612 {source="OMIM:600121", source="Orphanet:309803", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:309803/e"} is_a: MONDO:0015776 {source="DC-OMIM:600121", source="DOID:0110853", source="MESH:C537608", source="MONDO:Redundant", source="OMIM:600121", source="Orphanet:309803"} ! rhizomelic chondrodysplasia punctata is_a: MONDO:0100274 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! alkylglycerone-phosphate synthase deficiency intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata @@ -211911,9 +211871,9 @@ synonym: "Verloes Gillerot Fryns syndrome" RELATED [GARD:0004550] synonym: "Verloes syndrome" RELATED [OMIM:600122] synonym: "Verloes-Gillerot-Fryns syndrome" EXACT [Orphanet:2983] xref: GARD:0004550 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q56.3 {source="Orphanet:2983", source="ORDO:2983/attributed", source="ORDO:2983/ntbt"} +xref: ICD10CM:Q56.3 {source="Orphanet:2983/attributed", source="Orphanet:2983/ntbt", source="Orphanet:2983"} xref: MESH:C535693 {source="MONDO:equivalentTo"} -xref: OMIM:600122 {source="ORDO:2983/e", source="Orphanet:2983", source="MONDO:equivalentTo"} +xref: OMIM:600122 {source="Orphanet:2983", source="MONDO:equivalentTo", source="Orphanet:2983/e"} xref: Orphanet:2983 {source="OMIM:600122", source="MONDO:equivalentTo"} xref: SCTID:719450007 {source="MONDO:equivalentTo"} xref: UMLS:C1838611 {source="OMIM:600122", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -211933,9 +211893,9 @@ def: "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome i subset: ordo_malformation_syndrome {source="Orphanet:1352"} synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [OMIM:600123] synonym: "Houlston-Ironton-Temple syndrome" EXACT [Orphanet:1352] -xref: ICD10CM:Q87.8 {source="Orphanet:1352", source="ORDO:1352/attributed", source="ORDO:1352/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1352", source="Orphanet:1352/attributed", source="Orphanet:1352/ntbt"} xref: MESH:C563994 {source="MONDO:equivalentTo"} -xref: OMIM:600123 {source="Orphanet:1352", source="ORDO:1352/e", source="MONDO:equivalentTo"} +xref: OMIM:600123 {source="Orphanet:1352", source="MONDO:equivalentTo", source="Orphanet:1352/e"} xref: Orphanet:1352 {source="OMIM:600123", source="MONDO:equivalentTo"} xref: UMLS:C1838606 {source="Orphanet:1352", source="OMIM:600123", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -211954,16 +211914,16 @@ synonym: "absence seizure" RELATED [DOID:1825] synonym: "petit mal seizure" RELATED [DOID:1825] synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280] xref: DOID:1825 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="ORDO:64280/ntbt", source="Orphanet:64280", source="ORDO:64280/inclusion"} +xref: ICD10CM:G40.3 {source="Orphanet:64280/inclusion", source="Orphanet:64280", source="Orphanet:64280/ntbt"} xref: ICD10CM:G40.A {source="DOID:1825"} xref: MESH:D004832 {source="DOID:1825"} xref: NCIT:C3023 {source="DOID:1825"} xref: NCIT:C50436 {source="MONDO:otherHierarchy", source="DOID:1825"} -xref: OMIM:600131 {source="MONDO:relatedTo", source="ORDO:64280/e", source="Orphanet:64280"} -xref: OMIM:607681 {source="MONDO:relatedTo", source="ORDO:64280/btnt", source="Orphanet:64280"} -xref: OMIM:611136 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:64280/ntbt", source="Orphanet:64280"} -xref: OMIM:611942 {source="MONDO:relatedTo", source="ORDO:64280/btnt", source="Orphanet:64280"} -xref: OMIM:612269 {source="MONDO:relatedTo", source="ORDO:64280/btnt", source="Orphanet:64280"} +xref: OMIM:600131 {source="MONDO:relatedTo", source="Orphanet:64280", source="Orphanet:64280/e"} +xref: OMIM:607681 {source="MONDO:relatedTo", source="Orphanet:64280", source="Orphanet:64280/btnt"} +xref: OMIM:611136 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:64280", source="Orphanet:64280/ntbt"} +xref: OMIM:611942 {source="MONDO:relatedTo", source="Orphanet:64280", source="Orphanet:64280/btnt"} +xref: OMIM:612269 {source="MONDO:relatedTo", source="Orphanet:64280", source="Orphanet:64280/btnt"} xref: OMIMPS:600131 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:600131", source="MONDO:equivalentTo"} xref: SCTID:140805008 {source="DOID:1825"} @@ -212041,9 +212001,9 @@ synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354] synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142] xref: DOID:13945 {source="MONDO:subClassOf"} xref: GARD:0010424 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:F01.1 {source="Orphanet:199354", source="ORDO:199354/attributed", source="ORDO:199354/ntbt"} +xref: ICD10CM:F01.1 {source="Orphanet:199354", source="Orphanet:199354/attributed", source="Orphanet:199354/ntbt"} xref: MESH:C563990 {source="MONDO:equivalentTo"} -xref: OMIM:600142 {source="Orphanet:199354", source="ORDO:199354/e", source="MONDO:equivalentTo"} +xref: OMIM:600142 {source="Orphanet:199354", source="MONDO:equivalentTo", source="Orphanet:199354/e"} xref: Orphanet:199354 {source="OMIM:600142", source="MONDO:equivalentTo"} xref: SCTID:390723008 {source="DOID:13945"} xref: SCTID:703219008 {source="MONDO:equivalentTo"} @@ -212067,17 +212027,17 @@ synonym: "neuronal ceroid lipofuscinosis 8" EXACT CLINGEN_PREFERRED [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1] xref: DOID:0110723 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:228354/attributed", source="ORDO:228354/ntbt", source="DOID:0110723", source="Orphanet:228354"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110723", source="Orphanet:228354/attributed", source="Orphanet:228354/ntbt", source="Orphanet:228354"} xref: MESH:C537952 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:600143 {source="DOID:0110723", source="MONDO:equivalentTo", source="ORDO:228354/e", source="Orphanet:228354"} +xref: OMIM:600143 {source="DOID:0110723", source="Orphanet:228354/e", source="MONDO:equivalentTo", source="Orphanet:228354"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:600143"} xref: Orphanet:228354 {source="OMIM:600143", source="DOID:0110723", source="MONDO:equivalentTo"} xref: Orphanet:79264 {source="MONDO:subClassOf", source="OMIM:600143"} xref: SCTID:703526007 {source="MONDO:equivalentTo"} xref: UMLS:C1838570 {source="OMIM:600143", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228354"} -is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228354"} ! late infantile neuronal ceroid lipofuscinosis +is_a: MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228354"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0016295 {source="DOID", source="DOID:0110723", source="MONDO:Redundant", source="OMIM:600143", source="Orphanet:228354/inferred", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis -is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228354"} ! juvenile neuronal ceroid lipofuscinosis +is_a: MONDO:0019262 {source="Orphanet:228354", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2079 ! CLN8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2079 {source="mim2gene_medgen"} ! CLN8 @@ -212102,7 +212062,7 @@ synonym: "Sdam" RELATED [OMIM:600145] synonym: "sirenomelia" RELATED [OMIM:600145] xref: GARD:0000215 {source="MONDO:equivalentTo"} xref: GARD:0004751 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1768/attributed", source="ORDO:1768/ntbt", source="Orphanet:1768"} +xref: ICD10CM:Q87.8 {source="Orphanet:1768/attributed", source="Orphanet:1768/ntbt", source="Orphanet:1768"} xref: NCIT:C99054 {source="MONDO:equivalentTo"} xref: OMIM:600145 {source="GARD:0004751", source="MONDO:equivalentTo"} xref: Orphanet:1768 {source="GARD:0004751", source="OMIM:600145", source="GARD:0000215", source="MONDO:equivalentTo"} @@ -212185,12 +212145,12 @@ synonym: "pterygium colli and mental retardation with facial and digital anomali synonym: "pterygium colli intellectual disability digital anomalies" RELATED [GARD:0004568] synonym: "pterygium colli mental retardation digital anomalies" RELATED DEPRECATED [GARD:0004568] xref: GARD:0004568 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:2988/attributed", source="ORDO:2988/ntbt", source="Orphanet:2988"} +xref: ICD10CM:Q87.0 {source="Orphanet:2988", source="Orphanet:2988/attributed", source="Orphanet:2988/ntbt"} xref: MESH:C535831 {source="MONDO:equivalentTo"} -xref: OMIM:600159 {source="MONDO:equivalentTo", source="Orphanet:2988", source="ORDO:2988/e"} +xref: OMIM:600159 {source="MONDO:equivalentTo", source="Orphanet:2988", source="Orphanet:2988/e"} xref: Orphanet:2988 {source="MONDO:equivalentTo", source="OMIM:600159"} xref: SCTID:719256004 {source="MONDO:equivalentTo"} -xref: UMLS:C1838562 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600159", source="Orphanet:2988", source="ORDO:2988/e"} +xref: UMLS:C1838562 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600159", source="Orphanet:2988", source="Orphanet:2988/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2988", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2988"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -212211,7 +212171,7 @@ xref: OMIM:600165 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="MONDO:subClassOf", source="OMIM:600165"} xref: UMLS:C1838502 {source="OMIM:600165", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005514 {source="DC-OMIM:600165"} ! nanophthalmia -is_a: MONDO:0021129 {source="MESH:C563983", source="MONDO:Redundant", source="OMIM:600165", source="ORDO:35612/btnt", source="indirect"} ! microphthalmia +is_a: MONDO:0021129 {source="MESH:C563983", source="MONDO:Redundant", source="OMIM:600165", source="Orphanet:35612/btnt", source="indirect"} ! microphthalmia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.9907692307692297" xsd:double @@ -212268,9 +212228,9 @@ synonym: "neuropathy, distal hereditary motor, type 8" RELATED [OMIM:600175] synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [OMIM:600175] synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [OMIM:600175] xref: DOID:0111215 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:1216/attributed", source="ORDO:1216/ntbt", source="Orphanet:1216"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:1216", source="Orphanet:1216/attributed", source="Orphanet:1216/ntbt"} xref: MESH:C563981 {source="MONDO:equivalentTo"} -xref: OMIM:600175 {source="MONDO:equivalentTo", source="ORDO:1216/e", source="Orphanet:1216"} +xref: OMIM:600175 {source="MONDO:equivalentTo", source="Orphanet:1216", source="Orphanet:1216/e"} xref: Orphanet:1216 {source="OMIM:600175", source="MONDO:equivalentTo"} xref: SCTID:763067000 {source="MONDO:equivalentTo"} xref: UMLS:C1838492 {source="OMIM:600175", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -212292,12 +212252,12 @@ synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" REL synonym: "pachygyria, intellectual disability and epilepsy" RELATED [GARD:0000409] synonym: "pachygyria, mental retardation and epilepsy" RELATED DEPRECATED [GARD:0000409] xref: GARD:0000409 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.4 {source="ORDO:2798/attributed", source="ORDO:2798/ntbt", source="Orphanet:2798"} +xref: ICD10CM:G40.4 {source="Orphanet:2798", source="Orphanet:2798/attributed", source="Orphanet:2798/ntbt"} xref: MESH:C538091 {source="MONDO:equivalentTo"} -xref: OMIM:600176 {source="ORDO:2798/e", source="MONDO:equivalentTo", source="Orphanet:2798"} +xref: OMIM:600176 {source="MONDO:equivalentTo", source="Orphanet:2798", source="Orphanet:2798/e"} xref: Orphanet:2798 {source="OMIM:600176", source="MONDO:equivalentTo"} xref: SCTID:763861000 {source="MONDO:equivalentTo"} -xref: UMLS:C1838491 {source="OMIM:600176", source="ORDO:2798/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2798"} +xref: UMLS:C1838491 {source="OMIM:600176", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2798", source="Orphanet:2798/e"} is_a: MONDO:0000508 {source="Orphanet:2798"} ! syndromic intellectual disability is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -212333,9 +212293,9 @@ synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:L synonym: "VMCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600195, Orphanet:2451] synonym: "Vmcm1" RELATED [OMIM:600195] xref: DOID:0050792 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q27.8 {source="Orphanet:2451", source="ORDO:2451/attributed", source="ORDO:2451/ntbt"} +xref: ICD10CM:Q27.8 {source="Orphanet:2451", source="Orphanet:2451/attributed", source="Orphanet:2451/ntbt"} xref: MESH:C563977 {source="MONDO:equivalentTo"} -xref: OMIM:600195 {source="DOID:0050792", source="Orphanet:2451", source="MONDO:equivalentTo", source="ORDO:2451/e"} +xref: OMIM:600195 {source="DOID:0050792", source="Orphanet:2451", source="MONDO:equivalentTo", source="Orphanet:2451/e"} xref: Orphanet:2451 {source="MONDO:equivalentTo", source="OMIM:600195"} xref: SCTID:699301008 {source="MONDO:equivalentTo"} xref: UMLS:C1838437 {source="Orphanet:2451", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:600195"} @@ -212383,7 +212343,7 @@ xref: MESH:C535502 {source="MONDO:equivalentTo"} xref: OMIM:600204 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="MONDO:subClassOf", source="OMIM:600204"} xref: UMLS:C1838429 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600204"} -is_a: MONDO:0015627 {source="ORDO:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly +is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600204", source="indirect"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2218 ! COL9A2 @@ -212423,11 +212383,11 @@ synonym: "spinocerebellar ataxia autosomal dominant with sensory axonal neuropat synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:600223] xref: DOID:0050957 {source="MONDO:equivalentTo"} xref: GARD:0009970 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:98765", source="ORDO:98765/attributed", source="ORDO:98765/ntbt"} -xref: OMIM:600223 {source="ORDO:98765/e", source="Orphanet:98765", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.2 {source="Orphanet:98765", source="Orphanet:98765/attributed", source="Orphanet:98765/ntbt"} +xref: OMIM:600223 {source="Orphanet:98765", source="MONDO:equivalentTo", source="Orphanet:98765/e"} xref: Orphanet:98765 {source="OMIM:600223", source="MONDO:equivalentTo"} xref: SCTID:715755008 {source="MONDO:equivalentTo"} -xref: UMLS:C0752122 {source="ORDO:98765/e", source="Orphanet:98765", source="NCBI:mim2gene_medline", source="OMIM:600223", source="MONDO:equivalentTo"} +xref: UMLS:C0752122 {source="Orphanet:98765", source="NCBI:mim2gene_medline", source="OMIM:600223", source="MONDO:equivalentTo", source="Orphanet:98765/e"} is_a: MONDO:0019792 {source="Orphanet:98765"} ! autosomal dominant cerebellar ataxia type I property_value: confidence "3.7222222222222223" xsd:double @@ -212441,8 +212401,8 @@ synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical, OMIM:600224] synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224] xref: DOID:0050882 {source="MONDO:equivalentTo"} xref: GARD:0004953 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:98766", source="ORDO:98766/attributed", source="ORDO:98766/ntbt"} -xref: OMIM:600224 {source="ORDO:98766/e", source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.2 {source="Orphanet:98766/attributed", source="Orphanet:98766/ntbt", source="Orphanet:98766"} +xref: OMIM:600224 {source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo", source="Orphanet:98766/e"} xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"} xref: SCTID:719302009 {source="MONDO:equivalentTo"} xref: UMLS:C0752123 {source="OMIM:600224", source="NCBI:mim2gene_medline", source="Orphanet:98766", source="MONDO:equivalentTo"} @@ -212472,8 +212432,8 @@ synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251] synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251] synonym: "OBLFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600251] synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251] -xref: ICD10CM:Q18.8 {source="ORDO:141258/attributed", source="ORDO:141258/ntbt", source="Orphanet:141258"} -xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="ORDO:141258/e"} +xref: ICD10CM:Q18.8 {source="Orphanet:141258", source="Orphanet:141258/attributed", source="Orphanet:141258/ntbt"} +xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="Orphanet:141258/e"} xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"} xref: UMLS:C1838348 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:600251"} is_a: MONDO:0015415 {source="Orphanet:141258"} ! oblique facial cleft @@ -212491,12 +212451,12 @@ synonym: "Lowry MacLean syndrome" RELATED [GARD:0003300] synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252] synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED DEPRECATED [GARD:0003300] xref: GARD:0003300 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2409", source="ORDO:2409/attributed", source="ORDO:2409/ntbt"} -xref: MESH:C537037 {source="MONDO:equivalentTo", source="Orphanet:2409", source="ORDO:2409/e"} -xref: OMIM:600252 {source="MONDO:equivalentTo", source="Orphanet:2409", source="ORDO:2409/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2409/attributed", source="Orphanet:2409/ntbt", source="Orphanet:2409"} +xref: MESH:C537037 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} +xref: OMIM:600252 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} xref: Orphanet:2409 {source="OMIM:600252", source="MONDO:equivalentTo"} xref: SCTID:721974000 {source="MONDO:equivalentTo"} -xref: UMLS:C0796020 {source="OMIM:600252", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2409", source="ORDO:2409/e"} +xref: UMLS:C0796020 {source="OMIM:600252", source="Orphanet:2409/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2409"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2409", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015159 {source="Orphanet:2409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -212547,7 +212507,7 @@ synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366] xref: DOID:0111705 {source="MONDO:equivalentTo"} xref: GARD:0010366 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C563969 {source="MONDO:equivalentTo"} -xref: OMIM:600268 {source="MONDO:equivalentTo", source="ORDO:3339/e", source="Orphanet:3339"} +xref: OMIM:600268 {source="MONDO:equivalentTo", source="Orphanet:3339", source="Orphanet:3339/e"} xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"} xref: SCTID:723554006 {source="MONDO:equivalentTo"} xref: UMLS:C1838329 {source="OMIM:600268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3339"} @@ -212566,9 +212526,9 @@ synonym: "short tarsus absence of lower eyelashes" RELATED [GARD:0000296] synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical, OMIM:600269] synonym: "stale" RELATED [MONDO:Lexical, OMIM:600269] xref: GARD:0000296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2832/attributed", source="ORDO:2832/ntbt", source="Orphanet:2832"} +xref: ICD10CM:Q87.2 {source="Orphanet:2832", source="Orphanet:2832/attributed", source="Orphanet:2832/ntbt"} xref: MESH:C537036 {source="MONDO:equivalentTo"} -xref: OMIM:600269 {source="MONDO:equivalentTo", source="Orphanet:2832", source="ORDO:2832/e"} +xref: OMIM:600269 {source="MONDO:equivalentTo", source="Orphanet:2832", source="Orphanet:2832/e"} xref: Orphanet:2832 {source="MONDO:equivalentTo", source="OMIM:600269"} xref: SCTID:721075001 {source="MONDO:equivalentTo"} xref: UMLS:C1838328 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2832", source="OMIM:600269"} @@ -212591,7 +212551,7 @@ synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924] xref: GARD:0009481 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C536328 {source="MONDO:equivalentTo"} -xref: OMIM:600273 {source="ORDO:88924/e", source="MONDO:equivalentTo", source="Orphanet:88924"} +xref: OMIM:600273 {source="MONDO:equivalentTo", source="Orphanet:88924", source="Orphanet:88924/e"} xref: Orphanet:88924 {source="MONDO:equivalentTo", source="OMIM:600273"} xref: SCTID:765331004 {source="MONDO:equivalentTo"} xref: UMLS:C1838327 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88924", source="OMIM:600273"} @@ -212622,12 +212582,12 @@ synonym: "semantic primary progressive aphasia" EXACT [Orphanet:100069] synonym: "semantic variant PPA" EXACT [Orphanet:100069] synonym: "Wilhelmsen-Lynch disease" RELATED [OMIM:600274] xref: GARD:0010792 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G31.0 {source="Orphanet:100069", source="ORDO:100069/attributed", source="ORDO:100069/ntbt"} +xref: ICD10CM:G31.0 {source="Orphanet:100069/attributed", source="Orphanet:100069/ntbt", source="Orphanet:100069"} xref: OMIM:600274 {source="Orphanet:100069", source="MONDO:equivalentTo"} xref: Orphanet:100069 {source="MONDO:equivalentTo"} xref: Orphanet:282 {source="MONDO:subClassOf", source="OMIM:600274"} xref: UMLS:C0338451 {source="MONDO:subClassOf", source="OMIM:600274", source="NCBI:mim2gene_medline"} -xref: UMLS:C0338462 {source="ORDO:100069/e", source="Orphanet:100069", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0338462 {source="Orphanet:100069", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100069/e"} xref: UMLS:C1838313 {source="OMIM:600274", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1862937 {source="OMIM:600274", source="MONDO:relatedTo"} is_a: MONDO:0015059 ! progressive non-fluent aphasia @@ -212642,9 +212602,9 @@ def: "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of subset: ordo_malformation_syndrome {source="Orphanet:2429"} synonym: "Fryns macrocephaly" EXACT [OMIM:600302, Orphanet:2429] synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [OMIM:600302] -xref: ICD10CM:Q87.8 {source="ORDO:2429/attributed", source="ORDO:2429/ntbt", source="Orphanet:2429"} +xref: ICD10CM:Q87.8 {source="Orphanet:2429", source="Orphanet:2429/attributed", source="Orphanet:2429/ntbt"} xref: MESH:C563963 {source="MONDO:equivalentTo"} -xref: OMIM:600302 {source="MONDO:equivalentTo", source="Orphanet:2429", source="ORDO:2429/e"} +xref: OMIM:600302 {source="Orphanet:2429/e", source="MONDO:equivalentTo", source="Orphanet:2429"} xref: Orphanet:2429 {source="MONDO:equivalentTo", source="OMIM:600302"} xref: SCTID:716108004 {source="MONDO:equivalentTo"} xref: UMLS:C1838281 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600302", source="Orphanet:2429"} @@ -212682,8 +212642,7 @@ synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive de synonym: "autosomal recessive nonsyndromic deafness 3" NARROW CLINGEN_PREFERRED [OMIM:600316] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 3" NARROW [DOID:0110488, MONDORULE:1] -synonym: "deafness, autosomal recessive 3" NARROW [OMIM:600316, OMIM:genemap2] -synonym: "deafness, autosomal recessive 3" NARROW [MONDO:Lexical, OMIM:600316] +synonym: "deafness, autosomal recessive 3" NARROW [MONDO:Lexical, OMIM:600316, OMIM:genemap2] synonym: "deafness, autosomal recessive type 3" NARROW [MONDORULE:1, OMIM:600316] synonym: "DFNB3" NARROW ABBREVIATION [DOID:0110488, MONDO:Lexical, OMIM:600316] synonym: "MYO15A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -212774,9 +212733,9 @@ synonym: "aminopterin syndrome-like sine aminopterin" EXACT [Orphanet:221120] synonym: "ASSA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600325, Orphanet:221120] synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325] xref: GARD:0004544 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="ORDO:221120/attributed", source="ORDO:221120/ntbt"} +xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="Orphanet:221120/attributed", source="Orphanet:221120/ntbt"} xref: MESH:C535823 {source="MONDO:equivalentTo"} -xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="ORDO:221120/e"} +xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="Orphanet:221120/e"} xref: Orphanet:221120 {source="MONDO:equivalentTo", source="OMIM:600325"} xref: SCTID:715867000 {source="MONDO:equivalentTo"} xref: UMLS:C0795939 {source="Orphanet:221120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600325"} @@ -212794,10 +212753,10 @@ def: "This syndrome is characterized by osteopetrosis, agenesis of the corpus ca subset: ordo_malformation_syndrome {source="Orphanet:85179"} synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:600329] xref: GARD:0010082 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q78.2 {source="Orphanet:85179", source="ORDO:85179/attributed", source="ORDO:85179/ntbt"} +xref: ICD10CM:Q78.2 {source="Orphanet:85179/attributed", source="Orphanet:85179/ntbt", source="Orphanet:85179"} xref: MESH:C536055 {source="MONDO:equivalentTo"} -xref: OMIM:259720 {source="Orphanet:85179", source="MONDO:superClassOf", source="ORDO:85179/e"} -xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="ORDO:85179/e"} +xref: OMIM:259720 {source="Orphanet:85179", source="MONDO:superClassOf", source="Orphanet:85179/e"} +xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="Orphanet:85179/e"} xref: Orphanet:85179 {source="MONDO:equivalentTo", source="OMIM:600329"} xref: SCTID:724226009 {source="MONDO:equivalentTo"} xref: UMLS:C1838258 {source="Orphanet:85179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600329"} @@ -212814,11 +212773,11 @@ synonym: "PARC syndrome" EXACT [OMIM:600331] synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [OMIM:600331] synonym: "poikiloderma-alopecia-retrognathism-cleft palate syndrome" EXACT [Orphanet:2825] xref: GARD:0004223 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2825/attributed", source="ORDO:2825/ntbt", source="Orphanet:2825"} -xref: MESH:C537174 {source="MONDO:equivalentTo", source="Orphanet:2825", source="ORDO:2825/e"} -xref: OMIM:600331 {source="MONDO:equivalentTo", source="Orphanet:2825", source="ORDO:2825/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2825", source="Orphanet:2825/attributed", source="Orphanet:2825/ntbt"} +xref: MESH:C537174 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"} +xref: OMIM:600331 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"} xref: Orphanet:2825 {source="OMIM:600331", source="MONDO:equivalentTo"} -xref: UMLS:C1838256 {source="OMIM:600331", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2825", source="ORDO:2825/e"} +xref: UMLS:C1838256 {source="Orphanet:2825/e", source="OMIM:600331", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2825"} is_a: MONDO:0015161 {source="Orphanet:2825", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2825"} ! orofacial clefting syndrome is_a: MONDO:0043008 {source="Orphanet:2825"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -212867,13 +212826,13 @@ synonym: "Tmd" RELATED [OMIM:600334] synonym: "Udd myopathy" EXACT [DOID:0111078, Orphanet:609] synonym: "Udd type distal myopathy" EXACT [DOID:0111078] xref: DOID:0111078 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:609/attributed", source="ORDO:609/ntbt", source="DOID:0111078", source="Orphanet:609"} -xref: MESH:C536815 {source="ORDO:609/e", source="DOID:0111078", source="Orphanet:609"} -xref: OMIM:600334 {source="MONDO:equivalentTo", source="ORDO:609/e", source="DOID:0111078", source="Orphanet:609"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0111078", source="Orphanet:609", source="Orphanet:609/attributed", source="Orphanet:609/ntbt"} +xref: MESH:C536815 {source="Orphanet:609/e", source="DOID:0111078", source="Orphanet:609"} +xref: OMIM:600334 {source="Orphanet:609/e", source="MONDO:equivalentTo", source="DOID:0111078", source="Orphanet:609"} xref: Orphanet:609 {source="OMIM:600334", source="MONDO:equivalentTo", source="DOID:0111078"} xref: SCTID:698846009 {source="MONDO:equivalentTo"} xref: UMLS:C1450052 {source="MONDO:equivalentTo", source="Orphanet:609"} -xref: UMLS:C1838244 {source="OMIM:600334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:609/e", source="DOID:0111078", source="Orphanet:609"} +xref: UMLS:C1838244 {source="Orphanet:609/e", source="OMIM:600334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0111078", source="Orphanet:609"} is_a: MONDO:0016108 {source="Orphanet:609"} ! autosomal dominant distal myopathy is_a: MONDO:0016191 {source="Orphanet:609"} ! qualitative or quantitative defects of titin is_a: MONDO:0018949 {source="DOID:0111078", source="MONDO:Redundant", source="Orphanet:609/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! distal myopathy @@ -212911,7 +212870,7 @@ xref: MESH:C563950 {source="MONDO:equivalentTo"} xref: OMIM:600348 {source="MONDO:equivalentTo"} xref: Orphanet:99796 {source="MONDO:subClassOf", source="OMIM:600348"} xref: UMLS:C1838239 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600348"} -is_a: MONDO:0020491 {source="ORDO:99796/btnt"} ! subcortical band heterotopia +is_a: MONDO:0020491 {source="Orphanet:99796/btnt"} ! subcortical band heterotopia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3330 {source="mim2gene_medgen"} ! EML1 property_value: confidence "0.7645614035087713" xsd:double @@ -212944,12 +212903,12 @@ synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [OMIM:6 synonym: "congenital absence of skin on the upper or lower limbs" RELATED [GARD:0000754] synonym: "recessive aplasia cutis congenita of the limbs" RELATED [GARD:0000754] xref: GARD:0000754 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.8 {source="ORDO:1115/attributed", source="ORDO:1115/ntbt", source="Orphanet:1115"} -xref: MESH:C536840 {source="ORDO:1115/e", source="MONDO:equivalentTo", source="Orphanet:1115"} -xref: OMIM:600360 {source="ORDO:1115/e", source="MONDO:equivalentTo", source="Orphanet:1115"} +xref: ICD10CM:Q84.8 {source="Orphanet:1115", source="Orphanet:1115/attributed", source="Orphanet:1115/ntbt"} +xref: MESH:C536840 {source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"} +xref: OMIM:600360 {source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"} xref: Orphanet:1115 {source="MONDO:equivalentObsolete", source="OMIM:600360"} xref: SCTID:723500009 {source="MONDO:equivalentTo"} -xref: UMLS:C1838206 {source="ORDO:1115/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1115"} +xref: UMLS:C1838206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"} xref: UMLS:C3275756 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600360"} is_a: MONDO:0019294 {source="Orphanet:1115"} ! mixed dermis disorder property_value: confidence "2.692307692307692" xsd:double @@ -212973,8 +212932,8 @@ synonym: "HMSN5" RELATED ABBREVIATION [OMIM:600361] synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [OMIM:600361] xref: DOID:0080067 {source="MONDO:equivalentTo"} xref: GARD:0009208 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:64751", source="ORDO:64751/attributed", source="ORDO:64751/ntbt"} -xref: OMIM:600361 {source="Orphanet:64751", source="DOID:0080067", source="MONDO:equivalentTo", source="ORDO:64751/e"} +xref: ICD10CM:G60.0 {source="Orphanet:64751", source="Orphanet:64751/attributed", source="Orphanet:64751/ntbt"} +xref: OMIM:600361 {source="Orphanet:64751", source="DOID:0080067", source="MONDO:equivalentTo", source="Orphanet:64751/e"} xref: Orphanet:64751 {source="MONDO:equivalentTo", source="OMIM:600361"} xref: SCTID:76043009 {source="MONDO:equivalentTo"} xref: UMLS:C0037773 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600361"} @@ -213004,12 +212963,12 @@ synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM synonym: "SPG6" EXACT ABBREVIATION [DOID:0110811, MONDO:Lexical, OMIM:600363, Orphanet:100988] xref: DOID:0110811 {source="MONDO:equivalentTo"} xref: GARD:0004928 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110811", source="ORDO:100988/attributed", source="ORDO:100988/ntbt", source="Orphanet:100988"} -xref: MESH:C536866 {source="MONDO:equivalentTo", source="ORDO:100988/e", source="Orphanet:100988"} -xref: OMIM:600363 {source="DOID:0110811", source="MONDO:equivalentTo", source="ORDO:100988/e", source="Orphanet:100988"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110811", source="Orphanet:100988/attributed", source="Orphanet:100988/ntbt", source="Orphanet:100988"} +xref: MESH:C536866 {source="Orphanet:100988/e", source="MONDO:equivalentTo", source="Orphanet:100988"} +xref: OMIM:600363 {source="Orphanet:100988/e", source="DOID:0110811", source="MONDO:equivalentTo", source="Orphanet:100988"} xref: Orphanet:100988 {source="OMIM:600363", source="DOID:0110811", source="MONDO:equivalentTo"} xref: SCTID:732949006 {source="MONDO:equivalentTo"} -xref: UMLS:C1838192 {source="OMIM:600363", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:100988/e", source="Orphanet:100988"} +xref: UMLS:C1838192 {source="OMIM:600363", source="Orphanet:100988/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100988"} xref: UMLS:C4518537 {source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100988"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110811", source="MESH:C536866", source="MONDO:Redundant", source="OMIM:600363", source="Orphanet:100988/inferred"} ! hereditary spastic paraplegia @@ -213031,13 +212990,13 @@ synonym: "cerebrooculodentoauriculoskeletal syndrome" EXACT [Orphanet:1458] synonym: "CODAS syndrome" EXACT [OMIM:600373] xref: DOID:0111274 {source="MONDO:equivalentTo"} xref: GARD:0001418 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1458/attributed", source="ORDO:1458/ntbt", source="Orphanet:1458"} -xref: MESH:C536434 {source="MONDO:equivalentTo", source="ORDO:1458/e", source="Orphanet:1458"} +xref: ICD10CM:Q87.8 {source="Orphanet:1458", source="Orphanet:1458/attributed", source="Orphanet:1458/ntbt"} +xref: MESH:C536434 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"} xref: NCIT:C126744 {source="MONDO:equivalentTo"} -xref: OMIM:600373 {source="MONDO:equivalentTo", source="ORDO:1458/e", source="Orphanet:1458"} +xref: OMIM:600373 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"} xref: Orphanet:1458 {source="OMIM:600373", source="MONDO:equivalentTo"} xref: SCTID:717772000 {source="MONDO:equivalentTo"} -xref: UMLS:C1838180 {source="OMIM:600373", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1458/e", source="Orphanet:1458", source="NCIT:C126744"} +xref: UMLS:C1838180 {source="OMIM:600373", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1458", source="NCIT:C126744", source="Orphanet:1458/e"} is_a: MONDO:0002254 {source="NCIT:C126744"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1458", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:1458"} ! spondyloepiphyseal dysplasia @@ -213093,12 +213052,12 @@ synonym: "mesomelic dysplasia, syndromic" RELATED [OMIM:600383] synonym: "monosomy 8q13" EXACT [Orphanet:2496] synonym: "Verloes-David syndrome" EXACT [Orphanet:2496] xref: GARD:0004302 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="Orphanet:2496", source="ORDO:2496/attributed", source="ORDO:2496/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:2496", source="Orphanet:2496/attributed", source="Orphanet:2496/ntbt"} xref: MESH:C537348 {source="MONDO:equivalentTo"} -xref: OMIM:600383 {source="Orphanet:2496", source="ORDO:2496/e", source="MONDO:equivalentTo"} +xref: OMIM:600383 {source="Orphanet:2496", source="MONDO:equivalentTo", source="Orphanet:2496/e"} xref: Orphanet:2496 {source="MONDO:equivalentTo", source="OMIM:600383"} xref: SCTID:724147004 {source="MONDO:equivalentTo"} -xref: UMLS:C1838162 {source="Orphanet:2496", source="ORDO:2496/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600383"} +xref: UMLS:C1838162 {source="Orphanet:2496", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2496/e", source="OMIM:600383"} is_a: MONDO:0005516 {source="https://orcid.org/0000-0001-5208-3432"} ! osteochondrodysplasia is_a: MONDO:0016907 {source="Orphanet:2496"} ! partial deletion of the long arm of chromosome 8 relationship: excluded_subClassOf MONDO:0019696 {source="Orphanet:2496"} ! acromesomelic dysplasia @@ -213116,9 +213075,9 @@ synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [OMIM:600384] synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1, OMIM:600384] xref: GARD:0000748 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:1113", source="ORDO:1113/attributed", source="ORDO:1113/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:1113/attributed", source="Orphanet:1113/ntbt", source="Orphanet:1113"} xref: MESH:C563942 {source="MONDO:equivalentTo"} -xref: OMIM:600384 {source="ORDO:1113/e", source="Orphanet:1113", source="MONDO:equivalentTo", source="GARD:0000748"} +xref: OMIM:600384 {source="Orphanet:1113", source="MONDO:equivalentTo", source="Orphanet:1113/e", source="GARD:0000748"} xref: Orphanet:1113 {source="OMIM:600384", source="MONDO:equivalentTo"} xref: UMLS:C1838161 {source="OMIM:600384", source="NCBI:mim2gene_medline", source="Orphanet:1113", source="MONDO:equivalentTo", source="GARD:0000748"} is_a: MONDO:0018234 ! dysostosis @@ -213138,7 +213097,7 @@ synonym: "Zori Stalker Williams syndrome" RELATED [GARD:0000374] synonym: "Zori-Stalker-Williams syndrome" EXACT [Orphanet:2835] xref: GARD:0000374 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536728 {source="MONDO:equivalentTo"} -xref: OMIM:600399 {source="MONDO:equivalentTo", source="ORDO:2835/e", source="Orphanet:2835"} +xref: OMIM:600399 {source="Orphanet:2835/e", source="MONDO:equivalentTo", source="Orphanet:2835"} xref: Orphanet:2835 {source="OMIM:600399", source="MONDO:equivalentTo"} xref: SCTID:763863002 {source="MONDO:equivalentTo"} xref: UMLS:C1838160 {source="NCBI:mim2gene_medline", source="OMIM:600399", source="MONDO:notFoundInDiseaseSubset"} @@ -213159,7 +213118,7 @@ xref: OMIM:600416 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="MONDO:subClassOf", source="OMIM:600416"} xref: SCTID:240074006 {source="MONDO:equivalentTo"} xref: UMLS:C0410192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600416"} -is_a: MONDO:0001347 {source="MESH:C562932", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="MESH:C562932", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy property_value: confidence "1.391975308641975" xsd:double [Term] @@ -213192,15 +213151,15 @@ synonym: "deletion 2q37-qter" EXACT [Orphanet:1001] synonym: "monosomy 2q37-qter" EXACT [Orphanet:1001] xref: DOID:0111704 {source="MONDO:equivalentTo"} xref: GARD:0010202 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:1001", source="ORDO:1001/attributed", source="ORDO:1001/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:1001/attributed", source="Orphanet:1001/ntbt", source="Orphanet:1001"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538317 {source="ORDO:1001/e", source="Orphanet:1001", source="MONDO:equivalentTo"} +xref: MESH:C538317 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"} xref: NCIT:C129021 {source="MONDO:equivalentTo"} -xref: OMIM:600430 {source="ORDO:1001/e", source="Orphanet:1001", source="MONDO:equivalentTo"} +xref: OMIM:600430 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"} xref: Orphanet:1001 {source="OMIM:600430", source="MONDO:equivalentTo"} xref: SCTID:702357000 {source="MONDO:equivalentTo"} xref: UMLS:C1838126 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931817 {source="ORDO:1001/e", source="OMIM:600430", source="Orphanet:1001", source="MONDO:equivalentTo", source="NCIT:C129021"} +xref: UMLS:C2931817 {source="OMIM:600430", source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e", source="NCIT:C129021"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129021", source="indirect"} ! syndromic disease is_a: MONDO:0016901 {source="Orphanet:1001"} ! partial deletion of the long arm of chromosome 2 is_a: MONDO:0018454 ! dysostosis of genetic origin @@ -213225,9 +213184,9 @@ synonym: "hypertrichosis, anterior cervical" RELATED [OMIM:600457] synonym: "Tsukahara Kajii syndrome" RELATED [GARD:0008438] synonym: "Tsukahara-Kajii syndrome" EXACT [Orphanet:3387] xref: GARD:0008438 {source="MONDO:equivalentTo"} -xref: ICD10CM:L68.2 {source="Orphanet:3387", source="ORDO:3387/attributed", source="ORDO:3387/ntbt"} +xref: ICD10CM:L68.2 {source="Orphanet:3387", source="Orphanet:3387/attributed", source="Orphanet:3387/ntbt"} xref: MESH:C538390 {source="MONDO:equivalentTo"} -xref: OMIM:600457 {source="Orphanet:3387", source="ORDO:3387/e", source="MONDO:equivalentTo"} +xref: OMIM:600457 {source="Orphanet:3387", source="MONDO:equivalentTo", source="Orphanet:3387/e"} xref: Orphanet:3387 {source="MONDO:equivalentTo", source="OMIM:600457"} xref: SCTID:717963001 {source="MONDO:equivalentTo"} xref: UMLS:C1838123 {source="Orphanet:3387", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600457"} @@ -213277,9 +213236,9 @@ name: arterial dissection-lentiginosis syndrome def: "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." [Orphanet:1682] subset: ordo_malformation_syndrome {source="Orphanet:1682"} synonym: "arterial dissection with lentiginosis" RELATED [OMIM:600459] -xref: ICD10CM:Q87.8 {source="Orphanet:1682", source="ORDO:1682/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1682", source="Orphanet:1682/ntbt"} xref: MESH:C563937 {source="MONDO:equivalentTo"} -xref: OMIM:600459 {source="Orphanet:1682", source="ORDO:1682/e", source="MONDO:equivalentTo"} +xref: OMIM:600459 {source="Orphanet:1682", source="MONDO:equivalentTo", source="Orphanet:1682/e"} xref: Orphanet:1682 {source="MONDO:equivalentTo", source="OMIM:600459"} xref: UMLS:C1838122 {source="Orphanet:1682", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600459"} is_a: MONDO:0024471 {source="Orphanet:1682"} ! non-inflammatory vasculopathy @@ -213297,9 +213256,9 @@ synonym: "CCGE syndrome" EXACT [Orphanet:2008] synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [OMIM:600460] synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [Orphanet:2008] xref: GARD:0001167 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2008/attributed", source="ORDO:2008/ntbt", source="Orphanet:2008"} +xref: ICD10CM:Q87.8 {source="Orphanet:2008", source="Orphanet:2008/attributed", source="Orphanet:2008/ntbt"} xref: MESH:C563936 {source="MONDO:equivalentTo"} -xref: OMIM:600460 {source="MONDO:equivalentTo", source="ORDO:2008/e", source="Orphanet:2008"} +xref: OMIM:600460 {source="MONDO:equivalentTo", source="Orphanet:2008", source="Orphanet:2008/e"} xref: Orphanet:2008 {source="MONDO:equivalentTo", source="OMIM:600460"} xref: UMLS:C1838121 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2008", source="OMIM:600460"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2008", source="indirect"} ! syndromic intellectual disability @@ -213317,9 +213276,9 @@ synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and oth synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461] synonym: "water-West syndrome" EXACT [Orphanet:1046] xref: GARD:0002642 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D58.8 {source="Orphanet:1046", source="ORDO:1046/attributed", source="ORDO:1046/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:1046", source="Orphanet:1046/attributed", source="Orphanet:1046/ntbt"} xref: MESH:C563935 {source="MONDO:equivalentTo"} -xref: OMIM:600461 {source="Orphanet:1046", source="ORDO:1046/e", source="MONDO:equivalentTo"} +xref: OMIM:600461 {source="Orphanet:1046", source="MONDO:equivalentTo", source="Orphanet:1046/e"} xref: Orphanet:1046 {source="OMIM:600461", source="MONDO:equivalentTo"} xref: UMLS:C1838120 {source="OMIM:600461", source="Orphanet:1046", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003664 {source="Orphanet:1046"} ! hemolytic anemia @@ -213473,9 +213432,9 @@ xref: DOID:0060748 {source="MONDO:equivalentTo"} xref: GARD:0002257 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537297 {source="MONDO:equivalentTo"} xref: NCIT:C141441 {source="MONDO:superClassOf"} -xref: OMIM:600512 {source="ORDO:101046/e", source="Orphanet:101046", source="MONDO:superClassOf", source="DOID:0060748"} -xref: OMIM:616436 {source="Orphanet:101046", source="MONDO:superClassOf", source="ORDO:101046/btnt"} -xref: OMIM:616461 {source="Orphanet:101046", source="MONDO:superClassOf", source="ORDO:101046/btnt"} +xref: OMIM:600512 {source="Orphanet:101046", source="MONDO:superClassOf", source="Orphanet:101046/e", source="DOID:0060748"} +xref: OMIM:616436 {source="Orphanet:101046/btnt", source="Orphanet:101046", source="MONDO:superClassOf"} +xref: OMIM:616461 {source="Orphanet:101046/btnt", source="Orphanet:101046", source="MONDO:superClassOf"} xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source="DOID:0060748"} xref: UMLS:C1838062 {source="Orphanet:101046", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600512"} is_a: MONDO:0005027 {source="DOID:0060748/inferred", source="MESH:C537297/inferred", source="MONDO:Redundant", source="NCIT:C141441", source="OMIM:600512/inferred"} ! epilepsy @@ -213519,7 +213478,7 @@ xref: OMIM:600546 {source="MONDO:equivalentTo"} xref: Orphanet:808 {source="MONDO:subClassOf", source="OMIM:600546"} xref: UMLS:C1833615 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931307 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600546"} -is_a: MONDO:0019342 {source="ORDO:808/btnt"} ! Seckel syndrome +is_a: MONDO:0019342 {source="Orphanet:808/btnt"} ! Seckel syndrome relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:600546"} ! Autosomal recessive inheritance property_value: confidence "1.7876687750502542" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity xsd:anyURI {source="GARD:0005593"} @@ -213536,9 +213495,9 @@ synonym: "HEC syndrome" EXACT [OMIM:600559] synonym: "hydrocephalus, endocardial fibroelastosis, and cataracts" RELATED [OMIM:600559] synonym: "hydrocephalus-endocardial fibroelastosis-cataract syndrome" EXACT [Orphanet:2119] xref: GARD:0002620 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2119/attributed", source="ORDO:2119/ntbt", source="Orphanet:2119"} +xref: ICD10CM:Q87.8 {source="Orphanet:2119", source="Orphanet:2119/attributed", source="Orphanet:2119/ntbt"} xref: MESH:C535855 {source="MONDO:equivalentTo"} -xref: OMIM:600559 {source="MONDO:equivalentTo", source="Orphanet:2119", source="ORDO:2119/e"} +xref: OMIM:600559 {source="MONDO:equivalentTo", source="Orphanet:2119", source="Orphanet:2119/e"} xref: Orphanet:2119 {source="MONDO:equivalentTo", source="OMIM:600559"} xref: SCTID:721015008 {source="MONDO:equivalentTo"} xref: UMLS:C1833607 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2119", source="OMIM:600559"} @@ -213552,9 +213511,9 @@ name: spondyloepiphyseal dysplasia, Reardon type def: "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." [Orphanet:163662] subset: ordo_disease {source="Orphanet:163662"} synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561] -xref: ICD10CM:Q77.7 {source="ORDO:163662/attributed", source="ORDO:163662/ntbt", source="Orphanet:163662"} +xref: ICD10CM:Q77.7 {source="Orphanet:163662", source="Orphanet:163662/attributed", source="Orphanet:163662/ntbt"} xref: MESH:C563472 {source="MONDO:equivalentTo"} -xref: OMIM:600561 {source="ORDO:163662/e", source="MONDO:equivalentTo", source="Orphanet:163662"} +xref: OMIM:600561 {source="MONDO:equivalentTo", source="Orphanet:163662", source="Orphanet:163662/e"} xref: Orphanet:163662 {source="OMIM:600561", source="MONDO:equivalentTo"} xref: SCTID:718764004 {source="MONDO:equivalentTo"} xref: UMLS:C1833603 {source="OMIM:600561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163662"} @@ -213618,7 +213577,7 @@ xref: Orphanet:1991 {source="MONDO:subClassOf", source="OMIM:600625"} xref: UMLS:C1833563 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600625"} xref: UMLS:C2677434 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600625"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:600625"} ! orofacial cleft -is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate +is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1071 ! BMP4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1071 {source="mim2gene_medgen"} ! BMP4 @@ -213637,13 +213596,13 @@ synonym: "hypertryptophanemia, familial" RELATED [OMIM:600627] synonym: "HYPTRP" RELATED ABBREVIATION [OMIM:600627] xref: DOID:0111703 {source="MONDO:equivalentTo"} xref: GARD:0002871 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.8 {source="Orphanet:2224", source="ORDO:2224/attributed", source="ORDO:2224/ntbt"} -xref: MESH:C538393 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"} -xref: OMIM:600627 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"} +xref: ICD10CM:E70.8 {source="Orphanet:2224/attributed", source="Orphanet:2224/ntbt", source="Orphanet:2224"} +xref: MESH:C538393 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} +xref: OMIM:600627 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} xref: Orphanet:2224 {source="MONDO:equivalentTo", source="OMIM:600627"} xref: SCTID:721838005 {source="MONDO:equivalentTo"} xref: UMLS:C1833562 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:600627"} -xref: UMLS:C2931837 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"} +xref: UMLS:C2931837 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"} is_a: MONDO:0017350 {source="Orphanet:2224", source="linkedlifedata/inferred"} ! inborn disorder of tryptophan metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11708 {source="mim2gene_medgen"} ! TDO2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -213658,13 +213617,13 @@ subset: ordo_disease {source="Orphanet:168"} synonym: "loose anagen hair syndrome" RELATED [OMIM:600628] xref: DOID:0111702 {source="MONDO:equivalentTo"} xref: GARD:0003287 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L65.1 {source="ORDO:168/attributed", source="ORDO:168/ntbt", source="Orphanet:168"} +xref: ICD10CM:L65.1 {source="Orphanet:168/attributed", source="Orphanet:168/ntbt", source="Orphanet:168"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D058247 {source="MONDO:equivalentTo", source="ORDO:168/e", source="Orphanet:168"} -xref: OMIM:600628 {source="MONDO:equivalentTo", source="ORDO:168/e", source="Orphanet:168"} +xref: MESH:D058247 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} +xref: OMIM:600628 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} xref: Orphanet:168 {source="MONDO:equivalentTo", source="OMIM:600628"} xref: SCTID:238735005 {source="MONDO:equivalentTo"} -xref: UMLS:C0406468 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600628", source="ORDO:168/e", source="Orphanet:168"} +xref: UMLS:C0406468 {source="Orphanet:168/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600628", source="Orphanet:168"} is_a: MONDO:0004907 {source="MESH:D058247", source="Orphanet:168"} ! alopecia relationship: disease_disrupts GO:0042640 ! anagen property_value: confidence "3.533333333333334" xsd:double @@ -213742,11 +213701,11 @@ synonym: "prolactinoma, familial" RELATED [OMIM:600634] xref: DOID:5394 {source="MONDO:equivalentTo"} xref: EFO:1000496 {source="MONDO:equivalentTo"} xref: GARD:0004508 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="ORDO:2965/nd", source="Orphanet:2965"} -xref: ICD10CM:E22.1 {source="MONDO:relatedTo", source="ORDO:2965/nd", source="Orphanet:2965"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"} +xref: ICD10CM:E22.1 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"} xref: ICDO:8271/0 {source="NCIT:C3342"} -xref: MedDRA:10036832 {source="ORDO:2965/e", source="Orphanet:2965"} -xref: MESH:D015175 {source="MONDO:equivalentTo", source="ORDO:2965/e", source="Orphanet:2965", source="DOID:5394"} +xref: MedDRA:10036832 {source="Orphanet:2965", source="Orphanet:2965/e"} +xref: MESH:D015175 {source="MONDO:equivalentTo", source="Orphanet:2965", source="DOID:5394", source="Orphanet:2965/e"} xref: NCIT:C3342 {source="EFO:1000496", source="MONDO:equivalentTo", source="exact-label-match", source="DOID:5394"} xref: OMIM:600634 {source="EFO:1000496", source="MONDO:equivalentTo", source="DOID:5394"} xref: Orphanet:2965 {source="MONDO:equivalentTo"} @@ -213754,11 +213713,11 @@ xref: Orphanet:314777 {source="MONDO:subClassOf", source="OMIM:600634"} xref: SCTID:134209002 {source="MONDO:equivalentTo", source="DOID:5394"} xref: SCTID:34337008 {source="DOID:5394"} xref: SCTID:367098005 {source="DOID:5394"} -xref: UMLS:C0033375 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2965/e", source="NCIT:C3342", source="OMIM:600634", source="Orphanet:2965", source="DOID:5394"} +xref: UMLS:C0033375 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3342", source="OMIM:600634", source="Orphanet:2965", source="DOID:5394", source="Orphanet:2965/e"} is_a: MONDO:0003430 {source="NCIT:C3342"} ! prolactin producing pituitary tumor is_a: MONDO:0005372 {source="MONDO:0018386-obsoleted", source="MONDO:Redundant"} ! male infertility is_a: MONDO:0006373 {source="DOID:5394/inferred", source="MONDO:Redundant", source="NCIT:C3342", source="Orphanet:2965/inferred", source="linkedlifedata"} ! pituitary gland adenoma -is_a: MONDO:0017824 {source="ORDO:314777/btnt"} ! familial isolated pituitary adenoma +is_a: MONDO:0017824 {source="Orphanet:314777/btnt"} ! familial isolated pituitary adenoma is_a: MONDO:0021124 {source="MONDO:0018397-obsoleted"} ! female infertility relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/358 {source="mim2gene_medgen"} ! AIP relationship: has_modifier MONDO:0021136 {source="MONDO:0018404"} ! rare @@ -213778,7 +213737,7 @@ xref: MESH:C567572 {source="MONDO:equivalentTo"} xref: OMIM:600638 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:600638"} xref: UMLS:C2748801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600638"} -is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:600638", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:600638", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20772 ! TUBB3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20772 {source="mim2gene_medgen"} ! TUBB3 @@ -213798,17 +213757,17 @@ synonym: "cystic dilatation of the intrahepatic biliary tree" RELATED [GARD:0006 xref: DOID:0050876 {source="MONDO:equivalentTo"} xref: EFO:1001286 {source="MONDO:equivalentTo"} xref: GARD:0006002 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q44.6 {source="Orphanet:53035", source="ORDO:53035/attributed", source="ORDO:53035/ntbt"} -xref: MedDRA:10013003 {source="Orphanet:53035", source="ORDO:53035/e"} -xref: MESH:C531647 {source="Orphanet:53035", source="ORDO:53035/e"} -xref: MESH:D016767 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="ORDO:53035/e"} +xref: ICD10CM:Q44.6 {source="Orphanet:53035", source="Orphanet:53035/attributed", source="Orphanet:53035/ntbt"} +xref: MedDRA:10013003 {source="Orphanet:53035", source="Orphanet:53035/e"} +xref: MESH:C531647 {source="Orphanet:53035", source="Orphanet:53035/e"} +xref: MESH:D016767 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="Orphanet:53035/e"} xref: NCIT:C84619 {source="DOID:0050876", source="MONDO:equivalentTo"} -xref: OMIM:600643 {source="Orphanet:53035", source="MONDO:equivalentTo", source="ORDO:53035/e"} +xref: OMIM:600643 {source="Orphanet:53035", source="MONDO:equivalentTo", source="Orphanet:53035/e"} xref: Orphanet:53035 {source="MONDO:equivalentTo", source="OMIM:600643"} xref: SCTID:111331000 {source="DOID:0050876"} xref: SCTID:717232005 {source="MONDO:equivalentTo"} -xref: UMLS:C0162510 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="NCIT:C84619", source="ORDO:53035/e"} -xref: UMLS:C1833541 {source="Orphanet:53035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600643", source="ORDO:53035/e"} +xref: UMLS:C0162510 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="Orphanet:53035/e", source="NCIT:C84619"} +xref: UMLS:C1833541 {source="Orphanet:53035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600643", source="Orphanet:53035/e"} is_a: MONDO:0002887 {source="DOID:0050876", source="MESH:D016767/inferred", source="MONDO:Redundant", source="NCIT:C84619/inferred", source="linkedlifedata/inferred"} ! bile duct disorder is_a: MONDO:0006322 {source="NCIT:C84619"} ! non-neoplastic bile duct disorder is_a: MONDO:0015213 {source="Orphanet:53035"} ! non-syndromic visceral malformation @@ -213836,9 +213795,9 @@ synonym: "CPT2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPT2, severe infantile form" EXACT [Orphanet:228305] synonym: "CPTII, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPTII, severe infantile form" EXACT [Orphanet:228305] -xref: ICD10CM:E71.3 {source="Orphanet:228305", source="ORDO:228305/attributed", source="ORDO:228305/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:228305/attributed", source="Orphanet:228305/ntbt", source="Orphanet:228305"} xref: MESH:C563462 {source="MONDO:equivalentTo"} -xref: OMIM:600649 {source="ORDO:228305/e", source="Orphanet:228305", source="MONDO:equivalentTo"} +xref: OMIM:600649 {source="Orphanet:228305", source="MONDO:equivalentTo", source="Orphanet:228305/e"} xref: Orphanet:157 {source="MONDO:subClassOf", source="OMIM:600649"} xref: Orphanet:228305 {source="MONDO:equivalentTo", source="OMIM:600649"} xref: UMLS:C1833511 {source="Orphanet:228305", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600649"} @@ -213911,7 +213870,7 @@ xref: MESH:C535938 {source="MONDO:equivalentTo"} xref: OMIM:600668 {source="MONDO:equivalentTo"} xref: Orphanet:1416 {source="MONDO:subClassOf", source="OMIM:600668"} xref: UMLS:C1833499 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:600668"} -is_a: MONDO:0001314 {source="ORDO:1416/btnt"} ! chondrocalcinosis +is_a: MONDO:0001314 {source="Orphanet:1416/btnt"} ! chondrocalcinosis property_value: confidence "2.410526315789474" xsd:double [Term] @@ -213956,13 +213915,13 @@ synonym: "microtia, congenital" EXACT [MESH:D065817] synonym: "microtia-anotia" EXACT [OMIM:600674] synonym: "microtias, congenital" EXACT [MESH:D065817] xref: GARD:0000431 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="ORDO:83463/specific", source="ORDO:83463/e"} +xref: ICD10CM:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e", source="Orphanet:83463/specific"} xref: ICD9:744.23 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10027555 {source="Orphanet:83463", source="ORDO:83463/e"} -xref: MESH:C537772 {source="Orphanet:83463", source="MONDO:equivalentObsolete", source="ORDO:83463/e"} +xref: MedDRA:10027555 {source="Orphanet:83463", source="Orphanet:83463/e"} +xref: MESH:C537772 {source="Orphanet:83463", source="MONDO:equivalentObsolete", source="Orphanet:83463/e"} xref: MESH:D065817 {source="MONDO:equivalentTo"} -xref: OMIM:128800 {source="Orphanet:83463", source="MONDO:superClassOf", source="ORDO:83463/btnt"} -xref: OMIM:600674 {source="Orphanet:83463", source="MONDO:equivalentTo", source="ORDO:83463/e"} +xref: OMIM:128800 {source="Orphanet:83463/btnt", source="Orphanet:83463", source="MONDO:superClassOf"} +xref: OMIM:600674 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e"} xref: Orphanet:83463 {source="OMIM:600674", source="MONDO:equivalentTo"} xref: Orphanet:93976 {source="OMIM:600674", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: SCTID:35045004 {source="MONDO:equivalentTo"} @@ -213980,9 +213939,9 @@ def: "A dermoid cyst that involves the nose." [MONDO:patterns/location] subset: ordo_morphological_anomaly {source="Orphanet:141103"} synonym: "dermoid cysts, familial frontonasal" RELATED [OMIM:600679] synonym: "nasal dermoid sinus cyst" EXACT [Orphanet:141103] -xref: ICD10CM:Q18.8 {source="ORDO:141103/ntbt", source="Orphanet:141103"} +xref: ICD10CM:Q18.8 {source="Orphanet:141103", source="Orphanet:141103/ntbt"} xref: MESH:C563455 {source="MONDO:equivalentTo"} -xref: OMIM:600679 {source="MONDO:equivalentTo", source="ORDO:141103/e", source="Orphanet:141103"} +xref: OMIM:600679 {source="MONDO:equivalentTo", source="Orphanet:141103", source="Orphanet:141103/e"} xref: Orphanet:141103 {source="MONDO:equivalentTo", source="OMIM:600679"} xref: UMLS:C1833473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600679", source="Orphanet:141103"} is_a: MONDO:0003847 ! Mendelian disease @@ -214002,12 +213961,12 @@ synonym: "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnor synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [OMIM:600705] synonym: "Satoyoshi syndrome" EXACT [OMIM:600705] xref: GARD:0000160 {source="MONDO:equivalentTo"} -xref: MedDRA:10070579 {source="Orphanet:3130", source="ORDO:3130/e"} -xref: MESH:C536616 {source="MONDO:equivalentTo", source="Orphanet:3130", source="ORDO:3130/e"} -xref: OMIM:600705 {source="MONDO:equivalentTo", source="Orphanet:3130", source="ORDO:3130/e"} +xref: MedDRA:10070579 {source="Orphanet:3130/e", source="Orphanet:3130"} +xref: MESH:C536616 {source="Orphanet:3130/e", source="MONDO:equivalentTo", source="Orphanet:3130"} +xref: OMIM:600705 {source="Orphanet:3130/e", source="MONDO:equivalentTo", source="Orphanet:3130"} xref: Orphanet:3130 {source="MONDO:equivalentTo", source="OMIM:600705"} xref: SCTID:763630007 {source="MONDO:equivalentTo"} -xref: UMLS:C1833454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600705", source="Orphanet:3130", source="ORDO:3130/e"} +xref: UMLS:C1833454 {source="Orphanet:3130/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600705", source="Orphanet:3130"} is_a: MONDO:0004907 {source="MESH:C536616", source="Orphanet:3130"} ! alopecia is_a: MONDO:0005020 {source="Orphanet:3130"} ! intestinal disorder is_a: MONDO:0019852 {source="Orphanet:3130"} ! inherited primary ovarian failure @@ -214041,9 +214000,9 @@ synonym: "D2HA" RELATED ABBREVIATION [GARD:0005661] synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600721] xref: DOID:0050575 {source="MONDO:equivalentTo"} xref: GARD:0005661 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:79315", source="ORDO:79315/attributed", source="ORDO:79315/ntbt"} -xref: OMIM:600721 {source="Orphanet:79315", source="DOID:0050575", source="MONDO:superClassOf", source="ORDO:79315/e"} -xref: OMIM:613657 {source="Orphanet:79315", source="DOID:0050575", source="MONDO:superClassOf", source="ORDO:79315/btnt"} +xref: ICD10CM:E72.8 {source="Orphanet:79315", source="Orphanet:79315/attributed", source="Orphanet:79315/ntbt"} +xref: OMIM:600721 {source="Orphanet:79315", source="DOID:0050575", source="Orphanet:79315/e", source="MONDO:superClassOf"} +xref: OMIM:613657 {source="Orphanet:79315", source="DOID:0050575", source="Orphanet:79315/btnt", source="MONDO:superClassOf"} xref: OMIMPS:600721 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="MONDO:equivalentTo", source="OMIM:600721"} xref: SCTID:237960000 {source="MONDO:equivalentTo"} @@ -214060,9 +214019,9 @@ def: "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies subset: ordo_malformation_syndrome {source="Orphanet:3424"} synonym: "VELOFACIOSKELETAL syndrome" RELATED [OMIM:600736] xref: GARD:0005469 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:3424", source="ORDO:3424/attributed", source="ORDO:3424/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:3424/attributed", source="Orphanet:3424/ntbt", source="Orphanet:3424"} xref: MESH:C536536 {source="MONDO:equivalentTo"} -xref: OMIM:600736 {source="Orphanet:3424", source="ORDO:3424/e", source="MONDO:equivalentTo"} +xref: OMIM:600736 {source="Orphanet:3424", source="MONDO:equivalentTo", source="Orphanet:3424/e"} xref: Orphanet:3424 {source="MONDO:equivalentTo", source="OMIM:600736"} xref: SCTID:763616002 {source="MONDO:equivalentTo"} xref: UMLS:C1833380 {source="Orphanet:3424", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600736"} @@ -214093,12 +214052,12 @@ synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878, synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical, OMIM:600740] xref: DOID:0060702 {source="MONDO:equivalentTo"} xref: GARD:0002878 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.5 {source="ORDO:101050/attributed", source="ORDO:101050/ntbt", source="Orphanet:101050", source="DOID:0060702"} -xref: MESH:C537147 {source="MONDO:equivalentTo", source="Orphanet:101050", source="ORDO:101050/e"} -xref: OMIM:600740 {source="MONDO:equivalentTo", source="Orphanet:101050", source="DOID:0060702", source="ORDO:101050/e"} +xref: ICD10CM:E83.5 {source="Orphanet:101050", source="DOID:0060702", source="Orphanet:101050/attributed", source="Orphanet:101050/ntbt"} +xref: MESH:C537147 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050"} +xref: OMIM:600740 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050", source="DOID:0060702"} xref: Orphanet:101050 {source="OMIM:600740", source="MONDO:equivalentTo", source="DOID:0060702"} xref: Orphanet:405 {source="MONDO:subClassOf", source="OMIM:600740"} -xref: UMLS:C1833372 {source="NCBI:mim2gene_medline", source="OMIM:600740", source="MONDO:equivalentTo", source="Orphanet:101050", source="ORDO:101050/e"} +xref: UMLS:C1833372 {source="Orphanet:101050/e", source="NCBI:mim2gene_medline", source="OMIM:600740", source="MONDO:equivalentTo", source="Orphanet:101050"} is_a: MONDO:0018458 {source="DC-OMIM:600740", source="DOID:0060702", source="MONDO:Redundant", source="OMIM:600740", source="Orphanet:101050"} ! familial hypocalciuric hypercalcemia intersection_of: MONDO:0018458 ! familial hypocalciuric hypercalcemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/565 ! AP2S1 @@ -214171,12 +214130,12 @@ synonym: "Fryns microphthalmia syndrome" EXACT [GARD:0000719, OMIM:600776, Orpha synonym: "Leichtman Wood Rohn syndrome" RELATED [GARD:0000719] synonym: "microphthalmia with facial clefting" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104] xref: GARD:0000719 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1104/attributed", source="ORDO:1104/ntbt", source="Orphanet:1104"} -xref: MESH:C537767 {source="ORDO:1104/e", source="MONDO:equivalentTo", source="Orphanet:1104"} -xref: OMIM:600776 {source="GARD:0000719", source="ORDO:1104/e", source="MONDO:equivalentTo", source="Orphanet:1104"} +xref: ICD10CM:Q87.8 {source="Orphanet:1104", source="Orphanet:1104/attributed", source="Orphanet:1104/ntbt"} +xref: MESH:C537767 {source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"} +xref: OMIM:600776 {source="GARD:0000719", source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"} xref: Orphanet:1104 {source="GARD:0000719", source="MONDO:equivalentTo", source="OMIM:600776"} xref: SCTID:720496006 {source="MONDO:equivalentTo"} -xref: UMLS:C1833339 {source="GARD:0000719", source="ORDO:1104/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600776", source="Orphanet:1104"} +xref: UMLS:C1833339 {source="GARD:0000719", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600776", source="Orphanet:1104", source="Orphanet:1104/e"} is_a: MONDO:0002254 {source="MONDO:cjm", source="https://github.com/monarch-initiative/mondo/issues/140"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1104", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1104", source="Orphanet:1104/inferred"} ! disorder of development or morphogenesis @@ -214201,7 +214160,7 @@ xref: Orphanet:93160 {source="MONDO:subClassOf", source="OMIM:600785"} xref: SCTID:237895001 {source="MONDO:equivalentTo"} xref: UMLS:C2748783 {source="OMIM:600785", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005520 {source="DC-OMIM:600785", source="MONDO:Redundant", source="NCIT:C131076", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickets -is_a: MONDO:0019642 {source="ORDO:93160/btnt", source="linkedlifedata"} ! vitamin D-dependent rickets, type 2 +is_a: MONDO:0019642 {source="Orphanet:93160/btnt", source="linkedlifedata"} ! vitamin D-dependent rickets, type 2 property_value: confidence "1.4999999999999996" xsd:double [Term] @@ -214216,11 +214175,11 @@ synonym: "Crapb" RELATED [OMIM:600790] synonym: "PBCRA" EXACT ABBREVIATION [Orphanet:75373] synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790] xref: GARD:0010123 {source="MONDO:equivalentTo"} -xref: MESH:C535356 {source="MONDO:equivalentTo", source="ORDO:75373/e", source="Orphanet:75373"} -xref: OMIM:600790 {source="MONDO:equivalentTo", source="ORDO:75373/e", source="Orphanet:75373"} +xref: MESH:C535356 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} +xref: OMIM:600790 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: Orphanet:75373 {source="MONDO:equivalentTo", source="OMIM:600790"} xref: SCTID:719266007 {source="MONDO:equivalentTo"} -xref: UMLS:C1833321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:75373/e", source="Orphanet:75373", source="OMIM:600790"} +xref: UMLS:C1833321 {source="Orphanet:75373/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:75373", source="OMIM:600790"} is_a: MONDO:0019118 {source="Orphanet:75373", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy xsd:anyURI {source="GARD:0010123"} @@ -214232,8 +214191,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in mu synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [DOID:0110498] synonym: "autosomal recessive nonsyndromic deafness 4" NARROW [OMIM:600791] synonym: "autosomal recessive nonsyndromic deafness type 4" NARROW [DOID:0110498, MONDORULE:1] -synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [OMIM:600791, OMIM:genemap2] -synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [MONDO:Lexical, OMIM:600791] +synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [MONDO:Lexical, OMIM:600791, OMIM:genemap2] synonym: "DFNB4" NARROW ABBREVIATION [DOID:0110498, MONDO:Lexical, OMIM:600791] synonym: "dilated vestibular aqueduct" RELATED [OMIM:600791] synonym: "enlarged vestibular aqueduct" EXACT [OMIM:600791, OMIM:genemap2] @@ -214297,7 +214255,7 @@ xref: SCTID:702393003 {source="MONDO:equivalentTo"} xref: UMLS:C1833296 {source="NCBI:mim2gene_medline", source="OMIM:600795", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C1836076 {source="OMIM:614696", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="DOID:0060208", source="MESH:C563708", source="MONDO:Redundant", source="OMIM:600795", source="OMIM:614696", source="indirect"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017160 {source="ORDO:275864/btnt"} ! behavioral variant of frontotemporal dementia +is_a: MONDO:0017160 {source="Orphanet:275864/btnt"} ! behavioral variant of frontotemporal dementia is_a: MONDO:0030923 {comment="OMIM:600795"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24537 ! CHMP2B @@ -214324,9 +214282,9 @@ synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE synonym: "T-B+ SCID due to JAK3 deficiency" EXACT [Orphanet:35078] synonym: "T-B+ severe combined immunodeficiency due to JAK3 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" EXACT [] -xref: ICD10CM:D81.2 {source="ORDO:35078/attributed", source="ORDO:35078/ntbt", source="Orphanet:35078"} +xref: ICD10CM:D81.2 {source="Orphanet:35078", source="Orphanet:35078/attributed", source="Orphanet:35078/ntbt"} xref: MESH:C563440 {source="MONDO:equivalentTo"} -xref: OMIM:600802 {source="MONDO:equivalentTo", source="ORDO:35078/e", source="Orphanet:35078"} +xref: OMIM:600802 {source="Orphanet:35078/e", source="MONDO:equivalentTo", source="Orphanet:35078"} xref: Orphanet:35078 {source="MONDO:equivalentTo", source="OMIM:600802"} xref: SCTID:718107000 {source="MONDO:equivalentTo"} xref: UMLS:C1833275 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600802"} @@ -214349,12 +214307,12 @@ synonym: "gallbladder disease 1" RELATED [MONDO:Lexical, OMIM:600803] synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803] synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600803] synonym: "LPAC" EXACT ABBREVIATION [Orphanet:69663] -xref: MedDRA:10068936 {source="ORDO:69663/e", source="Orphanet:69663"} -xref: OMIM:600803 {source="MONDO:equivalentTo", source="ORDO:69663/e", source="Orphanet:69663"} +xref: MedDRA:10068936 {source="Orphanet:69663/e", source="Orphanet:69663"} +xref: OMIM:600803 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="Orphanet:69663"} xref: Orphanet:69663 {source="MONDO:equivalentTo", source="OMIM:600803"} xref: SCTID:715577009 {source="MONDO:equivalentTo"} xref: UMLS:C0008325 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2609268 {source="MONDO:equivalentTo", source="ORDO:69663/e", source="OMIM:600803", source="Orphanet:69663"} +xref: UMLS:C2609268 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="OMIM:600803", source="Orphanet:69663"} is_a: MONDO:0002155 {source="OMIM:600803"} ! cholecystitis is_a: MONDO:0005281 {source="DC-OMIM:600803", source="MONDO:Redundant", source="OMIM:600803", source="OMIM:600803/inferred"} ! gallbladder disorder is_a: MONDO:0015509 {source="Orphanet:69663"} ! genetic biliary tract disease @@ -214494,16 +214452,16 @@ synonym: "Budd-Chiari syndrome, somatic" EXACT [OMIM:600880, OMIM:genemap2] synonym: "membranous obstruction of Inferior vena cava" RELATED [OMIM:600880] synonym: "membranous obstruction of the inferior vena cava" RELATED [GARD:0005968] xref: GARD:0005968 {source="MONDO:equivalentTo"} -xref: ICD10CM:I82.0 {source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"} +xref: ICD10CM:I82.0 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} xref: ICD9:453.0 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10006537 {source="ORDO:131/e", source="Orphanet:131"} -xref: MESH:D006502 {source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"} -xref: OMIM:600880 {source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"} +xref: MedDRA:10006537 {source="Orphanet:131/e", source="Orphanet:131"} +xref: MESH:D006502 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} +xref: OMIM:600880 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} xref: Orphanet:131 {source="OMIM:600880", source="MONDO:equivalentTo"} xref: SCTID:82385007 {source="MONDO:equivalentTo"} xref: UMLS:C0019154 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:131"} xref: UMLS:C0546323 {source="OMIM:600880", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0856761 {source="OMIM:600880", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:131/e", source="Orphanet:131"} +xref: UMLS:C0856761 {source="OMIM:600880", source="Orphanet:131/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:131"} is_a: MONDO:0005154 ! liver disorder relationship: disease_has_location UBERON:0006877 ! vasculature of liver relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare @@ -214531,7 +214489,7 @@ xref: Orphanet:98985 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:600881"} xref: UMLS:C1833229 {source="OMIM:600881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110258", source="MESH:C563435", source="MONDO:Redundant", source="OMIM:600881", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2394 ! CRYBA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2394 {source="mim2gene_medgen"} ! CRYBA1 @@ -214563,9 +214521,9 @@ synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110159 {source="MONDO:equivalentTo"} xref: GARD:0009192 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110159", source="ORDO:99936/attributed", source="ORDO:99936/ntbt", source="Orphanet:99936"} +xref: ICD10CM:G60.0 {source="DOID:0110159", source="Orphanet:99936", source="Orphanet:99936/attributed", source="Orphanet:99936/ntbt"} xref: MESH:C537989 {source="MONDO:equivalentTo"} -xref: OMIM:600882 {source="DOID:0110159", source="ORDO:99936/e", source="MONDO:equivalentTo", source="Orphanet:99936"} +xref: OMIM:600882 {source="DOID:0110159", source="MONDO:equivalentTo", source="Orphanet:99936", source="Orphanet:99936/e"} xref: Orphanet:99936 {source="DOID:0110159", source="OMIM:600882", source="MONDO:equivalentTo"} xref: SCTID:717008005 {source="MONDO:equivalentTo"} xref: UMLS:C1833219 {source="OMIM:600882", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99936"} @@ -214629,14 +214587,14 @@ synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [OMI synonym: "hyperferritinemia-cataract syndrome" RELATED [OMIM:600886] xref: DOID:0111256 {source="MONDO:equivalentTo"} xref: GARD:0002806 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H26.0 {source="ORDO:163/attributed", source="ORDO:163/ntbt", source="Orphanet:163"} +xref: ICD10CM:H26.0 {source="Orphanet:163/attributed", source="Orphanet:163/ntbt", source="Orphanet:163"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:366.44 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538137 {source="MONDO:equivalentTo", source="ORDO:163/e", source="Orphanet:163"} -xref: OMIM:600886 {source="MONDO:equivalentTo", source="ORDO:163/e", source="Orphanet:163"} +xref: MESH:C538137 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="Orphanet:163"} +xref: OMIM:600886 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="Orphanet:163"} xref: Orphanet:163 {source="MONDO:equivalentTo", source="OMIM:600886"} xref: SCTID:702398007 {source="MONDO:equivalentTo"} -xref: UMLS:C1833213 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600886", source="ORDO:163/e", source="Orphanet:163"} +xref: UMLS:C1833213 {source="Orphanet:163/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600886", source="Orphanet:163"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0020225 {source="Orphanet:163"} ! syndromic cataract relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3999 {source="mim2gene_medgen"} ! FTL @@ -214675,7 +214633,7 @@ xref: MESH:C563431 {source="MONDO:equivalentTo"} xref: OMIM:600903 {source="MONDO:equivalentTo"} xref: Orphanet:906 {source="MONDO:subClassOf", source="OMIM:600903"} xref: UMLS:C1833170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600903"} -is_a: MONDO:0021094 {source="MESH:C563431", source="ORDO:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="MESH:C563431", source="Orphanet:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease property_value: confidence "1.5846363636363643" xsd:double [Term] @@ -214753,9 +214711,9 @@ synonym: "van den Ende-Gupta syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, O synonym: "VDEGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600920, Orphanet:2460] xref: DOID:0111699 {source="MONDO:equivalentTo"} xref: GARD:0003382 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:2460/attributed", source="ORDO:2460/ntbt", source="Orphanet:2460"} +xref: ICD10CM:Q87.0 {source="Orphanet:2460/attributed", source="Orphanet:2460/ntbt", source="Orphanet:2460"} xref: MESH:C535909 {source="MONDO:equivalentTo"} -xref: OMIM:600920 {source="MONDO:equivalentTo", source="ORDO:2460/e", source="Orphanet:2460"} +xref: OMIM:600920 {source="Orphanet:2460/e", source="MONDO:equivalentTo", source="Orphanet:2460"} xref: Orphanet:2460 {source="MONDO:equivalentTo", source="OMIM:600920"} xref: SCTID:719845008 {source="MONDO:equivalentTo"} xref: UMLS:C1833136 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600920", source="Orphanet:2460"} @@ -214786,9 +214744,9 @@ synonym: "obesity with impaired prohormone processing" EXACT [OMIM:600955, OMIM: synonym: "PCI deficiency" EXACT [Orphanet:71528] synonym: "proprotein convertase 1/3 deficiency" RELATED [OMIM:600955] xref: DOID:0111698 {source="MONDO:equivalentTo"} -xref: ICD10CM:E66.8 {source="ORDO:71528/attributed", source="ORDO:71528/ntbt", source="Orphanet:71528"} +xref: ICD10CM:E66.8 {source="Orphanet:71528/attributed", source="Orphanet:71528/ntbt", source="Orphanet:71528"} xref: MESH:C563423 {source="MONDO:equivalentTo"} -xref: OMIM:600955 {source="MONDO:equivalentTo", source="ORDO:71528/e", source="Orphanet:71528"} +xref: OMIM:600955 {source="Orphanet:71528/e", source="MONDO:equivalentTo", source="Orphanet:71528"} xref: Orphanet:71528 {source="MONDO:equivalentTo", source="OMIM:600955"} xref: SCTID:722053001 {source="MONDO:equivalentTo"} xref: UMLS:C1833053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600955"} @@ -214830,10 +214788,10 @@ synonym: "Unna-Thost syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539] xref: DOID:0050428 {source="MONDO:equivalentTo", source="EFO:1000743"} xref: EFO:1000743 {source="MONDO:equivalentTo"} xref: GARD:0005186 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="ORDO:2337/attributed", source="ORDO:2337/ntbt", source="Orphanet:2337"} +xref: ICD10CM:Q82.8 {source="Orphanet:2337", source="Orphanet:2337/attributed", source="Orphanet:2337/ntbt"} xref: MESH:D015776 {source="DOID:0050428"} xref: NCIT:C3147 {source="DOID:0050428"} -xref: OMIM:600231 {source="Orphanet:2337", source="MONDO:superClassOf", source="ORDO:2337/e"} +xref: OMIM:600231 {source="Orphanet:2337", source="MONDO:superClassOf", source="Orphanet:2337/e"} xref: OMIM:600962 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="DOID:0050428", source="Orphanet:530838"} xref: OMIM:613000 {source="MONDO:superClassOf", source="DOID:0050428"} xref: OMIM:615735 {source="MONDO:superClassOf", source="DOID:0050428"} @@ -214911,7 +214869,7 @@ xref: OMIM:600969 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="MONDO:subClassOf", source="OMIM:600969"} xref: UMLS:C1832998 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600969"} xref: UMLS:C3152083 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600969"} -is_a: MONDO:0015627 {source="ORDO:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly +is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600969", source="indirect"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2219 ! COL9A3 @@ -214929,8 +214887,7 @@ synonym: "autosomal recessive deafness 6" NARROW [DOID:0110512] synonym: "autosomal recessive nonsyndromic deafness 6" NARROW CLINGEN_PREFERRED [OMIM:600971] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMIE" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 6" NARROW [DOID:0110512, MONDORULE:1] -synonym: "deafness, autosomal recessive 6" NARROW [OMIM:600971, OMIM:genemap2] -synonym: "deafness, autosomal recessive 6" NARROW [MONDO:Lexical, OMIM:600971] +synonym: "deafness, autosomal recessive 6" NARROW [MONDO:Lexical, OMIM:600971, OMIM:genemap2] synonym: "deafness, autosomal recessive type 6" NARROW [MONDORULE:1, OMIM:600971] synonym: "DFNB6" NARROW ABBREVIATION [DOID:0110512, MONDO:Lexical, OMIM:600971] synonym: "neurosensory nonsyndromic recessive deafness 6" NARROW [OMIM:600971] @@ -214964,12 +214921,12 @@ synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical, OMIM:600972] synonym: "Fraccaro achondrogenesis" RELATED [GARD:0000460] xref: DOID:0080055 {source="MONDO:equivalentTo"} xref: GARD:0000460 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93298", source="ORDO:93298/attributed", source="ORDO:93298/ntbt"} -xref: MESH:C536016 {source="ORDO:93298/e", source="Orphanet:93298"} -xref: OMIM:600972 {source="ORDO:93298/e", source="DOID:0080055", source="Orphanet:93298", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93298", source="Orphanet:93298/attributed", source="Orphanet:93298/ntbt"} +xref: MESH:C536016 {source="Orphanet:93298", source="Orphanet:93298/e"} +xref: OMIM:600972 {source="DOID:0080055", source="Orphanet:93298", source="MONDO:equivalentTo", source="Orphanet:93298/e"} xref: Orphanet:932 {source="MONDO:subClassOf", source="OMIM:600972"} xref: Orphanet:93298 {source="OMIM:600972", source="MONDO:equivalentTo"} -xref: UMLS:C0265274 {source="ORDO:93298/e", source="Orphanet:93298", source="OMIM:600972", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265274 {source="Orphanet:93298", source="OMIM:600972", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93298/e"} is_a: MONDO:0019648 {source="DC-OMIM:600972", source="DOID:0080055", source="OMIM:600972", source="Orphanet:93298"} ! achondrogenesis is_a: MONDO:0019688 {source="Orphanet:93298"} ! sulfation-related bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10994 {source="mim2gene_medgen"} ! SLC26A2 @@ -214986,8 +214943,7 @@ synonym: "autosomal recessive nonsyndromic deafness 7" NARROW CLINGEN_PREFERRED synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 7" NARROW [DOID:0110520, MONDORULE:1] synonym: "deafness, autosomal recessive 11" NARROW [OMIM:600974] -synonym: "deafness, autosomal recessive 7" NARROW [MONDO:Lexical, OMIM:600974] -synonym: "deafness, autosomal recessive 7" NARROW [OMIM:600974, OMIM:genemap2] +synonym: "deafness, autosomal recessive 7" NARROW [MONDO:Lexical, OMIM:600974, OMIM:genemap2] synonym: "deafness, autosomal recessive type 7" NARROW [MONDORULE:1, OMIM:600974] synonym: "DFNB11" NARROW ABBREVIATION [DOID:0110520] synonym: "DFNB7" NARROW ABBREVIATION [DOID:0110520, MONDO:Lexical, OMIM:600974] @@ -215023,7 +214979,7 @@ xref: OMIM:600975 {source="MONDO:equivalentTo", source="GARD:0002490"} xref: Orphanet:156005 {source="MONDO:subClassOf", source="GARD:0002490"} xref: Orphanet:98976 {source="MONDO:subClassOf", source="OMIM:600975"} xref: UMLS:C1832977 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600975"} -is_a: MONDO:0020366 {source="ORDO:98976/btnt"} ! congenital glaucoma +is_a: MONDO:0020366 {source="Orphanet:98976/btnt"} ! congenital glaucoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b xsd:anyURI {source="GARD:0002490"} [Term] @@ -215071,7 +215027,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1849"} synonym: "infundibulopelvic dysgenesis" RELATED [OMIM:600989] xref: GARD:0003005 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C535528 {source="MONDO:equivalentTo"} -xref: OMIM:600989 {source="MONDO:equivalentTo", source="ORDO:1849/e", source="Orphanet:1849"} +xref: OMIM:600989 {source="Orphanet:1849/e", source="MONDO:equivalentTo", source="Orphanet:1849"} xref: Orphanet:1849 {source="MONDO:equivalentTo", source="OMIM:600989"} xref: SCTID:725905005 {source="MONDO:equivalentTo"} xref: UMLS:C1832949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600989", source="Orphanet:1849"} @@ -215089,13 +215045,13 @@ synonym: "hydrocephalus, skeletal anomalies, and mental disturbance" RELATED [GA synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [OMIM:600991] synonym: "Waaler-Aarskog syndrome" EXACT [Orphanet:2180] xref: GARD:0005518 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2180/attributed", source="ORDO:2180/ntbt", source="Orphanet:2180"} +xref: ICD10CM:Q87.8 {source="Orphanet:2180", source="Orphanet:2180/attributed", source="Orphanet:2180/ntbt"} xref: MESH:C536461 {source="MONDO:equivalentTo"} -xref: OMIM:600991 {source="MONDO:equivalentTo", source="Orphanet:2180", source="ORDO:2180/e"} +xref: OMIM:600991 {source="MONDO:equivalentTo", source="Orphanet:2180", source="Orphanet:2180/e"} xref: Orphanet:2180 {source="OMIM:600991", source="MONDO:equivalentTo"} xref: SCTID:721229003 {source="MONDO:equivalentTo"} xref: UMLS:C1832948 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931197 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2180", source="ORDO:2180/e"} +xref: UMLS:C2931197 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2180", source="Orphanet:2180/e"} xref: UMLS:C3551260 {source="OMIM:600991", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015160 {source="Orphanet:2180", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021147 {source="Orphanet:2180", source="Orphanet:2180/inferred"} ! disorder of development or morphogenesis @@ -215111,8 +215067,7 @@ synonym: "autosomal dominant deafness 5" NARROW [DOID:0110575] synonym: "autosomal dominant nonsyndromic deafness 5" NARROW [OMIM:600994] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GSDME" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 5" NARROW [DOID:0110575, MONDORULE:1] -synonym: "deafness, autosomal dominant 5" NARROW [OMIM:600994, OMIM:genemap2] -synonym: "deafness, autosomal dominant 5" NARROW [MONDO:Lexical, OMIM:600994] +synonym: "deafness, autosomal dominant 5" NARROW [MONDO:Lexical, OMIM:600994, OMIM:genemap2] synonym: "deafness, autosomal dominant type 5" NARROW [MONDORULE:1, OMIM:600994] synonym: "DFNA5" NARROW ABBREVIATION [DOID:0110575, MONDO:Lexical, OMIM:600994] synonym: "GSDME autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -215170,7 +215125,7 @@ xref: MESH:C563409 {source="MONDO:equivalentTo"} xref: OMIM:600996 {source="DOID:0110071", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:600996"} xref: UMLS:C1832931 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600996"} -is_a: MONDO:0016342 {source="DOID:0110071", source="MESH:C563409", source="MONDO:Redundant", source="OMIM:600996", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110071", source="MESH:C563409", source="MONDO:Redundant", source="OMIM:600996", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10484 ! RYR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10484 {source="mim2gene_medgen"} ! RYR2 @@ -215191,9 +215146,9 @@ synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MOND synonym: "KRT14-related autosomal recessive EBS" EXACT [Orphanet:89838] synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [Orphanet:89838] synonym: "KRT14-related epidermolysis bullosa simplex" EXACT [Orphanet:89838] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:89838/attributed", source="ORDO:89838/ntbt", source="Orphanet:89838"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:89838", source="Orphanet:89838/attributed", source="Orphanet:89838/ntbt"} xref: MESH:C563408 {source="MONDO:equivalentTo"} -xref: OMIM:601001 {source="ORDO:89838/e", source="MONDO:equivalentTo", source="Orphanet:89838"} +xref: OMIM:601001 {source="MONDO:equivalentTo", source="Orphanet:89838", source="Orphanet:89838/e"} xref: Orphanet:89838 {source="OMIM:601001", source="MONDO:equivalentTo"} xref: UMLS:C1832926 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3715082 {source="OMIM:601001", source="MONDO:notFoundInDiseaseSubset"} @@ -215212,13 +215167,13 @@ synonym: "Brody myopathy" EXACT CLINGEN_PREFERRED [OMIM:601003] synonym: "sarcoplasmic reticulum -Ca2+ATPase deficiency" RELATED [GARD:0009158] xref: DOID:0050692 {source="MONDO:equivalentTo"} xref: GARD:0009158 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="Orphanet:53347", source="ORDO:53347/attributed", source="ORDO:53347/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:53347/attributed", source="Orphanet:53347/ntbt", source="Orphanet:53347"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536607 {source="ORDO:53347/e", source="Orphanet:53347", source="MONDO:equivalentTo"} -xref: OMIM:601003 {source="ORDO:53347/e", source="Orphanet:53347", source="MONDO:equivalentTo", source="DOID:0050692"} +xref: MESH:C536607 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e"} +xref: OMIM:601003 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e", source="DOID:0050692"} xref: Orphanet:53347 {source="OMIM:601003", source="MONDO:equivalentTo"} xref: SCTID:703530005 {source="MONDO:equivalentTo"} -xref: UMLS:C1832918 {source="ORDO:53347/e", source="OMIM:601003", source="NCBI:mim2gene_medline", source="Orphanet:53347", source="MONDO:equivalentTo"} +xref: UMLS:C1832918 {source="OMIM:601003", source="NCBI:mim2gene_medline", source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e"} is_a: MONDO:0016110 {source="Orphanet:53347"} ! non-dystrophic myopathy is_a: MONDO:0016199 {source="Orphanet:53347"} ! qualitative or quantitative defects of protein SERCA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/811 {source="mim2gene_medgen"} ! ATP2A1 @@ -215251,13 +215206,13 @@ synonym: "TS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601005] xref: DOID:0060173 {source="MONDO:equivalentTo"} xref: GARD:0009294 {source="MONDO:equivalentTo"} xref: ICD10CM:G72.3 {source="DOID:0060173"} -xref: ICD10CM:I45.8 {source="ORDO:65283/attributed", source="ORDO:65283/ntbt", source="Orphanet:65283"} -xref: MESH:C536962 {source="MONDO:equivalentTo", source="ORDO:65283/e", source="Orphanet:65283"} +xref: ICD10CM:I45.8 {source="Orphanet:65283/attributed", source="Orphanet:65283/ntbt", source="Orphanet:65283"} +xref: MESH:C536962 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283"} xref: NCIT:C142894 {source="MONDO:equivalentTo"} -xref: OMIM:601005 {source="MONDO:equivalentTo", source="ORDO:65283/e", source="Orphanet:65283", source="DOID:0060173"} +xref: OMIM:601005 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283", source="DOID:0060173"} xref: Orphanet:65283 {source="OMIM:601005", source="MONDO:equivalentTo", source="DOID:0060173"} xref: Orphanet:768 {source="MONDO:subClassOf", source="OMIM:601005", source="DOID:0060173"} -xref: UMLS:C1832916 {source="OMIM:601005", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:65283/e", source="Orphanet:65283"} +xref: UMLS:C1832916 {source="Orphanet:65283/e", source="OMIM:601005", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:65283"} is_a: MONDO:0000426 {source="DOID:0060173", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002442 {source="MESH:C536962", source="MONDO:Redundant", source="NCIT:C142894", source="OMIM:601005", source="indirect"} ! long QT syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1390 {source="mim2gene_medgen"} ! CACNA1C @@ -215296,13 +215251,13 @@ synonym: "tibia absent polydactyly arachnoid cyst" RELATED [GARD:0005210] synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [OMIM:601027] synonym: "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210] xref: GARD:0005210 {source="MONDO:equivalentTo"} -xref: MESH:C536918 {source="ORDO:3328/e", source="Orphanet:3328"} +xref: MESH:C536918 {source="Orphanet:3328", source="Orphanet:3328/e"} xref: MESH:C563403 {source="MONDO:equivalentTo"} -xref: OMIM:601027 {source="MONDO:equivalentTo", source="ORDO:3328/e", source="Orphanet:3328", source="GARD:0005210"} +xref: OMIM:601027 {source="MONDO:equivalentTo", source="Orphanet:3328", source="GARD:0005210", source="Orphanet:3328/e"} xref: Orphanet:3328 {source="OMIM:601027", source="MONDO:equivalentTo", source="GARD:0005210"} xref: SCTID:733068001 {source="MONDO:equivalentTo"} xref: UMLS:C1832859 {source="OMIM:601027", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931368 {source="ORDO:3328/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3328"} +xref: UMLS:C2931368 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3328", source="Orphanet:3328/e"} is_a: MONDO:0015161 {source="Orphanet:3328", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation @@ -215335,9 +215290,9 @@ synonym: "DYT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601042, Orphanet:53583] synonym: "episodic choreoathetosis/spasticity" EXACT [Orphanet:53583] synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [Orphanet:53583] xref: DOID:0090044 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.8 {source="ORDO:53583/attributed", source="ORDO:53583/ntbt", source="DOID:0090044", source="Orphanet:53583"} +xref: ICD10CM:G24.8 {source="DOID:0090044", source="Orphanet:53583/attributed", source="Orphanet:53583/ntbt", source="Orphanet:53583"} xref: MESH:C563401 {source="MONDO:equivalentTo"} -xref: OMIM:601042 {source="DOID:0090044", source="MONDO:equivalentTo", source="ORDO:53583/e", source="Orphanet:53583"} +xref: OMIM:601042 {source="DOID:0090044", source="Orphanet:53583/e", source="MONDO:equivalentTo", source="Orphanet:53583"} xref: Orphanet:53583 {source="DOID:0090044", source="MONDO:equivalentTo", source="OMIM:601042"} xref: SCTID:715564000 {source="MONDO:equivalentTo"} xref: UMLS:C1832855 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601042", source="Orphanet:53583"} @@ -215400,8 +215355,7 @@ synonym: "autosomal recessive deafness 9" NARROW [DOID:0110535] synonym: "autosomal recessive nonsyndromic deafness 9" NARROW CLINGEN_PREFERRED [OMIM:601071] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOF" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 9" NARROW [DOID:0110535, MONDORULE:1] -synonym: "deafness, autosomal recessive 9" NARROW [OMIM:601071, OMIM:genemap2] -synonym: "deafness, autosomal recessive 9" NARROW [MONDO:Lexical, OMIM:601071] +synonym: "deafness, autosomal recessive 9" NARROW [MONDO:Lexical, OMIM:601071, OMIM:genemap2] synonym: "deafness, autosomal recessive type 9" NARROW [MONDORULE:1, OMIM:601071] synonym: "DFNB9" NARROW ABBREVIATION [DOID:0110535, MONDO:Lexical, OMIM:601071] synonym: "neurosensory nonsyndromic recessive deafness 9" NARROW [DOID:0110535, OMIM:601071] @@ -215456,9 +215410,9 @@ synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATE synonym: "aplasia cutis myopia" EXACT [MONDO:0021910] synonym: "Gershoni-Baruch-Leibo syndrome" EXACT [Orphanet:1117] xref: GARD:0000756 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.8 {source="ORDO:1117/attributed", source="ORDO:1117/ntbt", source="Orphanet:1117"} +xref: ICD10CM:Q84.8 {source="Orphanet:1117", source="Orphanet:1117/attributed", source="Orphanet:1117/ntbt"} xref: MESH:C563394 {source="MONDO:equivalentTo"} -xref: OMIM:601075 {source="MONDO:equivalentTo", source="ORDO:1117/e", source="Orphanet:1117"} +xref: OMIM:601075 {source="MONDO:equivalentTo", source="Orphanet:1117", source="Orphanet:1117/e"} xref: Orphanet:1117 {source="MONDO:equivalentTo", source="OMIM:601075"} xref: SCTID:720499004 {source="MONDO:equivalentTo"} xref: UMLS:C1832826 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1117", source="OMIM:601075"} @@ -215485,12 +215439,12 @@ synonym: "MURCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601076] synonym: "MURCS association" EXACT [Orphanet:2578] synonym: "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578] xref: GARD:0005513 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2578/attributed", source="ORDO:2578/ntbt", source="Orphanet:2578"} -xref: OMIM:601076 {source="ORDO:2578/e", source="MONDO:equivalentTo", source="Orphanet:2578"} +xref: ICD10CM:Q87.8 {source="Orphanet:2578", source="Orphanet:2578/attributed", source="Orphanet:2578/ntbt"} +xref: OMIM:601076 {source="MONDO:equivalentTo", source="Orphanet:2578", source="Orphanet:2578/e"} xref: Orphanet:2578 {source="MONDO:equivalentTo", source="OMIM:601076"} xref: Orphanet:3109 {source="MONDO:subClassOf", source="OMIM:601076"} xref: SCTID:717705004 {source="MONDO:equivalentTo"} -xref: UMLS:C1832817 {source="ORDO:2578/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2578", source="OMIM:601076"} +xref: UMLS:C1832817 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2578", source="Orphanet:2578/e", source="OMIM:601076"} is_a: MONDO:0015246 {source="Orphanet:2578"} ! syndromic anorectal malformation is_a: MONDO:0017771 {source="Orphanet:2578"} ! Mayer-Rokitansky-Kuster-Hauser syndrome relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome @@ -215519,7 +215473,7 @@ xref: OMIM:601086 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="MONDO:subClassOf", source="OMIM:601086"} xref: UMLS:C1832813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601086"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0018677 {source="ORDO:450/btnt"} ! visceral heterotaxy +is_a: MONDO:0018677 {source="Orphanet:450/btnt"} ! visceral heterotaxy property_value: confidence "2.249999999999999" xsd:double [Term] @@ -215556,9 +215510,9 @@ synonym: "craniofacial digital genital anomalies" RELATED [GARD:0002601] synonym: "Harrod Doman Keele syndrome" RELATED [GARD:0002601] synonym: "Harrod syndrome" EXACT [OMIM:601095] xref: GARD:0002601 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2115", source="ORDO:2115/attributed", source="ORDO:2115/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2115/attributed", source="Orphanet:2115/ntbt", source="Orphanet:2115"} xref: MESH:C535635 {source="MONDO:equivalentTo"} -xref: OMIM:601095 {source="Orphanet:2115", source="ORDO:2115/e", source="MONDO:equivalentTo"} +xref: OMIM:601095 {source="Orphanet:2115", source="MONDO:equivalentTo", source="Orphanet:2115/e"} xref: Orphanet:2115 {source="MONDO:equivalentTo", source="OMIM:601095"} xref: SCTID:716089008 {source="MONDO:equivalentTo"} xref: UMLS:C0795970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601095"} @@ -215578,12 +215532,12 @@ synonym: "SEMD, micromelic" RELATED [OMIM:601096] synonym: "spondyloepimetaphyseal dysplasia micromelic" RELATED [GARD:0003642] synonym: "spondyloepimetaphyseal dysplasia, micromelic" RELATED [OMIM:601096] xref: GARD:0003642 {source="MONDO:obsoleteEquivalent", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="Orphanet:2641", source="ORDO:2641/attributed", source="ORDO:2641/ntbt"} -xref: MESH:C537556 {source="Orphanet:2641", source="ORDO:2641/e", source="MONDO:obsoleteEquivalent"} -xref: OMIM:601096 {source="Orphanet:2641", source="ORDO:2641/e", source="MONDO:obsoleteEquivalent"} +xref: ICD10CM:Q77.8 {source="Orphanet:2641", source="Orphanet:2641/attributed", source="Orphanet:2641/ntbt"} +xref: MESH:C537556 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"} +xref: OMIM:601096 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"} xref: Orphanet:2641 {source="MONDO:obsoleteEquivalent", source="OMIM:601096"} xref: SCTID:715479009 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C1832800 {source="Orphanet:2641", source="ORDO:2641/e", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:601096"} +xref: UMLS:C1832800 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:2641/e", source="OMIM:601096"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3637 property_value: confidence "3.533333333333334" xsd:double property_value: IAO:0000231 "out of scope" xsd:string @@ -215613,11 +215567,11 @@ synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151] synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098] xref: DOID:0110151 {source="MONDO:equivalentTo"} xref: GARD:0001247 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:101083/attributed", source="ORDO:101083/ntbt", source="DOID:0110151", source="Orphanet:101083"} -xref: MESH:C537984 {source="MONDO:equivalentTo", source="Orphanet:101083", source="ORDO:101083/e"} -xref: OMIM:601098 {source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083", source="ORDO:101083/e"} +xref: ICD10CM:G60.0 {source="DOID:0110151", source="Orphanet:101083", source="Orphanet:101083/attributed", source="Orphanet:101083/ntbt"} +xref: MESH:C537984 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="Orphanet:101083"} +xref: OMIM:601098 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083"} xref: Orphanet:101083 {source="MONDO:equivalentTo", source="DOID:0110151", source="OMIM:601098"} -xref: UMLS:C0270913 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101083", source="ORDO:101083/e", source="OMIM:601098"} +xref: UMLS:C0270913 {source="Orphanet:101083/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101083", source="OMIM:601098"} is_a: MONDO:0015626 {source="DOID:0110151/inferred", source="MESH:C537984", source="MONDO:Redundant", source="OMIM:601098", source="Orphanet:101083/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019011 {source="DOID:0110151", source="MONDO:Redundant", source="Orphanet:101083"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 @@ -215660,10 +215614,10 @@ synonym: "Steele-Richardson-Olszewski syndrome" EXACT [OMIM:601104] synonym: "supranuclear palsy, progressive" EXACT [OMIM:601104, OMIM:genemap2] synonym: "supranuclear palsy, progressive, 1" EXACT [MONDO:Lexical, OMIM:601104] synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1, OMIM:601104] -xref: ICD10CM:G23.1 {source="ORDO:240071/inclusion", source="ORDO:240071/ntbt", source="Orphanet:240071"} -xref: OMIM:601104 {source="MONDO:equivalentTo", source="ORDO:240071/e", source="Orphanet:240071"} -xref: OMIM:609454 {source="MONDO:superClassOf", source="ORDO:240071/btnt", source="Orphanet:240071"} -xref: OMIM:610898 {source="MONDO:superClassOf", source="ORDO:240071/btnt", source="Orphanet:240071"} +xref: ICD10CM:G23.1 {source="Orphanet:240071/ntbt", source="Orphanet:240071/inclusion", source="Orphanet:240071"} +xref: OMIM:601104 {source="Orphanet:240071/e", source="MONDO:equivalentTo", source="Orphanet:240071"} +xref: OMIM:609454 {source="Orphanet:240071/btnt", source="MONDO:superClassOf", source="Orphanet:240071"} +xref: OMIM:610898 {source="Orphanet:240071/btnt", source="MONDO:superClassOf", source="Orphanet:240071"} xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"} xref: Orphanet:683 {source="MONDO:subClassOf", source="OMIM:601104"} xref: UMLS:C0038868 {source="MONDO:subClassOf", source="OMIM:601104", source="NCBI:mim2gene_medline", source="Orphanet:240071"} @@ -215698,10 +215652,10 @@ synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical, synonym: "mannosyltransferase 6 deficiency" EXACT [Orphanet:79321] xref: DOID:0080556 {source="MONDO:equivalentTo"} xref: GARD:0009827 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79321/attributed", source="ORDO:79321/ntbt", source="Orphanet:79321"} +xref: ICD10CM:E77.8 {source="Orphanet:79321/attributed", source="Orphanet:79321/ntbt", source="Orphanet:79321"} xref: MESH:C535742 {source="MONDO:equivalentTo"} xref: NCIT:C126870 {source="MONDO:equivalentTo"} -xref: OMIM:601110 {source="MONDO:equivalentTo", source="ORDO:79321/e", source="Orphanet:79321"} +xref: OMIM:601110 {source="Orphanet:79321/e", source="MONDO:equivalentTo", source="Orphanet:79321"} xref: Orphanet:79321 {source="OMIM:601110", source="MONDO:equivalentTo"} xref: SCTID:720976009 {source="MONDO:equivalentTo"} xref: UMLS:C1832736 {source="OMIM:601110", source="NCBI:mim2gene_medline", source="NCIT:C126870", source="MONDO:equivalentTo", source="Orphanet:79321"} @@ -215722,9 +215676,9 @@ synonym: "Bindewald Ulmer Muller syndrome" RELATED [GARD:0000893] synonym: "Bindewald-Ulmer-Müller syndrome" EXACT [Orphanet:3304] synonym: "FALLOT complex with severe mental and growth retardation" RELATED [OMIM:601127] xref: GARD:0000893 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3304/attributed", source="ORDO:3304/ntbt", source="Orphanet:3304"} +xref: ICD10CM:Q87.8 {source="Orphanet:3304", source="Orphanet:3304/attributed", source="Orphanet:3304/ntbt"} xref: MESH:C536608 {source="MONDO:equivalentTo"} -xref: OMIM:601127 {source="ORDO:3304/e", source="MONDO:equivalentTo", source="Orphanet:3304"} +xref: OMIM:601127 {source="MONDO:equivalentTo", source="Orphanet:3304", source="Orphanet:3304/e"} xref: Orphanet:3304 {source="MONDO:equivalentTo", source="OMIM:601127"} xref: SCTID:723336008 {source="MONDO:equivalentTo"} xref: UMLS:C1832735 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601127", source="Orphanet:3304"} @@ -215837,9 +215791,9 @@ def: "This syndrome is characterised by severe microcephaly, agyria, agenesis of subset: ordo_malformation_syndrome {source="Orphanet:86822"} synonym: "lissencephaly type 3 and bone dysplasia" RELATED [OMIM:601160] synonym: "lissencephaly type III and bone dysplasia" RELATED [OMIM:601160] -xref: ICD10CM:Q04.3 {source="Orphanet:86822", source="ORDO:86822/attributed", source="ORDO:86822/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:86822", source="Orphanet:86822/attributed", source="Orphanet:86822/ntbt"} xref: MESH:C563383 {source="MONDO:equivalentTo"} -xref: OMIM:601160 {source="ORDO:86822/e", source="MONDO:equivalentTo", source="Orphanet:86822"} +xref: OMIM:601160 {source="MONDO:equivalentTo", source="Orphanet:86822", source="Orphanet:86822/e"} xref: Orphanet:86822 {source="MONDO:equivalentTo", source="OMIM:601160"} xref: SCTID:718720007 {source="MONDO:equivalentTo"} xref: UMLS:C1832678 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601160"} @@ -215873,9 +215827,9 @@ synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndro synonym: "spastic paraplegia 9A, autosomal dominant" RELATED [MONDO:Lexical, OMIM:601162] synonym: "SPG9A" EXACT ABBREVIATION [DOID:0110824, MONDO:Lexical, OMIM:601162] xref: DOID:0110824 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:447753", source="DOID:0110824", source="ORDO:447753/attributed", source="ORDO:447753/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:447753", source="DOID:0110824", source="Orphanet:447753/attributed", source="Orphanet:447753/ntbt"} xref: MESH:C536868 {source="MONDO:equivalentTo"} -xref: OMIM:601162 {source="Orphanet:447753", source="DOID:0110824", source="MONDO:equivalentTo", source="ORDO:447753/e"} +xref: OMIM:601162 {source="Orphanet:447753", source="DOID:0110824", source="MONDO:equivalentTo", source="Orphanet:447753/e"} xref: Orphanet:100990 {source="MONDO:subClassOf", source="DOID:0110824", source="OMIM:601162"} xref: Orphanet:447753 {source="DOID:0110824", source="MONDO:equivalentTo"} xref: UMLS:C1832669 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601162"} @@ -215897,9 +215851,9 @@ synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of synonym: "froster syndrome" RELATED [OMIM:601163] synonym: "froster-Huch syndrome" EXACT [Orphanet:2141] xref: GARD:0002397 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2141/attributed", source="ORDO:2141/ntbt", source="Orphanet:2141"} +xref: ICD10CM:Q87.8 {source="Orphanet:2141/attributed", source="Orphanet:2141/ntbt", source="Orphanet:2141"} xref: MESH:C563380 {source="MONDO:equivalentTo"} -xref: OMIM:601163 {source="GARD:0002397", source="MONDO:equivalentTo", source="ORDO:2141/e", source="Orphanet:2141"} +xref: OMIM:601163 {source="GARD:0002397", source="Orphanet:2141/e", source="MONDO:equivalentTo", source="Orphanet:2141"} xref: Orphanet:2141 {source="GARD:0002397", source="MONDO:equivalentTo", source="OMIM:601163"} xref: SCTID:721095007 {source="MONDO:equivalentTo"} xref: UMLS:C1832668 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601163", source="Orphanet:2141"} @@ -215923,13 +215877,13 @@ synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, a synonym: "McPherson Clemens syndrome" RELATED [GARD:0003430] synonym: "McPherson-Clemens syndrome" EXACT [Orphanet:2001] xref: GARD:0003430 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2001", source="ORDO:2001/attributed", source="ORDO:2001/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2001", source="Orphanet:2001/attributed", source="Orphanet:2001/ntbt"} xref: MESH:C538160 {source="MONDO:equivalentTo"} -xref: OMIM:601165 {source="Orphanet:2001", source="ORDO:2001/e", source="MONDO:equivalentTo"} +xref: OMIM:601165 {source="Orphanet:2001", source="MONDO:equivalentTo", source="Orphanet:2001/e"} xref: Orphanet:2001 {source="OMIM:601165", source="MONDO:equivalentTo"} xref: SCTID:719456001 {source="MONDO:equivalentTo"} xref: UMLS:C1832666 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931750 {source="Orphanet:2001", source="OMIM:601165", source="ORDO:2001/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931750 {source="Orphanet:2001", source="OMIM:601165", source="MONDO:equivalentTo", source="Orphanet:2001/e"} is_a: MONDO:0015161 {source="Orphanet:2001", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:2001"} ! orofacial clefting syndrome is_a: MONDO:0043008 {source="Orphanet:2001"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -215969,14 +215923,14 @@ synonym: "syndromic microphthalmia type 9" EXACT [Orphanet:2470] xref: DOID:0050819 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111807 {source="MONDO:equivalentTo"} xref: GARD:0000713 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q11.2 {source="Orphanet:2470", source="ORDO:2470/attributed", source="ORDO:2470/ntbt"} +xref: ICD10CM:Q11.2 {source="Orphanet:2470/attributed", source="Orphanet:2470/ntbt", source="Orphanet:2470"} xref: MESH:C537768 {source="MONDO:equivalentTo"} -xref: OMIM:601186 {source="DOID:0050819", source="MONDO:equivalentTo", source="Orphanet:2470", source="ORDO:2470/e"} -xref: OMIM:615524 {source="MONDO:superClassOf", source="Orphanet:2470", source="ORDO:2470/btnt"} +xref: OMIM:601186 {source="DOID:0050819", source="Orphanet:2470/e", source="MONDO:equivalentTo", source="Orphanet:2470"} +xref: OMIM:615524 {source="MONDO:superClassOf", source="Orphanet:2470/btnt", source="Orphanet:2470"} xref: Orphanet:2470 {source="MONDO:equivalentTo", source="OMIM:601186"} xref: Orphanet:98938 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:601186"} xref: SCTID:722458000 {source="MONDO:equivalentTo"} -xref: UMLS:C1832661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2470", source="ORDO:2470/e", source="OMIM:601186"} +xref: UMLS:C1832661 {source="Orphanet:2470/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2470", source="OMIM:601186"} xref: UMLS:C3540845 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:601186"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2470", source="Orphanet:2470/inferred"} ! respiratory system disorder is_a: MONDO:0015161 {source="Orphanet:2470", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -216003,9 +215957,9 @@ synonym: "Gurrieri-Sammito-Bellussi syndrome" EXACT [Orphanet:1858] synonym: "intellectual disability, epilepsy, short stature and skeletal dysplasia" RELATED [GARD:0000350] synonym: "mental retardation, epilepsy, short stature and skeletal dysplasia" RELATED DEPRECATED [GARD:0000350] xref: GARD:0000350 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.5 {source="ORDO:1858/attributed", source="ORDO:1858/ntbt", source="Orphanet:1858"} +xref: ICD10CM:Q87.5 {source="Orphanet:1858/attributed", source="Orphanet:1858/ntbt", source="Orphanet:1858"} xref: MESH:C537625 {source="MONDO:equivalentTo"} -xref: OMIM:601187 {source="MONDO:equivalentTo", source="ORDO:1858/e", source="Orphanet:1858"} +xref: OMIM:601187 {source="Orphanet:1858/e", source="MONDO:equivalentTo", source="Orphanet:1858"} xref: Orphanet:1858 {source="OMIM:601187", source="MONDO:equivalentTo"} xref: SCTID:715428003 {source="MONDO:equivalentTo"} xref: UMLS:C0796046 {source="OMIM:601187", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1858"} @@ -216026,9 +215980,9 @@ synonym: "hereditary iron overload and African Americans" RELATED [GARD:0008495] synonym: "iron overload in Africa" EXACT [DOID:0111033, OMIM:601195] xref: DOID:0111033 {source="MONDO:equivalentTo"} xref: GARD:0008495 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="ORDO:139507/attributed", source="ORDO:139507/ntbt", source="Orphanet:139507", source="DOID:0111033"} +xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/attributed", source="Orphanet:139507/ntbt"} xref: MESH:C537904 {source="MONDO:equivalentTo"} -xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="ORDO:139507/e", source="DOID:0111033"} +xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/e"} xref: Orphanet:139507 {source="MONDO:equivalentTo", source="DOID:0111033", source="OMIM:601195"} xref: SCTID:66576001 {source="MONDO:equivalentTo"} xref: UMLS:C0268063 {source="NCBI:mim2gene_medline", source="Orphanet:139507", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601195"} @@ -216083,21 +216037,21 @@ synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT xref: DOID:4769 {source="MONDO:equivalentTo"} xref: EFO:0009052 {source="MONDO:equivalentTo"} xref: GARD:0008757 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C34.1 {source="Orphanet:64742", source="ORDO:64742/btnt"} -xref: ICD10CM:C34.2 {source="Orphanet:64742", source="ORDO:64742/btnt"} -xref: ICD10CM:C34.3 {source="Orphanet:64742", source="ORDO:64742/btnt"} -xref: ICD10CM:C34.9 {source="Orphanet:64742", source="ORDO:64742/btnt"} +xref: ICD10CM:C34.1 {source="Orphanet:64742", source="Orphanet:64742/btnt"} +xref: ICD10CM:C34.2 {source="Orphanet:64742", source="Orphanet:64742/btnt"} +xref: ICD10CM:C34.3 {source="Orphanet:64742", source="Orphanet:64742/btnt"} +xref: ICD10CM:C34.9 {source="Orphanet:64742", source="Orphanet:64742/btnt"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8973/3 {source="NCIT:C5669"} -xref: MESH:C537516 {source="ORDO:64742/e", source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769"} +xref: MESH:C537516 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"} xref: NCIT:C5669 {source="MONDO:equivalentTo", source="DOID:4769", source="exact-label-match"} -xref: OMIM:601200 {source="ORDO:64742/e", source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769"} +xref: OMIM:601200 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"} xref: ONCOTREE:PPB {source="MONDO:equivalentTo"} xref: Orphanet:284343 {source="OMIM:601200", source="MONDO:superClassOf"} xref: Orphanet:64742 {source="OMIM:601200", source="MONDO:equivalentTo"} xref: SCTID:128763002 {source="DOID:4769"} xref: SCTID:707670009 {source="MONDO:equivalentTo", source="DOID:4769"} -xref: UMLS:C1266144 {source="ORDO:64742/e", source="Orphanet:64742", source="OMIM:601200", source="MONDO:equivalentTo", source="DOID:4769", source="NCIT:C5669"} +xref: UMLS:C1266144 {source="Orphanet:64742", source="OMIM:601200", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e", source="NCIT:C5669"} xref: UMLS:CN072455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005565 {source="DOID:4769/inferred", source="MONDO:Redundant", source="NCIT:C5669", source="indirect"} ! blastoma is_a: MONDO:0005933 {source="DOID:4769", source="MESH:C537516", source="MONDO:Redundant"} ! pulmonary blastoma @@ -216126,9 +216080,9 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:601202"} xref: Orphanet:98988 {source="MONDO:subClassOf", source="OMIM:601202"} xref: UMLS:C1832609 {source="NCBI:mim2gene_medline", source="OMIM:601202", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110257", source="MESH:C537774", source="MONDO:Redundant", source="OMIM:601202", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020373 {source="ORDO:98988/btnt"} ! early-onset anterior polar cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020373 {source="Orphanet:98988/btnt"} ! early-onset anterior polar cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -216168,12 +216122,12 @@ synonym: "woolly hair palmoplantar keratoderma cardiac abnormalities" RELATED [G synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214] xref: DOID:0080551 {source="MONDO:equivalentTo"} xref: GARD:0009795 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:34217", source="ORDO:34217/attributed", source="ORDO:34217/ntbt"} -xref: MESH:C538346 {source="ORDO:34217/e", source="Orphanet:34217", source="MONDO:equivalentTo"} -xref: OMIM:601214 {source="ORDO:34217/e", source="Orphanet:34217", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:34217", source="Orphanet:34217/attributed", source="Orphanet:34217/ntbt"} +xref: MESH:C538346 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} +xref: OMIM:601214 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} xref: Orphanet:34217 {source="OMIM:601214", source="MONDO:equivalentTo"} xref: SCTID:715535009 {source="MONDO:equivalentTo"} -xref: UMLS:C1832600 {source="ORDO:34217/e", source="Orphanet:34217", source="OMIM:601214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1832600 {source="Orphanet:34217", source="OMIM:601214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34217/e"} is_a: MONDO:0016587 {source="MESH:C538346", source="Orphanet:34217", source="linkedlifedata"} ! arrhythmogenic right ventricular cardiomyopathy is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019282 ! syndromic hair shaft abnormality @@ -216203,8 +216157,8 @@ synonym: "Verloes-Bourguignon syndrome" EXACT [Orphanet:2899] xref: DOID:0090143 {source="MONDO:equivalentTo"} xref: GARD:0005478 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:5478 {source="DOID:0090143"} -xref: ICD10CM:Q76.3 {source="DOID:0090143", source="ORDO:2899/attributed", source="ORDO:2899/ntbt", source="Orphanet:2899"} -xref: OMIM:601216 {source="DOID:0090143", source="MONDO:equivalentTo", source="ORDO:2899/e", source="Orphanet:2899"} +xref: ICD10CM:Q76.3 {source="DOID:0090143", source="Orphanet:2899", source="Orphanet:2899/attributed", source="Orphanet:2899/ntbt"} +xref: OMIM:601216 {source="DOID:0090143", source="MONDO:equivalentTo", source="Orphanet:2899", source="Orphanet:2899/e"} xref: Orphanet:2899 {source="DOID:0090143", source="MONDO:equivalentTo", source="OMIM:601216"} xref: SCTID:716195006 {source="MONDO:equivalentTo"} xref: UMLS:C1832594 {source="NCBI:mim2gene_medline", source="OMIM:601216", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2899"} @@ -216221,7 +216175,7 @@ synonym: "alopecia-intellectual disability syndrome with convulsions and hypergo synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED DEPRECATED [OMIM:601217] synonym: "Devriendt-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1014] xref: MESH:C563370 {source="MONDO:equivalentTo"} -xref: OMIM:601217 {source="ORDO:1014/e", source="Orphanet:1014", source="MONDO:equivalentTo"} +xref: OMIM:601217 {source="Orphanet:1014", source="MONDO:equivalentTo", source="Orphanet:1014/e"} xref: Orphanet:1014 {source="MONDO:equivalentTo", source="OMIM:601217"} xref: SCTID:720981000 {source="MONDO:equivalentTo"} xref: UMLS:C1832593 {source="NCBI:mim2gene_medline", source="Orphanet:1014", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601217"} @@ -216242,10 +216196,10 @@ synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MO synonym: "osteoporosis oculocutaneous hypopigmentation syndrome" RELATED [GARD:0000404] xref: GARD:0000404 {source="MONDO:equivalentTo"} xref: MESH:C536062 {source="MONDO:equivalentTo"} -xref: OMIM:601220 {source="Orphanet:2786", source="ORDO:2786/e", source="MONDO:equivalentTo"} +xref: OMIM:601220 {source="Orphanet:2786", source="MONDO:equivalentTo", source="Orphanet:2786/e"} xref: Orphanet:2786 {source="OMIM:601220", source="MONDO:equivalentTo"} xref: SCTID:722113001 {source="MONDO:equivalentTo"} -xref: UMLS:C1832592 {source="OMIM:601220", source="Orphanet:2786", source="NCBI:mim2gene_medline", source="ORDO:2786/e", source="MONDO:equivalentTo"} +xref: UMLS:C1832592 {source="OMIM:601220", source="Orphanet:2786", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2786/e"} is_a: MONDO:0002081 {source="GARD:0000404"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="OMIM:601220"} ! Mendelian disease relationship: disease_has_feature HP:0004349 {source="Orphanet:2786"} ! Reduced bone mineral density @@ -216262,7 +216216,7 @@ xref: OMIM:601223 {source="MONDO:equivalentTo"} xref: Orphanet:2978 {source="MONDO:subClassOf", source="OMIM:601223"} xref: UMLS:C1832589 {source="OMIM:601223", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000858 {source="DC-OMIM:601223"} ! neuronal intestinal dysplasia -is_a: MONDO:0017574 {source="ORDO:2978/btnt"} ! chronic intestinal pseudoobstruction +is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction property_value: confidence "4.13" xsd:double [Term] @@ -216280,14 +216234,14 @@ synonym: "proximal 11p deletion syndrome" EXACT [Orphanet:52022] synonym: "PSS" RELATED ABBREVIATION [OMIM:601224] xref: DOID:0111687 {source="MONDO:equivalentTo"} xref: GARD:0009762 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:52022/attributed", source="ORDO:52022/ntbt", source="Orphanet:52022"} +xref: ICD10CM:Q93.5 {source="Orphanet:52022/attributed", source="Orphanet:52022/ntbt", source="Orphanet:52022"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538356 {source="MONDO:equivalentTo", source="ORDO:52022/e", source="Orphanet:52022"} +xref: MESH:C538356 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"} xref: NCIT:C75456 {source="MONDO:equivalentTo"} -xref: OMIM:601224 {source="MONDO:equivalentTo", source="ORDO:52022/e", source="Orphanet:52022"} +xref: OMIM:601224 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"} xref: Orphanet:52022 {source="OMIM:601224", source="MONDO:equivalentTo"} xref: SCTID:702346005 {source="MONDO:equivalentTo"} -xref: UMLS:C1832588 {source="NCBI:mim2gene_medline", source="OMIM:601224", source="MONDO:equivalentTo", source="NCIT:C75456", source="ORDO:52022/e", source="Orphanet:52022"} +xref: UMLS:C1832588 {source="Orphanet:52022/e", source="NCBI:mim2gene_medline", source="OMIM:601224", source="MONDO:equivalentTo", source="NCIT:C75456", source="Orphanet:52022"} is_a: MONDO:0002254 {source="NCIT:C75456", source="indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:52022", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016893 {source="Orphanet:52022"} ! partial deletion of the short arm of chromosome 11 @@ -216304,10 +216258,10 @@ subset: ordo_disease {source="Orphanet:157794"} synonym: "hereditary mixed polyposis syndrome" EXACT CLINGEN_PREFERRED [] synonym: "HMPS" EXACT ABBREVIATION [Orphanet:157794] xref: DOID:0111684 {source="MONDO:equivalentTo"} -xref: ICD10CM:D12.6 {source="Orphanet:157794", source="ORDO:157794/attributed", source="ORDO:157794/ntbt"} +xref: ICD10CM:D12.6 {source="Orphanet:157794", source="Orphanet:157794/attributed", source="Orphanet:157794/ntbt"} xref: MESH:C563365 {source="MONDO:equivalentTo"} -xref: OMIM:601228 {source="Orphanet:157794", source="ORDO:157794/e", source="MONDO:superClassOf"} -xref: OMIM:610069 {source="Orphanet:157794", source="MONDO:superClassOf", source="ORDO:157794/btnt"} +xref: OMIM:601228 {source="Orphanet:157794", source="Orphanet:157794/e", source="MONDO:superClassOf"} +xref: OMIM:610069 {source="Orphanet:157794", source="Orphanet:157794/btnt", source="MONDO:superClassOf"} xref: OMIMPS:601228 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="MONDO:equivalentTo"} xref: UMLS:CN240759 {source="MONDO:equivalentTo"} @@ -216332,7 +216286,7 @@ xref: OMIM:601230 {source="MONDO:equivalentTo", source="GARD:0001917"} xref: Orphanet:1656 {source="MONDO:subClassOf", source="GARD:0001917", source="OMIM:601230"} xref: UMLS:C0011608 {source="MONDO:subClassOf", source="GARD:0001917"} xref: UMLS:C1832586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601230"} -is_a: MONDO:0015614 {source="MESH:C538218", source="MONDO:Redundant", source="ORDO:1656/btnt"} ! dermatitis herpetiformis +is_a: MONDO:0015614 {source="MESH:C538218", source="MONDO:Redundant", source="Orphanet:1656/btnt"} ! dermatitis herpetiformis intersection_of: MONDO:0015614 ! dermatitis herpetiformis intersection_of: has_modifier MONDO:0021152 ! inherited property_value: confidence "28.000000000000053" xsd:double @@ -216351,9 +216305,9 @@ synonym: "Cayman type cerebellar ataxia" EXACT CLINGEN_PREFERRED [] synonym: "cerebellar ataxia, CAYMAN type" RELATED [OMIM:601238] synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical, OMIM:601238] xref: DOID:0060694 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.0 {source="DOID:0060694", source="Orphanet:94122", source="ORDO:94122/attributed", source="ORDO:94122/ntbt"} +xref: ICD10CM:G11.0 {source="Orphanet:94122/attributed", source="Orphanet:94122/ntbt", source="DOID:0060694", source="Orphanet:94122"} xref: MESH:C563363 {source="DOID:0060694", source="MONDO:equivalentTo"} -xref: OMIM:601238 {source="DOID:0060694", source="Orphanet:94122", source="MONDO:equivalentTo", source="ORDO:94122/e"} +xref: OMIM:601238 {source="DOID:0060694", source="Orphanet:94122", source="MONDO:equivalentTo", source="Orphanet:94122/e"} xref: Orphanet:94122 {source="DOID:0060694", source="MONDO:equivalentTo", source="OMIM:601238"} xref: SCTID:717332007 {source="MONDO:equivalentTo"} xref: UMLS:C1832585 {source="Orphanet:94122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601238"} @@ -216387,7 +216341,7 @@ xref: OMIM:601277 {source="MONDO:equivalentTo", source="DOID:0060712"} xref: Orphanet:313 {source="MONDO:subClassOf", source="OMIM:601277"} xref: UMLS:C1832550 {source="OMIM:601277", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:601277"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0017778 {source="MESH:C537264", source="ORDO:313/btnt"} ! lamellar ichthyosis +is_a: MONDO:0017778 {source="MESH:C537264", source="Orphanet:313/btnt"} ! lamellar ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14637 ! ABCA12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14637 {source="mim2gene_medgen"} ! ABCA12 @@ -216428,9 +216382,9 @@ synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110280 {source="MONDO:equivalentTo"} xref: GARD:0008573 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110280", source="Orphanet:219", source="ORDO:219/ntbt", source="ORDO:219/inclusion"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:219/inclusion", source="DOID:0110280", source="Orphanet:219", source="Orphanet:219/ntbt"} xref: MESH:C535896 {source="MONDO:equivalentTo"} -xref: OMIM:601287 {source="ORDO:219/e", source="DOID:0110280", source="MONDO:equivalentTo", source="Orphanet:219", source="GARD:0008573"} +xref: OMIM:601287 {source="DOID:0110280", source="MONDO:equivalentTo", source="Orphanet:219", source="GARD:0008573", source="Orphanet:219/e"} xref: Orphanet:219 {source="OMIM:601287", source="DOID:0110280", source="MONDO:equivalentTo", source="GARD:0008573"} xref: SCTID:718177001 {source="MONDO:equivalentTo"} xref: UMLS:C1832525 {source="OMIM:601287", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:219", source="GARD:0008573"} @@ -216471,8 +216425,7 @@ synonym: "autosomal dominant deafness 10" NARROW [DOID:0110542] synonym: "autosomal dominant nonsyndromic deafness 10" NARROW CLINGEN_PREFERRED [OMIM:601316] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in EYA4" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 10" NARROW [DOID:0110542, MONDORULE:2] -synonym: "deafness, autosomal dominant 10" NARROW [MONDO:Lexical, OMIM:601316] -synonym: "deafness, autosomal dominant 10" NARROW [OMIM:601316, OMIM:genemap2] +synonym: "deafness, autosomal dominant 10" NARROW [MONDO:Lexical, OMIM:601316, OMIM:genemap2] synonym: "deafness, autosomal dominant type 10" NARROW [MONDORULE:2, OMIM:601316] synonym: "DFNA10" NARROW ABBREVIATION [DOID:0110542, MONDO:Lexical, OMIM:601316] synonym: "EYA4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -216496,8 +216449,7 @@ synonym: "autosomal dominant deafness 11" NARROW [DOID:0110543] synonym: "autosomal dominant nonsyndromic deafness 11" NARROW [OMIM:601317] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 11" NARROW [DOID:0110543, MONDORULE:2] -synonym: "deafness, autosomal dominant 11" NARROW [MONDO:Lexical, OMIM:601317] -synonym: "deafness, autosomal dominant 11" NARROW [OMIM:601317, OMIM:genemap2] +synonym: "deafness, autosomal dominant 11" NARROW [MONDO:Lexical, OMIM:601317, OMIM:genemap2] synonym: "deafness, autosomal dominant type 11" NARROW [MONDORULE:2, OMIM:601317] synonym: "DFNA11" NARROW ABBREVIATION [DOID:0110543, MONDO:Lexical, OMIM:601317] synonym: "MYO7A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -216538,10 +216490,10 @@ synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [OMIM:601319] synonym: "odonto-micronychial dysplasia" RELATED [GARD:0004053] synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319] xref: GARD:0004053 {source="MONDO:equivalentTo"} -xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="ORDO:1811/e"} -xref: OMIM:601319 {source="MONDO:equivalentTo", source="Orphanet:1811", source="ORDO:1811/e"} +xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} +xref: OMIM:601319 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} xref: Orphanet:1811 {source="MONDO:equivalentTo", source="OMIM:601319"} -xref: UMLS:C1832473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1811", source="ORDO:1811/e", source="OMIM:601319"} +xref: UMLS:C1832473 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1811", source="OMIM:601319", source="Orphanet:1811/e"} is_a: MONDO:0019285 {source="Orphanet:1811"} ! syndromic nail anomaly property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia xsd:anyURI {source="GARD:0004053"} @@ -216560,14 +216512,14 @@ synonym: "Noonan neurofibromatosis syndrome" RELATED [GARD:0000372] synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321] xref: DOID:0111683 {source="MONDO:equivalentTo"} xref: GARD:0000372 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:638/attributed", source="ORDO:638/ntbt", source="Orphanet:638"} -xref: MESH:C537393 {source="ORDO:638/e", source="MONDO:equivalentTo", source="Orphanet:638"} -xref: MESH:D009456 {source="ORDO:638/e", source="Orphanet:638", source="MONDO:directSiblingOf"} -xref: OMIM:601321 {source="ORDO:638/e", source="MONDO:equivalentTo", source="Orphanet:638"} +xref: ICD10CM:Q87.1 {source="Orphanet:638", source="Orphanet:638/attributed", source="Orphanet:638/ntbt"} +xref: MESH:C537393 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} +xref: MESH:D009456 {source="Orphanet:638", source="Orphanet:638/e", source="MONDO:directSiblingOf"} +xref: OMIM:601321 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} xref: Orphanet:638 {source="OMIM:601321", source="MONDO:equivalentTo"} xref: SCTID:715344006 {source="MONDO:equivalentTo"} -xref: UMLS:C0553586 {source="ORDO:638/e", source="Orphanet:638", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931482 {source="OMIM:601321", source="NCBI:mim2gene_medline", source="ORDO:638/e", source="Orphanet:638", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0553586 {source="Orphanet:638", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:638/e"} +xref: UMLS:C2931482 {source="OMIM:601321", source="NCBI:mim2gene_medline", source="Orphanet:638", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:638/e"} is_a: MONDO:0019289 {source="Orphanet:638"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021060 {source="MONDO:cjm", source="Orphanet:textdef"} ! RASopathy @@ -216590,9 +216542,9 @@ synonym: "Bonnemann-Meinecke syndrome" EXACT [Orphanet:2941] synonym: "porencephaly cerebellar hypoplasia internal malformations" RELATED [GARD:0004437] synonym: "porencephaly, cerebellar hypoplasia, and internal malformations" RELATED [OMIM:601322] xref: GARD:0004437 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2941/ntbt", source="Orphanet:2941"} +xref: ICD10CM:Q87.8 {source="Orphanet:2941", source="Orphanet:2941/ntbt"} xref: MESH:C536336 {source="MONDO:equivalentTo"} -xref: OMIM:601322 {source="ORDO:2941/e", source="MONDO:equivalentTo", source="Orphanet:2941"} +xref: OMIM:601322 {source="MONDO:equivalentTo", source="Orphanet:2941", source="Orphanet:2941/e"} xref: Orphanet:2941 {source="OMIM:601322", source="MONDO:equivalentTo"} xref: SCTID:763821001 {source="MONDO:equivalentTo"} xref: UMLS:C1832472 {source="OMIM:601322", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2941"} @@ -216628,7 +216580,7 @@ synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinura synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical, OMIM:601338] xref: GARD:0001188 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535351 {source="MONDO:equivalentTo"} -xref: OMIM:601338 {source="MONDO:equivalentTo", source="ORDO:1171/e", source="Orphanet:1171"} +xref: OMIM:601338 {source="Orphanet:1171/e", source="MONDO:equivalentTo", source="Orphanet:1171"} xref: Orphanet:1171 {source="MONDO:equivalentTo", source="OMIM:601338"} xref: SCTID:720634003 {source="MONDO:equivalentTo"} xref: UMLS:C1832466 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601338", source="Orphanet:1171"} @@ -216672,7 +216624,7 @@ synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601 synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345] xref: GARD:0010526 {source="MONDO:equivalentTo"} xref: MESH:C563347 {source="MONDO:equivalentTo"} -xref: OMIM:601345 {source="ORDO:69083/e", source="Orphanet:69083", source="MONDO:equivalentTo"} +xref: OMIM:601345 {source="Orphanet:69083", source="MONDO:equivalentTo", source="Orphanet:69083/e"} xref: Orphanet:69083 {source="OMIM:601345", source="MONDO:equivalentTo"} xref: SCTID:715576000 {source="MONDO:equivalentTo"} xref: UMLS:C1832444 {source="NCBI:mim2gene_medline", source="OMIM:601345", source="Orphanet:69083", source="MONDO:equivalentTo"} @@ -216726,9 +216678,9 @@ synonym: "syndromic microphthalmia type 8" EXACT [Orphanet:3434] synonym: "Viljoen Smart syndrome" RELATED [GARD:0003693] synonym: "Viljoen-Smart syndrome" EXACT [Orphanet:3434] xref: GARD:0003693 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3434", source="ORDO:3434/attributed", source="ORDO:3434/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3434/attributed", source="Orphanet:3434/ntbt", source="Orphanet:3434"} xref: MESH:C537686 {source="MONDO:equivalentTo"} -xref: OMIM:601349 {source="ORDO:3434/e", source="Orphanet:3434", source="MONDO:equivalentTo"} +xref: OMIM:601349 {source="Orphanet:3434", source="MONDO:equivalentTo", source="Orphanet:3434/e"} xref: Orphanet:3434 {source="MONDO:equivalentTo", source="OMIM:601349"} xref: SCTID:715533002 {source="MONDO:equivalentTo"} xref: UMLS:C1832440 {source="NCBI:mim2gene_medline", source="Orphanet:3434", source="MONDO:equivalentTo", source="OMIM:601349"} @@ -216749,12 +216701,12 @@ synonym: "Mievis Verellen-Dumoulin syndrome" RELATED [GARD:0004838] synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867] synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350] xref: GARD:0004838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2867/attributed", source="ORDO:2867/ntbt", source="Orphanet:2867"} -xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="ORDO:2867/e"} -xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="ORDO:2867/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:2867", source="Orphanet:2867/attributed", source="Orphanet:2867/ntbt"} +xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} +xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} xref: Orphanet:2867 {source="MONDO:equivalentTo", source="OMIM:601350"} xref: SCTID:719213009 {source="MONDO:equivalentTo"} -xref: UMLS:C1832439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2867", source="ORDO:2867/e", source="OMIM:601350"} +xref: UMLS:C1832439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e", source="OMIM:601350"} is_a: MONDO:0002081 {source="GARD:0004838"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="OMIM:601350"} ! Mendelian disease relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2867"} ! obsolete primary bone dysplasia with disorganized development of skeletal components @@ -216771,7 +216723,7 @@ synonym: "deafness, femoral epiphyseal dysplasia, short stature and developmenta synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [OMIM:601351] xref: GARD:0001688 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535928 {source="MONDO:equivalentTo"} -xref: OMIM:601351 {source="MONDO:equivalentTo", source="ORDO:3218/e", source="Orphanet:3218"} +xref: OMIM:601351 {source="MONDO:equivalentTo", source="Orphanet:3218", source="Orphanet:3218/e"} xref: Orphanet:3218 {source="MONDO:equivalentTo", source="OMIM:601351"} xref: SCTID:716238003 {source="MONDO:equivalentTo"} xref: UMLS:C1832438 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3218", source="OMIM:601351"} @@ -216789,9 +216741,9 @@ synonym: "epilepsy - microcephaly - skeletal dysplasia" RELATED [GARD:0000836] synonym: "intellectual disability, microcephaly, epilepsy, and coarse face" RELATED [OMIM:601352] synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED DEPRECATED [OMIM:601352] xref: GARD:0000836 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1948/attributed", source="ORDO:1948/ntbt", source="Orphanet:1948"} -xref: MESH:C537662 {source="ORDO:1948/e", source="Orphanet:1948"} -xref: OMIM:601352 {source="MONDO:equivalentTo", source="ORDO:1948/e", source="Orphanet:1948"} +xref: ICD10CM:Q87.8 {source="Orphanet:1948/attributed", source="Orphanet:1948/ntbt", source="Orphanet:1948"} +xref: MESH:C537662 {source="Orphanet:1948/e", source="Orphanet:1948"} +xref: OMIM:601352 {source="Orphanet:1948/e", source="MONDO:equivalentTo", source="Orphanet:1948"} xref: Orphanet:1948 {source="OMIM:601352", source="MONDO:equivalentTo"} xref: UMLS:C1832437 {source="OMIM:601352", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931579 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1948"} @@ -216813,12 +216765,12 @@ synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation synonym: "brachycephaly-deafness-cataract-intellectual disability syndrome" EXACT [Orphanet:1272] synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353] xref: GARD:0000958 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1272/attributed", source="ORDO:1272/ntbt", source="Orphanet:1272"} -xref: MESH:C537933 {source="MONDO:equivalentTo", source="ORDO:1272/e", source="Orphanet:1272"} -xref: OMIM:601353 {source="MONDO:equivalentTo", source="ORDO:1272/e", source="Orphanet:1272"} +xref: ICD10CM:Q87.8 {source="Orphanet:1272/attributed", source="Orphanet:1272/ntbt", source="Orphanet:1272"} +xref: MESH:C537933 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} +xref: OMIM:601353 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} xref: Orphanet:1272 {source="OMIM:601353", source="MONDO:equivalentTo"} xref: SCTID:720955004 {source="MONDO:equivalentTo"} -xref: UMLS:C0795941 {source="OMIM:601353", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1272/e", source="Orphanet:1272"} +xref: UMLS:C0795941 {source="OMIM:601353", source="NCBI:mim2gene_medline", source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1272", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1272"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020225 {source="Orphanet:1272"} ! syndromic cataract @@ -216836,13 +216788,13 @@ synonym: "Ellis-Yale-Winter syndrome" EXACT [Orphanet:2516] synonym: "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" RELATED [GARD:0002098] synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [OMIM:601355] xref: GARD:0002098 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2516/attributed", source="ORDO:2516/ntbt", source="Orphanet:2516"} +xref: ICD10CM:Q87.8 {source="Orphanet:2516/attributed", source="Orphanet:2516/ntbt", source="Orphanet:2516"} xref: MESH:C563341 {source="MONDO:equivalentTo"} -xref: OMIM:601355 {source="MONDO:equivalentTo", source="ORDO:2516/e", source="Orphanet:2516"} +xref: OMIM:601355 {source="Orphanet:2516/e", source="MONDO:equivalentTo", source="Orphanet:2516"} xref: Orphanet:2516 {source="OMIM:601355", source="MONDO:equivalentTo"} xref: SCTID:719379001 {source="MONDO:equivalentTo"} xref: UMLS:C1832436 {source="OMIM:601355", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931129 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2516/e", source="Orphanet:2516"} +xref: UMLS:C2931129 {source="Orphanet:2516/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2516"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015161 {source="Orphanet:2516", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2516", source="Orphanet:2516/inferred"} ! disorder of development or morphogenesis @@ -216898,7 +216850,7 @@ synonym: "sparse hair and intellectual disability" RELATED [OMIM:601358] synonym: "sparse hair and mental retardation" RELATED DEPRECATED [OMIM:601358] xref: GARD:0000270 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C536116 {source="MONDO:equivalentTo"} -xref: OMIM:601358 {source="MONDO:equivalentTo", source="Orphanet:3051", source="ORDO:3051/e"} +xref: OMIM:601358 {source="Orphanet:3051/e", source="MONDO:equivalentTo", source="Orphanet:3051"} xref: Orphanet:3051 {source="MONDO:equivalentTo", source="OMIM:601358"} xref: SCTID:401046009 {source="MONDO:equivalentTo"} xref: UMLS:C1303073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601358", source="Orphanet:3051"} @@ -216917,9 +216869,9 @@ def: "Autosomal recessive amelia is characterised by the absence of the upper li subset: ordo_malformation_syndrome {source="Orphanet:1027"} synonym: "amelia, autosomal recessive" RELATED [OMIM:601360] synonym: "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" EXACT [OMIM:601360, OMIM:genemap2] -xref: ICD10CM:Q73.0 {source="ORDO:1027/attributed", source="ORDO:1027/ntbt", source="Orphanet:1027"} +xref: ICD10CM:Q73.0 {source="Orphanet:1027", source="Orphanet:1027/attributed", source="Orphanet:1027/ntbt"} xref: MESH:C563338 {source="MONDO:equivalentTo"} -xref: OMIM:601360 {source="ORDO:1027/e", source="MONDO:equivalentTo", source="Orphanet:1027"} +xref: OMIM:601360 {source="MONDO:equivalentTo", source="Orphanet:1027", source="Orphanet:1027/e"} xref: Orphanet:1027 {source="MONDO:equivalentTo", source="OMIM:601360"} xref: SCTID:726735000 {source="MONDO:equivalentTo"} xref: UMLS:C1832432 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1027", source="OMIM:601360"} @@ -216954,10 +216906,10 @@ synonym: "monosomy 10pter" EXACT [Orphanet:1580] synonym: "partial monosomy 10p" RELATED [GARD:0001323] synonym: "telomeric deletion 10p" EXACT [Orphanet:1580] xref: GARD:0001323 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:1580/attributed", source="ORDO:1580/ntbt", source="Orphanet:1580"} +xref: ICD10CM:Q93.5 {source="Orphanet:1580/attributed", source="Orphanet:1580/ntbt", source="Orphanet:1580"} xref: MESH:C563337 {source="MONDO:equivalentTo"} xref: NCIT:C130982 {source="MONDO:equivalentTo"} -xref: OMIM:601362 {source="MONDO:equivalentTo", source="ORDO:1580/e", source="Orphanet:1580"} +xref: OMIM:601362 {source="Orphanet:1580/e", source="MONDO:equivalentTo", source="Orphanet:1580"} xref: Orphanet:1580 {source="MONDO:equivalentTo", source="OMIM:601362"} xref: SCTID:719686003 {source="MONDO:equivalentTo"} xref: UMLS:C1832431 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601362", source="Orphanet:1580"} @@ -217000,8 +216952,7 @@ synonym: "stroke" NARROW [DOID:6713] xref: DOID:6713 {source="EFO:0003763", source="MONDO:equivalentTo"} xref: EFO:0000712 {source="MONDO:subClassOf", source="DOID:6713", source="MONDO:superClassOf"} xref: EFO:0003763 {source="MONDO:equivalentTo"} -xref: ICD10CM:I60-I69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:I60-I69 {source="MONDO:equivalentTo", source="DOID:6713"} +xref: ICD10CM:I60-I69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:6713", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:I63.9 {source="DOID:6713"} xref: ICD10CM:I67.9 {source="DOID:6713"} xref: ICD9:430-438.99 {source="EFO:0003763", source="DOID:6713"} @@ -217045,8 +216996,7 @@ synonym: "autosomal dominant nonsyndromic deafness 9" NARROW [OMIM:601369] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COCH" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 9" NARROW [DOID:0110593, MONDORULE:1] synonym: "COCH autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 9" NARROW [MONDO:Lexical, OMIM:601369] -synonym: "deafness, autosomal dominant 9" NARROW [OMIM:601369, OMIM:genemap2] +synonym: "deafness, autosomal dominant 9" NARROW [MONDO:Lexical, OMIM:601369, OMIM:genemap2] synonym: "deafness, autosomal dominant type 9" NARROW [MONDORULE:1, OMIM:601369] synonym: "DFNA9" NARROW ABBREVIATION [DOID:0110593, MONDO:Lexical, OMIM:601369] xref: DOID:0110593 {source="MONDO:equivalentTo"} @@ -217073,12 +217023,12 @@ synonym: "holoprosencephaly craniosynostosis" RELATED [GARD:0002454] synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [OMIM:601370] synonym: "Semilobar holoprosencephaly and primary craniosynostosis" RELATED [GARD:0002454] xref: GARD:0002454 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="ORDO:2163/attributed", source="ORDO:2163/ntbt", source="Orphanet:2163"} +xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2163/attributed", source="Orphanet:2163/ntbt", source="Orphanet:2163"} xref: MESH:C537684 {source="MONDO:equivalentTo"} -xref: OMIM:601370 {source="MONDO:equivalentTo", source="ORDO:2163/e", source="Orphanet:2163"} +xref: OMIM:601370 {source="Orphanet:2163/e", source="MONDO:equivalentTo", source="Orphanet:2163"} xref: Orphanet:2163 {source="MONDO:equivalentTo", source="OMIM:601370"} xref: SCTID:715434005 {source="MONDO:equivalentTo"} -xref: UMLS:C1832424 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2163/e", source="OMIM:601370", source="Orphanet:2163"} +xref: UMLS:C1832424 {source="NCBI:mim2gene_medline", source="Orphanet:2163/e", source="MONDO:equivalentTo", source="OMIM:601370", source="Orphanet:2163"} is_a: MONDO:0015338 {source="Orphanet:2163"} ! syndromic craniosynostosis property_value: confidence "9.0" xsd:double @@ -217090,52 +217040,52 @@ comment: Not in the OMIM series. {source="OMIM:601371"} subset: ordo_disease {source="Orphanet:91492"} synonym: "cataract, age-related nuclear" RELATED [OMIM:601371] synonym: "nuclear sclerosis of the lens" RELATED [OMIM:601371] -xref: ICD10CM:Q12.0 {source="Orphanet:91492", source="ORDO:91492/specific", source="ORDO:91492/e"} -xref: OMIM:115650 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:115660 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:115665 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:115700 {source="Orphanet:91492", source="ORDO:91492/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:115800 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:115900 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:116100 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:116200 {source="Orphanet:91492", source="ORDO:91492/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:116300 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:116400 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:116600 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:116700 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:116800 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:212500 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:302200 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:600881 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:601202 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} +xref: ICD10CM:Q12.0 {source="Orphanet:91492", source="Orphanet:91492/e", source="Orphanet:91492/specific"} +xref: OMIM:115650 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:115660 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:115665 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:115700 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:115800 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:115900 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:116100 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:116200 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:116300 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:116400 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:116600 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:116700 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:116800 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:212500 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:302200 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:600881 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:601202 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} xref: OMIM:601371 {source="MONDO:equivalentTo"} -xref: OMIM:601547 {source="Orphanet:91492", source="MONDO:relatedTo", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:601885 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:604219 {source="Orphanet:91492", source="MONDO:relatedTo", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:604307 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:605387 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:605728 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:605749 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:607304 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:609376 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:609741 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:610019 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:610202 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:610425 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:610623 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:611391 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:611544 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:611597 {source="Orphanet:91492", source="MONDO:relatedTo", source="MONDO:superClassOf", source="ORDO:91492/ntbt"} -xref: OMIM:612968 {source="MONDO:relatedTo", source="ORDO:91492/btnt"} -xref: OMIM:613763 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:614422 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:614691 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:615188 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:615274 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:615277 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:616279 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:616509 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} -xref: OMIM:616851 {source="Orphanet:91492", source="MONDO:superClassOf", source="ORDO:91492/btnt"} +xref: OMIM:601547 {source="Orphanet:91492", source="MONDO:relatedTo", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:601885 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:604219 {source="Orphanet:91492", source="MONDO:relatedTo", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:604307 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:605387 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:605728 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:605749 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:607304 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:609376 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:609741 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:610019 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:610202 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:610425 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:610623 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:611391 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:611544 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:611597 {source="Orphanet:91492", source="MONDO:relatedTo", source="Orphanet:91492/ntbt", source="MONDO:superClassOf"} +xref: OMIM:612968 {source="MONDO:relatedTo", source="Orphanet:91492/btnt"} +xref: OMIM:613763 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:614422 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:614691 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:615188 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:615274 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:615277 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:616279 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:616509 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} +xref: OMIM:616851 {source="Orphanet:91492", source="Orphanet:91492/btnt", source="MONDO:superClassOf"} xref: Orphanet:91492 {source="MONDO:equivalentTo", source="OMIM:601371"} xref: Orphanet:98991 {source="MONDO:superClassOf", source="OMIM:601371"} xref: UMLS:C1832423 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601371"} @@ -217162,9 +217112,9 @@ id: MONDO:0011062 name: aprosencephaly cerebellar dysgenesis subset: ordo_malformation_syndrome {source="Orphanet:1126"} synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [OMIM:601374] -xref: ICD10CM:Q04.3 {source="ORDO:1126/attributed", source="ORDO:1126/ntbt", source="Orphanet:1126"} +xref: ICD10CM:Q04.3 {source="Orphanet:1126", source="Orphanet:1126/attributed", source="Orphanet:1126/ntbt"} xref: MESH:C563331 {source="MONDO:equivalentTo"} -xref: OMIM:601374 {source="ORDO:1126/e", source="MONDO:equivalentTo", source="Orphanet:1126"} +xref: OMIM:601374 {source="MONDO:equivalentTo", source="Orphanet:1126", source="Orphanet:1126/e"} xref: Orphanet:1126 {source="OMIM:601374", source="MONDO:equivalentTo"} xref: UMLS:C1832412 {source="OMIM:601374", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1126"} is_a: MONDO:0017090 {source="Orphanet:1126"} ! midline cerebral malformation @@ -217179,11 +217129,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1808"} synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808] synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375] xref: GARD:0002682 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:1808", source="ORDO:1808/attributed", source="ORDO:1808/ntbt"} -xref: MESH:C536180 {source="Orphanet:1808", source="ORDO:1808/e", source="MONDO:equivalentTo"} -xref: OMIM:601375 {source="Orphanet:1808", source="ORDO:1808/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:1808", source="Orphanet:1808/attributed", source="Orphanet:1808/ntbt"} +xref: MESH:C536180 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} +xref: OMIM:601375 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} xref: Orphanet:1808 {source="OMIM:601375", source="MONDO:equivalentTo"} -xref: UMLS:C1832411 {source="OMIM:601375", source="Orphanet:1808", source="ORDO:1808/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1832411 {source="OMIM:601375", source="Orphanet:1808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1808/e"} is_a: MONDO:0019287 {source="MESH:C536180", source="Orphanet:1808"} ! ectodermal dysplasia syndrome property_value: confidence "32.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type xsd:anyURI {source="GARD:0002682"} @@ -217196,9 +217146,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1421"} synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [OMIM:601376] synonym: "lethal chondrodysplasia seller type" RELATED [GARD:0003226] xref: GARD:0003226 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="Orphanet:1421", source="ORDO:1421/attributed", source="ORDO:1421/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:1421/attributed", source="Orphanet:1421/ntbt", source="Orphanet:1421"} xref: MESH:C563330 {source="MONDO:equivalentTo"} -xref: OMIM:601376 {source="ORDO:1421/e", source="Orphanet:1421", source="MONDO:equivalentTo"} +xref: OMIM:601376 {source="Orphanet:1421", source="MONDO:equivalentTo", source="Orphanet:1421/e"} xref: Orphanet:1421 {source="OMIM:601376", source="MONDO:equivalentTo"} xref: UMLS:C1832410 {source="OMIM:601376", source="NCBI:mim2gene_medline", source="Orphanet:1421", source="MONDO:equivalentTo"} is_a: MONDO:0019718 {source="Orphanet:1421"} ! lethal chondrodysplasia @@ -217214,12 +217164,12 @@ synonym: "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379] synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754] xref: GARD:0002754 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:97340/attributed", source="ORDO:97340/ntbt", source="Orphanet:97340"} -xref: MESH:C536072 {source="MONDO:equivalentTo", source="ORDO:97340/e", source="Orphanet:97340"} -xref: OMIM:601379 {source="MONDO:equivalentTo", source="ORDO:97340/e", source="Orphanet:97340"} +xref: ICD10CM:Q87.0 {source="Orphanet:97340/attributed", source="Orphanet:97340/ntbt", source="Orphanet:97340"} +xref: MESH:C536072 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} +xref: OMIM:601379 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} xref: Orphanet:97340 {source="OMIM:601379", source="MONDO:equivalentTo"} xref: SCTID:721227001 {source="MONDO:equivalentTo"} -xref: UMLS:C1832408 {source="OMIM:601379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:97340/e", source="Orphanet:97340"} +xref: UMLS:C1832408 {source="Orphanet:97340/e", source="OMIM:601379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97340"} is_a: MONDO:0015338 {source="Orphanet:97340"} ! syndromic craniosynostosis property_value: confidence "7.125" xsd:double @@ -217244,12 +217194,12 @@ synonym: "CMT4B1" EXACT ABBREVIATION [DOID:0110191, MONDO:Lexical, OMIM:601382, synonym: "MTMR2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110191 {source="MONDO:equivalentTo"} xref: GARD:0001253 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99955", source="DOID:0110191", source="ORDO:99955/attributed", source="ORDO:99955/ntbt"} -xref: MESH:C535420 {source="ORDO:99955/e", source="Orphanet:99955", source="MONDO:equivalentTo"} -xref: OMIM:601382 {source="ORDO:99955/e", source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:99955/attributed", source="Orphanet:99955/ntbt", source="Orphanet:99955", source="DOID:0110191"} +xref: MESH:C535420 {source="Orphanet:99955", source="MONDO:equivalentTo", source="Orphanet:99955/e"} +xref: OMIM:601382 {source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo", source="Orphanet:99955/e"} xref: Orphanet:99955 {source="DOID:0110191", source="MONDO:equivalentTo", source="OMIM:601382"} xref: SCTID:715803003 {source="MONDO:equivalentTo"} -xref: UMLS:C1832399 {source="ORDO:99955/e", source="Orphanet:99955", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601382"} +xref: UMLS:C1832399 {source="Orphanet:99955", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99955/e", source="OMIM:601382"} is_a: MONDO:0015626 {source="DOID:0110191/inferred", source="MESH:C535420", source="MONDO:Redundant", source="OMIM:601382", source="Orphanet:99955/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110191", source="MONDO:Redundant", source="Orphanet:99955", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 @@ -217265,8 +217215,7 @@ def: "An autosomal recessive nonsyndromic deafness that is characterized by prel synonym: "autosomal recessive deafness 12" NARROW [DOID:0110467] synonym: "autosomal recessive nonsyndromic deafness 12" NARROW CLINGEN_PREFERRED [OMIM:601386] synonym: "autosomal recessive nonsyndromic deafness type 12" NARROW [DOID:0110467, MONDORULE:2] -synonym: "deafness, autosomal recessive 12" NARROW [OMIM:601386, OMIM:genemap2] -synonym: "deafness, autosomal recessive 12" NARROW [MONDO:Lexical, OMIM:601386] +synonym: "deafness, autosomal recessive 12" NARROW [MONDO:Lexical, OMIM:601386, OMIM:genemap2] synonym: "deafness, autosomal recessive 12, modifier of" NARROW [OMIM:601386, OMIM:genemap2] synonym: "deafness, autosomal recessive type 12" NARROW [MONDORULE:2, OMIM:601386] synonym: "DFNB12" NARROW ABBREVIATION [DOID:0110467, MONDO:Lexical, OMIM:601386] @@ -217354,7 +217303,7 @@ synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [OMIM:601399] synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [OMIM:601399] xref: GARD:0010352 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.4 {source="ORDO:71290/attributed", source="ORDO:71290/ntbt", source="Orphanet:71290"} +xref: ICD10CM:D69.4 {source="Orphanet:71290", source="Orphanet:71290/attributed", source="Orphanet:71290/ntbt"} xref: MESH:C563324 {source="MONDO:equivalentTo"} xref: OMIM:616216 {source="MONDO:superClassOf", source="Orphanet:71290"} xref: Orphanet:71290 {source="OMIM:601399", source="MONDO:equivalentTo"} @@ -217403,8 +217352,7 @@ def: "An autosomal dominant nonsyndromic deafness that is characterized by progr synonym: "autosomal dominant deafness 7" NARROW [DOID:0110591] synonym: "autosomal dominant nonsyndromic deafness 7" NARROW [OMIM:601412] synonym: "autosomal dominant nonsyndromic deafness type 7" NARROW [DOID:0110591, MONDORULE:1] -synonym: "deafness, autosomal dominant 7" NARROW [OMIM:601412, OMIM:genemap2] -synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical, OMIM:601412] +synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical, OMIM:601412, OMIM:genemap2] synonym: "DFNA7" NARROW ABBREVIATION [DOID:0110591, MONDO:Lexical, OMIM:601412] xref: DOID:0110591 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110591"} @@ -217470,8 +217418,8 @@ synonym: "myopathy, myofibrillar, 1" RELATED [MONDO:Lexical, OMIM:601419] synonym: "myopathy, myofibrillar, desmin-related" RELATED [OMIM:601419] synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1, OMIM:601419] xref: DOID:0080092 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="ORDO:98909/attributed", source="ORDO:98909/ntbt", source="Orphanet:98909"} -xref: OMIM:601419 {source="MONDO:equivalentTo", source="DOID:0080092", source="ORDO:98909/e", source="Orphanet:98909"} +xref: ICD10CM:G71.8 {source="Orphanet:98909/attributed", source="Orphanet:98909/ntbt", source="Orphanet:98909"} +xref: OMIM:601419 {source="Orphanet:98909/e", source="MONDO:equivalentTo", source="DOID:0080092", source="Orphanet:98909"} xref: Orphanet:98909 {source="MONDO:equivalentTo", source="OMIM:601419"} xref: UMLS:C1832370 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601419", source="Orphanet:98909"} is_a: MONDO:0005336 {source="DOID:0080092", source="MONDO:Redundant", source="indirect"} ! myopathy @@ -217525,12 +217473,12 @@ synonym: "Patterson-Lowry rhizomelic dysplasia" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438] xref: GARD:0004703 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:2831/attributed", source="ORDO:2831/ntbt", source="Orphanet:2831"} -xref: MESH:C537609 {source="ORDO:2831/e", source="MONDO:equivalentTo", source="Orphanet:2831"} -xref: OMIM:601438 {source="ORDO:2831/e", source="MONDO:equivalentTo", source="Orphanet:2831"} +xref: ICD10CM:Q78.8 {source="Orphanet:2831", source="Orphanet:2831/attributed", source="Orphanet:2831/ntbt"} +xref: MESH:C537609 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} +xref: OMIM:601438 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} xref: Orphanet:2831 {source="MONDO:equivalentTo", source="OMIM:601438"} xref: SCTID:715505002 {source="MONDO:equivalentTo"} -xref: UMLS:C1832359 {source="ORDO:2831/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2831", source="OMIM:601438"} +xref: UMLS:C1832359 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2831", source="OMIM:601438", source="Orphanet:2831/e"} is_a: MONDO:0019697 {source="Orphanet:2831"} ! mesomelic and rhizo-mesomelic dysplasia property_value: confidence "33.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type xsd:anyURI {source="GARD:0004703"} @@ -217546,13 +217494,13 @@ synonym: "Stapedo-vestibular ankylosis" EXACT [Orphanet:3235] synonym: "Thies Reis syndrome" RELATED [GARD:0005170] synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235] xref: GARD:0005170 {source="MONDO:equivalentTo"} -xref: ICD10CM:H74.3 {source="Orphanet:3235", source="ORDO:3235/attributed", source="ORDO:3235/ntbt"} +xref: ICD10CM:H74.3 {source="Orphanet:3235", source="Orphanet:3235/attributed", source="Orphanet:3235/ntbt"} xref: MESH:C563316 {source="MONDO:equivalentTo"} -xref: OMIM:601449 {source="Orphanet:3235", source="ORDO:3235/e", source="MONDO:equivalentTo"} +xref: OMIM:601449 {source="Orphanet:3235", source="MONDO:equivalentTo", source="Orphanet:3235/e"} xref: Orphanet:3235 {source="MONDO:equivalentTo", source="OMIM:601449"} xref: SCTID:715529009 {source="MONDO:equivalentTo"} xref: UMLS:C1832354 {source="Orphanet:3235", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601449"} -xref: UMLS:C1844678 {source="Orphanet:3235", source="MONDO:relatedTo", source="ORDO:3235/e"} +xref: UMLS:C1844678 {source="Orphanet:3235", source="MONDO:relatedTo", source="Orphanet:3235/e"} is_a: MONDO:0003847 {source="Orphanet:3235/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0019589 {source="Orphanet:3235"} ! syndromic genetic hearing loss property_value: confidence "0.16666666666666674" xsd:double @@ -217570,9 +217518,9 @@ synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428] synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450] xref: GARD:0001428 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:2412", source="ORDO:2412/attributed", source="ORDO:2412/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:2412/attributed", source="Orphanet:2412/ntbt", source="Orphanet:2412"} xref: MESH:C563315 {source="MONDO:equivalentTo"} -xref: OMIM:601450 {source="Orphanet:2412", source="ORDO:2412/e", source="MONDO:equivalentTo"} +xref: OMIM:601450 {source="Orphanet:2412", source="MONDO:equivalentTo", source="Orphanet:2412/e"} xref: Orphanet:2412 {source="MONDO:equivalentTo", source="GARD:0001428", source="OMIM:601450"} xref: SCTID:763755009 {source="MONDO:equivalentTo"} xref: UMLS:C1832353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601450"} @@ -217593,9 +217541,9 @@ synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452] synonym: "OCULOAURICULOFRONTONASAL syndrome" RELATED [OMIM:601452] synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452] xref: GARD:0004031 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:398156", source="ORDO:398156/attributed", source="ORDO:398156/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:398156/attributed", source="Orphanet:398156/ntbt", source="Orphanet:398156"} xref: MESH:C537865 {source="MONDO:equivalentTo"} -xref: OMIM:601452 {source="ORDO:398156/e", source="Orphanet:398156", source="MONDO:equivalentTo"} +xref: OMIM:601452 {source="Orphanet:398156", source="MONDO:equivalentTo", source="Orphanet:398156/e"} xref: Orphanet:398156 {source="OMIM:601452", source="MONDO:equivalentTo"} xref: UMLS:C1832352 {source="OMIM:601452", source="Orphanet:398156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016643 {source="Orphanet:398156"} ! frontonasal dysplasia @@ -217613,11 +217561,11 @@ synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265] synonym: "Tricho-dental syndrome" RELATED [GARD:0000265] synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453] xref: GARD:0000265 {source="MONDO:equivalentTo"} -xref: MESH:C536551 {source="MONDO:equivalentTo", source="ORDO:3351/e", source="Orphanet:3351"} -xref: OMIM:601453 {source="MONDO:equivalentTo", source="ORDO:3351/e", source="Orphanet:3351"} +xref: MESH:C536551 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} +xref: OMIM:601453 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: Orphanet:3351 {source="OMIM:601453", source="MONDO:equivalentTo"} xref: SCTID:277810000 {source="MONDO:equivalentTo"} -xref: UMLS:C0406724 {source="OMIM:601453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3351/e", source="Orphanet:3351"} +xref: UMLS:C0406724 {source="OMIM:601453", source="NCBI:mim2gene_medline", source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} is_a: MONDO:0019282 {source="Orphanet:3351"} ! syndromic hair shaft abnormality is_a: MONDO:0019287 {source="MESH:C536551", source="Orphanet:3351", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double @@ -217662,12 +217610,12 @@ synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:6014 synonym: "NMSL" RELATED ABBREVIATION [GARD:0003973] xref: DOID:0110186 {source="MONDO:equivalentTo"} xref: GARD:0003973 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99950", source="DOID:0110186", source="ORDO:99950/attributed", source="ORDO:99950/ntbt"} -xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="ORDO:99950/e"} -xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="DOID:0110186", source="ORDO:99950/e"} +xref: ICD10CM:G60.0 {source="Orphanet:99950", source="Orphanet:99950/attributed", source="Orphanet:99950/ntbt", source="DOID:0110186"} +xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e"} +xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e", source="DOID:0110186"} xref: Orphanet:99950 {source="OMIM:601455", source="MONDO:equivalentTo", source="DOID:0110186"} xref: SCTID:715798007 {source="MONDO:equivalentTo"} -xref: UMLS:C1832334 {source="Orphanet:99950", source="NCBI:mim2gene_medline", source="OMIM:601455", source="MONDO:equivalentTo", source="ORDO:99950/e"} +xref: UMLS:C1832334 {source="Orphanet:99950", source="NCBI:mim2gene_medline", source="OMIM:601455", source="MONDO:equivalentTo", source="Orphanet:99950/e"} is_a: MONDO:0015626 {source="DOID:0110186/inferred", source="MESH:C535716", source="MONDO:Redundant", source="OMIM:601455", source="Orphanet:99950/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110186", source="MONDO:Redundant", source="Orphanet:99950", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 @@ -217692,9 +217640,9 @@ synonym: "severe combined immunodeficiency, B cell-negative" EXACT [OMIM:601457, synonym: "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339] xref: DOID:0090013 {source="MONDO:equivalentTo"} xref: GARD:0010339 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D81.1 {source="ORDO:331206/attributed", source="ORDO:331206/ntbt", source="DOID:0090013", source="Orphanet:331206"} +xref: ICD10CM:D81.1 {source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/attributed", source="Orphanet:331206/ntbt"} xref: MESH:C563311 {source="MONDO:equivalentTo"} -xref: OMIM:601457 {source="MONDO:equivalentTo", source="DOID:0090013", source="Orphanet:331206", source="ORDO:331206/e"} +xref: OMIM:601457 {source="MONDO:equivalentTo", source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/e"} xref: Orphanet:331206 {source="MONDO:equivalentTo", source="DOID:0090013", source="OMIM:601457"} xref: UMLS:C1832322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601457", source="Orphanet:331206"} is_a: MONDO:0015974 {source="DC-OMIM:601457", source="DOID:0090013", source="MONDO:Redundant", source="Orphanet:331206/inferred"} ! severe combined immunodeficiency @@ -217741,7 +217689,7 @@ xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:601462"} xref: UMLS:C0751885 {source="OMIM:601462", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931107 {source="OMIM:601462", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018940 {source="DOID:0110663", source="MONDO:Redundant", source="OMIM:601462", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1955 ! CHRNA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1955 {source="mim2gene_medgen"} ! CHRNA1 @@ -217779,9 +217727,9 @@ synonym: "MBS2 (formerly)" RELATED [GARD:0008583] synonym: "Mobius syndrome 2 (formerly)" RELATED [GARD:0008583] synonym: "Moebius syndrome 2 (formerly)" RELATED [GARD:0008583] xref: GARD:0008583 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:306527", source="ORDO:306527/attributed", source="ORDO:306527/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:306527", source="Orphanet:306527/attributed", source="Orphanet:306527/ntbt"} xref: MESH:C563309 {source="MONDO:equivalentTo"} -xref: OMIM:601471 {source="Orphanet:306527", source="ORDO:306527/e", source="MONDO:superClassOf", source="GARD:0008583"} +xref: OMIM:601471 {source="Orphanet:306527", source="MONDO:superClassOf", source="GARD:0008583", source="Orphanet:306527/e"} xref: OMIMPS:601471 {source="MONDO:equivalentTo"} xref: Orphanet:306527 {source="MONDO:equivalentTo", source="OMIM:601471"} xref: SCTID:733091002 {source="MONDO:equivalentTo"} @@ -217813,10 +217761,10 @@ synonym: "CMT2D" EXACT ABBREVIATION [DOID:0110164, MONDO:Lexical, OMIM:601472, O synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110164 {source="MONDO:equivalentTo"} xref: GARD:0001251 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99938/attributed", source="ORDO:99938/ntbt", source="DOID:0110164", source="Orphanet:99938"} +xref: ICD10CM:G60.0 {source="Orphanet:99938/attributed", source="Orphanet:99938/ntbt", source="DOID:0110164", source="Orphanet:99938"} xref: MESH:C537993 {source="MONDO:equivalentTo"} xref: NCIT:C122659 {source="MONDO:equivalentTo"} -xref: OMIM:601472 {source="MONDO:equivalentTo", source="ORDO:99938/e", source="DOID:0110164", source="Orphanet:99938"} +xref: OMIM:601472 {source="Orphanet:99938/e", source="MONDO:equivalentTo", source="DOID:0110164", source="Orphanet:99938"} xref: Orphanet:99938 {source="MONDO:equivalentTo", source="DOID:0110164", source="OMIM:601472"} xref: SCTID:717011006 {source="MONDO:equivalentTo"} xref: UMLS:C1832274 {source="NCIT:C122659", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99938", source="OMIM:601472"} @@ -217861,11 +217809,11 @@ synonym: "mucopolysaccharidosis type IX" EXACT [DOID:0050809, MONDORULE:3, Orpha synonym: "mucopolysaccharidosis, type 9" RELATED [OMIM:601492] synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492] xref: DOID:0050809 {source="MONDO:equivalentTo"} -xref: ICD10CM:E76.2 {source="ORDO:67041/attributed", source="ORDO:67041/ntbt", source="Orphanet:67041"} +xref: ICD10CM:E76.2 {source="Orphanet:67041", source="Orphanet:67041/attributed", source="Orphanet:67041/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563209 {source="MONDO:equivalentTo"} xref: NCIT:C129073 {source="MONDO:equivalentTo"} -xref: OMIM:601492 {source="DOID:0050809", source="ORDO:67041/e", source="MONDO:equivalentTo", source="Orphanet:67041"} +xref: OMIM:601492 {source="DOID:0050809", source="MONDO:equivalentTo", source="Orphanet:67041", source="Orphanet:67041/e"} xref: Orphanet:67041 {source="MONDO:equivalentTo", source="OMIM:601492"} xref: SCTID:124473006 {source="MONDO:equivalentTo"} xref: UMLS:C1291490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:67041", source="OMIM:601492", source="NCIT:C129073"} @@ -217941,16 +217889,16 @@ synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [ synonym: "agammaglobulinemia, non-Bruton type" EXACT [Orphanet:33110] synonym: "AGM" EXACT ABBREVIATION [MONDO:cjm] xref: GARD:0009640 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D80.0 {source="ORDO:33110/inclusion", source="ORDO:33110/ntbt", source="Orphanet:33110"} +xref: ICD10CM:D80.0 {source="Orphanet:33110/inclusion", source="Orphanet:33110/ntbt", source="Orphanet:33110"} xref: MESH:C538056 {source="MONDO:equivalentTo"} -xref: OMIM:601495 {source="MONDO:superClassOf", source="ORDO:33110/e", source="Orphanet:33110"} -xref: OMIM:612692 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} -xref: OMIM:613500 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} -xref: OMIM:613501 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} -xref: OMIM:613502 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} -xref: OMIM:613506 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} -xref: OMIM:615214 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} -xref: OMIM:616941 {source="ORDO:33110/btnt", source="MONDO:superClassOf", source="Orphanet:33110"} +xref: OMIM:601495 {source="Orphanet:33110/e", source="MONDO:superClassOf", source="Orphanet:33110"} +xref: OMIM:612692 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} +xref: OMIM:613500 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} +xref: OMIM:613501 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} +xref: OMIM:613502 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} +xref: OMIM:613506 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} +xref: OMIM:615214 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} +xref: OMIM:616941 {source="MONDO:superClassOf", source="Orphanet:33110/btnt", source="Orphanet:33110"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:601495"} xref: Orphanet:33110 {source="OMIM:601495", source="MONDO:equivalentTo"} xref: UMLS:C1832241 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:33110"} @@ -218014,12 +217962,12 @@ synonym: "Human HOXA1 syndromes" RELATED [GARD:0008333] synonym: "Navajo brainstem syndrome" EXACT [DOID:0050682, OMIM:601536, Orphanet:69739] xref: DOID:0050682 {source="MONDO:equivalentTo"} xref: GARD:0008333 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C535397 {source="ORDO:69739/e", source="Orphanet:69739"} -xref: OMIM:601536 {source="DOID:0050682", source="ORDO:69739/e", source="MONDO:equivalentTo", source="Orphanet:69739"} +xref: MESH:C535397 {source="Orphanet:69739", source="Orphanet:69739/e"} +xref: OMIM:601536 {source="DOID:0050682", source="MONDO:equivalentTo", source="Orphanet:69739", source="Orphanet:69739/e"} xref: Orphanet:69737 {source="MONDO:superClassOf", source="OMIM:601536"} xref: Orphanet:69739 {source="MONDO:equivalentTo", source="OMIM:601536"} xref: SCTID:720518006 {source="MONDO:equivalentTo"} -xref: UMLS:C1832215 {source="ORDO:69739/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69739", source="OMIM:601536"} +xref: UMLS:C1832215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:69739", source="OMIM:601536", source="Orphanet:69739/e"} xref: UMLS:C1832216 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:601536"} is_a: MONDO:0006025 {source="DOID:0050682", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:69739", source="indirect"} ! genetic nervous system disorder @@ -218152,8 +218100,8 @@ is_a: MONDO:0005129 {source="DOID", source="DOID:0110269", source="MESH:C563294" intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2398 ! CRYBB2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2398 {source="mim2gene_medgen"} ! CRYBB2 -relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract -relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome +relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract +relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt"} ! cataract - microcornea syndrome property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -218165,7 +218113,7 @@ xref: Orphanet:91416 {source="MONDO:subClassOf", source="OMIM:601549"} xref: UMLS:C0344505 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1863199 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:601549"} xref: UMLS:C4012597 {source="MONDO:equivalentTo"} -is_a: MONDO:0019627 {source="ORDO:91416/btnt"} ! isolated congenital alacrima +is_a: MONDO:0019627 {source="Orphanet:91416/btnt"} ! isolated congenital alacrima relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "2.7860082304526737" xsd:double @@ -218182,9 +218130,9 @@ synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-spo synonym: "FDLAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601552] synonym: "FDLAB syndrome" EXACT [Orphanet:412022] synonym: "Traboulsi syndrome" EXACT [OMIM:601552, Orphanet:412022] -xref: ICD10CM:Q87.0 {source="Orphanet:412022", source="ORDO:412022/attributed", source="ORDO:412022/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:412022/attributed", source="Orphanet:412022/ntbt", source="Orphanet:412022"} xref: MESH:C563293 {source="MONDO:equivalentTo"} -xref: OMIM:601552 {source="MONDO:equivalentTo", source="Orphanet:412022", source="ORDO:412022/e"} +xref: OMIM:601552 {source="Orphanet:412022/e", source="MONDO:equivalentTo", source="Orphanet:412022"} xref: Orphanet:412022 {source="OMIM:601552", source="MONDO:equivalentTo"} xref: UMLS:C1832167 {source="OMIM:601552", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:412022"} is_a: MONDO:0020236 {source="Orphanet:412022"} ! lens position anomaly @@ -218206,11 +218154,11 @@ synonym: "juvenile macular degeneration and hypotrichosis" RELATED [GARD:0003066 synonym: "juvenile macular dystrophy and congenital hypotrichosis" RELATED [GARD:0003066] xref: DOID:0110711 {source="MONDO:equivalentTo"} xref: GARD:0003066 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q84.0 {source="Orphanet:1573", source="ORDO:1573/attributed", source="ORDO:1573/ntbt"} +xref: ICD10CM:Q84.0 {source="Orphanet:1573/attributed", source="Orphanet:1573/ntbt", source="Orphanet:1573"} xref: MESH:C537698 {source="MONDO:equivalentTo"} -xref: OMIM:601553 {source="ORDO:1573/e", source="DOID:0110711", source="Orphanet:1573", source="MONDO:equivalentTo"} +xref: OMIM:601553 {source="DOID:0110711", source="Orphanet:1573", source="MONDO:equivalentTo", source="Orphanet:1573/e"} xref: Orphanet:1573 {source="OMIM:601553", source="MONDO:equivalentTo"} -xref: UMLS:C1832162 {source="ORDO:1573/e", source="OMIM:601553", source="Orphanet:1573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1832162 {source="OMIM:601553", source="Orphanet:1573", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1573/e"} is_a: MONDO:0003037 {source="DOID:0110711", source="MESH:C537698"} ! hypotrichosis is_a: MONDO:0019287 {source="Orphanet:1573"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1762 {source="mim2gene_medgen"} ! CDH3 @@ -218239,13 +218187,13 @@ synonym: "Stüve-Wiedemann dysplasia" EXACT [Orphanet:3206] synonym: "Stüve-Wiedemann syndrome" EXACT [Orphanet:3206] synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [Orphanet:3206] xref: GARD:0005045 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:3206/attributed", source="ORDO:3206/ntbt", source="Orphanet:3206"} -xref: MESH:C537502 {source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e"} -xref: OMIM:601559 {source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:3206", source="Orphanet:3206/attributed", source="Orphanet:3206/ntbt"} +xref: MESH:C537502 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"} +xref: OMIM:601559 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"} xref: Orphanet:3206 {source="MONDO:equivalentTo", source="OMIM:601559"} xref: SCTID:254097005 {source="MONDO:equivalentTo"} -xref: UMLS:C0432240 {source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e"} -xref: UMLS:C0796176 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3206", source="ORDO:3206/e", source="OMIM:601559"} +xref: UMLS:C0432240 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"} +xref: UMLS:C0796176 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3206", source="OMIM:601559", source="Orphanet:3206/e"} is_a: MONDO:0009717 {source="OMIM:601559"} ! Schwartz-Jampel syndrome is_a: MONDO:0019698 {source="Orphanet:3206"} ! bent bone dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6597 {source="mim2gene_medgen"} ! LIFR @@ -218260,9 +218208,9 @@ subset: ordo_disease {source="Orphanet:166016"} synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [OMIM:601560] synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [OMIM:601560] synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [Orphanet:166016] -xref: ICD10CM:Q78.8 {source="ORDO:166016/attributed", source="ORDO:166016/ntbt", source="Orphanet:166016"} +xref: ICD10CM:Q78.8 {source="Orphanet:166016", source="Orphanet:166016/attributed", source="Orphanet:166016/ntbt"} xref: MESH:C563291 {source="MONDO:equivalentTo"} -xref: OMIM:601560 {source="ORDO:166016/e", source="MONDO:equivalentTo", source="Orphanet:166016"} +xref: OMIM:601560 {source="MONDO:equivalentTo", source="Orphanet:166016", source="Orphanet:166016/e"} xref: Orphanet:166016 {source="MONDO:equivalentTo", source="OMIM:601560"} xref: SCTID:768935003 {source="MONDO:equivalentTo"} xref: UMLS:C1832112 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166016", source="OMIM:601560"} @@ -218279,7 +218227,7 @@ synonym: "dyssegmental dysplasia and glaucoma" RELATED [GARD:0002025] synonym: "dyssegmental dysplasia with glaucoma" RELATED [OMIM:601561] xref: GARD:0002025 {source="MONDO:equivalentTo"} xref: MESH:C563290 {source="MONDO:equivalentTo"} -xref: OMIM:601561 {source="MONDO:equivalentTo", source="Orphanet:1804", source="ORDO:1804/e"} +xref: OMIM:601561 {source="Orphanet:1804/e", source="MONDO:equivalentTo", source="Orphanet:1804"} xref: Orphanet:1804 {source="OMIM:601561", source="GARD:0002025", source="MONDO:equivalentTo"} xref: UMLS:C1832111 {source="OMIM:601561", source="GARD:0002025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1804"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -218343,13 +218291,13 @@ synonym: "CMT4C" EXACT ABBREVIATION [DOID:0110183, MONDO:Lexical, OMIM:601596, O synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110183 {source="MONDO:equivalentTo"} xref: GARD:0009201 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99949/attributed", source="ORDO:99949/ntbt", source="DOID:0110183", source="Orphanet:99949"} -xref: MESH:C535423 {source="MONDO:equivalentTo", source="ORDO:99949/e", source="Orphanet:99949"} +xref: ICD10CM:G60.0 {source="DOID:0110183", source="Orphanet:99949/attributed", source="Orphanet:99949/ntbt", source="Orphanet:99949"} +xref: MESH:C535423 {source="Orphanet:99949/e", source="MONDO:equivalentTo", source="Orphanet:99949"} xref: NCIT:C129864 {source="MONDO:equivalentTo"} -xref: OMIM:601596 {source="DOID:0110183", source="MONDO:equivalentTo", source="ORDO:99949/e", source="Orphanet:99949"} +xref: OMIM:601596 {source="Orphanet:99949/e", source="DOID:0110183", source="MONDO:equivalentTo", source="Orphanet:99949"} xref: Orphanet:99949 {source="OMIM:601596", source="DOID:0110183", source="MONDO:equivalentTo"} xref: SCTID:715797002 {source="MONDO:equivalentTo"} -xref: UMLS:C1866636 {source="OMIM:601596", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:99949/e", source="NCIT:C129864", source="Orphanet:99949"} +xref: UMLS:C1866636 {source="Orphanet:99949/e", source="OMIM:601596", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129864", source="Orphanet:99949"} is_a: MONDO:0015626 {source="DOID:0110183/inferred", source="MESH:C535423", source="MONDO:Redundant", source="NCIT:C129864", source="OMIM:601596", source="Orphanet:99949/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110183", source="MONDO:Redundant", source="Orphanet:99949", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 @@ -218370,14 +218318,14 @@ synonym: "hereditary multiple benign cystic epithelioma" RELATED [GARD:0010867] synonym: "multiple familial trichoepithelioma" RELATED [GARD:0010867] synonym: "trichoepithelioma multiple familial" RELATED [GARD:0010867] xref: GARD:0010867 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D23.3 {source="Orphanet:867", source="ORDO:867/attributed", source="ORDO:867/ntbt"} -xref: MESH:C536552 {source="ORDO:867/e", source="Orphanet:867"} -xref: OMIM:601606 {source="ORDO:867/e", source="Orphanet:867", source="MONDO:superClassOf"} -xref: OMIM:612099 {source="Orphanet:867", source="MONDO:superClassOf", source="ORDO:867/btnt"} +xref: ICD10CM:D23.3 {source="Orphanet:867/attributed", source="Orphanet:867/ntbt", source="Orphanet:867"} +xref: MESH:C536552 {source="Orphanet:867", source="Orphanet:867/e"} +xref: OMIM:601606 {source="Orphanet:867", source="MONDO:superClassOf", source="Orphanet:867/e"} +xref: OMIM:612099 {source="Orphanet:867/btnt", source="Orphanet:867", source="MONDO:superClassOf"} xref: Orphanet:79493 {source="MONDO:subClassOf", source="OMIM:601606"} xref: Orphanet:867 {source="MONDO:equivalentTo", source="OMIM:601606"} xref: SCTID:403825008 {source="MONDO:equivalentTo"} -xref: UMLS:C1275122 {source="ORDO:867/e", source="Orphanet:867", source="MONDO:equivalentTo"} +xref: UMLS:C1275122 {source="Orphanet:867", source="MONDO:equivalentTo", source="Orphanet:867/e"} is_a: MONDO:0011512 {source="Orphanet:867"} ! Brooke-Spiegler syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2584 {source="mim2gene_medgen"} ! CYLD relationship: has_modifier HP:0000006 {source="Orphanet:867"} ! Autosomal dominant inheritance @@ -218406,9 +218354,9 @@ synonym: "Mardini-Nyhan association" RELATED [OMIM:601612] synonym: "Mardini-Nyhan syndrome" EXACT [Orphanet:1120] synonym: "pulmonary aplasia and triphalangia of the thumb" RELATED [GARD:0003378, MESH:C535708] xref: GARD:0003378 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1120", source="ORDO:1120/attributed", source="ORDO:1120/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1120", source="Orphanet:1120/attributed", source="Orphanet:1120/ntbt"} xref: MESH:C535708 {source="MONDO:equivalentTo"} -xref: OMIM:601612 {source="Orphanet:1120", source="MONDO:equivalentTo", source="ORDO:1120/e"} +xref: OMIM:601612 {source="Orphanet:1120", source="MONDO:equivalentTo", source="Orphanet:1120/e"} xref: Orphanet:1120 {source="GARD:0003378", source="MONDO:equivalentTo", source="OMIM:601612"} xref: SCTID:721976003 {source="MONDO:equivalentTo"} xref: UMLS:C0265780 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf"} @@ -218441,10 +218389,10 @@ def: "An acute leukemia of ambiguous lineage in which there is a dual population subset: ordo_disease {source="Orphanet:98836"} synonym: "acute bilineal leukemia" EXACT [NCIT:C6923] synonym: "bilineal acute leukemia" RELATED [Orphanet:98836] -xref: ICD10CM:C95.0 {source="ORDO:98836/ntbt", source="Orphanet:98836"} +xref: ICD10CM:C95.0 {source="Orphanet:98836", source="Orphanet:98836/ntbt"} xref: NCIT:C6923 {source="MONDO:equivalentTo"} xref: Orphanet:98836 {source="MONDO:equivalentObsolete"} -xref: UMLS:C0349680 {source="ORDO:98836/e", source="MONDO:equivalentTo", source="Orphanet:98836", source="NCIT:C6923"} +xref: UMLS:C0349680 {source="MONDO:equivalentTo", source="Orphanet:98836", source="NCIT:C6923", source="Orphanet:98836/e"} is_a: MONDO:0019460 {source="NCIT:C6923/inferred", source="NCIT:C82179", source="Orphanet:98836"} ! acute leukemia of ambiguous lineage property_value: confidence "0.0" xsd:double @@ -218473,7 +218421,7 @@ xref: Orphanet:268357 {source="MONDO:subClassOf", source="OMIM:601634"} xref: Orphanet:823 {source="MONDO:subClassOf", source="OMIM:601634"} xref: UMLS:C1866558 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601634"} xref: UMLS:C1866559 {source="OMIM:601634", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019351 {source="ORDO:823/btnt"} ! isolated spina bifida +is_a: MONDO:0019351 {source="Orphanet:823/btnt"} ! isolated spina bifida relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.5000000000000004" xsd:double @@ -218496,7 +218444,7 @@ xref: Orphanet:29072 {source="MONDO:subClassOf", source="OMIM:601650"} xref: UMLS:C1866552 {source="OMIM:601650", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000448 {source="DC-OMIM:601650", source="MESH:C566646", source="MONDO:Redundant", source="OMIM:601650"} ! paraganglioma is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm -is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26034 ! SDHAF2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26034 {source="mim2gene_medgen"} ! SDHAF2 @@ -218555,9 +218503,9 @@ def: "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare pri subset: ordo_disease {source="Orphanet:168451"} synonym: "SEMDAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601668] synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical, OMIM:601668] -xref: ICD10CM:Q77.7 {source="ORDO:168451/attributed", source="ORDO:168451/ntbt", source="Orphanet:168451"} +xref: ICD10CM:Q77.7 {source="Orphanet:168451/attributed", source="Orphanet:168451/ntbt", source="Orphanet:168451"} xref: MESH:C566644 {source="MONDO:equivalentTo"} -xref: OMIM:601668 {source="MONDO:equivalentTo", source="Orphanet:168451", source="ORDO:168451/e"} +xref: OMIM:601668 {source="Orphanet:168451/e", source="MONDO:equivalentTo", source="Orphanet:168451"} xref: Orphanet:168451 {source="MONDO:equivalentTo", source="OMIM:601668"} xref: UMLS:C1866507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601668", source="Orphanet:168451"} is_a: MONDO:0016761 {source="Orphanet:168451"} ! spondyloepiphyseal dysplasia @@ -218621,7 +218569,7 @@ synonym: "Freeman-Sheldon syndrome variant" EXACT [DOID:0111599, Orphanet:1147] synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, OMIM:601680] xref: DOID:0111599 {source="MONDO:equivalentTo"} xref: GARD:0009909 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q68.8 {source="Orphanet:1147", source="ORDO:1147/attributed", source="ORDO:1147/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:1147/attributed", source="Orphanet:1147/ntbt", source="Orphanet:1147"} xref: MESH:C538400 {source="DOID:0111599"} xref: OMIM:616266 {source="MONDO:subClassOf", source="Orphanet:1147"} xref: Orphanet:1147 {source="MONDO:equivalentTo", source="DOID:0111599", source="OMIM:601680"} @@ -218671,7 +218619,7 @@ synonym: "Todv syndrome" RELATED [OMIM:601701] synonym: "Trichooculodermovertebral syndrome" RELATED [OMIM:601701] xref: GARD:0001553 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C537441 {source="MONDO:equivalentTo"} -xref: OMIM:601701 {source="Orphanet:3354", source="ORDO:3354/e", source="MONDO:equivalentTo"} +xref: OMIM:601701 {source="Orphanet:3354", source="MONDO:equivalentTo", source="Orphanet:3354/e"} xref: Orphanet:3354 {source="MONDO:equivalentObsolete", source="OMIM:601701"} xref: UMLS:C1866427 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601701"} xref: UMLS:C2931256 {source="Orphanet:3354", source="MONDO:notFoundInDiseaseSubset"} @@ -218695,9 +218643,9 @@ synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXAC synonym: "winged helix deficiency" EXACT [DOID:0060769, Orphanet:169095] xref: DOID:0060769 {source="MONDO:equivalentTo"} xref: GARD:0004358 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.8 {source="ORDO:169095/attributed", source="ORDO:169095/ntbt", source="DOID:0060769", source="Orphanet:169095"} +xref: ICD10CM:D82.8 {source="DOID:0060769", source="Orphanet:169095/attributed", source="Orphanet:169095/ntbt", source="Orphanet:169095"} xref: MESH:C536781 {source="MONDO:equivalentTo"} -xref: OMIM:601705 {source="MONDO:equivalentTo", source="ORDO:169095/e", source="DOID:0060769", source="Orphanet:169095"} +xref: OMIM:601705 {source="Orphanet:169095/e", source="MONDO:equivalentTo", source="DOID:0060769", source="Orphanet:169095"} xref: Orphanet:169095 {source="MONDO:equivalentTo", source="DOID:0060769", source="OMIM:601705"} xref: SCTID:720345008 {source="MONDO:equivalentTo"} xref: UMLS:C1866426 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601705"} @@ -218719,11 +218667,11 @@ synonym: "Warburg-Thomsen syndrome" EXACT [Orphanet:3214] synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" RELATED [GARD:0005535] synonym: "Yemenite deaf-blind hypopigmentation syndrome" EXACT [OMIM:601706, Orphanet:3214] xref: GARD:0005535 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536771 {source="ORDO:3214/e", source="Orphanet:3214", source="MONDO:equivalentTo"} -xref: OMIM:601706 {source="ORDO:3214/e", source="Orphanet:3214", source="MONDO:equivalentTo"} +xref: MESH:C536771 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} +xref: OMIM:601706 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"} xref: SCTID:721084001 {source="MONDO:equivalentTo"} -xref: UMLS:C1866425 {source="ORDO:3214/e", source="NCBI:mim2gene_medline", source="Orphanet:3214", source="MONDO:equivalentTo", source="OMIM:601706"} +xref: UMLS:C1866425 {source="NCBI:mim2gene_medline", source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e", source="OMIM:601706"} is_a: MONDO:0019290 {source="MESH:C536771", source="Orphanet:3214"} ! hypopigmentation of the skin is_a: MONDO:0019589 {source="Orphanet:3214"} ! syndromic genetic hearing loss property_value: confidence "7.125" xsd:double @@ -218743,9 +218691,9 @@ synonym: "curry-JONES syndrome" RELATED [OMIM:601707] synonym: "curry-Jones syndrome" EXACT [OMIM:601707] synonym: "Curry-Jones syndrome, somatic mosaic" EXACT [OMIM:601707, OMIM:genemap2] xref: GARD:0005584 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:1553", source="ORDO:1553/attributed", source="ORDO:1553/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:1553/attributed", source="Orphanet:1553/ntbt", source="Orphanet:1553"} xref: MESH:C536735 {source="MONDO:equivalentTo"} -xref: OMIM:601707 {source="ORDO:1553/e", source="Orphanet:1553", source="MONDO:equivalentTo"} +xref: OMIM:601707 {source="Orphanet:1553", source="MONDO:equivalentTo", source="Orphanet:1553/e"} xref: Orphanet:1553 {source="MONDO:equivalentTo", source="OMIM:601707"} xref: SCTID:720819006 {source="MONDO:equivalentTo"} xref: UMLS:C0795915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601707"} @@ -218781,11 +218729,11 @@ synonym: "QPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601709] synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709] xref: DOID:0111050 {source="MONDO:equivalentTo"} xref: GARD:0008345 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.1 {source="ORDO:220436/attributed", source="ORDO:220436/ntbt", source="DOID:0111050", source="Orphanet:220436"} -xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="ORDO:220436/e"} -xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="ORDO:220436/e"} +xref: ICD10CM:D69.1 {source="DOID:0111050", source="Orphanet:220436", source="Orphanet:220436/attributed", source="Orphanet:220436/ntbt"} +xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} +xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: Orphanet:220436 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo"} -xref: UMLS:C1866423 {source="OMIM:601709", source="DOID:0111050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:220436", source="ORDO:220436/e"} +xref: UMLS:C1866423 {source="OMIM:601709", source="DOID:0111050", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} is_a: MONDO:0000009 {source="DC-OMIM:601709", source="MONDO:Redundant", source="OMIM:601709", source="indirect"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0020117 {source="Orphanet:220436"} ! alpha granule disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9052 {source="mim2gene_medgen"} ! PLAU @@ -218848,7 +218796,7 @@ xref: MESH:C566632 {source="MONDO:equivalentTo"} xref: OMIM:601759 {source="MONDO:equivalentTo"} xref: Orphanet:1926 {source="MONDO:subClassOf", source="OMIM:601759"} xref: UMLS:C1866339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601759"} -is_a: MONDO:0016018 {source="ORDO:1926/btnt"} ! diabetic embryopathy +is_a: MONDO:0016018 {source="Orphanet:1926/btnt"} ! diabetic embryopathy property_value: confidence "37.499999999999936" xsd:double [Term] @@ -218908,10 +218856,10 @@ synonym: "musculocontractural EDS" RELATED [GARD:0008486] synonym: "musculocontractural Ehlers-Danlos syndrome" EXACT [Orphanet:2953] xref: GARD:0000545 {source="MONDO:equivalentTo"} xref: GARD:0008486 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:2953/attributed", source="ORDO:2953/ntbt", source="Orphanet:2953"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:2953", source="Orphanet:2953/attributed", source="Orphanet:2953/ntbt"} xref: MESH:C000600608 {source="MONDO:equivalentTo"} -xref: OMIM:601776 {source="GARD:0000545", source="Orphanet:2953", source="MONDO:superClassOf", source="ORDO:2953/e"} -xref: OMIM:615539 {source="ORDO:2953/btnt", source="Orphanet:2953", source="MONDO:superClassOf"} +xref: OMIM:601776 {source="GARD:0000545", source="Orphanet:2953", source="MONDO:superClassOf", source="Orphanet:2953/e"} +xref: OMIM:615539 {source="Orphanet:2953", source="MONDO:superClassOf", source="Orphanet:2953/btnt"} xref: Orphanet:2953 {source="MONDO:equivalentTo"} xref: SCTID:720860004 {source="MONDO:equivalentTo"} xref: UMLS:C1866294 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601776"} @@ -218979,16 +218927,16 @@ synonym: "neuronal ceroid lipofuscinosis, late infantile, variant" EXACT [OMIM:6 synonym: "vLINCL" EXACT ABBREVIATION [OMIM:601780] xref: DOID:0110729 {source="MONDO:equivalentTo"} xref: GARD:0001224 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:228363/attributed", source="ORDO:228363/ntbt", source="DOID:0110729", source="Orphanet:228363"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110729", source="Orphanet:228363/attributed", source="Orphanet:228363/ntbt", source="Orphanet:228363"} xref: MESH:C566627 {source="MONDO:equivalentTo"} -xref: OMIM:601780 {source="MONDO:equivalentTo", source="DOID:0110729", source="ORDO:228363/e", source="Orphanet:228363"} +xref: OMIM:601780 {source="Orphanet:228363/e", source="MONDO:equivalentTo", source="DOID:0110729", source="Orphanet:228363"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:601780"} xref: Orphanet:228363 {source="MONDO:equivalentTo", source="DOID:0110729", source="OMIM:601780"} xref: Orphanet:79262 {source="MONDO:subClassOf", source="OMIM:601780"} xref: UMLS:C1866282 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228363", source="OMIM:601780"} -is_a: MONDO:0015674 {source="MONDO:Redundant", source="ORDO:168491/btnt", source="Orphanet:228363"} ! late infantile neuronal ceroid lipofuscinosis +is_a: MONDO:0015674 {source="MONDO:Redundant", source="Orphanet:168491/btnt", source="Orphanet:228363"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0016295 {source="DOID", source="DOID:0110729", source="MONDO:Redundant", source="OMIM:601780", source="Orphanet:228363/inferred"} ! neuronal ceroid lipofuscinosis -is_a: MONDO:0019260 {source="MONDO:Redundant", source="ORDO:79262/btnt", source="Orphanet:228363", source="indirect"} ! adult neuronal ceroid lipofuscinosis +is_a: MONDO:0019260 {source="MONDO:Redundant", source="Orphanet:228363", source="Orphanet:79262/btnt", source="indirect"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0015674 ! late infantile neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2077 ! CLN6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2077 {source="mim2gene_medgen"} ! CLN6 @@ -219001,9 +218949,9 @@ name: colobomatous microphthalmia - obesity - hypogenitalism - intellectual disa subset: ordo_disease {source="Orphanet:363741"} synonym: "coloboma-obesity-hypogenitalism-intellectual disability syndrome" RELATED [OMIM:601794] synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED DEPRECATED [OMIM:601794] -xref: ICD10CM:Q87.8 {source="ORDO:363741/attributed", source="ORDO:363741/ntbt", source="Orphanet:363741"} +xref: ICD10CM:Q87.8 {source="Orphanet:363741", source="Orphanet:363741/attributed", source="Orphanet:363741/ntbt"} xref: MESH:C566623 {source="MONDO:equivalentTo"} -xref: OMIM:601794 {source="ORDO:363741/e", source="MONDO:equivalentTo", source="Orphanet:363741"} +xref: OMIM:601794 {source="MONDO:equivalentTo", source="Orphanet:363741", source="Orphanet:363741/e"} xref: Orphanet:363741 {source="OMIM:601794", source="MONDO:equivalentTo"} xref: UMLS:C1866256 {source="OMIM:601794", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:363741"} is_a: MONDO:0015159 {source="Orphanet:363741"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -219033,14 +218981,14 @@ synonym: "Teschler-Nicola Killian syndrome" RELATED [GARD:0008421] synonym: "tetrasomy 12P, Mosaic" RELATED [OMIM:601803] synonym: "tetrasomy type 12p" EXACT [MONDORULE:4, Orphanet:884] xref: GARD:0008421 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q99.8 {source="Orphanet:884", source="ORDO:884/attributed", source="ORDO:884/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:884", source="Orphanet:884/attributed", source="Orphanet:884/ntbt"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538105 {source="MONDO:equivalentTo"} xref: NCIT:C75458 {source="MONDO:equivalentTo"} -xref: OMIM:601803 {source="Orphanet:884", source="MONDO:equivalentTo", source="ORDO:884/e"} +xref: OMIM:601803 {source="Orphanet:884", source="MONDO:equivalentTo", source="Orphanet:884/e"} xref: Orphanet:884 {source="MONDO:equivalentTo", source="OMIM:601803"} xref: SCTID:9527009 {source="MONDO:equivalentTo"} -xref: UMLS:C0265449 {source="Orphanet:884", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601803", source="ORDO:884/e", source="NCIT:C75458"} +xref: UMLS:C0265449 {source="Orphanet:884", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:884/e", source="OMIM:601803", source="NCIT:C75458"} xref: UMLS:C2748628 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:601803"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75458", source="indirect"} ! syndromic disease is_a: MONDO:0005027 {source="MONDO:0015652-obsoleted"} ! epilepsy @@ -219085,17 +219033,17 @@ synonym: "proximal chromosome 18q deletion syndrome" NARROW [GARD:0010866] xref: DOID:0060407 {source="MONDO:equivalentTo"} xref: GARD:0010866 {source="MONDO:superClassOf", source="Orphanet-shared"} xref: GARD:0013000 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:1600/attributed", source="ORDO:1600/ntbt", source="ORDO:262146/attributed", source="ORDO:262146/ntbt", source="Orphanet:1600", source="Orphanet:262146", source="DOID:0060407"} +xref: ICD10CM:Q93.5 {source="Orphanet:1600", source="Orphanet:262146", source="DOID:0060407", source="Orphanet:1600/attributed", source="Orphanet:1600/ntbt", source="Orphanet:262146/attributed", source="Orphanet:262146/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536580 {source="MONDO:equivalentTo", source="DOID:0060407"} xref: NCIT:C84522 {source="MONDO:equivalentTo"} -xref: OMIM:601808 {source="MONDO:equivalentTo", source="Orphanet:1600", source="ORDO:1600/e", source="DOID:0060407"} +xref: OMIM:601808 {source="MONDO:equivalentTo", source="Orphanet:1600", source="Orphanet:1600/e", source="DOID:0060407"} xref: Orphanet:1600 {source="OMIM:601808", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060407"} xref: Orphanet:262146 {source="MONDO:equivalentTo"} xref: SCTID:270889005 {source="MONDO:equivalentTo"} xref: UMLS:C0265472 {source="Orphanet:262146", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0432443 {source="OMIM:601808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1600", source="ORDO:1600/e", source="NCIT:C84522"} -xref: UMLS:C2931249 {source="Orphanet:1600", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1600/e"} +xref: UMLS:C0432443 {source="OMIM:601808", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1600", source="Orphanet:1600/e", source="NCIT:C84522"} +xref: UMLS:C2931249 {source="Orphanet:1600", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1600/e"} is_a: MONDO:0000761 {source="DC-OMIM:601808", source="DOID:0060407"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84522", source="indirect"} ! syndromic disease is_a: MONDO:0005027 {source="MONDO:0015652-obsoleted"} ! epilepsy @@ -219146,9 +219094,9 @@ synonym: "prematurely aged appearance, delayed bone maturation, acro-osteolysis, synonym: "progeroid syndrome, Penttinen type" RELATED [GARD:0004498] xref: GARD:0004276 {source="MONDO:equivalentTo"} xref: GARD:0004498 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.8 {source="ORDO:363665/attributed", source="ORDO:363665/ntbt", source="Orphanet:363665"} +xref: ICD10CM:E34.8 {source="Orphanet:363665", source="Orphanet:363665/attributed", source="Orphanet:363665/ntbt"} xref: MESH:C536653 {source="MONDO:equivalentTo"} -xref: OMIM:601812 {source="GARD:0004498", source="MONDO:equivalentTo", source="Orphanet:363665", source="ORDO:363665/e", source="GARD:0004276"} +xref: OMIM:601812 {source="GARD:0004498", source="MONDO:equivalentTo", source="Orphanet:363665", source="Orphanet:363665/e", source="GARD:0004276"} xref: Orphanet:363665 {source="MONDO:equivalentTo", source="OMIM:601812"} xref: UMLS:C1866182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:363665", source="OMIM:601812", source="GARD:0004276"} is_a: MONDO:0015333 {source="Orphanet:363665"} ! progeroid syndrome @@ -219181,11 +219129,11 @@ synonym: "PHGDH deficiency" EXACT [OMIM:601815] synonym: "PHGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601815] synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency" EXACT [DOID:0050722, MONDO:Lexical, OMIM:601815] xref: DOID:0050722 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="ORDO:79351/attributed", source="ORDO:79351/ntbt", source="Orphanet:79351"} +xref: ICD10CM:E72.8 {source="Orphanet:79351", source="Orphanet:79351/attributed", source="Orphanet:79351/ntbt"} xref: MESH:C566618 {source="MONDO:equivalentTo"} -xref: OMIM:601815 {source="DOID:0050722", source="MONDO:equivalentTo", source="ORDO:79351/e", source="Orphanet:79351"} +xref: OMIM:601815 {source="DOID:0050722", source="MONDO:equivalentTo", source="Orphanet:79351", source="Orphanet:79351/e"} xref: Orphanet:79351 {source="MONDO:equivalentTo", source="OMIM:601815"} -xref: UMLS:C0580190 {source="MONDO:subClassOf", source="ORDO:79351/e", source="Orphanet:79351"} +xref: UMLS:C0580190 {source="MONDO:subClassOf", source="Orphanet:79351", source="Orphanet:79351/e"} xref: UMLS:C1866174 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601815"} is_a: MONDO:0000508 {source="Orphanet:79351"} ! syndromic intellectual disability is_a: MONDO:0018491 {source="Orphanet:79351"} ! 3-phosphoglycerate dehydrogenase deficiency @@ -219243,12 +219191,12 @@ synonym: "Palagonia form of AFD" RELATED [GARD:0000499] synonym: "Palagonia type of acrofacial dysostosis" EXACT [MESH:C538185] xref: DOID:0060385 {source="MONDO:equivalentTo"} xref: GARD:0000499 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.4 {source="ORDO:1787/attributed", source="ORDO:1787/ntbt", source="Orphanet:1787"} -xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="ORDO:1787/e"} -xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="ORDO:1787/e"} +xref: ICD10CM:Q75.4 {source="Orphanet:1787", source="Orphanet:1787/attributed", source="Orphanet:1787/ntbt"} +xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} +xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} xref: Orphanet:1787 {source="DOID:0060385", source="MONDO:equivalentTo", source="OMIM:601829"} xref: SCTID:720429007 {source="MONDO:equivalentTo"} -xref: UMLS:C1866168 {source="DOID:0060385", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1787", source="ORDO:1787/e", source="OMIM:601829"} +xref: UMLS:C1866168 {source="DOID:0060385", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e", source="OMIM:601829"} is_a: MONDO:0015334 {source="Orphanet:1787"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="DC-OMIM:601829", source="DOID:0060385", source="Orphanet:1787"} ! acrofacial dysostosis property_value: confidence "15.50000000000001" xsd:double @@ -219282,13 +219230,13 @@ synonym: "progressive familial intrahepatic cholestasis type 2" EXACT CLINGEN_PR synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288] xref: DOID:0070222 {source="MONDO:equivalentTo"} xref: GARD:0001288 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="Orphanet:79304", source="ORDO:79304/attributed", source="ORDO:79304/ntbt"} -xref: MESH:C535934 {source="MONDO:subClassOf", source="Orphanet:79304", source="ORDO:79304/e"} -xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="ORDO:79304/e"} -xref: OMIM:615878 {source="Orphanet:79304", source="ORDO:79304/btnt", source="MONDO:directSiblingOf"} +xref: ICD10CM:K76.8 {source="Orphanet:79304", source="Orphanet:79304/attributed", source="Orphanet:79304/ntbt"} +xref: MESH:C535934 {source="MONDO:subClassOf", source="Orphanet:79304", source="Orphanet:79304/e"} +xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="Orphanet:79304/e"} +xref: OMIM:615878 {source="Orphanet:79304", source="Orphanet:79304/btnt", source="MONDO:directSiblingOf"} xref: Orphanet:172 {source="MONDO:subClassOf", source="OMIM:601847"} xref: Orphanet:79304 {source="MONDO:equivalentTo", source="OMIM:601847"} -xref: UMLS:C1866138 {source="Orphanet:79304", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79304/e"} +xref: UMLS:C1866138 {source="Orphanet:79304", source="NCBI:mim2gene_medline", source="Orphanet:79304/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3489789 {source="Orphanet:79304", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601847"} xref: UMLS:CN205889 {source="MONDO:equivalentTo"} is_a: MONDO:0011559 ! benign recurrent intrahepatic cholestasis type 2 @@ -219318,9 +219266,9 @@ synonym: "Gomez-Lopez-Hernandez syndrome" EXACT [MONDO:Lexical, OMIM:601853] synonym: "Gomez-Lopez-Hernández syndrome" RELATED [GARD:0000229] synonym: "Gómez-López-Hernández syndrome" RELATED [Orphanet:1532] xref: GARD:0000229 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q07.8 {source="Orphanet:1532", source="ORDO:1532/attributed", source="ORDO:1532/ntbt"} +xref: ICD10CM:Q07.8 {source="Orphanet:1532/attributed", source="Orphanet:1532/ntbt", source="Orphanet:1532"} xref: MESH:C537285 {source="MONDO:equivalentTo"} -xref: OMIM:601853 {source="Orphanet:1532", source="ORDO:1532/e", source="MONDO:equivalentTo", source="GARD:0000229"} +xref: OMIM:601853 {source="Orphanet:1532", source="MONDO:equivalentTo", source="Orphanet:1532/e", source="GARD:0000229"} xref: Orphanet:1532 {source="MONDO:equivalentTo", source="OMIM:601853", source="GARD:0000229"} xref: SCTID:722451006 {source="MONDO:equivalentTo"} xref: UMLS:C0795959 {source="Orphanet:1532", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601853", source="GARD:0000229"} @@ -219365,8 +219313,7 @@ synonym: "autosomal dominant nonsyndromic deafness 13" NARROW [OMIM:601868] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 13" NARROW [DOID:0110545, MONDORULE:2] synonym: "COL11A2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 13" NARROW [OMIM:601868, OMIM:genemap2] -synonym: "deafness, autosomal dominant 13" NARROW [MONDO:Lexical, OMIM:601868] +synonym: "deafness, autosomal dominant 13" NARROW [MONDO:Lexical, OMIM:601868, OMIM:genemap2] synonym: "deafness, autosomal dominant type 13" NARROW [MONDORULE:2, OMIM:601868] synonym: "DFNA13" NARROW ABBREVIATION [DOID:0110545, MONDO:Lexical, OMIM:601868] xref: DOID:0110545 {source="MONDO:equivalentTo"} @@ -219391,8 +219338,7 @@ synonym: "autosomal recessive deafness 95" NARROW [DOID:0110470] synonym: "autosomal recessive nonsyndromic deafness 15" NARROW CLINGEN_PREFERRED [OMIM:601869] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 15" NARROW [DOID:0110470, MONDORULE:2] -synonym: "deafness, autosomal recessive 15" NARROW [MONDO:Lexical, OMIM:601869] -synonym: "deafness, autosomal recessive 15" NARROW [OMIM:601869, OMIM:genemap2] +synonym: "deafness, autosomal recessive 15" NARROW [MONDO:Lexical, OMIM:601869, OMIM:genemap2] synonym: "deafness, autosomal recessive 72" NARROW [OMIM:601869] synonym: "deafness, autosomal recessive 95" NARROW [OMIM:601869] synonym: "deafness, autosomal recessive type 15" NARROW [MONDORULE:2, OMIM:601869] @@ -219447,7 +219393,7 @@ xref: Orphanet:98991 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: Orphanet:98993 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:601885"} xref: UMLS:C1866078 {source="OMIM:601885", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110253", source="MESH:C566608", source="MONDO:Redundant", source="OMIM:601885", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4277 ! GJA3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4277 {source="mim2gene_medgen"} ! GJA3 @@ -219522,7 +219468,7 @@ xref: OMIM:601894 {source="MONDO:equivalentTo"} xref: Orphanet:84090 {source="MONDO:subClassOf", source="OMIM:601894"} xref: SCTID:722759007 {source="MONDO:equivalentTo"} xref: UMLS:C1866075 {source="OMIM:601894", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007671 {source="MONDO:Redundant", source="OMIM:601894", source="ORDO:84090/btnt"} ! fibronectin glomerulopathy +is_a: MONDO:0007671 {source="MONDO:Redundant", source="OMIM:601894", source="Orphanet:84090/btnt"} ! fibronectin glomerulopathy intersection_of: MONDO:0007671 ! fibronectin glomerulopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3778 ! FN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3778 {source="mim2gene_medgen"} ! FN1 @@ -219542,10 +219488,10 @@ synonym: "lymphedema, atrial septal defect, and characteristic facial changes" R synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [OMIM:601927] synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [OMIM:601927] xref: GARD:0000284 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:86915/attributed", source="ORDO:86915/ntbt", source="Orphanet:86915"} +xref: ICD10CM:Q87.8 {source="Orphanet:86915", source="Orphanet:86915/attributed", source="Orphanet:86915/ntbt"} xref: MESH:C535539 {source="MONDO:equivalentTo"} xref: MESH:C567398 {source="MONDO:equivalentTo"} -xref: OMIM:601927 {source="MONDO:equivalentTo", source="ORDO:86915/e", source="Orphanet:86915", source="GARD:0000284"} +xref: OMIM:601927 {source="Orphanet:86915/e", source="MONDO:equivalentTo", source="Orphanet:86915", source="GARD:0000284"} xref: Orphanet:86915 {source="MONDO:equivalentTo", source="OMIM:601927"} xref: SCTID:721978002 {source="MONDO:equivalentTo"} xref: UMLS:C2677167 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86915", source="OMIM:601927"} @@ -219605,9 +219551,9 @@ synonym: "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrom synonym: "KLICK" RELATED ABBREVIATION [OMIM:601952] synonym: "KLICK syndrome" EXACT [Orphanet:281201] synonym: "Klick syndrome" RELATED [OMIM:601952] -xref: ICD10CM:Q82.8 {source="ORDO:281201/attributed", source="ORDO:281201/ntbt", source="Orphanet:281201"} +xref: ICD10CM:Q82.8 {source="Orphanet:281201/attributed", source="Orphanet:281201/ntbt", source="Orphanet:281201"} xref: MESH:C566600 {source="MONDO:equivalentTo"} -xref: OMIM:601952 {source="MONDO:equivalentTo", source="ORDO:281201/e", source="Orphanet:281201"} +xref: OMIM:601952 {source="Orphanet:281201/e", source="MONDO:equivalentTo", source="Orphanet:281201"} xref: Orphanet:281201 {source="MONDO:equivalentTo", source="OMIM:601952"} xref: SCTID:763775000 {source="MONDO:equivalentTo"} xref: UMLS:C1866029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601952", source="Orphanet:281201"} @@ -219632,9 +219578,9 @@ synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO: synonym: "Tcap autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110281 {source="MONDO:equivalentTo"} xref: GARD:0010471 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:34514", source="ORDO:34514/inclusion", source="DOID:0110281", source="ORDO:34514/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:34514/inclusion", source="Orphanet:34514", source="Orphanet:34514/ntbt", source="DOID:0110281"} xref: MESH:C566599 {source="MONDO:equivalentTo"} -xref: OMIM:601954 {source="ORDO:34514/e", source="Orphanet:34514", source="MONDO:equivalentTo", source="DOID:0110281"} +xref: OMIM:601954 {source="Orphanet:34514", source="MONDO:equivalentTo", source="DOID:0110281", source="Orphanet:34514/e"} xref: Orphanet:34514 {source="MONDO:equivalentTo", source="DOID:0110281", source="OMIM:601954"} xref: SCTID:720522001 {source="MONDO:equivalentTo"} xref: UMLS:C1866008 {source="Orphanet:34514", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601954"} @@ -219656,7 +219602,7 @@ synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957] synonym: "OTUDP syndrome" EXACT [Orphanet:69082] synonym: "Otudp syndrome" RELATED [OMIM:601957] xref: MESH:C566598 {source="MONDO:equivalentTo"} -xref: OMIM:601957 {source="ORDO:69082/e", source="Orphanet:69082", source="MONDO:equivalentTo"} +xref: OMIM:601957 {source="Orphanet:69082", source="MONDO:equivalentTo", source="Orphanet:69082/e"} xref: Orphanet:69082 {source="MONDO:equivalentTo", source="OMIM:601957"} xref: SCTID:722063009 {source="MONDO:equivalentTo"} xref: UMLS:C1865998 {source="Orphanet:69082", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:601957"} @@ -219715,7 +219661,7 @@ xref: MESH:C566594 {source="MONDO:equivalentTo"} xref: OMIM:601992 {source="MONDO:equivalentTo"} xref: Orphanet:95 {source="MONDO:subClassOf", source="OMIM:601992"} xref: UMLS:C1865981 {source="OMIM:601992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0100339 {source="MESH:C566594", source="ORDO:95/btnt", source="https://github.com/monarch-initiative/mondo/issues/2807"} ! Friedreich ataxia +is_a: MONDO:0100339 {source="MESH:C566594", source="Orphanet:95/btnt", source="https://github.com/monarch-initiative/mondo/issues/2807"} ! Friedreich ataxia property_value: confidence "1.7529411764705887" xsd:double [Term] @@ -219742,9 +219688,9 @@ synonym: "TRPM6 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_s synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060883 {source="MONDO:equivalentTo"} xref: GARD:0013072 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E83.4 {source="DOID:0060883", source="ORDO:30924/attributed", source="ORDO:30924/ntbt", source="Orphanet:30924"} +xref: ICD10CM:E83.4 {source="DOID:0060883", source="Orphanet:30924/attributed", source="Orphanet:30924/ntbt", source="Orphanet:30924"} xref: MESH:C566593 {source="MONDO:equivalentTo"} -xref: OMIM:602014 {source="DOID:0060883", source="MONDO:equivalentTo", source="ORDO:30924/e", source="Orphanet:30924"} +xref: OMIM:602014 {source="Orphanet:30924/e", source="DOID:0060883", source="MONDO:equivalentTo", source="Orphanet:30924"} xref: Orphanet:30924 {source="OMIM:602014", source="DOID:0060883", source="MONDO:equivalentTo"} xref: SCTID:190856003 {source="MONDO:equivalentTo"} xref: UMLS:C0269941 {source="OMIM:602014", source="MONDO:notFoundInDiseaseSubset"} @@ -219775,7 +219721,7 @@ xref: OMIM:602032 {source="MONDO:equivalentTo", source="GARD:0004364"} xref: Orphanet:69084 {source="MONDO:subClassOf", source="OMIM:602032"} xref: UMLS:C1865951 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:602032"} xref: UMLS:C2931483 {source="MONDO:directSiblingOf", source="GARD:0004364"} -is_a: MONDO:0019071 {source="MONDO:Redundant", source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MESH:C566592", source="MONDO:Redundant", source="OMIM:602032", source="indirect"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6462 ! KRT85 @@ -219798,10 +219744,10 @@ synonym: "paroxysmal kinesigenic dyskinesia and infantile convulsions" EXACT [Or synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [OMIM:602066] synonym: "PKD/IC" EXACT [NCIT:C126650] xref: GARD:0008553 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.4 {source="ORDO:31709/attributed", source="ORDO:31709/ntbt", source="Orphanet:31709"} +xref: ICD10CM:G40.4 {source="Orphanet:31709/attributed", source="Orphanet:31709/ntbt", source="Orphanet:31709"} xref: MESH:C535522 {source="MONDO:equivalentTo"} xref: NCIT:C126650 {source="MONDO:equivalentTo"} -xref: OMIM:602066 {source="MONDO:equivalentTo", source="ORDO:31709/e", source="Orphanet:31709"} +xref: OMIM:602066 {source="Orphanet:31709/e", source="MONDO:equivalentTo", source="Orphanet:31709"} xref: Orphanet:31709 {source="MONDO:equivalentTo", source="OMIM:602066"} xref: SCTID:715534008 {source="MONDO:equivalentTo"} xref: UMLS:C1865926 {source="NCBI:mim2gene_medline", source="NCIT:C126650", source="MONDO:equivalentTo", source="OMIM:602066", source="Orphanet:31709"} @@ -219843,7 +219789,7 @@ xref: MESH:C566587 {source="MONDO:equivalentTo"} xref: OMIM:602078 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:602078"} xref: UMLS:C1865915 {source="OMIM:602078", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:602078", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:602078", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/691 ! PHOX2A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/691 {source="mim2gene_medgen"} ! PHOX2A @@ -219908,7 +219854,7 @@ synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orph synonym: "speech-language disorder-1" RELATED [GARD:0012889] xref: GARD:0012889 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:315.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:602081 {source="MONDO:equivalentTo", source="ORDO:209908/e", source="Orphanet:209908"} +xref: OMIM:602081 {source="MONDO:equivalentTo", source="Orphanet:209908", source="Orphanet:209908/e"} xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"} xref: SCTID:229703009 {source="MONDO:equivalentTo"} xref: UMLS:C0750927 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:602081"} @@ -219944,13 +219890,13 @@ synonym: "Thiel-Behnke corneal dystrophy" EXACT [OMIM:602082] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98960] xref: DOID:0060455 {source="MONDO:equivalentTo"} xref: GARD:0009275 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:98960", source="ORDO:98960/attributed", source="ORDO:98960/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98960", source="Orphanet:98960/attributed", source="Orphanet:98960/ntbt"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="ORDO:98960/e"} -xref: OMIM:602082 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="GARD:0009275", source="ORDO:98960/e"} +xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e"} +xref: OMIM:602082 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e", source="GARD:0009275"} xref: Orphanet:98960 {source="DOID:0060455", source="MONDO:equivalentTo", source="OMIM:602082", source="GARD:0009275"} xref: SCTID:417065002 {source="DOID:0060455", source="MONDO:equivalentTo"} -xref: UMLS:C1562894 {source="Orphanet:98960", source="DOID:0060455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602082", source="GARD:0009275", source="ORDO:98960/e"} +xref: UMLS:C1562894 {source="Orphanet:98960", source="DOID:0060455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98960/e", source="OMIM:602082", source="GARD:0009275"} is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98960"} ! superficial corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI @@ -219991,7 +219937,7 @@ xref: MESH:C566585 {source="MONDO:equivalentTo"} xref: OMIM:602085 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="MONDO:subClassOf", source="OMIM:602085"} xref: UMLS:C1865883 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602085"} -is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A +is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A property_value: confidence "0.7021276595744683" xsd:double [Term] @@ -220010,7 +219956,7 @@ xref: MESH:C566584 {source="MONDO:equivalentTo"} xref: OMIM:602086 {source="MONDO:equivalentTo", source="DOID:0110072"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:602086"} xref: UMLS:C1865882 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602086"} -is_a: MONDO:0016342 {source="DOID:0110072", source="MESH:C566584", source="MONDO:Redundant", source="OMIM:602086", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110072", source="MESH:C566584", source="MONDO:Redundant", source="OMIM:602086", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: confidence "0.23456790123456783" xsd:double [Term] @@ -220029,7 +219975,7 @@ xref: MESH:C566583 {source="MONDO:equivalentTo"} xref: OMIM:602087 {source="DOID:0110073", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:602087"} xref: UMLS:C1865881 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602087"} -is_a: MONDO:0016342 {source="DOID:0110073", source="MESH:C566583", source="MONDO:Redundant", source="OMIM:602087", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110073", source="MESH:C566583", source="MONDO:Redundant", source="OMIM:602087", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: confidence "0.23456790123456783" xsd:double [Term] @@ -220148,7 +220094,7 @@ xref: ICD10CM:G30 {source="MONDO:subClassOf", source="DOID:0110037"} xref: MESH:C566578 {source="MONDO:equivalentTo"} xref: OMIM:602096 {source="MONDO:equivalentTo"} xref: UMLS:C1865868 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602096"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -220192,7 +220138,7 @@ xref: OMIM:602099 {source="DOID:0060197", source="MONDO:equivalentTo"} xref: Orphanet:300605 {source="MONDO:subClassOf", source="OMIM:602099"} xref: UMLS:C1865864 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602099"} is_a: MONDO:0005144 {source="DC-OMIM:602099", source="DOID:0060197", source="MESH:C566576", source="MONDO:Redundant", source="OMIM:602099"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017593 {source="ORDO:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis +is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11226 ! SPG11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11226 {source="mim2gene_medgen"} ! SPG11 @@ -220205,9 +220151,9 @@ name: hereditary thermosensitive neuropathy def: "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." [Orphanet:84093] subset: ordo_disease {source="Orphanet:84093"} synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107] -xref: ICD10CM:G60.0 {source="ORDO:84093/attributed", source="ORDO:84093/ntbt", source="Orphanet:84093"} +xref: ICD10CM:G60.0 {source="Orphanet:84093/attributed", source="Orphanet:84093/ntbt", source="Orphanet:84093"} xref: MESH:C566575 {source="MONDO:equivalentTo"} -xref: OMIM:602107 {source="MONDO:equivalentTo", source="ORDO:84093/e", source="Orphanet:84093"} +xref: OMIM:602107 {source="Orphanet:84093/e", source="MONDO:equivalentTo", source="Orphanet:84093"} xref: Orphanet:84093 {source="MONDO:equivalentTo", source="OMIM:602107"} xref: SCTID:715645004 {source="MONDO:equivalentTo"} xref: UMLS:C1865856 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602107", source="Orphanet:84093"} @@ -220230,8 +220176,8 @@ synonym: "spondyloepimetaphyseal dysplasia type 2" EXACT [Orphanet:93356] synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111] xref: DOID:0080030 {source="MONDO:equivalentTo"} xref: GARD:0010618 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:93356", source="ORDO:93356/attributed", source="ORDO:93356/ntbt"} -xref: OMIM:602111 {source="DOID:0080030", source="ORDO:93356/e", source="MONDO:equivalentTo", source="Orphanet:93356"} +xref: ICD10CM:Q77.7 {source="Orphanet:93356", source="Orphanet:93356/attributed", source="Orphanet:93356/ntbt"} +xref: OMIM:602111 {source="DOID:0080030", source="MONDO:equivalentTo", source="Orphanet:93356", source="Orphanet:93356/e"} xref: Orphanet:1040 {source="OMIM:602111", source="MONDO:superClassOf"} xref: Orphanet:93356 {source="OMIM:602111", source="MONDO:equivalentTo"} xref: SCTID:719171005 {source="MONDO:equivalentTo"} @@ -220253,7 +220199,7 @@ xref: MESH:C566573 {source="MONDO:equivalentTo"} xref: OMIM:602114 {source="MONDO:equivalentTo"} xref: Orphanet:171 {source="MONDO:subClassOf", source="OMIM:602114"} xref: UMLS:C1865831 {source="OMIM:602114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0013433 {source="ORDO:171/btnt"} ! primary sclerosing cholangitis +is_a: MONDO:0013433 {source="Orphanet:171/btnt"} ! primary sclerosing cholangitis property_value: confidence "15.500000000000014" xsd:double [Term] @@ -220304,11 +220250,11 @@ synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skel synonym: "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" EXACT [Orphanet:140976] synonym: "RHYNS syndrome" EXACT [OMIM:602152] xref: GARD:0009681 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C537612 {source="MONDO:equivalentTo", source="Orphanet:140976", source="ORDO:140976/e"} -xref: OMIM:602152 {source="MONDO:equivalentTo", source="Orphanet:140976", source="ORDO:140976/e"} +xref: MESH:C537612 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} +xref: OMIM:602152 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} xref: Orphanet:140976 {source="MONDO:equivalentTo", source="OMIM:602152"} xref: SCTID:723999009 {source="MONDO:equivalentTo"} -xref: UMLS:C1865794 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602152", source="Orphanet:140976", source="ORDO:140976/e"} +xref: UMLS:C1865794 {source="Orphanet:140976/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602152", source="Orphanet:140976"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:140976"} ! inherited renal tubular disease is_a: MONDO:0020240 {source="Orphanet:140976"} ! syndromic retinitis pigmentosa @@ -220327,7 +220273,7 @@ xref: Orphanet:140 {source="MONDO:subClassOf", source="OMIM:602196"} xref: UMLS:C1865783 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602196"} is_a: MONDO:0002254 ! syndromic disease relationship: disease_has_feature HP:0000201 ! Pierre-Robin sequence -relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C535775", source="ORDO:140/btnt"} ! campomelic dysplasia +relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C535775", source="Orphanet:140/btnt"} ! campomelic dysplasia property_value: confidence "4.197500000000002" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies xsd:anyURI {source="GARD:0010090"} @@ -220374,7 +220320,7 @@ synonym: "xanthomatosis, susceptibility to" EXACT [OMIM:602247] xref: OMIM:602247 {source="MONDO:equivalentTo"} xref: Orphanet:391665 {source="MONDO:subClassOf", source="OMIM:602247"} xref: UMLS:C1865704 {source="NCBI:mim2gene_medline", source="OMIM:602247", source="MONDO:equivalentTo"} -is_a: MONDO:0018328 {source="ORDO:391665/btnt"} ! homozygous familial hypercholesterolemia +is_a: MONDO:0018328 {source="Orphanet:391665/btnt"} ! homozygous familial hypercholesterolemia property_value: confidence "1.0" xsd:double [Term] @@ -220394,15 +220340,15 @@ synonym: "malignant atrophic papulosis" EXACT [OMIM:602248] synonym: "papulosis atrophican maligna" EXACT [Orphanet:679] synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248] xref: GARD:0006249 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I77.8 {source="Orphanet:679", source="ORDO:679/ntbt", source="ORDO:679/index"} +xref: ICD10CM:I77.8 {source="Orphanet:679/ntbt", source="Orphanet:679", source="Orphanet:679/index"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10064281 {source="ORDO:679/e", source="Orphanet:679"} -xref: MESH:D054853 {source="ORDO:679/e", source="Orphanet:679", source="MONDO:equivalentTo"} +xref: MedDRA:10064281 {source="Orphanet:679", source="Orphanet:679/e"} +xref: MESH:D054853 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"} xref: NCIT:C84835 {source="MONDO:equivalentTo"} -xref: OMIM:602248 {source="ORDO:679/e", source="Orphanet:679", source="MONDO:equivalentTo"} +xref: OMIM:602248 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"} xref: Orphanet:679 {source="OMIM:602248", source="MONDO:equivalentTo"} xref: SCTID:400171002 {source="MONDO:equivalentTo"} -xref: UMLS:C0221011 {source="ORDO:679/e", source="OMIM:602248", source="NCBI:mim2gene_medline", source="NCIT:C84835", source="Orphanet:679", source="MONDO:equivalentTo"} +xref: UMLS:C0221011 {source="OMIM:602248", source="NCBI:mim2gene_medline", source="NCIT:C84835", source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"} is_a: MONDO:0005385 {source="Orphanet:679"} ! vascular disorder is_a: MONDO:0019293 {source="MESH:D054853", source="Orphanet:679"} ! skin vascular disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015948"} ! rare @@ -220438,11 +220384,11 @@ synonym: "SMDAX" RELATED ABBREVIATION [OMIM:602271] synonym: "spondylometaphyseal dysplasia axial type" RELATED [GARD:0008720] synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271] xref: GARD:0008720 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:168549/attributed", source="ORDO:168549/ntbt", source="Orphanet:168549"} -xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="ORDO:168549/e"} -xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="ORDO:168549/e"} +xref: ICD10CM:Q77.8 {source="Orphanet:168549", source="Orphanet:168549/attributed", source="Orphanet:168549/ntbt"} +xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} +xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: Orphanet:168549 {source="MONDO:equivalentTo", source="OMIM:602271"} -xref: UMLS:C1865695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168549", source="ORDO:168549/e", source="OMIM:602271"} +xref: UMLS:C1865695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168549", source="OMIM:602271", source="Orphanet:168549/e"} is_a: MONDO:0016763 {source="DC-OMIM:602271", source="Orphanet:168549"} ! spondylometaphyseal dysplasia intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1260 ! CFAP410 @@ -220498,12 +220444,12 @@ synonym: "progressive familial intrahepatic cholestasis caused by mutation in AB synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289] xref: DOID:0070223 {source="MONDO:equivalentTo"} xref: GARD:0001289 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="Orphanet:79305", source="ORDO:79305/attributed", source="ORDO:79305/ntbt"} -xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="ORDO:79305/e"} -xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="ORDO:79305/e"} +xref: ICD10CM:K76.8 {source="Orphanet:79305/attributed", source="Orphanet:79305/ntbt", source="Orphanet:79305"} +xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} +xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} xref: Orphanet:172 {source="MONDO:subClassOf", source="OMIM:602347"} xref: Orphanet:79305 {source="OMIM:602347", source="MONDO:equivalentTo"} -xref: UMLS:C1865643 {source="Orphanet:79305", source="OMIM:602347", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79305/e"} +xref: UMLS:C1865643 {source="Orphanet:79305", source="OMIM:602347", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79305/e"} is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:602347", source="Orphanet:79305"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/45 ! ABCB4 @@ -220525,12 +220471,12 @@ synonym: "osteocraniostenosis" EXACT [OMIM:602361] synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396] synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361] xref: GARD:0003396 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:relatedTo", source="Orphanet:2763", source="ORDO:2763/attributed", source="ORDO:2763/ntbt"} +xref: ICD10CM:Q78.0 {source="Orphanet:2763/attributed", source="Orphanet:2763/ntbt", source="MONDO:relatedTo", source="Orphanet:2763"} xref: MESH:C537291 {source="MONDO:equivalentTo"} -xref: OMIM:602361 {source="ORDO:2763/e", source="Orphanet:2763", source="MONDO:equivalentTo"} +xref: OMIM:602361 {source="Orphanet:2763", source="MONDO:equivalentTo", source="Orphanet:2763/e"} xref: Orphanet:2763 {source="MONDO:equivalentTo", source="OMIM:602361"} xref: SCTID:722109008 {source="MONDO:equivalentTo"} -xref: UMLS:C1865639 {source="ORDO:2763/e", source="NCBI:mim2gene_medline", source="Orphanet:2763", source="MONDO:equivalentTo", source="OMIM:602361"} +xref: UMLS:C1865639 {source="NCBI:mim2gene_medline", source="Orphanet:2763", source="MONDO:equivalentTo", source="Orphanet:2763/e", source="OMIM:602361"} is_a: MONDO:0019699 {source="Orphanet:2763"} ! slender bone dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24725 {source="mim2gene_medgen"} ! FAM111A property_value: confidence "7.125" xsd:double @@ -220566,10 +220512,10 @@ subset: gard_rare {source="GARD:0010283"} subset: ordo_disease {source="Orphanet:35107"} synonym: "desmosterolosis" EXACT [OMIM:602398] xref: GARD:0010283 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:35107", source="ORDO:35107/attributed", source="ORDO:35107/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:35107/attributed", source="Orphanet:35107/ntbt", source="Orphanet:35107"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566555 {source="MONDO:equivalentTo"} -xref: OMIM:602398 {source="Orphanet:35107", source="MONDO:equivalentTo", source="ORDO:35107/e"} +xref: OMIM:602398 {source="Orphanet:35107", source="MONDO:equivalentTo", source="Orphanet:35107/e"} xref: Orphanet:35107 {source="OMIM:602398", source="MONDO:equivalentTo"} xref: SCTID:709490002 {source="MONDO:equivalentTo"} xref: UMLS:C1865596 {source="OMIM:602398", source="Orphanet:35107", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -220601,9 +220547,9 @@ synonym: "IFAH syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "IHS" EXACT ABBREVIATION [DOID:0060720, Orphanet:91132] xref: DOID:0060720 {source="MONDO:equivalentTo"} xref: GARD:0010116 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q80.8 {source="Orphanet:91132", source="DOID:0060720", source="ORDO:91132/attributed", source="ORDO:91132/ntbt"} +xref: ICD10CM:Q80.8 {source="Orphanet:91132/attributed", source="Orphanet:91132/ntbt", source="Orphanet:91132", source="DOID:0060720"} xref: MESH:C536273 {source="MONDO:equivalentTo"} -xref: OMIM:602400 {source="ORDO:91132/e", source="Orphanet:91132", source="MONDO:equivalentTo", source="DOID:0060720"} +xref: OMIM:602400 {source="Orphanet:91132", source="MONDO:equivalentTo", source="DOID:0060720", source="Orphanet:91132/e"} xref: Orphanet:91132 {source="OMIM:602400", source="MONDO:equivalentTo"} xref: UMLS:C1835851 {source="OMIM:602400", source="Orphanet:91132", source="MONDO:equivalentTo"} xref: UMLS:C1865595 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -220621,10 +220567,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:99672"} synonym: "ECTD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602401] synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical, OMIM:602401] xref: DOID:0111661 {source="MONDO:equivalentTo"} -xref: OMIM:602401 {source="MONDO:equivalentTo", source="ORDO:99672/e", source="Orphanet:99672"} +xref: OMIM:602401 {source="Orphanet:99672/e", source="MONDO:equivalentTo", source="Orphanet:99672"} xref: Orphanet:99672 {source="OMIM:602401", source="MONDO:equivalentTo"} xref: SCTID:239020008 {source="MONDO:equivalentTo"} -xref: UMLS:C0406715 {source="MONDO:equivalentTo", source="ORDO:99672/e", source="Orphanet:99672"} +xref: UMLS:C0406715 {source="Orphanet:99672/e", source="MONDO:equivalentTo", source="Orphanet:99672"} xref: UMLS:C1865594 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3551424 {source="OMIM:602401", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019287 {source="OMIM:602401", source="Orphanet:99672", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome @@ -220646,7 +220592,7 @@ xref: OMIM:602404 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="MONDO:subClassOf", source="OMIM:602404"} xref: UMLS:C1865581 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602404"} is_a: MONDO:0005180 {source="MESH:C566552", source="MONDO:Redundant", source="OMIM:602404", source="indirect"} ! Parkinson disease -is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease +is_a: MONDO:0017279 {source="Orphanet:2828/btnt"} ! young-onset Parkinson disease relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.3096492687679333" xsd:double @@ -220689,16 +220635,16 @@ synonym: "ALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602433, Orphanet:357043] synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196, OMIM:602433] synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [DOID:0060196, MONDO:Lexical, OMIM:602433] synonym: "amyotrophic lateral sclerosis caused by mutation in SETX" EXACT [MONDO:design_pattern] -synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, ORDO:357043, Orphanet:357043] +synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043] synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196, OMIM:602433] -synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, ORDO:357043, Orphanet:357043] +synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043] synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433] synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060196 {source="MONDO:equivalentTo"} xref: GARD:0010502 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:357043/attributed", source="ORDO:357043/ntbt", source="Orphanet:357043", source="DOID:0060196"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:357043/attributed", source="Orphanet:357043/ntbt", source="Orphanet:357043", source="DOID:0060196"} xref: MESH:C566550 {source="MONDO:equivalentTo"} -xref: OMIM:602433 {source="MONDO:equivalentTo", source="ORDO:357043/e", source="Orphanet:357043", source="DOID:0060196"} +xref: OMIM:602433 {source="Orphanet:357043/e", source="MONDO:equivalentTo", source="Orphanet:357043", source="DOID:0060196"} xref: Orphanet:357043 {source="OMIM:602433", source="MONDO:equivalentTo", source="DOID:0060196"} xref: UMLS:C1865409 {source="OMIM:602433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:357043"} is_a: MONDO:0005144 {source="DC-OMIM:602433", source="DOID:0060196", source="MESH:C566550", source="MONDO:Redundant", source="OMIM:602433", source="Orphanet:357043"} ! familial amyotrophic lateral sclerosis @@ -220725,12 +220671,12 @@ synonym: "spinal muscular atrophy juvenile nonprogressive" RELATED [GARD:0009697 synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:602440] xref: EFO:1001989 {source="MONDO:equivalentTo"} xref: GARD:0009697 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.8 {source="ORDO:65684/ntbt", source="Orphanet:65684"} -xref: MedDRA:10069681 {source="ORDO:65684/e", source="Orphanet:65684"} -xref: MESH:C538253 {source="MONDO:equivalentTo", source="ORDO:65684/e", source="Orphanet:65684"} -xref: OMIM:602440 {source="MONDO:equivalentTo", source="ORDO:65684/e", source="Orphanet:65684"} +xref: ICD10CM:G12.8 {source="Orphanet:65684/ntbt", source="Orphanet:65684"} +xref: MedDRA:10069681 {source="Orphanet:65684/e", source="Orphanet:65684"} +xref: MESH:C538253 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"} +xref: OMIM:602440 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"} xref: Orphanet:65684 {source="MONDO:equivalentTo", source="OMIM:602440"} -xref: UMLS:C1865384 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:65684/e", source="OMIM:602440", source="Orphanet:65684"} +xref: UMLS:C1865384 {source="Orphanet:65684/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602440", source="Orphanet:65684"} is_a: MONDO:0020129 {source="Orphanet:65684"} ! acquired motor neuron disease property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy xsd:anyURI {source="GARD:0009697"} @@ -220763,8 +220709,8 @@ synonym: "severe combined immunodeficiency, partial" RELATED [OMIM:602450] xref: DOID:0060006 {source="MONDO:equivalentObsolete"} xref: DOID:0090012 {source="MONDO:equivalentTo"} xref: GARD:0009987 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.1 {source="ORDO:275/attributed", source="ORDO:275/ntbt", source="DOID:0090012", source="Orphanet:275"} -xref: OMIM:602450 {source="ORDO:275/ntbt", source="DOID:0090012", source="MONDO:equivalentTo", source="Orphanet:275", source="https://orcid.org/0000-0002-6601-2165"} +xref: ICD10CM:D81.1 {source="DOID:0090012", source="Orphanet:275/attributed", source="Orphanet:275/ntbt", source="Orphanet:275"} +xref: OMIM:602450 {source="DOID:0090012", source="MONDO:equivalentTo", source="Orphanet:275/ntbt", source="Orphanet:275", source="https://orcid.org/0000-0002-6601-2165"} xref: OMIM:603554 {source="MONDO:directSiblingOf", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:231053 {source="GARD:0009987"} xref: Orphanet:275 {source="DOID:0090012", source="MONDO:equivalentTo", source="OMIM:602450"} @@ -220789,8 +220735,7 @@ synonym: "autosomal dominant deafness 15" NARROW [DOID:0110546] synonym: "autosomal dominant nonsyndromic deafness 15" NARROW [OMIM:602459] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 15" NARROW [DOID:0110546, MONDORULE:2] -synonym: "deafness, autosomal dominant 15" NARROW [OMIM:602459, OMIM:genemap2] -synonym: "deafness, autosomal dominant 15" NARROW [MONDO:Lexical, OMIM:602459] +synonym: "deafness, autosomal dominant 15" NARROW [MONDO:Lexical, OMIM:602459, OMIM:genemap2] synonym: "deafness, autosomal dominant type 15" NARROW [MONDORULE:2, OMIM:602459] synonym: "DFNA15" NARROW ABBREVIATION [DOID:0110546, MONDO:Lexical, OMIM:602459] synonym: "POU4F3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -220814,9 +220759,9 @@ synonym: "SAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602471] synonym: "SAMS syndrome" EXACT [Orphanet:397623] synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical, OMIM:602471] synonym: "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" EXACT [OMIM:602471, OMIM:genemap2] -xref: ICD10CM:Q87.1 {source="ORDO:397623/attributed", source="ORDO:397623/ntbt", source="Orphanet:397623"} +xref: ICD10CM:Q87.1 {source="Orphanet:397623", source="Orphanet:397623/attributed", source="Orphanet:397623/ntbt"} xref: MESH:C566544 {source="MONDO:equivalentTo"} -xref: OMIM:602471 {source="MONDO:equivalentTo", source="ORDO:397623/e", source="Orphanet:397623"} +xref: OMIM:602471 {source="MONDO:equivalentTo", source="Orphanet:397623", source="Orphanet:397623/e"} xref: Orphanet:397623 {source="MONDO:equivalentTo", source="OMIM:602471"} xref: SCTID:417081007 {source="MONDO:equivalentTo"} xref: UMLS:C1865361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:397623", source="OMIM:602471"} @@ -220854,12 +220799,12 @@ synonym: "EPEMA syndrome" RELATED [GARD:0002198] synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198] xref: DOID:0060640 {source="MONDO:equivalentTo"} xref: GARD:0002198 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="Orphanet:51188", source="DOID:0060640", source="ORDO:51188/attributed", source="ORDO:51188/ntbt"} -xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="ORDO:51188/e"} -xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="ORDO:51188/e"} +xref: ICD10CM:G31.8 {source="Orphanet:51188", source="DOID:0060640", source="Orphanet:51188/attributed", source="Orphanet:51188/ntbt"} +xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} +xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} xref: Orphanet:51188 {source="DOID:0060640", source="MONDO:equivalentTo", source="OMIM:602473"} xref: SCTID:723307008 {source="MONDO:equivalentTo"} -xref: UMLS:C1865349 {source="Orphanet:51188", source="DOID:0060640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602473", source="ORDO:51188/e"} +xref: UMLS:C1865349 {source="Orphanet:51188", source="DOID:0060640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:51188/e", source="OMIM:602473"} is_a: MONDO:0016803 {source="Orphanet:51188"} ! unspecified inborn mitochondrial disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23287 {source="mim2gene_medgen"} ! ETHE1 property_value: confidence "28.513888888888893" xsd:double @@ -220919,7 +220864,7 @@ xref: OMIM:602481 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="MONDO:subClassOf", source="OMIM:602481"} xref: UMLS:C1865322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602481"} xref: UMLS:C1865323 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:602481"} -is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:602481", source="ORDO:569/btnt"} ! familial hemiplegic migraine +is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:602481", source="Orphanet:569/btnt"} ! familial hemiplegic migraine intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/800 ! ATP1A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/800 {source="mim2gene_medgen"} ! ATP1A2 @@ -220993,12 +220938,12 @@ synonym: "pelvic hypoplasia with lower limb arthrogryposis" RELATED [GARD:000426 synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [OMIM:602484] synonym: "Ray-Peterson-Scott syndrome" EXACT [Orphanet:2840] xref: GARD:0004269 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C535292 {source="ORDO:2840/e", source="Orphanet:2840"} -xref: MESH:C535548 {source="ORDO:2840/e", source="Orphanet:2840"} -xref: OMIM:602484 {source="ORDO:2840/e", source="Orphanet:2840", source="MONDO:equivalentTo"} +xref: MESH:C535292 {source="Orphanet:2840", source="Orphanet:2840/e"} +xref: MESH:C535548 {source="Orphanet:2840", source="Orphanet:2840/e"} +xref: OMIM:602484 {source="Orphanet:2840", source="MONDO:equivalentTo", source="Orphanet:2840/e"} xref: Orphanet:2840 {source="MONDO:equivalentTo", source="OMIM:602484"} -xref: UMLS:C1865294 {source="ORDO:2840/e", source="NCBI:mim2gene_medline", source="Orphanet:2840", source="MONDO:equivalentTo", source="OMIM:602484"} -xref: UMLS:C2930869 {source="ORDO:2840/e", source="Orphanet:2840", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1865294 {source="NCBI:mim2gene_medline", source="Orphanet:2840", source="MONDO:equivalentTo", source="Orphanet:2840/e", source="OMIM:602484"} +xref: UMLS:C2930869 {source="Orphanet:2840", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2840/e"} is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: confidence "8.6" xsd:double @@ -221016,9 +220961,9 @@ synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1, O xref: DOID:0070216 {source="MONDO:equivalentTo"} xref: GARD:0002818 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0009930 {source="MONDO:equivalentTo"} -xref: ICD10CM:E16.1 {source="ORDO:79299/attributed", source="ORDO:79299/ntbt", source="Orphanet:79299"} +xref: ICD10CM:E16.1 {source="Orphanet:79299/attributed", source="Orphanet:79299/ntbt", source="Orphanet:79299"} xref: MESH:C538374 {source="MONDO:equivalentTo"} -xref: OMIM:602485 {source="MONDO:equivalentTo", source="ORDO:79299/e", source="Orphanet:79299", source="GARD:0009930"} +xref: OMIM:602485 {source="Orphanet:79299/e", source="MONDO:equivalentTo", source="Orphanet:79299", source="GARD:0009930"} xref: Orphanet:79299 {source="OMIM:602485", source="MONDO:equivalentTo"} xref: SCTID:717182006 {source="MONDO:equivalentTo"} xref: UMLS:C1865290 {source="OMIM:602485", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0009930"} @@ -221097,10 +221042,10 @@ synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [OMI synonym: "megalencephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040] synonym: "megalocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] xref: GARD:0006950 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.3 {source="ORDO:60040/attributed", source="ORDO:60040/ntbt", source="Orphanet:60040"} +xref: ICD10CM:Q87.3 {source="Orphanet:60040/attributed", source="Orphanet:60040/ntbt", source="Orphanet:60040"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536142 {source="MONDO:equivalentTo"} -xref: OMIM:602501 {source="MONDO:equivalentTo", source="ORDO:60040/e", source="Orphanet:60040"} +xref: OMIM:602501 {source="Orphanet:60040/e", source="MONDO:equivalentTo", source="Orphanet:60040"} xref: Orphanet:60040 {source="OMIM:602501", source="MONDO:equivalentTo"} xref: SCTID:703370002 {source="MONDO:equivalentTo"} xref: UMLS:C1865285 {source="OMIM:602501", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:60040"} @@ -221164,9 +221109,9 @@ synonym: "grange occlusive arterial syndrome" EXACT [OMIM:602531, Orphanet:79094 synonym: "grange syndrome" EXACT [OMIM:602531] synonym: "GRNG" RELATED ABBREVIATION [OMIM:602531] synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094] -xref: ICD10CM:Q87.8 {source="Orphanet:79094", source="ORDO:79094/attributed", source="ORDO:79094/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:79094/attributed", source="Orphanet:79094/ntbt", source="Orphanet:79094"} xref: MESH:C566529 {source="MONDO:equivalentTo"} -xref: OMIM:602531 {source="ORDO:79094/e", source="Orphanet:79094", source="MONDO:equivalentTo"} +xref: OMIM:602531 {source="Orphanet:79094", source="MONDO:equivalentTo", source="Orphanet:79094/e"} xref: Orphanet:79094 {source="OMIM:602531", source="MONDO:equivalentTo"} xref: SCTID:717824007 {source="MONDO:equivalentTo"} xref: UMLS:C1865267 {source="OMIM:602531", source="Orphanet:79094", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -221188,13 +221133,13 @@ synonym: "Marshall-Smith syndrome" EXACT [MONDO:Lexical, OMIM:602535] synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602535] xref: DOID:0050858 {source="MONDO:equivalentTo"} xref: GARD:0006985 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.3 {source="ORDO:561/attributed", source="ORDO:561/ntbt", source="Orphanet:561"} +xref: ICD10CM:Q87.3 {source="Orphanet:561/attributed", source="Orphanet:561/ntbt", source="Orphanet:561"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536026 {source="MONDO:equivalentTo", source="ORDO:561/e", source="Orphanet:561"} -xref: OMIM:602535 {source="MONDO:equivalentTo", source="ORDO:561/e", source="DOID:0050858", source="Orphanet:561"} +xref: MESH:C536026 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="Orphanet:561"} +xref: OMIM:602535 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="DOID:0050858", source="Orphanet:561"} xref: Orphanet:561 {source="MONDO:equivalentTo", source="OMIM:602535", source="DOID:0050858"} xref: SCTID:73284007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265211 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602535", source="ORDO:561/e", source="Orphanet:561"} +xref: UMLS:C0265211 {source="Orphanet:561/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602535", source="Orphanet:561"} is_a: MONDO:0002254 {source="DOID:0050858", source="indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:561", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019716 {source="Orphanet:561"} ! overgrowth syndrome @@ -221213,7 +221158,7 @@ xref: MESH:C566528 {source="MONDO:equivalentTo"} xref: OMIM:602540 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="MONDO:subClassOf", source="OMIM:602540"} xref: UMLS:C1865234 {source="OMIM:602540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018781 {source="ORDO:477/btnt"} ! KID syndrome +is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4284 {source="mim2gene_medgen"} ! GJB2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.5132275132275135" xsd:double @@ -221235,9 +221180,9 @@ synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexica synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [OMIM:602541] xref: DOID:0110632 {source="MONDO:equivalentTo"} xref: GARD:0010317 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="DOID:0110632", source="ORDO:280671/attributed", source="ORDO:280671/ntbt", source="Orphanet:280671"} +xref: ICD10CM:G71.2 {source="DOID:0110632", source="Orphanet:280671", source="Orphanet:280671/attributed", source="Orphanet:280671/ntbt"} xref: MESH:C566527 {source="MONDO:equivalentTo"} -xref: OMIM:602541 {source="DOID:0110632", source="MONDO:equivalentTo", source="ORDO:280671/e", source="Orphanet:280671"} +xref: OMIM:602541 {source="DOID:0110632", source="MONDO:equivalentTo", source="Orphanet:280671", source="Orphanet:280671/e"} xref: Orphanet:280671 {source="OMIM:602541", source="DOID:0110632", source="MONDO:equivalentTo"} xref: UMLS:C1865233 {source="OMIM:602541", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280671"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -221272,13 +221217,13 @@ synonym: "distal 13q deletion" EXACT [Orphanet:1590] synonym: "distal monosomy type 13q" EXACT [MONDORULE:4, Orphanet:1590] synonym: "monosomy 13q32" EXACT [Orphanet:1590] synonym: "telomeric deletion13q" EXACT [Orphanet:1590] -xref: ICD10CM:Q93.5 {source="Orphanet:1590", source="ORDO:1590/attributed", source="ORDO:1590/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:1590/attributed", source="Orphanet:1590/ntbt", source="Orphanet:1590"} xref: MESH:C566526 {source="MONDO:equivalentTo"} -xref: OMIM:602553 {source="MONDO:equivalentTo", source="Orphanet:1590", source="ORDO:1590/e"} +xref: OMIM:602553 {source="Orphanet:1590/e", source="MONDO:equivalentTo", source="Orphanet:1590"} xref: Orphanet:1590 {source="OMIM:602553", source="MONDO:equivalentTo"} xref: SCTID:763527007 {source="MONDO:equivalentTo"} xref: UMLS:C1865208 {source="OMIM:602553", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1590"} -xref: UMLS:C2930913 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1590", source="ORDO:1590/e"} +xref: UMLS:C2930913 {source="Orphanet:1590/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1590"} is_a: MONDO:0015246 {source="Orphanet:1590"} ! syndromic anorectal malformation is_a: MONDO:0016911 {source="Orphanet:1590"} ! partial deletion of the long arm of chromosome 13 relationship: disease_arises_from_structure CHR:9606-chr13q {source="https://orcid.org/0000-0002-4142-7153"} ! 13q (Human) @@ -221298,7 +221243,7 @@ xref: MESH:C536969 {source="MONDO:equivalentTo"} xref: OMIM:602554 {source="DOID:0090058", source="MONDO:equivalentTo"} xref: Orphanet:256 {source="MONDO:subClassOf", source="OMIM:602554", source="DOID:0090058"} xref: UMLS:C1865205 {source="OMIM:602554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007492 {source="ORDO:256/btnt"} ! early-onset generalized limb-onset dystonia +is_a: MONDO:0007492 {source="Orphanet:256/btnt"} ! early-onset generalized limb-onset dystonia property_value: confidence "0.02193548387096822" xsd:double [Term] @@ -221332,9 +221277,9 @@ synonym: "SEMDSH" RELATED ABBREVIATION [OMIM:602557] synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980] synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557] xref: GARD:0004980 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:93352", source="ORDO:93352/attributed", source="ORDO:93352/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:93352/attributed", source="Orphanet:93352/ntbt", source="Orphanet:93352"} xref: MESH:C566523 {source="MONDO:equivalentTo"} -xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="ORDO:93352/e"} +xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="Orphanet:93352/e"} xref: Orphanet:93352 {source="MONDO:equivalentTo", source="OMIM:602557"} xref: SCTID:719201004 {source="MONDO:equivalentTo"} xref: UMLS:C1865185 {source="Orphanet:93352", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602557"} @@ -221350,9 +221295,9 @@ subset: gard_rare {source="GARD:0001583"} subset: ordo_malformation_syndrome {source="Orphanet:1524"} synonym: "craniomicromelic syndrome" EXACT [OMIM:602558] xref: GARD:0001583 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1524/attributed", source="ORDO:1524/ntbt", source="Orphanet:1524"} +xref: ICD10CM:Q87.0 {source="Orphanet:1524", source="Orphanet:1524/attributed", source="Orphanet:1524/ntbt"} xref: MESH:C566522 {source="MONDO:equivalentTo"} -xref: OMIM:602558 {source="MONDO:equivalentTo", source="ORDO:1524/e", source="Orphanet:1524"} +xref: OMIM:602558 {source="MONDO:equivalentTo", source="Orphanet:1524", source="Orphanet:1524/e"} xref: Orphanet:1524 {source="MONDO:equivalentTo", source="OMIM:602558"} xref: SCTID:725098001 {source="MONDO:equivalentTo"} xref: UMLS:C1865184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602558", source="Orphanet:1524"} @@ -221377,9 +221322,9 @@ synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [OM synonym: "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" EXACT [Orphanet:357158] synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [OMIM:602562] synonym: "Verloes-Lesenfants syndrome" RELATED [OMIM:602562] -xref: ICD10CM:Q87.0 {source="Orphanet:357158", source="ORDO:357158/attributed", source="ORDO:357158/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:357158", source="Orphanet:357158/attributed", source="Orphanet:357158/ntbt"} xref: MESH:C566520 {source="MONDO:equivalentTo"} -xref: OMIM:602562 {source="Orphanet:357158", source="ORDO:357158/e", source="MONDO:equivalentTo"} +xref: OMIM:602562 {source="Orphanet:357158", source="MONDO:equivalentTo", source="Orphanet:357158/e"} xref: Orphanet:357158 {source="OMIM:602562", source="MONDO:equivalentTo"} xref: UMLS:C1865181 {source="Orphanet:357158", source="OMIM:602562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015334 {source="Orphanet:357158"} ! branchial arch or oral-acral syndrome @@ -221425,10 +221370,10 @@ synonym: "SLSJ syndrome" RELATED [GARD:0009830] synonym: "Slsj syndrome" RELATED [OMIM:602579] xref: DOID:0080554 {source="MONDO:equivalentTo"} xref: GARD:0009830 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79319", source="ORDO:79319/attributed", source="ORDO:79319/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:79319/attributed", source="Orphanet:79319/ntbt", source="Orphanet:79319"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535740 {source="MONDO:equivalentTo"} -xref: OMIM:602579 {source="ORDO:79319/e", source="Orphanet:79319", source="MONDO:equivalentTo"} +xref: OMIM:602579 {source="Orphanet:79319", source="MONDO:equivalentTo", source="Orphanet:79319/e"} xref: Orphanet:79319 {source="MONDO:equivalentTo", source="OMIM:602579"} xref: SCTID:124668009 {source="MONDO:equivalentTo"} xref: UMLS:C1865145 {source="Orphanet:79319", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:602579"} @@ -221508,9 +221453,9 @@ subset: ordo_disease {source="Orphanet:163649"} synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [OMIM:602611] synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT DEPRECATED [OMIM:602611] synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [Orphanet:163649] -xref: ICD10CM:Q77.7 {source="ORDO:163649/attributed", source="ORDO:163649/ntbt", source="Orphanet:163649"} +xref: ICD10CM:Q77.7 {source="Orphanet:163649/attributed", source="Orphanet:163649/ntbt", source="Orphanet:163649"} xref: MESH:C566515 {source="MONDO:equivalentTo"} -xref: OMIM:602611 {source="MONDO:equivalentTo", source="Orphanet:163649", source="ORDO:163649/e"} +xref: OMIM:602611 {source="Orphanet:163649/e", source="MONDO:equivalentTo", source="Orphanet:163649"} xref: Orphanet:163649 {source="OMIM:602611", source="MONDO:equivalentTo"} xref: SCTID:718766002 {source="MONDO:equivalentTo"} xref: UMLS:C1865134 {source="OMIM:602611", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:163649"} @@ -221573,9 +221518,9 @@ synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1] synonym: "torsion dystonia, adult-onset, mixed type" RELATED [OMIM:602629] xref: DOID:0090039 {source="MONDO:equivalentTo"} xref: GARD:0009630 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="ORDO:98806/attributed", source="ORDO:98806/ntbt", source="Orphanet:98806", source="DOID:0090039"} +xref: ICD10CM:G24.1 {source="Orphanet:98806", source="DOID:0090039", source="Orphanet:98806/attributed", source="Orphanet:98806/ntbt"} xref: MESH:C538003 {source="MONDO:equivalentTo"} -xref: OMIM:602629 {source="MONDO:equivalentTo", source="ORDO:98806/e", source="Orphanet:98806", source="DOID:0090039"} +xref: OMIM:602629 {source="Orphanet:98806/e", source="MONDO:equivalentTo", source="Orphanet:98806", source="DOID:0090039"} xref: Orphanet:98806 {source="MONDO:equivalentTo", source="DOID:0090039", source="OMIM:602629"} xref: SCTID:702448007 {source="MONDO:equivalentTo"} xref: UMLS:C1414216 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98806", source="OMIM:602629"} @@ -221620,15 +221565,15 @@ synonym: "ricker disease" EXACT [Orphanet:606] synonym: "ricker syndrome" EXACT [OMIM:602668, Orphanet:606] xref: DOID:0050759 {source="MONDO:equivalentTo"} xref: GARD:0009728 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.1 {source="ORDO:606/attributed", source="ORDO:606/ntbt", source="Orphanet:606", source="DOID:0050759"} +xref: ICD10CM:G71.1 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/attributed", source="Orphanet:606/ntbt"} xref: ICD10CM:G71.19 {source="DOID:0050759"} xref: ICD9:359.2 {source="DOID:0050759"} -xref: MESH:D020967 {source="ORDO:606/e", source="Orphanet:606", source="DOID:0050759"} +xref: MESH:D020967 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/e"} xref: NCIT:C122789 {source="MONDO:relatedTo", source="DOID:0050759"} xref: NCIT:C122790 {source="MONDO:relatedTo", source="DOID:0050759"} xref: NCIT:C84680 {source="MONDO:equivalentTo"} xref: NCIT:C84913 {source="DOID:0050759"} -xref: OMIM:602668 {source="ORDO:606/e", source="MONDO:equivalentTo", source="Orphanet:606", source="DOID:0050759"} +xref: OMIM:602668 {source="MONDO:equivalentTo", source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/e"} xref: Orphanet:606 {source="MONDO:equivalentTo", source="OMIM:602668"} xref: SCTID:155096007 {source="DOID:0050759"} xref: SCTID:193237003 {source="DOID:0050759"} @@ -221637,7 +221582,7 @@ xref: SCTID:267713009 {source="DOID:0050759"} xref: SCTID:41574007 {source="MONDO:relatedTo", source="DOID:0050759"} xref: UMLS:C0221055 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050759"} xref: UMLS:C0553604 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050759"} -xref: UMLS:C0752354 {source="ORDO:606/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:606"} +xref: UMLS:C0752354 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:606", source="Orphanet:606/e"} xref: UMLS:C0752355 {source="MONDO:relatedTo", source="DOID:0050759"} xref: UMLS:C2931689 {source="OMIM:602668", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C84680", source="Orphanet:606"} is_a: MONDO:0016107 {source="DC-OMIM:602668", source="DOID:0050759", source="MONDO:Redundant", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy @@ -221685,7 +221630,7 @@ xref: Orphanet:402041 {source="MONDO:subClassOf", source="OMIM:602722"} xref: UMLS:C1864498 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:602722"} xref: UMLS:C1864499 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:602722"} is_a: MONDO:0001909 {source="DC-OMIM:602722"} ! renal tubular acidosis -is_a: MONDO:0018440 {source="ORDO:402041/btnt"} ! autosomal recessive distal renal tubular acidosis +is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/866 {source="mim2gene_medgen"} ! ATP6V0A4 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.2222222222222223" xsd:double @@ -221768,7 +221713,7 @@ xref: Orphanet:84132 {source="DOID:0110633", source="OMIM:602771", source="MONDO xref: Orphanet:97244 {source="DOID:0110633", source="MONDO:subClassOf", source="OMIM:602771", source="MONDO:superClassOf"} xref: SCTID:240063002 {source="MONDO:equivalentTo"} xref: UMLS:C0410180 {source="NCIT:C126691", source="OMIM:602771", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018948 {source="ORDO:598/btnt"} ! multiminicore myopathy +is_a: MONDO:0018948 {source="Orphanet:598/btnt"} ! multiminicore myopathy is_a: MONDO:0019950 {source="DOID:0110633", source="MONDO:0011271/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! congenital muscular dystrophy is_a: MONDO:0019951 {source="MONDO:Redundant"} ! rigid spine syndrome is_a: MONDO:0020121 {source="DOID:0110633/inferred", source="MONDO:Redundant", source="NCIT:C126691", source="indirect", source="linkedlifedata/inferred"} ! muscular dystrophy @@ -221821,10 +221766,10 @@ synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [OMIM:602782] synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239] xref: GARD:0000581 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0010239 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D76.3 {source="ORDO:168569/attributed", source="ORDO:168569/ntbt", source="Orphanet:168569"} +xref: ICD10CM:D76.3 {source="Orphanet:168569", source="Orphanet:168569/attributed", source="Orphanet:168569/ntbt"} xref: MESH:C535391 {source="MONDO:equivalentTo"} xref: MESH:C538322 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:602782 {source="MONDO:equivalentTo", source="Orphanet:168569", source="ORDO:168569/e"} +xref: OMIM:602782 {source="MONDO:equivalentTo", source="Orphanet:168569", source="Orphanet:168569/e"} xref: Orphanet:158014 {source="OMIM:602782", source="MONDO:relatedTo"} xref: Orphanet:168569 {source="OMIM:602782", source="MONDO:equivalentTo"} xref: SCTID:711159002 {source="MONDO:equivalentTo"} @@ -221854,13 +221799,13 @@ synonym: "Muenke syndrome" EXACT [MONDO:Lexical, OMIM:602849] synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097] xref: DOID:0060703 {source="MONDO:equivalentTo"} xref: GARD:0007097 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:53271/attributed", source="ORDO:53271/ntbt", source="DOID:0060703", source="Orphanet:53271"} -xref: MESH:C537369 {source="MONDO:equivalentTo", source="ORDO:53271/e", source="DOID:0060703", source="Orphanet:53271"} +xref: ICD10CM:Q87.0 {source="DOID:0060703", source="Orphanet:53271/attributed", source="Orphanet:53271/ntbt", source="Orphanet:53271"} +xref: MESH:C537369 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} xref: NCIT:C84904 {source="MONDO:equivalentTo"} -xref: OMIM:602849 {source="MONDO:equivalentTo", source="ORDO:53271/e", source="DOID:0060703", source="Orphanet:53271"} +xref: OMIM:602849 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} xref: Orphanet:53271 {source="MONDO:equivalentTo", source="DOID:0060703", source="OMIM:602849"} xref: SCTID:440350001 {source="MONDO:equivalentTo"} -xref: UMLS:C1864436 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84904", source="ORDO:53271/e", source="DOID:0060703", source="Orphanet:53271", source="OMIM:602849"} +xref: UMLS:C1864436 {source="Orphanet:53271/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84904", source="DOID:0060703", source="Orphanet:53271", source="OMIM:602849"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84904", source="indirect"} ! syndromic disease is_a: MONDO:0015338 {source="Orphanet:53271"} ! syndromic craniosynostosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 @@ -221881,12 +221826,12 @@ synonym: "AMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602875] synonym: "St. Helena dysplasia" RELATED [OMIM:602875] xref: DOID:0080050 {source="MONDO:equivalentTo"} xref: GARD:0000507 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:40/attributed", source="ORDO:40/ntbt", source="Orphanet:40"} -xref: MESH:C535661 {source="MONDO:equivalentTo", source="ORDO:40/e", source="Orphanet:40"} -xref: OMIM:602875 {source="MONDO:equivalentTo", source="ORDO:40/e", source="DOID:0080050", source="Orphanet:40"} +xref: ICD10CM:Q77.8 {source="Orphanet:40/attributed", source="Orphanet:40/ntbt", source="Orphanet:40"} +xref: MESH:C535661 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="Orphanet:40"} +xref: OMIM:602875 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="DOID:0080050", source="Orphanet:40"} xref: Orphanet:40 {source="OMIM:602875", source="MONDO:equivalentTo"} xref: SCTID:718559000 {source="MONDO:equivalentTo"} -xref: UMLS:C1864356 {source="OMIM:602875", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:40/e", source="Orphanet:40"} +xref: UMLS:C1864356 {source="OMIM:602875", source="NCBI:mim2gene_medline", source="Orphanet:40/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:40"} xref: UMLS:C2930970 {source="OMIM:602875", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019696 {source="OMIM:602875"} ! acromesomelic dysplasia intersection_of: MONDO:0019696 ! acromesomelic dysplasia @@ -221934,8 +221879,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 17" NARROW [DOID:0110472] synonym: "autosomal recessive nonsyndromic deafness 17" NARROW [OMIM:603010] synonym: "autosomal recessive nonsyndromic deafness type 17" NARROW [DOID:0110472, MONDORULE:2] -synonym: "deafness, autosomal recessive 17" NARROW [OMIM:603010, OMIM:genemap2] -synonym: "deafness, autosomal recessive 17" NARROW [MONDO:Lexical, OMIM:603010] +synonym: "deafness, autosomal recessive 17" NARROW [MONDO:Lexical, OMIM:603010, OMIM:genemap2] synonym: "DFNB17" NARROW ABBREVIATION [DOID:0110472, MONDO:Lexical, OMIM:603010] xref: DOID:0110472 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110472"} @@ -221991,7 +221935,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:603034"} xref: Orphanet:98915 {source="MONDO:subClassOf", source="OMIM:603034"} xref: UMLS:C1864233 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129304", source="OMIM:603034"} is_a: MONDO:0018940 {source="DOID:0110667", source="MESH:C566415", source="MONDO:Redundant", source="NCIT:C129304", source="OMIM:603034", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020346 {source="ORDO:98915/btnt"} ! synaptic congenital myasthenic syndrome +is_a: MONDO:0020346 {source="Orphanet:98915/btnt"} ! synaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2226 ! COLQ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2226 {source="mim2gene_medgen"} ! COLQ @@ -222080,8 +222024,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 13" NARROW [DOID:0110468] synonym: "autosomal recessive nonsyndromic deafness 13" NARROW [OMIM:603098] synonym: "autosomal recessive nonsyndromic deafness type 13" NARROW [DOID:0110468, MONDORULE:2] -synonym: "deafness, autosomal recessive 13" NARROW [OMIM:603098, OMIM:genemap2] -synonym: "deafness, autosomal recessive 13" NARROW [MONDO:Lexical, OMIM:603098] +synonym: "deafness, autosomal recessive 13" NARROW [MONDO:Lexical, OMIM:603098, OMIM:genemap2] synonym: "DFNB13" NARROW ABBREVIATION [DOID:0110468, MONDO:Lexical, OMIM:603098] xref: DOID:0110468 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110468"} @@ -222103,9 +222046,9 @@ synonym: "CDAGS syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations" RELATED [GARD:0009506] synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [OMIM:603116] xref: GARD:0009506 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:85199", source="ORDO:85199/attributed", source="ORDO:85199/ntbt"} -xref: MESH:C536789 {source="Orphanet:85199", source="MONDO:equivalentTo", source="ORDO:85199/e"} -xref: OMIM:603116 {source="Orphanet:85199", source="MONDO:equivalentTo", source="ORDO:85199/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:85199", source="Orphanet:85199/attributed", source="Orphanet:85199/ntbt"} +xref: MESH:C536789 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"} +xref: OMIM:603116 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"} xref: Orphanet:85199 {source="OMIM:603116", source="MONDO:equivalentTo"} xref: SCTID:720812002 {source="MONDO:equivalentTo"} xref: UMLS:C1864186 {source="Orphanet:85199", source="NCBI:mim2gene_medline", source="OMIM:603116", source="MONDO:notFoundInDiseaseSubset"} @@ -222171,10 +222114,10 @@ synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, synonym: "glucosyltransferase 1 deficiency" EXACT [Orphanet:79320] xref: DOID:0080555 {source="MONDO:equivalentTo"} xref: GARD:0009829 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79320/attributed", source="ORDO:79320/ntbt", source="Orphanet:79320"} +xref: ICD10CM:E77.8 {source="Orphanet:79320", source="Orphanet:79320/attributed", source="Orphanet:79320/ntbt"} xref: MESH:C535741 {source="MONDO:equivalentTo"} xref: NCIT:C126869 {source="MONDO:equivalentTo"} -xref: OMIM:603147 {source="MONDO:equivalentTo", source="ORDO:79320/e", source="Orphanet:79320"} +xref: OMIM:603147 {source="Orphanet:79320/e", source="MONDO:equivalentTo", source="Orphanet:79320"} xref: Orphanet:79320 {source="OMIM:603147", source="MONDO:equivalentTo"} xref: SCTID:709412006 {source="MONDO:equivalentTo"} xref: UMLS:C1864178 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -222316,9 +222259,9 @@ synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXAC synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [OMIM:603218] synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090103 {source="MONDO:equivalentTo"} -xref: ICD10CM:G10 {source="Orphanet:157941", source="ORDO:157941/attributed", source="ORDO:157941/ntbt", source="DOID:0090103"} +xref: ICD10CM:G10 {source="Orphanet:157941/attributed", source="Orphanet:157941/ntbt", source="Orphanet:157941", source="DOID:0090103"} xref: MESH:C566398 {source="MONDO:equivalentTo"} -xref: OMIM:603218 {source="Orphanet:157941", source="ORDO:157941/e", source="MONDO:equivalentTo", source="DOID:0090103"} +xref: OMIM:603218 {source="Orphanet:157941", source="MONDO:equivalentTo", source="DOID:0090103", source="Orphanet:157941/e"} xref: Orphanet:157941 {source="MONDO:equivalentTo", source="OMIM:603218", source="DOID:0090103"} xref: UMLS:C1864112 {source="Orphanet:157941", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603218"} is_a: MONDO:0000167 {source="DC-OMIM:603218"} ! Huntington disease and related disorders @@ -222356,12 +222299,12 @@ synonym: "pseudohypoparathyroidism, type 1B" RELATED [OMIM:603233] synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233] xref: DOID:0080222 {source="MONDO:equivalentTo"} xref: GARD:0010680 {source="MONDO:equivalentTo"} -xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="Orphanet:94089", source="ORDO:94089/attributed", source="ORDO:94089/ntbt"} -xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="ORDO:94089/e"} -xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="ORDO:94089/e"} +xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="Orphanet:94089/attributed", source="Orphanet:94089/ntbt", source="Orphanet:94089"} +xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"} +xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="Orphanet:94089/e"} xref: Orphanet:94089 {source="OMIM:603233", source="MONDO:equivalentTo"} xref: UMLS:C1864100 {source="OMIM:603233", source="Orphanet:94089", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2932715 {source="Orphanet:94089", source="MONDO:equivalentTo", source="ORDO:94089/e"} +xref: UMLS:C2932715 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"} is_a: MONDO:0019992 {source="DOID:0080222", source="MESH:C548075", source="MONDO:0018700-obsoleted", source="Orphanet:94089", source="Orphanet:94089/inferred"} ! pseudohypoparathyroidism relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "14.833333333333334" xsd:double @@ -222395,7 +222338,7 @@ synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDOR synonym: "FSGS1" EXACT ABBREVIATION [DOID:0111128, MONDO:Lexical, OMIM:603278] synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278] xref: DOID:0111128 {source="MONDO:equivalentTo"} -xref: ICD10CM:N04.1 {source="DOID:0111128", source="Orphanet:93213", source="ORDO:93213/attributed", source="ORDO:93213/ntbt"} +xref: ICD10CM:N04.1 {source="DOID:0111128", source="Orphanet:93213", source="Orphanet:93213/attributed", source="Orphanet:93213/ntbt"} xref: MESH:C538457 {source="MONDO:equivalentTo"} xref: OMIM:603278 {source="DOID:0111128", source="MONDO:equivalentTo", source="Orphanet:93213"} xref: Orphanet:93213 {source="MONDO:equivalentTo"} @@ -222426,7 +222369,7 @@ xref: MESH:C566394 {source="MONDO:equivalentTo"} xref: OMIM:603284 {source="DOID:0060670", source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="MONDO:subClassOf", source="DOID:0060670", source="OMIM:603284"} xref: UMLS:C1864041 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603284"} -is_a: MONDO:0031037 {source="MONDO:Redundant", source="ORDO:221061/btnt"} ! famililal cerebral cavernous malformations +is_a: MONDO:0031037 {source="MONDO:Redundant", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21708 ! CCM2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21708 {source="mim2gene_medgen"} ! CCM2 @@ -222451,7 +222394,7 @@ xref: MESH:C566393 {source="MONDO:equivalentTo"} xref: OMIM:603285 {source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="DOID:0060671", source="MONDO:subClassOf", source="OMIM:603285"} xref: UMLS:C1864040 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603285"} -is_a: MONDO:0031037 {source="MONDO:Redundant", source="ORDO:221061/btnt"} ! famililal cerebral cavernous malformations +is_a: MONDO:0031037 {source="MONDO:Redundant", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8761 ! PDCD10 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8761 {source="mim2gene_medgen"} ! PDCD10 @@ -222499,13 +222442,13 @@ synonym: "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [OMIM:603358] xref: DOID:0111455 {source="MONDO:equivalentTo"} xref: GARD:0000001 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:53693/attributed", source="ORDO:53693/ntbt", source="Orphanet:53693"} +xref: ICD10CM:E88.8 {source="Orphanet:53693/attributed", source="Orphanet:53693/ntbt", source="Orphanet:53693"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537934 {source="MONDO:equivalentTo", source="ORDO:53693/e", source="Orphanet:53693"} -xref: OMIM:603358 {source="GARD:0000001", source="MONDO:equivalentTo", source="ORDO:53693/e", source="Orphanet:53693"} +xref: MESH:C537934 {source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"} +xref: OMIM:603358 {source="GARD:0000001", source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"} xref: Orphanet:53693 {source="GARD:0000001", source="OMIM:603358", source="MONDO:equivalentTo"} xref: SCTID:703388005 {source="MONDO:equivalentTo"} -xref: UMLS:C1864002 {source="GARD:0000001", source="NCBI:mim2gene_medline", source="OMIM:603358", source="MONDO:equivalentTo", source="ORDO:53693/e", source="Orphanet:53693"} +xref: UMLS:C1864002 {source="GARD:0000001", source="NCBI:mim2gene_medline", source="OMIM:603358", source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"} is_a: MONDO:0044970 {source="Orphanet:53693"} ! mitochondrial disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1020 {source="mim2gene_medgen"} ! BCS1L property_value: confidence "4.277777777777778" xsd:double @@ -222515,14 +222458,14 @@ id: MONDO:0011309 name: familial gestational hyperthyroidism subset: ordo_disease {source="Orphanet:99819"} synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373] -xref: ICD10CM:E05.8 {source="ORDO:99819/attributed", source="ORDO:99819/ntbt", source="Orphanet:99819"} +xref: ICD10CM:E05.8 {source="Orphanet:99819/attributed", source="Orphanet:99819/ntbt", source="Orphanet:99819"} xref: ICD9:242.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:648.10 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C566384 {source="MONDO:equivalentTo", source="ORDO:99819/e", source="Orphanet:99819"} -xref: OMIM:603373 {source="MONDO:equivalentTo", source="ORDO:99819/e", source="Orphanet:99819"} +xref: MESH:C566384 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"} +xref: OMIM:603373 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"} xref: Orphanet:99819 {source="MONDO:equivalentTo", source="OMIM:603373"} xref: SCTID:703309000 {source="MONDO:equivalentTo"} -xref: UMLS:C1863959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:99819/e", source="OMIM:603373", source="Orphanet:99819"} +xref: UMLS:C1863959 {source="Orphanet:99819/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603373", source="Orphanet:99819"} is_a: MONDO:0004425 {source="Orphanet:99819"} ! hyperthyroidism is_a: MONDO:0015512 {source="Orphanet:99819"} ! genetic hypertension is_a: MONDO:0024575 {source="Orphanet:99819"} ! pregnancy disorder @@ -222569,7 +222512,7 @@ xref: MESH:C537842 {source="MONDO:equivalentTo"} xref: OMIM:603386 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:603386"} xref: UMLS:C1863925 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603386"} -is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma +is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.198067632850242" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia xsd:anyURI {source="GARD:0008488"} @@ -222679,7 +222622,7 @@ synonym: "Tsukahara syndrome" EXACT [Orphanet:3268] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability" RELATED [GARD:0000394] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation" RELATED DEPRECATED [GARD:0000394] xref: GARD:0000394 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:603438 {source="Orphanet:3268", source="ORDO:3268/e", source="MONDO:equivalentTo"} +xref: OMIM:603438 {source="Orphanet:3268", source="MONDO:equivalentTo", source="Orphanet:3268/e"} xref: Orphanet:3268 {source="MONDO:equivalentTo", source="OMIM:603438"} xref: UMLS:C1863881 {source="Orphanet:3268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603438"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -222783,13 +222726,13 @@ synonym: "neuronal intranuclear hyaline inclusion disease" RELATED [GARD:0003971 synonym: "neuronal intranuclear inclusion disease" EXACT [OMIM:603472] synonym: "Niid" RELATED [OMIM:603472] xref: GARD:0003971 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.0 {source="Orphanet:2289", source="ORDO:2289/attributed", source="ORDO:2289/ntbt"} -xref: MESH:C537395 {source="Orphanet:2289", source="ORDO:2289/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G31.0 {source="Orphanet:2289", source="Orphanet:2289/attributed", source="Orphanet:2289/ntbt"} +xref: MESH:C537395 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} xref: NCIT:C122655 {source="MONDO:equivalentTo"} -xref: OMIM:603472 {source="Orphanet:2289", source="ORDO:2289/e", source="MONDO:equivalentTo"} +xref: OMIM:603472 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} xref: Orphanet:2289 {source="MONDO:equivalentTo", source="OMIM:603472"} xref: SCTID:715437003 {source="MONDO:equivalentTo"} -xref: UMLS:C1863843 {source="Orphanet:2289", source="ORDO:2289/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122655", source="OMIM:603472"} +xref: UMLS:C1863843 {source="Orphanet:2289", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2289/e", source="NCIT:C122655", source="OMIM:603472"} is_a: MONDO:0005395 ! movement disorder is_a: MONDO:0015547 ! genetic dementia is_a: MONDO:0024237 {source="Orphanet:2289"} ! inherited neurodegenerative disorder @@ -222822,9 +222765,9 @@ synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical, OMIM:603516] synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516] xref: DOID:0050960 {source="MONDO:equivalentTo"} xref: GARD:0010474 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="ORDO:98761/attributed", source="ORDO:98761/ntbt", source="Orphanet:98761"} +xref: ICD10CM:G11.2 {source="Orphanet:98761/attributed", source="Orphanet:98761/ntbt", source="Orphanet:98761"} xref: MESH:C566874 {source="MONDO:equivalentTo"} -xref: OMIM:603516 {source="DOID:0050960", source="MONDO:equivalentTo", source="ORDO:98761/e", source="Orphanet:98761"} +xref: OMIM:603516 {source="DOID:0050960", source="Orphanet:98761/e", source="MONDO:equivalentTo", source="Orphanet:98761"} xref: Orphanet:98761 {source="MONDO:equivalentTo", source="OMIM:603516"} xref: SCTID:715754007 {source="MONDO:equivalentTo"} xref: UMLS:C1963674 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603516", source="Orphanet:98761"} @@ -222843,13 +222786,13 @@ synonym: "chylothorax, congenital" RELATED [OMIM:603523] synonym: "hydrothorax, congenital" RELATED [OMIM:603523] xref: DOID:0060646 {source="MONDO:equivalentTo"} xref: GARD:0010156 {source="MONDO:equivalentTo"} -xref: ICD10CM:I89.8 {source="ORDO:264688/ntbt", source="Orphanet:264688"} +xref: ICD10CM:I89.8 {source="Orphanet:264688", source="Orphanet:264688/ntbt"} xref: ICD9:511.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535461 {source="MONDO:equivalentTo"} -xref: OMIM:603523 {source="MONDO:equivalentTo", source="ORDO:264688/e", source="DOID:0060646", source="Orphanet:264688"} +xref: OMIM:603523 {source="MONDO:equivalentTo", source="DOID:0060646", source="Orphanet:264688", source="Orphanet:264688/e"} xref: Orphanet:264688 {source="OMIM:603523", source="MONDO:equivalentTo", source="DOID:0060646"} xref: SCTID:233646003 {source="MONDO:equivalentTo"} -xref: UMLS:C0340014 {source="NCBI:mim2gene_medline", source="OMIM:603523", source="MONDO:equivalentTo", source="ORDO:264688/e", source="Orphanet:264688"} +xref: UMLS:C0340014 {source="NCBI:mim2gene_medline", source="OMIM:603523", source="MONDO:equivalentTo", source="Orphanet:264688", source="Orphanet:264688/e"} is_a: MONDO:0002037 {source="DOID:0060646", source="MESH:C535461/inferred"} ! pleural disorder is_a: MONDO:0017015 {source="Orphanet:264688"} ! primary interstitial lung disease specific to childhood relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -222888,11 +222831,11 @@ synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543] synonym: "LMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603543, Orphanet:69085] synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051] xref: GARD:0010051 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C535903 {source="ORDO:69085/e", source="MONDO:equivalentTo", source="Orphanet:69085"} -xref: OMIM:603543 {source="ORDO:69085/e", source="MONDO:equivalentTo", source="Orphanet:69085"} +xref: MESH:C535903 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} +xref: OMIM:603543 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: Orphanet:69085 {source="OMIM:603543", source="MONDO:equivalentTo"} xref: SCTID:721972001 {source="MONDO:equivalentTo"} -xref: UMLS:C1863753 {source="ORDO:69085/e", source="OMIM:603543", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:69085"} +xref: UMLS:C1863753 {source="OMIM:603543", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:69085", source="Orphanet:69085/e"} is_a: MONDO:0015853 {source="Orphanet:69085"} ! deficient breast volume or number is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -222922,13 +222865,13 @@ synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations leptodacty synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [DOID:0112199, OMIM:603546, Orphanet:93360] xref: DOID:0112199 {source="MONDO:equivalentTo"} xref: GARD:0009866 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:93360/attributed", source="ORDO:93360/ntbt", source="Orphanet:93360"} -xref: MESH:C535784 {source="MONDO:equivalentTo", source="ORDO:93360/e", source="Orphanet:93360"} +xref: ICD10CM:Q77.7 {source="Orphanet:93360/attributed", source="Orphanet:93360/ntbt", source="Orphanet:93360"} +xref: MESH:C535784 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="Orphanet:93360"} xref: NCIT:C125419 {source="MONDO:equivalentTo"} -xref: OMIM:603546 {source="MONDO:equivalentTo", source="DOID:0112199", source="ORDO:93360/e", source="Orphanet:93360"} +xref: OMIM:603546 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="DOID:0112199", source="Orphanet:93360"} xref: Orphanet:93360 {source="OMIM:603546", source="MONDO:equivalentTo", source="DOID:0112199"} xref: SCTID:766820007 {source="MONDO:equivalentTo"} -xref: UMLS:C1863732 {source="OMIM:603546", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:93360/e", source="Orphanet:93360"} +xref: UMLS:C1863732 {source="OMIM:603546", source="Orphanet:93360/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93360"} is_a: MONDO:0000426 {source="DOID:0112199"} ! autosomal dominant disease is_a: MONDO:0019675 {source="DC-OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6391 {source="mim2gene_medgen"} ! KIF22 @@ -223003,10 +222946,10 @@ synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [OMIM:6035 synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [OMIM:603554] xref: DOID:0060010 {source="MONDO:equivalentTo"} xref: GARD:0008198 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.8 {source="DOID:0060010", source="Orphanet:39041", source="ORDO:39041/attributed", source="ORDO:39041/ntbt"} -xref: MedDRA:10069097 {source="ORDO:39041/e", source="Orphanet:39041"} +xref: ICD10CM:D81.8 {source="DOID:0060010", source="Orphanet:39041", source="Orphanet:39041/attributed", source="Orphanet:39041/ntbt"} +xref: MedDRA:10069097 {source="Orphanet:39041", source="Orphanet:39041/e"} xref: NCIT:C61240 {source="MONDO:equivalentTo"} -xref: OMIM:603554 {source="DOID:0060010", source="ORDO:39041/e", source="Orphanet:39041", source="MONDO:equivalentTo"} +xref: OMIM:603554 {source="DOID:0060010", source="Orphanet:39041", source="MONDO:equivalentTo", source="Orphanet:39041/e"} xref: Orphanet:39041 {source="OMIM:603554", source="MONDO:equivalentTo"} xref: SCTID:722067005 {source="MONDO:equivalentTo"} xref: UMLS:C1801959 {source="OMIM:603554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61240"} @@ -223033,12 +222976,12 @@ synonym: "SPG8" EXACT ABBREVIATION [DOID:0110823, MONDO:Lexical, OMIM:603563, Or synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110823 {source="MONDO:equivalentTo"} xref: GARD:0009591 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100989/attributed", source="ORDO:100989/ntbt", source="DOID:0110823", source="Orphanet:100989"} -xref: MESH:C536867 {source="Orphanet:100989", source="ORDO:100989/e"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110823", source="Orphanet:100989", source="Orphanet:100989/attributed", source="Orphanet:100989/ntbt"} +xref: MESH:C536867 {source="Orphanet:100989/e", source="Orphanet:100989"} xref: MESH:C580458 {source="MONDO:equivalentTo"} -xref: OMIM:603563 {source="DOID:0110823", source="MONDO:equivalentTo", source="Orphanet:100989", source="ORDO:100989/e"} +xref: OMIM:603563 {source="Orphanet:100989/e", source="DOID:0110823", source="MONDO:equivalentTo", source="Orphanet:100989"} xref: Orphanet:100989 {source="OMIM:603563", source="DOID:0110823", source="MONDO:equivalentTo"} -xref: UMLS:C1863704 {source="OMIM:603563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100989", source="ORDO:100989/e"} +xref: UMLS:C1863704 {source="Orphanet:100989/e", source="OMIM:603563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100989"} is_a: MONDO:0015088 {source="Orphanet:100989"} ! autosomal dominant pure spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110823", source="MESH:C580458", source="MONDO:Redundant", source="OMIM:603563", source="Orphanet:100989/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia @@ -223053,13 +222996,13 @@ subset: gard_rare {source="GARD:0012008"} subset: ordo_morphological_anomaly {source="Orphanet:141127"} synonym: "tracheobronchial stenosis, congenital" RELATED [OMIM:603569] xref: GARD:0012008 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q32.1 {source="ORDO:141127/inclusion", source="ORDO:141127/ntbt", source="Orphanet:141127"} +xref: ICD10CM:Q32.1 {source="Orphanet:141127/inclusion", source="Orphanet:141127/ntbt", source="Orphanet:141127"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566362 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/1839"} -xref: OMIM:603569 {source="MONDO:equivalentTo", source="ORDO:141127/e", source="Orphanet:141127"} +xref: OMIM:603569 {source="Orphanet:141127/e", source="MONDO:equivalentTo", source="Orphanet:141127"} xref: Orphanet:141127 {source="MONDO:equivalentTo", source="OMIM:603569"} xref: SCTID:9660004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265767 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:141127/e", source="Orphanet:141127"} +xref: UMLS:C0265767 {source="Orphanet:141127/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141127"} xref: UMLS:C1863703 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:603569"} is_a: MONDO:0015505 {source="Orphanet:141127"} ! tracheal anomaly is_a: MONDO:0018562 {source="Orphanet:141127", source="Orphanet:141127/inferred"} ! genetic otorhinolaryngological malformation @@ -223095,9 +223038,9 @@ synonym: "congenital disorder of glycosylation, type IIf" RELATED [MONDO:Lexical synonym: "SLC35A1-CDG (CDG-IIf)" RELATED [GARD:0012409] xref: DOID:0070258 {source="MONDO:equivalentTo"} xref: GARD:0012409 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:238459", source="ORDO:238459/attributed", source="ORDO:238459/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:238459", source="Orphanet:238459/attributed", source="Orphanet:238459/ntbt"} xref: MESH:C567040 {source="MONDO:equivalentTo"} -xref: OMIM:603585 {source="Orphanet:238459", source="ORDO:238459/e", source="MONDO:equivalentTo"} +xref: OMIM:603585 {source="Orphanet:238459", source="MONDO:equivalentTo", source="Orphanet:238459/e"} xref: Orphanet:238459 {source="OMIM:603585", source="MONDO:equivalentTo"} xref: SCTID:723624008 {source="MONDO:equivalentTo"} xref: UMLS:C1970344 {source="OMIM:603585", source="Orphanet:238459", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -223154,9 +223097,9 @@ synonym: "xanthinuria, type 2" RELATED [OMIM:603592] synonym: "xanthinuria, type II" RELATED [OMIM:603592] synonym: "XDH and AOX dual deficiency" EXACT [Orphanet:93602] xref: GARD:0005620 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.8 {source="ORDO:93602/attributed", source="ORDO:93602/ntbt", source="Orphanet:93602"} +xref: ICD10CM:E79.8 {source="Orphanet:93602/attributed", source="Orphanet:93602/ntbt", source="Orphanet:93602"} xref: MESH:C566358 {source="MONDO:equivalentTo"} -xref: OMIM:603592 {source="MONDO:equivalentTo", source="ORDO:93602/e", source="Orphanet:93602"} +xref: OMIM:603592 {source="Orphanet:93602/e", source="MONDO:equivalentTo", source="Orphanet:93602"} xref: Orphanet:3467 {source="MONDO:subClassOf", source="OMIM:603592"} xref: Orphanet:93602 {source="MONDO:equivalentTo", source="OMIM:603592"} xref: UMLS:C1863688 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93602", source="OMIM:603592"} @@ -223190,15 +223133,15 @@ synonym: "nonsyndromic polydactyly (disease)" EXACT [MONDO:patterns/isolated] synonym: "polydactylia" RELATED [GARD:0004410] synonym: "supernumerary digits" RELATED [GARD:0004410] xref: GARD:0004410 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q69.0 {source="ORDO:2913/btnt", source="ORDO:2913/specific"} -xref: ICD10CM:Q69.1 {source="ORDO:2913/btnt", source="ORDO:2913/specific"} -xref: ICD10CM:Q69.2 {source="ORDO:2913/btnt", source="ORDO:2913/specific"} -xref: ICD10CM:Q69.9 {source="ORDO:2913/btnt", source="ORDO:2913/specific"} -xref: MedDRA:10036063 {source="ORDO:2913/e"} -xref: MESH:D017689 {source="ORDO:2913/e"} -xref: OMIM:603596 {source="MONDO:subClassOf", source="ORDO:2913/e"} +xref: ICD10CM:Q69.0 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} +xref: ICD10CM:Q69.1 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} +xref: ICD10CM:Q69.2 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} +xref: ICD10CM:Q69.9 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} +xref: MedDRA:10036063 {source="Orphanet:2913/e"} +xref: MESH:D017689 {source="Orphanet:2913/e"} +xref: OMIM:603596 {source="MONDO:subClassOf", source="Orphanet:2913/e"} xref: Orphanet:2913 {source="OMIM:603596", source="MONDO:equivalentTo"} -xref: UMLS:C0152427 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2913/e"} +xref: UMLS:C0152427 {source="Orphanet:2913/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019714 {source="Orphanet:2913"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy is_a: MONDO:0021003 {source="MONDO:Redundant", source="MONDO:cjm"} ! polydactyly intersection_of: MONDO:0021003 ! polydactyly @@ -223223,8 +223166,7 @@ synonym: "autosomal dominant nonsyndromic deafness 17" NARROW [OMIM:603622] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH9" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 17" NARROW [DOID:0110548, MONDORULE:2] synonym: "cochleosaccular degeneration" RELATED [OMIM:603622] -synonym: "deafness, autosomal dominant 17" NARROW [OMIM:603622, OMIM:genemap2] -synonym: "deafness, autosomal dominant 17" NARROW [MONDO:Lexical, OMIM:603622] +synonym: "deafness, autosomal dominant 17" NARROW [MONDO:Lexical, OMIM:603622, OMIM:genemap2] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" NARROW [GARD:0009726] synonym: "deafness, autosomal dominant type 17" NARROW [MONDORULE:2, OMIM:603622] synonym: "DFNA17" NARROW ABBREVIATION [DOID:0110548, MONDO:Lexical, OMIM:603622] @@ -223253,8 +223195,7 @@ synonym: "autosomal recessive nonsyndromic deafness 21" NARROW CLINGEN_PREFERRED synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TECTA" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in tecta" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 21" NARROW [DOID:0110479, MONDORULE:2] -synonym: "deafness, autosomal recessive 21" NARROW [OMIM:603629, OMIM:genemap2] -synonym: "deafness, autosomal recessive 21" NARROW [MONDO:Lexical, OMIM:603629] +synonym: "deafness, autosomal recessive 21" NARROW [MONDO:Lexical, OMIM:603629, OMIM:genemap2] synonym: "deafness, autosomal recessive type 21" NARROW [MONDORULE:2, OMIM:603629] synonym: "DFNB21" NARROW ABBREVIATION [DOID:0110479, MONDO:Lexical, OMIM:603629] synonym: "TECTA autosomal recessive nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene] @@ -223371,13 +223312,13 @@ synonym: "Toriello syndrome" EXACT [Orphanet:1827] xref: DOID:0060342 {source="MONDO:equivalentTo"} xref: GARD:0002393 {source="MONDO:equivalentTo"} xref: GARD:0005539 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:1827/attributed", source="ORDO:1827/ntbt", source="Orphanet:1827"} -xref: MESH:C535657 {source="ORDO:1827/e", source="Orphanet:1827"} +xref: ICD10CM:Q75.8 {source="Orphanet:1827/attributed", source="Orphanet:1827/ntbt", source="Orphanet:1827"} +xref: MESH:C535657 {source="Orphanet:1827/e", source="Orphanet:1827"} xref: MESH:C566345 {source="MONDO:equivalentTo"} -xref: OMIM:603671 {source="DOID:0060342", source="MONDO:equivalentTo", source="ORDO:1827/e", source="Orphanet:1827"} +xref: OMIM:603671 {source="DOID:0060342", source="Orphanet:1827/e", source="MONDO:equivalentTo", source="Orphanet:1827"} xref: Orphanet:1827 {source="MONDO:equivalentTo", source="OMIM:603671"} xref: SCTID:715427008 {source="MONDO:equivalentTo"} -xref: UMLS:C0796182 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1827/e", source="GARD:0002393", source="Orphanet:1827"} +xref: UMLS:C0796182 {source="Orphanet:1827/e", source="MONDO:notFoundInDiseaseSubset", source="GARD:0002393", source="Orphanet:1827"} xref: UMLS:C1863616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603671"} is_a: MONDO:0016643 {source="Orphanet:1827"} ! frontonasal dysplasia is_a: MONDO:0018237 {source="Orphanet:1827"} ! acrofacial dysostosis @@ -223392,8 +223333,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 14" NARROW [DOID:0110469] synonym: "autosomal recessive nonsyndromic deafness 14" NARROW [OMIM:603678] synonym: "autosomal recessive nonsyndromic deafness type 14" NARROW [DOID:0110469, MONDORULE:2] -synonym: "deafness, autosomal recessive 14" NARROW [OMIM:603678, OMIM:genemap2] -synonym: "deafness, autosomal recessive 14" NARROW [MONDO:Lexical, OMIM:603678] +synonym: "deafness, autosomal recessive 14" NARROW [MONDO:Lexical, OMIM:603678, OMIM:genemap2] synonym: "DFNB14" NARROW ABBREVIATION [DOID:0110469, MONDO:Lexical, OMIM:603678] xref: DOID:0110469 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110469"} @@ -223414,7 +223354,7 @@ synonym: "prostate cancer/brain cancer susceptibility" EXACT [OMIM:603688] synonym: "prostate cancer/brain cancer susceptibility, somatic" EXACT [OMIM:603688, OMIM:genemap2] xref: OMIM:603688 {source="MONDO:equivalentTo"} xref: UMLS:C1863600 {source="NCBI:mim2gene_medline", source="OMIM:603688", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0008315 {source="ORDO:1331/btnt"} ! prostate cancer +is_a: MONDO:0008315 {source="Orphanet:1331/btnt"} ! prostate cancer relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3393 {source="mim2gene_medgen"} ! EPHB2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.7142857142857151" xsd:double @@ -223438,11 +223378,11 @@ synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" synonym: "myopathy, proximal, with early respiratory muscle involvement" EXACT [OMIM:603689] xref: DOID:0111188 {source="MONDO:equivalentTo"} xref: GARD:0012591 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:178464", source="ORDO:178464/attributed", source="ORDO:178464/ntbt", source="ORDO:34521/attributed", source="ORDO:34521/ntbt", source="Orphanet:34521"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:178464/attributed", source="Orphanet:178464/ntbt", source="Orphanet:178464", source="Orphanet:34521/attributed", source="Orphanet:34521/ntbt", source="Orphanet:34521"} xref: MESH:C564377 {source="MONDO:equivalentTo"} xref: MESH:C566343 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:603689 {source="ORDO:178464/e", source="Orphanet:178464", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:607569 {source="MONDO:equivalentTo", source="ORDO:34521/e", source="Orphanet:34521"} +xref: OMIM:603689 {source="Orphanet:178464", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:178464/e"} +xref: OMIM:607569 {source="Orphanet:34521/e", source="MONDO:equivalentTo", source="Orphanet:34521"} xref: Orphanet:178464 {source="OMIM:603689", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:34521 {source="OMIM:607569", source="MONDO:equivalentTo"} xref: SCTID:702373006 {source="MONDO:equivalentTo"} @@ -223483,8 +223423,7 @@ synonym: "autosomal recessive deafness 16" NARROW [DOID:0110471] synonym: "autosomal recessive nonsyndromic deafness 16" NARROW CLINGEN_PREFERRED [OMIM:603720] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in STRC" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 16" NARROW [DOID:0110471, MONDORULE:2] -synonym: "deafness, autosomal recessive 16" NARROW [MONDO:Lexical, OMIM:603720] -synonym: "deafness, autosomal recessive 16" NARROW [OMIM:603720, OMIM:genemap2] +synonym: "deafness, autosomal recessive 16" NARROW [MONDO:Lexical, OMIM:603720, OMIM:genemap2] synonym: "deafness, autosomal recessive type 16" NARROW [MONDORULE:2, OMIM:603720] synonym: "DFNB16" NARROW ABBREVIATION [DOID:0110471, MONDO:Lexical, OMIM:603720] synonym: "STRC autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -223513,10 +223452,10 @@ synonym: "SBBYSS" EXACT ABBREVIATION [DOID:0060290, MONDO:Lexical, OMIM:603736, synonym: "SBBYSS syndrome" EXACT [OMIM:603736, OMIM:genemap2] synonym: "Young-Simpson syndrome" RELATED [OMIM:603736] xref: DOID:0060290 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3047", source="ORDO:3047/attributed", source="ORDO:3047/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3047/attributed", source="Orphanet:3047/ntbt", source="Orphanet:3047"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536717 {source="MONDO:equivalentTo", source="DOID:0060290"} -xref: OMIM:603736 {source="ORDO:3047/e", source="Orphanet:3047", source="MONDO:equivalentTo", source="DOID:0060290"} +xref: OMIM:603736 {source="Orphanet:3047", source="MONDO:equivalentTo", source="Orphanet:3047/e", source="DOID:0060290"} xref: Orphanet:3047 {source="MONDO:equivalentTo", source="OMIM:603736", source="DOID:0060290"} xref: SCTID:699298009 {source="MONDO:equivalentTo", source="DOID:0060290"} xref: UMLS:C1863557 {source="Orphanet:3047", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:603736", source="DOID:0060290"} @@ -223584,7 +223523,7 @@ xref: NCIT:C46004 {source="MONDO:equivalentTo"} xref: OMIM:603744 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:603744"} xref: UMLS:C1709457 {source="OMIM:603744", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C46004"} -is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma +is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma property_value: confidence "1.198067632850242" xsd:double [Term] @@ -223656,7 +223595,7 @@ synonym: "microcephaly with simplified gyral pattern" EXACT [OMIM:603802] xref: MESH:C566332 {source="MONDO:equivalentTo"} xref: OMIM:603802 {source="MONDO:equivalentTo"} xref: UMLS:C1863516 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603802"} -is_a: MONDO:0016660 {source="ORDO:2512/btnt"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="Orphanet:2512/btnt"} ! autosomal recessive primary microcephaly property_value: confidence "0.5073248878127503" xsd:double [Term] @@ -223694,7 +223633,7 @@ xref: NCIT:C128114 {source="MONDO:equivalentTo"} xref: OMIM:603813 {source="MONDO:equivalentTo", source="DOID:0090105"} xref: Orphanet:391665 {source="MONDO:subClassOf", source="OMIM:603813", source="DOID:0090105"} xref: UMLS:C1863512 {source="NCIT:C128114", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603813"} -is_a: MONDO:0018328 {source="ORDO:391665/btnt"} ! homozygous familial hypercholesterolemia +is_a: MONDO:0018328 {source="Orphanet:391665/btnt"} ! homozygous familial hypercholesterolemia is_a: MONDO:0037748 {source="NCIT:C128114", source="indirect"} ! hyperlipoproteinemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18640 {source="mim2gene_medgen"} ! LDLRAP1 property_value: confidence "1.0" xsd:double @@ -223719,9 +223658,9 @@ synonym: "ventricular fibrillation, familial, 1" EXACT [OMIM:603829, OMIM:genema synonym: "ventricular fibrillation, paroxysmal familial, 1" EXACT [MONDO:Lexical, OMIM:603829] synonym: "ventricular fibrillation, paroxysmal familial, type 1" EXACT [MONDORULE:1, OMIM:603829] synonym: "VF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603829] -xref: ICD10CM:I49.0 {source="ORDO:228140/attributed", source="ORDO:228140/ntbt", source="Orphanet:228140"} +xref: ICD10CM:I49.0 {source="Orphanet:228140", source="Orphanet:228140/attributed", source="Orphanet:228140/ntbt"} xref: MESH:C567851 {source="MONDO:equivalentTo"} -xref: OMIM:603829 {source="MONDO:equivalentTo", source="Orphanet:228140", source="ORDO:228140/e"} +xref: OMIM:603829 {source="MONDO:equivalentTo", source="Orphanet:228140", source="Orphanet:228140/e"} xref: Orphanet:228140 {source="MONDO:subClassOf", source="OMIM:603829"} xref: SCTID:233915000 {source="MONDO:equivalentTo"} xref: UMLS:C2751898 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603829"} @@ -223815,11 +223754,11 @@ synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [O synonym: "VWM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603896] xref: DOID:0060868 {source="MONDO:equivalentTo"} xref: GARD:0000231 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="DOID:0060868", source="ORDO:135/attributed", source="ORDO:135/ntbt", source="Orphanet:135"} -xref: MESH:C537420 {source="ORDO:135/e", source="Orphanet:135"} +xref: ICD10CM:E75.2 {source="Orphanet:135/attributed", source="Orphanet:135/ntbt", source="DOID:0060868", source="Orphanet:135"} +xref: MESH:C537420 {source="Orphanet:135/e", source="Orphanet:135"} xref: NCIT:C122664 {source="MONDO:equivalentTo"} -xref: OMIM:603896 {source="MONDO:equivalentTo", source="DOID:0060868", source="ORDO:135/e", source="Orphanet:135"} -xref: OMIM:615889 {source="MONDO:superClassOf", source="ORDO:135/btnt", source="Orphanet:135"} +xref: OMIM:603896 {source="Orphanet:135/e", source="MONDO:equivalentTo", source="DOID:0060868", source="Orphanet:135"} +xref: OMIM:615889 {source="MONDO:superClassOf", source="Orphanet:135/btnt", source="Orphanet:135"} xref: Orphanet:135 {source="OMIM:603896", source="MONDO:equivalentTo", source="DOID:0060868"} xref: Orphanet:157713 {source="OMIM:603896", source="MONDO:superClassOf"} xref: Orphanet:157716 {source="OMIM:603896", source="MONDO:superClassOf"} @@ -223828,8 +223767,8 @@ xref: Orphanet:99853 {source="OMIM:603896", source="MONDO:superClassOf"} xref: Orphanet:99854 {source="OMIM:603896", source="MONDO:superClassOf"} xref: SCTID:447351004 {source="MONDO:equivalentTo"} xref: UMLS:C1847967 {source="OMIM:603896", source="MONDO:superClassOf"} -xref: UMLS:C1858991 {source="OMIM:603896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122664", source="ORDO:135/e", source="Orphanet:135"} -xref: UMLS:C2931489 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:135/e", source="Orphanet:135"} +xref: UMLS:C1858991 {source="OMIM:603896", source="Orphanet:135/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122664", source="Orphanet:135"} +xref: UMLS:C2931489 {source="Orphanet:135/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:135"} xref: UMLS:CN199219 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="DOID:0060868", source="Orphanet:135"} ! leukodystrophy property_value: confidence "11.952380952380949" xsd:double @@ -223843,9 +223782,9 @@ synonym: "beta-thalassemia, dominant inclusion body type" RELATED [OMIM:603902] synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [OMIM:603902] synonym: "inclusion body beta-thalassemia" EXACT [Orphanet:231226] synonym: "thalassemia-beta, dominant inclusion-body" EXACT [OMIM:603902] -xref: ICD10CM:D56.1 {source="ORDO:231226/attributed", source="ORDO:231226/ntbt", source="Orphanet:231226"} +xref: ICD10CM:D56.1 {source="Orphanet:231226", source="Orphanet:231226/attributed", source="Orphanet:231226/ntbt"} xref: MESH:C565834 {source="MONDO:equivalentTo"} -xref: OMIM:603902 {source="MONDO:equivalentTo", source="ORDO:231226/e", source="Orphanet:231226"} +xref: OMIM:603902 {source="MONDO:equivalentTo", source="Orphanet:231226", source="Orphanet:231226/e"} xref: Orphanet:231226 {source="MONDO:equivalentTo", source="OMIM:603902"} xref: SCTID:716682000 {source="MONDO:equivalentTo"} xref: UMLS:C1858990 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:603902", source="Orphanet:231226"} @@ -223875,19 +223814,19 @@ xref: DOID:10923 {source="MONDO:equivalentTo"} xref: EFO:1001797 {source="MONDO:equivalentTo"} xref: GARD:0008614 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:D57 {source="DOID:10923"} -xref: ICD10CM:D57.0 {source="ORDO:232/btnt", source="ORDO:232/specific", source="Orphanet:232"} -xref: ICD10CM:D57.1 {source="ORDO:232/btnt", source="DOID:10923", source="ORDO:232/specific", source="Orphanet:232"} -xref: ICD10CM:D57.2 {source="ORDO:232/btnt", source="DOID:10923", source="ORDO:232/specific", source="Orphanet:232"} +xref: ICD10CM:D57.0 {source="Orphanet:232/specific", source="Orphanet:232/btnt", source="Orphanet:232"} +xref: ICD10CM:D57.1 {source="Orphanet:232/specific", source="DOID:10923", source="Orphanet:232/btnt", source="Orphanet:232"} +xref: ICD10CM:D57.2 {source="Orphanet:232/specific", source="DOID:10923", source="Orphanet:232/btnt", source="Orphanet:232"} xref: ICD10CM:D57.20 {source="DOID:10923"} xref: ICD9:282.6 {source="DOID:10923"} xref: ICD9:282.60 {source="DOID:10923"} xref: ICD9:282.63 {source="DOID:10923"} -xref: MedDRA:10040641 {source="ORDO:232/e", source="Orphanet:232"} -xref: MESH:D000755 {source="MONDO:equivalentTo", source="DOID:10923", source="ORDO:232/e", source="Orphanet:232"} +xref: MedDRA:10040641 {source="Orphanet:232/e", source="Orphanet:232"} +xref: MESH:D000755 {source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="Orphanet:232"} xref: MESH:D006450 {source="DOID:10923"} xref: NCIT:C34383 {source="MONDO:equivalentTo", source="DOID:10923"} xref: NCIT:C34676 {source="DOID:10923"} -xref: OMIM:603903 {source="MONDO:equivalentTo", source="DOID:10923", source="ORDO:232/e", source="Orphanet:232"} +xref: OMIM:603903 {source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="Orphanet:232"} xref: Orphanet:232 {source="MONDO:equivalentTo", source="OMIM:603903"} xref: SCTID:127040003 {source="DOID:10923"} xref: SCTID:154798006 {source="DOID:10923"} @@ -223898,7 +223837,7 @@ xref: SCTID:276267006 {source="DOID:10923"} xref: SCTID:35434009 {source="DOID:10923"} xref: SCTID:417357006 {source="DOID:10923"} xref: SCTID:80046004 {source="DOID:10923"} -xref: UMLS:C0002895 {source="NCIT:C34383", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:10923", source="OMIM:603903", source="ORDO:232/e", source="Orphanet:232"} +xref: UMLS:C0002895 {source="NCIT:C34383", source="Orphanet:232/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:10923", source="OMIM:603903", source="Orphanet:232"} xref: UMLS:C0019034 {source="MONDO:relatedTo", source="DOID:10923"} is_a: MONDO:0005240 ! kidney disorder is_a: MONDO:0005570 ! hematologic disorder @@ -224051,8 +223990,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 16" NARROW [DOID:0110547] synonym: "autosomal dominant nonsyndromic deafness 16" NARROW [OMIM:603964] synonym: "autosomal dominant nonsyndromic deafness type 16" NARROW [DOID:0110547, MONDORULE:2] -synonym: "deafness, autosomal dominant 16" NARROW [MONDO:Lexical, OMIM:603964] -synonym: "deafness, autosomal dominant 16" NARROW [OMIM:603964, OMIM:genemap2] +synonym: "deafness, autosomal dominant 16" NARROW [MONDO:Lexical, OMIM:603964, OMIM:genemap2] synonym: "DFNA16" NARROW ABBREVIATION [DOID:0110547, MONDO:Lexical, OMIM:603964] xref: DOID:0110547 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110547"} @@ -224101,11 +224039,11 @@ synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts synonym: "Van der Knaap syndrome" EXACT [Orphanet:2478] xref: DOID:0080315 {source="MONDO:equivalentTo"} xref: GARD:0003445 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:2478", source="ORDO:2478/attributed", source="ORDO:2478/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:2478/attributed", source="Orphanet:2478/ntbt", source="Orphanet:2478"} xref: MESH:C536141 {source="MONDO:equivalentTo"} -xref: OMIM:604004 {source="Orphanet:2478", source="ORDO:2478/e", source="MONDO:superClassOf"} -xref: OMIM:613925 {source="Orphanet:2478", source="ORDO:2478/btnt", source="MONDO:superClassOf"} -xref: OMIM:613926 {source="Orphanet:2478", source="ORDO:2478/btnt", source="MONDO:superClassOf"} +xref: OMIM:604004 {source="Orphanet:2478", source="MONDO:superClassOf", source="Orphanet:2478/e"} +xref: OMIM:613925 {source="Orphanet:2478/btnt", source="Orphanet:2478", source="MONDO:superClassOf"} +xref: OMIM:613926 {source="Orphanet:2478/btnt", source="Orphanet:2478", source="MONDO:superClassOf"} xref: Orphanet:2478 {source="OMIM:604004", source="MONDO:equivalentTo"} xref: SCTID:703536004 {source="MONDO:equivalentTo"} xref: UMLS:CN176898 {source="MONDO:equivalentTo"} @@ -224121,8 +224059,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 20" NARROW [DOID:0110478] synonym: "autosomal recessive nonsyndromic deafness 20" NARROW [OMIM:604060] synonym: "autosomal recessive nonsyndromic deafness type 20" NARROW [DOID:0110478, MONDORULE:2] -synonym: "deafness, autosomal recessive 20" NARROW [OMIM:604060, OMIM:genemap2] -synonym: "deafness, autosomal recessive 20" NARROW [MONDO:Lexical, OMIM:604060] +synonym: "deafness, autosomal recessive 20" NARROW [MONDO:Lexical, OMIM:604060, OMIM:genemap2] synonym: "DFNB20" NARROW ABBREVIATION [DOID:0110478, MONDO:Lexical, OMIM:604060] xref: DOID:0110478 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110478"} @@ -224196,9 +224133,9 @@ synonym: "loricrin keratoderma" EXACT [OMIM:604117, Orphanet:79395] synonym: "mutilating keratoderma with ichthyosis" RELATED [OMIM:604117] synonym: "Vohwinkel syndrome with ichthyosis" EXACT [OMIM:604117, Orphanet:79395] synonym: "Vohwinkel syndrome, variant form" RELATED [OMIM:604117] -xref: ICD10CM:Q82.8 {source="ORDO:79395/attributed", source="ORDO:79395/ntbt", source="Orphanet:79395"} +xref: ICD10CM:Q82.8 {source="Orphanet:79395", source="Orphanet:79395/attributed", source="Orphanet:79395/ntbt"} xref: MESH:C565826 {source="MONDO:equivalentTo"} -xref: OMIM:604117 {source="MONDO:equivalentTo", source="ORDO:79395/e", source="Orphanet:79395"} +xref: OMIM:604117 {source="MONDO:equivalentTo", source="Orphanet:79395", source="Orphanet:79395/e"} xref: Orphanet:79395 {source="OMIM:604117", source="MONDO:equivalentTo"} xref: SCTID:717183001 {source="MONDO:equivalentTo"} xref: UMLS:C1858805 {source="NCBI:mim2gene_medline", source="OMIM:604117", source="MONDO:equivalentTo", source="Orphanet:79395"} @@ -224223,7 +224160,7 @@ synonym: "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" REL synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604121] xref: DOID:0050968 {source="MONDO:equivalentTo"} xref: GARD:0012372 {source="MONDO:equivalentTo"} -xref: OMIM:604121 {source="ORDO:314404/e", source="Orphanet:314404", source="MONDO:equivalentTo", source="DOID:0050968"} +xref: OMIM:604121 {source="Orphanet:314404", source="MONDO:equivalentTo", source="DOID:0050968", source="Orphanet:314404/e"} xref: Orphanet:314404 {source="MONDO:equivalentTo", source="OMIM:604121"} xref: UMLS:C1858804 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3807295 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604121"} @@ -224248,10 +224185,10 @@ synonym: "DEB-Pr" EXACT [Orphanet:89843] synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129] synonym: "epidermolysis bullosa pruriginosa" RELATED [OMIM:604129] synonym: "pruriginous dystrophic epidermolysis bullosa" EXACT [Orphanet:89843] -xref: ICD10CM:Q81.2 {source="Orphanet:89843", source="ORDO:89843/attributed", source="ORDO:89843/ntbt"} +xref: ICD10CM:Q81.2 {source="Orphanet:89843/attributed", source="Orphanet:89843/ntbt", source="Orphanet:89843"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563192 {source="MONDO:equivalentTo"} -xref: OMIM:604129 {source="Orphanet:89843", source="MONDO:equivalentTo", source="ORDO:89843/e"} +xref: OMIM:604129 {source="Orphanet:89843", source="MONDO:equivalentTo", source="Orphanet:89843/e"} xref: Orphanet:89843 {source="OMIM:604129", source="MONDO:equivalentTo"} xref: SCTID:403810008 {source="MONDO:equivalentTo"} xref: UMLS:C1275114 {source="Orphanet:89843", source="OMIM:604129", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -224272,18 +224209,18 @@ synonym: "thalassemia, alpha-" EXACT [OMIM:604131, OMIM:genemap2] synonym: "thalassemias, alpha-" EXACT [OMIM:604131, OMIM:genemap2] xref: DOID:1099 {source="MONDO:equivalentTo"} xref: GARD:0000621 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D56.0 {source="ORDO:846/e", source="DOID:1099", source="ORDO:846/specific", source="MONDO:equivalentTo", source="Orphanet:846"} +xref: ICD10CM:D56.0 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/specific", source="Orphanet:846/e"} xref: ICD9:282.43 {source="DOID:1099"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10043390 {source="ORDO:846/e", source="Orphanet:846"} -xref: MESH:D017085 {source="ORDO:846/e", source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846"} +xref: MedDRA:10043390 {source="Orphanet:846", source="Orphanet:846/e"} +xref: MESH:D017085 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/e"} xref: NCIT:C34368 {source="DOID:1099", source="MONDO:equivalentTo"} -xref: OMIM:604131 {source="ORDO:846/e", source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846"} +xref: OMIM:604131 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/e"} xref: Orphanet:846 {source="MONDO:equivalentTo", source="OMIM:604131"} xref: SCTID:191186002 {source="DOID:1099"} xref: SCTID:68913001 {source="DOID:1099", source="MONDO:equivalentTo"} -xref: UMLS:C0002312 {source="ORDO:846/e", source="DOID:1099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:846", source="NCIT:C34368", source="OMIM:604131"} -xref: UMLS:C1456873 {source="ORDO:846/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:846"} +xref: UMLS:C0002312 {source="DOID:1099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:846", source="NCIT:C34368", source="OMIM:604131", source="Orphanet:846/e"} +xref: UMLS:C1456873 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:846", source="Orphanet:846/e"} is_a: MONDO:0000984 {source="DOID:1099", source="ICD10CM:D56.0", source="MESH:D017085", source="NCIT:C34368", source="Orphanet:846/inferred", source="linkedlifedata"} ! thalassemia is_a: MONDO:0005240 ! kidney disorder is_a: MONDO:0005570 ! hematologic disorder @@ -224334,7 +224271,7 @@ xref: OMIM:611155 {source="MONDO:equivalentTo", source="DOID:0110048"} xref: UMLS:C1858751 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:604154"} xref: UMLS:C1970143 {source="OMIM:611155", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004975 {source="DC-OMIM:604154", source="MESH:C536599"} ! Alzheimer disease -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -224348,10 +224285,10 @@ synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED synonym: "CCFDN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604168, Orphanet:48431] synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168] synonym: "congenital cataracts-facial dysmorphism-neuropathy syndrome" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q87.8 {source="ORDO:48431/attributed", source="ORDO:48431/ntbt", source="Orphanet:48431"} +xref: ICD10CM:Q87.8 {source="Orphanet:48431/attributed", source="Orphanet:48431/ntbt", source="Orphanet:48431"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565822 {source="MONDO:equivalentTo"} -xref: OMIM:604168 {source="MONDO:equivalentTo", source="ORDO:48431/e", source="Orphanet:48431"} +xref: OMIM:604168 {source="Orphanet:48431/e", source="MONDO:equivalentTo", source="Orphanet:48431"} xref: Orphanet:48431 {source="OMIM:604168", source="MONDO:equivalentTo"} xref: SCTID:702433001 {source="MONDO:equivalentTo"} xref: UMLS:C1858726 {source="OMIM:604168", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:48431"} @@ -224411,8 +224348,8 @@ synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [Orphanet:221046 synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [OMIM:604173] xref: DOID:0060551 {source="MONDO:equivalentTo"} xref: GARD:0004085 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D82.8 {source="Orphanet:221046", source="DOID:0060551", source="ORDO:221046/attributed", source="ORDO:221046/ntbt"} -xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="ORDO:221046/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D82.8 {source="Orphanet:221046", source="DOID:0060551", source="Orphanet:221046/attributed", source="Orphanet:221046/ntbt"} +xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="MONDO:equivalentTo", source="Orphanet:221046/e"} xref: Orphanet:221046 {source="DOID:0060551", source="MONDO:equivalentTo", source="OMIM:604173"} xref: UMLS:C1858723 {source="Orphanet:221046", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604173"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia @@ -224445,7 +224382,7 @@ synonym: "Moebius syndrome 3, formerly" RELATED [OMIM:604185] xref: OMIM:604185 {source="MONDO:equivalentTo"} xref: Orphanet:306530 {source="MONDO:subClassOf", source="OMIM:604185"} xref: UMLS:C1858717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604185"} -is_a: MONDO:0017627 {source="ORDO:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome +is_a: MONDO:0017627 {source="Orphanet:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "39.49999999999994" xsd:double @@ -224467,12 +224404,12 @@ synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "SPG10" EXACT ABBREVIATION [DOID:0110763, MONDO:Lexical, OMIM:604187, Orphanet:100991] xref: DOID:0110763 {source="MONDO:equivalentTo"} xref: GARD:0009590 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100991", source="ORDO:100991/attributed", source="ORDO:100991/ntbt", source="DOID:0110763"} -xref: MESH:C537482 {source="ORDO:100991/e", source="Orphanet:100991", source="MONDO:equivalentTo"} -xref: OMIM:604187 {source="ORDO:100991/e", source="Orphanet:100991", source="MONDO:equivalentTo", source="DOID:0110763"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100991/attributed", source="Orphanet:100991/ntbt", source="Orphanet:100991", source="DOID:0110763"} +xref: MESH:C537482 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e"} +xref: OMIM:604187 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e", source="DOID:0110763"} xref: Orphanet:100991 {source="MONDO:equivalentTo", source="OMIM:604187", source="DOID:0110763"} xref: SCTID:732948003 {source="MONDO:equivalentTo"} -xref: UMLS:C1858712 {source="ORDO:100991/e", source="Orphanet:100991", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604187"} +xref: UMLS:C1858712 {source="Orphanet:100991", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100991/e", source="OMIM:604187"} xref: UMLS:C4518536 {source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100991"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110763", source="MESH:C537482", source="MONDO:Redundant", source="OMIM:604187", source="Orphanet:100991/inferred"} ! hereditary spastic paraplegia @@ -224518,9 +224455,9 @@ synonym: "deafness, bilateral sensorineural, and hydrocephalus due to foramen of synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086, OMIM:604213] xref: GARD:0000086 {source="MONDO:equivalentTo"} xref: MESH:C535459 {source="MONDO:equivalentTo"} -xref: OMIM:604213 {source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597", source="ORDO:314597/e"} +xref: OMIM:604213 {source="Orphanet:314597/e", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597"} xref: Orphanet:314597 {source="OMIM:604213", source="MONDO:equivalentTo"} -xref: UMLS:C1858695 {source="OMIM:604213", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597", source="ORDO:314597/e"} +xref: UMLS:C1858695 {source="OMIM:604213", source="Orphanet:314597/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597"} is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:314597", source="Orphanet:314597/inferred"} ! genetic nervous system disorder is_a: MONDO:0019589 {source="Orphanet:314597"} ! syndromic genetic hearing loss is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:314597", source="Orphanet:314597/inferred"} ! disorder of development or morphogenesis @@ -224538,13 +224475,13 @@ synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [ synonym: "FENIB" EXACT ABBREVIATION [DOID:0050831, MONDO:Lexical, OMIM:604218, Orphanet:85110] xref: DOID:0050831 {source="MONDO:equivalentTo"} xref: GARD:0010037 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:85110/attributed", source="ORDO:85110/ntbt", source="Orphanet:85110"} +xref: ICD10CM:G31.8 {source="Orphanet:85110/attributed", source="Orphanet:85110/ntbt", source="Orphanet:85110"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536841 {source="MONDO:equivalentTo", source="ORDO:85110/e", source="Orphanet:85110"} -xref: OMIM:604218 {source="MONDO:equivalentTo", source="DOID:0050831", source="ORDO:85110/e", source="Orphanet:85110"} +xref: MESH:C536841 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="Orphanet:85110"} +xref: OMIM:604218 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="DOID:0050831", source="Orphanet:85110"} xref: Orphanet:85110 {source="MONDO:equivalentTo", source="OMIM:604218"} xref: SCTID:702421006 {source="MONDO:equivalentTo"} -xref: UMLS:C1858680 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604218", source="ORDO:85110/e", source="Orphanet:85110"} +xref: UMLS:C1858680 {source="Orphanet:85110/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604218", source="Orphanet:85110"} is_a: MONDO:0020074 {source="Orphanet:85110"} ! progressive myoclonus epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8943 {source="mim2gene_medgen"} ! SERPINI1 property_value: confidence "3.2857142857142847" xsd:double @@ -224576,8 +224513,8 @@ is_a: MONDO:0005129 {source="DOID", source="DOID:0110266", source="MONDO:Redunda intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2388 ! CRYAA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2388 {source="mim2gene_medgen"} ! CRYAA -relationship: excluded_subClassOf MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract -relationship: excluded_subClassOf MONDO:0015300 {source="ORDO:1377/btnt"} ! cataract - microcornea syndrome +relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract +relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt"} ! cataract - microcornea syndrome [Term] id: MONDO:0011414 @@ -224593,11 +224530,11 @@ synonym: "Peters congenital glaucoma" EXACT [Orphanet:708] xref: DOID:0060673 {source="MONDO:equivalentTo"} xref: GARD:0007377 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0000659 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q13.4 {source="DOID:0060673", source="ORDO:708/ntbt", source="Orphanet:708", source="ORDO:708/inclusion"} +xref: ICD10CM:Q13.4 {source="DOID:0060673", source="Orphanet:708/inclusion", source="Orphanet:708", source="Orphanet:708/ntbt"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059202 {source="ORDO:708/e", source="Orphanet:708"} -xref: MESH:C537884 {source="DOID:0060673", source="MONDO:equivalentTo", source="ORDO:708/e", source="Orphanet:708"} -xref: OMIM:604229 {source="DOID:0060673", source="MONDO:equivalentTo", source="ORDO:708/e", source="Orphanet:708"} +xref: MedDRA:10059202 {source="Orphanet:708/e", source="Orphanet:708"} +xref: MESH:C537884 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"} +xref: OMIM:604229 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"} xref: OMIM:612968 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:708"} xref: Orphanet:708 {source="DOID:0060673", source="MONDO:equivalentTo", source="OMIM:604229"} xref: SCTID:204153003 {source="MONDO:equivalentTo"} @@ -224666,12 +224603,12 @@ synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:pa synonym: "TFR2-related hemochromatosis" EXACT [DOID:0111030, Orphanet:225123] xref: DOID:0111030 {source="MONDO:equivalentTo"} xref: GARD:0010093 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="DOID:0111030", source="ORDO:225123/attributed", source="ORDO:225123/ntbt", source="Orphanet:225123"} -xref: MESH:C537248 {source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123", source="ORDO:225123/e"} -xref: OMIM:604250 {source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123", source="ORDO:225123/e"} +xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="DOID:0111030", source="Orphanet:225123/attributed", source="Orphanet:225123/ntbt", source="Orphanet:225123"} +xref: MESH:C537248 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"} +xref: OMIM:604250 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"} xref: Orphanet:225123 {source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250"} xref: SCTID:719974003 {source="MONDO:equivalentTo"} -xref: UMLS:C1858664 {source="NCBI:mim2gene_medline", source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250", source="Orphanet:225123", source="ORDO:225123/e"} +xref: UMLS:C1858664 {source="Orphanet:225123/e", source="NCBI:mim2gene_medline", source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250", source="Orphanet:225123"} is_a: MONDO:0006507 {source="DOID:0111030", source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="Orphanet:225123", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11762 ! TFR2 @@ -224719,9 +224656,9 @@ synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Le synonym: "Growth hormone, insensitivity to, partial" RELATED [MESH:C565805] synonym: "increased responsiveness to Growth hormone" RELATED [OMIM:604271] synonym: "short stature due to partial growth hormone receptor deficiency" EXACT [Orphanet:314802] -xref: ICD10CM:E34.3 {source="ORDO:314802/attributed", source="ORDO:314802/ntbt", source="Orphanet:314802"} +xref: ICD10CM:E34.3 {source="Orphanet:314802", source="Orphanet:314802/attributed", source="Orphanet:314802/ntbt"} xref: MESH:C565805 {source="MONDO:equivalentTo"} -xref: OMIM:604271 {source="ORDO:314802/e", source="MEDIC:C565805", source="MONDO:equivalentTo", source="Orphanet:314802"} +xref: OMIM:604271 {source="MEDIC:C565805", source="MONDO:equivalentTo", source="Orphanet:314802", source="Orphanet:314802/e"} xref: Orphanet:314802 {source="MONDO:equivalentTo", source="OMIM:604271"} xref: UMLS:C1858656 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604271"} is_a: MONDO:0006909 {source="MESH:C565805"} ! pituitary dwarfism @@ -224750,7 +224687,7 @@ xref: Orphanet:254913 {source="MONDO:subClassOf", source="DOID:0050768", source= xref: UMLS:C2700431 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604273"} xref: UMLS:C3276276 {source="MONDO:equivalentTo", source="OMIM:604273"} is_a: MONDO:0000066 {source="DC-OMIM:604273"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="DOID:0050768", source="ORDO:254913/btnt", source="indirect"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0050768", source="Orphanet:254913/btnt", source="indirect"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18802 ! ATPAF2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18802 {source="mim2gene_medgen"} ! ATPAF2 @@ -224770,7 +224707,7 @@ synonym: "renal tubular acidosis, proximal, with ocular abnormalities and intell synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED DEPRECATED [OMIM:604278] synonym: "RTA, proximal, autosomal recessive" RELATED [OMIM:604278] xref: MESH:C567038 {source="MONDO:equivalentTo"} -xref: OMIM:604278 {source="MONDO:equivalentTo", source="ORDO:93607/e", source="Orphanet:93607"} +xref: OMIM:604278 {source="Orphanet:93607/e", source="MONDO:equivalentTo", source="Orphanet:93607"} xref: Orphanet:47159 {source="MONDO:subClassOf", source="OMIM:604278"} xref: Orphanet:93607 {source="OMIM:604278", source="MONDO:equivalentTo"} xref: UMLS:C1970309 {source="OMIM:604278", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93607"} @@ -224800,8 +224737,8 @@ synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO: xref: DOID:0110279 {source="MONDO:equivalentTo"} xref: GARD:0000870 {source="MONDO:subClassOf"} xref: GARD:0003851 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:119", source="ORDO:119/inclusion", source="ORDO:119/ntbt", source="DOID:0110279"} -xref: OMIM:604286 {source="ORDO:119/e", source="Orphanet:119", source="MONDO:equivalentTo", source="DOID:0110279"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:119/ntbt", source="Orphanet:119/inclusion", source="Orphanet:119", source="DOID:0110279"} +xref: OMIM:604286 {source="Orphanet:119", source="MONDO:equivalentTo", source="Orphanet:119/e", source="DOID:0110279"} xref: Orphanet:119 {source="MONDO:equivalentTo", source="OMIM:604286", source="DOID:0110279"} xref: SCTID:718850008 {source="MONDO:equivalentTo"} xref: UMLS:C1858593 {source="Orphanet:119", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604286"} @@ -224825,10 +224762,10 @@ subset: ordo_disease {source="Orphanet:139411"} synonym: "Carney triad" EXACT [OMIM:604287] synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287] xref: GARD:0010924 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="ORDO:139411/attributed", source="ORDO:139411/ntbt", source="Orphanet:139411"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:139411/attributed", source="Orphanet:139411/ntbt", source="Orphanet:139411"} xref: MESH:C565803 {source="MONDO:equivalentTo"} xref: NCIT:C94833 {source="MONDO:equivalentTo"} -xref: OMIM:604287 {source="MONDO:equivalentTo", source="Orphanet:139411", source="ORDO:139411/e"} +xref: OMIM:604287 {source="Orphanet:139411/e", source="MONDO:equivalentTo", source="Orphanet:139411"} xref: Orphanet:139411 {source="MONDO:equivalentTo", source="OMIM:604287"} xref: SCTID:733492003 {source="MONDO:equivalentTo"} xref: UMLS:C1858592 {source="NCIT:C94833", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139411", source="OMIM:604287"} @@ -224877,10 +224814,10 @@ synonym: "hypoceruloplasminemia, hereditary" EXACT [OMIM:604290, OMIM:genemap2] synonym: "systemic hemosiderosis due to aceruloplasminemia" RELATED [GARD:0009499] xref: DOID:0050711 {source="MONDO:equivalentTo"} xref: GARD:0009499 {source="MONDO:equivalentTo"} -xref: ICD10CM:G23.0 {source="ORDO:48818/attributed", source="ORDO:48818/ntbt", source="Orphanet:48818"} +xref: ICD10CM:G23.0 {source="Orphanet:48818", source="Orphanet:48818/attributed", source="Orphanet:48818/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536004 {source="ORDO:48818/e", source="Orphanet:48818"} -xref: OMIM:604290 {source="ORDO:48818/e", source="DOID:0050711", source="MONDO:equivalentTo", source="Orphanet:48818"} +xref: MESH:C536004 {source="Orphanet:48818", source="Orphanet:48818/e"} +xref: OMIM:604290 {source="DOID:0050711", source="MONDO:equivalentTo", source="Orphanet:48818", source="Orphanet:48818/e"} xref: Orphanet:48818 {source="MONDO:equivalentTo", source="OMIM:604290"} xref: SCTID:124224004 {source="MONDO:equivalentTo"} xref: UMLS:C0878682 {source="NCBI:mim2gene_medline", source="Orphanet:48818", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604290"} @@ -224952,20 +224889,20 @@ synonym: "rheumatoid arthritis, systemic juvenile" RELATED [OMIM:604302] synonym: "rheumatoid arthritis, systemic juvenile, susceptibility to" EXACT [OMIM:604302, OMIM:genemap2] synonym: "systemic juvenile rheumatoid arthritis" NARROW [DOID:676, OMIM:604302] xref: DOID:676 {source="MONDO:equivalentTo"} -xref: ICD10CM:M08.0 {source="ORDO:92/btnt", source="Orphanet:92"} -xref: ICD10CM:M08.1 {source="ORDO:92/btnt", source="Orphanet:92"} -xref: ICD10CM:M08.2 {source="ORDO:92/btnt", source="Orphanet:92"} -xref: ICD10CM:M08.3 {source="ORDO:92/btnt", source="Orphanet:92"} -xref: ICD10CM:M08.4 {source="ORDO:92/btnt", source="DOID:676", source="MONDO:relatedTo", source="Orphanet:92"} +xref: ICD10CM:M08.0 {source="Orphanet:92", source="Orphanet:92/btnt"} +xref: ICD10CM:M08.1 {source="Orphanet:92", source="Orphanet:92/btnt"} +xref: ICD10CM:M08.2 {source="Orphanet:92", source="Orphanet:92/btnt"} +xref: ICD10CM:M08.3 {source="Orphanet:92", source="Orphanet:92/btnt"} +xref: ICD10CM:M08.4 {source="DOID:676", source="MONDO:relatedTo", source="Orphanet:92", source="Orphanet:92/btnt"} xref: ICD10CM:M08.40 {source="DOID:676"} -xref: ICD10CM:M08.8 {source="ORDO:92/btnt", source="Orphanet:92"} -xref: ICD10CM:M08.9 {source="ORDO:92/btnt", source="Orphanet:92"} +xref: ICD10CM:M08.8 {source="Orphanet:92", source="Orphanet:92/btnt"} +xref: ICD10CM:M08.9 {source="Orphanet:92", source="Orphanet:92/btnt"} xref: ICD9:714.3 {source="DOID:676"} xref: ICD9:714.31 {source="DOID:676"} xref: ICD9:714.32 {source="DOID:676", source="MONDO:relatedTo"} xref: ICD9:714.33 {source="DOID:676"} -xref: MedDRA:10059177 {source="Orphanet:92", source="ORDO:92/e"} -xref: MESH:D001171 {source="DOID:676", source="MONDO:equivalentTo", source="Orphanet:92", source="ORDO:92/e"} +xref: MedDRA:10059177 {source="Orphanet:92/e", source="Orphanet:92"} +xref: MESH:D001171 {source="Orphanet:92/e", source="DOID:676", source="MONDO:equivalentTo", source="Orphanet:92"} xref: NCIT:C114357 {source="MONDO:equivalentTo"} xref: NCIT:C26979 {source="DOID:676", source="MONDO:relatedTo"} xref: NCIT:C61279 {source="DOID:676"} @@ -224985,8 +224922,8 @@ xref: UMLS:C0157916 {source="DOID:676", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0157917 {source="DOID:676", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0157918 {source="DOID:676", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0409667 {source="DOID:676", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0553662 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:92", source="ORDO:92/e"} -xref: UMLS:C1444838 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:92", source="ORDO:92/e"} +xref: UMLS:C0553662 {source="Orphanet:92/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:92"} +xref: UMLS:C1444838 {source="Orphanet:92/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:92"} xref: UMLS:C1858558 {source="OMIM:604302", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3495559 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:92"} is_a: MONDO:0005554 {source="Orphanet:92"} ! rheumatic disorder @@ -225005,9 +224942,9 @@ subset: ordo_clinical_subtype {source="Orphanet:98984"} synonym: "Coppock-like cataract" EXACT [Orphanet:98984] synonym: "dusty cataract" EXACT [Orphanet:98984] synonym: "pulverulent cataract" EXACT [Orphanet:98984] -xref: ICD10CM:Q12.0 {source="Orphanet:98984", source="ORDO:98984/attributed", source="ORDO:98984/ntbt", source="DOID:0110235"} +xref: ICD10CM:Q12.0 {source="Orphanet:98984/attributed", source="Orphanet:98984/ntbt", source="Orphanet:98984", source="DOID:0110235"} xref: MESH:C565133 {source="MONDO:equivalentTo"} -xref: OMIM:116300 {source="Orphanet:98984", source="MONDO:superClassOf", source="ORDO:98984/btnt"} +xref: OMIM:116300 {source="Orphanet:98984/btnt", source="Orphanet:98984", source="MONDO:superClassOf"} xref: OMIM:604307 {source="MONDO:relatedTo", source="DOID:0110235"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:604307"} xref: Orphanet:98984 {source="MONDO:equivalentTo", source="OMIM:604307"} @@ -225016,7 +224953,7 @@ xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: UMLS:C1833118 {source="Orphanet:98984", source="MONDO:equivalentTo"} xref: UMLS:C1852438 {source="MONDO:relatedTo", source="Orphanet:98984", source="NCBI:mim2gene_medline"} xref: UMLS:CN207240 {source="MONDO:equivalentObsolete"} -is_a: MONDO:0011060 {source="ORDO:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2410 {source="mim2gene_medgen"} ! CRYGC relationship: excluded_subClassOf MONDO:0005129 {source="DOID:0110235", source="MESH:C565133"} ! cataract property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3904 xsd:string @@ -225054,7 +224991,7 @@ synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED DE synonym: "BMRS type V" EXACT [Orphanet:293725] synonym: "BMRS, Verloes type" EXACT [Orphanet:293725] xref: MESH:C565797 {source="MONDO:equivalentTo"} -xref: OMIM:604314 {source="Orphanet:293725", source="MONDO:equivalentTo", source="ORDO:293725/e"} +xref: OMIM:604314 {source="Orphanet:293725", source="MONDO:equivalentTo", source="Orphanet:293725/e"} xref: Orphanet:293725 {source="OMIM:604314", source="MONDO:equivalentTo"} xref: UMLS:C1858538 {source="Orphanet:293725", source="OMIM:604314", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017393 {source="Orphanet:293725"} ! blepharophimosis - intellectual disability syndrome @@ -225129,10 +225066,10 @@ synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MOND synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:604320] xref: DOID:0111064 {source="MONDO:equivalentTo"} xref: GARD:0008592 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:98920", source="DOID:0111064", source="ORDO:98920/attributed", source="ORDO:98920/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:98920/attributed", source="Orphanet:98920/ntbt", source="Orphanet:98920", source="DOID:0111064"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536880 {source="MONDO:equivalentTo"} -xref: OMIM:604320 {source="ORDO:98920/e", source="Orphanet:98920", source="MONDO:equivalentTo", source="DOID:0111064"} +xref: OMIM:604320 {source="Orphanet:98920", source="MONDO:equivalentTo", source="DOID:0111064", source="Orphanet:98920/e"} xref: Orphanet:98920 {source="MONDO:equivalentTo", source="DOID:0111064", source="OMIM:604320"} xref: SCTID:711483003 {source="MONDO:equivalentTo"} xref: UMLS:C1858517 {source="NCBI:mim2gene_medline", source="Orphanet:98920", source="MONDO:equivalentTo", source="OMIM:604320"} @@ -225203,10 +225140,10 @@ synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical, OMIM:604326] synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326] xref: DOID:0050962 {source="MONDO:equivalentTo"} xref: GARD:0010476 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:98762", source="ORDO:98762/attributed", source="ORDO:98762/ntbt"} +xref: ICD10CM:G11.2 {source="Orphanet:98762", source="Orphanet:98762/attributed", source="Orphanet:98762/ntbt"} xref: MESH:C565790 {source="MONDO:equivalentTo"} xref: NCIT:C154316 {source="MONDO:equivalentTo"} -xref: OMIM:604326 {source="Orphanet:98762", source="DOID:0050962", source="MONDO:equivalentTo", source="ORDO:98762/e"} +xref: OMIM:604326 {source="Orphanet:98762", source="DOID:0050962", source="MONDO:equivalentTo", source="Orphanet:98762/e"} xref: Orphanet:98762 {source="OMIM:604326", source="MONDO:equivalentTo"} xref: SCTID:719208005 {source="MONDO:equivalentTo"} xref: UMLS:C1858501 {source="Orphanet:98762", source="NCBI:mim2gene_medline", source="OMIM:604326", source="MONDO:equivalentTo"} @@ -225245,17 +225182,17 @@ synonym: "RSDS" EXACT ABBREVIATION [NCIT:C85042] xref: DOID:1811 {source="EFO:1001147", source="MONDO:equivalentTo"} xref: EFO:1001147 {source="MONDO:equivalentTo"} xref: ICD10CM:G90.5 {source="DOID:1811"} -xref: ICD10CM:M89.0 {source="Orphanet:99995", source="DOID:1811", source="ORDO:99995/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:M89.0 {source="Orphanet:99995", source="Orphanet:99995/ntbt", source="DOID:1811", source="MONDO:directSiblingOf"} xref: ICD9:337.2 {source="EFO:1001147", source="DOID:1811"} xref: ICD9:337.20 {source="MONDO:equivalentTo", source="i2s", source="DOID:1811"} xref: ICD9:337.21 {source="DOID:1811"} xref: ICD9:337.29 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:733.7 {source="MONDO:equivalentTo", source="i2s"} xref: MedDRA:10038249 {source="EFO:1001147"} -xref: MedDRA:10064334 {source="Orphanet:99995", source="ORDO:99995/e"} +xref: MedDRA:10064334 {source="Orphanet:99995", source="Orphanet:99995/e"} xref: MESH:D012019 {source="EFO:1001147", source="MONDO:equivalentTo", source="DOID:1811"} xref: NCIT:C85042 {source="MONDO:equivalentTo", source="DOID:1811"} -xref: OMIM:604335 {source="Orphanet:99995", source="MONDO:equivalentTo", source="DOID:1811", source="ORDO:99995/e"} +xref: OMIM:604335 {source="Orphanet:99995", source="MONDO:equivalentTo", source="Orphanet:99995/e", source="DOID:1811"} xref: Orphanet:83452 {source="MONDO:subClassOf", source="OMIM:604335"} xref: Orphanet:99995 {source="OMIM:604335", source="MONDO:equivalentTo"} xref: SCTID:128079007 {source="DOID:1811"} @@ -225331,7 +225268,7 @@ xref: Orphanet:233 {source="GARD:0009966", source="MONDO:subClassOf", source="OM xref: SCTID:128083007 {source="MONDO:equivalentTo"} xref: UMLS:C0751083 {source="GARD:0009966", source="OMIM:604356", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! syndromic disease -is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:604356", source="ORDO:233/btnt", source="linkedlifedata"} ! Duane retraction syndrome +is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:604356", source="Orphanet:233/btnt", source="linkedlifedata"} ! Duane retraction syndrome intersection_of: MONDO:0007473 ! Duane retraction syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1943 ! CHN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1943 {source="mim2gene_medgen"} ! CHN1 @@ -225363,15 +225300,15 @@ synonym: "SPG11" EXACT ABBREVIATION [DOID:0110764, MONDO:Lexical, OMIM:604360, O synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110764 {source="MONDO:equivalentTo"} xref: GARD:0004919 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110764", source="ORDO:2822/attributed", source="ORDO:2822/ntbt", source="Orphanet:2822"} -xref: MESH:C537483 {source="ORDO:2822/e", source="Orphanet:2822"} -xref: MESH:C538335 {source="ORDO:2822/e", source="Orphanet:2822"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110764", source="Orphanet:2822", source="Orphanet:2822/attributed", source="Orphanet:2822/ntbt"} +xref: MESH:C537483 {source="Orphanet:2822", source="Orphanet:2822/e"} +xref: MESH:C538335 {source="Orphanet:2822", source="Orphanet:2822/e"} xref: NCIT:C148317 {source="MONDO:equivalentTo"} -xref: OMIM:604360 {source="DOID:0110764", source="MONDO:equivalentTo", source="ORDO:2822/e", source="Orphanet:2822"} +xref: OMIM:604360 {source="DOID:0110764", source="MONDO:equivalentTo", source="Orphanet:2822", source="Orphanet:2822/e"} xref: Orphanet:2822 {source="DOID:0110764", source="MONDO:equivalentTo", source="OMIM:604360"} xref: SCTID:715491000 {source="MONDO:equivalentTo"} -xref: UMLS:C1858479 {source="NCBI:mim2gene_medline", source="ORDO:2822/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2822", source="OMIM:604360"} -xref: UMLS:C2931821 {source="ORDO:2822/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2822"} +xref: UMLS:C1858479 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2822", source="OMIM:604360", source="Orphanet:2822/e"} +xref: UMLS:C2931821 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2822", source="Orphanet:2822/e"} is_a: MONDO:0000508 {source="Orphanet:2822"} ! syndromic intellectual disability is_a: MONDO:0015150 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! complex hereditary spastic paraplegia is_a: MONDO:0017915 {source="Orphanet:2822"} ! pure or complex autosomal recessive spastic paraplegia @@ -225412,8 +225349,8 @@ synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical, OMIM: synonym: "PPARG-related FPLD" EXACT [Orphanet:79083] xref: DOID:0070204 {source="MONDO:equivalentTo"} xref: GARD:0012600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.1 {source="Orphanet:79083", source="ORDO:79083/attributed", source="ORDO:79083/ntbt"} -xref: OMIM:604367 {source="ORDO:79083/e", source="Orphanet:79083", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.1 {source="Orphanet:79083/attributed", source="Orphanet:79083/ntbt", source="Orphanet:79083"} +xref: OMIM:604367 {source="Orphanet:79083", source="MONDO:equivalentTo", source="Orphanet:79083/e"} xref: Orphanet:79083 {source="OMIM:604367", source="MONDO:equivalentTo"} xref: UMLS:C1720861 {source="OMIM:604367", source="Orphanet:79083", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020088 {source="DC-OMIM:604367", source="OMIM:604367", source="Orphanet:79083"} ! familial partial lipodystrophy @@ -225431,10 +225368,10 @@ synonym: "SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604369] synonym: "sialic acid storage disease" EXACT [NCIT:C85067] synonym: "sialuria, Finnish type" RELATED [OMIM:604369] xref: GARD:0004754 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:309334/attributed", source="ORDO:309334/ntbt", source="Orphanet:309334"} -xref: MedDRA:10067531 {source="ORDO:309334/e", source="Orphanet:309334"} +xref: ICD10CM:E77.8 {source="Orphanet:309334/attributed", source="Orphanet:309334/ntbt", source="Orphanet:309334"} +xref: MedDRA:10067531 {source="Orphanet:309334/e", source="Orphanet:309334"} xref: NCIT:C85067 {source="MONDO:equivalentTo"} -xref: OMIM:604369 {source="MONDO:equivalentTo", source="ORDO:309334/e", source="Orphanet:309334"} +xref: OMIM:604369 {source="Orphanet:309334/e", source="MONDO:equivalentTo", source="Orphanet:309334"} xref: Orphanet:309334 {source="OMIM:604369", source="MONDO:equivalentTo"} xref: Orphanet:834 {source="MONDO:subClassOf", source="OMIM:604369"} xref: SCTID:87074006 {source="MONDO:equivalentTo"} @@ -225467,7 +225404,7 @@ xref: Orphanet:227535 {source="MONDO:subClassOf", source="MONDO:superClassOf", s xref: UMLS:C2676676 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604370"} xref: UMLS:C2676677 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604370"} xref: UMLS:C2676678 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604370"} -is_a: MONDO:0003582 {source="DC-OMIM:604370", source="MONDO:Redundant", source="OMIM:604370", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome +is_a: MONDO:0003582 {source="DC-OMIM:604370", source="MONDO:Redundant", source="OMIM:604370", source="Orphanet:145/btnt"} ! hereditary breast ovarian cancer syndrome is_a: MONDO:0020573 {source="OMIM:604370"} ! inherited disease susceptibility intersection_of: MONDO:0003582 ! hereditary breast ovarian cancer syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1100 ! BRCA1 @@ -225529,8 +225466,8 @@ xref: UMLS:C1836672 {source="OMIM:604379", source="NCBI:mim2gene_medline", sourc xref: UMLS:C3148823 {source="OMIM:604379", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3148824 {source="OMIM:604379", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003037 {source="DOID:0110704", source="MESH:C536973/inferred", source="MONDO:Redundant", source="OMIM:604379", source="indirect"} ! hypotrichosis -is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! isolated familial woolly hair disorder -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial woolly hair disorder +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18483 ! LIPH relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18483 {source="mim2gene_medgen"} ! LIPH @@ -225553,9 +225490,9 @@ def: "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome subset: ordo_malformation_syndrome {source="Orphanet:228190"} synonym: "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" EXACT [Orphanet:228190] synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [OMIM:604381] -xref: ICD10CM:Q87.2 {source="Orphanet:228190", source="ORDO:228190/attributed", source="ORDO:228190/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:228190/attributed", source="Orphanet:228190/ntbt", source="Orphanet:228190"} xref: MESH:C565782 {source="MONDO:equivalentTo"} -xref: OMIM:604381 {source="ORDO:228190/e", source="Orphanet:228190", source="MONDO:equivalentTo"} +xref: OMIM:604381 {source="Orphanet:228190", source="MONDO:equivalentTo", source="Orphanet:228190/e"} xref: Orphanet:228190 {source="MONDO:equivalentTo", source="OMIM:604381"} xref: UMLS:C1858420 {source="Orphanet:228190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604381"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -225605,15 +225542,15 @@ synonym: "ataxia-telangiectasia-like disorder 1" RELATED [MONDO:Lexical, OMIM:60 synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1, OMIM:604391] synonym: "ATLD" EXACT ABBREVIATION [Orphanet:251347] synonym: "ATLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604391] -xref: ICD10CM:G11.3 {source="ORDO:251347/attributed", source="ORDO:251347/ntbt", source="Orphanet:251347"} +xref: ICD10CM:G11.3 {source="Orphanet:251347/attributed", source="Orphanet:251347/ntbt", source="Orphanet:251347"} xref: ICD9:334.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565779 {source="MONDO:equivalentTo"} xref: NCIT:C132224 {source="MONDO:superClassOf"} -xref: OMIM:604391 {source="MONDO:superClassOf", source="ORDO:251347/e", source="Orphanet:251347"} +xref: OMIM:604391 {source="Orphanet:251347/e", source="MONDO:superClassOf", source="Orphanet:251347"} xref: OMIMPS:604391 {source="MONDO:equivalentTo"} xref: Orphanet:251347 {source="MONDO:superClassOf", source="OMIM:604391"} xref: SCTID:700058006 {source="MONDO:equivalentTo"} -xref: UMLS:C1859598 {source="MONDO:superClassOf", source="ORDO:251347/e", source="Orphanet:251347"} +xref: UMLS:C1859598 {source="Orphanet:251347/e", source="MONDO:superClassOf", source="Orphanet:251347"} xref: UMLS:CN239583 {source="MONDO:equivalentTo"} is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/3193", source="https://orcid.org/0000-0001-6330-7526"} ! neurodegenerative disease is_a: MONDO:0016756 {source="Orphanet:251347"} ! inherited nervous system cancer-predisposing syndrome @@ -225677,7 +225614,7 @@ xref: MESH:C565776 {source="MONDO:equivalentTo"} xref: OMIM:604400 {source="MONDO:equivalentTo", source="DOID:0110074"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:604400"} xref: UMLS:C1858379 {source="OMIM:604400", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016342 {source="DOID:0110074", source="MESH:C565776", source="MONDO:Redundant", source="OMIM:604400", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110074", source="MESH:C565776", source="MONDO:Redundant", source="OMIM:604400", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28472 ! TMEM43 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28472 {source="mim2gene_medgen"} ! TMEM43 @@ -225699,7 +225636,7 @@ xref: MESH:C565775 {source="MONDO:equivalentTo"} xref: OMIM:604401 {source="MONDO:equivalentTo", source="DOID:0110075"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:604401"} xref: UMLS:C1858378 {source="OMIM:604401", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016342 {source="DOID:0110075", source="MESH:C565775", source="MONDO:Redundant", source="OMIM:604401", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110075", source="MESH:C565775", source="MONDO:Redundant", source="OMIM:604401", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia property_value: confidence "0.23456790123456783" xsd:double [Term] @@ -225739,9 +225676,9 @@ synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" RELA synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [OMIM:604416] xref: DOID:0080519 {source="MONDO:equivalentTo"} xref: GARD:0009176 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536253 {source="MONDO:equivalentTo", source="ORDO:69126/e", source="Orphanet:69126"} +xref: MESH:C536253 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"} xref: NCIT:C119055 {source="MONDO:equivalentTo"} -xref: OMIM:604416 {source="MONDO:equivalentTo", source="ORDO:69126/e", source="Orphanet:69126"} +xref: OMIM:604416 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"} xref: Orphanet:69126 {source="MONDO:equivalentTo", source="OMIM:604416"} xref: SCTID:724015007 {source="MONDO:equivalentTo"} xref: UMLS:C1858361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604416", source="Orphanet:69126"} @@ -225775,9 +225712,9 @@ synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical, OMIM:604432] synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432] xref: DOID:0050961 {source="MONDO:equivalentTo"} xref: GARD:0010475 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:98767", source="ORDO:98767/attributed", source="ORDO:98767/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:98767/attributed", source="Orphanet:98767/ntbt", source="Orphanet:98767"} xref: MESH:C565772 {source="MONDO:equivalentTo"} -xref: OMIM:604432 {source="ORDO:98767/e", source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo"} +xref: OMIM:604432 {source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo", source="Orphanet:98767/e"} xref: Orphanet:98767 {source="OMIM:604432", source="MONDO:equivalentTo"} xref: SCTID:719207000 {source="MONDO:equivalentTo"} xref: UMLS:C1858351 {source="OMIM:604432", source="Orphanet:98767", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -225815,12 +225752,12 @@ synonym: "WDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604454, Orphanet:603] synonym: "Welander distal myopathy" RELATED [MONDO:Lexical, OMIM:604454] synonym: "Welander distal myopathy, Swedish type" RELATED [GARD:0005552] xref: GARD:0005552 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:603", source="ORDO:603/attributed", source="ORDO:603/ntbt"} -xref: MESH:C536690 {source="ORDO:603/e", source="Orphanet:603"} -xref: OMIM:604454 {source="ORDO:603/e", source="Orphanet:603", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:603/attributed", source="Orphanet:603/ntbt", source="Orphanet:603"} +xref: MESH:C536690 {source="Orphanet:603", source="Orphanet:603/e"} +xref: OMIM:604454 {source="Orphanet:603", source="MONDO:equivalentTo", source="Orphanet:603/e"} xref: Orphanet:603 {source="OMIM:604454", source="MONDO:equivalentTo"} xref: UMLS:C0221054 {source="OMIM:604454", source="Orphanet:603", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931290 {source="ORDO:603/e", source="Orphanet:603", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931290 {source="Orphanet:603", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:603/e"} xref: UMLS:CN205368 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:603"} ! autosomal dominant distal myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11802 {source="mim2gene_medgen"} ! TIA1 @@ -225846,11 +225783,11 @@ synonym: "HMSNO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604484] synonym: "HMSNP" EXACT ABBREVIATION [Orphanet:90117] synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical, OMIM:604484] xref: GARD:0010131 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:90117/inclusion", source="ORDO:90117/ntbt", source="Orphanet:90117"} -xref: MESH:C535717 {source="MONDO:equivalentTo", source="ORDO:90117/e", source="Orphanet:90117"} -xref: OMIM:604484 {source="MONDO:equivalentTo", source="ORDO:90117/e", source="Orphanet:90117"} +xref: ICD10CM:G60.0 {source="Orphanet:90117/inclusion", source="Orphanet:90117/ntbt", source="Orphanet:90117"} +xref: MESH:C535717 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"} +xref: OMIM:604484 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"} xref: Orphanet:90117 {source="MONDO:equivalentTo", source="OMIM:604484"} -xref: UMLS:C1858338 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:90117/e", source="OMIM:604484", source="Orphanet:90117"} +xref: UMLS:C1858338 {source="Orphanet:90117/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604484", source="Orphanet:90117"} is_a: MONDO:0002316 {source="DC-OMIM:604484"} ! motor peripheral neuropathy is_a: MONDO:0015360 {source="Orphanet:90117"} ! autosomal dominant hereditary axonal motor and sensory neuropathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11758 {source="mim2gene_medgen"} ! TFG @@ -225871,13 +225808,13 @@ synonym: "thrombocytopenia, congenital amegakaryocytic" EXACT [OMIM:604498, OMIM xref: DOID:0090118 {source="MONDO:equivalentTo"} xref: GARD:0000640 {source="MONDO:equivalentTo"} xref: GARD:640 {source="DOID:0090118"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="ORDO:3319/attributed", source="ORDO:3319/ntbt", source="Orphanet:3319", source="DOID:0090118"} -xref: MESH:C535982 {source="MONDO:equivalentTo", source="ORDO:3319/e", source="Orphanet:3319", source="DOID:0090118"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:3319/attributed", source="Orphanet:3319/ntbt", source="Orphanet:3319", source="DOID:0090118"} +xref: MESH:C535982 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"} xref: NCIT:C115207 {source="MONDO:equivalentTo"} -xref: OMIM:604498 {source="MONDO:equivalentTo", source="ORDO:3319/e", source="Orphanet:3319", source="DOID:0090118"} +xref: OMIM:604498 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"} xref: Orphanet:3319 {source="OMIM:604498", source="MONDO:equivalentTo", source="DOID:0090118"} xref: SCTID:716336002 {source="MONDO:equivalentTo"} -xref: UMLS:C1327915 {source="OMIM:604498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:3319/e", source="Orphanet:3319", source="DOID:0090118", source="NCIT:C115207"} +xref: UMLS:C1327915 {source="OMIM:604498", source="Orphanet:3319/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118", source="NCIT:C115207"} is_a: MONDO:0001713 {source="Orphanet:3319"} ! inherited aplastic anemia is_a: MONDO:0018796 {source="Orphanet:3319"} ! isolated constitutional thrombocytopenia is_a: MONDO:0100241 {source="DOID:0090118", source="MESH:C535982", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited thrombocytopenia @@ -225927,12 +225864,12 @@ synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [OMIM:604536] synonym: "McGrath syndrome" EXACT [Orphanet:158668] synonym: "Mcgrath syndrome" RELATED [OMIM:604536] xref: GARD:0009705 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:158668/attributed", source="ORDO:158668/ntbt", source="Orphanet:158668"} -xref: MESH:C536183 {source="ORDO:158668/e", source="MONDO:equivalentTo", source="Orphanet:158668"} -xref: OMIM:604536 {source="ORDO:158668/e", source="MONDO:equivalentTo", source="Orphanet:158668"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158668", source="Orphanet:158668/attributed", source="Orphanet:158668/ntbt"} +xref: MESH:C536183 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} +xref: OMIM:604536 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} xref: Orphanet:158668 {source="OMIM:604536", source="MONDO:equivalentTo"} xref: SCTID:716699004 {source="MONDO:equivalentTo"} -xref: UMLS:C1858302 {source="OMIM:604536", source="ORDO:158668/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:158668"} +xref: UMLS:C1858302 {source="OMIM:604536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"} is_a: MONDO:0015550 {source="Orphanet:158668"} ! suprabasal epidermolysis bullosa simplex is_a: MONDO:0019287 {source="MESH:C536183", source="Orphanet:158668"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9023 {source="mim2gene_medgen"} ! PKP1 @@ -226012,12 +225949,12 @@ synonym: "CMT4B2" EXACT ABBREVIATION [DOID:0110190, MONDO:Lexical, OMIM:604563, synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110190 {source="MONDO:equivalentTo"} xref: GARD:0009200 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110190", source="Orphanet:99956", source="ORDO:99956/attributed", source="ORDO:99956/ntbt"} -xref: MESH:C535421 {source="ORDO:99956/e", source="MONDO:equivalentTo", source="Orphanet:99956"} -xref: OMIM:604563 {source="DOID:0110190", source="ORDO:99956/e", source="MONDO:equivalentTo", source="Orphanet:99956"} +xref: ICD10CM:G60.0 {source="DOID:0110190", source="Orphanet:99956", source="Orphanet:99956/attributed", source="Orphanet:99956/ntbt"} +xref: MESH:C535421 {source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} +xref: OMIM:604563 {source="DOID:0110190", source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} xref: Orphanet:99956 {source="DOID:0110190", source="MONDO:equivalentTo", source="OMIM:604563"} xref: SCTID:715800000 {source="MONDO:equivalentTo"} -xref: UMLS:C1858278 {source="ORDO:99956/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99956", source="OMIM:604563"} +xref: UMLS:C1858278 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e", source="OMIM:604563"} xref: UMLS:C1858279 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604563"} xref: UMLS:C1858280 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604563"} is_a: MONDO:0015626 {source="DOID:0110190/inferred", source="MESH:C535421", source="MONDO:Redundant", source="OMIM:604563", source="Orphanet:99956/inferred"} ! Charcot-Marie-Tooth disease @@ -226048,9 +225985,9 @@ synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [Orphan synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1, Orphanet:34592] xref: DOID:0060009 {source="MONDO:equivalentTo"} xref: GARD:0008427 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D81.6 {source="ORDO:34592/e", source="Orphanet:34592", source="ORDO:34592/specific"} +xref: ICD10CM:D81.6 {source="Orphanet:34592/specific", source="Orphanet:34592", source="Orphanet:34592/e"} xref: OMIM:241600 {source="MONDO:superClassOf", source="Orphanet:34592"} -xref: OMIM:604571 {source="MONDO:equivalentTo", source="ORDO:34592/e", source="Orphanet:34592", source="DOID:0060009"} +xref: OMIM:604571 {source="MONDO:equivalentTo", source="Orphanet:34592", source="DOID:0060009", source="Orphanet:34592/e"} xref: Orphanet:34592 {source="MONDO:equivalentTo", source="OMIM:604571"} xref: SCTID:725136003 {source="MONDO:equivalentTo"} xref: UMLS:C1858266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34592", source="OMIM:604571"} @@ -226110,8 +226047,8 @@ synonym: "Soldiers heart" RELATED [OMIM:604715] synonym: "soldiers heart" EXACT [DOID:0111154] xref: DOID:0111154 {source="MONDO:equivalentTo"} xref: EFO:1000645 {source="MONDO:equivalentTo"} -xref: ICD10CM:I95.1 {source="Orphanet:443236", source="ORDO:443236/attributed", source="ORDO:443236/ntbt", source="DOID:0111154"} -xref: OMIM:604715 {source="ORDO:443236/e", source="Orphanet:443236", source="MONDO:equivalentTo", source="EFO:1000645", source="DOID:0111154"} +xref: ICD10CM:I95.1 {source="Orphanet:443236/attributed", source="Orphanet:443236/ntbt", source="Orphanet:443236", source="DOID:0111154"} +xref: OMIM:604715 {source="Orphanet:443236", source="MONDO:equivalentTo", source="EFO:1000645", source="DOID:0111154", source="Orphanet:443236/e"} xref: Orphanet:443236 {source="MONDO:equivalentTo", source="DOID:0111154"} xref: SCTID:8074002 {source="MONDO:equivalentTo"} xref: UMLS:C0026267 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:604715"} @@ -226166,8 +226103,8 @@ synonym: "MSX2-related craniosynostosis" EXACT [https://github.com/mhughes5, htt synonym: "Warman Mulliken Hayward syndrome" RELATED [GARD:0005538] synonym: "Warman-Mulliken-Hayward syndrome" EXACT [Orphanet:1541] xref: GARD:0005538 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.8 {source="Orphanet:1541", source="ORDO:1541/attributed", source="ORDO:1541/ntbt"} -xref: OMIM:604757 {source="Orphanet:1541", source="ORDO:1541/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q75.8 {source="Orphanet:1541", source="Orphanet:1541/attributed", source="Orphanet:1541/ntbt"} +xref: OMIM:604757 {source="Orphanet:1541", source="MONDO:equivalentTo", source="Orphanet:1541/e"} xref: Orphanet:1541 {source="MONDO:equivalentTo", source="OMIM:604757"} xref: SCTID:720817008 {source="MONDO:equivalentTo"} xref: UMLS:C1858160 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604757"} @@ -226264,7 +226201,7 @@ xref: Orphanet:313 {source="MONDO:subClassOf", source="OMIM:604777"} xref: UMLS:C1858133 {source="OMIM:604777", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1858142 {source="GARD:0009734", source="NCBI:mim2gene_medline", source="OMIM:604777", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017265 {source="OMIM:604777"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0017778 {source="MESH:C537265", source="ORDO:313/btnt"} ! lamellar ichthyosis +is_a: MONDO:0017778 {source="MESH:C537265", source="Orphanet:313/btnt"} ! lamellar ichthyosis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 xsd:anyURI {source="GARD:0009734"} @@ -226279,9 +226216,9 @@ synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE: synonym: "MDC1B" EXACT ABBREVIATION [DOID:0110634, MONDO:Lexical, OMIM:604801, Orphanet:98893] synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical, OMIM:604801] xref: DOID:0110634 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="DOID:0110634", source="ORDO:98893/attributed", source="ORDO:98893/ntbt", source="Orphanet:98893"} +xref: ICD10CM:G71.2 {source="DOID:0110634", source="Orphanet:98893/attributed", source="Orphanet:98893/ntbt", source="Orphanet:98893"} xref: MESH:C565748 {source="MONDO:equivalentTo"} -xref: OMIM:604801 {source="DOID:0110634", source="MONDO:equivalentTo", source="ORDO:98893/e", source="Orphanet:98893"} +xref: OMIM:604801 {source="DOID:0110634", source="Orphanet:98893/e", source="MONDO:equivalentTo", source="Orphanet:98893"} xref: Orphanet:98893 {source="DOID:0110634", source="MONDO:equivalentTo", source="OMIM:604801"} xref: SCTID:764944006 {source="MONDO:equivalentTo"} xref: UMLS:C1858118 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604801", source="Orphanet:98893"} @@ -226299,9 +226236,9 @@ synonym: "HDL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604802, Orphanet:157946] synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802] synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [OMIM:604802] synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1, Orphanet:157946] -xref: ICD10CM:G10 {source="ORDO:157946/attributed", source="ORDO:157946/ntbt", source="Orphanet:157946"} +xref: ICD10CM:G10 {source="Orphanet:157946/attributed", source="Orphanet:157946/ntbt", source="Orphanet:157946"} xref: MESH:C565747 {source="MONDO:equivalentTo"} -xref: OMIM:604802 {source="MONDO:equivalentTo", source="ORDO:157946/e", source="Orphanet:157946"} +xref: OMIM:604802 {source="Orphanet:157946/e", source="MONDO:equivalentTo", source="Orphanet:157946"} xref: Orphanet:157946 {source="MONDO:equivalentTo", source="OMIM:604802"} xref: UMLS:C1858114 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604802", source="Orphanet:157946"} is_a: MONDO:0005395 ! movement disorder @@ -226344,12 +226281,12 @@ synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "SPG12" EXACT ABBREVIATION [DOID:0110765, MONDO:Lexical, OMIM:604805, Orphanet:100993] xref: DOID:0110765 {source="MONDO:equivalentTo"} xref: GARD:0009586 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="DOID:0110765", source="MONDO:subClassOf", source="Orphanet:100993", source="ORDO:100993/attributed", source="ORDO:100993/ntbt"} -xref: MESH:C537484 {source="ORDO:100993/e", source="Orphanet:100993", source="MONDO:equivalentTo"} -xref: OMIM:604805 {source="DOID:0110765", source="ORDO:100993/e", source="Orphanet:100993", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="DOID:0110765", source="MONDO:subClassOf", source="Orphanet:100993/attributed", source="Orphanet:100993/ntbt", source="Orphanet:100993"} +xref: MESH:C537484 {source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"} +xref: OMIM:604805 {source="DOID:0110765", source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"} xref: Orphanet:100993 {source="DOID:0110765", source="MONDO:equivalentTo", source="OMIM:604805"} xref: SCTID:763374004 {source="MONDO:equivalentTo"} -xref: UMLS:C1858106 {source="ORDO:100993/e", source="NCBI:mim2gene_medline", source="Orphanet:100993", source="MONDO:equivalentTo", source="OMIM:604805"} +xref: UMLS:C1858106 {source="NCBI:mim2gene_medline", source="Orphanet:100993", source="MONDO:equivalentTo", source="OMIM:604805", source="Orphanet:100993/e"} is_a: MONDO:0015088 {source="Orphanet:100993"} ! autosomal dominant pure spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110765", source="MESH:C537484", source="MONDO:Redundant", source="OMIM:604805", source="Orphanet:100993/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia @@ -226368,12 +226305,12 @@ synonym: "panbronchiolitis, diffuse" RELATED [OMIM:604809] synonym: "PBLT" RELATED ABBREVIATION [OMIM:604809] xref: GARD:0008526 {source="MONDO:equivalentTo"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062952 {source="ORDO:171700/e", source="Orphanet:171700"} -xref: MESH:C536174 {source="MONDO:equivalentTo", source="ORDO:171700/e", source="Orphanet:171700"} -xref: OMIM:604809 {source="MONDO:equivalentTo", source="ORDO:171700/e", source="Orphanet:171700"} +xref: MedDRA:10062952 {source="Orphanet:171700/e", source="Orphanet:171700"} +xref: MESH:C536174 {source="Orphanet:171700/e", source="MONDO:equivalentTo", source="Orphanet:171700"} +xref: OMIM:604809 {source="Orphanet:171700/e", source="MONDO:equivalentTo", source="Orphanet:171700"} xref: Orphanet:171700 {source="MONDO:equivalentTo", source="OMIM:604809"} xref: SCTID:430476004 {source="MONDO:equivalentTo"} -xref: UMLS:C0878555 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:171700/e", source="OMIM:604809", source="Orphanet:171700"} +xref: UMLS:C0878555 {source="NCBI:mim2gene_medline", source="Orphanet:171700/e", source="MONDO:equivalentTo", source="OMIM:604809", source="Orphanet:171700"} is_a: MONDO:0005002 {source="MONDO:cjm"} ! chronic obstructive pulmonary disease is_a: MONDO:0005087 {source="Orphanet:171700"} ! respiratory system disorder relationship: disease_has_location UBERON:0002188 ! respiratory bronchiole @@ -226423,13 +226360,13 @@ synonym: "Stickler syndrome, vitreous type 2" RELATED [OMIM:604841] synonym: "STL 2" RELATED [GARD:0005020] synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604841] xref: GARD:0005020 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:90654/attributed", source="ORDO:90654/ntbt", source="Orphanet:90654"} -xref: MESH:C537493 {source="MONDO:equivalentTo", source="ORDO:90654/e", source="Orphanet:90654"} +xref: ICD10CM:Q87.5 {source="Orphanet:90654/attributed", source="Orphanet:90654/ntbt", source="Orphanet:90654"} +xref: MESH:C537493 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} xref: NCIT:C74985 {source="MONDO:equivalentTo"} -xref: OMIM:604841 {source="MONDO:equivalentTo", source="ORDO:90654/e", source="Orphanet:90654"} +xref: OMIM:604841 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} xref: Orphanet:828 {source="MONDO:subClassOf", source="OMIM:604841"} xref: Orphanet:90654 {source="OMIM:604841", source="MONDO:equivalentTo"} -xref: UMLS:C1858084 {source="OMIM:604841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:90654/e", source="Orphanet:90654", source="NCIT:C74985"} +xref: UMLS:C1858084 {source="Orphanet:90654/e", source="OMIM:604841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90654", source="NCIT:C74985"} is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019354 {source="DC-OMIM:604841", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome intersection_of: MONDO:0019354 ! Stickler syndrome @@ -226463,10 +226400,10 @@ subset: ordo_disease {source="Orphanet:93279"} synonym: "Namaqualand hip dysplasia" RELATED [OMIM:604864] synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604864] synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864] -xref: ICD10CM:Q77.7 {source="Orphanet:93279", source="ORDO:93279/attributed", source="ORDO:93279/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:93279", source="Orphanet:93279/attributed", source="Orphanet:93279/ntbt"} xref: ICD9:755.63 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565740 {source="MONDO:equivalentTo"} -xref: OMIM:604864 {source="ORDO:93279/e", source="MONDO:equivalentTo", source="Orphanet:93279"} +xref: OMIM:604864 {source="MONDO:equivalentTo", source="Orphanet:93279", source="Orphanet:93279/e"} xref: Orphanet:93279 {source="OMIM:604864", source="MONDO:equivalentTo"} xref: SCTID:254064009 {source="MONDO:equivalentTo"} xref: UMLS:C1858079 {source="OMIM:604864", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} @@ -226482,9 +226419,9 @@ def: "Hereditary North American Indian childhood cirrhosis is a severe autosomal subset: ordo_clinical_subtype {source="Orphanet:168583"} synonym: "NAIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604901] synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMIM:604901] -xref: ICD10CM:K74.6 {source="ORDO:168583/attributed", source="ORDO:168583/ntbt", source="Orphanet:168583"} +xref: ICD10CM:K74.6 {source="Orphanet:168583/attributed", source="Orphanet:168583/ntbt", source="Orphanet:168583"} xref: MESH:C565737 {source="MONDO:equivalentTo"} -xref: OMIM:604901 {source="MONDO:equivalentTo", source="Orphanet:168583", source="ORDO:168583/e"} +xref: OMIM:604901 {source="Orphanet:168583/e", source="MONDO:equivalentTo", source="Orphanet:168583"} xref: Orphanet:168583 {source="MONDO:equivalentTo", source="OMIM:604901"} xref: SCTID:699189004 {source="MONDO:equivalentTo"} xref: UMLS:C1858051 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604901", source="Orphanet:168583"} @@ -226522,9 +226459,9 @@ synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED DEPRECATED [OMIM:604916] synonym: "Okamoto syndrome" EXACT [OMIM:604916] xref: GARD:0004064 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2729/attributed", source="ORDO:2729/ntbt", source="Orphanet:2729"} +xref: ICD10CM:Q87.8 {source="Orphanet:2729/attributed", source="Orphanet:2729/ntbt", source="Orphanet:2729"} xref: MESH:C565736 {source="MONDO:equivalentTo"} -xref: OMIM:604916 {source="MONDO:equivalentTo", source="ORDO:2729/e", source="Orphanet:2729"} +xref: OMIM:604916 {source="Orphanet:2729/e", source="MONDO:equivalentTo", source="Orphanet:2729"} xref: Orphanet:2729 {source="MONDO:equivalentTo", source="OMIM:604916"} xref: SCTID:722065002 {source="MONDO:equivalentTo"} xref: UMLS:C1858043 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604916"} @@ -226544,9 +226481,9 @@ synonym: "Becker nevus syndrome" EXACT [OMIM:604919] synonym: "hairy epidermal nevus syndrome" RELATED [GARD:0003856] synonym: "pigmentary hairy epidermal nevus" EXACT [Orphanet:64755] xref: GARD:0003856 {source="MONDO:equivalentTo"} -xref: ICD10CM:D22.5 {source="Orphanet:64755", source="ORDO:64755/attributed", source="ORDO:64755/ntbt"} +xref: ICD10CM:D22.5 {source="Orphanet:64755/attributed", source="Orphanet:64755/ntbt", source="Orphanet:64755"} xref: MESH:C565735 {source="MONDO:equivalentTo"} -xref: OMIM:604919 {source="ORDO:64755/e", source="Orphanet:64755", source="MONDO:equivalentTo"} +xref: OMIM:604919 {source="Orphanet:64755", source="MONDO:equivalentTo", source="Orphanet:64755/e"} xref: Orphanet:64755 {source="MONDO:equivalentTo", source="OMIM:604919"} xref: UMLS:C0263579 {source="Orphanet:64755", source="MONDO:superClassOf"} xref: UMLS:C1858042 {source="Orphanet:64755", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604919"} @@ -226569,9 +226506,9 @@ synonym: "cortical defects wormian bones and dentinogenesis imperfecta" RELATED synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [OMIM:604922] synonym: "Suarez-Stickler syndrome" EXACT [Orphanet:166277] xref: GARD:0010290 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:166277", source="ORDO:166277/attributed", source="ORDO:166277/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:166277", source="Orphanet:166277/attributed", source="Orphanet:166277/ntbt"} xref: MESH:C565734 {source="MONDO:equivalentTo"} -xref: OMIM:604922 {source="Orphanet:166277", source="ORDO:166277/e", source="MONDO:equivalentTo", source="GARD:0010290"} +xref: OMIM:604922 {source="Orphanet:166277", source="MONDO:equivalentTo", source="Orphanet:166277/e", source="GARD:0010290"} xref: Orphanet:166277 {source="MONDO:equivalentTo", source="OMIM:604922"} xref: UMLS:C1858032 {source="Orphanet:166277", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604922", source="GARD:0010290"} is_a: MONDO:0002081 {source="Orphanet:166277", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder @@ -226620,7 +226557,7 @@ xref: NCIT:C131849 {source="DOID:0090141", source="MONDO:equivalentTo"} xref: OMIM:604931 {source="DOID:0090141", source="MONDO:equivalentTo"} xref: Orphanet:168588 {source="MONDO:subClassOf", source="OMIM:604931"} xref: UMLS:C3551716 {source="NCBI:mim2gene_medline", source="OMIM:604931", source="MONDO:equivalentTo"} -is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="MONDO:Redundant", source="OMIM:604931", source="ORDO:168588/btnt"} ! cortisone reductase deficiency +is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="MONDO:Redundant", source="OMIM:604931", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency is_a: MONDO:0019052 {source="NCIT:C131849"} ! inborn errors of metabolism intersection_of: MONDO:0000193 ! cortisone reductase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4795 ! H6PD @@ -226637,9 +226574,9 @@ synonym: "hydranencephaly and microcephaly" RELATED [OMIM:605013] synonym: "MHAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605013, Orphanet:443162] synonym: "microhydranencephaly" RELATED [MONDO:Lexical, OMIM:605013] xref: GARD:0010216 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q04.8 {source="ORDO:443162/attributed", source="ORDO:443162/ntbt", source="Orphanet:443162"} +xref: ICD10CM:Q04.8 {source="Orphanet:443162/attributed", source="Orphanet:443162/ntbt", source="Orphanet:443162"} xref: MESH:C537555 {source="MONDO:equivalentTo"} -xref: OMIM:605013 {source="MONDO:equivalentTo", source="ORDO:443162/e", source="Orphanet:443162"} +xref: OMIM:605013 {source="Orphanet:443162/e", source="MONDO:equivalentTo", source="Orphanet:443162"} xref: Orphanet:1665 {source="MONDO:subClassOf", source="OMIM:605013"} xref: Orphanet:443162 {source="MONDO:equivalentTo"} xref: UMLS:C1857977 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605013"} @@ -226682,8 +226619,8 @@ synonym: "familial infantile myoclonus epilepsy" EXACT [Orphanet:352582] synonym: "FIME" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605021, Orphanet:352582] synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical, OMIM:605021] synonym: "myoclonic epilepsy, infantile, familial" EXACT [OMIM:605021, OMIM:genemap2] -xref: ICD10CM:G40.3 {source="Orphanet:352582", source="ORDO:352582/attributed", source="ORDO:352582/ntbt"} -xref: OMIM:605021 {source="Orphanet:352582", source="ORDO:352582/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.3 {source="Orphanet:352582", source="Orphanet:352582/attributed", source="Orphanet:352582/ntbt"} +xref: OMIM:605021 {source="Orphanet:352582", source="MONDO:equivalentTo", source="Orphanet:352582/e"} xref: Orphanet:352582 {source="MONDO:equivalentTo", source="OMIM:605021"} xref: UMLS:C0917800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605021"} is_a: MONDO:0015653 {source="Orphanet:352582"} ! monogenic epilepsy @@ -226716,7 +226653,7 @@ xref: OMIM:605027 {source="MONDO:equivalentTo"} xref: Orphanet:547 {source="MONDO:subClassOf", source="OMIM:605027"} xref: SCTID:118601006 {source="MONDO:equivalentTo"} xref: UMLS:C0024305 {source="MONDO:subClassOf", source="OMIM:605027", source="NCBI:mim2gene_medline"} -is_a: MONDO:0018908 {source="ORDO:547/btnt"} ! non-Hodgkin lymphoma +is_a: MONDO:0018908 {source="Orphanet:547/btnt"} ! non-Hodgkin lymphoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.8333333333333335" xsd:double @@ -226744,10 +226681,10 @@ synonym: "C-like syndrome" EXACT [OMIM:605039, Orphanet:97297] synonym: "Oberklaid-Danks syndrome" EXACT [Orphanet:97297] synonym: "Opitz trigonocephaly-like syndrome" EXACT [OMIM:605039, Orphanet:97297] xref: GARD:0010140 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:97297/attributed", source="ORDO:97297/ntbt", source="Orphanet:97297"} +xref: ICD10CM:Q87.8 {source="Orphanet:97297/attributed", source="Orphanet:97297/ntbt", source="Orphanet:97297"} xref: MESH:C537419 {source="MONDO:equivalentTo"} xref: NCIT:C131533 {source="MONDO:equivalentTo"} -xref: OMIM:605039 {source="MONDO:equivalentTo", source="ORDO:97297/e", source="Orphanet:97297"} +xref: OMIM:605039 {source="Orphanet:97297/e", source="MONDO:equivalentTo", source="Orphanet:97297"} xref: Orphanet:97297 {source="OMIM:605039", source="MONDO:equivalentTo"} xref: SCTID:720565000 {source="MONDO:equivalentTo"} xref: UMLS:C0796232 {source="OMIM:605039", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C131533", source="Orphanet:97297"} @@ -226783,14 +226720,14 @@ synonym: "Spiegler-Brooke syndrome" RELATED [OMIM:605041] xref: DOID:0050693 {source="MONDO:equivalentTo"} xref: GARD:0010179 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536611 {source="ORDO:79493/e", source="MONDO:superClassOf", source="Orphanet:79493"} -xref: OMIM:132700 {source="MONDO:superClassOf", source="ORDO:79493/btnt", source="Orphanet:79493"} -xref: OMIM:601606 {source="MONDO:superClassOf", source="ORDO:79493/btnt", source="Orphanet:79493"} -xref: OMIM:605041 {source="DOID:0050693", source="ORDO:79493/e", source="MONDO:equivalentTo", source="Orphanet:79493"} -xref: OMIM:612099 {source="MONDO:superClassOf", source="ORDO:79493/btnt", source="Orphanet:79493"} +xref: MESH:C536611 {source="MONDO:superClassOf", source="Orphanet:79493", source="Orphanet:79493/e"} +xref: OMIM:132700 {source="MONDO:superClassOf", source="Orphanet:79493", source="Orphanet:79493/btnt"} +xref: OMIM:601606 {source="MONDO:superClassOf", source="Orphanet:79493", source="Orphanet:79493/btnt"} +xref: OMIM:605041 {source="DOID:0050693", source="MONDO:equivalentTo", source="Orphanet:79493", source="Orphanet:79493/e"} +xref: OMIM:612099 {source="MONDO:superClassOf", source="Orphanet:79493", source="Orphanet:79493/btnt"} xref: Orphanet:79493 {source="MONDO:equivalentTo", source="OMIM:605041"} xref: SCTID:703531009 {source="MONDO:equivalentTo"} -xref: UMLS:C1857941 {source="ORDO:79493/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605041", source="Orphanet:79493"} +xref: UMLS:C1857941 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605041", source="Orphanet:79493", source="Orphanet:79493/e"} is_a: MONDO:0000426 {source="DOID:0050693", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015950 {source="Orphanet:79493", source="indirect"} ! inherited skin tumor is_a: MONDO:0020180 {source="Orphanet:79493"} ! palpebral piliary tumor @@ -226807,7 +226744,7 @@ xref: MESH:C565728 {source="MONDO:equivalentTo"} xref: OMIM:605055 {source="MONDO:equivalentTo"} xref: Orphanet:1020 {source="MONDO:subClassOf", source="OMIM:605055"} xref: UMLS:C1857933 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605055"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql property_value: confidence "1.7975949917804632" xsd:double @@ -226824,14 +226761,14 @@ synonym: "tricuspid valve atresia" EXACT [NCIT:C85202] xref: DOID:0080169 {source="MONDO:equivalentTo"} xref: GARD:0005274 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0011662 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q22.4 {source="ORDO:1209/ntbt", source="MONDO:directSiblingOf", source="Orphanet:1209"} -xref: MedDRA:10049767 {source="ORDO:1209/e", source="Orphanet:1209"} -xref: MESH:D018785 {source="MONDO:equivalentTo", source="ORDO:1209/e", source="Orphanet:1209"} +xref: ICD10CM:Q22.4 {source="Orphanet:1209/ntbt", source="MONDO:directSiblingOf", source="Orphanet:1209"} +xref: MedDRA:10049767 {source="Orphanet:1209/e", source="Orphanet:1209"} +xref: MESH:D018785 {source="Orphanet:1209/e", source="MONDO:equivalentTo", source="Orphanet:1209"} xref: NCIT:C85202 {source="MONDO:equivalentTo"} -xref: OMIM:605067 {source="DOID:0080169", source="MONDO:equivalentTo", source="ORDO:1209/e", source="Orphanet:1209"} +xref: OMIM:605067 {source="Orphanet:1209/e", source="DOID:0080169", source="MONDO:equivalentTo", source="Orphanet:1209"} xref: Orphanet:1209 {source="MONDO:equivalentTo", source="OMIM:605067"} xref: SCTID:63042009 {source="MONDO:equivalentTo"} -xref: UMLS:C0243002 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1209/e", source="NCIT:C85202", source="OMIM:605067", source="Orphanet:1209"} +xref: UMLS:C0243002 {source="Orphanet:1209/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C85202", source="OMIM:605067", source="Orphanet:1209"} is_a: MONDO:0000471 {source="DOID:0080169", source="NCIT:C85202", source="indirect", source="linkedlifedata/inferred"} ! tricuspid valve disorder is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0005453 {source="MESH:D018785", source="NCIT:C85202", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease @@ -226864,9 +226801,9 @@ synonym: "hypertension due to gain-of-function mutations in the mineralocorticoi synonym: "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" EXACT [OMIM:605115, OMIM:genemap2] synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [OMIM:605115] synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115] -xref: ICD10CM:I15.1 {source="ORDO:88660/attributed", source="ORDO:88660/ntbt", source="Orphanet:88660"} +xref: ICD10CM:I15.1 {source="Orphanet:88660/attributed", source="Orphanet:88660/ntbt", source="Orphanet:88660"} xref: MESH:C565359 {source="MONDO:equivalentTo"} -xref: OMIM:605115 {source="MONDO:equivalentTo", source="ORDO:88660/e", source="Orphanet:88660"} +xref: OMIM:605115 {source="Orphanet:88660/e", source="MONDO:equivalentTo", source="Orphanet:88660"} xref: Orphanet:88660 {source="OMIM:605115", source="MONDO:equivalentTo"} xref: SCTID:766937004 {source="MONDO:equivalentTo"} xref: UMLS:C1854631 {source="OMIM:605115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88660"} @@ -226890,9 +226827,9 @@ synonym: "WDSTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605130] synonym: "Wiedemann Grosse Dibbern syndrome" RELATED [GARD:0005565] synonym: "Wiedemann-Steiner syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:605130] xref: GARD:0005565 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:319182", source="ORDO:319182/attributed", source="ORDO:319182/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:319182/attributed", source="Orphanet:319182/ntbt", source="Orphanet:319182"} xref: MESH:C536704 {source="MONDO:equivalentTo"} -xref: OMIM:605130 {source="ORDO:319182/e", source="Orphanet:319182", source="MONDO:equivalentTo"} +xref: OMIM:605130 {source="Orphanet:319182", source="MONDO:equivalentTo", source="Orphanet:319182/e"} xref: Orphanet:319182 {source="MONDO:equivalentTo", source="OMIM:605130"} xref: UMLS:C1854630 {source="Orphanet:319182", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:605130"} xref: UMLS:C2931294 {source="GARD:0005565", source="MONDO:notFoundInDiseaseSubset"} @@ -226911,8 +226848,7 @@ synonym: "autosomal dominant deafness 23" NARROW [DOID:0110553] synonym: "autosomal dominant nonsyndromic deafness 23" NARROW [OMIM:605192] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SIX1" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 23" NARROW [DOID:0110553, MONDORULE:2] -synonym: "deafness, autosomal dominant 23" NARROW [MONDO:Lexical, OMIM:605192] -synonym: "deafness, autosomal dominant 23" NARROW [OMIM:605192, OMIM:genemap2] +synonym: "deafness, autosomal dominant 23" NARROW [MONDO:Lexical, OMIM:605192, OMIM:genemap2] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" NARROW [GARD:0001708] synonym: "deafness, autosomal dominant type 23" NARROW [MONDORULE:2, OMIM:605192] synonym: "DFNA 23" NARROW [GARD:0001708] @@ -226973,11 +226909,11 @@ synonym: "spastic paraplegia 14, autosomal recessive" EXACT [MONDO:Lexical, OMIM synonym: "SPG14" EXACT ABBREVIATION [DOID:0110767, MONDO:Lexical, OMIM:605229, Orphanet:100995] xref: DOID:0110767 {source="MONDO:equivalentTo"} xref: GARD:0009589 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110767", source="ORDO:100995/attributed", source="ORDO:100995/ntbt", source="Orphanet:100995"} -xref: MESH:C537486 {source="ORDO:100995/e", source="MONDO:equivalentTo", source="Orphanet:100995"} -xref: OMIM:605229 {source="DOID:0110767", source="ORDO:100995/e", source="MONDO:equivalentTo", source="Orphanet:100995"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110767", source="Orphanet:100995", source="Orphanet:100995/attributed", source="Orphanet:100995/ntbt"} +xref: MESH:C537486 {source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} +xref: OMIM:605229 {source="DOID:0110767", source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} xref: Orphanet:100995 {source="DOID:0110767", source="OMIM:605229", source="MONDO:equivalentTo"} -xref: UMLS:C1854568 {source="OMIM:605229", source="ORDO:100995/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100995"} +xref: UMLS:C1854568 {source="OMIM:605229", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"} is_a: MONDO:0017915 {source="Orphanet:100995"} ! pure or complex autosomal recessive spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110767", source="MESH:C537486", source="MONDO:Redundant", source="OMIM:605229", source="Orphanet:100995/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double @@ -227013,13 +226949,13 @@ synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233] synonym: "Dianzani autoimmune lymphoproliferative syndrome" EXACT [GARD:0009797] synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [GARD:0009797] xref: GARD:0009797 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D47.9 {source="ORDO:275523/attributed", source="ORDO:275523/ntbt", source="Orphanet:275523"} +xref: ICD10CM:D47.9 {source="Orphanet:275523", source="Orphanet:275523/attributed", source="Orphanet:275523/ntbt"} xref: MESH:C535950 {source="MONDO:equivalentTo"} -xref: OMIM:605233 {source="MONDO:equivalentTo", source="ORDO:275523/e", source="Orphanet:275523"} +xref: OMIM:605233 {source="MONDO:equivalentTo", source="Orphanet:275523", source="Orphanet:275523/e"} xref: Orphanet:275523 {source="MONDO:equivalentTo", source="OMIM:605233"} xref: SCTID:721093000 {source="MONDO:equivalentTo"} xref: UMLS:C1854565 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931071 {source="MONDO:equivalentTo", source="ORDO:275523/e", source="Orphanet:275523", source="OMIM:605233"} +xref: UMLS:C2931071 {source="MONDO:equivalentTo", source="Orphanet:275523", source="OMIM:605233", source="Orphanet:275523/e"} is_a: MONDO:0016537 {source="MESH:C535950/inferred", source="Orphanet:275523"} ! lymphoproliferative syndrome property_value: confidence "4.277777777777778" xsd:double @@ -227075,9 +227011,9 @@ synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [O xref: DOID:0110195 {source="MONDO:equivalentTo"} xref: GARD:0006170 {source="MONDO:equivalentTo"} xref: GARD:0009203 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99951", source="DOID:0110195", source="ORDO:99951/attributed", source="ORDO:99951/ntbt"} -xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="ORDO:99951/e"} -xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="DOID:0110195", source="ORDO:99951/e"} +xref: ICD10CM:G60.0 {source="Orphanet:99951", source="Orphanet:99951/attributed", source="Orphanet:99951/ntbt", source="DOID:0110195"} +xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="Orphanet:99951/e"} +xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="Orphanet:99951/e", source="DOID:0110195"} xref: Orphanet:99951 {source="GARD:0006170", source="MONDO:equivalentTo", source="DOID:0110195", source="OMIM:605253"} xref: SCTID:763135001 {source="MONDO:equivalentTo"} xref: UMLS:C0393818 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:605253"} @@ -227108,9 +227044,9 @@ synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758] synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical, OMIM:605258] xref: DOID:0060758 {source="MONDO:equivalentTo"} xref: GARD:0010578 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.5 {source="Orphanet:101089", source="DOID:0060758", source="ORDO:101089/attributed", source="ORDO:101089/ntbt"} +xref: ICD10CM:D80.5 {source="Orphanet:101089", source="Orphanet:101089/attributed", source="Orphanet:101089/ntbt", source="DOID:0060758"} xref: NCIT:C129074 {source="MONDO:equivalentTo"} -xref: OMIM:605258 {source="Orphanet:101089", source="ORDO:101089/e", source="MONDO:equivalentTo", source="DOID:0060758"} +xref: OMIM:605258 {source="Orphanet:101089", source="MONDO:equivalentTo", source="Orphanet:101089/e", source="DOID:0060758"} xref: Orphanet:101089 {source="OMIM:605258", source="MONDO:equivalentTo", source="DOID:0060758"} xref: Orphanet:183666 {source="MONDO:subClassOf", source="OMIM:605258", source="DOID:0060758"} xref: SCTID:403836001 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -227137,12 +227073,12 @@ synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical, OMIM:605259] synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259] xref: DOID:0050963 {source="MONDO:equivalentTo"} xref: GARD:0009611 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:98768", source="ORDO:98768/attributed", source="ORDO:98768/ntbt"} -xref: MESH:C537195 {source="ORDO:98768/e", source="MONDO:equivalentTo", source="Orphanet:98768"} -xref: OMIM:605259 {source="ORDO:98768/e", source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768"} +xref: ICD10CM:G11.2 {source="Orphanet:98768", source="Orphanet:98768/attributed", source="Orphanet:98768/ntbt"} +xref: MESH:C537195 {source="MONDO:equivalentTo", source="Orphanet:98768", source="Orphanet:98768/e"} +xref: OMIM:605259 {source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768", source="Orphanet:98768/e"} xref: Orphanet:98768 {source="OMIM:605259", source="MONDO:equivalentTo"} xref: SCTID:719209002 {source="MONDO:equivalentTo"} -xref: UMLS:C1854488 {source="ORDO:98768/e", source="OMIM:605259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98768"} +xref: UMLS:C1854488 {source="OMIM:605259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98768", source="Orphanet:98768/e"} xref: UMLS:C4304884 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98768"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6235 {source="mim2gene_medgen"} ! KCNC3 @@ -227160,9 +227096,9 @@ synonym: "mesomelic dysplasia, Savarirayan type" EXACT [OMIM:605274] synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584] synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170] xref: GARD:0010584 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:85170/attributed", source="ORDO:85170/ntbt", source="Orphanet:85170"} +xref: ICD10CM:Q78.8 {source="Orphanet:85170", source="Orphanet:85170/attributed", source="Orphanet:85170/ntbt"} xref: MESH:C565349 {source="MONDO:equivalentTo"} -xref: OMIM:605274 {source="MONDO:equivalentTo", source="ORDO:85170/e", source="Orphanet:85170"} +xref: OMIM:605274 {source="MONDO:equivalentTo", source="Orphanet:85170", source="Orphanet:85170/e"} xref: Orphanet:85170 {source="MONDO:equivalentTo", source="OMIM:605274"} xref: SCTID:715652002 {source="MONDO:equivalentTo"} xref: UMLS:C1854470 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85170", source="OMIM:605274"} @@ -227205,11 +227141,11 @@ synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "SPG13" EXACT ABBREVIATION [DOID:0110766, MONDO:Lexical, OMIM:605280, Orphanet:100994] xref: DOID:0110766 {source="MONDO:equivalentTo"} xref: GARD:0009616 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110766", source="Orphanet:100994", source="ORDO:100994/attributed", source="ORDO:100994/ntbt"} -xref: MESH:C537485 {source="Orphanet:100994", source="ORDO:100994/e", source="MONDO:equivalentTo"} -xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="ORDO:100994/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100994/attributed", source="Orphanet:100994/ntbt", source="DOID:0110766", source="Orphanet:100994"} +xref: MESH:C537485 {source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"} +xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"} xref: Orphanet:100994 {source="DOID:0110766", source="MONDO:equivalentTo", source="OMIM:605280"} -xref: UMLS:C1854467 {source="Orphanet:100994", source="NCBI:mim2gene_medline", source="ORDO:100994/e", source="MONDO:equivalentTo", source="OMIM:605280"} +xref: UMLS:C1854467 {source="Orphanet:100994", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605280", source="Orphanet:100994/e"} is_a: MONDO:0017914 {source="Orphanet:100994"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110766", source="MESH:C537485", source="MONDO:Redundant", source="OMIM:605280", source="Orphanet:100994/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia @@ -227232,9 +227168,9 @@ synonym: "temtamy preaxial brachydactyly syndrome" EXACT CLINGEN_PREFERRED [MOND synonym: "TPBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605282] xref: DOID:0050814 {source="MONDO:equivalentTo"} xref: GARD:0009679 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:363417/attributed", source="ORDO:363417/ntbt", source="Orphanet:363417"} +xref: ICD10CM:Q87.2 {source="Orphanet:363417/attributed", source="Orphanet:363417/ntbt", source="Orphanet:363417"} xref: MESH:C536958 {source="MONDO:equivalentTo"} -xref: OMIM:605282 {source="MONDO:equivalentTo", source="DOID:0050814", source="ORDO:363417/e", source="Orphanet:363417"} +xref: OMIM:605282 {source="Orphanet:363417/e", source="MONDO:equivalentTo", source="DOID:0050814", source="Orphanet:363417"} xref: Orphanet:363417 {source="MONDO:equivalentTo", source="OMIM:605282"} xref: UMLS:C1854466 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605282", source="Orphanet:363417"} is_a: MONDO:0006025 {source="DOID:0050814", source="MONDO:Redundant"} ! autosomal recessive disease @@ -227271,9 +227207,9 @@ synonym: "HMSNR" EXACT ABBREVIATION [DOID:0110196, MONDO:Lexical, OMIM:605285, O synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285] xref: DOID:0110196 {source="MONDO:equivalentTo"} xref: GARD:0010132 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:99953", source="DOID:0110196", source="ORDO:99953/attributed", source="ORDO:99953/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:99953", source="Orphanet:99953/attributed", source="Orphanet:99953/ntbt", source="DOID:0110196"} xref: MESH:C535813 {source="MONDO:equivalentTo"} -xref: OMIM:605285 {source="ORDO:99953/e", source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196"} +xref: OMIM:605285 {source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196", source="Orphanet:99953/e"} xref: Orphanet:99953 {source="MONDO:equivalentTo", source="DOID:0110196", source="OMIM:605285"} xref: SCTID:715799004 {source="MONDO:equivalentTo"} xref: UMLS:C1854449 {source="Orphanet:99953", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605285"} @@ -227330,7 +227266,7 @@ synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060 synonym: "macrocephaly/autism syndrome" RELATED [OMIM:605309] xref: DOID:0060867 {source="MONDO:equivalentTo"} xref: MESH:C565342 {source="MONDO:equivalentTo"} -xref: OMIM:605309 {source="MONDO:equivalentTo", source="ORDO:210548/e", source="DOID:0060867", source="Orphanet:210548"} +xref: OMIM:605309 {source="Orphanet:210548/e", source="MONDO:equivalentTo", source="DOID:0060867", source="Orphanet:210548"} xref: Orphanet:210548 {source="MONDO:equivalentTo", source="OMIM:605309", source="DOID:0060867"} xref: UMLS:C1854416 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605309", source="Orphanet:210548"} is_a: MONDO:0000426 {source="DOID:0060867", source="MONDO:Redundant"} ! autosomal dominant disease @@ -227367,9 +227303,9 @@ synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110936 {source="MONDO:equivalentTo"} xref: GARD:0008334 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:98902/attributed", source="ORDO:98902/ntbt", source="Orphanet:98902"} +xref: ICD10CM:G71.2 {source="Orphanet:98902", source="Orphanet:98902/attributed", source="Orphanet:98902/ntbt"} xref: MESH:C538397 {source="MONDO:equivalentTo"} -xref: OMIM:605355 {source="ORDO:98902/e", source="DOID:0110936", source="MONDO:equivalentTo", source="Orphanet:98902"} +xref: OMIM:605355 {source="DOID:0110936", source="MONDO:equivalentTo", source="Orphanet:98902", source="Orphanet:98902/e"} xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:605355"} xref: Orphanet:98902 {source="MONDO:equivalentTo"} xref: UMLS:C1854380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605355"} @@ -227391,12 +227327,12 @@ synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical, OMIM:605361] synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361] xref: DOID:0050964 {source="MONDO:equivalentTo"} xref: GARD:0009867 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:98763", source="ORDO:98763/attributed", source="ORDO:98763/ntbt"} -xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="ORDO:98763/e"} -xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="ORDO:98763/e"} +xref: ICD10CM:G11.2 {source="Orphanet:98763", source="Orphanet:98763/attributed", source="Orphanet:98763/ntbt"} +xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="Orphanet:98763/e"} +xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="Orphanet:98763/e"} xref: Orphanet:98763 {source="MONDO:equivalentTo", source="OMIM:605361"} xref: SCTID:719210007 {source="MONDO:equivalentTo"} -xref: UMLS:C1854369 {source="Orphanet:98763", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605361", source="ORDO:98763/e"} +xref: UMLS:C1854369 {source="Orphanet:98763", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98763/e", source="OMIM:605361"} xref: UMLS:C4304883 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98763"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9402 {source="mim2gene_medgen"} ! PRKCG @@ -227422,7 +227358,7 @@ synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:011044 synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] xref: DOID:0110440 {source="MONDO:equivalentTo"} xref: MESH:C565337 {source="MONDO:equivalentTo"} -xref: OMIM:605362 {source="Orphanet:217622", source="MONDO:equivalentTo", source="DOID:0110440", source="ORDO:217622/e"} +xref: OMIM:605362 {source="Orphanet:217622", source="MONDO:equivalentTo", source="Orphanet:217622/e", source="DOID:0110440"} xref: Orphanet:217622 {source="MONDO:equivalentTo", source="DOID:0110440", source="OMIM:605362"} xref: UMLS:C1854368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605362"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:605362", source="Orphanet:217622/inferred"} ! familial dilated cardiomyopathy @@ -227479,7 +227415,7 @@ xref: OMIM:605373 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="MONDO:subClassOf", source="OMIM:605373"} xref: UMLS:C1854336 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605373"} is_a: MONDO:0000448 {source="DC-OMIM:605373", source="MONDO:Redundant", source="OMIM:605373"} ! paraganglioma -is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10682 ! SDHC relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10682 {source="mim2gene_medgen"} ! SDHC @@ -227548,7 +227484,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:605387"} xref: Orphanet:98993 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:605387"} xref: UMLS:C1854311 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:605387"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110265", source="MESH:C535343", source="MONDO:Redundant", source="OMIM:605387", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16171 ! CHMP4B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16171 {source="mim2gene_medgen"} ! CHMP4B @@ -227622,8 +227558,8 @@ synonym: "Segawa syndrome, autosomal recessive" RELATED [OMIM:605407] synonym: "Segawa syndrome, recessive" EXACT [OMIM:605407, OMIM:genemap2] synonym: "tyrosine hydroxylase-deficient dopa-responsive dystonia" EXACT [Orphanet:101150] xref: GARD:0001902 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="ORDO:101150/attributed", source="ORDO:101150/ntbt", source="Orphanet:101150"} -xref: OMIM:605407 {source="MONDO:equivalentTo", source="ORDO:101150/e", source="Orphanet:101150"} +xref: ICD10CM:G24.1 {source="Orphanet:101150/attributed", source="Orphanet:101150/ntbt", source="Orphanet:101150"} +xref: OMIM:605407 {source="Orphanet:101150/e", source="MONDO:equivalentTo", source="Orphanet:101150"} xref: Orphanet:101150 {source="MONDO:equivalentTo", source="OMIM:605407"} xref: SCTID:715827001 {source="MONDO:equivalentTo"} xref: UMLS:C1854299 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -227662,8 +227598,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 26" NARROW [DOID:0110484] synonym: "autosomal recessive nonsyndromic deafness 26" NARROW [OMIM:605428] synonym: "autosomal recessive nonsyndromic deafness type 26" NARROW [DOID:0110484, MONDORULE:2] -synonym: "deafness, autosomal recessive 26" NARROW [MONDO:Lexical, OMIM:605428] -synonym: "deafness, autosomal recessive 26" NARROW [OMIM:605428, OMIM:genemap2] +synonym: "deafness, autosomal recessive 26" NARROW [MONDO:Lexical, OMIM:605428, OMIM:genemap2] synonym: "DFNB26" NARROW ABBREVIATION [DOID:0110484, MONDO:Lexical, OMIM:605428] xref: DOID:0110484 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110484"} @@ -227700,10 +227635,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:71289"} synonym: "ATRUS syndrome" EXACT [Orphanet:71289] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical, OMIM:605432] synonym: "RUSAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605432] -xref: ICD10CM:Q87.2 {source="Orphanet:71289", source="ORDO:71289/attributed", source="ORDO:71289/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:71289/attributed", source="Orphanet:71289/ntbt", source="Orphanet:71289"} xref: MESH:C565328 {source="MONDO:equivalentTo"} -xref: OMIM:605432 {source="ORDO:71289/e", source="Orphanet:71289", source="MONDO:superClassOf"} -xref: OMIM:616738 {source="Orphanet:71289", source="MONDO:superClassOf", source="ORDO:71289/btnt"} +xref: OMIM:605432 {source="Orphanet:71289", source="MONDO:superClassOf", source="Orphanet:71289/e"} +xref: OMIM:616738 {source="Orphanet:71289/btnt", source="Orphanet:71289", source="MONDO:superClassOf"} xref: OMIMPS:605432 {source="MONDO:equivalentTo"} xref: Orphanet:71289 {source="MONDO:equivalentTo", source="OMIM:605432"} xref: SCTID:721882001 {source="MONDO:equivalentTo"} @@ -227794,13 +227729,13 @@ synonym: "recurrent familial intrahepatic cholestasis 2" RELATED [GARD:0010029] xref: DOID:0070232 {source="MONDO:equivalentTo"} xref: GARD:0010029 {source="MONDO:equivalentTo"} xref: GARD:10029 {source="DOID:0070232"} -xref: ICD10CM:K83.1 {source="Orphanet:99961", source="ORDO:99961/attributed", source="ORDO:99961/ntbt"} -xref: MESH:C535931 {source="Orphanet:99961", source="ORDO:99961/e"} +xref: ICD10CM:K83.1 {source="Orphanet:99961", source="Orphanet:99961/attributed", source="Orphanet:99961/ntbt"} +xref: MESH:C535931 {source="Orphanet:99961", source="Orphanet:99961/e"} xref: MESH:C535934 {source="MONDO:equivalentTo"} -xref: OMIM:605479 {source="Orphanet:99961", source="DOID:0070232", source="MONDO:equivalentTo", source="GARD:0010029", source="ORDO:99961/e"} +xref: OMIM:605479 {source="Orphanet:99961", source="DOID:0070232", source="MONDO:equivalentTo", source="Orphanet:99961/e", source="GARD:0010029"} xref: Orphanet:65682 {source="MONDO:subClassOf", source="OMIM:605479"} xref: Orphanet:99961 {source="DOID:0070232", source="OMIM:605479", source="MONDO:equivalentTo"} -xref: UMLS:C2608083 {source="Orphanet:99961", source="DOID:0070232", source="OMIM:605479", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0010029", source="ORDO:99961/e"} +xref: UMLS:C2608083 {source="Orphanet:99961", source="DOID:0070232", source="OMIM:605479", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99961/e", source="GARD:0010029"} xref: UMLS:C3489789 {source="Orphanet:99961", source="DOID:0070232", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003847 {source="DOID:0070232"} ! Mendelian disease is_a: MONDO:0019008 {source="DOID:0070232", source="OMIM:605479", source="Orphanet:99961"} ! benign recurrent intrahepatic cholestasis @@ -227838,7 +227773,7 @@ xref: MESH:C565325 {source="MONDO:equivalentTo"} xref: OMIM:605526 {source="DOID:0110038", source="MONDO:equivalentTo"} xref: UMLS:C1854187 {source="OMIM:605526", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2676409 {source="OMIM:605526", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql property_value: confidence "1.7975949917804632" xsd:double @@ -227966,8 +227901,7 @@ synonym: "autosomal dominant deafness 25" NARROW [DOID:0110555] synonym: "autosomal dominant nonsyndromic deafness 25" NARROW [OMIM:605583] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 25" NARROW [DOID:0110555, MONDORULE:2] -synonym: "deafness, autosomal dominant 25" NARROW [MONDO:Lexical, OMIM:605583] -synonym: "deafness, autosomal dominant 25" NARROW [OMIM:605583, OMIM:genemap2] +synonym: "deafness, autosomal dominant 25" NARROW [MONDO:Lexical, OMIM:605583, OMIM:genemap2] synonym: "deafness, autosomal dominant type 25" NARROW [MONDORULE:2, OMIM:605583] synonym: "DFNA25" NARROW ABBREVIATION [DOID:0110555, MONDO:Lexical, OMIM:605583] synonym: "SLC17A8 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -228009,12 +227943,12 @@ synonym: "CMT2B1" EXACT ABBREVIATION [DOID:0110156, MONDO:Lexical, OMIM:605588] synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110156 {source="MONDO:equivalentTo"} xref: GARD:0008548 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:98856", source="ORDO:98856/attributed", source="ORDO:98856/ntbt", source="DOID:0110156"} -xref: MESH:C537990 {source="ORDO:98856/e", source="MONDO:equivalentTo", source="Orphanet:98856"} -xref: OMIM:605588 {source="ORDO:98856/e", source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156"} +xref: ICD10CM:G60.0 {source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/attributed", source="Orphanet:98856/ntbt"} +xref: MESH:C537990 {source="MONDO:equivalentTo", source="Orphanet:98856", source="Orphanet:98856/e"} +xref: OMIM:605588 {source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/e"} xref: Orphanet:98856 {source="OMIM:605588", source="MONDO:equivalentTo", source="DOID:0110156"} xref: SCTID:725048002 {source="MONDO:equivalentTo"} -xref: UMLS:C1854154 {source="OMIM:605588", source="ORDO:98856/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98856"} +xref: UMLS:C1854154 {source="OMIM:605588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98856", source="Orphanet:98856/e"} is_a: MONDO:0015626 {source="DOID:0110156/inferred", source="MESH:C537990", source="MONDO:Redundant", source="OMIM:605588", source="Orphanet:98856/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110156", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2 is_a: MONDO:0019601 {source="Orphanet:98856"} ! autosomal recessive axonal hereditary motor and sensory neuropathy @@ -228053,12 +227987,12 @@ synonym: "CMT2B2" EXACT ABBREVIATION [DOID:0110179, MONDO:Lexical, OMIM:605589] synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110179 {source="MONDO:equivalentTo"} xref: GARD:0001249 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:101101", source="ORDO:101101/attributed", source="ORDO:101101/ntbt", source="DOID:0110179"} -xref: MESH:C537991 {source="ORDO:101101/e", source="Orphanet:101101", source="MONDO:equivalentTo"} -xref: OMIM:605589 {source="ORDO:101101/e", source="Orphanet:101101", source="MONDO:equivalentTo", source="DOID:0110179"} +xref: ICD10CM:G60.0 {source="Orphanet:101101/attributed", source="Orphanet:101101/ntbt", source="Orphanet:101101", source="DOID:0110179"} +xref: MESH:C537991 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e"} +xref: OMIM:605589 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e", source="DOID:0110179"} xref: Orphanet:101101 {source="OMIM:605589", source="MONDO:equivalentTo", source="DOID:0110179"} xref: SCTID:719981005 {source="MONDO:equivalentTo"} -xref: UMLS:C1854150 {source="ORDO:101101/e", source="OMIM:605589", source="Orphanet:101101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1854150 {source="OMIM:605589", source="Orphanet:101101", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101101/e"} is_a: MONDO:0015626 {source="DOID:0110179/inferred", source="MESH:C537991", source="MONDO:Redundant", source="OMIM:605589", source="Orphanet:101101/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110179", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2 is_a: MONDO:0019601 {source="Orphanet:101101"} ! autosomal recessive axonal hereditary motor and sensory neuropathy @@ -228082,7 +228016,7 @@ xref: MESH:C565316 {source="MONDO:equivalentTo"} xref: OMIM:605594 {source="MONDO:equivalentTo"} xref: Orphanet:166260 {source="MONDO:subClassOf", source="OMIM:605594"} xref: UMLS:C1854146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605594"} -is_a: MONDO:0007441 {source="ORDO:166260/btnt"} ! dentinogenesis imperfecta type 2 +is_a: MONDO:0007441 {source="Orphanet:166260/btnt"} ! dentinogenesis imperfecta type 2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3054 {source="mim2gene_medgen"} ! DSPP relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "3.3333333333333313" xsd:double @@ -228134,9 +228068,9 @@ subset: gard_rare {source="GARD:0003480"} subset: ordo_malformation_syndrome {source="Orphanet:66625"} synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627] xref: GARD:0003480 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:66625", source="ORDO:66625/attributed", source="ORDO:66625/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:66625/attributed", source="Orphanet:66625/ntbt", source="Orphanet:66625"} xref: MESH:C565313 {source="MONDO:equivalentTo"} -xref: OMIM:605627 {source="ORDO:66625/e", source="Orphanet:66625", source="MONDO:equivalentTo"} +xref: OMIM:605627 {source="Orphanet:66625", source="MONDO:equivalentTo", source="Orphanet:66625/e"} xref: Orphanet:66625 {source="MONDO:equivalentTo", source="OMIM:605627"} xref: SCTID:720855003 {source="MONDO:equivalentTo"} xref: UMLS:C1854108 {source="Orphanet:66625", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605627"} @@ -228160,10 +228094,10 @@ synonym: "FHII" RELATED ABBREVIATION [GARD:0002789] synonym: "HALD2" RELATED ABBREVIATION [OMIM:605635] synonym: "hyperaldosteronism, familial, type II" RELATED [OMIM:605635] xref: GARD:0002789 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:404", source="ORDO:404/inclusion", source="ORDO:404/ntbt"} +xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:404/inclusion", source="Orphanet:404/ntbt", source="Orphanet:404"} xref: MESH:C565312 {source="MONDO:equivalentTo"} xref: NCIT:C127162 {source="MONDO:equivalentTo"} -xref: OMIM:605635 {source="ORDO:404/e", source="Orphanet:404", source="MONDO:equivalentTo"} +xref: OMIM:605635 {source="Orphanet:404", source="MONDO:equivalentTo", source="Orphanet:404/e"} xref: Orphanet:404 {source="OMIM:605635", source="MONDO:equivalentTo"} xref: SCTID:703233008 {source="MONDO:equivalentTo"} xref: UMLS:C1854107 {source="NCBI:mim2gene_medline", source="OMIM:605635", source="Orphanet:404", source="MONDO:equivalentTo"} @@ -228201,10 +228135,10 @@ synonym: "Prn1" RELATED [OMIM:605642] synonym: "ptc-RCC" EXACT [Orphanet:97290] synonym: "Ptcprn" RELATED [OMIM:605642] synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [OMIM:605642] -xref: ICD10CM:C64 {source="ORDO:97290/attributed", source="ORDO:97290/ntbt", source="Orphanet:97290"} -xref: ICD10CM:C73 {source="ORDO:97290/attributed", source="ORDO:97290/ntbt", source="Orphanet:97290"} +xref: ICD10CM:C64 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"} +xref: ICD10CM:C73 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"} xref: MESH:C565310 {source="MONDO:equivalentTo"} -xref: OMIM:605642 {source="ORDO:97290/e", source="MONDO:equivalentTo", source="Orphanet:97290"} +xref: OMIM:605642 {source="MONDO:equivalentTo", source="Orphanet:97290", source="Orphanet:97290/e"} xref: Orphanet:97290 {source="OMIM:605642", source="MONDO:equivalentTo"} xref: SCTID:717734005 {source="MONDO:equivalentTo"} xref: UMLS:C1854104 {source="OMIM:605642", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97290"} @@ -228225,7 +228159,7 @@ synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [OMIM:60 xref: DOID:0060869 {source="MONDO:equivalentTo"} xref: GARD:0004357 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C565309 {source="MONDO:equivalentTo"} -xref: OMIM:605670 {source="MONDO:equivalentTo", source="ORDO:67042/e", source="Orphanet:67042", source="DOID:0060869"} +xref: OMIM:605670 {source="MONDO:equivalentTo", source="Orphanet:67042", source="DOID:0060869", source="Orphanet:67042/e"} xref: Orphanet:67042 {source="MONDO:equivalentTo", source="OMIM:605670", source="DOID:0060869"} xref: SCTID:719431007 {source="MONDO:equivalentTo"} xref: UMLS:C1854065 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:67042", source="OMIM:605670"} @@ -228242,7 +228176,7 @@ xref: MESH:C565308 {source="MONDO:equivalentTo"} xref: OMIM:605672 {source="MONDO:equivalentTo"} xref: Orphanet:1173 {source="MONDO:subClassOf", source="OMIM:605672"} xref: UMLS:C1854064 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605672"} -is_a: MONDO:0008935 {source="ORDO:1173/btnt"} ! cerebellar ataxia-hypogonadism syndrome +is_a: MONDO:0008935 {source="Orphanet:1173/btnt"} ! cerebellar ataxia-hypogonadism syndrome property_value: confidence "2.559090909090909" xsd:double [Term] @@ -228269,8 +228203,8 @@ synonym: "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" E xref: DOID:0090128 {source="MONDO:equivalentTo"} xref: GARD:0005595 {source="MONDO:equivalentTo"} xref: MESH:C535581 {source="MONDO:equivalentTo"} -xref: OMIM:605676 {source="MONDO:equivalentTo", source="ORDO:65282/e", source="Orphanet:65282", source="DOID:0090128"} -xref: OMIM:615821 {source="ORDO:65282/btnt", source="MONDO:superClassOf", source="Orphanet:65282"} +xref: OMIM:605676 {source="MONDO:equivalentTo", source="Orphanet:65282", source="DOID:0090128", source="Orphanet:65282/e"} +xref: OMIM:615821 {source="MONDO:superClassOf", source="Orphanet:65282", source="Orphanet:65282/btnt"} xref: Orphanet:65282 {source="OMIM:605676", source="MONDO:equivalentTo"} xref: SCTID:719835006 {source="MONDO:equivalentTo"} xref: UMLS:C1854063 {source="OMIM:605676", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:65282"} @@ -228300,8 +228234,8 @@ synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:00801 synonym: "NFU1 deficiency" EXACT [Orphanet:401869] synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080133 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:401869/attributed", source="ORDO:401869/ntbt", source="Orphanet:401869"} -xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="ORDO:401869/e", source="Orphanet:401869"} +xref: ICD10CM:E88.8 {source="Orphanet:401869", source="Orphanet:401869/attributed", source="Orphanet:401869/ntbt"} +xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="Orphanet:401869", source="Orphanet:401869/e"} xref: Orphanet:289573 {source="MONDO:subClassOf", source="OMIM:605711"} xref: Orphanet:401869 {source="OMIM:605711", source="MONDO:equivalentTo"} xref: UMLS:C1854052 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -228362,7 +228296,7 @@ synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation xref: DOID:0111089 {source="MONDO:equivalentTo"} xref: MESH:C563980 {source="MONDO:equivalentTo"} xref: NCIT:C125705 {source="MONDO:equivalentTo"} -xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source="ORDO:319462/e", source="DOID:0111089"} +xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source="DOID:0111089", source="Orphanet:319462/e"} xref: Orphanet:319462 {source="OMIM:605724", source="MONDO:equivalentTo"} xref: SCTID:766707003 {source="MONDO:equivalentTo"} xref: UMLS:C1838457 {source="NCIT:C125705", source="OMIM:605724", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -228393,12 +228327,12 @@ synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [M synonym: "spinal muscular atrophy, Jerash type" RELATED [OMIM:605726] xref: DOID:0111065 {source="MONDO:equivalentTo"} xref: GARD:0010133 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="DOID:0111065", source="Orphanet:139552", source="ORDO:139552/attributed", source="ORDO:139552/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="DOID:0111065", source="Orphanet:139552/attributed", source="Orphanet:139552/ntbt", source="Orphanet:139552"} xref: MESH:C535715 {source="MONDO:equivalentTo"} -xref: OMIM:605726 {source="MONDO:equivalentTo", source="DOID:0111065", source="Orphanet:139552", source="ORDO:139552/e"} +xref: OMIM:605726 {source="Orphanet:139552/e", source="MONDO:equivalentTo", source="DOID:0111065", source="Orphanet:139552"} xref: Orphanet:139552 {source="MONDO:equivalentTo", source="OMIM:605726", source="DOID:0111065"} xref: SCTID:763533003 {source="MONDO:equivalentTo"} -xref: UMLS:C1854023 {source="NCBI:mim2gene_medline", source="OMIM:605726", source="MONDO:notFoundInDiseaseSubset", source="DOID:0111065", source="Orphanet:139552", source="ORDO:139552/e"} +xref: UMLS:C1854023 {source="Orphanet:139552/e", source="NCBI:mim2gene_medline", source="OMIM:605726", source="MONDO:notFoundInDiseaseSubset", source="DOID:0111065", source="Orphanet:139552"} is_a: MONDO:0001516 {source="DC-OMIM:605726", source="DOID:0111065", source="MESH:C535715"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="Orphanet:139552"} ! autosomal recessive distal hereditary motor neuropathy property_value: confidence "0.519607843137255" xsd:double @@ -228436,10 +228370,10 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:605728"} xref: Orphanet:98985 {source="MONDO:subClassOf", source="OMIM:605728", source="DOID:0110254"} xref: UMLS:C1854021 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:605728"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110254", source="MESH:C565301", source="MONDO:Redundant", source="OMIM:605728", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020372 {source="ORDO:98985/btnt"} ! early-onset sutural cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract -is_a: MONDO:0020379 {source="MONDO:Redundant", source="ORDO:98995/btnt", source="indirect"} ! early-onset zonular cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020372 {source="Orphanet:98985/btnt"} ! early-onset sutural cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract +is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt", source="indirect"} ! early-onset zonular cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -228472,7 +228406,7 @@ xref: MESH:C565300 {source="MONDO:equivalentTo"} xref: OMIM:605738 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:605738"} xref: UMLS:C1854018 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605738"} -is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:605738", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:605738", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma property_value: confidence "0.8448594714285722" xsd:double [Term] @@ -228499,7 +228433,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:605749"} xref: Orphanet:98984 {source="MONDO:subClassOf", source="OMIM:605749", source="MONDO:directSiblingOf"} xref: UMLS:C1854003 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605749"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110246", source="MESH:C565298", source="MONDO:Redundant", source="OMIM:605749", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -228556,9 +228490,9 @@ synonym: "nonsyndromic congenital nail disorder type 7" EXACT [DOID:0080085, MON synonym: "onychodysplasia, isolated congenital" RELATED [OMIM:605779] xref: DOID:0080085 {source="MONDO:equivalentTo"} xref: GARD:0009761 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q84.6 {source="ORDO:79144/attributed", source="ORDO:79144/ntbt", source="Orphanet:79144"} +xref: ICD10CM:Q84.6 {source="Orphanet:79144", source="Orphanet:79144/attributed", source="Orphanet:79144/ntbt"} xref: MESH:C538333 {source="MONDO:equivalentTo"} -xref: OMIM:605779 {source="DOID:0080085", source="MONDO:equivalentTo", source="ORDO:79144/e", source="Orphanet:79144"} +xref: OMIM:605779 {source="Orphanet:79144/e", source="DOID:0080085", source="MONDO:equivalentTo", source="Orphanet:79144"} xref: Orphanet:79144 {source="OMIM:605779", source="MONDO:equivalentTo"} xref: SCTID:403281007 {source="MONDO:equivalentTo"} xref: UMLS:C1853984 {source="OMIM:605779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79144"} @@ -228639,13 +228573,13 @@ synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179] xref: DOID:0111079 {source="MONDO:equivalentTo"} xref: GARD:0005926 {source="MONDO:equivalentTo"} -xref: ICD10CM:H30.1 {source="DOID:0111079", source="ORDO:179/ntbt", source="Orphanet:179"} -xref: MESH:C537630 {source="MONDO:equivalentTo", source="DOID:0111079", source="ORDO:179/e", source="Orphanet:179"} -xref: OMIM:605808 {source="MONDO:equivalentTo", source="DOID:0111079", source="ORDO:179/e", source="Orphanet:179"} +xref: ICD10CM:H30.1 {source="Orphanet:179/ntbt", source="DOID:0111079", source="Orphanet:179"} +xref: MESH:C537630 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} +xref: OMIM:605808 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} xref: Orphanet:179 {source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808"} xref: SCTID:231981005 {source="MONDO:equivalentTo"} xref: UMLS:C0339402 {source="MONDO:equivalentObsolete"} -xref: UMLS:C1853959 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808", source="ORDO:179/e", source="Orphanet:179"} +xref: UMLS:C1853959 {source="Orphanet:179/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808", source="Orphanet:179"} is_a: MONDO:0006918 {source="DOID:0111079", source="MESH:C537630/inferred", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! posterior uveitis is_a: MONDO:0019541 {source="Orphanet:179"} ! non-infectious posterior uveitis property_value: confidence "36.6984126984127" xsd:double @@ -228671,7 +228605,7 @@ xref: OMIM:605809 {source="DOID:0110678", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:605809"} xref: UMLS:C1853949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605809"} is_a: MONDO:0018940 {source="DOID:0110678", source="MONDO:Redundant", source="OMIM:605809", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1966 {source="mim2gene_medgen"} ! CHRNE relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -228691,9 +228625,9 @@ synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214] synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214] synonym: "NICCD" EXACT ABBREVIATION [Orphanet:247598] xref: GARD:0010214 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.2 {source="Orphanet:247598", source="ORDO:247598/attributed", source="ORDO:247598/ntbt"} +xref: ICD10CM:E72.2 {source="Orphanet:247598", source="Orphanet:247598/attributed", source="Orphanet:247598/ntbt"} xref: MESH:C536398 {source="MONDO:equivalentTo"} -xref: OMIM:605814 {source="Orphanet:247598", source="ORDO:247598/e", source="MONDO:equivalentTo"} +xref: OMIM:605814 {source="Orphanet:247598", source="MONDO:equivalentTo", source="Orphanet:247598/e"} xref: Orphanet:247598 {source="MONDO:equivalentTo", source="OMIM:605814"} xref: SCTID:717155003 {source="MONDO:equivalentTo"} xref: UMLS:C1853942 {source="Orphanet:247598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605814"} @@ -228709,8 +228643,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 27" NARROW [DOID:0110485] synonym: "autosomal recessive nonsyndromic deafness 27" NARROW [OMIM:605818] synonym: "autosomal recessive nonsyndromic deafness type 27" NARROW [DOID:0110485, MONDORULE:2] -synonym: "deafness, autosomal recessive 27" NARROW [MONDO:Lexical, OMIM:605818] -synonym: "deafness, autosomal recessive 27" NARROW [OMIM:605818, OMIM:genemap2] +synonym: "deafness, autosomal recessive 27" NARROW [MONDO:Lexical, OMIM:605818, OMIM:genemap2] synonym: "DFNB27" NARROW ABBREVIATION [DOID:0110485, MONDO:Lexical, OMIM:605818] xref: DOID:0110485 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110485"} @@ -228750,9 +228683,9 @@ synonym: "quadriceps sparing myopathy" RELATED [GARD:0009493] synonym: "quadriceps-sparing myopathy" EXACT [Orphanet:602] synonym: "rimmed vacuole myopathy" RELATED [GARD:0009493] xref: GARD:0009493 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.8 {source="Orphanet:602", source="ORDO:602/attributed", source="ORDO:602/ntbt"} -xref: MESH:C536816 {source="ORDO:602/e", source="Orphanet:602"} -xref: OMIM:605820 {source="ORDO:602/e", source="Orphanet:602", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.8 {source="Orphanet:602/attributed", source="Orphanet:602/ntbt", source="Orphanet:602"} +xref: MESH:C536816 {source="Orphanet:602", source="Orphanet:602/e"} +xref: OMIM:605820 {source="Orphanet:602", source="MONDO:equivalentTo", source="Orphanet:602/e"} xref: OMIM:617158 {source="Orphanet:602", source="MONDO:superClassOf"} xref: Orphanet:602 {source="OMIM:605820", source="MONDO:equivalentTo"} xref: SCTID:702382000 {source="MONDO:equivalentTo"} @@ -228777,8 +228710,8 @@ def: "Spondylo-ocular syndrome is a very rare association of spinal and ocular m subset: ordo_malformation_syndrome {source="Orphanet:85194"} synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605822] synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822] -xref: ICD10CM:Q87.5 {source="ORDO:85194/attributed", source="ORDO:85194/ntbt", source="Orphanet:85194"} -xref: OMIM:605822 {source="MONDO:equivalentTo", source="ORDO:85194/e", source="Orphanet:85194"} +xref: ICD10CM:Q87.5 {source="Orphanet:85194", source="Orphanet:85194/attributed", source="Orphanet:85194/ntbt"} +xref: OMIM:605822 {source="Orphanet:85194/e", source="MONDO:equivalentTo", source="Orphanet:85194"} xref: Orphanet:85194 {source="OMIM:605822", source="MONDO:equivalentTo"} xref: SCTID:715653007 {source="MONDO:equivalentTo"} xref: UMLS:C1853925 {source="NCBI:mim2gene_medline", source="OMIM:605822", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85194"} @@ -228796,9 +228729,9 @@ def: "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin subset: ordo_disease {source="Orphanet:168632"} synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605827] synonym: "GBFHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605827] -xref: ICD10CM:Q82.5 {source="Orphanet:168632", source="ORDO:168632/attributed", source="ORDO:168632/ntbt"} +xref: ICD10CM:Q82.5 {source="Orphanet:168632/attributed", source="Orphanet:168632/ntbt", source="Orphanet:168632"} xref: MESH:C565284 {source="MONDO:equivalentTo"} -xref: OMIM:605827 {source="ORDO:168632/e", source="Orphanet:168632", source="MONDO:equivalentTo"} +xref: OMIM:605827 {source="Orphanet:168632", source="MONDO:equivalentTo", source="Orphanet:168632/e"} xref: Orphanet:168632 {source="MONDO:equivalentTo", source="OMIM:605827"} xref: SCTID:766928004 {source="MONDO:equivalentTo"} xref: UMLS:C1853919 {source="NCBI:mim2gene_medline", source="Orphanet:168632", source="MONDO:equivalentTo", source="OMIM:605827"} @@ -228881,9 +228814,9 @@ synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343] synonym: "DMGDH deficiency" EXACT [Orphanet:243343] synonym: "Dmgdh deficiency" RELATED [OMIM:605850] synonym: "DMGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605850] -xref: ICD10CM:E72.5 {source="Orphanet:243343", source="ORDO:243343/attributed", source="ORDO:243343/ntbt"} +xref: ICD10CM:E72.5 {source="Orphanet:243343", source="Orphanet:243343/attributed", source="Orphanet:243343/ntbt"} xref: MESH:C565278 {source="MONDO:equivalentTo"} -xref: OMIM:605850 {source="Orphanet:243343", source="ORDO:243343/e", source="MONDO:equivalentTo"} +xref: OMIM:605850 {source="Orphanet:243343", source="MONDO:equivalentTo", source="Orphanet:243343/e"} xref: Orphanet:243343 {source="MONDO:equivalentTo", source="OMIM:605850"} xref: SCTID:719449007 {source="MONDO:equivalentTo"} xref: UMLS:C1853892 {source="Orphanet:243343", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605850"} @@ -228922,12 +228855,12 @@ synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, Orphanet:407] synonym: "nonketotic hyperglycinemia" EXACT [DOID:9268] xref: DOID:9268 {source="MONDO:equivalentTo"} xref: GARD:0007219 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.5 {source="ORDO:407/ntbt", source="Orphanet:407", source="ORDO:407/inclusion"} +xref: ICD10CM:E72.5 {source="Orphanet:407/inclusion", source="Orphanet:407", source="Orphanet:407/ntbt"} xref: ICD10CM:E72.51 {source="DOID:9268"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D020158 {source="DOID:9268"} xref: NCIT:C84937 {source="MONDO:equivalentTo", source="DOID:9268"} -xref: OMIM:605899 {source="ORDO:407/e", source="MONDO:equivalentTo", source="Orphanet:407", source="DOID:9268"} +xref: OMIM:605899 {source="MONDO:equivalentTo", source="Orphanet:407", source="Orphanet:407/e", source="DOID:9268"} xref: Orphanet:407 {source="OMIM:605899", source="MONDO:equivalentTo"} xref: SCTID:237939006 {source="MONDO:equivalentTo", source="DOID:9268"} xref: UMLS:C0268560 {source="OMIM:605899", source="MONDO:notFoundInDiseaseSubset"} @@ -228987,9 +228920,9 @@ synonym: "Hmgcs2 deficiency" RELATED [OMIM:605911] synonym: "HMGCS2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605911] synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [OMIM:605911] xref: GARD:0002712 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="Orphanet:35701", source="ORDO:35701/attributed", source="ORDO:35701/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:35701/attributed", source="Orphanet:35701/ntbt", source="Orphanet:35701"} xref: MESH:C567784 {source="MONDO:equivalentTo"} -xref: OMIM:605911 {source="Orphanet:35701", source="MONDO:equivalentTo", source="ORDO:35701/e"} +xref: OMIM:605911 {source="Orphanet:35701", source="MONDO:equivalentTo", source="Orphanet:35701/e"} xref: Orphanet:35701 {source="OMIM:605911", source="MONDO:equivalentTo"} xref: SCTID:725286002 {source="MONDO:equivalentTo"} xref: UMLS:C2751532 {source="Orphanet:35701", source="OMIM:605911", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -229004,9 +228937,9 @@ name: East Texas bleeding disorder subset: ordo_disease {source="Orphanet:391320"} synonym: "Bdet" RELATED [OMIM:605913] synonym: "bleeding disorder, EAST Texas type" RELATED [OMIM:605913] -xref: ICD10CM:D68.2 {source="ORDO:391320/attributed", source="ORDO:391320/ntbt", source="Orphanet:391320"} +xref: ICD10CM:D68.2 {source="Orphanet:391320", source="Orphanet:391320/attributed", source="Orphanet:391320/ntbt"} xref: MESH:C565275 {source="MONDO:equivalentTo"} -xref: OMIM:605913 {source="MONDO:equivalentTo", source="ORDO:391320/e", source="Orphanet:391320"} +xref: OMIM:605913 {source="MONDO:equivalentTo", source="Orphanet:391320", source="Orphanet:391320/e"} xref: Orphanet:391320 {source="MONDO:equivalentTo", source="OMIM:605913"} xref: UMLS:C1853831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605913", source="Orphanet:391320"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease @@ -229065,9 +228998,9 @@ name: metaphyseal dysplasia, Braun-Tinschert type def: "Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." [Orphanet:85188] subset: ordo_malformation_syndrome {source="Orphanet:85188"} synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946] -xref: ICD10CM:Q78.5 {source="Orphanet:85188", source="ORDO:85188/attributed", source="ORDO:85188/ntbt"} +xref: ICD10CM:Q78.5 {source="Orphanet:85188", source="Orphanet:85188/attributed", source="Orphanet:85188/ntbt"} xref: MESH:C565271 {source="MONDO:equivalentTo"} -xref: OMIM:605946 {source="Orphanet:85188", source="MONDO:equivalentTo", source="ORDO:85188/e"} +xref: OMIM:605946 {source="Orphanet:85188", source="MONDO:equivalentTo", source="Orphanet:85188/e"} xref: Orphanet:85188 {source="MONDO:equivalentTo", source="OMIM:605946"} xref: SCTID:717221005 {source="MONDO:equivalentTo"} xref: UMLS:C1853825 {source="Orphanet:85188", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:605946"} @@ -229091,9 +229024,9 @@ synonym: "syndactyly, preaxial polydactyly and sternal deformity" RELATED [GARD: synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM:605967] synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203] xref: GARD:0008485 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.0 {source="Orphanet:85203", source="ORDO:85203/attributed", source="ORDO:85203/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:85203/attributed", source="Orphanet:85203/ntbt", source="Orphanet:85203"} xref: MESH:C535664 {source="MONDO:equivalentTo"} -xref: OMIM:605967 {source="ORDO:85203/e", source="Orphanet:85203", source="MONDO:equivalentTo"} +xref: OMIM:605967 {source="Orphanet:85203", source="MONDO:equivalentTo", source="Orphanet:85203/e"} xref: Orphanet:85203 {source="MONDO:equivalentTo", source="OMIM:605967"} xref: SCTID:720412009 {source="MONDO:equivalentTo"} xref: UMLS:C1853812 {source="NCBI:mim2gene_medline", source="Orphanet:85203", source="MONDO:equivalentTo", source="OMIM:605967"} @@ -229133,13 +229066,13 @@ synonym: "TALDO deficiency" EXACT [Orphanet:101028] synonym: "Taldo deficiency" RELATED [OMIM:606003] synonym: "transaldolase deficiency" EXACT [OMIM:606003] xref: GARD:0010445 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.8 {source="ORDO:101028/attributed", source="ORDO:101028/ntbt", source="Orphanet:101028"} +xref: ICD10CM:E74.8 {source="Orphanet:101028", source="Orphanet:101028/attributed", source="Orphanet:101028/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563207 {source="MONDO:equivalentTo"} -xref: OMIM:606003 {source="ORDO:101028/e", source="MONDO:equivalentTo", source="Orphanet:101028"} +xref: OMIM:606003 {source="MONDO:equivalentTo", source="Orphanet:101028", source="Orphanet:101028/e"} xref: Orphanet:101028 {source="MONDO:equivalentTo", source="OMIM:606003"} xref: SCTID:124252008 {source="MONDO:equivalentTo"} -xref: UMLS:C1291329 {source="ORDO:101028/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101028", source="OMIM:606003"} +xref: UMLS:C1291329 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101028", source="Orphanet:101028/e", source="OMIM:606003"} is_a: MONDO:0019231 {source="Orphanet:101028"} ! inborn disorder of pentose phosphate metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11559 {source="mim2gene_medgen"} ! TALDO1 property_value: confidence "4.277777777777778" xsd:double @@ -229152,8 +229085,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 18" NARROW [DOID:0110549] synonym: "autosomal dominant nonsyndromic deafness 18" NARROW [OMIM:606012] synonym: "autosomal dominant nonsyndromic deafness type 18" NARROW [DOID:0110549, MONDORULE:2] -synonym: "deafness, autosomal dominant 18" NARROW [MONDO:Lexical, OMIM:606012] -synonym: "deafness, autosomal dominant 18" NARROW [OMIM:606012, OMIM:genemap2] +synonym: "deafness, autosomal dominant 18" NARROW [MONDO:Lexical, OMIM:606012, OMIM:genemap2] synonym: "DFNA18" NARROW ABBREVIATION [DOID:0110549, MONDO:Lexical, OMIM:606012] xref: DOID:0110549 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110549"} @@ -229216,11 +229148,11 @@ synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, Orphanet:35] synonym: "propionyl-Coa carboxylase deficiency" RELATED [OMIM:606054] xref: DOID:14701 {source="MONDO:equivalentTo"} xref: GARD:0000467 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="Orphanet:35", source="ORDO:35/ntbt", source="ORDO:35/inclusion"} +xref: ICD10CM:E71.1 {source="Orphanet:35/inclusion", source="Orphanet:35/ntbt", source="Orphanet:35"} xref: ICD10CM:E71.121 {source="DOID:14701", source="MONDO:equivalentTo"} -xref: MESH:D056693 {source="DOID:14701", source="ORDO:35/e", source="Orphanet:35", source="MONDO:equivalentTo"} +xref: MESH:D056693 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"} xref: NCIT:C85030 {source="DOID:14701", source="MONDO:equivalentTo"} -xref: OMIM:606054 {source="DOID:14701", source="ORDO:35/e", source="Orphanet:35", source="MONDO:equivalentTo"} +xref: OMIM:606054 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"} xref: Orphanet:35 {source="MONDO:equivalentTo", source="OMIM:606054"} xref: SCTID:124718009 {source="DOID:14701"} xref: SCTID:18979005 {source="DOID:14701"} @@ -229228,8 +229160,8 @@ xref: SCTID:237948001 {source="DOID:14701"} xref: SCTID:360364008 {source="DOID:14701"} xref: SCTID:367417005 {source="DOID:14701"} xref: SCTID:69080001 {source="DOID:14701", source="MONDO:equivalentTo"} -xref: UMLS:C0268579 {source="DOID:14701", source="ORDO:35/e", source="NCBI:mim2gene_medline", source="Orphanet:35", source="MONDO:equivalentTo", source="NCIT:C85030", source="OMIM:606054"} -xref: UMLS:C0311298 {source="ORDO:35/e", source="Orphanet:35", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268579 {source="DOID:14701", source="NCBI:mim2gene_medline", source="Orphanet:35", source="MONDO:equivalentTo", source="NCIT:C85030", source="OMIM:606054", source="Orphanet:35/e"} +xref: UMLS:C0311298 {source="Orphanet:35", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35/e"} xref: UMLS:C2717876 {source="DOID:14701", source="Orphanet:35", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000688 {source="DOID:14701", source="MONDO:Redundant", source="NCIT:C85030", source="Orphanet:35/inferred"} ! inherited organic acidemia is_a: MONDO:0019215 {source="Orphanet:35"} ! classic organic aciduria @@ -229256,9 +229188,9 @@ synonym: "MOGS-CDG" EXACT CLINGEN_PREFERRED [] synonym: "MOGS-CDG (CDG-IIb)" RELATED [GARD:0010767] xref: DOID:0070254 {source="MONDO:equivalentTo"} xref: GARD:0010767 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79330/attributed", source="ORDO:79330/ntbt", source="Orphanet:79330"} +xref: ICD10CM:E77.8 {source="Orphanet:79330/attributed", source="Orphanet:79330/ntbt", source="Orphanet:79330"} xref: MESH:C565264 {source="MONDO:equivalentTo"} -xref: OMIM:606056 {source="MONDO:equivalentTo", source="ORDO:79330/e", source="Orphanet:79330"} +xref: OMIM:606056 {source="Orphanet:79330/e", source="MONDO:equivalentTo", source="Orphanet:79330"} xref: Orphanet:79330 {source="MONDO:equivalentTo", source="OMIM:606056"} xref: SCTID:725028009 {source="MONDO:equivalentTo"} xref: UMLS:C1853736 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79330", source="OMIM:606056"} @@ -229311,12 +229243,12 @@ synonym: "HFE4" EXACT ABBREVIATION [DOID:0111028, MONDO:Lexical, OMIM:606069] synonym: "SLC40A1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111028 {source="MONDO:equivalentTo"} xref: GARD:0010094 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="DOID:0111028", source="ORDO:139491/attributed", source="ORDO:139491/ntbt", source="Orphanet:139491"} -xref: MESH:C537249 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="ORDO:139491/e"} -xref: OMIM:606069 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="ORDO:139491/e"} +xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="DOID:0111028", source="Orphanet:139491", source="Orphanet:139491/attributed", source="Orphanet:139491/ntbt"} +xref: MESH:C537249 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e"} +xref: OMIM:606069 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e"} xref: Orphanet:139491 {source="DOID:0111028", source="MONDO:equivalentTo", source="OMIM:606069"} xref: SCTID:719975002 {source="MONDO:equivalentTo"} -xref: UMLS:C1853733 {source="DOID:0111028", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139491", source="ORDO:139491/e", source="OMIM:606069"} +xref: UMLS:C1853733 {source="DOID:0111028", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e", source="OMIM:606069"} is_a: MONDO:0006507 {source="DOID:0111028", source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="Orphanet:139491", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10909 ! SLC40A1 @@ -229377,8 +229309,8 @@ synonym: "HMSN2C" EXACT ABBREVIATION [DOID:0110182, MONDO:Lexical, OMIM:606071] synonym: "TRPV4 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110182 {source="MONDO:equivalentTo"} xref: GARD:0001250 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99937/attributed", source="ORDO:99937/ntbt", source="DOID:0110182", source="Orphanet:99937"} -xref: OMIM:606071 {source="MONDO:equivalentTo", source="DOID:0110182", source="ORDO:99937/e", source="Orphanet:99937", source="GARD:0001250"} +xref: ICD10CM:G60.0 {source="DOID:0110182", source="Orphanet:99937", source="Orphanet:99937/attributed", source="Orphanet:99937/ntbt"} +xref: OMIM:606071 {source="MONDO:equivalentTo", source="DOID:0110182", source="Orphanet:99937", source="GARD:0001250", source="Orphanet:99937/e"} xref: Orphanet:99937 {source="OMIM:606071", source="MONDO:equivalentTo", source="DOID:0110182"} xref: SCTID:717010007 {source="MONDO:equivalentTo"} xref: UMLS:C1853710 {source="OMIM:606071", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99937"} @@ -229396,12 +229328,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1250/charcot- id: MONDO:0011634 name: rippling muscle disease def: "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" [doi:10.1002/mus.10156, MONDO:cjm] -xref: ICD10CM:G71.8 {source="Orphanet:97238", source="ORDO:97238/attributed", source="ORDO:97238/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:97238/attributed", source="Orphanet:97238/ntbt", source="Orphanet:97238"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069417 {source="ORDO:97238/e", source="Orphanet:97238"} -xref: MESH:C535685 {source="ORDO:97238/e", source="Orphanet:97238"} +xref: MedDRA:10069417 {source="Orphanet:97238", source="Orphanet:97238/e"} +xref: MESH:C535685 {source="Orphanet:97238", source="Orphanet:97238/e"} xref: SCTID:709281006 {source="MONDO:equivalentTo"} -xref: UMLS:C1853698 {source="DOID:0060255", source="ORDO:97238/e", source="Orphanet:97238", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1853698 {source="DOID:0060255", source="Orphanet:97238", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97238/e"} is_a: MONDO:0016110 ! non-dystrophic myopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease xsd:anyURI {source="GARD:0009164"} @@ -229466,13 +229398,13 @@ synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159] synonym: "Neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [DOID:0110737] xref: DOID:0110737 {source="MONDO:equivalentTo"} xref: GARD:0010686 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G23.0 {source="ORDO:157846/attributed", source="ORDO:157846/ntbt", source="DOID:0110737", source="Orphanet:157846"} +xref: ICD10CM:G23.0 {source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/attributed", source="Orphanet:157846/ntbt"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C548080 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="ORDO:157846/e"} -xref: OMIM:606159 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="ORDO:157846/e"} +xref: MESH:C548080 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"} +xref: OMIM:606159 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"} xref: Orphanet:157846 {source="OMIM:606159", source="MONDO:equivalentTo", source="DOID:0110737"} xref: SCTID:699299001 {source="MONDO:equivalentTo"} -xref: UMLS:C1853578 {source="OMIM:606159", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="ORDO:157846/e"} +xref: UMLS:C1853578 {source="OMIM:606159", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"} is_a: MONDO:0015548 {source="Orphanet:157846"} ! Huntington disease-like syndrome is_a: MONDO:0017763 {source="Orphanet:157846"} ! disorder of iron metabolism and transport is_a: MONDO:0018307 {source="DC-OMIM:606159", source="DOID:0110737", source="OMIM:606159", source="Orphanet:157846"} ! neurodegeneration with brain iron accumulation @@ -229513,10 +229445,10 @@ synonym: "GENITOPATELLAR syndrome" RELATED [OMIM:606170] synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170] synonym: "GTPTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606170] xref: GARD:0010994 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:85201", source="ORDO:85201/attributed", source="ORDO:85201/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85201/attributed", source="Orphanet:85201/ntbt", source="Orphanet:85201"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565255 {source="MONDO:equivalentTo"} -xref: OMIM:606170 {source="Orphanet:85201", source="MONDO:equivalentTo", source="ORDO:85201/e"} +xref: OMIM:606170 {source="Orphanet:85201", source="MONDO:equivalentTo", source="Orphanet:85201/e"} xref: Orphanet:85201 {source="OMIM:606170", source="MONDO:equivalentTo"} xref: SCTID:702367005 {source="MONDO:equivalentTo"} xref: UMLS:C1853566 {source="Orphanet:85201", source="OMIM:606170", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -229632,7 +229564,7 @@ xref: MESH:C565251 {source="MONDO:equivalentTo"} xref: OMIM:606187 {source="DOID:0110039", source="MONDO:equivalentTo"} xref: Orphanet:1020 {source="MONDO:subClassOf", source="OMIM:606187"} xref: UMLS:C1853555 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606187"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -229649,7 +229581,7 @@ xref: MESH:C536266 {source="MONDO:equivalentTo"} xref: OMIM:606190 {source="MONDO:equivalentTo"} xref: Orphanet:2495 {source="MONDO:subClassOf", source="OMIM:606190"} xref: UMLS:C1853554 {source="OMIM:606190", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016642 {source="MESH:C536266", source="MONDO:Redundant", source="ORDO:2495/btnt"} ! meningioma +is_a: MONDO:0016642 {source="MESH:C536266", source="MONDO:Redundant", source="Orphanet:2495/btnt"} ! meningioma intersection_of: MONDO:0016642 ! meningioma intersection_of: realized_in_response_to ENVO:01001026 ! electromagnetic radiation property_value: confidence "15.999999999999993" xsd:double @@ -229726,10 +229658,10 @@ synonym: "PHMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606232] synonym: "telomeric 22Q13 monosomy syndrome" RELATED [OMIM:606232] xref: DOID:0080354 {source="MONDO:equivalentTo"} xref: GARD:0010130 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:48652/attributed", source="ORDO:48652/ntbt", source="Orphanet:48652"} +xref: ICD10CM:Q93.5 {source="Orphanet:48652", source="Orphanet:48652/attributed", source="Orphanet:48652/ntbt"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536801 {source="MONDO:equivalentTo"} -xref: OMIM:606232 {source="MONDO:equivalentTo", source="ORDO:48652/e", source="Orphanet:48652"} +xref: OMIM:606232 {source="Orphanet:48652/e", source="MONDO:equivalentTo", source="Orphanet:48652"} xref: Orphanet:48652 {source="MONDO:equivalentTo", source="OMIM:606232"} xref: SCTID:699310000 {source="MONDO:equivalentTo"} xref: UMLS:C1853490 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:48652", source="OMIM:606232"} @@ -229749,7 +229681,7 @@ synonym: "thyroid carcinoma, nonmedullary, 3" EXACT [OMIM:606240, OMIM:genemap2] xref: OMIM:606240 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:606240"} xref: UMLS:C1853488 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606240"} -is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma +is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma is_a: MONDO:0017896 {source="OMIM:606240"} ! familial nonmedullary thyroid carcinoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.198067632850242" xsd:double @@ -229787,21 +229719,21 @@ xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"} xref: EFO:0007143 {source="MONDO:equivalentTo"} xref: GARD:0005654 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0012218 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="ORDO:163699/ntbt", source="Orphanet:163699"} +xref: ICD10CM:C49.9 {source="Orphanet:163699/ntbt", source="Orphanet:163699"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9581/3 {source="NCIT:C3750"} -xref: MedDRA:10001882 {source="ORDO:163699/e", source="Orphanet:163699"} -xref: MESH:D018234 {source="DOID:4239", source="MONDO:equivalentTo", source="ORDO:163699/e", source="Orphanet:163699", source="EFO:0007143"} +xref: MedDRA:10001882 {source="Orphanet:163699/e", source="Orphanet:163699"} +xref: MESH:D018234 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="Orphanet:163699", source="EFO:0007143"} xref: NCIT:C3750 {source="DOID:4239", source="MONDO:equivalentTo"} xref: NCIT:C7943 {source="DOID:4239", source="MONDO:equivalentTo"} xref: NCIT:C8092 {source="DOID:4239"} -xref: OMIM:606243 {source="DOID:4239", source="MONDO:equivalentTo", source="ORDO:163699/e", source="Orphanet:163699"} +xref: OMIM:606243 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="Orphanet:163699"} xref: ONCOTREE:ASPS {source="MONDO:equivalentTo"} xref: Orphanet:163699 {source="MONDO:equivalentTo", source="OMIM:606243"} xref: SCTID:302839003 {source="DOID:4239"} xref: SCTID:404056007 {source="DOID:4239", source="MONDO:equivalentTo"} xref: SCTID:88195001 {source="DOID:4239"} -xref: UMLS:C0206657 {source="NCBI:mim2gene_medline", source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C3750", source="ORDO:163699/e", source="Orphanet:163699", source="OMIM:606243"} +xref: UMLS:C0206657 {source="Orphanet:163699/e", source="NCBI:mim2gene_medline", source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C3750", source="Orphanet:163699", source="OMIM:606243"} xref: UMLS:C0279544 {source="DOID:4239", source="MONDO:equivalentTo", source="NCIT:C7943"} xref: UMLS:C0279985 {source="DOID:4239", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005089 {source="DC-OMIM:606243", source="EFO:0007143", source="MESH:D018234", source="MONDO:Redundant", source="NCIT:C3750/inferred", source="NCIT:C7943/inferred", source="linkedlifedata"} ! sarcoma @@ -229830,8 +229762,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 24" NARROW [DOID:0110554] synonym: "autosomal dominant nonsyndromic deafness 24" NARROW [OMIM:606282] synonym: "autosomal dominant nonsyndromic deafness type 24" NARROW [DOID:0110554, MONDORULE:2] -synonym: "deafness, autosomal dominant 24" NARROW [OMIM:606282, OMIM:genemap2] -synonym: "deafness, autosomal dominant 24" NARROW [MONDO:Lexical, OMIM:606282] +synonym: "deafness, autosomal dominant 24" NARROW [MONDO:Lexical, OMIM:606282, OMIM:genemap2] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 24" NARROW [GARD:0009166] synonym: "DFNA 24" NARROW [GARD:0009166] synonym: "DFNA24" NARROW ABBREVIATION [DOID:0110554, MONDO:Lexical, OMIM:606282] @@ -229889,10 +229820,8 @@ synonym: "autosomal dominant deafness 22" NARROW [DOID:0110552] synonym: "autosomal dominant nonsyndromic deafness 22" NARROW [OMIM:606346] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 22" NARROW [DOID:0110552, MONDORULE:2] -synonym: "deafness, autosomal dominant 22" NARROW [OMIM:606346, OMIM:genemap2] -synonym: "deafness, autosomal dominant 22" NARROW [MONDO:Lexical, OMIM:606346] +synonym: "deafness, autosomal dominant 22" NARROW [MONDO:Lexical, OMIM:606346, OMIM:genemap2] synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" NARROW [OMIM:606346, OMIM:genemap2] -synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" NARROW [OMIM:606346] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" NARROW [GARD:0009167] synonym: "deafness, autosomal dominant type 22" NARROW [MONDORULE:2, OMIM:606346] synonym: "DFNA 22" RELATED [GARD:0009167] @@ -229964,12 +229893,12 @@ synonym: "Pls, juvenile" RELATED [OMIM:606353] synonym: "PLSJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606353] synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical, OMIM:606353] xref: GARD:0004485 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:247604/attributed", source="ORDO:247604/ntbt", source="Orphanet:247604"} -xref: MESH:C536416 {source="MONDO:equivalentTo", source="Orphanet:247604", source="ORDO:247604/e"} -xref: OMIM:606353 {source="MONDO:equivalentTo", source="Orphanet:247604", source="ORDO:247604/e"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:247604", source="Orphanet:247604/attributed", source="Orphanet:247604/ntbt"} +xref: MESH:C536416 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"} +xref: OMIM:606353 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"} xref: Orphanet:247604 {source="MONDO:equivalentTo", source="OMIM:606353"} xref: SCTID:717964007 {source="MONDO:equivalentTo"} -xref: UMLS:C1853396 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:247604", source="ORDO:247604/e", source="OMIM:606353"} +xref: UMLS:C1853396 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e", source="OMIM:606353"} is_a: MONDO:0018155 {source="DC-OMIM:606353", source="linkedlifedata"} ! lateral sclerosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/443 {source="mim2gene_medgen"} ! ALS2 property_value: confidence "3.7222222222222223" xsd:double @@ -229986,9 +229915,9 @@ synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" RELATED synonym: "immunodeficiency due to CD25 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [OMIM:606367] synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100] -xref: ICD10CM:D81.2 {source="ORDO:169100/attributed", source="ORDO:169100/ntbt", source="Orphanet:169100"} +xref: ICD10CM:D81.2 {source="Orphanet:169100/attributed", source="Orphanet:169100/ntbt", source="Orphanet:169100"} xref: MESH:C565232 {source="MONDO:equivalentTo"} -xref: OMIM:606367 {source="MONDO:equivalentTo", source="Orphanet:169100", source="ORDO:169100/e"} +xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", source="Orphanet:169100"} xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"} xref: UMLS:C1853392 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606367"} is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease @@ -230091,9 +230020,9 @@ synonym: "hypotonia-cystinuria syndrome type 1" EXACT [MONDO:0016538] synonym: "hypotonia-cystinuria type 1 syndrome" EXACT [Orphanet:238517] xref: DOID:0060858 {source="MONDO:equivalentTo"} xref: EFO:0007550 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="Orphanet:163690", source="ORDO:238517/attributed", source="ORDO:238517/ntbt", source="Orphanet:238517", source="ORDO:163690/attributed", source="ORDO:163690/ntbt", source="DOID:0060858"} +xref: ICD10CM:E72.0 {source="Orphanet:163690", source="Orphanet:163690/attributed", source="Orphanet:163690/ntbt", source="Orphanet:238517", source="DOID:0060858", source="Orphanet:238517/attributed", source="Orphanet:238517/ntbt"} xref: MESH:C564710 {source="MONDO:equivalentTo"} -xref: OMIM:606407 {source="Orphanet:163690", source="ORDO:163690/e", source="MONDO:equivalentTo", source="DOID:0060858"} +xref: OMIM:606407 {source="Orphanet:163690", source="MONDO:equivalentTo", source="Orphanet:163690/e", source="DOID:0060858"} xref: Orphanet:163690 {source="MONDO:equivalentTo", source="OMIM:606407", source="MONDO:preferredExternal", source="DOID:0060858"} xref: Orphanet:163693 {source="MONDO:superClassOf", source="OMIM:606407"} xref: Orphanet:238517 {source="MONDO:equivalentTo"} @@ -230129,9 +230058,9 @@ synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" RELATED [MES synonym: "TNX deficiency" RELATED [MESH:C536193] synonym: "Tnx deficiency" RELATED [OMIM:606408] xref: GARD:0008507 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230839", source="ORDO:230839/attributed", source="ORDO:230839/ntbt"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230839", source="Orphanet:230839/attributed", source="Orphanet:230839/ntbt"} xref: MESH:C536193 {source="MONDO:equivalentTo"} -xref: OMIM:606408 {source="Orphanet:230839", source="ORDO:230839/e", source="MONDO:equivalentTo"} +xref: OMIM:606408 {source="Orphanet:230839", source="MONDO:equivalentTo", source="Orphanet:230839/e"} xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"} xref: UMLS:C1848029 {source="Orphanet:230839", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606408"} is_a: MONDO:0000001 {source="MONDO:0015669-obsoleted"} ! disease or disorder @@ -230153,9 +230082,9 @@ synonym: "Huntington disease-like 2" EXACT [MONDO:Lexical, OMIM:606438] synonym: "Huntington disease-like type 2" EXACT [DOID:0090104, MONDORULE:1, OMIM:606438, Orphanet:98934] synonym: "Huntington's disease-like 2" RELATED [DOID:0090104] xref: DOID:0090104 {source="MONDO:equivalentTo"} -xref: ICD10CM:G10 {source="ORDO:98934/attributed", source="ORDO:98934/ntbt", source="Orphanet:98934", source="DOID:0090104"} +xref: ICD10CM:G10 {source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/attributed", source="Orphanet:98934/ntbt"} xref: MESH:C564708 {source="MONDO:equivalentTo"} -xref: OMIM:606438 {source="ORDO:98934/e", source="MONDO:equivalentTo", source="Orphanet:98934", source="DOID:0090104"} +xref: OMIM:606438 {source="MONDO:equivalentTo", source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/e"} xref: Orphanet:98934 {source="OMIM:606438", source="MONDO:equivalentTo", source="DOID:0090104"} xref: SCTID:721228006 {source="MONDO:equivalentTo"} xref: UMLS:C1847987 {source="NCBI:mim2gene_medline", source="OMIM:606438", source="MONDO:equivalentTo", source="Orphanet:98934"} @@ -230171,9 +230100,9 @@ subset: ordo_disease {source="Orphanet:300324"} synonym: "persistent polyclonal B-cell lymphocytosis" EXACT [MONDO:Lexical, OMIM:606445] synonym: "persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes" EXACT [Orphanet:300324] synonym: "PPBL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606445, Orphanet:300324] -xref: ICD10CM:I72.8 {source="Orphanet:300324", source="ORDO:300324/ntbt"} +xref: ICD10CM:I72.8 {source="Orphanet:300324/ntbt", source="Orphanet:300324"} xref: MESH:C564707 {source="MONDO:equivalentTo"} -xref: OMIM:606445 {source="ORDO:300324/e", source="Orphanet:300324", source="MONDO:equivalentTo"} +xref: OMIM:606445 {source="Orphanet:300324", source="MONDO:equivalentTo", source="Orphanet:300324/e"} xref: Orphanet:300324 {source="OMIM:606445", source="MONDO:equivalentTo"} xref: SCTID:763864008 {source="MONDO:equivalentTo"} xref: UMLS:C1847973 {source="OMIM:606445", source="NCBI:mim2gene_medline", source="Orphanet:300324", source="MONDO:equivalentTo"} @@ -230188,8 +230117,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 30" NARROW [DOID:0110560] synonym: "autosomal dominant nonsyndromic deafness 30" NARROW [OMIM:606451] synonym: "autosomal dominant nonsyndromic deafness type 30" NARROW [DOID:0110560, MONDORULE:2] -synonym: "deafness, autosomal dominant 30" NARROW [OMIM:606451, OMIM:genemap2] -synonym: "deafness, autosomal dominant 30" NARROW [MONDO:Lexical, OMIM:606451] +synonym: "deafness, autosomal dominant 30" NARROW [MONDO:Lexical, OMIM:606451, OMIM:genemap2] synonym: "DFNA30" NARROW ABBREVIATION [DOID:0110560, MONDO:Lexical, OMIM:606451] xref: DOID:0110560 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110560"} @@ -230228,8 +230156,8 @@ synonym: "DNM2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:p synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438] xref: DOID:0110197 {source="MONDO:equivalentTo"} xref: GARD:0012438 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:100044", source="ORDO:100044/attributed", source="ORDO:100044/ntbt", source="DOID:0110197"} -xref: OMIM:606482 {source="Orphanet:100044", source="ORDO:100044/e", source="MONDO:equivalentTo", source="DOID:0110197"} +xref: ICD10CM:G60.0 {source="Orphanet:100044", source="Orphanet:100044/attributed", source="Orphanet:100044/ntbt", source="DOID:0110197"} +xref: OMIM:606482 {source="Orphanet:100044", source="MONDO:equivalentTo", source="Orphanet:100044/e", source="DOID:0110197"} xref: Orphanet:100044 {source="MONDO:equivalentTo", source="OMIM:606482", source="DOID:0110197"} xref: Orphanet:228179 {source="MONDO:superClassOf", source="OMIM:606482"} xref: SCTID:765745007 {source="MONDO:equivalentTo"} @@ -230261,9 +230189,9 @@ synonym: "DI-CMTA" EXACT [DOID:0110202] synonym: "Di-Cmta" RELATED [OMIM:606483] xref: DOID:0110202 {source="MONDO:equivalentTo"} xref: GARD:0012437 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:100043", source="ORDO:100043/attributed", source="ORDO:100043/ntbt", source="DOID:0110202"} +xref: ICD10CM:G60.0 {source="Orphanet:100043", source="Orphanet:100043/attributed", source="Orphanet:100043/ntbt", source="DOID:0110202"} xref: MESH:C564702 {source="MONDO:equivalentTo"} -xref: OMIM:606483 {source="Orphanet:100043", source="MONDO:equivalentTo", source="DOID:0110202", source="ORDO:100043/e"} +xref: OMIM:606483 {source="Orphanet:100043", source="MONDO:equivalentTo", source="Orphanet:100043/e", source="DOID:0110202"} xref: Orphanet:100043 {source="MONDO:equivalentTo", source="OMIM:606483", source="DOID:0110202"} xref: SCTID:765744006 {source="MONDO:equivalentTo"} xref: UMLS:C1847896 {source="Orphanet:100043", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606483"} @@ -230284,12 +230212,12 @@ synonym: "PHACE association" RELATED [OMIM:606519] synonym: "Phaces association" RELATED [OMIM:606519] synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338] xref: GARD:0008338 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q28.8 {source="Orphanet:42775", source="ORDO:42775/attributed", source="ORDO:42775/ntbt"} -xref: MedDRA:10068032 {source="ORDO:42775/e", source="Orphanet:42775"} -xref: OMIM:606519 {source="ORDO:42775/e", source="Orphanet:42775", source="MONDO:equivalentTo"} +xref: ICD10CM:Q28.8 {source="Orphanet:42775", source="Orphanet:42775/attributed", source="Orphanet:42775/ntbt"} +xref: MedDRA:10068032 {source="Orphanet:42775", source="Orphanet:42775/e"} +xref: OMIM:606519 {source="Orphanet:42775", source="MONDO:equivalentTo", source="Orphanet:42775/e"} xref: Orphanet:42775 {source="MONDO:equivalentTo", source="OMIM:606519"} xref: UMLS:C1847874 {source="Orphanet:42775", source="MONDO:equivalentTo", source="OMIM:606519"} -xref: UMLS:C2242617 {source="ORDO:42775/e", source="Orphanet:42775", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2242617 {source="Orphanet:42775", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:42775/e"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015160 {source="Orphanet:42775", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0020022 ! central nervous system malformation @@ -230368,9 +230296,9 @@ xref: Orphanet:79394 {source="MONDO:subClassOf", source="OMIM:606545"} xref: UMLS:C1847849 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3539888 {source="OMIM:606545", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:606545", source="indirect"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0017267 {source="ORDO:281122/btnt"} ! self-healing collodion baby -is_a: MONDO:0017778 {source="ORDO:313/btnt"} ! lamellar ichthyosis -is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma +is_a: MONDO:0017267 {source="Orphanet:281122/btnt"} ! self-healing collodion baby +is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis +is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13743 ! ALOXE3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13743 {source="mim2gene_medgen"} ! ALOXE3 @@ -230390,9 +230318,9 @@ synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical, OMIM:606552] synonym: "PATX" EXACT ABBREVIATION [Orphanet:79136] synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:79136] xref: DOID:0050992 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:79136/attributed", source="ORDO:79136/ntbt", source="Orphanet:79136"} +xref: ICD10CM:G11.8 {source="Orphanet:79136/attributed", source="Orphanet:79136/ntbt", source="Orphanet:79136"} xref: MESH:C564698 {source="MONDO:equivalentTo"} -xref: OMIM:606552 {source="DOID:0050992", source="MONDO:equivalentTo", source="ORDO:79136/e", source="Orphanet:79136"} +xref: OMIM:606552 {source="DOID:0050992", source="Orphanet:79136/e", source="MONDO:equivalentTo", source="Orphanet:79136"} xref: Orphanet:79136 {source="MONDO:equivalentTo", source="OMIM:606552"} xref: SCTID:718754008 {source="MONDO:equivalentTo"} xref: UMLS:C1847843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606552", source="Orphanet:79136"} @@ -230409,9 +230337,9 @@ synonym: "EA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606554] synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical, OMIM:606554] synonym: "episodic ataxia-vertigo-tinnitus-myokymia syndrome" EXACT [Orphanet:79135] xref: DOID:0050991 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:79135/attributed", source="ORDO:79135/ntbt", source="Orphanet:79135"} +xref: ICD10CM:G11.8 {source="Orphanet:79135/attributed", source="Orphanet:79135/ntbt", source="Orphanet:79135"} xref: MESH:C564697 {source="MONDO:equivalentTo"} -xref: OMIM:606554 {source="DOID:0050991", source="MONDO:equivalentTo", source="ORDO:79135/e", source="Orphanet:79135"} +xref: OMIM:606554 {source="DOID:0050991", source="Orphanet:79135/e", source="MONDO:equivalentTo", source="Orphanet:79135"} xref: Orphanet:79135 {source="MONDO:equivalentTo", source="OMIM:606554"} xref: SCTID:718755009 {source="MONDO:equivalentTo"} xref: UMLS:C1847839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79135", source="OMIM:606554"} @@ -230431,9 +230359,9 @@ synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098] synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574] synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070098 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:79435", source="ORDO:79435/attributed", source="ORDO:79435/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:79435", source="Orphanet:79435/attributed", source="Orphanet:79435/ntbt"} xref: MESH:C564696 {source="MONDO:equivalentTo"} -xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="ORDO:79435/e"} +xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="Orphanet:79435/e"} xref: Orphanet:79435 {source="MONDO:equivalentTo", source="OMIM:606574"} xref: SCTID:715632003 {source="MONDO:equivalentTo"} xref: UMLS:C1847836 {source="Orphanet:79435", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606574"} @@ -230480,10 +230408,10 @@ synonym: "DNA ligase IV deficiency" EXACT CLINGEN_PREFERRED [Orphanet:99812] synonym: "LIG4 syndrome" EXACT [DOID:0060021, OMIM:606593] synonym: "ligase 4 syndrome" EXACT [Orphanet:99812] xref: DOID:0060021 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.1 {source="Orphanet:99812", source="ORDO:99812/attributed", source="ORDO:99812/ntbt"} +xref: ICD10CM:D81.1 {source="Orphanet:99812/attributed", source="Orphanet:99812/ntbt", source="Orphanet:99812"} xref: MESH:C564694 {source="MONDO:equivalentTo"} xref: NCIT:C122657 {source="MONDO:equivalentTo"} -xref: OMIM:606593 {source="DOID:0060021", source="ORDO:99812/e", source="Orphanet:99812", source="MONDO:equivalentTo"} +xref: OMIM:606593 {source="DOID:0060021", source="Orphanet:99812", source="MONDO:equivalentTo", source="Orphanet:99812/e"} xref: Orphanet:99812 {source="MONDO:equivalentTo", source="OMIM:606593"} xref: SCTID:724177005 {source="MONDO:equivalentTo"} xref: UMLS:C1847827 {source="Orphanet:99812", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606593", source="NCIT:C122657"} @@ -230518,9 +230446,9 @@ synonym: "CMT2F" EXACT ABBREVIATION [DOID:0110163, MONDO:Lexical, OMIM:606595, O synonym: "HSPB1 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110163 {source="MONDO:equivalentTo"} xref: GARD:0009194 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99940", source="DOID:0110163", source="ORDO:99940/attributed", source="ORDO:99940/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:99940", source="Orphanet:99940/attributed", source="Orphanet:99940/ntbt", source="DOID:0110163"} xref: MESH:C535413 {source="MONDO:equivalentTo"} -xref: OMIM:606595 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="DOID:0110163", source="ORDO:99940/e"} +xref: OMIM:606595 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="Orphanet:99940/e", source="DOID:0110163"} xref: Orphanet:99940 {source="GARD:0009194", source="MONDO:equivalentTo", source="DOID:0110163", source="OMIM:606595"} xref: SCTID:719510006 {source="MONDO:equivalentTo"} xref: UMLS:C1847823 {source="Orphanet:99940", source="GARD:0009194", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606595"} @@ -230642,9 +230570,9 @@ synonym: "spinocerebellar ataxia type 15" EXACT [MONDORULE:2, OMIM:606658] synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299] xref: DOID:0050965 {source="MONDO:equivalentTo"} xref: GARD:0010477 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="ORDO:98769/attributed", source="ORDO:98769/ntbt", source="Orphanet:98769"} +xref: ICD10CM:G11.2 {source="Orphanet:98769", source="Orphanet:98769/attributed", source="Orphanet:98769/ntbt"} xref: MESH:C564685 {source="MONDO:equivalentTo"} -xref: OMIM:606658 {source="ORDO:98769/e", source="MONDO:equivalentTo", source="DOID:0050965"} +xref: OMIM:606658 {source="MONDO:equivalentTo", source="DOID:0050965", source="Orphanet:98769/e"} xref: Orphanet:98769 {source="MONDO:equivalentTo"} xref: Orphanet:98770 {source="MONDO:cjm", source="MONDO:relatedTo"} xref: SCTID:716724006 {source="MONDO:equivalentTo"} @@ -230713,8 +230641,8 @@ synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXAC synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphanet:289891] xref: DOID:0111037 {source="MONDO:equivalentTo"} xref: GARD:0010764 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="ORDO:289891/attributed", source="ORDO:289891/ntbt", source="Orphanet:289891", source="DOID:0111037"} -xref: OMIM:606664 {source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037", source="ORDO:289891/e"} +xref: ICD10CM:E72.1 {source="Orphanet:289891/attributed", source="Orphanet:289891/ntbt", source="Orphanet:289891", source="DOID:0111037"} +xref: OMIM:606664 {source="Orphanet:289891/e", source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037"} xref: Orphanet:289891 {source="MONDO:equivalentTo", source="OMIM:606664", source="DOID:0111037"} xref: SCTID:763720007 {source="MONDO:equivalentTo"} xref: UMLS:C1847720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606664", source="Orphanet:289891"} @@ -230863,12 +230791,12 @@ synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [OMI synonym: "Parkinson disease type 9" RELATED [GARD:0009174] xref: DOID:0060556 {source="MONDO:equivalentTo"} xref: GARD:0009174 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G23.0 {source="ORDO:306674/attributed", source="ORDO:306674/ntbt", source="Orphanet:306674"} +xref: ICD10CM:G23.0 {source="Orphanet:306674/attributed", source="Orphanet:306674/ntbt", source="Orphanet:306674"} xref: MESH:C537177 {source="DOID:0060556", source="MONDO:equivalentTo"} -xref: OMIM:606693 {source="DOID:0060556", source="MONDO:equivalentTo", source="ORDO:306674/e", source="Orphanet:306674"} +xref: OMIM:606693 {source="Orphanet:306674/e", source="DOID:0060556", source="MONDO:equivalentTo", source="Orphanet:306674"} xref: Orphanet:306674 {source="DOID:0060556", source="MONDO:equivalentTo", source="OMIM:606693"} xref: Orphanet:314632 {source="MONDO:superClassOf", source="OMIM:606693"} -xref: UMLS:C1847640 {source="NCBI:mim2gene_medline", source="DOID:0060556", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606693", source="ORDO:306674/e", source="Orphanet:306674"} +xref: UMLS:C1847640 {source="Orphanet:306674/e", source="NCBI:mim2gene_medline", source="DOID:0060556", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606693", source="Orphanet:306674"} xref: UMLS:C3715048 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:606693"} is_a: MONDO:0000828 {source="DOID:0060556"} ! juvenile-onset Parkinson disease is_a: MONDO:0005180 {source="DOID:0060556/inferred", source="MONDO:Redundant", source="OMIM:606693", source="indirect"} ! Parkinson disease @@ -230888,9 +230816,9 @@ synonym: "dyskinesia with orofacial involvement, autosomal dominant" EXACT [OMIM synonym: "dyskinesia, familial, with facial myokymia" RELATED [MONDO:Lexical, OMIM:606703] synonym: "FDFM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606703, Orphanet:324588] xref: GARD:0012722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G51.4 {source="MONDO:relatedTo", source="Orphanet:324588", source="ORDO:324588/attributed", source="ORDO:324588/ntbt"} +xref: ICD10CM:G51.4 {source="Orphanet:324588/attributed", source="Orphanet:324588/ntbt", source="MONDO:relatedTo", source="Orphanet:324588"} xref: MESH:C564676 {source="MONDO:equivalentTo"} -xref: OMIM:606703 {source="ORDO:324588/e", source="Orphanet:324588", source="MONDO:equivalentTo"} +xref: OMIM:606703 {source="Orphanet:324588", source="MONDO:equivalentTo", source="Orphanet:324588/e"} xref: Orphanet:324588 {source="OMIM:606703", source="MONDO:equivalentTo"} xref: SCTID:763352005 {source="MONDO:equivalentTo"} xref: UMLS:C1847627 {source="Orphanet:324588", source="OMIM:606703", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -230910,8 +230838,7 @@ synonym: "autosomal dominant deafness 36" NARROW [DOID:0110563] synonym: "autosomal dominant nonsyndromic deafness 36" NARROW [OMIM:606705] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 36" NARROW [DOID:0110563, MONDORULE:2] -synonym: "deafness, autosomal dominant 36" NARROW [OMIM:606705, OMIM:genemap2] -synonym: "deafness, autosomal dominant 36" NARROW [MONDO:Lexical, OMIM:606705] +synonym: "deafness, autosomal dominant 36" NARROW [MONDO:Lexical, OMIM:606705, OMIM:genemap2] synonym: "deafness, autosomal dominant type 36" NARROW [MONDORULE:2, OMIM:606705] synonym: "DFNA36" NARROW ABBREVIATION [DOID:0110563, MONDO:Lexical, OMIM:606705] synonym: "TMC1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -231003,7 +230930,7 @@ synonym: "melanoma-pancreatic cancer syndrome" EXACT CLINGEN_PREFERRED [OMIM:606 xref: OMIM:606719 {source="MONDO:equivalentTo"} xref: Orphanet:404560 {source="MONDO:subClassOf", source="OMIM:606719"} xref: UMLS:C1838547 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606719"} -is_a: MONDO:0018453 {source="ORDO:404560/btnt"} ! familial atypical multiple mole melanoma syndrome +is_a: MONDO:0018453 {source="Orphanet:404560/btnt"} ! familial atypical multiple mole melanoma syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1787 {source="mim2gene_medgen"} ! CDKN2A property_value: confidence "1.6325000000000003" xsd:double @@ -231090,10 +231017,10 @@ synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT CLINGEN_PREFERRED [OMIM synonym: "hyperinsulinism/hyperammonemia syndrome" EXACT [NCIT:C131832] xref: DOID:0070217 {source="MONDO:equivalentTo"} xref: GARD:0009931 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="Orphanet:35878", source="ORDO:35878/attributed", source="ORDO:35878/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:35878", source="Orphanet:35878/attributed", source="Orphanet:35878/ntbt"} xref: MESH:C538375 {source="MONDO:equivalentTo"} xref: NCIT:C131832 {source="MONDO:equivalentTo"} -xref: OMIM:606762 {source="ORDO:35878/e", source="Orphanet:35878", source="MONDO:equivalentTo"} +xref: OMIM:606762 {source="Orphanet:35878", source="MONDO:equivalentTo", source="Orphanet:35878/e"} xref: Orphanet:35878 {source="MONDO:equivalentTo", source="OMIM:606762"} xref: UMLS:C1847555 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606762"} is_a: MONDO:0001933 {source="NCIT:C131832", source="indirect"} ! endocrine pancreas disorder @@ -231144,17 +231071,17 @@ synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890] synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868] xref: DOID:9253 {source="MONDO:equivalentTo"} xref: GARD:0008598 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C26.9 {source="ORDO:44890/attributed", source="ORDO:44890/ntbt", source="Orphanet:44890"} +xref: ICD10CM:C26.9 {source="Orphanet:44890", source="Orphanet:44890/attributed", source="Orphanet:44890/ntbt"} xref: ICDO:8936/1 {source="NCIT:C3868"} -xref: MedDRA:10051066 {source="ORDO:44890/e", source="Orphanet:44890"} -xref: MESH:D046152 {source="MONDO:equivalentTo", source="ORDO:44890/e", source="Orphanet:44890", source="DOID:9253"} +xref: MedDRA:10051066 {source="Orphanet:44890/e", source="Orphanet:44890"} +xref: MESH:D046152 {source="Orphanet:44890/e", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253"} xref: NCIT:C3868 {source="MONDO:equivalentTo", source="DOID:9253"} -xref: OMIM:606764 {source="MONDO:equivalentTo", source="ORDO:44890/e", source="Orphanet:44890", source="DOID:9253"} +xref: OMIM:606764 {source="Orphanet:44890/e", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253"} xref: ONCOTREE:GIST {source="MONDO:equivalentTo"} xref: Orphanet:44890 {source="OMIM:606764", source="MONDO:equivalentTo"} xref: SCTID:128755003 {source="DOID:9253"} xref: SCTID:420120006 {source="MONDO:equivalentTo", source="DOID:9253"} -xref: UMLS:C0238198 {source="OMIM:606764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:44890/e", source="Orphanet:44890", source="DOID:9253", source="NCIT:C3868"} +xref: UMLS:C0238198 {source="Orphanet:44890/e", source="OMIM:606764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253", source="NCIT:C3868"} xref: UMLS:C3179349 {source="MONDO:equivalentTo", source="Orphanet:44890"} is_a: MONDO:0017128 {source="Orphanet:44890"} ! inherited digestive tract tumor is_a: MONDO:0018506 {source="Orphanet:44890"} ! mesenchymal tumor of small intestine @@ -231176,7 +231103,7 @@ xref: OMIM:606766 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="MONDO:subClassOf", source="OMIM:606766"} xref: UMLS:C1847540 {source="OMIM:606766", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:606766", source="MESH:C564665", source="MONDO:Redundant", source="OMIM:606766"} ! azoospermia -is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder +is_a: MONDO:0017173 {source="Orphanet:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 ! SLC26A8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 {source="mim2gene_medgen"} ! SLC26A8 @@ -231190,9 +231117,9 @@ synonym: "distal anterior compartment myopathy" EXACT [Orphanet:178400] synonym: "DMAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606768] synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, OMIM:606768] xref: DOID:0111187 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:178400", source="ORDO:178400/attributed", source="ORDO:178400/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:178400/attributed", source="Orphanet:178400/ntbt", source="Orphanet:178400"} xref: MESH:C564664 {source="MONDO:equivalentTo"} -xref: OMIM:606768 {source="ORDO:178400/e", source="Orphanet:178400", source="MONDO:equivalentTo"} +xref: OMIM:606768 {source="Orphanet:178400", source="MONDO:equivalentTo", source="Orphanet:178400/e"} xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"} xref: UMLS:C1847532 {source="NCBI:mim2gene_medline", source="OMIM:606768", source="Orphanet:178400", source="MONDO:equivalentTo"} is_a: MONDO:0016109 {source="Orphanet:178400"} ! autosomal recessive distal myopathy @@ -231209,9 +231136,9 @@ synonym: "intellectual disability, obesity, mandibular prognathism, and eye and synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED DEPRECATED [OMIM:606772] synonym: "MOMES syndrome" EXACT [Orphanet:397973] synonym: "Momes syndrome" RELATED [OMIM:606772] -xref: ICD10CM:Q87.8 {source="ORDO:397973/attributed", source="ORDO:397973/ntbt", source="Orphanet:397973"} +xref: ICD10CM:Q87.8 {source="Orphanet:397973", source="Orphanet:397973/attributed", source="Orphanet:397973/ntbt"} xref: MESH:C564660 {source="MONDO:equivalentTo"} -xref: OMIM:606772 {source="ORDO:397973/e", source="MONDO:equivalentTo", source="Orphanet:397973"} +xref: OMIM:606772 {source="MONDO:equivalentTo", source="Orphanet:397973", source="Orphanet:397973/e"} xref: Orphanet:397973 {source="MONDO:equivalentTo", source="OMIM:606772"} xref: UMLS:C1847522 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:397973", source="OMIM:606772"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397973", source="indirect"} ! syndromic intellectual disability @@ -231230,13 +231157,13 @@ synonym: "hemifacial myohyperplasia" EXACT [MONDO:Lexical, OMIM:606773] synonym: "HMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606773] synonym: "hypertrophy and asymmetry of the facial muscles" RELATED [GARD:0010084] xref: GARD:0010084 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q67.4 {source="ORDO:141148/ntbt", source="Orphanet:141148"} +xref: ICD10CM:Q67.4 {source="Orphanet:141148", source="Orphanet:141148/ntbt"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535862 {source="MONDO:equivalentTo", source="Orphanet:141148", source="ORDO:141148/e"} -xref: OMIM:606773 {source="MONDO:equivalentTo", source="Orphanet:141148", source="ORDO:141148/e"} +xref: MESH:C535862 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"} +xref: OMIM:606773 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"} xref: Orphanet:141148 {source="MONDO:equivalentTo", source="OMIM:606773"} xref: SCTID:699420006 {source="MONDO:equivalentTo"} -xref: UMLS:C1847521 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141148", source="ORDO:141148/e", source="OMIM:606773"} +xref: UMLS:C1847521 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141148", source="Orphanet:141148/e", source="OMIM:606773"} is_a: MONDO:0019716 {source="Orphanet:141148"} ! overgrowth syndrome relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:141148"} ! macroglossia property_value: confidence "8.375" xsd:double @@ -231270,9 +231197,9 @@ synonym: "GLUT1-DS" EXACT [Orphanet:71277] synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical, OMIM:606777] xref: EFO:0009139 {source="MONDO:equivalentTo"} xref: GARD:0009265 {source="MONDO:equivalentTo"} -xref: ICD10CM:G93.4 {source="Orphanet:71277", source="ORDO:71277/attributed", source="ORDO:71277/ntbt"} +xref: ICD10CM:G93.4 {source="Orphanet:71277/attributed", source="Orphanet:71277/ntbt", source="Orphanet:71277"} xref: MESH:C536830 {source="MONDO:equivalentTo"} -xref: OMIM:606777 {source="ORDO:71277/e", source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265"} +xref: OMIM:606777 {source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265", source="Orphanet:71277/e"} xref: Orphanet:71277 {source="OMIM:606777", source="MONDO:equivalentTo", source="GARD:0009265"} xref: UMLS:C1847501 {source="OMIM:606777", source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265"} xref: UMLS:C3149117 {source="OMIM:606777", source="MONDO:notFoundInDiseaseSubset"} @@ -231300,15 +231227,15 @@ synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [Orphanet:792 synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785] synonym: "UGT deficiency type 2" EXACT [Orphanet:79235] xref: GARD:0008683 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.5 {source="MONDO:subClassOf", source="ORDO:79235/attributed", source="ORDO:79235/ntbt", source="Orphanet:79235"} -xref: MedDRA:10011387 {source="ORDO:79235/e", source="Orphanet:79235"} -xref: MESH:C536213 {source="MONDO:equivalentTo", source="ORDO:79235/e", source="Orphanet:79235"} -xref: OMIM:606785 {source="MONDO:equivalentTo", source="ORDO:79235/e", source="Orphanet:79235"} +xref: ICD10CM:E80.5 {source="MONDO:subClassOf", source="Orphanet:79235/attributed", source="Orphanet:79235/ntbt", source="Orphanet:79235"} +xref: MedDRA:10011387 {source="Orphanet:79235/e", source="Orphanet:79235"} +xref: MESH:C536213 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} +xref: OMIM:606785 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} xref: Orphanet:205 {source="MONDO:subClassOf", source="OMIM:606785"} xref: Orphanet:79235 {source="MONDO:equivalentTo", source="OMIM:606785"} xref: SCTID:68067009 {source="MONDO:equivalentTo"} -xref: UMLS:C0268311 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79235/e", source="Orphanet:79235"} -xref: UMLS:C2931132 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79235/e", source="OMIM:606785", source="Orphanet:79235"} +xref: UMLS:C0268311 {source="Orphanet:79235/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79235"} +xref: UMLS:C2931132 {source="NCBI:mim2gene_medline", source="Orphanet:79235/e", source="MONDO:equivalentTo", source="OMIM:606785", source="Orphanet:79235"} is_a: MONDO:0002408 {source="MESH:C536213/inferred", source="MONDO:0011725/inferred", source="MONDO:Redundant", source="OMIM:606785", source="indirect"} ! hereditary hyperbilirubinemia is_a: MONDO:0009044 {source="MESH:C536213", source="Orphanet:79235", source="linkedlifedata"} ! Crigler-Najjar syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12530 {source="mim2gene_medgen"} ! UGT1A1 @@ -231392,14 +231319,14 @@ synonym: "fumarate hydratase deficiency" RELATED [GARD:0006476] synonym: "fumaric aciduria" EXACT [OMIM:606812] xref: DOID:0111261 {source="MONDO:equivalentTo"} xref: GARD:0006476 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.8 {source="Orphanet:24", source="ORDO:24/attributed", source="ORDO:24/ntbt"} +xref: ICD10CM:E88.8 {source="Orphanet:24/attributed", source="Orphanet:24/ntbt", source="Orphanet:24"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538191 {source="ORDO:24/e", source="Orphanet:24", source="MONDO:equivalentTo"} -xref: OMIM:606812 {source="ORDO:24/e", source="Orphanet:24", source="MONDO:equivalentTo"} +xref: MESH:C538191 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} +xref: OMIM:606812 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} xref: Orphanet:24 {source="OMIM:606812", source="MONDO:equivalentTo"} xref: SCTID:237983002 {source="MONDO:equivalentTo"} -xref: UMLS:C0342770 {source="ORDO:24/e", source="NCBI:mim2gene_medline", source="OMIM:606812", source="Orphanet:24", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2936826 {source="ORDO:24/e", source="OMIM:606812", source="Orphanet:24", source="MONDO:equivalentTo"} +xref: UMLS:C0342770 {source="NCBI:mim2gene_medline", source="OMIM:606812", source="Orphanet:24", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:24/e"} +xref: UMLS:C2936826 {source="OMIM:606812", source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016790 {source="Orphanet:24"} ! tricarboxylic acid cycle disorder is_a: MONDO:0019058 {source="Orphanet:24"} ! neurometabolic disease @@ -231422,11 +231349,11 @@ synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical, OMIM:606824] synonym: "monosaccharide malabsorption" RELATED [OMIM:606824] synonym: "SGLT1 deficiency" EXACT [Orphanet:35710] xref: GARD:0006521 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.3 {source="Orphanet:35710", source="ORDO:35710/attributed", source="ORDO:35710/ntbt"} +xref: ICD10CM:E74.3 {source="Orphanet:35710", source="Orphanet:35710/attributed", source="Orphanet:35710/ntbt"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066388 {source="Orphanet:35710", source="ORDO:35710/e"} +xref: MedDRA:10066388 {source="Orphanet:35710", source="Orphanet:35710/e"} xref: MESH:C562602 {source="MONDO:equivalentTo"} -xref: OMIM:606824 {source="Orphanet:35710", source="MONDO:equivalentTo", source="ORDO:35710/e"} +xref: OMIM:606824 {source="Orphanet:35710", source="MONDO:equivalentTo", source="Orphanet:35710/e"} xref: Orphanet:35710 {source="OMIM:606824", source="MONDO:equivalentTo"} xref: SCTID:190749000 {source="MONDO:equivalentTo"} xref: UMLS:C0268186 {source="Orphanet:35710", source="OMIM:606824", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -231443,9 +231370,9 @@ def: "Familial digital arthropathy-brachydactyly is characterised by the associa subset: ordo_malformation_syndrome {source="Orphanet:85169"} synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical, OMIM:606835] synonym: "FDAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606835] -xref: ICD10CM:M06.8 {source="Orphanet:85169", source="ORDO:85169/attributed", source="ORDO:85169/ntbt"} +xref: ICD10CM:M06.8 {source="Orphanet:85169", source="Orphanet:85169/attributed", source="Orphanet:85169/ntbt"} xref: MESH:C564656 {source="MONDO:equivalentTo"} -xref: OMIM:606835 {source="ORDO:85169/e", source="Orphanet:85169", source="MONDO:equivalentTo"} +xref: OMIM:606835 {source="Orphanet:85169", source="MONDO:equivalentTo", source="Orphanet:85169/e"} xref: Orphanet:85169 {source="OMIM:606835", source="MONDO:equivalentTo"} xref: UMLS:C1847406 {source="Orphanet:85169", source="OMIM:606835", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018240 {source="Orphanet:85169"} ! TRPV4-related bone disorder @@ -231497,8 +231424,8 @@ synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical, OMIM: synonym: "type 3 hyper-IgM immunodeficiency" EXACT [DOID:0060023] xref: DOID:0060023 {source="MONDO:equivalentTo"} xref: GARD:0010579 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.5 {source="ORDO:101090/attributed", source="ORDO:101090/ntbt", source="Orphanet:101090"} -xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="Orphanet:101090", source="ORDO:101090/e", source="GARD:0010579"} +xref: ICD10CM:D80.5 {source="Orphanet:101090", source="Orphanet:101090/attributed", source="Orphanet:101090/ntbt"} +xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="Orphanet:101090", source="GARD:0010579", source="Orphanet:101090/e"} xref: Orphanet:101090 {source="DOID:0060023", source="OMIM:606843", source="MONDO:equivalentTo", source="GARD:0010579"} xref: Orphanet:183663 {source="MONDO:subClassOf", source="OMIM:606843"} xref: UMLS:C1720957 {source="OMIM:606843", source="NCBI:mim2gene_medline", source="Orphanet:101090", source="MONDO:notFoundInDiseaseSubset", source="GARD:0010579"} @@ -231530,7 +231457,7 @@ xref: OMIM:606852 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="MONDO:subClassOf", source="OMIM:606852"} xref: UMLS:C1847360 {source="OMIM:606852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005180 {source="MESH:C564653", source="MONDO:Redundant", source="OMIM:606852", source="indirect"} ! Parkinson disease -is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease +is_a: MONDO:0017279 {source="Orphanet:2828/btnt"} ! young-onset Parkinson disease property_value: confidence "0.3096492687679333" xsd:double [Term] @@ -231544,10 +231471,10 @@ synonym: "bilateral frontoparietal polymicrogyria" EXACT CLINGEN_PREFERRED [] synonym: "cerebellar ataxia with neuronal migration defect" RELATED [OMIM:606854] synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM:606854] xref: GARD:0010784 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:101070/attributed", source="ORDO:101070/ntbt", source="Orphanet:101070"} +xref: ICD10CM:Q04.3 {source="Orphanet:101070", source="Orphanet:101070/attributed", source="Orphanet:101070/ntbt"} xref: MESH:C564652 {source="MONDO:equivalentTo"} xref: NCIT:C148367 {source="MONDO:equivalentTo"} -xref: OMIM:606854 {source="MONDO:equivalentTo", source="Orphanet:101070", source="ORDO:101070/e"} +xref: OMIM:606854 {source="MONDO:equivalentTo", source="Orphanet:101070", source="Orphanet:101070/e"} xref: Orphanet:101070 {source="OMIM:606854", source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:606854"} xref: UMLS:C1847352 {source="OMIM:606854", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101070"} @@ -231590,10 +231517,10 @@ synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864 synonym: "paraganglioma and gist" RELATED [GARD:0010643] xref: DOID:0080533 {source="MONDO:equivalentTo"} xref: GARD:0010643 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="ORDO:97286/attributed", source="ORDO:97286/ntbt", source="Orphanet:97286"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:97286/attributed", source="Orphanet:97286/ntbt", source="Orphanet:97286"} xref: MESH:C564650 {source="MONDO:equivalentTo"} xref: NCIT:C94831 {source="MONDO:equivalentTo"} -xref: OMIM:606864 {source="MONDO:equivalentTo", source="ORDO:97286/e", source="Orphanet:97286"} +xref: OMIM:606864 {source="Orphanet:97286/e", source="MONDO:equivalentTo", source="Orphanet:97286"} xref: Orphanet:97286 {source="OMIM:606864", source="MONDO:equivalentTo"} xref: SCTID:722377004 {source="MONDO:equivalentTo"} xref: UMLS:C1847319 {source="NCIT:C94831", source="OMIM:606864", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97286"} @@ -231646,7 +231573,7 @@ xref: NCIT:C123413 {source="MONDO:equivalentTo"} xref: OMIM:606889 {source="DOID:0110040", source="MONDO:equivalentTo"} xref: UMLS:C1847200 {source="NCBI:mim2gene_medline", source="OMIM:606889", source="MONDO:equivalentTo"} is_a: MONDO:0004975 {source="DOID:0110040", source="MESH:C536596", source="NCIT:C123413", source="indirect"} ! Alzheimer disease -is_a: MONDO:0015140 {source="ORDO:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -231661,9 +231588,9 @@ synonym: "intraosseous hemangioma" EXACT [Orphanet:140436] synonym: "osseous venous malformation" EXACT [Orphanet:140436] synonym: "vascular malformation osseous" RELATED [OMIM:606893] synonym: "vascular malformation, primary intraosseous" RELATED [OMIM:606893] -xref: ICD10CM:D18.0 {source="ORDO:140436/attributed", source="ORDO:140436/ntbt", source="Orphanet:140436"} +xref: ICD10CM:D18.0 {source="Orphanet:140436/attributed", source="Orphanet:140436/ntbt", source="Orphanet:140436"} xref: MESH:C564648 {source="MONDO:equivalentTo"} -xref: OMIM:606893 {source="MONDO:equivalentTo", source="ORDO:140436/e", source="Orphanet:140436"} +xref: OMIM:606893 {source="Orphanet:140436/e", source="MONDO:equivalentTo", source="Orphanet:140436"} xref: Orphanet:140436 {source="MONDO:equivalentTo", source="OMIM:606893"} xref: SCTID:764100007 {source="MONDO:equivalentTo"} xref: UMLS:C1847197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606893", source="Orphanet:140436"} @@ -231758,13 +231685,13 @@ synonym: "Yellow mutant albinism" RELATED [GARD:0000594] synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434] xref: DOID:0070095 {source="MONDO:equivalentTo"} xref: GARD:0000594 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:79434/attributed", source="ORDO:79434/ntbt", source="Orphanet:79434"} -xref: MESH:C537729 {source="MONDO:equivalentTo", source="ORDO:79434/e", source="Orphanet:79434"} -xref: OMIM:606952 {source="MONDO:equivalentTo", source="ORDO:79434/e", source="Orphanet:79434", source="DOID:0070095"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:79434/attributed", source="Orphanet:79434/ntbt", source="Orphanet:79434"} +xref: MESH:C537729 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434"} +xref: OMIM:606952 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434", source="DOID:0070095"} xref: Orphanet:352731 {source="MONDO:subClassOf", source="OMIM:606952"} xref: Orphanet:352737 {source="OMIM:606952", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: Orphanet:79434 {source="OMIM:606952", source="MONDO:equivalentTo"} -xref: UMLS:C1847024 {source="OMIM:606952", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79434/e", source="Orphanet:79434"} +xref: UMLS:C1847024 {source="OMIM:606952", source="Orphanet:79434/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79434"} xref: UMLS:C1847132 {source="OMIM:606952", source="MONDO:directSiblingOf"} is_a: MONDO:0018135 {source="Orphanet:79434", source="indirect"} ! oculocutaneous albinism type 1 is_a: MONDO:0018910 {source="DOID:0070095", source="MESH:C537729", source="MONDO:Redundant", source="OMIM:606952", source="Orphanet:79434/inferred"} ! oculocutaneous albinism @@ -231850,9 +231777,9 @@ synonym: "FHHA2" EXACT ABBREVIATION [Orphanet:99764] synonym: "Fhha2" RELATED [OMIM:606984] synonym: "hyperreninemic hypoaldosteronism, familial, 2" RELATED [OMIM:606984] synonym: "hyperreninemic hypoaldosteronism, familial, type 2" EXACT [MONDORULE:1, OMIM:606984] -xref: ICD10CM:E27.4 {source="Orphanet:99764", source="ORDO:99764/attributed", source="ORDO:99764/ntbt"} +xref: ICD10CM:E27.4 {source="Orphanet:99764", source="Orphanet:99764/attributed", source="Orphanet:99764/ntbt"} xref: MESH:C564638 {source="MONDO:equivalentTo"} -xref: OMIM:606984 {source="Orphanet:99764", source="MONDO:equivalentTo", source="ORDO:99764/e"} +xref: OMIM:606984 {source="Orphanet:99764", source="MONDO:equivalentTo", source="Orphanet:99764/e"} xref: Orphanet:427 {source="MONDO:subClassOf", source="OMIM:606984"} xref: Orphanet:99764 {source="OMIM:606984", source="MONDO:equivalentObsolete"} xref: UMLS:C1846990 {source="Orphanet:99764", source="OMIM:606984", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -231921,9 +231848,9 @@ synonym: "mucopolysaccharidosis type 1H" EXACT [OMIM:607014, Orphanet:93473] synonym: "mucopolysaccharidosis type IH" EXACT [Orphanet:93473] xref: DOID:0111390 {source="MONDO:equivalentTo"} xref: GARD:0012559 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E76.0 {source="Orphanet:93473", source="ORDO:93473/attributed", source="ORDO:93473/ntbt"} +xref: ICD10CM:E76.0 {source="Orphanet:93473/attributed", source="Orphanet:93473/ntbt", source="Orphanet:93473"} xref: NCIT:C61261 {source="MONDO:equivalentTo"} -xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source="ORDO:93473/e"} +xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source="Orphanet:93473/e"} xref: Orphanet:579 {source="MONDO:subClassOf", source="OMIM:607014"} xref: Orphanet:93473 {source="MONDO:equivalentTo", source="OMIM:607014"} xref: UMLS:C0086795 {source="Orphanet:93473", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C61261", source="OMIM:607014"} @@ -231960,14 +231887,14 @@ synonym: "Scheie disease mps type 1s" RELATED [] synonym: "Scheie's syndrome" RELATED [] xref: DOID:0111389 {source="MONDO:equivalentTo"} xref: GARD:0012560 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E76.0 {source="Orphanet:93476", source="ORDO:93476/attributed", source="ORDO:93476/ntbt"} -xref: MedDRA:10056916 {source="ORDO:93476/e", source="Orphanet:93476"} +xref: ICD10CM:E76.0 {source="Orphanet:93476/attributed", source="Orphanet:93476/ntbt", source="Orphanet:93476"} +xref: MedDRA:10056916 {source="Orphanet:93476", source="Orphanet:93476/e"} xref: NCIT:C122782 {source="MONDO:equivalentTo"} -xref: OMIM:607015 {source="ORDO:93476/e", source="Orphanet:93476", source="MONDO:equivalentTo"} +xref: OMIM:607015 {source="Orphanet:93476", source="MONDO:equivalentTo", source="Orphanet:93476/e"} xref: Orphanet:579 {source="MONDO:subClassOf", source="OMIM:607015"} xref: Orphanet:93476 {source="MONDO:equivalentTo", source="OMIM:607015"} xref: SCTID:73123008 {source="MONDO:equivalentTo"} -xref: UMLS:C0086431 {source="ORDO:93476/e", source="Orphanet:93476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122782", source="OMIM:607015"} +xref: UMLS:C0086431 {source="Orphanet:93476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C122782", source="Orphanet:93476/e", source="OMIM:607015"} is_a: MONDO:0001586 {source="NCIT:C122782", source="Orphanet:93476", source="linkedlifedata"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease disjoint_from: MONDO:0011760 ! Scheie syndrome @@ -231994,9 +231921,9 @@ synonym: "mucopolysaccharidosis type V, formerly" RELATED [OMIM:607016] synonym: "Scheie syndrome" EXACT CLINGEN_PREFERRED [OMIM:607016] xref: DOID:0060222 {source="MONDO:equivalentTo"} xref: GARD:0012561 {source="MONDO:equivalentTo"} -xref: ICD10CM:E76.0 {source="DOID:0060222", source="Orphanet:93474", source="ORDO:93474/attributed", source="ORDO:93474/ntbt"} +xref: ICD10CM:E76.0 {source="DOID:0060222", source="Orphanet:93474", source="Orphanet:93474/attributed", source="Orphanet:93474/ntbt"} xref: NCIT:C61265 {source="MONDO:equivalentTo"} -xref: OMIM:607016 {source="ORDO:93474/e", source="DOID:0060222", source="Orphanet:93474", source="MONDO:equivalentTo"} +xref: OMIM:607016 {source="DOID:0060222", source="Orphanet:93474", source="MONDO:equivalentTo", source="Orphanet:93474/e"} xref: Orphanet:579 {source="MONDO:subClassOf", source="OMIM:607016"} xref: Orphanet:93474 {source="DOID:0060222", source="MONDO:equivalentTo", source="OMIM:607016"} xref: UMLS:C0026708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C61265", source="OMIM:607016"} @@ -232013,8 +231940,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 21" NARROW [DOID:0110551] synonym: "autosomal dominant nonsyndromic deafness 21" NARROW [OMIM:607017] synonym: "autosomal dominant nonsyndromic deafness type 21" NARROW [DOID:0110551, MONDORULE:2] -synonym: "deafness, autosomal dominant 21" NARROW [OMIM:607017, OMIM:genemap2] -synonym: "deafness, autosomal dominant 21" NARROW [MONDO:Lexical, OMIM:607017] +synonym: "deafness, autosomal dominant 21" NARROW [MONDO:Lexical, OMIM:607017, OMIM:genemap2] synonym: "DFNA21" NARROW ABBREVIATION [DOID:0110551, MONDO:Lexical, OMIM:607017] xref: DOID:0110551 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110551"} @@ -232033,8 +231959,7 @@ synonym: "autosomal recessive deafness 22" NARROW [DOID:0110480] synonym: "autosomal recessive nonsyndromic deafness 22" NARROW CLINGEN_PREFERRED [OMIM:607039] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOA" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 22" NARROW [DOID:0110480, MONDORULE:2] -synonym: "deafness, autosomal recessive 22" NARROW [MONDO:Lexical, OMIM:607039] -synonym: "deafness, autosomal recessive 22" NARROW [OMIM:607039, OMIM:genemap2] +synonym: "deafness, autosomal recessive 22" NARROW [MONDO:Lexical, OMIM:607039, OMIM:genemap2] synonym: "deafness, autosomal recessive type 22" NARROW [MONDORULE:2, OMIM:607039] synonym: "DFNB22" NARROW ABBREVIATION [DOID:0110480, MONDO:Lexical, OMIM:607039] synonym: "OTOA autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -232106,12 +232031,12 @@ synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [OMIM:607078] synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311] xref: DOID:0070299 {source="MONDO:equivalentTo"} xref: GARD:0009794 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93311", source="ORDO:93311/attributed", source="ORDO:93311/ntbt"} -xref: MESH:C535505 {source="ORDO:93311/e", source="Orphanet:93311", source="MONDO:equivalentTo"} -xref: OMIM:607078 {source="ORDO:93311/e", source="Orphanet:93311", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.3 {source="Orphanet:93311/attributed", source="Orphanet:93311/ntbt", source="MONDO:relatedTo", source="Orphanet:93311"} +xref: MESH:C535505 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} +xref: OMIM:607078 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} xref: Orphanet:93311 {source="MONDO:equivalentTo", source="OMIM:607078"} xref: SCTID:715674008 {source="MONDO:equivalentTo"} -xref: UMLS:C1846843 {source="ORDO:93311/e", source="Orphanet:93311", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607078"} +xref: UMLS:C1846843 {source="Orphanet:93311", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607078", source="Orphanet:93311/e"} xref: UMLS:C4275060 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="DC-OMIM:607078", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311", source="linkedlifedata"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia @@ -232125,9 +232050,9 @@ name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome subset: ordo_malformation_syndrome {source="Orphanet:168563"} synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [OMIM:607080] synonym: "46XY gonadal dysgenesis with minifascicular neuropathy" EXACT [OMIM:607080, OMIM:genemap2] -xref: ICD10CM:Q56.1 {source="Orphanet:168563", source="ORDO:168563/attributed", source="ORDO:168563/ntbt"} +xref: ICD10CM:Q56.1 {source="Orphanet:168563", source="Orphanet:168563/attributed", source="Orphanet:168563/ntbt"} xref: MESH:C567773 {source="MONDO:equivalentTo"} -xref: OMIM:607080 {source="Orphanet:168563", source="ORDO:168563/e", source="MONDO:equivalentTo"} +xref: OMIM:607080 {source="Orphanet:168563", source="MONDO:equivalentTo", source="Orphanet:168563/e"} xref: Orphanet:168563 {source="OMIM:607080", source="MONDO:equivalentTo"} xref: UMLS:C2751325 {source="Orphanet:168563", source="OMIM:607080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005151 ! endocrine system disorder @@ -232148,8 +232073,7 @@ synonym: "autosomal recessive deafness 31" NARROW [DOID:0110490] synonym: "autosomal recessive nonsyndromic deafness 31" NARROW CLINGEN_PREFERRED [OMIM:607084] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in WHRN" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 31" NARROW [DOID:0110490, MONDORULE:2] -synonym: "deafness, autosomal recessive 31" NARROW [OMIM:607084, OMIM:genemap2] -synonym: "deafness, autosomal recessive 31" NARROW [MONDO:Lexical, OMIM:607084] +synonym: "deafness, autosomal recessive 31" NARROW [MONDO:Lexical, OMIM:607084, OMIM:genemap2] synonym: "deafness, autosomal recessive type 31" NARROW [MONDORULE:2, OMIM:607084] synonym: "DFNB31" NARROW ABBREVIATION [DOID:0110490, MONDO:Lexical, OMIM:607084] synonym: "whirler, mouse, homolog of" RELATED [OMIM:607084] @@ -232175,7 +232099,7 @@ xref: MESH:C564628 {source="MONDO:equivalentTo"} xref: OMIM:607085 {source="MONDO:equivalentTo"} xref: Orphanet:589 {source="MONDO:subClassOf", source="OMIM:607085"} xref: UMLS:C1846838 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607085"} -is_a: MONDO:0009688 {source="MESH:C564628", source="ORDO:589/btnt"} ! myasthenia gravis +is_a: MONDO:0009688 {source="MESH:C564628", source="Orphanet:589/btnt"} ! myasthenia gravis property_value: confidence "0.8888888888888891" xsd:double [Term] @@ -232195,7 +232119,7 @@ xref: MESH:C564627 {source="MONDO:equivalentTo"} xref: OMIM:607087 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:607087"} xref: UMLS:C1846837 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607087"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:607087", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:607087", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection property_value: confidence "0.014130103558823048" xsd:double [Term] @@ -232217,9 +232141,9 @@ synonym: "neuropathy, distal hereditary motor, type 4" RELATED [OMIM:607088] synonym: "spinal muscular atrophy, chronic distal, autosomal recessive" EXACT [OMIM:607088, OMIM:genemap2] synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:607088] xref: DOID:0111211 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139547", source="ORDO:139547/attributed", source="ORDO:139547/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139547", source="Orphanet:139547/attributed", source="Orphanet:139547/ntbt"} xref: MESH:C564626 {source="MONDO:equivalentTo"} -xref: OMIM:607088 {source="Orphanet:139547", source="ORDO:139547/e", source="MONDO:equivalentTo"} +xref: OMIM:607088 {source="Orphanet:139547", source="MONDO:equivalentTo", source="Orphanet:139547/e"} xref: Orphanet:139547 {source="MONDO:equivalentTo", source="OMIM:607088"} xref: UMLS:C1846823 {source="Orphanet:139547", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607088"} is_a: MONDO:0001516 {source="DC-OMIM:607088", source="MESH:C564626"} ! spinal muscular atrophy @@ -232246,9 +232170,9 @@ synonym: "congenital disorder of glycosylation type IId" EXACT [Orphanet:79332] synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical, OMIM:607091] xref: DOID:0070256 {source="MONDO:equivalentTo"} xref: GARD:0009841 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79332/attributed", source="ORDO:79332/ntbt", source="Orphanet:79332"} +xref: ICD10CM:E77.8 {source="Orphanet:79332/attributed", source="Orphanet:79332/ntbt", source="Orphanet:79332"} xref: MESH:C535753 {source="MONDO:equivalentTo"} -xref: OMIM:607091 {source="MONDO:equivalentTo", source="ORDO:79332/e", source="Orphanet:79332"} +xref: OMIM:607091 {source="Orphanet:79332/e", source="MONDO:equivalentTo", source="Orphanet:79332"} xref: Orphanet:79332 {source="OMIM:607091", source="MONDO:equivalentTo"} xref: SCTID:725587007 {source="MONDO:equivalentTo"} xref: UMLS:C1846816 {source="OMIM:607091", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -232285,13 +232209,13 @@ synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095 synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640] xref: DOID:0050640 {source="MONDO:equivalentTo"} xref: GARD:0009657 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:93347/attributed", source="ORDO:93347/ntbt", source="Orphanet:93347"} -xref: MESH:C538256 {source="ORDO:93347/e", source="MONDO:equivalentTo", source="Orphanet:93347"} -xref: OMIM:607095 {source="DOID:0050640", source="ORDO:93347/e", source="MONDO:superClassOf", source="Orphanet:93347"} +xref: ICD10CM:Q77.7 {source="Orphanet:93347", source="Orphanet:93347/attributed", source="Orphanet:93347/ntbt"} +xref: MESH:C538256 {source="MONDO:equivalentTo", source="Orphanet:93347", source="Orphanet:93347/e"} +xref: OMIM:607095 {source="DOID:0050640", source="MONDO:superClassOf", source="Orphanet:93347", source="Orphanet:93347/e"} xref: OMIM:617396 {source="MONDO:superClassOf", source="Orphanet:93347"} xref: OMIMPS:607095 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:93347 {source="MONDO:equivalentTo", source="OMIM:607095"} -xref: UMLS:C1846796 {source="ORDO:93347/e", source="MONDO:equivalentTo", source="OMIM:607095", source="Orphanet:93347"} +xref: UMLS:C1846796 {source="MONDO:equivalentTo", source="OMIM:607095", source="Orphanet:93347", source="Orphanet:93347/e"} xref: UMLS:CN029084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="DOID:0050640", source="Orphanet:93347"} ! spondyloepiphyseal dysplasia relationship: has_modifier MONDO:0021152 {source="OMIMPS:607095"} ! inherited @@ -232305,8 +232229,7 @@ synonym: "autosomal recessive deafness 30" NARROW [DOID:0110489] synonym: "autosomal recessive nonsyndromic deafness 30" NARROW CLINGEN_PREFERRED [OMIM:607101] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 30" NARROW [DOID:0110489, MONDORULE:2] -synonym: "deafness, autosomal recessive 30" NARROW [OMIM:607101, OMIM:genemap2] -synonym: "deafness, autosomal recessive 30" NARROW [MONDO:Lexical, OMIM:607101] +synonym: "deafness, autosomal recessive 30" NARROW [MONDO:Lexical, OMIM:607101, OMIM:genemap2] synonym: "deafness, autosomal recessive type 30" NARROW [MONDORULE:2, OMIM:607101] synonym: "DFNB30" NARROW ABBREVIATION [DOID:0110489, MONDO:Lexical, OMIM:607101] synonym: "MYO3A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -232373,10 +232296,10 @@ synonym: "Prieur Griscelli syndrome" RELATED [GARD:0001356] synonym: "Prieur-Griscelli syndrome" EXACT [DOID:0090029, Orphanet:1451] xref: DOID:0090029 {source="MONDO:equivalentTo"} xref: GARD:0001356 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E85.0 {source="Orphanet:1451", source="DOID:0090029", source="ORDO:1451/attributed", source="ORDO:1451/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:1451", source="Orphanet:1451/attributed", source="Orphanet:1451/ntbt", source="DOID:0090029"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C116380 {source="MONDO:equivalentTo"} -xref: OMIM:607115 {source="Orphanet:1451", source="ORDO:1451/e", source="MONDO:equivalentTo", source="DOID:0090029"} +xref: OMIM:607115 {source="Orphanet:1451", source="MONDO:equivalentTo", source="Orphanet:1451/e", source="DOID:0090029"} xref: Orphanet:1451 {source="MONDO:equivalentTo", source="DOID:0090029", source="OMIM:607115"} xref: SCTID:239826001 {source="MONDO:equivalentTo"} xref: UMLS:C0409818 {source="Orphanet:1451", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C116380", source="OMIM:607115"} @@ -232403,7 +232326,7 @@ xref: ICD10CM:G30 {source="MONDO:subClassOf", source="DOID:0110041"} xref: MESH:C564622 {source="MONDO:equivalentTo"} xref: OMIM:607116 {source="MONDO:equivalentTo", source="DOID:0110041"} xref: UMLS:C1846735 {source="OMIM:607116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql property_value: confidence "1.7975949917804632" xsd:double @@ -232418,9 +232341,9 @@ synonym: "Al-Gazali-Bakalinova syndrome" RELATED [OMIM:607131] synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [OMIM:607131] synonym: "Mmedf" RELATED [OMIM:607131] synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024] -xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="ORDO:166024/attributed", source="ORDO:166024/ntbt"} +xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="Orphanet:166024/attributed", source="Orphanet:166024/ntbt"} xref: MESH:C564621 {source="MONDO:equivalentTo"} -xref: OMIM:607131 {source="Orphanet:166024", source="ORDO:166024/e", source="MONDO:equivalentTo"} +xref: OMIM:607131 {source="Orphanet:166024", source="MONDO:equivalentTo", source="Orphanet:166024/e"} xref: Orphanet:166024 {source="MONDO:equivalentTo", source="OMIM:607131"} xref: SCTID:719688002 {source="MONDO:equivalentTo"} xref: UMLS:C1846722 {source="Orphanet:166024", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607131"} @@ -232469,11 +232392,11 @@ synonym: "spinocerebellar ataxia 17" EXACT [MONDO:Lexical, OMIM:607136] synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136] xref: DOID:0050967 {source="MONDO:equivalentTo"} xref: GARD:0010469 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:98759/attributed", source="ORDO:98759/ntbt", source="Orphanet:98759"} +xref: ICD10CM:G11.8 {source="Orphanet:98759", source="Orphanet:98759/attributed", source="Orphanet:98759/ntbt"} xref: MESH:C563505 {source="MONDO:equivalentTo"} xref: MESH:C564616 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: OMIM:164700 {source="MONDO:obsoleteEquivalento"} -xref: OMIM:607136 {source="ORDO:98759/e", source="MONDO:equivalentTo", source="Orphanet:98759", source="DOID:0050967"} +xref: OMIM:607136 {source="MONDO:equivalentTo", source="Orphanet:98759", source="DOID:0050967", source="Orphanet:98759/e"} xref: Orphanet:98759 {source="MONDO:equivalentTo", source="OMIM:607136"} xref: SCTID:719249005 {source="MONDO:equivalentTo"} xref: UMLS:C1833995 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164700"} @@ -232523,11 +232446,11 @@ synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical, synonym: "mannosyltransferase 8 deficiency" EXACT [Orphanet:79324] xref: DOID:0080559 {source="MONDO:equivalentTo"} xref: GARD:0009833 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79324/attributed", source="ORDO:79324/ntbt", source="Orphanet:79324"} +xref: ICD10CM:E77.8 {source="Orphanet:79324/attributed", source="Orphanet:79324/ntbt", source="Orphanet:79324"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535745 {source="MONDO:equivalentTo"} xref: NCIT:C126873 {source="MONDO:equivalentTo"} -xref: OMIM:607143 {source="MONDO:equivalentTo", source="ORDO:79324/e", source="Orphanet:79324"} +xref: OMIM:607143 {source="Orphanet:79324/e", source="MONDO:equivalentTo", source="Orphanet:79324"} xref: Orphanet:79324 {source="MONDO:equivalentTo", source="OMIM:607143"} xref: SCTID:711155008 {source="MONDO:equivalentTo"} xref: UMLS:C1846695 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -232574,12 +232497,12 @@ synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "SPG19" EXACT ABBREVIATION [DOID:0110772, MONDO:Lexical, OMIM:607152, Orphanet:100999] xref: DOID:0110772 {source="MONDO:equivalentTo"} xref: GARD:0009588 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100999/attributed", source="ORDO:100999/ntbt", source="Orphanet:100999", source="DOID:0110772"} -xref: MESH:C536856 {source="MONDO:equivalentTo", source="ORDO:100999/e", source="Orphanet:100999"} -xref: OMIM:607152 {source="MONDO:equivalentTo", source="ORDO:100999/e", source="Orphanet:100999", source="DOID:0110772"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100999/attributed", source="Orphanet:100999/ntbt", source="Orphanet:100999", source="DOID:0110772"} +xref: MESH:C536856 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999"} +xref: OMIM:607152 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999", source="DOID:0110772"} xref: Orphanet:100999 {source="MONDO:equivalentTo", source="OMIM:607152", source="DOID:0110772"} xref: SCTID:763375003 {source="MONDO:equivalentTo"} -xref: UMLS:C1846685 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:100999/e", source="OMIM:607152", source="Orphanet:100999"} +xref: UMLS:C1846685 {source="Orphanet:100999/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607152", source="Orphanet:100999"} is_a: MONDO:0015088 {source="Orphanet:100999"} ! autosomal dominant pure spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110772", source="MESH:C536856", source="MONDO:Redundant", source="OMIM:607152", source="Orphanet:100999/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double @@ -232641,10 +232564,10 @@ synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [OMIM:607155] xref: DOID:0110299 {source="MONDO:equivalentTo"} xref: GARD:0012533 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:34515", source="ORDO:34515/inclusion", source="ORDO:34515/ntbt", source="DOID:0110299"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:34515/inclusion", source="Orphanet:34515/ntbt", source="Orphanet:34515", source="DOID:0110299"} xref: MESH:C564612 {source="MONDO:equivalentTo"} xref: NCIT:C126739 {source="MONDO:equivalentTo"} -xref: OMIM:607155 {source="ORDO:34515/e", source="Orphanet:34515", source="MONDO:equivalentTo", source="DOID:0110299"} +xref: OMIM:607155 {source="Orphanet:34515", source="MONDO:equivalentTo", source="Orphanet:34515/e", source="DOID:0110299"} xref: Orphanet:34515 {source="MONDO:equivalentTo", source="OMIM:607155", source="DOID:0110299"} xref: SCTID:718180000 {source="MONDO:equivalentTo"} xref: UMLS:C1846672 {source="NCBI:mim2gene_medline", source="Orphanet:34515", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607155"} @@ -232667,9 +232590,9 @@ name: cloverleaf skull-multiple congenital anomalies syndrome def: "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." [Orphanet:93267] subset: ordo_malformation_syndrome {source="Orphanet:93267"} synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [OMIM:607161] -xref: ICD10CM:Q87.8 {source="Orphanet:93267", source="ORDO:93267/attributed", source="ORDO:93267/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:93267/attributed", source="Orphanet:93267/ntbt", source="Orphanet:93267"} xref: MESH:C564611 {source="MONDO:equivalentTo"} -xref: OMIM:607161 {source="ORDO:93267/e", source="Orphanet:93267", source="MONDO:equivalentTo"} +xref: OMIM:607161 {source="Orphanet:93267", source="MONDO:equivalentTo", source="Orphanet:93267/e"} xref: Orphanet:93267 {source="MONDO:equivalentTo", source="OMIM:607161"} xref: SCTID:717771007 {source="MONDO:equivalentTo"} xref: UMLS:C1846671 {source="Orphanet:93267", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607161"} @@ -232712,9 +232635,9 @@ synonym: "MCPHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607196] synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical, OMIM:607196] synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [OMIM:607196] xref: GARD:0008606 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q02 {source="Orphanet:99742", source="ORDO:99742/attributed", source="ORDO:99742/ntbt"} -xref: MESH:C538247 {source="Orphanet:99742", source="MONDO:equivalentTo", source="ORDO:99742/e"} -xref: OMIM:607196 {source="Orphanet:99742", source="MONDO:equivalentTo", source="ORDO:99742/e"} +xref: ICD10CM:Q02 {source="Orphanet:99742", source="Orphanet:99742/attributed", source="Orphanet:99742/ntbt"} +xref: MESH:C538247 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"} +xref: OMIM:607196 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"} xref: Orphanet:99742 {source="MONDO:equivalentTo", source="OMIM:607196"} xref: SCTID:702437000 {source="MONDO:equivalentTo"} xref: UMLS:C1846648 {source="Orphanet:99742", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607196"} @@ -232747,7 +232670,7 @@ xref: MESH:C564608 {source="MONDO:equivalentTo"} xref: OMIM:607200 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:subClassOf", source="OMIM:607200"} xref: UMLS:C1846632 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607200"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13273 ! DUOX2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13273 {source="mim2gene_medgen"} ! DUOX2 @@ -232772,9 +232695,9 @@ name: obsolete Dravet syndrome def: "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." [Orphanet:33069] comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 subset: ordo_disease {source="Orphanet:33069"} -xref: ICD10CM:G40.4 {source="ORDO:33069/attributed", source="ORDO:33069/ntbt", source="Orphanet:33069"} -xref: OMIM:612164 {source="MONDO:superClassOf", source="ORDO:33069/btnt", source="Orphanet:33069"} -xref: OMIM:615744 {source="MONDO:superClassOf", source="ORDO:33069/btnt", source="Orphanet:33069"} +xref: ICD10CM:G40.4 {source="Orphanet:33069/attributed", source="Orphanet:33069/ntbt", source="Orphanet:33069"} +xref: OMIM:612164 {source="MONDO:superClassOf", source="Orphanet:33069/btnt", source="Orphanet:33069"} +xref: OMIM:615744 {source="MONDO:superClassOf", source="Orphanet:33069/btnt", source="Orphanet:33069"} xref: Orphanet:33069 {source="MONDO:obsoleteEquivalent", source="OMIM:607208"} property_value: confidence "6.200000000000001" xsd:double is_obsolete: true @@ -232792,13 +232715,13 @@ synonym: "Teebi-Kaurah syndrome" EXACT [Orphanet:1094] synonym: "total anonychia congenita and microcephaly" RELATED [GARD:0000709] synonym: "total anonychia with microcephaly" RELATED [GARD:0000709] xref: GARD:0000709 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1094/attributed", source="ORDO:1094/ntbt", source="Orphanet:1094"} -xref: MESH:C536948 {source="ORDO:1094/e", source="Orphanet:1094"} -xref: OMIM:607214 {source="GARD:0000709", source="MONDO:equivalentTo", source="ORDO:1094/e", source="Orphanet:1094"} +xref: ICD10CM:Q87.8 {source="Orphanet:1094/attributed", source="Orphanet:1094/ntbt", source="Orphanet:1094"} +xref: MESH:C536948 {source="Orphanet:1094/e", source="Orphanet:1094"} +xref: OMIM:607214 {source="GARD:0000709", source="Orphanet:1094/e", source="MONDO:equivalentTo", source="Orphanet:1094"} xref: Orphanet:1094 {source="MONDO:equivalentTo", source="OMIM:607214"} xref: SCTID:720494009 {source="MONDO:equivalentTo"} xref: UMLS:C1846617 {source="GARD:0000709", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607214"} -xref: UMLS:C2931373 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1094/e", source="Orphanet:1094"} +xref: UMLS:C2931373 {source="Orphanet:1094/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1094"} is_a: MONDO:0015161 {source="Orphanet:1094", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1094", source="Orphanet:1094/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:1094"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -232827,14 +232750,14 @@ synonym: "IAHSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607225, Orphanet:293168 synonym: "spastic paralysis, infantile onset ascending" RELATED [GARD:0004914] synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical, OMIM:607225] xref: GARD:0004914 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:293168/attributed", source="ORDO:293168/ntbt", source="Orphanet:293168"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:293168", source="Orphanet:293168/attributed", source="Orphanet:293168/ntbt"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537217 {source="MONDO:equivalentTo"} -xref: OMIM:607225 {source="MONDO:equivalentTo", source="Orphanet:293168", source="ORDO:293168/e"} +xref: OMIM:607225 {source="MONDO:equivalentTo", source="Orphanet:293168", source="Orphanet:293168/e"} xref: Orphanet:293168 {source="MONDO:equivalentTo", source="OMIM:607225"} xref: SCTID:703543005 {source="MONDO:equivalentTo"} xref: UMLS:C1846588 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931441 {source="MONDO:equivalentTo", source="Orphanet:293168", source="ORDO:293168/e", source="OMIM:607225"} +xref: UMLS:C2931441 {source="MONDO:equivalentTo", source="Orphanet:293168", source="OMIM:607225", source="Orphanet:293168/e"} is_a: MONDO:0020128 {source="Orphanet:293168", source="Orphanet:293168/inferred"} ! motor neuron disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/443 {source="mim2gene_medgen"} ! ALS2 relationship: has_modifier HP:0003593 ! Infantile onset @@ -232860,8 +232783,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 33" NARROW [DOID:0110492] synonym: "autosomal recessive nonsyndromic deafness 33" NARROW [OMIM:607239] synonym: "autosomal recessive nonsyndromic deafness type 33" NARROW [DOID:0110492, MONDORULE:2] -synonym: "deafness, autosomal recessive 33" NARROW [MONDO:Lexical, OMIM:607239] -synonym: "deafness, autosomal recessive 33" NARROW [OMIM:607239, OMIM:genemap2] +synonym: "deafness, autosomal recessive 33" NARROW [MONDO:Lexical, OMIM:607239, OMIM:genemap2] synonym: "DFNB33" NARROW ABBREVIATION [DOID:0110492, MONDO:Lexical, OMIM:607239] xref: DOID:0110492 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110492"} @@ -232900,9 +232822,9 @@ synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" xref: DOID:0090115 {source="MONDO:equivalentTo"} xref: GARD:0010000 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:10000 {source="DOID:0090115"} -xref: ICD10CM:G60.2 {source="Orphanet:94124", source="DOID:0090115", source="ORDO:94124/attributed", source="ORDO:94124/ntbt"} +xref: ICD10CM:G60.2 {source="Orphanet:94124/attributed", source="Orphanet:94124/ntbt", source="Orphanet:94124", source="DOID:0090115"} xref: MESH:C537313 {source="MONDO:equivalentTo"} -xref: OMIM:607250 {source="ORDO:94124/e", source="Orphanet:94124", source="MONDO:equivalentTo", source="DOID:0090115"} +xref: OMIM:607250 {source="Orphanet:94124", source="MONDO:equivalentTo", source="DOID:0090115", source="Orphanet:94124/e"} xref: Orphanet:94124 {source="MONDO:equivalentTo", source="OMIM:607250", source="DOID:0090115"} xref: SCTID:765091006 {source="MONDO:equivalentTo"} xref: UMLS:C1846574 {source="NCBI:mim2gene_medline", source="Orphanet:94124", source="MONDO:equivalentTo", source="OMIM:607250"} @@ -232923,7 +232845,7 @@ xref: MESH:C564600 {source="MONDO:equivalentTo"} xref: OMIM:607258 {source="MONDO:equivalentTo"} xref: Orphanet:2197 {source="MONDO:subClassOf", source="OMIM:607258"} xref: UMLS:C1846573 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607258"} -is_a: MONDO:0016352 {source="ORDO:2197/btnt"} ! idiopathic inherited hypercalciuria +is_a: MONDO:0016352 {source="Orphanet:2197/btnt"} ! idiopathic inherited hypercalciuria relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "29.33333333333344" xsd:double @@ -232944,9 +232866,9 @@ synonym: "SPG7" EXACT ABBREVIATION [DOID:0110816, MONDO:Lexical, OMIM:607259, Or synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110816 {source="MONDO:equivalentTo"} xref: GARD:0004927 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:99013/attributed", source="ORDO:99013/ntbt", source="DOID:0110816", source="Orphanet:99013"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:99013/attributed", source="Orphanet:99013/ntbt", source="DOID:0110816", source="Orphanet:99013"} xref: MESH:C564599 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:607259 {source="MONDO:equivalentTo", source="DOID:0110816", source="ORDO:99013/e", source="Orphanet:99013"} +xref: OMIM:607259 {source="Orphanet:99013/e", source="MONDO:equivalentTo", source="DOID:0110816", source="Orphanet:99013"} xref: Orphanet:99013 {source="OMIM:607259", source="MONDO:equivalentTo", source="DOID:0110816"} xref: SCTID:715776003 {source="MONDO:equivalentTo"} xref: UMLS:C1846564 {source="OMIM:607259", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99013"} @@ -232982,8 +232904,8 @@ synonym: "CEDS" EXACT ABBREVIATION [DOID:0110116, Orphanet:275517] synonym: "Ceds" RELATED [OMIM:607271] xref: DOID:0110116 {source="MONDO:equivalentTo"} xref: GARD:0009796 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D47.9 {source="DOID:0110116", source="Orphanet:275517", source="ORDO:275517/attributed", source="ORDO:275517/ntbt"} -xref: OMIM:607271 {source="DOID:0110116", source="MONDO:equivalentTo", source="Orphanet:275517", source="ORDO:275517/e"} +xref: ICD10CM:D47.9 {source="DOID:0110116", source="Orphanet:275517/attributed", source="Orphanet:275517/ntbt", source="Orphanet:275517"} +xref: OMIM:607271 {source="DOID:0110116", source="Orphanet:275517/e", source="MONDO:equivalentTo", source="Orphanet:275517"} xref: Orphanet:275517 {source="DOID:0110116", source="MONDO:equivalentTo", source="OMIM:607271"} xref: SCTID:722290008 {source="MONDO:equivalentTo"} xref: UMLS:C1846545 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607271", source="Orphanet:275517"} @@ -233075,7 +232997,7 @@ xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:607304"} xref: UMLS:C1846520 {source="OMIM:607304", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110233", source="MESH:C564596", source="MONDO:Redundant", source="OMIM:607304", source="indirect"} ! cataract is_a: MONDO:0011060 {source="PMID:12091400"} ! early-onset non-syndromic cataract -is_a: MONDO:0020376 {source="ORDO:98991/btnt", source="PMID:12091400"} ! early-onset nuclear cataract +is_a: MONDO:0020376 {source="Orphanet:98991/btnt", source="PMID:12091400"} ! early-onset nuclear cataract [Term] id: MONDO:0011809 @@ -233100,10 +233022,10 @@ synonym: "HGPPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607313, Orphanet:2744] synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:607313] synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744] xref: GARD:0012682 {source="MONDO:equivalentTo"} -xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="ORDO:2744/attributed", source="ORDO:2744/ntbt", source="Orphanet:2744"} +xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:2744", source="Orphanet:2744/attributed", source="Orphanet:2744/ntbt"} xref: ICD9:737.43 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564593 {source="MONDO:equivalentTo"} -xref: OMIM:607313 {source="Orphanet:2744", source="MONDO:superClassOf", source="ORDO:2744/e"} +xref: OMIM:607313 {source="Orphanet:2744", source="MONDO:superClassOf", source="Orphanet:2744/e"} xref: OMIMPS:607313 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2744 {source="MONDO:equivalentTo", source="OMIM:607313"} xref: SCTID:702381007 {source="MONDO:equivalentTo"} @@ -233131,9 +233053,9 @@ synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [OMIM:607317] synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:607317] xref: DOID:0111611 {source="MONDO:equivalentTo"} xref: GARD:0004952 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:95434", source="ORDO:95434/attributed", source="ORDO:95434/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:95434/attributed", source="Orphanet:95434/ntbt", source="Orphanet:95434"} xref: MESH:C537310 {source="MONDO:equivalentTo"} -xref: OMIM:607317 {source="ORDO:95434/e", source="Orphanet:95434", source="MONDO:equivalentTo"} +xref: OMIM:607317 {source="Orphanet:95434", source="MONDO:equivalentTo", source="Orphanet:95434/e"} xref: Orphanet:95434 {source="OMIM:607317", source="MONDO:equivalentTo"} xref: UMLS:C1846492 {source="OMIM:607317", source="Orphanet:95434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020047 {source="Orphanet:95434"} ! autosomal recessive syndromic cerebellar ataxia @@ -233155,14 +233077,14 @@ synonym: "Duane-radial ray syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMI synonym: "Okihiro syndrome" EXACT [DOID:0060747, GARD:0009182, OMIM:607323] xref: DOID:0060747 {source="MONDO:equivalentTo"} xref: GARD:0009182 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:93293/attributed", source="ORDO:93293/ntbt", source="ORDO:959/attributed", source="ORDO:959/ntbt", source="Orphanet:959", source="DOID:0060747", source="Orphanet:93293"} +xref: ICD10CM:Q87.8 {source="Orphanet:93293/attributed", source="Orphanet:93293/ntbt", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/attributed", source="Orphanet:959/ntbt", source="Orphanet:93293"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:607323 {source="ORDO:959/ntbt", source="MONDO:equivalentTo", source="Orphanet:959", source="DOID:0060747", source="ORDO:93293/e", source="Orphanet:93293"} +xref: OMIM:607323 {source="Orphanet:93293/e", source="MONDO:equivalentTo", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/ntbt", source="Orphanet:93293"} xref: Orphanet:93293 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060747", source="OMIM:607323"} xref: Orphanet:959 {source="MONDO:equivalentTo"} xref: SCTID:699867001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:720415006 {source="MONDO:equivalentTo"} -xref: UMLS:C1623209 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93293/e", source="OMIM:607323", source="Orphanet:93293"} +xref: UMLS:C1623209 {source="NCBI:mim2gene_medline", source="Orphanet:93293/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607323", source="Orphanet:93293"} xref: UMLS:CN206803 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0060747", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015246 {source="Orphanet:93293"} ! syndromic anorectal malformation @@ -233186,7 +233108,7 @@ xref: MESH:C564590 {source="MONDO:equivalentTo"} xref: OMIM:607324 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="MONDO:subClassOf", source="OMIM:607324"} xref: UMLS:C1846452 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607324"} -is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A +is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A property_value: confidence "0.7021276595744683" xsd:double [Term] @@ -233234,12 +233156,12 @@ synonym: "lathosterolosis" EXACT [OMIM:607330] synonym: "Sc5D deficiency" RELATED [OMIM:607330] synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059] xref: GARD:0009711 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:46059/attributed", source="ORDO:46059/ntbt", source="Orphanet:46059"} -xref: MESH:C537880 {source="MONDO:equivalentTo", source="ORDO:46059/e", source="Orphanet:46059"} -xref: OMIM:607330 {source="MONDO:equivalentTo", source="ORDO:46059/e", source="Orphanet:46059"} +xref: ICD10CM:Q87.8 {source="Orphanet:46059/attributed", source="Orphanet:46059/ntbt", source="Orphanet:46059"} +xref: MESH:C537880 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} +xref: OMIM:607330 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} xref: Orphanet:46059 {source="MONDO:equivalentTo", source="OMIM:607330"} xref: SCTID:719257008 {source="MONDO:equivalentTo"} -xref: UMLS:C1846421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:46059/e", source="OMIM:607330", source="Orphanet:46059"} +xref: UMLS:C1846421 {source="NCBI:mim2gene_medline", source="Orphanet:46059/e", source="MONDO:equivalentTo", source="OMIM:607330", source="Orphanet:46059"} is_a: MONDO:0019240 {source="Orphanet:46059"} ! sterol biosynthesis disorder relationship: disease_has_basis_in_disruption_of GO:0033490 ! cholesterol biosynthetic process via lathosterol relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10547 {source="mim2gene_medgen"} ! SC5D @@ -233297,9 +233219,9 @@ synonym: "focal cortical dysplasia, type II" RELATED [OMIM:607341] synonym: "focal cortical dysplasia, type II, somatic" EXACT [OMIM:607341, OMIM:genemap2] synonym: "isolated focal cortical dysplasia type 2" EXACT [Orphanet:268994] xref: GARD:0010190 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="Orphanet:268994", source="ORDO:268994/attributed", source="ORDO:268994/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:268994/attributed", source="Orphanet:268994/ntbt", source="Orphanet:268994"} xref: MESH:C537067 {source="MONDO:equivalentTo"} -xref: OMIM:607341 {source="ORDO:268994/e", source="Orphanet:268994", source="MONDO:equivalentTo", source="GARD:0010190"} +xref: OMIM:607341 {source="Orphanet:268994", source="MONDO:equivalentTo", source="Orphanet:268994/e", source="GARD:0010190"} xref: Orphanet:268994 {source="MONDO:equivalentTo", source="OMIM:607341"} xref: Orphanet:269001 {source="MONDO:superClassOf", source="OMIM:607341"} xref: Orphanet:269008 {source="MONDO:superClassOf", source="OMIM:607341"} @@ -233327,14 +233249,14 @@ synonym: "spinocerebellar ataxia 22" RELATED [OMIM:607346] synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2, OMIM:607346] xref: DOID:0050970 {source="MONDO:equivalentTo"} xref: GARD:0012365 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G11.2 {source="ORDO:98772/attributed", source="ORDO:98772/ntbt", source="Orphanet:98772"} -xref: MESH:C537198 {source="MONDO:equivalentTo", source="ORDO:98772/e", source="Orphanet:98772"} +xref: ICD10CM:G11.2 {source="Orphanet:98772/attributed", source="Orphanet:98772/ntbt", source="Orphanet:98772"} +xref: MESH:C537198 {source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"} xref: MESH:C542540 {source="MONDO:equivalentTo"} -xref: OMIM:607346 {source="DOID:0050970", source="MONDO:equivalentTo", source="ORDO:98772/e", source="Orphanet:98772"} +xref: OMIM:607346 {source="DOID:0050970", source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"} xref: Orphanet:101107 {source="OMIM:607346"} xref: Orphanet:98772 {source="MONDO:equivalentTo", source="OMIM:607346"} xref: SCTID:719251009 {source="MONDO:equivalentTo"} -xref: UMLS:C1846367 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:98772/e", source="OMIM:607346", source="Orphanet:98772"} +xref: UMLS:C1846367 {source="Orphanet:98772/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607346", source="Orphanet:98772"} xref: UMLS:C2746067 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607346"} is_a: MONDO:0019792 {source="Orphanet:98772"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6239 {source="mim2gene_medgen"} ! KCND3 @@ -233395,8 +233317,8 @@ synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [OMIM:607364] synonym: "classic Bartter syndrome" EXACT [DOID:0110144] xref: DOID:0110144 {source="MONDO:equivalentTo"} xref: GARD:0009659 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E26.8 {source="ORDO:93605/attributed", source="ORDO:93605/ntbt", source="Orphanet:93605", source="DOID:0110144"} -xref: OMIM:607364 {source="MONDO:equivalentTo", source="ORDO:93605/e", source="Orphanet:93605", source="DOID:0110144"} +xref: ICD10CM:E26.8 {source="Orphanet:93605/attributed", source="Orphanet:93605/ntbt", source="Orphanet:93605", source="DOID:0110144"} +xref: OMIM:607364 {source="Orphanet:93605/e", source="MONDO:equivalentTo", source="Orphanet:93605", source="DOID:0110144"} xref: Orphanet:112 {source="MONDO:subClassOf", source="OMIM:607364"} xref: Orphanet:93605 {source="MONDO:equivalentTo", source="OMIM:607364"} xref: SCTID:700111000 {source="MONDO:equivalentTo"} @@ -233416,9 +233338,9 @@ synonym: "DJO" RELATED ABBREVIATION [MESH:C537704, MONDO:Lexical, OMIM:607371] synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical, OMIM:607371] synonym: "juvenile-onset dystonia" RELATED [GARD:0009818] xref: GARD:0009818 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:79107", source="ORDO:79107/attributed", source="ORDO:79107/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:79107/attributed", source="Orphanet:79107/ntbt", source="Orphanet:79107"} xref: MESH:C537704 {source="MONDO:equivalentTo"} -xref: OMIM:607371 {source="Orphanet:79107", source="GARD:0009818", source="MONDO:equivalentTo", source="ORDO:79107/e"} +xref: OMIM:607371 {source="Orphanet:79107", source="GARD:0009818", source="MONDO:equivalentTo", source="Orphanet:79107/e"} xref: Orphanet:79107 {source="MONDO:equivalentTo", source="OMIM:607371"} xref: UMLS:C1846331 {source="NCBI:mim2gene_medline", source="GARD:0009818", source="MONDO:equivalentTo", source="OMIM:607371"} is_a: MONDO:0015161 {source="Orphanet:79107", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -233469,7 +233391,7 @@ xref: NCIT:C123728 {source="MONDO:equivalentTo"} xref: OMIM:607398 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="MONDO:subClassOf", source="OMIM:607398"} xref: UMLS:C1846284 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:607398"} -is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:607398", source="ORDO:361/btnt"} ! familial glucocorticoid deficiency +is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:607398", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1304 ! MRAP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1304 {source="mim2gene_medgen"} ! MRAP @@ -233502,7 +233424,7 @@ xref: SCTID:83330001 {source="DOID:13832", source="MONDO:equivalentTo"} xref: UMLS:C0013274 {source="DOID:13832", source="NCIT:C84492", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607411"} is_a: MONDO:0005385 {source="NCIT:C84492", source="indirect", source="linkedlifedata/inferred"} ! vascular disorder is_a: MONDO:0005453 {source="DOID:13832", source="MESH:D004374"} ! congenital heart disease -is_a: MONDO:0018758 {source="ORDO:466729/btnt"} ! familial patent arterial duct +is_a: MONDO:0018758 {source="Orphanet:466729/btnt"} ! familial patent arterial duct relationship: has_modifier MONDO:0021152 {source="OMIMPS:607411"} ! inherited property_value: confidence "39.499999999999936" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus xsd:anyURI {source="GARD:0007342"} @@ -233547,7 +233469,7 @@ xref: OMIM:607426 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="MONDO:subClassOf", source="OMIM:607426"} xref: UMLS:C1843920 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C3551954 {source="OMIM:607426", source="MONDO:equivalentTo"} -is_a: MONDO:0016816 {source="ORDO:255249/btnt"} ! Leigh syndrome with nephrotic syndrome +is_a: MONDO:0016816 {source="Orphanet:255249/btnt"} ! Leigh syndrome with nephrotic syndrome is_a: MONDO:0018151 {source="MONDO:Redundant", source="OMIM:607426", source="indirect"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25223 ! COQ2 @@ -233567,8 +233489,8 @@ synonym: "lissencephaly, classic" RELATED [OMIM:607432] synonym: "PAFAH1B1-related lissencephaly" EXACT [Orphanet:95232] synonym: "subcortical band heterotopia" RELATED [OMIM:607432] synonym: "subcortical laminar heterotopia" RELATED [OMIM:607432] -xref: ICD10CM:Q04.3 {source="Orphanet:95232", source="ORDO:95232/attributed", source="ORDO:95232/ntbt"} -xref: OMIM:607432 {source="Orphanet:95232", source="MONDO:equivalentTo", source="ORDO:95232/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:95232", source="Orphanet:95232/attributed", source="Orphanet:95232/ntbt"} +xref: OMIM:607432 {source="Orphanet:95232", source="MONDO:equivalentTo", source="Orphanet:95232/e"} xref: Orphanet:95232 {source="MONDO:equivalentTo", source="OMIM:607432"} xref: Orphanet:99796 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:607432"} xref: UMLS:C0431375 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607432"} @@ -233600,7 +233522,7 @@ xref: MESH:C564400 {source="MONDO:equivalentTo"} xref: OMIM:607450 {source="MONDO:equivalentTo", source="DOID:0110076"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:607450"} xref: UMLS:C1843896 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607450"} -is_a: MONDO:0016342 {source="DOID:0110076", source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110076", source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 ! DSP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 {source="mim2gene_medgen"} ! DSP @@ -233615,8 +233537,7 @@ synonym: "autosomal dominant nonsyndromic deafness 44" NARROW [OMIM:607453] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 44" NARROW [DOID:0110569, MONDORULE:2] synonym: "CCDC50 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 44" NARROW [OMIM:607453, OMIM:genemap2] -synonym: "deafness, autosomal dominant 44" NARROW [MONDO:Lexical, OMIM:607453] +synonym: "deafness, autosomal dominant 44" NARROW [MONDO:Lexical, OMIM:607453, OMIM:genemap2] synonym: "deafness, autosomal dominant type 44" NARROW [MONDORULE:2, OMIM:607453] synonym: "DFNA44" NARROW ABBREVIATION [DOID:0110569, MONDO:Lexical, OMIM:607453] xref: DOID:0110569 {source="MONDO:equivalentTo"} @@ -233642,12 +233563,12 @@ synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical, OMIM:607454] synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454] xref: DOID:0050972 {source="MONDO:equivalentTo"} xref: GARD:0009999 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:98773", source="ORDO:98773/attributed", source="ORDO:98773/ntbt"} -xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="ORDO:98773/e"} -xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="ORDO:98773/e"} +xref: ICD10CM:G11.1 {source="Orphanet:98773", source="Orphanet:98773/attributed", source="Orphanet:98773/ntbt"} +xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="Orphanet:98773/e"} +xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="Orphanet:98773/e"} xref: Orphanet:98773 {source="MONDO:equivalentTo", source="OMIM:607454"} xref: SCTID:718774001 {source="MONDO:equivalentTo"} -xref: UMLS:C1843891 {source="Orphanet:98773", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607454", source="ORDO:98773/e"} +xref: UMLS:C1843891 {source="Orphanet:98773", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98773/e", source="OMIM:607454"} xref: UMLS:C4305144 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98773"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25186 {source="mim2gene_medgen"} ! TMEM240 @@ -233665,12 +233586,12 @@ synonym: "SMNA" RELATED ABBREVIATION [GARD:0009976] synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458] xref: DOID:0050969 {source="MONDO:equivalentTo"} xref: GARD:0009976 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:98771/attributed", source="ORDO:98771/ntbt", source="Orphanet:98771"} -xref: MESH:C537197 {source="MONDO:equivalentTo", source="ORDO:98771/e", source="Orphanet:98771"} -xref: OMIM:607458 {source="MONDO:equivalentTo", source="ORDO:98771/e", source="DOID:0050969", source="Orphanet:98771"} +xref: ICD10CM:G11.8 {source="Orphanet:98771/attributed", source="Orphanet:98771/ntbt", source="Orphanet:98771"} +xref: MESH:C537197 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="Orphanet:98771"} +xref: OMIM:607458 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="DOID:0050969", source="Orphanet:98771"} xref: Orphanet:98771 {source="OMIM:607458", source="MONDO:equivalentTo"} xref: SCTID:719250005 {source="MONDO:equivalentTo"} -xref: UMLS:C1843884 {source="OMIM:607458", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98771/e", source="Orphanet:98771"} +xref: UMLS:C1843884 {source="OMIM:607458", source="NCBI:mim2gene_medline", source="Orphanet:98771/e", source="MONDO:equivalentTo", source="Orphanet:98771"} xref: UMLS:C4304848 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98771"} ! autosomal dominant cerebellar ataxia type I property_value: confidence "2.2500000000000004" xsd:double @@ -233697,15 +233618,15 @@ synonym: "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" RELATE synonym: "spinocerebellar ataxia with epilepsy" RELATED [OMIM:607459] xref: DOID:0111276 {source="MONDO:equivalentTo"} xref: GARD:0009998 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.3 {source="ORDO:402082/attributed", source="ORDO:402082/ntbt", source="Orphanet:402082"} -xref: ICD10CM:G71.3 {source="Orphanet:70595", source="ORDO:70595/attributed", source="ORDO:70595/ntbt"} -xref: MESH:C537583 {source="ORDO:70595/e", source="Orphanet:70595"} -xref: OMIM:607459 {source="ORDO:70595/e", source="Orphanet:70595", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:613832 {source="ORDO:402082/e", source="MONDO:equivalentTo", source="Orphanet:402082"} +xref: ICD10CM:G40.3 {source="Orphanet:402082", source="Orphanet:402082/attributed", source="Orphanet:402082/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:70595/attributed", source="Orphanet:70595/ntbt", source="Orphanet:70595"} +xref: MESH:C537583 {source="Orphanet:70595", source="Orphanet:70595/e"} +xref: OMIM:607459 {source="Orphanet:70595", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:70595/e"} +xref: OMIM:613832 {source="MONDO:equivalentTo", source="Orphanet:402082", source="Orphanet:402082/e"} xref: Orphanet:254881 {source="OMIM:607459", source="MONDO:superClassOf"} xref: Orphanet:402082 {source="MONDO:equivalentTo", source="OMIM:613832"} xref: Orphanet:70595 {source="OMIM:607459", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C1843851 {source="ORDO:70595/e", source="OMIM:607459", source="NCBI:mim2gene_medline", source="Orphanet:70595", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: UMLS:C1843851 {source="OMIM:607459", source="NCBI:mim2gene_medline", source="Orphanet:70595", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:70595/e"} xref: UMLS:C1843852 {source="OMIM:607459", source="MONDO:superClassOf"} xref: UMLS:C3151194 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613832"} xref: UMLS:CN226157 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -233738,7 +233659,7 @@ xref: Orphanet:146 {source="MONDO:subClassOf", source="OMIM:607464"} xref: SCTID:423158009 {source="DOID:8161", source="MONDO:equivalentTo"} xref: UMLS:C0749424 {source="NCBI:mim2gene_medline", source="DOID:8161", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607464"} is_a: MONDO:0005034 {source="linkedlifedata"} ! thyroid gland follicular carcinoma -is_a: MONDO:0015447 {source="ORDO:146/btnt", source="indirect"} ! differentiated thyroid carcinoma +is_a: MONDO:0015447 {source="Orphanet:146/btnt", source="indirect"} ! differentiated thyroid carcinoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17194 {source="mim2gene_medgen"} ! NDUFA13 property_value: confidence "1.198067632850242" xsd:double @@ -233769,9 +233690,9 @@ synonym: "Vasterbotten dystrophy" EXACT [DOID:0050683, OMIM:607475] synonym: "VC$sterbotten dystrophy" EXACT [Orphanet:85128] synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128] xref: DOID:0050683 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="Orphanet:85128", source="ORDO:85128/attributed", source="ORDO:85128/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:H35.5 {source="Orphanet:85128", source="MONDO:directSiblingOf", source="Orphanet:85128/attributed", source="Orphanet:85128/ntbt"} xref: MESH:C564392 {source="MONDO:equivalentTo"} -xref: OMIM:607475 {source="DOID:0050683", source="ORDO:85128/e", source="MONDO:equivalentTo", source="Orphanet:85128"} +xref: OMIM:607475 {source="DOID:0050683", source="MONDO:equivalentTo", source="Orphanet:85128", source="Orphanet:85128/e"} xref: Orphanet:85128 {source="MONDO:equivalentTo", source="OMIM:607475"} xref: SCTID:715647007 {source="MONDO:equivalentTo"} xref: UMLS:C1843816 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85128", source="OMIM:607475"} @@ -233835,15 +233756,15 @@ synonym: "thiamine-responsive encephalopathy" EXACT [MONDO:0016050] synonym: "THMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607483] xref: DOID:0050659 {source="MONDO:equivalentTo"} xref: GARD:0010237 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G25.8 {source="ORDO:65284/attributed", source="ORDO:65284/ntbt", source="Orphanet:65284"} +xref: ICD10CM:G25.8 {source="Orphanet:65284", source="Orphanet:65284/attributed", source="Orphanet:65284/ntbt"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537658 {source="MONDO:equivalentTo", source="ORDO:65284/e", source="Orphanet:65284"} -xref: OMIM:607483 {source="ORDO:65284/ntbt", source="MONDO:equivalentTo", source="Orphanet:65284", source="DOID:0050659"} +xref: MESH:C537658 {source="Orphanet:65284/e", source="MONDO:equivalentTo", source="Orphanet:65284"} +xref: OMIM:607483 {source="MONDO:equivalentTo", source="Orphanet:65284", source="DOID:0050659", source="Orphanet:65284/ntbt"} xref: Orphanet:199348 {source="MONDO:equivalentTo"} xref: Orphanet:65284 {source="MONDO:equivalentTo", source="OMIM:607483", source="MONDO:preferredExternal"} xref: SCTID:703522009 {source="MONDO:equivalentTo"} xref: SCTID:723557004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C1843807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607483", source="ORDO:65284/e", source="Orphanet:65284"} +xref: UMLS:C1843807 {source="Orphanet:65284/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607483", source="Orphanet:65284"} is_a: MONDO:0000152 {source="DC-OMIM:607483", source="OMIM:607483"} ! thiamine-responsive dysfunction syndrome is_a: MONDO:0003996 {source="DOID:0050659", source="MESH:C537658", source="MONDO:Redundant", source="linkedlifedata"} ! basal ganglia disorder is_a: MONDO:0005527 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! toxic encephalopathy @@ -234131,13 +234052,13 @@ synonym: "granular-lattice (Avellino) corneal dystrophy" RELATED [GARD:0009278] synonym: "granular-lattice corneal dystrophy" EXACT [Orphanet:98963] xref: DOID:0060444 {source="MONDO:equivalentTo"} xref: GARD:0009278 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="Orphanet:98963", source="ORDO:98963/attributed", source="ORDO:98963/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98963", source="Orphanet:98963/attributed", source="Orphanet:98963/ntbt"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535474 {source="ORDO:98963/e", source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo"} -xref: OMIM:607541 {source="ORDO:98963/e", source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo"} +xref: MESH:C535474 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"} +xref: OMIM:607541 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"} xref: Orphanet:98963 {source="DOID:0060444", source="MONDO:equivalentTo", source="OMIM:607541"} xref: SCTID:397568004 {source="DOID:0060444", source="MONDO:equivalentTo"} -xref: UMLS:C1275685 {source="ORDO:98963/e", source="Orphanet:98963", source="DOID:0060444", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607541"} +xref: UMLS:C1275685 {source="Orphanet:98963", source="DOID:0060444", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98963/e", source="OMIM:607541"} is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020213 {source="Orphanet:98963", source="linkedlifedata"} ! stromal corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI @@ -234151,11 +234072,11 @@ synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543] synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719] synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543] xref: GARD:0008719 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="Orphanet:168552", source="ORDO:168552/attributed", source="ORDO:168552/ntbt"} -xref: MESH:C535791 {source="Orphanet:168552", source="ORDO:168552/e", source="MONDO:equivalentTo"} -xref: OMIM:607543 {source="Orphanet:168552", source="ORDO:168552/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.8 {source="Orphanet:168552", source="Orphanet:168552/attributed", source="Orphanet:168552/ntbt"} +xref: MESH:C535791 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} +xref: OMIM:607543 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} xref: Orphanet:168552 {source="MONDO:equivalentTo", source="OMIM:607543"} -xref: UMLS:C1843706 {source="Orphanet:168552", source="ORDO:168552/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607543"} +xref: UMLS:C1843706 {source="Orphanet:168552", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168552/e", source="OMIM:607543"} is_a: MONDO:0016763 {source="Orphanet:168552"} ! spondylometaphyseal dysplasia property_value: confidence "3.533333333333334" xsd:double @@ -234233,9 +234154,9 @@ synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG24" EXACT ABBREVIATION [DOID:0110775, MONDO:Lexical, OMIM:607584, Orphanet:101004] xref: DOID:0110775 {source="MONDO:equivalentTo"} xref: GARD:0009296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110775", source="Orphanet:101004", source="ORDO:101004/attributed", source="ORDO:101004/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101004/attributed", source="Orphanet:101004/ntbt", source="DOID:0110775", source="Orphanet:101004"} xref: MESH:C564375 {source="MONDO:equivalentTo"} -xref: OMIM:607584 {source="DOID:0110775", source="ORDO:101004/e", source="Orphanet:101004", source="MONDO:equivalentTo"} +xref: OMIM:607584 {source="DOID:0110775", source="Orphanet:101004", source="MONDO:equivalentTo", source="Orphanet:101004/e"} xref: Orphanet:101004 {source="DOID:0110775", source="MONDO:equivalentTo", source="OMIM:607584"} xref: UMLS:C1843569 {source="NCBI:mim2gene_medline", source="Orphanet:101004", source="MONDO:equivalentTo", source="OMIM:607584"} is_a: MONDO:0015089 {source="Orphanet:101004"} ! autosomal recessive complex spastic paraplegia @@ -234291,7 +234212,7 @@ xref: DOID:0060265 {source="MONDO:equivalentTo"} xref: OMIM:607596 {source="DOID:0060265", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="MONDO:subClassOf", source="DOID:0060265", source="OMIM:607596"} xref: UMLS:C1843504 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:607596"} -is_a: MONDO:0016396 {source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1 +is_a: MONDO:0016396 {source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 is_a: MONDO:0020135 {source="DOID:0060265", source="MONDO:Redundant", source="OMIM:607596", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12718 ! VRK1 @@ -234324,9 +234245,9 @@ synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:6 synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [DOID:0060560, Orphanet:137776] xref: DOID:0060560 {source="MONDO:equivalentTo"} xref: GARD:0009177 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="DOID:0060560", source="Orphanet:137776", source="ORDO:137776/attributed", source="ORDO:137776/ntbt"} +xref: ICD10CM:Q68.8 {source="DOID:0060560", source="Orphanet:137776", source="Orphanet:137776/attributed", source="Orphanet:137776/ntbt"} xref: MESH:C564369 {source="DOID:0060560", source="MONDO:equivalentTo"} -xref: OMIM:607598 {source="DOID:0060560", source="Orphanet:137776", source="ORDO:137776/e", source="MONDO:equivalentTo"} +xref: OMIM:607598 {source="DOID:0060560", source="Orphanet:137776", source="MONDO:equivalentTo", source="Orphanet:137776/e"} xref: Orphanet:137776 {source="MONDO:equivalentTo", source="OMIM:607598"} xref: Orphanet:137783 {source="DOID:0060560", source="MONDO:directSiblingOf"} xref: SCTID:715419004 {source="MONDO:equivalentTo"} @@ -234349,9 +234270,9 @@ def: "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype subset: ordo_disease {source="Orphanet:89839"} synonym: "EBSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607600, Orphanet:89839] synonym: "epidermolysis bullosa simplex superficialis" EXACT [MONDO:Lexical, OMIM:607600] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:89839/attributed", source="ORDO:89839/ntbt", source="Orphanet:89839"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:89839", source="Orphanet:89839/attributed", source="Orphanet:89839/ntbt"} xref: MESH:C564368 {source="MONDO:equivalentTo"} -xref: OMIM:607600 {source="MONDO:equivalentTo", source="ORDO:89839/e", source="Orphanet:89839"} +xref: OMIM:607600 {source="MONDO:equivalentTo", source="Orphanet:89839", source="Orphanet:89839/e"} xref: Orphanet:89839 {source="OMIM:607600", source="MONDO:equivalentTo"} xref: UMLS:C1843477 {source="OMIM:607600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:89839"} is_a: MONDO:0015550 {source="Orphanet:89839"} ! suprabasal epidermolysis bullosa simplex @@ -234366,14 +234287,14 @@ synonym: "AEI" EXACT ABBREVIATION [Orphanet:281139] synonym: "Ciehk" RELATED [OMIM:607602] synonym: "epidermolytic ichthyosis, annular" RELATED [OMIM:607602] synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602] -xref: ICD10CM:Q80.3 {source="ORDO:281139/attributed", source="ORDO:281139/ntbt", source="Orphanet:281139"} +xref: ICD10CM:Q80.3 {source="Orphanet:281139/attributed", source="Orphanet:281139/ntbt", source="Orphanet:281139"} xref: MESH:C564367 {source="MONDO:equivalentTo"} -xref: OMIM:607602 {source="MONDO:equivalentTo", source="ORDO:281139/e", source="Orphanet:281139"} +xref: OMIM:607602 {source="Orphanet:281139/e", source="MONDO:equivalentTo", source="Orphanet:281139"} xref: Orphanet:281139 {source="OMIM:607602", source="MONDO:equivalentTo"} xref: Orphanet:312 {source="MONDO:subClassOf", source="OMIM:607602"} xref: SCTID:718631006 {source="MONDO:equivalentTo"} xref: UMLS:C1843463 {source="OMIM:607602", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007239 {source="MESH:C564367", source="ORDO:312/btnt", source="linkedlifedata"} ! epidermolytic ichthyosis +is_a: MONDO:0007239 {source="MESH:C564367", source="Orphanet:312/btnt", source="linkedlifedata"} ! epidermolytic ichthyosis relationship: has_modifier HP:0000006 {source="Orphanet:281139"} ! Autosomal dominant inheritance property_value: confidence "2.5590909090909095" xsd:double @@ -234391,15 +234312,15 @@ synonym: "Niemann-Pick disease, type F" RELATED [OMIM:607616] synonym: "type B Niemann-Pick disease" EXACT [NCIT:C126866] xref: DOID:0070112 {source="MONDO:equivalentTo"} xref: GARD:0010729 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="DOID:0070112", source="ORDO:77293/ntbt", source="Orphanet:77293", source="ORDO:77293/inclusion"} +xref: ICD10CM:E75.2 {source="Orphanet:77293/inclusion", source="DOID:0070112", source="Orphanet:77293", source="Orphanet:77293/ntbt"} xref: ICD10CM:E75.241 {source="MONDO:equivalentTo"} -xref: MESH:D052537 {source="ORDO:77293/e", source="MONDO:equivalentTo", source="Orphanet:77293"} +xref: MESH:D052537 {source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} xref: NCIT:C126866 {source="MONDO:equivalentTo"} -xref: OMIM:607616 {source="ORDO:77293/e", source="DOID:0070112", source="MONDO:equivalentTo", source="Orphanet:77293"} +xref: OMIM:607616 {source="DOID:0070112", source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} xref: Orphanet:77293 {source="OMIM:607616", source="MONDO:equivalentTo"} xref: Orphanet:99022 {source="OMIM:607616", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: SCTID:39390005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268243 {source="OMIM:607616", source="ORDO:77293/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:77293", source="NCIT:C126866"} +xref: UMLS:C0268243 {source="OMIM:607616", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:77293", source="NCIT:C126866", source="Orphanet:77293/e"} xref: UMLS:C0268248 {source="OMIM:607616", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1843418 {source="OMIM:607616", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2675644 {source="OMIM:607616", source="MONDO:notFoundInDiseaseSubset"} @@ -234431,13 +234352,13 @@ synonym: "Paid syndrome" RELATED [OMIM:607624] synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, OMIM:607624] xref: DOID:0060833 {source="MONDO:equivalentTo"} xref: GARD:0004483 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="ORDO:79477/attributed", source="ORDO:79477/ntbt", source="MONDO:relatedTo", source="DOID:0060833", source="Orphanet:79477"} -xref: MESH:C537302 {source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="Orphanet:79477"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79477/attributed", source="Orphanet:79477/ntbt", source="DOID:0060833", source="Orphanet:79477"} +xref: MESH:C537302 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} xref: NCIT:C111814 {source="MONDO:equivalentTo"} -xref: OMIM:607624 {source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="Orphanet:79477"} +xref: OMIM:607624 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} xref: Orphanet:381 {source="MONDO:subClassOf", source="OMIM:607624"} xref: Orphanet:79477 {source="OMIM:607624", source="MONDO:equivalentTo", source="DOID:0060833"} -xref: UMLS:C1868679 {source="NCIT:C111814", source="OMIM:607624", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="Orphanet:79477"} +xref: UMLS:C1868679 {source="NCIT:C111814", source="OMIM:607624", source="NCBI:mim2gene_medline", source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C111814", source="indirect"} ! syndromic disease is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0005093 ! skin disorder @@ -234469,7 +234390,7 @@ xref: OMIM:607625 {source="MONDO:equivalentTo", source="DOID:0070114"} xref: Orphanet:646 {source="MONDO:subClassOf", source="OMIM:607625"} xref: UMLS:C1843366 {source="OMIM:607625", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126865"} is_a: MONDO:0001982 {source="DOID:0070114", source="MESH:C536119/inferred", source="NCIT:C126865/inferred"} ! Niemann-Pick disease -is_a: MONDO:0018982 {source="MESH:C536119", source="ORDO:646/btnt"} ! Niemann-Pick disease type C +is_a: MONDO:0018982 {source="MESH:C536119", source="Orphanet:646/btnt"} ! Niemann-Pick disease type C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14537 {source="mim2gene_medgen"} ! NPC2 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:607625"} ! Autosomal recessive inheritance property_value: confidence "0.8364197530864197" xsd:double @@ -234491,7 +234412,7 @@ synonym: "NISCH syndrome" EXACT [Orphanet:59303] synonym: "Nisch syndrome" RELATED [OMIM:607626] xref: GARD:0010583 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C564365 {source="MONDO:equivalentTo"} -xref: OMIM:607626 {source="MONDO:equivalentTo", source="ORDO:59303/e", source="Orphanet:59303"} +xref: OMIM:607626 {source="Orphanet:59303/e", source="MONDO:equivalentTo", source="Orphanet:59303"} xref: Orphanet:59303 {source="OMIM:607626", source="MONDO:equivalentTo"} xref: SCTID:724278007 {source="MONDO:equivalentTo"} xref: UMLS:C1843355 {source="NCBI:mim2gene_medline", source="OMIM:607626", source="MONDO:equivalentTo", source="Orphanet:59303"} @@ -234545,16 +234466,16 @@ synonym: "JAE" EXACT ABBREVIATION [Orphanet:1941] synonym: "susceptibility to juvenile absence epilepsy 1" RELATED [OMIM:607631] xref: DOID:0060172 {source="MONDO:equivalentTo"} xref: GARD:0002162 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.3 {source="ORDO:1941/attributed", source="ORDO:1941/ntbt", source="Orphanet:1941"} -xref: MESH:C535495 {source="Orphanet:1941", source="ORDO:1941/e"} +xref: ICD10CM:G40.3 {source="Orphanet:1941", source="Orphanet:1941/attributed", source="Orphanet:1941/ntbt"} +xref: MESH:C535495 {source="Orphanet:1941", source="Orphanet:1941/e"} xref: NCIT:C129868 {source="MONDO:equivalentTo"} -xref: OMIM:607631 {source="Orphanet:1941", source="MONDO:superClassOf", source="ORDO:1941/e"} +xref: OMIM:607631 {source="Orphanet:1941", source="MONDO:superClassOf", source="Orphanet:1941/e"} xref: OMIMPS:607631 {source="MONDO:equivalentTo"} xref: Orphanet:1941 {source="MONDO:equivalentTo", source="OMIM:607631"} xref: SCTID:230413002 {source="MONDO:equivalentTo"} xref: UMLS:C0014553 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2750892 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607631"} -xref: UMLS:C2930918 {source="Orphanet:1941", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1941/e"} +xref: UMLS:C2930918 {source="Orphanet:1941", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1941/e"} xref: UMLS:C4317339 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIM:607631"} ! inherited disease susceptibility is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558", source="indirect"} ! adolescent/adult-onset epilepsy syndrome @@ -234577,12 +234498,12 @@ synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:607 synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [OMIM:607634] xref: DOID:0110937 {source="MONDO:equivalentTo"} xref: GARD:0004151 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.2 {source="Orphanet:2783", source="DOID:0110937", source="ORDO:2783/inclusion", source="ORDO:2783/ntbt"} -xref: MESH:C536056 {source="ORDO:2783/e", source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937"} -xref: OMIM:607634 {source="ORDO:2783/e", source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937"} +xref: ICD10CM:Q78.2 {source="Orphanet:2783/ntbt", source="Orphanet:2783", source="DOID:0110937", source="Orphanet:2783/inclusion"} +xref: MESH:C536056 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"} +xref: OMIM:607634 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"} xref: Orphanet:2783 {source="OMIM:607634", source="MONDO:equivalentTo", source="DOID:0110937"} xref: UMLS:C1843330 {source="OMIM:607634", source="Orphanet:2783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -xref: UMLS:C2931097 {source="ORDO:2783/e", source="Orphanet:2783", source="MONDO:notFoundInDiseaseSubset", source="DOID:0110937"} +xref: UMLS:C2931097 {source="Orphanet:2783", source="MONDO:notFoundInDiseaseSubset", source="DOID:0110937", source="Orphanet:2783/e"} is_a: MONDO:0017198 {source="DC-OMIM:607634", source="DOID:0110937", source="MONDO:Redundant", source="OMIM:607634", source="Orphanet:2783"} ! osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6697 ! LRP5 @@ -234634,7 +234555,7 @@ xref: OMIM:607641 {source="MONDO:equivalentTo"} xref: Orphanet:139589 {source="MONDO:subClassOf", source="OMIM:607641"} xref: UMLS:C1843315 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607641"} is_a: MONDO:0000075 {source="DC-OMIM:607641", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor -is_a: MONDO:0015355 {source="ORDO:139589/btnt"} ! distal hereditary motor neuropathy type 7 +is_a: MONDO:0015355 {source="Orphanet:139589/btnt"} ! distal hereditary motor neuropathy type 7 intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2711 ! DCTN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2711 {source="mim2gene_medgen"} ! DCTN1 @@ -234671,7 +234592,7 @@ xref: OMIM:607654 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="MONDO:subClassOf", source="OMIM:607654"} xref: UMLS:C1843302 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931123 {source="MONDO:equivalentTo", source="OMIM:607654"} -is_a: MONDO:0018865 {source="MONDO:Redundant", source="ORDO:50942/btnt"} ! striate palmoplantar keratoderma +is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6412 ! KRT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6412 {source="mim2gene_medgen"} ! KRT1 @@ -234688,9 +234609,9 @@ synonym: "skin fragility woolly hair syndrome" RELATED [GARD:0005231] synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655] synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165] xref: GARD:0005231 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:293165/attributed", source="ORDO:293165/ntbt", source="Orphanet:293165"} +xref: ICD10CM:Q82.8 {source="Orphanet:293165", source="Orphanet:293165/attributed", source="Orphanet:293165/ntbt"} xref: MESH:C564359 {source="MONDO:equivalentTo"} -xref: OMIM:607655 {source="ORDO:293165/e", source="MONDO:equivalentTo", source="Orphanet:293165"} +xref: OMIM:607655 {source="MONDO:equivalentTo", source="Orphanet:293165", source="Orphanet:293165/e"} xref: Orphanet:293165 {source="OMIM:607655", source="MONDO:equivalentTo"} xref: UMLS:C1843292 {source="OMIM:607655", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma @@ -234711,11 +234632,11 @@ synonym: "CHACS" EXACT ABBREVIATION [Orphanet:307766] synonym: "Chacs" RELATED [OMIM:607656] synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [OMIM:607656] xref: GARD:0010163 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:307766/attributed", source="ORDO:307766/ntbt", source="Orphanet:307766"} +xref: ICD10CM:Q82.8 {source="Orphanet:307766/attributed", source="Orphanet:307766/ntbt", source="Orphanet:307766"} xref: MESH:C536220 {source="MONDO:equivalentTo"} -xref: OMIM:607656 {source="MONDO:equivalentTo", source="Orphanet:307766", source="ORDO:307766/e"} +xref: OMIM:607656 {source="Orphanet:307766/e", source="MONDO:equivalentTo", source="Orphanet:307766"} xref: Orphanet:307766 {source="OMIM:607656", source="MONDO:equivalentTo"} -xref: UMLS:C1843291 {source="OMIM:607656", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:307766", source="ORDO:307766/e"} +xref: UMLS:C1843291 {source="OMIM:607656", source="Orphanet:307766/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:307766"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:307766"} ! ectodermal dysplasia syndrome property_value: confidence "4.277777777777778" xsd:double @@ -234732,9 +234653,9 @@ synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syn synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658] synonym: "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] synonym: "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] -xref: ICD10CM:Q82.8 {source="Orphanet:307936", source="ORDO:307936/attributed", source="ORDO:307936/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:307936/attributed", source="Orphanet:307936/ntbt", source="Orphanet:307936"} xref: MESH:C564357 {source="MONDO:equivalentTo"} -xref: OMIM:607658 {source="ORDO:307936/e", source="Orphanet:307936", source="MONDO:equivalentTo"} +xref: OMIM:607658 {source="Orphanet:307936", source="MONDO:equivalentTo", source="Orphanet:307936/e"} xref: Orphanet:307936 {source="OMIM:607658", source="MONDO:equivalentTo"} xref: SCTID:763658004 {source="MONDO:equivalentTo"} xref: UMLS:C1843285 {source="OMIM:607658", source="NCBI:mim2gene_medline", source="Orphanet:307936", source="MONDO:equivalentTo"} @@ -234755,17 +234676,17 @@ synonym: "TINU syndrome" EXACT [Orphanet:91500] synonym: "Tubulointerstitial nephritis and uveitis" EXACT [NCIT:C123021] synonym: "TUBULOINTERSTITIAL nephritis with uveitis" RELATED [MONDO:Lexical, OMIM:607665] xref: GARD:0009252 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:N10 {source="MONDO:relatedTo", source="ORDO:91500/ntbt", source="Orphanet:91500"} -xref: MedDRA:10069034 {source="ORDO:91500/e", source="Orphanet:91500"} -xref: MedDRA:10069039 {source="ORDO:91500/e", source="Orphanet:91500"} -xref: MESH:C536922 {source="ORDO:91500/e", source="Orphanet:91500"} +xref: ICD10CM:N10 {source="MONDO:relatedTo", source="Orphanet:91500", source="Orphanet:91500/ntbt"} +xref: MedDRA:10069034 {source="Orphanet:91500", source="Orphanet:91500/e"} +xref: MedDRA:10069039 {source="Orphanet:91500", source="Orphanet:91500/e"} +xref: MESH:C536922 {source="Orphanet:91500", source="Orphanet:91500/e"} xref: NCIT:C123021 {source="MONDO:equivalentTo"} -xref: OMIM:607665 {source="MONDO:equivalentTo", source="ORDO:91500/e", source="Orphanet:91500"} +xref: OMIM:607665 {source="MONDO:equivalentTo", source="Orphanet:91500", source="Orphanet:91500/e"} xref: Orphanet:91500 {source="MONDO:equivalentTo", source="OMIM:607665"} -xref: UMLS:C1639520 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:91500/e", source="Orphanet:91500"} +xref: UMLS:C1639520 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91500", source="Orphanet:91500/e"} xref: UMLS:C1843273 {source="NCIT:C123021", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91500", source="OMIM:607665"} xref: UMLS:C1843274 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607665"} -xref: UMLS:C2609298 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:91500/e", source="Orphanet:91500"} +xref: UMLS:C2609298 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91500", source="Orphanet:91500/e"} is_a: MONDO:0002254 {source="NCIT:C123021"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder property_value: confidence "3.666666666666667" xsd:double @@ -234782,9 +234703,9 @@ synonym: "primary dystonia, DYT13 type" RELATED [Orphanet:98807] synonym: "primary torsion dystonia with predominant craniocervical or upper limb onset" EXACT [Orphanet:98807] synonym: "torsion dystonia type 13" EXACT [DOID:0090037, MONDORULE:2] xref: DOID:0090037 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="ORDO:98807/attributed", source="ORDO:98807/ntbt", source="DOID:0090037", source="Orphanet:98807"} +xref: ICD10CM:G24.1 {source="Orphanet:98807/attributed", source="Orphanet:98807/ntbt", source="DOID:0090037", source="Orphanet:98807"} xref: MESH:C564354 {source="MONDO:equivalentTo"} -xref: OMIM:607671 {source="MONDO:equivalentTo", source="ORDO:98807/e", source="DOID:0090037", source="Orphanet:98807"} +xref: OMIM:607671 {source="Orphanet:98807/e", source="MONDO:equivalentTo", source="DOID:0090037", source="Orphanet:98807"} xref: Orphanet:98807 {source="MONDO:equivalentTo", source="DOID:0090037", source="OMIM:607671"} xref: SCTID:719278006 {source="MONDO:equivalentTo"} xref: UMLS:C1843264 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607671", source="Orphanet:98807"} @@ -234819,10 +234740,10 @@ synonym: "IRAK-4 deficiency" RELATED [GARD:0010311] synonym: "IRAK4 deficiency" EXACT [OMIM:607676, Orphanet:70592] synonym: "IRAK4D" RELATED ABBREVIATION [OMIM:607676] xref: GARD:0010311 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D84.8 {source="Orphanet:70592", source="ORDO:70592/attributed", source="ORDO:70592/ntbt"} +xref: ICD10CM:D84.8 {source="Orphanet:70592", source="Orphanet:70592/attributed", source="Orphanet:70592/ntbt"} xref: MESH:C563662 {source="MONDO:equivalentObsolete"} xref: MESH:C564352 {source="MONDO:equivalentTo"} -xref: OMIM:607676 {source="Orphanet:70592", source="MONDO:equivalentTo", source="ORDO:70592/e"} +xref: OMIM:607676 {source="Orphanet:70592", source="MONDO:equivalentTo", source="Orphanet:70592/e"} xref: Orphanet:70592 {source="MONDO:equivalentTo", source="OMIM:607676"} xref: UMLS:C1835828 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:610799"} xref: UMLS:C1843256 {source="Orphanet:70592", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607676"} @@ -234848,8 +234769,8 @@ synonym: "CMT 2I" RELATED [GARD:0009197] synonym: "CMT2I" EXACT ABBREVIATION [DOID:0110158, MONDO:Lexical, OMIM:607677, Orphanet:99942] xref: DOID:0110158 {source="MONDO:equivalentTo"} xref: GARD:0009197 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99942", source="ORDO:99942/attributed", source="ORDO:99942/ntbt", source="DOID:0110158"} -xref: OMIM:607677 {source="ORDO:99942/e", source="Orphanet:99942", source="MONDO:equivalentTo", source="DOID:0110158"} +xref: ICD10CM:G60.0 {source="Orphanet:99942", source="Orphanet:99942/attributed", source="Orphanet:99942/ntbt", source="DOID:0110158"} +xref: OMIM:607677 {source="Orphanet:99942", source="MONDO:equivalentTo", source="Orphanet:99942/e", source="DOID:0110158"} xref: Orphanet:99942 {source="OMIM:607677", source="MONDO:equivalentTo", source="DOID:0110158"} xref: SCTID:717013009 {source="MONDO:equivalentTo"} xref: UMLS:C1837552 {source="OMIM:607677", source="MONDO:directSiblingOf"} @@ -234884,12 +234805,12 @@ synonym: "HMSN ID" EXACT [DOID:0110150] synonym: "HMSN1D" EXACT ABBREVIATION [DOID:0110150, OMIM:607678] xref: DOID:0110150 {source="MONDO:equivalentTo"} xref: GARD:0009189 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:101084/attributed", source="ORDO:101084/ntbt", source="DOID:0110150", source="Orphanet:101084"} -xref: MESH:C537985 {source="MONDO:equivalentTo", source="ORDO:101084/e", source="Orphanet:101084"} -xref: OMIM:607678 {source="DOID:0110150", source="MONDO:equivalentTo", source="ORDO:101084/e", source="Orphanet:101084"} +xref: ICD10CM:G60.0 {source="DOID:0110150", source="Orphanet:101084/attributed", source="Orphanet:101084/ntbt", source="Orphanet:101084"} +xref: MESH:C537985 {source="Orphanet:101084/e", source="MONDO:equivalentTo", source="Orphanet:101084"} +xref: OMIM:607678 {source="Orphanet:101084/e", source="DOID:0110150", source="MONDO:equivalentTo", source="Orphanet:101084"} xref: Orphanet:101084 {source="OMIM:607678", source="DOID:0110150", source="MONDO:equivalentTo"} xref: SCTID:719979008 {source="MONDO:equivalentTo"} -xref: UMLS:C1843247 {source="OMIM:607678", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:101084/e", source="Orphanet:101084"} +xref: UMLS:C1843247 {source="OMIM:607678", source="Orphanet:101084/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101084"} is_a: MONDO:0015626 {source="DOID:0110150/inferred", source="MESH:C537985", source="MONDO:Redundant", source="OMIM:607678", source="Orphanet:101084/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019011 {source="DOID:0110150", source="MONDO:Redundant", source="Orphanet:101084", source="linkedlifedata"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 @@ -234965,8 +234886,7 @@ synonym: "autosomal dominant deafness 52" NARROW [DOID:0110578] synonym: "autosomal dominant nonsyndromic deafness 52" NARROW [OMIM:607683] synonym: "autosomal dominant nonsyndromic deafness type 52" NARROW [DOID:0110578, MONDORULE:2] synonym: "deafness, autosomal dominant 42" NARROW [OMIM:607683] -synonym: "deafness, autosomal dominant 52" NARROW [OMIM:607683, OMIM:genemap2] -synonym: "deafness, autosomal dominant 52" NARROW [MONDO:Lexical, OMIM:607683] +synonym: "deafness, autosomal dominant 52" NARROW [MONDO:Lexical, OMIM:607683, OMIM:genemap2] synonym: "DFNA52" NARROW ABBREVIATION [DOID:0110578, MONDO:Lexical, OMIM:607683] xref: DOID:0110578 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110578"} @@ -234996,10 +234916,10 @@ synonym: "CMT2E" EXACT ABBREVIATION [DOID:0110165, MONDO:Lexical, OMIM:607684, O synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110165 {source="MONDO:equivalentTo"} xref: GARD:0009193 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99939/attributed", source="ORDO:99939/ntbt", source="DOID:0110165", source="Orphanet:99939"} +xref: ICD10CM:G60.0 {source="DOID:0110165", source="Orphanet:99939", source="Orphanet:99939/attributed", source="Orphanet:99939/ntbt"} xref: MESH:C537994 {source="MONDO:equivalentTo"} xref: NCIT:C134953 {source="MONDO:equivalentTo"} -xref: OMIM:607684 {source="MONDO:equivalentTo", source="ORDO:99939/e", source="DOID:0110165", source="Orphanet:99939"} +xref: OMIM:607684 {source="Orphanet:99939/e", source="MONDO:equivalentTo", source="DOID:0110165", source="Orphanet:99939"} xref: Orphanet:99939 {source="MONDO:equivalentTo", source="DOID:0110165", source="OMIM:607684"} xref: SCTID:717012004 {source="MONDO:equivalentTo"} xref: UMLS:C1843225 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99939", source="NCIT:C134953", source="OMIM:607684"} @@ -235019,10 +234939,10 @@ subset: ordo_disease {source="Orphanet:3260"} synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [OMIM:607685, OMIM:genemap2] -xref: OMIM:607685 {source="MONDO:equivalentTo", source="Orphanet:3260", source="ORDO:3260/e"} +xref: OMIM:607685 {source="Orphanet:3260/e", source="MONDO:equivalentTo", source="Orphanet:3260"} xref: Orphanet:3260 {source="MONDO:equivalentTo", source="OMIM:607685"} xref: SCTID:423294001 {source="MONDO:equivalentTo"} -xref: UMLS:C0206141 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3260", source="ORDO:3260/e", source="OMIM:607685"} +xref: UMLS:C0206141 {source="Orphanet:3260/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3260", source="OMIM:607685"} is_a: MONDO:0015691 {source="Orphanet:3260"} ! hypereosinophilic syndrome intersection_of: MONDO:0015691 ! hypereosinophilic syndrome intersection_of: has_modifier MONDO:0700005 ! idiopathic @@ -235046,7 +234966,7 @@ xref: OMIM:607688 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="MONDO:subClassOf", source="OMIM:607688"} xref: UMLS:C1843211 {source="OMIM:607688", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005180 {source="MESH:C564345", source="MONDO:Redundant", source="OMIM:607688", source="indirect"} ! Parkinson disease -is_a: MONDO:0008199 {source="MONDO:Redundant", source="ORDO:411602/btnt"} ! late-onset Parkinson disease +is_a: MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease intersection_of: MONDO:0008199 ! late-onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11960 ! GIGYF2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11960 {source="mim2gene_medgen"} ! GIGYF2 @@ -235076,9 +234996,9 @@ synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT synonym: "tach syndrome" EXACT [DOID:0060794] synonym: "tremor-ataxia-central hypomyelination syndrome" EXACT EXCLUDE [DOID:0060794] xref: DOID:0060794 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="ORDO:137639/attributed", source="ORDO:137639/ntbt", source="Orphanet:137639"} +xref: ICD10CM:E75.2 {source="Orphanet:137639", source="Orphanet:137639/attributed", source="Orphanet:137639/ntbt"} xref: ICD10CM:G11.1 {source="DOID:0060794"} -xref: OMIM:607694 {source="DOID:0060794", source="ORDO:137639/ntbt", source="MONDO:equivalentTo", source="Orphanet:137639"} +xref: OMIM:607694 {source="DOID:0060794", source="MONDO:equivalentTo", source="Orphanet:137639", source="Orphanet:137639/ntbt"} xref: Orphanet:137639 {source="DOID:0060794", source="MONDO:equivalentTo", source="OMIM:607694"} xref: Orphanet:447893 {source="DOID:0060794", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:447896 {source="DOID:0060794", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -235118,9 +235038,9 @@ synonym: "NSLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607721] synonym: "NSLH1" RELATED ABBREVIATION [OMIM:607721] synonym: "Tosti syndrome" EXACT [OMIM:607721, Orphanet:2701] xref: GARD:0010719 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2701/attributed", source="ORDO:2701/ntbt", source="Orphanet:2701"} +xref: ICD10CM:Q87.1 {source="Orphanet:2701", source="Orphanet:2701/attributed", source="Orphanet:2701/ntbt"} xref: MESH:C564342 {source="MONDO:equivalentTo"} -xref: OMIM:607721 {source="ORDO:2701/e", source="MONDO:superClassOf", source="Orphanet:2701"} +xref: OMIM:607721 {source="MONDO:superClassOf", source="Orphanet:2701", source="Orphanet:2701/e"} xref: OMIM:617506 {source="MONDO:superClassOf", source="Orphanet:2701"} xref: OMIMPS:607721 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2701 {source="OMIM:607721", source="MONDO:equivalentTo"} @@ -235149,7 +235069,7 @@ xref: OMIM:607728 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="MONDO:subClassOf", source="OMIM:607728"} xref: UMLS:C1843180 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607728"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:607728", source="indirect"} ! porokeratosis -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.1527777777777777" xsd:double @@ -235173,12 +235093,12 @@ synonym: "CMT 2H" RELATED [GARD:0009196] synonym: "CMT2H" EXACT ABBREVIATION [DOID:0110166, MONDO:Lexical, OMIM:607731, Orphanet:101102] xref: DOID:0110166 {source="MONDO:equivalentTo"} xref: GARD:0009196 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:101102", source="ORDO:101102/attributed", source="ORDO:101102/ntbt", source="DOID:0110166"} -xref: MESH:C535415 {source="Orphanet:101102", source="ORDO:101102/e", source="MONDO:equivalentTo"} -xref: OMIM:607731 {source="Orphanet:101102", source="ORDO:101102/e", source="MONDO:equivalentTo", source="DOID:0110166"} +xref: ICD10CM:G60.0 {source="Orphanet:101102", source="Orphanet:101102/attributed", source="Orphanet:101102/ntbt", source="DOID:0110166"} +xref: MESH:C535415 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e"} +xref: OMIM:607731 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e", source="DOID:0110166"} xref: Orphanet:101102 {source="MONDO:equivalentTo", source="DOID:0110166", source="OMIM:607731"} xref: SCTID:720637005 {source="MONDO:equivalentTo"} -xref: UMLS:C1843173 {source="Orphanet:101102", source="ORDO:101102/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607731"} +xref: UMLS:C1843173 {source="Orphanet:101102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101102/e", source="OMIM:607731"} is_a: MONDO:0015626 {source="DOID:0110166/inferred", source="MESH:C535415", source="MONDO:Redundant", source="OMIM:607731", source="Orphanet:101102/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110166"} ! Charcot-Marie-Tooth disease type 2 is_a: MONDO:0019601 {source="Orphanet:101102"} ! autosomal recessive axonal hereditary motor and sensory neuropathy @@ -235201,9 +235121,9 @@ synonym: "CMT1F" EXACT ABBREVIATION [DOID:0110149, MONDO:Lexical, OMIM:607734, O synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110149 {source="MONDO:equivalentTo"} xref: GARD:0009191 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110149", source="Orphanet:101085", source="ORDO:101085/attributed", source="ORDO:101085/ntbt"} +xref: ICD10CM:G60.0 {source="DOID:0110149", source="Orphanet:101085/attributed", source="Orphanet:101085/ntbt", source="Orphanet:101085"} xref: MESH:C537987 {source="MONDO:equivalentTo"} -xref: OMIM:607734 {source="DOID:0110149", source="MONDO:equivalentTo", source="Orphanet:101085", source="ORDO:101085/e"} +xref: OMIM:607734 {source="DOID:0110149", source="Orphanet:101085/e", source="MONDO:equivalentTo", source="Orphanet:101085"} xref: Orphanet:101085 {source="DOID:0110149", source="OMIM:607734", source="MONDO:equivalentTo"} xref: SCTID:719980006 {source="MONDO:equivalentTo"} xref: UMLS:C1843164 {source="OMIM:607734", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101085"} @@ -235234,9 +235154,9 @@ synonym: "CMT 2J" RELATED [GARD:0009198] synonym: "CMT2J" EXACT ABBREVIATION [DOID:0110157, MONDO:Lexical, OMIM:607736, Orphanet:99943] xref: DOID:0110157 {source="MONDO:equivalentTo"} xref: GARD:0009198 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99943", source="ORDO:99943/attributed", source="ORDO:99943/ntbt", source="DOID:0110157"} +xref: ICD10CM:G60.0 {source="Orphanet:99943/attributed", source="Orphanet:99943/ntbt", source="Orphanet:99943", source="DOID:0110157"} xref: MESH:C535417 {source="MONDO:equivalentTo"} -xref: OMIM:607736 {source="ORDO:99943/e", source="Orphanet:99943", source="MONDO:equivalentTo", source="DOID:0110157"} +xref: OMIM:607736 {source="Orphanet:99943", source="MONDO:equivalentTo", source="Orphanet:99943/e", source="DOID:0110157"} xref: Orphanet:99943 {source="OMIM:607736", source="MONDO:equivalentTo", source="DOID:0110157"} xref: SCTID:717014003 {source="MONDO:equivalentTo"} xref: UMLS:C1843153 {source="NCBI:mim2gene_medline", source="OMIM:607736", source="Orphanet:99943", source="MONDO:notFoundInDiseaseSubset"} @@ -235267,9 +235187,9 @@ synonym: "seizures, benign familial infantile, 3" EXACT [MONDO:Lexical, OMIM:607 synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1, OMIM:607745] synonym: "seizures, benign familial neonatal-infantile" RELATED [OMIM:607745] xref: GARD:0001518 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="Orphanet:140927", source="ORDO:140927/attributed", source="ORDO:140927/ntbt"} -xref: MedDRA:10067866 {source="Orphanet:140927", source="ORDO:140927/e"} -xref: OMIM:607745 {source="Orphanet:140927", source="MONDO:equivalentTo", source="ORDO:140927/ntbt", source="GARD:0001518"} +xref: ICD10CM:G40.4 {source="Orphanet:140927", source="Orphanet:140927/attributed", source="Orphanet:140927/ntbt"} +xref: MedDRA:10067866 {source="Orphanet:140927", source="Orphanet:140927/e"} +xref: OMIM:607745 {source="Orphanet:140927", source="Orphanet:140927/ntbt", source="MONDO:equivalentTo", source="GARD:0001518"} xref: Orphanet:140927 {source="OMIM:607745", source="MONDO:equivalentTo", source="GARD:0001518"} xref: Orphanet:306 {source="MONDO:subClassOf", source="OMIM:607745", source="OMIM:601764"} xref: UMLS:C0220669 {source="Orphanet:140927", source="OMIM:601764", source="MONDO:notFoundInDiseaseSubset"} @@ -235310,11 +235230,11 @@ synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813] synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111071 {source="MONDO:equivalentTo"} xref: GARD:0009813 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K76.8 {source="ORDO:79301/attributed", source="ORDO:79301/ntbt", source="DOID:0111071", source="Orphanet:79301"} -xref: MESH:C535442 {source="DOID:0111071", source="MONDO:equivalentTo", source="ORDO:79301/e", source="Orphanet:79301"} -xref: OMIM:607765 {source="DOID:0111071", source="MONDO:equivalentTo", source="ORDO:79301/e", source="Orphanet:79301"} +xref: ICD10CM:K76.8 {source="DOID:0111071", source="Orphanet:79301/attributed", source="Orphanet:79301/ntbt", source="Orphanet:79301"} +xref: MESH:C535442 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"} +xref: OMIM:607765 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"} xref: Orphanet:79301 {source="OMIM:607765", source="DOID:0111071", source="MONDO:equivalentTo"} -xref: UMLS:C1843116 {source="OMIM:607765", source="DOID:0111071", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79301/e", source="Orphanet:79301"} +xref: UMLS:C1843116 {source="OMIM:607765", source="DOID:0111071", source="NCBI:mim2gene_medline", source="Orphanet:79301/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79301"} is_a: MONDO:0018841 {source="DC-OMIM:607765", source="DOID:0111071", source="MONDO:Redundant", source="OMIM:607765", source="Orphanet:79301"} ! congenital bile acid synthesis defect intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18324 ! HSD3B7 @@ -235331,9 +235251,9 @@ synonym: "ACFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607778] synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778] xref: DOID:0050604 {source="MONDO:equivalentTo"} xref: GARD:0010605 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:63446", source="ORDO:63446/attributed", source="ORDO:63446/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:63446/attributed", source="Orphanet:63446/ntbt", source="Orphanet:63446"} xref: MESH:C564334 {source="MONDO:equivalentTo"} -xref: OMIM:607778 {source="ORDO:63446/e", source="Orphanet:63446", source="MONDO:equivalentTo", source="DOID:0050604"} +xref: OMIM:607778 {source="Orphanet:63446", source="MONDO:equivalentTo", source="Orphanet:63446/e", source="DOID:0050604"} xref: Orphanet:63446 {source="OMIM:607778", source="MONDO:equivalentTo"} xref: SCTID:720416007 {source="MONDO:equivalentTo"} xref: UMLS:C1843096 {source="OMIM:607778", source="Orphanet:63446", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -235363,20 +235283,20 @@ synonym: "leukemia, juvenile myelomonocytic, somatic" EXACT [OMIM:607785, OMIM:g xref: DOID:0050458 {source="MONDO:equivalentTo"} xref: EFO:1000309 {source="MONDO:equivalentTo"} xref: GARD:0009884 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C93.3 {source="ORDO:86834/e", source="DOID:0050458", source="Orphanet:86834"} +xref: ICD10CM:C93.3 {source="DOID:0050458", source="Orphanet:86834", source="Orphanet:86834/e"} xref: ICD10CM:C93.30 {source="DOID:0050458"} xref: ICDO:9946/3 {source="NCIT:C9233"} -xref: MedDRA:10023249 {source="ORDO:86834/e", source="Orphanet:86834"} -xref: MESH:D054429 {source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834"} +xref: MedDRA:10023249 {source="Orphanet:86834", source="Orphanet:86834/e"} +xref: MESH:D054429 {source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e"} xref: NCIT:C9233 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo"} -xref: OMIM:607785 {source="EFO:1000309", source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834"} +xref: OMIM:607785 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e"} xref: ONCOTREE:JMML {source="MONDO:equivalentTo"} xref: Orphanet:86834 {source="MONDO:equivalentTo", source="OMIM:607785"} xref: SCTID:128832006 {source="DOID:0050458"} xref: SCTID:277587001 {source="DOID:0050458"} xref: SCTID:445227008 {source="DOID:0050458", source="MONDO:equivalentTo"} xref: UMLS:C0023480 {source="MONDO:subClassOf", source="OMIM:607785"} -xref: UMLS:C0349639 {source="NCIT:C9233", source="NCBI:mim2gene_medline", source="ORDO:86834/e", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="OMIM:607785"} +xref: UMLS:C0349639 {source="NCIT:C9233", source="NCBI:mim2gene_medline", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e", source="OMIM:607785"} is_a: MONDO:0006311 {source="DOID:0050458", source="MONDO:Redundant", source="NCIT:C9233", source="ONCOTREE:JMML", source="indirect"} ! myelodysplastic/myeloproliferative Neoplasm is_a: MONDO:0020311 ! chronic myelomonocytic leukemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1541 {source="OMIM:607785"} ! CBL @@ -235406,9 +235326,9 @@ synonym: "MPZ Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:pa synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207] xref: DOID:0110200 {source="MONDO:equivalentTo"} xref: GARD:0009207 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:100046", source="ORDO:100046/attributed", source="ORDO:100046/ntbt", source="DOID:0110200"} +xref: ICD10CM:G60.0 {source="Orphanet:100046", source="Orphanet:100046/attributed", source="Orphanet:100046/ntbt", source="DOID:0110200"} xref: MESH:C564333 {source="MONDO:equivalentTo"} -xref: OMIM:607791 {source="Orphanet:100046", source="ORDO:100046/e", source="MONDO:equivalentTo", source="DOID:0110200"} +xref: OMIM:607791 {source="Orphanet:100046", source="MONDO:equivalentTo", source="Orphanet:100046/e", source="DOID:0110200"} xref: Orphanet:100046 {source="MONDO:equivalentTo", source="OMIM:607791", source="DOID:0110200"} xref: SCTID:765747004 {source="MONDO:equivalentTo"} xref: UMLS:C1843075 {source="Orphanet:100046", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607791"} @@ -235425,10 +235345,10 @@ name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1C subset: ordo_disease {source="Orphanet:265"} xref: DOID:0110302 {source="MONDO:obsoleteEquivalent"} xref: GARD:0012527 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:265/inclusion", source="ORDO:265/ntbt", source="DOID:0110302", source="Orphanet:265"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110302", source="Orphanet:265/ntbt", source="Orphanet:265/inclusion", source="Orphanet:265"} xref: MESH:C563362 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C148318 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:607801 {source="DOID:0110302", source="MONDO:obsoleteEquivalent", source="ORDO:265/e", source="Orphanet:265"} +xref: OMIM:607801 {source="DOID:0110302", source="Orphanet:265/e", source="MONDO:obsoleteEquivalent", source="Orphanet:265"} xref: Orphanet:265 {source="DOID:0110302", source="OMIM:607801", source="MONDO:obsoleteEquivalent"} xref: SCTID:719986000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1832567 {source="OMIM:607801", source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:265"} @@ -235446,9 +235366,9 @@ synonym: "CLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607812] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [DOID:0070307] synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812] xref: DOID:0070307 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.8 {source="ORDO:50814/attributed", source="ORDO:50814/ntbt", source="Orphanet:50814"} +xref: ICD10CM:Q75.8 {source="Orphanet:50814/attributed", source="Orphanet:50814/ntbt", source="Orphanet:50814"} xref: MESH:C564332 {source="MONDO:equivalentTo"} -xref: OMIM:607812 {source="MONDO:equivalentTo", source="ORDO:50814/e", source="Orphanet:50814"} +xref: OMIM:607812 {source="Orphanet:50814/e", source="MONDO:equivalentTo", source="Orphanet:50814"} xref: Orphanet:50814 {source="OMIM:607812", source="MONDO:equivalentTo"} xref: SCTID:725100001 {source="MONDO:equivalentTo"} xref: UMLS:C1843042 {source="OMIM:607812", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:50814"} @@ -235467,8 +235387,7 @@ synonym: "autosomal recessive deafness 37" NARROW [DOID:0110495] synonym: "autosomal recessive nonsyndromic deafness 37" NARROW CLINGEN_PREFERRED [OMIM:607821] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 37" NARROW [DOID:0110495, MONDORULE:2] -synonym: "deafness, autosomal recessive 37" NARROW [OMIM:607821, OMIM:genemap2] -synonym: "deafness, autosomal recessive 37" NARROW [MONDO:Lexical, OMIM:607821] +synonym: "deafness, autosomal recessive 37" NARROW [MONDO:Lexical, OMIM:607821, OMIM:genemap2] synonym: "deafness, autosomal recessive type 37" NARROW [MONDORULE:2, OMIM:607821] synonym: "DFNB37" NARROW ABBREVIATION [DOID:0110495, MONDO:Lexical, OMIM:607821] synonym: "MYO6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -235519,7 +235438,7 @@ xref: UMLS:C1843013 {source="OMIM:607822", source="NCBI:mim2gene_medline", sourc xref: UMLS:C1843014 {source="OMIM:607822", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1843015 {source="OMIM:607822", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004975 {source="DOID:0110042", source="NCIT:C123412", source="indirect"} ! Alzheimer disease -is_a: MONDO:0015140 {source="MONDO:Redundant", source="ORDO:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="MONDO:Redundant", source="Orphanet:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease intersection_of: MONDO:0015140 ! early-onset autosomal dominant Alzheimer disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9508 ! PSEN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9508 {source="mim2gene_medgen"} ! PSEN1 @@ -235551,7 +235470,7 @@ synonym: "myxomatous mitral valve prolapse 2" RELATED [OMIM:607829] xref: MESH:C564326 {source="MONDO:equivalentTo"} xref: OMIM:607829 {source="MONDO:equivalentTo"} xref: UMLS:C1843003 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607829"} -is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:607829", source="ORDO:741/btnt", source="indirect"} ! familial mitral valve prolapse +is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:607829", source="Orphanet:741/btnt", source="indirect"} ! familial mitral valve prolapse relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13681 {source="mim2gene_medgen"} ! DCHS1 property_value: confidence "2.471428571428572" xsd:double @@ -235573,9 +235492,9 @@ synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [DOID:0110167] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [OMIM:607831] synonym: "CMT2K" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607831] xref: DOID:0110167 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110167", source="ORDO:101097/attributed", source="ORDO:101097/ntbt", source="Orphanet:101097"} -xref: OMIM:607706 {source="MONDO:superClassOf", source="ORDO:101097/btnt", source="Orphanet:101097"} -xref: OMIM:607831 {source="MONDO:equivalentTo", source="DOID:0110167", source="ORDO:101097/btnt", source="Orphanet:101097"} +xref: ICD10CM:G60.0 {source="Orphanet:101097/attributed", source="Orphanet:101097/ntbt", source="DOID:0110167", source="Orphanet:101097"} +xref: OMIM:607706 {source="Orphanet:101097/btnt", source="MONDO:superClassOf", source="Orphanet:101097"} +xref: OMIM:607831 {source="MONDO:equivalentTo", source="Orphanet:101097/btnt", source="DOID:0110167", source="Orphanet:101097"} xref: Orphanet:101097 {source="OMIM:607831", source="MONDO:equivalentTo", source="DOID:0110167"} xref: Orphanet:99944 {source="OMIM:607831", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: SCTID:725047007 {source="MONDO:equivalentTo"} @@ -235653,8 +235572,7 @@ synonym: "autosomal dominant deafness 48" NARROW [DOID:0110571] synonym: "autosomal dominant nonsyndromic deafness 48" NARROW [OMIM:607841] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO1A" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 48" NARROW [DOID:0110571, MONDORULE:2] -synonym: "deafness, autosomal dominant 48" NARROW [OMIM:607841, OMIM:genemap2] -synonym: "deafness, autosomal dominant 48" NARROW [MONDO:Lexical, OMIM:607841] +synonym: "deafness, autosomal dominant 48" NARROW [MONDO:Lexical, OMIM:607841, OMIM:genemap2] synonym: "deafness, autosomal dominant type 48" NARROW [MONDORULE:2, OMIM:607841] synonym: "DFNA48" NARROW ABBREVIATION [DOID:0110571, MONDO:Lexical, OMIM:607841] synonym: "MYO1A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -235680,7 +235598,7 @@ xref: MESH:C564321 {source="MONDO:equivalentTo"} xref: OMIM:607842 {source="MONDO:equivalentTo"} xref: Orphanet:141074 {source="MONDO:subClassOf", source="OMIM:607842"} xref: UMLS:C1842937 {source="OMIM:607842", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015385 {source="ORDO:141074/btnt"} ! external auditory canal aplasia/hypoplasia +is_a: MONDO:0015385 {source="Orphanet:141074/btnt"} ! external auditory canal aplasia/hypoplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10669 {source="mim2gene_medgen"} ! TSHZ1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -235694,9 +235612,9 @@ synonym: "adult idiopathic neutropenia" EXACT [Orphanet:2688] synonym: "neutropenia, nonimmune chronic idiopathic, of adults" EXACT [OMIM:607847] synonym: "NI-CINA" EXACT [OMIM:607847] synonym: "nonimmune chronic idiopathic neutropenia of adults" EXACT [OMIM:607847] -xref: ICD10CM:D70 {source="MONDO:relatedTo", source="ORDO:2688/ntbt", source="Orphanet:2688"} +xref: ICD10CM:D70 {source="MONDO:relatedTo", source="Orphanet:2688", source="Orphanet:2688/ntbt"} xref: MESH:C564320 {source="MONDO:equivalentTo"} -xref: OMIM:607847 {source="ORDO:2688/e", source="MONDO:equivalentTo", source="Orphanet:2688"} +xref: OMIM:607847 {source="MONDO:equivalentTo", source="Orphanet:2688", source="Orphanet:2688/e"} xref: Orphanet:2688 {source="OMIM:607847", source="MONDO:equivalentTo"} xref: UMLS:C1842930 {source="OMIM:607847", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2688"} is_a: MONDO:0003847 {source="OMIM:607847"} ! Mendelian disease @@ -235762,12 +235680,12 @@ synonym: "muscular dystrophy, congenital, merosin-deficient" RELATED [GARD:00038 xref: DOID:0110636 {source="MONDO:equivalentTo"} xref: EFO:0009138 {source="MONDO:equivalentTo"} xref: GARD:0003843 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="Orphanet:258", source="DOID:0110636", source="ORDO:258/attributed", source="ORDO:258/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:258", source="DOID:0110636", source="Orphanet:258/attributed", source="Orphanet:258/ntbt"} xref: NCIT:C118783 {source="MONDO:equivalentTo"} -xref: OMIM:607855 {source="Orphanet:258", source="DOID:0110636", source="MONDO:equivalentTo", source="ORDO:258/e"} +xref: OMIM:607855 {source="Orphanet:258", source="DOID:0110636", source="MONDO:equivalentTo", source="Orphanet:258/e"} xref: Orphanet:258 {source="OMIM:607855", source="DOID:0110636", source="MONDO:equivalentTo"} xref: SCTID:111503008 {source="MONDO:equivalentTo"} -xref: UMLS:C1263858 {source="Orphanet:258", source="NCIT:C118783", source="OMIM:607855", source="DOID:0110636", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:258/e"} +xref: UMLS:C1263858 {source="Orphanet:258", source="NCIT:C118783", source="OMIM:607855", source="DOID:0110636", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:258/e"} xref: UMLS:C1842898 {source="OMIM:607855", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016149 {source="Orphanet:258"} ! qualitative or quantitative defects of merosin is_a: MONDO:0019950 {source="DOID:0110636", source="MONDO:Redundant", source="Orphanet:258"} ! congenital muscular dystrophy @@ -235813,15 +235731,15 @@ synonym: "tufted hemangioma of the skin" EXACT [NCIT:C4487] synonym: "tufted skin angioma" EXACT [NCIT:C4487] xref: GARD:0000425 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HP:0012329 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D18.0 {source="ORDO:1063/attributed", source="ORDO:1063/ntbt", source="Orphanet:1063"} +xref: ICD10CM:D18.0 {source="Orphanet:1063/attributed", source="Orphanet:1063/ntbt", source="Orphanet:1063"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9161/0 {source="NCIT:C4487"} -xref: MESH:C536924 {source="MONDO:equivalentTo", source="ORDO:1063/e", source="Orphanet:1063"} +xref: MESH:C536924 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"} xref: NCIT:C4487 {source="MONDO:equivalentTo"} -xref: OMIM:607859 {source="MONDO:equivalentTo", source="ORDO:1063/e", source="Orphanet:1063"} +xref: OMIM:607859 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"} xref: Orphanet:1063 {source="MONDO:equivalentTo", source="OMIM:607859"} xref: SCTID:705155008 {source="MONDO:equivalentTo"} -xref: UMLS:C0346073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4487", source="OMIM:607859", source="ORDO:1063/e", source="Orphanet:1063"} +xref: UMLS:C0346073 {source="NCBI:mim2gene_medline", source="Orphanet:1063/e", source="MONDO:equivalentTo", source="NCIT:C4487", source="OMIM:607859", source="Orphanet:1063"} is_a: MONDO:0003110 {source="NCIT:C4487"} ! skin hemangioma is_a: MONDO:0024296 {source="Orphanet:1063", source="indirect"} ! vascular neoplasm relationship: has_modifier MONDO:0021136 {source="MONDO:0016228"} ! rare @@ -235838,12 +235756,12 @@ synonym: "caudal DUPLICATION anomaly" RELATED [OMIM:607864] synonym: "dipygus" EXACT [Orphanet:1756] synonym: "split notochord syndrome" EXACT [Orphanet:1756] xref: GARD:0001164 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1756/attributed", source="ORDO:1756/ntbt", source="Orphanet:1756"} +xref: ICD10CM:Q87.8 {source="Orphanet:1756", source="Orphanet:1756/attributed", source="Orphanet:1756/ntbt"} xref: MESH:C564315 {source="MONDO:equivalentTo"} -xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="ORDO:1756/e"} +xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="Orphanet:1756/e"} xref: Orphanet:1756 {source="OMIM:607864", source="MONDO:equivalentTo"} xref: SCTID:71464000 {source="MONDO:equivalentTo"} -xref: UMLS:C0266688 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1756", source="ORDO:1756/e"} +xref: UMLS:C0266688 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1756", source="Orphanet:1756/e"} xref: UMLS:C0544738 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001164"} xref: UMLS:C1842884 {source="OMIM:607864", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1756"} is_a: MONDO:0015246 {source="Orphanet:1756"} ! syndromic anorectal malformation @@ -235870,14 +235788,14 @@ synonym: "monosomy 1pter" EXACT [Orphanet:1606] synonym: "subtelomeric 1p36 deletion" EXACT [DOID:0060410, Orphanet:1606] xref: DOID:0060410 {source="MONDO:equivalentTo"} xref: GARD:0006082 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:1606", source="ORDO:1606/attributed", source="ORDO:1606/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:1606/attributed", source="Orphanet:1606/ntbt", source="Orphanet:1606"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535362 {source="DOID:0060410", source="MONDO:equivalentTo"} xref: NCIT:C74983 {source="DOID:0060410", source="MONDO:equivalentTo"} -xref: OMIM:607872 {source="DOID:0060410", source="MONDO:equivalentTo", source="Orphanet:1606", source="ORDO:1606/e"} +xref: OMIM:607872 {source="Orphanet:1606/e", source="DOID:0060410", source="MONDO:equivalentTo", source="Orphanet:1606"} xref: Orphanet:1606 {source="DOID:0060410", source="MONDO:equivalentTo", source="OMIM:607872"} xref: SCTID:699306003 {source="DOID:0060410", source="MONDO:equivalentTo"} -xref: UMLS:C1842870 {source="DOID:0060410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607872", source="Orphanet:1606", source="ORDO:1606/e"} +xref: UMLS:C1842870 {source="Orphanet:1606/e", source="DOID:0060410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607872", source="Orphanet:1606"} is_a: MONDO:0000761 {source="DC-OMIM:607872", source="DOID:0060410"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0016883 {source="Orphanet:1606"} ! partial deletion of the short arm of chromosome 1 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -235915,7 +235833,7 @@ is_a: MONDO:0000160 {source="DC-OMIM:607876", source="MONDO:Redundant", source=" intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/282 ! ADRA2B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/282 {source="mim2gene_medgen"} ! ADRA2B -relationship: excluded_subClassOf MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy +relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt"} ! benign adult familial myoclonic epilepsy property_value: confidence "0.11978947957783914" xsd:double [Term] @@ -235951,7 +235869,7 @@ xref: OMIM:607903 {source="DOID:0110703", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="MONDO:subClassOf", source="OMIM:607903"} xref: UMLS:C1842839 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607903"} is_a: MONDO:0003037 {source="DOID:0110703", source="MESH:C564312", source="MONDO:Redundant", source="OMIM:607903", source="indirect"} ! hypotrichosis -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21307 ! DSG4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21307 {source="mim2gene_medgen"} ! DSG4 @@ -235976,8 +235894,8 @@ synonym: "congenital disorder of glycosylation, type II" RELATED [MONDO:Lexical, synonym: "mannosyltransferase 2 deficiency" EXACT [Orphanet:79326] xref: DOID:0080561 {source="MONDO:equivalentTo"} xref: GARD:0009836 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79326", source="ORDO:79326/attributed", source="ORDO:79326/ntbt"} -xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source="ORDO:79326/e"} +xref: ICD10CM:E77.8 {source="Orphanet:79326", source="Orphanet:79326/attributed", source="Orphanet:79326/ntbt"} +xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source="Orphanet:79326/e"} xref: Orphanet:79326 {source="MONDO:equivalentTo", source="OMIM:607906"} xref: UMLS:C1842836 {source="Orphanet:79326", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607906"} is_a: MONDO:0005066 ! metabolic disease @@ -236004,13 +235922,13 @@ synonym: "giant cell fibroblastoma" RELATED [OMIM:607907] synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569] xref: DOID:3507 {source="MONDO:equivalentTo"} xref: GARD:0009569 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="Orphanet:31112", source="ORDO:31112/attributed", source="ORDO:31112/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:31112", source="Orphanet:31112/attributed", source="Orphanet:31112/ntbt"} xref: ICDO:8832/3 {source="NCIT:C4683"} -xref: MedDRA:10057070 {source="Orphanet:31112", source="ORDO:31112/e"} -xref: MESH:C538219 {source="Orphanet:31112", source="ORDO:31112/e"} +xref: MedDRA:10057070 {source="Orphanet:31112", source="Orphanet:31112/e"} +xref: MESH:C538219 {source="Orphanet:31112", source="Orphanet:31112/e"} xref: MESH:D018223 {source="MONDO:equivalentTo", source="DOID:3507"} xref: NCIT:C4683 {source="MONDO:equivalentTo"} -xref: OMIM:607907 {source="Orphanet:31112", source="MONDO:equivalentTo", source="ORDO:31112/e"} +xref: OMIM:607907 {source="Orphanet:31112", source="MONDO:equivalentTo", source="Orphanet:31112/e"} xref: ONCOTREE:DFSP {source="MONDO:equivalentTo"} xref: Orphanet:31112 {source="MONDO:equivalentTo", source="OMIM:607907"} xref: SCTID:134160009 {source="DOID:3507"} @@ -236018,7 +235936,7 @@ xref: SCTID:276799004 {source="MONDO:equivalentTo", source="DOID:3507"} xref: SCTID:302844005 {source="DOID:3507"} xref: SCTID:76594008 {source="DOID:3507"} xref: UMLS:C0206647 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3507"} -xref: UMLS:C0392784 {source="Orphanet:31112", source="NCIT:C4683", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607907", source="ORDO:31112/e"} +xref: UMLS:C0392784 {source="Orphanet:31112", source="NCIT:C4683", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:31112/e", source="OMIM:607907"} xref: UMLS:C3693482 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:607907"} is_a: MONDO:0000653 {source="MONDO:Redundant", source="indirect"} ! integumentary system cancer is_a: MONDO:0005164 {source="DOID:3507", source="linkedlifedata"} ! fibrosarcoma @@ -236067,9 +235985,9 @@ synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical, OMIM:607932] synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1, OMIM:607932] synonym: "syndromic microphthalmia type 6" EXACT [Orphanet:139471] xref: GARD:0003645 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q11.2 {source="ORDO:139471/attributed", source="ORDO:139471/ntbt", source="Orphanet:139471"} +xref: ICD10CM:Q11.2 {source="Orphanet:139471", source="Orphanet:139471/attributed", source="Orphanet:139471/ntbt"} xref: MESH:C566440 {source="MONDO:equivalentTo"} -xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source="ORDO:139471/e"} +xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source="Orphanet:139471/e"} xref: Orphanet:139471 {source="OMIM:607932", source="MONDO:equivalentTo"} xref: SCTID:721878003 {source="MONDO:equivalentTo"} xref: UMLS:C1864689 {source="OMIM:607932", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139471"} @@ -236094,7 +236012,7 @@ xref: OMIM:607936 {source="MONDO:equivalentTo"} xref: Orphanet:289586 {source="MONDO:subClassOf", source="OMIM:607936"} xref: UMLS:C1842797 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607936"} xref: UMLS:C4225407 {source="MONDO:equivalentTo"} -is_a: MONDO:0017339 {source="ORDO:289586/btnt"} ! exfoliative ichthyosis +is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis is_a: MONDO:0019347 {source="DC-OMIM:607936", source="MONDO:Redundant", source="OMIM:607936"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2481 ! CSTA @@ -236141,18 +236059,18 @@ synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [O synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [OMIM:271550, Orphanet:1855] xref: EFO:0002326 {source="MONDO:equivalentTo"} xref: GARD:0004978 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:1855/attributed", source="ORDO:1855/ntbt", source="Orphanet:1855"} +xref: ICD10CM:Q77.7 {source="Orphanet:1855", source="Orphanet:1855/attributed", source="Orphanet:1855/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535782 {source="MONDO:relatedTo", source="Orphanet:1855", source="ORDO:1855/e"} +xref: MESH:C535782 {source="MONDO:relatedTo", source="Orphanet:1855", source="Orphanet:1855/e"} xref: MESH:C564307 {source="MONDO:equivalentTo"} -xref: OMIM:271550 {source="MONDO:equivalentTo", source="Orphanet:1855", source="ORDO:1855/e"} +xref: OMIM:271550 {source="MONDO:equivalentTo", source="Orphanet:1855", source="Orphanet:1855/e"} xref: OMIM:607944 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:1855 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:271550"} xref: Orphanet:50816 {source="OMIM:607944", source="MONDO:equivalentTo"} xref: SCTID:254079002 {source="MONDO:relatedTo"} xref: SCTID:703523004 {source="MONDO:equivalentTo"} -xref: UMLS:C0432222 {source="MONDO:relatedTo", source="Orphanet:1855", source="ORDO:1855/e", source="OMIM:271550"} +xref: UMLS:C0432222 {source="MONDO:relatedTo", source="Orphanet:1855", source="OMIM:271550", source="Orphanet:1855/e"} xref: UMLS:C1842763 {source="OMIM:607944", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MESH:C564307/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0016763 {source="OMIM:607944", source="Orphanet:1855"} ! spondylometaphyseal dysplasia @@ -236250,9 +236168,9 @@ synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176 synonym: "perinatal lethal Gaucher disease" EXACT [GARD:0010675, Orphanet:85212] xref: DOID:0110960 {source="MONDO:equivalentTo"} xref: GARD:0010675 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:85212", source="ORDO:85212/attributed", source="ORDO:85212/ntbt", source="DOID:0110960"} +xref: ICD10CM:E75.2 {source="Orphanet:85212/attributed", source="Orphanet:85212/ntbt", source="Orphanet:85212", source="DOID:0110960"} xref: MESH:C564306 {source="MONDO:equivalentTo"} -xref: OMIM:608013 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="ORDO:85212/e", source="DOID:0110960"} +xref: OMIM:608013 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="Orphanet:85212/e", source="DOID:0110960"} xref: Orphanet:355 {source="MONDO:subClassOf", source="OMIM:608013"} xref: Orphanet:85212 {source="MONDO:equivalentTo", source="GARD:0010675", source="OMIM:608013", source="DOID:0110960"} xref: UMLS:C1842704 {source="Orphanet:85212", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010675", source="OMIM:608013"} @@ -236269,9 +236187,9 @@ def: "Diaphanospondylodysostosis is characterized by absent ossification of the subset: ordo_malformation_syndrome {source="Orphanet:66637"} synonym: "diaphanospondylodysostosis" EXACT CLINGEN_PREFERRED [OMIM:608022] synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022] -xref: ICD10CM:Q78.8 {source="Orphanet:66637", source="ORDO:66637/attributed", source="ORDO:66637/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:66637", source="Orphanet:66637/attributed", source="Orphanet:66637/ntbt"} xref: MESH:C564305 {source="MONDO:equivalentTo"} -xref: OMIM:608022 {source="ORDO:66637/e", source="MONDO:equivalentTo", source="Orphanet:66637"} +xref: OMIM:608022 {source="MONDO:equivalentTo", source="Orphanet:66637", source="Orphanet:66637/e"} xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"} xref: SCTID:721094006 {source="MONDO:equivalentTo"} xref: UMLS:C1842691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:66637", source="OMIM:608022"} @@ -236305,12 +236223,12 @@ synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pat synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027] xref: DOID:0060272 {source="MONDO:equivalentTo"} xref: GARD:0010708 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:97249", source="ORDO:97249/attributed", source="ORDO:97249/ntbt"} -xref: MESH:C548072 {source="ORDO:97249/e", source="Orphanet:97249", source="MONDO:equivalentTo", source="DOID:0060272"} -xref: OMIM:608027 {source="ORDO:97249/e", source="Orphanet:97249", source="MONDO:equivalentTo", source="DOID:0060272"} +xref: ICD10CM:Q04.3 {source="Orphanet:97249/attributed", source="Orphanet:97249/ntbt", source="Orphanet:97249"} +xref: MESH:C548072 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} +xref: OMIM:608027 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} xref: Orphanet:97249 {source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"} xref: SCTID:718609003 {source="MONDO:equivalentTo"} -xref: UMLS:C1842687 {source="ORDO:97249/e", source="Orphanet:97249", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"} +xref: UMLS:C1842687 {source="Orphanet:97249", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272", source="OMIM:608027"} is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="MONDO:Redundant", source="OMIM:608027", source="Orphanet:97249", source="linkedlifedata"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13406 ! PCLO @@ -236343,9 +236261,9 @@ synonym: "spinocerebellar ataxia autosomal recessive 6" RELATED [GARD:0004954] synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:608029] xref: DOID:0111617 {source="MONDO:equivalentTo"} xref: GARD:0004954 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.0 {source="ORDO:284332/attributed", source="ORDO:284332/ntbt", source="Orphanet:284332"} +xref: ICD10CM:G11.0 {source="Orphanet:284332", source="Orphanet:284332/attributed", source="Orphanet:284332/ntbt"} xref: MESH:C537312 {source="MONDO:equivalentTo"} -xref: OMIM:608029 {source="ORDO:284332/e", source="MONDO:equivalentTo", source="Orphanet:284332"} +xref: OMIM:608029 {source="MONDO:equivalentTo", source="Orphanet:284332", source="Orphanet:284332/e"} xref: Orphanet:284332 {source="OMIM:608029", source="MONDO:equivalentTo"} xref: UMLS:C1842676 {source="OMIM:608029", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:284332"} is_a: MONDO:0015244 {source="Orphanet:284332"} ! autosomal recessive cerebellar ataxia @@ -236372,7 +236290,7 @@ xref: Orphanet:803 {source="MONDO:subClassOf", source="OMIM:608030"} xref: UMLS:C1842675 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608030"} xref: UMLS:C2750729 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:608030"} is_a: MONDO:0005144 {source="DOID:0060198", source="MESH:C567699", source="MONDO:Redundant", source="OMIM:608030", source="indirect"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="ORDO:275872/btnt"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4010 ! FUS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4010 {source="mim2gene_medgen"} ! FUS @@ -236416,7 +236334,7 @@ synonym: "susceptibility to acute infection-induced encephalopathy-3" RELATED [G synonym: "susceptibility to acute necrotizing encephalopathy" RELATED [GARD:0013232] synonym: "susceptibility to infection-induced acute encephalopathy 3" RELATED [GARD:0013232] xref: GARD:0013232 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:608033 {source="MONDO:equivalentTo", source="ORDO:88619/e", source="Orphanet:88619"} +xref: OMIM:608033 {source="Orphanet:88619/e", source="MONDO:equivalentTo", source="Orphanet:88619"} xref: Orphanet:88619 {source="MONDO:equivalentTo", source="OMIM:608033"} xref: SCTID:723359002 {source="MONDO:equivalentTo"} xref: UMLS:C2675556 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608033"} @@ -236437,7 +236355,7 @@ synonym: "melanoma, cutaneous malignant, susceptibility to, 4" EXACT [MONDO:Lexi xref: OMIM:608035 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:608035"} xref: UMLS:C1842643 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608035"} -is_a: MONDO:0018961 {source="MONDO:Redundant", source="ORDO:618/btnt", source="indirect"} ! familial melanoma +is_a: MONDO:0018961 {source="MONDO:Redundant", source="Orphanet:618/btnt", source="indirect"} ! familial melanoma is_a: MONDO:0024462 {source="OMIM", source="OMIM:608035"} ! familial cutaneous melanoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.6325000000000003" xsd:double @@ -236477,9 +236395,9 @@ subset: ordo_disease {source="Orphanet:319640"} synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical, OMIM:608051] synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1, OMIM:608051] synonym: "MCDR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608051, Orphanet:319640] -xref: ICD10CM:H35.5 {source="ORDO:319640/attributed", source="ORDO:319640/ntbt", source="MONDO:relatedTo", source="Orphanet:319640"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:319640", source="Orphanet:319640/attributed", source="Orphanet:319640/ntbt"} xref: MESH:C562746 {source="MONDO:equivalentTo"} -xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="ORDO:319640/e"} +xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="Orphanet:319640/e"} xref: Orphanet:319640 {source="OMIM:608051", source="MONDO:equivalentTo"} xref: UMLS:C0339512 {source="OMIM:608051", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:319640"} is_a: MONDO:0020242 {source="Orphanet:319640"} ! genetic macular dystrophy @@ -236507,15 +236425,15 @@ synonym: "Gomm-button disease" RELATED [OMIM:608068] synonym: "neutrophilic dermatosis, acute febrile" RELATED [OMIM:608068] synonym: "sweet syndrome" EXACT [OMIM:608068] xref: GARD:0000521 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:L98.2 {source="Orphanet:3243", source="ORDO:3243/e"} +xref: ICD10CM:L98.2 {source="Orphanet:3243", source="Orphanet:3243/e"} xref: ICD9:702.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10000748 {source="Orphanet:3243", source="ORDO:3243/e"} -xref: MESH:D016463 {source="Orphanet:3243", source="MONDO:equivalentTo", source="ORDO:3243/e"} +xref: MedDRA:10000748 {source="Orphanet:3243", source="Orphanet:3243/e"} +xref: MESH:D016463 {source="Orphanet:3243", source="MONDO:equivalentTo", source="Orphanet:3243/e"} xref: NCIT:C85177 {source="MONDO:equivalentTo"} -xref: OMIM:608068 {source="Orphanet:3243", source="MONDO:equivalentTo", source="ORDO:3243/e"} +xref: OMIM:608068 {source="Orphanet:3243", source="MONDO:equivalentTo", source="Orphanet:3243/e"} xref: Orphanet:3243 {source="MONDO:equivalentTo", source="OMIM:608068"} xref: SCTID:84625002 {source="MONDO:equivalentTo"} -xref: UMLS:C0085077 {source="Orphanet:3243", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608068", source="NCIT:C85177", source="ORDO:3243/e"} +xref: UMLS:C0085077 {source="Orphanet:3243", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3243/e", source="OMIM:608068", source="NCIT:C85177"} is_a: MONDO:0002254 {source="NCIT:C85177"} ! syndromic disease is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0005554 {source="Orphanet:3243"} ! rheumatic disorder @@ -236553,9 +236471,9 @@ synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and g synonym: "neuropathy, hereditary sensory, type 1B" RELATED [OMIM:608088] synonym: "neuropathy, hereditary sensory, type IB" EXACT [OMIM:608088, OMIM:genemap2] xref: DOID:0070148 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.8 {source="ORDO:139564/attributed", source="ORDO:139564/ntbt", source="Orphanet:139564"} +xref: ICD10CM:G60.8 {source="Orphanet:139564/attributed", source="Orphanet:139564/ntbt", source="Orphanet:139564"} xref: MESH:C564296 {source="MONDO:equivalentTo"} -xref: OMIM:608088 {source="DOID:0070148", source="MONDO:equivalentTo", source="ORDO:139564/e", source="Orphanet:139564"} +xref: OMIM:608088 {source="Orphanet:139564/e", source="DOID:0070148", source="MONDO:equivalentTo", source="Orphanet:139564"} xref: Orphanet:139564 {source="DOID:0070148", source="MONDO:equivalentTo", source="OMIM:608088"} xref: PMID:12870133 {source="DOID:0070148"} xref: PMID:16311270 {source="DOID:0070148"} @@ -236651,10 +236569,10 @@ synonym: "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency synonym: "DPAGT1-CDG (CDG-Ij)" RELATED [GARD:0009837] xref: DOID:0080562 {source="MONDO:equivalentTo"} xref: GARD:0009837 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:86309/attributed", source="ORDO:86309/ntbt", source="Orphanet:86309"} +xref: ICD10CM:E77.8 {source="Orphanet:86309/attributed", source="Orphanet:86309/ntbt", source="Orphanet:86309"} xref: MESH:C535748 {source="MONDO:equivalentTo"} xref: NCIT:C126874 {source="MONDO:equivalentTo"} -xref: OMIM:608093 {source="MONDO:equivalentTo", source="ORDO:86309/e", source="Orphanet:86309"} +xref: OMIM:608093 {source="Orphanet:86309/e", source="MONDO:equivalentTo", source="Orphanet:86309"} xref: Orphanet:86309 {source="OMIM:608093", source="MONDO:equivalentTo"} xref: SCTID:725079003 {source="MONDO:equivalentTo"} xref: UMLS:C1842572 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -236681,12 +236599,12 @@ synonym: "Ftle" RELATED [OMIM:608096] synonym: "temporal epilepsy, familial" RELATED [GARD:0005135] xref: DOID:0060755 {source="MONDO:equivalentTo"} xref: GARD:0005135 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.2 {source="ORDO:98819/attributed", source="ORDO:98819/ntbt", source="Orphanet:98819"} -xref: MESH:C536956 {source="MONDO:equivalentTo", source="ORDO:98819/e", source="Orphanet:98819"} -xref: OMIM:608096 {source="MONDO:equivalentTo", source="DOID:0060755", source="ORDO:98819/e", source="Orphanet:98819"} -xref: OMIM:611631 {source="ORDO:98819/btnt", source="MONDO:superClassOf", source="Orphanet:98819"} +xref: ICD10CM:G40.2 {source="Orphanet:98819/attributed", source="Orphanet:98819/ntbt", source="Orphanet:98819"} +xref: MESH:C536956 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="Orphanet:98819"} +xref: OMIM:608096 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="DOID:0060755", source="Orphanet:98819"} +xref: OMIM:611631 {source="MONDO:superClassOf", source="Orphanet:98819/btnt", source="Orphanet:98819"} xref: Orphanet:98819 {source="MONDO:equivalentTo", source="OMIM:608096", source="DOID:0060755"} -xref: UMLS:C1842564 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608096", source="ORDO:98819/e", source="Orphanet:98819"} +xref: UMLS:C1842564 {source="Orphanet:98819/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608096", source="Orphanet:98819"} is_a: MONDO:0005115 {source="DC-OMIM:608096", source="DOID:0060755", source="MESH:C536956", source="OMIM:608096"} ! temporal lobe epilepsy is_a: MONDO:0017704 {source="Orphanet:98819"} ! familial partial epilepsy property_value: confidence "1.4868421052631575" xsd:double @@ -236742,13 +236660,13 @@ synonym: "primary adhalinopathy" EXACT [DOID:0110278] synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110278 {source="MONDO:equivalentTo"} xref: GARD:0000438 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:62/inclusion", source="DOID:0110278", source="ORDO:62/ntbt", source="Orphanet:62"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:62/ntbt", source="Orphanet:62/inclusion", source="DOID:0110278", source="Orphanet:62"} xref: NCIT:C142081 {source="MONDO:equivalentTo"} -xref: OMIM:608099 {source="MONDO:equivalentTo", source="ORDO:62/e", source="DOID:0110278", source="Orphanet:62"} +xref: OMIM:608099 {source="Orphanet:62/e", source="MONDO:equivalentTo", source="DOID:0110278", source="Orphanet:62"} xref: Orphanet:62 {source="MONDO:equivalentTo", source="OMIM:608099", source="DOID:0110278"} xref: SCTID:715340002 {source="MONDO:equivalentTo"} -xref: UMLS:C1842550 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608099", source="ORDO:62/e", source="Orphanet:62"} -xref: UMLS:C2936332 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:62/e", source="Orphanet:62"} +xref: UMLS:C1842550 {source="NCBI:mim2gene_medline", source="Orphanet:62/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608099", source="Orphanet:62"} +xref: UMLS:C2936332 {source="Orphanet:62/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:62"} is_a: MONDO:0015152 {source="DOID:0110278", source="MONDO:Redundant", source="OMIM:608099", source="Orphanet:62"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016141 {source="Orphanet:62"} ! qualitative or quantitative defects of alpha-sarcoglycan is_a: MONDO:0016333 ! familial dilated cardiomyopathy @@ -236778,9 +236696,9 @@ synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical, synonym: "glucosyltransferase 2 deficiency" EXACT [Orphanet:79325] xref: DOID:0080560 {source="MONDO:equivalentTo"} xref: GARD:0009834 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79325", source="ORDO:79325/attributed", source="ORDO:79325/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:79325", source="Orphanet:79325/attributed", source="Orphanet:79325/ntbt"} xref: MESH:C535746 {source="MONDO:equivalentTo"} -xref: OMIM:608104 {source="Orphanet:79325", source="MONDO:equivalentTo", source="ORDO:79325/e"} +xref: OMIM:608104 {source="Orphanet:79325", source="MONDO:equivalentTo", source="Orphanet:79325/e"} xref: Orphanet:79325 {source="MONDO:equivalentTo", source="OMIM:608104"} xref: SCTID:720977000 {source="MONDO:equivalentTo"} xref: UMLS:C1842539 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -236805,10 +236723,10 @@ synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writ synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608105] synonym: "Re-ped-Wc" RELATED [OMIM:608105] xref: DOID:0111645 {source="MONDO:equivalentTo"} -xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="ORDO:163727/e"} -xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="ORDO:163727/e"} +xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} +xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: Orphanet:163727 {source="MONDO:equivalentTo", source="OMIM:608105"} -xref: UMLS:C1842531 {source="Orphanet:163727", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608105", source="ORDO:163727/e"} +xref: UMLS:C1842531 {source="Orphanet:163727", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163727/e", source="OMIM:608105"} is_a: MONDO:0020072 {source="Orphanet:163727"} ! childhood-onset epilepsy syndrome relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "3.533333333333334" xsd:double @@ -236832,8 +236750,8 @@ synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM: synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060759 {source="MONDO:equivalentTo"} xref: GARD:0010581 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.5 {source="ORDO:101092/attributed", source="ORDO:101092/ntbt", source="Orphanet:101092", source="DOID:0060759"} -xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source="ORDO:101092/e", source="DOID:0060759"} +xref: ICD10CM:D80.5 {source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/attributed", source="Orphanet:101092/ntbt"} +xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/e"} xref: Orphanet:101092 {source="OMIM:608106", source="MONDO:equivalentTo", source="DOID:0060759"} xref: Orphanet:183666 {source="MONDO:subClassOf", source="OMIM:608106", source="DOID:0060759"} xref: UMLS:C1720958 {source="OMIM:608106", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:101092"} @@ -236855,14 +236773,14 @@ synonym: "ovarian hyperstimulation syndrome" EXACT [MONDO:Lexical, OMIM:608115] synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [OMIM:608115] synonym: "secondary Meig's syndrome" EXACT [DOID:5425] xref: DOID:5425 {source="MONDO:equivalentTo"} -xref: ICD10CM:N98.1 {source="ORDO:64739/e", source="Orphanet:64739", source="ORDO:64739/specific"} +xref: ICD10CM:N98.1 {source="Orphanet:64739/e", source="Orphanet:64739/specific", source="Orphanet:64739"} xref: ICD9:256.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10033266 {source="ORDO:64739/e", source="Orphanet:64739"} -xref: MESH:D016471 {source="DOID:5425", source="MONDO:equivalentTo", source="ORDO:64739/e", source="Orphanet:64739"} -xref: OMIM:608115 {source="DOID:5425", source="MONDO:equivalentTo", source="ORDO:64739/e", source="Orphanet:64739"} +xref: MedDRA:10033266 {source="Orphanet:64739/e", source="Orphanet:64739"} +xref: MESH:D016471 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"} +xref: OMIM:608115 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"} xref: Orphanet:64739 {source="MONDO:equivalentTo", source="OMIM:608115"} xref: SCTID:129635004 {source="DOID:5425", source="MONDO:equivalentTo"} -xref: UMLS:C0085083 {source="DOID:5425", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:64739/e", source="Orphanet:64739", source="OMIM:608115"} +xref: UMLS:C0085083 {source="Orphanet:64739/e", source="DOID:5425", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:64739", source="OMIM:608115"} is_a: MONDO:0002263 {source="MONDO:0015875-obsoleted", source="MONDO:Entailed", source="Orphanet:64739"} ! female reproductive system disorder is_a: MONDO:0005558 {source="DOID:5425", source="MESH:D016471", source="linkedlifedata"} ! ovarian disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3969 {source="mim2gene_medgen"} ! FSHR @@ -236924,13 +236842,13 @@ synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149] synonym: "UPD(14)pat" EXACT [Orphanet:96334] xref: GARD:0005409 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="Orphanet:96334", source="ORDO:96334/attributed", source="ORDO:96334/ntbt"} -xref: MESH:C536471 {source="ORDO:96334/e", source="Orphanet:96334", source="MONDO:equivalentTo"} +xref: ICD10CM:Q99.8 {source="Orphanet:96334", source="Orphanet:96334/attributed", source="Orphanet:96334/ntbt"} +xref: MESH:C536471 {source="Orphanet:96334", source="MONDO:equivalentTo", source="Orphanet:96334/e"} xref: OMIM:608149 {source="MONDO:equivalentTo"} xref: Orphanet:254519 {source="MONDO:subClassOf", source="OMIM:608149"} xref: Orphanet:263049 {source="GARD:0005409"} xref: Orphanet:96334 {source="MONDO:equivalentTo"} -xref: UMLS:C1842466 {source="ORDO:96334/e", source="Orphanet:96334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608149"} +xref: UMLS:C1842466 {source="Orphanet:96334", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:96334/e", source="OMIM:608149"} is_a: MONDO:0016779 {source="Orphanet:96334"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr14 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 14 (Human) @@ -236945,9 +236863,9 @@ subset: ordo_disease {source="Orphanet:50811"} synonym: "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones" RELATED [OMIM:608154] synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED DEPRECATED [OMIM:608154] synonym: "Rajab-Spranger syndrome" EXACT [Orphanet:50811] -xref: ICD10CM:Q78.8 {source="ORDO:50811/attributed", source="ORDO:50811/ntbt", source="Orphanet:50811"} +xref: ICD10CM:Q78.8 {source="Orphanet:50811", source="Orphanet:50811/attributed", source="Orphanet:50811/ntbt"} xref: MESH:C564283 {source="MONDO:equivalentTo"} -xref: OMIM:608154 {source="MONDO:equivalentTo", source="ORDO:50811/e", source="Orphanet:50811"} +xref: OMIM:608154 {source="MONDO:equivalentTo", source="Orphanet:50811", source="Orphanet:50811/e"} xref: Orphanet:50811 {source="MONDO:equivalentTo", source="OMIM:608154"} xref: SCTID:721973006 {source="MONDO:equivalentTo"} xref: UMLS:C1842465 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608154", source="Orphanet:50811"} @@ -236969,9 +236887,9 @@ synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical, OMIM:608156] synonym: "Nablus mask-like facial syndrome" EXACT [Orphanet:178303] synonym: "NMLFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608156] xref: GARD:0004722 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:178303/attributed", source="ORDO:178303/ntbt", source="Orphanet:178303"} +xref: ICD10CM:Q93.5 {source="Orphanet:178303", source="Orphanet:178303/attributed", source="Orphanet:178303/ntbt"} xref: MESH:C536110 {source="MONDO:equivalentTo"} -xref: OMIM:608156 {source="ORDO:178303/e", source="MONDO:equivalentTo", source="Orphanet:178303"} +xref: OMIM:608156 {source="MONDO:equivalentTo", source="Orphanet:178303", source="Orphanet:178303/e"} xref: Orphanet:178303 {source="MONDO:equivalentTo", source="OMIM:608156"} xref: SCTID:719664004 {source="MONDO:equivalentTo"} xref: UMLS:C1842464 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:178303", source="OMIM:608156"} @@ -237019,11 +236937,11 @@ synonym: "pseudo-Best disease" EXACT [Orphanet:99000] synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000] synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608161] xref: GARD:0010909 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:99000/attributed", source="ORDO:99000/ntbt", source="Orphanet:99000"} -xref: OMIM:153840 {source="ORDO:99000/btnt", source="MONDO:superClassOf", source="Orphanet:99000"} -xref: OMIM:608161 {source="MONDO:superClassOf", source="ORDO:99000/e", source="Orphanet:99000"} -xref: OMIM:616151 {source="ORDO:99000/btnt", source="MONDO:superClassOf", source="Orphanet:99000"} -xref: OMIM:616152 {source="ORDO:99000/btnt", source="MONDO:superClassOf", source="Orphanet:99000"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99000/attributed", source="Orphanet:99000/ntbt", source="Orphanet:99000"} +xref: OMIM:153840 {source="MONDO:superClassOf", source="Orphanet:99000/btnt", source="Orphanet:99000"} +xref: OMIM:608161 {source="Orphanet:99000/e", source="MONDO:superClassOf", source="Orphanet:99000"} +xref: OMIM:616151 {source="MONDO:superClassOf", source="Orphanet:99000/btnt", source="Orphanet:99000"} +xref: OMIM:616152 {source="MONDO:superClassOf", source="Orphanet:99000/btnt", source="Orphanet:99000"} xref: Orphanet:99000 {source="OMIM:608161", source="MONDO:equivalentTo"} xref: SCTID:232049001 {source="MONDO:equivalentTo"} xref: UMLS:C1842914 {source="MONDO:equivalentTo"} @@ -237095,10 +237013,10 @@ synonym: "synpolydactyly type 2" EXACT [MONDORULE:1, OMIM:608180] synonym: "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" EXACT [OMIM:608180, OMIM:genemap2] synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [OMIM:608180] synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197] -xref: ICD10CM:Q70.0 {source="Orphanet:295197", source="ORDO:295197/nd", source="ORDO:295197/attributed"} -xref: ICD10CM:Q70.2 {source="Orphanet:295197", source="ORDO:295197/nd", source="ORDO:295197/attributed"} +xref: ICD10CM:Q70.0 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} +xref: ICD10CM:Q70.2 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} xref: MESH:C564278 {source="MONDO:equivalentTo"} -xref: OMIM:608180 {source="Orphanet:295197", source="ORDO:295197/e", source="MONDO:equivalentTo"} +xref: OMIM:608180 {source="Orphanet:295197", source="MONDO:equivalentTo", source="Orphanet:295197/e"} xref: Orphanet:295197 {source="OMIM:608180", source="MONDO:equivalentTo"} xref: Orphanet:93403 {source="MONDO:subClassOf", source="OMIM:608180"} xref: UMLS:C1842422 {source="Orphanet:295197", source="OMIM:608180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -237125,9 +237043,9 @@ synonym: "immunodeficiency with hyper-IgM type 4" RELATED [DOID:0060760] synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical, OMIM:608184] xref: DOID:0060760 {source="MONDO:equivalentTo"} xref: GARD:0010580 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.5 {source="DOID:0060760", source="ORDO:101091/attributed", source="ORDO:101091/ntbt", source="Orphanet:101091"} +xref: ICD10CM:D80.5 {source="DOID:0060760", source="Orphanet:101091", source="Orphanet:101091/attributed", source="Orphanet:101091/ntbt"} xref: MESH:C564277 {source="MONDO:equivalentTo"} -xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="ORDO:101091/e", source="Orphanet:101091"} +xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="Orphanet:101091", source="Orphanet:101091/e"} xref: Orphanet:101091 {source="DOID:0060760", source="MONDO:equivalentTo", source="OMIM:608184"} xref: Orphanet:183666 {source="MONDO:subClassOf", source="DOID:0060760", source="OMIM:608184"} xref: UMLS:C1842413 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608184", source="Orphanet:101091"} @@ -237144,9 +237062,9 @@ synonym: "fibrocalculous pancreatic diabetes, susceptibility to" EXACT [OMIM:608 synonym: "TCP" EXACT ABBREVIATION [OMIM:608189, Orphanet:103918] synonym: "tropical calcific chronic pancreatitis" EXACT [Orphanet:103918] synonym: "tropical calcific pancreatitis" RELATED [OMIM:608189] -xref: ICD10CM:K86.1 {source="ORDO:103918/ntbt", source="Orphanet:103918"} +xref: ICD10CM:K86.1 {source="Orphanet:103918/ntbt", source="Orphanet:103918"} xref: MESH:C564276 {source="MONDO:equivalentTo"} -xref: OMIM:608189 {source="MONDO:equivalentTo", source="ORDO:103918/e", source="Orphanet:103918"} +xref: OMIM:608189 {source="Orphanet:103918/e", source="MONDO:equivalentTo", source="Orphanet:103918"} xref: Orphanet:103918 {source="MONDO:equivalentTo", source="OMIM:608189"} xref: SCTID:724540009 {source="MONDO:equivalentTo"} xref: UMLS:C1842402 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608189", source="Orphanet:103918"} @@ -237184,9 +237102,9 @@ def: "A primary immunodeficiency characterized by neutrophilia with severe neutr subset: ordo_disease {source="Orphanet:183707"} synonym: "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" EXACT [OMIM:608203, OMIM:genemap2] synonym: "neutrophil immunodeficiency syndrome" EXACT [OMIM:608203] -xref: ICD10CM:D71 {source="Orphanet:183707", source="ORDO:183707/attributed", source="ORDO:183707/ntbt"} +xref: ICD10CM:D71 {source="Orphanet:183707/attributed", source="Orphanet:183707/ntbt", source="Orphanet:183707"} xref: MESH:C564275 {source="MONDO:equivalentTo"} -xref: OMIM:608203 {source="ORDO:183707/e", source="Orphanet:183707", source="MONDO:equivalentTo"} +xref: OMIM:608203 {source="Orphanet:183707", source="MONDO:equivalentTo", source="Orphanet:183707/e"} xref: Orphanet:183707 {source="MONDO:equivalentTo", source="OMIM:608203"} xref: SCTID:723443003 {source="MONDO:equivalentTo"} xref: UMLS:C1842398 {source="NCBI:mim2gene_medline", source="Orphanet:183707", source="MONDO:equivalentTo", source="OMIM:608203"} @@ -237210,23 +237128,23 @@ xref: DOID:9065 {source="MONDO:equivalentTo", source="EFO:0005044"} xref: EFO:0005044 {source="MONDO:equivalentTo"} xref: GARD:0006881 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:B55 {source="MONDO:equivalentTo", source="DOID:9065"} -xref: ICD10CM:B55.0 {source="MONDO:superClassOf", source="ORDO:507/btnt", source="Orphanet:507"} -xref: ICD10CM:B55.1 {source="MONDO:superClassOf", source="ORDO:507/btnt", source="Orphanet:507"} -xref: ICD10CM:B55.2 {source="MONDO:superClassOf", source="ORDO:507/btnt", source="Orphanet:507"} -xref: ICD10CM:B55.9 {source="ORDO:507/btnt", source="DOID:9065", source="Orphanet:507"} +xref: ICD10CM:B55.0 {source="MONDO:superClassOf", source="Orphanet:507", source="Orphanet:507/btnt"} +xref: ICD10CM:B55.1 {source="MONDO:superClassOf", source="Orphanet:507", source="Orphanet:507/btnt"} +xref: ICD10CM:B55.2 {source="MONDO:superClassOf", source="Orphanet:507", source="Orphanet:507/btnt"} +xref: ICD10CM:B55.9 {source="DOID:9065", source="Orphanet:507", source="Orphanet:507/btnt"} xref: ICD9:085 {source="DOID:9065", source="EFO:0005044"} xref: ICD9:085.9 {source="MONDO:equivalentTo", source="DOID:9065", source="i2s"} -xref: MedDRA:10024198 {source="ORDO:507/e", source="Orphanet:507"} -xref: MESH:D007896 {source="ORDO:507/e", source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="EFO:0005044"} +xref: MedDRA:10024198 {source="Orphanet:507", source="Orphanet:507/e"} +xref: MESH:D007896 {source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="EFO:0005044", source="Orphanet:507/e"} xref: NCIT:C34767 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"} -xref: OMIM:608207 {source="ORDO:507/e", source="MONDO:superClassOf"} +xref: OMIM:608207 {source="MONDO:superClassOf", source="Orphanet:507/e"} xref: Orphanet:507 {source="OMIM:608207", source="MONDO:equivalentTo"} xref: SCTID:154377009 {source="DOID:9065"} xref: SCTID:186811002 {source="DOID:9065"} xref: SCTID:187511000 {source="DOID:9065"} xref: SCTID:266206004 {source="DOID:9065"} xref: SCTID:80612004 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"} -xref: UMLS:C0023281 {source="ORDO:507/e", source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="NCIT:C34767"} +xref: UMLS:C0023281 {source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="NCIT:C34767", source="Orphanet:507/e"} is_a: MONDO:0002428 {source="DOID:9065", source="MESH:D007896/inferred"} ! protozoa infectious disease is_a: MONDO:0005135 {source="DOID:9065/inferred", source="EFO:0005044", source="MESH:D007896/inferred", source="MONDO:Redundant", source="NCIT:C34767", source="Orphanet:507", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -237253,8 +237171,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 38" NARROW [DOID:0110496] synonym: "autosomal recessive nonsyndromic deafness 38" NARROW [OMIM:608219] synonym: "autosomal recessive nonsyndromic deafness type 38" NARROW [DOID:0110496, MONDORULE:2] -synonym: "deafness, autosomal recessive 38" NARROW [MONDO:Lexical, OMIM:608219] -synonym: "deafness, autosomal recessive 38" NARROW [OMIM:608219, OMIM:genemap2] +synonym: "deafness, autosomal recessive 38" NARROW [MONDO:Lexical, OMIM:608219, OMIM:genemap2] synonym: "DFNB38" NARROW ABBREVIATION [DOID:0110496, MONDO:Lexical, OMIM:608219] xref: DOID:0110496 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110496"} @@ -237281,12 +237198,12 @@ synonym: "SPG25" EXACT ABBREVIATION [DOID:0110776, MONDO:Lexical, OMIM:608220, O synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582] xref: DOID:0110776 {source="MONDO:equivalentTo"} xref: GARD:0009582 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="DOID:0110776", source="MONDO:subClassOf", source="Orphanet:101005", source="ORDO:101005/attributed", source="ORDO:101005/ntbt"} -xref: MESH:C536861 {source="Orphanet:101005", source="ORDO:101005/e", source="MONDO:equivalentTo"} -xref: OMIM:608220 {source="DOID:0110776", source="Orphanet:101005", source="ORDO:101005/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="DOID:0110776", source="MONDO:subClassOf", source="Orphanet:101005/attributed", source="Orphanet:101005/ntbt", source="Orphanet:101005"} +xref: MESH:C536861 {source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"} +xref: OMIM:608220 {source="DOID:0110776", source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"} xref: Orphanet:101005 {source="DOID:0110776", source="MONDO:equivalentTo", source="OMIM:608220"} xref: SCTID:732933009 {source="MONDO:equivalentTo"} -xref: UMLS:C2936860 {source="Orphanet:101005", source="NCBI:mim2gene_medline", source="ORDO:101005/e", source="MONDO:equivalentTo", source="OMIM:608220"} +xref: UMLS:C2936860 {source="Orphanet:101005", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608220", source="Orphanet:101005/e"} xref: UMLS:C4518003 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101005"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110776", source="MESH:C536861", source="MONDO:Redundant", source="OMIM:608220", source="Orphanet:101005/inferred"} ! hereditary spastic paraplegia @@ -237310,8 +237227,7 @@ synonym: "autosomal dominant deafness 41" NARROW [DOID:0110567] synonym: "autosomal dominant nonsyndromic deafness 41" NARROW [OMIM:608224] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 41" NARROW [DOID:0110567, MONDORULE:2] -synonym: "deafness, autosomal dominant 41" NARROW [MONDO:Lexical, OMIM:608224] -synonym: "deafness, autosomal dominant 41" NARROW [OMIM:608224, OMIM:genemap2] +synonym: "deafness, autosomal dominant 41" NARROW [MONDO:Lexical, OMIM:608224, OMIM:genemap2] synonym: "deafness, autosomal dominant type 41" NARROW [MONDORULE:2, OMIM:608224] synonym: "DFNA41" NARROW ABBREVIATION [DOID:0110567, MONDO:Lexical, OMIM:608224] synonym: "P2RX2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -237335,7 +237251,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:314993"} synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability" RELATED [OMIM:608227] synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED DEPRECATED [OMIM:608227] xref: MESH:C564271 {source="MONDO:equivalentTo"} -xref: OMIM:608227 {source="MONDO:equivalentTo", source="Orphanet:314993", source="ORDO:314993/e"} +xref: OMIM:608227 {source="Orphanet:314993/e", source="MONDO:equivalentTo", source="Orphanet:314993"} xref: Orphanet:314993 {source="OMIM:608227", source="MONDO:equivalentTo"} xref: UMLS:C1842363 {source="OMIM:608227", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020225 {source="Orphanet:314993"} ! syndromic cataract @@ -237370,18 +237286,18 @@ synonym: "myeloid leukemia, chronic" EXACT [DOID:8552, MONDO:patterns/chronic, M xref: DOID:8552 {source="MONDO:equivalentTo", source="EFO:0000339"} xref: EFO:0000339 {source="MONDO:equivalentTo", source="DOID:8552"} xref: GARD:0006105 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C92.1 {source="Orphanet:521", source="ORDO:521/e"} +xref: ICD10CM:C92.1 {source="Orphanet:521", source="Orphanet:521/e"} xref: ICD9:205.1 {source="DOID:8552", source="EFO:0000339"} xref: ICDO:9863/3 {source="NCIT:C3174"} xref: ICDO:9875/3 {source="NCIT:C3174"} xref: KEGG:05220 {source="MONDO:relatedTo", source="DOID:8552"} -xref: MedDRA:10009013 {source="Orphanet:521", source="ORDO:521/e"} +xref: MedDRA:10009013 {source="Orphanet:521", source="Orphanet:521/e"} xref: MESH:D015464 {source="DOID:8552", source="EFO:0000339"} xref: MESH:D015466 {source="EFO:0000339"} xref: NCIT:C3172 {source="ONCOTREE:CML"} xref: NCIT:C3174 {source="MONDO:equivalentTo", source="DOID:8552"} xref: NCIT:C3177 {source="EFO:0000339", source="MONDO:directSiblingOf"} -xref: OMIM:608232 {source="Orphanet:521", source="MONDO:equivalentTo", source="DOID:8552", source="ORDO:521/e", source="EFO:0000339"} +xref: OMIM:608232 {source="Orphanet:521", source="MONDO:equivalentTo", source="Orphanet:521/e", source="DOID:8552", source="EFO:0000339"} xref: ONCOTREE:CML {source="MONDO:equivalentTo"} xref: Orphanet:521 {source="MONDO:equivalentTo", source="OMIM:608232"} xref: SCTID:154592009 {source="DOID:8552"} @@ -237390,7 +237306,7 @@ xref: SCTID:63364005 {source="DOID:8552", source="EFO:0000339"} xref: SCTID:92817004 {source="EFO:0000339"} xref: SCTID:92818009 {source="DOID:8552", source="EFO:0000339"} xref: UMLS:C0023470 {source="ONCOTREE:CML"} -xref: UMLS:C0023473 {source="Orphanet:521", source="NCIT:C3174", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608232", source="DOID:8552", source="ORDO:521/e"} +xref: UMLS:C0023473 {source="Orphanet:521", source="NCIT:C3174", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:521/e", source="OMIM:608232", source="DOID:8552"} xref: UMLS:C1292772 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:608232"} is_a: MONDO:0004643 {source="DOID:8552", source="MONDO:Entailed", source="NCIT:C3174"} ! myeloid leukemia is_a: MONDO:0020076 {source="EFO:0000339", source="MONDO:Redundant", source="NCIT:C3174", source="ONCOTREE:CML", source="Orphanet:521", source="indirect"} ! myeloproliferative neoplasm @@ -237415,10 +237331,10 @@ synonym: "HPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608233, Orphanet:183678] synonym: "Platelet defects and oculocutaneous albinism" RELATED [GARD:0009435] xref: DOID:0060540 {source="MONDO:equivalentTo"} xref: GARD:0009435 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:183678", source="ORDO:183678/attributed", source="ORDO:183678/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:183678/attributed", source="Orphanet:183678/ntbt", source="Orphanet:183678"} xref: MESH:C537709 {source="MONDO:equivalentTo"} xref: NCIT:C150368 {source="MONDO:equivalentTo"} -xref: OMIM:608233 {source="DOID:0060540", source="MONDO:equivalentTo", source="Orphanet:183678", source="ORDO:183678/e"} +xref: OMIM:608233 {source="Orphanet:183678/e", source="DOID:0060540", source="MONDO:equivalentTo", source="Orphanet:183678"} xref: Orphanet:183678 {source="MONDO:equivalentTo", source="OMIM:608233"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:608233"} xref: UMLS:C1842362 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608233", source="Orphanet:183678"} @@ -237440,9 +237356,9 @@ synonym: "autosomal dominant slowed nerve conduction velocity" EXACT CLINGEN_PRE synonym: "slowed nerve conduction velocity, AD" EXACT [OMIM:608236, OMIM:genemap2] synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608236] synonym: "SNCV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608236] -xref: ICD10CM:G60.0 {source="Orphanet:140481", source="ORDO:140481/attributed", source="ORDO:140481/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:140481/attributed", source="Orphanet:140481/ntbt", source="Orphanet:140481"} xref: MESH:C564269 {source="MONDO:equivalentTo"} -xref: OMIM:608236 {source="ORDO:140481/e", source="Orphanet:140481", source="MONDO:equivalentTo"} +xref: OMIM:608236 {source="Orphanet:140481", source="MONDO:equivalentTo", source="Orphanet:140481/e"} xref: Orphanet:140481 {source="MONDO:equivalentTo", source="OMIM:608236"} xref: SCTID:764854006 {source="MONDO:equivalentTo"} xref: UMLS:C1842357 {source="Orphanet:140481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608236"} @@ -237499,8 +237415,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 40" NARROW [DOID:0110499] synonym: "autosomal recessive nonsyndromic deafness 40" NARROW [OMIM:608264] synonym: "autosomal recessive nonsyndromic deafness type 40" NARROW [DOID:0110499, MONDORULE:2] -synonym: "deafness, autosomal recessive 40" NARROW [OMIM:608264, OMIM:genemap2] -synonym: "deafness, autosomal recessive 40" NARROW [MONDO:Lexical, OMIM:608264] +synonym: "deafness, autosomal recessive 40" NARROW [MONDO:Lexical, OMIM:608264, OMIM:genemap2] synonym: "DFNB40" NARROW ABBREVIATION [DOID:0110499, MONDO:Lexical, OMIM:608264] xref: DOID:0110499 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110499"} @@ -237521,8 +237436,7 @@ synonym: "autosomal recessive deafness 39" NARROW [DOID:0110497] synonym: "autosomal recessive nonsyndromic deafness 39" NARROW CLINGEN_PREFERRED [OMIM:608265] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in HGF" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 39" NARROW [DOID:0110497, MONDORULE:2] -synonym: "deafness, autosomal recessive 39" NARROW [MONDO:Lexical, OMIM:608265] -synonym: "deafness, autosomal recessive 39" NARROW [OMIM:608265, OMIM:genemap2] +synonym: "deafness, autosomal recessive 39" NARROW [MONDO:Lexical, OMIM:608265, OMIM:genemap2] synonym: "deafness, autosomal recessive type 39" NARROW [MONDORULE:2, OMIM:608265] synonym: "DFNB39" NARROW ABBREVIATION [DOID:0110497, MONDO:Lexical, OMIM:608265] synonym: "HGF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -237572,13 +237486,13 @@ synonym: "PRTC" RELATED ABBREVIATION [OMIM:608266] xref: DOID:1540 {source="MONDO:equivalentTo"} xref: EFO:1000456 {source="MONDO:equivalentTo"} xref: GARD:0007329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C75.0 {source="DOID:1540", source="ORDO:143/ntbt", source="Orphanet:143"} +xref: ICD10CM:C75.0 {source="DOID:1540", source="Orphanet:143/ntbt", source="Orphanet:143"} xref: ICD9:194.1 {source="MONDO:subClassOf", source="DOID:1540"} xref: MESH:D010282 {source="DOID:1540"} xref: NCIT:C3313 {source="MONDO:subClassOf", source="DOID:1540"} xref: NCIT:C4906 {source="DesignPattern", source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456"} xref: NCIT:C9322 {source="MONDO:subClassOf", source="DOID:1540"} -xref: OMIM:608266 {source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456", source="ORDO:143/e", source="Orphanet:143"} +xref: OMIM:608266 {source="DOID:1540", source="Orphanet:143/e", source="MONDO:equivalentTo", source="EFO:1000456", source="Orphanet:143"} xref: ONCOTREE:PTHC {source="MONDO:equivalentTo"} xref: Orphanet:143 {source="MONDO:equivalentTo", source="OMIM:608266"} xref: SCTID:127020005 {source="MONDO:subClassOf", source="DOID:1540"} @@ -237638,7 +237552,7 @@ synonym: "ectodermal dysplasia-acanthosis nigricans syndrome" EXACT [Orphanet:14 synonym: "Lelis syndrome" EXACT [OMIM:608290] xref: GARD:0010367 {source="MONDO:equivalentTo"} xref: MESH:C564261 {source="MONDO:equivalentTo"} -xref: OMIM:608290 {source="Orphanet:140936", source="ORDO:140936/e", source="MONDO:equivalentTo"} +xref: OMIM:608290 {source="Orphanet:140936", source="MONDO:equivalentTo", source="Orphanet:140936/e"} xref: Orphanet:140936 {source="OMIM:608290", source="MONDO:equivalentTo"} xref: SCTID:719429003 {source="MONDO:equivalentTo"} xref: UMLS:C1842307 {source="Orphanet:140936", source="OMIM:608290", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -237711,9 +237625,9 @@ synonym: "YARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:p synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439] xref: DOID:0110199 {source="MONDO:equivalentTo"} xref: GARD:0012439 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:100045", source="ORDO:100045/attributed", source="ORDO:100045/ntbt", source="DOID:0110199"} +xref: ICD10CM:G60.0 {source="Orphanet:100045/attributed", source="Orphanet:100045/ntbt", source="Orphanet:100045", source="DOID:0110199"} xref: MESH:C564257 {source="MONDO:equivalentTo"} -xref: OMIM:608323 {source="ORDO:100045/e", source="Orphanet:100045", source="MONDO:equivalentTo", source="DOID:0110199"} +xref: OMIM:608323 {source="Orphanet:100045", source="MONDO:equivalentTo", source="Orphanet:100045/e", source="DOID:0110199"} xref: Orphanet:100045 {source="MONDO:equivalentTo", source="OMIM:608323", source="DOID:0110199"} xref: SCTID:765746008 {source="MONDO:equivalentTo"} xref: UMLS:C1842237 {source="Orphanet:100045", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608323"} @@ -237740,14 +237654,14 @@ synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1, OMIM:608328] synonym: "Weill-Marchesani syndrome, autosomal dominant" EXACT [OMIM:608328] synonym: "WMS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608328] xref: GARD:0002452 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2084/attributed", source="ORDO:2084/ntbt", source="Orphanet:2084"} -xref: OMIM:608328 {source="MONDO:equivalentTo", source="ORDO:2084/e", source="Orphanet:2084"} +xref: ICD10CM:Q87.1 {source="Orphanet:2084/attributed", source="Orphanet:2084/ntbt", source="Orphanet:2084"} +xref: OMIM:608328 {source="Orphanet:2084/e", source="MONDO:equivalentTo", source="Orphanet:2084"} xref: Orphanet:2084 {source="OMIM:608328", source="MONDO:equivalentTo"} xref: Orphanet:3449 {source="MONDO:subClassOf", source="OMIM:608328"} xref: SCTID:722450007 {source="MONDO:equivalentTo"} xref: UMLS:C0265313 {source="MONDO:subClassOf", source="OMIM:608328"} xref: UMLS:C1869115 {source="OMIM:608328", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2084"} -xref: UMLS:C2931588 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2084/e", source="Orphanet:2084"} +xref: UMLS:C2931588 {source="Orphanet:2084/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2084"} is_a: MONDO:0018096 {source="DC-OMIM:608328", source="OMIM:608328"} ! Weill-Marchesani syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3603 {source="mim2gene_medgen"} ! FBN1 property_value: confidence "6.142857142857145" xsd:double @@ -237772,9 +237686,9 @@ synonym: "RI-CMTA" EXACT [DOID:0110201] synonym: "Ri-Cmta" RELATED [OMIM:608340] xref: DOID:0110201 {source="MONDO:equivalentTo"} xref: GARD:0012453 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:217055/attributed", source="ORDO:217055/ntbt", source="Orphanet:217055"} +xref: ICD10CM:G60.0 {source="Orphanet:217055/attributed", source="Orphanet:217055/ntbt", source="Orphanet:217055"} xref: MESH:C564256 {source="MONDO:equivalentTo"} -xref: OMIM:608340 {source="MONDO:equivalentTo", source="ORDO:217055/e", source="Orphanet:217055", source="DOID:0110201"} +xref: OMIM:608340 {source="Orphanet:217055/e", source="MONDO:equivalentTo", source="Orphanet:217055", source="DOID:0110201"} xref: Orphanet:217055 {source="MONDO:equivalentTo", source="OMIM:608340", source="DOID:0110201"} xref: UMLS:C1842197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608340", source="Orphanet:217055"} is_a: MONDO:0015626 {source="DOID:0110201/inferred", source="MESH:C564256", source="MONDO:Redundant", source="OMIM:608340", source="Orphanet:217055/inferred"} ! Charcot-Marie-Tooth disease @@ -237809,10 +237723,10 @@ synonym: "CM-AVM" EXACT [Orphanet:137667] synonym: "CM-AVM syndrome" RELATED [GARD:0011904] synonym: "CMAVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608354] xref: GARD:0011904 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q27.3 {source="Orphanet:137667", source="ORDO:137667/attributed", source="ORDO:137667/ntbt"} +xref: ICD10CM:Q27.3 {source="Orphanet:137667/attributed", source="Orphanet:137667/ntbt", source="Orphanet:137667"} xref: ICD9:747.69 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564254 {source="MONDO:equivalentTo"} -xref: OMIM:608354 {source="ORDO:137667/e", source="Orphanet:137667", source="MONDO:superClassOf"} +xref: OMIM:608354 {source="Orphanet:137667", source="MONDO:superClassOf", source="Orphanet:137667/e"} xref: OMIMPS:608354 {source="MONDO:equivalentTo"} xref: Orphanet:137667 {source="MONDO:equivalentTo", source="OMIM:608354"} xref: SCTID:703533007 {source="MONDO:equivalentTo"} @@ -237834,9 +237748,9 @@ synonym: "Parkes Weber syndrome" EXACT [OMIM:608355] synonym: "PKWS" RELATED ABBREVIATION [OMIM:608355] synonym: "Pkws" RELATED [OMIM:608355] xref: GARD:0009787 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:90307/attributed", source="ORDO:90307/ntbt", source="Orphanet:90307"} +xref: ICD10CM:Q87.2 {source="Orphanet:90307/attributed", source="Orphanet:90307/ntbt", source="Orphanet:90307"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:608355 {source="MONDO:equivalentTo", source="ORDO:90307/e", source="Orphanet:90307"} +xref: OMIM:608355 {source="Orphanet:90307/e", source="MONDO:equivalentTo", source="Orphanet:90307"} xref: Orphanet:2346 {source="MONDO:subClassOf", source="OMIM:608355"} xref: Orphanet:90307 {source="MONDO:equivalentTo", source="OMIM:608355"} xref: SCTID:234143003 {source="MONDO:equivalentTo"} @@ -237861,7 +237775,7 @@ xref: OMIM:608358 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="MONDO:subClassOf", source="OMIM:608358"} xref: SCTID:699267007 {source="MONDO:equivalentTo"} xref: UMLS:C1842160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608358"} -is_a: MONDO:0018889 {source="ORDO:53698/btnt"} ! hyaline body myopathy +is_a: MONDO:0018889 {source="Orphanet:53698/btnt"} ! hyaline body myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7577 {source="mim2gene_medgen"} ! MYH7 property_value: confidence "29.33333333333344" xsd:double @@ -237873,9 +237787,9 @@ subset: ordo_disease {source="Orphanet:93283"} synonym: "SEDK" RELATED ABBREVIATION [OMIM:608361] synonym: "Sedk" RELATED [OMIM:608361] synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361] -xref: ICD10CM:Q77.7 {source="ORDO:93283/attributed", source="ORDO:93283/ntbt", source="Orphanet:93283"} +xref: ICD10CM:Q77.7 {source="Orphanet:93283/attributed", source="Orphanet:93283/ntbt", source="Orphanet:93283"} xref: MESH:C564252 {source="MONDO:equivalentTo"} -xref: OMIM:608361 {source="MONDO:equivalentTo", source="ORDO:93283/e", source="Orphanet:93283"} +xref: OMIM:608361 {source="Orphanet:93283/e", source="MONDO:equivalentTo", source="Orphanet:93283"} xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"} xref: SCTID:719203001 {source="MONDO:equivalentTo"} xref: UMLS:C1842149 {source="NCBI:mim2gene_medline", source="OMIM:608361", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93283"} @@ -237905,7 +237819,7 @@ xref: DOID:0060436 {source="MONDO:equivalentTo"} xref: GARD:0010557 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567224 {source="MONDO:equivalentTo"} -xref: OMIM:608363 {source="MONDO:equivalentTo", source="GARD:0010557", source="DOID:0060436", source="Orphanet:1727", source="ORDO:1727/e"} +xref: OMIM:608363 {source="Orphanet:1727/e", source="MONDO:equivalentTo", source="GARD:0010557", source="DOID:0060436", source="Orphanet:1727"} xref: Orphanet:1727 {source="MONDO:equivalentTo", source="GARD:0010557", source="OMIM:608363", source="DOID:0060436"} xref: SCTID:699311001 {source="MONDO:equivalentTo"} xref: UMLS:C2675369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0010557", source="OMIM:608363", source="Orphanet:1727"} @@ -237952,8 +237866,7 @@ def: "An autosomal dominant nonsyndromic deafness that is characterized by moder synonym: "autosomal dominant deafness 49" NARROW [DOID:0110572] synonym: "autosomal dominant nonsyndromic deafness 49" NARROW [OMIM:608372] synonym: "autosomal dominant nonsyndromic deafness type 49" NARROW [DOID:0110572, MONDORULE:2] -synonym: "deafness, autosomal dominant 49" NARROW [MONDO:Lexical, OMIM:608372] -synonym: "deafness, autosomal dominant 49" NARROW [OMIM:608372, OMIM:genemap2] +synonym: "deafness, autosomal dominant 49" NARROW [MONDO:Lexical, OMIM:608372, OMIM:genemap2] synonym: "DFNA49" NARROW ABBREVIATION [DOID:0110572, MONDO:Lexical, OMIM:608372] xref: DOID:0110572 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110572"} @@ -238064,8 +237977,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 43" NARROW [DOID:0110568] synonym: "autosomal dominant nonsyndromic deafness 43" NARROW [OMIM:608394] synonym: "autosomal dominant nonsyndromic deafness type 43" NARROW [DOID:0110568, MONDORULE:2] -synonym: "deafness, autosomal dominant 43" NARROW [MONDO:Lexical, OMIM:608394] -synonym: "deafness, autosomal dominant 43" NARROW [OMIM:608394, OMIM:genemap2] +synonym: "deafness, autosomal dominant 43" NARROW [MONDO:Lexical, OMIM:608394, OMIM:genemap2] synonym: "DFNA43" NARROW ABBREVIATION [DOID:0110568, MONDO:Lexical, OMIM:608394] xref: DOID:0110568 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110568"} @@ -238107,9 +238019,9 @@ def: "Braddock syndrome is a rare malformation syndrome with multiple congenital subset: ordo_malformation_syndrome {source="Orphanet:52047"} synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [OMIM:608406] synonym: "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" EXACT [Orphanet:52047] -xref: ICD10CM:Q87.8 {source="Orphanet:52047", source="ORDO:52047/attributed", source="ORDO:52047/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:52047/attributed", source="Orphanet:52047/ntbt", source="Orphanet:52047"} xref: MESH:C564244 {source="MONDO:equivalentTo"} -xref: OMIM:608406 {source="Orphanet:52047", source="MONDO:equivalentTo", source="ORDO:52047/e"} +xref: OMIM:608406 {source="Orphanet:52047", source="MONDO:equivalentTo", source="Orphanet:52047/e"} xref: Orphanet:52047 {source="OMIM:608406", source="MONDO:equivalentTo"} xref: SCTID:720575002 {source="MONDO:equivalentTo"} xref: UMLS:C1842082 {source="OMIM:608406", source="Orphanet:52047", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -238132,10 +238044,10 @@ synonym: "PERRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608415, Orphanet:75374] synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIM:608415, Orphanet:75374] xref: DOID:0050335 {source="MONDO:equivalentTo"} xref: GARD:0012299 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.8 {source="ORDO:75374/attributed", source="ORDO:75374/ntbt", source="Orphanet:75374"} +xref: ICD10CM:H53.8 {source="Orphanet:75374/attributed", source="Orphanet:75374/ntbt", source="Orphanet:75374"} xref: ICD9:368.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564243 {source="DOID:0050335", source="MONDO:equivalentTo"} -xref: OMIM:608415 {source="DOID:0050335", source="MONDO:equivalentTo", source="ORDO:75374/e", source="Orphanet:75374"} +xref: OMIM:608415 {source="DOID:0050335", source="Orphanet:75374/e", source="MONDO:equivalentTo", source="Orphanet:75374"} xref: Orphanet:75374 {source="OMIM:608415", source="DOID:0050335", source="MONDO:equivalentTo"} xref: SCTID:711163009 {source="DOID:0050335", source="MONDO:equivalentTo"} xref: UMLS:C1842073 {source="OMIM:608415", source="DOID:0050335", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -238156,9 +238068,9 @@ synonym: "muscular dystrophy, limb-girdle, autosomal dominant 2" EXACT [OMIM:608 synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical, OMIM:608423] xref: DOID:0110304 {source="MONDO:equivalentTo"} xref: GARD:0012530 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:55595/inclusion", source="ORDO:55595/ntbt", source="DOID:0110304", source="Orphanet:55595"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110304", source="Orphanet:55595/ntbt", source="Orphanet:55595/inclusion", source="Orphanet:55595"} xref: MESH:C564242 {source="MONDO:equivalentTo"} -xref: OMIM:608423 {source="DOID:0110304", source="MONDO:equivalentTo", source="ORDO:55595/e", source="Orphanet:55595"} +xref: OMIM:608423 {source="Orphanet:55595/e", source="DOID:0110304", source="MONDO:equivalentTo", source="Orphanet:55595"} xref: Orphanet:55595 {source="DOID:0110304", source="MONDO:equivalentTo", source="OMIM:608423"} xref: SCTID:719989007 {source="MONDO:equivalentTo"} xref: UMLS:C1842062 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:55595", source="OMIM:608423"} @@ -238173,9 +238085,9 @@ def: "Craniosynostosis-intracranial calcification is a form of syndromic cranios subset: ordo_malformation_syndrome {source="Orphanet:52054"} synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432] synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054] -xref: ICD10CM:Q87.0 {source="ORDO:52054/attributed", source="ORDO:52054/ntbt", source="Orphanet:52054"} +xref: ICD10CM:Q87.0 {source="Orphanet:52054/attributed", source="Orphanet:52054/ntbt", source="Orphanet:52054"} xref: MESH:C564241 {source="MONDO:equivalentTo"} -xref: OMIM:608432 {source="MONDO:equivalentTo", source="ORDO:52054/e", source="Orphanet:52054"} +xref: OMIM:608432 {source="Orphanet:52054/e", source="MONDO:equivalentTo", source="Orphanet:52054"} xref: Orphanet:52054 {source="MONDO:equivalentTo", source="OMIM:608432"} xref: SCTID:720816004 {source="MONDO:equivalentTo"} xref: UMLS:C1842058 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608432"} @@ -238284,10 +238196,10 @@ synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [Orphanet:2477 synonym: "MUTYH-related attenuated FAP" EXACT [Orphanet:247798] synonym: "MYH-associated polyposis" RELATED [GARD:0010805] xref: GARD:0010805 {source="MONDO:equivalentTo"} -xref: ICD10CM:D12.6 {source="Orphanet:247798", source="ORDO:247798/attributed", source="ORDO:247798/ntbt"} +xref: ICD10CM:D12.6 {source="Orphanet:247798", source="Orphanet:247798/attributed", source="Orphanet:247798/ntbt"} xref: MESH:C563924 {source="MONDO:equivalentTo"} xref: NCIT:C96520 {source="MONDO:equivalentTo"} -xref: OMIM:608456 {source="Orphanet:247798", source="ORDO:247798/e", source="MONDO:equivalentTo"} +xref: OMIM:608456 {source="Orphanet:247798", source="MONDO:equivalentTo", source="Orphanet:247798/e"} xref: Orphanet:220460 {source="MONDO:subClassOf", source="OMIM:608456"} xref: Orphanet:247798 {source="MONDO:equivalentTo", source="OMIM:608456"} xref: UMLS:C1837991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608456"} @@ -238338,13 +238250,13 @@ synonym: "Reis-Bücklers corneal dystrophy" RELATED [Orphanet:98961] synonym: "superficial granular corneal dystrophy" EXACT [Orphanet:98961] xref: DOID:0060453 {source="MONDO:equivalentTo"} xref: GARD:0009276 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H18.5 {source="Orphanet:98961", source="ORDO:98961/attributed", source="ORDO:98961/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98961", source="Orphanet:98961/attributed", source="Orphanet:98961/ntbt"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535476 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="ORDO:98961/e"} -xref: OMIM:608470 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="ORDO:98961/e"} +xref: MESH:C535476 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"} +xref: OMIM:608470 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"} xref: Orphanet:98961 {source="DOID:0060453", source="MONDO:equivalentTo", source="OMIM:608470"} xref: SCTID:231930000 {source="DOID:0060453", source="MONDO:equivalentTo"} -xref: UMLS:C0339278 {source="Orphanet:98961", source="DOID:0060453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608470", source="ORDO:98961/e"} +xref: UMLS:C0339278 {source="Orphanet:98961", source="DOID:0060453", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98961/e", source="OMIM:608470"} is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98961"} ! superficial corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI @@ -238367,7 +238279,7 @@ xref: Orphanet:98964 {source="MONDO:subClassOf", source="OMIM:608471"} xref: UMLS:C1837974 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608471"} is_a: MONDO:0004686 ! lattice corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI -relationship: excluded_subClassOf MONDO:0007380 {source="ORDO:98964/btnt"} ! lattice corneal dystrophy type I +relationship: excluded_subClassOf MONDO:0007380 {source="Orphanet:98964/btnt"} ! lattice corneal dystrophy type I property_value: confidence "10.74090909090909" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a xsd:anyURI {source="GARD:0010320"} @@ -238495,9 +238407,9 @@ synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical, synonym: "mannosyltransferase 1 deficiency" EXACT [Orphanet:79327] xref: DOID:0080563 {source="MONDO:equivalentTo"} xref: GARD:0009838 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79327", source="ORDO:79327/attributed", source="ORDO:79327/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:79327/attributed", source="Orphanet:79327/ntbt", source="Orphanet:79327"} xref: MESH:C535749 {source="MONDO:equivalentTo"} -xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source="ORDO:79327/e"} +xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source="Orphanet:79327/e"} xref: Orphanet:79327 {source="MONDO:equivalentTo", source="OMIM:608540"} xref: SCTID:720941007 {source="MONDO:equivalentTo"} xref: UMLS:C1837896 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -238545,9 +238457,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2370"} synonym: "Larsen-like syndrome" RELATED [OMIM:608545] synonym: "Larsen-like syndrome, isolated cases" EXACT [OMIM:608545, OMIM:genemap2] synonym: "Lrsl" RELATED [OMIM:608545] -xref: ICD10CM:Q74.8 {source="ORDO:2370/attributed", source="ORDO:2370/ntbt", source="Orphanet:2370"} +xref: ICD10CM:Q74.8 {source="Orphanet:2370/attributed", source="Orphanet:2370/ntbt", source="Orphanet:2370"} xref: MESH:C563914 {source="MONDO:equivalentTo"} -xref: OMIM:608545 {source="MONDO:equivalentTo", source="ORDO:2370/e", source="Orphanet:2370"} +xref: OMIM:608545 {source="Orphanet:2370/e", source="MONDO:equivalentTo", source="Orphanet:2370"} xref: Orphanet:2370 {source="MONDO:equivalentTo", source="OMIM:608545"} xref: UMLS:C1837884 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608545"} is_a: MONDO:0018230 {source="Orphanet:2370"} ! primary bone dysplasia @@ -238619,7 +238531,7 @@ xref: MESH:C563909 {source="MONDO:equivalentTo"} xref: OMIM:608562 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="MONDO:subClassOf", source="OMIM:608562"} xref: UMLS:C1837868 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608562"} -is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A +is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A property_value: confidence "0.7021276595744683" xsd:double [Term] @@ -238630,8 +238542,7 @@ synonym: "autosomal recessive deafness 35" NARROW [DOID:0110493] synonym: "autosomal recessive nonsyndromic deafness 35" NARROW CLINGEN_PREFERRED [OMIM:608565] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 35" NARROW [DOID:0110493, MONDORULE:2] -synonym: "deafness, autosomal recessive 35" NARROW [MONDO:Lexical, OMIM:608565] -synonym: "deafness, autosomal recessive 35" NARROW [OMIM:608565, OMIM:genemap2] +synonym: "deafness, autosomal recessive 35" NARROW [MONDO:Lexical, OMIM:608565, OMIM:genemap2] synonym: "deafness, autosomal recessive type 35" NARROW [MONDORULE:2, OMIM:608565] synonym: "DFNB35" NARROW ABBREVIATION [DOID:0110493, MONDO:Lexical, OMIM:608565] synonym: "ESRRB autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -238656,18 +238567,18 @@ synonym: "familial sinus node dysfunction" EXACT [Orphanet:166282] synonym: "hereditary sick sinus syndrome" EXACT [MONDO:patterns/hereditary] synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608567] synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608567] -xref: ICD10CM:I49.5 {source="MONDO:subClassOf", source="Orphanet:166282", source="ORDO:166282/attributed", source="ORDO:166282/ntbt"} -xref: MedDRA:10040639 {source="Orphanet:166282", source="ORDO:166282/e"} +xref: ICD10CM:I49.5 {source="MONDO:subClassOf", source="Orphanet:166282/attributed", source="Orphanet:166282/ntbt", source="Orphanet:166282"} +xref: MedDRA:10040639 {source="Orphanet:166282/e", source="Orphanet:166282"} xref: MESH:C563907 {source="MONDO:equivalentTo"} -xref: MESH:D012804 {source="MONDO:subClassOf", source="Orphanet:166282", source="ORDO:166282/e"} -xref: OMIM:163800 {source="MONDO:superClassOf", source="DOID:13884", source="Orphanet:166282", source="ORDO:166282/btnt"} -xref: OMIM:182190 {source="MONDO:superClassOf", source="Orphanet:166282", source="ORDO:166282/btnt"} -xref: OMIM:608567 {source="MONDO:superClassOf", source="DOID:13884", source="Orphanet:166282", source="ORDO:166282/e"} -xref: OMIM:614090 {source="MONDO:superClassOf", source="DOID:13884", source="Orphanet:166282", source="ORDO:166282/btnt"} +xref: MESH:D012804 {source="MONDO:subClassOf", source="Orphanet:166282/e", source="Orphanet:166282"} +xref: OMIM:163800 {source="MONDO:superClassOf", source="Orphanet:166282/btnt", source="DOID:13884", source="Orphanet:166282"} +xref: OMIM:182190 {source="MONDO:superClassOf", source="Orphanet:166282/btnt", source="Orphanet:166282"} +xref: OMIM:608567 {source="Orphanet:166282/e", source="MONDO:superClassOf", source="DOID:13884", source="Orphanet:166282"} +xref: OMIM:614090 {source="MONDO:superClassOf", source="Orphanet:166282/btnt", source="DOID:13884", source="Orphanet:166282"} xref: OMIMPS:608567 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="MONDO:equivalentTo", source="OMIM:608567"} xref: SCTID:233913007 {source="MONDO:equivalentTo"} -xref: UMLS:C0037052 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166282", source="ORDO:166282/e"} +xref: UMLS:C0037052 {source="Orphanet:166282/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166282"} is_a: MONDO:0001823 {source="DC-OMIM:608567", source="MESH:C563907", source="MONDO:Redundant", source="OMIM:608567", source="linkedlifedata"} ! sick sinus syndrome is_a: MONDO:0015110 {source="Orphanet:166282"} ! genetic cardiac rhythm disease intersection_of: MONDO:0001823 ! sick sinus syndrome @@ -238706,9 +238617,9 @@ def: "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformati subset: ordo_malformation_syndrome {source="Orphanet:52056"} synonym: "Morava-Mehes syndrome" EXACT [Orphanet:52056] synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [OMIM:608571] -xref: ICD10CM:Q73.8 {source="Orphanet:52056", source="ORDO:52056/attributed", source="ORDO:52056/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:52056", source="Orphanet:52056/attributed", source="Orphanet:52056/ntbt"} xref: MESH:C563905 {source="MONDO:equivalentTo"} -xref: OMIM:608571 {source="Orphanet:52056", source="MONDO:equivalentTo", source="ORDO:52056/e"} +xref: OMIM:608571 {source="Orphanet:52056", source="MONDO:equivalentTo", source="Orphanet:52056/e"} xref: Orphanet:52056 {source="MONDO:equivalentTo", source="OMIM:608571"} xref: SCTID:719843001 {source="MONDO:equivalentTo"} xref: UMLS:C1837830 {source="Orphanet:52056", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608571"} @@ -238727,14 +238638,14 @@ synonym: "Burn-McKeown syndrome" EXACT [MONDO:Lexical, OMIM:608572, Orphanet:120 synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041] synonym: "oculootofacial dysplasia" EXACT [OMIM:608572] xref: GARD:0010041 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1200", source="ORDO:1200/attributed", source="ORDO:1200/ntbt"} -xref: MESH:C537411 {source="Orphanet:1200", source="ORDO:1200/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1200", source="Orphanet:1200/attributed", source="Orphanet:1200/ntbt"} +xref: MESH:C537411 {source="Orphanet:1200", source="Orphanet:1200/e"} xref: MESH:C563682 {source="MONDO:equivalentTo"} -xref: OMIM:608572 {source="Orphanet:1200", source="ORDO:1200/e", source="MONDO:equivalentTo"} -xref: OMIM:616462 {source="Orphanet:1200", source="MONDO:superClassOf", source="ORDO:1200/btnt"} +xref: OMIM:608572 {source="Orphanet:1200", source="MONDO:equivalentTo", source="Orphanet:1200/e"} +xref: OMIM:616462 {source="Orphanet:1200", source="Orphanet:1200/btnt", source="MONDO:superClassOf"} xref: Orphanet:1200 {source="MONDO:equivalentTo", source="OMIM:608572"} xref: UMLS:C1835913 {source="MONDO:equivalentTo"} -xref: UMLS:C1837822 {source="Orphanet:1200", source="ORDO:1200/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608572"} +xref: UMLS:C1837822 {source="Orphanet:1200", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608572", source="Orphanet:1200/e"} is_a: MONDO:0015161 {source="Orphanet:1200", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015503 {source="Orphanet:1200"} ! nose and cavum anomaly is_a: MONDO:0018562 {source="Orphanet:1200", source="Orphanet:1200/inferred"} ! genetic otorhinolaryngological malformation @@ -238834,7 +238745,7 @@ xref: OMIM:608594 {source="MONDO:equivalentTo", source="DOID:0111135", source="G xref: Orphanet:528 {source="MONDO:subClassOf", source="OMIM:608594"} xref: UMLS:C1720862 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608594", source="GARD:0000084"} is_a: MONDO:0006536 {source="DC-OMIM:608594", source="DOID:0111135", source="MONDO:Redundant", source="OMIM:608594"} ! congenital generalized lipodystrophy -is_a: MONDO:0018883 {source="ORDO:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy +is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/325 ! AGPAT2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/325 {source="mim2gene_medgen"} ! AGPAT2 @@ -238853,8 +238764,8 @@ synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [OMIM:608600 synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical, OMIM:608600] xref: DOID:0070207 {source="MONDO:equivalentTo"} xref: GARD:0012598 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.1 {source="Orphanet:79084", source="ORDO:79084/attributed", source="ORDO:79084/ntbt"} -xref: OMIM:608600 {source="ORDO:79084/e", source="MONDO:equivalentTo", source="Orphanet:79084"} +xref: ICD10CM:E88.1 {source="Orphanet:79084", source="Orphanet:79084/attributed", source="Orphanet:79084/ntbt"} +xref: OMIM:608600 {source="MONDO:equivalentTo", source="Orphanet:79084", source="Orphanet:79084/e"} xref: Orphanet:79084 {source="MONDO:equivalentTo", source="OMIM:608600"} xref: SCTID:725035001 {source="MONDO:equivalentTo"} xref: UMLS:C1720859 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79084", source="OMIM:608600"} @@ -238869,7 +238780,7 @@ subset: ordo_disease {source="Orphanet:440706"} synonym: "ribose 5-phosphate isomerase deficiency" RELATED [OMIM:608611] xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563212 {source="MONDO:equivalentTo"} -xref: OMIM:608611 {source="MONDO:equivalentTo", source="Orphanet:440706", source="ORDO:440706/e"} +xref: OMIM:608611 {source="Orphanet:440706/e", source="MONDO:equivalentTo", source="Orphanet:440706"} xref: Orphanet:440706 {source="MONDO:equivalentTo"} xref: SCTID:124667004 {source="MONDO:equivalentTo"} xref: UMLS:C1291609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608611", source="Orphanet:440706"} @@ -238888,12 +238799,12 @@ synonym: "MADB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608612] synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy" RELATED [OMIM:608612] synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexical, OMIM:608612] xref: GARD:0009989 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="Orphanet:90154", source="ORDO:90154/attributed", source="ORDO:90154/ntbt"} -xref: MESH:C535706 {source="ORDO:90154/e", source="Orphanet:90154", source="MONDO:equivalentTo"} -xref: OMIM:608612 {source="ORDO:90154/e", source="Orphanet:90154", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.5 {source="Orphanet:90154/attributed", source="Orphanet:90154/ntbt", source="Orphanet:90154"} +xref: MESH:C535706 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} +xref: OMIM:608612 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} xref: Orphanet:2457 {source="MONDO:subClassOf", source="OMIM:608612"} xref: Orphanet:90154 {source="OMIM:608612", source="MONDO:equivalentTo"} -xref: UMLS:C1837756 {source="OMIM:608612", source="ORDO:90154/e", source="Orphanet:90154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1837756 {source="OMIM:608612", source="Orphanet:90154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90154/e"} is_a: MONDO:0016584 {source="DC-OMIM:608612", source="OMIM:608612", source="Orphanet:90154"} ! mandibuloacral dysplasia is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12877 {source="mim2gene_medgen"} ! ZMPSTE24 @@ -238910,7 +238821,7 @@ synonym: "oligodontia-cancer predisposition syndrome" EXACT CLINGEN_PREFERRED [] synonym: "oligodontia-colorectal cancer syndrome" EXACT [MESH:C563898, MONDO:Lexical, OMIM:608615] synonym: "tooth agenesis-colorectal cancer syndrome" EXACT [OMIM:608615] xref: MESH:C563898 {source="MONDO:equivalentTo"} -xref: OMIM:608615 {source="Orphanet:300576", source="ORDO:300576/e", source="MONDO:equivalentTo"} +xref: OMIM:608615 {source="Orphanet:300576", source="MONDO:equivalentTo", source="Orphanet:300576/e"} xref: Orphanet:300576 {source="OMIM:608615", source="MONDO:equivalentTo"} xref: UMLS:C1837750 {source="OMIM:608615", source="Orphanet:300576", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:608615"} ! Mendelian disease @@ -239001,7 +238912,7 @@ xref: OMIM:608634 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="MONDO:subClassOf", source="OMIM:608634"} xref: UMLS:C2608087 {source="OMIM:608634", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000075 {source="DC-OMIM:608634", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor -is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2 +is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2 intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5246 ! HSPB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5246 {source="mim2gene_medgen"} ! HSPB1 @@ -239025,7 +238936,7 @@ synonym: "Duplication 15Q11-q13 syndrome" RELATED [OMIM:608636] synonym: "trisomy 15q11-q13" EXACT [Orphanet:238446] synonym: "trisomy 15q11q13" EXACT [Orphanet:238446] xref: NCIT:C126692 {source="MONDO:equivalentTo"} -xref: OMIM:608636 {source="Orphanet:238446", source="ORDO:238446/e", source="MONDO:equivalentTo"} +xref: OMIM:608636 {source="Orphanet:238446", source="MONDO:equivalentTo", source="Orphanet:238446/e"} xref: Orphanet:106 {source="OMIM:608636"} xref: Orphanet:238446 {source="OMIM:608636", source="MONDO:equivalentTo"} xref: SCTID:719427001 {source="MONDO:equivalentTo"} @@ -239065,8 +238976,7 @@ synonym: "autosomal dominant deafness 28" NARROW [DOID:0110557] synonym: "autosomal dominant nonsyndromic deafness 28" NARROW [OMIM:608641] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 28" NARROW [DOID:0110557, MONDORULE:2] -synonym: "deafness, autosomal dominant 28" NARROW [MONDO:Lexical, OMIM:608641] -synonym: "deafness, autosomal dominant 28" NARROW [OMIM:608641, OMIM:genemap2] +synonym: "deafness, autosomal dominant 28" NARROW [MONDO:Lexical, OMIM:608641, OMIM:genemap2] synonym: "deafness, autosomal dominant type 28" NARROW [MONDORULE:2, OMIM:608641] synonym: "DFNA28" NARROW ABBREVIATION [DOID:0110557, MONDO:Lexical, OMIM:608641] synonym: "GRHL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -239099,15 +239009,15 @@ synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643] xref: DOID:0090123 {source="MONDO:equivalentTo"} xref: GARD:0000770 {source="MONDO:equivalentTo"} xref: GARD:770 {source="DOID:0090123"} -xref: ICD10CM:G24.8 {source="ORDO:35708/attributed", source="ORDO:35708/ntbt", source="DOID:0090123", source="Orphanet:35708"} +xref: ICD10CM:G24.8 {source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/attributed", source="Orphanet:35708/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537437 {source="MONDO:equivalentTo"} xref: NCIT:C142085 {source="MONDO:equivalentTo"} -xref: OMIM:608643 {source="MONDO:equivalentTo", source="DOID:0090123", source="ORDO:35708/e", source="Orphanet:35708"} +xref: OMIM:608643 {source="MONDO:equivalentTo", source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/e"} xref: Orphanet:35708 {source="MONDO:equivalentTo", source="DOID:0090123", source="OMIM:608643"} xref: SCTID:237922009 {source="MONDO:equivalentTo"} xref: UMLS:C0342686 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35708"} -xref: UMLS:C1291564 {source="NCBI:mim2gene_medline", source="DOID:0090123", source="MONDO:notFoundInDiseaseSubset", source="ORDO:35708/e", source="Orphanet:35708", source="OMIM:608643"} +xref: UMLS:C1291564 {source="NCBI:mim2gene_medline", source="DOID:0090123", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35708", source="Orphanet:35708/e", source="OMIM:608643"} is_a: MONDO:0017759 {source="Orphanet:35708", source="linkedlifedata"} ! disorder of catecholamine synthesis is_a: MONDO:0019058 {source="Orphanet:35708"} ! neurometabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2719 {source="mim2gene_medgen"} ! DDC @@ -239144,8 +239054,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 31" NARROW [DOID:0110561] synonym: "autosomal dominant nonsyndromic deafness 31" NARROW [OMIM:608645] synonym: "autosomal dominant nonsyndromic deafness type 31" NARROW [DOID:0110561, MONDORULE:2] -synonym: "deafness, autosomal dominant 31" NARROW [MONDO:Lexical, OMIM:608645] -synonym: "deafness, autosomal dominant 31" NARROW [OMIM:608645, OMIM:genemap2] +synonym: "deafness, autosomal dominant 31" NARROW [MONDO:Lexical, OMIM:608645, OMIM:genemap2] synonym: "DFNA31" NARROW ABBREVIATION [DOID:0110561, MONDO:Lexical, OMIM:608645] xref: DOID:0110561 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110561"} @@ -239208,13 +239117,13 @@ synonym: "ichthyosis-prematurity syndrome" RELATED [Orphanet:88621] synonym: "idiopathic pneumonia syndrome" EXACT [NCIT:C62590] synonym: "IPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608649, Orphanet:88621] xref: GARD:0009886 {source="MONDO:equivalentTo"} -xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="ORDO:88621/e"} +xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} xref: NCIT:C62590 {source="MONDO:equivalentTo"} -xref: OMIM:608649 {source="Orphanet:88621", source="MONDO:equivalentTo", source="ORDO:88621/e"} +xref: OMIM:608649 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} xref: Orphanet:88621 {source="OMIM:608649", source="MONDO:equivalentTo"} xref: SCTID:12381000132107 {source="MONDO:equivalentTo"} xref: UMLS:C1504431 {source="MONDO:equivalentTo", source="NCIT:C62590"} -xref: UMLS:C1837610 {source="Orphanet:88621", source="NCBI:mim2gene_medline", source="OMIM:608649", source="MONDO:equivalentTo", source="ORDO:88621/e"} +xref: UMLS:C1837610 {source="Orphanet:88621", source="NCBI:mim2gene_medline", source="OMIM:608649", source="MONDO:equivalentTo", source="Orphanet:88621/e"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0043905 {source="NCIT:C62590", source="linkedlifedata"} ! pneumonitis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10998 {source="mim2gene_medgen"} ! SLC27A4 @@ -239228,8 +239137,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 47" NARROW [DOID:0110570] synonym: "autosomal dominant nonsyndromic deafness 47" NARROW [OMIM:608652] synonym: "autosomal dominant nonsyndromic deafness type 47" NARROW [DOID:0110570, MONDORULE:2] -synonym: "deafness, autosomal dominant 47" NARROW [OMIM:608652, OMIM:genemap2] -synonym: "deafness, autosomal dominant 47" NARROW [MONDO:Lexical, OMIM:608652] +synonym: "deafness, autosomal dominant 47" NARROW [MONDO:Lexical, OMIM:608652, OMIM:genemap2] synonym: "DFNA47" NARROW ABBREVIATION [DOID:0110570, MONDO:Lexical, OMIM:608652] xref: DOID:0110570 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110570"} @@ -239291,18 +239199,18 @@ synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" E xref: DOID:0070145 {source="MONDO:equivalentTo"} xref: GARD:0012328 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:12328 {source="DOID:0070145"} -xref: ICD10CM:G60.8 {source="Orphanet:64752", source="ORDO:64752/attributed", source="ORDO:64752/ntbt"} -xref: MESH:D000699 {source="Orphanet:64752", source="ORDO:64752/e"} +xref: ICD10CM:G60.8 {source="Orphanet:64752/attributed", source="Orphanet:64752/ntbt", source="Orphanet:64752"} +xref: MESH:D000699 {source="Orphanet:64752", source="Orphanet:64752/e"} xref: NCIT:C125386 {source="MONDO:subClassOf", source="DOID:0070145"} -xref: OMIM:608654 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:equivalentTo", source="ORDO:64752/e"} +xref: OMIM:608654 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:equivalentTo", source="Orphanet:64752/e"} xref: Orphanet:608654 {source="DOID:0070145"} xref: Orphanet:64752 {source="MONDO:equivalentTo", source="OMIM:608654"} xref: PMID:14976160 {source="DOID:0070145"} xref: PMID:77656 {source="DOID:0070145"} xref: SCTID:128206006 {source="DOID:0070145", source="MONDO:equivalentTo"} xref: SCTID:403605007 {source="DOID:0070145"} -xref: UMLS:C0002768 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:notFoundInDiseaseSubset", source="ORDO:64752/e"} -xref: UMLS:C0020075 {source="Orphanet:64752", source="DOID:0070145", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:64752/e", source="OMIM:608654"} +xref: UMLS:C0002768 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64752/e"} +xref: UMLS:C0020075 {source="Orphanet:64752", source="DOID:0070145", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64752/e", source="OMIM:608654"} is_a: MONDO:0015364 {source="DOID:0070145", source="OMIM:608654", source="Orphanet:64752/inferred"} ! hereditary sensory and autonomic neuropathy is_a: MONDO:0015366 {source="MONDO:Redundant", source="Orphanet:64752"} ! autosomal recessive hereditary sensory and autonomic neuropathy intersection_of: MONDO:0015366 ! autosomal recessive hereditary sensory and autonomic neuropathy @@ -239347,9 +239255,9 @@ name: intellectual disability-brachydactyly-Pierre Robin syndrome def: "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." [Orphanet:364577] subset: ordo_malformation_syndrome {source="Orphanet:364577"} synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [OMIM:608670] -xref: ICD10CM:Q87.0 {source="ORDO:364577/attributed", source="ORDO:364577/ntbt", source="Orphanet:364577"} +xref: ICD10CM:Q87.0 {source="Orphanet:364577", source="Orphanet:364577/attributed", source="Orphanet:364577/ntbt"} xref: MESH:C563880 {source="MONDO:equivalentTo"} -xref: OMIM:608670 {source="ORDO:364577/e", source="MONDO:equivalentTo", source="Orphanet:364577"} +xref: OMIM:608670 {source="MONDO:equivalentTo", source="Orphanet:364577", source="Orphanet:364577/e"} xref: Orphanet:364577 {source="MONDO:equivalentTo", source="OMIM:608670"} xref: UMLS:C1837564 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:364577", source="OMIM:608670"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:364577", source="indirect"} ! syndromic intellectual disability @@ -239378,8 +239286,8 @@ synonym: "CMT2L" EXACT ABBREVIATION [DOID:0110174, MONDO:Lexical, OMIM:608673, O synonym: "HSPB8 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110174 {source="MONDO:equivalentTo"} xref: GARD:0012432 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:99945", source="DOID:0110174", source="ORDO:99945/attributed", source="ORDO:99945/ntbt"} -xref: OMIM:608673 {source="ORDO:99945/e", source="MONDO:equivalentTo", source="Orphanet:99945", source="DOID:0110174"} +xref: ICD10CM:G60.0 {source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/attributed", source="Orphanet:99945/ntbt"} +xref: OMIM:608673 {source="MONDO:equivalentTo", source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/e"} xref: Orphanet:99945 {source="MONDO:equivalentTo", source="DOID:0110174", source="OMIM:608673"} xref: SCTID:719513008 {source="MONDO:equivalentTo"} xref: UMLS:C1837552 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608673"} @@ -239403,7 +239311,7 @@ xref: OMIM:608681 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="MONDO:subClassOf", source="OMIM:608681"} xref: UMLS:C1837549 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608681"} is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:608681", source="indirect"} ! spondylocostal dysostosis -is_a: MONDO:0010180 {source="OMIM:608681", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis +is_a: MONDO:0010180 {source="OMIM:608681", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0000359 ! spondylocostal dysostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29659 ! MESP2 relationship: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -239421,12 +239329,12 @@ synonym: "spinocerebellar ataxia with dysphonia" RELATED [OMIM:608687] synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687] xref: DOID:0050971 {source="MONDO:equivalentTo"} xref: GARD:0009997 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:101110", source="ORDO:101110/attributed", source="ORDO:101110/ntbt"} -xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="ORDO:101110/e"} -xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="ORDO:101110/e"} +xref: ICD10CM:G11.2 {source="Orphanet:101110", source="Orphanet:101110/attributed", source="Orphanet:101110/ntbt"} +xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="Orphanet:101110/e"} +xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="Orphanet:101110/e"} xref: Orphanet:101110 {source="MONDO:equivalentTo", source="OMIM:608687"} xref: SCTID:718771009 {source="MONDO:equivalentTo"} -xref: UMLS:C1837541 {source="Orphanet:101110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:101110/e", source="OMIM:608687"} +xref: UMLS:C1837541 {source="Orphanet:101110", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101110/e", source="OMIM:608687"} is_a: MONDO:0019792 {source="Orphanet:101110"} ! autosomal dominant cerebellar ataxia type I property_value: confidence "14.833333333333332" xsd:double @@ -239441,9 +239349,9 @@ synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [OMIM:608688] synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [OMIM:608688] synonym: "ATIC deficiency" EXACT [Orphanet:250977] synonym: "Atic deficiency" RELATED [OMIM:608688] -xref: ICD10CM:E79.8 {source="ORDO:250977/attributed", source="ORDO:250977/ntbt", source="Orphanet:250977"} +xref: ICD10CM:E79.8 {source="Orphanet:250977/attributed", source="Orphanet:250977/ntbt", source="Orphanet:250977"} xref: MESH:C563876 {source="MONDO:equivalentTo"} -xref: OMIM:608688 {source="MONDO:equivalentTo", source="ORDO:250977/e", source="Orphanet:250977"} +xref: OMIM:608688 {source="Orphanet:250977/e", source="MONDO:equivalentTo", source="Orphanet:250977"} xref: Orphanet:250977 {source="MONDO:equivalentTo", source="OMIM:608688"} xref: SCTID:725289009 {source="MONDO:equivalentTo"} xref: UMLS:C1837530 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608688", source="Orphanet:250977"} @@ -239483,7 +239391,7 @@ xref: MESH:C563874 {source="MONDO:equivalentTo"} xref: OMIM:608695 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="MONDO:subClassOf", source="OMIM:608695"} xref: UMLS:C1837528 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608695"} -is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma +is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -239498,7 +239406,7 @@ xref: MESH:C563873 {source="MONDO:equivalentTo"} xref: OMIM:608696 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="MONDO:subClassOf", source="OMIM:608696"} xref: UMLS:C1837527 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608696"} -is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma +is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.6519518666964457" xsd:double @@ -239511,12 +239419,12 @@ synonym: "SCA25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608703, Orphanet:101111 synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703] xref: DOID:0050974 {source="MONDO:equivalentTo"} xref: GARD:0009996 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:101111", source="ORDO:101111/attributed", source="ORDO:101111/ntbt"} -xref: MESH:C537202 {source="Orphanet:101111", source="ORDO:101111/e", source="MONDO:equivalentTo"} -xref: OMIM:608703 {source="Orphanet:101111", source="ORDO:101111/e", source="MONDO:equivalentTo", source="DOID:0050974"} +xref: ICD10CM:G11.8 {source="Orphanet:101111", source="Orphanet:101111/attributed", source="Orphanet:101111/ntbt"} +xref: MESH:C537202 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e"} +xref: OMIM:608703 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e", source="DOID:0050974"} xref: Orphanet:101111 {source="OMIM:608703", source="MONDO:equivalentTo"} xref: SCTID:718770005 {source="MONDO:equivalentTo"} -xref: UMLS:C1837518 {source="Orphanet:101111", source="ORDO:101111/e", source="OMIM:608703", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1837518 {source="Orphanet:101111", source="OMIM:608703", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101111/e"} is_a: MONDO:0019792 {source="Orphanet:101111"} ! autosomal dominant cerebellar ataxia type I property_value: confidence "2.2500000000000004" xsd:double @@ -239539,13 +239447,13 @@ synonym: "partial acquired lipodystrophy" EXACT [NCIT:C129723] synonym: "progressive cephalothoracic lipodystrophy" EXACT [Orphanet:79087] synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709] xref: GARD:0010509 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.1 {source="ORDO:79087/ntbt", source="Orphanet:79087"} +xref: ICD10CM:E88.1 {source="Orphanet:79087", source="Orphanet:79087/ntbt"} xref: MESH:C562448 {source="MONDO:equivalentTo"} xref: NCIT:C129723 {source="MONDO:equivalentTo"} -xref: OMIM:608709 {source="MONDO:relatedTo", source="ORDO:79087/e", source="Orphanet:79087"} +xref: OMIM:608709 {source="MONDO:relatedTo", source="Orphanet:79087", source="Orphanet:79087/e"} xref: Orphanet:79087 {source="MONDO:equivalentTo", source="OMIM:608709"} xref: SCTID:75659004 {source="MONDO:equivalentTo"} -xref: UMLS:C0220989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79087/e", source="OMIM:608709", source="Orphanet:79087", source="NCIT:C129723"} +xref: UMLS:C0220989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608709", source="Orphanet:79087", source="NCIT:C129723", source="Orphanet:79087/e"} is_a: MONDO:0015333 {source="Orphanet:79087"} ! progeroid syndrome is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79087"} ! acquired lipodystrophy is_a: MONDO:0027767 {source="MONDO:Redundant", source="NCIT:C129723"} ! partial lipodystrophy @@ -239573,14 +239481,14 @@ synonym: "Wg" BROAD DEPRECATED [OMIM:608710] xref: DOID:12132 {source="MONDO:equivalentTo", source="EFO:0005297"} xref: EFO:0005297 {source="MONDO:equivalentTo"} xref: GARD:0007880 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M31.3 {source="ORDO:900/e", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"} +xref: ICD10CM:M31.3 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"} xref: ICD10CM:M31.30 {source="DOID:12132"} xref: ICD9:446.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:12132", source="EFO:0005297"} -xref: MedDRA:10047888 {source="ORDO:900/e", source="Orphanet:900"} -xref: MESH:D014890 {source="ORDO:900/e", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"} +xref: MedDRA:10047888 {source="Orphanet:900", source="Orphanet:900/e"} +xref: MESH:D014890 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132", source="EFO:0005297"} xref: NCIT:C123111 {source="MONDO:equivalentTo"} xref: NCIT:C3444 {source="DOID:12132", source="EFO:0005297"} -xref: OMIM:608710 {source="ORDO:900/e", source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"} +xref: OMIM:608710 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"} xref: Orphanet:900 {source="MONDO:equivalentTo", source="OMIM:608710"} xref: SCTID:155445002 {source="DOID:12132"} xref: SCTID:195353004 {source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"} @@ -239588,7 +239496,7 @@ xref: SCTID:23782005 {source="DOID:12132"} xref: SCTID:239934006 {source="DOID:12132"} xref: SCTID:266323005 {source="DOID:12132"} xref: SCTID:390001000 {source="DOID:12132"} -xref: UMLS:C0043092 {source="ORDO:900/e", source="Orphanet:900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608710"} +xref: UMLS:C0043092 {source="Orphanet:900", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:900/e", source="OMIM:608710"} xref: UMLS:C3495801 {source="Orphanet:900", source="MONDO:equivalentTo", source="DOID:12132"} xref: UMLS:C4050407 {source="MONDO:equivalentTo", source="NCIT:C123111"} is_a: MONDO:0002462 {source="NCIT:C123111", source="linkedlifedata/inferred"} ! glomerulonephritis @@ -239640,9 +239548,9 @@ synonym: "spondyloepimetaphyseal dysplasia matrilin-3 type" RELATED [GARD:001061 synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXACT [OMIM:608728, OMIM:genemap2] synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728] xref: GARD:0010611 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="Orphanet:156728", source="ORDO:156728/attributed", source="ORDO:156728/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:156728/attributed", source="Orphanet:156728/ntbt", source="Orphanet:156728"} xref: MESH:C563869 {source="MONDO:equivalentTo"} -xref: OMIM:608728 {source="MONDO:equivalentTo", source="Orphanet:156728", source="ORDO:156728/e"} +xref: OMIM:608728 {source="Orphanet:156728/e", source="MONDO:equivalentTo", source="Orphanet:156728"} xref: Orphanet:156728 {source="MONDO:equivalentTo", source="OMIM:608728"} xref: SCTID:719166003 {source="MONDO:equivalentTo"} xref: UMLS:C1837481 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608728", source="Orphanet:156728"} @@ -239678,9 +239586,9 @@ synonym: "insulin-like growth Factor 1 deficiency" RELATED [OMIM:608747] synonym: "insulin-like growth factor I deficiency" RELATED [OMIM:608747] synonym: "primary insulin-like growth factor deficiency" EXACT [Orphanet:73272] xref: GARD:0010627 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E34.3 {source="ORDO:73272/attributed", source="ORDO:73272/ntbt", source="Orphanet:73272"} +xref: ICD10CM:E34.3 {source="Orphanet:73272/attributed", source="Orphanet:73272/ntbt", source="Orphanet:73272"} xref: MESH:C563867 {source="MONDO:equivalentTo"} -xref: OMIM:608747 {source="MONDO:equivalentTo", source="ORDO:73272/e", source="Orphanet:73272"} +xref: OMIM:608747 {source="Orphanet:73272/e", source="MONDO:equivalentTo", source="Orphanet:73272"} xref: Orphanet:73272 {source="OMIM:608747", source="MONDO:equivalentTo"} xref: SCTID:724385009 {source="MONDO:equivalentTo"} xref: UMLS:C1837475 {source="OMIM:608747", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:73272"} @@ -239790,12 +239698,12 @@ synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical, OMIM:608768] synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768] xref: DOID:0050959 {source="MONDO:equivalentTo"} xref: GARD:0004956 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="ORDO:98760/attributed", source="ORDO:98760/ntbt", source="Orphanet:98760"} -xref: MESH:C537307 {source="ORDO:98760/e", source="Orphanet:98760"} -xref: OMIM:608768 {source="MONDO:equivalentTo", source="ORDO:98760/e", source="DOID:0050959", source="Orphanet:98760"} +xref: ICD10CM:G11.2 {source="Orphanet:98760/attributed", source="Orphanet:98760/ntbt", source="Orphanet:98760"} +xref: MESH:C537307 {source="Orphanet:98760/e", source="Orphanet:98760"} +xref: OMIM:608768 {source="Orphanet:98760/e", source="MONDO:equivalentTo", source="DOID:0050959", source="Orphanet:98760"} xref: Orphanet:98760 {source="OMIM:608768", source="MONDO:equivalentTo"} xref: SCTID:715753001 {source="MONDO:equivalentTo"} -xref: UMLS:C1837454 {source="OMIM:608768", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98760/e", source="Orphanet:98760"} +xref: UMLS:C1837454 {source="OMIM:608768", source="NCBI:mim2gene_medline", source="Orphanet:98760/e", source="MONDO:equivalentTo", source="Orphanet:98760"} xref: UMLS:C4275024 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98760"} ! autosomal dominant cerebellar ataxia type I property_value: confidence "14.833333333333332" xsd:double @@ -239819,10 +239727,10 @@ synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical, synonym: "mannosyltransferase 7-9 deficiency" EXACT [Orphanet:79328] xref: DOID:0080564 {source="MONDO:equivalentTo"} xref: GARD:0009839 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:79328", source="ORDO:79328/attributed", source="ORDO:79328/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:79328", source="Orphanet:79328/attributed", source="Orphanet:79328/ntbt"} xref: MESH:C535750 {source="MONDO:equivalentTo"} xref: OMIM:263210 {source="Orphanet:79328", source="MONDO:superClassOf"} -xref: OMIM:608776 {source="ORDO:79328/e", source="Orphanet:79328", source="MONDO:equivalentTo"} +xref: OMIM:608776 {source="Orphanet:79328", source="MONDO:equivalentTo", source="Orphanet:79328/e"} xref: Orphanet:79328 {source="MONDO:equivalentTo", source="OMIM:608776"} xref: SCTID:720978005 {source="MONDO:equivalentTo"} xref: UMLS:C1837438 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -239854,9 +239762,9 @@ synonym: "congenital disorder of glycosylation type 2e" EXACT [Orphanet:79333] synonym: "congenital disorder of glycosylation type IIe" EXACT [Orphanet:79333] synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical, OMIM:608779] xref: GARD:0009842 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79333/attributed", source="ORDO:79333/ntbt", source="Orphanet:79333"} +xref: ICD10CM:E77.8 {source="Orphanet:79333/attributed", source="Orphanet:79333/ntbt", source="Orphanet:79333"} xref: MESH:C535754 {source="MONDO:equivalentTo"} -xref: OMIM:608779 {source="MONDO:equivalentTo", source="ORDO:79333/e", source="Orphanet:79333"} +xref: OMIM:608779 {source="Orphanet:79333/e", source="MONDO:equivalentTo", source="Orphanet:79333"} xref: Orphanet:79333 {source="OMIM:608779", source="MONDO:equivalentTo"} xref: SCTID:717773005 {source="MONDO:equivalentTo"} xref: UMLS:C1837437 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -239899,12 +239807,12 @@ synonym: "PDH phosphatase deficiency" EXACT [Orphanet:79246] synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608782] synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:608782] xref: GARD:0009888 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.4 {source="ORDO:79246/attributed", source="ORDO:79246/ntbt", source="Orphanet:79246"} -xref: MESH:C536258 {source="MONDO:equivalentTo", source="ORDO:79246/e", source="Orphanet:79246"} -xref: OMIM:608782 {source="MONDO:equivalentTo", source="ORDO:79246/e", source="Orphanet:79246"} +xref: ICD10CM:E74.4 {source="Orphanet:79246/attributed", source="Orphanet:79246/ntbt", source="Orphanet:79246"} +xref: MESH:C536258 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} +xref: OMIM:608782 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} xref: Orphanet:765 {source="MONDO:subClassOf", source="OMIM:608782"} xref: Orphanet:79246 {source="MONDO:equivalentTo", source="OMIM:608782"} -xref: UMLS:C1837429 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:79246/e", source="OMIM:608782", source="Orphanet:79246"} +xref: UMLS:C1837429 {source="NCBI:mim2gene_medline", source="Orphanet:79246/e", source="MONDO:equivalentTo", source="OMIM:608782", source="Orphanet:79246"} is_a: MONDO:0019169 {source="DC-OMIM:608782", source="OMIM:608782", source="Orphanet:79246"} ! pyruvate dehydrogenase deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9279 {source="mim2gene_medgen"} ! PDP1 property_value: confidence "5.0" xsd:double @@ -239958,10 +239866,10 @@ synonym: "DPM1-CDG" RELATED [Orphanet:79322] synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831] xref: DOID:0080557 {source="MONDO:equivalentTo"} xref: GARD:0009831 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79322/attributed", source="ORDO:79322/ntbt", source="Orphanet:79322"} +xref: ICD10CM:E77.8 {source="Orphanet:79322/attributed", source="Orphanet:79322/ntbt", source="Orphanet:79322"} xref: MESH:C535743 {source="MONDO:equivalentTo"} xref: NCIT:C126871 {source="MONDO:equivalentTo"} -xref: OMIM:608799 {source="MONDO:equivalentTo", source="ORDO:79322/e", source="Orphanet:79322"} +xref: OMIM:608799 {source="Orphanet:79322/e", source="MONDO:equivalentTo", source="Orphanet:79322"} xref: Orphanet:79322 {source="OMIM:608799", source="MONDO:equivalentTo"} xref: SCTID:725078006 {source="MONDO:equivalentTo"} xref: UMLS:C1837396 {source="OMIM:608799", source="NCIT:C126871", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79322"} @@ -239984,9 +239892,9 @@ synonym: "SIDDT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608800, Orphanet:168593 synonym: "sudden infant death - dysgenesis of the testes" RELATED [GARD:0012382] synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical, OMIM:608800] xref: GARD:0012382 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G90.8 {source="ORDO:168593/attributed", source="ORDO:168593/ntbt", source="Orphanet:168593"} +xref: ICD10CM:G90.8 {source="Orphanet:168593/attributed", source="Orphanet:168593/ntbt", source="Orphanet:168593"} xref: MESH:C563856 {source="MONDO:equivalentTo"} -xref: OMIM:608800 {source="MONDO:equivalentTo", source="ORDO:168593/e", source="Orphanet:168593"} +xref: OMIM:608800 {source="Orphanet:168593/e", source="MONDO:equivalentTo", source="Orphanet:168593"} xref: Orphanet:168593 {source="OMIM:608800", source="MONDO:equivalentTo"} xref: UMLS:C1837371 {source="OMIM:608800", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168593"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:168593"} ! respiratory system disorder @@ -240014,9 +239922,9 @@ synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:00 synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [OMIM:608804] synonym: "PMLD1" EXACT ABBREVIATION [DOID:0060787, Orphanet:280282] xref: DOID:0060787 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:280282", source="DOID:0060787", source="ORDO:280282/attributed", source="ORDO:280282/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:280282/attributed", source="Orphanet:280282/ntbt", source="Orphanet:280282", source="DOID:0060787"} xref: MESH:C563855 {source="MONDO:equivalentTo"} -xref: OMIM:608804 {source="ORDO:280282/e", source="Orphanet:280282", source="DOID:0060787", source="MONDO:equivalentTo"} +xref: OMIM:608804 {source="Orphanet:280282", source="DOID:0060787", source="MONDO:equivalentTo", source="Orphanet:280282/e"} xref: Orphanet:280270 {source="MONDO:subClassOf", source="OMIM:608804"} xref: Orphanet:280282 {source="OMIM:608804", source="DOID:0060787", source="MONDO:equivalentTo"} xref: UMLS:C1837355 {source="OMIM:608804", source="NCBI:mim2gene_medline", source="Orphanet:280282", source="MONDO:equivalentTo"} @@ -240049,10 +239957,10 @@ synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805] synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914] xref: GARD:0010914 {source="MONDO:equivalentTo"} -xref: ICD10CM:M87.8 {source="Orphanet:86820", source="ORDO:86820/attributed", source="ORDO:86820/ntbt"} +xref: ICD10CM:M87.8 {source="Orphanet:86820/attributed", source="Orphanet:86820/ntbt", source="Orphanet:86820"} xref: MESH:D005271 {source="MONDO:equivalentTo"} xref: NCIT:C35480 {source="MONDO:equivalentTo"} -xref: OMIM:608805 {source="ORDO:86820/e", source="Orphanet:86820", source="MONDO:superClassOf"} +xref: OMIM:608805 {source="Orphanet:86820", source="MONDO:superClassOf", source="Orphanet:86820/e"} xref: OMIM:617383 {source="Orphanet:86820", source="MONDO:superClassOf"} xref: OMIMPS:608805 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:86820 {source="MONDO:equivalentTo", source="OMIM:608805"} @@ -240080,9 +239988,9 @@ synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:L synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110283 {source="MONDO:equivalentTo"} xref: GARD:0012534 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110283", source="ORDO:140922/attributed", source="ORDO:140922/ntbt", source="Orphanet:140922"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:140922/attributed", source="Orphanet:140922/ntbt", source="DOID:0110283", source="Orphanet:140922"} xref: MESH:C563854 {source="MONDO:equivalentTo"} -xref: OMIM:608807 {source="MONDO:equivalentTo", source="DOID:0110283", source="ORDO:140922/e", source="Orphanet:140922"} +xref: OMIM:608807 {source="Orphanet:140922/e", source="MONDO:equivalentTo", source="DOID:0110283", source="Orphanet:140922"} xref: Orphanet:140922 {source="MONDO:equivalentTo", source="DOID:0110283", source="OMIM:608807"} xref: UMLS:C1837342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608807", source="Orphanet:140922"} is_a: MONDO:0015152 {source="DOID:0110283", source="MONDO:Redundant", source="OMIM:608807", source="Orphanet:140922"} ! autosomal recessive limb-girdle muscular dystrophy @@ -240148,9 +240056,9 @@ synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [OMIM:6088 synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1, OMIM:608810] synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [OMIM:608810] xref: DOID:0080093 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399058", source="ORDO:399058/attributed", source="ORDO:399058/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399058/attributed", source="Orphanet:399058/ntbt", source="Orphanet:399058"} xref: MESH:C563848 {source="MONDO:equivalentTo"} -xref: OMIM:608810 {source="ORDO:399058/e", source="Orphanet:399058", source="MONDO:equivalentTo", source="DOID:0080093"} +xref: OMIM:608810 {source="Orphanet:399058", source="MONDO:equivalentTo", source="Orphanet:399058/e", source="DOID:0080093"} xref: Orphanet:399058 {source="MONDO:equivalentTo"} xref: Orphanet:98910 {source="MONDO:subClassOf", source="OMIM:608810"} xref: UMLS:C1837317 {source="OMIM:608810", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -240260,9 +240168,9 @@ synonym: "CPT2, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPT2, neonatal form" EXACT [Orphanet:228308] synonym: "CPTII, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPTII, neonatal form" EXACT [Orphanet:228308] -xref: ICD10CM:E71.3 {source="Orphanet:228308", source="ORDO:228308/attributed", source="ORDO:228308/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:228308/attributed", source="Orphanet:228308/ntbt", source="Orphanet:228308"} xref: MESH:C563463 {source="MONDO:equivalentTo"} -xref: OMIM:608836 {source="Orphanet:228308", source="ORDO:228308/e", source="MONDO:equivalentTo"} +xref: OMIM:608836 {source="Orphanet:228308", source="MONDO:equivalentTo", source="Orphanet:228308/e"} xref: Orphanet:157 {source="MONDO:subClassOf", source="OMIM:608836"} xref: Orphanet:228308 {source="OMIM:608836", source="MONDO:equivalentTo"} xref: UMLS:C1833518 {source="Orphanet:228308", source="NCBI:mim2gene_medline", source="OMIM:608836", source="MONDO:equivalentTo"} @@ -240278,8 +240186,8 @@ def: "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic hear subset: ordo_disease {source="Orphanet:319340"} synonym: "CARNEY complex variant" RELATED [OMIM:608837] synonym: "Carney complex variant" EXACT [Orphanet:319340] -xref: ICD10CM:Q68.8 {source="ORDO:319340/attributed", source="ORDO:319340/ntbt", source="Orphanet:319340"} -xref: OMIM:608837 {source="ORDO:319340/e", source="MONDO:equivalentTo", source="Orphanet:319340"} +xref: ICD10CM:Q68.8 {source="Orphanet:319340", source="Orphanet:319340/attributed", source="Orphanet:319340/ntbt"} +xref: OMIM:608837 {source="MONDO:equivalentTo", source="Orphanet:319340", source="Orphanet:319340/e"} xref: Orphanet:319340 {source="OMIM:608837", source="MONDO:equivalentTo"} xref: UMLS:C1837245 {source="OMIM:608837", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:319340"} is_a: MONDO:0015285 {source="DC-OMIM:608837"} ! Carney complex @@ -240371,9 +240279,9 @@ xref: OMIM:608874 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="MONDO:subClassOf", source="OMIM:608874"} xref: UMLS:C1837210 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608874"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:608874", source="indirect"} ! orofacial cleft -is_a: MONDO:0015420 {source="ORDO:141291/btnt"} ! cleft lip and alveolus -is_a: MONDO:0016043 {source="ORDO:199302/btnt"} ! isolated cleft lip -is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate +is_a: MONDO:0015420 {source="Orphanet:141291/btnt"} ! cleft lip and alveolus +is_a: MONDO:0016043 {source="Orphanet:199302/btnt"} ! isolated cleft lip +is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7391 ! MSX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7391 {source="mim2gene_medgen"} ! MSX1 @@ -240393,9 +240301,9 @@ synonym: "sdCHC" EXACT [Orphanet:168577] synonym: "SDCHCN" RELATED ABBREVIATION [OMIM:608885] synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577] synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885] -xref: ICD10CM:D58.8 {source="Orphanet:168577", source="ORDO:168577/attributed", source="ORDO:168577/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:168577/attributed", source="Orphanet:168577/ntbt", source="Orphanet:168577"} xref: MESH:C563840 {source="MONDO:equivalentTo"} -xref: OMIM:608885 {source="ORDO:168577/e", source="Orphanet:168577", source="MONDO:equivalentTo"} +xref: OMIM:608885 {source="Orphanet:168577", source="MONDO:equivalentTo", source="Orphanet:168577/e"} xref: Orphanet:168577 {source="MONDO:equivalentTo", source="OMIM:608885"} xref: UMLS:C1837206 {source="NCBI:mim2gene_medline", source="Orphanet:168577", source="MONDO:equivalentTo", source="OMIM:608885"} is_a: MONDO:0000508 {source="Orphanet:168577"} ! syndromic intellectual disability @@ -240603,7 +240511,7 @@ xref: OMIM:608908 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="MONDO:subClassOf", source="OMIM:608908"} xref: UMLS:C1837148 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2681911 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:608908"} -is_a: MONDO:0001384 {source="DC-OMIM:608908", source="MESH:C536105", source="MONDO:Redundant", source="OMIM:608908", source="ORDO:98619/btnt", source="indirect"} ! myopia +is_a: MONDO:0001384 {source="DC-OMIM:608908", source="MESH:C536105", source="MONDO:Redundant", source="OMIM:608908", source="Orphanet:98619/btnt", source="indirect"} ! myopia intersection_of: MONDO:0001384 ! myopia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10604 ! SCO2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10604 {source="mim2gene_medgen"} ! SCO2 @@ -240622,12 +240530,12 @@ synonym: "imperforate nares" EXACT [DOID:9574] synonym: "PCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608911] synonym: "posterior choanal atresia" EXACT [DOID:9574] xref: DOID:9574 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"} +xref: ICD10CM:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: ICD9:748.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:9574"} -xref: MedDRA:10008587 {source="Orphanet:137914", source="ORDO:137914/e"} +xref: MedDRA:10008587 {source="Orphanet:137914", source="Orphanet:137914/e"} xref: MESH:C562435 {source="DOID:9574"} -xref: MESH:D002754 {source="MONDO:equivalentTo", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"} -xref: OMIM:608911 {source="MONDO:equivalentTo", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"} +xref: MESH:D002754 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} +xref: OMIM:608911 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: Orphanet:137914 {source="OMIM:608911", source="MONDO:equivalentTo"} xref: SCTID:14988006 {source="DOID:9574"} xref: SCTID:156934002 {source="DOID:9574"} @@ -240635,7 +240543,7 @@ xref: SCTID:204508009 {source="MONDO:equivalentTo", source="DOID:9574"} xref: SCTID:204509001 {source="DOID:9574"} xref: SCTID:204514002 {source="DOID:9574"} xref: SCTID:53458004 {source="DOID:9574"} -xref: UMLS:C0008297 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137914", source="ORDO:137914/e", source="DOID:9574"} +xref: UMLS:C0008297 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: UMLS:C0220723 {source="OMIM:608911", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:9574"} is_a: MONDO:0002232 {source="DOID:9574", source="linkedlifedata/inferred"} ! nasal cavity disorder is_a: MONDO:0003847 {source="linkedlifedata"} ! Mendelian disease @@ -240658,7 +240566,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:608930"} xref: UMLS:C1837122 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608930"} xref: UMLS:C4225405 {source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110662", source="MONDO:Redundant", source="OMIM:608930", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt", source="indirect"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt", source="indirect"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of GO:0098975 ! postsynapse of neuromuscular junction relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1955 {source="mim2gene_medgen"} ! CHRNA1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -240692,7 +240600,7 @@ xref: UMLS:C1837091 {source="OMIM:608931", source="NCBI:mim2gene_medline", sourc xref: UMLS:C1837092 {source="OMIM:608931", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1837094 {source="OMIM:608931", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018940 {source="DOID:0110679", source="MONDO:Redundant", source="OMIM:608931", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1966 ! CHRNE intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4241 ! GFPT1 @@ -240732,9 +240640,9 @@ synonym: "SMDCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608940] synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical, OMIM:608940] synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT CLINGEN_PREFERRED [] xref: GARD:0010647 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.8 {source="Orphanet:85167", source="ORDO:85167/attributed", source="ORDO:85167/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:85167", source="Orphanet:85167/attributed", source="Orphanet:85167/ntbt"} xref: MESH:C563825 {source="MONDO:equivalentTo"} -xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="ORDO:85167/e"} +xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="Orphanet:85167/e"} xref: Orphanet:85167 {source="MONDO:equivalentTo", source="OMIM:608940"} xref: UMLS:C1837073 {source="Orphanet:85167", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608940"} is_a: MONDO:0016763 {source="Orphanet:85167"} ! spondylometaphyseal dysplasia @@ -240750,9 +240658,9 @@ subset: predisposition synonym: "CD8 deficiency, familial" RELATED [OMIM:608957] synonym: "familial CD8 deficiency" EXACT [Orphanet:169085] synonym: "susceptibility to respiratory infections associated with CD8alpha chain mutation" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:D84.8 {source="ORDO:169085/attributed", source="ORDO:169085/ntbt", source="Orphanet:169085"} +xref: ICD10CM:D84.8 {source="Orphanet:169085", source="Orphanet:169085/attributed", source="Orphanet:169085/ntbt"} xref: MESH:C563824 {source="MONDO:equivalentTo"} -xref: OMIM:608957 {source="MONDO:equivalentTo", source="Orphanet:169085", source="ORDO:169085/e"} +xref: OMIM:608957 {source="Orphanet:169085/e", source="MONDO:equivalentTo", source="Orphanet:169085"} xref: Orphanet:169085 {source="OMIM:608957", source="MONDO:equivalentTo"} xref: SCTID:766983005 {source="MONDO:equivalentTo"} xref: UMLS:C1837065 {source="NCBI:mim2gene_medline", source="OMIM:608957", source="MONDO:equivalentTo", source="Orphanet:169085"} @@ -240816,8 +240724,8 @@ synonym: "Meacham Winn Culler syndrome" RELATED [GARD:0003432] synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097] synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097] xref: GARD:0003432 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:3097", source="ORDO:3097/attributed", source="ORDO:3097/ntbt"} -xref: OMIM:608978 {source="MONDO:equivalentTo", source="Orphanet:3097", source="ORDO:3097/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3097/attributed", source="Orphanet:3097/ntbt", source="Orphanet:3097"} +xref: OMIM:608978 {source="Orphanet:3097/e", source="MONDO:equivalentTo", source="Orphanet:3097"} xref: Orphanet:3097 {source="OMIM:608978", source="MONDO:equivalentTo"} xref: SCTID:722461004 {source="MONDO:equivalentTo"} xref: UMLS:C1837026 {source="OMIM:608978", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3097"} @@ -240840,9 +240748,9 @@ synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MON synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [Orphanet:217266] synonym: "BNAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608980] xref: GARD:0010595 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:217266/attributed", source="ORDO:217266/ntbt", source="Orphanet:217266"} +xref: ICD10CM:Q87.8 {source="Orphanet:217266/attributed", source="Orphanet:217266/ntbt", source="Orphanet:217266"} xref: MESH:C567672 {source="MONDO:equivalentTo"} -xref: OMIM:608980 {source="MONDO:equivalentTo", source="ORDO:217266/e", source="Orphanet:217266"} +xref: OMIM:608980 {source="Orphanet:217266/e", source="MONDO:equivalentTo", source="Orphanet:217266"} xref: Orphanet:217266 {source="MONDO:equivalentTo", source="OMIM:608980"} xref: SCTID:717940006 {source="MONDO:equivalentTo"} xref: UMLS:C2750433 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608980", source="Orphanet:217266"} @@ -240968,14 +240876,14 @@ synonym: "trifunctional Protein deficiency" RELATED [OMIM:609015] synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [OMIM:609015] xref: DOID:0111277 {source="MONDO:equivalentTo"} xref: GARD:0003684 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="Orphanet:746", source="ORDO:746/attributed", source="ORDO:746/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:746/attributed", source="Orphanet:746/ntbt", source="Orphanet:746"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C566945 {source="ORDO:746/e", source="Orphanet:746", source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"} +xref: MESH:C566945 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e", source="https://github.com/monarch-initiative/mondo/issues/2212"} xref: NCIT:C98991 {source="MONDO:equivalentTo"} -xref: OMIM:609015 {source="ORDO:746/e", source="Orphanet:746", source="MONDO:equivalentTo"} +xref: OMIM:609015 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e"} xref: Orphanet:746 {source="MONDO:equivalentTo", source="OMIM:609015"} xref: SCTID:237999008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342786 {source="ORDO:746/e", source="Orphanet:746", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0342786 {source="Orphanet:746", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:746/e"} xref: UMLS:C1969443 {source="Orphanet:746", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C98991", source="OMIM:609015"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98991", source="indirect"} ! inherited lipid metabolism disorder is_a: MONDO:0009637 {source="Orphanet:746"} ! inborn mitochondrial myopathy @@ -241000,12 +240908,12 @@ synonym: "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" EXACT [O synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:0006867] synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867] xref: GARD:0006867 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E71.3 {source="Orphanet:5", source="ORDO:5/attributed", source="ORDO:5/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:5", source="Orphanet:5/attributed", source="Orphanet:5/ntbt"} xref: NCIT:C129929 {source="MONDO:equivalentTo"} -xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="ORDO:5/e"} +xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="Orphanet:5/e"} xref: Orphanet:5 {source="MONDO:equivalentTo", source="OMIM:609016"} xref: SCTID:726021008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342786 {source="Orphanet:5", source="MONDO:notFoundInDiseaseSubset", source="ORDO:5/e"} +xref: UMLS:C0342786 {source="Orphanet:5", source="Orphanet:5/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1969443 {source="Orphanet:5", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609016"} xref: UMLS:C3711645 {source="MONDO:equivalentTo"} xref: UMLS:CN074230 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -241059,13 +240967,13 @@ synonym: "supernumerary der(22) syndrome" EXACT [Orphanet:96170] synonym: "supernumerary der(22),t(11;22) syndrome" RELATED [GARD:0009835] synonym: "supernumerary Der(22)T(11" RELATED [OMIM:609029] xref: GARD:0009835 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.6 {source="ORDO:96170/attributed", source="ORDO:96170/ntbt", source="Orphanet:96170"} +xref: ICD10CM:Q92.6 {source="Orphanet:96170", source="Orphanet:96170/attributed", source="Orphanet:96170/ntbt"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535733 {source="MONDO:equivalentTo", source="ORDO:96170/e", source="Orphanet:96170"} -xref: OMIM:609029 {source="MONDO:equivalentTo", source="ORDO:96170/e", source="Orphanet:96170"} +xref: MESH:C535733 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"} +xref: OMIM:609029 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"} xref: Orphanet:96170 {source="MONDO:equivalentTo", source="OMIM:609029"} xref: SCTID:702417004 {source="MONDO:equivalentTo"} -xref: UMLS:C1836929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:96170/e", source="Orphanet:96170", source="OMIM:609029"} +xref: UMLS:C1836929 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:96170", source="OMIM:609029", source="Orphanet:96170/e"} is_a: MONDO:0003847 {source="MESH:C535733/inferred", source="Orphanet:96170/inferred", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0015216 {source="Orphanet:96170"} ! syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0015880 {source="Orphanet:96170"} ! syndromic diaphragmatic or thoracic malformation @@ -241085,12 +240993,12 @@ synonym: "PCARP" EXACT ABBREVIATION [Orphanet:88628] synonym: "Pcarp" RELATED [OMIM:609033] synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:609033] xref: GARD:0009898 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="ORDO:88628/attributed", source="ORDO:88628/ntbt", source="Orphanet:88628"} -xref: MESH:C536343 {source="ORDO:88628/e", source="MONDO:equivalentTo", source="Orphanet:88628"} -xref: OMIM:609033 {source="ORDO:88628/e", source="MONDO:equivalentTo", source="Orphanet:88628"} +xref: ICD10CM:G11.1 {source="Orphanet:88628", source="Orphanet:88628/attributed", source="Orphanet:88628/ntbt"} +xref: MESH:C536343 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"} +xref: OMIM:609033 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"} xref: Orphanet:88628 {source="MONDO:equivalentTo", source="OMIM:609033"} xref: SCTID:724065003 {source="MONDO:equivalentTo"} -xref: UMLS:C1836916 {source="ORDO:88628/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609033", source="Orphanet:88628"} +xref: UMLS:C1836916 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609033", source="Orphanet:88628", source="Orphanet:88628/e"} xref: UMLS:C4510304 {source="MONDO:equivalentTo"} is_a: MONDO:0020046 {source="Orphanet:88628"} ! autosomal recessive degenerative and progressive cerebellar ataxia is_a: MONDO:0100449 {source="https://clinicalgenome.org/affiliation/40072/"} ! FLVCR1-related retinopathy with or without ataxia @@ -241140,7 +241048,7 @@ xref: MESH:C563808 {source="MONDO:equivalentTo"} xref: OMIM:609040 {source="MONDO:equivalentTo", source="DOID:0110077"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:609040"} xref: UMLS:C1836906 {source="NCBI:mim2gene_medline", source="OMIM:609040", source="MONDO:equivalentTo"} -is_a: MONDO:0016342 {source="DOID:0110077", source="MESH:C563808", source="MONDO:Redundant", source="OMIM:609040", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110077", source="MESH:C563808", source="MONDO:Redundant", source="OMIM:609040", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9024 ! PKP2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9024 {source="mim2gene_medgen"} ! PKP2 @@ -241157,9 +241065,9 @@ synonym: "hereditary spastic paraplegia type 27" EXACT [DOID:0110778, MONDORULE: synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609041] synonym: "SPG27" EXACT ABBREVIATION [DOID:0110778, MONDO:Lexical, OMIM:609041, Orphanet:101007] xref: DOID:0110778 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110778", source="ORDO:101007/attributed", source="ORDO:101007/ntbt", source="Orphanet:101007"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110778", source="Orphanet:101007", source="Orphanet:101007/attributed", source="Orphanet:101007/ntbt"} xref: MESH:C563807 {source="MONDO:equivalentTo"} -xref: OMIM:609041 {source="DOID:0110778", source="MONDO:equivalentTo", source="Orphanet:101007", source="ORDO:101007/e"} +xref: OMIM:609041 {source="DOID:0110778", source="MONDO:equivalentTo", source="Orphanet:101007", source="Orphanet:101007/e"} xref: Orphanet:101007 {source="DOID:0110778", source="OMIM:609041", source="MONDO:equivalentTo"} xref: UMLS:C1836899 {source="OMIM:609041", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101007"} is_a: MONDO:0015089 {source="Orphanet:101007"} ! autosomal recessive complex spastic paraplegia @@ -241187,7 +241095,7 @@ synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [OMIM:609048 xref: OMIM:609048 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:609048"} xref: UMLS:C1836892 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609048"} -is_a: MONDO:0018961 {source="MONDO:Redundant", source="ORDO:618/btnt", source="indirect"} ! familial melanoma +is_a: MONDO:0018961 {source="MONDO:Redundant", source="Orphanet:618/btnt", source="indirect"} ! familial melanoma is_a: MONDO:0020573 {source="OMIM:609048"} ! inherited disease susceptibility is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:609048"} ! familial cutaneous melanoma intersection_of: MONDO:0024462 ! familial cutaneous melanoma @@ -241211,13 +241119,13 @@ synonym: "Pierson syndrome" EXACT [OMIM:609049] xref: DOID:0060852 {source="MONDO:equivalentTo"} xref: GARD:0003945 {source="MONDO:relatedTo"} xref: GARD:0009420 {source="MONDO:equivalentTo"} -xref: ICD10CM:N04.8 {source="DOID:0060852", source="ORDO:2670/attributed", source="ORDO:2670/ntbt", source="Orphanet:2670"} -xref: MESH:C537185 {source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670", source="ORDO:2670/e"} +xref: ICD10CM:N04.8 {source="DOID:0060852", source="Orphanet:2670/attributed", source="Orphanet:2670/ntbt", source="Orphanet:2670"} +xref: MESH:C537185 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} xref: NCIT:C128145 {source="MONDO:equivalentTo"} -xref: OMIM:609049 {source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670", source="ORDO:2670/e"} +xref: OMIM:609049 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} xref: Orphanet:2670 {source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049"} xref: SCTID:723449004 {source="MONDO:equivalentTo"} -xref: UMLS:C1836876 {source="NCIT:C128145", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049", source="Orphanet:2670", source="ORDO:2670/e"} +xref: UMLS:C1836876 {source="NCIT:C128145", source="Orphanet:2670/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049", source="Orphanet:2670"} is_a: MONDO:0002350 {source="NCIT:C128145"} ! familial nephrotic syndrome is_a: MONDO:0006025 {source="DOID:0060852", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015163 {source="Orphanet:2670"} ! primary glomerular disease @@ -241235,9 +241143,9 @@ synonym: "spondylometaphyseal dysplasia A4 type" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia type A4" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052] xref: GARD:0000458 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="Orphanet:168555", source="ORDO:168555/attributed", source="ORDO:168555/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:168555/attributed", source="Orphanet:168555/ntbt", source="Orphanet:168555"} xref: MESH:C563803 {source="MONDO:equivalentTo"} -xref: OMIM:609052 {source="ORDO:168555/e", source="Orphanet:168555", source="MONDO:equivalentTo"} +xref: OMIM:609052 {source="Orphanet:168555", source="MONDO:equivalentTo", source="Orphanet:168555/e"} xref: Orphanet:168555 {source="OMIM:609052", source="MONDO:equivalentTo"} xref: UMLS:C1836862 {source="OMIM:609052", source="NCBI:mim2gene_medline", source="Orphanet:168555", source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="DC-OMIM:609052", source="Orphanet:168555"} ! spondylometaphyseal dysplasia @@ -241294,9 +241202,9 @@ synonym: "CLN9 disease" RELATED [Orphanet:228357] synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [DOID:0110733, MONDORULE:1] xref: DOID:0110733 {source="MONDO:equivalentTo"} xref: GARD:0006618 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110733", source="ORDO:228357/attributed", source="ORDO:228357/ntbt", source="Orphanet:228357"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110733", source="Orphanet:228357/attributed", source="Orphanet:228357/ntbt", source="Orphanet:228357"} xref: MESH:C537953 {source="MONDO:equivalentTo"} -xref: OMIM:609055 {source="DOID:0110733", source="MONDO:equivalentTo", source="Orphanet:228357", source="ORDO:228357/e"} +xref: OMIM:609055 {source="DOID:0110733", source="Orphanet:228357/e", source="MONDO:equivalentTo", source="Orphanet:228357"} xref: Orphanet:228357 {source="DOID:0110733", source="MONDO:equivalentTo", source="OMIM:609055"} xref: Orphanet:79264 {source="MONDO:subClassOf", source="OMIM:609055"} xref: UMLS:C1836841 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609055", source="Orphanet:228357"} @@ -241321,7 +241229,7 @@ synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057] synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] xref: MESH:C563798 {source="MONDO:equivalentTo"} -xref: OMIM:609057 {source="ORDO:300333/e", source="Orphanet:300333", source="MONDO:equivalentTo"} +xref: OMIM:609057 {source="Orphanet:300333", source="MONDO:equivalentTo", source="Orphanet:300333/e"} xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"} xref: UMLS:C1836823 {source="Orphanet:300333", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609057"} is_a: MONDO:0017610 {source="OMIM:609057"} ! epidermolysis bullosa simplex @@ -241345,10 +241253,10 @@ synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681] synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060] xref: DOID:0111474 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:137681/attributed", source="ORDO:137681/ntbt", source="Orphanet:137681"} +xref: ICD10CM:E88.8 {source="Orphanet:137681/attributed", source="Orphanet:137681/ntbt", source="Orphanet:137681"} xref: MESH:C563797 {source="MONDO:equivalentTo"} xref: NCIT:C125663 {source="MONDO:equivalentTo"} -xref: OMIM:609060 {source="MONDO:equivalentTo", source="ORDO:137681/e", source="Orphanet:137681"} +xref: OMIM:609060 {source="Orphanet:137681/e", source="MONDO:equivalentTo", source="Orphanet:137681"} xref: Orphanet:137681 {source="OMIM:609060", source="MONDO:equivalentTo"} xref: SCTID:764962002 {source="MONDO:equivalentTo"} xref: UMLS:C1836797 {source="OMIM:609060", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137681"} @@ -241370,7 +241278,7 @@ synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELAT synonym: "paca" RELATED [MONDO:Lexical, OMIM:609069] synonym: "pancreatic and cerebellar agenesis" EXACT [MONDO:Lexical, OMIM:609069, Orphanet:65288] xref: MESH:C563796 {source="MONDO:equivalentTo"} -xref: OMIM:609069 {source="MONDO:equivalentTo", source="ORDO:65288/e", source="Orphanet:65288"} +xref: OMIM:609069 {source="Orphanet:65288/e", source="MONDO:equivalentTo", source="Orphanet:65288"} xref: Orphanet:65288 {source="MONDO:equivalentTo", source="OMIM:609069"} xref: UMLS:C1836780 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609069", source="Orphanet:65288"} is_a: MONDO:0016391 {source="Orphanet:65288"} ! neonatal diabetes mellitus @@ -241396,9 +241304,9 @@ synonym: "muscular dystrophy limb-girdle type 1G" EXACT [DOID:0110306] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 3" EXACT [OMIM:609115, OMIM:genemap2] xref: DOID:0110306 {source="MONDO:equivalentTo"} xref: GARD:0012531 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:55596/attributed", source="ORDO:55596/ntbt", source="DOID:0110306", source="Orphanet:55596"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110306", source="Orphanet:55596/attributed", source="Orphanet:55596/ntbt", source="Orphanet:55596"} xref: MESH:C563794 {source="MONDO:equivalentTo"} -xref: OMIM:609115 {source="DOID:0110306", source="MONDO:equivalentTo", source="ORDO:55596/e", source="Orphanet:55596"} +xref: OMIM:609115 {source="DOID:0110306", source="Orphanet:55596/e", source="MONDO:equivalentTo", source="Orphanet:55596"} xref: Orphanet:55596 {source="DOID:0110306", source="MONDO:equivalentTo", source="OMIM:609115"} xref: SCTID:719990003 {source="MONDO:equivalentTo"} xref: UMLS:C1836765 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609115", source="Orphanet:55596"} @@ -241432,9 +241340,9 @@ synonym: "arthrogryposis, distal, type 4" RELATED [MONDO:Lexical, OMIM:609128] synonym: "DA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609128] synonym: "distal arthrogryposis type 4" EXACT [Orphanet:65720] synonym: "distal arthrogryposis type IID" EXACT [Orphanet:65720] -xref: ICD10CM:Q68.8 {source="Orphanet:65720", source="ORDO:65720/attributed", source="ORDO:65720/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:65720/attributed", source="Orphanet:65720/ntbt", source="Orphanet:65720"} xref: MESH:C563791 {source="MONDO:equivalentTo"} -xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source="ORDO:65720/e"} +xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source="Orphanet:65720/e"} xref: Orphanet:65720 {source="MONDO:equivalentTo", source="OMIM:609128"} xref: SCTID:715575001 {source="MONDO:equivalentTo"} xref: UMLS:C1836756 {source="Orphanet:65720", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609128"} @@ -241478,17 +241386,17 @@ synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230] synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88] synonym: "secondary aplastic anemia" RELATED [GARD:0005836] xref: GARD:0005836 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D61.0 {source="ORDO:88/e", source="MONDO:relatedTo", source="Orphanet:88"} +xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:88", source="Orphanet:88/e"} xref: ICD10CM:D61.3 {source="MONDO:equivalentTo"} -xref: MESH:C538494 {source="ORDO:88/e", source="Orphanet:88", source="MONDO:equivalentTo"} +xref: MESH:C538494 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"} xref: NCIT:C61230 {source="MONDO:equivalentTo"} -xref: OMIM:609135 {source="ORDO:88/e", source="Orphanet:88", source="MONDO:equivalentTo"} -xref: OMIM:614742 {source="MONDO:relatedTo", source="ORDO:88/ntbt"} -xref: OMIM:614743 {source="MONDO:relatedTo", source="ORDO:88/ntbt"} +xref: OMIM:609135 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"} +xref: OMIM:614742 {source="Orphanet:88/ntbt", source="MONDO:relatedTo"} +xref: OMIM:614743 {source="Orphanet:88/ntbt", source="MONDO:relatedTo"} xref: Orphanet:88 {source="MONDO:equivalentTo", source="OMIM:609135"} xref: SCTID:191256002 {source="MONDO:equivalentTo"} xref: UMLS:C0002874 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609135"} -xref: UMLS:C0348890 {source="ORDO:88/e", source="Orphanet:88", source="MONDO:equivalentTo", source="NCIT:C61230"} +xref: UMLS:C0348890 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e", source="NCIT:C61230"} xref: UMLS:C2684859 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:609135"} is_a: MONDO:0015610 {source="Orphanet:88"} ! acquired aplastic anemia relationship: has_modifier MONDO:0700005 ! idiopathic @@ -241507,9 +241415,9 @@ synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystro synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [OMIM:609136] synonym: "WS4 plus" EXACT [Orphanet:163746] xref: DOID:0090111 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="DOID:0090111", source="Orphanet:163746", source="ORDO:163746/attributed", source="ORDO:163746/ntbt"} +xref: ICD10CM:E75.2 {source="DOID:0090111", source="Orphanet:163746/attributed", source="Orphanet:163746/ntbt", source="Orphanet:163746"} xref: MESH:C563789 {source="MONDO:equivalentTo"} -xref: OMIM:609136 {source="DOID:0090111", source="MONDO:equivalentTo", source="Orphanet:163746", source="ORDO:163746/e"} +xref: OMIM:609136 {source="Orphanet:163746/e", source="DOID:0090111", source="MONDO:equivalentTo", source="Orphanet:163746"} xref: Orphanet:163746 {source="DOID:0090111", source="MONDO:equivalentTo", source="OMIM:609136"} xref: UMLS:C1836727 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163746", source="OMIM:609136"} xref: UMLS:CN239463 {source="MONDO:equivalentTo"} @@ -241607,9 +241515,9 @@ synonym: "Nonautoimmune hyperthyroidism" RELATED [GARD:0002858] synonym: "resistance to thyroid stimulating hormone" EXACT [Orphanet:424] synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [OMIM:609152] xref: GARD:0002858 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E05.8 {source="Orphanet:424", source="ORDO:424/attributed", source="ORDO:424/ntbt"} +xref: ICD10CM:E05.8 {source="Orphanet:424/attributed", source="Orphanet:424/ntbt", source="Orphanet:424"} xref: MESH:C563786 {source="MONDO:equivalentTo"} -xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="ORDO:424/e"} +xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="Orphanet:424/e"} xref: Orphanet:424 {source="MONDO:equivalentTo", source="OMIM:609152"} xref: UMLS:C1836706 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609152"} is_a: MONDO:0004425 {source="Orphanet:424"} ! hyperthyroidism @@ -241630,9 +241538,9 @@ synonym: "pseudohyperkalemia Falkirk" RELATED [OMIM:609153] synonym: "pseudohyperkalemia Lille" RELATED [OMIM:609153] synonym: "pseudohyperkalemia, familial, 2, due to red cell leak" EXACT [OMIM:609153] synonym: "PSHK2" EXACT ABBREVIATION [OMIM:609153] -xref: ICD10CM:D58.8 {source="Orphanet:90044", source="ORDO:90044/attributed", source="ORDO:90044/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:90044/attributed", source="Orphanet:90044/ntbt", source="Orphanet:90044"} xref: MESH:C563785 {source="MONDO:equivalentTo"} -xref: OMIM:609153 {source="ORDO:90044/e", source="Orphanet:90044", source="MONDO:equivalentTo"} +xref: OMIM:609153 {source="Orphanet:90044", source="MONDO:equivalentTo", source="Orphanet:90044/e"} xref: Orphanet:90044 {source="MONDO:equivalentTo", source="OMIM:609153"} xref: SCTID:717254007 {source="MONDO:equivalentTo"} xref: UMLS:C1836705 {source="Orphanet:90044", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609153"} @@ -241654,7 +241562,7 @@ synonym: "striatal degeneration, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "striatal Degeneration, autosomal dominant 1" EXACT [OMIM:609161] synonym: "striatal degeneration, autosomal dominant 1" EXACT [OMIM:609161] synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE8B" EXACT [MONDO:design_pattern] -xref: OMIM:609161 {source="MONDO:equivalentTo", source="ORDO:228169/e", source="Orphanet:228169"} +xref: OMIM:609161 {source="Orphanet:228169/e", source="MONDO:equivalentTo", source="Orphanet:228169"} xref: SCTID:725392005 {source="MONDO:equivalentTo"} xref: UMLS:C1836694 {source="OMIM:609161", source="Orphanet:228169"} xref: UMLS:C4310808 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -241678,12 +241586,12 @@ synonym: "pseudorheumatoid dysplasia progressive, with hypoplastic toes" RELATED synonym: "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" RELATED [OMIM:609162] synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" RELATED [OMIM:609162] xref: GARD:0010220 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:137678", source="ORDO:137678/attributed", source="ORDO:137678/ntbt"} -xref: MESH:C535766 {source="ORDO:137678/e", source="Orphanet:137678", source="MONDO:equivalentTo"} -xref: OMIM:609162 {source="ORDO:137678/e", source="Orphanet:137678", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.7 {source="Orphanet:137678/attributed", source="Orphanet:137678/ntbt", source="Orphanet:137678"} +xref: MESH:C535766 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"} +xref: OMIM:609162 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"} xref: Orphanet:137678 {source="OMIM:609162", source="MONDO:equivalentTo"} xref: SCTID:720826006 {source="MONDO:equivalentTo"} -xref: UMLS:C1836683 {source="ORDO:137678/e", source="OMIM:609162", source="NCBI:mim2gene_medline", source="Orphanet:137678", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1836683 {source="OMIM:609162", source="NCBI:mim2gene_medline", source="Orphanet:137678", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137678/e"} is_a: MONDO:0016761 {source="Orphanet:137678"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:137678"} ! type 2 collagenopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2200 {source="mim2gene_medgen"} ! COL2A1 @@ -241717,7 +241625,7 @@ synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190] synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190] synonym: "IWC" EXACT ABBREVIATION [Orphanet:281190] xref: MESH:C563781 {source="MONDO:equivalentTo"} -xref: OMIM:609165 {source="MONDO:equivalentTo", source="Orphanet:281190", source="ORDO:281190/e"} +xref: OMIM:609165 {source="Orphanet:281190/e", source="MONDO:equivalentTo", source="Orphanet:281190"} xref: Orphanet:281190 {source="MONDO:equivalentTo", source="OMIM:609165"} xref: SCTID:703504006 {source="MONDO:equivalentTo"} xref: UMLS:C1836681 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609165"} @@ -241736,9 +241644,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:50815"} synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [OMIM:609166] synonym: "MC)garbanC)-Loiselet syndrome" EXACT [Orphanet:50815] synonym: "Mégarbané-Loiselet syndrome" EXACT [Orphanet:50815] -xref: ICD10CM:Q87.0 {source="ORDO:50815/attributed", source="ORDO:50815/ntbt", source="Orphanet:50815"} +xref: ICD10CM:Q87.0 {source="Orphanet:50815/attributed", source="Orphanet:50815/ntbt", source="Orphanet:50815"} xref: MESH:C563780 {source="MONDO:equivalentTo"} -xref: OMIM:609166 {source="MONDO:equivalentTo", source="ORDO:50815/e", source="Orphanet:50815"} +xref: OMIM:609166 {source="Orphanet:50815/e", source="MONDO:equivalentTo", source="Orphanet:50815"} xref: Orphanet:50815 {source="MONDO:equivalentTo", source="OMIM:609166"} xref: SCTID:717944002 {source="MONDO:equivalentTo"} xref: UMLS:C1836673 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609166", source="Orphanet:50815"} @@ -241780,10 +241688,10 @@ synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical, synonym: "MPDU1-CDG (CDG-If)" RELATED [GARD:0009832] xref: DOID:0080558 {source="MONDO:equivalentTo"} xref: GARD:0009832 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:79323/attributed", source="ORDO:79323/ntbt", source="Orphanet:79323"} +xref: ICD10CM:E77.8 {source="Orphanet:79323/attributed", source="Orphanet:79323/ntbt", source="Orphanet:79323"} xref: MESH:C535744 {source="MONDO:equivalentTo"} xref: NCIT:C126872 {source="MONDO:equivalentTo"} -xref: OMIM:609180 {source="MONDO:equivalentTo", source="ORDO:79323/e", source="Orphanet:79323"} +xref: OMIM:609180 {source="Orphanet:79323/e", source="MONDO:equivalentTo", source="Orphanet:79323"} xref: Orphanet:79323 {source="OMIM:609180", source="MONDO:equivalentTo"} xref: SCTID:724096007 {source="MONDO:equivalentTo"} xref: UMLS:C1836669 {source="OMIM:609180", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126872", source="Orphanet:79323"} @@ -241840,12 +241748,12 @@ synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG26" EXACT ABBREVIATION [DOID:0110777, MONDO:Lexical, OMIM:609195, Orphanet:101006] xref: DOID:0110777 {source="MONDO:equivalentTo"} xref: GARD:0009587 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110777", source="ORDO:101006/attributed", source="ORDO:101006/ntbt", source="Orphanet:101006"} -xref: MESH:C536862 {source="ORDO:101006/e", source="MONDO:equivalentTo", source="Orphanet:101006"} -xref: OMIM:609195 {source="DOID:0110777", source="ORDO:101006/e", source="MONDO:equivalentTo", source="Orphanet:101006"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110777", source="Orphanet:101006", source="Orphanet:101006/attributed", source="Orphanet:101006/ntbt"} +xref: MESH:C536862 {source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} +xref: OMIM:609195 {source="DOID:0110777", source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} xref: Orphanet:101006 {source="DOID:0110777", source="OMIM:609195", source="MONDO:equivalentTo"} xref: SCTID:726607007 {source="MONDO:equivalentTo"} -xref: UMLS:C1836632 {source="OMIM:609195", source="ORDO:101006/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101006"} +xref: UMLS:C1836632 {source="OMIM:609195", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"} xref: UMLS:C4511959 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101006"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110777", source="MESH:C536862", source="MONDO:Redundant", source="OMIM:609195", source="Orphanet:101006/inferred"} ! hereditary spastic paraplegia @@ -241862,7 +241770,7 @@ synonym: "glucocorticoid deficiency 3" EXACT [MONDO:Lexical, OMIM:609197] xref: OMIM:609197 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="MONDO:subClassOf", source="OMIM:609197"} xref: UMLS:C1836621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609197"} -is_a: MONDO:0008733 {source="OMIM:609197", source="ORDO:361/btnt"} ! familial glucocorticoid deficiency +is_a: MONDO:0008733 {source="OMIM:609197", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency property_value: confidence "0.9297058823529412" xsd:double [Term] @@ -241894,12 +241802,12 @@ synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300] xref: DOID:0080094 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110300 {source="MONDO:equivalentTo"} xref: GARD:0010229 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:266/ntbt", source="ORDO:266/inclusion", source="DOID:0110300", source="Orphanet:266"} -xref: ICD10CM:G71.8 {source="Orphanet:98911", source="ORDO:98911/attributed", source="ORDO:98911/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:266/ntbt", source="Orphanet:266/inclusion", source="DOID:0110300", source="Orphanet:266"} +xref: ICD10CM:G71.8 {source="Orphanet:98911", source="Orphanet:98911/attributed", source="Orphanet:98911/ntbt"} xref: MESH:C535906 {source="MONDO:equivalentTo"} xref: MESH:C563775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:159000 {source="MONDO:equivalentTo", source="GARD:0010229", source="ORDO:266/e", source="DOID:0110300", source="Orphanet:266"} -xref: OMIM:609200 {source="ORDO:98911/e", source="MONDO:equivalentTo", source="Orphanet:98911", source="MONDO:preferredExternal", source="DOID:0080094"} +xref: OMIM:159000 {source="Orphanet:266/e", source="MONDO:equivalentTo", source="GARD:0010229", source="DOID:0110300", source="Orphanet:266"} +xref: OMIM:609200 {source="MONDO:equivalentTo", source="Orphanet:98911", source="MONDO:preferredExternal", source="Orphanet:98911/e", source="DOID:0080094"} xref: Orphanet:266 {source="OMIM:159000", source="MONDO:equivalentTo", source="GARD:0010229", source="DOID:0110300"} xref: Orphanet:98911 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:609200"} xref: SCTID:719985001 {source="MONDO:equivalentTo"} @@ -241930,9 +241838,9 @@ synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or ante synonym: "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [OMIM:609218, OMIM:genemap2] synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1, OMIM:609218] synonym: "FVH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609218] -xref: ICD10CM:Q15.8 {source="ORDO:397618/attributed", source="ORDO:397618/ntbt", source="Orphanet:397618"} +xref: ICD10CM:Q15.8 {source="Orphanet:397618/attributed", source="Orphanet:397618/ntbt", source="Orphanet:397618"} xref: MESH:C563774 {source="MONDO:equivalentTo"} -xref: OMIM:609218 {source="MONDO:equivalentTo", source="ORDO:397618/e", source="Orphanet:397618"} +xref: OMIM:609218 {source="Orphanet:397618/e", source="MONDO:equivalentTo", source="Orphanet:397618"} xref: Orphanet:397618 {source="OMIM:609218", source="MONDO:equivalentTo"} xref: UMLS:C1836603 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3807873 {source="OMIM:609218", source="MONDO:notFoundInDiseaseSubset"} @@ -241999,12 +241907,12 @@ synonym: "GS3" EXACT ABBREVIATION [DOID:0060834, MONDO:Lexical, OMIM:609227] synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATED [GARD:0009715] xref: DOID:0060834 {source="MONDO:equivalentTo"} xref: GARD:0009715 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060834", source="ORDO:79478/attributed", source="ORDO:79478/ntbt", source="Orphanet:79478"} -xref: MESH:C537303 {source="MONDO:equivalentTo", source="DOID:0060834", source="ORDO:79478/e", source="Orphanet:79478"} -xref: OMIM:609227 {source="MONDO:equivalentTo", source="DOID:0060834", source="ORDO:79478/e", source="Orphanet:79478"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79478/attributed", source="Orphanet:79478/ntbt", source="DOID:0060834", source="Orphanet:79478"} +xref: MESH:C537303 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} +xref: OMIM:609227 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} xref: Orphanet:381 {source="MONDO:subClassOf", source="OMIM:609227"} xref: Orphanet:79478 {source="MONDO:equivalentTo", source="DOID:0060834", source="OMIM:609227"} -xref: UMLS:C1836573 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060834", source="ORDO:79478/e", source="OMIM:609227", source="Orphanet:79478"} +xref: UMLS:C1836573 {source="Orphanet:79478/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060834", source="OMIM:609227", source="Orphanet:79478"} is_a: MONDO:0018306 {source="DC-OMIM:609227", source="DOID:0060834", source="MONDO:Redundant", source="OMIM:609227", source="Orphanet:79478"} ! Griscelli syndrome intersection_of: MONDO:0018306 ! Griscelli syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29643 ! MLPH @@ -242034,8 +241942,8 @@ synonym: "Schindler disease, type I" RELATED [OMIM:609241] synonym: "Schindler disease, type III" EXACT [OMIM:609241, OMIM:genemap2] xref: GARD:0000116 {source="MONDO:equivalentTo"} xref: GARD:0003903 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.1 {source="ORDO:79279/attributed", source="ORDO:79279/ntbt", source="Orphanet:79279"} -xref: OMIM:609241 {source="GARD:0000116", source="MONDO:equivalentTo", source="ORDO:79279/e", source="GARD:0003903", source="Orphanet:79279"} +xref: ICD10CM:E77.1 {source="Orphanet:79279/attributed", source="Orphanet:79279/ntbt", source="Orphanet:79279"} +xref: OMIM:609241 {source="Orphanet:79279/e", source="GARD:0000116", source="MONDO:equivalentTo", source="GARD:0003903", source="Orphanet:79279"} xref: Orphanet:3137 {source="MONDO:subClassOf", source="OMIM:609241"} xref: Orphanet:79279 {source="GARD:0000116", source="MONDO:equivalentTo", source="OMIM:609241"} xref: Orphanet:79281 {source="OMIM:609241", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} @@ -242062,8 +241970,8 @@ synonym: "Naga deficiency, type 2" RELATED [OMIM:609242] synonym: "Schindler disease type 2" EXACT [Orphanet:79280] synonym: "Schindler disease, type 2" RELATED [OMIM:609242] xref: GARD:0009161 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.1 {source="Orphanet:79280", source="ORDO:79280/attributed", source="ORDO:79280/ntbt"} -xref: OMIM:609242 {source="ORDO:79280/e", source="Orphanet:79280", source="MONDO:equivalentTo"} +xref: ICD10CM:E77.1 {source="Orphanet:79280/attributed", source="Orphanet:79280/ntbt", source="Orphanet:79280"} +xref: OMIM:609242 {source="Orphanet:79280", source="MONDO:equivalentTo", source="Orphanet:79280/e"} xref: Orphanet:3137 {source="MONDO:subClassOf", source="OMIM:609242"} xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"} xref: UMLS:C1836522 {source="NCBI:mim2gene_medline", source="Orphanet:79280", source="MONDO:equivalentTo", source="OMIM:609242"} @@ -242197,10 +242105,10 @@ synonym: "HMSN IIa2" RELATED [OMIM:609260] synonym: "HMSN2A2" EXACT ABBREVIATION [DOID:0110155] synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110155 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:99947/attributed", source="ORDO:99947/ntbt", source="Orphanet:99947", source="DOID:0110155"} +xref: ICD10CM:G60.0 {source="Orphanet:99947", source="Orphanet:99947/attributed", source="Orphanet:99947/ntbt", source="DOID:0110155"} xref: MESH:C563757 {source="MONDO:equivalentTo"} xref: NCIT:C150646 {source="MONDO:equivalentTo"} -xref: OMIM:609260 {source="ORDO:99947/e", source="MONDO:equivalentTo", source="Orphanet:99947", source="DOID:0110155"} +xref: OMIM:609260 {source="MONDO:equivalentTo", source="Orphanet:99947", source="DOID:0110155", source="Orphanet:99947/e"} xref: Orphanet:99947 {source="OMIM:609260", source="MONDO:equivalentTo", source="DOID:0110155"} xref: SCTID:764850002 {source="MONDO:equivalentTo"} xref: UMLS:C1836485 {source="NCBI:mim2gene_medline", source="OMIM:609260", source="MONDO:equivalentTo", source="Orphanet:99947"} @@ -242266,9 +242174,9 @@ synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical, synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:609270] xref: DOID:0080059 {source="MONDO:equivalentTo"} xref: GARD:0012232 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:284324/attributed", source="ORDO:284324/ntbt", source="Orphanet:284324"} +xref: ICD10CM:G11.1 {source="Orphanet:284324", source="Orphanet:284324/attributed", source="Orphanet:284324/ntbt"} xref: MESH:C563753 {source="MONDO:equivalentTo"} -xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="ORDO:284324/e"} +xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="Orphanet:284324/e"} xref: Orphanet:284324 {source="OMIM:609270", source="MONDO:equivalentTo"} xref: UMLS:C1836474 {source="OMIM:609270", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:284324"} is_a: MONDO:0015244 {source="DOID:0080059", source="Orphanet:284324"} ! autosomal recessive cerebellar ataxia @@ -242301,7 +242209,7 @@ xref: MESH:C538398 {source="MONDO:equivalentTo"} xref: OMIM:609273 {source="MONDO:equivalentTo", source="DOID:0110935"} xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:609273"} xref: UMLS:C1836472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609273"} -is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy +is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110935", source="MESH:C538398", source="MONDO:Redundant", source="OMIM:609273", source="indirect"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37227 ! KBTBD13 @@ -242324,7 +242232,7 @@ xref: OMIM:609283 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:subClassOf", source="OMIM:609283"} xref: UMLS:C1836460 {source="OMIM:609283", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="MONDO:0012238/inferred", source="MONDO:Redundant", source="OMIM:609283", source="indirect"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0008003 {source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia +is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10990 ! SLC25A4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10990 {source="mim2gene_medgen"} ! SLC25A4 @@ -242349,8 +242257,8 @@ xref: Orphanet:171881 {source="MONDO:relatedTo", source="MONDO:superClassOf", so xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:609284"} xref: UMLS:C1836448 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609284"} xref: UMLS:C3714994 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:609284"} -is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy -is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy +is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy +is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110926", source="MESH:C538348", source="MONDO:Redundant", source="OMIM:609284", source="indirect"} ! nemaline myopathy is_a: MONDO:0100108 {comment="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy intersection_of: MONDO:0018958 ! nemaline myopathy @@ -242376,8 +242284,8 @@ xref: Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609285", source="M xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:609285"} xref: UMLS:C1836447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609285"} xref: UMLS:C3807907 {source="OMIM:609285", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy -is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy +is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy +is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110932", source="MESH:C538351", source="MONDO:Redundant", source="OMIM:609285", source="indirect"} ! nemaline myopathy is_a: MONDO:0100196 {source="https://clinicalgenome.org/affiliation/40031/"} ! TPM2-related myopathy intersection_of: MONDO:0018958 ! nemaline myopathy @@ -242401,7 +242309,7 @@ xref: OMIM:609286 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:subClassOf", source="OMIM:609286"} xref: UMLS:C1836439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609286"} is_a: MONDO:0000090 {source="MONDO:0012241/inferred", source="MONDO:Redundant", source="OMIM:609286", source="indirect"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0008003 {source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia +is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1160 ! TWNK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1160 {source="mim2gene_medgen"} ! TWNK @@ -242462,7 +242370,7 @@ xref: DOID:0080440 {source="MONDO:equivalentTo"} xref: OMIM:609304 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="MONDO:subClassOf", source="OMIM:609304"} xref: UMLS:C0270855 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:609304"} -is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy +is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:609304", source="MONDO:Redundant", source="OMIM:609304"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19954 ! SLC25A22 @@ -242480,12 +242388,12 @@ synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical, OMIM:609306] synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306] xref: DOID:0050975 {source="MONDO:equivalentTo"} xref: GARD:0009995 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:101112", source="ORDO:101112/attributed", source="ORDO:101112/ntbt"} -xref: MESH:C537203 {source="ORDO:101112/e", source="Orphanet:101112", source="MONDO:equivalentTo"} -xref: OMIM:609306 {source="ORDO:101112/e", source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.2 {source="Orphanet:101112/attributed", source="Orphanet:101112/ntbt", source="Orphanet:101112"} +xref: MESH:C537203 {source="Orphanet:101112", source="MONDO:equivalentTo", source="Orphanet:101112/e"} +xref: OMIM:609306 {source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo", source="Orphanet:101112/e"} xref: Orphanet:101112 {source="OMIM:609306", source="MONDO:equivalentTo"} xref: SCTID:718769009 {source="MONDO:equivalentTo"} -xref: UMLS:C1836395 {source="OMIM:609306", source="ORDO:101112/e", source="Orphanet:101112", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1836395 {source="OMIM:609306", source="Orphanet:101112", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101112/e"} is_a: MONDO:0019793 {source="Orphanet:101112"} ! autosomal dominant cerebellar ataxia type III relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3214 {source="mim2gene_medgen"} ! EEF2 property_value: confidence "14.833333333333332" xsd:double @@ -242502,12 +242410,12 @@ synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical, OMIM:609307] synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307] xref: DOID:0050976 {source="MONDO:equivalentTo"} xref: GARD:0009963 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:98764", source="ORDO:98764/attributed", source="ORDO:98764/ntbt"} -xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="ORDO:98764/e"} -xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentTo", source="DOID:0050976", source="ORDO:98764/e"} +xref: ICD10CM:G11.8 {source="Orphanet:98764/attributed", source="Orphanet:98764/ntbt", source="Orphanet:98764"} +xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="Orphanet:98764/e"} +xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentTo", source="DOID:0050976", source="Orphanet:98764/e"} xref: Orphanet:98764 {source="OMIM:609307", source="MONDO:equivalentTo"} xref: SCTID:719252002 {source="MONDO:equivalentTo"} -xref: UMLS:C1836383 {source="OMIM:609307", source="Orphanet:98764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:98764/e"} +xref: UMLS:C1836383 {source="OMIM:609307", source="Orphanet:98764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98764/e"} xref: UMLS:C4304846 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:98764"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3671 {source="mim2gene_medgen"} ! FGF14 @@ -242534,9 +242442,9 @@ synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO xref: DOID:0110297 {source="MONDO:equivalentTo"} xref: EFO:0009145 {source="MONDO:equivalentTo"} xref: GARD:0012535 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:86812/ntbt", source="Orphanet:86812", source="DOID:0110297", source="ORDO:86812/inclusion"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:86812/inclusion", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/ntbt"} xref: NCIT:C133730 {source="MONDO:equivalentTo"} -xref: OMIM:609308 {source="ORDO:86812/e", source="MONDO:equivalentTo", source="Orphanet:86812", source="DOID:0110297"} +xref: OMIM:609308 {source="MONDO:equivalentTo", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/e"} xref: Orphanet:86812 {source="OMIM:609308", source="MONDO:equivalentTo", source="DOID:0110297"} xref: SCTID:720523006 {source="MONDO:equivalentTo"} xref: UMLS:C1836373 {source="OMIM:609308", source="NCBI:mim2gene_medline", source="Orphanet:86812", source="MONDO:notFoundInDiseaseSubset"} @@ -242597,9 +242505,9 @@ synonym: "CMT4H" EXACT ABBREVIATION [DOID:0110192, MONDO:Lexical, OMIM:609311, O synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110192 {source="MONDO:equivalentTo"} xref: GARD:0012442 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110192", source="Orphanet:99954", source="ORDO:99954/attributed", source="ORDO:99954/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:99954/attributed", source="Orphanet:99954/ntbt", source="DOID:0110192", source="Orphanet:99954"} xref: MESH:C563740 {source="MONDO:equivalentTo"} -xref: OMIM:609311 {source="ORDO:99954/e", source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo"} +xref: OMIM:609311 {source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo", source="Orphanet:99954/e"} xref: Orphanet:99954 {source="DOID:0110192", source="MONDO:equivalentTo", source="OMIM:609311"} xref: SCTID:715802008 {source="MONDO:equivalentTo"} xref: UMLS:C1836336 {source="NCBI:mim2gene_medline", source="Orphanet:99954", source="MONDO:equivalentTo", source="OMIM:609311"} @@ -242626,7 +242534,7 @@ synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, ker synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] xref: DOID:0060483 {source="MONDO:equivalentTo"} xref: MESH:C563739 {source="MONDO:equivalentTo"} -xref: OMIM:609313 {source="DOID:0060483", source="MONDO:equivalentTo", source="Orphanet:171851", source="ORDO:171851/e"} +xref: OMIM:609313 {source="Orphanet:171851/e", source="DOID:0060483", source="MONDO:equivalentTo", source="Orphanet:171851"} xref: Orphanet:171851 {source="DOID:0060483", source="MONDO:equivalentTo", source="OMIM:609313"} xref: SCTID:722035007 {source="MONDO:equivalentTo"} xref: UMLS:C1836330 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171851", source="OMIM:609313"} @@ -242663,7 +242571,7 @@ xref: UMLS:C1266184 {source="MONDO:relatedTo", source="OMIM:609322"} xref: UMLS:C1836326 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:609322"} xref: UMLS:C1836327 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609322"} xref: UMLS:C2750405 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:609322"} -is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:609322", source="ORDO:231108/btnt"} ! familial rhabdoid tumor +is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:609322", source="Orphanet:231108/btnt"} ! familial rhabdoid tumor intersection_of: MONDO:0016473 ! familial rhabdoid tumor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11103 ! SMARCB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11103 {source="mim2gene_medgen"} ! SMARCB1 @@ -242676,9 +242584,9 @@ name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia def: "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." [Orphanet:166029] subset: ordo_disease {source="Orphanet:166029"} synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [OMIM:609324] -xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="ORDO:166029/attributed", source="ORDO:166029/ntbt", source="Orphanet:166029"} +xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:166029", source="Orphanet:166029/attributed", source="Orphanet:166029/ntbt"} xref: MESH:C563736 {source="MONDO:equivalentTo"} -xref: OMIM:609324 {source="MONDO:equivalentTo", source="ORDO:166029/e", source="Orphanet:166029"} +xref: OMIM:609324 {source="MONDO:equivalentTo", source="Orphanet:166029", source="Orphanet:166029/e"} xref: Orphanet:166029 {source="MONDO:equivalentTo", source="OMIM:609324"} xref: UMLS:C1836315 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166029", source="OMIM:609324"} is_a: MONDO:0016648 {source="Orphanet:166029"} ! multiple epiphyseal dysplasia @@ -242690,9 +242598,9 @@ name: multiple epiphyseal dysplasia, with miniepiphyses def: "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." [Orphanet:166032] subset: ordo_disease {source="Orphanet:166032"} synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [OMIM:609325] -xref: ICD10CM:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="ORDO:166032/attributed", source="ORDO:166032/ntbt"} +xref: ICD10CM:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="Orphanet:166032/attributed", source="Orphanet:166032/ntbt"} xref: MESH:C563735 {source="MONDO:equivalentTo"} -xref: OMIM:609325 {source="Orphanet:166032", source="MONDO:equivalentTo", source="ORDO:166032/e"} +xref: OMIM:609325 {source="Orphanet:166032", source="MONDO:equivalentTo", source="Orphanet:166032/e"} xref: Orphanet:166032 {source="MONDO:equivalentTo", source="OMIM:609325"} xref: UMLS:C1836307 {source="Orphanet:166032", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609325"} is_a: MONDO:0016648 {source="Orphanet:166032"} ! multiple epiphyseal dysplasia @@ -242723,9 +242631,9 @@ synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE: synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340] synonym: "SPG28" EXACT ABBREVIATION [DOID:0110779, MONDO:Lexical, OMIM:609340, Orphanet:101008] xref: DOID:0110779 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110779", source="ORDO:101008/attributed", source="ORDO:101008/ntbt", source="Orphanet:101008"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110779", source="Orphanet:101008", source="Orphanet:101008/attributed", source="Orphanet:101008/ntbt"} xref: MESH:C563732 {source="MONDO:equivalentTo"} -xref: OMIM:609340 {source="DOID:0110779", source="MONDO:equivalentTo", source="ORDO:101008/e", source="Orphanet:101008"} +xref: OMIM:609340 {source="DOID:0110779", source="MONDO:equivalentTo", source="Orphanet:101008", source="Orphanet:101008/e"} xref: Orphanet:101008 {source="DOID:0110779", source="MONDO:equivalentTo", source="OMIM:609340"} xref: SCTID:763376002 {source="MONDO:equivalentTo"} xref: UMLS:C1836295 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609340", source="Orphanet:101008"} @@ -242741,9 +242649,9 @@ id: MONDO:0012257 name: Cerebrorenodigital syndrome subset: ordo_malformation_syndrome {source="Orphanet:1396"} synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [OMIM:609345] -xref: ICD10CM:Q87.8 {source="Orphanet:1396", source="ORDO:1396/attributed", source="ORDO:1396/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1396", source="Orphanet:1396/attributed", source="Orphanet:1396/ntbt"} xref: MESH:C563731 {source="MONDO:equivalentTo"} -xref: OMIM:609345 {source="Orphanet:1396", source="ORDO:1396/e", source="MONDO:equivalentTo"} +xref: OMIM:609345 {source="Orphanet:1396", source="MONDO:equivalentTo", source="Orphanet:1396/e"} xref: Orphanet:1396 {source="MONDO:equivalentTo", source="OMIM:609345"} xref: UMLS:C1836287 {source="Orphanet:1396", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609345"} is_a: MONDO:0019721 {source="Orphanet:1396"} ! syndromic renal or urinary tract malformation @@ -242758,9 +242666,9 @@ subset: ordo_disease {source="Orphanet:158681"} synonym: "EBS-migr" EXACT [Orphanet:158681] synonym: "epidermolysis bullosa simplex 2E, with migratory circinate erythema" EXACT [OMIM:609352, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT [OMIM:609352] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158681", source="ORDO:158681/attributed", source="ORDO:158681/ntbt"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158681/attributed", source="Orphanet:158681/ntbt", source="Orphanet:158681"} xref: MESH:C563730 {source="MONDO:equivalentTo"} -xref: OMIM:609352 {source="MONDO:equivalentTo", source="Orphanet:158681", source="ORDO:158681/e"} +xref: OMIM:609352 {source="Orphanet:158681/e", source="MONDO:equivalentTo", source="Orphanet:158681"} xref: Orphanet:158681 {source="MONDO:equivalentTo", source="OMIM:609352"} xref: SCTID:716700003 {source="MONDO:equivalentTo"} xref: UMLS:C1836284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609352", source="Orphanet:158681"} @@ -242802,10 +242710,10 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:609376"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:609376"} xref: UMLS:C1836272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609376"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110261", source="MESH:C563728", source="MONDO:Redundant", source="OMIM:609376", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract -is_a: MONDO:0020379 {source="MONDO:Redundant", source="ORDO:98995/btnt", source="indirect"} ! early-onset zonular cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020376 {source="Orphanet:98991/btnt"} ! early-onset nuclear cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract +is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt", source="indirect"} ! early-onset zonular cataract property_value: confidence "3.3019579861886594" xsd:double [Term] @@ -242832,7 +242740,7 @@ xref: MESH:C567666 {source="MONDO:equivalentTo"} xref: OMIM:609384 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:609384"} xref: UMLS:C2750404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609384"} -is_a: MONDO:0007614 {source="OMIM:609384", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="OMIM:609384", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "0.19471518930725118" xsd:double @@ -242954,9 +242862,9 @@ synonym: "monosomy 3q29" EXACT [Orphanet:65286] synonym: "monosomy 3qter" EXACT [Orphanet:65286] xref: DOID:0060419 {source="MONDO:equivalentTo"} xref: GARD:0011974 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:65286/attributed", source="ORDO:65286/ntbt", source="Orphanet:65286"} +xref: ICD10CM:Q93.5 {source="Orphanet:65286/attributed", source="Orphanet:65286/ntbt", source="Orphanet:65286"} xref: MESH:C567184 {source="MONDO:equivalentTo", source="DOID:0060419"} -xref: OMIM:609425 {source="MONDO:equivalentTo", source="ORDO:65286/e", source="DOID:0060419", source="Orphanet:65286"} +xref: OMIM:609425 {source="Orphanet:65286/e", source="MONDO:equivalentTo", source="DOID:0060419", source="Orphanet:65286"} xref: Orphanet:65286 {source="MONDO:equivalentTo", source="DOID:0060419", source="OMIM:609425"} xref: SCTID:716456000 {source="MONDO:equivalentTo"} xref: UMLS:C2674949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:65286", source="OMIM:609425"} @@ -242980,7 +242888,7 @@ xref: GARD:0009814 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:609428 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:609428"} xref: UMLS:C1836217 {source="OMIM:609428", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007614 {source="OMIM:609428", source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="OMIM:609428", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles [Term] id: MONDO:0012271 @@ -242995,10 +242903,10 @@ synonym: "syndactyly, Malik-Percin type" EXACT [OMIM:609432, Orphanet:157801] synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical, OMIM:609432] synonym: "syndactyly, type 9" RELATED [OMIM:609432] xref: GARD:0010590 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q70.0 {source="ORDO:157801/attributed", source="ORDO:157801/ntbt", source="Orphanet:157801"} -xref: ICD10CM:Q70.2 {source="ORDO:157801/attributed", source="ORDO:157801/ntbt", source="Orphanet:157801"} +xref: ICD10CM:Q70.0 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"} +xref: ICD10CM:Q70.2 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"} xref: MESH:C563721 {source="MONDO:equivalentTo"} -xref: OMIM:609432 {source="MONDO:equivalentTo", source="ORDO:157801/e", source="Orphanet:157801"} +xref: OMIM:609432 {source="MONDO:equivalentTo", source="Orphanet:157801", source="Orphanet:157801/e"} xref: Orphanet:157801 {source="MONDO:equivalentTo", source="OMIM:609432"} xref: SCTID:724170007 {source="MONDO:equivalentTo"} xref: UMLS:C1836206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157801", source="OMIM:609432"} @@ -243028,8 +242936,7 @@ synonym: "autosomal recessive nonsyndromic deafness 48" NARROW CLINGEN_PREFERRED synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CIB2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 48" NARROW [DOID:0110505, MONDORULE:2] synonym: "CIB2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 48" NARROW [OMIM:609439, OMIM:genemap2] -synonym: "deafness, autosomal recessive 48" NARROW [MONDO:Lexical, OMIM:609439] +synonym: "deafness, autosomal recessive 48" NARROW [MONDO:Lexical, OMIM:609439, OMIM:genemap2] synonym: "deafness, autosomal recessive type 48" NARROW [MONDORULE:2, OMIM:609439] synonym: "DFNB48" NARROW ABBREVIATION [DOID:0110505, MONDO:Lexical, OMIM:609439] xref: DOID:0110505 {source="MONDO:equivalentTo"} @@ -243079,16 +242986,16 @@ synonym: "valproate embryopathy, susceptibility to" RELATED [OMIM:609442] synonym: "valproic acid embryopathy" RELATED [GARD:0005447] xref: DOID:0060471 {source="MONDO:equivalentTo"} xref: GARD:0005447 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="Orphanet:1906", source="ORDO:1906/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:1906", source="Orphanet:1906/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10016524 {source="Orphanet:1906", source="ORDO:1906/e"} -xref: MESH:C536525 {source="Orphanet:1906", source="MONDO:equivalentTo", source="DOID:0060471", source="ORDO:1906/e"} +xref: MedDRA:10016524 {source="Orphanet:1906", source="Orphanet:1906/e"} +xref: MESH:C536525 {source="Orphanet:1906", source="MONDO:equivalentTo", source="Orphanet:1906/e", source="DOID:0060471"} xref: NCIT:C98930 {source="MONDO:equivalentTo", source="DOID:0060471"} -xref: OMIM:609442 {source="Orphanet:1906", source="MONDO:equivalentTo", source="DOID:0060471", source="ORDO:1906/e"} +xref: OMIM:609442 {source="Orphanet:1906", source="MONDO:equivalentTo", source="Orphanet:1906/e", source="DOID:0060471"} xref: Orphanet:1906 {source="MONDO:equivalentTo", source="OMIM:609442", source="DOID:0060471"} xref: SCTID:17231009 {source="MONDO:equivalentTo", source="DOID:0060471"} xref: SCTID:205792006 {source="DOID:0060471"} -xref: UMLS:C0236026 {source="Orphanet:1906", source="MONDO:equivalentTo", source="NCIT:C98930", source="DOID:0060471", source="ORDO:1906/e"} +xref: UMLS:C0236026 {source="Orphanet:1906", source="MONDO:equivalentTo", source="Orphanet:1906/e", source="NCIT:C98930", source="DOID:0060471"} xref: UMLS:C1876218 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609442"} is_a: MONDO:0002254 {source="DOID:0060471", source="NCIT:C98930"} ! syndromic disease is_a: MONDO:0015323 {source="Orphanet:1906"} ! teratogenic Pierre Robin syndrome @@ -243106,9 +243013,9 @@ synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609446, Orphanet:79137] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446] synonym: "PNKD3" RELATED ABBREVIATION [OMIM:609446] -xref: ICD10CM:G40.3 {source="ORDO:79137/attributed", source="ORDO:79137/ntbt", source="Orphanet:79137"} +xref: ICD10CM:G40.3 {source="Orphanet:79137/attributed", source="Orphanet:79137/ntbt", source="Orphanet:79137"} xref: MESH:C563719 {source="MONDO:equivalentTo"} -xref: OMIM:609446 {source="MONDO:equivalentTo", source="ORDO:79137/e", source="Orphanet:79137"} +xref: OMIM:609446 {source="Orphanet:79137/e", source="MONDO:equivalentTo", source="Orphanet:79137"} xref: Orphanet:79137 {source="MONDO:equivalentTo", source="OMIM:609446"} xref: UMLS:C1836173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79137", source="OMIM:609446"} is_a: MONDO:0017704 {source="Orphanet:79137"} ! familial partial epilepsy @@ -243131,9 +243038,9 @@ synonym: "ZASP-related myofibrillar myopathy" EXACT [Orphanet:98912] synonym: "zaspopathy" EXACT [DOID:0080095] xref: DOID:0080095 {source="MONDO:equivalentTo"} xref: GARD:0001886 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.8 {source="ORDO:98912/attributed", source="ORDO:98912/ntbt", source="Orphanet:98912"} +xref: ICD10CM:G71.8 {source="Orphanet:98912", source="Orphanet:98912/attributed", source="Orphanet:98912/ntbt"} xref: MESH:C563718 {source="MONDO:equivalentTo"} -xref: OMIM:609452 {source="ORDO:98912/e", source="MONDO:equivalentTo", source="Orphanet:98912", source="DOID:0080095"} +xref: OMIM:609452 {source="MONDO:equivalentTo", source="Orphanet:98912", source="Orphanet:98912/e", source="DOID:0080095"} xref: Orphanet:98912 {source="MONDO:equivalentTo", source="OMIM:609452"} xref: UMLS:C1836155 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:98912", source="OMIM:609452"} is_a: MONDO:0005336 {source="DOID:0080095", source="MONDO:Redundant", source="indirect"} ! myopathy @@ -243155,7 +243062,7 @@ xref: OMIM:609454 {source="MONDO:equivalentTo"} xref: Orphanet:240071 {source="MONDO:subClassOf", source="OMIM:609454"} xref: Orphanet:683 {source="MONDO:subClassOf", source="OMIM:609454"} xref: UMLS:C1836148 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609454"} -is_a: MONDO:0019037 {source="OMIM:609454", source="ORDO:240071/btnt"} ! progressive supranuclear palsy +is_a: MONDO:0019037 {source="OMIM:609454", source="Orphanet:240071/btnt"} ! progressive supranuclear palsy property_value: confidence "2.3412500000000014" xsd:double [Term] @@ -243183,12 +243090,12 @@ synonym: "GOSHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609460, Orphanet:66629] synonym: "megacolon-microcephaly syndrome" EXACT [Orphanet:66629] xref: DOID:0060481 {source="MONDO:equivalentTo"} xref: GARD:0009849 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:66629/attributed", source="ORDO:66629/ntbt", source="Orphanet:66629"} -xref: MESH:C537279 {source="MONDO:equivalentTo", source="ORDO:66629/e", source="Orphanet:66629", source="DOID:0060481"} -xref: OMIM:609460 {source="MONDO:equivalentTo", source="ORDO:66629/e", source="Orphanet:66629", source="DOID:0060481"} +xref: ICD10CM:Q87.8 {source="Orphanet:66629", source="Orphanet:66629/attributed", source="Orphanet:66629/ntbt"} +xref: MESH:C537279 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} +xref: OMIM:609460 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} xref: Orphanet:66629 {source="MONDO:equivalentTo", source="OMIM:609460", source="DOID:0060481"} xref: SCTID:717822006 {source="MONDO:equivalentTo"} -xref: UMLS:C1836123 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609460", source="ORDO:66629/e", source="Orphanet:66629", source="DOID:0060481"} +xref: UMLS:C1836123 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609460", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66629", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:66629"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015246 {source="Orphanet:66629"} ! syndromic anorectal malformation @@ -243284,7 +243191,7 @@ xref: Orphanet:828 {source="MONDO:subClassOf", source="OMIM:609508"} xref: Orphanet:90653 {source="MONDO:subClassOf", source="OMIM:609508"} xref: UMLS:C1836080 {source="OMIM:609508", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C1836081 {source="OMIM:609508", source="MONDO:superClassOf"} -is_a: MONDO:0007160 {source="ORDO:90653/btnt"} ! Stickler syndrome type 1 +is_a: MONDO:0007160 {source="Orphanet:90653/btnt"} ! Stickler syndrome type 1 is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:609508", source="indirect"} ! Stickler syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2200 {source="mim2gene_medgen"} ! COL2A1 property_value: confidence "0.934782608695653" xsd:double @@ -243319,9 +243226,9 @@ synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical, OMIM:609524] synonym: "myopathy, myofibrillar, filamin C-related" RELATED [OMIM:609524] synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1, OMIM:609524] xref: DOID:0080096 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="ORDO:171445/attributed", source="ORDO:171445/ntbt", source="Orphanet:171445"} +xref: ICD10CM:G71.8 {source="Orphanet:171445/attributed", source="Orphanet:171445/ntbt", source="Orphanet:171445"} xref: MESH:C537932 {source="MONDO:equivalentTo"} -xref: OMIM:609524 {source="DOID:0080096", source="MONDO:equivalentTo", source="ORDO:171445/e", source="Orphanet:171445"} +xref: OMIM:609524 {source="DOID:0080096", source="Orphanet:171445/e", source="MONDO:equivalentTo", source="Orphanet:171445"} xref: Orphanet:171445 {source="MONDO:equivalentTo", source="OMIM:609524"} xref: UMLS:C1836050 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:171445", source="OMIM:609524"} is_a: MONDO:0005336 {source="DOID:0080096", source="MONDO:Redundant", source="indirect"} ! myopathy @@ -243343,9 +243250,9 @@ synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratode synonym: "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" EXACT [Orphanet:66631] xref: DOID:0060337 {source="MONDO:equivalentTo"} xref: GARD:0009940 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:66631", source="ORDO:66631/attributed", source="ORDO:66631/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:66631", source="Orphanet:66631/attributed", source="Orphanet:66631/ntbt"} xref: MESH:C537943 {source="MONDO:equivalentTo", source="DOID:0060337"} -xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source="DOID:0060337", source="ORDO:66631/e"} +xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source="Orphanet:66631/e", source="DOID:0060337"} xref: Orphanet:66631 {source="OMIM:609528", source="MONDO:equivalentTo", source="DOID:0060337"} xref: SCTID:722385008 {source="MONDO:equivalentTo"} xref: UMLS:C1836033 {source="Orphanet:66631", source="OMIM:609528", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060337"} @@ -243411,8 +243318,7 @@ synonym: "autosomal recessive deafness 23" NARROW [DOID:0110481] synonym: "autosomal recessive nonsyndromic deafness 23" NARROW [OMIM:609533] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 23" NARROW [DOID:0110481, MONDORULE:2] -synonym: "deafness, autosomal recessive 23" NARROW [MONDO:Lexical, OMIM:609533] -synonym: "deafness, autosomal recessive 23" NARROW [OMIM:609533, OMIM:genemap2] +synonym: "deafness, autosomal recessive 23" NARROW [MONDO:Lexical, OMIM:609533, OMIM:genemap2] synonym: "deafness, autosomal recessive type 23" NARROW [MONDORULE:2, OMIM:609533] synonym: "DFNB23" NARROW ABBREVIATION [DOID:0110481, MONDO:Lexical, OMIM:609533] synonym: "PCDH15 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -243472,7 +243378,7 @@ xref: Orphanet:169150 {source="MONDO:subClassOf", source="OMIM:609536", source=" xref: UMLS:C0343047 {source="OMIM:609536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C9469"} is_a: MONDO:0000015 {source="DC-OMIM:609536"} ! classic complement early component deficiency is_a: MONDO:0003832 {source="DOID:8158", source="MONDO:Redundant", source="NCIT:C9469", source="indirect"} ! complement deficiency -is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency +is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0003832 ! complement deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1331 ! C5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1331 {source="mim2gene_medgen"} ! C5 @@ -243487,13 +243393,13 @@ subset: ordo_morphological_anomaly {source="Orphanet:268835"} synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053] synonym: "lipomyelomeningocele" EXACT [OMIM:609537] xref: GARD:0010053 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q05.9 {source="ORDO:268835/attributed", source="ORDO:268835/ntbt", source="Orphanet:268835"} +xref: ICD10CM:Q05.9 {source="Orphanet:268835", source="Orphanet:268835/attributed", source="Orphanet:268835/ntbt"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537030 {source="MONDO:equivalentTo"} xref: OMIM:609537 {source="MONDO:equivalentTo"} xref: Orphanet:268835 {source="MONDO:equivalentTo"} xref: SCTID:104431000119107 {source="MONDO:equivalentTo"} -xref: UMLS:C1836022 {source="OMIM:609537", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:268835/e", source="Orphanet:268835"} +xref: UMLS:C1836022 {source="OMIM:609537", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:268835", source="Orphanet:268835/e"} is_a: MONDO:0017059 {source="MONDO:0017083-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube closure defect property_value: confidence "6.142857142857142" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele xsd:anyURI {source="GARD:0010053"} @@ -243509,9 +243415,9 @@ synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [DOID synonym: "spastic paraplegia-optic atrophy-neuropathy syndrome" RELATED [Orphanet:320406] synonym: "SPOAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609541, Orphanet:320406] xref: DOID:0060491 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320406/attributed", source="ORDO:320406/ntbt", source="Orphanet:320406", source="DOID:0060491"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320406", source="Orphanet:320406/attributed", source="Orphanet:320406/ntbt", source="DOID:0060491"} xref: MESH:C563702 {source="MONDO:equivalentTo", source="DOID:0060491"} -xref: OMIM:609541 {source="MONDO:equivalentTo", source="Orphanet:320406", source="ORDO:320406/e", source="DOID:0060491"} +xref: OMIM:609541 {source="Orphanet:320406/e", source="MONDO:equivalentTo", source="Orphanet:320406", source="DOID:0060491"} xref: Orphanet:320406 {source="MONDO:equivalentTo", source="OMIM:609541", source="DOID:0060491"} xref: UMLS:C1836010 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:320406", source="OMIM:609541"} is_a: MONDO:0018550 {source="Orphanet:320406"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder @@ -243545,7 +243451,7 @@ xref: OMIM:609549 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="MONDO:subClassOf", source="OMIM:609549"} xref: UMLS:C1836006 {source="OMIM:609549", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005514 {source="DC-OMIM:609549", source="MONDO:Redundant"} ! nanophthalmia -is_a: MONDO:0021129 {source="MESH:C563700", source="MONDO:Redundant", source="OMIM:609549", source="ORDO:35612/btnt", source="indirect"} ! microphthalmia +is_a: MONDO:0021129 {source="MESH:C563700", source="MONDO:Redundant", source="OMIM:609549", source="Orphanet:35612/btnt", source="indirect"} ! microphthalmia intersection_of: MONDO:0005514 ! nanophthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18121 ! MFRP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18121 {source="mim2gene_medgen"} ! MFRP @@ -243578,10 +243484,10 @@ synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [DOID:0080120, MOND synonym: "mtDNA depletion syndrome, myopathic form" EXACT [Orphanet:254875] synonym: "MTDPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609560] xref: DOID:0080120 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:254875/attributed", source="ORDO:254875/ntbt", source="Orphanet:254875"} +xref: ICD10CM:G71.3 {source="Orphanet:254875", source="Orphanet:254875/attributed", source="Orphanet:254875/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563698 {source="MONDO:equivalentTo"} -xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="Orphanet:254875", source="ORDO:254875/e"} +xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="Orphanet:254875", source="Orphanet:254875/e"} xref: Orphanet:254875 {source="MONDO:equivalentTo", source="OMIM:609560"} xref: SCTID:703527003 {source="MONDO:equivalentTo"} xref: UMLS:C3149750 {source="NCBI:mim2gene_medline", source="OMIM:609560", source="MONDO:notFoundInDiseaseSubset"} @@ -243652,7 +243558,7 @@ xref: OMIM:609578 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="MONDO:subClassOf", source="OMIM:609578"} xref: UMLS:C1865071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609578"} is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:609578", source="indirect"} ! familial restrictive cardiomyopathy -is_a: MONDO:0019150 {source="ORDO:75249/btnt"} ! familial isolated restrictive cardiomyopathy +is_a: MONDO:0019150 {source="Orphanet:75249/btnt"} ! familial isolated restrictive cardiomyopathy property_value: confidence "1.1130104463437793" xsd:double [Term] @@ -243663,9 +243569,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:168624"} synonym: "scaphocephaly, maxillary retrusion, and intellectual disability" RELATED [OMIM:609579] synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DEPRECATED [OMIM:609579] synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624] -xref: ICD10CM:Q87.0 {source="ORDO:168624/attributed", source="ORDO:168624/ntbt", source="Orphanet:168624"} +xref: ICD10CM:Q87.0 {source="Orphanet:168624", source="Orphanet:168624/attributed", source="Orphanet:168624/ntbt"} xref: MESH:C566511 {source="MONDO:equivalentTo"} -xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="ORDO:168624/e"} +xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="Orphanet:168624/e"} xref: Orphanet:168624 {source="MONDO:equivalentTo", source="OMIM:609579"} xref: UMLS:C1865070 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168624", source="OMIM:609579"} is_a: MONDO:0015704 {source="Orphanet:168624"} ! familial scaphocephaly syndrome @@ -243685,13 +243591,13 @@ synonym: "Joubert syndrome with renal anomalies" RELATED [GARD:0010169] synonym: "JS-R" EXACT [Orphanet:220497] xref: DOID:0110999 {source="MONDO:equivalentTo"} xref: GARD:0010169 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:220497", source="ORDO:220497/attributed", source="ORDO:220497/ntbt"} -xref: ICD10CM:Q61.5 {source="Orphanet:220497", source="ORDO:220497/attributed", source="ORDO:220497/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} +xref: ICD10CM:Q61.5 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} xref: MESH:C536296 {source="MONDO:equivalentTo"} xref: NCIT:C74997 {source="MONDO:equivalentTo"} -xref: OMIM:609583 {source="ORDO:220497/e", source="DOID:0110999", source="Orphanet:220497", source="MONDO:equivalentTo", source="GARD:0010169"} -xref: OMIM:611560 {source="MONDO:relatedTo", source="Orphanet:220497", source="ORDO:220497/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:614424 {source="MONDO:relatedTo", source="Orphanet:220497", source="ORDO:220497/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:609583 {source="DOID:0110999", source="Orphanet:220497", source="MONDO:equivalentTo", source="GARD:0010169", source="Orphanet:220497/e"} +xref: OMIM:611560 {source="Orphanet:220497/btnt", source="MONDO:relatedTo", source="Orphanet:220497", source="MONDO:directSiblingOf"} +xref: OMIM:614424 {source="Orphanet:220497/btnt", source="MONDO:relatedTo", source="Orphanet:220497", source="MONDO:directSiblingOf"} xref: Orphanet:220497 {source="MONDO:equivalentTo", source="OMIM:609583"} xref: SCTID:716999001 {source="MONDO:equivalentTo"} xref: UMLS:C1846790 {source="NCIT:C74997", source="NCBI:mim2gene_medline", source="GARD:0010169", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609583"} @@ -243733,7 +243639,7 @@ xref: OMIM:609612 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:609612"} xref: UMLS:C1865040 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609612"} xref: UMLS:C1865041 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:609612"} -is_a: MONDO:0007614 {source="ORDO:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles property_value: confidence "0.19471518930725118" xsd:double [Term] @@ -243822,9 +243728,9 @@ synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [OMIM:609625] synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390] xref: DOID:0060390 {source="MONDO:equivalentTo"} xref: GARD:0003711 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:96148", source="DOID:0060390", source="ORDO:96148/attributed", source="ORDO:96148/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96148/attributed", source="Orphanet:96148/ntbt", source="Orphanet:96148", source="DOID:0060390"} xref: MESH:C567182 {source="MONDO:equivalentTo", source="DOID:0060390"} -xref: OMIM:609625 {source="ORDO:96148/e", source="Orphanet:96148", source="MONDO:equivalentTo", source="DOID:0060390"} +xref: OMIM:609625 {source="Orphanet:96148", source="MONDO:equivalentTo", source="DOID:0060390", source="Orphanet:96148/e"} xref: Orphanet:96148 {source="OMIM:609625", source="MONDO:equivalentTo", source="DOID:0060390"} xref: SCTID:718687003 {source="MONDO:equivalentTo"} xref: UMLS:C2674937 {source="OMIM:609625", source="NCBI:mim2gene_medline", source="Orphanet:96148", source="MONDO:equivalentTo"} @@ -243853,13 +243759,13 @@ synonym: "Majeed syndrome" EXACT CLINGEN_PREFERRED [OMIM:609628] synonym: "MJDS" RELATED ABBREVIATION [OMIM:609628] xref: GARD:0010088 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10072223 {source="ORDO:77297/e", source="Orphanet:77297"} -xref: MESH:C537839 {source="MONDO:equivalentTo", source="ORDO:77297/e", source="Orphanet:77297"} +xref: MedDRA:10072223 {source="Orphanet:77297/e", source="Orphanet:77297"} +xref: MESH:C537839 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"} xref: NCIT:C119058 {source="MONDO:equivalentTo"} -xref: OMIM:609628 {source="MONDO:equivalentTo", source="ORDO:77297/e", source="Orphanet:77297"} +xref: OMIM:609628 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"} xref: Orphanet:77297 {source="OMIM:609628", source="MONDO:equivalentTo"} xref: SCTID:703540008 {source="MONDO:equivalentTo"} -xref: UMLS:C1864997 {source="NCIT:C119058", source="NCBI:mim2gene_medline", source="OMIM:609628", source="MONDO:equivalentTo", source="ORDO:77297/e", source="Orphanet:77297"} +xref: UMLS:C1864997 {source="NCIT:C119058", source="Orphanet:77297/e", source="NCBI:mim2gene_medline", source="OMIM:609628", source="MONDO:equivalentTo", source="Orphanet:77297"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017397 {source="Orphanet:77297"} ! constitutional dyserythropoietic anemia is_a: MONDO:0017954 {source="Orphanet:77297"} ! pyogenic autoinflammatory syndrome @@ -243878,7 +243784,7 @@ synonym: "visceral neuropathy, familial, autosomal dominant" EXACT [OMIM:609629] xref: OMIM:609629 {source="MONDO:equivalentTo"} xref: Orphanet:2978 {source="MONDO:subClassOf", source="OMIM:609629"} xref: UMLS:C1864996 {source="OMIM:609629", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017574 {source="ORDO:2978/btnt"} ! chronic intestinal pseudoobstruction +is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction property_value: confidence "4.13" xsd:double [Term] @@ -243925,7 +243831,7 @@ xref: MESH:C566500 {source="MONDO:equivalentTo"} xref: OMIM:609634 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="MONDO:subClassOf", source="OMIM:609634"} xref: UMLS:C1864987 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609634"} -is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:609634", source="ORDO:569/btnt"} ! familial hemiplegic migraine +is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:609634", source="Orphanet:569/btnt"} ! familial hemiplegic migraine intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10585 ! SCN1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10585 {source="mim2gene_medgen"} ! SCN1A @@ -243949,7 +243855,7 @@ xref: ICD10CM:G30 {source="MONDO:subClassOf", source="DOID:0110043"} xref: MESH:C566465 {source="MONDO:equivalentTo"} xref: OMIM:609636 {source="MONDO:equivalentTo", source="DOID:0110043"} xref: UMLS:C1864828 {source="OMIM:609636", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -243992,11 +243898,11 @@ synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical, OM synonym: "LAEB" EXACT ABBREVIATION [Orphanet:158687] synonym: "lethal acantholytic epidermolysis bullosa" EXACT [OMIM:609638] xref: GARD:0009910 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158687", source="ORDO:158687/attributed", source="ORDO:158687/ntbt"} -xref: MESH:C535493 {source="Orphanet:158687", source="ORDO:158687/e", source="MONDO:equivalentTo"} -xref: OMIM:609638 {source="Orphanet:158687", source="ORDO:158687/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158687", source="Orphanet:158687/attributed", source="Orphanet:158687/ntbt"} +xref: MESH:C535493 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"} +xref: OMIM:609638 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"} xref: Orphanet:158687 {source="OMIM:609638", source="MONDO:equivalentTo"} -xref: UMLS:C1864826 {source="OMIM:609638", source="Orphanet:158687", source="ORDO:158687/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C1864826 {source="OMIM:609638", source="Orphanet:158687", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:158687/e"} is_a: MONDO:0015550 {source="Orphanet:158687"} ! suprabasal epidermolysis bullosa simplex relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 {source="mim2gene_medgen"} ! DSP property_value: confidence "3.7222222222222223" xsd:double @@ -244016,9 +243922,9 @@ synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [OMIM: synonym: "monosomy 14q22-q23" EXACT [Orphanet:264200] synonym: "monosomy 14q22q23" EXACT [Orphanet:264200] xref: GARD:0002384 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:264200", source="ORDO:264200/attributed", source="ORDO:264200/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:264200/attributed", source="Orphanet:264200/ntbt", source="Orphanet:264200"} xref: MESH:C535639 {source="MONDO:equivalentTo"} -xref: OMIM:609640 {source="ORDO:264200/e", source="Orphanet:264200", source="MONDO:equivalentTo"} +xref: OMIM:609640 {source="Orphanet:264200", source="MONDO:equivalentTo", source="Orphanet:264200/e"} xref: Orphanet:2055 {source="MONDO:equivalentObsolete", source="OMIM:609640"} xref: Orphanet:264200 {source="MONDO:equivalentTo", source="OMIM:609640"} xref: UMLS:C1864825 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609640"} @@ -244054,8 +243960,7 @@ synonym: "autosomal recessive deafness 42" NARROW [DOID:0110500] synonym: "autosomal recessive nonsyndromic deafness 42" NARROW CLINGEN_PREFERRED [OMIM:609646] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 42" NARROW [DOID:0110500, MONDORULE:2] -synonym: "deafness, autosomal recessive 42" NARROW [OMIM:609646, OMIM:genemap2] -synonym: "deafness, autosomal recessive 42" NARROW [MONDO:Lexical, OMIM:609646] +synonym: "deafness, autosomal recessive 42" NARROW [MONDO:Lexical, OMIM:609646, OMIM:genemap2] synonym: "deafness, autosomal recessive type 42" NARROW [MONDORULE:2, OMIM:609646] synonym: "DFNB42" NARROW ABBREVIATION [DOID:0110500, MONDO:Lexical, OMIM:609646] synonym: "ILDR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -244078,8 +243983,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 46" NARROW [DOID:0110503] synonym: "autosomal recessive nonsyndromic deafness 46" NARROW [OMIM:609647] synonym: "autosomal recessive nonsyndromic deafness type 46" NARROW [DOID:0110503, MONDORULE:2] -synonym: "deafness, autosomal recessive 46" NARROW [OMIM:609647, OMIM:genemap2] -synonym: "deafness, autosomal recessive 46" NARROW [MONDO:Lexical, OMIM:609647] +synonym: "deafness, autosomal recessive 46" NARROW [MONDO:Lexical, OMIM:609647, OMIM:genemap2] synonym: "DFNB46" NARROW ABBREVIATION [DOID:0110503, MONDO:Lexical, OMIM:609647] xref: DOID:0110503 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110503"} @@ -244121,7 +244025,7 @@ synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809] synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655] xref: GARD:0010061 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: MESH:C536894 {source="MONDO:equivalentTo"} -xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="ORDO:50809/e"} +xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="Orphanet:50809/e"} xref: Orphanet:50809 {source="MONDO:equivalentTo", source="OMIM:609655"} xref: UMLS:C1864784 {source="Orphanet:50809", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609655"} is_a: MONDO:0019707 {source="Orphanet:50809"} ! primary osteolysis @@ -244145,9 +244049,9 @@ name: short stature-delayed bone age due to thyroid hormone metabolism deficienc def: "Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." [Orphanet:171706] subset: ordo_disease {source="Orphanet:171706"} synonym: "thyroid hormone metabolism, abnormal" RELATED [OMIM:609698] -xref: ICD10CM:E03.1 {source="Orphanet:171706", source="ORDO:171706/attributed", source="ORDO:171706/ntbt"} +xref: ICD10CM:E03.1 {source="Orphanet:171706/attributed", source="Orphanet:171706/ntbt", source="Orphanet:171706"} xref: MESH:C566454 {source="MONDO:equivalentTo"} -xref: OMIM:609698 {source="ORDO:171706/e", source="Orphanet:171706", source="MONDO:equivalentTo"} +xref: OMIM:609698 {source="Orphanet:171706", source="MONDO:equivalentTo", source="Orphanet:171706/e"} xref: Orphanet:171706 {source="MONDO:equivalentTo", source="OMIM:609698"} xref: UMLS:C1864761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609698"} is_a: MONDO:0016412 {source="Orphanet:171706"} ! peripheral hypothyroidism @@ -244163,8 +244067,7 @@ synonym: "autosomal recessive nonsyndromic deafness 53" NARROW [OMIM:609706] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 53" NARROW [DOID:0110509, MONDORULE:2] synonym: "COL11A2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 53" NARROW [MONDO:Lexical, OMIM:609706] -synonym: "deafness, autosomal recessive 53" NARROW [OMIM:609706, OMIM:genemap2] +synonym: "deafness, autosomal recessive 53" NARROW [MONDO:Lexical, OMIM:609706, OMIM:genemap2] synonym: "deafness, autosomal recessive type 53" NARROW [MONDORULE:2, OMIM:609706] synonym: "DFNB53" NARROW ABBREVIATION [DOID:0110509, MONDO:Lexical, OMIM:609706] xref: DOID:0110509 {source="MONDO:equivalentTo"} @@ -244192,12 +244095,12 @@ synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "SPG29" EXACT ABBREVIATION [DOID:0110780, MONDO:Lexical, OMIM:609727, Orphanet:101009] xref: DOID:0110780 {source="MONDO:equivalentTo"} xref: GARD:0009729 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:101009/attributed", source="ORDO:101009/ntbt", source="Orphanet:101009", source="DOID:0110780"} -xref: MESH:C536863 {source="MONDO:equivalentTo", source="Orphanet:101009", source="ORDO:101009/e"} -xref: OMIM:609727 {source="MONDO:equivalentTo", source="Orphanet:101009", source="ORDO:101009/e", source="DOID:0110780"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/attributed", source="Orphanet:101009/ntbt"} +xref: MESH:C536863 {source="MONDO:equivalentTo", source="Orphanet:101009", source="Orphanet:101009/e"} +xref: OMIM:609727 {source="MONDO:equivalentTo", source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/e"} xref: Orphanet:101009 {source="OMIM:609727", source="MONDO:equivalentTo", source="DOID:0110780"} xref: SCTID:733029008 {source="MONDO:equivalentTo"} -xref: UMLS:C1857855 {source="NCBI:mim2gene_medline", source="OMIM:609727", source="MONDO:equivalentTo", source="Orphanet:101009", source="ORDO:101009/e"} +xref: UMLS:C1857855 {source="NCBI:mim2gene_medline", source="OMIM:609727", source="MONDO:equivalentTo", source="Orphanet:101009", source="Orphanet:101009/e"} is_a: MONDO:0015087 {source="Orphanet:101009"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110780", source="MESH:C536863", source="MONDO:Redundant", source="OMIM:609727", source="Orphanet:101009/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.61111111111111" xsd:double @@ -244215,11 +244118,11 @@ synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED synonym: "POMC deficiency" EXACT [Orphanet:71526] synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734] xref: GARD:0010823 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E66.8 {source="ORDO:71526/attributed", source="ORDO:71526/ntbt", source="Orphanet:71526"} +xref: ICD10CM:E66.8 {source="Orphanet:71526", source="Orphanet:71526/attributed", source="Orphanet:71526/ntbt"} xref: ICD9:255.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565726 {source="MONDO:equivalentTo"} xref: OMIM:601665 {source="MONDO:subClassOf", source="Orphanet:71526"} -xref: OMIM:609734 {source="MONDO:equivalentTo", source="ORDO:71526/e", source="Orphanet:71526"} +xref: OMIM:609734 {source="Orphanet:71526/e", source="MONDO:equivalentTo", source="Orphanet:71526"} xref: Orphanet:71526 {source="OMIM:609734", source="MONDO:equivalentTo"} xref: SCTID:702949005 {source="MONDO:equivalentTo"} xref: UMLS:C1857854 {source="OMIM:609734", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:71526"} @@ -244250,7 +244153,7 @@ xref: Orphanet:98988 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: Orphanet:98991 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:609741"} xref: UMLS:C1857853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609741"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110268", source="MESH:C565725", source="MONDO:Redundant", source="OMIM:609741", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2400 ! CRYBB3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2400 {source="mim2gene_medgen"} ! CRYBB3 @@ -244356,7 +244259,7 @@ synonym: "Wbs triplication syndrome" RELATED [OMIM:609757] synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [OMIM:609757] xref: GARD:0012076 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C565723 {source="MONDO:equivalentTo"} -xref: OMIM:609757 {source="MONDO:equivalentTo", source="ORDO:96121/e", source="Orphanet:96121"} +xref: OMIM:609757 {source="Orphanet:96121/e", source="MONDO:equivalentTo", source="Orphanet:96121"} xref: Orphanet:96121 {source="OMIM:609757", source="MONDO:equivalentTo"} xref: SCTID:726707004 {source="MONDO:equivalentTo"} xref: UMLS:C1857844 {source="OMIM:609757", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:96121"} @@ -244380,7 +244283,7 @@ xref: MESH:C565229 {source="MONDO:equivalentTo"} xref: OMIM:609782 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="MONDO:subClassOf", source="OMIM:609782"} xref: UMLS:C1853364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609782"} -is_a: MONDO:0007031 {source="OMIM:609782", source="ORDO:86/btnt"} ! familial abdominal aortic aneurysm +is_a: MONDO:0007031 {source="OMIM:609782", source="Orphanet:86/btnt"} ! familial abdominal aortic aneurysm relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.144117647058823" xsd:double @@ -244401,7 +244304,7 @@ xref: ICD10CM:G30 {source="MONDO:subClassOf", source="DOID:0110044"} xref: MESH:C565228 {source="MONDO:equivalentTo"} xref: OMIM:609790 {source="MONDO:equivalentTo", source="DOID:0110044"} xref: UMLS:C1853360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609790"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -244422,9 +244325,9 @@ synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1, OMIM:609796] synonym: "peeling skin syndrome, acral type" RELATED [OMIM:609796] synonym: "PSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609796] xref: GARD:0012863 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q80.8 {source="ORDO:263534/attributed", source="ORDO:263534/ntbt", source="Orphanet:263534"} +xref: ICD10CM:Q80.8 {source="Orphanet:263534", source="Orphanet:263534/attributed", source="Orphanet:263534/ntbt"} xref: MESH:C536316 {source="MONDO:equivalentTo"} -xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source="ORDO:263534/e"} +xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source="Orphanet:263534/e"} xref: Orphanet:263534 {source="MONDO:equivalentTo", source="OMIM:609796"} xref: SCTID:709416009 {source="MONDO:equivalentTo"} xref: UMLS:C1853354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:263534", source="OMIM:609796"} @@ -244507,7 +244410,7 @@ xref: OMIM:609813 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="MONDO:subClassOf", source="OMIM:609813"} xref: UMLS:C1853296 {source="OMIM:609813", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:609813", source="indirect"} ! spondylocostal dysostosis -is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:609813", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis +is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:609813", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6560 ! LFNG relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6560 {source="mim2gene_medgen"} ! LFNG @@ -244531,8 +244434,8 @@ xref: Orphanet:93571 {source="OMIM:609814", source="MONDO:directSiblingOf"} xref: Orphanet:93579 {source="OMIM:609814", source="MONDO:superClassOf"} xref: SCTID:234622003 {source="MONDO:equivalentTo"} xref: UMLS:C0398777 {source="OMIM:609814", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016244 {source="ORDO:2134/btnt"} ! atypical hemolytic-uremic syndrome -is_a: MONDO:0018013 {source="ORDO:329918/btnt"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis +is_a: MONDO:0016244 {source="Orphanet:2134/btnt"} ! atypical hemolytic-uremic syndrome +is_a: MONDO:0018013 {source="Orphanet:329918/btnt"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4883 {source="mim2gene_medgen"} ! CFH property_value: confidence "1.2474747474747478" xsd:double @@ -244548,9 +244451,9 @@ synonym: "Zd1" RELATED [OMIM:609815] synonym: "ZYGODACTYLY 1" RELATED [OMIM:609815] synonym: "zygodactyly type 1" EXACT [MONDORULE:1, OMIM:609815] synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187] -xref: ICD10CM:Q70.3 {source="Orphanet:295187", source="ORDO:295187/attributed", source="ORDO:295187/ntbt"} +xref: ICD10CM:Q70.3 {source="Orphanet:295187/attributed", source="Orphanet:295187/ntbt", source="Orphanet:295187"} xref: MESH:C565223 {source="MONDO:equivalentTo"} -xref: OMIM:609815 {source="ORDO:295187/e", source="Orphanet:295187", source="MONDO:equivalentTo"} +xref: OMIM:609815 {source="Orphanet:295187", source="MONDO:equivalentTo", source="Orphanet:295187/e"} xref: Orphanet:295187 {source="OMIM:609815", source="MONDO:equivalentTo"} xref: Orphanet:93402 {source="MONDO:subClassOf", source="OMIM:609815"} xref: UMLS:C1853294 {source="NCBI:mim2gene_medline", source="OMIM:609815", source="Orphanet:295187", source="MONDO:equivalentTo"} @@ -244581,7 +244484,7 @@ xref: OMIM:609820 {source="MONDO:equivalentTo", source="DOID:0080338"} xref: Orphanet:247511 {source="MONDO:subClassOf", source="OMIM:609820"} xref: UMLS:C1853286 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609820"} is_a: MONDO:0001115 {source="DC-OMIM:609820", source="DOID:0080338", source="OMIM:609820", source="indirect"} ! familial polycythemia -is_a: MONDO:0016599 {source="ORDO:247511/btnt"} ! autosomal dominant secondary polycythemia +is_a: MONDO:0016599 {source="Orphanet:247511/btnt"} ! autosomal dominant secondary polycythemia intersection_of: MONDO:0001115 ! familial polycythemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1232 ! EGLN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1232 {source="mim2gene_medgen"} ! EGLN1 @@ -244602,9 +244505,9 @@ synonym: "P2Y12 defect" EXACT [DOID:0060692] synonym: "platelet-type bleeding disorder 8" EXACT CLINGEN_PREFERRED [] xref: DOID:0060692 {source="MONDO:equivalentTo"} xref: GARD:0012478 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.8 {source="DOID:0060692", source="ORDO:36355/attributed", source="ORDO:36355/ntbt", source="Orphanet:36355"} +xref: ICD10CM:D69.8 {source="DOID:0060692", source="Orphanet:36355/attributed", source="Orphanet:36355/ntbt", source="Orphanet:36355"} xref: MESH:C565220 {source="MONDO:equivalentTo"} -xref: OMIM:609821 {source="DOID:0060692", source="MONDO:equivalentTo", source="ORDO:36355/e", source="Orphanet:36355"} +xref: OMIM:609821 {source="DOID:0060692", source="Orphanet:36355/e", source="MONDO:equivalentTo", source="Orphanet:36355"} xref: Orphanet:36355 {source="DOID:0060692", source="MONDO:equivalentTo", source="OMIM:609821"} xref: SCTID:725291001 {source="MONDO:equivalentTo"} xref: UMLS:C1853278 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:36355", source="OMIM:609821"} @@ -244621,8 +244524,7 @@ synonym: "autosomal recessive deafness 28" NARROW [DOID:0110486] synonym: "autosomal recessive nonsyndromic deafness 28" NARROW CLINGEN_PREFERRED [OMIM:609823] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 28" NARROW [DOID:0110486, MONDORULE:2] -synonym: "deafness, autosomal recessive 28" NARROW [MONDO:Lexical, OMIM:609823] -synonym: "deafness, autosomal recessive 28" NARROW [OMIM:609823, OMIM:genemap2] +synonym: "deafness, autosomal recessive 28" NARROW [MONDO:Lexical, OMIM:609823, OMIM:genemap2] synonym: "deafness, autosomal recessive type 28" NARROW [MONDORULE:2, OMIM:609823] synonym: "DFNB28" NARROW ABBREVIATION [DOID:0110486, MONDO:Lexical, OMIM:609823] synonym: "TRIOBP autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -244690,9 +244592,9 @@ synonym: "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, sever synonym: "CID due to partial RAG1 deficiency" EXACT [Orphanet:231154] synonym: "CID with expansion of gamma delta T cells" EXACT [Orphanet:231154] synonym: "combined immunodeficiency with expansion of gamma delta T cells" EXACT [Orphanet:231154] -xref: ICD10CM:D81.8 {source="Orphanet:231154", source="ORDO:231154/attributed", source="ORDO:231154/ntbt"} +xref: ICD10CM:D81.8 {source="Orphanet:231154/attributed", source="Orphanet:231154/ntbt", source="Orphanet:231154"} xref: MESH:C563691 {source="MONDO:equivalentTo"} -xref: OMIM:609889 {source="ORDO:231154/e", source="Orphanet:231154", source="MONDO:equivalentTo"} +xref: OMIM:609889 {source="Orphanet:231154", source="MONDO:equivalentTo", source="Orphanet:231154/e"} xref: Orphanet:231154 {source="OMIM:609889", source="MONDO:equivalentTo"} xref: SCTID:725290000 {source="MONDO:equivalentTo"} xref: UMLS:C1835931 {source="OMIM:609889", source="Orphanet:231154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -244719,7 +244621,7 @@ xref: Orphanet:97927 {source="MONDO:subClassOf", source="OMIM:609893"} xref: UMLS:C2940785 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609893"} is_a: MONDO:0000045 {source="DC-OMIM:609893", source="OMIM:609893"} ! hypothyroidism, congenital, nongoitrous is_a: MONDO:0018612 {source="DOID:0070127", source="MESH:C567935", source="indirect"} ! congenital hypothyroidism -is_a: MONDO:0019995 {source="ORDO:97927/btnt"} ! peripheral resistance to thyroid hormones +is_a: MONDO:0019995 {source="Orphanet:97927/btnt"} ! peripheral resistance to thyroid hormones property_value: confidence "29.33333333333344" xsd:double [Term] @@ -244850,10 +244752,10 @@ synonym: "N-acyl-L-amino acid amidohydrolase deficiency" EXACT [Orphanet:137754] synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [Orphanet:137754] xref: EFO:1001981 {source="MONDO:equivalentTo"} xref: GARD:0009741 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="Orphanet:137754", source="ORDO:137754/attributed", source="ORDO:137754/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:137754", source="Orphanet:137754/attributed", source="Orphanet:137754/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538246 {source="MONDO:equivalentTo"} -xref: OMIM:609924 {source="Orphanet:137754", source="ORDO:137754/e", source="MONDO:equivalentTo", source="GARD:0009741"} +xref: OMIM:609924 {source="Orphanet:137754", source="MONDO:equivalentTo", source="Orphanet:137754/e", source="GARD:0009741"} xref: Orphanet:137754 {source="OMIM:609924", source="MONDO:equivalentTo", source="GARD:0009741"} xref: SCTID:709282004 {source="MONDO:equivalentTo"} xref: UMLS:C1835922 {source="OMIM:609924", source="Orphanet:137754", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0009741"} @@ -244885,8 +244787,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 51" NARROW [DOID:0110508] synonym: "autosomal recessive nonsyndromic deafness 51" NARROW [OMIM:609941] synonym: "autosomal recessive nonsyndromic deafness type 51" NARROW [DOID:0110508, MONDORULE:2] -synonym: "deafness, autosomal recessive 51" NARROW [MONDO:Lexical, OMIM:609941] -synonym: "deafness, autosomal recessive 51" NARROW [OMIM:609941, OMIM:genemap2] +synonym: "deafness, autosomal recessive 51" NARROW [MONDO:Lexical, OMIM:609941, OMIM:genemap2] synonym: "DFNB51" NARROW ABBREVIATION [DOID:0110508, MONDO:Lexical, OMIM:609941] xref: DOID:0110508 {source="MONDO:equivalentTo"} xref: GARD:0009918 {source="MONDO:equivalentTo", source="OMIM-shared"} @@ -244980,8 +244881,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 55" NARROW [DOID:0110510] synonym: "autosomal recessive nonsyndromic deafness 55" NARROW [OMIM:609952] synonym: "autosomal recessive nonsyndromic deafness type 55" NARROW [DOID:0110510, MONDORULE:2] -synonym: "deafness, autosomal recessive 55" NARROW [OMIM:609952, OMIM:genemap2] -synonym: "deafness, autosomal recessive 55" NARROW [MONDO:Lexical, OMIM:609952] +synonym: "deafness, autosomal recessive 55" NARROW [MONDO:Lexical, OMIM:609952, OMIM:genemap2] synonym: "DFNB55" NARROW ABBREVIATION [DOID:0110510, MONDO:Lexical, OMIM:609952] xref: DOID:0110510 {source="MONDO:equivalentTo"} xref: GARD:0009919 {source="MONDO:equivalentTo", source="OMIM-shared"} @@ -245045,8 +244945,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 53" NARROW [DOID:0110579] synonym: "autosomal dominant nonsyndromic deafness 53" NARROW [OMIM:609965] synonym: "autosomal dominant nonsyndromic deafness type 53" NARROW [DOID:0110579, MONDORULE:2] -synonym: "deafness, autosomal dominant 53" NARROW [OMIM:609965, OMIM:genemap2] -synonym: "deafness, autosomal dominant 53" NARROW [MONDO:Lexical, OMIM:609965] +synonym: "deafness, autosomal dominant 53" NARROW [MONDO:Lexical, OMIM:609965, OMIM:genemap2] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 53" NARROW [GARD:0009934] synonym: "DFNA53" NARROW ABBREVIATION [DOID:0110579, MONDO:Lexical, OMIM:609965] xref: DOID:0110579 {source="MONDO:equivalentTo"} @@ -245070,9 +244969,9 @@ synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXAC synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical, OMIM:609968] synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1, OMIM:609968] xref: DOID:0070220 {source="MONDO:equivalentTo"} -xref: ICD10CM:E16.1 {source="ORDO:263458/attributed", source="ORDO:263458/ntbt", source="Orphanet:263458"} +xref: ICD10CM:E16.1 {source="Orphanet:263458/attributed", source="Orphanet:263458/ntbt", source="Orphanet:263458"} xref: MESH:C566494 {source="MONDO:equivalentTo"} -xref: OMIM:609968 {source="MONDO:equivalentTo", source="ORDO:263458/e", source="Orphanet:263458"} +xref: OMIM:609968 {source="Orphanet:263458/e", source="MONDO:equivalentTo", source="Orphanet:263458"} xref: Orphanet:263458 {source="OMIM:609968", source="MONDO:equivalentTo"} xref: SCTID:721235003 {source="MONDO:equivalentTo"} xref: UMLS:C1864952 {source="OMIM:609968", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -245114,11 +245013,11 @@ synonym: "SCHAD deficiency" RELATED [MESH:C535310, OMIM:231530, Orphanet:71212] synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530] xref: DOID:0070215 {source="MONDO:equivalentTo"} xref: GARD:0009870 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:E71.3 {source="Orphanet:71212", source="ORDO:71212/attributed", source="ORDO:71212/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:71212/attributed", source="Orphanet:71212/ntbt", source="Orphanet:71212"} xref: MESH:C535310 {source="MONDO:equivalentTo"} xref: MESH:C566493 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:231530 {source="MONDO:subClassOf", source="ORDO:71212/e", source="Orphanet:71212", source="GARD:0009870"} -xref: OMIM:609975 {source="ORDO:71212/e", source="Orphanet:71212", source="MONDO:equivalentTo"} +xref: OMIM:231530 {source="MONDO:subClassOf", source="Orphanet:71212", source="GARD:0009870", source="Orphanet:71212/e"} +xref: OMIM:609975 {source="Orphanet:71212", source="MONDO:equivalentTo", source="Orphanet:71212/e"} xref: Orphanet:71212 {source="MONDO:equivalentTo", source="GARD:0009870", source="OMIM:231530", source="OMIM:609975"} xref: SCTID:721236002 {source="MONDO:equivalentTo"} xref: UMLS:C1291230 {source="Orphanet:71212", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0009870", source="OMIM:231530"} @@ -245148,10 +245047,10 @@ synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defe synonym: "natural Killer cell deficiency, familial isolated" RELATED [OMIM:609981] synonym: "NKGCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609981] synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [Orphanet:75391] -xref: ICD10CM:D84.8 {source="ORDO:75391/attributed", source="ORDO:75391/ntbt", source="Orphanet:75391"} +xref: ICD10CM:D84.8 {source="Orphanet:75391", source="Orphanet:75391/attributed", source="Orphanet:75391/ntbt"} xref: MESH:C566492 {source="MONDO:equivalentTo"} xref: NCIT:C123729 {source="MONDO:equivalentTo"} -xref: OMIM:609981 {source="MONDO:equivalentTo", source="ORDO:75391/e", source="Orphanet:75391"} +xref: OMIM:609981 {source="MONDO:equivalentTo", source="Orphanet:75391", source="Orphanet:75391/e"} xref: Orphanet:75391 {source="MONDO:equivalentTo", source="OMIM:609981"} xref: SCTID:724275005 {source="MONDO:equivalentTo"} xref: UMLS:C1864947 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609981"} @@ -245210,11 +245109,11 @@ synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] synonym: "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome" EXACT [Orphanet:75325] xref: GARD:0009904 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: MESH:C536064 {source="ORDO:75325/e", source="Orphanet:75325", source="MONDO:equivalentTo"} -xref: OMIM:609993 {source="ORDO:75325/e", source="Orphanet:75325", source="MONDO:equivalentTo"} +xref: MESH:C536064 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"} +xref: OMIM:609993 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"} xref: Orphanet:75325 {source="MONDO:equivalentTo", source="OMIM:609993"} xref: SCTID:722114007 {source="MONDO:equivalentTo"} -xref: UMLS:C1864942 {source="ORDO:75325/e", source="NCBI:mim2gene_medline", source="Orphanet:75325", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609993"} +xref: UMLS:C1864942 {source="NCBI:mim2gene_medline", source="Orphanet:75325", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609993", source="Orphanet:75325/e"} is_a: MONDO:0003847 {source="OMIM:609993"} ! Mendelian disease is_a: MONDO:0017270 ! autosomal ichthyosis syndrome is_a: MONDO:0019852 {source="Orphanet:75325"} ! inherited primary ovarian failure @@ -245288,11 +245187,11 @@ synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" E xref: DOID:0110724 {source="MONDO:equivalentTo"} xref: GARD:0002163 {source="MONDO:equivalentTo"} xref: GARD:0004010 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110724", source="Orphanet:1947", source="ORDO:1947/attributed", source="ORDO:1947/ntbt"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110724", source="Orphanet:1947/attributed", source="Orphanet:1947/ntbt", source="Orphanet:1947"} xref: OMIM:600143 {source="GARD:0004010", source="MONDO:directSiblingOf"} -xref: OMIM:610003 {source="DOID:0110724", source="MONDO:equivalentTo", source="Orphanet:1947", source="ORDO:1947/e"} +xref: OMIM:610003 {source="Orphanet:1947/e", source="DOID:0110724", source="MONDO:equivalentTo", source="Orphanet:1947"} xref: Orphanet:1947 {source="OMIM:610003", source="DOID:0110724", source="MONDO:equivalentTo", source="GARD:0004010"} -xref: UMLS:C1864923 {source="OMIM:610003", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1947", source="ORDO:1947/e"} +xref: UMLS:C1864923 {source="Orphanet:1947/e", source="OMIM:610003", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1947"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015653 {source="Orphanet:1947"} ! monogenic epilepsy is_a: MONDO:0016295 {source="DC-OMIM:610003", source="DOID:0110724", source="OMIM:610003", source="Orphanet:1947"} ! neuronal ceroid lipofuscinosis @@ -245319,12 +245218,12 @@ synonym: "short branched-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD: synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:610006] synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [Orphanet:79157] xref: GARD:0010322 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:79157/attributed", source="ORDO:79157/ntbt", source="Orphanet:79157"} +xref: ICD10CM:E71.1 {source="Orphanet:79157/attributed", source="Orphanet:79157/ntbt", source="Orphanet:79157"} xref: MESH:C566487 {source="MONDO:equivalentTo"} xref: NCIT:C98863 {source="MONDO:equivalentTo"} -xref: OMIM:610006 {source="MONDO:equivalentTo", source="ORDO:79157/e", source="Orphanet:79157"} +xref: OMIM:610006 {source="Orphanet:79157/e", source="MONDO:equivalentTo", source="Orphanet:79157"} xref: Orphanet:79157 {source="MONDO:equivalentTo", source="OMIM:610006"} -xref: UMLS:C1864912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610006", source="ORDO:79157/e", source="Orphanet:79157", source="NCIT:C98863"} +xref: UMLS:C1864912 {source="Orphanet:79157/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610006", source="Orphanet:79157", source="NCIT:C98863"} is_a: MONDO:0019058 {source="Orphanet:79157"} ! neurometabolic disease is_a: MONDO:0019215 {source="Orphanet:79157"} ! classic organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/91 {source="mim2gene_medgen"} ! ACADSB @@ -245344,9 +245243,9 @@ synonym: "glutamine synthetase deficiency, congenital systemic" RELATED [GARD:00 synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278] synonym: "inherited GS deficiency" EXACT [Orphanet:71278] xref: GARD:0009848 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:71278", source="ORDO:71278/attributed", source="ORDO:71278/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:71278/attributed", source="Orphanet:71278/ntbt", source="Orphanet:71278"} xref: MESH:C536832 {source="MONDO:equivalentTo"} -xref: OMIM:610015 {source="ORDO:71278/e", source="Orphanet:71278", source="MONDO:equivalentTo"} +xref: OMIM:610015 {source="Orphanet:71278", source="MONDO:equivalentTo", source="Orphanet:71278/e"} xref: Orphanet:71278 {source="MONDO:equivalentTo", source="OMIM:610015"} xref: UMLS:C1864910 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610015"} is_a: MONDO:0017352 {source="Orphanet:71278"} ! disorder of glutamine metabolism @@ -245404,10 +245303,10 @@ is_a: MONDO:0005129 {source="DOID", source="DOID:0110238", source="MESH:C535337" intersection_of: MONDO:0005129 ! cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14673 ! FYCO1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14673 {source="mim2gene_medgen"} ! FYCO1 -relationship: excluded_subClassOf MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -relationship: excluded_subClassOf MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract -relationship: excluded_subClassOf MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract -relationship: excluded_subClassOf MONDO:0020379 {source="MONDO:Redundant", source="ORDO:98995/btnt", source="indirect"} ! early-onset zonular cataract +relationship: excluded_subClassOf MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +relationship: excluded_subClassOf MONDO:0020376 {source="Orphanet:98991/btnt"} ! early-onset nuclear cataract +relationship: excluded_subClassOf MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract +relationship: excluded_subClassOf MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt", source="indirect"} ! early-onset zonular cataract relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "3.3019579861886594" xsd:double @@ -245431,10 +245330,10 @@ synonym: "MCT1 hyperinsulinism" EXACT [NCIT:C131839] synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839] xref: DOID:0070214 {source="MONDO:equivalentTo"} xref: GARD:0009932 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E16.1 {source="Orphanet:165991", source="ORDO:165991/attributed", source="ORDO:165991/ntbt"} +xref: ICD10CM:E16.1 {source="Orphanet:165991", source="Orphanet:165991/attributed", source="Orphanet:165991/ntbt"} xref: MESH:C538376 {source="MONDO:equivalentTo"} xref: NCIT:C131839 {source="MONDO:equivalentTo"} -xref: OMIM:610021 {source="Orphanet:165991", source="ORDO:165991/e", source="MONDO:equivalentTo"} +xref: OMIM:610021 {source="Orphanet:165991", source="MONDO:equivalentTo", source="Orphanet:165991/e"} xref: Orphanet:165991 {source="OMIM:610021", source="MONDO:equivalentTo"} xref: SCTID:715830008 {source="MONDO:equivalentTo"} xref: UMLS:C1864902 {source="OMIM:610021", source="Orphanet:165991", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -245473,7 +245372,7 @@ xref: OMIM:610024 {source="MONDO:equivalentTo"} xref: Orphanet:49382 {source="MONDO:subClassOf", source="OMIM:610024"} xref: UMLS:C1864900 {source="NCBI:mim2gene_medline", source="OMIM:610024", source="MONDO:equivalentTo"} xref: UMLS:C3552227 {source="OMIM:610024", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018852 {source="ORDO:49382/btnt"} ! achromatopsia +is_a: MONDO:0018852 {source="Orphanet:49382/btnt"} ! achromatopsia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8790 {source="mim2gene_medgen"} ! PDE6H relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.30809469528042244" xsd:double @@ -245495,8 +245394,8 @@ synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM: synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090132 {source="MONDO:equivalentTo"} xref: GARD:10783 {source="DOID:0090132"} -xref: ICD10CM:Q04.3 {source="Orphanet:300573", source="DOID:0090132", source="ORDO:300573/attributed", source="ORDO:300573/ntbt"} -xref: OMIM:610031 {source="Orphanet:300573", source="DOID:0090132", source="MONDO:equivalentTo", source="ORDO:300573/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:300573", source="Orphanet:300573/attributed", source="Orphanet:300573/ntbt", source="DOID:0090132"} +xref: OMIM:610031 {source="Orphanet:300573", source="DOID:0090132", source="MONDO:equivalentTo", source="Orphanet:300573/e"} xref: Orphanet:208444 {source="MONDO:subClassOf", source="OMIM:610031", source="DOID:0090132"} xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:610031"} xref: Orphanet:300573 {source="OMIM:610031", source="DOID:0090132", source="MONDO:equivalentTo"} @@ -245506,8 +245405,8 @@ xref: UMLS:CN203403 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:300573", source="Orphanet:300573/inferred", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0000904 {source="DOID:0090132", source="MONDO:Redundant", source="OMIM:610031"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0015159 {source="Orphanet:300573"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0016162 {source="ORDO:208444/btnt", source="Orphanet:300573"} ! bilateral frontal polymicrogyria -is_a: MONDO:0017091 {source="MONDO:Redundant", source="ORDO:268940/btnt", source="Orphanet:300573/inferred"} ! bilateral polymicrogyria +is_a: MONDO:0016162 {source="Orphanet:208444/btnt", source="Orphanet:300573"} ! bilateral frontal polymicrogyria +is_a: MONDO:0017091 {source="MONDO:Redundant", source="Orphanet:268940/btnt", source="Orphanet:300573/inferred"} ! bilateral polymicrogyria intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30829 ! TUBB2B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30829 {source="mim2gene_medgen"} ! TUBB2B @@ -245526,9 +245425,9 @@ synonym: "Pitt-Hopkins like syndrome 1" EXACT [OMIM:610042, OMIM:genemap2] synonym: "Pitt-Hopkins-like syndrome 1" RELATED [OMIM:610042] synonym: "PTHSL1" RELATED ABBREVIATION [OMIM:610042] xref: DOID:0090130 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="Orphanet:163681", source="DOID:0090130", source="ORDO:163681/attributed", source="ORDO:163681/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:163681", source="DOID:0090130", source="Orphanet:163681/attributed", source="Orphanet:163681/ntbt"} xref: NCIT:C133743 {source="MONDO:equivalentTo"} -xref: OMIM:610042 {source="Orphanet:163681", source="DOID:0090130", source="ORDO:163681/e", source="MONDO:equivalentTo"} +xref: OMIM:610042 {source="Orphanet:163681", source="DOID:0090130", source="MONDO:equivalentTo", source="Orphanet:163681/e"} xref: Orphanet:163681 {source="OMIM:610042", source="DOID:0090130", source="MONDO:equivalentTo"} xref: Orphanet:221150 {source="OMIM:610042", source="MONDO:superClassOf"} xref: UMLS:C1864887 {source="OMIM:610042", source="Orphanet:163681", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="NCIT:C133743"} @@ -245550,10 +245449,10 @@ synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical, OMIM:61 synonym: "CSCD" EXACT ABBREVIATION [DOID:0060445, MONDO:Lexical, OMIM:610048, Orphanet:101068] synonym: "Witschel dystrophy" EXACT [Orphanet:101068] xref: DOID:0060445 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:101068", source="DOID:0060445", source="ORDO:101068/attributed", source="ORDO:101068/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:101068/attributed", source="Orphanet:101068/ntbt", source="Orphanet:101068", source="DOID:0060445"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566452 {source="MONDO:equivalentTo", source="DOID:0060445"} -xref: OMIM:610048 {source="ORDO:101068/e", source="Orphanet:101068", source="MONDO:equivalentTo", source="DOID:0060445"} +xref: OMIM:610048 {source="Orphanet:101068", source="MONDO:equivalentTo", source="DOID:0060445", source="Orphanet:101068/e"} xref: Orphanet:101068 {source="MONDO:equivalentTo", source="DOID:0060445", source="OMIM:610048"} xref: SCTID:702359002 {source="MONDO:equivalentTo"} xref: UMLS:C1864738 {source="Orphanet:101068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610048"} @@ -245612,7 +245511,7 @@ xref: MESH:C566451 {source="MONDO:equivalentTo"} xref: OMIM:610069 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="MONDO:subClassOf", source="OMIM:610069"} xref: UMLS:C1864730 {source="OMIM:610069", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011023 {source="MONDO:Redundant", source="ORDO:157794/btnt"} ! hereditary mixed polyposis syndrome +is_a: MONDO:0011023 {source="MONDO:Redundant", source="Orphanet:157794/btnt"} ! hereditary mixed polyposis syndrome intersection_of: MONDO:0011023 ! hereditary mixed polyposis syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1076 ! BMPR1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1076 {source="mim2gene_medgen"} ! BMPR1A @@ -245629,7 +245528,7 @@ xref: OMIM:610071 {source="MONDO:equivalentTo"} xref: Orphanet:99879 {source="MONDO:subClassOf", source="OMIM:610071"} xref: UMLS:C1864729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610071"} is_a: MONDO:0001741 {source="MESH:C566450/inferred", source="MONDO:Redundant", source="OMIM:610071", source="indirect"} ! hyperparathyroidism -is_a: MONDO:0015027 {source="ORDO:99879/btnt"} ! familial isolated hyperparathyroidism +is_a: MONDO:0015027 {source="Orphanet:99879/btnt"} ! familial isolated hyperparathyroidism property_value: confidence "0.2656249999999998" xsd:double [Term] @@ -245652,9 +245551,9 @@ synonym: "pyridoxine-5'-phosphate oxidase deficiency" RELATED [GARD:0010730] synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [OMIM:610090] xref: DOID:0111329 {source="MONDO:equivalentTo"} xref: GARD:0010730 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.8 {source="ORDO:79096/attributed", source="ORDO:79096/ntbt", source="Orphanet:79096"} +xref: ICD10CM:G40.8 {source="Orphanet:79096", source="Orphanet:79096/attributed", source="Orphanet:79096/ntbt"} xref: MESH:C566449 {source="MONDO:equivalentTo"} -xref: OMIM:610090 {source="ORDO:79096/e", source="MONDO:equivalentTo", source="Orphanet:79096"} +xref: OMIM:610090 {source="MONDO:equivalentTo", source="Orphanet:79096", source="Orphanet:79096/e"} xref: Orphanet:79096 {source="MONDO:equivalentTo", source="OMIM:610090"} xref: SCTID:724576005 {source="MONDO:equivalentTo"} xref: UMLS:C1864723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79096", source="OMIM:610090"} @@ -245683,7 +245582,7 @@ xref: OMIM:610092 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:610092"} xref: UMLS:C1864721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610092"} xref: UMLS:C1864722 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610092"} -is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:610092", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:610092", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1975 ! VSX2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1975 {source="mim2gene_medgen"} ! VSX2 @@ -245708,7 +245607,7 @@ xref: OMIM:610093 {source="MONDO:equivalentTo", source="DOID:0060839"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="OMIM:610093", source="DOID:0060839"} xref: UMLS:C1864720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610093"} is_a: MONDO:0000062 {source="DC-OMIM:610093", source="MONDO:Redundant", source="OMIM:610093"} ! isolated microphthalmia -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1975 ! VSX2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1975 {source="mim2gene_medgen"} ! VSX2 @@ -245722,8 +245621,8 @@ subset: ordo_disease {source="Orphanet:399086"} synonym: "distal myopathy type 3" EXACT [Orphanet:399086] synonym: "MPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610099, Orphanet:399086] synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical, OMIM:610099] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399086", source="ORDO:399086/attributed", source="ORDO:399086/ntbt"} -xref: OMIM:610099 {source="MONDO:equivalentTo", source="Orphanet:399086", source="ORDO:399086/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399086/attributed", source="Orphanet:399086/ntbt", source="Orphanet:399086"} +xref: OMIM:610099 {source="Orphanet:399086/e", source="MONDO:equivalentTo", source="Orphanet:399086"} xref: Orphanet:399086 {source="OMIM:610099", source="MONDO:equivalentTo"} xref: SCTID:763718009 {source="MONDO:equivalentTo"} xref: UMLS:C1864706 {source="OMIM:610099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:399086"} @@ -245747,8 +245646,8 @@ synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1] synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964] xref: DOID:0090069 {source="MONDO:equivalentTo"} xref: GARD:0012447 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:401964", source="ORDO:401964/attributed", source="ORDO:401964/ntbt"} -xref: OMIM:610100 {source="ORDO:401964/e", source="Orphanet:401964", source="DOID:0090069", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:401964/attributed", source="Orphanet:401964/ntbt", source="Orphanet:401964"} +xref: OMIM:610100 {source="Orphanet:401964", source="DOID:0090069", source="MONDO:equivalentTo", source="Orphanet:401964/e"} xref: Orphanet:401964 {source="OMIM:610100", source="MONDO:equivalentTo"} xref: UMLS:C1864695 {source="OMIM:610100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN226146 {source="MONDO:equivalentTo"} @@ -245776,7 +245675,7 @@ xref: Orphanet:169150 {source="MONDO:subClassOf", source="OMIM:610102"} xref: Orphanet:1695150 {source="DOID:0060300"} xref: UMLS:C1864694 {source="OMIM:610102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000015 {source="DC-OMIM:610102", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency +is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1346 ! C7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1346 {source="mim2gene_medgen"} ! C7 @@ -245798,9 +245697,9 @@ synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:desi synonym: "syndromic microphthalmia type 5" EXACT CLINGEN_PREFERRED [] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364] xref: GARD:0003692 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q11.2 {source="Orphanet:178364", source="ORDO:178364/attributed", source="ORDO:178364/ntbt"} +xref: ICD10CM:Q11.2 {source="Orphanet:178364", source="Orphanet:178364/attributed", source="Orphanet:178364/ntbt"} xref: MESH:C566441 {source="MONDO:equivalentTo"} -xref: OMIM:610125 {source="Orphanet:178364", source="ORDO:178364/e", source="MONDO:equivalentTo"} +xref: OMIM:610125 {source="Orphanet:178364", source="MONDO:equivalentTo", source="Orphanet:178364/e"} xref: Orphanet:178364 {source="MONDO:equivalentTo", source="OMIM:610125"} xref: SCTID:718761007 {source="MONDO:equivalentTo"} xref: UMLS:C1864690 {source="Orphanet:178364", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610125"} @@ -245839,9 +245738,9 @@ synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [OMIM:610127] xref: DOID:0110725 {source="MONDO:equivalentTo"} xref: GARD:0001218 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:228337", source="DOID:0110725", source="ORDO:228337/attributed", source="ORDO:228337/ntbt"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:228337", source="DOID:0110725", source="Orphanet:228337/attributed", source="Orphanet:228337/ntbt"} xref: MESH:C566438 {source="MONDO:equivalentTo"} -xref: OMIM:610127 {source="Orphanet:228337", source="ORDO:228337/e", source="DOID:0110725", source="MONDO:equivalentTo"} +xref: OMIM:610127 {source="Orphanet:228337", source="DOID:0110725", source="MONDO:equivalentTo", source="Orphanet:228337/e"} xref: Orphanet:168486 {source="MONDO:subClassOf", source="OMIM:610127"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:610127"} xref: Orphanet:228337 {source="DOID:0110725", source="MONDO:equivalentTo", source="OMIM:610127"} @@ -245850,14 +245749,14 @@ xref: Orphanet:79264 {source="MONDO:subClassOf", source="OMIM:610127"} xref: SCTID:720831008 {source="MONDO:equivalentTo"} xref: UMLS:C1864669 {source="Orphanet:228337", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610127"} xref: UMLS:C1864670 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610127"} -is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228337"} ! late infantile neuronal ceroid lipofuscinosis +is_a: MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228337"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0016295 {source="DOID:0110725", source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:610127", source="Orphanet:228337/inferred"} ! neuronal ceroid lipofuscinosis -is_a: MONDO:0019260 {source="ORDO:79262/btnt", source="Orphanet:228337"} ! adult neuronal ceroid lipofuscinosis -is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228337"} ! juvenile neuronal ceroid lipofuscinosis +is_a: MONDO:0019260 {source="Orphanet:228337", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis +is_a: MONDO:0019262 {source="Orphanet:228337", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2529 ! CTSD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2529 {source="mim2gene_medgen"} ! CTSD -relationship: excluded_subClassOf MONDO:0009744 {source="ORDO:168486/btnt", source="Orphanet:228337"} ! neuronal ceroid lipofuscinosis 1 +relationship: excluded_subClassOf MONDO:0009744 {source="Orphanet:168486/btnt", source="Orphanet:228337"} ! neuronal ceroid lipofuscinosis 1 property_value: confidence "0.625" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 xsd:anyURI {source="GARD:0001218"} @@ -245877,7 +245776,7 @@ xref: OMIM:610131 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:subClassOf", source="OMIM:610131"} xref: UMLS:C1864668 {source="OMIM:610131", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="MONDO:0012415/inferred", source="MONDO:Redundant", source="OMIM:610131", source="indirect"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0008003 {source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia +is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9180 ! POLG2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9180 {source="mim2gene_medgen"} ! POLG2 @@ -245907,12 +245806,12 @@ synonym: "atriodigital dysplasia, Slovenian type" EXACT [Orphanet:168796] synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" EXACT [Orphanet:168796] synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140] xref: GARD:0009846 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:168796", source="ORDO:168796/attributed", source="ORDO:168796/ntbt"} -xref: MESH:C535852 {source="Orphanet:168796", source="ORDO:168796/e", source="MONDO:equivalentTo"} -xref: OMIM:610140 {source="Orphanet:168796", source="ORDO:168796/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:168796", source="Orphanet:168796/attributed", source="Orphanet:168796/ntbt"} +xref: MESH:C535852 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} +xref: OMIM:610140 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} xref: Orphanet:168796 {source="MONDO:equivalentTo", source="OMIM:610140"} xref: SCTID:721014007 {source="MONDO:equivalentTo"} -xref: UMLS:C1857829 {source="Orphanet:168796", source="ORDO:168796/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610140"} +xref: UMLS:C1857829 {source="Orphanet:168796", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:168796/e", source="OMIM:610140"} is_a: MONDO:0016432 {source="MONDO:cjm"} ! heart-hand syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6636 {source="mim2gene_medgen"} ! LMNA relationship: disease_has_feature HP:0001644 {source="Orphanet:168796"} ! Dilated cardiomyopathy @@ -245927,8 +245826,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 62" NARROW [DOID:0110514] synonym: "autosomal recessive nonsyndromic deafness 62" NARROW [OMIM:610143] synonym: "autosomal recessive nonsyndromic deafness type 62" NARROW [DOID:0110514, MONDORULE:2] -synonym: "deafness, autosomal recessive 62" NARROW [OMIM:610143, OMIM:genemap2] -synonym: "deafness, autosomal recessive 62" NARROW [MONDO:Lexical, OMIM:610143] +synonym: "deafness, autosomal recessive 62" NARROW [MONDO:Lexical, OMIM:610143, OMIM:genemap2] synonym: "DFNB62" NARROW ABBREVIATION [DOID:0110514, MONDO:Lexical, OMIM:610143] xref: DOID:0110514 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110514"} @@ -245974,8 +245872,7 @@ synonym: "autosomal recessive deafness 49" NARROW [DOID:0110506] synonym: "autosomal recessive nonsyndromic deafness 49" NARROW CLINGEN_PREFERRED [OMIM:610153] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 49" NARROW [DOID:0110506, MONDORULE:2] -synonym: "deafness, autosomal recessive 49" NARROW [MONDO:Lexical, OMIM:610153] -synonym: "deafness, autosomal recessive 49" NARROW [OMIM:610153, OMIM:genemap2] +synonym: "deafness, autosomal recessive 49" NARROW [MONDO:Lexical, OMIM:610153, OMIM:genemap2] synonym: "deafness, autosomal recessive type 49" NARROW [MONDORULE:2, OMIM:610153] synonym: "DFNB49" NARROW ABBREVIATION [DOID:0110506, MONDO:Lexical, OMIM:610153] synonym: "MARVELD2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -246001,8 +245898,7 @@ synonym: "autosomal recessive deafness 44" NARROW [DOID:0110501] synonym: "autosomal recessive nonsyndromic deafness 44" NARROW [OMIM:610154] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 44" NARROW [DOID:0110501, MONDORULE:2] -synonym: "deafness, autosomal recessive 44" NARROW [OMIM:610154, OMIM:genemap2] -synonym: "deafness, autosomal recessive 44" NARROW [MONDO:Lexical, OMIM:610154] +synonym: "deafness, autosomal recessive 44" NARROW [MONDO:Lexical, OMIM:610154, OMIM:genemap2] synonym: "deafness, autosomal recessive type 44" NARROW [MONDORULE:2, OMIM:610154] synonym: "DFNB44" NARROW ABBREVIATION [DOID:0110501, MONDO:Lexical, OMIM:610154] xref: DOID:0110501 {source="MONDO:equivalentTo"} @@ -246047,11 +245943,11 @@ synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndro synonym: "MORM syndrome" EXACT [OMIM:610156] synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] xref: GARD:0010121 {source="MONDO:equivalentTo"} -xref: MESH:C536984 {source="MONDO:equivalentTo", source="ORDO:75858/e", source="Orphanet:75858"} -xref: OMIM:610156 {source="MONDO:equivalentTo", source="ORDO:75858/e", source="Orphanet:75858"} +xref: MESH:C536984 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} +xref: OMIM:610156 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"} xref: SCTID:715628009 {source="MONDO:equivalentTo"} -xref: UMLS:C1857802 {source="NCBI:mim2gene_medline", source="OMIM:610156", source="MONDO:equivalentTo", source="ORDO:75858/e", source="Orphanet:75858"} +xref: UMLS:C1857802 {source="NCBI:mim2gene_medline", source="OMIM:610156", source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} is_a: MONDO:0016565 {source="Orphanet:75858"} ! syndromic genetic obesity is_a: MONDO:0019118 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:75858", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21474 {source="mim2gene_medgen"} ! INPP5E @@ -246100,7 +245996,7 @@ xref: MESH:C565712 {source="MONDO:equivalentTo"} xref: OMIM:610163 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="MONDO:subClassOf", source="OMIM:610163"} xref: UMLS:C1857798 {source="OMIM:610163", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015703 {source="ORDO:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta +is_a: MONDO:0015703 {source="Orphanet:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta is_a: MONDO:0015974 {source="DOID:0060007", source="MONDO:Redundant", source="indirect"} ! severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency intersection_of: MONDO:0015974 ! severe combined immunodeficiency @@ -246188,7 +246084,7 @@ xref: MESH:C567656 {source="MONDO:equivalentTo"} xref: OMIM:610185 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:subClassOf", source="OMIM:610185"} xref: UMLS:C2750234 {source="OMIM:610185", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:610185", source="ORDO:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium +is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:610185", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26600 ! WDR81 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26600 {source="mim2gene_medgen"} ! WDR81 @@ -246311,9 +246207,9 @@ synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, OMIM:610198] xref: DOID:0110000 {source="MONDO:equivalentTo"} xref: GARD:0010344 {source="MONDO:equivalentTo"} xref: GARD:0012964 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E71.1 {source="Orphanet:66634", source="DOID:0110000", source="ORDO:66634/attributed", source="ORDO:66634/ntbt"} +xref: ICD10CM:E71.1 {source="Orphanet:66634", source="Orphanet:66634/attributed", source="Orphanet:66634/ntbt", source="DOID:0110000"} xref: MESH:C565706 {source="MONDO:equivalentTo"} -xref: OMIM:610198 {source="ORDO:66634/e", source="Orphanet:66634", source="GARD:0010344", source="MONDO:equivalentTo", source="DOID:0110000"} +xref: OMIM:610198 {source="Orphanet:66634", source="GARD:0010344", source="MONDO:equivalentTo", source="Orphanet:66634/e", source="DOID:0110000"} xref: Orphanet:66634 {source="OMIM:610198", source="MONDO:equivalentTo", source="DOID:0110000"} xref: SCTID:711412004 {source="MONDO:equivalentTo"} xref: UMLS:C1857776 {source="Orphanet:66634", source="OMIM:610198", source="GARD:0010344", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -246340,7 +246236,7 @@ synonym: "neonatal diabetes mellitus with congenital hypothyroidism" EXACT CLING synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [Orphanet:79118] xref: DOID:0060638 {source="MONDO:equivalentTo"} xref: MESH:C565705 {source="MONDO:equivalentTo"} -xref: OMIM:610199 {source="Orphanet:79118", source="MONDO:equivalentTo", source="DOID:0060638", source="ORDO:79118/e"} +xref: OMIM:610199 {source="Orphanet:79118", source="MONDO:equivalentTo", source="Orphanet:79118/e", source="DOID:0060638"} xref: Orphanet:79118 {source="OMIM:610199", source="MONDO:equivalentTo", source="DOID:0060638"} xref: UMLS:C1857775 {source="OMIM:610199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016391 {source="DOID:0060638"} ! neonatal diabetes mellitus @@ -246374,7 +246270,7 @@ xref: Orphanet:98984 {source="MONDO:subClassOf", source="OMIM:610202", source="M xref: Orphanet:98989 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:610202"} xref: UMLS:C1857768 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610202"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110256", source="MESH:C565703", source="MONDO:Redundant", source="OMIM:610202", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6776 ! MAF relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6776 {source="mim2gene_medgen"} ! MAF @@ -246393,9 +246289,9 @@ synonym: "PCH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610204, Orphanet:166068] synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical, OMIM:610204] xref: DOID:0060274 {source="MONDO:equivalentTo"} xref: GARD:0010709 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:166068", source="ORDO:166068/attributed", source="ORDO:166068/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:166068", source="Orphanet:166068/attributed", source="Orphanet:166068/ntbt"} xref: MESH:C537745 {source="DOID:0060274", source="MONDO:equivalentTo"} -xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="ORDO:166068/e", source="MONDO:equivalentTo"} +xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="MONDO:equivalentTo", source="Orphanet:166068/e"} xref: Orphanet:166068 {source="DOID:0060274", source="MONDO:equivalentTo", source="OMIM:610204"} xref: SCTID:718607001 {source="MONDO:equivalentTo"} xref: UMLS:C1857762 {source="DOID:0060274", source="Orphanet:166068", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610204"} @@ -246415,8 +246311,8 @@ synonym: "Alagille-Watson syndrome due to a NOTCH2 point mutation" EXACT [Orphan synonym: "ALGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610205] synonym: "Arteriohepatic dysplasia due to a NOTCH2 point mutation" EXACT [Orphanet:261629] synonym: "syndromic bile duct paucity due to a NOTCH2 point mutation" EXACT [Orphanet:261629] -xref: ICD10CM:Q44.7 {source="Orphanet:261629", source="ORDO:261629/attributed", source="ORDO:261629/ntbt"} -xref: OMIM:610205 {source="ORDO:261629/e", source="Orphanet:261629", source="MONDO:equivalentTo"} +xref: ICD10CM:Q44.7 {source="Orphanet:261629/attributed", source="Orphanet:261629/ntbt", source="Orphanet:261629"} +xref: OMIM:610205 {source="Orphanet:261629", source="MONDO:equivalentTo", source="Orphanet:261629/e"} xref: Orphanet:261629 {source="MONDO:equivalentTo", source="OMIM:610205"} xref: Orphanet:52 {source="MONDO:subClassOf", source="OMIM:610205"} xref: UMLS:C1857761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610205"} @@ -246457,8 +246353,7 @@ synonym: "autosomal recessive nonsyndromic deafness 66" NARROW [OMIM:610212] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 66" NARROW [DOID:0110517, MONDORULE:2] synonym: "DCDC2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 66" NARROW [MONDO:Lexical, OMIM:610212] -synonym: "deafness, autosomal recessive 66" NARROW [OMIM:610212, OMIM:genemap2] +synonym: "deafness, autosomal recessive 66" NARROW [MONDO:Lexical, OMIM:610212, OMIM:genemap2] synonym: "deafness, autosomal recessive type 66" NARROW [MONDORULE:2, OMIM:610212] synonym: "DFNB66" NARROW ABBREVIATION [DOID:0110517, MONDO:Lexical, OMIM:610212] xref: DOID:0110517 {source="MONDO:equivalentTo"} @@ -246517,8 +246412,7 @@ synonym: "autosomal recessive deafness 59" NARROW [DOID:0110511] synonym: "autosomal recessive nonsyndromic deafness 59" NARROW CLINGEN_PREFERRED [OMIM:610220] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PJVK" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 59" NARROW [DOID:0110511, MONDORULE:2] -synonym: "deafness, autosomal recessive 59" NARROW [OMIM:610220, OMIM:genemap2] -synonym: "deafness, autosomal recessive 59" NARROW [MONDO:Lexical, OMIM:610220] +synonym: "deafness, autosomal recessive 59" NARROW [MONDO:Lexical, OMIM:610220, OMIM:genemap2] synonym: "deafness, autosomal recessive type 59" NARROW [MONDORULE:2, OMIM:610220] synonym: "DFNB59" NARROW ABBREVIATION [DOID:0110511, MONDO:Lexical, OMIM:610220] synonym: "PJVK autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -246540,7 +246434,7 @@ name: seborrhea-like dermatitis with psoriasiform elements subset: ordo_disease {source="Orphanet:168606"} synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227] xref: MESH:C565217 {source="MONDO:equivalentTo"} -xref: OMIM:610227 {source="MONDO:equivalentTo", source="Orphanet:168606", source="ORDO:168606/e"} +xref: OMIM:610227 {source="Orphanet:168606/e", source="MONDO:equivalentTo", source="Orphanet:168606"} xref: Orphanet:168606 {source="MONDO:equivalentTo", source="OMIM:610227"} xref: UMLS:C1853258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610227", source="Orphanet:168606"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease @@ -246558,10 +246452,10 @@ synonym: "SPD, Malik type" EXACT [Orphanet:295199] synonym: "SPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610234, Orphanet:295199] synonym: "synpolydactyly 3" RELATED [MONDO:Lexical, OMIM:610234] synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199] -xref: ICD10CM:Q70.0 {source="ORDO:295199/nd", source="Orphanet:295199", source="ORDO:295199/attributed"} -xref: ICD10CM:Q70.2 {source="ORDO:295199/nd", source="Orphanet:295199", source="ORDO:295199/attributed"} +xref: ICD10CM:Q70.0 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} +xref: ICD10CM:Q70.2 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} xref: MESH:C565216 {source="MONDO:equivalentTo"} -xref: OMIM:610234 {source="Orphanet:295199", source="ORDO:295199/e", source="MONDO:equivalentTo"} +xref: OMIM:610234 {source="Orphanet:295199", source="MONDO:equivalentTo", source="Orphanet:295199/e"} xref: Orphanet:295199 {source="OMIM:610234", source="MONDO:equivalentTo"} xref: Orphanet:93403 {source="MONDO:subClassOf", source="OMIM:610234"} xref: UMLS:C1853255 {source="OMIM:610234", source="Orphanet:295199", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -246598,12 +246492,12 @@ synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical, OMIM:610245] synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245] xref: DOID:0050973 {source="MONDO:equivalentTo"} xref: GARD:0009950 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="ORDO:101108/attributed", source="ORDO:101108/ntbt", source="Orphanet:101108"} -xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="ORDO:101108/e"} -xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="ORDO:101108/e"} +xref: ICD10CM:G11.2 {source="Orphanet:101108", source="Orphanet:101108/attributed", source="Orphanet:101108/ntbt"} +xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} +xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: Orphanet:101108 {source="OMIM:610245", source="MONDO:equivalentTo"} xref: SCTID:718772002 {source="MONDO:equivalentTo"} -xref: UMLS:C1853250 {source="OMIM:610245", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101108", source="ORDO:101108/e"} +xref: UMLS:C1853250 {source="OMIM:610245", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: UMLS:C4305146 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019792 {source="Orphanet:101108"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8820 {source="mim2gene_medgen"} ! PDYN @@ -246619,12 +246513,12 @@ synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical, OMIM:610246] synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246] xref: DOID:0050977 {source="MONDO:equivalentTo"} xref: GARD:0009951 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.1 {source="ORDO:101109/attributed", source="ORDO:101109/ntbt", source="Orphanet:101109"} -xref: MESH:C537205 {source="MONDO:equivalentTo", source="ORDO:101109/e", source="Orphanet:101109"} -xref: OMIM:610246 {source="MONDO:equivalentTo", source="DOID:0050977", source="ORDO:101109/e", source="Orphanet:101109"} +xref: ICD10CM:G11.1 {source="Orphanet:101109/attributed", source="Orphanet:101109/ntbt", source="Orphanet:101109"} +xref: MESH:C537205 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="Orphanet:101109"} +xref: OMIM:610246 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="DOID:0050977", source="Orphanet:101109"} xref: Orphanet:101109 {source="MONDO:equivalentTo", source="OMIM:610246"} xref: SCTID:715824008 {source="MONDO:equivalentTo"} -xref: UMLS:C1853249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610246", source="ORDO:101109/e", source="Orphanet:101109"} +xref: UMLS:C1853249 {source="Orphanet:101109/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610246", source="Orphanet:101109"} xref: UMLS:C4274988 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019792 {source="Orphanet:101109"} ! autosomal dominant cerebellar ataxia type I @@ -246651,8 +246545,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 65" NARROW [DOID:0110516] synonym: "autosomal recessive nonsyndromic deafness 65" NARROW [OMIM:610248] synonym: "autosomal recessive nonsyndromic deafness type 65" NARROW [DOID:0110516, MONDORULE:2] -synonym: "deafness, autosomal recessive 65" NARROW [OMIM:610248, OMIM:genemap2] -synonym: "deafness, autosomal recessive 65" NARROW [MONDO:Lexical, OMIM:610248] +synonym: "deafness, autosomal recessive 65" NARROW [MONDO:Lexical, OMIM:610248, OMIM:genemap2] synonym: "DFNB65" NARROW ABBREVIATION [DOID:0110516, MONDO:Lexical, OMIM:610248] xref: DOID:0110516 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110516"} @@ -246678,12 +246571,12 @@ synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMI synonym: "SPG31" EXACT ABBREVIATION [DOID:0110782, MONDO:Lexical, OMIM:610250, Orphanet:101011] xref: DOID:0110782 {source="MONDO:equivalentTo"} xref: GARD:0010817 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101011", source="DOID:0110782", source="ORDO:101011/attributed", source="ORDO:101011/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101011", source="Orphanet:101011/attributed", source="Orphanet:101011/ntbt", source="DOID:0110782"} xref: MESH:C565210 {source="MONDO:equivalentTo"} -xref: OMIM:610250 {source="Orphanet:101011", source="MONDO:equivalentTo", source="DOID:0110782", source="ORDO:101011/e"} +xref: OMIM:610250 {source="Orphanet:101011", source="MONDO:equivalentTo", source="Orphanet:101011/e", source="DOID:0110782"} xref: Orphanet:101011 {source="MONDO:equivalentTo", source="DOID:0110782", source="OMIM:610250"} xref: SCTID:763068005 {source="MONDO:equivalentTo"} -xref: UMLS:C1853247 {source="Orphanet:101011", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610250", source="ORDO:101011/e"} +xref: UMLS:C1853247 {source="Orphanet:101011", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101011/e", source="OMIM:610250"} is_a: MONDO:0017914 {source="Orphanet:101011"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110782", source="MESH:C565210", source="MONDO:Redundant", source="OMIM:610250", source="Orphanet:101011/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia @@ -246728,8 +246621,8 @@ synonym: "chromosome 9Q34.3 deletion syndrome" EXACT [OMIM:610253] synonym: "Kleefstra syndrome" EXACT CLINGEN_PREFERRED [OMIM:610253] xref: DOID:0060352 {source="MONDO:equivalentTo"} xref: GARD:0008672 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:261494", source="ORDO:261494/attributed", source="ORDO:261494/ntbt"} -xref: OMIM:610253 {source="DOID:0060352", source="ORDO:261494/e", source="Orphanet:261494", source="MONDO:superClassOf"} +xref: ICD10CM:Q87.8 {source="Orphanet:261494/attributed", source="Orphanet:261494/ntbt", source="Orphanet:261494"} +xref: OMIM:610253 {source="DOID:0060352", source="Orphanet:261494", source="MONDO:superClassOf", source="Orphanet:261494/e"} xref: OMIMPS:610253 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:261494 {source="DOID:0060352", source="OMIM:610253", source="MONDO:equivalentTo"} xref: UMLS:C4551771 {source="https://github.com/monarch-initiative/mondo/issues/2581"} @@ -246753,16 +246646,16 @@ synonym: "congenital aphakia" EXACT [Orphanet:83461] synonym: "CPA" RELATED ABBREVIATION [OMIM:610256] xref: DOID:11367 {source="MONDO:equivalentTo"} xref: GARD:0009952 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q12.3 {source="Orphanet:83461", source="MONDO:equivalentTo", source="ORDO:83461/specific", source="ORDO:83461/e", source="DOID:11367"} +xref: ICD10CM:Q12.3 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367", source="Orphanet:83461/specific"} xref: ICD9:743.35 {source="MONDO:equivalentTo", source="i2s", source="DOID:11367"} -xref: MedDRA:10002947 {source="Orphanet:83461", source="ORDO:83461/e"} -xref: MESH:C537786 {source="Orphanet:83461", source="MONDO:equivalentTo", source="ORDO:83461/e"} +xref: MedDRA:10002947 {source="Orphanet:83461", source="Orphanet:83461/e"} +xref: MESH:C537786 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e"} xref: NCIT:C35172 {source="MONDO:equivalentTo", source="DOID:11367"} -xref: OMIM:610256 {source="Orphanet:83461", source="MONDO:equivalentTo", source="ORDO:83461/e", source="DOID:11367"} +xref: OMIM:610256 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367"} xref: Orphanet:83461 {source="OMIM:610256", source="MONDO:equivalentTo"} xref: SCTID:35387008 {source="MONDO:equivalentTo", source="DOID:11367"} xref: UMLS:C0152422 {source="NCIT:C35172", source="MONDO:notFoundInDiseaseSubset", source="DOID:11367"} -xref: UMLS:C1853230 {source="Orphanet:83461", source="OMIM:610256", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:83461/e"} +xref: UMLS:C1853230 {source="Orphanet:83461", source="OMIM:610256", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83461/e"} is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lens disorder is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3808 {source="mim2gene_medgen"} ! FOXE3 @@ -246817,8 +246710,7 @@ synonym: "autosomal recessive deafness 67" NARROW [DOID:0110518] synonym: "autosomal recessive nonsyndromic deafness 67" NARROW CLINGEN_PREFERRED [OMIM:610265] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 67" NARROW [DOID:0110518, MONDORULE:2] -synonym: "deafness, autosomal recessive 67" NARROW [OMIM:610265, OMIM:genemap2] -synonym: "deafness, autosomal recessive 67" NARROW [MONDO:Lexical, OMIM:610265] +synonym: "deafness, autosomal recessive 67" NARROW [MONDO:Lexical, OMIM:610265, OMIM:genemap2] synonym: "deafness, autosomal recessive type 67" NARROW [MONDORULE:2, OMIM:610265] synonym: "DFNB67" NARROW ABBREVIATION [DOID:0110518, MONDO:Lexical, OMIM:610265] synonym: "LHFPL5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -246849,7 +246741,7 @@ name: autosomal recessive frontotemporal pachygyria subset: ordo_malformation_syndrome {source="Orphanet:329329"} synonym: "pachygyria, frontotemporal" RELATED [OMIM:610279] xref: GARD:0010003 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:329329", source="ORDO:329329/attributed", source="ORDO:329329/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:329329/attributed", source="Orphanet:329329/ntbt", source="Orphanet:329329"} xref: MESH:C538092 {source="MONDO:equivalentTo"} xref: OMIM:610279 {source="MONDO:equivalentTo"} xref: Orphanet:329329 {source="MONDO:equivalentTo"} @@ -246913,8 +246805,8 @@ synonym: "GPI deficiency" RELATED [OMIM:610293] synonym: "GPID" RELATED ABBREVIATION [OMIM:610293] synonym: "PIGM-CDG" EXACT [Orphanet:83639] xref: GARD:0009965 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:83639/attributed", source="ORDO:83639/ntbt", source="Orphanet:83639"} -xref: OMIM:610293 {source="MONDO:equivalentTo", source="ORDO:83639/e", source="Orphanet:83639"} +xref: ICD10CM:E88.8 {source="Orphanet:83639/attributed", source="Orphanet:83639/ntbt", source="Orphanet:83639"} +xref: OMIM:610293 {source="Orphanet:83639/e", source="MONDO:equivalentTo", source="Orphanet:83639"} xref: Orphanet:83639 {source="MONDO:equivalentTo", source="OMIM:610293"} xref: SCTID:724344004 {source="MONDO:equivalentTo"} xref: UMLS:C1853205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:83639", source="OMIM:610293"} @@ -247113,9 +247005,9 @@ synonym: "RCD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610356] synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical, OMIM:610356] synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356] xref: GARD:0010649 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="MONDO:subClassOf", source="ORDO:209932/attributed", source="ORDO:209932/ntbt", source="Orphanet:209932"} +xref: ICD10CM:H35.5 {source="MONDO:subClassOf", source="Orphanet:209932/attributed", source="Orphanet:209932/ntbt", source="Orphanet:209932"} xref: MESH:C563678 {source="MONDO:equivalentTo"} -xref: OMIM:610356 {source="MONDO:equivalentTo", source="Orphanet:209932", source="ORDO:209932/e"} +xref: OMIM:610356 {source="Orphanet:209932/e", source="MONDO:equivalentTo", source="Orphanet:209932"} xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"} xref: SCTID:719455002 {source="MONDO:equivalentTo"} xref: UMLS:C1835897 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610356"} @@ -247138,9 +247030,9 @@ synonym: "spastic paraplegia 30, autosomal dominant" EXACT [OMIM:610357, OMIM:ge synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357] synonym: "SPG30" EXACT ABBREVIATION [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010] xref: DOID:0110781 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110781", source="ORDO:101010/attributed", source="ORDO:101010/ntbt", source="Orphanet:101010"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:101010/attributed", source="Orphanet:101010/ntbt", source="DOID:0110781", source="Orphanet:101010"} xref: MESH:C563677 {source="MONDO:equivalentTo"} -xref: OMIM:610357 {source="MONDO:equivalentTo", source="DOID:0110781", source="Orphanet:101010", source="ORDO:101010/e"} +xref: OMIM:610357 {source="Orphanet:101010/e", source="MONDO:equivalentTo", source="DOID:0110781", source="Orphanet:101010"} xref: Orphanet:101010 {source="MONDO:equivalentTo", source="OMIM:610357", source="DOID:0110781"} xref: SCTID:763377006 {source="MONDO:equivalentTo"} xref: UMLS:C1835896 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610357", source="Orphanet:101010"} @@ -247204,9 +247096,9 @@ synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:61 synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620] synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060779 {source="MONDO:equivalentTo"} -xref: ICD10CM:P78.3 {source="Orphanet:83620", source="ORDO:83620/attributed", source="ORDO:83620/ntbt", source="DOID:0060779"} +xref: ICD10CM:P78.3 {source="Orphanet:83620/attributed", source="Orphanet:83620/ntbt", source="Orphanet:83620", source="DOID:0060779"} xref: MESH:C563673 {source="MONDO:equivalentTo"} -xref: OMIM:610370 {source="ORDO:83620/e", source="Orphanet:83620", source="MONDO:equivalentTo", source="DOID:0060779"} +xref: OMIM:610370 {source="Orphanet:83620", source="MONDO:equivalentTo", source="Orphanet:83620/e", source="DOID:0060779"} xref: Orphanet:83620 {source="MONDO:equivalentTo", source="DOID:0060779", source="OMIM:610370"} xref: SCTID:722392003 {source="MONDO:equivalentTo"} xref: UMLS:C1835888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610370"} @@ -247258,18 +247150,18 @@ synonym: "MKD" EXACT ABBREVIATION [NCIT:C84890] synonym: "MVA" EXACT ABBREVIATION [Orphanet:29] xref: DOID:0050452 {source="MONDO:equivalentTo"} xref: GARD:0003588 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:29/attributed", source="ORDO:29/ntbt", source="Orphanet:29"} -xref: MedDRA:10072219 {source="Orphanet:29", source="ORDO:29/e"} -xref: MESH:D054078 {source="DOID:0050452", source="Orphanet:29", source="ORDO:29/e"} +xref: ICD10CM:E88.8 {source="Orphanet:29", source="Orphanet:29/attributed", source="Orphanet:29/ntbt"} +xref: MedDRA:10072219 {source="Orphanet:29", source="Orphanet:29/e"} +xref: MESH:D054078 {source="DOID:0050452", source="Orphanet:29", source="Orphanet:29/e"} xref: NCIT:C84890 {source="DOID:0050452", source="MONDO:equivalentTo"} -xref: OMIM:610377 {source="DOID:0050452", source="MONDO:equivalentTo", source="Orphanet:29", source="ORDO:29/e"} +xref: OMIM:610377 {source="DOID:0050452", source="MONDO:equivalentTo", source="Orphanet:29", source="Orphanet:29/e"} xref: Orphanet:29 {source="OMIM:610377", source="MONDO:equivalentTo"} xref: SCTID:124327008 {source="DOID:0050452"} xref: SCTID:234538002 {source="DOID:0050452"} xref: SCTID:718558008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342731 {source="DOID:0050452", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:29", source="ORDO:29/e"} +xref: UMLS:C0342731 {source="DOID:0050452", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:29", source="Orphanet:29/e"} xref: UMLS:C0398691 {source="DOID:0050452", source="MONDO:directSiblingOf"} -xref: UMLS:C1959626 {source="DOID:0050452", source="OMIM:610377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84890", source="Orphanet:29", source="ORDO:29/e"} +xref: UMLS:C1959626 {source="DOID:0050452", source="OMIM:610377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84890", source="Orphanet:29", source="Orphanet:29/e"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84890", source="Orphanet:29/inferred"} ! inherited lipid metabolism disorder is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0017708 {source="Orphanet:29", source="https://clinicalgenome.org/affiliation/40049/"} ! mevalonate kinase deficiency @@ -247287,7 +247179,7 @@ synonym: "West Nile virus, susceptibility to" EXACT [OMIM:610379] synonym: "WNV, susceptibility to" RELATED [OMIM:610379] xref: OMIM:610379 {source="MONDO:equivalentTo"} xref: UMLS:C1835867 {source="NCBI:mim2gene_medline", source="OMIM:610379", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019376 {source="ORDO:83476/btnt"} ! West-Nile encephalitis +is_a: MONDO:0019376 {source="Orphanet:83476/btnt"} ! West-Nile encephalitis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1606 {source="mim2gene_medgen"} ! CCR5 property_value: confidence "28.000000000000053" xsd:double @@ -247336,8 +247228,7 @@ synonym: "autosomal recessive deafness 68" NARROW [DOID:0110519] synonym: "autosomal recessive nonsyndromic deafness 68" NARROW CLINGEN_PREFERRED [OMIM:610419] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 68" NARROW [DOID:0110519, MONDORULE:2] -synonym: "deafness, autosomal recessive 68" NARROW [OMIM:610419, OMIM:genemap2] -synonym: "deafness, autosomal recessive 68" NARROW [MONDO:Lexical, OMIM:610419] +synonym: "deafness, autosomal recessive 68" NARROW [MONDO:Lexical, OMIM:610419, OMIM:genemap2] synonym: "DFNB68" NARROW ABBREVIATION [DOID:0110519, MONDO:Lexical, OMIM:610419] synonym: "S1PR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110519 {source="MONDO:equivalentTo"} @@ -247417,7 +247308,7 @@ xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: UMLS:C1864879 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3808012 {source="MONDO:equivalentTo", source="OMIM:610425"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110271", source="MONDO:Redundant", source="OMIM:610425", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2396 ! CRYBA4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2396 {source="mim2gene_medgen"} ! CRYBA4 @@ -247449,7 +247340,7 @@ synonym: "WM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610430] xref: OMIM:610430 {source="MONDO:equivalentTo"} xref: Orphanet:33226 {source="MONDO:subClassOf", source="OMIM:610430"} xref: UMLS:C1864876 {source="OMIM:610430", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0100280 {source="ORDO:33226/btnt"} ! Waldenstrom macroglobulinemia +is_a: MONDO:0100280 {source="Orphanet:33226/btnt"} ! Waldenstrom macroglobulinemia property_value: confidence "0.33333333333333326" xsd:double [Term] @@ -247510,11 +247401,11 @@ synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" EXACT [OMIM:610442] synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:168454] xref: DOID:0080576 {source="MONDO:equivalentTo"} xref: GARD:0010057 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="Orphanet:168454", source="ORDO:168454/attributed", source="ORDO:168454/ntbt"} -xref: MESH:C535785 {source="ORDO:168454/e", source="Orphanet:168454", source="MONDO:equivalentTo"} -xref: OMIM:610442 {source="ORDO:168454/e", source="Orphanet:168454", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.7 {source="Orphanet:168454/attributed", source="Orphanet:168454/ntbt", source="Orphanet:168454"} +xref: MESH:C535785 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} +xref: OMIM:610442 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"} -xref: UMLS:C1864872 {source="ORDO:168454/e", source="Orphanet:168454", source="NCBI:mim2gene_medline", source="OMIM:610442", source="MONDO:equivalentTo"} +xref: UMLS:C1864872 {source="Orphanet:168454", source="NCBI:mim2gene_medline", source="OMIM:610442", source="MONDO:equivalentTo", source="Orphanet:168454/e"} is_a: MONDO:0016761 {source="DC-OMIM:610442", source="Orphanet:168454"} ! spondyloepiphyseal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19237 {source="mim2gene_medgen"} ! NANS relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -247542,9 +247433,9 @@ synonym: "microdeletion 17q21.31 syndrome" EXACT [DOID:0070076] xref: DOID:0050880 {source="MONDO:superClassOf"} xref: DOID:0070076 {source="MONDO:superClassOf"} xref: GARD:0010727 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:96169", source="ORDO:96169/attributed", source="ORDO:96169/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96169", source="Orphanet:96169/attributed", source="Orphanet:96169/ntbt"} xref: MESH:C566476 {source="MONDO:superClassOf", source="https://github.com/monarch-initiative/mondo/issues/4174", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:610443 {source="DOID:0070076", source="DOID:0050880", source="ORDO:96169/e", source="Orphanet:96169", source="MONDO:equivalentTo"} +xref: OMIM:610443 {source="DOID:0070076", source="DOID:0050880", source="Orphanet:96169", source="MONDO:equivalentTo", source="Orphanet:96169/e"} xref: Orphanet:96169 {source="DOID:0050880", source="OMIM:610443", source="MONDO:equivalentTo"} xref: SCTID:717338006 {source="MONDO:superClassOf"} xref: UMLS:C1864871 {source="Orphanet:96169", source="OMIM:610443", source="NCBI:mim2gene_medline", source="MONDO:superClassOf"} @@ -247659,9 +247550,9 @@ synonym: "tumoral calcinosis, familial, normophosphatemic" EXACT [OMIM:610455, O synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical, OMIM:610455] xref: DOID:0080170 {source="MONDO:equivalentTo"} xref: GARD:0010878 {source="MONDO:equivalentTo"} -xref: ICD10CM:M11.2 {source="Orphanet:306658", source="ORDO:306658/attributed", source="ORDO:306658/ntbt"} +xref: ICD10CM:M11.2 {source="Orphanet:306658/attributed", source="Orphanet:306658/ntbt", source="Orphanet:306658"} xref: MESH:C566473 {source="MONDO:equivalentTo"} -xref: OMIM:610455 {source="ORDO:306658/e", source="Orphanet:306658", source="MONDO:equivalentTo", source="DOID:0080170"} +xref: OMIM:610455 {source="Orphanet:306658", source="MONDO:equivalentTo", source="Orphanet:306658/e", source="DOID:0080170"} xref: Orphanet:306658 {source="MONDO:equivalentTo", source="OMIM:610455"} xref: Orphanet:53715 {source="MONDO:subClassOf", source="OMIM:610455"} xref: UMLS:C1864861 {source="Orphanet:306658", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610455"} @@ -247715,9 +247606,9 @@ synonym: "CATSHL syndrome" EXACT [DOID:0111160, GARD:0010012, OMIM:610474, Orpha synonym: "CATSHLS" RELATED ABBREVIATION [OMIM:610474] xref: DOID:0111160 {source="MONDO:equivalentTo"} xref: GARD:0010012 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:85164/attributed", source="ORDO:85164/ntbt", source="Orphanet:85164"} +xref: ICD10CM:Q87.2 {source="Orphanet:85164/attributed", source="Orphanet:85164/ntbt", source="Orphanet:85164"} xref: MESH:C537975 {source="MONDO:equivalentTo"} -xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="MONDO:equivalentTo", source="ORDO:85164/e", source="Orphanet:85164"} +xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="Orphanet:85164/e", source="MONDO:equivalentTo", source="Orphanet:85164"} xref: Orphanet:85164 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="MONDO:equivalentTo"} xref: UMLS:C1864852 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85164"} is_a: MONDO:0000429 {source="DOID:0111160"} ! autosomal genetic disease @@ -247771,7 +247662,7 @@ xref: OMIM:610476 {source="DOID:0110082", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:610476"} xref: UMLS:C1864850 {source="OMIM:610476", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3552311 {source="OMIM:610476", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016342 {source="DOID:0110082", source="MESH:C566471", source="MONDO:Redundant", source="OMIM:610476", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110082", source="MESH:C566471", source="MONDO:Redundant", source="OMIM:610476", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3036 ! DSC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3036 {source="mim2gene_medgen"} ! DSC2 @@ -247808,9 +247699,9 @@ def: "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrom subset: ordo_malformation_syndrome {source="Orphanet:83617"} synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [OMIM:610483] xref: GARD:0010011 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:83617/attributed", source="ORDO:83617/ntbt", source="Orphanet:83617"} +xref: ICD10CM:Q87.0 {source="Orphanet:83617/attributed", source="Orphanet:83617/ntbt", source="Orphanet:83617"} xref: MESH:C538055 {source="MONDO:equivalentTo"} -xref: OMIM:610483 {source="MONDO:equivalentTo", source="ORDO:83617/e", source="Orphanet:83617"} +xref: OMIM:610483 {source="Orphanet:83617/e", source="MONDO:equivalentTo", source="Orphanet:83617"} xref: Orphanet:83617 {source="OMIM:610483", source="MONDO:equivalentTo"} xref: SCTID:722281001 {source="MONDO:equivalentTo"} xref: UMLS:C1864848 {source="OMIM:610483", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -247856,9 +247747,9 @@ synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidos synonym: "COXPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610498, Orphanet:254920] synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111483 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:254920/attributed", source="ORDO:254920/ntbt", source="Orphanet:254920"} +xref: ICD10CM:E88.8 {source="Orphanet:254920", source="Orphanet:254920/attributed", source="Orphanet:254920/ntbt"} xref: MESH:C566468 {source="MONDO:equivalentTo"} -xref: OMIM:610498 {source="MONDO:equivalentTo", source="ORDO:254920/e", source="Orphanet:254920"} +xref: OMIM:610498 {source="MONDO:equivalentTo", source="Orphanet:254920", source="Orphanet:254920/e"} xref: Orphanet:254920 {source="OMIM:610498", source="MONDO:equivalentTo"} xref: SCTID:764943000 {source="MONDO:equivalentTo"} xref: UMLS:C1864843 {source="OMIM:610498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:254920"} @@ -247901,9 +247792,9 @@ synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [ synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566] synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111486 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:168566", source="ORDO:168566/attributed", source="ORDO:168566/ntbt"} +xref: ICD10CM:E88.8 {source="Orphanet:168566/attributed", source="Orphanet:168566/ntbt", source="Orphanet:168566"} xref: MESH:C566467 {source="MONDO:equivalentTo"} -xref: OMIM:610505 {source="ORDO:168566/e", source="Orphanet:168566", source="MONDO:equivalentTo"} +xref: OMIM:610505 {source="Orphanet:168566", source="MONDO:equivalentTo", source="Orphanet:168566/e"} xref: Orphanet:168566 {source="MONDO:equivalentTo", source="OMIM:610505"} xref: SCTID:720951008 {source="MONDO:equivalentTo"} xref: UMLS:C1864840 {source="NCBI:mim2gene_medline", source="Orphanet:168566", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610505"} @@ -247960,10 +247851,10 @@ synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:61053 synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532] xref: DOID:0060793 {source="MONDO:equivalentTo"} xref: GARD:0011980 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G37.8 {source="ORDO:85163/attributed", source="ORDO:85163/ntbt", source="DOID:0060793", source="Orphanet:85163"} +xref: ICD10CM:G37.8 {source="DOID:0060793", source="Orphanet:85163/attributed", source="Orphanet:85163/ntbt", source="Orphanet:85163"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567166 {source="MONDO:equivalentTo"} -xref: OMIM:610532 {source="DOID:0060793", source="MONDO:equivalentTo", source="ORDO:85163/e", source="Orphanet:85163"} +xref: OMIM:610532 {source="Orphanet:85163/e", source="DOID:0060793", source="MONDO:equivalentTo", source="Orphanet:85163"} xref: Orphanet:85163 {source="DOID:0060793", source="MONDO:equivalentTo", source="OMIM:610532"} xref: SCTID:702379005 {source="MONDO:equivalentTo"} xref: UMLS:C1864663 {source="MONDO:equivalentTo", source="OMIM:610532", source="Orphanet:85163"} @@ -247987,7 +247878,7 @@ xref: MESH:C566436 {source="MONDO:equivalentTo"} xref: OMIM:610535 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="MONDO:subClassOf", source="OMIM:610535"} xref: UMLS:C1864653 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610535"} -is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma +is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -248007,9 +247898,9 @@ synonym: "MFDM" RELATED ABBREVIATION [GARD:0010056] synonym: "MFDM syndrome" EXACT [Orphanet:79113] xref: DOID:0080196 {source="MONDO:equivalentTo"} xref: GARD:0010056 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:79113/attributed", source="ORDO:79113/ntbt", source="Orphanet:79113"} +xref: ICD10CM:Q87.0 {source="Orphanet:79113/attributed", source="Orphanet:79113/ntbt", source="Orphanet:79113"} xref: MESH:C537405 {source="MONDO:equivalentTo"} -xref: OMIM:610536 {source="DOID:0080196", source="MONDO:equivalentTo", source="ORDO:79113/e", source="Orphanet:79113"} +xref: OMIM:610536 {source="DOID:0080196", source="Orphanet:79113/e", source="MONDO:equivalentTo", source="Orphanet:79113"} xref: Orphanet:79113 {source="MONDO:equivalentTo", source="OMIM:610536"} xref: SCTID:711543008 {source="MONDO:equivalentTo"} xref: UMLS:C1864652 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610536", source="Orphanet:79113"} @@ -248037,9 +247928,9 @@ synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM: synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110961 {source="MONDO:equivalentTo"} xref: GARD:0012503 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:309252", source="ORDO:309252/attributed", source="ORDO:309252/ntbt", source="DOID:0110961"} +xref: ICD10CM:E75.2 {source="Orphanet:309252/attributed", source="Orphanet:309252/ntbt", source="Orphanet:309252", source="DOID:0110961"} xref: MESH:C566435 {source="MONDO:equivalentTo"} -xref: OMIM:610539 {source="Orphanet:309252", source="ORDO:309252/e", source="MONDO:equivalentTo", source="DOID:0110961"} +xref: OMIM:610539 {source="Orphanet:309252", source="MONDO:equivalentTo", source="Orphanet:309252/e", source="DOID:0110961"} xref: Orphanet:309252 {source="MONDO:equivalentTo", source="OMIM:610539", source="DOID:0110961"} xref: Orphanet:355 {source="MONDO:subClassOf", source="OMIM:610539"} xref: UMLS:C1864651 {source="Orphanet:309252", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610539"} @@ -248069,7 +247960,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:610542"} xref: UMLS:C1864649 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3552335 {source="OMIM:610542", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000182 {source="DC-OMIM:610542", source="OMIM:610542"} ! congenital myasthenic syndrome with tubular aggregates -is_a: MONDO:0018144 {source="MONDO:Redundant", source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect +is_a: MONDO:0018144 {source="MONDO:Redundant", source="Orphanet:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect intersection_of: MONDO:0018144 ! congenital myasthenic syndromes with glycosylation defect intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4241 ! GFPT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4241 {source="mim2gene_medgen"} ! GFPT1 @@ -248088,8 +247979,8 @@ synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [OMIM:610543] synonym: "Rsts deletion syndrome" RELATED [OMIM:610543] synonym: "Rubinstein-Taybi deletion syndrome" RELATED [OMIM:610543] xref: GARD:0010754 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:353281/attributed", source="ORDO:353281/ntbt", source="Orphanet:353281"} -xref: OMIM:610543 {source="MONDO:equivalentTo", source="GARD:0010754", source="ORDO:353281/e", source="Orphanet:353281"} +xref: ICD10CM:Q87.2 {source="Orphanet:353281/attributed", source="Orphanet:353281/ntbt", source="Orphanet:353281"} +xref: OMIM:610543 {source="Orphanet:353281/e", source="MONDO:equivalentTo", source="GARD:0010754", source="Orphanet:353281"} xref: Orphanet:353281 {source="MONDO:equivalentTo", source="OMIM:610543"} xref: Orphanet:783 {source="MONDO:subClassOf", source="OMIM:610543"} xref: UMLS:C1864648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610543"} @@ -248117,14 +248008,14 @@ synonym: "Iran, type a" RELATED [OMIM:610549] synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836] xref: EFO:1001503 {source="MONDO:equivalentTo"} xref: GARD:0003008 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E13 {source="Orphanet:2297", source="ORDO:2297/attributed", source="ORDO:2297/ntbt"} +xref: ICD10CM:E13 {source="Orphanet:2297", source="Orphanet:2297/attributed", source="Orphanet:2297/ntbt"} xref: MESH:C562710 {source="MONDO:equivalentTo"} xref: NCIT:C131836 {source="MONDO:equivalentTo"} -xref: OMIM:610549 {source="Orphanet:2297", source="MONDO:equivalentTo", source="ORDO:2297/e"} +xref: OMIM:610549 {source="Orphanet:2297", source="MONDO:equivalentTo", source="Orphanet:2297/e"} xref: Orphanet:2297 {source="MONDO:equivalentTo", source="OMIM:610549"} xref: UMLS:C0271690 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0342278 {source="Orphanet:2297", source="NCIT:C131836", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610549"} -xref: UMLS:C0342336 {source="Orphanet:2297", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2297/e"} +xref: UMLS:C0342336 {source="Orphanet:2297", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2297/e"} is_a: MONDO:0001933 {source="MONDO:Redundant", source="NCIT:C131836", source="indirect"} ! endocrine pancreas disorder is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6091 {source="mim2gene_medgen"} ! INSR @@ -248146,15 +248037,15 @@ synonym: "HSVE" EXACT ABBREVIATION [Orphanet:1930] synonym: "Simplexvirus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus infectious encephalitis" EXACT [] xref: GARD:0006649 {source="MONDO:equivalentTo"} -xref: ICD10EXP:B00.4+ {source="Orphanet:1930", source="ORDO:1930/e", source="ORDO:1930/specific"} -xref: ICD10EXP:G05.1* {source="Orphanet:1930", source="ORDO:1930/e", source="ORDO:1930/specific"} +xref: ICD10EXP:B00.4+ {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"} +xref: ICD10EXP:G05.1* {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"} xref: MESH:D020803 {source="MONDO:equivalentTo"} xref: NCIT:C84762 {source="MONDO:equivalentTo"} -xref: OMIM:610551 {source="Orphanet:1930", source="MONDO:superClassOf", source="ORDO:1930/e"} -xref: OMIM:613002 {source="ORDO:1930/btnt", source="Orphanet:1930", source="MONDO:superClassOf"} -xref: OMIM:614849 {source="ORDO:1930/btnt", source="Orphanet:1930", source="MONDO:superClassOf"} -xref: OMIM:614850 {source="ORDO:1930/btnt", source="Orphanet:1930", source="MONDO:superClassOf"} -xref: OMIM:616532 {source="ORDO:1930/btnt", source="Orphanet:1930", source="MONDO:superClassOf"} +xref: OMIM:610551 {source="Orphanet:1930", source="MONDO:superClassOf", source="Orphanet:1930/e"} +xref: OMIM:613002 {source="Orphanet:1930", source="MONDO:superClassOf", source="Orphanet:1930/btnt"} +xref: OMIM:614849 {source="Orphanet:1930", source="MONDO:superClassOf", source="Orphanet:1930/btnt"} +xref: OMIM:614850 {source="Orphanet:1930", source="MONDO:superClassOf", source="Orphanet:1930/btnt"} +xref: OMIM:616532 {source="Orphanet:1930", source="MONDO:superClassOf", source="Orphanet:1930/btnt"} xref: Orphanet:1930 {source="OMIM:610551", source="MONDO:equivalentTo"} xref: UMLS:C0019385 {source="Orphanet:1930", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0276226 {source="Orphanet:1930", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C84762"} @@ -248229,7 +248120,7 @@ xref: OMIM:610600 {source="MONDO:equivalentTo"} xref: Orphanet:427 {source="MONDO:subClassOf", source="OMIM:610600"} xref: Orphanet:99763 {source="MONDO:subClassOf", source="OMIM:610600"} xref: UMLS:C3463917 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610600"} -is_a: MONDO:0020489 {source="ORDO:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1 +is_a: MONDO:0020489 {source="Orphanet:99763/btnt"} ! familial hyperreninemic hypoaldosteronism type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2592 {source="mim2gene_medgen"} ! CYP11B2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.5167548500881836" xsd:double @@ -248284,15 +248175,15 @@ synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-associated angioneurotic edema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioneurotic edema" EXACT [Orphanet:100054] -xref: ICD10CM:D84.1 {source="Orphanet:100054", source="ORDO:100054/attributed", source="ORDO:100054/ntbt"} +xref: ICD10CM:D84.1 {source="Orphanet:100054", source="Orphanet:100054/attributed", source="Orphanet:100054/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D056828 {source="Orphanet:100054", source="MONDO:equivalentTo", source="ORDO:100054/e"} -xref: OMIM:610618 {source="Orphanet:100054", source="MONDO:equivalentTo", source="ORDO:100054/e"} +xref: MESH:D056828 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"} +xref: OMIM:610618 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"} xref: Orphanet:100054 {source="MONDO:equivalentTo", source="OMIM:610618"} xref: Orphanet:91378 {source="MONDO:subClassOf", source="OMIM:610618"} xref: SCTID:427167008 {source="MONDO:equivalentTo"} -xref: UMLS:C1857728 {source="Orphanet:100054", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610618", source="ORDO:100054/e"} -xref: UMLS:C1960459 {source="Orphanet:100054", source="MONDO:notFoundInDiseaseSubset", source="ORDO:100054/e"} +xref: UMLS:C1857728 {source="Orphanet:100054", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100054/e", source="OMIM:610618"} +xref: UMLS:C1960459 {source="Orphanet:100054", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100054/e"} is_a: MONDO:0033947 {source="DC-OMIM:610618", source="MESH:D056828", source="MONDO:Redundant", source="Orphanet:100054"} ! hereditary angioedema with normal C1Inh intersection_of: MONDO:0019623 ! hereditary angioedema intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3530 ! F12 @@ -248326,7 +248217,7 @@ xref: Orphanet:98993 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: UMLS:C1864567 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610623"} xref: UMLS:C3808029 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610623"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110249", source="MESH:C535344", source="MONDO:Redundant", source="OMIM:610623", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9006 ! PITX3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9006 {source="mim2gene_medgen"} ! PITX3 @@ -248354,7 +248245,7 @@ xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:610628"} xref: UMLS:C1857720 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3552343 {source="MONDO:equivalentTo", source="OMIM:610628"} is_a: MONDO:0018555 {source="DOID:0090077", source="MONDO:0012528/inferred", source="MONDO:Redundant", source="OMIM:610628", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="MESH:C565696", source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="MESH:C565696", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18455 ! PROK2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18455 {source="mim2gene_medgen"} ! PROK2 @@ -248391,9 +248282,9 @@ synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [OMIM:61 synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [OMIM:610644] synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" EXACT [OMIM:610644, OMIM:genemap2] synonym: "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" EXACT [Orphanet:85112] -xref: ICD10CM:Q56.0 {source="Orphanet:85112", source="ORDO:85112/attributed", source="ORDO:85112/ntbt"} +xref: ICD10CM:Q56.0 {source="Orphanet:85112", source="Orphanet:85112/attributed", source="Orphanet:85112/ntbt"} xref: MESH:C567165 {source="MONDO:equivalentTo"} -xref: OMIM:610644 {source="Orphanet:85112", source="MONDO:equivalentTo", source="ORDO:85112/e"} +xref: OMIM:610644 {source="Orphanet:85112", source="MONDO:equivalentTo", source="Orphanet:85112/e"} xref: Orphanet:85112 {source="MONDO:equivalentTo", source="OMIM:610644"} xref: UMLS:C2674504 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610644"} xref: UMLS:C3149931 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610644"} @@ -248436,7 +248327,7 @@ xref: Orphanet:910 {source="MONDO:subClassOf", source="OMIM:610651"} xref: SCTID:1073003 {source="MONDO:equivalentTo"} xref: UMLS:C0268136 {source="OMIM:610651", source="MONDO:equivalentTo", source="NCIT:C3966"} xref: UMLS:C1970808 {source="NCBI:mim2gene_medline", source="OMIM:610651", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex +is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MESH:C562590", source="MONDO:Redundant", source="NCIT:C3966", source="linkedlifedata"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3435 ! ERCC3 @@ -248486,9 +248377,9 @@ synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE synonym: "COXPD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610678, Orphanet:254925] synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111494 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:254925", source="ORDO:254925/attributed", source="ORDO:254925/ntbt"} +xref: ICD10CM:E88.8 {source="Orphanet:254925/attributed", source="Orphanet:254925/ntbt", source="Orphanet:254925"} xref: MESH:C565690 {source="MONDO:equivalentTo"} -xref: OMIM:610678 {source="MONDO:equivalentTo", source="Orphanet:254925", source="ORDO:254925/e"} +xref: OMIM:610678 {source="Orphanet:254925/e", source="MONDO:equivalentTo", source="Orphanet:254925"} xref: Orphanet:254925 {source="MONDO:equivalentTo", source="OMIM:610678"} xref: SCTID:766876004 {source="MONDO:equivalentTo"} xref: UMLS:C1857682 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610678", source="Orphanet:254925"} @@ -248550,7 +248441,7 @@ xref: MESH:C565199 {source="MONDO:equivalentTo"} xref: OMIM:610685 {source="MONDO:equivalentTo"} xref: Orphanet:3329 {source="MONDO:subClassOf", source="OMIM:610685"} xref: UMLS:C1853156 {source="OMIM:610685", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018050 {source="ORDO:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome +is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome property_value: confidence "2.659611992945326" xsd:double [Term] @@ -248568,7 +248459,7 @@ xref: MESH:C565198 {source="MONDO:equivalentTo"} xref: OMIM:610687 {source="DOID:0110934", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:610687"} xref: UMLS:C1853154 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610687"} -is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy +is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110934", source="MESH:C565198", source="MONDO:Redundant", source="OMIM:610687", source="indirect"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1875 ! CFL2 @@ -248632,15 +248523,15 @@ synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdo synonym: "LAMM syndrome" EXACT [Orphanet:90024] synonym: "microdontia-type I microtia-deafness syndrome" EXACT [Orphanet:90024] xref: GARD:0010707 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q16.5 {source="ORDO:90024/attributed", source="ORDO:90024/ntbt", source="Orphanet:90024"} +xref: ICD10CM:Q16.5 {source="Orphanet:90024", source="Orphanet:90024/attributed", source="Orphanet:90024/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C548011 {source="ORDO:90024/e", source="Orphanet:90024"} +xref: MESH:C548011 {source="Orphanet:90024", source="Orphanet:90024/e"} xref: MESH:C565195 {source="MONDO:equivalentTo"} -xref: OMIM:610706 {source="ORDO:90024/e", source="MONDO:equivalentTo", source="Orphanet:90024"} +xref: OMIM:610706 {source="MONDO:equivalentTo", source="Orphanet:90024", source="Orphanet:90024/e"} xref: Orphanet:90024 {source="MONDO:equivalentTo", source="OMIM:610706"} xref: SCTID:702360007 {source="MONDO:equivalentTo"} xref: UMLS:C1853144 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90024", source="OMIM:610706"} -xref: UMLS:C2932664 {source="ORDO:90024/e", source="Orphanet:90024", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2932664 {source="Orphanet:90024", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90024/e"} is_a: MONDO:0003847 {source="Orphanet:90024/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0019589 {source="Orphanet:90024"} ! syndromic genetic hearing loss relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3681 {source="mim2gene_medgen"} ! FGF3 @@ -248686,9 +248577,9 @@ synonym: "brachydactyly-syndactyly syndrome" EXACT [OMIM:610713] synonym: "brachydactyly-syndactyly, Zhao type" RELATED [Orphanet:93409] synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [OMIM:610713] xref: DOID:0050689 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="ORDO:93409/attributed", source="ORDO:93409/ntbt", source="Orphanet:93409"} +xref: ICD10CM:Q73.8 {source="Orphanet:93409/attributed", source="Orphanet:93409/ntbt", source="Orphanet:93409"} xref: MESH:C565193 {source="MONDO:equivalentTo"} -xref: OMIM:610713 {source="DOID:0050689", source="MONDO:equivalentTo", source="ORDO:93409/e", source="Orphanet:93409"} +xref: OMIM:610713 {source="Orphanet:93409/e", source="DOID:0050689", source="MONDO:equivalentTo", source="Orphanet:93409"} xref: Orphanet:93409 {source="MONDO:equivalentTo", source="OMIM:610713"} xref: UMLS:C1853137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610713"} is_a: MONDO:0000429 {source="DOID:0050689"} ! autosomal genetic disease @@ -248705,8 +248596,8 @@ synonym: "neutral lipid storage disease without ichthyosis" RELATED [OMIM:610717 synonym: "NLSDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610717, Orphanet:98908] synonym: "triglyceride deposit cardiomyovasculopathy" EXACT [Orphanet:98908] xref: GARD:0010288 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.5 {source="ORDO:98908/attributed", source="ORDO:98908/ntbt", source="Orphanet:98908"} -xref: OMIM:610717 {source="MONDO:equivalentTo", source="ORDO:98908/e", source="Orphanet:98908"} +xref: ICD10CM:E75.5 {source="Orphanet:98908/attributed", source="Orphanet:98908/ntbt", source="Orphanet:98908"} +xref: OMIM:610717 {source="Orphanet:98908/e", source="MONDO:equivalentTo", source="Orphanet:98908"} xref: Orphanet:98908 {source="MONDO:equivalentTo", source="OMIM:610717"} xref: SCTID:699315005 {source="MONDO:equivalentTo"} xref: UMLS:C1853136 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610717", source="Orphanet:98908"} @@ -248773,8 +248664,8 @@ synonym: "SCN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610738] synonym: "severe congenital neutropenia autosomal recessive 3" RELATED [GARD:0000302] synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749] xref: GARD:0000302 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="ORDO:99749/ntbt", source="Orphanet:99749", source="ORDO:99749/inclusion"} -xref: OMIM:610738 {source="ORDO:99749/e", source="MONDO:equivalentTo", source="Orphanet:99749"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:99749/inclusion", source="Orphanet:99749", source="Orphanet:99749/ntbt"} +xref: OMIM:610738 {source="MONDO:equivalentTo", source="Orphanet:99749", source="Orphanet:99749/e"} xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"} xref: UMLS:C1853118 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610738"} xref: UMLS:CN032247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -248804,8 +248695,8 @@ synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1 synonym: "SYNE1-related autosomal recessive cerebellar ataxia" RELATED [GARD:0012234] xref: DOID:0111618 {source="MONDO:equivalentTo"} xref: GARD:0012234 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.2 {source="Orphanet:88644", source="ORDO:88644/attributed", source="ORDO:88644/ntbt"} -xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="ORDO:88644/e"} +xref: ICD10CM:G11.2 {source="Orphanet:88644/attributed", source="Orphanet:88644/ntbt", source="Orphanet:88644"} +xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="Orphanet:88644/e"} xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"} xref: UMLS:C1853116 {source="Orphanet:88644", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610743"} xref: UMLS:C3683483 {source="Orphanet:88644", source="MONDO:equivalentTo"} @@ -248832,7 +248723,7 @@ xref: Orphanet:700 {source="MONDO:subClassOf", source="OMIM:610753"} xref: Orphanet:701 {source="OMIM:610753", source="MONDO:directSiblingOf"} xref: UMLS:C1853104 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610753"} is_a: MONDO:0000005 {source="MONDO:Redundant", source="OMIM:610753", source="indirect"} ! alopecia, isolated -is_a: MONDO:0019080 {source="ORDO:700/btnt"} ! alopecia totalis +is_a: MONDO:0019080 {source="Orphanet:700/btnt"} ! alopecia totalis property_value: confidence "1.1064814814814814" xsd:double [Term] @@ -248847,10 +248738,10 @@ synonym: "multiple endocrine neoplasia type 4" EXACT CLINGEN_PREFERRED [] synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755] synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755] xref: DOID:0080137 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="ORDO:276152/attributed", source="ORDO:276152/ntbt", source="Orphanet:276152"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:276152/attributed", source="Orphanet:276152/ntbt", source="Orphanet:276152"} xref: MESH:C567059 {source="MONDO:equivalentTo"} xref: NCIT:C157449 {source="MONDO:equivalentTo"} -xref: OMIM:610755 {source="MONDO:equivalentTo", source="DOID:0080137", source="Orphanet:276152", source="ORDO:276152/e"} +xref: OMIM:610755 {source="Orphanet:276152/e", source="MONDO:equivalentTo", source="DOID:0080137", source="Orphanet:276152"} xref: Orphanet:276152 {source="MONDO:equivalentTo", source="OMIM:610755"} xref: SCTID:715907003 {source="MONDO:equivalentTo"} xref: UMLS:C1970712 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610755", source="Orphanet:276152"} @@ -248949,9 +248840,9 @@ synonym: "DOLK-CDG (CDG-Im)" RELATED [GARD:0012393] synonym: "hypotonia and ichthyosis due to dolichol phosphate deficiency" EXACT [Orphanet:91131] xref: DOID:0080565 {source="MONDO:equivalentTo"} xref: GARD:0012393 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:91131", source="ORDO:91131/attributed", source="ORDO:91131/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:91131", source="Orphanet:91131/attributed", source="Orphanet:91131/ntbt"} xref: MESH:C563666 {source="MONDO:equivalentTo"} -xref: OMIM:610768 {source="ORDO:91131/e", source="Orphanet:91131", source="MONDO:equivalentTo"} +xref: OMIM:610768 {source="Orphanet:91131", source="MONDO:equivalentTo", source="Orphanet:91131/e"} xref: Orphanet:91131 {source="MONDO:equivalentTo", source="OMIM:610768"} xref: SCTID:718712005 {source="MONDO:equivalentTo"} xref: UMLS:C1835849 {source="Orphanet:91131", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610768"} @@ -248975,9 +248866,9 @@ subset: ordo_disease {source="Orphanet:91130"} synonym: "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" EXACT [] synonym: "mitochondrial phosphate carrier deficiency" RELATED [OMIM:610773] synonym: "Mpcd" RELATED [OMIM:610773] -xref: ICD10CM:G71.3 {source="Orphanet:91130", source="ORDO:91130/attributed", source="ORDO:91130/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:91130/attributed", source="Orphanet:91130/ntbt", source="Orphanet:91130"} xref: MESH:C563665 {source="MONDO:equivalentTo"} -xref: OMIM:610773 {source="Orphanet:91130", source="MONDO:equivalentTo", source="ORDO:91130/e"} +xref: OMIM:610773 {source="Orphanet:91130", source="MONDO:equivalentTo", source="Orphanet:91130/e"} xref: Orphanet:91130 {source="OMIM:610773", source="MONDO:equivalentTo"} xref: SCTID:718713000 {source="MONDO:equivalentTo"} xref: UMLS:C1835845 {source="Orphanet:91130", source="OMIM:610773", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -249009,9 +248900,9 @@ synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [ synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [OMIM:610798] synonym: "primary immunodeficiency syndrome due to LAMTOR2 deficiency" EXACT [Orphanet:90023] synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023] -xref: ICD10CM:D82.8 {source="Orphanet:90023", source="ORDO:90023/attributed", source="ORDO:90023/ntbt"} +xref: ICD10CM:D82.8 {source="Orphanet:90023", source="Orphanet:90023/attributed", source="Orphanet:90023/ntbt"} xref: MESH:C563663 {source="MONDO:equivalentTo"} -xref: OMIM:610798 {source="ORDO:90023/e", source="MONDO:equivalentTo", source="Orphanet:90023"} +xref: OMIM:610798 {source="MONDO:equivalentTo", source="Orphanet:90023", source="Orphanet:90023/e"} xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"} xref: SCTID:718717004 {source="MONDO:equivalentTo"} xref: UMLS:C1835829 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90023", source="OMIM:610798"} @@ -249182,7 +249073,7 @@ synonym: "myxomatous mitral valve prolapse 3" RELATED [OMIM:610840] xref: MESH:C563655 {source="MONDO:equivalentTo"} xref: OMIM:610840 {source="MONDO:equivalentTo"} xref: UMLS:C1835814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610840"} -is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:610840", source="ORDO:741/btnt", source="indirect"} ! familial mitral valve prolapse +is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:610840", source="Orphanet:741/btnt", source="indirect"} ! familial mitral valve prolapse property_value: confidence "2.471428571428572" xsd:double [Term] @@ -249194,9 +249085,9 @@ synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation facto synonym: "pseudoxanthoma elasticum-like syndrome" EXACT [Orphanet:91135] synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [OMIM:610842] synonym: "PXE-like syndrome" EXACT [Orphanet:91135] -xref: ICD10CM:D68.4 {source="ORDO:91135/attributed", source="ORDO:91135/ntbt", source="Orphanet:91135"} +xref: ICD10CM:D68.4 {source="Orphanet:91135", source="Orphanet:91135/attributed", source="Orphanet:91135/ntbt"} xref: MESH:C563654 {source="MONDO:equivalentTo"} -xref: OMIM:610842 {source="ORDO:91135/e", source="MONDO:equivalentTo", source="Orphanet:91135"} +xref: OMIM:610842 {source="MONDO:equivalentTo", source="Orphanet:91135", source="Orphanet:91135/e"} xref: Orphanet:91135 {source="MONDO:equivalentTo", source="OMIM:610842"} xref: SCTID:717941005 {source="MONDO:equivalentTo"} xref: UMLS:C1835813 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:91135", source="OMIM:610842"} @@ -249255,7 +249146,7 @@ xref: MESH:C567053 {source="MONDO:equivalentTo"} xref: OMIM:610878 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:610878"} xref: UMLS:C1970483 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610878"} -is_a: MONDO:0017329 {source="MESH:C567053", source="MONDO:Redundant", source="OMIM:610878", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MESH:C567053", source="MONDO:Redundant", source="OMIM:610878", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux intersection_of: MONDO:0017329 ! familial vesicoureteral reflux intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10250 ! ROBO2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10250 {source="mim2gene_medgen"} ! ROBO2 @@ -249278,13 +249169,13 @@ synonym: "PTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610883] synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713] xref: DOID:0060853 {source="MONDO:equivalentTo"} xref: GARD:0010145 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536578 {source="DOID:0060853", source="ORDO:1713/e", source="Orphanet:1713"} +xref: MESH:C536578 {source="Orphanet:1713/e", source="DOID:0060853", source="Orphanet:1713"} xref: NCIT:C124846 {source="MONDO:equivalentTo"} -xref: OMIM:610883 {source="DOID:0060853", source="MONDO:equivalentTo", source="ORDO:1713/e", source="Orphanet:1713"} +xref: OMIM:610883 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"} xref: Orphanet:1713 {source="OMIM:610883", source="DOID:0060853", source="MONDO:equivalentTo"} xref: SCTID:734016004 {source="MONDO:equivalentTo"} xref: UMLS:C1970482 {source="OMIM:610883", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1713", source="NCIT:C124846"} -xref: UMLS:C2931246 {source="DOID:0060853", source="MONDO:equivalentTo", source="ORDO:1713/e", source="Orphanet:1713"} +xref: UMLS:C2931246 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"} is_a: MONDO:0000508 {source="Orphanet:1713"} ! syndromic intellectual disability is_a: MONDO:0000762 {source="DOID:0060853"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124846", source="indirect"} ! syndromic disease @@ -249323,7 +249214,7 @@ xref: OMIM:610898 {source="MONDO:equivalentTo"} xref: Orphanet:240071 {source="MONDO:subClassOf", source="OMIM:610898"} xref: Orphanet:683 {source="MONDO:subClassOf", source="OMIM:610898"} xref: UMLS:C1970476 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610898"} -is_a: MONDO:0019037 {source="OMIM:610898", source="ORDO:240071/btnt"} ! progressive supranuclear palsy +is_a: MONDO:0019037 {source="OMIM:610898", source="Orphanet:240071/btnt"} ! progressive supranuclear palsy property_value: confidence "2.3412500000000014" xsd:double [Term] @@ -249374,9 +249265,9 @@ synonym: "pulmonary alveolar proteinosis autoimmune" RELATED [GARD:0007499] synonym: "pulmonary alveolar proteinosis, acquired" RELATED [OMIM:610910] synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [OMIM:610910] xref: GARD:0007499 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.0 {source="Orphanet:747", source="ORDO:747/ntbt"} +xref: ICD10CM:J84.0 {source="Orphanet:747", source="Orphanet:747/ntbt"} xref: MESH:C567049 {source="MONDO:equivalentTo"} -xref: OMIM:610910 {source="ORDO:747/e", source="MONDO:equivalentTo", source="Orphanet:747"} +xref: OMIM:610910 {source="MONDO:equivalentTo", source="Orphanet:747", source="Orphanet:747/e"} xref: Orphanet:747 {source="MONDO:equivalentTo", source="OMIM:610910"} xref: SCTID:707443007 {source="MONDO:equivalentTo"} xref: UMLS:C1970472 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:747", source="OMIM:610910"} @@ -249400,16 +249291,16 @@ synonym: "inborn error of pulmonary surfactant metabolism" EXACT [MONDO:cjm] synonym: "pulmonary alveolar proteinosis, congenital" RELATED [GARD:0004582] synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [OMIMPS:265120] xref: GARD:0004582 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.0 {source="ORDO:264675/attributed", source="ORDO:264675/ntbt", source="Orphanet:264675"} +xref: ICD10CM:J84.0 {source="Orphanet:264675", source="Orphanet:264675/attributed", source="Orphanet:264675/ntbt"} xref: MESH:C535832 {source="MONDO:equivalentTo"} xref: OMIM:265120 {source="MONDO:superClassOf", source="GARD:0004582"} -xref: OMIM:300770 {source="MONDO:superClassOf", source="ORDO:264675/btnt", source="Orphanet:264675"} -xref: OMIM:614370 {source="MONDO:superClassOf", source="ORDO:264675/btnt", source="Orphanet:264675"} +xref: OMIM:300770 {source="MONDO:superClassOf", source="Orphanet:264675", source="Orphanet:264675/btnt"} +xref: OMIM:614370 {source="MONDO:superClassOf", source="Orphanet:264675", source="Orphanet:264675/btnt"} xref: OMIMPS:265120 {source="MONDO:equivalentTo"} xref: Orphanet:217566 {source="MONDO:superClassOf", source="OMIM:610913"} xref: Orphanet:264675 {source="MONDO:equivalentTo", source="OMIM:610913", source="GARD:0004582"} xref: SCTID:707442002 {source="MONDO:equivalentTo"} -xref: UMLS:C2931035 {source="ORDO:264675/e", source="MONDO:equivalentTo", source="Orphanet:264675", source="GARD:0004582"} +xref: UMLS:C2931035 {source="MONDO:equivalentTo", source="Orphanet:264675", source="GARD:0004582", source="Orphanet:264675/e"} is_a: MONDO:0001437 {source="MESH:C535832", source="MONDO:Redundant", source="MONDO:cjm"} ! pulmonary alveolar proteinosis is_a: MONDO:0003847 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:264675/inferred", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0015133 {source="Orphanet:264675"} ! quantitative and/or qualitative congenital phagocyte defect @@ -249456,9 +249347,9 @@ synonym: "pulmonary alveolar proteinosis, congenital, 3" RELATED [OMIM:610921] synonym: "SMDP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610921] synonym: "surfactant metabolism dysfunction, pulmonary, 3" RELATED [MONDO:Lexical, OMIM:610921] synonym: "surfactant metabolism dysfunction, pulmonary, type 3" EXACT [MONDORULE:1, OMIM:610921] -xref: ICD10CM:J84.8 {source="ORDO:440402/attributed", source="ORDO:440402/ntbt", source="Orphanet:440402"} +xref: ICD10CM:J84.8 {source="Orphanet:440402", source="Orphanet:440402/attributed", source="Orphanet:440402/ntbt"} xref: MESH:C567046 {source="MONDO:equivalentTo"} -xref: OMIM:610921 {source="MONDO:equivalentTo", source="ORDO:440402/e", source="Orphanet:440402"} +xref: OMIM:610921 {source="MONDO:equivalentTo", source="Orphanet:440402", source="Orphanet:440402/e"} xref: Orphanet:217563 {source="MONDO:superClassOf", source="OMIM:610921"} xref: Orphanet:264675 {source="MONDO:subClassOf", source="OMIM:610921"} xref: Orphanet:440402 {source="MONDO:equivalentTo"} @@ -249571,9 +249462,9 @@ synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MON synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1] xref: DOID:0110722 {source="MONDO:equivalentTo"} xref: GARD:0001220 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110722", source="Orphanet:228366", source="ORDO:228366/attributed", source="ORDO:228366/ntbt"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="DOID:0110722", source="Orphanet:228366/attributed", source="Orphanet:228366/ntbt", source="Orphanet:228366"} xref: MESH:C563989 {source="MONDO:equivalentTo"} -xref: OMIM:610951 {source="DOID:0110722", source="MONDO:equivalentTo", source="Orphanet:228366", source="ORDO:228366/e"} +xref: OMIM:610951 {source="Orphanet:228366/e", source="DOID:0110722", source="MONDO:equivalentTo", source="Orphanet:228366"} xref: Orphanet:168491 {source="MONDO:subClassOf", source="OMIM:610951"} xref: Orphanet:228366 {source="DOID:0110722", source="MONDO:equivalentTo", source="OMIM:610951"} xref: UMLS:C1838571 {source="NCBI:mim2gene_medline", source="OMIM:610951", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228366"} @@ -249600,14 +249491,14 @@ synonym: "Pitt-Hopkins syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:61 synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610954] xref: DOID:0060488 {source="MONDO:equivalentTo"} xref: GARD:0004372 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2896", source="ORDO:2896/attributed", source="ORDO:2896/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2896/attributed", source="Orphanet:2896/ntbt", source="Orphanet:2896"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="ORDO:2896/e", source="MONDO:equivalentTo"} +xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"} xref: NCIT:C129872 {source="MONDO:equivalentTo"} -xref: OMIM:610954 {source="DOID:0060488", source="Orphanet:2896", source="ORDO:2896/e", source="MONDO:equivalentTo"} +xref: OMIM:610954 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"} xref: Orphanet:2896 {source="DOID:0060488", source="MONDO:equivalentTo", source="OMIM:610954"} xref: SCTID:702344008 {source="DOID:0060488", source="MONDO:equivalentTo"} -xref: UMLS:C1970431 {source="NCIT:C129872", source="DOID:0060488", source="Orphanet:2896", source="NCBI:mim2gene_medline", source="ORDO:2896/e", source="MONDO:equivalentTo", source="OMIM:610954"} +xref: UMLS:C1970431 {source="NCIT:C129872", source="DOID:0060488", source="Orphanet:2896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2896/e", source="OMIM:610954"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2896", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:0060488", source="MONDO:Redundant", source="NCIT:C129872", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2896"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -249654,13 +249545,13 @@ synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967] synonym: "type V OI" RELATED [GARD:0008699] xref: DOID:0110344 {source="MONDO:equivalentTo"} xref: GARD:0008699 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="ORDO:216828/attributed", source="ORDO:216828/ntbt", source="Orphanet:216828", source="DOID:0110344"} -xref: MESH:C536046 {source="Orphanet:216828", source="ORDO:216828/e"} +xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:216828", source="Orphanet:216828/attributed", source="Orphanet:216828/ntbt", source="DOID:0110344"} +xref: MESH:C536046 {source="Orphanet:216828", source="Orphanet:216828/e"} xref: MESH:C567042 {source="MONDO:equivalentTo"} -xref: OMIM:610967 {source="MONDO:equivalentTo", source="Orphanet:216828", source="ORDO:216828/e", source="DOID:0110344"} +xref: OMIM:610967 {source="MONDO:equivalentTo", source="Orphanet:216828", source="Orphanet:216828/e", source="DOID:0110344"} xref: Orphanet:216828 {source="MONDO:equivalentTo", source="OMIM:610967"} xref: UMLS:C1970414 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="Orphanet:216828", source="OMIM:610967"} -xref: UMLS:C2931093 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:216828", source="ORDO:216828/e"} +xref: UMLS:C2931093 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:216828", source="Orphanet:216828/e"} is_a: MONDO:0019019 {source="DC-OMIM:610967", source="DOID:0110344", source="MESH:C567042", source="MONDO:Redundant", source="OMIM:610967", source="Orphanet:216828"} ! osteogenesis imperfecta intersection_of: MONDO:0019019 ! osteogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16644 ! IFITM5 @@ -249707,9 +249598,9 @@ synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EX synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress" RELATED [GARD:0012163] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" EXACT [Orphanet:209905] xref: GARD:0012163 {source="MONDO:equivalentTo"} -xref: ICD10CM:E03.1 {source="Orphanet:209905", source="ORDO:209905/attributed", source="ORDO:209905/ntbt"} +xref: ICD10CM:E03.1 {source="Orphanet:209905/attributed", source="Orphanet:209905/ntbt", source="Orphanet:209905"} xref: MESH:C567034 {source="MONDO:equivalentTo"} -xref: OMIM:610978 {source="Orphanet:209905", source="ORDO:209905/e", source="MONDO:equivalentTo"} +xref: OMIM:610978 {source="Orphanet:209905", source="MONDO:equivalentTo", source="Orphanet:209905/e"} xref: Orphanet:209905 {source="MONDO:equivalentTo", source="OMIM:610978"} xref: SCTID:719098007 {source="MONDO:equivalentTo"} xref: UMLS:C1970269 {source="Orphanet:209905", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610978"} @@ -249734,9 +249625,9 @@ synonym: "complement Factor 1 deficiency" RELATED [OMIM:610984] synonym: "complement factor I deficiency" EXACT [MONDO:Lexical, OMIM:610984] synonym: "immunodeficiency with factor I anomaly" RELATED [Orphanet:200418] xref: DOID:0050419 {source="MONDO:equivalentTo"} -xref: ICD10CM:D84.1 {source="ORDO:200418/attributed", source="ORDO:200418/ntbt", source="Orphanet:200418"} +xref: ICD10CM:D84.1 {source="Orphanet:200418", source="Orphanet:200418/attributed", source="Orphanet:200418/ntbt"} xref: MESH:C572568 {source="MONDO:equivalentTo"} -xref: OMIM:610984 {source="MONDO:equivalentTo", source="Orphanet:200418", source="ORDO:200418/e", source="DOID:0050419"} +xref: OMIM:610984 {source="Orphanet:200418/e", source="MONDO:equivalentTo", source="Orphanet:200418", source="DOID:0050419"} xref: Orphanet:200418 {source="MONDO:equivalentTo", source="OMIM:610984"} xref: UMLS:C0001733 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3463916 {source="MONDO:equivalentTo", source="OMIM:610984", source="Orphanet:200418"} @@ -249776,9 +249667,9 @@ synonym: "PSAT deficiency" EXACT [OMIM:610992, Orphanet:284417] synonym: "PSATD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610992] xref: DOID:0050723 {source="MONDO:equivalentTo"} xref: GARD:0013273 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="ORDO:284417/attributed", source="ORDO:284417/ntbt", source="Orphanet:284417"} +xref: ICD10CM:E72.8 {source="Orphanet:284417/attributed", source="Orphanet:284417/ntbt", source="Orphanet:284417"} xref: MESH:C567032 {source="MONDO:equivalentTo"} -xref: OMIM:610992 {source="MONDO:equivalentTo", source="DOID:0050723", source="ORDO:284417/e", source="Orphanet:284417"} +xref: OMIM:610992 {source="Orphanet:284417/e", source="MONDO:equivalentTo", source="DOID:0050723", source="Orphanet:284417"} xref: Orphanet:284417 {source="OMIM:610992", source="MONDO:equivalentTo"} xref: SCTID:718603002 {source="MONDO:equivalentTo"} xref: UMLS:C1970253 {source="NCBI:mim2gene_medline", source="OMIM:610992", source="MONDO:equivalentTo", source="Orphanet:284417"} @@ -249863,8 +249754,7 @@ synonym: "autosomal recessive deafness 24" NARROW [DOID:0110482] synonym: "autosomal recessive nonsyndromic deafness 24" NARROW CLINGEN_PREFERRED [OMIM:611022] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RDX" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 24" NARROW [DOID:0110482, MONDORULE:2] -synonym: "deafness, autosomal recessive 24" NARROW [MONDO:Lexical, OMIM:611022] -synonym: "deafness, autosomal recessive 24" NARROW [OMIM:611022, OMIM:genemap2] +synonym: "deafness, autosomal recessive 24" NARROW [MONDO:Lexical, OMIM:611022, OMIM:genemap2] synonym: "deafness, autosomal recessive type 24" NARROW [MONDORULE:2, OMIM:611022] synonym: "DFNB24" NARROW ABBREVIATION [DOID:0110482, MONDO:Lexical, OMIM:611022] synonym: "RDX autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -249918,7 +249808,7 @@ xref: OMIM:611038 {source="DOID:0060842", source="MONDO:equivalentTo"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="DOID:0060842", source="OMIM:611038"} xref: UMLS:C1970237 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611038"} is_a: MONDO:0000062 {source="DC-OMIM:611038", source="MONDO:Redundant", source="OMIM:611038"} ! isolated microphthalmia -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18662 ! RAX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18662 {source="mim2gene_medgen"} ! RAX @@ -249941,9 +249831,9 @@ synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syn synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT [Orphanet:251279] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT [DOID:0060837] xref: DOID:0060837 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q15.8 {source="ORDO:251279/attributed", source="ORDO:251279/ntbt", source="Orphanet:251279", source="DOID:0060837"} +xref: ICD10CM:Q15.8 {source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/attributed", source="Orphanet:251279/ntbt"} xref: MESH:C567024 {source="MONDO:equivalentTo"} -xref: OMIM:611040 {source="MONDO:equivalentTo", source="ORDO:251279/e", source="Orphanet:251279", source="DOID:0060837"} +xref: OMIM:611040 {source="MONDO:equivalentTo", source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/e"} xref: Orphanet:251279 {source="MONDO:equivalentTo", source="DOID:0060837", source="OMIM:611040"} xref: UMLS:C1970236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251279", source="OMIM:611040"} is_a: MONDO:0000062 {source="DC-OMIM:611040", source="MONDO:Redundant", source="OMIM:611040"} ! isolated microphthalmia @@ -249995,9 +249885,9 @@ synonym: "dSMA4" EXACT [Orphanet:206580] synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical, OMIM:611067] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1, OMIM:611067] xref: DOID:0111213 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:206580/attributed", source="ORDO:206580/ntbt", source="Orphanet:206580"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206580", source="Orphanet:206580/attributed", source="Orphanet:206580/ntbt"} xref: MESH:C567023 {source="MONDO:equivalentTo"} -xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source="ORDO:206580/e"} +xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source="Orphanet:206580/e"} xref: Orphanet:206580 {source="OMIM:611067", source="MONDO:equivalentTo"} xref: UMLS:C1970211 {source="OMIM:611067", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:206580"} is_a: MONDO:0001516 {source="DC-OMIM:611067", source="MESH:C567023/inferred"} ! spinal muscular atrophy @@ -250023,7 +249913,7 @@ xref: MESH:C567022 {source="MONDO:equivalentTo"} xref: OMIM:611073 {source="MONDO:equivalentTo", source="DOID:0110045"} xref: Orphanet:1020 {source="MONDO:subClassOf", source="OMIM:611073"} xref: UMLS:C1970209 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611073"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql property_value: confidence "1.7975949917804632" xsd:double @@ -250233,10 +250123,10 @@ synonym: "deafness-infertility syndrome" EXACT [MONDO:Lexical, OMIM:611102] synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064] synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911] xref: GARD:0011911 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:94064/attributed", source="ORDO:94064/ntbt", source="Orphanet:94064"} +xref: ICD10CM:Q93.5 {source="Orphanet:94064/attributed", source="Orphanet:94064/ntbt", source="Orphanet:94064"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567010 {source="MONDO:equivalentTo"} -xref: OMIM:611102 {source="MONDO:equivalentTo", source="ORDO:94064/e", source="Orphanet:94064"} +xref: OMIM:611102 {source="Orphanet:94064/e", source="MONDO:equivalentTo", source="Orphanet:94064"} xref: Orphanet:94064 {source="OMIM:611102", source="MONDO:equivalentTo"} xref: SCTID:700489002 {source="MONDO:equivalentTo"} xref: UMLS:C1970187 {source="NCBI:mim2gene_medline", source="OMIM:611102", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94064"} @@ -250261,9 +250151,9 @@ synonym: "leukoencephalopathy with brain stem and spinal cord involvement-lactat synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical, OMIM:611105] synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [OMIM:611105] xref: GARD:0012652 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:137898", source="ORDO:137898/attributed", source="ORDO:137898/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:137898/attributed", source="Orphanet:137898/ntbt", source="Orphanet:137898"} xref: MESH:C567009 {source="MONDO:equivalentTo"} -xref: OMIM:611105 {source="ORDO:137898/e", source="Orphanet:137898", source="MONDO:equivalentTo"} +xref: OMIM:611105 {source="Orphanet:137898", source="MONDO:equivalentTo", source="Orphanet:137898/e"} xref: Orphanet:137898 {source="MONDO:equivalentTo", source="OMIM:611105"} xref: SCTID:703537008 {source="MONDO:equivalentTo"} xref: UMLS:C1970180 {source="NCBI:mim2gene_medline", source="Orphanet:137898", source="OMIM:611105", source="MONDO:notFoundInDiseaseSubset"} @@ -250295,9 +250185,9 @@ synonym: "ACAD9 deficiency" EXACT [OMIM:611126, Orphanet:99901] synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT CLINGEN_PREFERRED [OMIM:611126] synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [OMIM:611126] synonym: "mitochondrial complex I deficiency, nuclear type 20" EXACT [OMIM:611126, OMIM:genemap2] -xref: ICD10CM:E71.3 {source="Orphanet:99901", source="ORDO:99901/attributed", source="ORDO:99901/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:99901", source="Orphanet:99901/attributed", source="Orphanet:99901/ntbt"} xref: MESH:C567006 {source="MONDO:equivalentTo"} -xref: OMIM:611126 {source="ORDO:99901/e", source="MONDO:equivalentTo", source="Orphanet:99901"} +xref: OMIM:611126 {source="MONDO:equivalentTo", source="Orphanet:99901", source="Orphanet:99901/e"} xref: Orphanet:99901 {source="MONDO:equivalentTo", source="OMIM:611126"} xref: SCTID:725046003 {source="MONDO:equivalentTo"} xref: UMLS:C1970173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611126", source="Orphanet:99901"} @@ -250403,7 +250293,7 @@ xref: MESH:C567001 {source="MONDO:equivalentTo"} xref: OMIM:611147 {source="DOID:0090047", source="MONDO:equivalentTo"} xref: Orphanet:98810 {source="MONDO:subClassOf", source="OMIM:611147", source="DOID:0090047"} xref: UMLS:C1970149 {source="OMIM:611147", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015427 {source="ORDO:98810/btnt"} ! paroxysmal dyskinesia +is_a: MONDO:0015427 {source="Orphanet:98810/btnt"} ! paroxysmal dyskinesia is_a: MONDO:0044807 {source="DOID:0090047", source="MONDO:Redundant", source="OMIM:611147", source="indirect"} ! inherited dystonia is_a: MONDO:0700088 {source="Orphanet:98810"} ! paroxysmal nonkinesigenic dyskinesia property_value: confidence "1.486842105263158" xsd:double @@ -250423,7 +250313,7 @@ xref: MESH:C567000 {source="MONDO:equivalentTo"} xref: OMIM:611152 {source="MONDO:equivalentTo", source="DOID:0110046"} xref: Orphanet:1020 {source="MONDO:subClassOf", source="OMIM:611152"} xref: UMLS:C1970147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611152"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -250442,7 +250332,7 @@ xref: ICD10CM:G30 {source="MONDO:subClassOf", source="DOID:0110047"} xref: MESH:C566999 {source="MONDO:equivalentTo"} xref: OMIM:611154 {source="MONDO:equivalentTo", source="DOID:0110047"} xref: UMLS:C1970144 {source="OMIM:611154", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015140 {source="ORDO:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease +is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.7975949917804632" xsd:double @@ -250471,7 +250361,7 @@ synonym: "HMMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611174] synonym: "hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility" RELATED [OMIM:611174] synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED DEPRECATED [OMIM:611174] xref: MESH:C566988 {source="MONDO:equivalentTo"} -xref: OMIM:611174 {source="Orphanet:314555", source="ORDO:314555/e", source="MONDO:equivalentTo"} +xref: OMIM:611174 {source="Orphanet:314555", source="MONDO:equivalentTo", source="Orphanet:314555/e"} xref: Orphanet:314555 {source="MONDO:equivalentTo", source="OMIM:611174"} xref: UMLS:C1970027 {source="Orphanet:314555", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611174"} is_a: MONDO:0020018 {source="Orphanet:314555"} ! cranial malformation @@ -250497,9 +250387,9 @@ synonym: "congenital disorder of glycosylation type IIh" EXACT [Orphanet:95428] synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical, OMIM:611182] xref: DOID:0070260 {source="MONDO:equivalentTo"} xref: GARD:0012411 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:95428/attributed", source="ORDO:95428/ntbt", source="Orphanet:95428"} +xref: ICD10CM:E77.8 {source="Orphanet:95428/attributed", source="Orphanet:95428/ntbt", source="Orphanet:95428"} xref: MESH:C566987 {source="MONDO:equivalentTo"} -xref: OMIM:611182 {source="MONDO:equivalentTo", source="ORDO:95428/e", source="Orphanet:95428"} +xref: OMIM:611182 {source="Orphanet:95428/e", source="MONDO:equivalentTo", source="Orphanet:95428"} xref: Orphanet:95428 {source="MONDO:equivalentTo", source="OMIM:611182"} xref: SCTID:717774004 {source="MONDO:equivalentTo"} xref: UMLS:C1970021 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:95428", source="OMIM:611182"} @@ -250546,9 +250436,9 @@ synonym: "congenital disorder of glycosylation type IIg" EXACT [Orphanet:263508] synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical, OMIM:611209] xref: DOID:0070259 {source="MONDO:equivalentTo"} xref: GARD:0010226 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:263508", source="ORDO:263508/attributed", source="ORDO:263508/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:263508", source="Orphanet:263508/attributed", source="Orphanet:263508/ntbt"} xref: MESH:C535756 {source="MONDO:equivalentTo"} -xref: OMIM:611209 {source="Orphanet:263508", source="MONDO:equivalentTo", source="ORDO:263508/e"} +xref: OMIM:611209 {source="Orphanet:263508", source="MONDO:equivalentTo", source="Orphanet:263508/e"} xref: Orphanet:263508 {source="MONDO:equivalentTo", source="OMIM:611209"} xref: SCTID:718750004 {source="MONDO:equivalentTo"} xref: UMLS:C1970016 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -250580,9 +250470,9 @@ synonym: "MOBA" RELATED ABBREVIATION [GARD:0009292] synonym: "MOBA syndrome" EXACT [Orphanet:77299] synonym: "syndromic microphthalmia type 10" EXACT [Orphanet:77299] xref: GARD:0009292 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="ORDO:77299/attributed", source="ORDO:77299/ntbt", source="Orphanet:77299"} +xref: ICD10CM:Q11.2 {source="Orphanet:77299/attributed", source="Orphanet:77299/ntbt", source="Orphanet:77299"} xref: MESH:C566985 {source="MONDO:equivalentTo"} -xref: OMIM:611222 {source="GARD:0009292", source="MONDO:equivalentTo", source="ORDO:77299/e", source="Orphanet:77299"} +xref: OMIM:611222 {source="GARD:0009292", source="Orphanet:77299/e", source="MONDO:equivalentTo", source="Orphanet:77299"} xref: Orphanet:77299 {source="GARD:0009292", source="OMIM:611222", source="MONDO:equivalentTo"} xref: SCTID:720010009 {source="MONDO:equivalentTo"} xref: UMLS:C1970013 {source="GARD:0009292", source="OMIM:611222", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -250611,12 +250501,12 @@ synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG18" EXACT ABBREVIATION [DOID:0110771, MONDO:Lexical, OMIM:611225, Orphanet:209951] xref: DOID:0110771 {source="MONDO:equivalentTo"} xref: GARD:0004922 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:209951/attributed", source="ORDO:209951/ntbt", source="DOID:0110771", source="Orphanet:209951"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:209951/attributed", source="Orphanet:209951/ntbt", source="DOID:0110771", source="Orphanet:209951"} xref: MESH:C567628 {source="MONDO:equivalentTo"} -xref: OMIM:611225 {source="MONDO:equivalentTo", source="ORDO:209951/e", source="DOID:0110771", source="Orphanet:209951"} +xref: OMIM:611225 {source="Orphanet:209951/e", source="MONDO:equivalentTo", source="DOID:0110771", source="Orphanet:209951"} xref: Orphanet:209951 {source="MONDO:equivalentTo", source="OMIM:611225", source="DOID:0110771"} xref: SCTID:732932004 {source="MONDO:equivalentTo"} -xref: UMLS:C2749936 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611225", source="ORDO:209951/e", source="Orphanet:209951"} +xref: UMLS:C2749936 {source="Orphanet:209951/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611225", source="Orphanet:209951"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:209951"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110771", source="MESH:C567628", source="MONDO:Redundant", source="OMIM:611225", source="Orphanet:209951/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia @@ -250638,10 +250528,10 @@ synonym: "CMT4J" EXACT ABBREVIATION [DOID:0110184, MONDO:Lexical, OMIM:611228, O synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110184 {source="MONDO:equivalentTo"} xref: GARD:0012443 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:139515", source="DOID:0110184", source="ORDO:139515/attributed", source="ORDO:139515/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:139515/attributed", source="Orphanet:139515/ntbt", source="Orphanet:139515", source="DOID:0110184"} xref: MESH:C566984 {source="MONDO:equivalentTo"} xref: NCIT:C134954 {source="MONDO:equivalentTo"} -xref: OMIM:611228 {source="ORDO:139515/e", source="Orphanet:139515", source="MONDO:equivalentTo", source="DOID:0110184"} +xref: OMIM:611228 {source="Orphanet:139515", source="MONDO:equivalentTo", source="DOID:0110184", source="Orphanet:139515/e"} xref: Orphanet:139515 {source="MONDO:equivalentTo", source="OMIM:611228", source="DOID:0110184"} xref: SCTID:720638000 {source="MONDO:equivalentTo"} xref: UMLS:C1970011 {source="NCBI:mim2gene_medline", source="Orphanet:139515", source="MONDO:equivalentTo", source="OMIM:611228", source="NCIT:C134954"} @@ -250694,12 +250584,12 @@ synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG32" EXACT ABBREVIATION [DOID:0110783, MONDO:Lexical, OMIM:611252, Orphanet:171622] xref: DOID:0110783 {source="MONDO:equivalentTo"} xref: GARD:0012749 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110783", source="Orphanet:171622", source="ORDO:171622/attributed", source="ORDO:171622/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:171622/attributed", source="Orphanet:171622/ntbt", source="DOID:0110783", source="Orphanet:171622"} xref: MESH:C566983 {source="MONDO:equivalentTo"} -xref: OMIM:611252 {source="MONDO:equivalentTo", source="DOID:0110783", source="Orphanet:171622", source="ORDO:171622/e"} +xref: OMIM:611252 {source="Orphanet:171622/e", source="MONDO:equivalentTo", source="DOID:0110783", source="Orphanet:171622"} xref: Orphanet:171622 {source="OMIM:611252", source="MONDO:equivalentTo", source="DOID:0110783"} xref: SCTID:726606003 {source="MONDO:equivalentTo"} -xref: UMLS:C1970009 {source="OMIM:611252", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171622", source="ORDO:171622/e"} +xref: UMLS:C1970009 {source="OMIM:611252", source="Orphanet:171622/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171622"} xref: UMLS:C4511958 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:171622"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110783", source="MESH:C566983", source="MONDO:Redundant", source="OMIM:611252", source="Orphanet:171622/inferred"} ! hereditary spastic paraplegia @@ -250738,7 +250628,7 @@ xref: MESH:C566977 {source="MONDO:equivalentTo"} xref: OMIM:611274 {source="MONDO:equivalentTo"} xref: Orphanet:98977 {source="MONDO:subClassOf", source="OMIM:611274"} xref: UMLS:C1969812 {source="OMIM:611274", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020367 {source="ORDO:98977/btnt"} ! juvenile open angle glaucoma +is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -250772,12 +250662,12 @@ synonym: "IBD deficiency" RELATED [OMIM:611283] synonym: "isobutyric aciduria" EXACT [Orphanet:79159] synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [OMIM:611283] xref: GARD:0010223 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:79159/attributed", source="ORDO:79159/ntbt", source="Orphanet:79159"} -xref: MESH:C535541 {source="MONDO:equivalentTo", source="ORDO:79159/e", source="Orphanet:79159"} +xref: ICD10CM:E71.1 {source="Orphanet:79159/attributed", source="Orphanet:79159/ntbt", source="Orphanet:79159"} +xref: MESH:C535541 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"} xref: NCIT:C129975 {source="MONDO:equivalentTo"} -xref: OMIM:611283 {source="MONDO:equivalentTo", source="ORDO:79159/e", source="Orphanet:79159"} +xref: OMIM:611283 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"} xref: Orphanet:79159 {source="MONDO:equivalentTo", source="OMIM:611283"} -xref: UMLS:C1969809 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129975", source="ORDO:79159/e", source="Orphanet:79159", source="OMIM:611283"} +xref: UMLS:C1969809 {source="Orphanet:79159/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129975", source="Orphanet:79159", source="OMIM:611283"} is_a: MONDO:0019215 {source="Orphanet:79159"} ! classic organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/87 {source="mim2gene_medgen"} ! ACAD8 relationship: disease_has_major_feature HP:0001644 {source="Orphanet:79159"} ! Dilated cardiomyopathy @@ -250807,9 +250697,9 @@ synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-p synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] -xref: ICD10CM:D81.1 {source="Orphanet:169079", source="ORDO:169079/attributed", source="ORDO:169079/ntbt"} +xref: ICD10CM:D81.1 {source="Orphanet:169079", source="Orphanet:169079/attributed", source="Orphanet:169079/ntbt"} xref: MESH:C566970 {source="MONDO:equivalentTo"} -xref: OMIM:611291 {source="Orphanet:169079", source="MONDO:equivalentTo", source="ORDO:169079/e"} +xref: OMIM:611291 {source="Orphanet:169079", source="MONDO:equivalentTo", source="Orphanet:169079/e"} xref: Orphanet:169079 {source="MONDO:equivalentTo", source="OMIM:611291"} xref: SCTID:720853005 {source="MONDO:equivalentTo"} xref: UMLS:C1969799 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611291"} @@ -250833,9 +250723,9 @@ synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1] synonym: "SPAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611302, Orphanet:397946] synonym: "SPG58" EXACT ABBREVIATION [Orphanet:397946] xref: DOID:0050941 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:397946/attributed", source="ORDO:397946/ntbt", source="Orphanet:397946"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:397946/attributed", source="Orphanet:397946/ntbt", source="Orphanet:397946"} xref: MESH:C566969 {source="MONDO:equivalentTo"} -xref: OMIM:611302 {source="MONDO:equivalentTo", source="DOID:0050941", source="ORDO:397946/e", source="Orphanet:397946"} +xref: OMIM:611302 {source="Orphanet:397946/e", source="MONDO:equivalentTo", source="DOID:0050941", source="Orphanet:397946"} xref: Orphanet:397946 {source="MONDO:equivalentTo", source="OMIM:611302"} xref: UMLS:C1969796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611302"} is_a: MONDO:0015089 {source="Orphanet:397946"} ! autosomal recessive complex spastic paraplegia @@ -250858,9 +250748,9 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 12" EXACT [OMIM:6 synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307] xref: DOID:0110284 {source="MONDO:equivalentTo"} xref: GARD:0012536 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206549", source="DOID:0110284", source="ORDO:206549/attributed", source="ORDO:206549/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206549/attributed", source="Orphanet:206549/ntbt", source="Orphanet:206549", source="DOID:0110284"} xref: MESH:C566968 {source="MONDO:equivalentTo"} -xref: OMIM:611307 {source="ORDO:206549/e", source="Orphanet:206549", source="MONDO:equivalentTo", source="DOID:0110284"} +xref: OMIM:611307 {source="Orphanet:206549", source="MONDO:equivalentTo", source="DOID:0110284", source="Orphanet:206549/e"} xref: Orphanet:206549 {source="MONDO:equivalentTo", source="DOID:0110284", source="OMIM:611307"} xref: UMLS:C1969785 {source="NCBI:mim2gene_medline", source="Orphanet:206549", source="MONDO:equivalentTo", source="OMIM:611307"} is_a: MONDO:0015152 {source="DOID:0110284", source="MONDO:Redundant", source="OMIM:611307", source="Orphanet:206549"} ! autosomal recessive limb-girdle muscular dystrophy @@ -250937,10 +250827,10 @@ synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:6 synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060653 {source="MONDO:equivalentTo"} xref: GARD:0012644 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="DOID:0060653", source="ORDO:137783/attributed", source="ORDO:137783/ntbt", source="Orphanet:137783"} +xref: ICD10CM:Q68.8 {source="DOID:0060653", source="Orphanet:137783/attributed", source="Orphanet:137783/ntbt", source="Orphanet:137783"} xref: MESH:C566961 {source="MONDO:equivalentTo"} -xref: OMIM:611369 {source="MONDO:equivalentTo", source="Orphanet:137783", source="ORDO:137783/e"} -xref: OMIM:614915 {source="ORDO:137783/btnt", source="MONDO:directSiblingOf", source="Orphanet:137783"} +xref: OMIM:611369 {source="Orphanet:137783/e", source="MONDO:equivalentTo", source="Orphanet:137783"} +xref: OMIM:614915 {source="Orphanet:137783/btnt", source="MONDO:directSiblingOf", source="Orphanet:137783"} xref: Orphanet:137783 {source="DOID:0060653", source="MONDO:equivalentTo", source="OMIM:611369"} xref: SCTID:715420005 {source="MONDO:equivalentTo"} xref: UMLS:C1969655 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611369", source="Orphanet:137783"} @@ -250980,8 +250870,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:140908"} synonym: "BDB2" EXACT ABBREVIATION [DOID:0110975, MONDO:Lexical, OMIM:611377] synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377] xref: DOID:0110975 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="DOID:0110975", source="ORDO:140908/attributed", source="ORDO:140908/ntbt", source="Orphanet:140908"} -xref: OMIM:611377 {source="DOID:0110975", source="ORDO:140908/e", source="MONDO:equivalentTo", source="Orphanet:140908"} +xref: ICD10CM:Q73.8 {source="DOID:0110975", source="Orphanet:140908", source="Orphanet:140908/attributed", source="Orphanet:140908/ntbt"} +xref: OMIM:611377 {source="DOID:0110975", source="MONDO:equivalentTo", source="Orphanet:140908", source="Orphanet:140908/e"} xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"} xref: SCTID:770406002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} xref: UMLS:C1969652 {source="NCBI:mim2gene_medline", source="OMIM:611377", source="MONDO:equivalentTo", source="Orphanet:140908"} @@ -251088,9 +250978,9 @@ synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:61 synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1] synonym: "SPAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611390, Orphanet:314603] xref: DOID:0050942 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:314603", source="ORDO:314603/attributed", source="ORDO:314603/ntbt"} +xref: ICD10CM:G11.4 {source="Orphanet:314603/attributed", source="Orphanet:314603/ntbt", source="MONDO:relatedTo", source="Orphanet:314603"} xref: MESH:C566956 {source="MONDO:equivalentTo"} -xref: OMIM:611390 {source="Orphanet:314603", source="ORDO:314603/e", source="DOID:0050942", source="MONDO:equivalentTo"} +xref: OMIM:611390 {source="Orphanet:314603", source="DOID:0050942", source="MONDO:equivalentTo", source="Orphanet:314603/e"} xref: Orphanet:314603 {source="MONDO:equivalentTo", source="OMIM:611390"} xref: UMLS:C1969645 {source="Orphanet:314603", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611390"} xref: UMLS:CN230089 {source="MONDO:equivalentTo"} @@ -251123,7 +251013,7 @@ xref: Orphanet:217052 {source="MONDO:equivalentObsolete", source="OMIM:611391"} xref: UMLS:C1969644 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3808107 {source="MONDO:equivalentTo", source="OMIM:611391"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110264", source="MESH:C566955", source="MONDO:Redundant", source="OMIM:611391", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1040 ! BFSP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1040 {source="mim2gene_medgen"} ! BFSP1 @@ -251182,13 +251072,13 @@ synonym: "neurofibromatosis type 1 like syndrome" RELATED [GARD:0010714] synonym: "neurofibromatosis type 1-like syndrome" RELATED [OMIM:611431] synonym: "NF1-like syndrome" EXACT [Orphanet:137605] xref: GARD:0010714 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.0 {source="ORDO:137605/attributed", source="ORDO:137605/ntbt", source="Orphanet:137605"} +xref: ICD10CM:Q85.0 {source="Orphanet:137605", source="Orphanet:137605/attributed", source="Orphanet:137605/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C548032 {source="MONDO:equivalentTo", source="ORDO:137605/e", source="Orphanet:137605"} -xref: OMIM:611431 {source="MONDO:equivalentTo", source="ORDO:137605/e", source="Orphanet:137605"} +xref: MESH:C548032 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} +xref: OMIM:611431 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} xref: Orphanet:137605 {source="OMIM:611431", source="MONDO:equivalentTo"} xref: SCTID:703541007 {source="MONDO:equivalentTo"} -xref: UMLS:C1969623 {source="OMIM:611431", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:137605/e", source="Orphanet:137605"} +xref: UMLS:C1969623 {source="OMIM:611431", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} is_a: MONDO:0019289 {source="Orphanet:137605"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020297 {source="https://orcid.org/0000-0001-6671-2252", source="https://orcid.org/0000-0001-7736-9672", source="https://orcid.org/0000-0001-8200-1733", source="https://orcid.org/0000-0001-9069-3901", source="https://orcid.org/0000-0002-0146-4881", source="https://orcid.org/0000-0002-2635-9172", source="https://orcid.org/0000-0002-2827-6880", source="https://orcid.org/0000-0002-5791-6891", source="https://orcid.org/0000-0002-6559-2858", source="https://orcid.org/0000-0003-1348-7738", source="https://orcid.org/0000-0003-1618-9269", source="https://orcid.org/0000-0003-1719-7228", source="https://orcid.org/0000-0003-2840-1511", source="https://orcid.org/0000-0003-2890-7483"} ! Noonan syndrome and Noonan-related syndrome @@ -251206,8 +251096,7 @@ synonym: "autosomal recessive deafness 63" NARROW [DOID:0110515] synonym: "autosomal recessive nonsyndromic deafness 63" NARROW CLINGEN_PREFERRED [OMIM:611451] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 63" NARROW [DOID:0110515, MONDORULE:2] -synonym: "deafness, autosomal recessive 63" NARROW [MONDO:Lexical, OMIM:611451] -synonym: "deafness, autosomal recessive 63" NARROW [OMIM:611451, OMIM:genemap2] +synonym: "deafness, autosomal recessive 63" NARROW [MONDO:Lexical, OMIM:611451, OMIM:genemap2] synonym: "deafness, autosomal recessive type 63" NARROW [MONDORULE:2, OMIM:611451] synonym: "DFNB63" NARROW ABBREVIATION [DOID:0110515, MONDO:Lexical, OMIM:611451] synonym: "LRTOMT autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -251313,8 +251202,8 @@ synonym: "Transcortin deficiency" EXACT [OMIM:611489, Orphanet:199247] synonym: "transcortin deficiency" EXACT [DOID:0090030] xref: DOID:0090030 {source="MONDO:equivalentTo"} xref: GARD:0013101 {source="MONDO:equivalentTo"} -xref: ICD10CM:E27.8 {source="DOID:0090030", source="ORDO:199247/attributed", source="ORDO:199247/ntbt", source="Orphanet:199247"} -xref: OMIM:611489 {source="DOID:0090030", source="ORDO:199247/e", source="MONDO:equivalentTo", source="Orphanet:199247"} +xref: ICD10CM:E27.8 {source="DOID:0090030", source="Orphanet:199247", source="Orphanet:199247/attributed", source="Orphanet:199247/ntbt"} +xref: OMIM:611489 {source="DOID:0090030", source="MONDO:equivalentTo", source="Orphanet:199247", source="Orphanet:199247/e"} xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"} xref: UMLS:C1852529 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611489", source="Orphanet:199247"} xref: UMLS:C1969107 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:611489"} @@ -251348,7 +251237,7 @@ xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:subClassOf", source="OMIM:611490"} xref: UMLS:C1969106 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611490"} is_a: MONDO:0017198 {source="DOID:0110944", source="MONDO:0012676/inferred", source="MONDO:Redundant", source="OMIM:611490", source="indirect"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2025 ! CLCN7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2025 {source="mim2gene_medgen"} ! CLCN7 @@ -251405,11 +251294,11 @@ synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [OMIM:6 synonym: "PLEKHM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110945 {source="MONDO:equivalentTo"} xref: GARD:0004156 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.2 {source="Orphanet:210110", source="ORDO:210110/attributed", source="ORDO:210110/ntbt"} +xref: ICD10CM:Q78.2 {source="Orphanet:210110", source="Orphanet:210110/attributed", source="Orphanet:210110/ntbt"} xref: MESH:C566931 {source="MONDO:equivalentTo"} -xref: OMIM:611497 {source="Orphanet:210110", source="ORDO:210110/e", source="DOID:0110945", source="MONDO:equivalentTo"} +xref: OMIM:611497 {source="Orphanet:210110", source="DOID:0110945", source="MONDO:equivalentTo", source="Orphanet:210110/e"} xref: Orphanet:210110 {source="OMIM:611497", source="MONDO:equivalentTo"} -xref: UMLS:C0432261 {source="Orphanet:210110", source="ORDO:210110/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0432261 {source="Orphanet:210110", source="Orphanet:210110/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1969093 {source="Orphanet:210110", source="OMIM:611497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017198 {source="DC-OMIM:611497", source="DOID:0110945", source="MONDO:Redundant", source="OMIM:611497", source="Orphanet:210110"} ! osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis @@ -251470,9 +251359,9 @@ synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [] synonym: "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "TYK2 deficiency" EXACT [OMIM:611521] synonym: "tyrosine kinase 2 deficiency" EXACT [OMIM:611521] -xref: ICD10CM:D82.4 {source="ORDO:331226/attributed", source="ORDO:331226/ntbt", source="Orphanet:331226"} +xref: ICD10CM:D82.4 {source="Orphanet:331226", source="Orphanet:331226/attributed", source="Orphanet:331226/ntbt"} xref: MESH:C566928 {source="MONDO:equivalentTo"} -xref: OMIM:611521 {source="MONDO:equivalentTo", source="Orphanet:331226", source="ORDO:331226/e"} +xref: OMIM:611521 {source="MONDO:equivalentTo", source="Orphanet:331226", source="Orphanet:331226/e"} xref: Orphanet:169446 {source="OMIM:611521"} xref: Orphanet:331226 {source="OMIM:611521", source="MONDO:equivalentTo"} xref: UMLS:C1969086 {source="OMIM:611521", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:331226"} @@ -251497,12 +251386,12 @@ synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:61152 synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060275 {source="MONDO:equivalentTo"} xref: GARD:0010710 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:166073", source="ORDO:166073/attributed", source="ORDO:166073/ntbt"} -xref: MESH:C548074 {source="DOID:0060275", source="MONDO:equivalentTo", source="Orphanet:166073", source="ORDO:166073/e"} -xref: OMIM:611523 {source="DOID:0060275", source="MONDO:equivalentTo", source="Orphanet:166073", source="ORDO:166073/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:166073/attributed", source="Orphanet:166073/ntbt", source="Orphanet:166073"} +xref: MESH:C548074 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} +xref: OMIM:611523 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} xref: Orphanet:166073 {source="DOID:0060275", source="MONDO:equivalentTo", source="OMIM:611523"} xref: SCTID:718606005 {source="MONDO:equivalentTo"} -xref: UMLS:C1969084 {source="DOID:0060275", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611523", source="Orphanet:166073", source="ORDO:166073/e"} +xref: UMLS:C1969084 {source="DOID:0060275", source="Orphanet:166073/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611523", source="Orphanet:166073"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="MONDO:Redundant", source="OMIM:611523", source="Orphanet:166073", source="linkedlifedata"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia @@ -251531,7 +251420,7 @@ xref: MESH:C566925 {source="MONDO:equivalentTo"} xref: OMIM:611528 {source="MONDO:equivalentTo", source="DOID:0110083"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:611528"} xref: UMLS:C1969081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611528"} -is_a: MONDO:0016342 {source="DOID:0110083", source="MESH:C566925", source="MONDO:Redundant", source="OMIM:611528", source="ORDO:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="DOID:0110083", source="MESH:C566925", source="MONDO:Redundant", source="OMIM:611528", source="Orphanet:217656/btnt", source="indirect"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6207 ! JUP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6207 {source="mim2gene_medgen"} ! JUP @@ -251571,7 +251460,7 @@ synonym: "cavitary optic DISC anomalies" RELATED [MONDO:Lexical, OMIM:611543] synonym: "CODA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611543] synonym: "familial CODA" EXACT [Orphanet:464760] xref: MESH:C566924 {source="MONDO:equivalentTo"} -xref: OMIM:611543 {source="Orphanet:464760", source="ORDO:464760/e", source="MONDO:equivalentTo"} +xref: OMIM:611543 {source="Orphanet:464760", source="MONDO:equivalentTo", source="Orphanet:464760/e"} xref: Orphanet:464760 {source="MONDO:equivalentTo"} xref: UMLS:C1969063 {source="OMIM:611543", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye @@ -251598,7 +251487,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:611544"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:611544"} xref: UMLS:C1969062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611544"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110270", source="MESH:C566923", source="MONDO:Redundant", source="OMIM:611544", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2397 ! CRYBB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2397 {source="mim2gene_medgen"} ! CRYBB1 @@ -251661,7 +251550,7 @@ xref: MESH:C537117 {source="MONDO:equivalentTo"} xref: OMIM:611554 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="MONDO:subClassOf", source="OMIM:611554"} xref: UMLS:C1969056 {source="OMIM:611554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007893 {source="MESH:C537117", source="MONDO:Redundant", source="OMIM:611554", source="ORDO:500/btnt"} ! Noonan syndrome with multiple lentigines +is_a: MONDO:0007893 {source="MESH:C537117", source="MONDO:Redundant", source="OMIM:611554", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9829 ! RAF1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9829 {source="mim2gene_medgen"} ! RAF1 @@ -251697,9 +251586,9 @@ synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EX synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556] synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556] xref: GARD:0010760 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:137625/attributed", source="ORDO:137625/ntbt", source="Orphanet:137625"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:137625", source="Orphanet:137625/attributed", source="Orphanet:137625/ntbt"} xref: MESH:C566917 {source="MONDO:equivalentTo"} -xref: OMIM:611556 {source="ORDO:137625/e", source="MONDO:equivalentTo", source="Orphanet:137625"} +xref: OMIM:611556 {source="MONDO:equivalentTo", source="Orphanet:137625", source="Orphanet:137625/e"} xref: Orphanet:137625 {source="MONDO:equivalentTo", source="OMIM:611556"} xref: SCTID:725027004 {source="MONDO:equivalentTo"} xref: UMLS:C1969054 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611556"} @@ -251817,9 +251706,9 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [D synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical, OMIM:611588] xref: DOID:0110296 {source="MONDO:equivalentTo"} xref: GARD:0012538 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110296", source="ORDO:206554/attributed", source="ORDO:206554/ntbt", source="Orphanet:206554"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206554/attributed", source="Orphanet:206554/ntbt", source="DOID:0110296", source="Orphanet:206554"} xref: MESH:C566912 {source="MONDO:equivalentTo"} -xref: OMIM:611588 {source="MONDO:equivalentTo", source="DOID:0110296", source="ORDO:206554/e", source="Orphanet:206554"} +xref: OMIM:611588 {source="Orphanet:206554/e", source="MONDO:equivalentTo", source="DOID:0110296", source="Orphanet:206554"} xref: Orphanet:206554 {source="MONDO:equivalentTo", source="OMIM:611588", source="DOID:0110296"} xref: UMLS:C1969040 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611588", source="Orphanet:206554"} is_a: MONDO:0000173 {source="OMIM:611588"} ! muscular dystrophy-dystroglycanopathy, type C @@ -251848,8 +251737,8 @@ synonym: "dRTA with anemia" EXACT [Orphanet:93610] synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:611590] synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590] synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590] -xref: ICD10CM:N25.8 {source="ORDO:93610/attributed", source="ORDO:93610/ntbt", source="Orphanet:93610"} -xref: OMIM:611590 {source="ORDO:93610/e", source="MONDO:equivalentTo", source="Orphanet:93610"} +xref: ICD10CM:N25.8 {source="Orphanet:93610", source="Orphanet:93610/attributed", source="Orphanet:93610/ntbt"} +xref: OMIM:611590 {source="MONDO:equivalentTo", source="Orphanet:93610", source="Orphanet:93610/e"} xref: Orphanet:18 {source="MONDO:subClassOf", source="OMIM:611590"} xref: Orphanet:93610 {source="MONDO:equivalentTo", source="OMIM:611590"} xref: UMLS:C1969038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:93610", source="OMIM:611590"} @@ -251902,10 +251791,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:171680"} synonym: "LIS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611603] synonym: "lissencephaly 3" RELATED [MONDO:Lexical, OMIM:611603] synonym: "lissencephaly type 3" EXACT [MONDORULE:1, OMIM:611603] -xref: ICD10CM:Q04.3 {source="Orphanet:171680", source="ORDO:171680/attributed", source="ORDO:171680/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:171680/attributed", source="Orphanet:171680/ntbt", source="Orphanet:171680"} xref: MESH:C566908 {source="MONDO:equivalentTo"} xref: NCIT:C148461 {source="MONDO:equivalentTo"} -xref: OMIM:611603 {source="Orphanet:171680", source="ORDO:171680/e", source="MONDO:equivalentTo"} +xref: OMIM:611603 {source="Orphanet:171680", source="MONDO:equivalentTo", source="Orphanet:171680/e"} xref: Orphanet:171680 {source="MONDO:equivalentTo", source="OMIM:611603"} xref: UMLS:C1969029 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611603"} xref: UMLS:CN200289 {source="MONDO:equivalentTo"} @@ -251954,7 +251843,7 @@ xref: OMIM:611630 {source="DOID:0060750", source="MONDO:equivalentTo"} xref: Orphanet:163717 {source="DOID:0060750", source="OMIM:611630", source="MONDO:superClassOf"} xref: UMLS:C1968848 {source="NCBI:mim2gene_medline", source="OMIM:611630", source="MONDO:equivalentTo"} is_a: MONDO:0005115 {source="DOID:0060750", source="OMIM:611630"} ! temporal lobe epilepsy -is_a: MONDO:0015586 {source="ORDO:163717/btnt"} ! benign familial mesial temporal lobe epilepsy +is_a: MONDO:0015586 {source="Orphanet:163717/btnt"} ! benign familial mesial temporal lobe epilepsy [Term] id: MONDO:0012706 @@ -252016,7 +251905,7 @@ xref: MESH:C566899 {source="MONDO:equivalentTo"} xref: OMIM:611638 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:611638"} xref: UMLS:C1968843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611638"} -is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:611638", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:611638", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10848 ! SHH relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10848 {source="mim2gene_medgen"} ! SHH @@ -252078,9 +251967,9 @@ synonym: "EOMFC" RELATED ABBREVIATION [OMIM:611705] synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [OMIM:611705] synonym: "Salih myopathy" EXACT [Orphanet:289377] synonym: "SALMY" RELATED ABBREVIATION [OMIM:611705] -xref: ICD10CM:G71.8 {source="Orphanet:289377", source="ORDO:289377/attributed", source="ORDO:289377/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:289377/attributed", source="Orphanet:289377/ntbt", source="Orphanet:289377"} xref: MESH:C567129 {source="MONDO:equivalentTo"} -xref: OMIM:611705 {source="ORDO:289377/e", source="Orphanet:289377", source="MONDO:equivalentTo"} +xref: OMIM:611705 {source="Orphanet:289377", source="MONDO:equivalentTo", source="Orphanet:289377/e"} xref: Orphanet:289377 {source="MONDO:equivalentTo", source="OMIM:611705"} xref: SCTID:702343002 {source="MONDO:equivalentTo"} xref: UMLS:C2673677 {source="Orphanet:289377", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611705"} @@ -252117,9 +252006,9 @@ synonym: "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" E synonym: "Tatoo dysplasia" RELATED [OMIM:611717] synonym: "tattoo dysplasia" EXACT [Orphanet:163654] xref: GARD:0010629 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:163654/attributed", source="ORDO:163654/ntbt", source="Orphanet:163654"} +xref: ICD10CM:Q77.7 {source="Orphanet:163654", source="Orphanet:163654/attributed", source="Orphanet:163654/ntbt"} xref: MESH:C567128 {source="MONDO:equivalentTo"} -xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="ORDO:163654/e"} +xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="Orphanet:163654/e"} xref: Orphanet:163654 {source="MONDO:equivalentTo", source="OMIM:611717"} xref: SCTID:718765003 {source="MONDO:equivalentTo"} xref: UMLS:C2673649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:163654", source="OMIM:611717"} @@ -252145,7 +252034,7 @@ xref: OMIM:611718 {source="DOID:0060882", source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="MONDO:subClassOf", source="DOID:0060882", source="OMIM:611718"} xref: UMLS:C2673648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611718"} is_a: MONDO:0018100 {source="DOID:0060882", source="MONDO:Redundant", source="OMIM:611718", source="indirect"} ! familial primary hypomagnesemia -is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia +is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia intersection_of: MONDO:0018100 ! familial primary hypomagnesemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3229 ! EGF relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3229 {source="mim2gene_medgen"} ! EGF @@ -252163,9 +252052,9 @@ synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE synonym: "COXPD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611719, Orphanet:137908] synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111473 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:137908/attributed", source="ORDO:137908/ntbt", source="Orphanet:137908"} +xref: ICD10CM:E88.8 {source="Orphanet:137908/attributed", source="Orphanet:137908/ntbt", source="Orphanet:137908"} xref: MESH:C567126 {source="MONDO:equivalentTo"} -xref: OMIM:611719 {source="MONDO:equivalentTo", source="ORDO:137908/e", source="Orphanet:137908"} +xref: OMIM:611719 {source="Orphanet:137908/e", source="MONDO:equivalentTo", source="Orphanet:137908"} xref: Orphanet:137908 {source="OMIM:611719", source="MONDO:equivalentTo"} xref: SCTID:724279004 {source="MONDO:equivalentTo"} xref: UMLS:C2673642 {source="OMIM:611719", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:137908"} @@ -252191,9 +252080,9 @@ synonym: "prosaposin deficiency" RELATED [OMIM:611721] synonym: "PSAPD" RELATED ABBREVIATION [GARD:0012505] xref: DOID:0111330 {source="MONDO:equivalentTo"} xref: GARD:0012505 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:139406", source="ORDO:139406/attributed", source="ORDO:139406/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:139406/attributed", source="Orphanet:139406/ntbt", source="Orphanet:139406"} xref: MESH:C567125 {source="MONDO:equivalentTo"} -xref: OMIM:611721 {source="Orphanet:139406", source="ORDO:139406/e", source="MONDO:equivalentTo"} +xref: OMIM:611721 {source="Orphanet:139406", source="MONDO:equivalentTo", source="Orphanet:139406/e"} xref: Orphanet:139406 {source="MONDO:equivalentTo", source="OMIM:611721"} xref: SCTID:720864008 {source="MONDO:equivalentTo"} xref: UMLS:C2673635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611721"} @@ -252219,7 +252108,7 @@ xref: Orphanet:487 {source="MONDO:subClassOf", source="OMIM:611722"} xref: UMLS:C2673266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611722"} is_a: MONDO:0002254 ! syndromic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9498 {source="mim2gene_medgen"} ! PSAP -relationship: disease_shares_features_of MONDO:0009499 {source="MESH:C567097", source="ORDO:487/btnt"} ! Krabbe disease +relationship: disease_shares_features_of MONDO:0009499 {source="MESH:C567097", source="Orphanet:487/btnt"} ! Krabbe disease relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.968181818181818" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency xsd:anyURI {source="GARD:0010289"} @@ -252245,9 +252134,9 @@ synonym: "progressive myoclonic epilepsy type 3" EXACT CLINGEN_PREFERRED [] synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516] xref: DOID:0111446 {source="MONDO:equivalentTo"} xref: GARD:0002167 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:263516", source="ORDO:263516/attributed", source="ORDO:263516/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:263516/attributed", source="Orphanet:263516/ntbt", source="Orphanet:263516"} xref: MESH:C567095 {source="MONDO:equivalentTo"} -xref: OMIM:611726 {source="MONDO:equivalentTo", source="Orphanet:263516", source="ORDO:263516/e"} +xref: OMIM:611726 {source="Orphanet:263516/e", source="MONDO:equivalentTo", source="Orphanet:263516"} xref: Orphanet:263516 {source="MONDO:equivalentTo", source="OMIM:611726"} xref: UMLS:C2673257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:263516", source="OMIM:611726"} is_a: MONDO:0015286 ! congenital disorder of glycosylation @@ -252316,10 +252205,10 @@ synonym: "NAPS12" EXACT ABBREVIATION [Orphanet:247868] synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063] xref: DOID:0090063 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.0 {source="DOID:0090063", source="ORDO:247868/attributed", source="ORDO:247868/ntbt", source="Orphanet:247868"} +xref: ICD10CM:E85.0 {source="DOID:0090063", source="Orphanet:247868", source="Orphanet:247868/attributed", source="Orphanet:247868/ntbt"} xref: MESH:C567090 {source="MONDO:equivalentTo"} xref: NCIT:C119043 {source="MONDO:equivalentTo"} -xref: OMIM:611762 {source="DOID:0090063", source="MONDO:equivalentTo", source="Orphanet:247868", source="ORDO:247868/e"} +xref: OMIM:611762 {source="DOID:0090063", source="MONDO:equivalentTo", source="Orphanet:247868", source="Orphanet:247868/e"} xref: Orphanet:247868 {source="OMIM:611762", source="MONDO:equivalentTo"} xref: UMLS:C2673198 {source="DOID:0090063", source="NCBI:mim2gene_medline", source="OMIM:611762", source="MONDO:equivalentTo", source="Orphanet:247868"} xref: UMLS:C3897034 {source="MONDO:equivalentTo", source="NCIT:C119043"} @@ -252336,11 +252225,11 @@ name: lipoprotein glomerulopathy subset: ordo_disease {source="Orphanet:329481"} synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771] synonym: "LPG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611771, Orphanet:329481] -xref: ICD10CM:N07.8 {source="Orphanet:329481", source="ORDO:329481/attributed", source="ORDO:329481/ntbt"} +xref: ICD10CM:N07.8 {source="Orphanet:329481/attributed", source="Orphanet:329481/ntbt", source="Orphanet:329481"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567089 {source="MONDO:equivalentTo"} -xref: OMIM:611771 {source="Orphanet:329481", source="ORDO:329481/e", source="MONDO:equivalentTo"} +xref: OMIM:611771 {source="Orphanet:329481", source="MONDO:equivalentTo", source="Orphanet:329481/e"} xref: Orphanet:329481 {source="OMIM:611771", source="MONDO:equivalentTo"} xref: SCTID:446923008 {source="MONDO:equivalentTo"} xref: UMLS:C2673196 {source="OMIM:611771", source="Orphanet:329481", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -252360,10 +252249,10 @@ synonym: "HANAC syndrome" EXACT [Orphanet:73229] synonym: "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" RELATED [GARD:0010889] synonym: "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" EXACT [Orphanet:73229] xref: GARD:0010889 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I99 {source="ORDO:73229/attributed", source="ORDO:73229/ntbt", source="Orphanet:73229"} +xref: ICD10CM:I99 {source="Orphanet:73229", source="Orphanet:73229/attributed", source="Orphanet:73229/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567088 {source="MONDO:equivalentTo"} -xref: OMIM:611773 {source="MONDO:equivalentTo", source="ORDO:73229/e", source="Orphanet:73229"} +xref: OMIM:611773 {source="MONDO:equivalentTo", source="Orphanet:73229", source="Orphanet:73229/e"} xref: Orphanet:73229 {source="OMIM:611773", source="MONDO:equivalentTo"} xref: SCTID:702428000 {source="MONDO:equivalentTo"} xref: UMLS:C2673195 {source="NCBI:mim2gene_medline", source="OMIM:611773", source="MONDO:equivalentTo", source="Orphanet:73229"} @@ -252391,12 +252280,12 @@ synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, OMIM:611775, Orp xref: DOID:13378 {source="EFO:0004246", source="MONDO:equivalentTo"} xref: EFO:0004246 {source="MONDO:equivalentTo", source="DOID:13378"} xref: GARD:0006816 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M30.3 {source="Orphanet:2331", source="ORDO:2331/e", source="DOID:13378"} +xref: ICD10CM:M30.3 {source="Orphanet:2331", source="Orphanet:2331/e", source="DOID:13378"} xref: ICD9:446.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:13378"} -xref: MedDRA:10023320 {source="Orphanet:2331", source="ORDO:2331/e"} +xref: MedDRA:10023320 {source="Orphanet:2331", source="Orphanet:2331/e"} xref: MESH:D009080 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"} xref: NCIT:C34825 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"} -xref: OMIM:611775 {source="Orphanet:2331", source="ORDO:2331/e", source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"} +xref: OMIM:611775 {source="Orphanet:2331", source="EFO:0004246", source="MONDO:equivalentTo", source="Orphanet:2331/e", source="DOID:13378"} xref: Orphanet:2331 {source="MONDO:equivalentTo", source="OMIM:611775"} xref: SCTID:155444003 {source="DOID:13378"} xref: SCTID:195348009 {source="DOID:13378"} @@ -252445,7 +252334,7 @@ xref: OMIM:611783 {source="MONDO:equivalentTo", source="DOID:0080339"} xref: Orphanet:247511 {source="MONDO:subClassOf", source="OMIM:611783"} xref: UMLS:C2673187 {source="OMIM:611783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001115 {source="DC-OMIM:611783", source="DOID:0080339", source="OMIM:611783", source="indirect"} ! familial polycythemia -is_a: MONDO:0016599 {source="ORDO:247511/btnt"} ! autosomal dominant secondary polycythemia +is_a: MONDO:0016599 {source="Orphanet:247511/btnt"} ! autosomal dominant secondary polycythemia intersection_of: MONDO:0001115 ! familial polycythemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3374 ! EPAS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3374 {source="mim2gene_medgen"} ! EPAS1 @@ -252465,7 +252354,7 @@ xref: MESH:C567085 {source="MONDO:equivalentTo"} xref: OMIM:611788 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:611788"} xref: UMLS:C2673186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611788"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:611788", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:611788", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/130 ! ACTA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/130 {source="mim2gene_medgen"} ! ACTA2 @@ -252517,9 +252406,9 @@ synonym: "bestrophinopathy" EXACT [DOID:0050662] synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611809] synonym: "retinopathy, Burgess-Black type" EXACT [Orphanet:139455] xref: DOID:0050662 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="ORDO:139455/attributed", source="ORDO:139455/ntbt", source="MONDO:directSiblingOf", source="Orphanet:139455"} +xref: ICD10CM:H35.5 {source="Orphanet:139455/attributed", source="Orphanet:139455/ntbt", source="MONDO:directSiblingOf", source="Orphanet:139455"} xref: MESH:C567518 {source="MONDO:equivalentTo"} -xref: OMIM:611809 {source="DOID:0050662", source="MONDO:equivalentTo", source="Orphanet:139455", source="ORDO:139455/e"} +xref: OMIM:611809 {source="DOID:0050662", source="Orphanet:139455/e", source="MONDO:equivalentTo", source="Orphanet:139455"} xref: Orphanet:139455 {source="OMIM:611809", source="MONDO:equivalentTo"} xref: SCTID:723828008 {source="MONDO:equivalentTo"} xref: UMLS:C2678493 {source="OMIM:611809", source="MONDO:equivalentTo"} @@ -252540,10 +252429,10 @@ synonym: "SERKAL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611812] synonym: "SERKAL syndrome" EXACT [OMIM:611812] synonym: "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" EXACT [Orphanet:139466] xref: GARD:0010302 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:139466/attributed", source="ORDO:139466/ntbt", source="Orphanet:139466"} +xref: ICD10CM:Q87.8 {source="Orphanet:139466/attributed", source="Orphanet:139466/ntbt", source="Orphanet:139466"} xref: MESH:C567517 {source="MONDO:equivalentTo"} xref: NCIT:C123726 {source="MONDO:equivalentTo"} -xref: OMIM:611812 {source="MONDO:equivalentTo", source="Orphanet:139466", source="ORDO:139466/e"} +xref: OMIM:611812 {source="Orphanet:139466/e", source="MONDO:equivalentTo", source="Orphanet:139466"} xref: Orphanet:139466 {source="MONDO:equivalentTo", source="OMIM:611812"} xref: SCTID:723720008 {source="MONDO:equivalentTo"} xref: UMLS:C2678492 {source="NCIT:C123726", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611812", source="Orphanet:139466"} @@ -252565,9 +252454,9 @@ synonym: "Temple-Baraitser syndrome" EXACT [MONDO:Lexical, OMIM:611816] synonym: "TMBTS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611816, Orphanet:420561] xref: EFO:0009062 {source="MONDO:equivalentTo"} xref: GARD:0009441 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:420561", source="ORDO:420561/attributed", source="ORDO:420561/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:420561", source="Orphanet:420561/attributed", source="Orphanet:420561/ntbt"} xref: MESH:C567516 {source="MONDO:equivalentTo"} -xref: OMIM:611816 {source="Orphanet:420561", source="MONDO:equivalentTo", source="ORDO:420561/e"} +xref: OMIM:611816 {source="Orphanet:420561", source="MONDO:equivalentTo", source="Orphanet:420561/e"} xref: Orphanet:420561 {source="MONDO:equivalentTo", source="OMIM:611816"} xref: UMLS:C2678486 {source="Orphanet:420561", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611816"} is_a: MONDO:0003847 {source="OMIM:611816"} ! Mendelian disease @@ -252627,7 +252516,7 @@ xref: Orphanet:101016 {source="MONDO:subClassOf", source="OMIM:611819", source=" xref: Orphanet:334 {source="OMIM:611819", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:768 {source="MONDO:subClassOf", source="OMIM:611819"} xref: UMLS:C2678484 {source="OMIM:611819", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019171 {source="OMIM:611819", source="ORDO:768/btnt"} ! familial long QT syndrome +is_a: MONDO:0019171 {source="OMIM:611819", source="Orphanet:768/btnt"} ! familial long QT syndrome intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10592 ! SCN4B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10592 {source="mim2gene_medgen"} ! SCN4B @@ -252670,9 +252559,9 @@ synonym: "Balikova-Vermeesch syndrome" EXACT [Orphanet:139450] synonym: "microtia eye coloboma and imperforation of the nasolacrimal duct" RELATED [GARD:0010300] synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [OMIM:611863] xref: GARD:0010300 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q15.8 {source="ORDO:139450/attributed", source="ORDO:139450/ntbt", source="Orphanet:139450"} +xref: ICD10CM:Q15.8 {source="Orphanet:139450/attributed", source="Orphanet:139450/ntbt", source="Orphanet:139450"} xref: MESH:C567512 {source="MONDO:equivalentTo"} -xref: OMIM:611863 {source="MONDO:equivalentTo", source="ORDO:139450/e", source="Orphanet:139450"} +xref: OMIM:611863 {source="Orphanet:139450/e", source="MONDO:equivalentTo", source="Orphanet:139450"} xref: Orphanet:139450 {source="MONDO:equivalentTo", source="OMIM:611863"} xref: UMLS:C2678482 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611863", source="Orphanet:139450"} is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye @@ -252689,9 +252578,9 @@ synonym: "distal chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:611867] synonym: "distal del(22)(q11.2)" EXACT [Orphanet:261330] synonym: "distal monosomy 22q11.2" EXACT [Orphanet:261330] xref: DOID:0060413 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:261330", source="ORDO:261330/attributed", source="ORDO:261330/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261330/attributed", source="Orphanet:261330/ntbt", source="Orphanet:261330"} xref: MESH:C567511 {source="MONDO:equivalentTo"} -xref: OMIM:611867 {source="Orphanet:261330", source="ORDO:261330/e", source="DOID:0060413", source="MONDO:equivalentTo"} +xref: OMIM:611867 {source="Orphanet:261330", source="DOID:0060413", source="MONDO:equivalentTo", source="Orphanet:261330/e"} xref: Orphanet:261330 {source="DOID:0060413", source="MONDO:equivalentTo", source="OMIM:611867"} xref: SCTID:734029004 {source="MONDO:equivalentTo"} xref: UMLS:C2678480 {source="Orphanet:261330", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611867"} @@ -252860,13 +252749,13 @@ synonym: "GSD type XII" EXACT [Orphanet:57] synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611881] synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881] xref: GARD:0000600 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:57", source="ORDO:57/attributed", source="ORDO:57/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:57/attributed", source="Orphanet:57/ntbt", source="Orphanet:57"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562718 {source="MONDO:equivalentTo"} -xref: OMIM:611881 {source="ORDO:57/e", source="Orphanet:57", source="MONDO:equivalentTo"} +xref: OMIM:611881 {source="Orphanet:57", source="MONDO:equivalentTo", source="Orphanet:57/e"} xref: Orphanet:57 {source="OMIM:611881", source="MONDO:equivalentTo"} xref: SCTID:111578003 {source="MONDO:equivalentTo"} -xref: UMLS:C0272066 {source="ORDO:57/e", source="OMIM:611881", source="NCBI:mim2gene_medline", source="Orphanet:57", source="MONDO:equivalentTo"} +xref: UMLS:C0272066 {source="OMIM:611881", source="NCBI:mim2gene_medline", source="Orphanet:57", source="MONDO:equivalentTo", source="Orphanet:57/e"} is_a: MONDO:0002412 {source="DC-OMIM:611881", source="MESH:C562718", source="Orphanet:57"} ! glycogen storage disease is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder @@ -252914,7 +252803,7 @@ synonym: "LAAHD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611890, Orphanet:53696] synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical, OMIM:611890] synonym: "Vuopala disease" EXACT [Orphanet:53696] xref: MESH:C567502 {source="MONDO:equivalentTo"} -xref: OMIM:611890 {source="Orphanet:53696", source="MONDO:equivalentTo", source="ORDO:53696/e"} +xref: OMIM:611890 {source="Orphanet:53696", source="MONDO:equivalentTo", source="Orphanet:53696/e"} xref: Orphanet:53696 {source="OMIM:611890", source="MONDO:equivalentTo"} xref: SCTID:715565004 {source="MONDO:equivalentTo"} xref: UMLS:C2678471 {source="Orphanet:53696", source="OMIM:611890", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -252933,7 +252822,7 @@ xref: MESH:C567501 {source="MONDO:equivalentTo"} xref: OMIM:611891 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="MONDO:subClassOf", source="OMIM:611891"} xref: UMLS:C2678470 {source="OMIM:611891", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007031 {source="OMIM:611891", source="ORDO:86/btnt"} ! familial abdominal aortic aneurysm +is_a: MONDO:0007031 {source="OMIM:611891", source="Orphanet:86/btnt"} ! familial abdominal aortic aneurysm relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.144117647058823" xsd:double @@ -252981,7 +252870,7 @@ xref: OMIM:611897 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="MONDO:subClassOf", source="OMIM:611897"} xref: UMLS:C2678467 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611897"} is_a: MONDO:0005514 {source="DC-OMIM:611897"} ! nanophthalmia -is_a: MONDO:0021129 {source="MESH:C567498", source="MONDO:Redundant", source="OMIM:611897", source="ORDO:35612/btnt", source="indirect"} ! microphthalmia +is_a: MONDO:0021129 {source="MESH:C567498", source="MONDO:Redundant", source="OMIM:611897", source="Orphanet:35612/btnt", source="indirect"} ! microphthalmia property_value: confidence "1.9907692307692297" xsd:double [Term] @@ -252992,9 +252881,9 @@ subset: ordo_disease {source="Orphanet:209970"} synonym: "EA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611907] synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907] xref: DOID:0050995 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:209970/attributed", source="ORDO:209970/ntbt", source="Orphanet:209970"} +xref: ICD10CM:G11.8 {source="Orphanet:209970", source="Orphanet:209970/attributed", source="Orphanet:209970/ntbt"} xref: MESH:C567459 {source="MONDO:equivalentTo"} -xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="ORDO:209970/e"} +xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="Orphanet:209970/e"} xref: Orphanet:209970 {source="OMIM:611907", source="MONDO:equivalentTo"} xref: SCTID:718752007 {source="MONDO:equivalentTo"} xref: UMLS:C2677843 {source="OMIM:611907", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:209970"} @@ -253020,11 +252909,11 @@ synonym: "monosomy 16p11.2" RELATED [GARD:0010740] synonym: "proximal del(16)(p11.2)" EXACT [Orphanet:261197] synonym: "proximal monosomy 16p11.2" EXACT [Orphanet:261197] xref: GARD:0010740 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:261197", source="ORDO:261197/attributed", source="ORDO:261197/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261197/attributed", source="Orphanet:261197/ntbt", source="Orphanet:261197"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C579850 {source="MONDO:equivalentTo"} xref: NCIT:C120408 {source="MONDO:equivalentTo"} -xref: OMIM:611913 {source="ORDO:261197/e", source="GARD:0010740", source="Orphanet:261197", source="MONDO:equivalentTo"} +xref: OMIM:611913 {source="GARD:0010740", source="Orphanet:261197", source="MONDO:equivalentTo", source="Orphanet:261197/e"} xref: Orphanet:106 {source="OMIM:611913"} xref: Orphanet:261197 {source="GARD:0010740", source="MONDO:equivalentTo", source="OMIM:611913"} xref: SCTID:699307007 {source="MONDO:equivalentTo"} @@ -253049,8 +252938,8 @@ name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome def: "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." [Orphanet:137631] subset: ordo_disease {source="Orphanet:137631"} synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [OMIM:611926] -xref: ICD10CM:D82.8 {source="Orphanet:137631", source="ORDO:137631/attributed", source="ORDO:137631/ntbt"} -xref: OMIM:611926 {source="Orphanet:137631", source="ORDO:137631/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D82.8 {source="Orphanet:137631", source="Orphanet:137631/attributed", source="Orphanet:137631/ntbt"} +xref: OMIM:611926 {source="Orphanet:137631", source="MONDO:equivalentTo", source="Orphanet:137631/e"} xref: Orphanet:137631 {source="MONDO:equivalentTo", source="OMIM:611926"} xref: SCTID:721977007 {source="MONDO:equivalentTo"} xref: UMLS:C3150156 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611926"} @@ -253130,7 +253019,7 @@ synonym: "trisomy 3q29" EXACT [DOID:0060459, Orphanet:251038] xref: DOID:0060459 {source="MONDO:equivalentTo"} xref: GARD:0010360 {source="MONDO:equivalentTo"} xref: MESH:C567626 {source="MONDO:equivalentTo", source="DOID:0060459"} -xref: OMIM:611936 {source="MONDO:equivalentTo", source="DOID:0060459", source="Orphanet:251038", source="ORDO:251038/e"} +xref: OMIM:611936 {source="MONDO:equivalentTo", source="DOID:0060459", source="Orphanet:251038", source="Orphanet:251038/e"} xref: Orphanet:251038 {source="MONDO:equivalentTo", source="DOID:0060459", source="OMIM:611936"} xref: SCTID:717973004 {source="MONDO:equivalentTo"} xref: UMLS:C2749873 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251038", source="OMIM:611936"} @@ -253199,9 +253088,9 @@ synonym: "RIDDLE syndrome" EXACT CLINGEN_PREFERRED [OMIM:611943] synonym: "RNF168 deficiency" EXACT [DOID:0090113, Orphanet:420741] xref: DOID:0090113 {source="MONDO:equivalentTo"} xref: EFO:0009055 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.8 {source="Orphanet:420741", source="DOID:0090113", source="ORDO:420741/attributed", source="ORDO:420741/ntbt"} +xref: ICD10CM:D82.8 {source="Orphanet:420741/attributed", source="Orphanet:420741/ntbt", source="Orphanet:420741", source="DOID:0090113"} xref: MESH:C567453 {source="MONDO:equivalentTo"} -xref: OMIM:611943 {source="ORDO:420741/e", source="Orphanet:420741", source="DOID:0090113", source="MONDO:equivalentTo"} +xref: OMIM:611943 {source="Orphanet:420741", source="DOID:0090113", source="MONDO:equivalentTo", source="Orphanet:420741/e"} xref: Orphanet:420741 {source="DOID:0090113", source="MONDO:equivalentTo", source="OMIM:611943"} xref: UMLS:C2677792 {source="NCBI:mim2gene_medline", source="Orphanet:420741", source="MONDO:equivalentTo", source="OMIM:611943"} is_a: MONDO:0015244 {source="EFO:0009055", source="Orphanet:420741"} ! autosomal recessive cerebellar ataxia @@ -253218,7 +253107,7 @@ xref: MESH:C567452 {source="MONDO:equivalentTo"} xref: OMIM:611944 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:subClassOf", source="OMIM:611944"} xref: UMLS:C2677787 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611944"} -is_a: MONDO:0019313 {source="OMIM:611944", source="ORDO:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="OMIM:611944", source="Orphanet:79452/btnt"} ! lymphatic malformation [Term] id: MONDO:0012766 @@ -253231,12 +253120,12 @@ synonym: "hereditary spastic paraplegia type 37" EXACT [DOID:0110788, MONDORULE: synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611945] synonym: "SPG37" EXACT ABBREVIATION [DOID:0110788, MONDO:Lexical, OMIM:611945, Orphanet:171612] xref: DOID:0110788 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110788", source="ORDO:171612/attributed", source="ORDO:171612/ntbt", source="Orphanet:171612"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110788", source="Orphanet:171612/attributed", source="Orphanet:171612/ntbt", source="Orphanet:171612"} xref: MESH:C567931 {source="MONDO:equivalentTo"} -xref: OMIM:611945 {source="DOID:0110788", source="MONDO:equivalentTo", source="ORDO:171612/e", source="Orphanet:171612"} +xref: OMIM:611945 {source="DOID:0110788", source="Orphanet:171612/e", source="MONDO:equivalentTo", source="Orphanet:171612"} xref: Orphanet:171612 {source="DOID:0110788", source="MONDO:equivalentTo", source="OMIM:611945"} xref: SCTID:763369007 {source="MONDO:equivalentTo"} -xref: UMLS:C2936880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611945", source="ORDO:171612/e", source="Orphanet:171612"} +xref: UMLS:C2936880 {source="NCBI:mim2gene_medline", source="Orphanet:171612/e", source="MONDO:equivalentTo", source="OMIM:611945", source="Orphanet:171612"} is_a: MONDO:0015088 {source="Orphanet:171612"} ! autosomal dominant pure spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110788", source="MESH:C567931", source="MONDO:Redundant", source="OMIM:611945", source="Orphanet:171612/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double @@ -253351,9 +253240,9 @@ synonym: "microdeletion 15q13.3 syndrome" RELATED [GARD:0010296] synonym: "monosomy 15q13.3" EXACT [Orphanet:199318] xref: DOID:0060394 {source="MONDO:equivalentTo"} xref: GARD:0010296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:199318/attributed", source="ORDO:199318/ntbt", source="Orphanet:199318", source="DOID:0060394"} +xref: ICD10CM:Q93.5 {source="Orphanet:199318", source="Orphanet:199318/attributed", source="Orphanet:199318/ntbt", source="DOID:0060394"} xref: MESH:C567439 {source="MONDO:equivalentTo", source="DOID:0060394"} -xref: OMIM:612001 {source="MONDO:equivalentTo", source="Orphanet:199318", source="ORDO:199318/e", source="DOID:0060394"} +xref: OMIM:612001 {source="Orphanet:199318/e", source="MONDO:equivalentTo", source="Orphanet:199318", source="DOID:0060394"} xref: Orphanet:199318 {source="OMIM:612001", source="MONDO:equivalentTo", source="DOID:0060394"} xref: SCTID:699254009 {source="MONDO:equivalentTo"} xref: UMLS:C2677613 {source="OMIM:612001", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199318"} @@ -253384,7 +253273,7 @@ xref: OMIM:612004 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="MONDO:subClassOf", source="OMIM:612004"} xref: Orphanet:268322 {source="MONDO:subClassOf", source="OMIM:612004"} xref: UMLS:C2677608 {source="NCBI:mim2gene_medline", source="OMIM:612004", source="MONDO:equivalentTo"} -is_a: MONDO:0015679 {source="ORDO:168629/btnt"} ! autosomal thrombocytopenia with normal platelets +is_a: MONDO:0015679 {source="Orphanet:168629/btnt"} ! autosomal thrombocytopenia with normal platelets is_a: MONDO:0100241 {source="DC-OMIM:612004", source="MESH:C567438", source="MONDO:Redundant", source="indirect"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19986 ! CYCS @@ -253494,9 +253383,9 @@ synonym: "Man5GlcNAc2-PP-Dol flippase deficiency" EXACT [Orphanet:244310] synonym: "RFT1-CDG (CDG-In)" RELATED [GARD:0012394] xref: DOID:0080566 {source="MONDO:equivalentTo"} xref: GARD:0012394 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:244310", source="ORDO:244310/attributed", source="ORDO:244310/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:244310/attributed", source="Orphanet:244310/ntbt", source="Orphanet:244310"} xref: MESH:C567437 {source="MONDO:equivalentTo"} -xref: OMIM:612015 {source="ORDO:244310/e", source="Orphanet:244310", source="MONDO:equivalentTo"} +xref: OMIM:612015 {source="Orphanet:244310", source="MONDO:equivalentTo", source="Orphanet:244310/e"} xref: Orphanet:244310 {source="OMIM:612015", source="MONDO:equivalentTo"} xref: SCTID:733084000 {source="MONDO:equivalentTo"} xref: UMLS:C2677590 {source="Orphanet:244310", source="NCBI:mim2gene_medline", source="OMIM:612015", source="MONDO:equivalentTo"} @@ -253529,9 +253418,9 @@ synonym: "SCAR9" EXACT ABBREVIATION [Orphanet:139485] synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [OMIM:612016] xref: DOID:0070241 {source="MONDO:equivalentTo"} xref: GARD:0010294 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G11.1 {source="ORDO:139485/attributed", source="ORDO:139485/ntbt", source="Orphanet:139485"} +xref: ICD10CM:G11.1 {source="Orphanet:139485/attributed", source="Orphanet:139485/ntbt", source="Orphanet:139485"} xref: MESH:C567436 {source="MONDO:equivalentTo"} -xref: OMIM:612016 {source="MONDO:equivalentTo", source="ORDO:139485/e", source="Orphanet:139485"} +xref: OMIM:612016 {source="Orphanet:139485/e", source="MONDO:equivalentTo", source="Orphanet:139485"} xref: Orphanet:139485 {source="OMIM:612016", source="MONDO:equivalentTo"} xref: SCTID:725394006 {source="MONDO:equivalentTo"} xref: UMLS:C2677589 {source="OMIM:612016", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139485"} @@ -253570,7 +253459,7 @@ synonym: "CTRCT47" RELATED ABBREVIATION [OMIM:612018] synonym: "juvenile cataract-microcornea-renal glucosuria syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0070353 {source="MONDO:equivalentTo"} xref: MESH:C567434 {source="MONDO:equivalentTo"} -xref: OMIM:612018 {source="MONDO:equivalentTo", source="Orphanet:247794", source="ORDO:247794/e"} +xref: OMIM:612018 {source="Orphanet:247794/e", source="MONDO:equivalentTo", source="Orphanet:247794"} xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"} xref: SCTID:722457005 {source="MONDO:equivalentTo"} xref: UMLS:C2677587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612018"} @@ -253602,9 +253491,9 @@ synonym: "spastic paraplegia due to NTE mutation" EXACT [DOID:0110790, Orphanet: synonym: "SPG39" EXACT ABBREVIATION [DOID:0110790, MONDO:Lexical, OMIM:612020, Orphanet:139480] xref: DOID:0110790 {source="MONDO:equivalentTo"} xref: GARD:0004924 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:139480/attributed", source="ORDO:139480/ntbt", source="Orphanet:139480", source="DOID:0110790"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/attributed", source="Orphanet:139480/ntbt"} xref: MESH:C567433 {source="MONDO:equivalentTo"} -xref: OMIM:612020 {source="MONDO:equivalentTo", source="Orphanet:139480", source="ORDO:139480/e", source="DOID:0110790"} +xref: OMIM:612020 {source="MONDO:equivalentTo", source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/e"} xref: Orphanet:139480 {source="MONDO:equivalentTo", source="DOID:0110790", source="OMIM:612020"} xref: SCTID:719103009 {source="MONDO:equivalentTo"} xref: UMLS:C2677586 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:139480", source="OMIM:612020"} @@ -253645,9 +253534,9 @@ synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/d synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539] xref: DOID:0090048 {source="MONDO:equivalentTo"} xref: GARD:0010539 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="Orphanet:210571", source="DOID:0090048", source="ORDO:210571/attributed", source="ORDO:210571/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:210571", source="Orphanet:210571/attributed", source="Orphanet:210571/ntbt", source="DOID:0090048"} xref: MESH:C567430 {source="MONDO:equivalentTo"} -xref: OMIM:612067 {source="Orphanet:210571", source="MONDO:equivalentTo", source="DOID:0090048", source="ORDO:210571/e"} +xref: OMIM:612067 {source="Orphanet:210571", source="MONDO:equivalentTo", source="Orphanet:210571/e", source="DOID:0090048"} xref: Orphanet:210571 {source="OMIM:612067", source="MONDO:equivalentTo", source="DOID:0090048"} xref: SCTID:722435003 {source="MONDO:equivalentTo"} xref: UMLS:C2677567 {source="OMIM:612067", source="Orphanet:210571", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -253691,7 +253580,7 @@ xref: UMLS:C3150169 {source="OMIM:612069", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C3150171 {source="OMIM:612069", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3502417 {source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:612069"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="ORDO:275872/btnt"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11571 ! TARDBP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11571 {source="mim2gene_medgen"} ! TARDBP @@ -253718,9 +253607,9 @@ synonym: "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic a synonym: "MTDPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612073] xref: DOID:0080124 {source="MONDO:equivalentTo"} xref: GARD:0003681 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:1933/attributed", source="ORDO:1933/ntbt", source="Orphanet:1933"} +xref: ICD10CM:G71.3 {source="Orphanet:1933/attributed", source="Orphanet:1933/ntbt", source="Orphanet:1933"} xref: MESH:C567624 {source="MONDO:equivalentTo"} -xref: OMIM:612073 {source="MONDO:equivalentTo", source="DOID:0080124", source="ORDO:1933/e", source="Orphanet:1933", source="GARD:0003681"} +xref: OMIM:612073 {source="Orphanet:1933/e", source="MONDO:equivalentTo", source="DOID:0080124", source="Orphanet:1933", source="GARD:0003681"} xref: Orphanet:1933 {source="MONDO:equivalentTo", source="GARD:0003681", source="OMIM:612073"} xref: Orphanet:254803 {source="MONDO:subClassOf", source="OMIM:612073"} xref: UMLS:C2749864 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0003681", source="OMIM:612073"} @@ -253751,8 +253640,8 @@ synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_patter synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200] xref: DOID:0080127 {source="MONDO:equivalentTo"} xref: GARD:0013200 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G31.8 {source="Orphanet:255235", source="ORDO:255235/attributed", source="ORDO:255235/ntbt"} -xref: OMIM:612075 {source="ORDO:255235/e", source="Orphanet:255235", source="MONDO:equivalentTo", source="DOID:0080127"} +xref: ICD10CM:G31.8 {source="Orphanet:255235/attributed", source="Orphanet:255235/ntbt", source="Orphanet:255235"} +xref: OMIM:612075 {source="Orphanet:255235", source="MONDO:equivalentTo", source="DOID:0080127", source="Orphanet:255235/e"} xref: Orphanet:254803 {source="MONDO:subClassOf", source="OMIM:612075"} xref: Orphanet:255235 {source="MONDO:equivalentTo", source="OMIM:612075"} xref: Orphanet:298 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:612075"} @@ -253782,7 +253671,7 @@ xref: Orphanet:94088 {source="MONDO:subClassOf", source="OMIM:612076"} xref: UMLS:C2677549 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612076"} xref: UMLS:C2677550 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612076"} xref: UMLS:C2677551 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612076"} -is_a: MONDO:0009071 {source="MONDO:Redundant", source="ORDO:94088/btnt"} ! hereditary renal hypouricemia +is_a: MONDO:0009071 {source="MONDO:Redundant", source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia intersection_of: MONDO:0009071 ! hereditary renal hypouricemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13446 ! SLC2A9 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13446 {source="mim2gene_medgen"} ! SLC2A9 @@ -253799,7 +253688,7 @@ synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXAC synonym: "ANE syndrome" EXACT [OMIM:612079] synonym: "anes" RELATED [MONDO:Lexical, OMIM:612079] xref: MESH:C567425 {source="MONDO:equivalentTo"} -xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source="ORDO:157954/e"} +xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source="Orphanet:157954/e"} xref: Orphanet:157954 {source="OMIM:612079", source="MONDO:equivalentTo"} xref: UMLS:C2677535 {source="OMIM:612079", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157954"} is_a: MONDO:0000508 {source="Orphanet:157954"} ! syndromic intellectual disability @@ -253904,7 +253793,7 @@ xref: MESH:C567418 {source="MONDO:equivalentTo"} xref: OMIM:612099 {source="MONDO:equivalentTo"} xref: Orphanet:867 {source="MONDO:subClassOf", source="OMIM:612099"} xref: UMLS:C2677505 {source="OMIM:612099", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011114 {source="ORDO:867/btnt"} ! familial multiple trichoepithelioma +is_a: MONDO:0011114 {source="Orphanet:867/btnt"} ! familial multiple trichoepithelioma property_value: confidence "2.2142272727272725" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2 xsd:anyURI {source="GARD:0010373"} @@ -253938,9 +253827,9 @@ synonym: "oculoauricular syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM: synonym: "oculoauricular syndrome, Schorderet type" RELATED [Orphanet:157962] synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [OMIM:612109] xref: DOID:0060482 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:157962", source="ORDO:157962/attributed", source="ORDO:157962/ntbt", source="DOID:0060482"} +xref: ICD10CM:Q87.8 {source="Orphanet:157962/attributed", source="Orphanet:157962/ntbt", source="Orphanet:157962", source="DOID:0060482"} xref: MESH:C567416 {source="MONDO:equivalentTo", source="DOID:0060482"} -xref: OMIM:612109 {source="ORDO:157962/e", source="Orphanet:157962", source="MONDO:equivalentTo", source="DOID:0060482"} +xref: OMIM:612109 {source="Orphanet:157962", source="MONDO:equivalentTo", source="Orphanet:157962/e", source="DOID:0060482"} xref: Orphanet:157962 {source="MONDO:equivalentTo", source="OMIM:612109", source="DOID:0060482"} xref: UMLS:C2677500 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612109"} is_a: MONDO:0016073 {source="Orphanet:157962"} ! syndromic microphthalmia @@ -253956,10 +253845,10 @@ synonym: "isolated trehalose intolerance" EXACT [Orphanet:103909] synonym: "trehalase deficiency" RELATED [OMIM:612119] synonym: "trehalose intolerance" RELATED [OMIM:612119] xref: GARD:0010372 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E74.3 {source="Orphanet:103909", source="ORDO:103909/attributed", source="ORDO:103909/ntbt"} +xref: ICD10CM:E74.3 {source="Orphanet:103909", source="Orphanet:103909/attributed", source="Orphanet:103909/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562603 {source="MONDO:equivalentTo"} -xref: OMIM:612119 {source="Orphanet:103909", source="MONDO:equivalentTo", source="ORDO:103909/e"} +xref: OMIM:612119 {source="Orphanet:103909", source="MONDO:equivalentTo", source="Orphanet:103909/e"} xref: Orphanet:103909 {source="MONDO:equivalentTo", source="OMIM:612119"} xref: SCTID:84193000 {source="MONDO:equivalentTo"} xref: UMLS:C0268187 {source="Orphanet:103909", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612119"} @@ -254018,9 +253907,9 @@ synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:61 synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090045 {source="MONDO:equivalentTo"} xref: GARD:0010541 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G24.8 {source="DOID:0090045", source="Orphanet:98811", source="ORDO:98811/attributed", source="ORDO:98811/ntbt"} +xref: ICD10CM:G24.8 {source="Orphanet:98811/attributed", source="Orphanet:98811/ntbt", source="DOID:0090045", source="Orphanet:98811"} xref: MESH:C564288 {source="MONDO:equivalentTo"} -xref: OMIM:612126 {source="ORDO:98811/e", source="DOID:0090045", source="Orphanet:98811", source="MONDO:equivalentTo"} +xref: OMIM:612126 {source="DOID:0090045", source="Orphanet:98811", source="MONDO:equivalentTo", source="Orphanet:98811/e"} xref: Orphanet:98811 {source="DOID:0090045", source="OMIM:612126", source="MONDO:equivalentTo"} xref: SCTID:724072002 {source="MONDO:equivalentTo"} xref: UMLS:C1842534 {source="OMIM:612126", source="Orphanet:98811", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -254039,7 +253928,7 @@ xref: OMIM:612132 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:612132"} xref: Orphanet:98813 {source="MONDO:subClassOf", source="OMIM:612132"} xref: UMLS:C2677481 {source="OMIM:612132", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010293 {source="ORDO:98813/btnt"} ! ectodermal dysplasia and immune deficiency +is_a: MONDO:0010293 {source="Orphanet:98813/btnt"} ! ectodermal dysplasia and immune deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7797 {source="mim2gene_medgen"} ! NFKBIA property_value: confidence "1.013902333975493" xsd:double @@ -254053,9 +253942,9 @@ synonym: "EBS-PA" EXACT [Orphanet:158684] synonym: "EBSPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612138] synonym: "epidermolysis bullosa simplex 5C, with pyloric atresia" EXACT [OMIM:612138, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158684", source="ORDO:158684/attributed", source="ORDO:158684/ntbt"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158684", source="Orphanet:158684/attributed", source="Orphanet:158684/ntbt"} xref: MESH:C567408 {source="MONDO:equivalentTo"} -xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source="ORDO:158684/e"} +xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source="Orphanet:158684/e"} xref: Orphanet:158684 {source="MONDO:equivalentTo", source="OMIM:612138"} xref: SCTID:716701004 {source="MONDO:equivalentTo"} xref: UMLS:C2677349 {source="Orphanet:158684", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612138"} @@ -254164,7 +254053,7 @@ is_a: MONDO:0100062 {source="MONDO:Redundant", source="OMIM:612164", source="ind intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11444 ! STXBP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11444 {source="mim2gene_medgen"} ! STXBP1 -relationship: excluded_subClassOf MONDO:0100135 {source="ORDO:33069/btnt"} ! Dravet syndrome +relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt"} ! Dravet syndrome relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "6.200000000000001" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 xsd:anyURI {source="GARD:0012900"} @@ -254205,10 +254094,10 @@ subset: ordo_disease {source="Orphanet:313838"} synonym: "cerebroretinal microangiopathy with calcfications and cysts" EXACT [OMIMPS:612199] synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, OMIM:612199, Orphanet:313838] synonym: "CRMCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612199, Orphanet:313838] -xref: ICD10CM:H35.0 {source="ORDO:313838/attributed", source="ORDO:313838/ntbt", source="Orphanet:313838"} +xref: ICD10CM:H35.0 {source="Orphanet:313838/attributed", source="Orphanet:313838/ntbt", source="Orphanet:313838"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567401 {source="MONDO:equivalentTo"} -xref: OMIM:612199 {source="MONDO:superClassOf", source="ORDO:313838/e", source="Orphanet:313838"} +xref: OMIM:612199 {source="Orphanet:313838/e", source="MONDO:superClassOf", source="Orphanet:313838"} xref: OMIM:617341 {source="MONDO:superClassOf", source="Orphanet:313838"} xref: OMIMPS:612199 {source="MONDO:equivalentTo"} xref: Orphanet:313838 {source="OMIM:612199", source="MONDO:equivalentTo"} @@ -254266,15 +254155,15 @@ xref: DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo", source="MOND xref: DOID:3369 {source="MONDO:equivalentTo"} xref: EFO:0000174 {source="MONDO:equivalentTo"} xref: GARD:0006390 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C40.0 {source="ORDO:319/ntbt", source="Orphanet:319"} -xref: ICD10CM:C40.1 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"} -xref: ICD10CM:C40.2 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"} -xref: ICD10CM:C40.3 {source="MONDO:relatedTo", source="ORDO:319/ntbt", source="Orphanet:319"} -xref: ICD10CM:C41.2 {source="ORDO:319/ntbt", source="Orphanet:319"} -xref: ICD10CM:C41.3 {source="ORDO:319/ntbt", source="Orphanet:319"} -xref: ICD10CM:C41.4 {source="ORDO:319/ntbt", source="Orphanet:319"} +xref: ICD10CM:C40.0 {source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: ICD10CM:C40.1 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: ICD10CM:C40.2 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: ICD10CM:C40.3 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: ICD10CM:C41.2 {source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: ICD10CM:C41.3 {source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: ICD10CM:C41.4 {source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICDO:9260/3 {source="NCIT:C4817"} -xref: MedDRA:10015560 {source="ORDO:319/e", source="Orphanet:319"} +xref: MedDRA:10015560 {source="Orphanet:319", source="Orphanet:319/e"} xref: MESH:C563168 {source="DOID:3369"} xref: MESH:D012512 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"} xref: MESH:D018241 {source="DOID:3369"} @@ -254284,7 +254173,7 @@ xref: NCIT:C4817 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOI xref: NCIT:C7542 {source="MONDO:relatedTo", source="DOID:3369"} xref: NCIT:C7806 {source="DOID:3369"} xref: NCIT:C9341 {source="DOID:3369", source="MONDO:directSiblingOf"} -xref: OMIM:612219 {source="EFO:0000174", source="ORDO:319/e", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369"} +xref: OMIM:612219 {source="EFO:0000174", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369", source="Orphanet:319/e"} xref: ONCOTREE:ES {source="MONDO:equivalentTo"} xref: Orphanet:2677 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:612219"} xref: Orphanet:319 {source="MONDO:equivalentTo", source="OMIM:612219"} @@ -254436,9 +254325,9 @@ synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, Orphanet:2802 synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [OMIM:612233] synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789] xref: DOID:0060789 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="ORDO:280288/attributed", source="ORDO:280288/ntbt", source="DOID:0060789", source="Orphanet:280288"} +xref: ICD10CM:E75.2 {source="DOID:0060789", source="Orphanet:280288/attributed", source="Orphanet:280288/ntbt", source="Orphanet:280288"} xref: MESH:C567390 {source="MONDO:equivalentTo"} -xref: OMIM:612233 {source="MONDO:equivalentTo", source="DOID:0060789", source="ORDO:280288/e", source="Orphanet:280288"} +xref: OMIM:612233 {source="Orphanet:280288/e", source="MONDO:equivalentTo", source="DOID:0060789", source="Orphanet:280288"} xref: Orphanet:280270 {source="MONDO:subClassOf", source="OMIM:612233"} xref: Orphanet:280288 {source="OMIM:612233", source="MONDO:equivalentTo", source="DOID:0060789"} xref: UMLS:C2677109 {source="OMIM:612233", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -254461,15 +254350,15 @@ synonym: "extraskeletal chondrosarcoma" EXACT [NCIT:C27502] synonym: "myxoid extraosseous chondrosarcoma" EXACT [DOID:6496, NCIT:C27502] synonym: "myxoid extraskeletal chondrosarcoma" EXACT [NCIT:C27502] xref: DOID:6496 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="Orphanet:209916", source="ORDO:209916/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:209916/ntbt", source="Orphanet:209916"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563195 {source="MONDO:equivalentTo", source="DOID:6496"} xref: NCIT:C27502 {source="MONDO:equivalentTo", source="DOID:6496"} -xref: OMIM:612237 {source="Orphanet:209916", source="ORDO:209916/e", source="MONDO:equivalentTo", source="DOID:6496"} +xref: OMIM:612237 {source="Orphanet:209916", source="MONDO:equivalentTo", source="Orphanet:209916/e", source="DOID:6496"} xref: ONCOTREE:EMCHS {source="MONDO:equivalentTo"} xref: Orphanet:209916 {source="MONDO:equivalentTo", source="OMIM:612237"} xref: SCTID:404079008 {source="MONDO:equivalentTo", source="DOID:6496"} -xref: UMLS:C1275278 {source="Orphanet:209916", source="NCBI:mim2gene_medline", source="ORDO:209916/e", source="MONDO:equivalentTo", source="OMIM:612237", source="NCIT:C27502", source="DOID:6496"} +xref: UMLS:C1275278 {source="Orphanet:209916", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612237", source="NCIT:C27502", source="Orphanet:209916/e", source="DOID:6496"} is_a: MONDO:0018078 {source="NCIT:C27502", source="Orphanet:209916"} ! soft tissue sarcoma property_value: confidence "3.7222222222222223" xsd:double @@ -254550,9 +254439,9 @@ synonym: "juvenile polyposis, infantile" RELATED [OMIM:612242] synonym: "monosomy 10q22.3q23.3" EXACT [GARD:0013018, Orphanet:276413] xref: DOID:0060389 {source="MONDO:equivalentTo"} xref: GARD:0013018 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:276413/attributed", source="ORDO:276413/ntbt", source="Orphanet:276413"} +xref: ICD10CM:Q93.5 {source="Orphanet:276413", source="Orphanet:276413/attributed", source="Orphanet:276413/ntbt"} xref: MESH:C567385 {source="DOID:0060389", source="MONDO:equivalentTo"} -xref: OMIM:612242 {source="DOID:0060389", source="MONDO:equivalentTo", source="Orphanet:276413", source="ORDO:276413/e"} +xref: OMIM:612242 {source="DOID:0060389", source="MONDO:equivalentTo", source="Orphanet:276413", source="Orphanet:276413/e"} xref: Orphanet:276413 {source="MONDO:equivalentTo"} xref: Orphanet:2929 {source="OMIM:612242", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:79076 {source="OMIM:612242", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -254621,10 +254510,10 @@ synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical, OM synonym: "Crouzon-dermoskeletal syndrome" EXACT [DOID:0111161, Orphanet:93262] synonym: "Crouzonodermoskeletal syndrome" EXACT [DOID:0111161, OMIM:612247] xref: DOID:0111161 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.1 {source="Orphanet:93262", source="ORDO:93262/attributed", source="ORDO:93262/ntbt"} +xref: ICD10CM:Q75.1 {source="Orphanet:93262", source="Orphanet:93262/attributed", source="Orphanet:93262/ntbt"} xref: MESH:C567382 {source="MONDO:equivalentTo"} xref: NCIT:C38145 {source="MONDO:equivalentTo"} -xref: OMIM:612247 {source="Orphanet:93262", source="MONDO:equivalentTo", source="DOID:0111161", source="ORDO:93262/e"} +xref: OMIM:612247 {source="Orphanet:93262", source="MONDO:equivalentTo", source="DOID:0111161", source="Orphanet:93262/e"} xref: Orphanet:93262 {source="OMIM:612247", source="MONDO:equivalentTo", source="DOID:0111161"} xref: SCTID:702361006 {source="MONDO:equivalentTo"} xref: UMLS:C2677099 {source="Orphanet:93262", source="OMIM:612247", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -254732,9 +254621,9 @@ synonym: "MYD88D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612260] synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXACT [OMIM:612260] synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260] xref: GARD:0012638 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D84.8 {source="ORDO:183713/attributed", source="ORDO:183713/ntbt", source="Orphanet:183713"} +xref: ICD10CM:D84.8 {source="Orphanet:183713/attributed", source="Orphanet:183713/ntbt", source="Orphanet:183713"} xref: MESH:C567379 {source="MONDO:equivalentTo"} -xref: OMIM:612260 {source="MONDO:equivalentTo", source="Orphanet:183713", source="ORDO:183713/e"} +xref: OMIM:612260 {source="Orphanet:183713/e", source="MONDO:equivalentTo", source="Orphanet:183713"} xref: Orphanet:183713 {source="MONDO:equivalentTo", source="OMIM:612260"} xref: UMLS:C2677092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612260", source="Orphanet:183713"} is_a: MONDO:0015979 {source="Orphanet:183713"} ! hereditary predisposition to infections @@ -254884,8 +254773,8 @@ xref: Orphanet:313 {source="MONDO:subClassOf", source="OMIM:612281"} xref: Orphanet:79394 {source="MONDO:subClassOf", source="OMIM:612281"} xref: UMLS:C2677065 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612281"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:612281", source="indirect"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0017778 {source="ORDO:313/btnt"} ! lamellar ichthyosis -is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma +is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis +is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28018 ! NIPAL4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28018 {source="mim2gene_medgen"} ! NIPAL4 @@ -254952,7 +254841,7 @@ xref: Orphanet:244305 {source="MONDO:subClassOf", source="OMIM:612286"} xref: UMLS:C2676786 {source="OMIM:612286", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000079 {source="DC-OMIM:612286", source="MONDO:Redundant", source="OMIM:612286"} ! nephrolithiasis/osteoporosis, hypophosphatemic is_a: MONDO:0001343 {source="DOID:0080077"} ! impaired renal function disease -is_a: MONDO:0016579 {source="ORDO:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis +is_a: MONDO:0016579 {source="Orphanet:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11019 ! SLC34A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11019 {source="mim2gene_medgen"} ! SLC34A1 @@ -254974,7 +254863,7 @@ xref: Orphanet:244305 {source="MONDO:subClassOf", source="OMIM:612287"} xref: UMLS:C2676782 {source="OMIM:612287", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000079 {source="DC-OMIM:612287", source="MONDO:Redundant", source="OMIM:612287"} ! nephrolithiasis/osteoporosis, hypophosphatemic is_a: MONDO:0001343 {source="DOID:0080078"} ! impaired renal function disease -is_a: MONDO:0016579 {source="ORDO:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis +is_a: MONDO:0016579 {source="Orphanet:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11075 ! SLC9A3R1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11075 {source="mim2gene_medgen"} ! SLC9A3R1 @@ -255025,16 +254914,16 @@ synonym: "progeroid syndrome, congenital, Petty type" NARROW [OMIM:612289] synonym: "progeroid syndrome, Petty type" EXACT [GARD:0004497] xref: GARD:0000066 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0004497 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.8 {source="ORDO:2963/attributed", source="ORDO:2963/ntbt", source="Orphanet:2963"} -xref: ICD10CM:Q87.0 {source="ORDO:2095/ntbt", source="ORDO:2095/index", source="Orphanet:2095"} +xref: ICD10CM:E34.8 {source="Orphanet:2963", source="Orphanet:2963/attributed", source="Orphanet:2963/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2095/ntbt", source="Orphanet:2095", source="Orphanet:2095/index"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537290 {source="MONDO:equivalentTo", source="ORDO:2095/e", source="Orphanet:2095"} -xref: OMIM:233500 {source="MONDO:equivalentTo", source="ORDO:2095/e", source="Orphanet:2095"} -xref: OMIM:612289 {source="ORDO:2963/e", source="MONDO:equivalentTo", source="Orphanet:2963", source="MONDO:preferredExternal"} +xref: MESH:C537290 {source="Orphanet:2095/e", source="MONDO:equivalentTo", source="Orphanet:2095"} +xref: OMIM:233500 {source="Orphanet:2095/e", source="MONDO:equivalentTo", source="Orphanet:2095"} +xref: OMIM:612289 {source="MONDO:equivalentTo", source="Orphanet:2963", source="MONDO:preferredExternal", source="Orphanet:2963/e"} xref: Orphanet:2095 {source="MONDO:equivalentTo", source="OMIM:233500"} xref: Orphanet:2963 {source="OMIM:612289", source="MONDO:relatedTo"} xref: SCTID:205800003 {source="MONDO:equivalentTo"} -xref: UMLS:C0345382 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="ORDO:2095/e", source="OMIM:233500", source="Orphanet:2095"} +xref: UMLS:C0345382 {source="MONDO:relatedTo", source="Orphanet:2095/e", source="NCBI:mim2gene_medline", source="OMIM:233500", source="Orphanet:2095"} xref: UMLS:C2676780 {source="OMIM:612289", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931653 {source="MONDO:equivalentTo", source="Orphanet:2963"} is_a: MONDO:0015161 {source="Orphanet:2095", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -255053,9 +254942,9 @@ synonym: "microtia with or without hearing impairment" RELATED [OMIM:612290] synonym: "microtia with or without hearing impairment (AD)" EXACT [OMIM:612290, OMIM:genemap2] synonym: "microtia, hearing impairment, and cleft palate" RELATED [OMIM:612290] synonym: "microtia, hearing impairment, and cleft palate (AR)" EXACT [OMIM:612290, OMIM:genemap2] -xref: ICD10CM:Q87.0 {source="ORDO:140963/attributed", source="ORDO:140963/ntbt", source="Orphanet:140963"} +xref: ICD10CM:Q87.0 {source="Orphanet:140963", source="Orphanet:140963/attributed", source="Orphanet:140963/ntbt"} xref: MESH:C567359 {source="MONDO:equivalentTo"} -xref: OMIM:612290 {source="MONDO:equivalentTo", source="Orphanet:140963", source="ORDO:140963/e"} +xref: OMIM:612290 {source="Orphanet:140963/e", source="MONDO:equivalentTo", source="Orphanet:140963"} xref: Orphanet:140963 {source="MONDO:equivalentTo", source="OMIM:612290"} xref: UMLS:C2676772 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612290", source="Orphanet:140963"} xref: UMLS:C3808166 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612290"} @@ -255101,9 +254990,9 @@ synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [ synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED DEPRECATED [OMIM:612292] xref: DOID:0050675 {source="MONDO:equivalentTo"} xref: GARD:0010358 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:166108/attributed", source="ORDO:166108/ntbt", source="Orphanet:166108"} +xref: ICD10CM:Q87.8 {source="Orphanet:166108/attributed", source="Orphanet:166108/ntbt", source="Orphanet:166108"} xref: MESH:C567357 {source="MONDO:equivalentTo"} -xref: OMIM:612292 {source="DOID:0050675", source="MONDO:equivalentTo", source="ORDO:166108/e", source="Orphanet:166108"} +xref: OMIM:612292 {source="Orphanet:166108/e", source="DOID:0050675", source="MONDO:equivalentTo", source="Orphanet:166108"} xref: Orphanet:166108 {source="MONDO:equivalentTo", source="OMIM:612292"} xref: SCTID:764861005 {source="MONDO:equivalentTo"} xref: UMLS:C2676770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612292"} @@ -255127,7 +255016,7 @@ xref: OMIM:612293 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="MONDO:subClassOf", source="OMIM:612293"} xref: UMLS:C2676769 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612293"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:612293", source="indirect"} ! porokeratosis -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.1527777777777777" xsd:double @@ -255139,9 +255028,9 @@ synonym: "CD59 deficiency" RELATED [OMIM:612300] synonym: "HACD59" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612300] synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical, OMIM:612300] synonym: "primary CD59 deficiency" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:D84.1 {source="Orphanet:169464", source="ORDO:169464/attributed", source="ORDO:169464/ntbt"} +xref: ICD10CM:D84.1 {source="Orphanet:169464", source="Orphanet:169464/attributed", source="Orphanet:169464/ntbt"} xref: MESH:C567355 {source="MONDO:equivalentTo"} -xref: OMIM:612300 {source="Orphanet:169464", source="MONDO:equivalentTo", source="ORDO:169464/e"} +xref: OMIM:612300 {source="Orphanet:169464", source="MONDO:equivalentTo", source="Orphanet:169464/e"} xref: Orphanet:169464 {source="OMIM:612300", source="MONDO:equivalentTo"} xref: UMLS:C2676767 {source="OMIM:612300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003664 ! hemolytic anemia @@ -255171,9 +255060,9 @@ synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946] synonym: "TNFRSF11A osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110946 {source="MONDO:equivalentTo"} xref: GARD:0010106 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.2 {source="Orphanet:178389", source="DOID:0110946", source="ORDO:178389/attributed", source="ORDO:178389/ntbt"} +xref: ICD10CM:Q78.2 {source="Orphanet:178389/attributed", source="Orphanet:178389/ntbt", source="Orphanet:178389", source="DOID:0110946"} xref: MESH:C567354 {source="MONDO:equivalentTo"} -xref: OMIM:612301 {source="ORDO:178389/e", source="Orphanet:178389", source="MONDO:equivalentTo", source="DOID:0110946"} +xref: OMIM:612301 {source="Orphanet:178389", source="MONDO:equivalentTo", source="DOID:0110946", source="Orphanet:178389/e"} xref: Orphanet:178389 {source="OMIM:612301", source="MONDO:equivalentTo", source="DOID:0110946"} xref: UMLS:C2676766 {source="NCBI:mim2gene_medline", source="OMIM:612301", source="Orphanet:178389", source="MONDO:equivalentTo"} is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production @@ -255204,7 +255093,7 @@ xref: MESH:C567353 {source="MONDO:equivalentTo"} xref: OMIM:612304 {source="MONDO:equivalentTo", source="GARD:0013041"} xref: Orphanet:745 {source="MONDO:subClassOf", source="OMIM:612304", source="GARD:0013041"} xref: UMLS:C2676759 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612304"} -is_a: MONDO:0019145 {source="MESH:C567353", source="OMIM:612304", source="OMIM:612304/inferred", source="ORDO:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency +is_a: MONDO:0019145 {source="MESH:C567353", source="OMIM:612304", source="OMIM:612304/inferred", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency is_a: MONDO:0100240 {source="MESH:C567353/inferred", source="MONDO:Redundant", source="OMIM:612304", source="OMIM:612304/inferred"} ! inherited thrombophilia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9451 {source="mim2gene_medgen"} ! PROC relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -255278,9 +255167,9 @@ synonym: "SATB2 syndrome" RELATED [GARD:0013206] synonym: "SATB2-associated syndrome" RELATED [GARD:0013206] xref: DOID:0060428 {source="MONDO:equivalentTo"} xref: GARD:0013206 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:251019/attributed", source="ORDO:251019/ntbt", source="DOID:0060428", source="Orphanet:251019"} +xref: ICD10CM:Q93.5 {source="Orphanet:251019/attributed", source="Orphanet:251019/ntbt", source="DOID:0060428", source="Orphanet:251019"} xref: MESH:C567350 {source="MONDO:equivalentTo"} -xref: OMIM:612313 {source="MONDO:equivalentTo", source="DOID:0060428", source="ORDO:251019/e", source="Orphanet:251019"} +xref: OMIM:612313 {source="Orphanet:251019/e", source="MONDO:equivalentTo", source="DOID:0060428", source="Orphanet:251019"} xref: Orphanet:251019 {source="OMIM:612313", source="MONDO:equivalentTo", source="DOID:0060428"} xref: SCTID:719659003 {source="MONDO:equivalentTo"} xref: UMLS:C2676739 {source="OMIM:612313", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251019"} @@ -255329,9 +255218,9 @@ synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or withou synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612319] synonym: "SPG35" EXACT ABBREVIATION [DOID:0110786, MONDO:Lexical, OMIM:612319, Orphanet:171629] xref: DOID:0110786 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110786", source="Orphanet:171629", source="ORDO:171629/attributed", source="ORDO:171629/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:171629/attributed", source="Orphanet:171629/ntbt", source="DOID:0110786", source="Orphanet:171629"} xref: MESH:C567311 {source="MONDO:equivalentTo"} -xref: OMIM:612319 {source="DOID:0110786", source="ORDO:171629/e", source="Orphanet:171629", source="MONDO:equivalentTo"} +xref: OMIM:612319 {source="DOID:0110786", source="Orphanet:171629", source="MONDO:equivalentTo", source="Orphanet:171629/e"} xref: Orphanet:171629 {source="DOID:0110786", source="MONDO:equivalentTo", source="OMIM:612319"} xref: SCTID:764688002 {source="MONDO:equivalentTo"} xref: UMLS:C1823105 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612319"} @@ -255355,11 +255244,11 @@ synonym: "hereditary spastic paraplegia type 38" EXACT [DOID:0110789, MONDORULE: synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612335] synonym: "SPG38" EXACT ABBREVIATION [DOID:0110789, MONDO:Lexical, OMIM:612335, Orphanet:171617] xref: DOID:0110789 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110789", source="Orphanet:171617", source="ORDO:171617/attributed", source="ORDO:171617/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110789", source="Orphanet:171617", source="Orphanet:171617/attributed", source="Orphanet:171617/ntbt"} xref: MESH:C567349 {source="MONDO:equivalentTo"} -xref: OMIM:612335 {source="DOID:0110789", source="Orphanet:171617", source="ORDO:171617/e", source="MONDO:equivalentTo"} +xref: OMIM:612335 {source="DOID:0110789", source="Orphanet:171617", source="MONDO:equivalentTo", source="Orphanet:171617/e"} xref: Orphanet:171617 {source="DOID:0110789", source="OMIM:612335", source="MONDO:equivalentTo"} -xref: UMLS:C2676732 {source="Orphanet:171617", source="ORDO:171617/e", source="OMIM:612335", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C2676732 {source="Orphanet:171617", source="OMIM:612335", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171617/e"} is_a: MONDO:0015087 {source="Orphanet:171617"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110789", source="MESH:C567349", source="MONDO:Redundant", source="OMIM:612335", source="Orphanet:171617/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double @@ -255376,16 +255265,16 @@ synonym: "protein S acquired deficiency" RELATED [Orphanet:26349] synonym: "THPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612336] synonym: "thrombophilia 5 due to protein S deficiency, autosomal dominant" EXACT [OMIM:612336, OMIM:genemap2] synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336] -xref: ICD10CM:D68.8 {source="Orphanet:26349", source="ORDO:26349/ntbt"} -xref: MedDRA:10068370 {source="Orphanet:26349", source="ORDO:26349/e"} +xref: ICD10CM:D68.8 {source="Orphanet:26349", source="Orphanet:26349/ntbt"} +xref: MedDRA:10068370 {source="Orphanet:26349", source="Orphanet:26349/e"} xref: MESH:C567077 {source="MONDO:equivalentTo"} xref: OMIM:612336 {source="MONDO:equivalentTo"} xref: Orphanet:26349 {source="MONDO:equivalentTo", source="OMIM:612336"} xref: Orphanet:743 {source="MONDO:subClassOf", source="OMIM:612336"} -xref: UMLS:C2363755 {source="Orphanet:26349", source="MONDO:notFoundInDiseaseSubset", source="ORDO:26349/e"} +xref: UMLS:C2363755 {source="Orphanet:26349", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:26349/e"} xref: UMLS:C2676728 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3278211 {source="MONDO:equivalentTo", source="OMIM:612336"} -is_a: MONDO:0019144 {source="MONDO:Redundant", source="ORDO:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency +is_a: MONDO:0019144 {source="MONDO:Redundant", source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency is_a: MONDO:0100240 {source="MESH:C567077/inferred", source="MONDO:Redundant", source="OMIM:612336", source="OMIM:612336/inferred"} ! inherited thrombophilia intersection_of: MONDO:0019144 ! hereditary thrombophilia due to congenital protein S deficiency intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -255452,7 +255341,7 @@ xref: OMIM:612347 {source="MONDO:equivalentTo"} xref: Orphanet:768 {source="MONDO:subClassOf", source="OMIM:612347"} xref: Orphanet:90647 {source="MONDO:subClassOf", source="OMIM:612347"} xref: UMLS:C2676723 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612347"} -is_a: MONDO:0002441 {source="MONDO:Redundant", source="OMIM:612347", source="ORDO:90647/btnt"} ! Jervell and Lange-Nielsen syndrome +is_a: MONDO:0002441 {source="MONDO:Redundant", source="OMIM:612347", source="Orphanet:90647/btnt"} ! Jervell and Lange-Nielsen syndrome intersection_of: MONDO:0002441 ! Jervell and Lange-Nielsen syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6240 ! KCNE1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6240 {source="mim2gene_medgen"} ! KCNE1 @@ -255486,9 +255375,9 @@ synonym: "EDSSPD3" RELATED ABBREVIATION [OMIM:612350] synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [OMIM:612350] synonym: "SCD-EDS" RELATED [OMIM:612350] synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:612350] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:157965/attributed", source="ORDO:157965/ntbt", source="Orphanet:157965"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:157965", source="Orphanet:157965/attributed", source="Orphanet:157965/ntbt"} xref: MESH:C567340 {source="MONDO:equivalentTo"} -xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="ORDO:157965/e"} +xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="Orphanet:157965/e"} xref: Orphanet:157965 {source="MONDO:equivalentTo", source="OMIM:612350"} xref: UMLS:C2676510 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:157965", source="OMIM:612350"} is_a: MONDO:0007526 {source="https://orcid.org/0000-0001-5493-2602"} ! Ehlers-Danlos syndrome, spondylodysplastic type @@ -255510,7 +255399,7 @@ xref: OMIM:612353 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="MONDO:subClassOf", source="OMIM:612353"} xref: UMLS:C2676508 {source="OMIM:612353", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:612353", source="indirect"} ! porokeratosis -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis property_value: confidence "1.1527777777777777" xsd:double [Term] @@ -255617,7 +255506,7 @@ xref: OMIM:612370 {source="DOID:0090084", source="GARD:0010773", source="MONDO:e xref: UMLS:C2675302 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3552553 {source="MONDO:equivalentTo", source="OMIM:612370"} is_a: MONDO:0018555 {source="DOID:0090084", source="MONDO:0012880/inferred", source="MONDO:Redundant", source="OMIM:612370", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="MESH:C567220", source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="MESH:C567220", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20626 ! CHD7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20626 {source="mim2gene_medgen"} ! CHD7 @@ -255683,17 +255572,17 @@ synonym: "promyelocytic leukemia" EXACT [NCIT:C3182] xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo"} xref: EFO:0000224 {source="MONDO:equivalentTo"} xref: GARD:0000538 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C92.4 {source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} +xref: ICD10CM:C92.4 {source="Orphanet:520/e", source="DOID:0060318", source="Orphanet:520"} xref: ICD10CM:C92.40 {source="DOID:0060318"} xref: ICDO:9866/3 {source="NCIT:C3182"} -xref: MedDRA:10001019 {source="ORDO:520/e", source="Orphanet:520"} -xref: MESH:D015473 {source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} +xref: MedDRA:10001019 {source="Orphanet:520/e", source="Orphanet:520"} +xref: MESH:D015473 {source="Orphanet:520/e", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"} xref: NCIT:C3182 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318"} -xref: OMIM:612376 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} +xref: OMIM:612376 {source="Orphanet:520/e", source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"} xref: Orphanet:520 {source="OMIM:612376", source="MONDO:equivalentTo", source="DOID:0060318"} xref: SCTID:110004001 {source="MONDO:equivalentTo", source="DOID:0060318"} xref: SCTID:28950004 {source="EFO:0000224", source="DOID:0060318"} -xref: UMLS:C0023487 {source="NCIT:C3182", source="OMIM:612376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060318", source="ORDO:520/e", source="Orphanet:520"} +xref: UMLS:C0023487 {source="NCIT:C3182", source="OMIM:612376", source="Orphanet:520/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"} is_a: MONDO:0018874 {source="NCIT:C3182", source="Orphanet:520"} ! acute myeloid leukemia relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0011118 {source="DOID:0060318", source="EFO:0000224"} ! bilineal acute myeloid leukemia @@ -255730,8 +255619,8 @@ synonym: "congenital disorder of glycosylation, type Iq" RELATED [MONDO:Lexical, synonym: "SRD5A3-CDG (CDG-Iq)" RELATED [GARD:0012397] xref: DOID:0080568 {source="MONDO:equivalentTo"} xref: GARD:0012397 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:324737/attributed", source="ORDO:324737/ntbt", source="Orphanet:324737"} -xref: OMIM:612379 {source="MONDO:equivalentTo", source="ORDO:324737/e", source="Orphanet:324737"} +xref: ICD10CM:E77.8 {source="Orphanet:324737", source="Orphanet:324737/attributed", source="Orphanet:324737/ntbt"} +xref: OMIM:612379 {source="MONDO:equivalentTo", source="Orphanet:324737", source="Orphanet:324737/e"} xref: Orphanet:139477 {source="OMIM:612379"} xref: Orphanet:324737 {source="OMIM:612379", source="MONDO:equivalentTo"} xref: SCTID:733601006 {source="MONDO:equivalentTo"} @@ -255825,7 +255714,7 @@ xref: MESH:C567325 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: OMIM:612389 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="MONDO:subClassOf", source="DOID:0060268", source="OMIM:612389"} xref: UMLS:C2676466 {source="DOID:0060268", source="NCBI:mim2gene_medline", source="OMIM:612389", source="MONDO:equivalentTo"} -is_a: MONDO:0016759 {source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060268", source="MONDO:Redundant", source="OMIM:612389", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28422 ! TSEN2 @@ -255845,7 +255734,7 @@ xref: MESH:C567324 {source="MONDO:equivalentTo", source="DOID:0060269"} xref: OMIM:612390 {source="MONDO:equivalentTo", source="DOID:0060269"} xref: Orphanet:2524 {source="MONDO:subClassOf", source="DOID:0060269", source="OMIM:612390"} xref: UMLS:C2676465 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060269", source="OMIM:612390"} -is_a: MONDO:0016759 {source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060269", source="MONDO:Redundant", source="OMIM:612390", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15506 ! TSEN34 @@ -255864,7 +255753,7 @@ synonym: "connective tissue disorder due to lysyl hydroxylase-3 deficiency" EXAC synonym: "LH3 deficiency" RELATED [OMIM:612394] synonym: "lysyl Hydroxylase 3 deficiency" RELATED [OMIM:612394] xref: MESH:C567320 {source="MONDO:equivalentTo"} -xref: OMIM:612394 {source="MONDO:equivalentTo", source="Orphanet:300284", source="ORDO:300284/e"} +xref: OMIM:612394 {source="Orphanet:300284/e", source="MONDO:equivalentTo", source="Orphanet:300284"} xref: Orphanet:300284 {source="MONDO:equivalentTo", source="OMIM:612394"} xref: SCTID:763318007 {source="MONDO:equivalentTo"} xref: UMLS:C2676285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:300284", source="OMIM:612394"} @@ -255921,9 +255810,9 @@ synonym: "DYT17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612406] synonym: "primary dystonia, DYT17 type" RELATED [Orphanet:370103] synonym: "torsion dystonia type 17" EXACT [DOID:0090042, MONDORULE:2] xref: DOID:0090042 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="DOID:0090042", source="ORDO:370103/attributed", source="ORDO:370103/ntbt", source="Orphanet:370103"} +xref: ICD10CM:G24.1 {source="DOID:0090042", source="Orphanet:370103/attributed", source="Orphanet:370103/ntbt", source="Orphanet:370103"} xref: MESH:C567319 {source="MONDO:equivalentTo"} -xref: OMIM:612406 {source="DOID:0090042", source="MONDO:equivalentTo", source="ORDO:370103/e", source="Orphanet:370103"} +xref: OMIM:612406 {source="Orphanet:370103/e", source="DOID:0090042", source="MONDO:equivalentTo", source="Orphanet:370103"} xref: Orphanet:370103 {source="DOID:0090042", source="MONDO:equivalentTo", source="OMIM:612406"} xref: UMLS:C2676281 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612406"} is_a: MONDO:0015990 {source="Orphanet:370103"} ! focal, segmental or multifocal dystonia @@ -255967,11 +255856,11 @@ synonym: "Rosenthal syndrome" EXACT [OMIM:612416, Orphanet:329] synonym: "Rosenthal's disease" EXACT [DOID:2229] xref: DOID:2229 {source="MONDO:equivalentTo"} xref: GARD:0009670 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.1 {source="ORDO:329/e", source="ORDO:329/specific", source="Orphanet:329", source="DOID:2229"} +xref: ICD10CM:D68.1 {source="Orphanet:329", source="Orphanet:329/specific", source="DOID:2229", source="Orphanet:329/e"} xref: ICD9:286.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:2229"} xref: MESH:D005173 {source="MONDO:equivalentTo", source="DOID:2229"} xref: NCIT:C84705 {source="MONDO:equivalentTo", source="DOID:2229"} -xref: OMIM:612416 {source="ORDO:329/e", source="MONDO:equivalentTo", source="Orphanet:329", source="DOID:2229"} +xref: OMIM:612416 {source="MONDO:equivalentTo", source="Orphanet:329", source="DOID:2229", source="Orphanet:329/e"} xref: Orphanet:329 {source="MONDO:equivalentTo", source="OMIM:612416"} xref: SCTID:49762007 {source="MONDO:equivalentTo", source="DOID:2229"} xref: UMLS:C0015523 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84705", source="Orphanet:329", source="OMIM:612416", source="DOID:2229"} @@ -256029,7 +255918,7 @@ xref: OMIM:612422 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="MONDO:subClassOf", source="OMIM:612422"} xref: UMLS:C2676271 {source="NCBI:mim2gene_medline", source="OMIM:612422", source="MONDO:equivalentTo"} is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:612422", source="indirect"} ! familial restrictive cardiomyopathy -is_a: MONDO:0019150 {source="MONDO:Redundant", source="ORDO:75249/btnt"} ! familial isolated restrictive cardiomyopathy +is_a: MONDO:0019150 {source="MONDO:Redundant", source="Orphanet:75249/btnt"} ! familial isolated restrictive cardiomyopathy intersection_of: MONDO:0019150 ! familial isolated restrictive cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11949 ! TNNT2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11949 {source="mim2gene_medgen"} ! TNNT2 @@ -256049,10 +255938,10 @@ synonym: "PKK deficiency" RELATED [OMIM:612423] synonym: "prekallikrein deficiency" RELATED [OMIM:612423] synonym: "prekallikrein deficiency, congenital" RELATED [GARD:0004477] xref: GARD:0004477 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.8 {source="ORDO:749/attributed", source="ORDO:749/ntbt", source="Orphanet:749"} +xref: ICD10CM:D68.8 {source="Orphanet:749", source="Orphanet:749/attributed", source="Orphanet:749/ntbt"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562725 {source="MONDO:equivalentTo"} -xref: OMIM:612423 {source="ORDO:749/e", source="MONDO:equivalentTo", source="Orphanet:749"} +xref: OMIM:612423 {source="MONDO:equivalentTo", source="Orphanet:749", source="Orphanet:749/e"} xref: Orphanet:749 {source="OMIM:612423", source="MONDO:equivalentTo"} xref: UMLS:C0272339 {source="OMIM:612423", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C99022", source="Orphanet:749"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease @@ -256071,8 +255960,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 27" NARROW [DOID:0110556] synonym: "autosomal dominant nonsyndromic deafness 27" NARROW [OMIM:612431] synonym: "autosomal dominant nonsyndromic deafness type 27" NARROW [DOID:0110556, MONDORULE:2] -synonym: "deafness, autosomal dominant 27" NARROW [OMIM:612431, OMIM:genemap2] -synonym: "deafness, autosomal dominant 27" NARROW [MONDO:Lexical, OMIM:612431] +synonym: "deafness, autosomal dominant 27" NARROW [MONDO:Lexical, OMIM:612431, OMIM:genemap2] synonym: "DFNA27" NARROW ABBREVIATION [DOID:0110556, MONDO:Lexical, OMIM:612431] xref: DOID:0110556 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110556"} @@ -256090,8 +255978,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 45" NARROW [DOID:0110502] synonym: "autosomal recessive nonsyndromic deafness 45" NARROW [OMIM:612433] synonym: "autosomal recessive nonsyndromic deafness type 45" NARROW [DOID:0110502, MONDORULE:2] -synonym: "deafness, autosomal recessive 45" NARROW [OMIM:612433, OMIM:genemap2] -synonym: "deafness, autosomal recessive 45" NARROW [MONDO:Lexical, OMIM:612433] +synonym: "deafness, autosomal recessive 45" NARROW [MONDO:Lexical, OMIM:612433, OMIM:genemap2] synonym: "DFNB45" NARROW ABBREVIATION [DOID:0110502, MONDO:Lexical, OMIM:612433] xref: DOID:0110502 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110502"} @@ -256141,9 +256028,9 @@ synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1, OMIM:6124 synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [OMIM:612438] xref: DOID:0060798 {source="MONDO:equivalentTo"} xref: GARD:0010917 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="ORDO:139441/attributed", source="ORDO:139441/ntbt", source="DOID:0060798", source="Orphanet:139441"} +xref: ICD10CM:E75.2 {source="DOID:0060798", source="Orphanet:139441/attributed", source="Orphanet:139441/ntbt", source="Orphanet:139441"} xref: MESH:C567314 {source="MONDO:equivalentTo"} -xref: OMIM:612438 {source="DOID:0060798", source="MONDO:equivalentTo", source="ORDO:139441/e", source="Orphanet:139441"} +xref: OMIM:612438 {source="Orphanet:139441/e", source="DOID:0060798", source="MONDO:equivalentTo", source="Orphanet:139441"} xref: Orphanet:139441 {source="DOID:0060798", source="MONDO:equivalentTo", source="OMIM:612438"} xref: UMLS:C2676244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612438"} is_a: MONDO:0019046 {source="DOID:0060798", source="DOID:0060798/inferred", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy @@ -256179,7 +256066,7 @@ def: "This syndrome associates progressive visual loss with scoliosis or kyphosc subset: ordo_malformation_syndrome {source="Orphanet:171844"} synonym: "scoliosis, arachnodactyly, and blindness" RELATED [OMIM:612445] xref: MESH:C567309 {source="MONDO:equivalentTo"} -xref: OMIM:612445 {source="MONDO:equivalentTo", source="Orphanet:171844", source="ORDO:171844/e"} +xref: OMIM:612445 {source="Orphanet:171844/e", source="MONDO:equivalentTo", source="Orphanet:171844"} xref: Orphanet:171844 {source="OMIM:612445", source="MONDO:equivalentTo"} xref: SCTID:717920004 {source="MONDO:equivalentTo"} xref: UMLS:C2676234 {source="OMIM:612445", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171844"} @@ -256206,7 +256093,7 @@ xref: Orphanet:169150 {source="MONDO:subClassOf", source="DOID:0060299", source= xref: UMLS:C2676232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612446"} xref: UMLS:C2676233 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612446"} is_a: MONDO:0000015 {source="DC-OMIM:612446", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency +is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1339 ! C6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1339 {source="mim2gene_medgen"} ! C6 @@ -256247,14 +256134,14 @@ synonym: "pseudohypoparathyroidism Ic" EXACT [OMIM:612462, OMIM:genemap2] synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462] synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462] xref: GARD:0010681 {source="MONDO:equivalentTo"} -xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="ORDO:79444/attributed", source="ORDO:79444/ntbt", source="Orphanet:79444"} -xref: MESH:C548076 {source="MONDO:equivalentTo", source="ORDO:79444/e", source="Orphanet:79444"} -xref: OMIM:612462 {source="MONDO:equivalentTo", source="ORDO:79444/e", source="Orphanet:79444"} +xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="Orphanet:79444/attributed", source="Orphanet:79444/ntbt", source="Orphanet:79444"} +xref: MESH:C548076 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} +xref: OMIM:612462 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} xref: Orphanet:665 {source="OMIM:612462"} xref: Orphanet:79444 {source="OMIM:612462", source="MONDO:equivalentTo"} xref: SCTID:717792007 {source="MONDO:equivalentTo"} xref: UMLS:C2675910 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2932716 {source="OMIM:612462", source="MONDO:equivalentTo", source="ORDO:79444/e", source="Orphanet:79444"} +xref: UMLS:C2932716 {source="OMIM:612462", source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity @@ -256285,17 +256172,17 @@ synonym: "Pseudopseudo-hypoparathyroidism" RELATED [GARD:0007860] synonym: "pseudopseudohypoparathyroidism" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612463] xref: DOID:4183 {source="MONDO:equivalentTo"} xref: GARD:0007860 {source="MONDO:equivalentTo"} -xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="ORDO:79445/attributed", source="ORDO:79445/ntbt", source="Orphanet:79445"} +xref: ICD10CM:E20.1 {source="MONDO:subClassOf", source="Orphanet:79445/attributed", source="Orphanet:79445/ntbt", source="Orphanet:79445"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D011556 {source="MONDO:equivalentTo", source="DOID:4183", source="ORDO:79445/e", source="Orphanet:79445"} +xref: MESH:D011556 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"} xref: NCIT:C129722 {source="MONDO:equivalentTo"} -xref: OMIM:612463 {source="MONDO:equivalentTo", source="DOID:4183", source="ORDO:79445/e", source="Orphanet:79445"} +xref: OMIM:612463 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"} xref: Orphanet:665 {source="OMIM:612463", source="MONDO:equivalentObsolete"} xref: Orphanet:79445 {source="OMIM:612463", source="MONDO:equivalentTo"} xref: SCTID:190867002 {source="DOID:4183"} xref: SCTID:237659007 {source="MONDO:equivalentTo", source="DOID:4183"} xref: SCTID:8084001 {source="DOID:4183"} -xref: UMLS:C0033835 {source="OMIM:612463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129722", source="DOID:4183", source="ORDO:79445/e", source="Orphanet:79445"} +xref: UMLS:C0033835 {source="OMIM:612463", source="Orphanet:79445/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129722", source="DOID:4183", source="Orphanet:79445"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity @@ -256323,7 +256210,7 @@ xref: NCIT:C122804 {source="MONDO:equivalentTo"} xref: OMIM:612469 {source="MONDO:equivalentTo"} xref: Orphanet:893 {source="MONDO:subClassOf", source="OMIM:612469"} xref: UMLS:C2675904 {source="NCIT:C122804", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612469"} -is_a: MONDO:0008681 {source="MESH:C567292", source="ORDO:893/btnt"} ! WAGR syndrome +is_a: MONDO:0008681 {source="MESH:C567292", source="Orphanet:893/btnt"} ! WAGR syndrome is_a: MONDO:0015356 {source="MESH:C567292/inferred", source="MONDO:Redundant", source="NCIT:C122804", source="indirect"} ! hereditary neoplastic syndrome [Term] @@ -256340,9 +256227,9 @@ synonym: "Del(1)(q21)" EXACT [Orphanet:250989] synonym: "monosomy 1q21.1" EXACT [DOID:0060411, Orphanet:250989] xref: DOID:0060411 {source="MONDO:equivalentTo"} xref: GARD:0010813 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="DOID:0060411", source="ORDO:250989/attributed", source="ORDO:250989/ntbt", source="Orphanet:250989"} +xref: ICD10CM:Q93.5 {source="DOID:0060411", source="Orphanet:250989/attributed", source="Orphanet:250989/ntbt", source="Orphanet:250989"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:612474 {source="DOID:0060411", source="MONDO:equivalentTo", source="Orphanet:250989", source="ORDO:250989/e"} +xref: OMIM:612474 {source="DOID:0060411", source="Orphanet:250989/e", source="MONDO:equivalentTo", source="Orphanet:250989"} xref: Orphanet:250989 {source="OMIM:612474", source="DOID:0060411", source="MONDO:equivalentTo"} xref: SCTID:699305004 {source="MONDO:equivalentTo"} xref: UMLS:C2675897 {source="OMIM:612474", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:250989"} @@ -256368,7 +256255,7 @@ synonym: "trisomy 1q21.1" EXACT [DOID:0060435, Orphanet:250994] xref: DOID:0060435 {source="MONDO:equivalentTo"} xref: GARD:0010591 {source="MONDO:equivalentTo"} xref: MESH:C567290 {source="MONDO:equivalentTo"} -xref: OMIM:612475 {source="DOID:0060435", source="MONDO:equivalentTo", source="Orphanet:250994", source="ORDO:250994/e"} +xref: OMIM:612475 {source="DOID:0060435", source="MONDO:equivalentTo", source="Orphanet:250994", source="Orphanet:250994/e"} xref: Orphanet:250994 {source="OMIM:612475", source="DOID:0060435", source="MONDO:equivalentTo"} xref: UMLS:C2675891 {source="OMIM:612475", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:250994"} is_a: MONDO:0000762 {source="DC-OMIM:612475", source="DOID:0060435"} ! syndrome caused by partial chromosomal duplication @@ -256394,9 +256281,9 @@ synonym: "monosomy 2p15-p16.1" EXACT [Orphanet:261349] synonym: "monosomy 2p15p16.1" EXACT [Orphanet:261349] xref: DOID:0060415 {source="MONDO:equivalentTo"} xref: GARD:0013391 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="DOID:0060415", source="Orphanet:261349", source="ORDO:261349/attributed", source="ORDO:261349/ntbt"} +xref: ICD10CM:Q93.5 {source="DOID:0060415", source="Orphanet:261349/attributed", source="Orphanet:261349/ntbt", source="Orphanet:261349"} xref: MESH:C567289 {source="MONDO:equivalentTo"} -xref: OMIM:612513 {source="MONDO:equivalentTo", source="DOID:0060415", source="Orphanet:261349", source="ORDO:261349/e"} +xref: OMIM:612513 {source="Orphanet:261349/e", source="MONDO:equivalentTo", source="DOID:0060415", source="Orphanet:261349"} xref: Orphanet:261349 {source="MONDO:equivalentTo", source="OMIM:612513", source="DOID:0060415"} xref: SCTID:719651000 {source="MONDO:equivalentTo"} xref: UMLS:C2675875 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612513", source="Orphanet:261349"} @@ -256532,7 +256419,7 @@ xref: OMIM:612526 {source="MONDO:equivalentTo", source="DOID:0111137"} xref: Orphanet:528 {source="MONDO:subClassOf", source="OMIM:612526"} xref: UMLS:C2675861 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612526"} is_a: MONDO:0006536 {source="DC-OMIM:612526", source="DOID:0111137", source="MONDO:Redundant", source="OMIM:612526"} ! congenital generalized lipodystrophy -is_a: MONDO:0018883 {source="ORDO:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy +is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1527 ! CAV1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1527 {source="mim2gene_medgen"} ! CAV1 @@ -256596,7 +256483,7 @@ xref: OMIM:612529 {source="DOID:0110060", source="MONDO:equivalentTo"} xref: Orphanet:100033 {source="MONDO:subClassOf", source="OMIM:612529"} xref: UMLS:C2675858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612529"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110060", source="MESH:C567279", source="MONDO:Redundant", source="OMIM:612529", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7167 ! MMP20 @@ -256622,8 +256509,8 @@ synonym: "monosomy 1q41-q42" EXACT [Orphanet:250999] synonym: "monosomy 1q41q42" EXACT [Orphanet:250999] xref: DOID:0060412 {source="MONDO:equivalentTo"} xref: GARD:0003738 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="DOID:0060412", source="ORDO:250999/attributed", source="ORDO:250999/ntbt", source="Orphanet:250999"} -xref: OMIM:612530 {source="MONDO:equivalentTo", source="DOID:0060412", source="ORDO:250999/e", source="Orphanet:250999"} +xref: ICD10CM:Q93.5 {source="Orphanet:250999/attributed", source="Orphanet:250999/ntbt", source="DOID:0060412", source="Orphanet:250999"} +xref: OMIM:612530 {source="Orphanet:250999/e", source="MONDO:equivalentTo", source="DOID:0060412", source="Orphanet:250999"} xref: Orphanet:2162 {source="MONDO:subClassOf", source="OMIM:612530"} xref: Orphanet:250999 {source="OMIM:612530", source="MONDO:equivalentTo", source="DOID:0060412"} xref: SCTID:716515000 {source="MONDO:equivalentTo"} @@ -256654,12 +256541,12 @@ synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:desig synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539] synonym: "SPG42" EXACT ABBREVIATION [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863] xref: DOID:0110794 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:171863/attributed", source="ORDO:171863/ntbt", source="DOID:0110794", source="Orphanet:171863"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:171863/attributed", source="Orphanet:171863/ntbt", source="DOID:0110794", source="Orphanet:171863"} xref: MESH:C567262 {source="MONDO:equivalentTo"} -xref: OMIM:612539 {source="MONDO:equivalentTo", source="ORDO:171863/e", source="DOID:0110794", source="Orphanet:171863"} +xref: OMIM:612539 {source="Orphanet:171863/e", source="MONDO:equivalentTo", source="DOID:0110794", source="Orphanet:171863"} xref: Orphanet:171863 {source="MONDO:equivalentTo", source="OMIM:612539", source="DOID:0110794"} xref: SCTID:763070001 {source="MONDO:equivalentTo"} -xref: UMLS:C2675528 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612539", source="ORDO:171863/e", source="Orphanet:171863"} +xref: UMLS:C2675528 {source="Orphanet:171863/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612539", source="Orphanet:171863"} is_a: MONDO:0015088 {source="MONDO:Redundant", source="Orphanet:171863"} ! autosomal dominant pure spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110794", source="MESH:C567262", source="MONDO:Redundant", source="OMIM:612539", source="Orphanet:171863/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015088 ! autosomal dominant pure spastic paraplegia @@ -256676,9 +256563,9 @@ synonym: "congenital lethal myopathy, Compton-North type" RELATED [Orphanet:2101 synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical, OMIM:612540] synonym: "MYPCN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612540] xref: DOID:0080101 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:210163/attributed", source="ORDO:210163/ntbt", source="Orphanet:210163"} +xref: ICD10CM:G71.2 {source="Orphanet:210163/attributed", source="Orphanet:210163/ntbt", source="Orphanet:210163"} xref: MESH:C567261 {source="MONDO:equivalentTo"} -xref: OMIM:612540 {source="DOID:0080101", source="MONDO:equivalentTo", source="Orphanet:210163", source="ORDO:210163/e"} +xref: OMIM:612540 {source="DOID:0080101", source="Orphanet:210163/e", source="MONDO:equivalentTo", source="Orphanet:210163"} xref: Orphanet:210163 {source="OMIM:612540", source="MONDO:equivalentTo"} xref: UMLS:C2675527 {source="OMIM:612540", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="Orphanet:210163"} ! congenital myopathy @@ -256699,8 +256586,8 @@ synonym: "pulmonary arterial hypertension, leukopenia, and atrial septal defect" synonym: "SCN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612541, Orphanet:331176] synonym: "severe congenital neutropenia type 4" EXACT [Orphanet:331176] synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [Orphanet:331176] -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:331176", source="ORDO:331176/attributed", source="ORDO:331176/ntbt"} -xref: OMIM:612541 {source="Orphanet:331176", source="ORDO:331176/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:331176", source="Orphanet:331176/attributed", source="Orphanet:331176/ntbt"} +xref: OMIM:612541 {source="Orphanet:331176", source="MONDO:equivalentTo", source="Orphanet:331176/e"} xref: Orphanet:178503 {source="OMIM:612541"} xref: Orphanet:331176 {source="OMIM:612541", source="MONDO:equivalentTo"} xref: UMLS:C2675526 {source="Orphanet:331176", source="OMIM:612541", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -256769,7 +256656,7 @@ xref: Orphanet:227535 {source="MONDO:subClassOf", source="OMIM:612555", source=" xref: UMLS:C2675520 {source="OMIM:612555", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2675521 {source="OMIM:612555", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2675522 {source="OMIM:612555", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003582 {source="DC-OMIM:612555", source="MONDO:Redundant", source="OMIM:612555", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome +is_a: MONDO:0003582 {source="DC-OMIM:612555", source="MONDO:Redundant", source="OMIM:612555", source="Orphanet:145/btnt"} ! hereditary breast ovarian cancer syndrome intersection_of: MONDO:0003582 ! hereditary breast ovarian cancer syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1101 ! BRCA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1101 {source="mim2gene_medgen"} ! BRCA2 @@ -256909,7 +256796,7 @@ xref: OMIM:612567 {source="MONDO:equivalentTo", source="DOID:0110909"} xref: Orphanet:238569 {source="MONDO:subClassOf", source="OMIM:612567"} xref: UMLS:C2675508 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612567"} is_a: MONDO:0005265 {source="DOID:0110909", source="MESH:C567251", source="MONDO:Redundant", source="OMIM:612567", source="indirect"} ! inflammatory bowel disease -is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5965 ! IL10RB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5965 {source="mim2gene_medgen"} ! IL10RB @@ -256956,7 +256843,7 @@ xref: MESH:C567245 {source="MONDO:equivalentTo"} xref: OMIM:612576 {source="MONDO:equivalentTo"} xref: Orphanet:3329 {source="MONDO:subClassOf", source="OMIM:612576"} xref: UMLS:C2675492 {source="NCBI:mim2gene_medline", source="OMIM:612576", source="MONDO:equivalentTo"} -is_a: MONDO:0018050 {source="ORDO:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome +is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome property_value: confidence "2.659611992945326" xsd:double [Term] @@ -257048,9 +256935,9 @@ synonym: "distal monosomy 6p" EXACT [DOID:0060422] synonym: "distal monosomy type 6p" EXACT [MONDORULE:4, Orphanet:96125] synonym: "monosomy 6p25" EXACT [Orphanet:96125] xref: DOID:0060422 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:96125", source="DOID:0060422", source="ORDO:96125/attributed", source="ORDO:96125/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96125", source="Orphanet:96125/attributed", source="Orphanet:96125/ntbt", source="DOID:0060422"} xref: MESH:C567239 {source="MONDO:equivalentTo"} -xref: OMIM:612582 {source="ORDO:96125/e", source="Orphanet:96125", source="DOID:0060422", source="MONDO:equivalentTo"} +xref: OMIM:612582 {source="Orphanet:96125", source="DOID:0060422", source="MONDO:equivalentTo", source="Orphanet:96125/e"} xref: Orphanet:96125 {source="DOID:0060422", source="MONDO:equivalentTo", source="OMIM:612582"} xref: SCTID:718688008 {source="MONDO:equivalentTo"} xref: UMLS:C2675486 {source="Orphanet:96125", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612582"} @@ -257308,9 +257195,9 @@ synonym: "Drayer syndrome" EXACT [DOID:0060397, OMIM:612626] synonym: "monosomy 15q26" EXACT [Orphanet:1596] synonym: "telomeric 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] xref: DOID:0060397 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:1596", source="DOID:0060397", source="ORDO:1596/attributed", source="ORDO:1596/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:1596", source="DOID:0060397", source="Orphanet:1596/attributed", source="Orphanet:1596/ntbt"} xref: MESH:C567232 {source="DOID:0060397", source="MONDO:equivalentTo"} -xref: OMIM:612626 {source="Orphanet:1596", source="DOID:0060397", source="ORDO:1596/e", source="MONDO:equivalentTo"} +xref: OMIM:612626 {source="Orphanet:1596", source="DOID:0060397", source="MONDO:equivalentTo", source="Orphanet:1596/e"} xref: Orphanet:1596 {source="DOID:0060397", source="MONDO:equivalentTo", source="OMIM:612626"} xref: SCTID:766050000 {source="MONDO:equivalentTo"} xref: UMLS:C2675463 {source="Orphanet:1596", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612626"} @@ -257362,9 +257249,9 @@ name: hemolytic anemia due to adenylate kinase deficiency def: "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." [Orphanet:86817] subset: ordo_disease {source="Orphanet:86817"} synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631] -xref: ICD10CM:D55.3 {source="ORDO:86817/attributed", source="ORDO:86817/ntbt", source="Orphanet:86817"} +xref: ICD10CM:D55.3 {source="Orphanet:86817/attributed", source="Orphanet:86817/ntbt", source="Orphanet:86817"} xref: MESH:C567228 {source="MONDO:equivalentTo"} -xref: OMIM:612631 {source="MONDO:equivalentTo", source="ORDO:86817/e", source="Orphanet:86817"} +xref: OMIM:612631 {source="Orphanet:86817/e", source="MONDO:equivalentTo", source="Orphanet:86817"} xref: Orphanet:86817 {source="OMIM:612631", source="MONDO:equivalentTo"} xref: SCTID:766982000 {source="MONDO:equivalentTo"} xref: UMLS:C2675459 {source="NCBI:mim2gene_medline", source="OMIM:612631", source="MONDO:equivalentTo", source="Orphanet:86817"} @@ -257492,8 +257379,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 59" NARROW [DOID:0110583] synonym: "autosomal dominant nonsyndromic deafness 59" NARROW [OMIM:612642] synonym: "autosomal dominant nonsyndromic deafness type 59" NARROW [DOID:0110583, MONDORULE:2] -synonym: "deafness, autosomal dominant 59" NARROW [OMIM:612642, OMIM:genemap2] -synonym: "deafness, autosomal dominant 59" NARROW [MONDO:Lexical, OMIM:612642] +synonym: "deafness, autosomal dominant 59" NARROW [MONDO:Lexical, OMIM:612642, OMIM:genemap2] synonym: "DFNA59" NARROW ABBREVIATION [DOID:0110583, MONDO:Lexical, OMIM:612642] xref: DOID:0110583 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110583"} @@ -257636,9 +257522,9 @@ synonym: "ECO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612651] synonym: "ECO syndrome" EXACT [DOID:0060641, Orphanet:199332] synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651] xref: DOID:0060641 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:199332", source="DOID:0060641", source="ORDO:199332/attributed", source="ORDO:199332/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:199332", source="Orphanet:199332/attributed", source="Orphanet:199332/ntbt", source="DOID:0060641"} xref: MESH:C567210 {source="MONDO:equivalentTo"} -xref: OMIM:612651 {source="Orphanet:199332", source="ORDO:199332/e", source="DOID:0060641", source="MONDO:equivalentTo"} +xref: OMIM:612651 {source="Orphanet:199332", source="DOID:0060641", source="MONDO:equivalentTo", source="Orphanet:199332/e"} xref: Orphanet:199332 {source="OMIM:612651", source="DOID:0060641", source="MONDO:equivalentTo"} xref: SCTID:723309006 {source="MONDO:equivalentTo"} xref: UMLS:C2675227 {source="OMIM:612651", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -257682,9 +257568,9 @@ synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656] synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern] synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050994 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="Orphanet:209967", source="ORDO:209967/attributed", source="ORDO:209967/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:209967", source="Orphanet:209967/attributed", source="Orphanet:209967/ntbt"} xref: MESH:C567207 {source="MONDO:equivalentTo"} -xref: OMIM:612656 {source="Orphanet:209967", source="ORDO:209967/e", source="DOID:0050994", source="MONDO:equivalentTo"} +xref: OMIM:612656 {source="Orphanet:209967", source="DOID:0050994", source="MONDO:equivalentTo", source="Orphanet:209967/e"} xref: Orphanet:209967 {source="MONDO:equivalentTo", source="OMIM:612656"} xref: SCTID:718753002 {source="MONDO:equivalentTo"} xref: UMLS:C2675211 {source="Orphanet:209967", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612656"} @@ -257725,7 +257611,7 @@ synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndr synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [DOID:0080181] xref: DOID:0080181 {source="MONDO:equivalentTo"} xref: MESH:C567203 {source="MONDO:equivalentTo"} -xref: OMIM:612674 {source="Orphanet:171848", source="ORDO:171848/e", source="MONDO:equivalentTo", source="DOID:0080181"} +xref: OMIM:612674 {source="Orphanet:171848", source="MONDO:equivalentTo", source="Orphanet:171848/e", source="DOID:0080181"} xref: Orphanet:171848 {source="OMIM:612674", source="MONDO:equivalentTo", source="DOID:0080181"} xref: SCTID:723452007 {source="MONDO:equivalentTo"} xref: UMLS:C2675204 {source="OMIM:612674", source="Orphanet:171848", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -257769,9 +257655,9 @@ subset: ordo_clinical_subtype {source="Orphanet:208441"} synonym: "BTOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612691] synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OMIM:612691] xref: GARD:0010785 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:208441/attributed", source="ORDO:208441/ntbt", source="Orphanet:208441"} +xref: ICD10CM:Q04.3 {source="Orphanet:208441", source="Orphanet:208441/attributed", source="Orphanet:208441/ntbt"} xref: MESH:C567201 {source="MONDO:equivalentTo"} -xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="ORDO:208441/e"} +xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="Orphanet:208441/e"} xref: Orphanet:208441 {source="MONDO:equivalentTo", source="OMIM:612691"} xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:612691"} xref: UMLS:C2675191 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612691"} @@ -257793,7 +257679,7 @@ xref: OMIM:612692 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:612692"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:612692"} xref: UMLS:C3150207 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612692"} -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:612692", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1699 ! CD79B @@ -257819,7 +257705,7 @@ xref: OMIM:612702 {source="DOID:0090086", source="MONDO:equivalentTo", source="G xref: UMLS:C2675188 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3552574 {source="MONDO:equivalentTo", source="OMIM:612702"} is_a: MONDO:0018555 {source="DOID:0090086", source="MONDO:0012988/inferred", source="MONDO:Redundant", source="OMIM:612702", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="MESH:C567199", source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="MESH:C567199", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3686 ! FGF8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3686 {source="mim2gene_medgen"} ! FGF8 @@ -257896,7 +257782,7 @@ subset: ordo_disease {source="Orphanet:199337"} synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [OMIM:612714] synonym: "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" EXACT [] xref: MESH:C567195 {source="MONDO:equivalentTo"} -xref: OMIM:612714 {source="MONDO:equivalentTo", source="ORDO:199337/e", source="Orphanet:199337"} +xref: OMIM:612714 {source="MONDO:equivalentTo", source="Orphanet:199337", source="Orphanet:199337/e"} xref: Orphanet:199337 {source="MONDO:equivalentTo", source="OMIM:612714"} xref: SCTID:722207000 {source="MONDO:equivalentTo"} xref: UMLS:C2675184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:199337", source="OMIM:612714"} @@ -257921,7 +257807,7 @@ xref: MESH:C567194 {source="MONDO:equivalentTo"} xref: OMIM:612715 {source="MONDO:equivalentTo"} xref: Orphanet:241 {source="MONDO:subClassOf", source="OMIM:612715"} xref: UMLS:C2675183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612715"} -is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:612715", source="ORDO:241/btnt"} ! dyschromatosis universalis hereditaria +is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:612715", source="Orphanet:241/btnt"} ! dyschromatosis universalis hereditaria property_value: confidence "0.588235294117647" xsd:double [Term] @@ -257939,10 +257825,10 @@ synonym: "SPR deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594] synonym: "SRD" EXACT ABBREVIATION [DOID:0111168] xref: DOID:0111168 {source="MONDO:equivalentTo"} xref: GARD:0010365 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.1 {source="Orphanet:70594", source="ORDO:70594/attributed", source="ORDO:70594/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:70594", source="Orphanet:70594/attributed", source="Orphanet:70594/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562657 {source="MONDO:equivalentTo"} -xref: OMIM:612716 {source="ORDO:70594/e", source="Orphanet:70594", source="MONDO:equivalentTo", source="DOID:0111168"} +xref: OMIM:612716 {source="Orphanet:70594", source="MONDO:equivalentTo", source="Orphanet:70594/e", source="DOID:0111168"} xref: Orphanet:70594 {source="MONDO:equivalentTo", source="DOID:0111168", source="OMIM:612716"} xref: SCTID:45116002 {source="MONDO:equivalentTo", source="DOID:0111168"} xref: UMLS:C0268468 {source="Orphanet:70594", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0111168", source="OMIM:612716"} @@ -257983,10 +257869,10 @@ synonym: "glycine amidinotransferase activity disease" EXACT [MONDO:design_patte synonym: "L-arginine:glycine amidinotransferase deficiency" EXACT [Orphanet:35704] xref: DOID:0050712 {source="MONDO:equivalentTo"} xref: GARD:0010323 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.8 {source="Orphanet:35704", source="ORDO:35704/attributed", source="ORDO:35704/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:35704/attributed", source="Orphanet:35704/ntbt", source="Orphanet:35704"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567192 {source="MONDO:equivalentTo"} -xref: OMIM:612718 {source="ORDO:35704/e", source="Orphanet:35704", source="MONDO:equivalentTo", source="DOID:0050712"} +xref: OMIM:612718 {source="Orphanet:35704", source="MONDO:equivalentTo", source="DOID:0050712", source="Orphanet:35704/e"} xref: Orphanet:35704 {source="MONDO:equivalentTo", source="OMIM:612718"} xref: SCTID:702440000 {source="MONDO:equivalentTo"} xref: UMLS:C2675179 {source="Orphanet:35704", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612718"} @@ -258006,7 +257892,7 @@ synonym: "HARDIKAR syndrome" RELATED [OMIM:612726] synonym: "Hardikar syndrome" EXACT [Orphanet:1415] xref: GARD:0009280 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C535632 {source="MONDO:equivalentTo"} -xref: OMIM:612726 {source="MONDO:equivalentTo", source="Orphanet:1415", source="ORDO:1415/e"} +xref: OMIM:612726 {source="MONDO:equivalentTo", source="Orphanet:1415", source="Orphanet:1415/e"} xref: Orphanet:1415 {source="MONDO:equivalentTo", source="OMIM:612726"} xref: SCTID:720636001 {source="MONDO:equivalentTo"} xref: UMLS:C0795969 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1415", source="OMIM:612726"} @@ -258038,13 +257924,13 @@ synonym: "guanidinoacetate methyltransferase deficiency" EXACT CLINGEN_PREFERRED synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern] xref: DOID:0050799 {source="MONDO:equivalentTo"} xref: GARD:0002578 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="ORDO:382/attributed", source="ORDO:382/ntbt", source="Orphanet:382"} +xref: ICD10CM:E72.8 {source="Orphanet:382", source="Orphanet:382/attributed", source="Orphanet:382/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537622 {source="MONDO:equivalentTo", source="ORDO:382/e", source="Orphanet:382"} -xref: OMIM:612736 {source="DOID:0050799", source="MONDO:equivalentTo", source="ORDO:382/e", source="Orphanet:382"} +xref: MESH:C537622 {source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"} +xref: OMIM:612736 {source="DOID:0050799", source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"} xref: Orphanet:382 {source="MONDO:equivalentTo", source="OMIM:612736"} xref: SCTID:124239003 {source="MONDO:equivalentTo"} -xref: UMLS:C0574080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:382/e", source="Orphanet:382", source="OMIM:612736"} +xref: UMLS:C0574080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:382", source="OMIM:612736", source="Orphanet:382/e"} is_a: MONDO:0000456 {source="DOID:0050799", source="OMIM:612736", source="Orphanet:382"} ! cerebral creatine deficiency syndrome is_a: MONDO:0019058 {source="Orphanet:382", source="indirect"} ! neurometabolic disease intersection_of: MONDO:0000001 ! disease or disorder @@ -258077,10 +257963,10 @@ synonym: "porphyria of Doss" EXACT [Orphanet:100924] synonym: "porphyria, acute hepatic" RELATED [OMIM:612740] synonym: "porphyria, ALAD" RELATED [OMIM:612740] xref: GARD:0004445 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.2 {source="ORDO:100924/attributed", source="ORDO:100924/ntbt", source="Orphanet:100924"} +xref: ICD10CM:E80.2 {source="Orphanet:100924/attributed", source="Orphanet:100924/ntbt", source="Orphanet:100924"} xref: MESH:C562618 {source="MONDO:equivalentTo"} xref: NCIT:C133887 {source="MONDO:equivalentTo"} -xref: OMIM:612740 {source="MONDO:equivalentTo", source="ORDO:100924/e", source="Orphanet:100924"} +xref: OMIM:612740 {source="Orphanet:100924/e", source="MONDO:equivalentTo", source="Orphanet:100924"} xref: Orphanet:100924 {source="OMIM:612740", source="MONDO:equivalentTo"} xref: UMLS:C0268328 {source="OMIM:612740", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2748608 {source="OMIM:612740", source="MONDO:notFoundInDiseaseSubset"} @@ -258125,8 +258011,8 @@ def: "Isolated aglossia and hypoglossia are terms covering the spectrum from par subset: ordo_morphological_anomaly {source="Orphanet:141152"} synonym: "hypoglossia with situs inversus" RELATED [OMIM:612776] synonym: "hypoglossia, isolated" RELATED [OMIM:612776] -xref: ICD10CM:Q38.3 {source="Orphanet:141152", source="ORDO:141152/attributed", source="ORDO:141152/ntbt"} -xref: OMIM:612776 {source="ORDO:141152/e", source="Orphanet:141152", source="MONDO:equivalentTo"} +xref: ICD10CM:Q38.3 {source="Orphanet:141152/attributed", source="Orphanet:141152/ntbt", source="Orphanet:141152"} +xref: OMIM:612776 {source="Orphanet:141152", source="MONDO:equivalentTo", source="Orphanet:141152/e"} xref: Orphanet:141152 {source="MONDO:equivalentTo", source="OMIM:612776"} xref: UMLS:C2748587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612776"} xref: UMLS:C2748588 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612776"} @@ -258163,10 +258049,10 @@ synonym: "SESAMES" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780] xref: DOID:0060484 {source="MONDO:equivalentTo"} xref: GARD:0010514 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C557674 {source="DOID:0060484", source="MONDO:equivalentTo"} -xref: OMIM:612780 {source="DOID:0060484", source="Orphanet:199343", source="ORDO:199343/e", source="MONDO:equivalentTo"} +xref: OMIM:612780 {source="DOID:0060484", source="Orphanet:199343", source="MONDO:equivalentTo", source="Orphanet:199343/e"} xref: Orphanet:199343 {source="DOID:0060484", source="MONDO:equivalentTo", source="OMIM:612780"} xref: SCTID:721207002 {source="MONDO:equivalentTo"} -xref: UMLS:C2748572 {source="DOID:0060484", source="Orphanet:199343", source="ORDO:199343/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612780"} +xref: UMLS:C2748572 {source="DOID:0060484", source="Orphanet:199343", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:199343/e", source="OMIM:612780"} is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:199343"} ! inherited renal tubular disease @@ -258195,9 +258081,9 @@ synonym: "isolated Growth hormone deficiency, type 1B" RELATED [OMIM:612781] synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical, OMIM:612781] xref: DOID:0060874 {source="MONDO:equivalentTo"} xref: GARD:0003919 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:231671", source="DOID:0060874", source="ORDO:231671/attributed", source="ORDO:231671/ntbt"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:231671/attributed", source="Orphanet:231671/ntbt", source="Orphanet:231671", source="DOID:0060874"} xref: MESH:C567564 {source="MONDO:equivalentTo"} -xref: OMIM:612781 {source="ORDO:231671/e", source="Orphanet:231671", source="MONDO:equivalentTo", source="DOID:0060874", source="GARD:0003919"} +xref: OMIM:612781 {source="Orphanet:231671", source="MONDO:equivalentTo", source="DOID:0060874", source="Orphanet:231671/e", source="GARD:0003919"} xref: Orphanet:231671 {source="OMIM:612781", source="MONDO:equivalentTo", source="DOID:0060874"} xref: Orphanet:631 {source="MONDO:subClassOf", source="OMIM:612781"} xref: UMLS:C2748571 {source="OMIM:612781", source="Orphanet:231671", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -258217,9 +258103,9 @@ synonym: "immune dysfunction with T-cell inactivation due to calcium entry defec synonym: "immunodeficiency 9" RELATED [MONDO:Lexical, OMIM:612782] synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782] xref: GARD:0010524 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D81.8 {source="Orphanet:317428", source="ORDO:317428/attributed", source="ORDO:317428/ntbt"} +xref: ICD10CM:D81.8 {source="Orphanet:317428", source="Orphanet:317428/attributed", source="Orphanet:317428/ntbt"} xref: MESH:C557826 {source="MONDO:equivalentTo"} -xref: OMIM:612782 {source="Orphanet:317428", source="ORDO:317428/e", source="MONDO:equivalentTo"} +xref: OMIM:612782 {source="Orphanet:317428", source="MONDO:equivalentTo", source="Orphanet:317428/e"} xref: Orphanet:169090 {source="MONDO:subClassOf", source="OMIM:612782"} xref: Orphanet:317428 {source="OMIM:612782", source="MONDO:equivalentTo"} xref: UMLS:C2748568 {source="OMIM:612782", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -258239,9 +258125,9 @@ synonym: "immunodeficiency 10" RELATED [MONDO:Lexical, OMIM:612783] synonym: "immunodeficiency type 10" EXACT [MONDORULE:2, OMIM:612783] synonym: "STIM1 deficiency" RELATED [OMIM:612783] xref: GARD:0010523 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:D81.8 {source="ORDO:317430/attributed", source="ORDO:317430/ntbt", source="Orphanet:317430"} +xref: ICD10CM:D81.8 {source="Orphanet:317430/attributed", source="Orphanet:317430/ntbt", source="Orphanet:317430"} xref: MESH:C557827 {source="MONDO:equivalentTo"} -xref: OMIM:612783 {source="MONDO:equivalentTo", source="ORDO:317430/e", source="Orphanet:317430"} +xref: OMIM:612783 {source="Orphanet:317430/e", source="MONDO:equivalentTo", source="Orphanet:317430"} xref: Orphanet:169090 {source="MONDO:subClassOf", source="OMIM:612783"} xref: Orphanet:317430 {source="OMIM:612783", source="MONDO:equivalentTo"} xref: UMLS:C2748557 {source="OMIM:612783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -258271,8 +258157,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 71" NARROW [DOID:0110522] synonym: "autosomal recessive nonsyndromic deafness 71" NARROW [OMIM:612789] synonym: "autosomal recessive nonsyndromic deafness type 71" NARROW [DOID:0110522, MONDORULE:2] -synonym: "deafness, autosomal recessive 71" NARROW [MONDO:Lexical, OMIM:612789] -synonym: "deafness, autosomal recessive 71" NARROW [OMIM:612789, OMIM:genemap2] +synonym: "deafness, autosomal recessive 71" NARROW [MONDO:Lexical, OMIM:612789, OMIM:genemap2] synonym: "DFNB71" NARROW ABBREVIATION [DOID:0110522, MONDO:Lexical, OMIM:612789] xref: DOID:0110522 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110522"} @@ -258332,7 +258217,7 @@ synonym: "question mark ears, isolated" EXACT [MONDO:Lexical, OMIM:612798] xref: OMIM:612798 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="MONDO:subClassOf", source="OMIM:612798"} xref: UMLS:C2748545 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612798"} -is_a: MONDO:0000107 {source="ORDO:137888/btnt"} ! auriculocondylar syndrome +is_a: MONDO:0000107 {source="Orphanet:137888/btnt"} ! auriculocondylar syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3176 {source="mim2gene_medgen"} ! EDN1 property_value: confidence "3.066235547717029" xsd:double @@ -258346,9 +258231,9 @@ synonym: "SEMD, aggrecan type" EXACT [OMIM:612813, Orphanet:171866] synonym: "SEMDAG" RELATED ABBREVIATION [OMIM:612813] synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813] xref: GARD:0010513 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:171866/attributed", source="ORDO:171866/ntbt", source="Orphanet:171866"} +xref: ICD10CM:Q77.7 {source="Orphanet:171866/attributed", source="Orphanet:171866/ntbt", source="Orphanet:171866"} xref: MESH:C567558 {source="MONDO:equivalentTo"} -xref: OMIM:612813 {source="MONDO:equivalentTo", source="Orphanet:171866", source="ORDO:171866/e"} +xref: OMIM:612813 {source="Orphanet:171866/e", source="MONDO:equivalentTo", source="Orphanet:171866"} xref: Orphanet:171866 {source="MONDO:equivalentTo", source="OMIM:612813"} xref: SCTID:719165004 {source="MONDO:equivalentTo"} xref: UMLS:C2748544 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612813", source="Orphanet:171866"} @@ -258403,9 +258288,9 @@ synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840] synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical, OMIM:612840] synonym: "leukocyte adhesion deficiency-1 variant" EXACT [Orphanet:99844] xref: DOID:0110912 {source="MONDO:equivalentTo"} -xref: ICD10CM:D84.8 {source="Orphanet:99844", source="ORDO:99844/attributed", source="ORDO:99844/ntbt"} +xref: ICD10CM:D84.8 {source="Orphanet:99844/attributed", source="Orphanet:99844/ntbt", source="Orphanet:99844"} xref: MESH:C567555 {source="MONDO:equivalentTo"} -xref: OMIM:612840 {source="ORDO:99844/e", source="DOID:0110912", source="Orphanet:99844", source="MONDO:equivalentTo"} +xref: OMIM:612840 {source="DOID:0110912", source="Orphanet:99844", source="MONDO:equivalentTo", source="Orphanet:99844/e"} xref: Orphanet:2968 {source="MONDO:subClassOf", source="OMIM:612840"} xref: Orphanet:99844 {source="DOID:0110912", source="OMIM:612840", source="MONDO:equivalentTo"} xref: UMLS:C2748536 {source="NCBI:mim2gene_medline", source="OMIM:612840", source="Orphanet:99844", source="MONDO:equivalentTo"} @@ -258432,7 +258317,7 @@ xref: OMIM:612841 {source="DOID:0110702", source="MONDO:equivalentTo"} xref: Orphanet:444 {source="MONDO:subClassOf", source="OMIM:612841"} xref: UMLS:C2748535 {source="OMIM:612841", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110702", source="MESH:C567554", source="MONDO:Redundant", source="OMIM:612841", source="indirect"} ! hypotrichosis -is_a: MONDO:0018631 {source="ORDO:444/btnt"} ! Marie Unna hereditary hypotrichosis +is_a: MONDO:0018631 {source="Orphanet:444/btnt"} ! Marie Unna hereditary hypotrichosis property_value: confidence "7.333333333333332" xsd:double [Term] @@ -258484,7 +258369,7 @@ synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RE xref: GARD:0010516 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: MESH:C557815 {source="MONDO:equivalentTo"} xref: NCIT:C119056 {source="MONDO:equivalentTo"} -xref: OMIM:612852 {source="ORDO:210115/e", source="MONDO:equivalentTo", source="Orphanet:210115"} +xref: OMIM:612852 {source="MONDO:equivalentTo", source="Orphanet:210115", source="Orphanet:210115/e"} xref: Orphanet:210115 {source="OMIM:612852", source="MONDO:equivalentTo"} xref: UMLS:C2748507 {source="NCIT:C119056", source="OMIM:612852", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:210115"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity @@ -258534,11 +258419,11 @@ synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thro xref: GARD:0013124 {source="MONDO:equivalentTo"} xref: ICD9:415.19 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068739 {source="Orphanet:70591", source="ORDO:70591/e"} -xref: OMIM:612862 {source="Orphanet:70591", source="MONDO:equivalentTo", source="ORDO:70591/e"} +xref: MedDRA:10068739 {source="Orphanet:70591", source="Orphanet:70591/e"} +xref: OMIM:612862 {source="Orphanet:70591", source="MONDO:equivalentTo", source="Orphanet:70591/e"} xref: Orphanet:70591 {source="OMIM:612862", source="MONDO:equivalentTo"} xref: SCTID:233947005 {source="MONDO:equivalentTo"} -xref: UMLS:C2363973 {source="Orphanet:70591", source="MONDO:equivalentTo", source="ORDO:70591/e"} +xref: UMLS:C2363973 {source="Orphanet:70591", source="MONDO:equivalentTo", source="Orphanet:70591/e"} xref: UMLS:C2748504 {source="NCBI:mim2gene_medline", source="OMIM:612862", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005149 {source="Orphanet:70591"} ! pulmonary hypertension relationship: has_modifier MONDO:0021136 {source="MONDO:0019096"} ! rare @@ -258560,9 +258445,9 @@ synonym: "deletion 6q25" RELATED [GARD:0003764] synonym: "monosomy 6q25" EXACT [DOID:0060424, Orphanet:251056] xref: DOID:0060424 {source="MONDO:equivalentTo"} xref: GARD:0003764 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:251056", source="ORDO:251056/attributed", source="ORDO:251056/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:251056/attributed", source="Orphanet:251056/ntbt", source="Orphanet:251056"} xref: NCIT:C36470 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} -xref: OMIM:612863 {source="Orphanet:251056", source="ORDO:251056/e", source="DOID:0060424", source="MONDO:equivalentTo"} +xref: OMIM:612863 {source="Orphanet:251056", source="DOID:0060424", source="MONDO:equivalentTo", source="Orphanet:251056/e"} xref: Orphanet:251056 {source="OMIM:612863", source="DOID:0060424", source="MONDO:equivalentTo"} xref: SCTID:719663005 {source="MONDO:equivalentTo"} xref: UMLS:C3150215 {source="OMIM:612863", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -258585,9 +258470,9 @@ synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical, OMI synonym: "SMCD" EXACT ABBREVIATION [DOID:0060454, MONDO:Lexical, OMIM:612867, Orphanet:98959] synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867] xref: DOID:0060454 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="DOID:0060454", source="ORDO:98959/attributed", source="ORDO:98959/ntbt", source="Orphanet:98959"} +xref: ICD10CM:H18.5 {source="DOID:0060454", source="Orphanet:98959/attributed", source="Orphanet:98959/ntbt", source="Orphanet:98959"} xref: MESH:C567547 {source="DOID:0060454", source="MONDO:equivalentTo"} -xref: OMIM:612867 {source="DOID:0060454", source="MONDO:equivalentTo", source="ORDO:98959/e", source="Orphanet:98959"} +xref: OMIM:612867 {source="Orphanet:98959/e", source="DOID:0060454", source="MONDO:equivalentTo", source="Orphanet:98959"} xref: Orphanet:98959 {source="DOID:0060454", source="MONDO:equivalentTo", source="OMIM:612867"} xref: SCTID:723582004 {source="MONDO:equivalentTo"} xref: UMLS:C2748503 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612867", source="Orphanet:98959"} @@ -258606,9 +258491,9 @@ synonym: "PACD" EXACT ABBREVIATION [DOID:0060452, MONDO:Lexical, OMIM:612868, Or synonym: "posterior amorphous corneal dystrophy" EXACT [OMIM:612868] synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971] xref: DOID:0060452 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:98971", source="DOID:0060452", source="ORDO:98971/attributed", source="ORDO:98971/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98971", source="DOID:0060452", source="Orphanet:98971/attributed", source="Orphanet:98971/ntbt"} xref: MESH:C567546 {source="DOID:0060452", source="MONDO:equivalentTo"} -xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="ORDO:98971/e"} +xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="Orphanet:98971/e"} xref: Orphanet:98971 {source="DOID:0060452", source="MONDO:equivalentTo", source="OMIM:612868"} xref: SCTID:719296002 {source="MONDO:equivalentTo"} xref: UMLS:C2748502 {source="Orphanet:98971", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612868"} @@ -258622,15 +258507,15 @@ def: "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder subset: ordo_disease {source="Orphanet:45"} synonym: "AMP deaminase deficiency" EXACT [Orphanet:45] synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45] -xref: ICD10CM:G71.3 {source="Orphanet:45", source="ORDO:45/attributed", source="ORDO:45/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:45", source="Orphanet:45/attributed", source="Orphanet:45/ntbt"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538234 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:equivalentTo"} -xref: OMIM:612874 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:superClassOf"} -xref: OMIM:615511 {source="Orphanet:45", source="MONDO:superClassOf", source="ORDO:45/btnt"} +xref: MESH:C538234 {source="Orphanet:45", source="MONDO:equivalentTo", source="Orphanet:45/e"} +xref: OMIM:612874 {source="Orphanet:45", source="MONDO:superClassOf", source="Orphanet:45/e"} +xref: OMIM:615511 {source="Orphanet:45", source="Orphanet:45/btnt", source="MONDO:superClassOf"} xref: Orphanet:45 {source="OMIM:612874", source="MONDO:equivalentTo"} xref: SCTID:9105005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268123 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931781 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268123 {source="Orphanet:45", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:45/e"} +xref: UMLS:C2931781 {source="Orphanet:45", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:45/e"} is_a: MONDO:0009637 {source="Orphanet:45"} ! inborn mitochondrial myopathy is_a: MONDO:0019236 {source="Orphanet:45"} ! inborn disorder of purine metabolism @@ -258742,7 +258627,7 @@ xref: MESH:C565102 {source="MONDO:equivalentTo"} xref: OMIM:612908 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="MONDO:subClassOf", source="OMIM:612908"} xref: UMLS:C1852127 {source="OMIM:612908", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018865 {source="MONDO:Redundant", source="ORDO:50942/btnt"} ! striate palmoplantar keratoderma +is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 ! DSP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 {source="mim2gene_medgen"} ! DSP @@ -258771,12 +258656,12 @@ synonym: "orofaciodigital syndrome XI" EXACT [MONDO:Lexical, OMIM:612913] synonym: "orofaciodigital syndrome, Gabrielli type" EXACT [Orphanet:141000] xref: DOID:0060381 {source="MONDO:equivalentTo"} xref: GARD:0004118 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:141000", source="ORDO:141000/attributed", source="ORDO:141000/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:141000/attributed", source="Orphanet:141000/ntbt", source="Orphanet:141000"} xref: MESH:C557821 {source="MONDO:equivalentTo", source="DOID:0060381"} -xref: OMIM:612913 {source="ORDO:141000/e", source="Orphanet:141000", source="MONDO:equivalentTo", source="DOID:0060381"} +xref: OMIM:612913 {source="Orphanet:141000", source="MONDO:equivalentTo", source="Orphanet:141000/e", source="DOID:0060381"} xref: Orphanet:141000 {source="MONDO:equivalentTo", source="OMIM:612913", source="DOID:0060381"} xref: SCTID:718681002 {source="MONDO:equivalentTo"} -xref: UMLS:C2752048 {source="ORDO:141000/e", source="NCBI:mim2gene_medline", source="Orphanet:141000", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612913", source="DOID:0060381"} +xref: UMLS:C2752048 {source="NCBI:mim2gene_medline", source="Orphanet:141000", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612913", source="Orphanet:141000/e", source="DOID:0060381"} is_a: MONDO:0015375 {source="DC-OMIM:612913", source="DOID:0060381", source="MESH:C557821", source="Orphanet:141000", source="linkedlifedata"} ! orofaciodigital syndrome property_value: confidence "15.500000000000007" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 xsd:anyURI {source="GARD:0004118"} @@ -258792,9 +258677,9 @@ synonym: "occipital atretic cephalocele-unusual facies-large feet syndrome" EXAC synonym: "Zechi Ceide syndrome" RELATED [GARD:0010582] synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916] xref: GARD:0010582 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:217017", source="ORDO:217017/attributed", source="ORDO:217017/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:217017", source="Orphanet:217017/attributed", source="Orphanet:217017/ntbt"} xref: MESH:C567865 {source="MONDO:equivalentTo"} -xref: OMIM:612916 {source="Orphanet:217017", source="MONDO:equivalentTo", source="ORDO:217017/e"} +xref: OMIM:612916 {source="Orphanet:217017", source="MONDO:equivalentTo", source="Orphanet:217017/e"} xref: Orphanet:217017 {source="MONDO:equivalentTo", source="OMIM:612916"} xref: UMLS:C2752047 {source="Orphanet:217017", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612916"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217017", source="indirect"} ! syndromic intellectual disability @@ -258830,9 +258715,9 @@ synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi- xref: DOID:0080351 {source="MONDO:equivalentTo"} xref: GARD:0010939 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:10939 {source="DOID:0080351"} -xref: ICD10CM:Q87.3 {source="DOID:0080351", source="ORDO:140944/attributed", source="ORDO:140944/ntbt", source="Orphanet:140944"} +xref: ICD10CM:Q87.3 {source="DOID:0080351", source="Orphanet:140944/attributed", source="Orphanet:140944/ntbt", source="Orphanet:140944"} xref: MESH:C567863 {source="MONDO:equivalentTo"} -xref: OMIM:612918 {source="DOID:0080351", source="MONDO:equivalentTo", source="ORDO:140944/e", source="Orphanet:140944"} +xref: OMIM:612918 {source="DOID:0080351", source="Orphanet:140944/e", source="MONDO:equivalentTo", source="Orphanet:140944"} xref: Orphanet:140944 {source="OMIM:612918", source="DOID:0080351", source="MONDO:equivalentTo"} xref: SCTID:719475006 {source="MONDO:equivalentTo"} xref: UMLS:C2752042 {source="OMIM:612918", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -258884,8 +258769,8 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MO synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612922] synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922] -xref: ICD10CM:D58.8 {source="Orphanet:93576", source="ORDO:93576/attributed", source="ORDO:93576/ntbt"} -xref: OMIM:612922 {source="ORDO:93576/e", source="MONDO:equivalentTo", source="Orphanet:93576"} +xref: ICD10CM:D58.8 {source="Orphanet:93576", source="Orphanet:93576/attributed", source="Orphanet:93576/ntbt"} +xref: OMIM:612922 {source="MONDO:equivalentTo", source="Orphanet:93576", source="Orphanet:93576/e"} xref: Orphanet:2134 {source="MONDO:subClassOf", source="OMIM:612922"} xref: Orphanet:93576 {source="MONDO:equivalentTo", source="OMIM:612922"} xref: UMLS:C2752040 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612922"} @@ -258909,8 +258794,8 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MO synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612923] synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580] synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923] -xref: ICD10CM:D58.8 {source="ORDO:93580/attributed", source="ORDO:93580/ntbt", source="Orphanet:93580"} -xref: OMIM:612923 {source="MONDO:equivalentTo", source="ORDO:93580/e", source="Orphanet:93580"} +xref: ICD10CM:D58.8 {source="Orphanet:93580/attributed", source="Orphanet:93580/ntbt", source="Orphanet:93580"} +xref: OMIM:612923 {source="Orphanet:93580/e", source="MONDO:equivalentTo", source="Orphanet:93580"} xref: Orphanet:2134 {source="MONDO:subClassOf", source="OMIM:612923"} xref: Orphanet:93580 {source="MONDO:equivalentTo", source="OMIM:612923"} xref: UMLS:C2752039 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612923"} @@ -258934,8 +258819,8 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MO synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612924] synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578] synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924] -xref: ICD10CM:D58.8 {source="ORDO:93578/attributed", source="ORDO:93578/ntbt", source="Orphanet:93578"} -xref: OMIM:612924 {source="ORDO:93578/e", source="MONDO:equivalentTo", source="Orphanet:93578"} +xref: ICD10CM:D58.8 {source="Orphanet:93578", source="Orphanet:93578/attributed", source="Orphanet:93578/ntbt"} +xref: OMIM:612924 {source="MONDO:equivalentTo", source="Orphanet:93578", source="Orphanet:93578/e"} xref: Orphanet:2134 {source="MONDO:subClassOf", source="OMIM:612924"} xref: Orphanet:93578 {source="MONDO:equivalentTo", source="OMIM:612924"} xref: UMLS:C2752038 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612924"} @@ -258958,8 +258843,8 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MO synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612925] synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575] synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925] -xref: ICD10CM:D58.8 {source="Orphanet:93575", source="ORDO:93575/attributed", source="ORDO:93575/ntbt"} -xref: OMIM:612925 {source="ORDO:93575/e", source="Orphanet:93575", source="MONDO:equivalentTo"} +xref: ICD10CM:D58.8 {source="Orphanet:93575/attributed", source="Orphanet:93575/ntbt", source="Orphanet:93575"} +xref: OMIM:612925 {source="Orphanet:93575", source="MONDO:equivalentTo", source="Orphanet:93575/e"} xref: Orphanet:2134 {source="MONDO:subClassOf", source="OMIM:612925"} xref: Orphanet:93575 {source="MONDO:equivalentTo", source="OMIM:612925"} xref: UMLS:C2752037 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612925"} @@ -258982,8 +258867,8 @@ synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MO synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612926] synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926] -xref: ICD10CM:D58.8 {source="ORDO:217023/attributed", source="ORDO:217023/ntbt", source="Orphanet:217023"} -xref: OMIM:612926 {source="MONDO:equivalentTo", source="Orphanet:217023", source="ORDO:217023/e"} +xref: ICD10CM:D58.8 {source="Orphanet:217023", source="Orphanet:217023/attributed", source="Orphanet:217023/ntbt"} +xref: OMIM:612926 {source="Orphanet:217023/e", source="MONDO:equivalentTo", source="Orphanet:217023"} xref: Orphanet:2134 {source="MONDO:subClassOf", source="OMIM:612926"} xref: Orphanet:217023 {source="MONDO:equivalentTo", source="OMIM:612926"} xref: UMLS:C2752036 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612926"} @@ -259022,9 +258907,9 @@ synonym: "GSDXIII" EXACT ABBREVIATION [Orphanet:99849] synonym: "muscle enolase deficiency" EXACT [Orphanet:99849] synonym: "muscular enolase deficiency" EXACT [Orphanet:99849] xref: GARD:0002125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:99849/attributed", source="ORDO:99849/ntbt", source="Orphanet:99849"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:99849", source="Orphanet:99849/attributed", source="Orphanet:99849/ntbt"} xref: MESH:C567861 {source="MONDO:equivalentTo"} -xref: OMIM:612932 {source="MONDO:equivalentTo", source="ORDO:99849/e", source="Orphanet:99849"} +xref: OMIM:612932 {source="MONDO:equivalentTo", source="Orphanet:99849", source="Orphanet:99849/e"} xref: Orphanet:99849 {source="MONDO:equivalentTo", source="OMIM:612932"} xref: UMLS:C2752027 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:99849", source="OMIM:612932"} is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="Orphanet:99849"} ! glycogen storage disease @@ -259054,10 +258939,10 @@ synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426] synonym: "LDHA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:0003160 {source="MONDO:equivalentTo"} xref: HGNC:6535 {source="GARD:0003160"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:284426/attributed", source="ORDO:284426/ntbt", source="Orphanet:284426"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:284426/attributed", source="Orphanet:284426/ntbt", source="Orphanet:284426"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538133 {source="MONDO:equivalentTo"} -xref: OMIM:612933 {source="MONDO:equivalentTo", source="ORDO:284426/e", source="Orphanet:284426"} +xref: OMIM:612933 {source="Orphanet:284426/e", source="MONDO:equivalentTo", source="Orphanet:284426"} xref: Orphanet:2364 {source="MONDO:subClassOf", source="OMIM:612933"} xref: Orphanet:284426 {source="MONDO:equivalentTo", source="OMIM:612933"} xref: SCTID:237982007 {source="MONDO:equivalentTo"} @@ -259091,7 +258976,7 @@ xref: MESH:C567858 {source="MONDO:equivalentTo"} xref: OMIM:612936 {source="DOID:0110802", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="MONDO:subClassOf", source="DOID:0110802", source="OMIM:612936"} xref: UMLS:C2752008 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612936"} -is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia +is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110802", source="MESH:C567858", source="MONDO:Redundant", source="OMIM:612936", source="indirect"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/574 ! AP4M1 @@ -259118,9 +259003,9 @@ synonym: "DPM3-CDG" EXACT CLINGEN_PREFERRED [] synonym: "DPM3-CDG (CDG-Io)" RELATED [GARD:0012395] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [OMIM:612937, OMIM:genemap2] xref: GARD:0012395 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:263494", source="ORDO:263494/attributed", source="ORDO:263494/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:263494/attributed", source="Orphanet:263494/ntbt", source="Orphanet:263494"} xref: MESH:C567857 {source="MONDO:equivalentTo"} -xref: OMIM:612937 {source="ORDO:263494/e", source="Orphanet:263494", source="MONDO:equivalentTo"} +xref: OMIM:612937 {source="Orphanet:263494", source="MONDO:equivalentTo", source="Orphanet:263494/e"} xref: Orphanet:263494 {source="MONDO:equivalentTo", source="OMIM:612937"} xref: SCTID:725044000 {source="MONDO:equivalentTo"} xref: UMLS:C2752007 {source="Orphanet:263494", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612937"} @@ -259142,9 +259027,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:210144"} synonym: "GDFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612938] synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938] synonym: "growth retardation, developmental delay, facial dysmorphism" EXACT [OMIM:612938, OMIM:genemap2] -xref: ICD10CM:Q87.8 {source="Orphanet:210144", source="ORDO:210144/attributed", source="ORDO:210144/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:210144/attributed", source="Orphanet:210144/ntbt", source="Orphanet:210144"} xref: MESH:C567856 {source="MONDO:equivalentTo"} -xref: OMIM:612938 {source="ORDO:210144/e", source="Orphanet:210144", source="MONDO:equivalentTo"} +xref: OMIM:612938 {source="Orphanet:210144", source="MONDO:equivalentTo", source="Orphanet:210144/e"} xref: Orphanet:210144 {source="MONDO:equivalentTo", source="OMIM:612938"} xref: UMLS:C2752001 {source="Orphanet:210144", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612938"} is_a: MONDO:0018731 {source="Orphanet:210144", source="indirect"} ! lethal multiple congenital anomalies/dysmorphic syndrome @@ -259174,9 +259059,9 @@ synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMI synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070137 {source="MONDO:equivalentTo"} xref: GARD:0001641 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:357064/attributed", source="ORDO:357064/ntbt", source="DOID:0070137", source="Orphanet:357064"} +xref: ICD10CM:Q82.8 {source="DOID:0070137", source="Orphanet:357064", source="Orphanet:357064/attributed", source="Orphanet:357064/ntbt"} xref: MESH:C567855 {source="MONDO:equivalentTo"} -xref: OMIM:612940 {source="DOID:0070137", source="MONDO:equivalentTo", source="Orphanet:357064", source="ORDO:357064/e"} +xref: OMIM:612940 {source="Orphanet:357064/e", source="DOID:0070137", source="MONDO:equivalentTo", source="Orphanet:357064"} xref: Orphanet:357064 {source="OMIM:612940", source="DOID:0070137", source="MONDO:equivalentTo"} xref: UMLS:C2751987 {source="OMIM:612940", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:357064"} is_a: MONDO:0019573 {source="MONDO:Redundant", source="Orphanet:357064"} ! autosomal recessive cutis laxa type 2 @@ -259213,9 +259098,9 @@ def: "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare subset: ordo_malformation_syndrome {source="Orphanet:217026"} synonym: "Hadziselimovic syndrome" EXACT [OMIM:612946, Orphanet:217026] synonym: "microcephaly-faciocardioskeletal syndrome" EXACT [OMIM:612946, Orphanet:217026] -xref: ICD10CM:Q87.8 {source="ORDO:217026/attributed", source="ORDO:217026/ntbt", source="Orphanet:217026"} +xref: ICD10CM:Q87.8 {source="Orphanet:217026/attributed", source="Orphanet:217026/ntbt", source="Orphanet:217026"} xref: MESH:C567850 {source="MONDO:equivalentTo"} -xref: OMIM:612946 {source="MONDO:equivalentTo", source="ORDO:217026/e", source="Orphanet:217026"} +xref: OMIM:612946 {source="Orphanet:217026/e", source="MONDO:equivalentTo", source="Orphanet:217026"} xref: Orphanet:217026 {source="MONDO:equivalentTo", source="OMIM:612946"} xref: SCTID:719395001 {source="MONDO:equivalentTo"} xref: UMLS:C2751878 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612946", source="Orphanet:217026"} @@ -259267,9 +259152,9 @@ synonym: "hypomyelination, global cerebral" RELATED [OMIM:612949] synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [DOID:0080349, Orphanet:353217] synonym: "SLC25A12 early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080349 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:353217/attributed", source="ORDO:353217/ntbt", source="Orphanet:353217"} +xref: ICD10CM:G31.8 {source="Orphanet:353217", source="Orphanet:353217/attributed", source="Orphanet:353217/ntbt"} xref: MESH:C567847 {source="MONDO:equivalentTo"} -xref: OMIM:612949 {source="MONDO:equivalentTo", source="Orphanet:353217", source="ORDO:353217/e", source="DOID:0080349"} +xref: OMIM:612949 {source="MONDO:equivalentTo", source="Orphanet:353217", source="DOID:0080349", source="Orphanet:353217/e"} xref: Orphanet:353217 {source="MONDO:equivalentTo", source="DOID:0080349", source="OMIM:612949"} xref: SCTID:726702005 {source="MONDO:equivalentTo"} xref: UMLS:C2751855 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612949"} @@ -259306,12 +259191,12 @@ synonym: "CLWM" EXACT ABBREVIATION [Orphanet:85136] synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [OMIM:612951] synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199] xref: GARD:0013199 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="Orphanet:85136", source="ORDO:85136/attributed", source="ORDO:85136/ntbt"} -xref: MESH:C567845 {source="ORDO:85136/e", source="Orphanet:85136", source="MONDO:equivalentTo"} -xref: OMIM:612951 {source="ORDO:85136/e", source="Orphanet:85136", source="MONDO:equivalentTo"} +xref: ICD10CM:E75.2 {source="Orphanet:85136", source="Orphanet:85136/attributed", source="Orphanet:85136/ntbt"} +xref: MESH:C567845 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} +xref: OMIM:612951 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"} xref: SCTID:720825005 {source="MONDO:equivalentTo"} -xref: UMLS:C2751843 {source="ORDO:85136/e", source="Orphanet:85136", source="OMIM:612951", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +xref: UMLS:C2751843 {source="Orphanet:85136", source="OMIM:612951", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85136/e"} is_a: MONDO:0019046 {source="Orphanet:85136"} ! leukodystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21686 {source="mim2gene_medgen"} ! RNASET2 property_value: confidence "3.7222222222222223" xsd:double @@ -259357,9 +259242,9 @@ synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pa synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351] xref: DOID:0060900 {source="MONDO:equivalentTo"} xref: GARD:0012568 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G24.1 {source="Orphanet:199351", source="ORDO:199351/attributed", source="ORDO:199351/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:199351", source="Orphanet:199351/attributed", source="Orphanet:199351/ntbt"} xref: MESH:C567844 {source="MONDO:equivalentTo"} -xref: OMIM:612953 {source="Orphanet:199351", source="MONDO:equivalentTo", source="DOID:0060900", source="ORDO:199351/e"} +xref: OMIM:612953 {source="Orphanet:199351", source="MONDO:equivalentTo", source="Orphanet:199351/e", source="DOID:0060900"} xref: Orphanet:199351 {source="MONDO:equivalentTo", source="OMIM:612953"} xref: SCTID:720466001 {source="MONDO:equivalentTo"} xref: UMLS:C2751842 {source="Orphanet:199351", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612953"} @@ -259389,9 +259274,9 @@ synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical, OMIM:612954] synonym: "myopathy, myofibrillar, Bag3-related" RELATED [OMIM:612954] synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1, OMIM:612954] xref: DOID:0080097 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="Orphanet:199340", source="ORDO:199340/attributed", source="ORDO:199340/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:199340", source="Orphanet:199340/attributed", source="Orphanet:199340/ntbt"} xref: MESH:C567843 {source="MONDO:equivalentTo"} -xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MONDO:equivalentTo", source="ORDO:199340/e"} +xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MONDO:equivalentTo", source="Orphanet:199340/e"} xref: Orphanet:199340 {source="MONDO:equivalentTo", source="OMIM:612954"} xref: UMLS:C2751831 {source="Orphanet:199340", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612954"} is_a: MONDO:0005336 {source="DOID:0080097", source="MONDO:Redundant", source="indirect"} ! myopathy @@ -259502,8 +259387,8 @@ xref: OMIM:612965 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:612965"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:612965"} xref: UMLS:C2751824 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:612965"} -is_a: MONDO:0010765 {source="OMIM:612965", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0010765 {source="OMIM:612965", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 {source="mim2gene_medgen"} ! NR5A1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -259554,9 +259439,9 @@ synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612989] synonym: "optic atrophy 7" EXACT [OMIM:612989, OMIM:genemap2] synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989] xref: DOID:0111437 {source="MONDO:equivalentTo"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:227976", source="ORDO:227976/attributed", source="ORDO:227976/ntbt"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:227976", source="Orphanet:227976/attributed", source="Orphanet:227976/ntbt"} xref: MESH:C567833 {source="MONDO:equivalentTo"} -xref: OMIM:612989 {source="Orphanet:227976", source="ORDO:227976/e", source="MONDO:equivalentTo"} +xref: OMIM:612989 {source="Orphanet:227976", source="MONDO:equivalentTo", source="Orphanet:227976/e"} xref: Orphanet:227976 {source="MONDO:equivalentTo", source="OMIM:612989"} xref: UMLS:C2751812 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612989"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -259579,7 +259464,7 @@ xref: OMIM:612997 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="MONDO:subClassOf", source="OMIM:612997"} xref: UMLS:C2751811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612997"} is_a: MONDO:0004983 {source="DC-OMIM:612997", source="OMIM:612997"} ! azoospermia -is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder +is_a: MONDO:0017173 {source="Orphanet:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder property_value: confidence "29.333333333333442" xsd:double [Term] @@ -259599,7 +259484,7 @@ xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:612998"} xref: Orphanet:98853 {source="MONDO:subClassOf", source="OMIM:612998"} xref: UMLS:C2751807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612998"} is_a: MONDO:0016830 {source="MESH:C567831", source="MONDO:Redundant", source="OMIM:612998", source="indirect"} ! Emery-Dreifuss muscular dystrophy -is_a: MONDO:0020336 {source="MONDO:Redundant", source="ORDO:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy +is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17089 ! SYNE1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17089 {source="mim2gene_medgen"} ! SYNE1 @@ -259620,7 +259505,7 @@ xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:612999"} xref: Orphanet:98853 {source="MONDO:subClassOf", source="OMIM:612999"} xref: UMLS:C2751805 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612999"} is_a: MONDO:0016830 {source="MONDO:Redundant", source="OMIM:612999", source="indirect"} ! Emery-Dreifuss muscular dystrophy -is_a: MONDO:0020336 {source="MONDO:Redundant", source="ORDO:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy +is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17084 ! SYNE2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17084 {source="mim2gene_medgen"} ! SYNE2 @@ -259661,14 +259546,14 @@ synonym: "encephalocraniocutaneous lipomatosis, somatic mosaic" EXACT [OMIM:6130 synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701] synonym: "Haberland syndrome" EXACT [Orphanet:2396] xref: GARD:0002108 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.2 {source="Orphanet:2396", source="ORDO:2396/attributed", source="ORDO:2396/ntbt"} +xref: ICD10CM:E88.2 {source="Orphanet:2396", source="Orphanet:2396/attributed", source="Orphanet:2396/ntbt"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="ORDO:2396/e"} +xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"} xref: NCIT:C4701 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:613001 {source="Orphanet:2396", source="MONDO:equivalentTo", source="ORDO:2396/e"} +xref: OMIM:613001 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"} xref: Orphanet:2396 {source="OMIM:613001", source="MONDO:equivalentTo"} xref: SCTID:238905009 {source="MONDO:equivalentTo"} -xref: UMLS:C0406612 {source="OMIM:613001", source="Orphanet:2396", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4701", source="ORDO:2396/e"} +xref: UMLS:C0406612 {source="OMIM:613001", source="Orphanet:2396", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2396/e", source="NCIT:C4701"} is_a: MONDO:0002531 {source="MONDO:Entailed", source="Orphanet:2396/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0006574 {source="MESH:C535736", source="NCIT:C4701"} ! lipomatosis is_a: MONDO:0015950 {source="MONDO:Redundant", source="Orphanet:2396"} ! inherited skin tumor @@ -259694,7 +259579,7 @@ xref: OMIM:613002 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="MONDO:subClassOf", source="OMIM:613002"} xref: UMLS:C2751803 {source="OMIM:613002", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000166 {source="DC-OMIM:613002", source="MONDO:Redundant", source="OMIM:613002", source="indirect"} ! encephalopathy, acute, infection-induced -is_a: MONDO:0012521 {source="ORDO:1930/btnt"} ! herpes simplex encephalitis +is_a: MONDO:0012521 {source="Orphanet:1930/btnt"} ! herpes simplex encephalitis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.9297058823529412" xsd:double @@ -259782,7 +259667,7 @@ xref: Orphanet:538963 {source="MONDO:equivalentTo"} xref: UMLS:C2751686 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3552634 {source="MONDO:equivalentTo", source="OMIM:613011"} is_a: MONDO:0000001 {source="Orphanet:538963"} ! disease or disorder -is_a: MONDO:0016536 {source="ORDO:238505/btnt"} ! autosomal recessive lymphoproliferative disease +is_a: MONDO:0016536 {source="Orphanet:238505/btnt"} ! autosomal recessive lymphoproliferative disease is_a: MONDO:0016537 {source="DOID:0060707", source="MESH:C567815", source="MONDO:Redundant", source="OMIM:613011", source="Orphanet:538963", source="indirect"} ! lymphoproliferative syndrome is_a: MONDO:0018814 {source="Orphanet:538963"} ! non-SCID combined immunodeficiency is_a: MONDO:0021094 {source="NCIT:C126344", source="indirect"} ! immunodeficiency disease @@ -259800,12 +259685,12 @@ subset: predisposition synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695] synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013] xref: GARD:0002695 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q43.1 {source="Orphanet:2151", source="ORDO:2151/attributed", source="ORDO:2151/ntbt"} -xref: MESH:C538119 {source="MONDO:equivalentTo", source="Orphanet:2151", source="ORDO:2151/e"} +xref: ICD10CM:Q43.1 {source="Orphanet:2151/attributed", source="Orphanet:2151/ntbt", source="Orphanet:2151"} +xref: MESH:C538119 {source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"} xref: Orphanet:2151 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="OMIM:613013", source="MONDO:relatedTo"} xref: UMLS:C2751682 {source="OMIM:613013", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2751683 {source="OMIM:613013", source="MONDO:equivalentTo", source="Orphanet:2151", source="ORDO:2151/e"} +xref: UMLS:C2751683 {source="OMIM:613013", source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"} is_a: MONDO:0015246 {source="Orphanet:2151"} ! syndromic anorectal malformation is_a: MONDO:0021189 {source="Orphanet:2151"} ! intestinal motility disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare @@ -259886,7 +259771,7 @@ xref: OMIM:613021 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="MONDO:subClassOf", source="OMIM:613021"} xref: UMLS:C2751666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613021"} is_a: MONDO:0004822 {source="MESH:C567813", source="MONDO:Redundant", source="OMIM:613021", source="indirect"} ! bronchiectasis -is_a: MONDO:0018956 {source="ORDO:60033/btnt"} ! idiopathic bronchiectasis +is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis intersection_of: MONDO:0004822 ! bronchiectasis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10599 ! SCNN1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10599 {source="mim2gene_medgen"} ! SCNN1A @@ -259901,7 +259786,7 @@ synonym: "follicular lymphoma, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM: xref: OMIM:613024 {source="MONDO:equivalentTo"} xref: Orphanet:545 {source="MONDO:subClassOf", source="OMIM:613024"} xref: UMLS:C2751665 {source="OMIM:613024", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018906 {source="ORDO:545/btnt"} ! follicular lymphoma +is_a: MONDO:0018906 {source="Orphanet:545/btnt"} ! follicular lymphoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/989 {source="mim2gene_medgen"} ! BCL10 property_value: confidence "28.000000000000053" xsd:double @@ -259934,12 +259819,12 @@ synonym: "Del(19)(q13.11)" EXACT [Orphanet:217346] synonym: "monosomy 19q13.11" EXACT [DOID:0060408, Orphanet:217346] xref: DOID:0060408 {source="MONDO:equivalentTo"} xref: GARD:0010592 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:217346/attributed", source="ORDO:217346/ntbt", source="Orphanet:217346"} +xref: ICD10CM:Q93.5 {source="Orphanet:217346/attributed", source="Orphanet:217346/ntbt", source="Orphanet:217346"} xref: MESH:C567810 {source="MONDO:equivalentTo", source="DOID:0060408"} -xref: OMIM:613026 {source="MONDO:superClassOf", source="DOID:0060408", source="Orphanet:217346", source="ORDO:217346/e"} +xref: OMIM:613026 {source="Orphanet:217346/e", source="MONDO:superClassOf", source="DOID:0060408", source="Orphanet:217346"} xref: Orphanet:217346 {source="OMIM:613026", source="MONDO:equivalentTo", source="DOID:0060408"} xref: SCTID:719599008 {source="MONDO:equivalentTo"} -xref: UMLS:C2751651 {source="OMIM:613026", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060408", source="Orphanet:217346", source="ORDO:217346/e"} +xref: UMLS:C2751651 {source="OMIM:613026", source="Orphanet:217346/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060408", source="Orphanet:217346"} xref: UMLS:C4304577 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217346", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0000761 {source="DC-OMIM:613026", source="DOID:0060408"} ! syndrome caused by partial chromosomal deletion @@ -259970,7 +259855,7 @@ synonym: "PHKG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:pat synonym: "PHKG2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] xref: DOID:0111043 {source="MONDO:equivalentTo"} xref: MESH:C567809 {source="MONDO:equivalentTo"} -xref: OMIM:613027 {source="MONDO:equivalentTo", source="DOID:0111043", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="ORDO:264580/btnt", source="Orphanet:264580"} +xref: OMIM:613027 {source="MONDO:equivalentTo", source="Orphanet:264580/btnt", source="DOID:0111043", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:264580"} xref: Orphanet:264580 {source="OMIM:613027"} xref: UMLS:C2751643 {source="NCBI:mim2gene_medline", source="OMIM:613027", source="MONDO:equivalentTo"} is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency @@ -260100,11 +259985,11 @@ synonym: "multiple pituitary hormone deficiencies, genetic forms" EXACT [Orphane synonym: "pituitary hormone deficiency, combined" EXACT [OMIMPS:613038] xref: GARD:0002252 {source="MONDO:equivalentTo"} xref: GARD:0010602 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="ORDO:95494/attributed", source="ORDO:95494/ntbt", source="Orphanet:95494"} -xref: OMIM:182230 {source="MONDO:superClassOf", source="ORDO:95494/btnt", source="Orphanet:95494"} -xref: OMIM:262600 {source="MONDO:superClassOf", source="ORDO:95494/btnt", source="Orphanet:95494"} -xref: OMIM:613038 {source="MONDO:superClassOf", source="ORDO:95494/e", source="Orphanet:95494"} -xref: OMIM:613986 {source="MONDO:superClassOf", source="ORDO:95494/btnt", source="Orphanet:95494"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95494/attributed", source="Orphanet:95494/ntbt", source="Orphanet:95494"} +xref: OMIM:182230 {source="MONDO:superClassOf", source="Orphanet:95494/btnt", source="Orphanet:95494"} +xref: OMIM:262600 {source="MONDO:superClassOf", source="Orphanet:95494/btnt", source="Orphanet:95494"} +xref: OMIM:613038 {source="Orphanet:95494/e", source="MONDO:superClassOf", source="Orphanet:95494"} +xref: OMIM:613986 {source="MONDO:superClassOf", source="Orphanet:95494/btnt", source="Orphanet:95494"} xref: OMIMPS:613038 {source="MONDO:equivalentTo"} xref: Orphanet:95494 {source="OMIM:613038", source="MONDO:equivalentTo"} xref: SCTID:718182008 {source="MONDO:equivalentTo"} @@ -260285,10 +260170,10 @@ synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency" EXACT CLINGEN_PREFERRED [] xref: DOID:0050719 {source="MONDO:equivalentTo"} xref: GARD:0010594 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G31.8 {source="ORDO:217382/attributed", source="ORDO:217382/ntbt", source="Orphanet:217382"} +xref: ICD10CM:G31.8 {source="Orphanet:217382", source="Orphanet:217382/attributed", source="Orphanet:217382/ntbt"} xref: ICD9:266.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C567791 {source="MONDO:equivalentTo"} -xref: OMIM:613068 {source="MONDO:equivalentTo", source="Orphanet:217382", source="ORDO:217382/e"} +xref: OMIM:613068 {source="MONDO:equivalentTo", source="Orphanet:217382", source="Orphanet:217382/e"} xref: Orphanet:217382 {source="OMIM:613068", source="MONDO:equivalentTo"} xref: SCTID:711403001 {source="MONDO:equivalentTo"} xref: UMLS:C2751584 {source="OMIM:613068", source="NCBI:mim2gene_medline", source="Orphanet:217382", source="MONDO:notFoundInDiseaseSubset"} @@ -260314,8 +260199,8 @@ synonym: "liver failure, transient infantile" EXACT [OMIM:613070, OMIM:genemap2] synonym: "transient infantile liver failure" EXACT [GARD:0010593] synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:0010593 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:K72.0 {source="ORDO:217371/attributed", source="ORDO:217371/ntbt", source="Orphanet:217371"} -xref: OMIM:613070 {source="MONDO:equivalentTo", source="Orphanet:217371", source="ORDO:217371/e"} +xref: ICD10CM:K72.0 {source="Orphanet:217371", source="Orphanet:217371/attributed", source="Orphanet:217371/ntbt"} +xref: OMIM:613070 {source="MONDO:equivalentTo", source="Orphanet:217371", source="Orphanet:217371/e"} xref: Orphanet:217371 {source="MONDO:equivalentTo", source="OMIM:613070"} xref: UMLS:C2751567 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3278664 {source="MONDO:equivalentTo", source="OMIM:613070"} @@ -260345,7 +260230,7 @@ xref: OMIM:613071 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="MONDO:subClassOf", source="OMIM:613071"} xref: UMLS:C2751324 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613071"} is_a: MONDO:0004822 {source="MESH:C567772", source="MONDO:Redundant", source="OMIM:613071", source="indirect"} ! bronchiectasis -is_a: MONDO:0018956 {source="ORDO:60033/btnt"} ! idiopathic bronchiectasis +is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis intersection_of: MONDO:0004822 ! bronchiectasis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10602 ! SCNN1G relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10602 {source="mim2gene_medgen"} ! SCNN1G @@ -260364,7 +260249,7 @@ xref: MESH:C567771 {source="MONDO:equivalentTo"} xref: OMIM:613073 {source="MONDO:equivalentTo"} xref: Orphanet:1040 {source="MONDO:subClassOf", source="OMIM:613073"} xref: UMLS:C2751322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613073"} -is_a: MONDO:0015177 {source="MONDO:Redundant", source="ORDO:1040/btnt"} ! metaphyseal anadysplasia +is_a: MONDO:0015177 {source="MONDO:Redundant", source="Orphanet:1040/btnt"} ! metaphyseal anadysplasia intersection_of: MONDO:0015177 ! metaphyseal anadysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7176 ! MMP9 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7176 {source="mim2gene_medgen"} ! MMP9 @@ -260404,9 +260289,9 @@ synonym: "RIN2 deficiency" EXACT [Orphanet:217335] synonym: "RIN2 syndrome" EXACT CLINGEN_PREFERRED [] synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [OMIM:613075] synonym: "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" EXACT [Orphanet:217335] -xref: ICD10CM:Q82.8 {source="ORDO:217335/attributed", source="ORDO:217335/ntbt", source="Orphanet:217335"} +xref: ICD10CM:Q82.8 {source="Orphanet:217335/attributed", source="Orphanet:217335/ntbt", source="Orphanet:217335"} xref: MESH:C567770 {source="MONDO:equivalentTo"} -xref: OMIM:613075 {source="MONDO:equivalentTo", source="Orphanet:217335", source="ORDO:217335/e"} +xref: OMIM:613075 {source="Orphanet:217335/e", source="MONDO:equivalentTo", source="Orphanet:217335"} xref: Orphanet:217335 {source="MONDO:equivalentTo", source="OMIM:613075"} xref: SCTID:723367005 {source="MONDO:equivalentTo"} xref: UMLS:C2751321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613075", source="Orphanet:217335"} @@ -260426,9 +260311,9 @@ synonym: "myopathy with cataract and combined respiratory-chain deficiency" RELA synonym: "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" EXACT [OMIM:613076, OMIM:genemap2] synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [OMIM:613076] xref: GARD:0010522 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G71.3 {source="Orphanet:330054", source="ORDO:330054/attributed", source="ORDO:330054/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:330054", source="Orphanet:330054/attributed", source="Orphanet:330054/ntbt"} xref: MESH:C567769 {source="MONDO:equivalentTo"} -xref: OMIM:613076 {source="Orphanet:330054", source="ORDO:330054/e", source="MONDO:equivalentTo"} +xref: OMIM:613076 {source="Orphanet:330054", source="MONDO:equivalentTo", source="Orphanet:330054/e"} xref: Orphanet:330054 {source="MONDO:equivalentTo", source="OMIM:613076"} xref: UMLS:C2751320 {source="Orphanet:330054", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613076"} is_a: MONDO:0009637 {source="MESH:C567769", source="Orphanet:330054"} ! inborn mitochondrial myopathy @@ -260457,7 +260342,7 @@ xref: OMIM:613077 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:subClassOf", source="OMIM:613077"} xref: UMLS:C2751319 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613077"} is_a: MONDO:0000090 {source="MONDO:0013117/inferred", source="MONDO:Redundant", source="OMIM:613077", source="indirect"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0008003 {source="ORDO:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia +is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17296 ! RRM2B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17296 {source="mim2gene_medgen"} ! RRM2B @@ -260477,7 +260362,7 @@ synonym: "RAD50 deficiency" EXACT [Orphanet:240760] synonym: "Rad50 deficiency" RELATED [OMIM:613078] xref: MESH:C567767 {source="MONDO:equivalentTo"} xref: NCIT:C153178 {source="MONDO:equivalentTo"} -xref: OMIM:613078 {source="Orphanet:240760", source="ORDO:240760/e", source="MONDO:equivalentTo"} +xref: OMIM:613078 {source="Orphanet:240760", source="MONDO:equivalentTo", source="Orphanet:240760/e"} xref: Orphanet:240760 {source="OMIM:613078", source="MONDO:equivalentTo"} xref: SCTID:766753005 {source="MONDO:equivalentTo"} xref: UMLS:C2751318 {source="OMIM:613078", source="Orphanet:240760", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -260496,8 +260381,7 @@ synonym: "autosomal recessive deafness 77" NARROW [DOID:0110525] synonym: "autosomal recessive nonsyndromic deafness 77" NARROW CLINGEN_PREFERRED [OMIM:613079] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 77" NARROW [DOID:0110525, MONDORULE:2] -synonym: "deafness, autosomal recessive 77" NARROW [MONDO:Lexical, OMIM:613079] -synonym: "deafness, autosomal recessive 77" NARROW [OMIM:613079, OMIM:genemap2] +synonym: "deafness, autosomal recessive 77" NARROW [MONDO:Lexical, OMIM:613079, OMIM:genemap2] synonym: "deafness, autosomal recessive type 77" NARROW [MONDORULE:2, OMIM:613079] synonym: "DFNB77" NARROW ABBREVIATION [DOID:0110525, MONDO:Lexical, OMIM:613079] synonym: "LOXHD1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -260530,7 +260414,7 @@ xref: MESH:C567766 {source="MONDO:equivalentTo"} xref: OMIM:613080 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:613080"} xref: UMLS:C2751317 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613080"} -is_a: MONDO:0010765 {source="MESH:C567766", source="OMIM:613080", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="MESH:C567766", source="OMIM:613080", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1552 {source="mim2gene_medgen"} ! CBX2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -260544,7 +260428,7 @@ xref: OMIM:613085 {source="MONDO:equivalentTo"} xref: Orphanet:98976 {source="MONDO:subClassOf", source="OMIM:613085"} xref: UMLS:C1428921 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613085"} is_a: MONDO:0000365 ! primary congenital glaucoma -is_a: MONDO:0020366 {source="MONDO:Redundant", source="ORDO:98976/btnt", source="indirect"} ! congenital glaucoma +is_a: MONDO:0020366 {source="MONDO:Redundant", source="Orphanet:98976/btnt", source="indirect"} ! congenital glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -260558,7 +260442,7 @@ xref: OMIM:613086 {source="MONDO:equivalentTo"} xref: Orphanet:98976 {source="MONDO:subClassOf", source="OMIM:613086"} xref: UMLS:C2751316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613086"} is_a: MONDO:0000365 ! primary congenital glaucoma -is_a: MONDO:0020366 {source="MONDO:Redundant", source="ORDO:98976/btnt", source="indirect"} ! congenital glaucoma +is_a: MONDO:0020366 {source="MONDO:Redundant", source="Orphanet:98976/btnt", source="indirect"} ! congenital glaucoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6715 {source="mim2gene_medgen"} ! LTBP2 property_value: confidence "0.6519518666964457" xsd:double @@ -260606,9 +260490,9 @@ synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of fac synonym: "Clapo" RELATED [OMIM:613089] synonym: "CLAPO syndrome, somatic" EXACT [OMIM:613089, OMIM:genemap2] synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089] -xref: ICD10CM:Q87.3 {source="Orphanet:168984", source="ORDO:168984/attributed", source="ORDO:168984/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:168984/attributed", source="Orphanet:168984/ntbt", source="Orphanet:168984"} xref: MESH:C567763 {source="MONDO:equivalentTo"} -xref: OMIM:613089 {source="ORDO:168984/e", source="Orphanet:168984", source="MONDO:equivalentTo"} +xref: OMIM:613089 {source="Orphanet:168984", source="MONDO:equivalentTo", source="Orphanet:168984/e"} xref: Orphanet:168984 {source="OMIM:613089", source="MONDO:equivalentTo"} xref: SCTID:717765001 {source="MONDO:equivalentTo"} xref: UMLS:C2751313 {source="OMIM:613089", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -260656,9 +260540,9 @@ synonym: "Verma-Naumoff syndrome" EXACT [DOID:0110087, OMIM:613091] xref: DOID:0050549 {source="MONDO:equivalentTo"} xref: DOID:0110087 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0004834 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.2 {source="ORDO:93270/attributed", source="ORDO:93270/ntbt", source="DOID:0110087", source="Orphanet:93270"} +xref: ICD10CM:Q77.2 {source="Orphanet:93270/attributed", source="Orphanet:93270/ntbt", source="DOID:0110087", source="Orphanet:93270"} xref: NCIT:C163755 {source="MONDO:equivalentTo"} -xref: OMIM:613091 {source="ORDO:93270/ntbt", source="MONDO:equivalentTo", source="DOID:0110087", source="Orphanet:93270"} +xref: OMIM:613091 {source="MONDO:equivalentTo", source="Orphanet:93270/ntbt", source="DOID:0110087", source="Orphanet:93270"} xref: Orphanet:474 {source="MONDO:subClassOf", source="OMIM:613091"} xref: Orphanet:93270 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="OMIM:613091", source="MONDO:superClassOf"} xref: SCTID:27330009 {source="MONDO:equivalentTo"} @@ -260667,8 +260551,8 @@ xref: UMLS:C2751311 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis is_a: MONDO:0002254 {source="DOID:0050549", source="MONDO:0019663/inferred", source="MONDO:Redundant"} ! syndromic disease is_a: MONDO:0015461 {source="Orphanet:93270"} ! short rib-polydactyly syndrome is_a: MONDO:0018770 {source="DOID:0110087", source="OMIM:613091"} ! Jeune syndrome -relationship: excluded_subClassOf MONDO:0019662 {source="ORDO:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type -relationship: excluded_subClassOf MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type +relationship: excluded_subClassOf MONDO:0019662 {source="Orphanet:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type +relationship: excluded_subClassOf MONDO:0019664 {source="Orphanet:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type property_value: confidence "0.7173913043478257" xsd:double [Term] @@ -260693,7 +260577,7 @@ synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELA synonym: "tubulointerstitial kidney disease, autosomal dominant, 4" EXACT [OMIM:613092, OMIM:genemap2] xref: GARD:0013461 {source="MONDO:equivalentTo"} xref: MESH:C567760 {source="MONDO:equivalentTo"} -xref: OMIM:613092 {source="MONDO:equivalentTo", source="ORDO:217330/e", source="Orphanet:217330"} +xref: OMIM:613092 {source="Orphanet:217330/e", source="MONDO:equivalentTo", source="Orphanet:217330"} xref: Orphanet:217330 {source="MONDO:equivalentTo", source="OMIM:613092"} xref: SCTID:721840000 {source="MONDO:equivalentTo"} xref: UMLS:C2751310 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613092", source="Orphanet:217330"} @@ -260745,7 +260629,7 @@ xref: OMIM:613094 {source="MONDO:equivalentTo", source="DOID:0060836"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="OMIM:613094", source="DOID:0060836"} xref: UMLS:C2751307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613094"} is_a: MONDO:0000062 {source="DC-OMIM:613094", source="MONDO:Redundant", source="OMIM:613094"} ! isolated microphthalmia -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4221 ! GDF6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4221 {source="mim2gene_medgen"} ! GDF6 @@ -260788,12 +260672,12 @@ synonym: "hereditary spastic paraplegia type 36" EXACT [DOID:0110787, MONDORULE: synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613096] synonym: "SPG36" EXACT ABBREVIATION [DOID:0110787, MONDO:Lexical, OMIM:613096, Orphanet:320365] xref: DOID:0110787 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="DOID:0110787", source="MONDO:subClassOf", source="Orphanet:320365", source="ORDO:320365/attributed", source="ORDO:320365/ntbt"} +xref: ICD10CM:G11.4 {source="DOID:0110787", source="MONDO:subClassOf", source="Orphanet:320365", source="Orphanet:320365/attributed", source="Orphanet:320365/ntbt"} xref: MESH:C567930 {source="MONDO:equivalentTo"} -xref: OMIM:613096 {source="DOID:0110787", source="Orphanet:320365", source="ORDO:320365/e", source="MONDO:equivalentTo"} +xref: OMIM:613096 {source="DOID:0110787", source="Orphanet:320365", source="MONDO:equivalentTo", source="Orphanet:320365/e"} xref: Orphanet:320365 {source="DOID:0110787", source="MONDO:equivalentTo", source="OMIM:613096"} xref: SCTID:723819007 {source="MONDO:equivalentTo"} -xref: UMLS:C2936879 {source="Orphanet:320365", source="ORDO:320365/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613096"} +xref: UMLS:C2936879 {source="Orphanet:320365", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:320365/e", source="OMIM:613096"} xref: UMLS:C4510078 {source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:320365"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110787", source="MESH:C567930", source="MONDO:Redundant", source="OMIM:613096", source="Orphanet:320365/inferred"} ! hereditary spastic paraplegia @@ -260811,7 +260695,7 @@ synonym: "susceptibility to cutaneous malignant melanoma 5" RELATED [OMIM:613099 xref: OMIM:613099 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:613099"} xref: UMLS:C2751295 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613099"} -is_a: MONDO:0018961 {source="MONDO:Redundant", source="ORDO:618/btnt", source="indirect"} ! familial melanoma +is_a: MONDO:0018961 {source="MONDO:Redundant", source="Orphanet:618/btnt", source="indirect"} ! familial melanoma is_a: MONDO:0020573 {source="OMIM:613099"} ! inherited disease susceptibility is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:613099"} ! familial cutaneous melanoma intersection_of: MONDO:0024462 ! familial cutaneous melanoma @@ -260874,7 +260758,7 @@ subset: ordo_disease {source="Orphanet:217407"} synonym: "hereditary hypotrichosis with recurrent skin vesicles" EXACT CLINGEN_PREFERRED [] synonym: "hypotrichosis and recurrent skin vesicles" RELATED [OMIM:613102] xref: MESH:C567751 {source="MONDO:equivalentTo"} -xref: OMIM:613102 {source="Orphanet:217407", source="ORDO:217407/e", source="MONDO:equivalentTo"} +xref: OMIM:613102 {source="Orphanet:217407", source="MONDO:equivalentTo", source="Orphanet:217407/e"} xref: Orphanet:217407 {source="OMIM:613102", source="MONDO:equivalentTo"} xref: SCTID:724350009 {source="MONDO:equivalentTo"} xref: UMLS:C2751292 {source="OMIM:613102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -260895,7 +260779,7 @@ xref: MESH:C567750 {source="MONDO:equivalentTo"} xref: OMIM:613105 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="MONDO:subClassOf", source="OMIM:613105"} xref: UMLS:C2751290 {source="OMIM:613105", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008982 {source="MONDO:Redundant", source="OMIM:613105", source="ORDO:75377/btnt"} ! central areolar choroidal dystrophy +is_a: MONDO:0008982 {source="MONDO:Redundant", source="OMIM:613105", source="Orphanet:75377/btnt"} ! central areolar choroidal dystrophy intersection_of: MONDO:0008982 ! central areolar choroidal dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9942 ! PRPH2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9942 {source="mim2gene_medgen"} ! PRPH2 @@ -260925,7 +260809,7 @@ xref: MESH:C567748 {source="MONDO:equivalentTo"} xref: OMIM:613107 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="MONDO:subClassOf", source="OMIM:613107"} xref: UMLS:C2751288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613107"} -is_a: MONDO:0008742 {source="MONDO:Redundant", source="ORDO:486/btnt"} ! autosomal dominant severe congenital neutropenia +is_a: MONDO:0008742 {source="MONDO:Redundant", source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia is_a: MONDO:0018542 {source="MONDO:Redundant", source="OMIM:613107", source="indirect"} ! severe congenital neutropenia intersection_of: MONDO:0008742 ! autosomal dominant severe congenital neutropenia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4237 ! GFI1 @@ -260967,7 +260851,7 @@ xref: MESH:C567747 {source="MONDO:equivalentTo"} xref: OMIM:613112 {source="DOID:0090102", source="MONDO:equivalentTo"} xref: Orphanet:140957 {source="MONDO:subClassOf", source="OMIM:613112", source="DOID:0090102"} xref: UMLS:C2751259 {source="OMIM:613112", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015372 {source="MONDO:Redundant", source="ORDO:140957/btnt"} ! autosomal dominant macrothrombocytopenia +is_a: MONDO:0015372 {source="MONDO:Redundant", source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia is_a: MONDO:0100241 {source="DOID:0090102", source="MESH:C567747", source="MONDO:Redundant", source="indirect"} ! inherited thrombocytopenia intersection_of: MONDO:0015372 ! autosomal dominant macrothrombocytopenia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16257 ! TUBB1 @@ -260989,7 +260873,7 @@ xref: DOID:0070150 {source="MONDO:equivalentTo"} xref: OMIM:613115 {source="MONDO:equivalentTo", source="DOID:0070150"} xref: Orphanet:970 {source="MONDO:subClassOf", source="OMIM:613115"} xref: UMLS:C2751092 {source="NCBI:mim2gene_medline", source="OMIM:613115", source="MONDO:equivalentTo"} -is_a: MONDO:0019941 {source="DOID:0070150", source="MONDO:Redundant", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 +is_a: MONDO:0019941 {source="DOID:0070150", source="MONDO:Redundant", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25964 ! RETREG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25964 {source="mim2gene_medgen"} ! RETREG1 @@ -261004,9 +260888,9 @@ synonym: "THPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613116] synonym: "thrombophilia 11 due to HRG deficiency" EXACT [OMIM:613116, OMIM:genemap2] synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [OMIM:613116] synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical, OMIM:613116] -xref: ICD10CM:D68.5 {source="ORDO:217467/attributed", source="ORDO:217467/ntbt", source="Orphanet:217467"} +xref: ICD10CM:D68.5 {source="Orphanet:217467/attributed", source="Orphanet:217467/ntbt", source="Orphanet:217467"} xref: MESH:C567737 {source="MONDO:equivalentTo"} -xref: OMIM:613116 {source="MONDO:equivalentTo", source="Orphanet:217467", source="ORDO:217467/e"} +xref: OMIM:613116 {source="Orphanet:217467/e", source="MONDO:equivalentTo", source="Orphanet:217467"} xref: Orphanet:217467 {source="OMIM:613116", source="MONDO:equivalentTo"} xref: UMLS:C2751090 {source="OMIM:613116", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2751091 {source="OMIM:613116", source="MONDO:notFoundInDiseaseSubset"} @@ -261038,12 +260922,12 @@ synonym: "thrombophilia due to antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "thrombophilia due to antithrombin III deficiency" EXACT [GARD:0006148] xref: DOID:3755 {source="MONDO:equivalentTo"} xref: GARD:0006148 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D68.5 {source="ORDO:82/ntbt", source="ORDO:82/inclusion", source="Orphanet:82"} +xref: ICD10CM:D68.5 {source="Orphanet:82/inclusion", source="Orphanet:82/ntbt", source="Orphanet:82"} xref: ICD10CM:D68.59 {source="DOID:3755"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D020152 {source="DOID:3755", source="MONDO:equivalentTo"} xref: NCIT:C98815 {source="MONDO:subClassOf", source="DOID:3755"} -xref: OMIM:613118 {source="DOID:3755", source="MONDO:equivalentTo", source="ORDO:82/e", source="Orphanet:82"} +xref: OMIM:613118 {source="Orphanet:82/e", source="DOID:3755", source="MONDO:equivalentTo", source="Orphanet:82"} xref: Orphanet:82 {source="MONDO:equivalentTo", source="OMIM:613118"} xref: SCTID:36351005 {source="DOID:3755", source="MONDO:equivalentTo"} xref: UMLS:C0272375 {source="NCIT:C98815", source="NCBI:mim2gene_medline", source="DOID:3755", source="MONDO:equivalentTo", source="OMIM:613118"} @@ -261167,11 +261051,11 @@ synonym: "PKDYS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613135, Orphanet:238455 xref: GARD:0010484 {source="MONDO:equivalentTo"} xref: MESH:C567730 {source="MONDO:equivalentTo"} xref: NCIT:C129866 {source="MONDO:equivalentTo"} -xref: OMIM:613135 {source="MONDO:superClassOf", source="Orphanet:238455", source="ORDO:238455/e"} +xref: OMIM:613135 {source="Orphanet:238455/e", source="MONDO:superClassOf", source="Orphanet:238455"} xref: OMIMPS:613135 {source="MONDO:equivalentTo"} xref: Orphanet:238455 {source="OMIM:613135", source="MONDO:equivalentTo"} xref: SCTID:722763000 {source="MONDO:equivalentTo"} -xref: UMLS:C2751067 {source="OMIM:613135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129866", source="Orphanet:238455", source="ORDO:238455/e"} +xref: UMLS:C2751067 {source="OMIM:613135", source="Orphanet:238455/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129866", source="Orphanet:238455"} is_a: MONDO:0002254 {source="NCIT:C129866"} ! syndromic disease is_a: MONDO:0018329 {source="Orphanet:238455"} ! persistent combined dystonia is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder @@ -261188,7 +261072,7 @@ xref: MESH:C567729 {source="MONDO:equivalentTo"} xref: OMIM:613144 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="MONDO:subClassOf", source="OMIM:613144"} xref: UMLS:C2751055 {source="OMIM:613144", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008982 {source="OMIM:613144", source="ORDO:75377/btnt"} ! central areolar choroidal dystrophy +is_a: MONDO:0008982 {source="OMIM:613144", source="Orphanet:75377/btnt"} ! central areolar choroidal dystrophy property_value: confidence "0.47078947368421065" xsd:double [Term] @@ -261222,7 +261106,7 @@ xref: OMIM:613148 {source="DOID:0110899", source="MONDO:equivalentTo"} xref: Orphanet:238569 {source="MONDO:subClassOf", source="OMIM:613148"} xref: UMLS:C2751053 {source="NCBI:mim2gene_medline", source="OMIM:613148", source="MONDO:equivalentTo"} is_a: MONDO:0005265 {source="DOID:0110899", source="MESH:C567728", source="MONDO:Redundant", source="OMIM:613148", source="indirect"} ! inflammatory bowel disease -is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5964 ! IL10RA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5964 {source="mim2gene_medgen"} ! IL10RA @@ -261244,7 +261128,7 @@ xref: OMIM:613150 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="MONDO:subClassOf", source="OMIM:613150"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:613150"} xref: UMLS:C3150411 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126742", source="OMIM:613150"} -is_a: MONDO:0000171 {source="OMIM:613150", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="OMIM:613150", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126742", source="OMIM:613150/inferred"} ! muscular dystrophy is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 @@ -261265,7 +261149,7 @@ xref: OMIM:613151 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="MONDO:subClassOf", source="OMIM:613151"} xref: UMLS:C3150412 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613151"} is_a: MONDO:0000172 {source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B -is_a: MONDO:0018277 {source="ORDO:370959/btnt"} ! congenital muscular dystrophy with cerebellar involvement +is_a: MONDO:0018277 {source="Orphanet:370959/btnt"} ! congenital muscular dystrophy with cerebellar involvement is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19139 {source="mim2gene_medgen"} ! POMGNT1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -261284,7 +261168,7 @@ xref: OMIM:613152 {source="MONDO:equivalentTo"} xref: Orphanet:370980 {source="MONDO:subClassOf", source="OMIM:613152"} xref: UMLS:C2751052 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613152"} is_a: MONDO:0000172 {source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B -is_a: MONDO:0018279 {source="ORDO:370980/btnt"} ! congenital muscular dystrophy without intellectual disability +is_a: MONDO:0018279 {source="Orphanet:370980/btnt"} ! congenital muscular dystrophy without intellectual disability is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3622 {source="mim2gene_medgen"} ! FKTN relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -261303,7 +261187,7 @@ xref: OMIM:613153 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="MONDO:subClassOf", source="OMIM:613153"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:613153"} xref: UMLS:C3150413 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613153"} -is_a: MONDO:0000171 {source="OMIM:613153", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="OMIM:613153", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17997 {source="mim2gene_medgen"} ! FKRP @@ -261325,7 +261209,7 @@ xref: OMIM:613154 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="MONDO:subClassOf", source="OMIM:613154"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:613154"} xref: UMLS:C3150414 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126743", source="OMIM:613154"} -is_a: MONDO:0000171 {source="OMIM:613154", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="OMIM:613154", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126743", source="OMIM:613154/inferred"} ! muscular dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6511 {source="mim2gene_medgen"} ! LARGE1 @@ -261390,8 +261274,8 @@ synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" R synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110292 {source="MONDO:equivalentTo"} xref: GARD:0012540 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110292", source="Orphanet:206564", source="ORDO:206564/attributed", source="ORDO:206564/ntbt"} -xref: OMIM:613157 {source="MONDO:equivalentTo", source="DOID:0110292", source="Orphanet:206564", source="ORDO:206564/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110292", source="Orphanet:206564/attributed", source="Orphanet:206564/ntbt", source="Orphanet:206564"} +xref: OMIM:613157 {source="Orphanet:206564/e", source="MONDO:equivalentTo", source="DOID:0110292", source="Orphanet:206564"} xref: Orphanet:206564 {source="OMIM:613157", source="MONDO:equivalentTo", source="DOID:0110292"} xref: UMLS:C3150417 {source="OMIM:613157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="DC-OMIM:613157", source="OMIM:613157"} ! muscular dystrophy-dystroglycanopathy, type C @@ -261425,8 +261309,8 @@ synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" REL synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110298 {source="MONDO:equivalentTo"} xref: GARD:0012539 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206559", source="ORDO:206559/attributed", source="ORDO:206559/ntbt", source="DOID:0110298"} -xref: OMIM:613158 {source="Orphanet:206559", source="ORDO:206559/e", source="MONDO:equivalentTo", source="DOID:0110298"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206559", source="Orphanet:206559/attributed", source="Orphanet:206559/ntbt", source="DOID:0110298"} +xref: OMIM:613158 {source="Orphanet:206559", source="MONDO:equivalentTo", source="Orphanet:206559/e", source="DOID:0110298"} xref: Orphanet:206559 {source="OMIM:613158", source="MONDO:equivalentTo", source="DOID:0110298"} xref: UMLS:C3150418 {source="OMIM:613158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="DC-OMIM:613158", source="OMIM:613158"} ! muscular dystrophy-dystroglycanopathy, type C @@ -261471,13 +261355,13 @@ synonym: "Beta-alanine synthase deficiency" EXACT [Orphanet:65287] synonym: "BETA-ureidopropionase deficiency" RELATED [OMIM:613161] synonym: "beta-ureidopropionase deficiency" EXACT CLINGEN_PREFERRED [OMIM:613161] synonym: "UPB1D" RELATED ABBREVIATION [OMIM:613161] -xref: ICD10CM:E79.8 {source="ORDO:65287/attributed", source="ORDO:65287/ntbt", source="Orphanet:65287"} +xref: ICD10CM:E79.8 {source="Orphanet:65287/attributed", source="Orphanet:65287/ntbt", source="Orphanet:65287"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C563210 {source="MONDO:equivalentTo"} -xref: OMIM:613161 {source="MONDO:equivalentTo", source="ORDO:65287/e", source="Orphanet:65287"} +xref: OMIM:613161 {source="Orphanet:65287/e", source="MONDO:equivalentTo", source="Orphanet:65287"} xref: Orphanet:65287 {source="MONDO:equivalentTo", source="OMIM:613161"} xref: SCTID:124511000 {source="MONDO:equivalentTo"} -xref: UMLS:C1291512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613161", source="ORDO:65287/e", source="Orphanet:65287"} +xref: UMLS:C1291512 {source="NCBI:mim2gene_medline", source="Orphanet:65287/e", source="MONDO:equivalentTo", source="OMIM:613161", source="Orphanet:65287"} is_a: MONDO:0019058 {source="Orphanet:65287"} ! neurometabolic disease is_a: MONDO:0019238 {source="Orphanet:65287"} ! inborn disorder of pyrimidine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16297 {source="mim2gene_medgen"} ! UPB1 @@ -261498,8 +261382,8 @@ synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG45" EXACT ABBREVIATION [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396] synonym: "SPG65" EXACT ABBREVIATION [DOID:0110797, Orphanet:320396] xref: DOID:0110797 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320396", source="DOID:0110797", source="ORDO:320396/attributed", source="ORDO:320396/ntbt"} -xref: OMIM:613162 {source="Orphanet:320396", source="DOID:0110797", source="ORDO:320396/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320396", source="DOID:0110797", source="Orphanet:320396/attributed", source="Orphanet:320396/ntbt"} +xref: OMIM:613162 {source="Orphanet:320396", source="DOID:0110797", source="MONDO:equivalentTo", source="Orphanet:320396/e"} xref: Orphanet:320396 {source="DOID:0110797", source="MONDO:equivalentTo", source="OMIM:613162"} xref: SCTID:765753004 {source="MONDO:equivalentTo"} xref: UMLS:C2680447 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613162"} @@ -261530,12 +261414,12 @@ synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174] xref: DOID:0060174 {source="MONDO:equivalentTo"} xref: GARD:0000194 {source="MONDO:equivalentTo"} xref: HGNC:23 {source="GARD:0000194"} -xref: ICD10CM:E72.8 {source="Orphanet:2066", source="ORDO:2066/attributed", source="ORDO:2066/ntbt"} -xref: MESH:C535407 {source="Orphanet:2066", source="MONDO:equivalentTo", source="ORDO:2066/e"} -xref: OMIM:613163 {source="Orphanet:2066", source="MONDO:equivalentTo", source="DOID:0060174", source="ORDO:2066/e"} +xref: ICD10CM:E72.8 {source="Orphanet:2066", source="Orphanet:2066/attributed", source="Orphanet:2066/ntbt"} +xref: MESH:C535407 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e"} +xref: OMIM:613163 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e", source="DOID:0060174"} xref: Orphanet:2066 {source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163"} xref: SCTID:237941007 {source="MONDO:equivalentTo"} -xref: UMLS:C0342708 {source="Orphanet:2066", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163", source="ORDO:2066/e"} +xref: UMLS:C0342708 {source="Orphanet:2066", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2066/e", source="GARD:0000194", source="OMIM:613163"} is_a: MONDO:0000698 {source="DOID:0060174"} ! gamma-amino butyric acid metabolism disorder is_a: MONDO:0017684 {source="Orphanet:2066", source="linkedlifedata"} ! disorder of beta and omega amino acid metabolism is_a: MONDO:0019058 {source="Orphanet:2066"} ! neurometabolic disease @@ -261587,7 +261471,7 @@ synonym: "dup(5)(p13)" EXACT [Orphanet:329802] synonym: "trisomy 5p13" EXACT [DOID:0060460, Orphanet:329802] xref: DOID:0060460 {source="MONDO:equivalentTo"} xref: MESH:C567717 {source="MONDO:equivalentTo"} -xref: OMIM:613174 {source="ORDO:329802/e", source="Orphanet:329802", source="MONDO:equivalentTo", source="DOID:0060460"} +xref: OMIM:613174 {source="Orphanet:329802", source="MONDO:equivalentTo", source="Orphanet:329802/e", source="DOID:0060460"} xref: Orphanet:329802 {source="MONDO:equivalentTo", source="OMIM:613174", source="DOID:0060460"} xref: UMLS:C2750805 {source="Orphanet:329802", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613174"} is_a: MONDO:0000508 {source="Orphanet:329802"} ! syndromic intellectual disability @@ -261614,9 +261498,9 @@ synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [OMIM:613177] synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical, OMIM:613177] synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145] xref: DOID:0070139 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:221145", source="ORDO:221145/attributed", source="ORDO:221145/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:221145", source="Orphanet:221145/attributed", source="Orphanet:221145/ntbt"} xref: MESH:C567716 {source="MONDO:equivalentTo"} -xref: OMIM:613177 {source="Orphanet:221145", source="ORDO:221145/e", source="MONDO:equivalentTo", source="DOID:0070139"} +xref: OMIM:613177 {source="Orphanet:221145", source="MONDO:equivalentTo", source="DOID:0070139", source="Orphanet:221145/e"} xref: Orphanet:221145 {source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139"} xref: PMID:19836010 {source="DOID:0070139"} xref: UMLS:C2750804 {source="OMIM:613177", source="Orphanet:221145", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0070139"} @@ -261643,16 +261527,16 @@ synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C39 xref: DOID:5813 {source="MONDO:equivalentTo"} xref: GARD:0004606 {source="MONDO:equivalentTo"} xref: HGNC:7892 {source="GARD:0004606"} -xref: ICD10CM:D81.5 {source="DOID:5813", source="ORDO:760/specific", source="ORDO:760/e", source="Orphanet:760"} +xref: ICD10CM:D81.5 {source="Orphanet:760/e", source="Orphanet:760/specific", source="DOID:5813", source="Orphanet:760"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562587 {source="MONDO:equivalentTo", source="DOID:5813"} xref: NCIT:C3963 {source="MONDO:equivalentTo", source="DOID:5813"} -xref: OMIM:613179 {source="MONDO:equivalentTo", source="DOID:5813", source="ORDO:760/e", source="Orphanet:760"} +xref: OMIM:613179 {source="Orphanet:760/e", source="MONDO:equivalentTo", source="DOID:5813", source="Orphanet:760"} xref: Orphanet:760 {source="OMIM:613179", source="MONDO:equivalentTo"} xref: SCTID:124271005 {source="DOID:5813"} xref: SCTID:191000008 {source="DOID:5813"} xref: SCTID:60743005 {source="MONDO:equivalentTo", source="DOID:5813"} -xref: UMLS:C0268125 {source="OMIM:613179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:5813", source="NCIT:C3963", source="ORDO:760/e", source="Orphanet:760"} +xref: UMLS:C0268125 {source="Orphanet:760/e", source="OMIM:613179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:5813", source="NCIT:C3963", source="Orphanet:760"} is_a: MONDO:0018814 {source="Orphanet:760"} ! non-SCID combined immunodeficiency is_a: MONDO:0019236 {source="Orphanet:760"} ! inborn disorder of purine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7892 {source="mim2gene_medgen"} ! PNP @@ -261671,7 +261555,7 @@ synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED synonym: "cortical dysplasia, complex, with other brain malformations 8" RELATED [OMIM:613180] synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [OMIM:613180] xref: MESH:C567715 {source="MONDO:equivalentTo"} -xref: OMIM:613180 {source="MONDO:equivalentObsolete", source="Orphanet:250972", source="ORDO:250972/e"} +xref: OMIM:613180 {source="MONDO:equivalentObsolete", source="Orphanet:250972", source="Orphanet:250972/e"} xref: Orphanet:250972 {source="MONDO:equivalentTo", source="OMIM:613180"} xref: UMLS:C2750798 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:250972", source="OMIM:613180"} is_a: MONDO:0000904 {source="OMIM:613180"} ! complex cortical dysplasia with other brain malformations @@ -261760,9 +261644,9 @@ synonym: "ichthyosis-short stature-brachydactyly-microspherophakia syndrome" EXA synonym: "Weill-Marchesani syndrome 4" EXACT [OMIM:613195] synonym: "Weill-Marchesani-like syndrome" EXACT [OMIM:613195] synonym: "WMS4" EXACT ABBREVIATION [OMIM:613195] -xref: ICD10CM:Q93.5 {source="Orphanet:363992", source="ORDO:363992/attributed", source="ORDO:363992/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:363992/attributed", source="Orphanet:363992/ntbt", source="Orphanet:363992"} xref: MESH:C567710 {source="MONDO:equivalentTo"} -xref: OMIM:613195 {source="ORDO:363992/e", source="Orphanet:363992", source="MONDO:equivalentTo"} +xref: OMIM:613195 {source="Orphanet:363992", source="MONDO:equivalentTo", source="Orphanet:363992/e"} xref: Orphanet:363992 {source="MONDO:equivalentTo", source="OMIM:613195"} xref: UMLS:C2750787 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613195"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome @@ -261785,9 +261669,9 @@ synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204] xref: DOID:0110639 {source="MONDO:equivalentTo"} xref: GARD:0012587 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:34520/attributed", source="ORDO:34520/ntbt", source="DOID:0110639", source="Orphanet:34520"} +xref: ICD10CM:G71.2 {source="DOID:0110639", source="Orphanet:34520/attributed", source="Orphanet:34520/ntbt", source="Orphanet:34520"} xref: MESH:C567709 {source="MONDO:equivalentTo"} -xref: OMIM:613204 {source="DOID:0110639", source="MONDO:equivalentTo", source="ORDO:34520/e", source="Orphanet:34520"} +xref: OMIM:613204 {source="Orphanet:34520/e", source="DOID:0110639", source="MONDO:equivalentTo", source="Orphanet:34520"} xref: Orphanet:34520 {source="OMIM:613204", source="DOID:0110639", source="MONDO:equivalentTo"} xref: UMLS:C2750786 {source="OMIM:613204", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:34520"} is_a: MONDO:0016150 {source="Orphanet:34520"} ! qualitative or quantitative defects of integrin alpha-7 @@ -261816,10 +261700,10 @@ synonym: "muscular dystrophy, congenital" EXACT [OMIM:613205, OMIM:genemap2] synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585, OMIM:613205] xref: DOID:0110640 {source="MONDO:equivalentTo"} xref: GARD:0012585 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:157973", source="ORDO:157973/attributed", source="ORDO:157973/ntbt", source="DOID:0110640"} +xref: ICD10CM:G71.2 {source="Orphanet:157973/attributed", source="Orphanet:157973/ntbt", source="Orphanet:157973", source="DOID:0110640"} xref: MESH:C567708 {source="MONDO:equivalentTo"} xref: NCIT:C148369 {source="MONDO:equivalentTo"} -xref: OMIM:613205 {source="ORDO:157973/e", source="Orphanet:157973", source="MONDO:equivalentTo", source="DOID:0110640"} +xref: OMIM:613205 {source="Orphanet:157973", source="MONDO:equivalentTo", source="Orphanet:157973/e", source="DOID:0110640"} xref: Orphanet:157973 {source="MONDO:equivalentTo", source="OMIM:613205", source="DOID:0110640"} xref: UMLS:C2750785 {source="NCBI:mim2gene_medline", source="Orphanet:157973", source="MONDO:equivalentTo", source="OMIM:613205"} is_a: MONDO:0019950 {source="DOID:0110640", source="MONDO:Redundant", source="Orphanet:157973"} ! congenital muscular dystrophy @@ -261845,12 +261729,12 @@ synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE: synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206] synonym: "SPG44" EXACT ABBREVIATION [DOID:0110796, MONDO:Lexical, OMIM:613206, Orphanet:320401] xref: DOID:0110796 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320401/attributed", source="ORDO:320401/ntbt", source="Orphanet:320401", source="DOID:0110796"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320401", source="DOID:0110796", source="Orphanet:320401/attributed", source="Orphanet:320401/ntbt"} xref: MESH:C567707 {source="MONDO:equivalentTo"} -xref: OMIM:613206 {source="ORDO:320401/e", source="MONDO:equivalentTo", source="Orphanet:320401", source="DOID:0110796"} +xref: OMIM:613206 {source="MONDO:equivalentTo", source="Orphanet:320401", source="Orphanet:320401/e", source="DOID:0110796"} xref: Orphanet:320401 {source="MONDO:equivalentTo", source="OMIM:613206", source="DOID:0110796"} xref: SCTID:723821002 {source="MONDO:equivalentTo"} -xref: UMLS:C2750784 {source="ORDO:320401/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613206", source="Orphanet:320401"} +xref: UMLS:C2750784 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613206", source="Orphanet:320401", source="Orphanet:320401/e"} is_a: MONDO:0015089 {source="MONDO:Redundant", source="Orphanet:320401"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110796", source="MESH:C567707", source="MONDO:Redundant", source="OMIM:613206", source="Orphanet:320401/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia @@ -261890,7 +261774,7 @@ xref: OMIM:613211 {source="MONDO:equivalentTo", source="DOID:0110061"} xref: Orphanet:100033 {source="MONDO:subClassOf", source="OMIM:613211"} xref: UMLS:C2750771 {source="OMIM:613211", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110061", source="MESH:C567706", source="MONDO:Redundant", source="OMIM:613211", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26790 ! WDR72 @@ -261911,7 +261795,7 @@ synonym: "dup(17)(p13.3)" EXACT [Orphanet:217385] synonym: "trisomy 17p13.3" EXACT [DOID:0060432, Orphanet:217385] xref: DOID:0060432 {source="MONDO:equivalentTo"} xref: MESH:C567705 {source="MONDO:equivalentTo"} -xref: OMIM:613215 {source="DOID:0060432", source="MONDO:equivalentTo", source="ORDO:217385/e", source="Orphanet:217385"} +xref: OMIM:613215 {source="Orphanet:217385/e", source="DOID:0060432", source="MONDO:equivalentTo", source="Orphanet:217385"} xref: Orphanet:217385 {source="OMIM:613215", source="DOID:0060432", source="MONDO:equivalentTo"} xref: SCTID:719582007 {source="MONDO:equivalentTo"} xref: UMLS:C2750748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:217385"} @@ -261971,9 +261855,9 @@ synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pa synonym: "tufting enteropathy" EXACT [DOID:0060776] xref: DOID:0060776 {source="MONDO:equivalentTo"} xref: GARD:0010630 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:P78.3 {source="ORDO:92050/attributed", source="ORDO:92050/ntbt", source="DOID:0060776", source="Orphanet:92050"} +xref: ICD10CM:P78.3 {source="DOID:0060776", source="Orphanet:92050/attributed", source="Orphanet:92050/ntbt", source="Orphanet:92050"} xref: MESH:C567703 {source="MONDO:equivalentTo"} -xref: OMIM:613217 {source="DOID:0060776", source="MONDO:equivalentTo", source="ORDO:92050/e", source="Orphanet:92050"} +xref: OMIM:613217 {source="Orphanet:92050/e", source="DOID:0060776", source="MONDO:equivalentTo", source="Orphanet:92050"} xref: Orphanet:92050 {source="DOID:0060776", source="MONDO:equivalentTo", source="OMIM:613217"} xref: SCTID:715669000 {source="MONDO:equivalentTo"} xref: UMLS:C2750737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613217"} @@ -262048,7 +261932,7 @@ xref: Orphanet:331 {source="MONDO:subClassOf", source="OMIM:613225"} xref: SCTID:439455002 {source="MONDO:equivalentTo"} xref: UMLS:C2584877 {source="MONDO:equivalentTo"} xref: UMLS:C2750514 {source="NCBI:mim2gene_medline", source="OMIM:613225", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018029 {source="MESH:C567691", source="ORDO:331/btnt", source="linkedlifedata"} ! congenital factor XIII deficiency +is_a: MONDO:0018029 {source="MESH:C567691", source="Orphanet:331/btnt", source="linkedlifedata"} ! congenital factor XIII deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3531 {source="mim2gene_medgen"} ! F13A1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "29.33333333333344" xsd:double @@ -262070,7 +261954,7 @@ xref: MESH:C567690 {source="MONDO:equivalentTo"} xref: OMIM:613227 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:subClassOf", source="OMIM:613227"} xref: UMLS:C2750509 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613227"} -is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:613227", source="ORDO:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium +is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:613227", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1382 ! CA8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1382 {source="mim2gene_medgen"} ! CA8 @@ -262106,7 +261990,7 @@ xref: MESH:C567688 {source="MONDO:equivalentTo"} xref: OMIM:613235 {source="MONDO:equivalentTo"} xref: Orphanet:331 {source="MONDO:subClassOf", source="OMIM:613235"} xref: UMLS:C2750481 {source="OMIM:613235", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018029 {source="MESH:C567688", source="ORDO:331/btnt"} ! congenital factor XIII deficiency +is_a: MONDO:0018029 {source="MESH:C567688", source="Orphanet:331/btnt"} ! congenital factor XIII deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3534 {source="mim2gene_medgen"} ! F13B relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "29.33333333333344" xsd:double @@ -262282,7 +262166,7 @@ xref: Orphanet:805 {source="MONDO:subClassOf", source="OMIM:613254"} xref: UMLS:C1860707 {source="OMIM:613254", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C75331"} xref: UMLS:C2750460 {source="OMIM:613254", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001734 {source="DC-OMIM:613254", source="NCIT:C75331", source="OMIM:613254"} ! tuberous sclerosis -relationship: excluded_subClassOf MONDO:0019341 {source="ORDO:805/btnt"} ! tuberous sclerosis complex +relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt"} ! tuberous sclerosis complex relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:613254"} ! Autosomal dominant inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.1527777777777777" xsd:double @@ -262456,10 +262340,10 @@ xref: DOID:0080536 {source="MONDO:equivalentTo"} xref: GARD:0010706 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C548016 {source="MONDO:equivalentTo"} -xref: OMIM:613280 {source="MONDO:equivalentTo", source="Orphanet:309854", source="ORDO:309854/e"} +xref: OMIM:613280 {source="Orphanet:309854/e", source="MONDO:equivalentTo", source="Orphanet:309854"} xref: Orphanet:309854 {source="MONDO:equivalentTo", source="OMIM:613280"} xref: SCTID:702377007 {source="MONDO:equivalentTo"} -xref: UMLS:C2750442 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613280", source="Orphanet:309854", source="ORDO:309854/e"} +xref: UMLS:C2750442 {source="Orphanet:309854/e", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613280", source="Orphanet:309854"} xref: UMLS:CN035550 {source="MONDO:equivalentTo"} is_a: MONDO:0000214 {source="DC-OMIM:613280", source="OMIM:613280"} ! hypermanganesemia with dystonia is_a: MONDO:0005066 {source="Orphanet:309854"} ! metabolic disease @@ -262508,8 +262392,7 @@ synonym: "autosomal recessive deafness 25" NARROW [DOID:0110483] synonym: "autosomal recessive nonsyndromic deafness 25" NARROW CLINGEN_PREFERRED [OMIM:613285] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 25" NARROW [DOID:0110483, MONDORULE:2] -synonym: "deafness, autosomal recessive 25" NARROW [MONDO:Lexical, OMIM:613285] -synonym: "deafness, autosomal recessive 25" NARROW [OMIM:613285, OMIM:genemap2] +synonym: "deafness, autosomal recessive 25" NARROW [MONDO:Lexical, OMIM:613285, OMIM:genemap2] synonym: "deafness, autosomal recessive type 25" NARROW [MONDORULE:2, OMIM:613285] synonym: "DFNB25" NARROW ABBREVIATION [DOID:0110483, MONDO:Lexical, OMIM:613285] synonym: "GRXCR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -262561,9 +262444,9 @@ synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [OMIM:613287] synonym: "CMT2N" EXACT ABBREVIATION [DOID:0110177, MONDO:Lexical, OMIM:613287, Orphanet:228174] xref: DOID:0110177 {source="MONDO:equivalentTo"} xref: GARD:0012429 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:228174/attributed", source="ORDO:228174/ntbt", source="Orphanet:228174", source="DOID:0110177"} +xref: ICD10CM:G60.0 {source="Orphanet:228174", source="Orphanet:228174/attributed", source="Orphanet:228174/ntbt", source="DOID:0110177"} xref: MESH:C567653 {source="MONDO:equivalentTo"} -xref: OMIM:613287 {source="MONDO:equivalentTo", source="ORDO:228174/e", source="Orphanet:228174", source="DOID:0110177"} +xref: OMIM:613287 {source="MONDO:equivalentTo", source="Orphanet:228174", source="DOID:0110177", source="Orphanet:228174/e"} xref: Orphanet:228174 {source="OMIM:613287", source="MONDO:equivalentTo", source="DOID:0110177"} xref: SCTID:719515001 {source="MONDO:equivalentTo"} xref: UMLS:C2750090 {source="OMIM:613287", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:228174"} @@ -262609,8 +262492,7 @@ synonym: "autosomal recessive deafness 79" NARROW [DOID:0110526] synonym: "autosomal recessive nonsyndromic deafness 79" NARROW CLINGEN_PREFERRED [OMIM:613307] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TPRN" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 79" NARROW [DOID:0110526, MONDORULE:2] -synonym: "deafness, autosomal recessive 79" NARROW [OMIM:613307, OMIM:genemap2] -synonym: "deafness, autosomal recessive 79" NARROW [MONDO:Lexical, OMIM:613307] +synonym: "deafness, autosomal recessive 79" NARROW [MONDO:Lexical, OMIM:613307, OMIM:genemap2] synonym: "deafness, autosomal recessive type 79" NARROW [MONDORULE:2, OMIM:613307] synonym: "DFNB79" NARROW ABBREVIATION [DOID:0110526, MONDO:Lexical, OMIM:613307] synonym: "TPRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -262697,7 +262579,7 @@ xref: OMIM:613312 {source="MONDO:equivalentTo"} xref: Orphanet:289176 {source="MONDO:subClassOf", source="OMIM:613312"} xref: UMLS:C2750078 {source="OMIM:613312", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000044 {source="MONDO:0013219/inferred", source="MONDO:Redundant", source="OMIM:613312", source="indirect"} ! hereditary hypophosphatemic rickets -is_a: MONDO:0017324 {source="MONDO:Redundant", source="ORDO:289176/btnt"} ! autosomal recessive hypophosphatemic rickets +is_a: MONDO:0017324 {source="MONDO:Redundant", source="Orphanet:289176/btnt"} ! autosomal recessive hypophosphatemic rickets intersection_of: MONDO:0017324 ! autosomal recessive hypophosphatemic rickets intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3356 ! ENPP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3356 {source="mim2gene_medgen"} ! ENPP1 @@ -262736,7 +262618,7 @@ xref: MESH:C567646 {source="MONDO:equivalentTo"} xref: OMIM:613318 {source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="MONDO:subClassOf", source="OMIM:613318"} xref: UMLS:C2750077 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613318"} -is_a: MONDO:0009685 {source="ORDO:45448/btnt"} ! Miyoshi myopathy +is_a: MONDO:0009685 {source="Orphanet:45448/btnt"} ! Miyoshi myopathy is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:613318", source="indirect"} ! distal myopathy property_value: confidence "2.4105263157894736" xsd:double @@ -262750,9 +262632,9 @@ synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, OMIM:613319, Or synonym: "Miyoshi myopathy 3" RELATED [OMIM:613319] synonym: "MMD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613319, Orphanet:399096] xref: DOID:0070201 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:399096/attributed", source="ORDO:399096/ntbt", source="Orphanet:399096"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399096/attributed", source="Orphanet:399096/ntbt", source="Orphanet:399096"} xref: MESH:C567645 {source="MONDO:equivalentTo"} -xref: OMIM:613319 {source="MONDO:equivalentTo", source="ORDO:399096/e", source="Orphanet:399096"} +xref: OMIM:613319 {source="Orphanet:399096/e", source="MONDO:equivalentTo", source="Orphanet:399096"} xref: Orphanet:399096 {source="MONDO:equivalentTo", source="OMIM:613319"} xref: UMLS:C2750076 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613319", source="Orphanet:399096"} is_a: MONDO:0009685 {source="OMIM:613319"} ! Miyoshi myopathy @@ -262773,9 +262655,9 @@ synonym: "SMDMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613320] synonym: "spondylodysplastic dysplasia caused by mutation in PAM16" EXACT [] synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" EXACT [OMIM:613320, OMIM:genemap2] synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical, OMIM:613320] -xref: ICD10CM:Q77.8 {source="ORDO:401979/attributed", source="ORDO:401979/ntbt", source="Orphanet:401979"} +xref: ICD10CM:Q77.8 {source="Orphanet:401979", source="Orphanet:401979/attributed", source="Orphanet:401979/ntbt"} xref: MESH:C567644 {source="MONDO:equivalentTo"} -xref: OMIM:613320 {source="MONDO:equivalentTo", source="ORDO:401979/e", source="Orphanet:401979"} +xref: OMIM:613320 {source="MONDO:equivalentTo", source="Orphanet:401979", source="Orphanet:401979/e"} xref: Orphanet:401979 {source="OMIM:613320", source="MONDO:equivalentTo"} xref: UMLS:C2750075 {source="OMIM:613320", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:401979"} is_a: MONDO:0016763 {source="OMIM:613320"} ! spondylometaphyseal dysplasia @@ -262800,7 +262682,7 @@ xref: OMIM:613325 {source="MONDO:equivalentTo"} xref: Orphanet:231108 {source="MONDO:subClassOf", source="OMIM:613325"} xref: Orphanet:69077 {source="MONDO:subClassOf", source="OMIM:613325"} xref: UMLS:C2750074 {source="OMIM:613325", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:613325", source="ORDO:231108/btnt"} ! familial rhabdoid tumor +is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:613325", source="Orphanet:231108/btnt"} ! familial rhabdoid tumor is_a: MONDO:0020560 {source="DC-OMIM:613325"} ! atypical teratoid rhabdoid tumor intersection_of: MONDO:0016473 ! familial rhabdoid tumor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11100 ! SMARCA4 @@ -262826,9 +262708,9 @@ synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dys synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical, OMIM:613327] xref: DOID:0111138 {source="MONDO:equivalentTo"} xref: GARD:0010937 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.1 {source="DOID:0111138", source="Orphanet:228429", source="ORDO:228429/attributed", source="ORDO:228429/ntbt"} +xref: ICD10CM:E88.1 {source="DOID:0111138", source="Orphanet:228429/attributed", source="Orphanet:228429/ntbt", source="Orphanet:228429"} xref: MESH:C567642 {source="MONDO:equivalentTo"} -xref: OMIM:613327 {source="DOID:0111138", source="Orphanet:228429", source="ORDO:228429/e", source="MONDO:equivalentTo"} +xref: OMIM:613327 {source="DOID:0111138", source="Orphanet:228429", source="MONDO:equivalentTo", source="Orphanet:228429/e"} xref: Orphanet:228429 {source="DOID:0111138", source="MONDO:equivalentTo", source="OMIM:613327"} xref: UMLS:C2750069 {source="Orphanet:228429", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613327"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus @@ -262852,9 +262734,9 @@ synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, sk synonym: "ROIFMAN-Chitayat syndrome" RELATED [OMIM:613328] synonym: "Roifman-Chitayat syndrome" EXACT [Orphanet:221139] synonym: "Roifman-Chitayat syndrome, digenic" EXACT [OMIM:613328, OMIM:genemap2] -xref: ICD10CM:Q87.8 {source="ORDO:221139/attributed", source="ORDO:221139/ntbt", source="Orphanet:221139"} +xref: ICD10CM:Q87.8 {source="Orphanet:221139", source="Orphanet:221139/attributed", source="Orphanet:221139/ntbt"} xref: MESH:C567641 {source="MONDO:equivalentTo"} -xref: OMIM:613328 {source="MONDO:equivalentTo", source="ORDO:221139/e", source="Orphanet:221139"} +xref: OMIM:613328 {source="MONDO:equivalentTo", source="Orphanet:221139", source="Orphanet:221139/e"} xref: Orphanet:221139 {source="MONDO:equivalentTo", source="OMIM:613328"} xref: UMLS:C2750068 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613328", source="Orphanet:221139"} is_a: MONDO:0015160 {source="Orphanet:221139", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -262876,10 +262758,10 @@ synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [OMIM:613329] synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:0004381] synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329] xref: GARD:0004381 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D68.8 {source="ORDO:465/attributed", source="ORDO:465/ntbt", source="Orphanet:465"} +xref: ICD10CM:D68.8 {source="Orphanet:465/attributed", source="Orphanet:465/ntbt", source="Orphanet:465"} xref: MESH:C567640 {source="MONDO:equivalentTo"} xref: NCIT:C133884 {source="MONDO:equivalentTo"} -xref: OMIM:613329 {source="MONDO:equivalentTo", source="ORDO:465/e", source="Orphanet:465"} +xref: OMIM:613329 {source="Orphanet:465/e", source="MONDO:equivalentTo", source="Orphanet:465"} xref: Orphanet:465 {source="MONDO:equivalentTo", source="OMIM:613329"} xref: SCTID:717407006 {source="MONDO:equivalentTo"} xref: UMLS:C2750067 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613329", source="NCIT:C133884", source="Orphanet:465"} @@ -262897,9 +262779,9 @@ name: spondylo-megaepiphyseal-metaphyseal dysplasia subset: ordo_disease {source="Orphanet:228387"} synonym: "SMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613330] synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613330] -xref: ICD10CM:Q77.7 {source="ORDO:228387/attributed", source="ORDO:228387/ntbt", source="Orphanet:228387"} +xref: ICD10CM:Q77.7 {source="Orphanet:228387/attributed", source="Orphanet:228387/ntbt", source="Orphanet:228387"} xref: MESH:C567639 {source="MONDO:equivalentTo"} -xref: OMIM:613330 {source="MONDO:equivalentTo", source="ORDO:228387/e", source="Orphanet:228387"} +xref: OMIM:613330 {source="Orphanet:228387/e", source="MONDO:equivalentTo", source="Orphanet:228387"} xref: Orphanet:228387 {source="MONDO:equivalentTo", source="OMIM:613330"} xref: UMLS:C2750066 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:228387", source="OMIM:613330"} is_a: MONDO:0016761 {source="Orphanet:228387"} ! spondyloepiphyseal dysplasia @@ -262916,10 +262798,10 @@ synonym: "bathing epilepsy" RELATED [OMIM:613339] synonym: "epilepsy, hot water" EXACT [MONDO:0000028] synonym: "hot water epilepsy" EXACT [OMIMPS:613339] synonym: "water immersion epilepsy" RELATED [OMIM:613339] -xref: ICD10CM:G40.8 {source="ORDO:166412/ntbt", source="Orphanet:166412"} +xref: ICD10CM:G40.8 {source="Orphanet:166412", source="Orphanet:166412/ntbt"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:613339 {source="ORDO:166412/e", source="MONDO:superClassOf", source="Orphanet:166412"} -xref: OMIM:613340 {source="MONDO:superClassOf", source="ORDO:166412/btnt", source="Orphanet:166412"} +xref: OMIM:613339 {source="MONDO:superClassOf", source="Orphanet:166412", source="Orphanet:166412/e"} +xref: OMIM:613340 {source="MONDO:superClassOf", source="Orphanet:166412", source="Orphanet:166412/btnt"} xref: OMIMPS:613339 {source="MONDO:equivalentTo"} xref: Orphanet:166412 {source="MONDO:equivalentTo", source="OMIM:613339"} xref: SCTID:230454005 {source="MONDO:equivalentTo"} @@ -262936,7 +262818,7 @@ synonym: "HWE2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613340] xref: OMIM:613340 {source="MONDO:equivalentTo"} xref: Orphanet:166412 {source="MONDO:subClassOf", source="OMIM:613340"} xref: UMLS:C3150536 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613340"} -is_a: MONDO:0013229 {source="OMIM:613340", source="ORDO:166412/btnt"} ! hot water reflex epilepsy +is_a: MONDO:0013229 {source="OMIM:613340", source="Orphanet:166412/btnt"} ! hot water reflex epilepsy property_value: confidence "1.6470588235294117" xsd:double [Term] @@ -262981,12 +262863,12 @@ synonym: "brachydactylous dwarfs of Mseleni" RELATED [GARD:0000960] synonym: "Mseleni JOINT disease" RELATED [OMIM:613342] synonym: "Mseleni joint disease" EXACT [Orphanet:2619] xref: GARD:0000960 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:2619/attributed", source="ORDO:2619/ntbt", source="Orphanet:2619"} -xref: MESH:C537086 {source="MONDO:equivalentTo", source="ORDO:2619/e", source="Orphanet:2619"} -xref: OMIM:613342 {source="MONDO:equivalentTo", source="ORDO:2619/e", source="Orphanet:2619"} +xref: ICD10CM:Q77.7 {source="Orphanet:2619/attributed", source="Orphanet:2619/ntbt", source="Orphanet:2619"} +xref: MESH:C537086 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} +xref: OMIM:613342 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: Orphanet:2619 {source="OMIM:613342", source="MONDO:equivalentTo"} xref: SCTID:715470008 {source="MONDO:equivalentTo"} -xref: UMLS:C2931420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2619/e", source="Orphanet:2619"} +xref: UMLS:C2931420 {source="NCBI:mim2gene_medline", source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: UMLS:C3150544 {source="OMIM:613342", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016761 {source="Orphanet:2619"} ! spondyloepiphyseal dysplasia property_value: confidence "3.0625" xsd:double @@ -262999,8 +262881,8 @@ subset: ordo_disease {source="Orphanet:99642"} synonym: "Handigodu JOINT disease" RELATED [OMIM:613343] synonym: "Hjd" RELATED [OMIM:613343] synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343] -xref: ICD10CM:Q77.7 {source="Orphanet:99642", source="ORDO:99642/attributed", source="ORDO:99642/ntbt"} -xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="ORDO:99642/e"} +xref: ICD10CM:Q77.7 {source="Orphanet:99642", source="Orphanet:99642/attributed", source="Orphanet:99642/ntbt"} +xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="Orphanet:99642/e"} xref: Orphanet:99642 {source="OMIM:613343", source="MONDO:equivalentTo"} xref: UMLS:C3150545 {source="OMIM:613343", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:99642"} ! spondyloepiphyseal dysplasia @@ -263015,7 +262897,7 @@ xref: MESH:C567635 {source="MONDO:equivalentTo"} xref: OMIM:613345 {source="MONDO:equivalentTo"} xref: Orphanet:681 {source="MONDO:subClassOf", source="OMIM:613345"} xref: UMLS:C2750061 {source="OMIM:613345", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008223 {source="MESH:C567635", source="ORDO:681/btnt"} ! hypokalemic periodic paralysis +is_a: MONDO:0008223 {source="MESH:C567635", source="Orphanet:681/btnt"} ! hypokalemic periodic paralysis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10591 {source="mim2gene_medgen"} ! SCN4A property_value: confidence "0.47058823529411753" xsd:double @@ -263036,7 +262918,7 @@ xref: Orphanet:1333 {source="MONDO:subClassOf", source="OMIM:613347"} xref: UMLS:C3150546 {source="OMIM:613347", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020573 {source="OMIM:613347"} ! inherited disease susceptibility relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1101 {source="OMIM:613347", source="mim2gene_medgen"} ! BRCA2 -relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="ORDO:1333/btnt"} ! familial pancreatic carcinoma +relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt"} ! familial pancreatic carcinoma relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.423076923076922" xsd:double @@ -263057,7 +262939,7 @@ xref: Orphanet:1333 {source="MONDO:subClassOf", source="OMIM:613348"} xref: UMLS:C3150547 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613348"} is_a: MONDO:0020573 {source="OMIM:613348"} ! inherited disease susceptibility relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26144 {source="OMIM:613348", source="mim2gene_medgen"} ! PALB2 -relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="ORDO:1333/btnt"} ! familial pancreatic carcinoma +relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt"} ! familial pancreatic carcinoma relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm property_value: confidence "2.423076923076922" xsd:double @@ -263088,8 +262970,8 @@ synonym: "monosomy 17q23.1-q23.2" EXACT [Orphanet:261279] synonym: "monosomy 17q23.1q23.2" EXACT [Orphanet:261279] xref: DOID:0060405 {source="MONDO:equivalentTo"} xref: GARD:0010936 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:261279/attributed", source="ORDO:261279/ntbt", source="Orphanet:261279", source="DOID:0060405"} -xref: OMIM:613355 {source="MONDO:equivalentTo", source="Orphanet:261279", source="ORDO:261279/e", source="DOID:0060405"} +xref: ICD10CM:Q93.5 {source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/attributed", source="Orphanet:261279/ntbt"} +xref: OMIM:613355 {source="MONDO:equivalentTo", source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/e"} xref: Orphanet:261279 {source="OMIM:613355", source="MONDO:equivalentTo", source="DOID:0060405"} xref: SCTID:719584008 {source="MONDO:equivalentTo"} xref: UMLS:C3150607 {source="OMIM:613355", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -263114,8 +262996,8 @@ synonym: "hereditary spastic paraplegia type 41" EXACT [DOID:0110793, MONDORULE: synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613364] synonym: "SPG41" EXACT ABBREVIATION [DOID:0110793, MONDO:Lexical, OMIM:613364, Orphanet:320355] xref: DOID:0110793 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320355", source="ORDO:320355/attributed", source="ORDO:320355/ntbt", source="DOID:0110793"} -xref: OMIM:613364 {source="ORDO:320355/e", source="Orphanet:320355", source="MONDO:equivalentTo", source="DOID:0110793"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320355/attributed", source="Orphanet:320355/ntbt", source="Orphanet:320355", source="DOID:0110793"} +xref: OMIM:613364 {source="Orphanet:320355", source="MONDO:equivalentTo", source="Orphanet:320355/e", source="DOID:0110793"} xref: Orphanet:320355 {source="OMIM:613364", source="MONDO:equivalentTo", source="DOID:0110793"} xref: SCTID:763069002 {source="MONDO:equivalentTo"} xref: UMLS:C2680445 {source="OMIM:613364", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -263153,13 +263035,13 @@ synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical, OMIM:613371] synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950] xref: DOID:0050979 {source="MONDO:equivalentTo"} xref: GARD:0004950 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.2 {source="ORDO:211017/attributed", source="ORDO:211017/ntbt", source="Orphanet:211017"} -xref: MESH:C537206 {source="MONDO:relatedTo", source="ORDO:211017/e", source="Orphanet:211017"} +xref: ICD10CM:G11.2 {source="Orphanet:211017", source="Orphanet:211017/attributed", source="Orphanet:211017/ntbt"} +xref: MESH:C537206 {source="MONDO:relatedTo", source="Orphanet:211017", source="Orphanet:211017/e"} xref: MESH:C575214 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"} -xref: OMIM:613371 {source="ORDO:211017/e", source="MONDO:equivalentTo", source="Orphanet:211017", source="DOID:0050979"} +xref: OMIM:613371 {source="MONDO:equivalentTo", source="Orphanet:211017", source="DOID:0050979", source="Orphanet:211017/e"} xref: Orphanet:211017 {source="MONDO:equivalentTo", source="OMIM:613371"} xref: SCTID:719253007 {source="MONDO:equivalentTo"} -xref: UMLS:C2936793 {source="GARD:0004950", source="ORDO:211017/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:211017", source="OMIM:613371"} +xref: UMLS:C2936793 {source="GARD:0004950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:211017", source="OMIM:613371", source="Orphanet:211017/e"} xref: UMLS:C4304845 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019793 {source="Orphanet:211017"} ! autosomal dominant cerebellar ataxia type III property_value: confidence "2.2500000000000004" xsd:double @@ -263198,7 +263080,7 @@ xref: OMIM:613376 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="MONDO:subClassOf", source="OMIM:613376"} xref: UMLS:C3150619 {source="OMIM:613376", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000075 {source="DC-OMIM:613376", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor -is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2 +is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2 intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5248 ! HSPB3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5248 {source="mim2gene_medgen"} ! HSPB3 @@ -263217,7 +263099,7 @@ xref: DOID:0110976 {source="MONDO:equivalentTo"} xref: OMIM:613382 {source="DOID:0110976", source="MONDO:equivalentTo"} xref: Orphanet:93387 {source="MONDO:subClassOf", source="OMIM:613382"} xref: UMLS:C3150644 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613382"} -is_a: MONDO:0019677 {source="MONDO:Redundant", source="ORDO:93387/btnt"} ! brachydactyly type E +is_a: MONDO:0019677 {source="MONDO:Redundant", source="Orphanet:93387/btnt"} ! brachydactyly type E intersection_of: MONDO:0019677 ! brachydactyly type E intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9607 ! PTHLH relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9607 {source="mim2gene_medgen"} ! PTHLH @@ -263235,7 +263117,7 @@ synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT CLINGEN_PREFERRED [] xref: GARD:0010775 {source="MONDO:equivalentTo"} -xref: OMIM:613385 {source="ORDO:228426/e", source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo"} +xref: OMIM:613385 {source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo", source="Orphanet:228426/e"} xref: Orphanet:228426 {source="MONDO:equivalentTo", source="OMIM:613385"} xref: UMLS:C3150649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613385"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:228426", source="indirect"} ! syndromic intellectual disability @@ -263272,7 +263154,7 @@ synonym: "SLC34A1 Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/ xref: OMIM:613388 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="MONDO:subClassOf", source="OMIM:613388"} xref: UMLS:C3150652 {source="OMIM:613388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007600 {source="ORDO:3337/btnt"} ! primary Fanconi syndrome +is_a: MONDO:0007600 {source="Orphanet:3337/btnt"} ! primary Fanconi syndrome is_a: MONDO:0100238 {source="MONDO:Redundant", source="OMIM:613388", source="indirect"} ! inherited Fanconi renotubular syndrome intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11019 ! SLC34A1 @@ -263335,8 +263217,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 85" NARROW [DOID:0110531] synonym: "autosomal recessive nonsyndromic deafness 85" NARROW [OMIM:613392] synonym: "autosomal recessive nonsyndromic deafness type 85" NARROW [DOID:0110531, MONDORULE:2] -synonym: "deafness, autosomal recessive 85" NARROW [OMIM:613392, OMIM:genemap2] -synonym: "deafness, autosomal recessive 85" NARROW [MONDO:Lexical, OMIM:613392] +synonym: "deafness, autosomal recessive 85" NARROW [MONDO:Lexical, OMIM:613392, OMIM:genemap2] synonym: "DFNB85" NARROW ABBREVIATION [DOID:0110531, MONDO:Lexical, OMIM:613392] xref: DOID:0110531 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110531"} @@ -263349,7 +263230,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 [Term] id: MONDO:0013251 name: Birbeck granule deficiency -synonym: "Birbeck granule deficiency" EXACT [OMIM:613393] synonym: "Birbeck granule deficiency" EXACT [OMIM:613393, OMIM:genemap2] synonym: "Birbeck granules, absence of" RELATED [OMIM:613393] xref: OMIM:613393 {source="MONDO:equivalentTo"} @@ -263368,7 +263248,7 @@ synonym: "WARSAW breakage syndrome" RELATED [OMIM:613398] synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398] xref: DOID:0060535 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="DOID:0060535", source="ORDO:280558/e"} +xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="Orphanet:280558/e", source="DOID:0060535"} xref: Orphanet:280558 {source="OMIM:613398", source="MONDO:equivalentTo", source="DOID:0060535"} xref: SCTID:702829000 {source="MONDO:equivalentTo"} xref: UMLS:C3150658 {source="OMIM:613398", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -263400,7 +263280,7 @@ xref: Orphanet:227535 {source="MONDO:subClassOf", source="OMIM:613399", source=" xref: UMLS:C3150659 {source="OMIM:613399", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3150660 {source="OMIM:613399", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3150661 {source="OMIM:613399", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003582 {source="DC-OMIM:613399", source="MONDO:Redundant", source="OMIM:613399", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome +is_a: MONDO:0003582 {source="DC-OMIM:613399", source="MONDO:Redundant", source="OMIM:613399", source="Orphanet:145/btnt"} ! hereditary breast ovarian cancer syndrome is_a: MONDO:0020573 {source="OMIM:613399"} ! inherited disease susceptibility intersection_of: MONDO:0003582 ! hereditary breast ovarian cancer syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9820 ! RAD51C @@ -263442,7 +263322,7 @@ xref: DOID:0111354 {source="MONDO:equivalentTo"} xref: OMIM:613404 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="MONDO:subClassOf", source="OMIM:613404"} xref: UMLS:C3150672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613404"} -is_a: MONDO:0017123 {source="DC-OMIM:613404", source="MONDO:Redundant", source="OMIM:613404", source="ORDO:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome +is_a: MONDO:0017123 {source="DC-OMIM:613404", source="MONDO:Redundant", source="OMIM:613404", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20347 ! VIPAS39 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20347 {source="mim2gene_medgen"} ! VIPAS39 @@ -263462,9 +263342,9 @@ synonym: "WITKOS" RELATED ABBREVIATION [OMIM:613406] synonym: "Witteveen-Kolk syndrome" RELATED [OMIM:613406] xref: DOID:0060395 {source="MONDO:equivalentTo"} xref: GARD:0012219 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="DOID:0060395", source="Orphanet:94065", source="ORDO:94065/attributed", source="ORDO:94065/ntbt"} +xref: ICD10CM:Q93.5 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/attributed", source="Orphanet:94065/ntbt"} xref: MESH:C579849 {source="DOID:0060395", source="MONDO:equivalentTo"} -xref: OMIM:613406 {source="DOID:0060395", source="Orphanet:94065", source="MONDO:equivalentTo", source="ORDO:94065/ntbt"} +xref: OMIM:613406 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:94065 {source="DOID:0060395", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:613406"} xref: SCTID:699308002 {source="MONDO:equivalentTo"} xref: UMLS:C3150674 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613406"} @@ -263532,7 +263412,7 @@ xref: OMIM:613411 {source="DOID:0110713", source="MONDO:equivalentTo"} xref: Orphanet:75382 {source="MONDO:subClassOf", source="OMIM:613411"} xref: UMLS:C3150678 {source="OMIM:613411", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016293 {source="DC-OMIM:613411", source="OMIM:613411", source="indirect"} ! congenital stationary night blindness -is_a: MONDO:0019152 {source="MONDO:Redundant", source="ORDO:75382/btnt"} ! Oguchi disease +is_a: MONDO:0019152 {source="MONDO:Redundant", source="Orphanet:75382/btnt"} ! Oguchi disease intersection_of: MONDO:0019152 ! Oguchi disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10013 ! GRK1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10013 {source="mim2gene_medgen"} ! GRK1 @@ -263706,8 +263586,8 @@ synonym: "distal del(16)(p11.2)" EXACT [Orphanet:261222] synonym: "distal monosomy 16p11.2" EXACT [Orphanet:261222] synonym: "obesity, susceptibility to" RELATED [OMIM:613444] xref: DOID:0060398 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="DOID:0060398", source="ORDO:261222/attributed", source="ORDO:261222/ntbt", source="Orphanet:261222"} -xref: OMIM:613444 {source="DOID:0060398", source="MONDO:equivalentTo", source="Orphanet:261222", source="ORDO:261222/e"} +xref: ICD10CM:Q93.5 {source="DOID:0060398", source="Orphanet:261222", source="Orphanet:261222/attributed", source="Orphanet:261222/ntbt"} +xref: OMIM:613444 {source="DOID:0060398", source="MONDO:equivalentTo", source="Orphanet:261222", source="Orphanet:261222/e"} xref: Orphanet:261222 {source="DOID:0060398", source="OMIM:613444", source="MONDO:equivalentTo"} xref: SCTID:733521003 {source="MONDO:equivalentTo"} xref: UMLS:C1843898 {source="OMIM:613444", source="MONDO:notFoundInDiseaseSubset"} @@ -263736,8 +263616,8 @@ synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical, OMIM:613451] synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613451] synonym: "frontonasal dysplasia with alopecia and genital abnomality" EXACT [Orphanet:228390] xref: GARD:0012641 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:228390", source="ORDO:228390/attributed", source="ORDO:228390/ntbt"} -xref: OMIM:613451 {source="ORDO:228390/e", source="Orphanet:228390", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:228390/attributed", source="Orphanet:228390/ntbt", source="Orphanet:228390"} +xref: OMIM:613451 {source="Orphanet:228390", source="MONDO:equivalentTo", source="Orphanet:228390/e"} xref: Orphanet:228390 {source="MONDO:equivalentTo", source="OMIM:613451"} xref: SCTID:725029001 {source="MONDO:equivalentTo"} xref: UMLS:C3150703 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613451"} @@ -263756,8 +263636,7 @@ synonym: "autosomal recessive deafness 91" NARROW [DOID:0110536] synonym: "autosomal recessive nonsyndromic deafness 91" NARROW CLINGEN_PREFERRED [OMIM:613453] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 91" NARROW [DOID:0110536, MONDORULE:2] -synonym: "deafness, autosomal recessive 91" NARROW [OMIM:613453, OMIM:genemap2] -synonym: "deafness, autosomal recessive 91" NARROW [MONDO:Lexical, OMIM:613453] +synonym: "deafness, autosomal recessive 91" NARROW [MONDO:Lexical, OMIM:613453, OMIM:genemap2] synonym: "deafness, autosomal recessive type 91" NARROW [MONDORULE:2, OMIM:613453] synonym: "DFNB91" NARROW ABBREVIATION [DOID:0110536, MONDO:Lexical, OMIM:613453] synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -263779,7 +263658,7 @@ synonym: "Rett syndrome, congenital variant" EXACT [OMIM:613454] xref: OMIM:613454 {source="MONDO:equivalentTo"} xref: Orphanet:3095 {source="MONDO:subClassOf", source="OMIM:613454"} xref: UMLS:C3150705 {source="OMIM:613454", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017746 {source="ORDO:3095/btnt"} ! atypical Rett syndrome +is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3811 {source="mim2gene_medgen"} ! FOXG1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -263795,7 +263674,7 @@ synonym: "FND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613456] synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical, OMIM:613456] synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, OMIM:613456] xref: GARD:0012640 {source="MONDO:equivalentTo"} -xref: OMIM:613456 {source="MONDO:equivalentTo", source="ORDO:306542/e", source="Orphanet:306542"} +xref: OMIM:613456 {source="Orphanet:306542/e", source="MONDO:equivalentTo", source="Orphanet:306542"} xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"} xref: UMLS:C3150706 {source="NCBI:mim2gene_medline", source="OMIM:613456", source="MONDO:equivalentTo"} is_a: MONDO:0015334 {source="Orphanet:306542"} ! branchial arch or oral-acral syndrome @@ -263816,8 +263695,8 @@ synonym: "chromosome 14q11-q22 deletion syndrome, isolated cases" EXACT [OMIM:61 synonym: "Del(14)(q11.2)" EXACT [Orphanet:261120] synonym: "monosomy 14q11.2" EXACT [Orphanet:261120] xref: DOID:0060392 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:261120", source="ORDO:261120/attributed", source="ORDO:261120/ntbt"} -xref: OMIM:613457 {source="ORDO:261120/e", source="Orphanet:261120", source="MONDO:equivalentTo", source="DOID:0060392"} +xref: ICD10CM:Q93.5 {source="Orphanet:261120/attributed", source="Orphanet:261120/ntbt", source="Orphanet:261120"} +xref: OMIM:613457 {source="Orphanet:261120", source="MONDO:equivalentTo", source="Orphanet:261120/e", source="DOID:0060392"} xref: Orphanet:261120 {source="OMIM:613457", source="MONDO:equivalentTo", source="DOID:0060392"} xref: SCTID:719047001 {source="MONDO:equivalentTo"} xref: UMLS:C3150707 {source="OMIM:613457", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -263850,7 +263729,7 @@ synonym: "telomeric duplication 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "trisomy 16pter" EXACT [Orphanet:96078] xref: DOID:0060431 {source="MONDO:equivalentTo"} xref: GARD:0010755 {source="MONDO:equivalentTo"} -xref: OMIM:613458 {source="Orphanet:96078", source="DOID:0060431", source="MONDO:equivalentTo", source="GARD:0010755", source="ORDO:96078/e"} +xref: OMIM:613458 {source="Orphanet:96078", source="DOID:0060431", source="MONDO:equivalentTo", source="Orphanet:96078/e", source="GARD:0010755"} xref: Orphanet:96078 {source="DOID:0060431", source="MONDO:equivalentTo", source="OMIM:613458", source="GARD:0010755"} xref: SCTID:733473000 {source="MONDO:equivalentTo"} xref: UMLS:C3150708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613458"} @@ -263888,8 +263767,8 @@ subset: ordo_disease {source="Orphanet:712"} synonym: "glucosephosphate isomerase deficiency" EXACT [GARD:0002502] synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [OMIM:613470] xref: GARD:0002502 {source="MONDO:equivalentTo"} -xref: ICD10CM:D55.2 {source="Orphanet:712", source="ORDO:712/attributed", source="ORDO:712/ntbt"} -xref: OMIM:613470 {source="ORDO:712/e", source="Orphanet:712", source="MONDO:equivalentTo"} +xref: ICD10CM:D55.2 {source="Orphanet:712/attributed", source="Orphanet:712/ntbt", source="Orphanet:712"} +xref: OMIM:613470 {source="Orphanet:712", source="MONDO:equivalentTo", source="Orphanet:712/e"} xref: Orphanet:712 {source="MONDO:equivalentTo", source="OMIM:613470"} xref: UMLS:C3150730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613470"} xref: UMLS:CN072763 {source="MONDO:equivalentTo"} @@ -263910,9 +263789,9 @@ synonym: "primary biliary cirrhosis and systemic scleroderma" EXACT [Orphanet:77 synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [OMIM:613471] synonym: "Reynolds syndrome" EXACT [OMIM:613471] xref: GARD:0004697 {source="MONDO:equivalentTo"} -xref: ICD10CM:K74.3 {source="Orphanet:779", source="ORDO:779/nd"} -xref: ICD10CM:L94.0 {source="Orphanet:779", source="ORDO:779/nd"} -xref: OMIM:613471 {source="ORDO:779/e", source="Orphanet:779", source="MONDO:equivalentTo"} +xref: ICD10CM:K74.3 {source="Orphanet:779", source="Orphanet:779/nd"} +xref: ICD10CM:L94.0 {source="Orphanet:779", source="Orphanet:779/nd"} +xref: OMIM:613471 {source="Orphanet:779", source="MONDO:equivalentTo", source="Orphanet:779/e"} xref: Orphanet:779 {source="MONDO:equivalentTo", source="OMIM:613471"} xref: SCTID:715401008 {source="MONDO:equivalentTo"} xref: UMLS:C0748397 {source="Orphanet:779", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613471"} @@ -263936,7 +263815,7 @@ xref: DOID:0080438 {source="MONDO:equivalentTo"} xref: OMIM:613477 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:613477"} xref: UMLS:C3150731 {source="OMIM:613477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:613477", source="MONDO:Redundant", source="OMIM:613477"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11273 ! SPTAN1 @@ -263958,7 +263837,7 @@ xref: DOID:0070208 {source="MONDO:equivalentTo"} xref: OMIM:613480 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:subClassOf", source="OMIM:613480"} xref: UMLS:C3150732 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:613480"} -is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:613480", source="ORDO:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:613480", source="Orphanet:79452/btnt"} ! lymphatic malformation intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17494 ! GJC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17494 {source="mim2gene_medgen"} ! GJC2 @@ -264011,7 +263890,7 @@ xref: SCTID:404069006 {source="MONDO:equivalentTo", source="EFO:0000613", source xref: UMLS:C0206634 {source="NCIT:C27781", source="OMIM:613488", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:5363"} xref: UMLS:C0545074 {source="MONDO:notFoundInDiseaseSubset", source="DOID:5709"} is_a: MONDO:0005060 {source="DOID:5363", source="DOID:5709", source="EFO:0000613", source="MESH:D018208", source="MONDO:Redundant", source="NCIT:C27781", source="indirect", source="linkedlifedata"} ! liposarcoma -is_a: MONDO:0020561 {source="ORDO:99967/btnt"} ! myxoid/round cell liposarcoma +is_a: MONDO:0020561 {source="Orphanet:99967/btnt"} ! myxoid/round cell liposarcoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2726 {source="mim2gene_medgen"} ! DDIT3 relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue property_value: confidence "0.6458333333333333" xsd:double @@ -264033,8 +263912,8 @@ synonym: "congenital disorder of glycosylation type IIj" EXACT [Orphanet:263501] synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical, OMIM:613489] xref: DOID:0070262 {source="MONDO:equivalentTo"} xref: GARD:0012412 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:263501/attributed", source="ORDO:263501/ntbt", source="Orphanet:263501"} -xref: OMIM:613489 {source="MONDO:equivalentTo", source="Orphanet:263501", source="ORDO:263501/e"} +xref: ICD10CM:E77.8 {source="Orphanet:263501", source="Orphanet:263501/attributed", source="Orphanet:263501/ntbt"} +xref: OMIM:613489 {source="MONDO:equivalentTo", source="Orphanet:263501", source="Orphanet:263501/e"} xref: Orphanet:263501 {source="OMIM:613489", source="MONDO:equivalentTo"} xref: SCTID:718751000 {source="MONDO:equivalentTo"} xref: UMLS:C3150736 {source="NCBI:mim2gene_medline", source="OMIM:613489", source="MONDO:equivalentTo"} @@ -264071,18 +263950,18 @@ synonym: "emphysema-cirrhosis, due to AAT deficiency" EXACT [OMIM:613490, OMIM:g synonym: "hemorrhagic diathesis due to antithrombin pittsburgh" EXACT [OMIM:613490, OMIM:genemap2] xref: DOID:13372 {source="MONDO:equivalentTo"} xref: GARD:0005784 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.0 {source="ORDO:60/ntbt", source="ORDO:60/inclusion", source="Orphanet:60"} +xref: ICD10CM:E88.0 {source="Orphanet:60/inclusion", source="Orphanet:60/ntbt", source="Orphanet:60"} xref: ICD10CM:E88.01 {source="DOID:13372", source="MONDO:equivalentTo"} xref: ICD9:273.4 {source="DOID:13372", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10001806 {source="ORDO:60/e", source="Orphanet:60"} -xref: MESH:C531610 {source="ORDO:60/e", source="Orphanet:60"} -xref: MESH:D019896 {source="DOID:13372", source="MONDO:equivalentTo", source="ORDO:60/e", source="Orphanet:60"} +xref: MedDRA:10001806 {source="Orphanet:60/e", source="Orphanet:60"} +xref: MESH:C531610 {source="Orphanet:60/e", source="Orphanet:60"} +xref: MESH:D019896 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="Orphanet:60"} xref: NCIT:C84397 {source="DOID:13372", source="MONDO:equivalentTo"} -xref: OMIM:613490 {source="DOID:13372", source="MONDO:equivalentTo", source="ORDO:60/e", source="Orphanet:60"} +xref: OMIM:613490 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="Orphanet:60"} xref: Orphanet:60 {source="MONDO:equivalentTo", source="OMIM:613490"} xref: SCTID:154771007 {source="DOID:13372"} xref: SCTID:30188007 {source="DOID:13372", source="MONDO:equivalentTo"} -xref: UMLS:C0221757 {source="NCBI:mim2gene_medline", source="DOID:13372", source="MONDO:equivalentTo", source="NCIT:C84397", source="ORDO:60/e", source="OMIM:613490", source="Orphanet:60"} +xref: UMLS:C0221757 {source="Orphanet:60/e", source="NCBI:mim2gene_medline", source="DOID:13372", source="MONDO:equivalentTo", source="NCIT:C84397", source="OMIM:613490", source="Orphanet:60"} xref: UMLS:C3501835 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:60"} is_a: MONDO:0002254 {source="NCIT:C84397"} ! syndromic disease is_a: MONDO:0002273 {source="DOID:13372"} ! plasma protein metabolism disease @@ -264174,7 +264053,7 @@ xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:613500"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:613500"} xref: UMLS:C3150750 {source="NCBI:mim2gene_medline", source="OMIM:613500", source="MONDO:equivalentTo"} is_a: MONDO:0002211 {source="DOID:0060024"} ! B cell deficiency -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613500", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5870 ! IGLL1 @@ -264194,7 +264073,7 @@ xref: OMIM:613501 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:613501"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:613501"} xref: UMLS:C3150751 {source="OMIM:613501", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613501", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1698 ! CD79A @@ -264215,7 +264094,7 @@ xref: OMIM:613502 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:613502"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:613502"} xref: UMLS:C3150752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613502"} -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613502", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14211 ! BLNK @@ -264238,7 +264117,7 @@ xref: OMIM:613506 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:613506"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:613506"} xref: UMLS:C3150753 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613506"} -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613506", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19027 ! LRRC8A @@ -264267,8 +264146,8 @@ synonym: "GSD with severe cardiomyopathy due to glycogenin deficiency" EXACT [Or synonym: "GSD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613507] synonym: "Gyg1 deficiency" RELATED [OMIM:613507] xref: DOID:0050579 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:263297", source="ORDO:263297/attributed", source="ORDO:263297/ntbt"} -xref: OMIM:613507 {source="Orphanet:263297", source="ORDO:263297/e", source="DOID:0050579", source="MONDO:equivalentTo"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:263297", source="Orphanet:263297/attributed", source="Orphanet:263297/ntbt"} +xref: OMIM:613507 {source="Orphanet:263297", source="DOID:0050579", source="MONDO:equivalentTo", source="Orphanet:263297/e"} xref: Orphanet:263297 {source="MONDO:equivalentTo", source="OMIM:613507"} xref: SCTID:717821004 {source="MONDO:equivalentTo"} xref: UMLS:C3150754 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613507"} @@ -264288,8 +264167,8 @@ synonym: "chromosome 4q21 deletion syndrome, isolated cases" EXACT [OMIM:613509, synonym: "Del(4)(q21)" EXACT [Orphanet:238750] synonym: "monosomy 4q21" EXACT [DOID:0060420, Orphanet:238750] xref: DOID:0060420 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:238750", source="ORDO:238750/attributed", source="ORDO:238750/ntbt"} -xref: OMIM:613509 {source="DOID:0060420", source="MONDO:equivalentTo", source="Orphanet:238750", source="ORDO:238750/e"} +xref: ICD10CM:Q93.5 {source="Orphanet:238750/attributed", source="Orphanet:238750/ntbt", source="Orphanet:238750"} +xref: OMIM:613509 {source="DOID:0060420", source="Orphanet:238750/e", source="MONDO:equivalentTo", source="Orphanet:238750"} xref: Orphanet:238750 {source="DOID:0060420", source="MONDO:equivalentTo", source="OMIM:613509"} xref: SCTID:719660008 {source="MONDO:equivalentTo"} xref: UMLS:C3150756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613509"} @@ -264320,7 +264199,7 @@ xref: OMIM:613517 {source="MONDO:equivalentTo", source="DOID:0060835"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="DOID:0060835", source="OMIM:613517"} xref: UMLS:C3150757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613517"} is_a: MONDO:0000062 {source="DC-OMIM:613517", source="MONDO:Redundant", source="OMIM:613517"} ! isolated microphthalmia -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/39433 ! PRSS56 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/39433 {source="mim2gene_medgen"} ! PRSS56 @@ -264371,10 +264250,10 @@ synonym: "myeloid and lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C synonym: "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" RELATED [Orphanet:168953] synonym: "myeloid/lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277] synonym: "stem cell leukemia/lymphoma" EXACT [OMIM:613523, Orphanet:168953] -xref: ICD10CM:D47.1 {source="ORDO:168953/ntbt", source="Orphanet:168953"} +xref: ICD10CM:D47.1 {source="Orphanet:168953", source="Orphanet:168953/ntbt"} xref: ICDO:9967/3 {source="NCIT:C84277"} xref: NCIT:C84277 {source="MONDO:equivalentTo"} -xref: OMIM:613523 {source="ORDO:168953/e", source="MONDO:equivalentTo", source="Orphanet:168953"} +xref: OMIM:613523 {source="MONDO:equivalentTo", source="Orphanet:168953", source="Orphanet:168953/e"} xref: ONCOTREE:MLNFGFR1 {source="MONDO:equivalentTo"} xref: Orphanet:168953 {source="OMIM:613523", source="MONDO:equivalentTo"} xref: UMLS:C2827362 {source="MONDO:equivalentTo", source="NCIT:C84277"} @@ -264393,8 +264272,8 @@ synonym: "muscular dystrophy limb-girdle type 1H" EXACT [DOID:0110303] synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical, OMIM:613530] xref: DOID:0110303 {source="MONDO:equivalentTo"} xref: GARD:0012532 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="DOID:0110303", source="MONDO:subClassOf", source="Orphanet:238755", source="ORDO:238755/attributed", source="ORDO:238755/ntbt"} -xref: OMIM:613530 {source="DOID:0110303", source="ORDO:238755/e", source="Orphanet:238755", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.0 {source="DOID:0110303", source="MONDO:subClassOf", source="Orphanet:238755/attributed", source="Orphanet:238755/ntbt", source="Orphanet:238755"} +xref: OMIM:613530 {source="DOID:0110303", source="Orphanet:238755", source="MONDO:equivalentTo", source="Orphanet:238755/e"} xref: Orphanet:238755 {source="DOID:0110303", source="OMIM:613530", source="MONDO:equivalentTo"} xref: UMLS:C3150786 {source="OMIM:613530", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015151 {source="DOID:0110303", source="OMIM:613530", source="Orphanet:238755"} ! muscular dystrophy, limb-girdle, autosomal dominant @@ -264410,7 +264289,7 @@ synonym: "chromosome 17q21.31 duplication syndrome" EXACT [OMIM:613533] synonym: "dup(17)(q21.31)" EXACT [Orphanet:217340] synonym: "trisomy 17q21.31" EXACT [DOID:0060434, Orphanet:217340] xref: DOID:0060434 {source="MONDO:equivalentTo"} -xref: OMIM:613533 {source="MONDO:equivalentTo", source="DOID:0060434", source="Orphanet:217340", source="ORDO:217340/e"} +xref: OMIM:613533 {source="MONDO:equivalentTo", source="DOID:0060434", source="Orphanet:217340", source="Orphanet:217340/e"} xref: Orphanet:217340 {source="OMIM:613533", source="MONDO:equivalentTo", source="DOID:0060434"} xref: SCTID:716683005 {source="MONDO:equivalentTo"} xref: UMLS:C3150787 {source="NCBI:mim2gene_medline", source="OMIM:613533", source="MONDO:equivalentTo"} @@ -264453,10 +264332,10 @@ synonym: "lateral cleft, isolated" RELATED [OMIM:613545] synonym: "macrostomia" EXACT [Orphanet:141276] synonym: "macrostomia, isolated" RELATED [OMIM:613545] synonym: "transverse cleft, isolated" RELATED [OMIM:613545] -xref: ICD10CM:Q18.4 {source="Orphanet:141276", source="ORDO:141276/attributed", source="ORDO:141276/ntbt"} +xref: ICD10CM:Q18.4 {source="Orphanet:141276/attributed", source="Orphanet:141276/ntbt", source="Orphanet:141276"} xref: ICD9:744.83 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D008265 {source="MONDO:equivalentTo"} -xref: OMIM:613545 {source="Orphanet:141276", source="ORDO:141276/e", source="MONDO:equivalentTo"} +xref: OMIM:613545 {source="Orphanet:141276", source="MONDO:equivalentTo", source="Orphanet:141276/e"} xref: Orphanet:141276 {source="OMIM:613545", source="MONDO:equivalentTo"} xref: SCTID:40159009 {source="MONDO:equivalentTo"} xref: UMLS:C0024433 {source="Orphanet:141276", source="MONDO:notFoundInDiseaseSubset"} @@ -264474,13 +264353,13 @@ synonym: "aromatase deficiency" EXACT [OMIM:613546] synonym: "congenital estrogen deficiency" EXACT [Orphanet:91] synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546] xref: GARD:0000365 {source="MONDO:equivalentTo"} -xref: ICD10CM:E25.8 {source="ORDO:91/attributed", source="ORDO:91/ntbt", source="Orphanet:91"} -xref: MESH:C537436 {source="MONDO:equivalentTo", source="ORDO:91/e", source="Orphanet:91"} +xref: ICD10CM:E25.8 {source="Orphanet:91/attributed", source="Orphanet:91/ntbt", source="Orphanet:91"} +xref: MESH:C537436 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} xref: NCIT:C120144 {source="MONDO:equivalentTo"} -xref: OMIM:613546 {source="MONDO:equivalentTo", source="ORDO:91/e", source="Orphanet:91"} +xref: OMIM:613546 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} xref: Orphanet:91 {source="MONDO:equivalentTo", source="OMIM:613546"} xref: UMLS:C0853662 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91"} -xref: UMLS:C0878680 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:91/e", source="Orphanet:91"} +xref: UMLS:C0878680 {source="Orphanet:91/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91"} xref: UMLS:C1960539 {source="MONDO:equivalentTo", source="OMIM:613546", source="Orphanet:91"} is_a: MONDO:0005372 {source="MONDO:0018386-obsoleted", source="MONDO:0018405-obsoleted"} ! male infertility is_a: MONDO:0017962 {source="Orphanet:91"} ! 46,XX disorder of sex development induced by fetoplacental androgens excess @@ -264504,7 +264383,7 @@ xref: OMIM:613550 {source="DOID:0111118", source="MONDO:equivalentTo"} xref: Orphanet:84081 {source="MONDO:subClassOf", source="OMIM:613550"} xref: UMLS:C3150796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613550"} is_a: MONDO:0019005 {source="DC-OMIM:613550", source="DOID:0111118", source="MONDO:Redundant", source="OMIM:613550"} ! nephronophthisis -is_a: MONDO:0019394 {source="MONDO:Redundant", source="ORDO:84081/btnt"} ! Senior-Boichis syndrome +is_a: MONDO:0019394 {source="MONDO:Redundant", source="Orphanet:84081/btnt"} ! Senior-Boichis syndrome intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: MONDO:0019394 ! Senior-Boichis syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28396 ! TMEM67 @@ -264552,9 +264431,9 @@ synonym: "VWD type 2" EXACT [DOID:0060574] synonym: "VWD, type 2" RELATED [OMIM:613554] synonym: "VWD2" EXACT ABBREVIATION [DOID:0060574, MONDO:Lexical, OMIM:613554] xref: DOID:0060574 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="ORDO:166081/attributed", source="ORDO:166081/ntbt", source="Orphanet:166081"} -xref: MESH:D056728 {source="DOID:0060574", source="MONDO:equivalentTo", source="ORDO:166081/e", source="Orphanet:166081"} -xref: OMIM:613554 {source="DOID:0060574", source="MONDO:equivalentTo", source="ORDO:166081/e", source="Orphanet:166081"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166081/attributed", source="Orphanet:166081/ntbt", source="Orphanet:166081"} +xref: MESH:D056728 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"} +xref: OMIM:613554 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"} xref: Orphanet:166081 {source="DOID:0060574", source="OMIM:613554", source="MONDO:equivalentTo"} xref: Orphanet:166084 {source="OMIM:613554", source="MONDO:superClassOf"} xref: Orphanet:166087 {source="OMIM:613554", source="MONDO:superClassOf"} @@ -264562,7 +264441,7 @@ xref: Orphanet:166090 {source="OMIM:613554", source="MONDO:superClassOf"} xref: Orphanet:166093 {source="OMIM:613554", source="MONDO:superClassOf"} xref: Orphanet:903 {source="MONDO:subClassOf", source="OMIM:613554"} xref: SCTID:128107007 {source="MONDO:equivalentTo"} -xref: UMLS:C1264040 {source="DOID:0060574", source="OMIM:613554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:166081/e", source="Orphanet:166081"} +xref: UMLS:C1264040 {source="Orphanet:166081/e", source="DOID:0060574", source="OMIM:613554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:166081"} xref: UMLS:C1282968 {source="OMIM:613554", source="MONDO:superClassOf"} xref: UMLS:C1282971 {source="OMIM:613554", source="MONDO:superClassOf"} xref: UMLS:C1282974 {source="OMIM:613554", source="MONDO:superClassOf"} @@ -264581,8 +264460,7 @@ synonym: "autosomal dominant nonsyndromic deafness 51" NARROW [OMIM:613558] synonym: "autosomal dominant nonsyndromic deafness type 51" NARROW [DOID:0110577, MONDORULE:2] synonym: "chromosome 9Q21.11 Duplication syndrome" NARROW [OMIM:613558] synonym: "chromosome 9q21.11 duplication syndrome" EXACT [DOID:0110577] -synonym: "deafness, autosomal dominant 51" NARROW [MONDO:Lexical, OMIM:613558] -synonym: "deafness, autosomal dominant 51" NARROW [OMIM:613558, OMIM:genemap2] +synonym: "deafness, autosomal dominant 51" NARROW [MONDO:Lexical, OMIM:613558, OMIM:genemap2] synonym: "deafness, autosomal dominant type 51" NARROW [MONDORULE:2, OMIM:613558] synonym: "DFNA51" NARROW ABBREVIATION [DOID:0110577, MONDO:Lexical, OMIM:613558] xref: DOID:0110577 {source="MONDO:equivalentTo"} @@ -264608,8 +264486,8 @@ synonym: "COXPD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613559, Orphanet:25493 synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930] synonym: "severe C12ORF65-related COXPD" EXACT [Orphanet:254930] xref: DOID:0111487 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:254930/attributed", source="ORDO:254930/ntbt", source="Orphanet:254930"} -xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source="ORDO:254930/e"} +xref: ICD10CM:G31.8 {source="Orphanet:254930", source="Orphanet:254930/attributed", source="Orphanet:254930/ntbt"} +xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source="Orphanet:254930/e"} xref: Orphanet:254930 {source="MONDO:equivalentTo", source="OMIM:613559"} xref: SCTID:763204003 {source="MONDO:equivalentTo"} xref: UMLS:C3150801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613559"} @@ -264631,7 +264509,7 @@ xref: DOID:0111186 {source="MONDO:equivalentTo"} xref: OMIM:613561 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="MONDO:subClassOf", source="OMIM:613561"} xref: UMLS:C3150802 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613561"} -is_a: MONDO:0000863 {source="MONDO:Redundant", source="ORDO:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia +is_a: MONDO:0000863 {source="MONDO:Redundant", source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24249 ! YARS2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24249 {source="mim2gene_medgen"} ! YARS2 @@ -264650,8 +264528,8 @@ synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" E synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563] synonym: "Noonan-like syndrome" EXACT [] synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613563] -xref: ICD10CM:Q87.1 {source="ORDO:363972/attributed", source="ORDO:363972/ntbt", source="Orphanet:363972"} -xref: OMIM:613563 {source="ORDO:363972/e", source="MONDO:equivalentTo", source="Orphanet:363972"} +xref: ICD10CM:Q87.1 {source="Orphanet:363972", source="Orphanet:363972/attributed", source="Orphanet:363972/ntbt"} +xref: OMIM:613563 {source="MONDO:equivalentTo", source="Orphanet:363972", source="Orphanet:363972/e"} xref: Orphanet:363972 {source="OMIM:613563", source="MONDO:equivalentTo"} xref: UMLS:C3150803 {source="OMIM:613563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C4016301 {source="MONDO:equivalentTo"} @@ -264687,8 +264565,8 @@ synonym: "disordered steroidogenesis due to POR deficiency" RELATED [OMIM:613571 synonym: "POR deficiency" EXACT [Orphanet:95699] synonym: "PORD" EXACT ABBREVIATION [Orphanet:95699] xref: GARD:0012664 {source="MONDO:equivalentTo"} -xref: ICD10CM:E25.0 {source="Orphanet:95699", source="ORDO:95699/attributed", source="ORDO:95699/ntbt"} -xref: OMIM:613571 {source="ORDO:95699/e", source="MONDO:equivalentTo", source="Orphanet:95699"} +xref: ICD10CM:E25.0 {source="Orphanet:95699", source="Orphanet:95699/attributed", source="Orphanet:95699/ntbt"} +xref: OMIM:613571 {source="MONDO:equivalentTo", source="Orphanet:95699", source="Orphanet:95699/e"} xref: Orphanet:418 {source="MONDO:subClassOf", source="OMIM:613571"} xref: Orphanet:95699 {source="MONDO:equivalentTo", source="OMIM:613571"} xref: SCTID:715733000 {source="MONDO:equivalentTo"} @@ -264717,8 +264595,8 @@ synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical, OM synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1, OMIM:613573] synonym: "EDSS" EXACT ABBREVIATION [Orphanet:247820] synonym: "EDSS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613573, Orphanet:247820] -xref: ICD10CM:Q82.8 {source="Orphanet:247820", source="ORDO:247820/attributed", source="ORDO:247820/ntbt"} -xref: OMIM:613573 {source="Orphanet:247820", source="ORDO:247820/e", source="MONDO:superClassOf"} +xref: ICD10CM:Q82.8 {source="Orphanet:247820", source="Orphanet:247820/attributed", source="Orphanet:247820/ntbt"} +xref: OMIM:613573 {source="Orphanet:247820", source="MONDO:superClassOf", source="Orphanet:247820/e"} xref: OMIMPS:613573 {source="MONDO:equivalentTo"} xref: Orphanet:247820 {source="OMIM:613573", source="MONDO:equivalentTo"} xref: UMLS:CN228599 {source="MONDO:equivalentTo"} @@ -264750,8 +264628,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:247827"} synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical, OMIM:613576] synonym: "EDCS" EXACT ABBREVIATION [Orphanet:247827] synonym: "EDSS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613576, Orphanet:247827] -xref: ICD10CM:Q82.8 {source="ORDO:247827/attributed", source="ORDO:247827/ntbt", source="Orphanet:247827"} -xref: OMIM:613576 {source="MONDO:equivalentTo", source="ORDO:247827/e", source="Orphanet:247827"} +xref: ICD10CM:Q82.8 {source="Orphanet:247827/attributed", source="Orphanet:247827/ntbt", source="Orphanet:247827"} +xref: OMIM:613576 {source="Orphanet:247827/e", source="MONDO:equivalentTo", source="Orphanet:247827"} xref: Orphanet:247827 {source="OMIM:613576", source="MONDO:equivalentTo"} xref: UMLS:C3150809 {source="OMIM:613576", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0013311 {source="DC-OMIM:613576", source="OMIM:613576"} ! ectodermal dysplasia-syndactyly syndrome @@ -264807,8 +264685,8 @@ synonym: "OCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613587, Orphanet:247834] synonym: "OMD" EXACT ABBREVIATION [Orphanet:247834] synonym: "Omd" RELATED [OMIM:613587] xref: DOID:0050578 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:247834/attributed", source="ORDO:247834/ntbt", source="Orphanet:247834"} -xref: OMIM:613587 {source="ORDO:247834/e", source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:247834", source="Orphanet:247834/attributed", source="Orphanet:247834/ntbt"} +xref: OMIM:613587 {source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834", source="Orphanet:247834/e"} xref: Orphanet:247834 {source="OMIM:613587", source="MONDO:equivalentTo"} xref: UMLS:C3150833 {source="OMIM:613587", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003004 {source="DOID:0050578", source="OMIM:613587"} ! macular degeneration @@ -264824,8 +264702,8 @@ name: torsade-de-pointes syndrome with short coupling interval def: "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." [Orphanet:51084] subset: ordo_disease {source="Orphanet:51084"} synonym: "torsade DE pointes, short-coupled variant" RELATED [OMIM:613600] -xref: ICD10CM:I49.8 {source="ORDO:51084/attributed", source="ORDO:51084/ntbt", source="Orphanet:51084"} -xref: OMIM:613600 {source="MONDO:equivalentTo", source="ORDO:51084/e", source="Orphanet:51084"} +xref: ICD10CM:I49.8 {source="Orphanet:51084/attributed", source="Orphanet:51084/ntbt", source="Orphanet:51084"} +xref: OMIM:613600 {source="Orphanet:51084/e", source="MONDO:equivalentTo", source="Orphanet:51084"} xref: Orphanet:51084 {source="OMIM:613600", source="MONDO:equivalentTo"} xref: SCTID:718104007 {source="MONDO:equivalentTo"} xref: UMLS:C3150851 {source="OMIM:613600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -264863,8 +264741,8 @@ synonym: "Del(16)(p11.2p12.2)" EXACT [Orphanet:261211] synonym: "monosomy 16p11.2-p12.2" EXACT [Orphanet:261211] synonym: "monosomy 16p11.2p12.2" EXACT [Orphanet:261211] xref: DOID:0060400 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="DOID:0060400", source="ORDO:261211/attributed", source="ORDO:261211/ntbt", source="Orphanet:261211"} -xref: OMIM:613604 {source="DOID:0060400", source="MONDO:equivalentTo", source="Orphanet:261211", source="ORDO:261211/e"} +xref: ICD10CM:Q93.5 {source="DOID:0060400", source="Orphanet:261211", source="Orphanet:261211/attributed", source="Orphanet:261211/ntbt"} +xref: OMIM:613604 {source="DOID:0060400", source="MONDO:equivalentTo", source="Orphanet:261211", source="Orphanet:261211/e"} xref: Orphanet:261211 {source="DOID:0060400", source="MONDO:equivalentTo", source="OMIM:613604"} xref: SCTID:719576009 {source="MONDO:equivalentTo"} xref: UMLS:C3150858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613604"} @@ -264900,7 +264778,7 @@ xref: OMIM:613608 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="MONDO:subClassOf", source="OMIM:613608"} xref: UMLS:C3150860 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613608"} is_a: MONDO:0000160 {source="DC-OMIM:613608", source="OMIM:613608"} ! epilepsy, familial adult myoclonic -relationship: excluded_subClassOf MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy +relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt"} ! benign adult familial myoclonic epilepsy property_value: confidence "0.11978947957783914" xsd:double [Term] @@ -264916,7 +264794,7 @@ synonym: "WDR35 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:p xref: OMIM:613610 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="MONDO:subClassOf", source="OMIM:613610"} xref: UMLS:C3150874 {source="NCBI:mim2gene_medline", source="OMIM:613610", source="MONDO:equivalentTo"} -is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:613610", source="ORDO:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:613610", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29250 ! WDR35 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29250 {source="mim2gene_medgen"} ! WDR35 @@ -264929,8 +264807,8 @@ name: lymphedema-posterior choanal atresia syndrome subset: ordo_malformation_syndrome {source="Orphanet:99141"} synonym: "CATLPH" RELATED ABBREVIATION [OMIM:613611] synonym: "choanal atresia and lymphedema" RELATED [OMIM:613611] -xref: ICD10CM:Q82.0 {source="ORDO:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"} -xref: OMIM:613611 {source="MONDO:equivalentTo", source="ORDO:99141/e", source="Orphanet:99141"} +xref: ICD10CM:Q82.0 {source="Orphanet:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"} +xref: OMIM:613611 {source="Orphanet:99141/e", source="MONDO:equivalentTo", source="Orphanet:99141"} xref: Orphanet:99141 {source="MONDO:equivalentTo"} xref: UMLS:C3150875 {source="OMIM:613611", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002013 {source="Orphanet:99141"} ! lymphangioma @@ -264959,8 +264837,8 @@ synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical xref: DOID:0070261 {source="MONDO:equivalentTo"} xref: GARD:0001173 {source="MONDO:equivalentTo"} xref: GARD:0012348 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:263487/attributed", source="ORDO:263487/ntbt", source="Orphanet:263487"} -xref: OMIM:613612 {source="ORDO:263487/e", source="MONDO:equivalentTo", source="Orphanet:263487"} +xref: ICD10CM:E77.8 {source="Orphanet:263487", source="Orphanet:263487/attributed", source="Orphanet:263487/ntbt"} +xref: OMIM:613612 {source="MONDO:equivalentTo", source="Orphanet:263487", source="Orphanet:263487/e"} xref: Orphanet:263487 {source="MONDO:equivalentTo", source="OMIM:613612"} xref: SCTID:721100009 {source="MONDO:equivalentTo"} xref: UMLS:C3150876 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613612"} @@ -265008,9 +264886,9 @@ synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214] xref: DOID:0111672 {source="MONDO:equivalentTo"} xref: GARD:0010738 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.8 {source="ORDO:93600/attributed", source="ORDO:93600/ntbt", source="Orphanet:93600"} +xref: ICD10CM:E74.8 {source="Orphanet:93600", source="Orphanet:93600/attributed", source="Orphanet:93600/ntbt"} xref: NCIT:C123214 {source="MONDO:equivalentTo"} -xref: OMIM:613616 {source="ORDO:93600/e", source="MONDO:equivalentTo", source="Orphanet:93600"} +xref: OMIM:613616 {source="MONDO:equivalentTo", source="Orphanet:93600", source="Orphanet:93600/e"} xref: Orphanet:416 {source="MONDO:subClassOf", source="OMIM:613616"} xref: Orphanet:93600 {source="MONDO:equivalentTo", source="OMIM:613616"} xref: SCTID:734990008 {source="MONDO:equivalentTo"} @@ -265047,8 +264925,8 @@ def: "17q23.1-q23.2 microduplication is a newly described cause of familial isol subset: ordo_etiological_subtype {source="Orphanet:238578"} synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [OMIM:613618] synonym: "hereditary clubfoot due to 17q23.1-q23.2 microduplication" EXACT [Orphanet:238578] -xref: ICD10CM:Q66.8 {source="Orphanet:238578", source="ORDO:238578/attributed", source="ORDO:238578/ntbt"} -xref: OMIM:613618 {source="Orphanet:238578", source="ORDO:238578/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q66.8 {source="Orphanet:238578", source="Orphanet:238578/attributed", source="Orphanet:238578/ntbt"} +xref: OMIM:613618 {source="Orphanet:238578", source="MONDO:equivalentTo", source="Orphanet:238578/e"} xref: Orphanet:199315 {source="MONDO:subClassOf", source="OMIM:613618"} xref: Orphanet:238578 {source="MONDO:equivalentTo", source="OMIM:613618"} xref: UMLS:C3150880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613618"} @@ -265119,7 +264997,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:465824"} synonym: "cocoon syndrome" EXACT [OMIM:613630] synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630] xref: DOID:0060647 {source="MONDO:equivalentTo"} -xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="ORDO:465824/e", source="DOID:0060647"} +xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="DOID:0060647", source="Orphanet:465824/e"} xref: Orphanet:465824 {source="MONDO:equivalentTo"} xref: UMLS:C3150891 {source="OMIM:613630", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation @@ -265134,7 +265012,6 @@ name: tuberculin skin test reactivity, absence of synonym: "tst reactivity, absence of" RELATED [OMIM:613636] synonym: "Tst1" RELATED [OMIM:613636] synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636, OMIM:genemap2] -synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636] xref: OMIM:613636 {source="MONDO:equivalentTo"} xref: UMLS:C3150892 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613636"} is_a: MONDO:0003847 ! Mendelian disease @@ -265151,8 +265028,8 @@ synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [OMIM:613638] synonym: "Del(19)(p13.13)" EXACT [Orphanet:357001] synonym: "monosomy 19p13.13" EXACT [Orphanet:357001] xref: DOID:0060426 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:357001/attributed", source="ORDO:357001/ntbt", source="Orphanet:357001"} -xref: OMIM:613638 {source="MONDO:equivalentTo", source="DOID:0060426", source="ORDO:357001/e", source="Orphanet:357001"} +xref: ICD10CM:Q93.5 {source="Orphanet:357001/attributed", source="Orphanet:357001/ntbt", source="Orphanet:357001"} +xref: OMIM:613638 {source="Orphanet:357001/e", source="MONDO:equivalentTo", source="DOID:0060426", source="Orphanet:357001"} xref: Orphanet:357001 {source="MONDO:equivalentTo"} xref: SCTID:764440006 {source="MONDO:equivalentTo"} xref: UMLS:C3150894 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613638"} @@ -265183,7 +265060,7 @@ xref: DOID:0070157 {source="MONDO:equivalentTo"} xref: OMIM:613640 {source="DOID:0070157", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:subClassOf", source="OMIM:613640"} xref: UMLS:C3150896 {source="OMIM:613640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018213 {source="DOID:0070157", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070157", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11278 {source="mim2gene_medgen"} ! SPTLC2 property_value: confidence "0.7993530796457187" xsd:double @@ -265206,8 +265083,8 @@ synonym: "RI-CMT type B" EXACT [Orphanet:254334] synonym: "RI-CMTB" EXACT [DOID:0110204] xref: DOID:0110204 {source="MONDO:equivalentTo"} xref: GARD:0012454 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="DOID:0110204", source="Orphanet:254334", source="ORDO:254334/attributed", source="ORDO:254334/ntbt"} -xref: OMIM:613641 {source="DOID:0110204", source="Orphanet:254334", source="ORDO:254334/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="DOID:0110204", source="Orphanet:254334/attributed", source="Orphanet:254334/ntbt", source="Orphanet:254334"} +xref: OMIM:613641 {source="DOID:0110204", source="Orphanet:254334", source="MONDO:equivalentTo", source="Orphanet:254334/e"} xref: Orphanet:254334 {source="DOID:0110204", source="OMIM:613641", source="MONDO:equivalentTo"} xref: UMLS:C3150897 {source="OMIM:613641", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110204/inferred", source="MONDO:Redundant", source="OMIM:613641", source="Orphanet:254334/inferred"} ! Charcot-Marie-Tooth disease @@ -265252,7 +265129,7 @@ synonym: "young-onset Parkinson disease caused by mutation in UCHL1" EXACT [MOND xref: OMIM:613643 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="MONDO:subClassOf", source="OMIM:613643"} xref: UMLS:C3150899 {source="NCBI:mim2gene_medline", source="OMIM:613643", source="MONDO:equivalentTo"} -is_a: MONDO:0017279 {source="MONDO:Redundant", source="ORDO:2828/btnt"} ! young-onset Parkinson disease +is_a: MONDO:0017279 {source="MONDO:Redundant", source="Orphanet:2828/btnt"} ! young-onset Parkinson disease intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12513 ! UCHL1 intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease @@ -265273,8 +265150,8 @@ synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, OMIM:613646] synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [OMIM:613646] xref: DOID:0060741 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="DOID:0060741", source="Orphanet:280183", source="ORDO:280183/attributed", source="ORDO:280183/ntbt"} -xref: OMIM:613646 {source="ORDO:280183/e", source="DOID:0060741", source="Orphanet:280183", source="MONDO:equivalentTo"} +xref: ICD10CM:E71.1 {source="Orphanet:280183/attributed", source="Orphanet:280183/ntbt", source="DOID:0060741", source="Orphanet:280183"} +xref: OMIM:613646 {source="DOID:0060741", source="Orphanet:280183", source="MONDO:equivalentTo", source="Orphanet:280183/e"} xref: Orphanet:280183 {source="DOID:0060741", source="MONDO:equivalentTo", source="OMIM:613646"} xref: UMLS:C3150900 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613646"} is_a: MONDO:0002012 {source="DC-OMIM:613646", source="DOID:0060741", source="MONDO:Entailed", source="MONDO:Redundant"} ! methylmalonic acidemia @@ -265297,8 +265174,8 @@ synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE: synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647] synonym: "SPG48" EXACT ABBREVIATION [DOID:0110800, MONDO:Lexical, OMIM:613647, Orphanet:306511] xref: DOID:0110800 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110800", source="ORDO:306511/attributed", source="ORDO:306511/ntbt", source="Orphanet:306511"} -xref: OMIM:613647 {source="DOID:0110800", source="MONDO:equivalentTo", source="ORDO:306511/e", source="Orphanet:306511"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110800", source="Orphanet:306511/attributed", source="Orphanet:306511/ntbt", source="Orphanet:306511"} +xref: OMIM:613647 {source="DOID:0110800", source="Orphanet:306511/e", source="MONDO:equivalentTo", source="Orphanet:306511"} xref: Orphanet:306511 {source="DOID:0110800", source="MONDO:equivalentTo", source="OMIM:613647"} xref: SCTID:763367009 {source="MONDO:equivalentTo"} xref: UMLS:C3150901 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613647"} @@ -265325,7 +265202,7 @@ xref: OMIM:613652 {source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="MONDO:subClassOf", source="OMIM:613652"} xref: UMLS:C3150902 {source="OMIM:613652", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C119990"} is_a: MONDO:0003832 {source="NCIT:C119990", source="indirect"} ! complement deficiency -is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency +is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency property_value: confidence "1.1504873407530516" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency xsd:anyURI {source="GARD:0012958"} @@ -265364,7 +265241,7 @@ xref: DOID:0111352 {source="MONDO:equivalentTo"} xref: OMIM:613657 {source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="MONDO:subClassOf", source="OMIM:613657"} xref: UMLS:C3150909 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613657"} -is_a: MONDO:0010924 {source="MONDO:Redundant", source="OMIM:613657", source="ORDO:79315/btnt"} ! D-2-hydroxyglutaric aciduria +is_a: MONDO:0010924 {source="MONDO:Redundant", source="OMIM:613657", source="Orphanet:79315/btnt"} ! D-2-hydroxyglutaric aciduria intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5383 ! IDH2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5383 {source="mim2gene_medgen"} ! IDH2 @@ -265420,8 +265297,8 @@ synonym: "congenital disorder of glycosylation type Ip" EXACT [Orphanet:280071] synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical, OMIM:613661] xref: DOID:0080567 {source="MONDO:equivalentTo"} xref: GARD:0012396 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:280071", source="ORDO:280071/attributed", source="ORDO:280071/ntbt"} -xref: OMIM:613661 {source="ORDO:280071/e", source="Orphanet:280071", source="MONDO:equivalentTo"} +xref: ICD10CM:E77.8 {source="Orphanet:280071/attributed", source="Orphanet:280071/ntbt", source="Orphanet:280071"} +xref: OMIM:613661 {source="Orphanet:280071", source="MONDO:equivalentTo", source="Orphanet:280071/e"} xref: Orphanet:280071 {source="OMIM:613661", source="MONDO:equivalentTo"} xref: SCTID:733085004 {source="MONDO:equivalentTo"} xref: UMLS:C3150913 {source="OMIM:613661", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -265457,8 +265334,8 @@ synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" RELATED [GARD:0010995] xref: DOID:0111262 {source="MONDO:equivalentTo"} xref: GARD:0010995 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:402364", source="ORDO:402364/attributed", source="ORDO:402364/ntbt"} -xref: OMIM:613668 {source="MONDO:equivalentTo", source="Orphanet:402364", source="ORDO:402364/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:402364/attributed", source="Orphanet:402364/ntbt", source="Orphanet:402364"} +xref: OMIM:613668 {source="Orphanet:402364/e", source="MONDO:equivalentTo", source="Orphanet:402364"} xref: Orphanet:402364 {source="MONDO:equivalentTo", source="OMIM:613668"} xref: UMLS:C3150921 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613668"} is_a: MONDO:0002602 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder @@ -265478,8 +265355,8 @@ synonym: "mental retardation with language impairment and with or without autist xref: DOID:0111331 {source="MONDO:equivalentTo"} xref: EFO:1001500 {source="MONDO:equivalentTo"} xref: GARD:0012501 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:391372", source="ORDO:391372/attributed", source="ORDO:391372/ntbt"} -xref: OMIM:613670 {source="Orphanet:391372", source="ORDO:391372/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:391372/attributed", source="Orphanet:391372/ntbt", source="Orphanet:391372"} +xref: OMIM:613670 {source="Orphanet:391372", source="MONDO:equivalentTo", source="Orphanet:391372/e"} xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"} xref: UMLS:C3150923 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613670"} xref: UMLS:CN204965 {source="MONDO:equivalentTo"} @@ -265517,8 +265394,8 @@ synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1] synonym: "SPAX4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613672, Orphanet:254343] xref: DOID:0050943 {source="MONDO:equivalentTo"} xref: GARD:0010992 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G11.4 {source="Orphanet:254343", source="MONDO:relatedTo", source="ORDO:254343/attributed", source="ORDO:254343/ntbt"} -xref: OMIM:613672 {source="Orphanet:254343", source="ORDO:254343/e", source="MONDO:equivalentTo", source="DOID:0050943"} +xref: ICD10CM:G11.4 {source="Orphanet:254343", source="MONDO:relatedTo", source="Orphanet:254343/attributed", source="Orphanet:254343/ntbt"} +xref: OMIM:613672 {source="Orphanet:254343", source="MONDO:equivalentTo", source="Orphanet:254343/e", source="DOID:0050943"} xref: Orphanet:254343 {source="OMIM:613672", source="MONDO:equivalentTo"} xref: UMLS:C3150925 {source="OMIM:613672", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN230090 {source="MONDO:equivalentTo"} @@ -265547,8 +265424,8 @@ synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orpha synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825] synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [OMIM:613673, OMIM:genemap2] xref: DOID:0111400 {source="MONDO:equivalentTo"} -xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:293825", source="ORDO:293825/attributed", source="ORDO:293825/ntbt"} -xref: OMIM:613673 {source="Orphanet:293825", source="ORDO:293825/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:293825", source="Orphanet:293825/attributed", source="Orphanet:293825/ntbt"} +xref: OMIM:613673 {source="Orphanet:293825", source="MONDO:equivalentTo", source="Orphanet:293825/e"} xref: Orphanet:293825 {source="OMIM:613673", source="MONDO:equivalentTo"} xref: SCTID:719453009 {source="MONDO:equivalentTo"} xref: UMLS:C3150926 {source="OMIM:613673", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -265571,7 +265448,7 @@ synonym: "VUR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613674] xref: OMIM:613674 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:613674"} xref: UMLS:C3150927 {source="OMIM:613674", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:613674", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:613674", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux intersection_of: MONDO:0017329 ! familial vesicoureteral reflux intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18122 ! SOX17 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18122 {source="mim2gene_medgen"} ! SOX17 @@ -265599,10 +265476,10 @@ synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634] synonym: "Van Asperen syndrome" EXACT [DOID:0060403, OMIM:613675] xref: DOID:0060403 {source="MONDO:equivalentTo"} xref: GARD:0005408 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q85.0 {source="Orphanet:97685", source="DOID:0060403", source="ORDO:97685/attributed", source="ORDO:97685/ntbt"} -xref: ICD10CM:Q87.3 {source="Orphanet:137634", source="ORDO:137634/attributed", source="ORDO:137634/ntbt"} +xref: ICD10CM:Q85.0 {source="Orphanet:97685", source="Orphanet:97685/attributed", source="Orphanet:97685/ntbt", source="DOID:0060403"} +xref: ICD10CM:Q87.3 {source="Orphanet:137634/attributed", source="Orphanet:137634/ntbt", source="Orphanet:137634"} xref: MESH:C563524 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:613675 {source="Orphanet:97685", source="MONDO:equivalentTo", source="DOID:0060403", source="ORDO:97685/e"} +xref: OMIM:613675 {source="Orphanet:97685", source="MONDO:equivalentTo", source="Orphanet:97685/e", source="DOID:0060403"} xref: Orphanet:137634 {source="MONDO:equivalentTo", source="OMIM:614192"} xref: Orphanet:139474 {source="OMIM:613675", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:636 {source="MONDO:subClassOf", source="OMIM:613675"} @@ -265654,8 +265531,8 @@ synonym: "HALD3" RELATED ABBREVIATION [OMIM:613677] synonym: "hyperaldosteronism, familial, type 3" RELATED [OMIM:613677] synonym: "hyperaldosteronism, familial, type III" RELATED [OMIM:613677] xref: GARD:0012362 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:251274", source="ORDO:251274/attributed", source="ORDO:251274/ntbt"} -xref: OMIM:613677 {source="Orphanet:251274", source="ORDO:251274/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:251274", source="Orphanet:251274/attributed", source="Orphanet:251274/ntbt"} +xref: OMIM:613677 {source="Orphanet:251274", source="MONDO:equivalentTo", source="Orphanet:251274/e"} xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"} xref: SCTID:703234002 {source="MONDO:equivalentTo"} xref: UMLS:C3150933 {source="OMIM:613677", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -265672,8 +265549,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:93302"} synonym: "BCYM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613678] synonym: "brachyolmia type 2" EXACT [MONDO:Lexical, OMIM:613678, Orphanet:93302] synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678] -xref: ICD10CM:Q76.3 {source="ORDO:93302/attributed", source="ORDO:93302/ntbt", source="Orphanet:93302"} -xref: OMIM:613678 {source="ORDO:93302/e", source="MONDO:equivalentTo", source="Orphanet:93302"} +xref: ICD10CM:Q76.3 {source="Orphanet:93302", source="Orphanet:93302/attributed", source="Orphanet:93302/ntbt"} +xref: OMIM:613678 {source="MONDO:equivalentTo", source="Orphanet:93302", source="Orphanet:93302/e"} xref: Orphanet:93302 {source="MONDO:equivalentTo", source="OMIM:613678"} xref: SCTID:389165004 {source="MONDO:equivalentTo"} xref: UMLS:C1300264 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -265698,11 +265575,11 @@ synonym: "prothrombin deficiency" BROAD [OMIM:613679, OMIM:genemap2, Orphanet:32 synonym: "prothrombin deficiency, congenital" RELATED [OMIM:613679] xref: DOID:2235 {source="MONDO:equivalentTo"} xref: GARD:0002235 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="Orphanet:325", source="ORDO:325/attributed", source="ORDO:325/ntbt"} +xref: ICD10CM:D68.2 {source="Orphanet:325/attributed", source="Orphanet:325/ntbt", source="Orphanet:325"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D007020 {source="DOID:2235", source="MONDO:equivalentTo"} xref: NCIT:C131737 {source="MONDO:equivalentTo"} -xref: OMIM:613679 {source="Orphanet:325", source="DOID:2235", source="MONDO:equivalentTo", source="ORDO:325/e"} +xref: OMIM:613679 {source="Orphanet:325", source="DOID:2235", source="MONDO:equivalentTo", source="Orphanet:325/e"} xref: Orphanet:325 {source="MONDO:equivalentTo", source="OMIM:613679"} xref: SCTID:73975000 {source="MONDO:equivalentTo"} xref: UMLS:C0020640 {source="Orphanet:325", source="DOID:2235", source="NCBI:mim2gene_medline", source="NCIT:C131737", source="MONDO:equivalentTo", source="OMIM:613679"} @@ -265731,8 +265608,8 @@ synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical, OMIM:613680] synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [Orphanet:363444] synonym: "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [OMIM:613680] synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED DEPRECATED [OMIM:613680] -xref: ICD10CM:Q87.0 {source="ORDO:363444/attributed", source="ORDO:363444/ntbt", source="Orphanet:363444"} -xref: OMIM:613680 {source="ORDO:363444/e", source="MONDO:equivalentTo", source="Orphanet:363444"} +xref: ICD10CM:Q87.0 {source="Orphanet:363444", source="Orphanet:363444/attributed", source="Orphanet:363444/ntbt"} +xref: OMIM:613680 {source="MONDO:equivalentTo", source="Orphanet:363444", source="Orphanet:363444/e"} xref: Orphanet:363444 {source="MONDO:equivalentTo", source="OMIM:613680"} xref: UMLS:C3150939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613680"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363444", source="indirect"} ! syndromic intellectual disability @@ -265757,7 +265634,7 @@ xref: Orphanet:294026 {source="MONDO:equivalentTo"} xref: UMLS:C3150940 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613681"} xref: UMLS:CN203162 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000762 {source="DC-OMIM:613681", source="DOID:0060458"} ! syndrome caused by partial chromosomal duplication -is_a: MONDO:0007977 {source="ORDO:1836/btnt"} ! mesomelic dysplasia, Kantaputra type +is_a: MONDO:0007977 {source="Orphanet:1836/btnt"} ! mesomelic dysplasia, Kantaputra type is_a: MONDO:0016953 {source="MONDOLEX:0017412", source="Orphanet:294026"} ! partial duplication of the long arm of chromosome 2 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chr2q31.1 ! 2q31.1 (Human) @@ -265776,9 +265653,9 @@ synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical, OMIM:613684] synonym: "Rubinstein-Taybi syndrome caused by mutation in EP300" EXACT [] synonym: "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" EXACT CLINGEN_PREFERRED [] synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, OMIM:613684] -xref: ICD10CM:Q87.2 {source="ORDO:353284/attributed", source="ORDO:353284/ntbt", source="Orphanet:353284"} +xref: ICD10CM:Q87.2 {source="Orphanet:353284/attributed", source="Orphanet:353284/ntbt", source="Orphanet:353284"} xref: NCIT:C153291 {source="MONDO:equivalentTo"} -xref: OMIM:613684 {source="MONDO:equivalentTo", source="Orphanet:353284", source="ORDO:353284/e"} +xref: OMIM:613684 {source="Orphanet:353284/e", source="MONDO:equivalentTo", source="Orphanet:353284"} xref: Orphanet:353284 {source="OMIM:613684", source="MONDO:equivalentTo"} xref: Orphanet:783 {source="MONDO:subClassOf", source="OMIM:613684"} xref: UMLS:C3150941 {source="OMIM:613684", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -265796,8 +265673,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 83" NARROW [DOID:0110528] synonym: "autosomal recessive nonsyndromic deafness 83" NARROW [OMIM:613685] synonym: "autosomal recessive nonsyndromic deafness type 83" NARROW [DOID:0110528, MONDORULE:2] -synonym: "deafness, autosomal recessive 83" NARROW [MONDO:Lexical, OMIM:613685] -synonym: "deafness, autosomal recessive 83" NARROW [OMIM:613685, OMIM:genemap2] +synonym: "deafness, autosomal recessive 83" NARROW [MONDO:Lexical, OMIM:613685, OMIM:genemap2] synonym: "DFNB83" NARROW ABBREVIATION [DOID:0110528, MONDO:Lexical, OMIM:613685] xref: DOID:0110528 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110528"} @@ -265823,7 +265699,7 @@ xref: OMIM:613686 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="MONDO:subClassOf", source="OMIM:613686"} xref: UMLS:C3150942 {source="OMIM:613686", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:613686", source="indirect"} ! spondylocostal dysostosis -is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:613686", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis +is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:613686", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15977 ! HES7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15977 {source="mim2gene_medgen"} ! HES7 @@ -265874,8 +265750,8 @@ synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689] synonym: "MDN syndrome" EXACT [Orphanet:238744] synonym: "MDNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613689] synonym: "onycho-digito-mammary syndrome" EXACT [Orphanet:238744] -xref: ICD10CM:Q87.2 {source="Orphanet:238744", source="ORDO:238744/attributed", source="ORDO:238744/ntbt"} -xref: OMIM:613689 {source="ORDO:238744/e", source="Orphanet:238744", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.2 {source="Orphanet:238744/attributed", source="Orphanet:238744/ntbt", source="Orphanet:238744"} +xref: OMIM:613689 {source="Orphanet:238744", source="MONDO:equivalentTo", source="Orphanet:238744/e"} xref: Orphanet:238744 {source="MONDO:equivalentTo", source="OMIM:613689"} xref: SCTID:718679004 {source="MONDO:equivalentTo"} xref: UMLS:C3150946 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613689"} @@ -266044,7 +265920,7 @@ xref: OMIM:613702 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="MONDO:subClassOf", source="OMIM:613702"} xref: UMLS:C3150967 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613702"} is_a: MONDO:0001029 {source="MONDO:Redundant", source="OMIM:613702", source="OMIM:613702/inferred"} ! Klippel-Feil syndrome -is_a: MONDO:0016520 {source="MONDO:Redundant", source="ORDO:2345/btnt"} ! isolated Klippel-Feil syndrome +is_a: MONDO:0016520 {source="MONDO:Redundant", source="Orphanet:2345/btnt"} ! isolated Klippel-Feil syndrome intersection_of: MONDO:0016520 ! isolated Klippel-Feil syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4218 ! GDF3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4218 {source="mim2gene_medgen"} ! GDF3 @@ -266061,7 +265937,7 @@ synonym: "microphthalmia, isolated, with coloboma type 6" EXACT [MONDORULE:1, OM xref: OMIM:613703 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:613703"} xref: UMLS:C3150968 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613703"} -is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:613703", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:613703", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.8448594714285722" xsd:double @@ -266081,7 +265957,7 @@ xref: OMIM:613704 {source="MONDO:equivalentTo", source="DOID:0060838"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="OMIM:613704", source="DOID:0060838"} xref: UMLS:C3150969 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613704"} is_a: MONDO:0000062 {source="DC-OMIM:613704", source="MONDO:Redundant", source="OMIM:613704"} ! isolated microphthalmia -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4218 ! GDF3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4218 {source="mim2gene_medgen"} ! GDF3 @@ -266104,7 +265980,7 @@ xref: OMIM:613705 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="MONDO:subClassOf", source="OMIM:613705"} xref: UMLS:C1866070 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613705"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:613705"} ! orofacial cleft -is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate +is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12502 ! SUMO1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12502 {source="mim2gene_medgen"} ! SUMO1 @@ -266145,7 +266021,7 @@ xref: DOID:0080550 {source="MONDO:equivalentTo"} xref: OMIM:613707 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="MONDO:subClassOf", source="OMIM:613707"} xref: UMLS:C3150971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613707"} -is_a: MONDO:0007893 {source="MONDO:Redundant", source="OMIM:613707", source="ORDO:500/btnt"} ! Noonan syndrome with multiple lentigines +is_a: MONDO:0007893 {source="MONDO:Redundant", source="OMIM:613707", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1097 ! BRAF relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1097 {source="mim2gene_medgen"} ! BRAF @@ -266164,7 +266040,7 @@ xref: DOID:0070156 {source="MONDO:equivalentTo"} xref: OMIM:613708 {source="DOID:0070156", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:subClassOf", source="OMIM:613708"} xref: UMLS:C3150972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613708"} -is_a: MONDO:0018213 {source="DOID:0070156", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070156", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11231 {source="mim2gene_medgen"} ! ATL1 property_value: confidence "0.7993530796457187" xsd:double @@ -266179,7 +266055,7 @@ synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical, OMIM:613710] synonym: "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" EXACT [OMIM:613710, OMIM:genemap2] synonym: "THMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613710] -xref: OMIM:613710 {source="MONDO:equivalentTo", source="ORDO:217396/e", source="Orphanet:217396"} +xref: OMIM:613710 {source="Orphanet:217396/e", source="MONDO:equivalentTo", source="Orphanet:217396"} xref: Orphanet:217396 {source="OMIM:613710", source="MONDO:equivalentTo"} xref: UMLS:C3150973 {source="OMIM:613710", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000152 {source="DC-OMIM:613710", source="OMIM:613710"} ! thiamine-responsive dysfunction syndrome @@ -266260,8 +266136,7 @@ synonym: "autosomal recessive deafness 74" NARROW [DOID:0110523] synonym: "autosomal recessive nonsyndromic deafness 74" NARROW [OMIM:613718] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 74" NARROW [DOID:0110523, MONDORULE:2] -synonym: "deafness, autosomal recessive 74" NARROW [OMIM:613718, OMIM:genemap2] -synonym: "deafness, autosomal recessive 74" NARROW [MONDO:Lexical, OMIM:613718] +synonym: "deafness, autosomal recessive 74" NARROW [MONDO:Lexical, OMIM:613718, OMIM:genemap2] synonym: "deafness, autosomal recessive type 74" NARROW [MONDORULE:2, OMIM:613718] synonym: "DFNB74" NARROW ABBREVIATION [DOID:0110523, MONDO:Lexical, OMIM:613718] synonym: "MSRB3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -266294,8 +266169,8 @@ synonym: "KCNQ2-related epileptic encephalopathy" EXACT [Orphanet:439218] synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [Orphanet:439218] xref: DOID:0080462 {source="MONDO:equivalentTo"} xref: GARD:0013060 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G40.4 {source="Orphanet:439218", source="ORDO:439218/attributed", source="ORDO:439218/ntbt"} -xref: OMIM:613720 {source="Orphanet:439218", source="ORDO:439218/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.4 {source="Orphanet:439218", source="Orphanet:439218/attributed", source="Orphanet:439218/ntbt"} +xref: OMIM:613720 {source="Orphanet:439218", source="MONDO:equivalentTo", source="Orphanet:439218/e"} xref: Orphanet:439218 {source="MONDO:equivalentTo"} xref: UMLS:C3150986 {source="NCBI:mim2gene_medline", source="OMIM:613720", source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="DC-OMIM:613720", source="OMIM:613720"} ! developmental and epileptic encephalopathy @@ -266344,8 +266219,8 @@ xref: OMIM:613722 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="MONDO:subClassOf", source="OMIM:613722"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:613722"} xref: UMLS:C3150988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613722"} -is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:613722", source="MONDO:Redundant", source="OMIM:613722"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15917 ! PLCB1 @@ -266366,8 +266241,8 @@ synonym: "muscular dystrophy, limb-girdle, autosomal recessive 17" EXACT [OMIM:6 synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723] xref: DOID:0110285 {source="MONDO:equivalentTo"} xref: GARD:0012542 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110285", source="ORDO:254361/attributed", source="ORDO:254361/ntbt", source="Orphanet:254361"} -xref: OMIM:613723 {source="MONDO:equivalentTo", source="DOID:0110285", source="Orphanet:254361", source="ORDO:254361/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:254361/attributed", source="Orphanet:254361/ntbt", source="DOID:0110285", source="Orphanet:254361"} +xref: OMIM:613723 {source="Orphanet:254361/e", source="MONDO:equivalentTo", source="DOID:0110285", source="Orphanet:254361"} xref: Orphanet:254361 {source="MONDO:equivalentTo", source="OMIM:613723", source="DOID:0110285"} xref: UMLS:C3150989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613723"} is_a: MONDO:0015152 {source="DOID:0110285", source="OMIM:613723", source="Orphanet:254361"} ! autosomal recessive limb-girdle muscular dystrophy @@ -266388,8 +266263,8 @@ synonym: "LKDMN" RELATED ABBREVIATION [OMIM:613724] synonym: "SCP2 deficiency" EXACT [OMIM:613724] synonym: "sterol carrier protein 2 deficiency" EXACT CLINGEN_PREFERRED [Orphanet:163684] xref: GARD:0012471 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E75.2 {source="ORDO:163684/attributed", source="ORDO:163684/ntbt", source="Orphanet:163684"} -xref: OMIM:613724 {source="ORDO:163684/e", source="MONDO:equivalentTo", source="Orphanet:163684"} +xref: ICD10CM:E75.2 {source="Orphanet:163684", source="Orphanet:163684/attributed", source="Orphanet:163684/ntbt"} +xref: OMIM:613724 {source="MONDO:equivalentTo", source="Orphanet:163684", source="Orphanet:163684/e"} xref: Orphanet:163684 {source="MONDO:equivalentTo", source="OMIM:613724"} xref: UMLS:C3150990 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613724"} is_a: MONDO:0019046 {source="Orphanet:163684"} ! leukodystrophy @@ -266410,8 +266285,8 @@ synonym: "SCAR10" EXACT ABBREVIATION [DOID:0050999, MONDO:Lexical, OMIM:613728, synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728] synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:613728] xref: DOID:0050999 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.2 {source="ORDO:284289/attributed", source="ORDO:284289/ntbt", source="Orphanet:284289"} -xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="ORDO:284289/e", source="DOID:0050999"} +xref: ICD10CM:G11.2 {source="Orphanet:284289", source="Orphanet:284289/attributed", source="Orphanet:284289/ntbt"} +xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="DOID:0050999", source="Orphanet:284289/e"} xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"} xref: UMLS:C3150998 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613728"} is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia @@ -266430,8 +266305,8 @@ synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" EXACT [OMIM:61372 synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [OMIM:613729] synonym: "distal del(7)(q11.23)" EXACT [Orphanet:254351] synonym: "distal monosomy 7q11.23" EXACT [Orphanet:254351] -xref: ICD10CM:Q93.5 {source="Orphanet:254351", source="ORDO:254351/attributed", source="ORDO:254351/ntbt"} -xref: OMIM:613729 {source="Orphanet:254351", source="MONDO:equivalentTo", source="ORDO:254351/e"} +xref: ICD10CM:Q93.5 {source="Orphanet:254351", source="Orphanet:254351/attributed", source="Orphanet:254351/ntbt"} +xref: OMIM:613729 {source="Orphanet:254351", source="MONDO:equivalentTo", source="Orphanet:254351/e"} xref: Orphanet:254351 {source="MONDO:equivalentTo", source="OMIM:613729"} xref: UMLS:C3150999 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613729"} is_a: MONDO:0000761 {source="DC-OMIM:613729"} ! syndrome caused by partial chromosomal deletion @@ -266449,7 +266324,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:306547"} synonym: "HDBSCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613730] synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical, OMIM:613730] synonym: "porencephaly-microcephaly-bilateral congenital cataract syndrome" EXACT CLINGEN_PREFERRED [] -xref: OMIM:613730 {source="Orphanet:306547", source="ORDO:306547/e", source="MONDO:equivalentTo"} +xref: OMIM:613730 {source="Orphanet:306547", source="MONDO:equivalentTo", source="Orphanet:306547/e"} xref: Orphanet:306547 {source="OMIM:613730", source="MONDO:equivalentTo"} xref: UMLS:C3151000 {source="OMIM:613730", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:306547", source="Orphanet:306547/inferred"} ! genetic nervous system disorder @@ -266498,8 +266373,8 @@ synonym: "chromosome 1p32-p31 deletion syndrome" EXACT CLINGEN_PREFERRED [OMIM:6 synonym: "Del(1)(p31p32)" EXACT [Orphanet:401986] synonym: "monosomy 1p31p32" EXACT [Orphanet:401986] xref: DOID:0060409 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:401986", source="ORDO:401986/attributed", source="ORDO:401986/ntbt", source="DOID:0060409"} -xref: OMIM:613735 {source="ORDO:401986/e", source="Orphanet:401986", source="MONDO:equivalentTo", source="DOID:0060409"} +xref: ICD10CM:Q93.5 {source="Orphanet:401986/attributed", source="Orphanet:401986/ntbt", source="Orphanet:401986", source="DOID:0060409"} +xref: OMIM:613735 {source="Orphanet:401986", source="MONDO:equivalentTo", source="Orphanet:401986/e", source="DOID:0060409"} xref: Orphanet:401986 {source="MONDO:equivalentTo", source="OMIM:613735", source="DOID:0060409"} xref: SCTID:766766005 {source="MONDO:equivalentTo"} xref: UMLS:C3151036 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613735"} @@ -266572,10 +266447,10 @@ synonym: "p450scc deficiency" EXACT [DOID:0050546, OMIM:613743] synonym: "XY sex reversal-adrenal failure" EXACT [Orphanet:168558] synonym: "XY sex reversal-adrenal failure syndrome" EXACT [Orphanet:168558] xref: DOID:0050546 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q56.1 {source="ORDO:168558/attributed", source="ORDO:168558/ntbt", source="Orphanet:168558"} +xref: ICD10CM:Q56.1 {source="Orphanet:168558", source="Orphanet:168558/attributed", source="Orphanet:168558/ntbt"} xref: MESH:C566130 {source="MONDO:equivalentTo"} xref: NCIT:C131422 {source="MONDO:equivalentTo"} -xref: OMIM:613743 {source="DOID:0050546", source="MONDO:equivalentTo", source="Orphanet:168558", source="ORDO:168558/e"} +xref: OMIM:613743 {source="DOID:0050546", source="MONDO:equivalentTo", source="Orphanet:168558", source="Orphanet:168558/e"} xref: Orphanet:168558 {source="OMIM:613743", source="MONDO:equivalentTo"} xref: UMLS:C3151055 {source="OMIM:613743", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005151 ! endocrine system disorder @@ -266608,7 +266483,7 @@ xref: GARD:0010999 {source="MONDO:equivalentTo"} xref: OMIM:613744 {source="MONDO:equivalentTo", source="DOID:0110803"} xref: Orphanet:280763 {source="MONDO:subClassOf", source="DOID:0110803", source="OMIM:613744"} xref: UMLS:C3151056 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613744"} -is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia +is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110803", source="MONDO:Redundant", source="OMIM:613744", source="indirect"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/573 ! AP4E1 @@ -266664,8 +266539,8 @@ synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" R synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039] xref: DOID:0111039 {source="MONDO:equivalentTo"} xref: GARD:0013177 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E72.1 {source="DOID:0111039", source="ORDO:88618/attributed", source="ORDO:88618/ntbt", source="Orphanet:88618"} -xref: OMIM:613752 {source="DOID:0111039", source="MONDO:equivalentTo", source="ORDO:88618/e", source="Orphanet:88618"} +xref: ICD10CM:E72.1 {source="DOID:0111039", source="Orphanet:88618", source="Orphanet:88618/attributed", source="Orphanet:88618/ntbt"} +xref: OMIM:613752 {source="DOID:0111039", source="MONDO:equivalentTo", source="Orphanet:88618", source="Orphanet:88618/e"} xref: Orphanet:88618 {source="DOID:0111039", source="OMIM:613752", source="MONDO:equivalentTo"} xref: SCTID:724039002 {source="MONDO:equivalentTo"} xref: UMLS:C3151058 {source="OMIM:613752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88618"} @@ -266743,7 +266618,7 @@ synonym: "Fadd deficiency" RELATED [OMIM:613759] synonym: "FADD-related immunodeficiency" EXACT CLINGEN_PREFERRED [] synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759, OMIM:genemap2] synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759] -xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="ORDO:306550/e"} +xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="Orphanet:306550/e"} xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"} xref: SCTID:723334006 {source="MONDO:equivalentTo"} xref: UMLS:C3151062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613759"} @@ -266790,8 +266665,8 @@ xref: OMIM:613762 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:613762"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:613762"} xref: UMLS:C3151064 {source="OMIM:613762", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010765 {source="OMIM:613762", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0010765 {source="OMIM:613762", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6848 {source="mim2gene_medgen"} ! MAP3K1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -266819,9 +266694,9 @@ xref: UMLS:C0266537 {source="OMIM:613763", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C3151065 {source="OMIM:613763", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3808377 {source="OMIM:613763", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110250", source="MESH:C565134", source="MONDO:Redundant", source="OMIM:613763", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract -is_a: MONDO:0020379 {source="ORDO:98995/btnt"} ! early-onset zonular cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract +is_a: MONDO:0020379 {source="Orphanet:98995/btnt"} ! early-onset zonular cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2389 ! CRYAB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2389 {source="mim2gene_medgen"} ! CRYAB @@ -266933,10 +266808,10 @@ synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779] synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern] synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779] xref: DOID:8354 {source="MONDO:equivalentTo"} -xref: ICD10CM:D84.1 {source="ORDO:280133/attributed", source="ORDO:280133/ntbt", source="Orphanet:280133"} +xref: ICD10CM:D84.1 {source="Orphanet:280133", source="Orphanet:280133/attributed", source="Orphanet:280133/ntbt"} xref: MESH:C565169 {source="MONDO:equivalentTo"} xref: NCIT:C9468 {source="MONDO:equivalentTo", source="DOID:8354"} -xref: OMIM:613779 {source="MONDO:equivalentTo", source="Orphanet:280133", source="ORDO:280133/e", source="DOID:8354"} +xref: OMIM:613779 {source="MONDO:equivalentTo", source="Orphanet:280133", source="DOID:8354", source="Orphanet:280133/e"} xref: Orphanet:280133 {source="MONDO:equivalentTo", source="OMIM:613779", source="DOID:8354"} xref: UMLS:C1332655 {source="NCIT:C9468", source="MONDO:equivalentTo", source="DOID:8354"} xref: UMLS:C3151071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:280133", source="OMIM:613779"} @@ -266957,7 +266832,7 @@ synonym: "aortic dissection, familial, with or without aortic aneurysm" RELATED xref: OMIM:613780 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:613780"} xref: UMLS:C3151077 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613780"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:613780", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:613780", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7590 ! MYLK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7590 {source="mim2gene_medgen"} ! MYLK @@ -266975,7 +266850,7 @@ xref: OMIM:613783 {source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="MONDO:subClassOf", source="OMIM:613783"} xref: UMLS:C3151078 {source="OMIM:613783", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000015 {source="DC-OMIM:613783"} ! classic complement early component deficiency -is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency +is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1247 {source="mim2gene_medgen"} ! C1S property_value: confidence "1.1504873407530516" xsd:double @@ -267026,7 +266901,7 @@ xref: OMIM:613789 {source="MONDO:equivalentTo", source="DOID:0060302"} xref: Orphanet:169150 {source="MONDO:subClassOf", source="OMIM:613789", source="DOID:0060302"} xref: UMLS:C3151080 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613789"} is_a: MONDO:0000015 {source="DC-OMIM:613789", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency +is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1353 ! C8B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1353 {source="mim2gene_medgen"} ! C8B @@ -267060,7 +266935,7 @@ xref: OMIM:613790 {source="DOID:0060301", source="MONDO:equivalentTo"} xref: Orphanet:169150 {source="MONDO:subClassOf", source="DOID:0060301", source="OMIM:613790"} xref: UMLS:C3151081 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613790"} is_a: MONDO:0000015 {source="DC-OMIM:613790", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency +is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1352 ! C8A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1352 {source="mim2gene_medgen"} ! C8A @@ -267076,9 +266951,9 @@ subset: ordo_disease {source="Orphanet:331187"} synonym: "immunodeficiency due to MASP-2 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "lectin complement activation pathway, defect in, 2" RELATED [OMIM:613791] synonym: "MASP2 deficiency" RELATED [OMIM:613791] -xref: ICD10CM:D84.1 {source="Orphanet:331187", source="ORDO:331187/attributed", source="ORDO:331187/ntbt"} +xref: ICD10CM:D84.1 {source="Orphanet:331187", source="Orphanet:331187/attributed", source="Orphanet:331187/ntbt"} xref: MESH:C565360 {source="MONDO:equivalentTo"} -xref: OMIM:613791 {source="Orphanet:331187", source="ORDO:331187/e", source="MONDO:equivalentTo"} +xref: OMIM:613791 {source="Orphanet:331187", source="MONDO:equivalentTo", source="Orphanet:331187/e"} xref: Orphanet:331187 {source="MONDO:equivalentTo", source="OMIM:613791"} xref: UMLS:C3151085 {source="Orphanet:331187", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613791"} is_a: MONDO:0003832 {source="Orphanet:331187", source="indirect"} ! complement deficiency @@ -267113,10 +266988,10 @@ synonym: "telomeric monosomy 3p" EXACT [Orphanet:1620] xref: DOID:0060417 {source="MONDO:equivalentTo"} xref: GARD:0000037 {source="MONDO:equivalentTo"} xref: GARD:0003750 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:1620", source="ORDO:1620/attributed", source="ORDO:1620/ntbt", source="DOID:0060417"} +xref: ICD10CM:Q93.5 {source="Orphanet:1620/attributed", source="Orphanet:1620/ntbt", source="Orphanet:1620", source="DOID:0060417"} xref: MESH:C536804 {source="MONDO:equivalentTo"} xref: NCIT:C41377 {source="MONDO:equivalentTo"} -xref: OMIM:613792 {source="Orphanet:1620", source="ORDO:1620/e", source="MONDO:equivalentTo", source="DOID:0060417"} +xref: OMIM:613792 {source="Orphanet:1620", source="MONDO:equivalentTo", source="DOID:0060417", source="Orphanet:1620/e"} xref: Orphanet:1620 {source="MONDO:equivalentTo", source="DOID:0060417", source="OMIM:613792"} xref: SCTID:763528002 {source="MONDO:equivalentTo"} xref: UMLS:C0795806 {source="GARD:0000037", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613792"} @@ -267171,7 +267046,7 @@ synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [OMIM:6137 synonym: "Loeys-Dietz syndrome, type 3" RELATED [GARD:0010997] xref: DOID:0070237 {source="MONDO:equivalentTo"} xref: GARD:0010997 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:613795 {source="MONDO:equivalentTo", source="Orphanet:284984", source="ORDO:284984/e"} +xref: OMIM:613795 {source="MONDO:equivalentTo", source="Orphanet:284984", source="Orphanet:284984/e"} xref: Orphanet:284984 {source="OMIM:613795", source="MONDO:equivalentTo"} xref: UMLS:C3151087 {source="OMIM:613795", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005385 ! vascular disorder @@ -267193,8 +267068,8 @@ synonym: "immunodeficiency type 31B" EXACT [MONDORULE:4, OMIM:613796] synonym: "STAT1 deficiency" EXACT [Orphanet:391311] synonym: "Stat1 deficiency, autosomal recessive" RELATED [OMIM:613796] synonym: "susceptibility to viral and mycobacterial infections" BROAD [Orphanet:391311] -xref: ICD10CM:D84.8 {source="ORDO:391311/attributed", source="ORDO:391311/ntbt", source="Orphanet:391311"} -xref: OMIM:613796 {source="MONDO:equivalentTo", source="ORDO:391311/e", source="Orphanet:391311"} +xref: ICD10CM:D84.8 {source="Orphanet:391311/attributed", source="Orphanet:391311/ntbt", source="Orphanet:391311"} +xref: OMIM:613796 {source="Orphanet:391311/e", source="MONDO:equivalentTo", source="Orphanet:391311"} xref: Orphanet:391311 {source="OMIM:613796", source="MONDO:equivalentTo"} xref: UMLS:C3151088 {source="OMIM:613796", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015979 {source="Orphanet:391311"} ! hereditary predisposition to infections @@ -267316,14 +267191,14 @@ synonym: "cholangitis, primary sclerosing" RELATED [MONDO:Lexical, OMIM:613806] synonym: "PSC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613806, Orphanet:171] xref: DOID:0060643 {source="MONDO:equivalentTo"} xref: GARD:0001280 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K83.0 {source="MONDO:subClassOf", source="ORDO:171/ntbt", source="Orphanet:171", source="DOID:0060643"} -xref: MedDRA:10036732 {source="ORDO:171/e", source="Orphanet:171"} -xref: MESH:C536419 {source="ORDO:171/e", source="Orphanet:171"} -xref: OMIM:602114 {source="ORDO:171/btnt", source="Orphanet:171", source="MONDO:superClassOf"} -xref: OMIM:613806 {source="ORDO:171/e", source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643"} +xref: ICD10CM:K83.0 {source="MONDO:subClassOf", source="Orphanet:171", source="DOID:0060643", source="Orphanet:171/ntbt"} +xref: MedDRA:10036732 {source="Orphanet:171", source="Orphanet:171/e"} +xref: MESH:C536419 {source="Orphanet:171", source="Orphanet:171/e"} +xref: OMIM:602114 {source="Orphanet:171", source="MONDO:superClassOf", source="Orphanet:171/btnt"} +xref: OMIM:613806 {source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643", source="Orphanet:171/e"} xref: Orphanet:171 {source="MONDO:equivalentTo", source="DOID:0060643", source="OMIM:613806"} xref: SCTID:197441003 {source="MONDO:equivalentTo"} -xref: UMLS:C0566602 {source="NCBI:mim2gene_medline", source="ORDO:171/e", source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643", source="OMIM:613806"} +xref: UMLS:C0566602 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643", source="OMIM:613806", source="Orphanet:171/e"} is_a: MONDO:0018646 {source="DOID:0060643", source="Orphanet:171", source="linkedlifedata"} ! sclerosing cholangitis property_value: confidence "15.500000000000014" xsd:double @@ -267424,7 +267299,7 @@ xref: ICD10CM:Q04.3 {source="DOID:0060270"} xref: OMIM:613811 {source="MONDO:equivalentTo", source="DOID:0060270"} xref: Orphanet:2524 {source="MONDO:subClassOf", source="OMIM:613811", source="DOID:0060270"} xref: UMLS:C3151140 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613811"} -is_a: MONDO:0016759 {source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060270", source="MONDO:Redundant", source="OMIM:613811", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30605 ! SEPSECS @@ -267445,12 +267320,12 @@ synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MON synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302] xref: DOID:0111070 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="DOID:0111070", source="ORDO:79302/attributed", source="ORDO:79302/ntbt", source="Orphanet:79302"} -xref: MESH:C566340 {source="DOID:0111070", source="MONDO:equivalentTo", source="ORDO:79302/e", source="Orphanet:79302"} -xref: OMIM:613812 {source="DOID:0111070", source="MONDO:equivalentTo", source="ORDO:79302/e", source="Orphanet:79302"} +xref: ICD10CM:K76.8 {source="DOID:0111070", source="Orphanet:79302/attributed", source="Orphanet:79302/ntbt", source="Orphanet:79302"} +xref: MESH:C566340 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"} +xref: OMIM:613812 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"} xref: Orphanet:79302 {source="DOID:0111070", source="MONDO:equivalentTo", source="OMIM:613812"} xref: SCTID:719454003 {source="MONDO:equivalentTo"} -xref: UMLS:C3151147 {source="DOID:0111070", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613812", source="ORDO:79302/e", source="Orphanet:79302"} +xref: UMLS:C3151147 {source="DOID:0111070", source="Orphanet:79302/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613812", source="Orphanet:79302"} xref: UMLS:C4304715 {source="MONDO:equivalentTo"} is_a: MONDO:0018841 {source="DC-OMIM:613812", source="DOID:0111070", source="MONDO:Redundant", source="OMIM:613812", source="Orphanet:79302"} ! congenital bile acid synthesis defect intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect @@ -267477,8 +267352,8 @@ synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [OMIM:613818] xref: DOID:0110293 {source="MONDO:equivalentTo"} xref: GARD:0012541 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:280333/attributed", source="ORDO:280333/ntbt", source="DOID:0110293", source="Orphanet:280333"} -xref: OMIM:613818 {source="DOID:0110293", source="MONDO:equivalentTo", source="Orphanet:280333", source="ORDO:280333/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110293", source="Orphanet:280333", source="Orphanet:280333/attributed", source="Orphanet:280333/ntbt"} +xref: OMIM:613818 {source="Orphanet:280333/e", source="DOID:0110293", source="MONDO:equivalentTo", source="Orphanet:280333"} xref: Orphanet:280333 {source="DOID:0110293", source="MONDO:equivalentTo", source="OMIM:613818"} xref: UMLS:C3151184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613818"} is_a: MONDO:0000173 {source="DC-OMIM:613818", source="OMIM:613818"} ! muscular dystrophy-dystroglycanopathy, type C @@ -267587,7 +267462,7 @@ xref: OMIM:613825 {source="DOID:0060303", source="MONDO:equivalentTo"} xref: Orphanet:169150 {source="MONDO:subClassOf", source="DOID:0060303", source="OMIM:613825"} xref: UMLS:C3151189 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613825"} is_a: MONDO:0000015 {source="DC-OMIM:613825", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency +is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1358 ! C9 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1358 {source="mim2gene_medgen"} ! C9 @@ -267710,8 +267585,8 @@ synonym: "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneury synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834] synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [OMIM:613834] xref: GARD:0012811 {source="MONDO:equivalentTo"} -xref: ICD10CM:I73.8 {source="ORDO:404463/attributed", source="ORDO:404463/ntbt", source="Orphanet:404463"} -xref: OMIM:613834 {source="MONDO:equivalentTo", source="Orphanet:404463", source="ORDO:404463/e"} +xref: ICD10CM:I73.8 {source="Orphanet:404463", source="Orphanet:404463/attributed", source="Orphanet:404463/ntbt"} +xref: OMIM:613834 {source="Orphanet:404463/e", source="MONDO:equivalentTo", source="Orphanet:404463"} xref: Orphanet:404463 {source="MONDO:equivalentTo", source="OMIM:613834"} xref: UMLS:C3151201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613834"} is_a: MONDO:0005385 ! vascular disorder @@ -267805,9 +267680,9 @@ synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651] synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651] synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839] xref: GARD:0011000 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D52.8 {source="ORDO:319651/attributed", source="ORDO:319651/ntbt", source="Orphanet:319651"} +xref: ICD10CM:D52.8 {source="Orphanet:319651", source="Orphanet:319651/attributed", source="Orphanet:319651/ntbt"} xref: MESH:C565095 {source="MONDO:equivalentTo"} -xref: OMIM:613839 {source="MONDO:equivalentTo", source="Orphanet:319651", source="ORDO:319651/e"} +xref: OMIM:613839 {source="MONDO:equivalentTo", source="Orphanet:319651", source="Orphanet:319651/e"} xref: Orphanet:319651 {source="MONDO:equivalentTo", source="OMIM:613839"} xref: SCTID:124178006 {source="MONDO:equivalentTo"} xref: UMLS:C3151205 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:319651", source="OMIM:613839"} @@ -267849,8 +267724,8 @@ synonym: "Hupra syndrome" RELATED [OMIM:613845] synonym: "HUPRAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613845] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" EXACT [OMIM:613845, OMIM:genemap2] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical, OMIM:613845] -xref: ICD10CM:N15.8 {source="Orphanet:363694", source="ORDO:363694/attributed", source="ORDO:363694/ntbt"} -xref: OMIM:613845 {source="Orphanet:363694", source="ORDO:363694/e", source="MONDO:equivalentTo"} +xref: ICD10CM:N15.8 {source="Orphanet:363694", source="Orphanet:363694/attributed", source="Orphanet:363694/ntbt"} +xref: OMIM:613845 {source="Orphanet:363694", source="MONDO:equivalentTo", source="Orphanet:363694/e"} xref: Orphanet:363694 {source="MONDO:equivalentTo", source="OMIM:613845"} xref: UMLS:C3151209 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613845"} is_a: MONDO:0005149 {source="MONDO:0017159-obsoleted"} ! pulmonary hypertension @@ -267911,7 +267786,6 @@ id: MONDO:0013461 name: inosine triphosphatase deficiency def: "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." [NCIT:C129974] synonym: "inosine triphosphatase deficiency" EXACT [OMIM:613850, OMIM:genemap2] -synonym: "inosine triphosphatase deficiency" EXACT [OMIM:613850] synonym: "inosine triphosphate pyrophosphohydrolase deficiency" RELATED [OMIM:613850] xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564127 {source="MONDO:equivalentTo"} @@ -267929,7 +267803,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 id: MONDO:0013462 name: fucosyltransferase 6 deficiency synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852, OMIM:genemap2] -synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852] xref: OMIM:613852 {source="MONDO:equivalentTo"} xref: UMLS:C3151219 {source="NCBI:mim2gene_medline", source="OMIM:613852", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease @@ -267970,9 +267843,9 @@ synonym: "EA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613855] synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855] synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern] xref: DOID:0050993 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="Orphanet:211067", source="ORDO:211067/attributed", source="ORDO:211067/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:211067", source="Orphanet:211067/attributed", source="Orphanet:211067/ntbt"} xref: MESH:C566601 {source="MONDO:equivalentTo"} -xref: OMIM:613855 {source="Orphanet:211067", source="ORDO:211067/e", source="DOID:0050993", source="MONDO:equivalentTo"} +xref: OMIM:613855 {source="Orphanet:211067", source="DOID:0050993", source="MONDO:equivalentTo", source="Orphanet:211067/e"} xref: Orphanet:211067 {source="MONDO:equivalentTo", source="OMIM:613855"} xref: SCTID:718756005 {source="MONDO:equivalentTo"} xref: UMLS:C1866039 {source="Orphanet:211067", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613855"} @@ -268022,8 +267895,8 @@ synonym: "Fcn3 deficiency" RELATED [OMIM:613860] synonym: "ficolin 3 deficiency" RELATED [OMIM:613860] synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [OMIM:613860] synonym: "lectin complement activation pathway, defect in, 3" RELATED [OMIM:613860] -xref: ICD10CM:D84.1 {source="ORDO:331190/attributed", source="ORDO:331190/ntbt", source="Orphanet:331190"} -xref: OMIM:613860 {source="MONDO:equivalentTo", source="Orphanet:331190", source="ORDO:331190/e"} +xref: ICD10CM:D84.1 {source="Orphanet:331190", source="Orphanet:331190/attributed", source="Orphanet:331190/ntbt"} +xref: OMIM:613860 {source="MONDO:equivalentTo", source="Orphanet:331190", source="Orphanet:331190/e"} xref: Orphanet:331190 {source="OMIM:613860", source="MONDO:equivalentTo"} xref: SCTID:766705006 {source="MONDO:equivalentTo"} xref: UMLS:C3151226 {source="OMIM:613860", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -268102,8 +267975,7 @@ synonym: "autosomal recessive deafness 61" NARROW [DOID:0110513] synonym: "autosomal recessive nonsyndromic deafness 61" NARROW [OMIM:613865] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 61" NARROW [DOID:0110513, MONDORULE:2] -synonym: "deafness, autosomal recessive 61" NARROW [OMIM:613865, OMIM:genemap2] -synonym: "deafness, autosomal recessive 61" NARROW [MONDO:Lexical, OMIM:613865] +synonym: "deafness, autosomal recessive 61" NARROW [MONDO:Lexical, OMIM:613865, OMIM:genemap2] synonym: "deafness, autosomal recessive type 61" NARROW [MONDORULE:2, OMIM:613865] synonym: "DFNB61" NARROW ABBREVIATION [DOID:0110513, MONDO:Lexical, OMIM:613865] synonym: "SLC26A5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -268128,8 +268000,8 @@ synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [ synonym: "myofibrillar myopathy type 7" RELATED [DOID:0080098] synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869] xref: DOID:0080309 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:280553/attributed", source="ORDO:280553/ntbt", source="Orphanet:280553"} -xref: OMIM:613869 {source="MONDO:equivalentTo", source="Orphanet:280553", source="ORDO:280553/e", source="DOID:0080309"} +xref: ICD10CM:G71.2 {source="Orphanet:280553", source="Orphanet:280553/attributed", source="Orphanet:280553/ntbt"} +xref: OMIM:613869 {source="Orphanet:280553/e", source="MONDO:equivalentTo", source="Orphanet:280553", source="DOID:0080309"} xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"} xref: UMLS:C3151236 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613869"} is_a: MONDO:0018779 {source="Orphanet:280553"} ! hypercontractile muscle stiffness syndrome @@ -268254,8 +268126,8 @@ synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical, OMIM: synonym: "PLIN1-related FPLD" EXACT [Orphanet:280356] xref: DOID:0070205 {source="MONDO:equivalentTo"} xref: GARD:0012601 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.1 {source="ORDO:280356/attributed", source="ORDO:280356/ntbt", source="Orphanet:280356"} -xref: OMIM:613877 {source="MONDO:equivalentTo", source="ORDO:280356/e", source="Orphanet:280356"} +xref: ICD10CM:E88.1 {source="Orphanet:280356/attributed", source="Orphanet:280356/ntbt", source="Orphanet:280356"} +xref: OMIM:613877 {source="Orphanet:280356/e", source="MONDO:equivalentTo", source="Orphanet:280356"} xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"} xref: UMLS:C3151268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613877"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus @@ -268300,7 +268172,7 @@ xref: OMIM:613882 {source="DOID:0060884", source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="MONDO:subClassOf", source="OMIM:613882", source="DOID:0060884"} xref: UMLS:C3151295 {source="OMIM:613882", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018100 {source="DOID:0060884", source="MONDO:Redundant", source="OMIM:613882", source="indirect"} ! familial primary hypomagnesemia -is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia +is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/103 {source="mim2gene_medgen"} ! CNNM2 property_value: confidence "5.000000000000001" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 xsd:anyURI {source="GARD:0012155"} @@ -268319,10 +268191,10 @@ synonym: "deletion 13q14" EXACT [DOID:0060391, Orphanet:1587] synonym: "monosomy 13q14" RELATED [Orphanet:1587] synonym: "monosomy type 13q14" EXACT [MONDORULE:7, Orphanet:1587] xref: DOID:0060391 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:1587", source="ORDO:1587/attributed", source="ORDO:1587/ntbt", source="DOID:0060391"} +xref: ICD10CM:Q93.5 {source="Orphanet:1587/attributed", source="Orphanet:1587/ntbt", source="Orphanet:1587", source="DOID:0060391"} xref: MESH:C535484 {source="MONDO:equivalentTo"} xref: NCIT:C36421 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} -xref: OMIM:613884 {source="Orphanet:1587", source="ORDO:1587/e", source="MONDO:equivalentTo", source="DOID:0060391"} +xref: OMIM:613884 {source="Orphanet:1587", source="MONDO:equivalentTo", source="Orphanet:1587/e", source="DOID:0060391"} xref: Orphanet:1587 {source="OMIM:613884", source="MONDO:equivalentTo", source="DOID:0060391"} xref: UMLS:C0265451 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3151302 {source="OMIM:613884", source="MONDO:notFoundInDiseaseSubset"} @@ -268401,8 +268273,8 @@ synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical, OMIM:613908] synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908] xref: DOID:0050982 {source="MONDO:equivalentTo"} xref: GARD:0012366 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:276193/attributed", source="ORDO:276193/ntbt", source="Orphanet:276193"} -xref: OMIM:613908 {source="DOID:0050982", source="MONDO:equivalentTo", source="ORDO:276193/e", source="Orphanet:276193"} +xref: ICD10CM:G11.8 {source="Orphanet:276193/attributed", source="Orphanet:276193/ntbt", source="Orphanet:276193"} +xref: OMIM:613908 {source="DOID:0050982", source="Orphanet:276193/e", source="MONDO:equivalentTo", source="Orphanet:276193"} xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"} xref: SCTID:719300001 {source="MONDO:equivalentTo"} xref: UMLS:C1539956 {source="OMIM:613908", source="MONDO:notFoundInDiseaseSubset"} @@ -268421,8 +268293,8 @@ subset: ordo_disease {source="Orphanet:276183"} synonym: "cerebellar ataxia with azoospermia and intellectual disability" EXACT [Orphanet:276183] synonym: "SCA32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613909, Orphanet:276183] synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909] -xref: ICD10CM:G11.8 {source="Orphanet:276183", source="ORDO:276183/attributed", source="ORDO:276183/ntbt"} -xref: OMIM:613909 {source="MONDO:equivalentTo", source="Orphanet:276183", source="ORDO:276183/e"} +xref: ICD10CM:G11.8 {source="Orphanet:276183/attributed", source="Orphanet:276183/ntbt", source="Orphanet:276183"} +xref: OMIM:613909 {source="Orphanet:276183/e", source="MONDO:equivalentTo", source="Orphanet:276183"} xref: Orphanet:276183 {source="OMIM:613909", source="MONDO:equivalentTo"} xref: SCTID:719254001 {source="MONDO:equivalentTo"} xref: UMLS:C3151343 {source="OMIM:613909", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -268438,10 +268310,10 @@ synonym: "CFDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613912] synonym: "complement factor D deficiency" RELATED [MONDO:Lexical, OMIM:613912] synonym: "factor D deficiency" RELATED [OMIM:613912] synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:D84.1 {source="Orphanet:169467", source="ORDO:169467/attributed", source="ORDO:169467/ntbt"} +xref: ICD10CM:D84.1 {source="Orphanet:169467", source="Orphanet:169467/attributed", source="Orphanet:169467/ntbt"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565027 {source="MONDO:equivalentTo"} -xref: OMIM:613912 {source="Orphanet:169467", source="ORDO:169467/e", source="MONDO:equivalentTo"} +xref: OMIM:613912 {source="Orphanet:169467", source="MONDO:equivalentTo", source="Orphanet:169467/e"} xref: Orphanet:169467 {source="MONDO:equivalentTo", source="OMIM:613912"} xref: SCTID:234607008 {source="MONDO:equivalentTo"} xref: UMLS:C0398764 {source="Orphanet:169467", source="MONDO:equivalentTo", source="OMIM:613912"} @@ -268469,8 +268341,7 @@ synonym: "autosomal recessive deafness 89" NARROW [DOID:0110534] synonym: "autosomal recessive nonsyndromic deafness 89" NARROW CLINGEN_PREFERRED [OMIM:613916] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in KARS" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 89" NARROW [DOID:0110534, MONDORULE:2] -synonym: "deafness, autosomal recessive 89" NARROW [MONDO:Lexical, OMIM:613916] -synonym: "deafness, autosomal recessive 89" NARROW [OMIM:613916, OMIM:genemap2] +synonym: "deafness, autosomal recessive 89" NARROW [MONDO:Lexical, OMIM:613916, OMIM:genemap2] synonym: "deafness, autosomal recessive type 89" NARROW [MONDORULE:2, OMIM:613916] synonym: "DFNB89" NARROW ABBREVIATION [DOID:0110534, MONDO:Lexical, OMIM:613916] synonym: "KARS autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -268497,7 +268368,7 @@ xref: OMIM:613925 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="MONDO:subClassOf", source="OMIM:613925"} xref: UMLS:C3151355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613925"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613925", source="indirect"} ! leukoencephalopathy, megalencephalic -is_a: MONDO:0011391 {source="ORDO:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts +is_a: MONDO:0011391 {source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26361 {source="mim2gene_medgen"} ! HEPACAM property_value: confidence "2.069473684210526" xsd:double @@ -268512,7 +268383,7 @@ xref: OMIM:613926 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="MONDO:subClassOf", source="OMIM:613926"} xref: UMLS:C3151356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613926"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613926", source="indirect"} ! leukoencephalopathy, megalencephalic -is_a: MONDO:0011391 {source="ORDO:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts +is_a: MONDO:0011391 {source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26361 {source="mim2gene_medgen"} ! HEPACAM property_value: confidence "2.069473684210526" xsd:double @@ -268569,7 +268440,7 @@ xref: Orphanet:313 {source="MONDO:subClassOf", source="OMIM:613943"} xref: UMLS:C3151377 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3553029 {source="OMIM:613943", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:613943"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0017778 {source="ORDO:313/btnt"} ! lamellar ichthyosis +is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23452 ! LIPN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23452 {source="mim2gene_medgen"} ! LIPN @@ -268673,7 +268544,7 @@ xref: Orphanet:275872 {source="MONDO:subClassOf", source="OMIM:613954"} xref: Orphanet:803 {source="MONDO:subClassOf", source="OMIM:613954"} xref: UMLS:C3151403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613954"} is_a: MONDO:0005144 {source="DOID:0060205", source="MONDO:Redundant", source="OMIM:613954", source="indirect"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="ORDO:275872/btnt"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:613954"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12666 ! VCP @@ -268689,7 +268560,7 @@ synonym: "PLCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613955] xref: OMIM:613955 {source="MONDO:equivalentTo"} xref: Orphanet:353220 {source="MONDO:subClassOf", source="OMIM:613955"} xref: UMLS:C3151404 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613955"} -is_a: MONDO:0007101 {source="MONDO:Redundant", source="ORDO:353220/btnt"} ! familial primary localized cutaneous amyloidosis +is_a: MONDO:0007101 {source="MONDO:Redundant", source="Orphanet:353220/btnt"} ! familial primary localized cutaneous amyloidosis intersection_of: MONDO:0007101 ! familial primary localized cutaneous amyloidosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18969 ! IL31RA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18969 {source="mim2gene_medgen"} ! IL31RA @@ -268729,7 +268600,7 @@ xref: OMIM:613957 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="MONDO:subClassOf", source="OMIM:613957"} xref: UMLS:C3151406 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613957"} is_a: MONDO:0004983 {source="DC-OMIM:613957", source="MONDO:Redundant", source="OMIM:613957"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 ! NR5A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 {source="mim2gene_medgen"} ! NR5A1 @@ -268752,7 +268623,7 @@ xref: Orphanet:171709 {source="MONDO:subClassOf", source="OMIM:613958"} xref: Orphanet:399808 {source="MONDO:subClassOf", source="OMIM:613958"} xref: UMLS:C3151407 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613958"} is_a: MONDO:0004983 {source="DC-OMIM:613958", source="MONDO:Redundant", source="OMIM:613958"} ! azoospermia -is_a: MONDO:0015746 {source="ORDO:171709/btnt"} ! male infertility due to globozoospermia +is_a: MONDO:0015746 {source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 ! DPY19L2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 {source="mim2gene_medgen"} ! DPY19L2 @@ -268842,7 +268713,7 @@ synonym: "susceptibility to cutaneous malignant melanoma 6" RELATED [OMIM:613972 xref: OMIM:613972 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:613972"} xref: UMLS:C3151417 {source="OMIM:613972", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018961 {source="MONDO:Redundant", source="ORDO:618/btnt", source="indirect"} ! familial melanoma +is_a: MONDO:0018961 {source="MONDO:Redundant", source="Orphanet:618/btnt", source="indirect"} ! familial melanoma is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:613972"} ! familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12830 ! XRCC3 @@ -268879,16 +268750,16 @@ synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031] synonym: "hemoglobin H disease, deletional and nondeletional" EXACT [OMIM:613978, OMIM:genemap2] synonym: "Hemoglobin H disease, Nondeletional" RELATED [OMIM:613978] xref: DOID:0110031 {source="MONDO:equivalentTo"} -xref: ICD10CM:D56.0 {source="MONDO:subClassOf", source="ORDO:93616/attributed", source="ORDO:93616/ntbt", source="DOID:0110031", source="Orphanet:93616"} +xref: ICD10CM:D56.0 {source="MONDO:subClassOf", source="DOID:0110031", source="Orphanet:93616/attributed", source="Orphanet:93616/ntbt", source="Orphanet:93616"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063435 {source="ORDO:93616/e", source="Orphanet:93616"} +xref: MedDRA:10063435 {source="Orphanet:93616/e", source="Orphanet:93616"} xref: NCIT:C95504 {source="MONDO:equivalentTo"} -xref: OMIM:613978 {source="MONDO:equivalentTo", source="DOID:0110031", source="ORDO:93616/e", source="Orphanet:93616"} +xref: OMIM:613978 {source="Orphanet:93616/e", source="MONDO:equivalentTo", source="DOID:0110031", source="Orphanet:93616"} xref: Orphanet:93616 {source="MONDO:equivalentTo", source="DOID:0110031", source="OMIM:613978"} xref: SCTID:48553001 {source="MONDO:equivalentTo"} xref: UMLS:C0002312 {source="MONDO:subClassOf", source="Orphanet:93616"} xref: UMLS:C1260396 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93616"} -xref: UMLS:C3161174 {source="NCIT:C95504", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613978", source="ORDO:93616/e", source="Orphanet:93616"} +xref: UMLS:C3161174 {source="NCIT:C95504", source="Orphanet:93616/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613978", source="Orphanet:93616"} xref: UMLS:C3279561 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613978"} is_a: MONDO:0011399 {source="DOID:0110031", source="NCIT:C95504", source="Orphanet:93616", source="linkedlifedata"} ! alpha thalassemia relationship: disease_has_feature MONDO:0019844 {source="Orphanet:93616"} ! pituitary hormone deficiency secondary to storage disease @@ -268929,7 +268800,7 @@ xref: OMIM:613981 {source="DOID:0110700", source="MONDO:equivalentTo"} xref: Orphanet:90368 {source="MONDO:subClassOf", source="OMIM:613981"} xref: UMLS:C3151432 {source="OMIM:613981", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110700", source="MONDO:Redundant", source="OMIM:613981", source="indirect"} ! hypotrichosis -is_a: MONDO:0019575 {source="ORDO:90368/btnt"} ! hypotrichosis simplex of the scalp +is_a: MONDO:0019575 {source="Orphanet:90368/btnt"} ! hypotrichosis simplex of the scalp intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28929 ! KRT74 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28929 {source="mim2gene_medgen"} ! KRT74 @@ -269011,7 +268882,7 @@ synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1, OM xref: OMIM:613986 {source="MONDO:equivalentTo"} xref: Orphanet:95494 {source="MONDO:subClassOf", source="OMIM:613986"} xref: UMLS:C3151440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613986"} -is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613986", source="ORDO:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form +is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613986", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8522 ! OTX2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8522 {source="mim2gene_medgen"} ! OTX2 @@ -269105,8 +268976,8 @@ synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576] synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008] synonym: "PSCOO" RELATED ABBREVIATION [GARD:0011008] xref: GARD:0011008 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.8 {source="ORDO:280576/attributed", source="ORDO:280576/ntbt", source="Orphanet:280576"} -xref: OMIM:614008 {source="MONDO:equivalentTo", source="ORDO:280576/e", source="Orphanet:280576"} +xref: ICD10CM:E34.8 {source="Orphanet:280576/attributed", source="Orphanet:280576/ntbt", source="Orphanet:280576"} +xref: OMIM:614008 {source="Orphanet:280576/e", source="MONDO:equivalentTo", source="Orphanet:280576"} xref: Orphanet:280576 {source="MONDO:equivalentTo", source="OMIM:614008"} xref: UMLS:C3151446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614008"} is_a: MONDO:0015333 {source="MONDO:Redundant", source="Orphanet:280576", source="indirect"} ! progeroid syndrome @@ -269127,8 +268998,8 @@ synonym: "BDPLT13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614009] synonym: "bleeding disorder, platelet-type, 13, susceptibility to" RELATED [MONDO:Lexical, OMIM:614009] synonym: "bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor" RELATED [OMIM:614009] synonym: "susceptibility to platelet-type bleeding disorder 13" RELATED [OMIM:614009] -xref: ICD10CM:D69.8 {source="Orphanet:220443", source="ORDO:220443/attributed", source="ORDO:220443/ntbt"} -xref: OMIM:614009 {source="Orphanet:220443", source="ORDO:220443/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D69.8 {source="Orphanet:220443/attributed", source="Orphanet:220443/ntbt", source="Orphanet:220443"} +xref: OMIM:614009 {source="Orphanet:220443", source="MONDO:equivalentTo", source="Orphanet:220443/e"} xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"} xref: UMLS:C3279614 {source="NCBI:mim2gene_medline", source="OMIM:614009", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000009 {source="DC-OMIM:614009", source="MONDO:Redundant", source="OMIM:614009", source="indirect"} ! inherited bleeding disorder, platelet-type @@ -269175,8 +269046,8 @@ synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MON synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620] xref: DOID:0111449 {source="MONDO:equivalentTo"} xref: GARD:0003872 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G40.3 {source="ORDO:280620/attributed", source="ORDO:280620/ntbt", source="Orphanet:280620"} -xref: OMIM:614018 {source="MONDO:equivalentTo", source="ORDO:280620/e", source="Orphanet:280620"} +xref: ICD10CM:G40.3 {source="Orphanet:280620/attributed", source="Orphanet:280620/ntbt", source="Orphanet:280620"} +xref: OMIM:614018 {source="Orphanet:280620/e", source="MONDO:equivalentTo", source="Orphanet:280620"} xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"} xref: UMLS:C3279627 {source="OMIM:614018", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020074 {source="DC-OMIM:614018", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonus epilepsy @@ -269201,7 +269072,7 @@ synonym: "NDE1 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_ xref: OMIM:614019 {source="MONDO:equivalentTo"} xref: Orphanet:1083 {source="MONDO:subClassOf", source="OMIM:614019"} xref: UMLS:C3151461 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614019"} -is_a: MONDO:0015204 {source="ORDO:1083/btnt"} ! microlissencephaly +is_a: MONDO:0015204 {source="Orphanet:1083/btnt"} ! microlissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:614019", source="indirect"} ! lissencephaly spectrum disorders intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17619 ! NDE1 @@ -269276,9 +269147,9 @@ synonym: "phosphoserine phosphatase deficiency" EXACT [DOID:0050724, MONDO:Lexic synonym: "PSPH deficiency" EXACT CLINGEN_PREFERRED [] synonym: "PSPHD" EXACT ABBREVIATION [DOID:0050724, MONDO:Lexical, OMIM:614023] xref: DOID:0050724 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="ORDO:79350/attributed", source="ORDO:79350/ntbt", source="Orphanet:79350"} +xref: ICD10CM:E72.8 {source="Orphanet:79350", source="Orphanet:79350/attributed", source="Orphanet:79350/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:614023 {source="ORDO:79350/e", source="MONDO:equivalentTo", source="DOID:0050724", source="Orphanet:79350"} +xref: OMIM:614023 {source="MONDO:equivalentTo", source="DOID:0050724", source="Orphanet:79350", source="Orphanet:79350/e"} xref: Orphanet:79350 {source="MONDO:equivalentTo", source="OMIM:614023"} xref: SCTID:124432005 {source="MONDO:equivalentTo"} xref: UMLS:C1291463 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614023"} @@ -269312,8 +269183,8 @@ synonym: "hyperlipidemia due to HL deficiency" EXACT [Orphanet:140905] synonym: "hyperlipidemia due to HTGL deficiency" EXACT [Orphanet:140905] synonym: "lipc deficiency" RELATED [OMIM:614025] xref: GARD:0012864 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E78.4 {source="Orphanet:140905", source="ORDO:140905/attributed", source="ORDO:140905/ntbt"} -xref: OMIM:614025 {source="Orphanet:140905", source="ORDO:140905/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E78.4 {source="Orphanet:140905", source="Orphanet:140905/attributed", source="Orphanet:140905/ntbt"} +xref: OMIM:614025 {source="Orphanet:140905", source="MONDO:equivalentTo", source="Orphanet:140905/e"} xref: Orphanet:140905 {source="OMIM:614025", source="MONDO:equivalentTo"} xref: SCTID:720940008 {source="MONDO:equivalentTo"} xref: UMLS:C3151466 {source="OMIM:614025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -269374,8 +269245,7 @@ synonym: "autosomal recessive nonsyndromic deafness 29" NARROW CLINGEN_PREFERRED synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 29" NARROW [DOID:0110487, MONDORULE:2] synonym: "CLDN14 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 29" NARROW [MONDO:Lexical, OMIM:614035] -synonym: "deafness, autosomal recessive 29" NARROW [OMIM:614035, OMIM:genemap2] +synonym: "deafness, autosomal recessive 29" NARROW [MONDO:Lexical, OMIM:614035, OMIM:genemap2] synonym: "deafness, autosomal recessive type 29" NARROW [MONDORULE:2, OMIM:614035] synonym: "DFNB29" NARROW ABBREVIATION [DOID:0110487, MONDO:Lexical, OMIM:614035] xref: DOID:0110487 {source="MONDO:equivalentTo"} @@ -269413,7 +269283,7 @@ subset: ordo_disease {source="Orphanet:79507"} synonym: "leukotriene C4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507] synonym: "LTC4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507] xref: MESH:C565439 {source="MONDO:equivalentTo"} -xref: OMIM:614037 {source="ORDO:79507/e", source="MONDO:equivalentTo", source="Orphanet:79507"} +xref: OMIM:614037 {source="MONDO:equivalentTo", source="Orphanet:79507", source="Orphanet:79507/e"} xref: Orphanet:79507 {source="OMIM:614037", source="MONDO:equivalentTo"} xref: SCTID:717185008 {source="MONDO:equivalentTo"} xref: UMLS:C1855503 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -269433,7 +269303,7 @@ synonym: "Emberger syndrome" EXACT [OMIM:614038, Orphanet:3226] synonym: "lymphedema, primary, with myelodysplasia" RELATED [OMIM:614038] xref: GARD:0013030 {source="MONDO:equivalentTo"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:614038 {source="Orphanet:3226", source="ORDO:3226/e", source="MONDO:equivalentTo"} +xref: OMIM:614038 {source="Orphanet:3226", source="MONDO:equivalentTo", source="Orphanet:3226/e"} xref: Orphanet:3226 {source="OMIM:614038", source="MONDO:equivalentTo"} xref: SCTID:700057001 {source="MONDO:equivalentTo"} xref: UMLS:C3279664 {source="OMIM:614038", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -269461,8 +269331,8 @@ synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EX synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090137 {source="MONDO:equivalentTo"} xref: GARD:0013032 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q04.3 {source="DOID:0090137", source="Orphanet:300570", source="ORDO:300570/attributed", source="ORDO:300570/ntbt"} -xref: OMIM:614039 {source="MONDO:equivalentTo", source="DOID:0090137", source="Orphanet:300570", source="ORDO:300570/e"} +xref: ICD10CM:Q04.3 {source="DOID:0090137", source="Orphanet:300570/attributed", source="Orphanet:300570/ntbt", source="Orphanet:300570"} +xref: OMIM:614039 {source="Orphanet:300570/e", source="MONDO:equivalentTo", source="DOID:0090137", source="Orphanet:300570"} xref: Orphanet:300570 {source="OMIM:614039", source="MONDO:equivalentTo", source="DOID:0090137"} xref: UMLS:C3279670 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3808397 {source="OMIM:614039", source="MONDO:notFoundInDiseaseSubset"} @@ -269555,9 +269425,9 @@ synonym: "TMEM70 defect" RELATED [GARD:0012965] synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [Orphanet:1194] xref: DOID:0060331 {source="MONDO:equivalentTo"} xref: GARD:0012965 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="DOID:0060331", source="Orphanet:1194", source="ORDO:1194/attributed", source="ORDO:1194/ntbt"} +xref: ICD10CM:G71.3 {source="DOID:0060331", source="Orphanet:1194/attributed", source="Orphanet:1194/ntbt", source="Orphanet:1194"} xref: MESH:C567528 {source="MONDO:equivalentTo"} -xref: OMIM:614052 {source="DOID:0060331", source="MONDO:equivalentTo", source="Orphanet:1194", source="ORDO:1194/e"} +xref: OMIM:614052 {source="Orphanet:1194/e", source="DOID:0060331", source="MONDO:equivalentTo", source="Orphanet:1194"} xref: Orphanet:1194 {source="DOID:0060331", source="MONDO:equivalentTo", source="OMIM:614052"} xref: SCTID:718212006 {source="MONDO:equivalentTo"} xref: UMLS:C3279699 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614052", source="Orphanet:1194"} @@ -269582,7 +269452,7 @@ xref: OMIM:614053 {source="DOID:0060332", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="MONDO:subClassOf", source="DOID:0060332", source="OMIM:614053"} xref: UMLS:C3279708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614053"} is_a: MONDO:0000066 {source="DC-OMIM:614053"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="DOID:0060332", source="ORDO:254913/btnt", source="indirect"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0060332", source="Orphanet:254913/btnt", source="indirect"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/838 ! ATP5F1E relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/838 {source="mim2gene_medgen"} ! ATP5F1E @@ -269632,8 +269502,8 @@ synonym: "MPD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614065] synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical, OMIM:614065] synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1, OMIM:614065] synonym: "Williams distal myopathy" RELATED [OMIM:614065] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:63273/attributed", source="ORDO:63273/ntbt", source="Orphanet:63273"} -xref: OMIM:614065 {source="MONDO:equivalentTo", source="ORDO:63273/e", source="Orphanet:63273"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:63273/attributed", source="Orphanet:63273/ntbt", source="Orphanet:63273"} +xref: OMIM:614065 {source="Orphanet:63273/e", source="MONDO:equivalentTo", source="Orphanet:63273"} xref: Orphanet:63273 {source="MONDO:equivalentTo", source="OMIM:614065"} xref: SCTID:733489002 {source="MONDO:equivalentTo"} xref: UMLS:C3279722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614065"} @@ -269663,7 +269533,7 @@ xref: NCIT:C164224 {source="MONDO:equivalentTo"} xref: OMIM:614066 {source="DOID:0110799", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="MONDO:subClassOf", source="DOID:0110799", source="OMIM:614066"} xref: UMLS:C3279738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614066"} -is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia +is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110799", source="MONDO:Redundant", source="OMIM:614066", source="indirect"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/572 ! AP4B1 @@ -269689,7 +269559,7 @@ xref: DOID:0110804 {source="MONDO:equivalentTo"} xref: OMIM:614067 {source="DOID:0110804", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="MONDO:subClassOf", source="DOID:0110804", source="OMIM:614067"} xref: UMLS:C3279743 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614067"} -is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia +is_a: MONDO:0017241 {source="Orphanet:280763/btnt"} ! AP4-related intellectual disability and spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110804", source="MONDO:Redundant", source="OMIM:614067", source="indirect"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/575 ! AP4S1 @@ -269755,7 +269625,7 @@ xref: Orphanet:231512 {source="MONDO:subClassOf", source="OMIM:614072"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614072"} xref: UMLS:C1423606 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614072"} xref: UMLS:C3888001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis +is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060541", source="MONDO:Redundant", source="OMIM:614072", source="indirect"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15597 ! HPS3 @@ -269776,7 +269646,7 @@ xref: OMIM:614073 {source="DOID:0060542", source="MONDO:equivalentTo"} xref: Orphanet:231500 {source="MONDO:subClassOf", source="OMIM:614073"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614073"} xref: UMLS:C3484357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614073"} -is_a: MONDO:0016501 {source="ORDO:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis +is_a: MONDO:0016501 {source="Orphanet:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060542", source="MONDO:Redundant", source="OMIM:614073", source="indirect"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15844 ! HPS4 @@ -269798,7 +269668,7 @@ xref: Orphanet:231512 {source="MONDO:subClassOf", source="OMIM:614074"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614074"} xref: UMLS:C1424692 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614074"} xref: UMLS:C3888004 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis +is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060543", source="MONDO:Redundant", source="OMIM:614074", source="indirect"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17022 ! HPS5 @@ -269821,7 +269691,7 @@ xref: Orphanet:231512 {source="MONDO:subClassOf", source="OMIM:614075"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614075"} xref: UMLS:C1425796 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614075"} xref: UMLS:C3888007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis +is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060544", source="MONDO:Redundant", source="NCIT:C150369", source="OMIM:614075", source="indirect"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18817 ! HPS6 @@ -269839,8 +269709,8 @@ synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:d synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076] synonym: "HPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614076, Orphanet:231531] xref: DOID:0060545 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231531", source="ORDO:231531/attributed", source="ORDO:231531/ntbt"} -xref: OMIM:614076 {source="Orphanet:231531", source="ORDO:231531/e", source="DOID:0060545", source="MONDO:equivalentTo"} +xref: ICD10CM:E70.3 {source="Orphanet:231531/attributed", source="Orphanet:231531/ntbt", source="MONDO:relatedTo", source="Orphanet:231531"} +xref: OMIM:614076 {source="Orphanet:231531", source="DOID:0060545", source="MONDO:equivalentTo", source="Orphanet:231531/e"} xref: Orphanet:231531 {source="MONDO:equivalentTo", source="OMIM:614076"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614076"} xref: UMLS:C3279756 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614076"} @@ -269861,8 +269731,8 @@ synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO: synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077] synonym: "HPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614077, Orphanet:231537] xref: DOID:0060546 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="ORDO:231537/attributed", source="ORDO:231537/ntbt", source="MONDO:relatedTo", source="Orphanet:231537"} -xref: OMIM:614077 {source="MONDO:equivalentTo", source="DOID:0060546", source="Orphanet:231537", source="ORDO:231537/e"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231537", source="Orphanet:231537/attributed", source="Orphanet:231537/ntbt"} +xref: OMIM:614077 {source="Orphanet:231537/e", source="MONDO:equivalentTo", source="DOID:0060546", source="Orphanet:231537"} xref: Orphanet:231537 {source="MONDO:equivalentTo", source="OMIM:614077"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614077"} xref: UMLS:C1538326 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614077"} @@ -269881,7 +269751,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:280586"} synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT CLINGEN_PREFERRED [OMIM:614078] synonym: "gPAPP deficiency" EXACT [OMIM:614078, Orphanet:280586] xref: GARD:0011009 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:614078 {source="MONDO:equivalentTo", source="Orphanet:280586", source="ORDO:280586/e"} +xref: OMIM:614078 {source="Orphanet:280586/e", source="MONDO:equivalentTo", source="Orphanet:280586"} xref: Orphanet:280586 {source="MONDO:equivalentTo", source="OMIM:614078"} xref: UMLS:C3279757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614078"} is_a: MONDO:0002081 {source="GARD:0011009"} ! musculoskeletal system disorder @@ -269920,8 +269790,8 @@ synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual di synonym: "PIGN-CDG" EXACT [Orphanet:280633] xref: DOID:0080138 {source="MONDO:equivalentTo"} xref: GARD:0012781 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:280633/attributed", source="ORDO:280633/ntbt", source="Orphanet:280633"} -xref: OMIM:614080 {source="MONDO:equivalentTo", source="DOID:0080138", source="ORDO:280633/e", source="Orphanet:280633"} +xref: ICD10CM:Q87.8 {source="Orphanet:280633/attributed", source="Orphanet:280633/ntbt", source="Orphanet:280633"} +xref: OMIM:614080 {source="Orphanet:280633/e", source="MONDO:equivalentTo", source="DOID:0080138", source="Orphanet:280633"} xref: Orphanet:280633 {source="MONDO:equivalentTo", source="OMIM:614080"} xref: UMLS:C3279775 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614080"} is_a: MONDO:0015286 ! congenital disorder of glycosylation @@ -269941,8 +269811,7 @@ name: anhaptoglobinemia synonym: "Ahaptoglobinemia" RELATED [OMIM:614081] synonym: "AHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614081] synonym: "ANHAPTOGLOBINEMIA" RELATED ABBREVIATION [OMIM:614081] -synonym: "anhaptoglobinemia" EXACT [OMIM:614081, OMIM:genemap2] -synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081] +synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081, OMIM:genemap2] synonym: "hypohaptoglobinemia" EXACT [OMIM:614081, OMIM:genemap2] xref: OMIM:614081 {source="MONDO:equivalentTo"} xref: UMLS:C3279786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614081"} @@ -270054,7 +269923,7 @@ xref: Orphanet:93271 {source="MONDO:subClassOf", source="OMIM:614091"} xref: UMLS:C3279792 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614091"} is_a: MONDO:0015461 {source="Orphanet:498497"} ! short rib-polydactyly syndrome is_a: MONDO:0018770 {source="DOID:0110090", source="OMIM:614091"} ! Jeune syndrome -is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type +is_a: MONDO:0019664 {source="Orphanet:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29250 {source="mim2gene_medgen"} ! WDR35 property_value: confidence "0.7173913043478257" xsd:double @@ -270070,8 +269939,8 @@ synonym: "combined oxidative phosphorylation deficiency caused by mutation in AA synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096] synonym: "COXPD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614096, Orphanet:319504] xref: DOID:0111479 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.2 {source="Orphanet:319504", source="ORDO:319504/attributed", source="ORDO:319504/ntbt"} -xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source="ORDO:319504/e"} +xref: ICD10CM:I42.2 {source="Orphanet:319504", source="Orphanet:319504/attributed", source="Orphanet:319504/ntbt"} +xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source="Orphanet:319504/e"} xref: Orphanet:319504 {source="MONDO:equivalentTo", source="OMIM:614096"} xref: SCTID:733600007 {source="MONDO:equivalentTo"} xref: UMLS:C3279793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614096"} @@ -270096,17 +269965,17 @@ xref: DOID:2582 {source="EFO:0004144", source="MONDO:equivalentTo"} xref: EFO:0004144 {source="MONDO:equivalentTo"} xref: GARD:0000363 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: HGNC:1516 {source="EFO:0004144"} -xref: ICD10CM:E80.3 {source="ORDO:926/e", source="Orphanet:926", source="ORDO:926/specific"} +xref: ICD10CM:E80.3 {source="Orphanet:926/specific", source="Orphanet:926", source="Orphanet:926/e"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D020642 {source="DOID:2582", source="EFO:0004144", source="MONDO:equivalentTo"} xref: NCIT:C84526 {source="DOID:2582", source="MONDO:equivalentTo"} -xref: OMIM:614097 {source="DOID:2582", source="MONDO:equivalentTo", source="ORDO:926/e", source="Orphanet:926"} +xref: OMIM:614097 {source="DOID:2582", source="MONDO:equivalentTo", source="Orphanet:926", source="Orphanet:926/e"} xref: Orphanet:926 {source="MONDO:equivalentTo", source="OMIM:614097"} xref: SCTID:111393000 {source="DOID:2582"} xref: SCTID:124202004 {source="MONDO:equivalentTo"} xref: SCTID:190954001 {source="DOID:2582"} xref: SCTID:267454002 {source="DOID:2582"} -xref: UMLS:C0268419 {source="DOID:2582", source="NCIT:C84526", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:926/e", source="Orphanet:926", source="OMIM:614097"} +xref: UMLS:C0268419 {source="DOID:2582", source="NCIT:C84526", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:926", source="OMIM:614097", source="Orphanet:926/e"} xref: UMLS:C2931868 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:926"} is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1516 {source="mim2gene_medgen"} ! CAT @@ -270122,8 +269991,8 @@ synonym: "generalized lipodystrophy-progeroid features-severe intellectual disab synonym: "KEPPEN-Lubinsky syndrome" RELATED [OMIM:614098] synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098] synonym: "KPLBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614098] -xref: ICD10CM:E88.1 {source="ORDO:435628/attributed", source="ORDO:435628/ntbt", source="Orphanet:435628"} -xref: OMIM:614098 {source="MONDO:equivalentTo", source="ORDO:435628/e", source="Orphanet:435628"} +xref: ICD10CM:E88.1 {source="Orphanet:435628", source="Orphanet:435628/attributed", source="Orphanet:435628/ntbt"} +xref: OMIM:614098 {source="MONDO:equivalentTo", source="Orphanet:435628", source="Orphanet:435628/e"} xref: Orphanet:435628 {source="MONDO:equivalentTo"} xref: UMLS:C3279800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614098"} is_a: MONDO:0020087 {source="Orphanet:435628"} ! genetic lipodystrophy @@ -270143,7 +270012,7 @@ synonym: "IFT43 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:p xref: OMIM:614099 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="MONDO:subClassOf", source="OMIM:614099"} xref: UMLS:C3279807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614099"} -is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:614099", source="ORDO:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:614099", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29669 ! IFT43 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29669 {source="mim2gene_medgen"} ! IFT43 @@ -270157,10 +270026,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:171719"} synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100] synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100] xref: MESH:C563639 {source="MONDO:equivalentTo"} -xref: OMIM:614100 {source="ORDO:171719/e", source="MONDO:equivalentTo", source="Orphanet:171719"} +xref: OMIM:614100 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e"} xref: Orphanet:171719 {source="MONDO:equivalentTo", source="OMIM:614100"} xref: SCTID:254221009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432335 {source="ORDO:171719/e", source="MONDO:equivalentTo", source="Orphanet:171719", source="OMIM:614100"} +xref: UMLS:C0432335 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e", source="OMIM:614100"} xref: UMLS:C1835577 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis property_value: confidence "9.0" xsd:double @@ -270189,7 +270058,7 @@ synonym: "kappa-chain deficiency" EXACT [Orphanet:183675] synonym: "recurrent infections associated with rare immunoglobulin isotypes deficiency" EXACT CLINGEN_PREFERRED [] synonym: "selective IgG subclass deficiency" EXACT [Orphanet:183675] xref: MESH:C564131 {source="MONDO:equivalentTo"} -xref: OMIM:614102 {source="MONDO:equivalentTo", source="ORDO:183675/e", source="Orphanet:183675"} +xref: OMIM:614102 {source="Orphanet:183675/e", source="MONDO:equivalentTo", source="Orphanet:183675"} xref: Orphanet:183675 {source="OMIM:614102", source="MONDO:equivalentTo"} xref: UMLS:C0162539 {source="Orphanet:183675"} xref: UMLS:C3279824 {source="OMIM:614102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:183675"} @@ -270206,14 +270075,14 @@ subset: ordo_disease {source="Orphanet:77243"} synonym: "lipedema" EXACT [MONDO:ambiguous] synonym: "Lipedema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0100695 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E65 {source="ORDO:77243/attributed", source="ORDO:77243/ntbt", source="Orphanet:77243"} -xref: MedDRA:10063955 {source="ORDO:77243/e", source="Orphanet:77243"} +xref: ICD10CM:E65 {source="Orphanet:77243/attributed", source="Orphanet:77243/ntbt", source="Orphanet:77243"} +xref: MedDRA:10063955 {source="Orphanet:77243/e", source="Orphanet:77243"} xref: MESH:D065134 {source="MONDO:equivalentTo"} -xref: OMIM:614103 {source="MONDO:equivalentTo", source="ORDO:77243/e", source="Orphanet:77243"} +xref: OMIM:614103 {source="Orphanet:77243/e", source="MONDO:equivalentTo", source="Orphanet:77243"} xref: Orphanet:77243 {source="OMIM:614103", source="MONDO:equivalentTo"} xref: SCTID:234102003 {source="MONDO:equivalentTo"} xref: UMLS:C0020473 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline"} -xref: UMLS:C0398370 {source="OMIM:614103", source="MONDO:notFoundInDiseaseSubset", source="ORDO:77243/e", source="Orphanet:77243"} +xref: UMLS:C0398370 {source="Orphanet:77243/e", source="OMIM:614103", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77243"} is_a: MONDO:0019296 {source="Orphanet:77243"} ! subcutaneous tissue disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare property_value: confidence "4.277777777777778" xsd:double @@ -270233,7 +270102,7 @@ synonym: "mental retardation, autosomal dominant 7" RELATED DEPRECATED [MONDO:Le synonym: "mental retardation, autosomal dominant type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:614104] synonym: "MRD7" EXACT ABBREVIATION [DOID:0070037, MONDO:Lexical, OMIM:614104] xref: DOID:0070037 {source="MONDO:equivalentTo"} -xref: OMIM:614104 {source="MONDO:equivalentTo", source="DOID:0070037", source="Orphanet:464306", source="ORDO:464306/e"} +xref: OMIM:614104 {source="MONDO:equivalentTo", source="DOID:0070037", source="Orphanet:464306", source="Orphanet:464306/e"} xref: Orphanet:464306 {source="MONDO:equivalentTo"} xref: UMLS:C3279839 {source="OMIM:614104", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464306", source="indirect"} ! syndromic intellectual disability @@ -270254,9 +270123,9 @@ synonym: "developmental delay due to MMSDH deficiency" EXACT [Orphanet:289307] synonym: "methylmalonate semialdehyde dehydrogenase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614105] synonym: "MMSDH deficiency" RELATED [OMIM:614105] synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614105] -xref: ICD10CM:E71.1 {source="ORDO:289307/attributed", source="ORDO:289307/ntbt", source="Orphanet:289307"} +xref: ICD10CM:E71.1 {source="Orphanet:289307", source="Orphanet:289307/attributed", source="Orphanet:289307/ntbt"} xref: MESH:C566402 {source="MONDO:equivalentTo"} -xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="ORDO:289307/e"} +xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="Orphanet:289307/e"} xref: Orphanet:289307 {source="OMIM:614105", source="MONDO:equivalentTo"} xref: UMLS:C1864150 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3279840 {source="OMIM:614105", source="MONDO:equivalentTo", source="Orphanet:289307"} @@ -270273,9 +270142,9 @@ synonym: "PDHBD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614111, Orphanet:255138 synonym: "pyruvate dehydrogenase complex E1 component subunit beta deficiency" EXACT [Orphanet:255138] synonym: "pyruvate dehydrogenase E1-BETA deficiency" RELATED [OMIM:614111] synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111] -xref: ICD10CM:E74.4 {source="ORDO:255138/attributed", source="ORDO:255138/ntbt", source="Orphanet:255138"} +xref: ICD10CM:E74.4 {source="Orphanet:255138", source="Orphanet:255138/attributed", source="Orphanet:255138/ntbt"} xref: MESH:C566729 {source="MONDO:equivalentTo"} -xref: OMIM:614111 {source="ORDO:255138/e", source="MONDO:equivalentTo", source="Orphanet:255138"} +xref: OMIM:614111 {source="MONDO:equivalentTo", source="Orphanet:255138", source="Orphanet:255138/e"} xref: Orphanet:255138 {source="MONDO:equivalentTo", source="OMIM:614111"} xref: Orphanet:765 {source="MONDO:subClassOf", source="OMIM:614111"} xref: UMLS:C1867399 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -270339,8 +270208,8 @@ synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical, OMIM:614115 synonym: "occipital malformations of cortical development" EXACT [Orphanet:280640] synonym: "occipital MCD" EXACT [Orphanet:280640] synonym: "OCCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614115] -xref: ICD10CM:Q04.3 {source="ORDO:280640/attributed", source="ORDO:280640/ntbt", source="Orphanet:280640"} -xref: OMIM:614115 {source="MONDO:equivalentTo", source="ORDO:280640/e", source="Orphanet:280640"} +xref: ICD10CM:Q04.3 {source="Orphanet:280640/attributed", source="Orphanet:280640/ntbt", source="Orphanet:280640"} +xref: OMIM:614115 {source="Orphanet:280640/e", source="MONDO:equivalentTo", source="Orphanet:280640"} xref: Orphanet:280640 {source="OMIM:614115", source="MONDO:equivalentTo"} xref: UMLS:C3279875 {source="OMIM:614115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:280640"} ! cerebral malformation @@ -270368,9 +270237,9 @@ synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATE xref: DOID:0070158 {source="MONDO:equivalentTo"} xref: GARD:0011927 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: GARD:11927 {source="DOID:0070158"} -xref: ICD10CM:G60.8 {source="ORDO:456318/attributed", source="ORDO:456318/ntbt", source="Orphanet:456318", source="DOID:0070158"} +xref: ICD10CM:G60.8 {source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/attributed", source="Orphanet:456318/ntbt"} xref: MESH:C580162 {source="MONDO:equivalentTo"} -xref: OMIM:614116 {source="MONDO:equivalentTo", source="Orphanet:456318", source="DOID:0070158", source="ORDO:456318/e"} +xref: OMIM:614116 {source="MONDO:equivalentTo", source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/e"} xref: Orphanet:456318 {source="MONDO:equivalentTo", source="DOID:0070158"} xref: UMLS:C3279885 {source="NCBI:mim2gene_medline", source="OMIM:614116", source="MONDO:equivalentTo"} is_a: MONDO:0003406 {source="Orphanet:456318"} ! sleep-wake disorder @@ -270434,9 +270303,9 @@ synonym: "LDH deficiency B" RELATED [GARD:0003161] synonym: "LDH-H subunit deficiency" EXACT [Orphanet:284435] synonym: "LDHBD" RELATED ABBREVIATION [GARD:0003161, MONDO:Lexical, OMIM:614128] xref: GARD:0003161 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:284435/attributed", source="ORDO:284435/ntbt", source="Orphanet:284435"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:284435/attributed", source="Orphanet:284435/ntbt", source="Orphanet:284435"} xref: MESH:C563641 {source="MONDO:equivalentTo"} -xref: OMIM:614128 {source="MONDO:equivalentTo", source="ORDO:284435/e", source="GARD:0003161", source="Orphanet:284435"} +xref: OMIM:614128 {source="Orphanet:284435/e", source="MONDO:equivalentTo", source="GARD:0003161", source="Orphanet:284435"} xref: Orphanet:2364 {source="MONDO:subClassOf", source="OMIM:614128"} xref: Orphanet:284435 {source="OMIM:614128", source="MONDO:equivalentTo"} xref: UMLS:C1835592 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -270504,7 +270373,7 @@ xref: Orphanet:250984 {source="MONDO:subClassOf", source="OMIM:614134"} xref: Orphanet:828 {source="MONDO:subClassOf", source="OMIM:614134"} xref: UMLS:C1852831 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3279941 {source="OMIM:614134", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016647 {source="MONDO:Redundant", source="ORDO:250984/btnt"} ! autosomal recessive Stickler syndrome +is_a: MONDO:0016647 {source="MONDO:Redundant", source="Orphanet:250984/btnt"} ! autosomal recessive Stickler syndrome is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:614134", source="indirect"} ! Stickler syndrome intersection_of: MONDO:0016647 ! autosomal recessive Stickler syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2217 ! COL9A1 @@ -270527,7 +270396,7 @@ xref: GARD:0013376 {source="MONDO:equivalentTo"} xref: OMIM:614135 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="MONDO:subClassOf", source="OMIM:614135"} xref: UMLS:C2675767 {source="OMIM:614135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015627 {source="ORDO:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly +is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:614135", source="indirect"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2217 ! COL9A1 @@ -270551,9 +270420,9 @@ xref: Orphanet:79143 {source="MONDO:subClassOf", source="OMIM:614149"} xref: Orphanet:90390 {source="MONDO:subClassOf", source="OMIM:614149"} xref: SCTID:87065009 {source="MONDO:equivalentTo"} xref: UMLS:C3279947 {source="NCBI:mim2gene_medline", source="OMIM:614149", source="MONDO:equivalentTo"} -is_a: MONDO:0019211 {source="MONDO:Redundant", source="ORDO:79143/btnt", source="indirect"} ! isolated congenital anonychia +is_a: MONDO:0019211 {source="MONDO:Redundant", source="Orphanet:79143/btnt", source="indirect"} ! isolated congenital anonychia is_a: MONDO:0019284 {source="DC-OMIM:614149", source="OMIM:614149", source="indirect"} ! inherited isolated nail anomaly -is_a: MONDO:0019577 {source="ORDO:90390/btnt"} ! anonychia-onychodystrophy syndrome +is_a: MONDO:0019577 {source="Orphanet:90390/btnt"} ! anonychia-onychodystrophy syndrome relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: confidence "0.1666666666666663" xsd:double @@ -270567,8 +270436,7 @@ synonym: "autosomal dominant deafness 64" NARROW [DOID:0110585] synonym: "autosomal dominant nonsyndromic deafness 64" NARROW [OMIM:614152] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 64" NARROW [DOID:0110585, MONDORULE:2] -synonym: "deafness, autosomal dominant 64" NARROW [MONDO:Lexical, OMIM:614152] -synonym: "deafness, autosomal dominant 64" NARROW [OMIM:614152, OMIM:genemap2] +synonym: "deafness, autosomal dominant 64" NARROW [MONDO:Lexical, OMIM:614152, OMIM:genemap2] synonym: "deafness, autosomal dominant type 64" NARROW [MONDORULE:2, OMIM:614152] synonym: "DFNA64" NARROW ABBREVIATION [DOID:0110585, MONDO:Lexical, OMIM:614152] synonym: "DIABLO autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -270594,9 +270462,9 @@ synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical, OMIM:614153] synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153] xref: DOID:0050983 {source="MONDO:equivalentTo"} xref: GARD:0012367 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:276198", source="ORDO:276198/attributed", source="ORDO:276198/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:276198", source="Orphanet:276198/attributed", source="Orphanet:276198/ntbt"} xref: NCIT:C148316 {source="MONDO:equivalentTo"} -xref: OMIM:614153 {source="Orphanet:276198", source="ORDO:276198/e", source="DOID:0050983", source="MONDO:equivalentTo"} +xref: OMIM:614153 {source="Orphanet:276198", source="DOID:0050983", source="MONDO:equivalentTo", source="Orphanet:276198/e"} xref: Orphanet:276198 {source="MONDO:equivalentTo", source="OMIM:614153"} xref: SCTID:711158005 {source="MONDO:equivalentTo"} xref: UMLS:C3472711 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614153"} @@ -270612,8 +270480,8 @@ subset: ordo_disease {source="Orphanet:276405"} synonym: "green jaundice" EXACT [OMIM:614156, Orphanet:276405] synonym: "HBLVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614156] synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156] -xref: ICD10CM:K76.8 {source="ORDO:276405/attributed", source="ORDO:276405/ntbt", source="Orphanet:276405"} -xref: OMIM:614156 {source="MONDO:equivalentTo", source="ORDO:276405/e", source="Orphanet:276405"} +xref: ICD10CM:K76.8 {source="Orphanet:276405/attributed", source="Orphanet:276405/ntbt", source="Orphanet:276405"} +xref: OMIM:614156 {source="Orphanet:276405/e", source="MONDO:equivalentTo", source="Orphanet:276405"} xref: Orphanet:276405 {source="OMIM:614156", source="MONDO:equivalentTo"} xref: UMLS:C3279964 {source="OMIM:614156", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005154 {source="Orphanet:276405"} ! liver disorder @@ -270624,7 +270492,7 @@ property_value: confidence "3.687499999999999" xsd:double [Term] id: MONDO:0013596 name: obsolete nonsyndromic congenital nail disorder 10 -xref: OMIM:614157 {source="DOID:0080088", source="MONDO:obsoleteEquivalent", source="Orphanet:280654", source="ORDO:280654/e"} +xref: OMIM:614157 {source="DOID:0080088", source="Orphanet:280654/e", source="MONDO:obsoleteEquivalent", source="Orphanet:280654"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1394 xsd:anyURI is_obsolete: true replaced_by: MONDO:0008060 @@ -270665,11 +270533,11 @@ xref: GARD:0010238 {source="MONDO:equivalentTo"} xref: HGNC:4223 {source="GARD:0010238"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536106 {source="MONDO:equivalentTo"} -xref: OMIM:614160 {source="DOID:0111072", source="MONDO:equivalentTo", source="ORDO:275534/e", source="Orphanet:275534"} +xref: OMIM:614160 {source="DOID:0111072", source="MONDO:equivalentTo", source="Orphanet:275534", source="Orphanet:275534/e"} xref: Orphanet:275534 {source="DOID:0111072", source="MONDO:equivalentTo", source="OMIM:614160"} xref: SCTID:699185005 {source="MONDO:equivalentTo"} xref: UMLS:C0236033 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614160"} -xref: UMLS:C2931112 {source="DOID:0111072", source="ORDO:275534/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:275534"} +xref: UMLS:C2931112 {source="DOID:0111072", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:275534", source="Orphanet:275534/e"} is_a: MONDO:0003847 {source="Orphanet:275534", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0003939 {source="DOID:0111072"} ! muscle tissue disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4223 {source="mim2gene_medgen"} ! MSTN @@ -270694,8 +270562,8 @@ synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical, OMIM:614162] synonym: "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" EXACT [OMIM:614162, OMIM:genemap2] synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4, OMIM:614162] xref: GARD:0012314 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:K63.9 {source="ORDO:391487/attributed", source="ORDO:391487/ntbt", source="Orphanet:391487"} -xref: OMIM:614162 {source="MONDO:equivalentTo", source="ORDO:391487/e", source="Orphanet:391487"} +xref: ICD10CM:K63.9 {source="Orphanet:391487/attributed", source="Orphanet:391487/ntbt", source="Orphanet:391487"} +xref: OMIM:614162 {source="Orphanet:391487/e", source="MONDO:equivalentTo", source="Orphanet:391487"} xref: Orphanet:391487 {source="MONDO:equivalentTo"} xref: UMLS:C3279990 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614162"} is_a: MONDO:0015126 {source="Orphanet:391487"} ! polyendocrinopathy @@ -270762,7 +270630,7 @@ xref: Orphanet:29072 {source="MONDO:subClassOf", source="OMIM:614165"} xref: UMLS:C3279992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614165"} is_a: MONDO:0000448 {source="DC-OMIM:614165", source="MONDO:Redundant", source="OMIM:614165"} ! paraganglioma is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm -is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10680 ! SDHA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10680 {source="mim2gene_medgen"} ! SDHA @@ -270806,7 +270674,7 @@ synonym: "PRDM5 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patt xref: OMIM:614170 {source="MONDO:equivalentTo"} xref: Orphanet:90354 {source="MONDO:subClassOf", source="OMIM:614170"} xref: UMLS:C3280011 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614170"} -is_a: MONDO:0009242 {source="MONDO:Redundant", source="OMIM:614170", source="ORDO:90354/btnt"} ! brittle cornea syndrome +is_a: MONDO:0009242 {source="MONDO:Redundant", source="OMIM:614170", source="Orphanet:90354/btnt"} ! brittle cornea syndrome intersection_of: MONDO:0009242 ! brittle cornea syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9349 ! PRDM5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9349 {source="mim2gene_medgen"} ! PRDM5 @@ -270824,8 +270692,8 @@ synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO: synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171] synonym: "HPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614171, Orphanet:280663] xref: DOID:0060547 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="ORDO:280663/attributed", source="ORDO:280663/ntbt", source="MONDO:relatedTo", source="Orphanet:280663"} -xref: OMIM:614171 {source="MONDO:equivalentTo", source="DOID:0060547", source="Orphanet:280663", source="ORDO:280663/e"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:280663", source="Orphanet:280663/attributed", source="Orphanet:280663/ntbt"} +xref: OMIM:614171 {source="Orphanet:280663/e", source="MONDO:equivalentTo", source="DOID:0060547", source="Orphanet:280663"} xref: Orphanet:280663 {source="MONDO:equivalentTo", source="OMIM:614171"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614171"} xref: UMLS:C3280026 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614171"} @@ -270856,8 +270724,8 @@ synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [OMIM:614172 synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [OMIM:614172] synonym: "MonoMAC" EXACT [Orphanet:228423] xref: GARD:0010934 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D72.8 {source="ORDO:228423/attributed", source="ORDO:228423/ntbt", source="Orphanet:228423"} -xref: OMIM:614172 {source="MONDO:equivalentTo", source="Orphanet:228423", source="ORDO:228423/e"} +xref: ICD10CM:D72.8 {source="Orphanet:228423/attributed", source="Orphanet:228423/ntbt", source="Orphanet:228423"} +xref: OMIM:614172 {source="Orphanet:228423/e", source="MONDO:equivalentTo", source="Orphanet:228423"} xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"} xref: UMLS:C3280030 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614172"} is_a: MONDO:0015133 {source="Orphanet:228423"} ! quantitative and/or qualitative congenital phagocyte defect @@ -270990,7 +270858,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:293958"} synonym: "HPPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614187, Orphanet:293958] synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical, OMIM:614187] synonym: "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" EXACT [Orphanet:293958] -xref: OMIM:614187 {source="ORDO:293958/e", source="Orphanet:293958", source="MONDO:equivalentTo"} +xref: OMIM:614187 {source="Orphanet:293958", source="MONDO:equivalentTo", source="Orphanet:293958/e"} xref: Orphanet:293958 {source="MONDO:equivalentTo", source="OMIM:614187"} xref: UMLS:C3280065 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614187"} is_a: MONDO:0003847 {source="Orphanet:293958/inferred"} ! Mendelian disease @@ -271005,8 +270873,8 @@ synonym: "craniosynostosis and dental anomalies" EXACT [MONDO:Lexical, OMIM:6141 synonym: "craniosynostosis-dental anomalies" RELATED [Orphanet:284149] synonym: "CRSDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614188] synonym: "Kreiborg-Pakistani syndrome" EXACT [OMIM:614188, Orphanet:284149] -xref: ICD10CM:Q87.0 {source="ORDO:284149/attributed", source="ORDO:284149/ntbt", source="Orphanet:284149"} -xref: OMIM:614188 {source="MONDO:equivalentTo", source="ORDO:284149/e", source="Orphanet:284149"} +xref: ICD10CM:Q87.0 {source="Orphanet:284149/attributed", source="Orphanet:284149/ntbt", source="Orphanet:284149"} +xref: OMIM:614188 {source="Orphanet:284149/e", source="MONDO:equivalentTo", source="Orphanet:284149"} xref: Orphanet:284149 {source="MONDO:equivalentTo", source="OMIM:614188"} xref: UMLS:C3280073 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614188"} is_a: MONDO:0015338 {source="Orphanet:284149"} ! syndromic craniosynostosis @@ -271035,7 +270903,7 @@ property_value: confidence "5.0" xsd:double [Term] id: MONDO:0013617 name: obsolete overgrowth-macrocephaly-facial dysmorphism syndrome -xref: OMIM:614192 {source="ORDO:137634/e", source="Orphanet:137634", source="MONDO:obsoleteEquivalentObsolete"} +xref: OMIM:614192 {source="Orphanet:137634", source="Orphanet:137634/e", source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 "terms merged" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/4209 xsd:string is_obsolete: true @@ -271090,7 +270958,7 @@ xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:614198"} xref: UMLS:C3280112 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614198"} xref: UMLS:C3502630 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018940 {source="DOID:0110682", source="MONDO:Redundant", source="OMIM:614198", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome is_a: MONDO:0100121 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! SCN4A-related myopathy, autosomal recessive intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10591 ! SCN4A @@ -271106,8 +270974,8 @@ def: "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomeru subset: ordo_disease {source="Orphanet:306507"} synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities" RELATED [MONDO:Lexical, OMIM:614199] synonym: "NPHS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614199] -xref: ICD10CM:N04.8 {source="Orphanet:306507", source="ORDO:306507/attributed", source="ORDO:306507/ntbt"} -xref: OMIM:614199 {source="Orphanet:306507", source="ORDO:306507/e", source="MONDO:equivalentTo"} +xref: ICD10CM:N04.8 {source="Orphanet:306507/attributed", source="Orphanet:306507/ntbt", source="Orphanet:306507"} +xref: OMIM:614199 {source="Orphanet:306507", source="MONDO:equivalentTo", source="Orphanet:306507/e"} xref: Orphanet:306507 {source="MONDO:equivalentTo", source="OMIM:614199"} xref: UMLS:C3280113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614199"} is_a: MONDO:0002350 {source="OMIM:614199"} ! familial nephrotic syndrome @@ -271132,9 +271000,9 @@ synonym: "GP Ia deficiency" EXACT [DOID:0111045, OMIM:614200] synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern] synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111045 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.8 {source="Orphanet:98886", source="DOID:0111045", source="ORDO:98886/attributed", source="ORDO:98886/ntbt"} +xref: ICD10CM:D69.8 {source="Orphanet:98886", source="Orphanet:98886/attributed", source="Orphanet:98886/ntbt", source="DOID:0111045"} xref: MESH:C566000 {source="MONDO:equivalentTo"} -xref: OMIM:614200 {source="ORDO:98886/e", source="Orphanet:98886", source="MONDO:equivalentTo", source="DOID:0111045"} +xref: OMIM:614200 {source="Orphanet:98886", source="MONDO:equivalentTo", source="Orphanet:98886/e", source="DOID:0111045"} xref: Orphanet:73271 {source="MONDO:subClassOf", source="OMIM:614200"} xref: Orphanet:98886 {source="OMIM:614200", source="MONDO:equivalentTo", source="DOID:0111045"} xref: UMLS:C3280114 {source="OMIM:614200", source="Orphanet:98886", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -271163,8 +271031,8 @@ synonym: "platelet-type bleeding disorder 11" EXACT CLINGEN_PREFERRED [] synonym: "platelet-type bleeding disorder-11" RELATED [GARD:0013293] xref: DOID:0111057 {source="MONDO:equivalentTo"} xref: GARD:0013293 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.8 {source="Orphanet:98885", source="DOID:0111057", source="ORDO:98885/attributed", source="ORDO:98885/ntbt"} -xref: OMIM:614201 {source="Orphanet:98885", source="MONDO:equivalentTo", source="DOID:0111057", source="ORDO:98885/e"} +xref: ICD10CM:D69.8 {source="Orphanet:98885/attributed", source="Orphanet:98885/ntbt", source="Orphanet:98885", source="DOID:0111057"} +xref: OMIM:614201 {source="Orphanet:98885", source="MONDO:equivalentTo", source="Orphanet:98885/e", source="DOID:0111057"} xref: Orphanet:73271 {source="MONDO:subClassOf", source="OMIM:614201"} xref: Orphanet:98885 {source="OMIM:614201", source="MONDO:equivalentTo", source="DOID:0111057"} xref: SCTID:765977002 {source="MONDO:equivalentTo"} @@ -271244,18 +271112,18 @@ synonym: "PSORP" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] synonym: "PSORS14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614204] xref: DOID:0080474 {source="MONDO:equivalentTo"} xref: GARD:0012819 {source="MONDO:equivalentTo"} -xref: ICD10CM:L40.1 {source="Orphanet:404546", source="ORDO:247353/specific", source="ORDO:404546/attributed", source="ORDO:404546/ntbt", source="ORDO:247353/e", source="Orphanet:247353"} -xref: ICD10CM:L40.2 {source="ORDO:163931/ntbt", source="ORDO:163931/index", source="Orphanet:163931"} +xref: ICD10CM:L40.1 {source="Orphanet:247353/specific", source="Orphanet:404546", source="Orphanet:247353/e", source="Orphanet:404546/attributed", source="Orphanet:404546/ntbt", source="Orphanet:247353"} +xref: ICD10CM:L40.2 {source="Orphanet:163931", source="Orphanet:163931/ntbt", source="Orphanet:163931/index"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C119057 {source="MONDO:equivalentTo"} -xref: OMIM:614204 {source="Orphanet:404546", source="MONDO:equivalentTo", source="ORDO:404546/ntbt", source="ORDO:247353/ntbt", source="Orphanet:247353"} -xref: OMIM:616106 {source="MONDO:relatedTo", source="ORDO:247353/btnt", source="Orphanet:247353"} +xref: OMIM:614204 {source="Orphanet:404546", source="Orphanet:404546/ntbt", source="MONDO:equivalentTo", source="Orphanet:247353/ntbt", source="Orphanet:247353"} +xref: OMIM:616106 {source="MONDO:relatedTo", source="Orphanet:247353/btnt", source="Orphanet:247353"} xref: Orphanet:163931 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:247353 {source="OMIM:614204", source="MONDO:equivalentTo"} xref: Orphanet:404546 {source="OMIM:614204", source="MONDO:equivalentTo"} xref: SCTID:238612002 {source="MONDO:relatedTo"} xref: SCTID:83839005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C0343055 {source="NCIT:C119057", source="NCBI:mim2gene_medline", source="OMIM:614204", source="MONDO:notFoundInDiseaseSubset", source="ORDO:247353/e", source="Orphanet:247353"} +xref: UMLS:C0343055 {source="NCIT:C119057", source="NCBI:mim2gene_medline", source="OMIM:614204", source="Orphanet:247353/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:247353"} xref: UMLS:CN199965 {source="MONDO:equivalentTo"} xref: UMLS:CN226196 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} is_a: MONDO:0003847 {source="OMIM:614204"} ! Mendelian disease @@ -271314,7 +271182,7 @@ synonym: "PGAP2 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO xref: OMIM:614207 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:614207"} xref: UMLS:C3280153 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614207"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614207", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614207", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17893 ! PGAP2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17893 {source="mim2gene_medgen"} ! PGAP2 @@ -271366,8 +271234,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 33" NARROW [DOID:0110562] synonym: "autosomal dominant nonsyndromic deafness 33" NARROW [OMIM:614211] synonym: "autosomal dominant nonsyndromic deafness type 33" NARROW [DOID:0110562, MONDORULE:2] -synonym: "deafness, autosomal dominant 33" NARROW [OMIM:614211, OMIM:genemap2] -synonym: "deafness, autosomal dominant 33" NARROW [MONDO:Lexical, OMIM:614211] +synonym: "deafness, autosomal dominant 33" NARROW [MONDO:Lexical, OMIM:614211, OMIM:genemap2] synonym: "DFNA33" NARROW ABBREVIATION [DOID:0110562, MONDO:Lexical, OMIM:614211] xref: DOID:0110562 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110562"} @@ -271393,7 +271260,7 @@ xref: OMIM:614212 {source="MONDO:equivalentTo"} xref: Orphanet:263524 {source="MONDO:subClassOf", source="OMIM:614212"} xref: UMLS:C3280160 {source="OMIM:614212", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000166 {source="DC-OMIM:614212", source="MONDO:Redundant", source="OMIM:614212"} ! encephalopathy, acute, infection-induced -is_a: MONDO:0016991 {source="ORDO:263524/btnt"} ! acute necrotizing encephalopathy of childhood +is_a: MONDO:0016991 {source="Orphanet:263524/btnt"} ! acute necrotizing encephalopathy of childhood intersection_of: MONDO:0000166 ! encephalopathy, acute, infection-induced intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2330 ! CPT2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2330 {source="mim2gene_medgen"} ! CPT2 @@ -271414,7 +271281,7 @@ xref: DOID:0070147 {source="MONDO:equivalentTo"} xref: OMIM:614213 {source="MONDO:equivalentTo", source="DOID:0070147"} xref: Orphanet:970 {source="MONDO:subClassOf", source="OMIM:614213"} xref: UMLS:C3280168 {source="OMIM:614213", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019941 {source="DOID:0070147", source="MONDO:Redundant", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 +is_a: MONDO:0019941 {source="DOID:0070147", source="MONDO:Redundant", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 ! KIF1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 {source="mim2gene_medgen"} ! KIF1A @@ -271432,7 +271299,7 @@ synonym: "DOCK6 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patter xref: OMIM:614219 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:subClassOf", source="OMIM:614219"} xref: UMLS:C3280182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614219"} -is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614219", source="ORDO:974/btnt"} ! Adams-Oliver syndrome +is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614219", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome intersection_of: MONDO:0007034 ! Adams-Oliver syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19189 ! DOCK6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19189 {source="mim2gene_medgen"} ! DOCK6 @@ -271506,7 +271373,7 @@ synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614224] synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247] synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224] xref: GARD:0012779 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="ORDO:284247/e"} +xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="Orphanet:284247/e"} xref: Orphanet:284247 {source="OMIM:614224", source="MONDO:equivalentTo"} xref: SCTID:764452004 {source="MONDO:equivalentTo"} xref: UMLS:C3280205 {source="OMIM:614224", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -271588,8 +271455,8 @@ synonym: "CMT2O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614228, Orphanet:284232 synonym: "DYNC1H1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110175 {source="MONDO:equivalentTo"} xref: GARD:0012434 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:284232", source="ORDO:284232/attributed", source="ORDO:284232/ntbt", source="DOID:0110175"} -xref: OMIM:614228 {source="Orphanet:284232", source="ORDO:284232/e", source="MONDO:equivalentTo", source="DOID:0110175"} +xref: ICD10CM:G60.0 {source="Orphanet:284232/attributed", source="Orphanet:284232/ntbt", source="Orphanet:284232", source="DOID:0110175"} +xref: OMIM:614228 {source="Orphanet:284232", source="MONDO:equivalentTo", source="Orphanet:284232/e", source="DOID:0110175"} xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source="DOID:0110175"} xref: UMLS:C3280220 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614228"} is_a: MONDO:0015626 {source="DOID:0110175/inferred", source="MONDO:Redundant", source="OMIM:614228", source="Orphanet:284232/inferred"} ! Charcot-Marie-Tooth disease @@ -271614,8 +271481,8 @@ synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229] synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080063 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="Orphanet:284271", source="ORDO:284271/attributed", source="ORDO:284271/ntbt"} -xref: OMIM:614229 {source="DOID:0080063", source="Orphanet:284271", source="MONDO:equivalentTo", source="ORDO:284271/e"} +xref: ICD10CM:G11.1 {source="Orphanet:284271", source="Orphanet:284271/attributed", source="Orphanet:284271/ntbt"} +xref: OMIM:614229 {source="DOID:0080063", source="Orphanet:284271", source="MONDO:equivalentTo", source="Orphanet:284271/e"} xref: Orphanet:284271 {source="MONDO:equivalentTo", source="OMIM:614229"} xref: UMLS:C3280226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614229"} is_a: MONDO:0020047 {source="MONDO:Redundant", source="Orphanet:284271"} ! autosomal recessive syndromic cerebellar ataxia @@ -271636,8 +271503,8 @@ synonym: "Del(8)(q21.11)" EXACT [Orphanet:284160] synonym: "deletion 8q21.11" EXACT [Orphanet:284160] synonym: "monosomy 8q21.11" EXACT [Orphanet:284160] xref: DOID:0060425 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="DOID:0060425", source="ORDO:284160/attributed", source="ORDO:284160/ntbt", source="Orphanet:284160"} -xref: OMIM:614230 {source="MONDO:equivalentTo", source="DOID:0060425", source="Orphanet:284160", source="ORDO:284160/e"} +xref: ICD10CM:Q93.5 {source="Orphanet:284160/attributed", source="Orphanet:284160/ntbt", source="DOID:0060425", source="Orphanet:284160"} +xref: OMIM:614230 {source="Orphanet:284160/e", source="MONDO:equivalentTo", source="DOID:0060425", source="Orphanet:284160"} xref: Orphanet:284160 {source="MONDO:equivalentTo", source="DOID:0060425", source="OMIM:614230"} xref: SCTID:718615003 {source="MONDO:equivalentTo"} xref: UMLS:C3280231 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614230"} @@ -271672,9 +271539,9 @@ synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical, OM synonym: "melanosis diffusa congenita" EXACT [Orphanet:79146] synonym: "melanosis universalis hereditaria" EXACT [Orphanet:79146] synonym: "universal melanosis" EXACT [Orphanet:79146] -xref: ICD10CM:L81.4 {source="ORDO:79146/attributed", source="ORDO:79146/ntbt", source="Orphanet:79146"} -xref: OMIM:145250 {source="ORDO:79146/btnt", source="MONDO:superClassOf", source="Orphanet:79146"} -xref: OMIM:614233 {source="MONDO:equivalentTo", source="ORDO:79146/e", source="Orphanet:79146"} +xref: ICD10CM:L81.4 {source="Orphanet:79146/attributed", source="Orphanet:79146/ntbt", source="Orphanet:79146"} +xref: OMIM:145250 {source="MONDO:superClassOf", source="Orphanet:79146/btnt", source="Orphanet:79146"} +xref: OMIM:614233 {source="Orphanet:79146/e", source="MONDO:equivalentTo", source="Orphanet:79146"} xref: Orphanet:79146 {source="OMIM:614233", source="MONDO:equivalentTo"} xref: SCTID:715630006 {source="MONDO:equivalentTo"} xref: UMLS:C1835039 {source="MONDO:superClassOf", source="Orphanet:79146"} @@ -271697,7 +271564,7 @@ xref: OMIM:614237 {source="MONDO:equivalentTo", source="DOID:0110706"} xref: Orphanet:55654 {source="MONDO:subClassOf", source="OMIM:614237"} xref: UMLS:C3280252 {source="NCBI:mim2gene_medline", source="OMIM:614237", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110706", source="MONDO:Redundant", source="OMIM:614237", source="indirect"} ! hypotrichosis -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex property_value: confidence "0.1864800188354636" xsd:double [Term] @@ -271713,7 +271580,7 @@ xref: OMIM:614238 {source="MONDO:equivalentTo", source="DOID:0110707"} xref: Orphanet:55654 {source="MONDO:subClassOf", source="OMIM:614238"} xref: UMLS:C3280253 {source="OMIM:614238", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110707", source="MONDO:Redundant", source="OMIM:614238", source="indirect"} ! hypotrichosis -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex property_value: confidence "0.1864800188354636" xsd:double [Term] @@ -271753,7 +271620,7 @@ synonym: "NRCLP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614250] xref: OMIM:614250 {source="MONDO:equivalentTo"} xref: Orphanet:2073 {source="MONDO:subClassOf", source="OMIM:614250"} xref: UMLS:C3280266 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614250"} -is_a: MONDO:0016158 {source="ORDO:2073/btnt"} ! narcolepsy-cataplexy syndrome +is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome is_a: MONDO:0021107 {source="MONDO:Redundant", source="OMIM:614250", source="indirect"} ! narcolepsy intersection_of: MONDO:0021107 ! narcolepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7197 ! MOG @@ -271779,7 +271646,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3296 ! EIF4G1 intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3296 {source="mim2gene_medgen"} ! EIF4G1 -relationship: predisposes_towards MONDO:0008199 {source="MONDO:Redundant", source="ORDO:411602/btnt"} ! late-onset Parkinson disease +relationship: predisposes_towards MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.3096492687679333" xsd:double @@ -271910,9 +271777,9 @@ synonym: "MIC-CM syndrome" EXACT [Orphanet:294016] synonym: "MICCAP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614261] synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261] synonym: "microcephaly-cutaneous capillary malformation syndrome" EXACT [Orphanet:294016] -xref: ICD10CM:Q87.8 {source="ORDO:294016/attributed", source="ORDO:294016/ntbt", source="Orphanet:294016"} +xref: ICD10CM:Q87.8 {source="Orphanet:294016/attributed", source="Orphanet:294016/ntbt", source="Orphanet:294016"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:614261 {source="MONDO:equivalentTo", source="ORDO:294016/e", source="Orphanet:294016"} +xref: OMIM:614261 {source="Orphanet:294016/e", source="MONDO:equivalentTo", source="Orphanet:294016"} xref: Orphanet:294016 {source="MONDO:equivalentTo", source="OMIM:614261"} xref: SCTID:703369003 {source="MONDO:equivalentTo"} xref: UMLS:C3280296 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614261"} @@ -271942,9 +271809,9 @@ synonym: "combined malonic and methylmalonic acidemia" EXACT CLINGEN_PREFERRED [ synonym: "combined malonic and methylmalonic aciduria" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504] xref: DOID:0111263 {source="MONDO:equivalentTo"} xref: GARD:0010818 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E71.1 {source="ORDO:289504/attributed", source="ORDO:289504/ntbt", source="Orphanet:289504"} +xref: ICD10CM:E71.1 {source="Orphanet:289504", source="Orphanet:289504/attributed", source="Orphanet:289504/ntbt"} xref: MESH:C580002 {source="MONDO:equivalentTo"} -xref: OMIM:614265 {source="MONDO:equivalentTo", source="ORDO:289504/e", source="Orphanet:289504"} +xref: OMIM:614265 {source="MONDO:equivalentTo", source="Orphanet:289504", source="Orphanet:289504/e"} xref: Orphanet:289504 {source="MONDO:equivalentTo", source="OMIM:614265"} xref: SCTID:702365002 {source="MONDO:equivalentTo"} xref: UMLS:C3280314 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:289504", source="OMIM:614265"} @@ -272020,9 +271887,9 @@ synonym: "46XY sex reversal 8, modifier of" EXACT [OMIM:614279, OMIM:genemap2] synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" RELATED [OMIM:614279] synonym: "SRXY8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614279] xref: DOID:0111773 {source="MONDO:equivalentTo"} -xref: ICD10CM:E29.1 {source="ORDO:443087/attributed", source="ORDO:443087/ntbt", source="Orphanet:443087"} +xref: ICD10CM:E29.1 {source="Orphanet:443087/attributed", source="Orphanet:443087/ntbt", source="Orphanet:443087"} xref: MESH:C564109 {source="MONDO:equivalentTo"} -xref: OMIM:614279 {source="MONDO:equivalentTo", source="ORDO:443087/e", source="Orphanet:443087"} +xref: OMIM:614279 {source="Orphanet:443087/e", source="MONDO:equivalentTo", source="Orphanet:443087"} xref: Orphanet:443087 {source="MONDO:equivalentTo"} xref: Orphanet:90796 {source="MONDO:subClassOf", source="OMIM:614279"} xref: SCTID:49013001 {source="MONDO:equivalentTo"} @@ -272064,7 +271931,7 @@ xref: OMIM:614284 {source="MONDO:equivalentTo"} xref: Orphanet:250984 {source="MONDO:subClassOf", source="OMIM:614284"} xref: Orphanet:828 {source="MONDO:subClassOf", source="OMIM:614284"} xref: UMLS:C3280342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614284"} -is_a: MONDO:0016647 {source="MONDO:Redundant", source="ORDO:250984/btnt"} ! autosomal recessive Stickler syndrome +is_a: MONDO:0016647 {source="MONDO:Redundant", source="Orphanet:250984/btnt"} ! autosomal recessive Stickler syndrome is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:614284", source="indirect"} ! Stickler syndrome intersection_of: MONDO:0016647 ! autosomal recessive Stickler syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2218 ! COL9A2 @@ -272091,13 +271958,13 @@ synonym: "tetrasomy chromosome 18p" RELATED [GARD:0000035] synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290] synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307] xref: GARD:0000035 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="ORDO:3307/attributed", source="ORDO:3307/ntbt", source="Orphanet:3307"} +xref: ICD10CM:Q99.8 {source="Orphanet:3307", source="Orphanet:3307/attributed", source="Orphanet:3307/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538306 {source="MONDO:equivalentTo"} -xref: OMIM:614290 {source="MONDO:equivalentTo", source="Orphanet:3307", source="ORDO:3307/e"} +xref: OMIM:614290 {source="MONDO:equivalentTo", source="Orphanet:3307", source="Orphanet:3307/e"} xref: Orphanet:3307 {source="GARD:0000035", source="MONDO:equivalentTo", source="OMIM:614290"} xref: SCTID:698849002 {source="MONDO:equivalentTo"} -xref: UMLS:C0795868 {source="GARD:0000035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614290", source="Orphanet:3307", source="ORDO:3307/e"} +xref: UMLS:C0795868 {source="GARD:0000035", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614290", source="Orphanet:3307", source="Orphanet:3307/e"} is_a: MONDO:0003847 {source="Orphanet:3307/inferred", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0016951 {source="Orphanet:3307"} ! partial trisomy/tetrasomy of the short arm of chromosome 18 relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orcid.org/0000-0002-4142-7153"} ! 18p (Human) @@ -272118,7 +271985,7 @@ synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [OMIM:6142 xref: OMIM:614291 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="MONDO:subClassOf", source="OMIM:614291"} xref: UMLS:C3280345 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614291"} -is_a: MONDO:0003582 {source="DC-OMIM:614291", source="MONDO:Redundant", source="OMIM:614291", source="ORDO:145/btnt"} ! hereditary breast ovarian cancer syndrome +is_a: MONDO:0003582 {source="DC-OMIM:614291", source="MONDO:Redundant", source="OMIM:614291", source="Orphanet:145/btnt"} ! hereditary breast ovarian cancer syndrome intersection_of: MONDO:0003582 ! hereditary breast ovarian cancer syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9823 ! RAD51D relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9823 {source="mim2gene_medgen"} ! RAD51D @@ -272132,7 +271999,7 @@ synonym: "myopia, high, with cataract and vitreoretinal degeneration" EXACT [MON xref: OMIM:614292 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="MONDO:subClassOf", source="OMIM:614292"} xref: UMLS:C3280346 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614292"} -is_a: MONDO:0001384 {source="ORDO:98619/btnt"} ! myopia +is_a: MONDO:0001384 {source="Orphanet:98619/btnt"} ! myopia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19317 {source="mim2gene_medgen"} ! P3H2 relationship: has_modifier MONDO:0021136 {source="MONDO:0020207"} ! rare property_value: confidence "29.333333333333442" xsd:double @@ -272153,7 +272020,7 @@ xref: Orphanet:254688 {source="MONDO:subClassOf", source="OMIM:614293"} xref: Orphanet:99927 {source="MONDO:subClassOf", source="OMIM:614293"} xref: UMLS:C0678213 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C3280352 {source="MONDO:equivalentTo", source="OMIM:614293"} -is_a: MONDO:0016785 {source="MONDO:Redundant", source="ORDO:254688/btnt"} ! complete hydatidiform mole +is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole is_a: MONDO:0018944 {source="DC-OMIM:614293"} ! gestational trophoblastic neoplasm intersection_of: MONDO:0016785 ! complete hydatidiform mole intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/33699 ! KHDC3L @@ -272185,9 +272052,9 @@ synonym: "Wolfram-like syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Wolfram-like syndrome, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614296] xref: DOID:0080584 {source="MONDO:equivalentTo"} xref: EFO:0009063 {source="MONDO:equivalentTo"} -xref: ICD10CM:E13.8 {source="ORDO:411590/attributed", source="ORDO:411590/ntbt", source="Orphanet:411590"} +xref: ICD10CM:E13.8 {source="Orphanet:411590/attributed", source="Orphanet:411590/ntbt", source="Orphanet:411590"} xref: MESH:C565631 {source="MONDO:equivalentTo"} -xref: OMIM:614296 {source="MONDO:equivalentTo", source="ORDO:411590/e", source="Orphanet:411590"} +xref: OMIM:614296 {source="Orphanet:411590/e", source="MONDO:equivalentTo", source="Orphanet:411590"} xref: Orphanet:411590 {source="MONDO:equivalentTo", source="OMIM:614296"} xref: SCTID:734022008 {source="MONDO:equivalentTo"} xref: UMLS:C1857286 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -272216,9 +272083,9 @@ synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutatio synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560] xref: DOID:0110738 {source="MONDO:equivalentTo"} xref: GARD:0012569 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G23.0 {source="DOID:0110738", source="ORDO:289560/attributed", source="ORDO:289560/ntbt", source="Orphanet:289560"} +xref: ICD10CM:G23.0 {source="DOID:0110738", source="Orphanet:289560/attributed", source="Orphanet:289560/ntbt", source="Orphanet:289560"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:614298 {source="DOID:0110738", source="MONDO:equivalentTo", source="ORDO:289560/e", source="Orphanet:289560"} +xref: OMIM:614298 {source="Orphanet:289560/e", source="DOID:0110738", source="MONDO:equivalentTo", source="Orphanet:289560"} xref: Orphanet:289560 {source="DOID:0110738", source="MONDO:equivalentTo", source="OMIM:614298"} xref: SCTID:709415008 {source="MONDO:equivalentTo"} xref: UMLS:C3280371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614298"} @@ -272242,8 +272109,8 @@ synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [DOID:0080134, MONDORULE:1, OMIM:614299] xref: DOID:0080134 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:401874", source="ORDO:401874/attributed", source="ORDO:401874/ntbt"} -xref: OMIM:614299 {source="ORDO:401874/e", source="Orphanet:401874", source="DOID:0080134", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.8 {source="Orphanet:401874/attributed", source="Orphanet:401874/ntbt", source="Orphanet:401874"} +xref: OMIM:614299 {source="Orphanet:401874", source="DOID:0080134", source="MONDO:equivalentTo", source="Orphanet:401874/e"} xref: Orphanet:289573 {source="MONDO:subClassOf", source="OMIM:614299"} xref: Orphanet:401874 {source="OMIM:614299", source="MONDO:equivalentTo"} xref: UMLS:C3280378 {source="OMIM:614299", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -272277,7 +272144,7 @@ xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:614302"} xref: Orphanet:98853 {source="MONDO:subClassOf", source="OMIM:614302"} xref: UMLS:C3553060 {source="OMIM:614302", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016830 {source="MONDO:Redundant", source="OMIM:614302", source="indirect"} ! Emery-Dreifuss muscular dystrophy -is_a: MONDO:0020336 {source="MONDO:Redundant", source="ORDO:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy +is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28472 ! TMEM43 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28472 {source="mim2gene_medgen"} ! TMEM43 @@ -272298,7 +272165,7 @@ synonym: "familial keratoconus with cataract" EXACT [Orphanet:293936] synonym: "keratoconus with cataract" RELATED [OMIM:614303] synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [OMIM:614303] synonym: "KTCNCT" EXACT ABBREVIATION [Orphanet:293936] -xref: OMIM:614303 {source="ORDO:293936/e", source="Orphanet:293936", source="MONDO:equivalentTo"} +xref: OMIM:614303 {source="Orphanet:293936", source="MONDO:equivalentTo", source="Orphanet:293936/e"} xref: Orphanet:293936 {source="OMIM:614303", source="MONDO:equivalentTo"} xref: SCTID:722439009 {source="MONDO:equivalentTo"} xref: UMLS:C3280392 {source="NCBI:mim2gene_medline", source="OMIM:614303", source="MONDO:equivalentTo"} @@ -272356,7 +272223,7 @@ xref: UMLS:C3280428 {source="NCIT:C119677", source="MONDO:equivalentTo", source= is_a: MONDO:0019233 {source="https://github.com/monarch-initiative/mondo/issues/1196", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/451 {source="mim2gene_medgen"} ! AMACR property_value: confidence "5.666666666666666" xsd:double -property_value: excluded_subClassOf "'congenital bile acid synthesis defect 4'" xsd:string {source="ORDO:79095/btnt"} +property_value: excluded_subClassOf "'congenital bile acid synthesis defect 4'" xsd:string {source="Orphanet:79095/btnt"} [Term] id: MONDO:0013682 @@ -272366,7 +272233,7 @@ synonym: "VUR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614317] xref: OMIM:614317 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:614317"} xref: UMLS:C3280439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614317"} -is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614317", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614317", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux property_value: confidence "2.5986147714285717" xsd:double [Term] @@ -272377,7 +272244,7 @@ synonym: "VUR5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614318] xref: OMIM:614318 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:614318"} xref: UMLS:C3280440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614318"} -is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614318", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614318", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux property_value: confidence "2.5986147714285717" xsd:double [Term] @@ -272388,7 +272255,7 @@ synonym: "VUR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614319] xref: OMIM:614319 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:614319"} xref: UMLS:C3280441 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614319"} -is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614319", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614319", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux property_value: confidence "2.5986147714285717" xsd:double [Term] @@ -272409,7 +272276,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1100 ! BRCA1 intersection_of: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1100 {source="OMIM:614320", source="mim2gene_medgen"} ! BRCA1 -relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="ORDO:1333/btnt"} ! familial pancreatic carcinoma +relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt"} ! familial pancreatic carcinoma property_value: confidence "2.423076923076922" xsd:double [Term] @@ -272446,8 +272313,8 @@ synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE: synonym: "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080060 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="Orphanet:284282", source="ORDO:284282/attributed", source="ORDO:284282/ntbt"} -xref: OMIM:614322 {source="Orphanet:284282", source="MONDO:equivalentTo", source="DOID:0080060", source="ORDO:284282/e"} +xref: ICD10CM:G11.1 {source="Orphanet:284282", source="Orphanet:284282/attributed", source="Orphanet:284282/ntbt"} +xref: OMIM:614322 {source="Orphanet:284282", source="MONDO:equivalentTo", source="Orphanet:284282/e", source="DOID:0080060"} xref: Orphanet:284282 {source="OMIM:614322", source="MONDO:equivalentTo"} xref: UMLS:C3280452 {source="OMIM:614322", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:284282"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome @@ -272478,13 +272345,13 @@ synonym: "zebra-like hyperpigmentation" RELATED [GARD:0011004] synonym: "zosteriform hyperpigmentation" RELATED [GARD:0011004] synonym: "zosteriform lentiginous nevus" RELATED [GARD:0011004] xref: GARD:0011004 {source="MONDO:equivalentTo"} -xref: ICD10CM:L81.4 {source="Orphanet:79150", source="ORDO:79150/attributed", source="ORDO:79150/ntbt"} +xref: ICD10CM:L81.4 {source="Orphanet:79150", source="Orphanet:79150/attributed", source="Orphanet:79150/ntbt"} xref: NCIT:C3924 {source="MONDO:equivalentTo"} -xref: OMIM:614323 {source="ORDO:79150/e", source="MONDO:equivalentTo", source="Orphanet:79150"} +xref: OMIM:614323 {source="MONDO:equivalentTo", source="Orphanet:79150", source="Orphanet:79150/e"} xref: Orphanet:79150 {source="OMIM:614323", source="MONDO:equivalentTo"} xref: SCTID:403803002 {source="MONDO:equivalentTo"} xref: UMLS:C0263579 {source="NCIT:C3924", source="OMIM:614323", source="MONDO:equivalentTo"} -xref: UMLS:C1304501 {source="ORDO:79150/e", source="OMIM:614323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79150"} +xref: UMLS:C1304501 {source="OMIM:614323", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79150", source="Orphanet:79150/e"} is_a: MONDO:0006499 {source="NCIT:C3924"} ! hamartoma is_a: MONDO:0011500 ! Becker nevus syndrome is_a: MONDO:0019289 {source="Orphanet:79150", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin @@ -272504,7 +272371,7 @@ xref: DOID:0080495 {source="MONDO:equivalentTo"} xref: OMIM:614324 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="MONDO:subClassOf", source="OMIM:614324"} xref: UMLS:C3280471 {source="OMIM:614324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009299 {source="MONDO:Redundant", source="OMIM:614324", source="ORDO:243/btnt"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="MONDO:Redundant", source="OMIM:614324", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis intersection_of: MONDO:0009299 ! 46 XX gonadal dysgenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17928 ! PSMC3IP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17928 {source="mim2gene_medgen"} ! PSMC3IP @@ -272523,7 +272390,7 @@ xref: DOID:0111332 {source="MONDO:equivalentTo"} xref: OMIM:614325 {source="MONDO:equivalentTo"} xref: Orphanet:221150 {source="MONDO:subClassOf", source="OMIM:614325"} xref: UMLS:C3280479 {source="NCBI:mim2gene_medline", source="OMIM:614325", source="MONDO:equivalentTo"} -is_a: MONDO:0016377 {source="MONDO:Redundant", source="ORDO:221150/btnt"} ! Pitt-Hopkins-like syndrome +is_a: MONDO:0016377 {source="MONDO:Redundant", source="Orphanet:221150/btnt"} ! Pitt-Hopkins-like syndrome intersection_of: MONDO:0016377 ! Pitt-Hopkins-like syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8008 ! NRXN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8008 {source="mim2gene_medgen"} ! NRXN1 @@ -272543,8 +272410,8 @@ synonym: "FS2" EXACT ABBREVIATION [Orphanet:391646] synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 2" EXACT [Orphanet:391646] synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2" EXACT [Orphanet:391646] synonym: "MMT type 2" EXACT [Orphanet:391646] -xref: ICD10CM:Q87.8 {source="ORDO:391646/attributed", source="ORDO:391646/ntbt", source="Orphanet:391646"} -xref: OMIM:614326 {source="MONDO:equivalentTo", source="Orphanet:391646", source="ORDO:391646/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:391646/attributed", source="Orphanet:391646/ntbt", source="Orphanet:391646"} +xref: OMIM:614326 {source="Orphanet:391646/e", source="MONDO:equivalentTo", source="Orphanet:391646"} xref: Orphanet:1305 {source="MONDO:subClassOf", source="OMIM:614326"} xref: Orphanet:391646 {source="OMIM:614326", source="MONDO:equivalentTo"} xref: UMLS:C3280489 {source="OMIM:614326", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -272566,7 +272433,7 @@ synonym: "TPDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614327] synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327] synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539] xref: GARD:0013219 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:614327 {source="MONDO:equivalentTo", source="ORDO:289539/e", source="Orphanet:289539"} +xref: OMIM:614327 {source="Orphanet:289539/e", source="MONDO:equivalentTo", source="Orphanet:289539"} xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"} xref: SCTID:765057007 {source="MONDO:equivalentTo"} xref: UMLS:C3280492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614327"} @@ -272586,7 +272453,7 @@ synonym: "NISBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614328] xref: OMIM:614328 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="MONDO:subClassOf", source="OMIM:614328"} xref: UMLS:C3280501 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614328"} -is_a: MONDO:0017411 {source="DC-OMIM:614328", source="MONDO:Redundant", source="OMIM:614328", source="ORDO:294023/btnt"} ! neonatal inflammatory skin and bowel disease +is_a: MONDO:0017411 {source="DC-OMIM:614328", source="MONDO:Redundant", source="OMIM:614328", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease intersection_of: MONDO:0017411 ! neonatal inflammatory skin and bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/195 ! ADAM17 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/195 {source="mim2gene_medgen"} ! ADAM17 @@ -272664,7 +272531,7 @@ xref: DOID:0111598 {source="MONDO:equivalentTo"} xref: OMIM:614335 {source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="MONDO:subClassOf", source="OMIM:614335"} xref: UMLS:C3280526 {source="OMIM:614335", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015240 {source="ORDO:1146/btnt"} ! digitotalar dysmorphism +is_a: MONDO:0015240 {source="Orphanet:1146/btnt"} ! digitotalar dysmorphism is_a: MONDO:0019942 ! distal arthrogryposis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7549 {source="mim2gene_medgen"} ! MYBPC1 property_value: confidence "2.220446049250313E-16" xsd:double @@ -272704,15 +272571,15 @@ synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical, OMIM:614338] synonym: "pancreatic triglyceride lipase deficiency" EXACT [Orphanet:309031] synonym: "PL deficiency" RELATED [OMIM:614338] synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614338] -xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309031", source="ORDO:309031/attributed", source="ORDO:309031/ntbt"} +xref: ICD10CM:K90.3 {source="Orphanet:309031/attributed", source="Orphanet:309031/ntbt", source="MONDO:relatedTo", source="Orphanet:309031"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C129030 {source="MONDO:equivalentTo"} -xref: OMIM:614338 {source="ORDO:309031/e", source="Orphanet:309031", source="MONDO:equivalentTo"} +xref: OMIM:614338 {source="Orphanet:309031", source="MONDO:equivalentTo", source="Orphanet:309031/e"} xref: Orphanet:309031 {source="MONDO:equivalentTo", source="OMIM:614338"} xref: Orphanet:309108 {source="MONDO:superClassOf", source="OMIM:614338"} xref: Orphanet:309111 {source="MONDO:superClassOf", source="OMIM:614338"} xref: SCTID:78960005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268240 {source="ORDO:309031/e", source="Orphanet:309031", source="MONDO:equivalentTo"} +xref: UMLS:C0268240 {source="Orphanet:309031", source="MONDO:equivalentTo", source="Orphanet:309031/e"} xref: UMLS:C0268241 {source="MONDO:superClassOf", source="OMIM:614338"} xref: UMLS:C3280527 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614338", source="NCIT:C129030"} xref: UMLS:C3280528 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614338"} @@ -272861,8 +272728,8 @@ subset: ordo_disease {source="Orphanet:397744"} synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical, OMIM:614369] synonym: "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" EXACT [Orphanet:397744] synonym: "PNMHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614369] -xref: ICD10CM:G60.0 {source="ORDO:397744/attributed", source="ORDO:397744/ntbt", source="Orphanet:397744"} -xref: OMIM:614369 {source="MONDO:equivalentTo", source="ORDO:397744/e", source="Orphanet:397744"} +xref: ICD10CM:G60.0 {source="Orphanet:397744", source="Orphanet:397744/attributed", source="Orphanet:397744/ntbt"} +xref: OMIM:614369 {source="MONDO:equivalentTo", source="Orphanet:397744", source="Orphanet:397744/e"} xref: Orphanet:397744 {source="OMIM:614369", source="MONDO:equivalentTo"} xref: UMLS:C3280556 {source="NCBI:mim2gene_medline", source="OMIM:614369", source="MONDO:equivalentTo"} is_a: MONDO:0015362 {source="Orphanet:397744"} ! autosomal dominant distal hereditary motor neuropathy @@ -272886,7 +272753,7 @@ synonym: "surfactant metabolism dysfunction, pulmonary, type 5" EXACT [MONDORULE xref: OMIM:614370 {source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="MONDO:subClassOf", source="OMIM:614370"} xref: UMLS:C3280574 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614370"} -is_a: MONDO:0012580 {source="MONDO:Redundant", source="OMIM:614370", source="ORDO:264675/btnt"} ! hereditary pulmonary alveolar proteinosis +is_a: MONDO:0012580 {source="MONDO:Redundant", source="OMIM:614370", source="Orphanet:264675/btnt"} ! hereditary pulmonary alveolar proteinosis intersection_of: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2436 ! CSF2RB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2436 {source="mim2gene_medgen"} ! CSF2RB @@ -272949,7 +272816,7 @@ xref: OMIM:614373 {source="MONDO:equivalentTo", source="DOID:0060207"} xref: Orphanet:300605 {source="MONDO:subClassOf", source="OMIM:614373"} xref: UMLS:C3280587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614373"} is_a: MONDO:0005144 {source="DOID:0060207", source="MONDO:Redundant", source="OMIM:614373", source="indirect"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017593 {source="ORDO:300605/btnt"} ! juvenile amyotrophic lateral sclerosis +is_a: MONDO:0017593 {source="Orphanet:300605/btnt"} ! juvenile amyotrophic lateral sclerosis is_a: MONDO:0024237 {source="MONDO:Redundant", source="indirect"} ! inherited neurodegenerative disorder intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8157 ! SIGMAR1 @@ -272964,7 +272831,7 @@ synonym: "aortic aneurysm, familial abdominal, 4" EXACT [MONDO:Lexical, OMIM:614 xref: OMIM:614375 {source="MONDO:equivalentTo"} xref: Orphanet:86 {source="MONDO:subClassOf", source="OMIM:614375"} xref: UMLS:C3280597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614375"} -is_a: MONDO:0007031 {source="OMIM:614375", source="ORDO:86/btnt"} ! familial abdominal aortic aneurysm +is_a: MONDO:0007031 {source="OMIM:614375", source="Orphanet:86/btnt"} ! familial abdominal aortic aneurysm property_value: confidence "1.144117647058823" xsd:double [Term] @@ -273012,7 +272879,7 @@ synonym: "cranioectodermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614378] xref: OMIM:614378 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="MONDO:subClassOf", source="OMIM:614378"} xref: UMLS:C3280616 {source="OMIM:614378", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009032 {source="OMIM:614378", source="ORDO:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="OMIM:614378", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18340 {source="mim2gene_medgen"} ! WDR19 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:614378"} ! Autosomal recessive inheritance property_value: confidence "2.47142857142857" xsd:double @@ -273033,7 +272900,7 @@ xref: OMIM:614379 {source="DOID:0060298", source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="MONDO:subClassOf", source="OMIM:614379", source="DOID:0060298"} xref: UMLS:C3280641 {source="OMIM:614379", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000015 {source="DC-OMIM:614379", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency +is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1324 ! C4B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1324 {source="mim2gene_medgen"} ! C4B @@ -273057,7 +272924,7 @@ xref: Orphanet:169147 {source="DOID:0060297", source="MONDO:subClassOf", source= xref: UMLS:C1852692 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3280642 {source="MONDO:equivalentTo", source="OMIM:614380"} is_a: MONDO:0000015 {source="DC-OMIM:614380", source="MONDO:Redundant"} ! classic complement early component deficiency -is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency +is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1323 ! C4A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1323 {source="mim2gene_medgen"} ! C4A @@ -273077,7 +272944,7 @@ xref: OMIM:614381 {source="MONDO:equivalentTo", source="DOID:0060797"} xref: Orphanet:88637 {source="MONDO:subClassOf", source="OMIM:614381"} xref: UMLS:C3280644 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614381"} is_a: MONDO:0019046 {source="DOID:0060797", source="DOID:0060797/inferred", source="MONDO:Redundant", source="OMIM:614381"} ! leukodystrophy -is_a: MONDO:0019505 {source="ORDO:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome +is_a: MONDO:0019505 {source="Orphanet:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30348 ! POLR3B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30348 {source="mim2gene_medgen"} ! POLR3B @@ -273156,8 +273023,8 @@ synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal synonym: "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" EXACT CLINGEN_PREFERRED [] synonym: "lethal encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [UMLS:C3280660] xref: DOID:0070347 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="Orphanet:330050", source="ORDO:330050/attributed", source="ORDO:330050/ntbt"} -xref: OMIM:614388 {source="MONDO:equivalentTo", source="Orphanet:330050", source="ORDO:330050/e"} +xref: ICD10CM:G31.8 {source="Orphanet:330050/attributed", source="Orphanet:330050/ntbt", source="Orphanet:330050"} +xref: OMIM:614388 {source="Orphanet:330050/e", source="MONDO:equivalentTo", source="Orphanet:330050"} xref: Orphanet:330050 {source="OMIM:614388", source="MONDO:equivalentTo"} xref: UMLS:C3280660 {source="OMIM:614388", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -273253,12 +273120,12 @@ synonym: "GVHD" EXACT ABBREVIATION [NCIT:C3063] synonym: "GVHDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614395] synonym: "homologous wasting disease" RELATED [MESH:D006086] synonym: "runt disease" EXACT [MESH:D006086, NCIT:C3063] -xref: ICD10CM:T86.0 {source="ORDO:39812/ntbt", source="Orphanet:39812"} +xref: ICD10CM:T86.0 {source="Orphanet:39812/ntbt", source="Orphanet:39812"} xref: ICD9:279.50 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10018651 {source="ORDO:39812/e", source="Orphanet:39812"} +xref: MedDRA:10018651 {source="Orphanet:39812/e", source="Orphanet:39812"} xref: MESH:D006086 {source="MONDO:equivalentTo"} xref: NCIT:C3063 {source="MONDO:equivalentTo"} -xref: OMIM:614395 {source="MONDO:equivalentTo", source="ORDO:39812/e", source="Orphanet:39812"} +xref: OMIM:614395 {source="Orphanet:39812/e", source="MONDO:equivalentTo", source="Orphanet:39812"} xref: Orphanet:39812 {source="MONDO:equivalentTo", source="OMIM:614395"} xref: SCTID:234646005 {source="MONDO:equivalentTo"} xref: UMLS:C0018133 {source="NCIT:C3063", source="MONDO:equivalentTo", source="Orphanet:39812"} @@ -273284,8 +273151,8 @@ synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [OMIM:614399] xref: DOID:0111333 {source="MONDO:equivalentTo"} xref: GARD:0012199 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G71.2 {source="ORDO:439212/attributed", source="ORDO:439212/ntbt", source="Orphanet:439212"} -xref: OMIM:614399 {source="MONDO:equivalentTo", source="Orphanet:439212", source="ORDO:439212/e"} +xref: ICD10CM:G71.2 {source="Orphanet:439212", source="Orphanet:439212/attributed", source="Orphanet:439212/ntbt"} +xref: OMIM:614399 {source="Orphanet:439212/e", source="MONDO:equivalentTo", source="Orphanet:439212"} xref: Orphanet:439212 {source="MONDO:equivalentTo"} xref: Orphanet:98920 {source="MONDO:subClassOf", source="OMIM:614399"} xref: UMLS:C3280679 {source="OMIM:614399", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -273346,7 +273213,7 @@ synonym: "MCHCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614407] synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical, OMIM:614407] synonym: "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" EXACT [Orphanet:329332] synonym: "Zaki-Gleeson syndrome" RELATED [OMIM:614407] -xref: OMIM:614407 {source="MONDO:equivalentTo", source="ORDO:329332/e", source="Orphanet:329332"} +xref: OMIM:614407 {source="Orphanet:329332/e", source="MONDO:equivalentTo", source="Orphanet:329332"} xref: Orphanet:329332 {source="MONDO:equivalentTo", source="OMIM:614407"} xref: UMLS:C3280692 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614407"} is_a: MONDO:0000508 {source="Orphanet:329332"} ! syndromic intellectual disability @@ -273368,7 +273235,7 @@ synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408] xref: OMIM:614408 {source="MONDO:equivalentTo"} xref: Orphanet:169189 {source="MONDO:subClassOf", source="OMIM:614408"} xref: UMLS:C3280703 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:614408"} -is_a: MONDO:0008048 {source="MONDO:Redundant", source="ORDO:169189/btnt"} ! autosomal dominant centronuclear myopathy +is_a: MONDO:0008048 {source="MONDO:Redundant", source="Orphanet:169189/btnt"} ! autosomal dominant centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:614408", source="indirect"} ! centronuclear myopathy intersection_of: MONDO:0008048 ! autosomal dominant centronuclear myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7566 ! MYF6 @@ -273390,8 +273257,8 @@ synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE: synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409] synonym: "SPG46" EXACT ABBREVIATION [DOID:0110798, MONDO:Lexical, OMIM:614409, Orphanet:320391] xref: DOID:0110798 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="DOID:0110798", source="MONDO:subClassOf", source="ORDO:320391/attributed", source="ORDO:320391/ntbt", source="Orphanet:320391"} -xref: OMIM:614409 {source="DOID:0110798", source="MONDO:equivalentTo", source="ORDO:320391/e", source="Orphanet:320391"} +xref: ICD10CM:G11.4 {source="DOID:0110798", source="MONDO:subClassOf", source="Orphanet:320391/attributed", source="Orphanet:320391/ntbt", source="Orphanet:320391"} +xref: OMIM:614409 {source="DOID:0110798", source="Orphanet:320391/e", source="MONDO:equivalentTo", source="Orphanet:320391"} xref: Orphanet:320391 {source="DOID:0110798", source="MONDO:equivalentTo", source="OMIM:614409"} xref: SCTID:723822009 {source="MONDO:equivalentTo"} xref: UMLS:C2828721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614409"} @@ -273410,8 +273277,7 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va synonym: "autosomal recessive deafness 96" NARROW [DOID:0110538] synonym: "autosomal recessive nonsyndromic deafness 96" NARROW [OMIM:614414] synonym: "autosomal recessive nonsyndromic deafness type 96" NARROW [DOID:0110538, MONDORULE:2] -synonym: "deafness, autosomal recessive 96" NARROW [MONDO:Lexical, OMIM:614414] -synonym: "deafness, autosomal recessive 96" NARROW [OMIM:614414, OMIM:genemap2] +synonym: "deafness, autosomal recessive 96" NARROW [MONDO:Lexical, OMIM:614414, OMIM:genemap2] synonym: "DFNB96" NARROW ABBREVIATION [DOID:0110538, MONDO:Lexical, OMIM:614414] xref: DOID:0110538 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110538"} @@ -273448,8 +273314,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:293925"} synonym: "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [OMIM:614416, OMIM:genemap2] synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical, OMIM:614416] synonym: "RHFCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614416] -xref: ICD10CM:Q87.5 {source="Orphanet:293925", source="ORDO:293925/attributed", source="ORDO:293925/ntbt"} -xref: OMIM:614416 {source="ORDO:293925/e", source="Orphanet:293925", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.5 {source="Orphanet:293925/attributed", source="Orphanet:293925/ntbt", source="Orphanet:293925"} +xref: OMIM:614416 {source="Orphanet:293925", source="MONDO:equivalentTo", source="Orphanet:293925/e"} xref: Orphanet:293925 {source="MONDO:equivalentTo", source="OMIM:614416"} xref: UMLS:C3280729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614416"} is_a: MONDO:0015338 {source="Orphanet:293925"} ! syndromic craniosynostosis @@ -273472,7 +273338,7 @@ xref: Orphanet:165805 {source="MONDO:subClassOf", source="OMIM:614417"} xref: UMLS:C3280730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614417"} is_a: MONDO:0005115 {source="OMIM:614417"} ! temporal lobe epilepsy is_a: MONDO:0013742 ! familial mesial temporal lobe epilepsy with febrile seizures -is_a: MONDO:0015586 {source="ORDO:163717/btnt"} ! benign familial mesial temporal lobe epilepsy +is_a: MONDO:0015586 {source="Orphanet:163717/btnt"} ! benign familial mesial temporal lobe epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17245 {source="mim2gene_medgen"} ! CPA6 property_value: confidence "0.26984126984127" xsd:double @@ -273483,7 +273349,7 @@ subset: ordo_disease {source="Orphanet:165805"} synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418] -xref: OMIM:614418 {source="MONDO:superClassOf", source="Orphanet:165805", source="ORDO:165805/e"} +xref: OMIM:614418 {source="Orphanet:165805/e", source="MONDO:superClassOf", source="Orphanet:165805"} xref: Orphanet:165805 {source="MONDO:equivalentTo"} is_a: MONDO:0000032 {source="DC-OMIM:614418", source="OMIM:614418"} ! febrile seizures, familial is_a: MONDO:0017704 {source="Orphanet:165805"} ! familial partial epilepsy @@ -273501,8 +273367,8 @@ synonym: "familial systemic lupus erythematosus" BROAD [Orphanet:300345] synonym: "SLEB16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614420] synonym: "systemic lupus erythematosus 16" EXACT [OMIM:614420] synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2, OMIM:614420] -xref: ICD10CM:M32.8 {source="Orphanet:300345", source="ORDO:300345/attributed", source="ORDO:300345/ntbt"} -xref: OMIM:614420 {source="Orphanet:300345", source="ORDO:300345/e", source="MONDO:equivalentTo"} +xref: ICD10CM:M32.8 {source="Orphanet:300345", source="Orphanet:300345/attributed", source="Orphanet:300345/ntbt"} +xref: OMIM:614420 {source="Orphanet:300345", source="MONDO:equivalentTo", source="Orphanet:300345/e"} xref: Orphanet:300345 {source="OMIM:614420", source="MONDO:equivalentTo"} xref: UMLS:C3280742 {source="OMIM:614420", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0007915 {source="DC-OMIM:614420", source="MONDO:Redundant"} ! systemic lupus erythematosus @@ -273529,9 +273395,9 @@ xref: Orphanet:217052 {source="OMIM:614422"} xref: Orphanet:98989 {source="MONDO:subClassOf", source="OMIM:614422"} xref: UMLS:C3280758 {source="OMIM:614422", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110252", source="MONDO:Redundant", source="OMIM:614422", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract -is_a: MONDO:0020374 {source="ORDO:98989/btnt"} ! cerulean cataract -is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt", source="indirect"} ! early-onset partial cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="indirect"} ! early-onset non-syndromic cataract +is_a: MONDO:0020374 {source="Orphanet:98989/btnt"} ! cerulean cataract +is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="indirect"} ! early-onset partial cataract relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "3.3019579861886594" xsd:double @@ -273551,9 +273417,9 @@ xref: Orphanet:220497 {source="MONDO:subClassOf", source="OMIM:614424", source=" xref: Orphanet:2318 {source="MONDO:subClassOf", source="OMIM:614424"} xref: Orphanet:475 {source="MONDO:subClassOf", source="OMIM:614424"} xref: UMLS:C3280766 {source="NCBI:mim2gene_medline", source="OMIM:614424", source="MONDO:equivalentTo"} -is_a: MONDO:0009480 {source="ORDO:2318/btnt"} ! Joubert syndrome with oculorenal defect -is_a: MONDO:0016364 {source="ORDO:220493/btnt"} ! Joubert syndrome with ocular defect -is_a: MONDO:0018772 {source="DOID:0110983", source="MONDO:Redundant", source="OMIM:614424", source="ORDO:475/btnt"} ! Joubert syndrome +is_a: MONDO:0009480 {source="Orphanet:2318/btnt"} ! Joubert syndrome with oculorenal defect +is_a: MONDO:0016364 {source="Orphanet:220493/btnt"} ! Joubert syndrome with ocular defect +is_a: MONDO:0018772 {source="DOID:0110983", source="MONDO:Redundant", source="OMIM:614424", source="Orphanet:475/btnt"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14432 ! TMEM237 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14432 {source="mim2gene_medgen"} ! TMEM237 @@ -273666,7 +273532,7 @@ synonym: "FBLN5 autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MOND xref: OMIM:614434 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="MONDO:subClassOf", source="OMIM:614434"} xref: UMLS:C3280794 {source="OMIM:614434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019571 {source="MONDO:Redundant", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa +is_a: MONDO:0019571 {source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa is_a: MONDO:0100237 {source="MONDO:Redundant", source="OMIM:614434", source="indirect"} ! inherited cutis laxa intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3602 ! FBLN5 @@ -273722,10 +273588,10 @@ synonym: "LRSAM1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO xref: DOID:0110169 {source="MONDO:equivalentTo"} xref: GARD:0009195 {source="MONDO:equivalentTo"} xref: GARD:0012435 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="ORDO:300319/attributed", source="ORDO:300319/ntbt", source="Orphanet:99941", source="Orphanet:300319", source="ORDO:99941/attributed", source="ORDO:99941/ntbt", source="DOID:0110169"} +xref: ICD10CM:G60.0 {source="Orphanet:99941/attributed", source="Orphanet:99941/ntbt", source="Orphanet:99941", source="Orphanet:300319/attributed", source="Orphanet:300319/ntbt", source="Orphanet:300319", source="DOID:0110169"} xref: OMIM:607706 {source="MONDO:relatedTo", source="GARD:0009195"} -xref: OMIM:608591 {source="Orphanet:99941", source="MONDO:equivalentTo", source="ORDO:99941/e"} -xref: OMIM:614436 {source="MONDO:equivalentTo", source="ORDO:300319/e", source="MONDO:preferredExternal", source="Orphanet:300319", source="DOID:0110169"} +xref: OMIM:608591 {source="Orphanet:99941", source="MONDO:equivalentTo", source="Orphanet:99941/e"} +xref: OMIM:614436 {source="Orphanet:300319/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:300319", source="DOID:0110169"} xref: Orphanet:300319 {source="OMIM:614436", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0110169"} xref: Orphanet:99941 {source="GARD:0009195", source="MONDO:equivalentTo", source="OMIM:608591"} xref: SCTID:719511005 {source="MONDO:equivalentTo"} @@ -273752,7 +273618,7 @@ xref: ICD10CM:Q82.8 {source="DOID:0070133"} xref: OMIM:614437 {source="DOID:0070133", source="MONDO:equivalentTo"} xref: Orphanet:90349 {source="MONDO:subClassOf", source="OMIM:614437"} xref: UMLS:C3280798 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614437"} -is_a: MONDO:0019572 {source="DOID:0070133", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1 +is_a: MONDO:0019572 {source="DOID:0070133", source="Orphanet:90349/btnt"} ! autosomal recessive cutis laxa type 1 is_a: MONDO:0100237 {source="DOID:0070133/inferred", source="MONDO:Redundant", source="OMIM:614437", source="indirect"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3219 ! EFEMP2 @@ -273776,8 +273642,8 @@ synonym: "PYCR1 deficiency" EXACT [Orphanet:293633] synonym: "pyrroline-5-carboxylate reductase 1 deficiency" EXACT [Orphanet:293633] xref: DOID:0070138 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="DOID:0070138"} -xref: ICD10CM:Q87.8 {source="ORDO:293633/attributed", source="ORDO:293633/ntbt", source="Orphanet:293633"} -xref: OMIM:614438 {source="MONDO:equivalentTo", source="DOID:0070138", source="ORDO:293633/e", source="Orphanet:293633"} +xref: ICD10CM:Q87.8 {source="Orphanet:293633/attributed", source="Orphanet:293633/ntbt", source="Orphanet:293633"} +xref: OMIM:614438 {source="Orphanet:293633/e", source="MONDO:equivalentTo", source="DOID:0070138", source="Orphanet:293633"} xref: Orphanet:293633 {source="MONDO:equivalentTo", source="OMIM:614438"} xref: Orphanet:2962 {source="MONDO:subClassOf", source="OMIM:614438"} xref: UMLS:C3280799 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614438"} @@ -273803,7 +273669,7 @@ synonym: "SLCO2A1 primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pat xref: OMIM:614441 {source="MONDO:equivalentTo"} xref: Orphanet:2796 {source="MONDO:subClassOf", source="OMIM:614441"} xref: UMLS:C3280800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614441"} -is_a: MONDO:0016620 {source="MONDO:0013756/inferred", source="MONDO:Redundant", source="OMIM:614441", source="ORDO:2796/btnt", source="indirect"} ! primary hypertrophic osteoarthropathy +is_a: MONDO:0016620 {source="MONDO:0013756/inferred", source="MONDO:Redundant", source="OMIM:614441", source="Orphanet:2796/btnt", source="indirect"} ! primary hypertrophic osteoarthropathy intersection_of: MONDO:0016620 ! primary hypertrophic osteoarthropathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10955 ! SLCO2A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10955 {source="mim2gene_medgen"} ! SLCO2A1 @@ -273827,7 +273693,7 @@ xref: Orphanet:97927 {source="MONDO:subClassOf", source="OMIM:614450"} xref: UMLS:C3280817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614450"} is_a: MONDO:0000045 {source="DC-OMIM:614450", source="MONDO:Redundant", source="OMIM:614450"} ! hypothyroidism, congenital, nongoitrous is_a: MONDO:0018612 {source="DOID:0070128", source="indirect"} ! congenital hypothyroidism -is_a: MONDO:0019995 {source="ORDO:97927/btnt"} ! peripheral resistance to thyroid hormones +is_a: MONDO:0019995 {source="Orphanet:97927/btnt"} ! peripheral resistance to thyroid hormones intersection_of: MONDO:0000045 ! hypothyroidism, congenital, nongoitrous intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11796 ! THRA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11796 {source="mim2gene_medgen"} ! THRA @@ -273852,8 +273718,8 @@ synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis synonym: "CMTDIE" EXACT ABBREVIATION [DOID:0110205, MONDO:Lexical, OMIM:614455, Orphanet:93114] xref: DOID:0110205 {source="MONDO:equivalentTo"} xref: GARD:0012011 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="DOID:0110205", source="Orphanet:93114", source="ORDO:93114/attributed", source="ORDO:93114/ntbt"} -xref: OMIM:614455 {source="ORDO:93114/e", source="DOID:0110205", source="MONDO:equivalentTo", source="Orphanet:93114"} +xref: ICD10CM:G60.0 {source="DOID:0110205", source="Orphanet:93114", source="Orphanet:93114/attributed", source="Orphanet:93114/ntbt"} +xref: OMIM:614455 {source="DOID:0110205", source="MONDO:equivalentTo", source="Orphanet:93114", source="Orphanet:93114/e"} xref: Orphanet:93114 {source="DOID:0110205", source="OMIM:614455", source="MONDO:equivalentTo"} xref: SCTID:722294004 {source="MONDO:equivalentTo"} xref: UMLS:C3280845 {source="OMIM:614455", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -273875,7 +273741,7 @@ synonym: "melanoma, cutaneous malignant, susceptibility to, 8" EXACT [MONDO:Lexi synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:614456] synonym: "MITF-related melanoma and renal cell carcinoma predisposition syndrome" EXACT [Orphanet:293822] synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [OMIM:614456] -xref: OMIM:614456 {source="MONDO:equivalentTo", source="ORDO:293822/e", source="Orphanet:293822"} +xref: OMIM:614456 {source="Orphanet:293822/e", source="MONDO:equivalentTo", source="Orphanet:293822"} xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"} xref: UMLS:C3152204 {source="OMIM:614456", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015356 {source="Orphanet:293822"} ! hereditary neoplastic syndrome @@ -273893,8 +273759,8 @@ synonym: "congenital ichthyosis-intellectual disability-spastic tetraplegia synd synonym: "ichthyosis, spastic quadriplegia, and intellectual disability" RELATED [MONDO:Lexical, OMIM:614457] synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] synonym: "ISQMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] -xref: ICD10CM:Q80.8 {source="Orphanet:352333", source="ORDO:352333/attributed", source="ORDO:352333/ntbt"} -xref: OMIM:614457 {source="Orphanet:352333", source="ORDO:352333/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q80.8 {source="Orphanet:352333/attributed", source="Orphanet:352333/ntbt", source="Orphanet:352333"} +xref: OMIM:614457 {source="Orphanet:352333", source="MONDO:equivalentTo", source="Orphanet:352333/e"} xref: Orphanet:352333 {source="OMIM:614457", source="MONDO:equivalentTo"} xref: UMLS:C3280856 {source="NCBI:mim2gene_medline", source="OMIM:614457", source="MONDO:equivalentTo"} is_a: MONDO:0017270 ! autosomal ichthyosis syndrome @@ -273912,7 +273778,7 @@ synonym: "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [OMIM:614458] synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical, OMIM:614458] synonym: "THMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614458] -xref: OMIM:614458 {source="MONDO:equivalentTo", source="Orphanet:293955", source="ORDO:293955/e"} +xref: OMIM:614458 {source="Orphanet:293955/e", source="MONDO:equivalentTo", source="Orphanet:293955"} xref: Orphanet:293955 {source="OMIM:614458", source="MONDO:equivalentTo"} xref: UMLS:C3280866 {source="OMIM:614458", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000152 {source="DC-OMIM:614458", source="OMIM:614458"} ! thiamine-responsive dysfunction syndrome @@ -273930,8 +273796,8 @@ synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [OMIM:614462] synonym: "PDHLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614462] synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical, OMIM:614462] xref: GARD:0012678 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:401859/attributed", source="ORDO:401859/ntbt", source="Orphanet:401859"} -xref: OMIM:614462 {source="MONDO:equivalentTo", source="Orphanet:401859", source="ORDO:401859/e"} +xref: ICD10CM:E88.8 {source="Orphanet:401859", source="Orphanet:401859/attributed", source="Orphanet:401859/ntbt"} +xref: OMIM:614462 {source="MONDO:equivalentTo", source="Orphanet:401859", source="Orphanet:401859/e"} xref: Orphanet:401859 {source="MONDO:equivalentTo", source="OMIM:614462"} xref: UMLS:C3280887 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614462"} is_a: MONDO:0018424 {source="MONDO:Redundant", source="Orphanet:401859"} ! inherited lipoic acid biosynthesis defect @@ -274022,8 +273888,8 @@ synonym: "plaid" EXACT [Orphanet:300359] synonym: "PLCG2 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [Orphanet:300359] xref: DOID:0090064 {source="MONDO:equivalentTo"} -xref: ICD10CM:L50.2 {source="DOID:0090064", source="ORDO:300359/attributed", source="ORDO:300359/ntbt", source="Orphanet:300359"} -xref: OMIM:614468 {source="DOID:0090064", source="ORDO:300359/e", source="MONDO:equivalentTo", source="Orphanet:300359"} +xref: ICD10CM:L50.2 {source="DOID:0090064", source="Orphanet:300359", source="Orphanet:300359/attributed", source="Orphanet:300359/ntbt"} +xref: OMIM:614468 {source="DOID:0090064", source="MONDO:equivalentTo", source="Orphanet:300359", source="Orphanet:300359/e"} xref: Orphanet:300359 {source="DOID:0090064", source="OMIM:614468", source="MONDO:equivalentTo"} xref: UMLS:C3280914 {source="NCBI:mim2gene_medline", source="OMIM:614468", source="MONDO:equivalentTo"} is_a: MONDO:0005492 {source="Orphanet:300359"} ! urticaria @@ -274052,8 +273918,8 @@ synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110 synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470] synonym: "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" EXACT [OMIM:614470, OMIM:genemap2] xref: DOID:0110117 {source="MONDO:equivalentTo"} -xref: ICD10CM:D72.8 {source="DOID:0110117", source="Orphanet:268114", source="ORDO:268114/attributed", source="ORDO:268114/ntbt"} -xref: OMIM:614470 {source="ORDO:268114/e", source="DOID:0110117", source="Orphanet:268114", source="MONDO:equivalentTo"} +xref: ICD10CM:D72.8 {source="Orphanet:268114/attributed", source="Orphanet:268114/ntbt", source="DOID:0110117", source="Orphanet:268114"} +xref: OMIM:614470 {source="DOID:0110117", source="Orphanet:268114", source="MONDO:equivalentTo", source="Orphanet:268114/e"} xref: Orphanet:268114 {source="DOID:0110117", source="MONDO:equivalentTo", source="OMIM:614470"} xref: SCTID:723508002 {source="MONDO:equivalentTo"} xref: UMLS:C2674723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614470"} @@ -274131,7 +273997,7 @@ synonym: "HTGTI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614480] synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical, OMIM:614480] synonym: "transient infantile hypertriglyceridemia and fatty liver" EXACT [Orphanet:300293] synonym: "transient infantile hypertriglyceridemia and hepatosteatosis" EXACT CLINGEN_PREFERRED [] -xref: OMIM:614480 {source="MONDO:equivalentTo", source="Orphanet:300293", source="ORDO:300293/e"} +xref: OMIM:614480 {source="Orphanet:300293/e", source="MONDO:equivalentTo", source="Orphanet:300293"} xref: Orphanet:300293 {source="MONDO:equivalentTo", source="OMIM:614480"} xref: UMLS:C3280953 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614480"} is_a: MONDO:0015508 {source="Orphanet:300293"} ! genetic parenchymatous liver disease @@ -274147,7 +274013,7 @@ synonym: "CCHLND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614482] synonym: "congenital cataract-deafness-severe developmental delay syndrome" EXACT [Orphanet:300313] synonym: "congenital cataracts, hearing loss, and neurodegeneration" RELATED [MONDO:Lexical, OMIM:614482] synonym: "lethal neurodegenerative disorder due to copper transport defect" EXACT [Orphanet:300313] -xref: OMIM:614482 {source="ORDO:300313/e", source="Orphanet:300313", source="MONDO:equivalentTo"} +xref: OMIM:614482 {source="Orphanet:300313", source="MONDO:equivalentTo", source="Orphanet:300313/e"} xref: Orphanet:300313 {source="MONDO:equivalentTo", source="OMIM:614482"} xref: UMLS:C3280965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614482"} is_a: MONDO:0019058 {source="Orphanet:300313"} ! neurometabolic disease @@ -274171,7 +274037,7 @@ xref: OMIM:614483 {source="MONDO:equivalentTo"} xref: Orphanet:2940 {source="MONDO:subClassOf", source="OMIM:614483"} xref: Orphanet:99810 {source="MONDO:subClassOf", source="OMIM:614483"} xref: UMLS:C3280970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614483"} -is_a: MONDO:0020496 {source="OMIM:614483", source="ORDO:99810/btnt"} ! familial porencephaly +is_a: MONDO:0020496 {source="OMIM:614483", source="Orphanet:99810/btnt"} ! familial porencephaly intersection_of: MONDO:0020496 ! familial porencephaly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2203 ! COL4A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2203 {source="mim2gene_medgen"} ! COL4A2 @@ -274192,7 +274058,7 @@ xref: OMIM:614485 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="MONDO:subClassOf", source="OMIM:614485"} xref: UMLS:C3280974 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614485"} is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:614485", source="indirect"} ! trigonocephaly -is_a: MONDO:0018065 {source="MONDO:Redundant", source="ORDO:3366/btnt"} ! isolated trigonocephaly +is_a: MONDO:0018065 {source="MONDO:Redundant", source="Orphanet:3366/btnt"} ! isolated trigonocephaly intersection_of: MONDO:0018065 ! isolated trigonocephaly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23399 ! FREM1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23399 {source="mim2gene_medgen"} ! FREM1 @@ -274208,9 +274074,9 @@ synonym: "THPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614486] synonym: "thrombomodulin-related coagulopathy" EXACT [Orphanet:436169] synonym: "thrombophilia 12 due to thrombomodulin defect" EXACT [OMIM:614486, OMIM:genemap2] synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical, OMIM:614486] -xref: ICD10CM:D68.3 {source="ORDO:436169/attributed", source="ORDO:436169/ntbt", source="Orphanet:436169"} +xref: ICD10CM:D68.3 {source="Orphanet:436169/attributed", source="Orphanet:436169/ntbt", source="Orphanet:436169"} xref: MESH:C566057 {source="MONDO:equivalentTo"} -xref: OMIM:614486 {source="MONDO:equivalentTo", source="Orphanet:436169", source="ORDO:436169/e"} +xref: OMIM:614486 {source="Orphanet:436169/e", source="MONDO:equivalentTo", source="Orphanet:436169"} xref: Orphanet:436169 {source="MONDO:equivalentTo"} xref: UMLS:C1861173 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3280976 {source="OMIM:614486", source="MONDO:equivalentTo", source="Orphanet:436169"} @@ -274236,8 +274102,8 @@ synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:61 synonym: "spastic ataxia type 5" EXACT [DOID:0050944, MONDORULE:1] synonym: "SPAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614487, Orphanet:313772] xref: DOID:0050944 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="ORDO:313772/attributed", source="ORDO:313772/ntbt", source="Orphanet:313772"} -xref: OMIM:614487 {source="MONDO:equivalentTo", source="DOID:0050944", source="Orphanet:313772", source="ORDO:313772/e"} +xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:313772/attributed", source="Orphanet:313772/ntbt", source="Orphanet:313772"} +xref: OMIM:614487 {source="Orphanet:313772/e", source="MONDO:equivalentTo", source="DOID:0050944", source="Orphanet:313772"} xref: Orphanet:313772 {source="OMIM:614487", source="MONDO:equivalentTo"} xref: UMLS:C3280977 {source="OMIM:614487", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017845 {source="DOID:0050944", source="MONDO:Redundant", source="OMIM:614487", source="Orphanet:313772/inferred"} ! spastic ataxia @@ -274258,9 +274124,9 @@ synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MOND synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491] synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491] synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -xref: ICD10CM:I15.1 {source="ORDO:88939/attributed", source="ORDO:88939/ntbt", source="Orphanet:88939"} +xref: ICD10CM:I15.1 {source="Orphanet:88939", source="Orphanet:88939/attributed", source="Orphanet:88939/ntbt"} xref: MESH:C564161 {source="MONDO:equivalentTo"} -xref: OMIM:614491 {source="MONDO:equivalentTo", source="ORDO:88939/e", source="Orphanet:88939"} +xref: OMIM:614491 {source="Orphanet:88939/e", source="MONDO:equivalentTo", source="Orphanet:88939"} xref: Orphanet:757 {source="MONDO:subClassOf", source="OMIM:614491"} xref: Orphanet:88939 {source="MONDO:equivalentTo", source="OMIM:614491"} xref: UMLS:C1840390 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:88939", source="OMIM:614491"} @@ -274280,9 +274146,9 @@ synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MOND synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492] synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492] synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -xref: ICD10CM:I15.1 {source="Orphanet:88940", source="ORDO:88940/attributed", source="ORDO:88940/ntbt"} +xref: ICD10CM:I15.1 {source="Orphanet:88940", source="Orphanet:88940/attributed", source="Orphanet:88940/ntbt"} xref: MESH:C564162 {source="MONDO:equivalentTo"} -xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="ORDO:88940/e"} +xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="Orphanet:88940/e"} xref: Orphanet:757 {source="MONDO:subClassOf", source="OMIM:614492"} xref: Orphanet:88940 {source="MONDO:equivalentTo", source="OMIM:614492"} xref: UMLS:C1840391 {source="Orphanet:88940", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614492"} @@ -274306,7 +274172,7 @@ xref: OMIM:277970 {source="MONDO:equivalentObsolete"} xref: OMIM:614493 {source="MONDO:equivalentTo"} xref: Orphanet:906 {source="MONDO:subClassOf", source="OMIM:614493"} xref: UMLS:C3281001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614493"} -is_a: MONDO:0021094 {source="MONDO:Redundant", source="ORDO:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="MONDO:Redundant", source="Orphanet:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12736 {source="OMIM:614493", source="mim2gene_medgen"} ! WIPF1 property_value: confidence "1.5846363636363643" xsd:double @@ -274335,8 +274201,8 @@ synonym: "PHA2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614495, Orphanet:300525 synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495] synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495] -xref: ICD10CM:I15.1 {source="ORDO:300525/attributed", source="ORDO:300525/ntbt", source="Orphanet:300525"} -xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="ORDO:300525/e"} +xref: ICD10CM:I15.1 {source="Orphanet:300525", source="Orphanet:300525/attributed", source="Orphanet:300525/ntbt"} +xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="Orphanet:300525/e"} xref: Orphanet:300525 {source="MONDO:equivalentTo", source="OMIM:614495"} xref: Orphanet:757 {source="MONDO:subClassOf", source="OMIM:614495"} xref: UMLS:C3469605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614495"} @@ -274358,8 +274224,8 @@ synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT [] synonym: "pseudohypoaldosteronism type 2 caused by mutation in Cul3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496] synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496] -xref: ICD10CM:I15.1 {source="Orphanet:300530", source="ORDO:300530/attributed", source="ORDO:300530/ntbt"} -xref: OMIM:614496 {source="Orphanet:300530", source="ORDO:300530/e", source="MONDO:equivalentTo"} +xref: ICD10CM:I15.1 {source="Orphanet:300530", source="Orphanet:300530/attributed", source="Orphanet:300530/ntbt"} +xref: OMIM:614496 {source="Orphanet:300530", source="MONDO:equivalentTo", source="Orphanet:300530/e"} xref: Orphanet:300530 {source="MONDO:equivalentTo", source="OMIM:614496"} xref: Orphanet:757 {source="MONDO:subClassOf", source="OMIM:614496"} xref: UMLS:C3469606 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614496"} @@ -274381,7 +274247,7 @@ synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1, OM xref: OMIM:614497 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:614497"} xref: UMLS:C3281027 {source="OMIM:614497", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:614497", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:614497", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/47 ! ABCB6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/47 {source="mim2gene_medgen"} ! ABCB6 @@ -274396,8 +274262,8 @@ synonym: "lethal neonatal spasticity-epileptic encephalopathy syndrome" EXACT CL synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical, OMIM:614498] synonym: "RMFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614498] xref: EFO:0009144 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="Orphanet:435845", source="ORDO:435845/attributed", source="ORDO:435845/ntbt"} -xref: OMIM:614498 {source="Orphanet:435845", source="ORDO:435845/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.4 {source="Orphanet:435845/attributed", source="Orphanet:435845/ntbt", source="Orphanet:435845"} +xref: OMIM:614498 {source="Orphanet:435845", source="MONDO:equivalentTo", source="Orphanet:435845/e"} xref: Orphanet:435845 {source="MONDO:equivalentTo"} xref: UMLS:C3281029 {source="OMIM:614498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="EFO:0009144", source="Orphanet:435845"} ! monogenic epilepsy @@ -274502,8 +274368,8 @@ synonym: "DDOST-CDG" EXACT CLINGEN_PREFERRED [] synonym: "DDOST-CDG (CDG-Ir)" RELATED [GARD:0012398] xref: DOID:0080569 {source="MONDO:equivalentTo"} xref: GARD:0012398 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:300536/attributed", source="ORDO:300536/ntbt", source="Orphanet:300536"} -xref: OMIM:614507 {source="MONDO:equivalentTo", source="Orphanet:300536", source="ORDO:300536/e"} +xref: ICD10CM:E77.8 {source="Orphanet:300536", source="Orphanet:300536/attributed", source="Orphanet:300536/ntbt"} +xref: OMIM:614507 {source="MONDO:equivalentTo", source="Orphanet:300536", source="Orphanet:300536/e"} xref: Orphanet:300536 {source="MONDO:equivalentTo", source="OMIM:614507"} xref: SCTID:733083006 {source="MONDO:equivalentTo"} xref: UMLS:C3281084 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614507"} @@ -274529,7 +274395,7 @@ synonym: "RAD51 familial congenital mirror movements" EXACT [MONDO:design_patter xref: OMIM:614508 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="MONDO:subClassOf", source="OMIM:614508"} xref: UMLS:C3281089 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614508"} -is_a: MONDO:0016558 {source="DC-OMIM:614508", source="MONDO:Redundant", source="OMIM:614508", source="ORDO:238722/btnt"} ! familial congenital mirror movements +is_a: MONDO:0016558 {source="DC-OMIM:614508", source="MONDO:Redundant", source="OMIM:614508", source="Orphanet:238722/btnt"} ! familial congenital mirror movements intersection_of: MONDO:0016558 ! familial congenital mirror movements intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9817 ! RAD51 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9817 {source="mim2gene_medgen"} ! RAD51 @@ -274545,7 +274411,7 @@ synonym: "thrombophilia due to protein S deficiency, autosomal recessive" EXACT xref: OMIM:614514 {source="MONDO:equivalentTo"} xref: Orphanet:743 {source="MONDO:subClassOf", source="OMIM:614514"} xref: UMLS:C3281092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614514"} -is_a: MONDO:0019144 {source="ORDO:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency +is_a: MONDO:0019144 {source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:614514", source="indirect"} ! inherited thrombophilia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9456 {source="mim2gene_medgen"} ! PROS1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -274633,7 +274499,7 @@ synonym: "recurrent duplication of 17q12" RELATED [GARD:0013296] synonym: "trisomy 17q12" EXACT [DOID:0060433, Orphanet:261272] xref: DOID:0060433 {source="MONDO:equivalentTo"} xref: GARD:0013296 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:614526 {source="ORDO:261272/e", source="Orphanet:261272", source="DOID:0060433", source="MONDO:equivalentTo"} +xref: OMIM:614526 {source="Orphanet:261272", source="DOID:0060433", source="MONDO:equivalentTo", source="Orphanet:261272/e"} xref: Orphanet:261272 {source="DOID:0060433", source="MONDO:equivalentTo", source="OMIM:614526"} xref: SCTID:764435003 {source="MONDO:equivalentTo"} xref: UMLS:C3281137 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614526"} @@ -274657,8 +274523,8 @@ synonym: "Del(17)(q12)" EXACT [Orphanet:261265] synonym: "monosomy 17q12" EXACT [Orphanet:261265] xref: DOID:0060404 {source="MONDO:equivalentTo"} xref: GARD:0013297 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:261265/attributed", source="ORDO:261265/ntbt", source="Orphanet:261265", source="DOID:0060404"} -xref: OMIM:614527 {source="ORDO:261265/e", source="MONDO:equivalentTo", source="Orphanet:261265", source="DOID:0060404"} +xref: ICD10CM:Q93.5 {source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/attributed", source="Orphanet:261265/ntbt"} +xref: OMIM:614527 {source="MONDO:equivalentTo", source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/e"} xref: Orphanet:261265 {source="MONDO:equivalentTo", source="DOID:0060404", source="OMIM:614527"} xref: SCTID:733519008 {source="MONDO:equivalentTo"} xref: UMLS:C3281138 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614527"} @@ -274714,8 +274580,8 @@ synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" EXACT CLINGEN_PREFERRED [] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" EXACT [OMIM:614557] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:300179", source="ORDO:300179/attributed", source="ORDO:300179/ntbt"} -xref: OMIM:614557 {source="ORDO:300179/e", source="Orphanet:300179", source="MONDO:equivalentTo"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:300179/attributed", source="Orphanet:300179/ntbt", source="Orphanet:300179"} +xref: OMIM:614557 {source="Orphanet:300179", source="MONDO:equivalentTo", source="Orphanet:300179/e"} xref: Orphanet:300179 {source="OMIM:614557", source="MONDO:equivalentTo"} xref: SCTID:720859009 {source="MONDO:equivalentTo"} xref: UMLS:C3281160 {source="OMIM:614557", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -274744,7 +274610,7 @@ xref: GARD:0013085 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:614558 {source="MONDO:equivalentTo"} xref: SCTID:765170001 {source="MONDO:equivalentTo"} xref: UMLS:C3281191 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614558"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:614558", source="MONDO:Redundant", source="OMIM:614558"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10596 ! SCN8A @@ -274763,8 +274629,8 @@ synonym: "infantile cerebellar retinal degeneration" RELATED [GARD:0013264] synonym: "infantile cerebellar-retinal degeneration" EXACT [MONDO:Lexical, OMIM:614559] xref: DOID:0050883 {source="MONDO:equivalentTo"} xref: GARD:0013264 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:313850", source="ORDO:313850/attributed", source="ORDO:313850/ntbt"} -xref: OMIM:614559 {source="Orphanet:313850", source="DOID:0050883", source="MONDO:equivalentTo", source="ORDO:313850/e"} +xref: ICD10CM:E88.8 {source="Orphanet:313850", source="Orphanet:313850/attributed", source="Orphanet:313850/ntbt"} +xref: OMIM:614559 {source="Orphanet:313850", source="DOID:0050883", source="MONDO:equivalentTo", source="Orphanet:313850/e"} xref: Orphanet:313850 {source="MONDO:equivalentTo", source="OMIM:614559"} xref: UMLS:C3281192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614559"} is_a: MONDO:0016790 {source="Orphanet:313850"} ! tricarboxylic acid cycle disorder @@ -274837,7 +274703,7 @@ synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposit synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT CLINGEN_PREFERRED [] synonym: "FCTCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614564] synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [OMIM:614564] -xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="ORDO:313846/e"} +xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="Orphanet:313846/e"} xref: Orphanet:313846 {source="OMIM:614564", source="MONDO:equivalentTo"} xref: UMLS:C3281203 {source="OMIM:614564", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="Orphanet:313846"} ! hereditary neoplastic syndrome @@ -274890,13 +274756,13 @@ synonym: "multiple Angiomas and Endochondromas" RELATED [GARD:0006958] synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569] xref: DOID:0060221 {source="MONDO:equivalentTo"} xref: GARD:0006958 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.4 {source="ORDO:163634/inclusion", source="ORDO:163634/ntbt", source="DOID:0060221", source="Orphanet:163634"} +xref: ICD10CM:Q78.4 {source="DOID:0060221", source="Orphanet:163634/inclusion", source="Orphanet:163634", source="Orphanet:163634/ntbt"} xref: NCIT:C3213 {source="MONDO:equivalentTo", source="exact-label-match"} xref: OMIM:166000 {source="GARD:0006958", source="MONDO:directSiblingOf"} -xref: OMIM:614569 {source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634", source="ORDO:163634/e"} +xref: OMIM:614569 {source="Orphanet:163634/e", source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634"} xref: Orphanet:163634 {source="DOID:0060221", source="MONDO:equivalentTo", source="OMIM:614569"} xref: SCTID:46041001 {source="MONDO:equivalentTo"} -xref: UMLS:C0024454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614569", source="NCIT:C3213", source="Orphanet:163634", source="ORDO:163634/e"} +xref: UMLS:C0024454 {source="Orphanet:163634/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614569", source="NCIT:C3213", source="Orphanet:163634"} is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:163634"} ! neoplasm is_a: MONDO:0015356 {source="Orphanet:163634"} ! hereditary neoplastic syndrome is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:163634", source="Orphanet:163634/inferred"} ! genetic vascular anomaly @@ -274934,8 +274800,8 @@ synonym: "congenital disorder of glycosylation type IIL" EXACT [Orphanet:464443] synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical, OMIM:614576] xref: DOID:0070264 {source="MONDO:equivalentTo"} xref: GARD:0010944 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:464443", source="ORDO:464443/attributed", source="ORDO:464443/ntbt"} -xref: OMIM:614576 {source="Orphanet:464443", source="ORDO:464443/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E77.8 {source="Orphanet:464443", source="Orphanet:464443/attributed", source="Orphanet:464443/ntbt"} +xref: OMIM:614576 {source="Orphanet:464443", source="MONDO:equivalentTo", source="Orphanet:464443/e"} xref: Orphanet:464443 {source="MONDO:equivalentTo"} xref: UMLS:C3553230 {source="OMIM:614576", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005501 {source="DC-OMIM:614576", source="OMIM:614576"} ! congenital disorder of glycosylation type II @@ -274957,8 +274823,8 @@ synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE synonym: "COXPD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614582, Orphanet:319509] synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111472 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.2 {source="Orphanet:319509", source="ORDO:319509/attributed", source="ORDO:319509/ntbt"} -xref: OMIM:614582 {source="Orphanet:319509", source="ORDO:319509/e", source="MONDO:equivalentTo"} +xref: ICD10CM:I42.2 {source="Orphanet:319509/attributed", source="Orphanet:319509/ntbt", source="Orphanet:319509"} +xref: OMIM:614582 {source="Orphanet:319509", source="MONDO:equivalentTo", source="Orphanet:319509/e"} xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"} xref: SCTID:763209008 {source="MONDO:equivalentTo"} xref: UMLS:C3281234 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614582"} @@ -274998,8 +274864,8 @@ synonym: "dystonia type 21" EXACT [DOID:0090046, MONDORULE:2] synonym: "DYT21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614588, Orphanet:306734] synonym: "primary dystonia, DYT21 type" RELATED [Orphanet:306734] xref: DOID:0090046 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="Orphanet:306734", source="DOID:0090046", source="ORDO:306734/attributed", source="ORDO:306734/ntbt"} -xref: OMIM:614588 {source="Orphanet:306734", source="ORDO:306734/e", source="MONDO:equivalentTo", source="DOID:0090046"} +xref: ICD10CM:G24.1 {source="Orphanet:306734", source="Orphanet:306734/attributed", source="Orphanet:306734/ntbt", source="DOID:0090046"} +xref: OMIM:614588 {source="Orphanet:306734", source="MONDO:equivalentTo", source="Orphanet:306734/e", source="DOID:0090046"} xref: Orphanet:306734 {source="OMIM:614588", source="MONDO:equivalentTo", source="DOID:0090046"} xref: UMLS:C3281236 {source="OMIM:614588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018303 {source="Orphanet:306734"} ! generalized isolated dystonia @@ -275027,7 +274893,7 @@ synonym: "bent bone dysplasia (BBD)-FGFR2 type" RELATED [GARD:0010965] synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical, OMIM:614592] synonym: "perinatal lethal bent bone dysplasia" EXACT [Orphanet:313855] xref: GARD:0010965 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: OMIM:614592 {source="Orphanet:313855", source="ORDO:313855/e", source="MONDO:equivalentTo"} +xref: OMIM:614592 {source="Orphanet:313855", source="MONDO:equivalentTo", source="Orphanet:313855/e"} xref: Orphanet:313855 {source="MONDO:equivalentTo", source="OMIM:614592"} xref: UMLS:C3281247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614592"} is_a: MONDO:0019698 {source="Orphanet:313855"} ! bent bone dysplasia @@ -275077,7 +274943,7 @@ xref: DOID:0111416 {source="MONDO:equivalentTo"} xref: OMIM:614602 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="MONDO:subClassOf", source="OMIM:614602"} xref: UMLS:C3281289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614602"} -is_a: MONDO:0009105 {source="MONDO:Redundant", source="OMIM:614602", source="ORDO:84064/btnt"} ! trichohepatoenteric syndrome +is_a: MONDO:0009105 {source="MONDO:Redundant", source="OMIM:614602", source="Orphanet:84064/btnt"} ! trichohepatoenteric syndrome intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10898 ! SKIV2L relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10898 {source="mim2gene_medgen"} ! SKIV2L @@ -275104,7 +274970,7 @@ xref: DOID:0070044 {source="MONDO:equivalentTo"} xref: OMIM:614607 {source="DOID:0070044", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:subClassOf", source="OMIM:614607"} xref: UMLS:C3553247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614607"} -is_a: MONDO:0015452 {source="DC-OMIM:614607", source="MONDO:Redundant", source="OMIM:614607", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:614607", source="MONDO:Redundant", source="OMIM:614607", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11110 ! ARID1A @@ -275134,7 +275000,7 @@ xref: DOID:0070045 {source="MONDO:equivalentTo"} xref: OMIM:614608 {source="DOID:0070045", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:subClassOf", source="OMIM:614608"} xref: UMLS:C3553248 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614608"} -is_a: MONDO:0015452 {source="DC-OMIM:614608", source="MONDO:Redundant", source="OMIM:614608", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:614608", source="MONDO:Redundant", source="OMIM:614608", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11103 ! SMARCB1 @@ -275164,7 +275030,7 @@ xref: DOID:0070046 {source="MONDO:equivalentTo"} xref: OMIM:614609 {source="DOID:0070046", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:subClassOf", source="OMIM:614609"} xref: UMLS:C3553249 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614609"} -is_a: MONDO:0015452 {source="DC-OMIM:614609", source="MONDO:Redundant", source="OMIM:614609", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:614609", source="MONDO:Redundant", source="OMIM:614609", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11100 ! SMARCA4 @@ -275187,7 +275053,7 @@ xref: OMIM:614613 {source="MONDO:equivalentTo"} xref: Orphanet:280651 {source="MONDO:subClassOf", source="OMIM:614613"} xref: Orphanet:950 {source="MONDO:subClassOf", source="OMIM:614613"} xref: UMLS:C3553250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614613"} -is_a: MONDO:0017240 {source="ORDO:280651/btnt"} ! acrodysostosis with multiple hormone resistance +is_a: MONDO:0017240 {source="Orphanet:280651/btnt"} ! acrodysostosis with multiple hormone resistance is_a: MONDO:0019797 {source="DC-OMIM:614613", source="MONDO:Redundant", source="OMIM:614613"} ! acrodysostosis intersection_of: MONDO:0019797 ! acrodysostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8783 ! PDE4D @@ -275250,8 +275116,8 @@ synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616] synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616] synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060780 {source="MONDO:equivalentTo"} -xref: ICD10CM:P78.3 {source="ORDO:314373/attributed", source="ORDO:314373/ntbt", source="DOID:0060780", source="Orphanet:314373"} -xref: OMIM:614616 {source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373", source="ORDO:314373/e"} +xref: ICD10CM:P78.3 {source="DOID:0060780", source="Orphanet:314373", source="Orphanet:314373/attributed", source="Orphanet:314373/ntbt"} +xref: OMIM:614616 {source="Orphanet:314373/e", source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373"} xref: Orphanet:314373 {source="DOID:0060780", source="MONDO:equivalentTo", source="OMIM:614616"} xref: UMLS:C3553270 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614616"} is_a: MONDO:0000824 {source="DC-OMIM:614616", source="DOID:0060780", source="MONDO:Redundant", source="OMIM:614616"} ! congenital diarrhea @@ -275272,8 +275138,7 @@ synonym: "autosomal recessive deafness 86" NARROW [DOID:0110532] synonym: "autosomal recessive nonsyndromic deafness 86" NARROW [OMIM:614617] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 86" NARROW [DOID:0110532, MONDORULE:2] -synonym: "deafness, autosomal recessive 86" NARROW [MONDO:Lexical, OMIM:614617] -synonym: "deafness, autosomal recessive 86" NARROW [OMIM:614617, OMIM:genemap2] +synonym: "deafness, autosomal recessive 86" NARROW [MONDO:Lexical, OMIM:614617, OMIM:genemap2] synonym: "deafness, autosomal recessive type 86" NARROW [MONDORULE:2, OMIM:614617] synonym: "DFNB86" NARROW ABBREVIATION [DOID:0110532, MONDO:Lexical, OMIM:614617] synonym: "TBC1D24 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -275303,7 +275168,7 @@ xref: ICD10CM:G25.8 {source="DOID:0060698"} xref: OMIM:614618 {source="MONDO:equivalentTo", source="DOID:0060698"} xref: Orphanet:3197 {source="MONDO:subClassOf", source="DOID:0060698", source="OMIM:614618"} xref: UMLS:C3553288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614618"} -is_a: MONDO:0021022 {source="DOID:0060698", source="MONDO:Redundant", source="OMIM:614618", source="ORDO:3197/btnt"} ! hereditary hyperekplexia +is_a: MONDO:0021022 {source="DOID:0060698", source="MONDO:Redundant", source="OMIM:614618", source="Orphanet:3197/btnt"} ! hereditary hyperekplexia intersection_of: MONDO:0021022 ! hereditary hyperekplexia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11051 ! SLC6A5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11051 {source="mim2gene_medgen"} ! SLC6A5 @@ -275323,7 +275188,7 @@ xref: ICD10CM:G25.8 {source="DOID:0060697"} xref: OMIM:614619 {source="DOID:0060697", source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="MONDO:subClassOf", source="DOID:0060697", source="OMIM:614619"} xref: UMLS:C3553291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614619"} -is_a: MONDO:0021022 {source="DOID:0060697", source="MONDO:Redundant", source="OMIM:614619", source="ORDO:3197/btnt"} ! hereditary hyperekplexia +is_a: MONDO:0021022 {source="DOID:0060697", source="MONDO:Redundant", source="OMIM:614619", source="Orphanet:3197/btnt"} ! hereditary hyperekplexia intersection_of: MONDO:0021022 ! hereditary hyperekplexia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4329 ! GLRB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4329 {source="mim2gene_medgen"} ! GLRB @@ -275421,7 +275286,7 @@ xref: DOID:0111234 {source="MONDO:equivalentTo"} xref: OMIM:614643 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:subClassOf", source="OMIM:614643", source="MONDO:relatedTo"} xref: UMLS:C3553330 {source="OMIM:614643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 ! CRPPA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37276 {source="mim2gene_medgen"} ! CRPPA @@ -275435,8 +275300,8 @@ synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical, OMIM:6146 synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1, OMIM:614650] synonym: "COQ10D6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614650] xref: DOID:0070243 {source="MONDO:equivalentTo"} -xref: ICD10CM:N04.8 {source="Orphanet:280406", source="ORDO:280406/attributed", source="ORDO:280406/ntbt"} -xref: OMIM:614650 {source="ORDO:280406/e", source="Orphanet:280406", source="MONDO:equivalentTo"} +xref: ICD10CM:N04.8 {source="Orphanet:280406/attributed", source="Orphanet:280406/ntbt", source="Orphanet:280406"} +xref: OMIM:614650 {source="Orphanet:280406", source="MONDO:equivalentTo", source="Orphanet:280406/e"} xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"} xref: UMLS:C3553349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614650"} is_a: MONDO:0015163 {source="Orphanet:280406", source="Orphanet:280406/inferred"} ! primary glomerular disease @@ -275456,8 +275321,8 @@ synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1, OMIM:614 synonym: "COQ10D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614651] synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [Orphanet:254898] xref: DOID:0070239 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:254898/attributed", source="ORDO:254898/ntbt", source="Orphanet:254898"} -xref: OMIM:614651 {source="MONDO:equivalentTo", source="ORDO:254898/e", source="Orphanet:254898"} +xref: ICD10CM:E88.8 {source="Orphanet:254898", source="Orphanet:254898/attributed", source="Orphanet:254898/ntbt"} +xref: OMIM:614651 {source="MONDO:equivalentTo", source="Orphanet:254898", source="Orphanet:254898/e"} xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"} xref: UMLS:C3553354 {source="OMIM:614651", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018151 {source="DC-OMIM:614651", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency @@ -275477,7 +275342,7 @@ xref: DOID:0070240 {source="MONDO:equivalentTo"} xref: OMIM:614652 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="MONDO:subClassOf", source="OMIM:614652"} xref: UMLS:C3553358 {source="OMIM:614652", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016816 {source="ORDO:255249/btnt"} ! Leigh syndrome with nephrotic syndrome +is_a: MONDO:0016816 {source="Orphanet:255249/btnt"} ! Leigh syndrome with nephrotic syndrome is_a: MONDO:0018151 {source="MONDO:Redundant", source="OMIM:614652", source="indirect"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23041 ! PDSS2 @@ -275498,8 +275363,8 @@ synonym: "HSAN6" EXACT ABBREVIATION [DOID:0070151, MONDO:Lexical, OMIM:614653, O synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [OMIM:614653] synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical, OMIM:614653] xref: DOID:0070151 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.8 {source="ORDO:314381/attributed", source="ORDO:314381/ntbt", source="Orphanet:314381", source="DOID:0070151"} -xref: OMIM:614653 {source="MONDO:equivalentTo", source="ORDO:314381/e", source="Orphanet:314381", source="DOID:0070151"} +xref: ICD10CM:G60.8 {source="Orphanet:314381", source="Orphanet:314381/attributed", source="Orphanet:314381/ntbt", source="DOID:0070151"} +xref: OMIM:614653 {source="MONDO:equivalentTo", source="Orphanet:314381", source="DOID:0070151", source="Orphanet:314381/e"} xref: Orphanet:314381 {source="OMIM:614653", source="MONDO:equivalentTo", source="DOID:0070151"} xref: UMLS:C3539003 {source="OMIM:614653", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="DOID:0070151", source="OMIM:614653", source="Orphanet:314381/inferred"} ! hereditary sensory and autonomic neuropathy @@ -275518,8 +275383,8 @@ synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical, OMIM:6146 synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1, OMIM:614654] synonym: "COQ10D5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614654] xref: DOID:0070242 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:319678/attributed", source="ORDO:319678/ntbt", source="Orphanet:319678"} -xref: OMIM:614654 {source="MONDO:equivalentTo", source="ORDO:319678/e", source="Orphanet:319678"} +xref: ICD10CM:E88.8 {source="Orphanet:319678/attributed", source="Orphanet:319678/ntbt", source="Orphanet:319678"} +xref: OMIM:614654 {source="Orphanet:319678/e", source="MONDO:equivalentTo", source="Orphanet:319678"} xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"} xref: UMLS:C3553374 {source="OMIM:614654", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018151 {source="DC-OMIM:614654", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency @@ -275551,7 +275416,7 @@ xref: NCIT:C131084 {source="DOID:0090140", source="MONDO:equivalentTo"} xref: OMIM:614662 {source="DOID:0090140", source="MONDO:equivalentTo"} xref: Orphanet:168588 {source="MONDO:subClassOf", source="OMIM:614662"} xref: UMLS:C3553382 {source="OMIM:614662", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="MONDO:Redundant", source="OMIM:614662", source="ORDO:168588/btnt"} ! cortisone reductase deficiency +is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="MONDO:Redundant", source="OMIM:614662", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency intersection_of: MONDO:0000193 ! cortisone reductase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5208 ! HSD11B1 relationship: disease_has_basis_in_disruption_of GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity @@ -275567,9 +275432,9 @@ synonym: "GUCY2C meconium ileus" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "meconium ileus" BROAD [OMIM:614665, OMIM:genemap2] synonym: "meconium ileus caused by mutation in GUCY2C" EXACT [] synonym: "meconium ileus due to guanylate cyclase 2C deficiency" EXACT [Orphanet:314376] -xref: ICD10CM:P76.0 {source="ORDO:314376/attributed", source="ORDO:314376/ntbt", source="Orphanet:314376"} +xref: ICD10CM:P76.0 {source="Orphanet:314376/attributed", source="Orphanet:314376/ntbt", source="Orphanet:314376"} xref: ICD9:777.1 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:614665 {source="MONDO:equivalentTo", source="ORDO:314376/e", source="Orphanet:314376"} +xref: OMIM:614665 {source="Orphanet:314376/e", source="MONDO:equivalentTo", source="Orphanet:314376"} xref: Orphanet:314376 {source="OMIM:614665", source="MONDO:equivalentTo"} xref: SCTID:733447005 {source="MONDO:equivalentTo"} xref: UMLS:C0270246 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -275639,7 +275504,7 @@ synonym: "proximal trisomy 16p11.2" EXACT [DOID:0060430, Orphanet:370079] synonym: "susceptibility to autism, 14B" RELATED [GARD:0012388] xref: DOID:0060430 {source="MONDO:equivalentTo"} xref: GARD:0012388 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: OMIM:614671 {source="DOID:0060430", source="MONDO:equivalentTo", source="ORDO:370079/e", source="Orphanet:370079"} +xref: OMIM:614671 {source="DOID:0060430", source="MONDO:equivalentTo", source="Orphanet:370079", source="Orphanet:370079/e"} xref: Orphanet:370079 {source="DOID:0060430", source="MONDO:equivalentTo", source="OMIM:614671"} xref: SCTID:765142003 {source="MONDO:equivalentTo"} xref: UMLS:C3150155 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -275711,8 +275576,8 @@ synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1, OMIM:614675] -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="ORDO:314399/attributed", source="ORDO:314399/ntbt", source="Orphanet:314399"} -xref: OMIM:614675 {source="MONDO:equivalentTo", source="Orphanet:314399", source="ORDO:314399/e"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:314399/attributed", source="Orphanet:314399/ntbt", source="Orphanet:314399"} +xref: OMIM:614675 {source="Orphanet:314399/e", source="MONDO:equivalentTo", source="Orphanet:314399"} xref: Orphanet:314399 {source="OMIM:614675", source="MONDO:equivalentTo"} xref: UMLS:C3808553 {source="OMIM:614675", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN203751 {source="MONDO:equivalentTo"} @@ -275751,7 +275616,7 @@ xref: DOID:0060266 {source="MONDO:equivalentTo"} xref: OMIM:614678 {source="DOID:0060266", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="MONDO:subClassOf", source="DOID:0060266", source="OMIM:614678"} xref: UMLS:C3553449 {source="OMIM:614678", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016396 {source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1 +is_a: MONDO:0016396 {source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 is_a: MONDO:0020135 {source="DOID:0060266", source="MONDO:Redundant", source="OMIM:614678", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17944 ! EXOSC3 @@ -275820,8 +275685,8 @@ synonym: "PONTINE tegmental CAP dysplasia" RELATED [OMIM:614688] synonym: "pontine tegmental cap dysplasia" EXACT [MONDO:Lexical, OMIM:614688] synonym: "PTCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614688, Orphanet:269229] xref: GARD:0010919 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="ORDO:269229/ntbt", source="Orphanet:269229"} -xref: OMIM:614688 {source="ORDO:269229/e", source="MONDO:equivalentTo", source="Orphanet:269229"} +xref: ICD10CM:Q04.8 {source="Orphanet:269229", source="Orphanet:269229/ntbt"} +xref: OMIM:614688 {source="MONDO:equivalentTo", source="Orphanet:269229", source="Orphanet:269229/e"} xref: Orphanet:269229 {source="OMIM:614688", source="MONDO:equivalentTo"} xref: UMLS:C3541340 {source="NCBI:mim2gene_medline", source="OMIM:614688", source="MONDO:equivalentTo"} is_a: MONDO:0020133 {source="Orphanet:269229"} ! posterior fossa malformation @@ -275847,7 +275712,7 @@ xref: OMIM:614691 {source="MONDO:equivalentTo", source="DOID:0110245"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:614691"} xref: UMLS:C3553494 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614691"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110245", source="MONDO:Redundant", source="OMIM:614691", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21869 ! AGK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21869 {source="mim2gene_medgen"} ! AGK @@ -275869,9 +275734,9 @@ synonym: "membranous nephropathy - Idiopathic" EXACT [NCIT:C123060] synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical, OMIM:614692] synonym: "MGN" RELATED ABBREVIATION [GARD:0009180] xref: GARD:0009180 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:N04.2 {source="ORDO:97560/ntbt", source="Orphanet:97560"} +xref: ICD10CM:N04.2 {source="Orphanet:97560/ntbt", source="Orphanet:97560"} xref: NCIT:C123060 {source="MONDO:equivalentTo"} -xref: OMIM:614692 {source="MONDO:equivalentTo", source="ORDO:97560/e", source="Orphanet:97560"} +xref: OMIM:614692 {source="Orphanet:97560/e", source="MONDO:equivalentTo", source="Orphanet:97560"} xref: Orphanet:97560 {source="MONDO:equivalentTo", source="OMIM:614692"} xref: SCTID:722119002 {source="MONDO:equivalentTo"} xref: UMLS:C0086445 {source="MONDO:equivalentTo", source="Orphanet:97560"} @@ -275910,8 +275775,8 @@ synonym: "Cid due to LRBA deficiency" EXACT [Orphanet:445018] synonym: "combined immunodeficiency due to LRBA deficiency" EXACT CLINGEN_PREFERRED [] synonym: "CVID8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614700] synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical, OMIM:614700] -xref: ICD10CM:D81.8 {source="Orphanet:445018", source="ORDO:445018/attributed", source="ORDO:445018/ntbt"} -xref: OMIM:614700 {source="ORDO:445018/e", source="Orphanet:445018", source="MONDO:equivalentTo"} +xref: ICD10CM:D81.8 {source="Orphanet:445018/attributed", source="Orphanet:445018/ntbt", source="Orphanet:445018"} +xref: OMIM:614700 {source="Orphanet:445018", source="MONDO:equivalentTo", source="Orphanet:445018/e"} xref: Orphanet:1572 {source="MONDO:subClassOf", source="OMIM:614700"} xref: Orphanet:445018 {source="MONDO:equivalentTo"} xref: UMLS:C3553512 {source="OMIM:614700", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -275960,8 +275825,8 @@ synonym: "COXPD10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614702, Orphanet:3146 synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT CLINGEN_PREFERRED [] synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111480 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.2 {source="ORDO:314637/attributed", source="ORDO:314637/ntbt", source="Orphanet:314637"} -xref: OMIM:614702 {source="ORDO:314637/e", source="MONDO:equivalentTo", source="Orphanet:314637"} +xref: ICD10CM:I42.2 {source="Orphanet:314637", source="Orphanet:314637/attributed", source="Orphanet:314637/ntbt"} +xref: OMIM:614702 {source="MONDO:equivalentTo", source="Orphanet:314637", source="Orphanet:314637/e"} xref: Orphanet:314637 {source="MONDO:equivalentTo", source="OMIM:614702"} xref: UMLS:C3553529 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614702"} is_a: MONDO:0000732 {source="DC-OMIM:614702", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency @@ -275986,8 +275851,8 @@ synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in Grn" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2] xref: DOID:0110732 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="DOID:0110732", source="MONDO:subClassOf", source="ORDO:314629/attributed", source="ORDO:314629/ntbt", source="Orphanet:314629"} -xref: OMIM:614706 {source="DOID:0110732", source="MONDO:equivalentTo", source="Orphanet:314629", source="ORDO:314629/e"} +xref: ICD10CM:E75.4 {source="DOID:0110732", source="MONDO:subClassOf", source="Orphanet:314629", source="Orphanet:314629/attributed", source="Orphanet:314629/ntbt"} +xref: OMIM:614706 {source="DOID:0110732", source="MONDO:equivalentTo", source="Orphanet:314629", source="Orphanet:314629/e"} xref: Orphanet:314629 {source="DOID:0110732", source="MONDO:equivalentTo", source="OMIM:614706"} xref: Orphanet:79262 {source="MONDO:subClassOf", source="OMIM:614706"} xref: UMLS:C3539123 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614706"} @@ -276014,7 +275879,7 @@ xref: HGNC:30224 {source="GARD:0012861"} xref: OMIM:614707 {source="MONDO:equivalentTo"} xref: Orphanet:97229 {source="MONDO:subClassOf", source="OMIM:614707"} xref: UMLS:C3553538 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614707"} -is_a: MONDO:0008891 {source="ORDO:97229/btnt", source="indirect"} ! riboflavin transporter deficiency +is_a: MONDO:0008891 {source="Orphanet:97229/btnt", source="indirect"} ! riboflavin transporter deficiency intersection_of: MONDO:0008891 ! riboflavin transporter deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30224 ! SLC52A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30224 {source="mim2gene_medgen"} ! SLC52A2 @@ -276032,7 +275897,7 @@ xref: Orphanet:79152 {source="MONDO:subClassOf", source="OMIM:614714"} xref: UMLS:C0265970 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3553549 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614714"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:614714", source="indirect"} ! porokeratosis -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7529 {source="mim2gene_medgen"} ! MVD property_value: confidence "1.1527777777777777" xsd:double @@ -276054,10 +275919,10 @@ synonym: "urolithiasis, Dha" RELATED [OMIM:614723] xref: DOID:0060350 {source="MONDO:equivalentTo"} xref: GARD:0000546 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0010666 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.8 {source="Orphanet:976", source="ORDO:976/attributed", source="ORDO:976/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:976/attributed", source="Orphanet:976/ntbt", source="Orphanet:976"} xref: MESH:C538228 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: NCIT:C121564 {source="MONDO:equivalentTo", source="DOID:0060350"} -xref: OMIM:614723 {source="ORDO:976/e", source="Orphanet:976", source="MONDO:equivalentTo", source="DOID:0060350"} +xref: OMIM:614723 {source="Orphanet:976", source="MONDO:equivalentTo", source="Orphanet:976/e", source="DOID:0060350"} xref: Orphanet:976 {source="MONDO:equivalentTo", source="OMIM:614723"} xref: SCTID:11852004 {source="DOID:0060350"} xref: SCTID:124274002 {source="MONDO:equivalentTo", source="DOID:0060350"} @@ -276085,8 +275950,8 @@ synonym: "congenital disorder of glycosylation, type IIk" RELATED [MONDO:Lexical synonym: "TMEM165-CDG (CDG-IIk)" RELATED [GARD:0012413] xref: DOID:0070263 {source="MONDO:equivalentTo"} xref: GARD:0012413 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:314667", source="ORDO:314667/attributed", source="ORDO:314667/ntbt"} -xref: OMIM:614727 {source="Orphanet:314667", source="ORDO:314667/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E77.8 {source="Orphanet:314667", source="Orphanet:314667/attributed", source="Orphanet:314667/ntbt"} +xref: OMIM:614727 {source="Orphanet:314667", source="MONDO:equivalentTo", source="Orphanet:314667/e"} xref: Orphanet:314667 {source="MONDO:equivalentTo", source="OMIM:614727"} xref: SCTID:732252005 {source="MONDO:equivalentTo"} xref: UMLS:C3553571 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614727"} @@ -276154,10 +276019,10 @@ synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypopl synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" EXACT [Orphanet:85173] xref: DOID:0050885 {source="MONDO:equivalentTo"} xref: GARD:0012312 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:85173/attributed", source="ORDO:85173/ntbt", source="Orphanet:85173"} +xref: ICD10CM:Q87.1 {source="Orphanet:85173/attributed", source="Orphanet:85173/ntbt", source="Orphanet:85173"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C130988 {source="MONDO:equivalentTo"} -xref: OMIM:614732 {source="DOID:0050885", source="MONDO:equivalentTo", source="ORDO:85173/e", source="Orphanet:85173"} +xref: OMIM:614732 {source="Orphanet:85173/e", source="DOID:0050885", source="MONDO:equivalentTo", source="Orphanet:85173"} xref: Orphanet:85173 {source="OMIM:614732", source="MONDO:equivalentTo"} xref: SCTID:702384004 {source="MONDO:equivalentTo"} xref: UMLS:C1846009 {source="NCIT:C130988", source="NCBI:mim2gene_medline", source="OMIM:614732", source="MONDO:equivalentTo", source="Orphanet:85173"} @@ -276186,7 +276051,7 @@ xref: NCIT:C131452 {source="MONDO:equivalentTo"} xref: OMIM:614736 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="MONDO:subClassOf", source="OMIM:614736"} xref: UMLS:C3553587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614736"} -is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:614736", source="ORDO:361/btnt"} ! familial glucocorticoid deficiency +is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:614736", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7863 ! NNT relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7863 {source="mim2gene_medgen"} ! NNT @@ -276216,8 +276081,8 @@ synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO synonym: "SERAC1 defect" RELATED [GARD:0012963] xref: DOID:0110001 {source="MONDO:equivalentTo"} xref: GARD:0012963 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:352328/attributed", source="ORDO:352328/ntbt", source="Orphanet:352328", source="DOID:0110001"} -xref: OMIM:614739 {source="MONDO:equivalentTo", source="Orphanet:352328", source="ORDO:352328/e", source="DOID:0110001"} +xref: ICD10CM:E71.1 {source="Orphanet:352328", source="Orphanet:352328/attributed", source="Orphanet:352328/ntbt", source="DOID:0110001"} +xref: OMIM:614739 {source="Orphanet:352328/e", source="MONDO:equivalentTo", source="Orphanet:352328", source="DOID:0110001"} xref: Orphanet:352328 {source="MONDO:equivalentTo", source="OMIM:614739", source="DOID:0110001"} xref: SCTID:711409002 {source="MONDO:equivalentTo"} xref: UMLS:C3553597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614739"} @@ -276260,8 +276125,8 @@ subset: ordo_disease {source="Orphanet:447784"} synonym: "mitochondrial pyruvate carrier deficiency" EXACT [MONDO:Lexical, OMIM:614741] synonym: "MPYCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614741] xref: DOID:0080363 {source="MONDO:equivalentTo"} -xref: ICD10CM:E74.4 {source="ORDO:447784/attributed", source="ORDO:447784/ntbt", source="Orphanet:447784"} -xref: OMIM:614741 {source="MONDO:equivalentTo", source="ORDO:447784/e", source="Orphanet:447784"} +xref: ICD10CM:E74.4 {source="Orphanet:447784/attributed", source="Orphanet:447784/ntbt", source="Orphanet:447784"} +xref: OMIM:614741 {source="Orphanet:447784/e", source="MONDO:equivalentTo", source="Orphanet:447784"} xref: Orphanet:447784 {source="MONDO:equivalentTo"} xref: UMLS:C3553607 {source="OMIM:614741", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1573"} ! inborn mitochondrial metabolism disorder @@ -276323,7 +276188,7 @@ synonym: "HOXB1 congenital hereditary facial paralysis-variable hearing loss syn xref: OMIM:614744 {source="MONDO:equivalentTo"} xref: Orphanet:306530 {source="MONDO:subClassOf", source="OMIM:614744"} xref: UMLS:C3553625 {source="OMIM:614744", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017627 {source="MONDO:Redundant", source="ORDO:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome +is_a: MONDO:0017627 {source="MONDO:Redundant", source="Orphanet:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome intersection_of: MONDO:0017627 ! congenital hereditary facial paralysis-variable hearing loss syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5111 ! HOXB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5111 {source="mim2gene_medgen"} ! HOXB1 @@ -276346,7 +276211,7 @@ synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullo synonym: "JEB with respiratory and renal involvement" EXACT [Orphanet:306504] synonym: "JEB-RR" EXACT [Orphanet:306504] synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [Orphanet:306504] -xref: OMIM:614748 {source="ORDO:306504/e", source="Orphanet:306504", source="MONDO:equivalentTo"} +xref: OMIM:614748 {source="Orphanet:306504", source="MONDO:equivalentTo", source="Orphanet:306504/e"} xref: Orphanet:306504 {source="MONDO:equivalentTo", source="OMIM:614748"} xref: UMLS:C3553636 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:614748"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:306504", source="Orphanet:306504/inferred"} ! respiratory system disorder @@ -276374,7 +276239,7 @@ synonym: "PIGO hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO: xref: OMIM:614749 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:614749"} xref: UMLS:C3553637 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614749"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614749", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614749", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23215 ! PIGO relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23215 {source="mim2gene_medgen"} ! PIGO @@ -276401,7 +276266,7 @@ xref: Orphanet:353327 {source="MONDO:subClassOf", source="OMIM:614750"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:614750"} xref: UMLS:C3553645 {source="OMIM:614750", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000182 {source="DC-OMIM:614750", source="OMIM:614750"} ! congenital myasthenic syndrome with tubular aggregates -is_a: MONDO:0018144 {source="MONDO:Redundant", source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect +is_a: MONDO:0018144 {source="MONDO:Redundant", source="Orphanet:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect intersection_of: MONDO:0018144 ! congenital myasthenic syndromes with glycosylation defect intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2995 ! DPAGT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2995 {source="mim2gene_medgen"} ! DPAGT1 @@ -276430,7 +276295,7 @@ is_a: MONDO:0100350 {source="DC-OMIM:614751", source="MONDO:Redundant"} ! neuron intersection_of: MONDO:0100350 ! neuronopathy, distal hereditary motor, type 5 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25786 ! REEP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25786 {source="mim2gene_medgen"} ! REEP1 -relationship: excluded_subClassOf MONDO:0015353 {source="ORDO:139536/btnt"} ! neuronopathy, distal hereditary motor, type 5A +relationship: excluded_subClassOf MONDO:0015353 {source="Orphanet:139536/btnt"} ! neuronopathy, distal hereditary motor, type 5A property_value: confidence "0.519607843137255" xsd:double [Term] @@ -276442,8 +276307,8 @@ synonym: "Malan syndrome" RELATED [OMIM:614753] synonym: "Sotos syndrome 2" EXACT [MONDO:Lexical, OMIM:614753, Orphanet:420179] synonym: "Sotos syndrome type 2" EXACT [MONDORULE:1, OMIM:614753] synonym: "SOTOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614753] -xref: ICD10CM:Q87.3 {source="Orphanet:420179", source="ORDO:420179/attributed", source="ORDO:420179/ntbt"} -xref: OMIM:614753 {source="Orphanet:420179", source="ORDO:420179/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.3 {source="Orphanet:420179", source="Orphanet:420179/attributed", source="Orphanet:420179/ntbt"} +xref: OMIM:614753 {source="Orphanet:420179", source="MONDO:equivalentTo", source="Orphanet:420179/e"} xref: Orphanet:420179 {source="OMIM:614753", source="MONDO:equivalentTo"} xref: SCTID:763795006 {source="MONDO:equivalentTo"} xref: UMLS:C3553660 {source="OMIM:614753", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -276468,8 +276333,8 @@ synonym: "nonprogressive cerebellar ataxia with intellectual disability" RELATED synonym: "nonprogressive cerebellar ataxia with mental retardation" RELATED DEPRECATED [DOID:0050998] synonym: "nonprogressive cerebellar atxia with intellectual disability" EXACT CLINGEN_PREFERRED [] xref: DOID:0050998 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.0 {source="Orphanet:314647", source="ORDO:314647/attributed", source="ORDO:314647/ntbt"} -xref: OMIM:614756 {source="Orphanet:314647", source="ORDO:314647/e", source="MONDO:equivalentTo", source="DOID:0050998"} +xref: ICD10CM:G11.0 {source="Orphanet:314647/attributed", source="Orphanet:314647/ntbt", source="Orphanet:314647"} +xref: OMIM:614756 {source="Orphanet:314647", source="MONDO:equivalentTo", source="DOID:0050998", source="Orphanet:314647/e"} xref: Orphanet:314647 {source="MONDO:equivalentTo", source="OMIM:614756"} xref: SCTID:723441001 {source="MONDO:equivalentTo"} xref: UMLS:C3553661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614756"} @@ -276525,8 +276390,8 @@ synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [Or synonym: "soph" RELATED [MONDO:Lexical, OMIM:614800] synonym: "soph syndrome" EXACT [Orphanet:391677] xref: GARD:0010945 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:391677", source="ORDO:391677/attributed", source="ORDO:391677/ntbt"} -xref: OMIM:614800 {source="MONDO:equivalentTo", source="Orphanet:391677", source="ORDO:391677/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:391677/attributed", source="Orphanet:391677/ntbt", source="Orphanet:391677"} +xref: OMIM:614800 {source="Orphanet:391677/e", source="MONDO:equivalentTo", source="Orphanet:391677"} xref: Orphanet:391677 {source="MONDO:equivalentTo", source="OMIM:614800"} xref: UMLS:C3541319 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614800"} is_a: MONDO:0018609 {source="Orphanet:391677"} ! syndromic hereditary optic neuropathy @@ -276545,8 +276410,8 @@ synonym: "centronuclear myopathy type 4" EXACT [Orphanet:319160] synonym: "CNM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614807, Orphanet:319160] synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical, OMIM:614807] synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1, OMIM:614807] -xref: ICD10CM:G71.2 {source="Orphanet:319160", source="ORDO:319160/attributed", source="ORDO:319160/ntbt"} -xref: OMIM:614807 {source="ORDO:319160/e", source="Orphanet:319160", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.2 {source="Orphanet:319160/attributed", source="Orphanet:319160/ntbt", source="Orphanet:319160"} +xref: OMIM:614807 {source="Orphanet:319160", source="MONDO:equivalentTo", source="Orphanet:319160/e"} xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"} xref: SCTID:764945007 {source="MONDO:equivalentTo"} xref: UMLS:C3553709 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614807"} @@ -276583,9 +276448,9 @@ subset: ordo_histopathological_subtype {source="Orphanet:329931"} synonym: "CFHR5 deficiency" RELATED [OMIM:614809] synonym: "complement-mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123043] synonym: "nephropathy due to CFHR5 deficiency" EXACT [OMIM:614809, OMIM:genemap2] -xref: ICD10CM:N00.5 {source="ORDO:329931/attributed", source="ORDO:329931/ntbt", source="Orphanet:329931"} +xref: ICD10CM:N00.5 {source="Orphanet:329931/attributed", source="Orphanet:329931/ntbt", source="Orphanet:329931"} xref: NCIT:C123043 {source="MONDO:equivalentTo"} -xref: OMIM:614809 {source="MONDO:equivalentTo", source="Orphanet:329931", source="ORDO:329931/e"} +xref: OMIM:614809 {source="Orphanet:329931/e", source="MONDO:equivalentTo", source="Orphanet:329931"} xref: Orphanet:329918 {source="MONDO:subClassOf", source="OMIM:614809"} xref: Orphanet:329931 {source="MONDO:equivalentTo", source="OMIM:614809"} xref: Orphanet:54370 {source="MONDO:subClassOf", source="OMIM:614809"} @@ -276627,8 +276492,8 @@ subset: ordo_disease {source="Orphanet:314394"} synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394] -xref: ICD10CM:Q87.1 {source="ORDO:314394/attributed", source="ORDO:314394/ntbt", source="Orphanet:314394"} -xref: OMIM:614813 {source="MONDO:equivalentTo", source="ORDO:314394/e", source="Orphanet:314394"} +xref: ICD10CM:Q87.1 {source="Orphanet:314394/attributed", source="Orphanet:314394/ntbt", source="Orphanet:314394"} +xref: OMIM:614813 {source="Orphanet:314394/e", source="MONDO:equivalentTo", source="Orphanet:314394"} xref: Orphanet:314394 {source="MONDO:equivalentTo", source="OMIM:614813"} xref: UMLS:C3542022 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614813"} is_a: MONDO:0019699 {source="Orphanet:314394"} ! slender bone dysplasia @@ -276647,7 +276512,7 @@ synonym: "RBPJ Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:pattern xref: OMIM:614814 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:subClassOf", source="OMIM:614814"} xref: UMLS:C3553748 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614814"} -is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614814", source="ORDO:974/btnt"} ! Adams-Oliver syndrome +is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614814", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome intersection_of: MONDO:0007034 ! Adams-Oliver syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5724 ! RBPJ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5724 {source="mim2gene_medgen"} ! RBPJ @@ -276709,8 +276574,8 @@ synonym: "KMIN" EXACT ABBREVIATION [DOID:0060911, MONDO:Lexical, OMIM:614817] synonym: "systemic karyomegaly" EXACT [Orphanet:401996] xref: DOID:0060911 {source="MONDO:equivalentTo"} xref: GARD:0011003 {source="MONDO:equivalentTo"} -xref: ICD10CM:N11.8 {source="Orphanet:401996", source="ORDO:401996/attributed", source="ORDO:401996/ntbt", source="DOID:0060911"} -xref: OMIM:614817 {source="Orphanet:401996", source="ORDO:401996/e", source="MONDO:equivalentTo", source="DOID:0060911"} +xref: ICD10CM:N11.8 {source="Orphanet:401996", source="Orphanet:401996/attributed", source="Orphanet:401996/ntbt", source="DOID:0060911"} +xref: OMIM:614817 {source="Orphanet:401996", source="MONDO:equivalentTo", source="Orphanet:401996/e", source="DOID:0060911"} xref: Orphanet:401996 {source="MONDO:equivalentTo", source="DOID:0060911", source="OMIM:614817"} xref: UMLS:C3553774 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614817"} is_a: MONDO:0001085 {source="DOID:0060911", source="MONDO:Redundant"} ! interstitial nephritis @@ -276774,7 +276639,7 @@ xref: OMIM:614822 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="MONDO:subClassOf", source="OMIM:614822"} xref: UMLS:C3553793 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614822"} is_a: MONDO:0004983 {source="DC-OMIM:614822", source="MONDO:Redundant", source="OMIM:614822"} ! azoospermia -is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder +is_a: MONDO:0017173 {source="Orphanet:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 ! SEPTIN12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 {source="mim2gene_medgen"} ! SEPTIN12 @@ -276796,7 +276661,7 @@ xref: OMIM:614823 {source="DOID:0080334", source="MONDO:equivalentTo"} xref: Orphanet:402075 {source="MONDO:subClassOf", source="OMIM:614823"} xref: UMLS:C3542024 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614823"} is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:614823", source="indirect"} ! aortic valve disorder -is_a: MONDO:0007194 {source="ORDO:402075/btnt"} ! familial bicuspid aortic valve +is_a: MONDO:0007194 {source="Orphanet:402075/btnt"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6772 ! SMAD6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6772 {source="mim2gene_medgen"} ! SMAD6 @@ -276829,7 +276694,7 @@ xref: DOID:0111231 {source="MONDO:equivalentTo"} xref: OMIM:614830 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:subClassOf", source="OMIM:614830", source="MONDO:relatedTo"} xref: UMLS:C3553813 {source="OMIM:614830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614830", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614830", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0700069 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT2 intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25902 ! POMGNT2 @@ -276854,8 +276719,8 @@ synonym: "SCAR13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614831, Orphanet:32426 synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831] synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:614831] xref: DOID:0080062 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:324262/attributed", source="ORDO:324262/ntbt", source="Orphanet:324262"} -xref: OMIM:614831 {source="MONDO:equivalentTo", source="Orphanet:324262", source="ORDO:324262/e", source="DOID:0080062"} +xref: ICD10CM:G11.1 {source="Orphanet:324262", source="Orphanet:324262/attributed", source="Orphanet:324262/ntbt"} +xref: OMIM:614831 {source="Orphanet:324262/e", source="MONDO:equivalentTo", source="Orphanet:324262", source="DOID:0080062"} xref: Orphanet:324262 {source="OMIM:614831", source="MONDO:equivalentTo"} xref: Orphanet:363429 {source="MONDO:subClassOf", source="OMIM:614831"} xref: UMLS:C3553816 {source="NCBI:mim2gene_medline", source="OMIM:614831", source="MONDO:equivalentTo"} @@ -276882,7 +276747,7 @@ xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"} xref: Orphanet:100033 {source="MONDO:subClassOf", source="OMIM:614832"} xref: UMLS:C3553830 {source="OMIM:614832", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110062", source="MONDO:Redundant", source="OMIM:614832", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26300 ! ODAPH @@ -276904,7 +276769,7 @@ synonym: "MSSP" RELATED ABBREVIATION [OMIM:614833] synonym: "PMGYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614833] synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical, OMIM:614833] xref: GARD:0010786 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:208447/attributed", source="ORDO:208447/ntbt", source="Orphanet:208447"} +xref: ICD10CM:Q04.3 {source="Orphanet:208447/attributed", source="Orphanet:208447/ntbt", source="Orphanet:208447"} xref: OMIM:614833 {source="MONDO:subClassOf"} xref: Orphanet:208447 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:614833"} @@ -276953,7 +276818,7 @@ xref: OMIM:614837 {source="DOID:0090074", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:614837"} xref: UMLS:C3553841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614837"} is_a: MONDO:0018555 {source="DOID:0090074", source="MONDO:Redundant", source="OMIM:614837", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4510 ! KISS1R relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4510 {source="mim2gene_medgen"} ! KISS1R @@ -276972,7 +276837,7 @@ xref: ICD10CM:E23.0 {source="DOID:0090085", source="MONDO:relatedTo"} xref: OMIM:614838 {source="DOID:0090085", source="MONDO:equivalentTo"} xref: UMLS:C3553842 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614838"} is_a: MONDO:0018555 {source="DOID:0090085", source="MONDO:Redundant", source="OMIM:614838", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29843 ! NSMF relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29843 {source="mim2gene_medgen"} ! NSMF @@ -277009,7 +276874,7 @@ xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090071"} xref: OMIM:614840 {source="MONDO:equivalentTo", source="DOID:0090071"} xref: UMLS:C3553844 {source="OMIM:614840", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="DOID:0090071", source="MONDO:Redundant", source="OMIM:614840", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11528 ! TACR3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11528 {source="mim2gene_medgen"} ! TACR3 @@ -277095,7 +276960,7 @@ xref: DOID:0111123 {source="MONDO:equivalentTo"} xref: OMIM:614845 {source="MONDO:equivalentTo", source="DOID:0111123"} xref: Orphanet:3156 {source="MONDO:subClassOf", source="OMIM:614845"} xref: UMLS:C3541853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614845"} -is_a: MONDO:0017842 {source="ORDO:3156/btnt"} ! Senior-Loken syndrome +is_a: MONDO:0017842 {source="Orphanet:3156/btnt"} ! Senior-Loken syndrome is_a: MONDO:0019005 {source="DC-OMIM:614845", source="DOID:0111123", source="MONDO:Redundant", source="OMIM:614845"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29182 ! CEP164 @@ -277112,8 +276977,8 @@ synonym: "levy-Shanske syndrome" RELATED [OMIM:614846] synonym: "tetrasomy 15(q25-qter)" EXACT [Orphanet:314588] synonym: "tetrasomy 15q26" EXACT [OMIM:614846, Orphanet:314588] synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7, OMIM:614846] -xref: ICD10CM:Q99.8 {source="Orphanet:314588", source="ORDO:314588/attributed", source="ORDO:314588/ntbt"} -xref: OMIM:614846 {source="Orphanet:314588", source="ORDO:314588/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q99.8 {source="Orphanet:314588", source="Orphanet:314588/attributed", source="Orphanet:314588/ntbt"} +xref: OMIM:614846 {source="Orphanet:314588", source="MONDO:equivalentTo", source="Orphanet:314588/e"} xref: Orphanet:314585 {source="MONDO:subClassOf", source="OMIM:614846"} xref: Orphanet:314588 {source="MONDO:equivalentTo", source="OMIM:614846"} xref: UMLS:C3553858 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614846"} @@ -277156,7 +277021,7 @@ xref: OMIM:614849 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="MONDO:subClassOf", source="OMIM:614849"} xref: UMLS:C3553868 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614849"} is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:614849", source="indirect"} ! encephalopathy, acute, infection-induced -is_a: MONDO:0012521 {source="MONDO:Redundant", source="ORDO:1930/btnt"} ! herpes simplex encephalitis +is_a: MONDO:0012521 {source="MONDO:Redundant", source="Orphanet:1930/btnt"} ! herpes simplex encephalitis intersection_of: MONDO:0012521 ! herpes simplex encephalitis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12033 ! TRAF3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12033 {source="mim2gene_medgen"} ! TRAF3 @@ -277179,7 +277044,7 @@ xref: OMIM:614850 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="MONDO:subClassOf", source="OMIM:614850"} xref: UMLS:C3553869 {source="OMIM:614850", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:614850", source="indirect"} ! encephalopathy, acute, infection-induced -is_a: MONDO:0012521 {source="MONDO:Redundant", source="ORDO:1930/btnt"} ! herpes simplex encephalitis +is_a: MONDO:0012521 {source="MONDO:Redundant", source="Orphanet:1930/btnt"} ! herpes simplex encephalitis intersection_of: MONDO:0012521 ! herpes simplex encephalitis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18348 ! TICAM1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18348 {source="mim2gene_medgen"} ! TICAM1 @@ -277198,8 +277063,8 @@ synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851] xref: DOID:0070011 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:319675/attributed", source="ORDO:319675/ntbt", source="Orphanet:319675"} -xref: OMIM:614851 {source="DOID:0070011", source="MONDO:equivalentTo", source="Orphanet:319675", source="ORDO:319675/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:319675", source="Orphanet:319675/attributed", source="Orphanet:319675/ntbt"} +xref: OMIM:614851 {source="Orphanet:319675/e", source="DOID:0070011", source="MONDO:equivalentTo", source="Orphanet:319675"} xref: Orphanet:319675 {source="OMIM:614851", source="MONDO:equivalentTo"} xref: UMLS:C3553870 {source="OMIM:614851", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019342 {source="DC-OMIM:614851", source="DOID:0070011", source="MONDO:Redundant", source="OMIM:614851"} ! Seckel syndrome @@ -277260,8 +277125,8 @@ synonym: "methylmalonic acidemia with homocystinuria type cblJ" RELATED [GARD:00 synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical, OMIM:614857] synonym: "methylmalonic aciduria with homocystinuria, type cblJ" EXACT [Orphanet:369955] xref: GARD:0012621 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="Orphanet:369955", source="ORDO:369955/attributed", source="ORDO:369955/ntbt"} -xref: OMIM:614857 {source="Orphanet:369955", source="ORDO:369955/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E71.1 {source="Orphanet:369955/attributed", source="Orphanet:369955/ntbt", source="Orphanet:369955"} +xref: OMIM:614857 {source="Orphanet:369955", source="MONDO:equivalentTo", source="Orphanet:369955/e"} xref: Orphanet:26 {source="MONDO:subClassOf", source="OMIM:614857"} xref: Orphanet:369955 {source="MONDO:equivalentTo", source="OMIM:614857"} xref: UMLS:C3553915 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614857"} @@ -277283,7 +277148,7 @@ xref: ICD10CM:E23.0 {source="DOID:0090087", source="MONDO:relatedTo"} xref: OMIM:614858 {source="DOID:0090087", source="MONDO:equivalentTo"} xref: UMLS:C3540450 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614858"} is_a: MONDO:0018555 {source="DOID:0090087", source="MONDO:Redundant", source="OMIM:614858", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13831 ! WDR11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13831 {source="mim2gene_medgen"} ! WDR11 @@ -277320,8 +277185,8 @@ synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2, OMIM:614860] synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern] synonym: "DYT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614860, Orphanet:420492] xref: DOID:0090051 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.8 {source="DOID:0090051", source="Orphanet:420492", source="ORDO:420492/attributed", source="ORDO:420492/ntbt"} -xref: OMIM:614860 {source="DOID:0090051", source="MONDO:equivalentTo", source="Orphanet:420492", source="ORDO:420492/e"} +xref: ICD10CM:G24.8 {source="DOID:0090051", source="Orphanet:420492/attributed", source="Orphanet:420492/ntbt", source="Orphanet:420492"} +xref: OMIM:614860 {source="DOID:0090051", source="Orphanet:420492/e", source="MONDO:equivalentTo", source="Orphanet:420492"} xref: Orphanet:420492 {source="DOID:0090051", source="OMIM:614860", source="MONDO:equivalentTo"} xref: UMLS:C3538999 {source="OMIM:614860", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:0090051"} ! focal dystonia @@ -277341,8 +277206,7 @@ synonym: "autosomal recessive deafness 98" NARROW [DOID:0110540] synonym: "autosomal recessive nonsyndromic deafness 98" NARROW CLINGEN_PREFERRED [OMIM:614861] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 98" NARROW [DOID:0110540, MONDORULE:2] -synonym: "deafness, autosomal recessive 98" NARROW [MONDO:Lexical, OMIM:614861] -synonym: "deafness, autosomal recessive 98" NARROW [OMIM:614861, OMIM:genemap2] +synonym: "deafness, autosomal recessive 98" NARROW [MONDO:Lexical, OMIM:614861, OMIM:genemap2] synonym: "deafness, autosomal recessive type 98" NARROW [MONDORULE:2, OMIM:614861] synonym: "DFNB98" NARROW ABBREVIATION [DOID:0110540, MONDO:Lexical, OMIM:614861] synonym: "TSPEAR autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -277451,8 +277315,8 @@ synonym: "STK4 deficiency" RELATED [OMIM:614868] synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical, OMIM:614868] synonym: "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" EXACT [OMIM:614868, OMIM:genemap2] synonym: "TIIAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614868] -xref: ICD10CM:D81.8 {source="Orphanet:314689", source="ORDO:314689/attributed", source="ORDO:314689/ntbt"} -xref: OMIM:614868 {source="Orphanet:314689", source="ORDO:314689/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D81.8 {source="Orphanet:314689", source="Orphanet:314689/attributed", source="Orphanet:314689/ntbt"} +xref: OMIM:614868 {source="Orphanet:314689", source="MONDO:equivalentTo", source="Orphanet:314689/e"} xref: Orphanet:314689 {source="MONDO:equivalentTo", source="OMIM:614868"} xref: UMLS:C3553943 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614868"} is_a: MONDO:0018814 {source="Orphanet:314689"} ! non-SCID combined immunodeficiency @@ -277587,7 +277451,7 @@ synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [O synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] -xref: OMIM:614875 {source="ORDO:99646/e", source="Orphanet:99646", source="MONDO:equivalentTo"} +xref: OMIM:614875 {source="Orphanet:99646", source="MONDO:equivalentTo", source="Orphanet:99646/e"} xref: Orphanet:99646 {source="OMIM:614875", source="MONDO:equivalentTo"} xref: UMLS:C3553958 {source="NCBI:mim2gene_medline", source="OMIM:614875", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:614875"} ! Mendelian disease @@ -277636,7 +277500,7 @@ subset: ordo_disease {source="Orphanet:324530"} synonym: "APLAID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614878, Orphanet:324530] synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT [OMIM:614878, OMIM:genemap2] synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical, OMIM:614878] -xref: OMIM:614878 {source="MONDO:equivalentTo", source="Orphanet:324530", source="ORDO:324530/e"} +xref: OMIM:614878 {source="Orphanet:324530/e", source="MONDO:equivalentTo", source="Orphanet:324530"} xref: Orphanet:324530 {source="MONDO:equivalentTo", source="OMIM:614878"} xref: UMLS:C3553961 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614878"} is_a: MONDO:0019751 {source="Orphanet:324530"} ! autoinflammatory syndrome @@ -277662,7 +277526,7 @@ xref: UMLS:C2749346 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614879 xref: UMLS:CN159238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019609 {source="DC-OMIM:614879"} ! Zellweger spectrum disorders relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8860 {source="mim2gene_medgen"} ! PEX7 -relationship: excluded_subClassOf MONDO:0009958 {source="ORDO:773/btnt"} ! adult Refsum disease +relationship: excluded_subClassOf MONDO:0009958 {source="Orphanet:773/btnt"} ! adult Refsum disease relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013945/inferred", source="MONDO:Redundant", source="OMIM:614879", source="indirect"} ! peroxisome biogenesis disorder relationship: has_modifier MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation property_value: confidence "0.8321428571428573" xsd:double @@ -277681,7 +277545,7 @@ xref: OMIM:614880 {source="DOID:0090075", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:614880"} xref: UMLS:C3553977 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614880"} is_a: MONDO:0018555 {source="DOID:0090075", source="MONDO:Redundant", source="OMIM:614880", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5201 ! HS6ST1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5201 {source="mim2gene_medgen"} ! HS6ST1 @@ -277698,8 +277562,8 @@ synonym: "dSMA5" EXACT [Orphanet:314485] synonym: "spinal muscular atrophy, distal, autosomal recessive, 5" RELATED [MONDO:Lexical, OMIM:614881] synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [MONDORULE:1, OMIM:614881] synonym: "Young adult-onset dHMN" EXACT [Orphanet:314485] -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:314485", source="ORDO:314485/attributed", source="ORDO:314485/ntbt"} -xref: OMIM:614881 {source="MONDO:equivalentTo", source="Orphanet:314485", source="ORDO:314485/e"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:314485/attributed", source="Orphanet:314485/ntbt", source="Orphanet:314485"} +xref: OMIM:614881 {source="Orphanet:314485/e", source="MONDO:equivalentTo", source="Orphanet:314485"} xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"} xref: UMLS:C3553989 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614881"} is_a: MONDO:0001516 {source="DC-OMIM:614881"} ! spinal muscular atrophy @@ -277838,8 +277702,8 @@ synonym: "immunodeficiency type 29" EXACT [MONDORULE:2, OMIM:614890] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] synonym: "MSMD due to complete IL12B deficiency" EXACT [Orphanet:319558] synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] -xref: ICD10CM:D84.8 {source="ORDO:319558/attributed", source="ORDO:319558/ntbt", source="Orphanet:319558"} -xref: OMIM:614890 {source="MONDO:equivalentTo", source="Orphanet:319558", source="ORDO:319558/e"} +xref: ICD10CM:D84.8 {source="Orphanet:319558/attributed", source="Orphanet:319558/ntbt", source="Orphanet:319558"} +xref: OMIM:614890 {source="Orphanet:319558/e", source="MONDO:equivalentTo", source="Orphanet:319558"} xref: Orphanet:319558 {source="MONDO:equivalentTo", source="OMIM:614890"} xref: UMLS:C4013948 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases @@ -277865,8 +277729,8 @@ synonym: "Mendelian susceptibility to mycobacterial infections due to IL12 defic synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [Orphanet:319552] synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552] xref: GARD:0010984 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D84.8 {source="ORDO:319552/attributed", source="ORDO:319552/ntbt", source="Orphanet:319552"} -xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source="ORDO:319552/e"} +xref: ICD10CM:D84.8 {source="Orphanet:319552", source="Orphanet:319552/attributed", source="Orphanet:319552/ntbt"} +xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source="Orphanet:319552/e"} xref: Orphanet:319552 {source="MONDO:equivalentTo", source="OMIM:614891"} xref: UMLS:C4013949 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases @@ -277889,8 +277753,8 @@ synonym: "MSMD due to partial signal transducer and activator of transcription 1 synonym: "MSMD due to partial STAT1 deficiency" EXACT [Orphanet:319595] synonym: "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Stat1 deficiency, autosomal dominant" RELATED [OMIM:614892] -xref: ICD10CM:D84.8 {source="ORDO:319595/attributed", source="ORDO:319595/ntbt", source="Orphanet:319595"} -xref: OMIM:614892 {source="MONDO:equivalentTo", source="ORDO:319595/e", source="Orphanet:319595"} +xref: ICD10CM:D84.8 {source="Orphanet:319595", source="Orphanet:319595/attributed", source="Orphanet:319595/ntbt"} +xref: OMIM:614892 {source="MONDO:equivalentTo", source="Orphanet:319595", source="Orphanet:319595/e"} xref: Orphanet:319595 {source="MONDO:equivalentTo", source="OMIM:614892"} xref: UMLS:C4013950 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases @@ -277914,8 +277778,8 @@ synonym: "IRF8 deficiency, autosomal dominant" RELATED [OMIM:614893] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] synonym: "MSMD due to partial IRF8 deficiency" EXACT [Orphanet:319600] -xref: ICD10CM:D84.8 {source="Orphanet:319600", source="ORDO:319600/attributed", source="ORDO:319600/ntbt"} -xref: OMIM:614893 {source="MONDO:equivalentTo", source="Orphanet:319600", source="ORDO:319600/e"} +xref: ICD10CM:D84.8 {source="Orphanet:319600/attributed", source="Orphanet:319600/ntbt", source="Orphanet:319600"} +xref: OMIM:614893 {source="Orphanet:319600/e", source="MONDO:equivalentTo", source="Orphanet:319600"} xref: Orphanet:319600 {source="OMIM:614893", source="MONDO:equivalentTo"} xref: UMLS:C3808589 {source="OMIM:614893", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases @@ -277945,8 +277809,8 @@ synonym: "PRX Charcot-Marie-Tooth disease type 4" EXACT [MONDO:patterns/disease_ synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110193 {source="MONDO:equivalentTo"} xref: GARD:0012441 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99952", source="DOID:0110193", source="ORDO:99952/attributed", source="ORDO:99952/ntbt"} -xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="ORDO:99952/e"} +xref: ICD10CM:G60.0 {source="Orphanet:99952/attributed", source="Orphanet:99952/ntbt", source="Orphanet:99952", source="DOID:0110193"} +xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="Orphanet:99952/e"} xref: Orphanet:99952 {source="OMIM:614895", source="MONDO:equivalentTo", source="DOID:0110193"} xref: SCTID:715801001 {source="MONDO:equivalentTo"} xref: UMLS:C3540453 {source="OMIM:614895", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -277966,7 +277830,7 @@ def: "Sinoatrial node dysfunction and deafness is a rare genetic disease charact subset: ordo_disease {source="Orphanet:324321"} synonym: "SANDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614896] synonym: "sinoatrial node dysfunction and deafness" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614896] -xref: OMIM:614896 {source="MONDO:equivalentTo", source="Orphanet:324321", source="ORDO:324321/e"} +xref: OMIM:614896 {source="Orphanet:324321/e", source="MONDO:equivalentTo", source="Orphanet:324321"} xref: Orphanet:324321 {source="OMIM:614896", source="MONDO:equivalentTo"} xref: UMLS:C3554018 {source="OMIM:614896", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015110 {source="Orphanet:324321"} ! genetic cardiac rhythm disease @@ -277987,7 +277851,7 @@ xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090080"} xref: OMIM:614897 {source="MONDO:equivalentTo", source="DOID:0090080"} xref: UMLS:C3554021 {source="NCBI:mim2gene_medline", source="OMIM:614897", source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="DOID:0090080", source="MONDO:Redundant", source="OMIM:614897", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10723 ! SEMA3A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10723 {source="mim2gene_medgen"} ! SEMA3A @@ -278007,8 +277871,8 @@ synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG53" EXACT ABBREVIATION [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199] synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110805 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:319199/attributed", source="ORDO:319199/ntbt", source="DOID:0110805", source="Orphanet:319199"} -xref: OMIM:614898 {source="MONDO:equivalentTo", source="ORDO:319199/e", source="DOID:0110805", source="Orphanet:319199"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/attributed", source="Orphanet:319199/ntbt"} +xref: OMIM:614898 {source="MONDO:equivalentTo", source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/e"} xref: Orphanet:319199 {source="OMIM:614898", source="MONDO:equivalentTo", source="DOID:0110805"} xref: SCTID:723823004 {source="MONDO:equivalentTo"} xref: UMLS:C3539494 {source="OMIM:614898", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -278029,8 +277893,7 @@ synonym: "autosomal recessive nonsyndromic deafness 93" NARROW CLINGEN_PREFERRED synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CABP2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 93" NARROW [DOID:0110537, MONDORULE:2] synonym: "CABP2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 93" NARROW [OMIM:614899, OMIM:genemap2] -synonym: "deafness, autosomal recessive 93" NARROW [MONDO:Lexical, OMIM:614899] +synonym: "deafness, autosomal recessive 93" NARROW [MONDO:Lexical, OMIM:614899, OMIM:genemap2] synonym: "deafness, autosomal recessive type 93" NARROW [MONDORULE:2, OMIM:614899] synonym: "DFNB93" NARROW ABBREVIATION [DOID:0110537, MONDO:Lexical, OMIM:614899] xref: DOID:0110537 {source="MONDO:equivalentTo"} @@ -278147,9 +278010,9 @@ synonym: "phosphoglucomutase-1 deficiency" EXACT [Orphanet:319646] synonym: "type 14 glycogenosis" RELATED [GARD:0004329] xref: DOID:0080570 {source="MONDO:equivalentTo"} xref: GARD:0004329 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:319646/attributed", source="ORDO:319646/ntbt", source="Orphanet:319646"} +xref: ICD10CM:E77.8 {source="Orphanet:319646/attributed", source="Orphanet:319646/ntbt", source="Orphanet:319646"} xref: MESH:C567859 {source="MONDO:equivalentTo"} -xref: OMIM:614921 {source="MONDO:equivalentTo", source="Orphanet:319646", source="ORDO:319646/e"} +xref: OMIM:614921 {source="Orphanet:319646/e", source="MONDO:equivalentTo", source="Orphanet:319646"} xref: Orphanet:319646 {source="MONDO:equivalentTo", source="OMIM:614921"} xref: UMLS:C2752015 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:319646"} xref: UMLS:C3554056 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:614921"} @@ -278175,8 +278038,8 @@ synonym: "COXPD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614922, Orphanet:3245 synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922] synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111481 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="Orphanet:324535", source="ORDO:324535/attributed", source="ORDO:324535/ntbt"} -xref: OMIM:614922 {source="ORDO:324535/e", source="Orphanet:324535", source="MONDO:equivalentTo"} +xref: ICD10CM:G31.8 {source="Orphanet:324535/attributed", source="Orphanet:324535/ntbt", source="Orphanet:324535"} +xref: OMIM:614922 {source="Orphanet:324535", source="MONDO:equivalentTo", source="Orphanet:324535/e"} xref: Orphanet:324535 {source="MONDO:equivalentTo", source="OMIM:614922"} xref: UMLS:C3554067 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614922"} is_a: MONDO:0000732 {source="DC-OMIM:614922", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency @@ -278199,8 +278062,8 @@ synonym: "BCKDKD" EXACT ABBREVIATION [DOID:0090126, MONDO:Lexical, OMIM:614923] synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency" RELATED [OMIM:614923] synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614923] xref: DOID:0090126 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:308410/attributed", source="ORDO:308410/ntbt", source="DOID:0090126", source="Orphanet:308410"} -xref: OMIM:614923 {source="MONDO:equivalentTo", source="DOID:0090126", source="ORDO:308410/e", source="Orphanet:308410"} +xref: ICD10CM:E71.1 {source="DOID:0090126", source="Orphanet:308410/attributed", source="Orphanet:308410/ntbt", source="Orphanet:308410"} +xref: OMIM:614923 {source="Orphanet:308410/e", source="MONDO:equivalentTo", source="DOID:0090126", source="Orphanet:308410"} xref: Orphanet:308410 {source="MONDO:equivalentTo", source="DOID:0090126", source="OMIM:614923"} xref: UMLS:C3554078 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614923"} is_a: MONDO:0006025 {source="DOID:0090126", source="MONDO:Redundant"} ! autosomal recessive disease @@ -278225,7 +278088,7 @@ synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate synd synonym: "LTBL" EXACT ABBREVIATION [Orphanet:314051] xref: DOID:0111493 {source="MONDO:equivalentTo"} xref: GARD:0013381 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:614924 {source="MONDO:equivalentTo", source="ORDO:314051/e", source="Orphanet:314051"} +xref: OMIM:614924 {source="MONDO:equivalentTo", source="Orphanet:314051", source="Orphanet:314051/e"} xref: Orphanet:314051 {source="MONDO:equivalentTo", source="OMIM:614924"} xref: SCTID:763366000 {source="MONDO:equivalentTo"} xref: UMLS:C3554079 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614924"} @@ -278275,7 +278138,7 @@ xref: DOID:0111659 {source="MONDO:equivalentTo"} xref: OMIM:614928 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="MONDO:subClassOf", source="OMIM:614928"} xref: UMLS:C3554111 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614928"} -is_a: MONDO:0019071 {source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614928", source="indirect"} ! ectodermal dysplasia syndrome property_value: confidence "3.3790228975414154" xsd:double @@ -278291,7 +278154,7 @@ xref: DOID:0111660 {source="MONDO:equivalentTo"} xref: OMIM:614929 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="MONDO:subClassOf", source="OMIM:614929"} xref: UMLS:C3554117 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614929"} -is_a: MONDO:0019071 {source="MONDO:Redundant", source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614929", source="indirect"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28929 ! KRT74 @@ -278310,7 +278173,7 @@ xref: DOID:0111656 {source="MONDO:equivalentTo"} xref: OMIM:614931 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="MONDO:subClassOf", source="OMIM:614931"} xref: UMLS:C3554127 {source="OMIM:614931", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019071 {source="MONDO:Redundant", source="ORDO:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614931", source="indirect"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5125 ! HOXC13 @@ -278328,8 +278191,8 @@ synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORUL synonym: "COXPD13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614932, Orphanet:319514] synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111467 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:319514/attributed", source="ORDO:319514/ntbt", source="Orphanet:319514"} -xref: OMIM:614932 {source="MONDO:equivalentTo", source="Orphanet:319514", source="ORDO:319514/e"} +xref: ICD10CM:G71.3 {source="Orphanet:319514/attributed", source="Orphanet:319514/ntbt", source="Orphanet:319514"} +xref: OMIM:614932 {source="Orphanet:319514/e", source="MONDO:equivalentTo", source="Orphanet:319514"} xref: Orphanet:319514 {source="MONDO:equivalentTo", source="OMIM:614932"} xref: SCTID:763110007 {source="MONDO:equivalentTo"} xref: UMLS:C3554129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614932"} @@ -278348,8 +278211,7 @@ synonym: "autosomal recessive deafness 70" NARROW [DOID:0110521] synonym: "autosomal recessive nonsyndromic deafness 70" NARROW [OMIM:614934] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 70" NARROW [DOID:0110521, MONDORULE:2] -synonym: "deafness, autosomal recessive 70" NARROW [MONDO:Lexical, OMIM:614934] -synonym: "deafness, autosomal recessive 70" NARROW [OMIM:614934, OMIM:genemap2] +synonym: "deafness, autosomal recessive 70" NARROW [MONDO:Lexical, OMIM:614934, OMIM:genemap2] synonym: "deafness, autosomal recessive type 70" NARROW [MONDORULE:2, OMIM:614934] synonym: "DFNB70" NARROW ABBREVIATION [DOID:0110521, MONDO:Lexical, OMIM:614934] synonym: "PNPT1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -278395,7 +278257,7 @@ synonym: "PPKP1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614936] xref: OMIM:614936 {source="MONDO:equivalentTo"} xref: Orphanet:79501 {source="MONDO:subClassOf", source="OMIM:614936"} xref: UMLS:C3554145 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614936"} -is_a: MONDO:0019332 {source="ORDO:79501/btnt"} ! punctate palmoplantar keratoderma type 1 +is_a: MONDO:0019332 {source="Orphanet:79501/btnt"} ! punctate palmoplantar keratoderma type 1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "35.66666666666666" xsd:double @@ -278408,8 +278270,8 @@ synonym: "familial cortical myoclonus" EXACT [OMIM:614937] synonym: "familial myoclonus" EXACT [OMIMPS:614937] synonym: "FCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614937] synonym: "myoclonus, familial cortical" EXACT [MONDO:Lexical, OMIM:614937] -xref: ICD10CM:G25.3 {source="ORDO:319189/attributed", source="ORDO:319189/ntbt", source="Orphanet:319189"} -xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="ORDO:319189/e"} +xref: ICD10CM:G25.3 {source="Orphanet:319189", source="Orphanet:319189/attributed", source="Orphanet:319189/ntbt"} +xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="Orphanet:319189/e"} xref: Orphanet:319189 {source="MONDO:equivalentTo", source="OMIM:614937"} xref: SCTID:763770005 {source="MONDO:equivalentTo"} xref: UMLS:C3539916 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614937"} @@ -278427,7 +278289,7 @@ xref: OMIM:614940 {source="MONDO:equivalentTo"} xref: Orphanet:1810 {source="MONDO:subClassOf", source="OMIM:614940"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:614940"} xref: UMLS:C3541517 {source="OMIM:614940", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015884 {source="ORDO:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia +is_a: MONDO:0015884 {source="Orphanet:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614940", source="indirect"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14341 {source="mim2gene_medgen"} ! EDARADD property_value: confidence "1.013902333975493" xsd:double @@ -278444,7 +278306,7 @@ xref: OMIM:614941 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:614941"} xref: Orphanet:248 {source="MONDO:subClassOf", source="OMIM:614941"} xref: UMLS:C3539920 {source="NCBI:mim2gene_medline", source="OMIM:614941", source="MONDO:equivalentTo"} -is_a: MONDO:0016619 {source="ORDO:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia +is_a: MONDO:0016619 {source="Orphanet:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614941", source="indirect"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14341 {source="mim2gene_medgen"} ! EDARADD property_value: confidence "1.013902333975493" xsd:double @@ -278508,8 +278370,8 @@ synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORUL synonym: "COXPD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614946, Orphanet:319519] synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111477 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:319519", source="ORDO:319519/attributed", source="ORDO:319519/ntbt"} -xref: OMIM:614946 {source="ORDO:319519/e", source="Orphanet:319519", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.8 {source="Orphanet:319519/attributed", source="Orphanet:319519/ntbt", source="Orphanet:319519"} +xref: OMIM:614946 {source="Orphanet:319519", source="MONDO:equivalentTo", source="Orphanet:319519/e"} xref: Orphanet:319519 {source="MONDO:equivalentTo", source="OMIM:614946"} xref: UMLS:C3554168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614946"} is_a: MONDO:0000732 {source="DC-OMIM:614946", source="MONDO:Redundant", source="OMIM:614946"} ! combined oxidative phosphorylation deficiency @@ -278531,8 +278393,8 @@ synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORUL synonym: "COXPD15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614947, Orphanet:319524] synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111491 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:319524/attributed", source="ORDO:319524/ntbt", source="Orphanet:319524"} -xref: OMIM:614947 {source="MONDO:equivalentTo", source="ORDO:319524/e", source="Orphanet:319524"} +xref: ICD10CM:G31.8 {source="Orphanet:319524/attributed", source="Orphanet:319524/ntbt", source="Orphanet:319524"} +xref: OMIM:614947 {source="Orphanet:319524/e", source="MONDO:equivalentTo", source="Orphanet:319524"} xref: Orphanet:319524 {source="MONDO:equivalentTo", source="OMIM:614947"} xref: SCTID:763203009 {source="MONDO:equivalentTo"} xref: UMLS:C3554182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614947"} @@ -278590,8 +278452,8 @@ synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324 synonym: "pontocerebellar hypoplasia type 8" EXACT CLINGEN_PREFERRED [] synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961] xref: DOID:0060277 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="DOID:0060277", source="Orphanet:324569", source="ORDO:324569/attributed", source="ORDO:324569/ntbt"} -xref: OMIM:614961 {source="DOID:0060277", source="Orphanet:324569", source="ORDO:324569/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q04.3 {source="Orphanet:324569/attributed", source="Orphanet:324569/ntbt", source="DOID:0060277", source="Orphanet:324569"} +xref: OMIM:614961 {source="DOID:0060277", source="Orphanet:324569", source="MONDO:equivalentTo", source="Orphanet:324569/e"} xref: Orphanet:324569 {source="DOID:0060277", source="OMIM:614961", source="MONDO:equivalentTo"} xref: SCTID:718611007 {source="MONDO:equivalentTo"} xref: UMLS:C3554209 {source="OMIM:614961", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -278613,8 +278475,8 @@ synonym: "obesity, morbid, due to leptin deficiency" EXACT [OMIM:614962, OMIM:ge synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962] xref: DOID:0111334 {source="MONDO:equivalentTo"} xref: GARD:0013015 {source="MONDO:equivalentTo"} -xref: ICD10CM:E66.8 {source="ORDO:66628/attributed", source="ORDO:66628/ntbt", source="Orphanet:66628"} -xref: OMIM:614962 {source="ORDO:66628/e", source="MONDO:equivalentTo", source="Orphanet:66628"} +xref: ICD10CM:E66.8 {source="Orphanet:66628", source="Orphanet:66628/attributed", source="Orphanet:66628/ntbt"} +xref: OMIM:614962 {source="MONDO:equivalentTo", source="Orphanet:66628", source="Orphanet:66628/e"} xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"} xref: UMLS:C3554224 {source="OMIM:614962", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism @@ -278637,9 +278499,9 @@ synonym: "leptin receptor deficiency" RELATED [OMIM:614963] synonym: "obesity due to leptin receptor gene deficiency" EXACT CLINGEN_PREFERRED [] synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [OMIM:614963, OMIM:genemap2] synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963] -xref: ICD10CM:E66.8 {source="ORDO:179494/attributed", source="ORDO:179494/ntbt", source="Orphanet:179494"} +xref: ICD10CM:E66.8 {source="Orphanet:179494/attributed", source="Orphanet:179494/ntbt", source="Orphanet:179494"} xref: NCIT:C120386 {source="MONDO:equivalentTo"} -xref: OMIM:614963 {source="MONDO:equivalentTo", source="ORDO:179494/e", source="Orphanet:179494"} +xref: OMIM:614963 {source="Orphanet:179494/e", source="MONDO:equivalentTo", source="Orphanet:179494"} xref: Orphanet:179494 {source="OMIM:614963", source="MONDO:equivalentTo"} xref: UMLS:C3554225 {source="NCBI:mim2gene_medline", source="OMIM:614963", source="MONDO:equivalentTo"} is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism @@ -278662,8 +278524,8 @@ synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:61496 synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339] synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060276 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="DOID:0060276", source="Orphanet:284339", source="ORDO:284339/attributed", source="ORDO:284339/ntbt"} -xref: OMIM:614969 {source="DOID:0060276", source="MONDO:equivalentTo", source="Orphanet:284339", source="ORDO:284339/e"} +xref: ICD10CM:Q04.3 {source="DOID:0060276", source="Orphanet:284339/attributed", source="Orphanet:284339/ntbt", source="Orphanet:284339"} +xref: OMIM:614969 {source="Orphanet:284339/e", source="DOID:0060276", source="MONDO:equivalentTo", source="Orphanet:284339"} xref: Orphanet:284339 {source="DOID:0060276", source="MONDO:equivalentTo", source="OMIM:614969"} xref: SCTID:718605009 {source="MONDO:equivalentTo"} xref: UMLS:C3554226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614969"} @@ -278707,7 +278569,7 @@ xref: Orphanet:69665 {source="MONDO:subClassOf", source="OMIM:614972"} xref: UMLS:C3554241 {source="OMIM:614972", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0100429 {source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/45 {source="mim2gene_medgen"} ! ABCB4 -relationship: excluded_subClassOf MONDO:0019072 {source="ORDO:69665/btnt"} ! intrahepatic cholestasis +relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt"} ! intrahepatic cholestasis property_value: confidence "0.16666666666666674" xsd:double property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3897 xsd:string @@ -278720,8 +278582,8 @@ synonym: "Brauer-Setleis syndrome" RELATED [OMIM:614973] synonym: "FFDD type II" EXACT [Orphanet:398173] synonym: "FFDD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614973, Orphanet:398173] synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173] -xref: ICD10CM:Q82.8 {source="Orphanet:398173", source="ORDO:398173/attributed", source="ORDO:398173/ntbt"} -xref: OMIM:614973 {source="MONDO:equivalentTo", source="Orphanet:398173", source="ORDO:398173/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:398173/attributed", source="Orphanet:398173/ntbt", source="Orphanet:398173"} +xref: OMIM:614973 {source="Orphanet:398173/e", source="MONDO:equivalentTo", source="Orphanet:398173"} xref: Orphanet:398166 {source="MONDO:subClassOf", source="OMIM:614973"} xref: Orphanet:398173 {source="OMIM:614973", source="MONDO:equivalentTo"} xref: UMLS:C1744559 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:398173"} @@ -278740,8 +278602,8 @@ synonym: "FFDD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614974, Orphanet:398189 synonym: "focal facial dermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189] synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614974] synonym: "focal facial preauricular dysplasia" EXACT [Orphanet:398189] -xref: ICD10CM:Q82.8 {source="Orphanet:398189", source="ORDO:398189/attributed", source="ORDO:398189/ntbt"} -xref: OMIM:614974 {source="ORDO:398189/e", source="Orphanet:398189", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:398189/attributed", source="Orphanet:398189/ntbt", source="Orphanet:398189"} +xref: OMIM:614974 {source="Orphanet:398189", source="MONDO:equivalentTo", source="Orphanet:398189/e"} xref: Orphanet:398166 {source="MONDO:subClassOf", source="OMIM:614974"} xref: Orphanet:398189 {source="OMIM:614974", source="MONDO:equivalentTo"} xref: UMLS:C3554246 {source="NCBI:mim2gene_medline", source="OMIM:614974", source="MONDO:equivalentTo"} @@ -278775,7 +278637,7 @@ def: "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disor subset: ordo_disease {source="Orphanet:313800"} synonym: "ROSAH syndrome" EXACT [OMIM:614979, OMIM:genemap2] synonym: "splenomegaly, cytopenia, and vision loss" RELATED [OMIM:614979] -xref: OMIM:614979 {source="Orphanet:313800", source="ORDO:313800/e", source="MONDO:equivalentTo"} +xref: OMIM:614979 {source="Orphanet:313800", source="MONDO:equivalentTo", source="Orphanet:313800/e"} xref: Orphanet:313800 {source="MONDO:equivalentTo", source="OMIM:614979"} xref: UMLS:C3554278 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614979"} is_a: MONDO:0020249 {source="Orphanet:313800"} ! hereditary optic neuropathy @@ -278859,7 +278721,7 @@ xref: DOID:0080414 {source="MONDO:equivalentTo"} xref: OMIM:615006 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:615006"} xref: UMLS:C3554316 {source="OMIM:615006", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:615006", source="OMIM:615006"} ! developmental and epileptic encephalopathy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "6.200000000000001" xsd:double @@ -278873,7 +278735,7 @@ synonym: "IBGC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615007] xref: OMIM:615007 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="MONDO:subClassOf", source="OMIM:615007"} xref: UMLS:C3554321 {source="NCBI:mim2gene_medline", source="OMIM:615007", source="MONDO:equivalentTo"} -is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615007", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis +is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615007", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8804 {source="mim2gene_medgen"} ! PDGFRB relationship: has_modifier MONDO:0700005 ! idiopathic property_value: confidence "0.5" xsd:double @@ -278896,21 +278758,21 @@ synonym: "Mesangiocapillary glomerulonephritis type 1" EXACT [NCIT:C123055] synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical, OMIM:615008] synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [OMIM:615008] synonym: "NPHS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615008] -xref: ICD10CM:N00.5 {source="Orphanet:329903", source="ORDO:329903/attributed", source="ORDO:329903/ntbt"} +xref: ICD10CM:N00.5 {source="Orphanet:329903/attributed", source="Orphanet:329903/ntbt", source="Orphanet:329903"} xref: NCIT:C123055 {source="MONDO:equivalentTo"} -xref: OMIM:615008 {source="ORDO:329903/e", source="Orphanet:329903", source="MONDO:equivalentTo"} +xref: OMIM:615008 {source="Orphanet:329903", source="MONDO:equivalentTo", source="Orphanet:329903/e"} xref: Orphanet:2134 {source="MONDO:subClassOf", source="OMIM:615008"} xref: Orphanet:329903 {source="OMIM:615008", source="MONDO:equivalentTo"} xref: Orphanet:357008 {source="OMIM:615008", source="MONDO:superClassOf"} xref: Orphanet:54370 {source="MONDO:subClassOf", source="OMIM:615008"} -xref: UMLS:C0268742 {source="ORDO:329903/e", source="Orphanet:329903", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1720821 {source="ORDO:329903/e", source="Orphanet:329903", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268742 {source="Orphanet:329903", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:329903/e"} +xref: UMLS:C1720821 {source="Orphanet:329903", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:329903/e"} xref: UMLS:C3554330 {source="OMIM:615008", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3808619 {source="OMIM:615008", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3808620 {source="OMIM:615008", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002350 {source="OMIM:615008"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="DC-OMIM:615008", source="MONDO:Redundant", source="indirect"} ! nephrotic syndrome -is_a: MONDO:0016244 {source="ORDO:2134/btnt"} ! atypical hemolytic-uremic syndrome +is_a: MONDO:0016244 {source="Orphanet:2134/btnt"} ! atypical hemolytic-uremic syndrome is_a: MONDO:0018904 {source="NCIT:C123055", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2852 {source="mim2gene_medgen"} ! DGKE property_value: confidence "1.2474747474747478" xsd:double @@ -278935,7 +278797,7 @@ synonym: "SHMS" EXACT ABBREVIATION [DOID:0070047] xref: DOID:0070047 {source="MONDO:equivalentTo"} xref: GARD:0013043 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: NCIT:C150555 {source="MONDO:equivalentTo"} -xref: OMIM:615009 {source="DOID:0070047", source="MONDO:equivalentTo", source="ORDO:329224/e", source="Orphanet:329224"} +xref: OMIM:615009 {source="Orphanet:329224/e", source="DOID:0070047", source="MONDO:equivalentTo", source="Orphanet:329224"} xref: Orphanet:329224 {source="MONDO:equivalentTo", source="OMIM:615009"} xref: UMLS:C3554343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615009"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329224", source="indirect"} ! syndromic intellectual disability @@ -278973,8 +278835,7 @@ name: phosphohydroxylysinuria synonym: "PHLU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615011] synonym: "PHOSPHOHYDROXYLYSINURIA" RELATED ABBREVIATION [OMIM:615011] synonym: "Phosphohydroxylysinuria" EXACT [MONDO:Lexical, OMIM:615011] -synonym: "phosphohydroxylysinuria" EXACT CLINGEN_PREFERRED [] -synonym: "phosphohydroxylysinuria" EXACT [OMIM:615011, OMIM:genemap2] +synonym: "phosphohydroxylysinuria" EXACT CLINGEN_PREFERRED [OMIM:615011, OMIM:genemap2] xref: OMIM:615011 {source="MONDO:equivalentTo"} xref: UMLS:C3554344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615011"} is_a: MONDO:0003847 ! Mendelian disease @@ -278994,7 +278855,7 @@ xref: OMIM:615022 {source="MONDO:equivalentTo", source="DOID:0060716"} xref: Orphanet:79394 {source="MONDO:subClassOf", source="OMIM:615022"} xref: UMLS:C3554348 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615022"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615022", source="indirect"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma +is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:615022"} ! Autosomal recessive inheritance property_value: confidence "0.04999999999999982" xsd:double @@ -279013,7 +278874,7 @@ xref: OMIM:615023 {source="MONDO:equivalentTo", source="DOID:0060718"} xref: Orphanet:79394 {source="MONDO:subClassOf", source="OMIM:615023"} xref: UMLS:C3554349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615023"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615023", source="indirect"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma +is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23752 ! CERS3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23752 {source="mim2gene_medgen"} ! CERS3 @@ -279036,7 +278897,7 @@ xref: OMIM:615024 {source="DOID:0060719", source="MONDO:equivalentTo"} xref: Orphanet:79394 {source="MONDO:subClassOf", source="OMIM:615024"} xref: UMLS:C3554355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615024"} is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615024", source="indirect"} ! autosomal recessive congenital ichthyosis -is_a: MONDO:0019306 {source="ORDO:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma +is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21246 ! PNPLA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21246 {source="mim2gene_medgen"} ! PNPLA1 @@ -279062,8 +278923,8 @@ synonym: "CMT2Q" EXACT ABBREVIATION [DOID:0110170, MONDO:Lexical, OMIM:615025, O synonym: "DHTKD1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110170 {source="MONDO:equivalentTo"} xref: GARD:0012446 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="DOID:0110170", source="Orphanet:329258", source="ORDO:329258/attributed", source="ORDO:329258/ntbt"} -xref: OMIM:615025 {source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258", source="ORDO:329258/e"} +xref: ICD10CM:G60.0 {source="DOID:0110170", source="Orphanet:329258/attributed", source="Orphanet:329258/ntbt", source="Orphanet:329258"} +xref: OMIM:615025 {source="Orphanet:329258/e", source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258"} xref: Orphanet:329258 {source="OMIM:615025", source="DOID:0110170", source="MONDO:equivalentTo"} xref: UMLS:C3554366 {source="OMIM:615025", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110170/inferred", source="MONDO:Redundant", source="OMIM:615025", source="Orphanet:329258/inferred"} ! Charcot-Marie-Tooth disease @@ -279080,8 +278941,8 @@ subset: ordo_disease {source="Orphanet:411712"} synonym: "maternal riboflavin deficiency" EXACT CLINGEN_PREFERRED [] synonym: "RBFVD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615026] synonym: "riboflavin deficiency" BROAD [MONDO:Lexical, OMIM:615026] -xref: ICD10CM:P00.4 {source="ORDO:411712/attributed", source="ORDO:411712/ntbt", source="Orphanet:411712"} -xref: OMIM:615026 {source="MONDO:subClassOf", source="ORDO:411712/e", source="Orphanet:411712"} +xref: ICD10CM:P00.4 {source="Orphanet:411712", source="Orphanet:411712/attributed", source="Orphanet:411712/ntbt"} +xref: OMIM:615026 {source="MONDO:subClassOf", source="Orphanet:411712", source="Orphanet:411712/e"} xref: Orphanet:411712 {source="OMIM:615026", source="MONDO:equivalentTo"} xref: UMLS:C0035528 {source="OMIM:615026", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004573 {source="https://orcid.org/0000-0002-4142-7153"} ! ariboflavinosis @@ -279098,8 +278959,8 @@ synonym: "EBS-AR exophilin 5" EXACT [Orphanet:412189] synonym: "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" EXACT [OMIM:615028, OMIM:genemap2] synonym: "epidermolysis bullosa simplex due to exophilin 5 deficiency" EXACT CLINGEN_PREFERRED [Orphanet:412189] synonym: "epidermolysis bullosa, nonspecific, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615028] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:412189/attributed", source="ORDO:412189/ntbt", source="Orphanet:412189"} -xref: OMIM:615028 {source="MONDO:equivalentTo", source="Orphanet:412189", source="ORDO:412189/e"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:412189/attributed", source="Orphanet:412189/ntbt", source="Orphanet:412189"} +xref: OMIM:615028 {source="Orphanet:412189/e", source="MONDO:equivalentTo", source="Orphanet:412189"} xref: Orphanet:412189 {source="OMIM:615028", source="MONDO:equivalentTo"} xref: UMLS:C3554367 {source="OMIM:615028", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015551 {source="Orphanet:412189"} ! basal epidermolysis bullosa simplex @@ -279122,8 +278983,8 @@ synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE: synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030] synonym: "SPG56" EXACT ABBREVIATION [DOID:0110808, MONDO:Lexical, OMIM:615030, Orphanet:320411] xref: DOID:0110808 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320411", source="ORDO:320411/attributed", source="ORDO:320411/ntbt", source="DOID:0110808"} -xref: OMIM:615030 {source="Orphanet:320411", source="ORDO:320411/e", source="MONDO:equivalentTo", source="DOID:0110808"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320411/attributed", source="Orphanet:320411/ntbt", source="Orphanet:320411", source="DOID:0110808"} +xref: OMIM:615030 {source="Orphanet:320411", source="MONDO:equivalentTo", source="DOID:0110808", source="Orphanet:320411/e"} xref: Orphanet:320411 {source="MONDO:equivalentTo", source="DOID:0110808", source="OMIM:615030"} xref: UMLS:C3539507 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615030"} is_a: MONDO:0017915 {source="Orphanet:320411"} ! pure or complex autosomal recessive spastic paraplegia @@ -279148,8 +279009,8 @@ synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SPG49" EXACT ABBREVIATION [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385] synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110801 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320385", source="DOID:0110801", source="ORDO:320385/attributed", source="ORDO:320385/ntbt"} -xref: OMIM:615031 {source="Orphanet:320385", source="ORDO:320385/e", source="DOID:0110801", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320385", source="DOID:0110801", source="Orphanet:320385/attributed", source="Orphanet:320385/ntbt"} +xref: OMIM:615031 {source="Orphanet:320385", source="DOID:0110801", source="MONDO:equivalentTo", source="Orphanet:320385/e"} xref: Orphanet:320385 {source="DOID:0110801", source="MONDO:equivalentTo", source="OMIM:615031"} xref: UMLS:C3542549 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615031"} is_a: MONDO:0015089 {source="Orphanet:320385"} ! autosomal recessive complex spastic paraplegia @@ -279190,8 +279051,8 @@ synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE: synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033] synonym: "SPG54" EXACT ABBREVIATION [DOID:0110806, MONDO:Lexical, OMIM:615033, Orphanet:320380] xref: DOID:0110806 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320380/attributed", source="ORDO:320380/ntbt", source="DOID:0110806", source="Orphanet:320380"} -xref: OMIM:615033 {source="MONDO:equivalentTo", source="DOID:0110806", source="ORDO:320380/e", source="Orphanet:320380"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110806", source="Orphanet:320380/attributed", source="Orphanet:320380/ntbt", source="Orphanet:320380"} +xref: OMIM:615033 {source="Orphanet:320380/e", source="MONDO:equivalentTo", source="DOID:0110806", source="Orphanet:320380"} xref: Orphanet:320380 {source="MONDO:equivalentTo", source="DOID:0110806", source="OMIM:615033"} xref: SCTID:723824005 {source="MONDO:equivalentTo"} xref: UMLS:C3539495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615033"} @@ -279218,8 +279079,8 @@ synonym: "DYT-ANO3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cj synonym: "DYT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615034, Orphanet:420485] xref: DOID:0090052 {source="MONDO:equivalentTo"} xref: EFO:0009040 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.8 {source="DOID:0090052", source="Orphanet:420485", source="ORDO:420485/attributed", source="ORDO:420485/ntbt"} -xref: OMIM:615034 {source="DOID:0090052", source="Orphanet:420485", source="ORDO:420485/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G24.8 {source="DOID:0090052", source="Orphanet:420485", source="Orphanet:420485/attributed", source="Orphanet:420485/ntbt"} +xref: OMIM:615034 {source="DOID:0090052", source="Orphanet:420485", source="MONDO:equivalentTo", source="Orphanet:420485/e"} xref: Orphanet:420485 {source="DOID:0090052", source="MONDO:equivalentTo", source="OMIM:615034"} xref: UMLS:C3554374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615034"} is_a: MONDO:0015990 {source="EFO:0009040", source="Orphanet:420485"} ! focal, segmental or multifocal dystonia @@ -279238,8 +279099,8 @@ synonym: "hereditary spastic paraplegia type 55" EXACT [DOID:0110807, MONDORULE: synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615035] synonym: "SPG55" EXACT ABBREVIATION [DOID:0110807, MONDO:Lexical, OMIM:615035, Orphanet:320375] xref: DOID:0110807 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320375", source="DOID:0110807", source="ORDO:320375/attributed", source="ORDO:320375/ntbt"} -xref: OMIM:615035 {source="ORDO:320375/e", source="Orphanet:320375", source="MONDO:equivalentTo", source="DOID:0110807"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320375/attributed", source="Orphanet:320375/ntbt", source="Orphanet:320375", source="DOID:0110807"} +xref: OMIM:615035 {source="Orphanet:320375", source="MONDO:equivalentTo", source="Orphanet:320375/e", source="DOID:0110807"} xref: Orphanet:320375 {source="MONDO:equivalentTo", source="DOID:0110807", source="OMIM:615035"} xref: SCTID:723825006 {source="MONDO:equivalentTo"} xref: UMLS:C3539506 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615035"} @@ -279258,8 +279119,8 @@ subset: ordo_clinical_subtype {source="Orphanet:391389"} synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:615040] synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:615040] synonym: "FEPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615040] -xref: ICD10CM:M79.6 {source="ORDO:391389/attributed", source="ORDO:391389/ntbt", source="Orphanet:391389"} -xref: OMIM:615040 {source="MONDO:equivalentTo", source="Orphanet:391389", source="ORDO:391389/e"} +xref: ICD10CM:M79.6 {source="Orphanet:391389", source="Orphanet:391389/attributed", source="Orphanet:391389/ntbt"} +xref: OMIM:615040 {source="Orphanet:391389/e", source="MONDO:equivalentTo", source="Orphanet:391389"} xref: Orphanet:391384 {source="MONDO:subClassOf", source="OMIM:615040"} xref: Orphanet:391389 {source="MONDO:equivalentTo", source="OMIM:615040"} xref: UMLS:C3808667 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615040"} @@ -279282,7 +279143,7 @@ xref: DOID:0111239 {source="MONDO:equivalentTo"} xref: OMIM:615041 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615041"} xref: UMLS:C3554381 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615041"} -is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615041", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615041", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13530 ! RXYLT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13530 {source="mim2gene_medgen"} ! RXYLT1 @@ -279304,8 +279165,8 @@ synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical, synonym: "DPM2-CDG" EXACT [Orphanet:329178] xref: DOID:0080571 {source="MONDO:equivalentTo"} xref: GARD:0012416 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:329178/attributed", source="ORDO:329178/ntbt", source="Orphanet:329178"} -xref: OMIM:615042 {source="MONDO:equivalentTo", source="ORDO:329178/e", source="Orphanet:329178"} +xref: ICD10CM:E77.8 {source="Orphanet:329178/attributed", source="Orphanet:329178/ntbt", source="Orphanet:329178"} +xref: OMIM:615042 {source="Orphanet:329178/e", source="MONDO:equivalentTo", source="Orphanet:329178"} xref: Orphanet:329178 {source="MONDO:equivalentTo", source="OMIM:615042"} xref: UMLS:C3554385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615042"} is_a: MONDO:0005066 ! metabolic disease @@ -279332,8 +279193,8 @@ synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE: synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043] synonym: "SPG43" EXACT ABBREVIATION [DOID:0110795, MONDO:Lexical, OMIM:615043, Orphanet:320370] xref: DOID:0110795 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320370", source="ORDO:320370/attributed", source="ORDO:320370/ntbt", source="DOID:0110795"} -xref: OMIM:615043 {source="MONDO:equivalentTo", source="Orphanet:320370", source="ORDO:320370/e", source="DOID:0110795"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320370/attributed", source="Orphanet:320370/ntbt", source="Orphanet:320370", source="DOID:0110795"} +xref: OMIM:615043 {source="Orphanet:320370/e", source="MONDO:equivalentTo", source="Orphanet:320370", source="DOID:0110795"} xref: Orphanet:320370 {source="MONDO:equivalentTo", source="OMIM:615043", source="DOID:0110795"} xref: SCTID:764736001 {source="MONDO:equivalentTo"} xref: UMLS:C2680446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615043"} @@ -279350,8 +279211,8 @@ name: lower motor neuron syndrome with late-adult onset subset: ordo_disease {source="Orphanet:276435"} synonym: "SMAJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615048] synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615048] -xref: ICD10CM:G12.1 {source="ORDO:276435/attributed", source="ORDO:276435/ntbt", source="Orphanet:276435"} -xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="ORDO:276435/e"} +xref: ICD10CM:G12.1 {source="Orphanet:276435", source="Orphanet:276435/attributed", source="Orphanet:276435/ntbt"} +xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="Orphanet:276435/e"} xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"} xref: UMLS:C3554398 {source="OMIM:615048", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001516 {source="DC-OMIM:615048"} ! spinal muscular atrophy @@ -279395,7 +279256,7 @@ xref: OMIM:615059 {source="MONDO:equivalentTo", source="DOID:0110708"} xref: Orphanet:55654 {source="MONDO:subClassOf", source="OMIM:615059"} xref: UMLS:C3554409 {source="OMIM:615059", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110708", source="MONDO:Redundant", source="OMIM:615059", source="indirect"} ! hypotrichosis -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11161 ! SNRPE relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11161 {source="mim2gene_medgen"} ! SNRPE @@ -279415,8 +279276,8 @@ synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet: synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111594 {source="MONDO:equivalentTo"} xref: GARD:0013059 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="ORDO:329457/attributed", source="ORDO:329457/ntbt", source="Orphanet:329457"} -xref: OMIM:615065 {source="MONDO:equivalentTo", source="ORDO:329457/e", source="Orphanet:329457"} +xref: ICD10CM:Q68.8 {source="Orphanet:329457/attributed", source="Orphanet:329457/ntbt", source="Orphanet:329457"} +xref: OMIM:615065 {source="Orphanet:329457/e", source="MONDO:equivalentTo", source="Orphanet:329457"} xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"} xref: UMLS:C3554415 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615065"} is_a: MONDO:0019942 {source="DC-OMIM:615065", source="MONDO:Redundant", source="Orphanet:329457"} ! distal arthrogryposis @@ -279478,8 +279339,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:319671"} synonym: "Alazami syndrome" EXACT [MONDO:Lexical, OMIM:615071, Orphanet:319671] synonym: "ALAZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615071] synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [OMIM:615071] -xref: ICD10CM:Q87.1 {source="ORDO:319671/attributed", source="ORDO:319671/ntbt", source="Orphanet:319671"} -xref: OMIM:615071 {source="MONDO:equivalentTo", source="Orphanet:319671", source="ORDO:319671/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:319671", source="Orphanet:319671/attributed", source="Orphanet:319671/ntbt"} +xref: OMIM:615071 {source="MONDO:equivalentTo", source="Orphanet:319671", source="Orphanet:319671/e"} xref: Orphanet:319671 {source="MONDO:equivalentTo", source="OMIM:615071"} xref: UMLS:C3554439 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615071"} is_a: MONDO:0017950 {source="Orphanet:319671"} ! microcephalic primordial dwarfism @@ -279514,8 +279375,8 @@ synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_patt synonym: "DYT25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615073] synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090055 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="ORDO:329466/attributed", source="ORDO:329466/ntbt", source="DOID:0090055", source="Orphanet:329466"} -xref: OMIM:615073 {source="DOID:0090055", source="MONDO:equivalentTo", source="ORDO:329466/e", source="Orphanet:329466"} +xref: ICD10CM:G24.1 {source="DOID:0090055", source="Orphanet:329466/attributed", source="Orphanet:329466/ntbt", source="Orphanet:329466"} +xref: OMIM:615073 {source="Orphanet:329466/e", source="DOID:0090055", source="MONDO:equivalentTo", source="Orphanet:329466"} xref: Orphanet:329466 {source="DOID:0090055", source="MONDO:equivalentTo", source="OMIM:615073"} xref: UMLS:C3554447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615073"} is_a: MONDO:0000478 {source="DOID:0090055"} ! multifocal dystonia @@ -279544,8 +279405,8 @@ synonym: "MRD18" EXACT ABBREVIATION [DOID:0070048, MONDO:Lexical, OMIM:615074] synonym: "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0070048 {source="MONDO:equivalentTo"} xref: GARD:0012815 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:363686/attributed", source="ORDO:363686/ntbt", source="Orphanet:363686"} -xref: OMIM:615074 {source="ORDO:363686/e", source="MONDO:equivalentTo", source="DOID:0070048", source="Orphanet:363686"} +xref: ICD10CM:Q87.8 {source="Orphanet:363686", source="Orphanet:363686/attributed", source="Orphanet:363686/ntbt"} +xref: OMIM:615074 {source="MONDO:equivalentTo", source="DOID:0070048", source="Orphanet:363686", source="Orphanet:363686/e"} xref: Orphanet:363686 {source="MONDO:equivalentTo", source="OMIM:615074"} xref: UMLS:C3554448 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615074"} is_a: MONDO:0000508 {source="Orphanet:363686"} ! syndromic intellectual disability @@ -279576,8 +279437,8 @@ synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" synonym: "severe intellectual disability-progressive spastic diplegia syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0070049 {source="MONDO:equivalentTo"} xref: GARD:0003505 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="ORDO:404473/attributed", source="ORDO:404473/ntbt", source="Orphanet:404473"} -xref: OMIM:615075 {source="DOID:0070049", source="MONDO:equivalentTo", source="ORDO:404473/e", source="Orphanet:404473"} +xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:404473/attributed", source="Orphanet:404473/ntbt", source="Orphanet:404473"} +xref: OMIM:615075 {source="Orphanet:404473/e", source="DOID:0070049", source="MONDO:equivalentTo", source="Orphanet:404473"} xref: Orphanet:404473 {source="MONDO:equivalentTo", source="OMIM:615075"} xref: UMLS:C3554449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615075"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404473", source="indirect"} ! syndromic intellectual disability @@ -279619,7 +279480,7 @@ xref: DOID:0070180 {source="MONDO:equivalentTo"} xref: OMIM:615081 {source="MONDO:equivalentTo"} xref: UMLS:C3554453 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615081"} is_a: MONDO:0004983 {source="DC-OMIM:615081", source="MONDO:Redundant", source="OMIM:615081"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 ! KLHL10 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 {source="mim2gene_medgen"} ! KLHL10 @@ -279660,8 +279521,8 @@ synonym: "MTDPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615084] synonym: "PEO-myopathy-emaciation syndrome" EXACT [Orphanet:352447] synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [Orphanet:352447] xref: DOID:0080129 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:352447/attributed", source="ORDO:352447/ntbt", source="Orphanet:352447"} -xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="ORDO:352447/e", source="DOID:0080129"} +xref: ICD10CM:G71.3 {source="Orphanet:352447", source="Orphanet:352447/attributed", source="Orphanet:352447/ntbt"} +xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="DOID:0080129", source="Orphanet:352447/e"} xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"} xref: UMLS:C3554462 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615084"} is_a: MONDO:0018158 {source="DC-OMIM:615084", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome @@ -279688,7 +279549,7 @@ xref: OMIM:615085 {source="DOID:0110940", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:subClassOf", source="OMIM:615085"} xref: UMLS:C3554478 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615085"} is_a: MONDO:0017198 {source="DOID:0110940", source="MONDO:Redundant", source="NCIT:C150556/inferred", source="OMIM:615085", source="indirect"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="ORDO:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14974 ! SNX10 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14974 {source="mim2gene_medgen"} ! SNX10 @@ -279740,8 +279601,8 @@ synonym: "microcephalic primordial dwarfism, Walsh type" EXACT [Orphanet:329228] synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615095] synonym: "primary autosomal recessive microcephaly 10" RELATED [DOID:0070294] xref: DOID:0070294 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="Orphanet:329228", source="ORDO:329228/attributed", source="ORDO:329228/ntbt"} -xref: OMIM:615095 {source="Orphanet:329228", source="MONDO:equivalentTo", source="ORDO:329228/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:329228", source="Orphanet:329228/attributed", source="Orphanet:329228/ntbt"} +xref: OMIM:615095 {source="Orphanet:329228", source="MONDO:equivalentTo", source="Orphanet:329228/e"} xref: Orphanet:329228 {source="MONDO:equivalentTo", source="OMIM:615095"} xref: SCTID:724141003 {source="MONDO:equivalentTo"} xref: UMLS:C3554499 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615095"} @@ -279757,8 +279618,8 @@ name: dysmorphism-conductive hearing loss-heart defect syndrome def: "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." [OMIM:615102] subset: ordo_malformation_syndrome {source="Orphanet:289553"} synonym: "TYSHCHENKO syndrome" RELATED [OMIM:615102] -xref: ICD10CM:Q87.8 {source="Orphanet:289553", source="ORDO:289553/attributed", source="ORDO:289553/ntbt"} -xref: OMIM:615102 {source="ORDO:289553/e", source="Orphanet:289553", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:289553/attributed", source="Orphanet:289553/ntbt", source="Orphanet:289553"} +xref: OMIM:615102 {source="Orphanet:289553", source="MONDO:equivalentTo", source="Orphanet:289553/e"} xref: Orphanet:289553 {source="OMIM:615102", source="MONDO:equivalentTo"} xref: SCTID:763279007 {source="MONDO:equivalentTo"} xref: UMLS:C3554774 {source="OMIM:615102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279873,7 +279734,7 @@ xref: OMIM:615113 {source="MONDO:equivalentTo", source="DOID:0060841"} xref: Orphanet:2542 {source="MONDO:subClassOf", source="OMIM:615113", source="DOID:0060841"} xref: UMLS:C3554524 {source="OMIM:615113", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000062 {source="DC-OMIM:615113", source="MONDO:Redundant", source="OMIM:615113"} ! isolated microphthalmia -is_a: MONDO:0016764 {source="ORDO:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome +is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/409 ! ALDH1A3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/409 {source="mim2gene_medgen"} ! ALDH1A3 @@ -279922,8 +279783,8 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:615120"} xref: Orphanet:98914 {source="MONDO:subClassOf", source="OMIM:615120"} xref: UMLS:C3808739 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615120"} is_a: MONDO:0018940 {source="DOID:0110657", source="MONDO:Redundant", source="OMIM:615120", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome -is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/329 ! AGRN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/329 {source="mim2gene_medgen"} ! AGRN @@ -279957,7 +279818,7 @@ xref: ICD10CM:D47.9 {source="DOID:0060708"} xref: OMIM:615122 {source="DOID:0060708", source="MONDO:equivalentTo"} xref: Orphanet:238505 {source="MONDO:subClassOf", source="OMIM:615122"} xref: UMLS:C3554540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615122"} -is_a: MONDO:0016536 {source="ORDO:238505/btnt"} ! autosomal recessive lymphoproliferative disease +is_a: MONDO:0016536 {source="Orphanet:238505/btnt"} ! autosomal recessive lymphoproliferative disease is_a: MONDO:0016537 {source="DOID:0060708", source="MONDO:Redundant", source="OMIM:615122", source="indirect"} ! lymphoproliferative syndrome intersection_of: MONDO:0016537 ! lymphoproliferative syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11922 ! CD27 @@ -279976,7 +279837,7 @@ xref: OMIM:615127 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="MONDO:subClassOf", source="OMIM:615127"} xref: UMLS:C3554560 {source="OMIM:615127", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000160 {source="DC-OMIM:615127", source="OMIM:615127"} ! epilepsy, familial adult myoclonic -relationship: excluded_subClassOf MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy +relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt"} ! benign adult familial myoclonic epilepsy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.11978947957783914" xsd:double @@ -280010,7 +279871,7 @@ xref: Orphanet:268162 {source="MONDO:subClassOf", source="OMIM:615135"} xref: Orphanet:511 {source="MONDO:subClassOf", source="OMIM:615135"} xref: UMLS:C3554575 {source="OMIM:615135", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0009563 {source="MONDO:Redundant", source="OMIM:615135", source="indirect"} ! maple syrup urine disease -is_a: MONDO:0017052 {source="ORDO:268162/btnt"} ! intermediate maple syrup urine disease +is_a: MONDO:0017052 {source="Orphanet:268162/btnt"} ! intermediate maple syrup urine disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25415 {source="mim2gene_medgen"} ! PPM1K property_value: confidence "0.6200294550810015" xsd:double @@ -280022,8 +279883,8 @@ subset: ordo_disease {source="Orphanet:352712"} synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils syndrome" EXACT [Orphanet:352712] -xref: ICD10CM:Q87.1 {source="ORDO:352712/attributed", source="ORDO:352712/ntbt", source="Orphanet:352712"} -xref: OMIM:615139 {source="MONDO:equivalentTo", source="ORDO:352712/e", source="Orphanet:352712"} +xref: ICD10CM:Q87.1 {source="Orphanet:352712/attributed", source="Orphanet:352712/ntbt", source="Orphanet:352712"} +xref: OMIM:615139 {source="Orphanet:352712/e", source="MONDO:equivalentTo", source="Orphanet:352712"} xref: Orphanet:352712 {source="OMIM:615139", source="MONDO:equivalentTo"} xref: UMLS:C3554576 {source="NCBI:mim2gene_medline", source="OMIM:615139", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:615139"} ! Mendelian disease @@ -280043,7 +279904,7 @@ synonym: "TENM3 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pat xref: OMIM:615145 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:615145"} xref: UMLS:C3554592 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615145"} -is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:615145", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:615145", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29944 ! TENM3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29944 {source="mim2gene_medgen"} ! TENM3 @@ -280057,8 +279918,8 @@ subset: ordo_disease {source="Orphanet:352718"} synonym: "RDCCAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615147] synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical, OMIM:615147] synonym: "retinol dystrophy-iris coloboma-comedogenic acne syndrome" EXACT [Orphanet:352718] -xref: ICD10CM:H35.5 {source="Orphanet:352718", source="MONDO:directSiblingOf", source="ORDO:352718/attributed", source="ORDO:352718/ntbt"} -xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source="ORDO:352718/e"} +xref: ICD10CM:H35.5 {source="Orphanet:352718", source="Orphanet:352718/attributed", source="Orphanet:352718/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source="Orphanet:352718/e"} xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"} xref: UMLS:C3554593 {source="OMIM:615147", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017760 {source="Orphanet:352718"} ! disorder of other vitamins and cofactors metabolism and transport @@ -280075,8 +279936,8 @@ synonym: "bilateral hip and radial head dislocations-short stature-scoliosis-car synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [OMIM:615155] synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155] synonym: "STLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615155] -xref: ICD10CM:Q87.5 {source="Orphanet:438117", source="ORDO:438117/attributed", source="ORDO:438117/ntbt"} -xref: OMIM:615155 {source="Orphanet:438117", source="MONDO:equivalentTo", source="ORDO:438117/e"} +xref: ICD10CM:Q87.5 {source="Orphanet:438117", source="Orphanet:438117/attributed", source="Orphanet:438117/ntbt"} +xref: OMIM:615155 {source="Orphanet:438117", source="MONDO:equivalentTo", source="Orphanet:438117/e"} xref: Orphanet:438117 {source="MONDO:equivalentTo"} xref: UMLS:C3554594 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615155"} is_a: MONDO:0005381 {source="Orphanet:438117", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder @@ -280097,8 +279958,8 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:615156] synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [OMIM:615156] xref: DOID:0111519 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:352470/attributed", source="ORDO:352470/ntbt", source="Orphanet:352470"} -xref: OMIM:615156 {source="MONDO:equivalentTo", source="Orphanet:352470", source="ORDO:352470/e"} +xref: ICD10CM:G71.3 {source="Orphanet:352470/attributed", source="Orphanet:352470/ntbt", source="Orphanet:352470"} +xref: OMIM:615156 {source="Orphanet:352470/e", source="MONDO:equivalentTo", source="Orphanet:352470"} xref: Orphanet:352470 {source="MONDO:equivalentTo", source="OMIM:615156"} xref: UMLS:C3554599 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615156"} is_a: MONDO:0000090 {source="DC-OMIM:615156", source="OMIM:615156"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions @@ -280121,7 +279982,7 @@ xref: OMIM:615157 {source="DOID:0060351", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615157"} xref: UMLS:C3554605 {source="OMIM:615157", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615157", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0060351", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0060351", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26006 ! TTC19 @@ -280142,7 +280003,7 @@ xref: OMIM:615158 {source="DOID:0080112", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615158"} xref: UMLS:C3554606 {source="OMIM:615158", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615158", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080112", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080112", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12582 ! UQCRB @@ -280163,7 +280024,7 @@ xref: OMIM:615159 {source="MONDO:equivalentTo", source="DOID:0080113"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615159"} xref: UMLS:C3554607 {source="OMIM:615159", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615159", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080113", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080113", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29594 ! UQCRQ @@ -280184,7 +280045,7 @@ xref: OMIM:615160 {source="DOID:0080114", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615160"} xref: UMLS:C3554608 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615160"} is_a: MONDO:0000066 {source="DC-OMIM:615160", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080114", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080114", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12586 ! UQCRC2 @@ -280198,8 +280059,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:357175"} synonym: "intellectual disability, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:615162] synonym: "mental retardation, autosomal recessive 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] synonym: "MRT35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] -xref: ICD10CM:Q87.8 {source="ORDO:357175/attributed", source="ORDO:357175/ntbt", source="Orphanet:357175"} -xref: OMIM:615162 {source="MONDO:equivalentTo", source="ORDO:357175/e", source="Orphanet:357175"} +xref: ICD10CM:Q87.8 {source="Orphanet:357175/attributed", source="Orphanet:357175/ntbt", source="Orphanet:357175"} +xref: OMIM:615162 {source="Orphanet:357175/e", source="MONDO:equivalentTo", source="Orphanet:357175"} xref: Orphanet:357175 {source="MONDO:equivalentTo", source="OMIM:615162"} xref: UMLS:C3554609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615162"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357175", source="indirect"} ! syndromic intellectual disability @@ -280227,8 +280088,8 @@ synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELAT synonym: "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" EXACT [Orphanet:357332] synonym: "WAHAB syndrome" RELATED [OMIM:615170] synonym: "Wahab syndrome" EXACT [Orphanet:357332] -xref: ICD10CM:Q87.2 {source="ORDO:357332/attributed", source="ORDO:357332/ntbt", source="Orphanet:357332"} -xref: OMIM:615170 {source="MONDO:equivalentTo", source="Orphanet:357332", source="ORDO:357332/e"} +xref: ICD10CM:Q87.2 {source="Orphanet:357332/attributed", source="Orphanet:357332/ntbt", source="Orphanet:357332"} +xref: OMIM:615170 {source="Orphanet:357332/e", source="MONDO:equivalentTo", source="Orphanet:357332"} xref: Orphanet:357332 {source="MONDO:equivalentTo", source="OMIM:615170"} xref: UMLS:C3554611 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615170"} is_a: MONDO:0019054 {source="Orphanet:357332"} ! congenital limb malformation @@ -280246,8 +280107,8 @@ synonym: "OCA7" EXACT ABBREVIATION [DOID:0070100, MONDO:Lexical, OMIM:615179, Or synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100] xref: DOID:0070100 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:352745/attributed", source="ORDO:352745/ntbt", source="Orphanet:352745"} -xref: OMIM:615179 {source="DOID:0070100", source="MONDO:equivalentTo", source="ORDO:352745/e", source="Orphanet:352745"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:352745/attributed", source="Orphanet:352745/ntbt", source="Orphanet:352745"} +xref: OMIM:615179 {source="Orphanet:352745/e", source="DOID:0070100", source="MONDO:equivalentTo", source="Orphanet:352745"} xref: Orphanet:352745 {source="OMIM:615179", source="MONDO:equivalentTo"} xref: SCTID:722059002 {source="MONDO:equivalentTo"} xref: UMLS:C3808786 {source="OMIM:615179", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280274,7 +280135,7 @@ xref: OMIM:615181 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="MONDO:subClassOf", source="OMIM:615181"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615181"} xref: UMLS:C3554638 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615181"} -is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615181", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615181", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28596 ! B3GALNT2 @@ -280295,9 +280156,9 @@ synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] synonym: "D,L-2-hydroxyglutaric aciduria" EXACT CLINGEN_PREFERRED [] synonym: "D2L2AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615182] xref: DOID:0111619 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="ORDO:356978/attributed", source="ORDO:356978/ntbt", source="Orphanet:356978"} +xref: ICD10CM:E72.8 {source="Orphanet:356978", source="Orphanet:356978/attributed", source="Orphanet:356978/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:615182 {source="MONDO:equivalentTo", source="ORDO:356978/e", source="Orphanet:356978"} +xref: OMIM:615182 {source="MONDO:equivalentTo", source="Orphanet:356978", source="Orphanet:356978/e"} xref: Orphanet:356978 {source="MONDO:equivalentTo", source="OMIM:615182"} xref: SCTID:713401006 {source="MONDO:equivalentTo"} xref: UMLS:C2746066 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:615182"} @@ -280342,8 +280203,8 @@ synonym: "DI-CMTF" RELATED [GARD:0009206] synonym: "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009206] xref: DOID:0110206 {source="MONDO:equivalentTo"} xref: GARD:0009206 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:352670", source="DOID:0110206", source="ORDO:352670/attributed", source="ORDO:352670/ntbt"} -xref: OMIM:615185 {source="Orphanet:352670", source="ORDO:352670/e", source="DOID:0110206", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:352670", source="DOID:0110206", source="Orphanet:352670/attributed", source="Orphanet:352670/ntbt"} +xref: OMIM:615185 {source="Orphanet:352670", source="DOID:0110206", source="MONDO:equivalentTo", source="Orphanet:352670/e"} xref: Orphanet:352670 {source="DOID:0110206", source="MONDO:equivalentTo", source="OMIM:615185"} xref: UMLS:C3554654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615185"} is_a: MONDO:0019548 {source="Orphanet:352670"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease @@ -280369,7 +280230,7 @@ xref: Orphanet:98994 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615188"} xref: UMLS:C3808800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615188"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110236", source="MONDO:Redundant", source="OMIM:615188", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2409 ! CRYGB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2409 {source="mim2gene_medgen"} ! CRYGB @@ -280414,8 +280275,8 @@ synonym: "lissencephaly 5" RELATED [MONDO:Lexical, OMIM:615191] synonym: "lissencephaly type 2 without muscular or eye involvement" EXACT [Orphanet:352682] synonym: "lissencephaly type 2 without muscular or ocular involvement" EXACT [Orphanet:352682] synonym: "lissencephaly type 5" EXACT [MONDORULE:1, OMIM:615191] -xref: ICD10CM:Q04.3 {source="Orphanet:352682", source="ORDO:352682/attributed", source="ORDO:352682/ntbt"} -xref: OMIM:615191 {source="ORDO:352682/e", source="Orphanet:352682", source="MONDO:equivalentTo"} +xref: ICD10CM:Q04.3 {source="Orphanet:352682/attributed", source="Orphanet:352682/ntbt", source="Orphanet:352682"} +xref: OMIM:615191 {source="Orphanet:352682", source="MONDO:equivalentTo", source="Orphanet:352682/e"} xref: Orphanet:352682 {source="MONDO:equivalentTo", source="OMIM:615191"} xref: UMLS:C3554657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615191"} is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:615191", source="Orphanet:352682/inferred"} ! lissencephaly spectrum disorders @@ -280439,7 +280300,7 @@ xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"} xref: Orphanet:140957 {source="MONDO:subClassOf", source="OMIM:615193"} xref: UMLS:C3554663 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615193"} is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:615193", source="indirect"} ! inherited bleeding disorder, platelet-type -is_a: MONDO:0015372 {source="ORDO:140957/btnt"} ! autosomal dominant macrothrombocytopenia +is_a: MONDO:0015372 {source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/163 ! ACTN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/163 {source="mim2gene_medgen"} ! ACTN1 @@ -280482,8 +280343,8 @@ synonym: "immunodeficiency 11" RELATED [MONDO:Lexical, OMIM:615206] synonym: "immunodeficiency 11A" EXACT [OMIM:615206, OMIM:genemap2] synonym: "immunodeficiency type 11" EXACT [MONDORULE:2, OMIM:615206] synonym: "SCID due to CARD11 deficiency" EXACT [Orphanet:357237] -xref: ICD10CM:D81.2 {source="Orphanet:357237", source="ORDO:357237/attributed", source="ORDO:357237/ntbt"} -xref: OMIM:615206 {source="Orphanet:357237", source="ORDO:357237/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D81.2 {source="Orphanet:357237", source="Orphanet:357237/attributed", source="Orphanet:357237/ntbt"} +xref: OMIM:615206 {source="Orphanet:357237", source="MONDO:equivalentTo", source="Orphanet:357237/e"} xref: Orphanet:357237 {source="OMIM:615206", source="MONDO:equivalentTo"} xref: UMLS:C3554686 {source="OMIM:615206", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0044201 {source="Orphanet:357237"} ! T+ B+ severe combined immunodeficiency @@ -280499,8 +280360,8 @@ synonym: "cryptosporidiosis-chronic cholangitis-liver disease syndrome" EXACT CL synonym: "IL21R immunodeficiency" RELATED [OMIM:615207] synonym: "IMD56" RELATED ABBREVIATION [OMIM:615207] synonym: "immunodeficiency 56" RELATED [OMIM:615207] -xref: ICD10CM:D81.8 {source="ORDO:357329/attributed", source="ORDO:357329/ntbt", source="Orphanet:357329"} -xref: OMIM:615207 {source="MONDO:equivalentTo", source="Orphanet:357329", source="ORDO:357329/e"} +xref: ICD10CM:D81.8 {source="Orphanet:357329", source="Orphanet:357329/attributed", source="Orphanet:357329/ntbt"} +xref: OMIM:615207 {source="MONDO:equivalentTo", source="Orphanet:357329", source="Orphanet:357329/e"} xref: Orphanet:357329 {source="MONDO:equivalentTo", source="OMIM:615207"} xref: UMLS:C3554687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615207"} is_a: MONDO:0018814 {source="Orphanet:357329"} ! non-SCID combined immunodeficiency @@ -280520,7 +280381,7 @@ xref: OMIM:615214 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:615214"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:615214"} xref: UMLS:C3554689 {source="OMIM:615214", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:615214", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8979 ! PIK3R1 @@ -280540,7 +280401,7 @@ xref: OMIM:615217 {source="MONDO:equivalentTo", source="DOID:0060557"} xref: UMLS:C3554690 {source="OMIM:615217", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="DOID:0050950", source="https://github.com/monarch-initiative/mondo/issues/48"} ! autosomal recessive cerebellar ataxia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30035 {source="mim2gene_medgen"} ! PIK3R5 -relationship: excluded_subClassOf MONDO:0018996 {source="ORDO:64753/btnt"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +relationship: excluded_subClassOf MONDO:0018996 {source="Orphanet:64753/btnt"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 property_value: confidence "1.1064814814814814" xsd:double [Term] @@ -280556,7 +280417,7 @@ synonym: "MPDZ congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patt xref: OMIM:615219 {source="MONDO:equivalentTo"} xref: Orphanet:2185 {source="MONDO:subClassOf", source="OMIM:615219"} xref: UMLS:C3554691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615219"} -is_a: MONDO:0016349 {source="MONDO:Redundant", source="ORDO:2185/btnt"} ! congenital hydrocephalus +is_a: MONDO:0016349 {source="MONDO:Redundant", source="Orphanet:2185/btnt"} ! congenital hydrocephalus intersection_of: MONDO:0016349 ! congenital hydrocephalus intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7208 ! MPDZ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7208 {source="mim2gene_medgen"} ! MPDZ @@ -280638,8 +280499,8 @@ synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerl synonym: "MSPC" EXACT ABBREVIATION [OMIM:616964] synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:616964] synonym: "palmoplantar carcinoma, multiple self-healing; MSPC" EXACT [] -xref: ICD10CM:Q82.8 {source="Orphanet:352662", source="ORDO:352662/attributed", source="ORDO:352662/ntbt"} -xref: OMIM:615225 {source="ORDO:352662/e", source="Orphanet:352662", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: ICD10CM:Q82.8 {source="Orphanet:352662/attributed", source="Orphanet:352662/ntbt", source="Orphanet:352662"} +xref: OMIM:615225 {source="Orphanet:352662", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:352662/e"} xref: OMIM:616964 {source="MONDO:equivalentTo"} xref: OMIM:617388 {source="Orphanet:352662", source="MONDO:directSiblingOf"} xref: Orphanet:352662 {source="OMIM:615225", source="MONDO:equivalentTo"} @@ -280658,7 +280519,7 @@ synonym: "polydactyly, postaxial, type A6" EXACT CLINGEN_PREFERRED [MONDO:Lexica xref: OMIM:615226 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="MONDO:subClassOf", source="OMIM:615226"} xref: UMLS:C3808889 {source="OMIM:615226", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019673 {source="ORDO:93334/btnt"} ! postaxial polydactyly type A +is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12926 {source="mim2gene_medgen"} ! ZNF141 property_value: confidence "0.7021276595744683" xsd:double @@ -280678,7 +280539,7 @@ xref: OMIM:615228 {source="DOID:0060333", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="MONDO:subClassOf", source="OMIM:615228", source="DOID:0060333"} xref: UMLS:C3808899 {source="OMIM:615228", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615228", source="MONDO:Redundant"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="DOID:0060333", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0060333", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0000066 ! mitochondrial complex deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/823 ! ATP5F1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/823 {source="mim2gene_medgen"} ! ATP5F1A @@ -280734,8 +280595,8 @@ synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234] synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298] -xref: ICD10CM:D64.0 {source="Orphanet:300298", source="ORDO:300298/attributed", source="ORDO:300298/ntbt"} -xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="ORDO:300298/e"} +xref: ICD10CM:D64.0 {source="Orphanet:300298", source="Orphanet:300298/attributed", source="Orphanet:300298/ntbt"} +xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="Orphanet:300298/e"} xref: Orphanet:300298 {source="OMIM:615234", source="MONDO:equivalentTo"} xref: SCTID:725463007 {source="MONDO:equivalentTo"} xref: UMLS:C3808920 {source="OMIM:615234", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280779,8 +280640,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:137658"} synonym: "WOODS syndrome" RELATED [OMIM:615236] synonym: "Woods-Crouchman-Huson syndrome" EXACT [Orphanet:137658] xref: GARD:0003498 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:137658/attributed", source="ORDO:137658/ntbt", source="Orphanet:137658"} -xref: OMIM:615236 {source="ORDO:137658/e", source="MONDO:equivalentTo", source="Orphanet:137658"} +xref: ICD10CM:Q87.8 {source="Orphanet:137658", source="Orphanet:137658/attributed", source="Orphanet:137658/ntbt"} +xref: OMIM:615236 {source="MONDO:equivalentTo", source="Orphanet:137658", source="Orphanet:137658/e"} xref: Orphanet:137658 {source="OMIM:615236", source="MONDO:equivalentObsolete"} xref: SCTID:719396000 {source="MONDO:equivalentTo"} xref: UMLS:C0796203 {source="OMIM:615236", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280798,9 +280659,9 @@ def: "Congenital short bowel syndrome is a rare intestinal disorder of neonates subset: ordo_morphological_anomaly {source="Orphanet:2301"} synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, OMIM:615237] synonym: "CSBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615237] -xref: ICD10CM:Q43.8 {source="Orphanet:2301", source="ORDO:2301/attributed", source="ORDO:2301/ntbt"} -xref: OMIM:300048 {source="Orphanet:2301", source="MONDO:superClassOf", source="ORDO:2301/btnt"} -xref: OMIM:615237 {source="ORDO:2301/e", source="Orphanet:2301", source="MONDO:superClassOf"} +xref: ICD10CM:Q43.8 {source="Orphanet:2301/attributed", source="Orphanet:2301/ntbt", source="Orphanet:2301"} +xref: OMIM:300048 {source="Orphanet:2301/btnt", source="Orphanet:2301", source="MONDO:superClassOf"} +xref: OMIM:615237 {source="Orphanet:2301", source="MONDO:superClassOf", source="Orphanet:2301/e"} xref: Orphanet:2301 {source="OMIM:615237", source="MONDO:equivalentTo"} xref: SCTID:715201005 {source="MONDO:equivalentTo"} xref: UMLS:C0021847 {source="OMIM:615237", source="NCBI:mim2gene_medline"} @@ -280818,8 +280679,8 @@ synonym: "lipodystrophy, familial partial, associated with Cidec mutations" RELA synonym: "lipodystrophy, familial partial, type 5" RELATED [MONDO:Lexical, OMIM:615238] xref: DOID:0070203 {source="MONDO:equivalentTo"} xref: GARD:0013125 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.1 {source="ORDO:435651/attributed", source="ORDO:435651/ntbt", source="Orphanet:435651"} -xref: OMIM:615238 {source="MONDO:equivalentTo", source="ORDO:435651/e", source="Orphanet:435651"} +xref: ICD10CM:E88.1 {source="Orphanet:435651/attributed", source="Orphanet:435651/ntbt", source="Orphanet:435651"} +xref: OMIM:615238 {source="Orphanet:435651/e", source="MONDO:equivalentTo", source="Orphanet:435651"} xref: Orphanet:435651 {source="MONDO:equivalentTo"} xref: UMLS:C3808940 {source="NCBI:mim2gene_medline", source="OMIM:615238", source="MONDO:equivalentTo"} is_a: MONDO:0020088 {source="DC-OMIM:615238", source="OMIM:615238", source="Orphanet:435651"} ! familial partial lipodystrophy @@ -280891,7 +280752,7 @@ xref: DOID:0111235 {source="MONDO:equivalentTo"} xref: OMIM:615249 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615249"} xref: UMLS:C3808964 {source="NCBI:mim2gene_medline", source="OMIM:615249", source="MONDO:equivalentTo"} -is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615249", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615249", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26267 ! POMK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26267 {source="mim2gene_medgen"} ! POMK @@ -280913,7 +280774,7 @@ xref: OMIM:615266 {source="MONDO:equivalentTo", source="DOID:0090079"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:615266"} xref: UMLS:C3808971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615266"} is_a: MONDO:0018555 {source="DOID:0090079", source="MONDO:Redundant", source="OMIM:615266", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15533 ! SPRY4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15533 {source="mim2gene_medgen"} ! SPRY4 @@ -280934,7 +280795,7 @@ xref: OMIM:615267 {source="DOID:0090076", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:615267"} xref: UMLS:C3808975 {source="OMIM:615267", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="DOID:0090076", source="MONDO:Redundant", source="OMIM:615267", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17616 ! IL17RD relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17616 {source="mim2gene_medgen"} ! IL17RD @@ -280957,7 +280818,7 @@ synonym: "dysequilibrium syndrome caused by mutation in ATP8A2" EXACT [MONDO:des xref: OMIM:615268 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:subClassOf", source="OMIM:615268"} xref: UMLS:C3808977 {source="OMIM:615268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:615268", source="ORDO:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium +is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:615268", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13533 ! ATP8A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13533 {source="mim2gene_medgen"} ! ATP8A2 @@ -280976,7 +280837,7 @@ xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090090"} xref: OMIM:615269 {source="MONDO:equivalentTo", source="DOID:0090090"} xref: UMLS:C3808981 {source="OMIM:615269", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="DOID:0090090", source="MONDO:Redundant", source="OMIM:615269", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3072 ! DUSP6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3072 {source="mim2gene_medgen"} ! DUSP6 @@ -280995,7 +280856,7 @@ xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090082"} xref: OMIM:615270 {source="MONDO:equivalentTo", source="DOID:0090082"} xref: UMLS:C3808983 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615270"} is_a: MONDO:0018555 {source="DOID:0090082", source="MONDO:Redundant", source="OMIM:615270", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3673 ! FGF17 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3673 {source="mim2gene_medgen"} ! FGF17 @@ -281016,7 +280877,7 @@ xref: OMIM:615271 {source="MONDO:equivalentTo", source="DOID:0090093"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:615271"} xref: UMLS:C3808986 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615271"} is_a: MONDO:0018555 {source="DOID:0090093", source="MONDO:Redundant", source="OMIM:615271", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3762 ! FLRT3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3762 {source="mim2gene_medgen"} ! FLRT3 @@ -281065,9 +280926,9 @@ synonym: "NGLY1-CDDG" EXACT [DOID:0060728, Orphanet:404454] synonym: "NGLY1-deficiency" EXACT CLINGEN_PREFERRED [] xref: DOID:0060728 {source="MONDO:equivalentTo"} xref: GARD:0012315 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="Orphanet:404454", source="ORDO:404454/attributed", source="ORDO:404454/ntbt", source="DOID:0060728"} +xref: ICD10CM:E77.8 {source="Orphanet:404454/attributed", source="Orphanet:404454/ntbt", source="Orphanet:404454", source="DOID:0060728"} xref: NCIT:C126746 {source="MONDO:equivalentTo"} -xref: OMIM:615273 {source="MONDO:equivalentTo", source="Orphanet:404454", source="ORDO:404454/e", source="DOID:0060728"} +xref: OMIM:615273 {source="Orphanet:404454/e", source="MONDO:equivalentTo", source="Orphanet:404454", source="DOID:0060728"} xref: Orphanet:404454 {source="MONDO:equivalentTo", source="OMIM:615273", source="DOID:0060728"} xref: SCTID:768846004 {source="MONDO:equivalentTo"} xref: UMLS:C3808991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615273", source="NCIT:C126746"} @@ -281100,7 +280961,7 @@ xref: Orphanet:98994 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615274"} xref: UMLS:C3809001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615274"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110251", source="MONDO:Redundant", source="OMIM:615274", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7103 ! MIP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7103 {source="mim2gene_medgen"} ! MIP @@ -281123,7 +280984,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:615277"} xref: Orphanet:98984 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", source="OMIM:615277"} xref: UMLS:C3809004 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615277"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110263", source="MONDO:Redundant", source="OMIM:615277", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6610 ! LIM2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6610 {source="mim2gene_medgen"} ! LIM2 @@ -281195,8 +281056,8 @@ subset: ordo_disease {source="Orphanet:363412"} synonym: "aspartyl-tRNA synthetase deficiency" RELATED [OMIM:615281] synonym: "HBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615281, Orphanet:363412] synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical, OMIM:615281] -xref: ICD10CM:E75.2 {source="ORDO:363412/attributed", source="ORDO:363412/ntbt", source="Orphanet:363412"} -xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source="ORDO:363412/e"} +xref: ICD10CM:E75.2 {source="Orphanet:363412", source="Orphanet:363412/attributed", source="Orphanet:363412/ntbt"} +xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source="Orphanet:363412/e"} xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"} xref: UMLS:C3809008 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615281"} is_a: MONDO:0019046 {source="Orphanet:363412"} ! leukodystrophy @@ -281233,8 +281094,8 @@ synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:61 synonym: "CMT4B3" EXACT ABBREVIATION [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981] synonym: "SBF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110194 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:363981", source="DOID:0110194", source="ORDO:363981/attributed", source="ORDO:363981/ntbt"} -xref: OMIM:615284 {source="ORDO:363981/e", source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:363981/attributed", source="Orphanet:363981/ntbt", source="Orphanet:363981", source="DOID:0110194"} +xref: OMIM:615284 {source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo", source="Orphanet:363981/e"} xref: Orphanet:363981 {source="DOID:0110194", source="MONDO:equivalentTo", source="OMIM:615284"} xref: SCTID:763345008 {source="MONDO:equivalentTo"} xref: UMLS:C3695063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615284"} @@ -281253,8 +281114,8 @@ synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXA synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615285] synonym: "SCN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615285] synonym: "vps45 deficiency" EXACT [Orphanet:369852] -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:369852", source="ORDO:369852/attributed", source="ORDO:369852/ntbt"} -xref: OMIM:615285 {source="Orphanet:369852", source="ORDO:369852/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:369852", source="Orphanet:369852/attributed", source="Orphanet:369852/ntbt"} +xref: OMIM:615285 {source="Orphanet:369852", source="MONDO:equivalentTo", source="Orphanet:369852/e"} xref: Orphanet:369852 {source="MONDO:equivalentTo", source="OMIM:615285"} xref: UMLS:C3809031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615285"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia @@ -281278,8 +281139,8 @@ synonym: "mental retardation, autosomal recessive 36" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:615286] synonym: "MRT36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286] synonym: "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" EXACT [OMIM:615286, OMIM:genemap2] -xref: ICD10CM:H50.8 {source="Orphanet:363528", source="ORDO:363528/attributed", source="ORDO:363528/ntbt"} -xref: OMIM:615286 {source="MONDO:equivalentTo", source="Orphanet:363528", source="ORDO:363528/e"} +xref: ICD10CM:H50.8 {source="Orphanet:363528/attributed", source="Orphanet:363528/ntbt", source="Orphanet:363528"} +xref: OMIM:615286 {source="Orphanet:363528/e", source="MONDO:equivalentTo", source="Orphanet:363528"} xref: Orphanet:363528 {source="MONDO:equivalentTo", source="OMIM:615286"} xref: UMLS:C3809039 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615286"} is_a: MONDO:0000508 {source="Orphanet:363528"} ! syndromic intellectual disability @@ -281300,7 +281161,7 @@ xref: DOID:0111238 {source="MONDO:equivalentTo"} xref: OMIM:615287 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615287"} xref: UMLS:C3809042 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615287"} -is_a: MONDO:0000171 {source="OMIM:615287", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="OMIM:615287", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15685 {source="mim2gene_medgen"} ! B4GAT1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -281317,8 +281178,8 @@ synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal domi synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:615290] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [OMIM:615290, OMIM:genemap2] xref: GARD:0013222 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G12.1 {source="Orphanet:363454", source="ORDO:363454/attributed", source="ORDO:363454/ntbt"} -xref: OMIM:615290 {source="Orphanet:363454", source="ORDO:363454/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G12.1 {source="Orphanet:363454/attributed", source="Orphanet:363454/ntbt", source="Orphanet:363454"} +xref: OMIM:615290 {source="Orphanet:363454", source="MONDO:equivalentTo", source="Orphanet:363454/e"} xref: Orphanet:363447 {source="MONDO:subClassOf", source="OMIM:615290"} xref: Orphanet:363454 {source="MONDO:equivalentTo", source="OMIM:615290"} xref: UMLS:C3809049 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:615290"} @@ -281381,7 +281242,7 @@ synonym: "EOGT Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:pattern xref: OMIM:615297 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:subClassOf", source="OMIM:615297"} xref: UMLS:C3809092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615297"} -is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:615297", source="ORDO:974/btnt"} ! Adams-Oliver syndrome +is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:615297", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome intersection_of: MONDO:0007034 ! Adams-Oliver syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28526 ! EOGT relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28526 {source="mim2gene_medgen"} ! EOGT @@ -281399,7 +281260,7 @@ synonym: "symphalangism, proximal, type 1B" EXACT [MONDORULE:4, OMIM:615298] xref: OMIM:615298 {source="MONDO:equivalentTo"} xref: Orphanet:3250 {source="MONDO:subClassOf", source="OMIM:615298"} xref: UMLS:C3809104 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615298"} -is_a: MONDO:0008511 {source="MONDO:Redundant", source="OMIM:615298", source="ORDO:3250/btnt"} ! proximal symphalangism +is_a: MONDO:0008511 {source="MONDO:Redundant", source="OMIM:615298", source="Orphanet:3250/btnt"} ! proximal symphalangism intersection_of: MONDO:0008511 ! proximal symphalangism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4220 ! GDF5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4220 {source="mim2gene_medgen"} ! GDF5 @@ -281433,8 +281294,8 @@ synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical, OMIM:615312] synonym: "OCA5" EXACT ABBREVIATION [DOID:0070099, MONDO:Lexical, OMIM:615312, Orphanet:370091] synonym: "oculocutaneous albinism type V" RELATED [DOID:0070099] xref: DOID:0070099 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:370091/attributed", source="ORDO:370091/ntbt", source="Orphanet:370091"} -xref: OMIM:615312 {source="DOID:0070099", source="MONDO:equivalentTo", source="ORDO:370091/e", source="Orphanet:370091"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:370091/attributed", source="Orphanet:370091/ntbt", source="Orphanet:370091"} +xref: OMIM:615312 {source="DOID:0070099", source="Orphanet:370091/e", source="MONDO:equivalentTo", source="Orphanet:370091"} xref: Orphanet:370091 {source="OMIM:615312", source="MONDO:equivalentTo"} xref: SCTID:722057000 {source="MONDO:equivalentTo"} xref: UMLS:C3809110 {source="OMIM:615312", source="MONDO:notFoundInDiseaseSubset"} @@ -281458,8 +281319,8 @@ xref: Orphanet:35098 {source="MONDO:subClassOf", source="OMIM:615314"} xref: Orphanet:35099 {source="MONDO:subClassOf", source="OMIM:615314"} xref: UMLS:C3715051 {source="OMIM:615314", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:615314", source="indirect"} ! craniosynostosis -is_a: MONDO:0018113 {source="ORDO:35098/btnt"} ! isolated plagiocephaly -is_a: MONDO:0018114 {source="ORDO:35099/btnt"} ! isolated brachycephaly +is_a: MONDO:0018113 {source="Orphanet:35098/btnt"} ! isolated plagiocephaly +is_a: MONDO:0018114 {source="Orphanet:35099/btnt"} ! isolated brachycephaly intersection_of: MONDO:0015469 ! craniosynostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11623 ! TCF12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11623 {source="mim2gene_medgen"} ! TCF12 @@ -281479,8 +281340,8 @@ synonym: "DES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:d synonym: "LGMD2R" EXACT ABBREVIATION [DOID:0110286, MONDO:Lexical, OMIM:615325, Orphanet:363543] synonym: "muscular dystrophy, limb-girdle, type 2R" EXACT [DOID:0110286, MONDO:Lexical, OMIM:615325] xref: DOID:0110286 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:363543/attributed", source="ORDO:363543/ntbt", source="Orphanet:363543", source="DOID:0110286"} -xref: OMIM:615325 {source="ORDO:363543/e", source="MONDO:equivalentTo", source="Orphanet:363543", source="DOID:0110286"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:363543", source="DOID:0110286", source="Orphanet:363543/attributed", source="Orphanet:363543/ntbt"} +xref: OMIM:615325 {source="MONDO:equivalentTo", source="Orphanet:363543", source="DOID:0110286", source="Orphanet:363543/e"} xref: Orphanet:363543 {source="OMIM:615325", source="MONDO:equivalentTo", source="DOID:0110286"} xref: UMLS:C3809137 {source="OMIM:615325", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="DOID:0110286", source="MONDO:Redundant", source="OMIM:615325", source="Orphanet:363543"} ! autosomal recessive limb-girdle muscular dystrophy @@ -281505,7 +281366,7 @@ xref: OMIM:615327 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="MONDO:subClassOf", source="OMIM:615327"} xref: UMLS:C3809147 {source="OMIM:615327", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615327", source="indirect"} ! reticulate pigment disorder -is_a: MONDO:0008371 {source="MONDO:Redundant", source="ORDO:79145/btnt"} ! Dowling-Degos disease +is_a: MONDO:0008371 {source="MONDO:Redundant", source="Orphanet:79145/btnt"} ! Dowling-Degos disease intersection_of: MONDO:0008371 ! Dowling-Degos disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14988 ! POFUT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14988 {source="mim2gene_medgen"} ! POFUT1 @@ -281517,8 +281378,8 @@ name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disab subset: ordo_disease {source="Orphanet:363523"} synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical, OMIM:615328] synonym: "SHNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615328] -xref: ICD10CM:Q82.8 {source="ORDO:363523/attributed", source="ORDO:363523/ntbt", source="Orphanet:363523"} -xref: OMIM:615328 {source="MONDO:equivalentTo", source="ORDO:363523/e", source="Orphanet:363523"} +xref: ICD10CM:Q82.8 {source="Orphanet:363523", source="Orphanet:363523/attributed", source="Orphanet:363523/ntbt"} +xref: OMIM:615328 {source="MONDO:equivalentTo", source="Orphanet:363523", source="Orphanet:363523/e"} xref: Orphanet:363523 {source="MONDO:equivalentTo", source="OMIM:615328"} xref: UMLS:C3809160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615328"} is_a: MONDO:0000001 {source="MONDO:0020014-obsoleted"} ! disease or disorder @@ -281541,8 +281402,8 @@ synonym: "MMDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [DOID:0080135, MONDORULE:1, OMIM:615330] xref: DOID:0080135 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:363424/attributed", source="ORDO:363424/ntbt", source="Orphanet:363424"} -xref: OMIM:615330 {source="MONDO:equivalentTo", source="ORDO:363424/e", source="DOID:0080135", source="Orphanet:363424"} +xref: ICD10CM:G31.8 {source="Orphanet:363424", source="Orphanet:363424/attributed", source="Orphanet:363424/ntbt"} +xref: OMIM:615330 {source="MONDO:equivalentTo", source="DOID:0080135", source="Orphanet:363424", source="Orphanet:363424/e"} xref: Orphanet:289573 {source="MONDO:subClassOf", source="OMIM:615330"} xref: Orphanet:363424 {source="MONDO:equivalentTo", source="OMIM:615330"} xref: UMLS:C3809165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615330"} @@ -281565,7 +281426,7 @@ xref: OMIM:615338 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="MONDO:subClassOf", source="OMIM:615338"} xref: Orphanet:352596 {source="MONDO:relatedTo", source="OMIM:615338", source="MONDO:superClassOf"} xref: UMLS:C3809173 {source="OMIM:615338", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy +is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy is_a: MONDO:0100062 {source="DC-OMIM:615338", source="OMIM:615338"} ! developmental and epileptic encephalopathy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "6.200000000000001" xsd:double @@ -281637,7 +281498,7 @@ synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1, OMIM:615346] xref: OMIM:615346 {source="MONDO:equivalentTo"} xref: Orphanet:759 {source="MONDO:subClassOf", source="OMIM:615346"} xref: UMLS:C3809199 {source="OMIM:615346", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019165 {source="MONDO:Redundant", source="ORDO:759/btnt"} ! central precocious puberty +is_a: MONDO:0019165 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7114 ! MKRN3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7114 {source="mim2gene_medgen"} ! MKRN3 @@ -281659,7 +281520,7 @@ xref: OMIM:615348 {source="DOID:0110930", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:615348"} xref: UMLS:C3809209 {source="NCIT:C129871", source="NCBI:mim2gene_medline", source="OMIM:615348", source="MONDO:equivalentTo"} is_a: MONDO:0005336 {source="DOID:0110930/inferred", source="MONDO:Redundant", source="NCIT:C129871", source="indirect"} ! myopathy -is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy +is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110930", source="MONDO:Redundant", source="OMIM:615348", source="indirect"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30372 ! KLHL40 @@ -281680,7 +281541,7 @@ synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 2" EXACT [OMIM:615349 xref: OMIM:615349 {source="MONDO:equivalentTo"} xref: Orphanet:75496 {source="MONDO:subClassOf", source="OMIM:615349"} xref: UMLS:C3809210 {source="OMIM:615349", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007526 {source="MONDO:Redundant", source="ORDO:75496/btnt"} ! Ehlers-Danlos syndrome, spondylodysplastic type +is_a: MONDO:0007526 {source="MONDO:Redundant", source="Orphanet:75496/btnt"} ! Ehlers-Danlos syndrome, spondylodysplastic type intersection_of: MONDO:0007526 ! Ehlers-Danlos syndrome, spondylodysplastic type intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17978 ! B3GALT6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17978 {source="mim2gene_medgen"} ! B3GALT6 @@ -281743,8 +281604,8 @@ synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" REL xref: DOID:0110294 {source="MONDO:equivalentTo"} xref: GARD:0012544 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110294"} -xref: ICD10CM:G71.2 {source="ORDO:363623/attributed", source="ORDO:363623/ntbt", source="Orphanet:363623"} -xref: OMIM:615352 {source="MONDO:equivalentTo", source="Orphanet:363623", source="DOID:0110294", source="ORDO:363623/e"} +xref: ICD10CM:G71.2 {source="Orphanet:363623", source="Orphanet:363623/attributed", source="Orphanet:363623/ntbt"} +xref: OMIM:615352 {source="MONDO:equivalentTo", source="Orphanet:363623", source="DOID:0110294", source="Orphanet:363623/e"} xref: Orphanet:363623 {source="MONDO:equivalentTo", source="DOID:0110294", source="OMIM:615352"} xref: UMLS:C3714932 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615352"} is_a: MONDO:0000173 {source="DC-OMIM:615352", source="OMIM:615352"} ! muscular dystrophy-dystroglycanopathy, type C @@ -281791,8 +281652,8 @@ synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:L synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110287 {source="MONDO:equivalentTo"} xref: GARD:0012543 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:369840", source="DOID:0110287", source="ORDO:369840/attributed", source="ORDO:369840/ntbt"} -xref: OMIM:615356 {source="Orphanet:369840", source="MONDO:equivalentTo", source="DOID:0110287", source="ORDO:369840/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:369840", source="Orphanet:369840/attributed", source="Orphanet:369840/ntbt", source="DOID:0110287"} +xref: OMIM:615356 {source="Orphanet:369840", source="MONDO:equivalentTo", source="Orphanet:369840/e", source="DOID:0110287"} xref: Orphanet:369840 {source="OMIM:615356", source="MONDO:equivalentTo", source="DOID:0110287"} xref: Orphanet:369847 {source="MONDO:subClassOf", source="OMIM:615356"} xref: UMLS:C3809236 {source="OMIM:615356", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} @@ -281856,8 +281717,8 @@ synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2] xref: DOID:0110727 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:352709", source="DOID:0110727", source="ORDO:352709/attributed", source="ORDO:352709/ntbt"} -xref: OMIM:615362 {source="ORDO:352709/e", source="Orphanet:352709", source="DOID:0110727", source="MONDO:equivalentTo"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:352709/attributed", source="Orphanet:352709/ntbt", source="Orphanet:352709", source="DOID:0110727"} +xref: OMIM:615362 {source="Orphanet:352709", source="DOID:0110727", source="MONDO:equivalentTo", source="Orphanet:352709/e"} xref: Orphanet:352709 {source="DOID:0110727", source="MONDO:equivalentTo", source="OMIM:615362"} xref: Orphanet:79262 {source="MONDO:subClassOf", source="OMIM:615362"} xref: UMLS:C3715049 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615362"} @@ -281878,7 +281739,7 @@ synonym: "estrogen insensitivity" RELATED [OMIM:615363] synonym: "estrogen resistance" RELATED [MONDO:Lexical, OMIM:615363] synonym: "ESTRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615363] xref: EFO:0009042 {source="MONDO:equivalentTo"} -xref: OMIM:615363 {source="Orphanet:785", source="MONDO:equivalentTo", source="ORDO:785/e"} +xref: OMIM:615363 {source="Orphanet:785", source="MONDO:equivalentTo", source="Orphanet:785/e"} xref: Orphanet:785 {source="MONDO:equivalentTo", source="OMIM:615363"} xref: SCTID:724555000 {source="MONDO:equivalentTo"} xref: UMLS:C1851467 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -281900,8 +281761,8 @@ synonym: "LCCS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615368] synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical, OMIM:615368] synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, OMIM:615368] synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [OMIM:615368] -xref: ICD10CM:G71.2 {source="ORDO:363409/attributed", source="ORDO:363409/ntbt", source="Orphanet:363409"} -xref: OMIM:615368 {source="MONDO:equivalentTo", source="Orphanet:363409", source="ORDO:363409/e"} +xref: ICD10CM:G71.2 {source="Orphanet:363409/attributed", source="Orphanet:363409/ntbt", source="Orphanet:363409"} +xref: OMIM:615368 {source="Orphanet:363409/e", source="MONDO:equivalentTo", source="Orphanet:363409"} xref: Orphanet:363409 {source="OMIM:615368", source="MONDO:equivalentTo"} xref: SCTID:763346009 {source="MONDO:equivalentTo"} xref: UMLS:C3809272 {source="OMIM:615368", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -281929,8 +281790,8 @@ xref: Orphanet:1942 {source="MONDO:subClassOf", source="OMIM:615369"} xref: Orphanet:2382 {source="MONDO:subClassOf", source="OMIM:615369"} xref: UMLS:C3809278 {source="OMIM:615369", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005579 {source="DOID:0060475"} ! epilepsy, idiopathic generalized -is_a: MONDO:0016025 {source="ORDO:1942/btnt"} ! myoclonic-astastic epilepsy -is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome +is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astastic epilepsy +is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome is_a: MONDO:0100062 {source="OMIM:615369"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1917 {source="mim2gene_medgen"} ! CHD2 property_value: confidence "6.200000000000001" xsd:double @@ -282007,8 +281868,8 @@ synonym: "PLEKHG5 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MOND synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867] synonym: "RI-CMTC" EXACT [DOID:0110198] xref: DOID:0110198 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:369867", source="ORDO:369867/attributed", source="ORDO:369867/ntbt", source="DOID:0110198"} -xref: OMIM:615376 {source="Orphanet:369867", source="ORDO:369867/e", source="MONDO:equivalentTo", source="DOID:0110198"} +xref: ICD10CM:G60.0 {source="Orphanet:369867/attributed", source="Orphanet:369867/ntbt", source="Orphanet:369867", source="DOID:0110198"} +xref: OMIM:615376 {source="Orphanet:369867", source="MONDO:equivalentTo", source="DOID:0110198", source="Orphanet:369867/e"} xref: Orphanet:369867 {source="MONDO:equivalentTo", source="DOID:0110198", source="OMIM:615376"} xref: UMLS:C3809309 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615376"} is_a: MONDO:0015626 {source="DOID:0110198/inferred", source="MONDO:Redundant", source="OMIM:615376", source="Orphanet:369867/inferred"} ! Charcot-Marie-Tooth disease @@ -282062,8 +281923,8 @@ synonym: "mandibular hypoplasia-hearing loss-progeroid syndrome" EXACT [Orphanet synonym: "MDP syndrome" EXACT [Orphanet:363649] synonym: "MDPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615381] xref: GARD:0010989 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.8 {source="Orphanet:363649", source="ORDO:363649/attributed", source="ORDO:363649/ntbt"} -xref: OMIM:615381 {source="MONDO:equivalentTo", source="Orphanet:363649", source="ORDO:363649/e"} +xref: ICD10CM:E34.8 {source="Orphanet:363649/attributed", source="Orphanet:363649/ntbt", source="Orphanet:363649"} +xref: OMIM:615381 {source="Orphanet:363649/e", source="MONDO:equivalentTo", source="Orphanet:363649"} xref: Orphanet:363649 {source="MONDO:equivalentTo", source="OMIM:615381"} xref: UMLS:C3715192 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615381"} is_a: MONDO:0015333 {source="Orphanet:363649"} ! progeroid syndrome @@ -282086,7 +281947,7 @@ synonym: "nephronophthisis 16" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:6153 synonym: "nephronophthisis type 16" EXACT [DOID:0111124, MONDORULE:2, OMIM:615382] synonym: "NPHP16" EXACT ABBREVIATION [DOID:0111124, MONDO:Lexical, OMIM:615382] xref: DOID:0111124 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q61.5 {source="ORDO:93591/attributed", source="ORDO:93591/ntbt", source="Orphanet:93591"} +xref: ICD10CM:Q61.5 {source="Orphanet:93591/attributed", source="Orphanet:93591/ntbt", source="Orphanet:93591"} xref: OMIM:615382 {source="MONDO:equivalentTo", source="DOID:0111124", source="Orphanet:93591"} xref: Orphanet:655 {source="MONDO:subClassOf", source="OMIM:615382"} xref: Orphanet:93591 {source="MONDO:relatedTo"} @@ -282119,8 +281980,8 @@ synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386] synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080058 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:352403/attributed", source="ORDO:352403/ntbt", source="Orphanet:352403"} -xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="Orphanet:352403", source="ORDO:352403/e"} +xref: ICD10CM:G11.1 {source="Orphanet:352403", source="Orphanet:352403/attributed", source="Orphanet:352403/ntbt"} +xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="Orphanet:352403", source="Orphanet:352403/e"} xref: Orphanet:352403 {source="MONDO:equivalentTo", source="OMIM:615386"} xref: SCTID:763351003 {source="MONDO:equivalentTo"} xref: UMLS:C3809327 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615386"} @@ -282142,8 +282003,8 @@ synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [OMIM:615387] synonym: "TCR-alpha-beta+ T-cell deficiency" EXACT [Orphanet:397959] synonym: "TCR-Alpha/Beta deficiency" RELATED [OMIM:615387] xref: DOID:0111977 {source="MONDO:equivalentTo"} -xref: ICD10CM:D84.8 {source="ORDO:397959/attributed", source="ORDO:397959/ntbt", source="Orphanet:397959"} -xref: OMIM:615387 {source="MONDO:equivalentTo", source="ORDO:397959/e", source="Orphanet:397959"} +xref: ICD10CM:D84.8 {source="Orphanet:397959/attributed", source="Orphanet:397959/ntbt", source="Orphanet:397959"} +xref: OMIM:615387 {source="Orphanet:397959/e", source="MONDO:equivalentTo", source="Orphanet:397959"} xref: Orphanet:397959 {source="MONDO:equivalentTo", source="OMIM:615387"} xref: UMLS:C3809332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615387"} is_a: MONDO:0018814 {source="Orphanet:397959"} ! non-SCID combined immunodeficiency @@ -282158,7 +282019,7 @@ synonym: "VUR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615390] xref: OMIM:615390 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:615390"} xref: UMLS:C3809337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615390"} -is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615390", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615390", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux property_value: confidence "2.5986147714285717" xsd:double [Term] @@ -282174,8 +282035,8 @@ synonym: "COXPD16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615395, Orphanet:3525 synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111469 {source="MONDO:equivalentTo"} xref: GARD:0012892 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I42.2 {source="Orphanet:352563", source="ORDO:352563/attributed", source="ORDO:352563/ntbt"} -xref: OMIM:615395 {source="ORDO:352563/e", source="Orphanet:352563", source="MONDO:equivalentTo"} +xref: ICD10CM:I42.2 {source="Orphanet:352563/attributed", source="Orphanet:352563/ntbt", source="Orphanet:352563"} +xref: OMIM:615395 {source="Orphanet:352563", source="MONDO:equivalentTo", source="Orphanet:352563/e"} xref: Orphanet:352563 {source="MONDO:equivalentTo", source="OMIM:615395"} xref: UMLS:C3809339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615395"} is_a: MONDO:0000732 {source="DC-OMIM:615395", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency @@ -282242,8 +282103,8 @@ synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disabil synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PIGT-CDG" EXACT [Orphanet:369837] xref: DOID:0080140 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:369837/attributed", source="ORDO:369837/ntbt", source="Orphanet:369837"} -xref: OMIM:615398 {source="DOID:0080140", source="MONDO:equivalentTo", source="ORDO:369837/e", source="Orphanet:369837"} +xref: ICD10CM:Q87.8 {source="Orphanet:369837", source="Orphanet:369837/attributed", source="Orphanet:369837/ntbt"} +xref: OMIM:615398 {source="DOID:0080140", source="MONDO:equivalentTo", source="Orphanet:369837", source="Orphanet:369837/e"} xref: Orphanet:369837 {source="MONDO:equivalentTo", source="OMIM:615398"} xref: UMLS:C3809356 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615398"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369837", source="indirect"} ! syndromic intellectual disability @@ -282297,7 +282158,7 @@ is_a: MONDO:0000160 {source="DC-OMIM:615400", source="MONDO:Redundant", source=" intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2172 ! CNTN2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2172 {source="mim2gene_medgen"} ! CNTN2 -relationship: excluded_subClassOf MONDO:0019448 {source="ORDO:86814/btnt"} ! benign adult familial myoclonic epilepsy +relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt"} ! benign adult familial myoclonic epilepsy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.11978947957783914" xsd:double @@ -282314,8 +282175,8 @@ synonym: "SCID due to coronin-1A deficiency" EXACT [Orphanet:228003] synonym: "severe combined immunodeficiency due to CORO1A deficiency" EXACT CLINGEN_PREFERRED [] synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [Orphanet:228003] xref: DOID:0060019 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.2 {source="Orphanet:228003", source="ORDO:228003/attributed", source="ORDO:228003/ntbt"} -xref: OMIM:615401 {source="MONDO:equivalentTo", source="Orphanet:228003", source="ORDO:228003/e"} +xref: ICD10CM:D81.2 {source="Orphanet:228003/attributed", source="Orphanet:228003/ntbt", source="Orphanet:228003"} +xref: OMIM:615401 {source="Orphanet:228003/e", source="MONDO:equivalentTo", source="Orphanet:228003"} xref: Orphanet:228003 {source="OMIM:615401", source="MONDO:equivalentTo"} xref: UMLS:C3809383 {source="OMIM:615401", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="DOID:0060019", source="Orphanet:228003/inferred"} ! severe combined immunodeficiency @@ -282335,7 +282196,7 @@ synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1, OMI xref: OMIM:615402 {source="MONDO:equivalentTo"} xref: Orphanet:241 {source="MONDO:subClassOf", source="OMIM:615402"} xref: UMLS:C3809394 {source="OMIM:615402", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:615402", source="ORDO:241/btnt"} ! dyschromatosis universalis hereditaria +is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:615402", source="Orphanet:241/btnt"} ! dyschromatosis universalis hereditaria intersection_of: MONDO:0000736 ! dyschromatosis universalis hereditaria intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/47 ! ABCB6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/47 {source="mim2gene_medgen"} ! ABCB6 @@ -282394,8 +282255,8 @@ xref: Orphanet:399805 {source="MONDO:subClassOf", source="OMIM:615413"} xref: Orphanet:399808 {source="MONDO:subClassOf", source="OMIM:615413"} xref: UMLS:C3809427 {source="OMIM:615413", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:615413", source="MONDO:Redundant", source="OMIM:615413"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation -is_a: MONDO:0018394 {source="ORDO:399808/btnt"} ! male infertility with teratozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018394 {source="Orphanet:399808/btnt"} ! male infertility with teratozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 ! NANOS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 {source="mim2gene_medgen"} ! NANOS1 @@ -282472,9 +282333,9 @@ synonym: "hypotonia-speech impairment-severe cognitive delay syndrome" EXACT [MO synonym: "IHPRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615419] synonym: "IHPRF syndrome" EXACT [Orphanet:371364] synonym: "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" EXACT [Orphanet:371364] -xref: ICD10CM:Q87.8 {source="ORDO:371364/attributed", source="ORDO:371364/ntbt", source="Orphanet:371364"} -xref: OMIM:615419 {source="MONDO:superClassOf", source="ORDO:371364/btnt", source="Orphanet:371364"} -xref: OMIM:616801 {source="MONDO:superClassOf", source="ORDO:371364/btnt", source="Orphanet:371364"} +xref: ICD10CM:Q87.8 {source="Orphanet:371364", source="Orphanet:371364/attributed", source="Orphanet:371364/ntbt"} +xref: OMIM:615419 {source="MONDO:superClassOf", source="Orphanet:371364", source="Orphanet:371364/btnt"} +xref: OMIM:616801 {source="MONDO:superClassOf", source="Orphanet:371364", source="Orphanet:371364/btnt"} xref: OMIMPS:615419 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:371364 {source="MONDO:equivalentTo", source="OMIM:615419"} xref: UMLS:CN204877 {source="MONDO:equivalentTo"} @@ -282548,8 +282409,8 @@ synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate synonym: "epidermolysis bullosa simplex due to BP230 deficiency" EXACT [Orphanet:412181] synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425] synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615425] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:412181/attributed", source="ORDO:412181/ntbt", source="Orphanet:412181"} -xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="ORDO:412181/e"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:412181", source="Orphanet:412181/attributed", source="Orphanet:412181/ntbt"} +xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="Orphanet:412181/e"} xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"} xref: UMLS:C3809470 {source="NCBI:mim2gene_medline", source="OMIM:615425", source="MONDO:equivalentTo"} is_a: MONDO:0015551 {source="Orphanet:412181"} ! basal epidermolysis bullosa simplex @@ -282586,8 +282447,7 @@ synonym: "autosomal recessive deafness 88" NARROW [DOID:0110533] synonym: "autosomal recessive nonsyndromic deafness 88" NARROW [OMIM:615429] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 88" NARROW [DOID:0110533, MONDORULE:2] -synonym: "deafness, autosomal recessive 88" NARROW [OMIM:615429, OMIM:genemap2] -synonym: "deafness, autosomal recessive 88" NARROW [MONDO:Lexical, OMIM:615429] +synonym: "deafness, autosomal recessive 88" NARROW [MONDO:Lexical, OMIM:615429, OMIM:genemap2] synonym: "deafness, autosomal recessive type 88" NARROW [MONDORULE:2, OMIM:615429] synonym: "DFNB88" NARROW ABBREVIATION [DOID:0110533, MONDO:Lexical, OMIM:615429] synonym: "ELMOD3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -282610,7 +282470,7 @@ synonym: "MYP23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615431] xref: OMIM:615431 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="MONDO:subClassOf", source="OMIM:615431"} xref: UMLS:C3809482 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615431"} -is_a: MONDO:0001384 {source="DC-OMIM:615431", source="MONDO:Redundant", source="OMIM:615431", source="ORDO:98619/btnt", source="indirect"} ! myopia +is_a: MONDO:0001384 {source="DC-OMIM:615431", source="MONDO:Redundant", source="OMIM:615431", source="Orphanet:98619/btnt", source="indirect"} ! myopia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6701 {source="mim2gene_medgen"} ! LRPAP1 relationship: has_modifier MONDO:0021136 {source="MONDO:0020207"} ! rare property_value: confidence "29.333333333333442" xsd:double @@ -282638,12 +282498,12 @@ synonym: "chromosome 3q13.31 deletion syndrome" EXACT [OMIM:615433] synonym: "Del(3)(q13)" EXACT [Orphanet:1621] synonym: "monosomy 3q13" EXACT [DOID:0060418, Orphanet:1621] xref: DOID:0060418 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:1621/attributed", source="ORDO:1621/ntbt", source="Orphanet:1621"} -xref: MESH:C536808 {source="ORDO:1621/e", source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418"} -xref: OMIM:615433 {source="ORDO:1621/e", source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418"} +xref: ICD10CM:Q93.5 {source="Orphanet:1621", source="Orphanet:1621/attributed", source="Orphanet:1621/ntbt"} +xref: MESH:C536808 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} +xref: OMIM:615433 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} xref: Orphanet:1621 {source="OMIM:615433", source="MONDO:equivalentTo", source="DOID:0060418"} xref: SCTID:726705007 {source="MONDO:equivalentTo"} -xref: UMLS:C2931338 {source="ORDO:1621/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1621", source="DOID:0060418"} +xref: UMLS:C2931338 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"} xref: UMLS:C3809490 {source="OMIM:615433", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN036884 {source="MONDO:equivalentTo"} is_a: MONDO:0000761 {source="DC-OMIM:615433", source="DOID:0060418"} ! syndrome caused by partial chromosomal deletion @@ -282681,7 +282541,7 @@ synonym: "PRKG1 familial thoracic aortic aneurysm and aortic dissection" EXACT [ xref: OMIM:615436 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:615436"} xref: UMLS:C3809513 {source="NCBI:mim2gene_medline", source="OMIM:615436", source="MONDO:equivalentTo"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:615436", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:615436", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9414 ! PRKG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9414 {source="mim2gene_medgen"} ! PRKG1 @@ -282721,8 +282581,8 @@ synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORUL synonym: "COXPD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615440, Orphanet:369913] synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111496 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:369913/attributed", source="ORDO:369913/ntbt", source="Orphanet:369913"} -xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="ORDO:369913/e"} +xref: ICD10CM:E88.8 {source="Orphanet:369913", source="Orphanet:369913/attributed", source="Orphanet:369913/ntbt"} +xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="Orphanet:369913/e"} xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"} xref: UMLS:C3809526 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615440"} is_a: MONDO:0000732 {source="DC-OMIM:615440", source="MONDO:Redundant", source="OMIM:615440"} ! combined oxidative phosphorylation deficiency @@ -282812,7 +282672,7 @@ xref: OMIM:615453 {source="MONDO:equivalentTo", source="DOID:0080115"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615453"} xref: UMLS:C3809553 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615453"} is_a: MONDO:0000066 {source="DC-OMIM:615453", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080115", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080115", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2579 ! CYC1 @@ -282828,8 +282688,8 @@ synonym: "microcornea-myopic chorioretinal atrophy" EXACT CLINGEN_PREFERRED [] synonym: "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2900, https://orcid.org/0000-0002-5655-9589] synonym: "MMCAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615458] synonym: "MMCAT syndrome" EXACT [Orphanet:369970] -xref: ICD10CM:Q15.8 {source="ORDO:369970/attributed", source="ORDO:369970/ntbt", source="Orphanet:369970"} -xref: OMIM:615458 {source="MONDO:equivalentTo", source="ORDO:369970/e", source="Orphanet:369970"} +xref: ICD10CM:Q15.8 {source="Orphanet:369970/attributed", source="Orphanet:369970/ntbt", source="Orphanet:369970"} +xref: OMIM:615458 {source="Orphanet:369970/e", source="MONDO:equivalentTo", source="Orphanet:369970"} xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"} xref: UMLS:C3809567 {source="NCBI:mim2gene_medline", source="OMIM:615458", source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="Orphanet:369970"} ! inherited retinal dystrophy @@ -282847,9 +282707,9 @@ synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELAT synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [Orphanet:2117] synonym: "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" EXACT [Orphanet:2117] synonym: "HRTFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615465] -xref: ICD10CM:Q87.8 {source="ORDO:2117/attributed", source="ORDO:2117/ntbt", source="Orphanet:2117"} +xref: ICD10CM:Q87.8 {source="Orphanet:2117", source="Orphanet:2117/attributed", source="Orphanet:2117/ntbt"} xref: MESH:C564484 {source="MONDO:equivalentTo"} -xref: OMIM:615465 {source="MONDO:equivalentTo", source="Orphanet:2117", source="ORDO:2117/e"} +xref: OMIM:615465 {source="MONDO:equivalentTo", source="Orphanet:2117", source="Orphanet:2117/e"} xref: Orphanet:2117 {source="OMIM:615465", source="MONDO:equivalentTo"} xref: SCTID:766032007 {source="MONDO:equivalentTo"} xref: UMLS:C1845146 {source="OMIM:615465", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2117"} @@ -282869,8 +282729,8 @@ synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT CLINGEN_PREFE synonym: "IMD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615468] synonym: "immunodeficiency 12" RELATED [MONDO:Lexical, OMIM:615468] synonym: "immunodeficiency type 12" EXACT [MONDORULE:2, OMIM:615468] -xref: ICD10CM:D81.8 {source="ORDO:397964/attributed", source="ORDO:397964/ntbt", source="Orphanet:397964"} -xref: OMIM:615468 {source="MONDO:equivalentTo", source="ORDO:397964/e", source="Orphanet:397964"} +xref: ICD10CM:D81.8 {source="Orphanet:397964", source="Orphanet:397964/attributed", source="Orphanet:397964/ntbt"} +xref: OMIM:615468 {source="MONDO:equivalentTo", source="Orphanet:397964", source="Orphanet:397964/e"} xref: Orphanet:397964 {source="OMIM:615468", source="MONDO:equivalentTo"} xref: UMLS:C3809583 {source="OMIM:615468", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018814 {source="Orphanet:397964"} ! non-SCID combined immunodeficiency @@ -282895,8 +282755,8 @@ synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable cranio synonym: "MTDPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615471] xref: DOID:0080131 {source="MONDO:equivalentTo"} xref: GARD:0013298 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E88.8 {source="Orphanet:369897", source="ORDO:369897/attributed", source="ORDO:369897/ntbt"} -xref: OMIM:615471 {source="ORDO:369897/e", source="DOID:0080131", source="Orphanet:369897", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.8 {source="Orphanet:369897/attributed", source="Orphanet:369897/ntbt", source="Orphanet:369897"} +xref: OMIM:615471 {source="DOID:0080131", source="Orphanet:369897", source="MONDO:equivalentTo", source="Orphanet:369897/e"} xref: Orphanet:369897 {source="MONDO:equivalentTo", source="OMIM:615471"} xref: SCTID:765403009 {source="MONDO:equivalentTo"} xref: UMLS:C3809592 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615471"} @@ -282944,8 +282804,8 @@ synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [Orph synonym: "PASNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615474] synonym: "primary aldosteronism due to Conn adenoma" EXACT [Orphanet:85142] synonym: "primary aldosteronism, seizures, and neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615474] -xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="ORDO:369929/attributed", source="ORDO:369929/ntbt", source="Orphanet:369929"} -xref: OMIM:615474 {source="MONDO:equivalentTo", source="ORDO:369929/e", source="Orphanet:369929"} +xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:369929/attributed", source="Orphanet:369929/ntbt", source="Orphanet:369929"} +xref: OMIM:615474 {source="Orphanet:369929/e", source="MONDO:equivalentTo", source="Orphanet:369929"} xref: Orphanet:369929 {source="MONDO:equivalentTo", source="OMIM:615474"} xref: Orphanet:85142 {source="MONDO:relatedTo"} xref: UMLS:C3809609 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615474"} @@ -282965,8 +282825,8 @@ synonym: "EIEE18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615476] synonym: "epileptic encephalopathy, early infantile, 18" EXACT [MONDO:Lexical, OMIM:615476] synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2, OMIM:615476] xref: DOID:0080413 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="ORDO:369894/attributed", source="ORDO:369894/ntbt", source="Orphanet:369894"} -xref: OMIM:615476 {source="MONDO:equivalentTo", source="Orphanet:369894", source="ORDO:369894/e"} +xref: ICD10CM:G40.4 {source="Orphanet:369894/attributed", source="Orphanet:369894/ntbt", source="Orphanet:369894"} +xref: OMIM:615476 {source="Orphanet:369894/e", source="MONDO:equivalentTo", source="Orphanet:369894"} xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentTo"} xref: UMLS:C3809624 {source="OMIM:615476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -283028,7 +282888,7 @@ synonym: "IBGC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615483] xref: OMIM:615483 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="MONDO:subClassOf", source="OMIM:615483"} xref: UMLS:C3809645 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615483"} -is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615483", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis +is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615483", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8800 {source="mim2gene_medgen"} ! PDGFB relationship: has_modifier MONDO:0700005 ! idiopathic property_value: confidence "0.5" xsd:double @@ -283041,8 +282901,8 @@ synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical, OMIM:615485] synonym: "Bainbridge-Roppers syndrome" EXACT [Orphanet:352577] synonym: "BRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615485] synonym: "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q87.0 {source="ORDO:352577/attributed", source="ORDO:352577/ntbt", source="Orphanet:352577"} -xref: OMIM:615485 {source="MONDO:equivalentTo", source="Orphanet:352577", source="ORDO:352577/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:352577", source="Orphanet:352577/attributed", source="Orphanet:352577/ntbt"} +xref: OMIM:615485 {source="MONDO:equivalentTo", source="Orphanet:352577", source="Orphanet:352577/e"} xref: Orphanet:352577 {source="MONDO:equivalentTo", source="OMIM:615485"} xref: UMLS:C3809650 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615485"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352577", source="indirect"} ! syndromic intellectual disability @@ -283063,8 +282923,8 @@ synonym: "interstitial lung and liver disease" EXACT [MONDO:Lexical, OMIM:615486 synonym: "PAP, Reunion island type" EXACT [Orphanet:440427] synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [OMIM:615486] synonym: "pulmonary alveolar proteinosis, Reunion island type" EXACT [Orphanet:440427] -xref: ICD10CM:J84.0 {source="ORDO:440427/attributed", source="ORDO:440427/ntbt", source="Orphanet:440427"} -xref: OMIM:615486 {source="MONDO:equivalentTo", source="Orphanet:440427", source="ORDO:440427/e"} +xref: ICD10CM:J84.0 {source="Orphanet:440427", source="Orphanet:440427/attributed", source="Orphanet:440427/ntbt"} +xref: OMIM:615486 {source="Orphanet:440427/e", source="MONDO:equivalentTo", source="Orphanet:440427"} xref: Orphanet:370088 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615486"} xref: Orphanet:440427 {source="MONDO:equivalentTo"} xref: UMLS:C3809651 {source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="OMIM:615486"} @@ -283111,8 +282971,8 @@ synonym: "CMT2R" EXACT ABBREVIATION [DOID:0110161, GARD:0012451, MONDO:Lexical, synonym: "TRIM2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110161 {source="MONDO:equivalentTo"} xref: GARD:0012451 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:397968/attributed", source="ORDO:397968/ntbt", source="DOID:0110161", source="Orphanet:397968"} -xref: OMIM:615490 {source="DOID:0110161", source="MONDO:equivalentTo", source="ORDO:397968/e", source="Orphanet:397968"} +xref: ICD10CM:G60.0 {source="DOID:0110161", source="Orphanet:397968/attributed", source="Orphanet:397968/ntbt", source="Orphanet:397968"} +xref: OMIM:615490 {source="Orphanet:397968/e", source="DOID:0110161", source="MONDO:equivalentTo", source="Orphanet:397968"} xref: Orphanet:397968 {source="DOID:0110161", source="MONDO:equivalentTo", source="OMIM:615490"} xref: UMLS:C3809655 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615490"} is_a: MONDO:0015626 {source="DOID:0110161/inferred", source="MONDO:Redundant", source="OMIM:615490", source="Orphanet:397968/inferred"} ! Charcot-Marie-Tooth disease @@ -283134,8 +282994,8 @@ synonym: "NDGOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615491] synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615491] synonym: "spastic paraplegia 79, autosomal recessive" RELATED [OMIM:615491] synonym: "SPG79" RELATED ABBREVIATION [OMIM:615491] -xref: ICD10CM:G31.8 {source="ORDO:352654/attributed", source="ORDO:352654/ntbt", source="Orphanet:352654"} -xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="ORDO:352654/e"} +xref: ICD10CM:G31.8 {source="Orphanet:352654", source="Orphanet:352654/attributed", source="Orphanet:352654/ntbt"} +xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="Orphanet:352654/e"} xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"} xref: UMLS:C3809665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615491"} is_a: MONDO:0018609 {source="Orphanet:352654"} ! syndromic hereditary optic neuropathy @@ -283154,8 +283014,8 @@ synonym: "mental retardation, autosomal recessive 37" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:615493] synonym: "mental retardation, autosomal recessive, 37" EXACT [OMIM:615493, OMIM:genemap2] synonym: "MRT37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493] -xref: ICD10CM:G93.8 {source="Orphanet:356996", source="ORDO:356996/attributed", source="ORDO:356996/ntbt"} -xref: OMIM:615493 {source="ORDO:356996/e", source="Orphanet:356996", source="MONDO:equivalentTo"} +xref: ICD10CM:G93.8 {source="Orphanet:356996/attributed", source="Orphanet:356996/ntbt", source="Orphanet:356996"} +xref: OMIM:615493 {source="Orphanet:356996", source="MONDO:equivalentTo", source="Orphanet:356996/e"} xref: Orphanet:356996 {source="MONDO:equivalentTo", source="OMIM:615493"} xref: UMLS:C3809672 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615493"} is_a: MONDO:0000508 {source="Orphanet:356996"} ! syndromic intellectual disability @@ -283199,9 +283059,9 @@ synonym: "molybdenum cofactor deficiency type C" RELATED [DOID:0111166] synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical, OMIM:615501] synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1, OMIM:615501] xref: DOID:0111166 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="ORDO:308400/attributed", source="ORDO:308400/ntbt", source="Orphanet:308400"} +xref: ICD10CM:E72.1 {source="Orphanet:308400", source="Orphanet:308400/attributed", source="Orphanet:308400/ntbt"} xref: MESH:C565374 {source="MONDO:equivalentTo"} -xref: OMIM:615501 {source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400", source="ORDO:308400/e"} +xref: OMIM:615501 {source="Orphanet:308400/e", source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400"} xref: Orphanet:308400 {source="OMIM:615501", source="MONDO:equivalentTo", source="DOID:0111166"} xref: Orphanet:833 {source="MONDO:subClassOf", source="OMIM:615501"} xref: Orphanet:99732 {source="MONDO:subClassOf", source="OMIM:615501"} @@ -283225,8 +283085,8 @@ synonym: "mental retardation, autosomal dominant 21" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:615502] synonym: "MRD21" EXACT ABBREVIATION [DOID:0070051, MONDO:Lexical, OMIM:615502] xref: DOID:0070051 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:363611/attributed", source="ORDO:363611/ntbt", source="Orphanet:363611"} -xref: OMIM:615502 {source="MONDO:equivalentTo", source="ORDO:363611/e", source="Orphanet:363611", source="DOID:0070051"} +xref: ICD10CM:Q87.8 {source="Orphanet:363611", source="Orphanet:363611/attributed", source="Orphanet:363611/ntbt"} +xref: OMIM:615502 {source="MONDO:equivalentTo", source="Orphanet:363611", source="DOID:0070051", source="Orphanet:363611/e"} xref: Orphanet:363611 {source="OMIM:615502", source="MONDO:equivalentTo"} xref: UMLS:C3809686 {source="NCBI:mim2gene_medline", source="OMIM:615502", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363611", source="indirect"} ! syndromic intellectual disability @@ -283252,7 +283112,7 @@ xref: OMIM:615503 {source="MONDO:equivalentTo", source="DOID:0110094"} xref: Orphanet:93271 {source="MONDO:subClassOf", source="OMIM:615503"} xref: UMLS:C3809691 {source="OMIM:615503", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018770 {source="DOID:0110094", source="OMIM:615503"} ! Jeune syndrome -is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type +is_a: MONDO:0019664 {source="Orphanet:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21862 {source="mim2gene_medgen"} ! DYNC2I1 property_value: confidence "0.7173913043478257" xsd:double @@ -283327,8 +283187,8 @@ synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis synonym: "SAM syndrome" EXACT [Orphanet:369992] synonym: "Sam syndrome" RELATED [OMIM:615508] synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [OMIM:615508] -xref: ICD10CM:Q82.8 {source="ORDO:369992/attributed", source="ORDO:369992/ntbt", source="Orphanet:369992"} -xref: OMIM:615508 {source="MONDO:equivalentTo", source="ORDO:369992/e", source="Orphanet:369992"} +xref: ICD10CM:Q82.8 {source="Orphanet:369992/attributed", source="Orphanet:369992/ntbt", source="Orphanet:369992"} +xref: OMIM:615508 {source="Orphanet:369992/e", source="MONDO:equivalentTo", source="Orphanet:369992"} xref: Orphanet:369992 {source="MONDO:equivalentTo", source="OMIM:615508"} xref: UMLS:C3809719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615508"} is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder @@ -283377,7 +283237,7 @@ xref: UMLS:C0268123 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C3714933 {source="OMIM:615511", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/468 {source="mim2gene_medgen"} ! AMPD1 -relationship: excluded_subClassOf MONDO:0013028 {source="ORDO:45/btnt"} ! adenosine monophosphate deaminase deficiency +relationship: excluded_subClassOf MONDO:0013028 {source="Orphanet:45/btnt"} ! adenosine monophosphate deaminase deficiency property_value: confidence "1.6470588235294117" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency xsd:anyURI {source="GARD:0000547"} @@ -283394,14 +283254,14 @@ synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884] synonym: "triosephosphate isomerase deficiency" EXACT [MONDO:Lexical, OMIM:615512] xref: DOID:0050884 {source="MONDO:equivalentTo"} xref: GARD:0005287 {source="MONDO:equivalentTo"} -xref: ICD10CM:D55.2 {source="Orphanet:868", source="ORDO:868/attributed", source="ORDO:868/ntbt"} +xref: ICD10CM:D55.2 {source="Orphanet:868", source="Orphanet:868/attributed", source="Orphanet:868/ntbt"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C566029 {source="MONDO:equivalentTo"} xref: NCIT:C131652 {source="MONDO:equivalentTo"} -xref: OMIM:615512 {source="ORDO:868/e", source="DOID:0050884", source="MONDO:equivalentTo", source="Orphanet:868"} +xref: OMIM:615512 {source="DOID:0050884", source="MONDO:equivalentTo", source="Orphanet:868", source="Orphanet:868/e"} xref: Orphanet:868 {source="OMIM:615512", source="MONDO:equivalentTo"} xref: SCTID:234405009 {source="MONDO:equivalentTo"} -xref: UMLS:C0398562 {source="ORDO:868/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:868"} +xref: UMLS:C0398562 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:868", source="Orphanet:868/e"} xref: UMLS:C1860808 {source="OMIM:615512", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:868", source="NCIT:C131652"} is_a: MONDO:0002908 {source="DOID:0050884"} ! glucose metabolism disease is_a: MONDO:0003664 ! hemolytic anemia @@ -283426,7 +283286,7 @@ synonym: "p110-Delta-Activating mutation causing senescent T cells, lymphadenopa xref: OMIM:615513 {source="MONDO:equivalentTo"} xref: Orphanet:397596 {source="MONDO:subClassOf", source="OMIM:615513"} xref: UMLS:C3714976 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:615513"} -is_a: MONDO:0018338 {source="ORDO:397596/btnt"} ! activated PI3K-delta syndrome +is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8977 {source="mim2gene_medgen"} ! PIK3CD relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.1527777777777777" xsd:double @@ -283462,7 +283322,7 @@ synonym: "intellectual disability, autosomal recessive type 38" EXACT [MONDORULE synonym: "mental retardation, autosomal recessive 38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] synonym: "mental retardation, autosomal recessive type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:615516] synonym: "MRT38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] -xref: OMIM:615516 {source="Orphanet:329195", source="ORDO:329195/e", source="MONDO:equivalentTo"} +xref: OMIM:615516 {source="Orphanet:329195", source="MONDO:equivalentTo", source="Orphanet:329195/e"} xref: Orphanet:329195 {source="MONDO:equivalentTo", source="OMIM:615516"} xref: UMLS:C3809753 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615516"} is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability @@ -283487,9 +283347,9 @@ synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:de synonym: "HFE5" EXACT ABBREVIATION [DOID:0111031, MONDO:Lexical, OMIM:615517] synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517] xref: DOID:0111031 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="ORDO:247790/attributed", source="ORDO:247790/ntbt", source="ORDO:447792/attributed", source="ORDO:447792/ntbt", source="DOID:0111031", source="Orphanet:247790", source="Orphanet:447792"} +xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="DOID:0111031", source="Orphanet:247790", source="Orphanet:447792", source="Orphanet:247790/attributed", source="Orphanet:247790/ntbt", source="Orphanet:447792/attributed", source="Orphanet:447792/ntbt"} xref: MESH:C565020 {source="MONDO:equivalentTo"} -xref: OMIM:615517 {source="MONDO:equivalentTo", source="DOID:0111031", source="Orphanet:247790", source="ORDO:247790/e"} +xref: OMIM:615517 {source="Orphanet:247790/e", source="MONDO:equivalentTo", source="DOID:0111031", source="Orphanet:247790"} xref: Orphanet:247790 {source="MONDO:equivalentTo", source="DOID:0111031", source="MONDO:preferredExternal", source="OMIM:615517"} xref: Orphanet:447792 {source="MONDO:equivalentObsolete"} xref: UMLS:C1851316 {source="MONDO:equivalentTo", source="OMIM:615517"} @@ -283514,8 +283374,8 @@ synonym: "IMD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615518] synonym: "immunodeficiency 13" RELATED [MONDO:Lexical, OMIM:615518] synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518] xref: GARD:0012375 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D72.8 {source="ORDO:228000/attributed", source="ORDO:228000/ntbt", source="Orphanet:228000"} -xref: OMIM:615518 {source="MONDO:equivalentTo", source="ORDO:228000/e", source="Orphanet:228000"} +xref: ICD10CM:D72.8 {source="Orphanet:228000/attributed", source="Orphanet:228000/ntbt", source="Orphanet:228000"} +xref: OMIM:615518 {source="Orphanet:228000/e", source="MONDO:equivalentTo", source="Orphanet:228000"} xref: Orphanet:228000 {source="MONDO:equivalentTo", source="OMIM:615518"} xref: SCTID:763713000 {source="MONDO:equivalentTo"} xref: UMLS:C3809768 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615518"} @@ -283537,9 +283397,9 @@ synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or synonym: "hypopigmentation and punctate keratosis of the palms and soles" EXACT [Orphanet:324561] synonym: "punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [GARD:0012384] xref: GARD:0012384 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:324561", source="ORDO:324561/attributed", source="ORDO:324561/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:324561/attributed", source="Orphanet:324561/ntbt", source="Orphanet:324561"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:615522 {source="MONDO:equivalentTo", source="Orphanet:324561", source="ORDO:324561/e"} +xref: OMIM:615522 {source="Orphanet:324561/e", source="MONDO:equivalentTo", source="Orphanet:324561"} xref: Orphanet:324561 {source="OMIM:615522", source="MONDO:equivalentTo"} xref: SCTID:711154007 {source="MONDO:equivalentTo"} xref: UMLS:C3809781 {source="OMIM:615522", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -283629,7 +283489,7 @@ xref: Orphanet:391411 {source="DOID:0060891", source="MONDO:subClassOf", source= xref: UMLS:C3809811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615528"} is_a: MONDO:0000828 {source="DOID:0060891"} ! juvenile-onset Parkinson disease is_a: MONDO:0005180 {source="DOID:0060891/inferred", source="MONDO:Redundant", source="OMIM:615528", source="indirect"} ! Parkinson disease -is_a: MONDO:0018321 {source="ORDO:391411/btnt"} ! atypical juvenile parkinsonism +is_a: MONDO:0018321 {source="Orphanet:391411/btnt"} ! atypical juvenile parkinsonism intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15469 ! DNAJC6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15469 {source="mim2gene_medgen"} ! DNAJC6 @@ -283687,13 +283547,13 @@ synonym: "RAPK" EXACT ABBREVIATION [DOID:0060258, Orphanet:178307] synonym: "reticulate acropigmentation of Kitamura" EXACT [MONDO:Lexical, OMIM:615537] synonym: "reticulate pigmentation of Kitamura" RELATED [OMIM:615537] xref: DOID:0060258 {source="MONDO:equivalentTo"} -xref: ICD10CM:L81.8 {source="ORDO:178307/attributed", source="ORDO:178307/ntbt", source="Orphanet:178307"} +xref: ICD10CM:L81.8 {source="Orphanet:178307/attributed", source="Orphanet:178307/ntbt", source="Orphanet:178307"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562924 {source="DOID:0060258", source="MONDO:directSiblingOf"} -xref: OMIM:615537 {source="MONDO:equivalentTo", source="DOID:0060258", source="ORDO:178307/e", source="Orphanet:178307"} +xref: OMIM:615537 {source="Orphanet:178307/e", source="MONDO:equivalentTo", source="DOID:0060258", source="Orphanet:178307"} xref: Orphanet:178307 {source="MONDO:equivalentTo", source="DOID:0060258", source="OMIM:615537"} xref: SCTID:239133004 {source="MONDO:equivalentTo", source="DOID:0060258"} -xref: UMLS:C0406811 {source="NCBI:mim2gene_medline", source="DOID:0060258", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615537", source="ORDO:178307/e", source="Orphanet:178307"} +xref: UMLS:C0406811 {source="Orphanet:178307/e", source="NCBI:mim2gene_medline", source="DOID:0060258", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615537", source="Orphanet:178307"} is_a: MONDO:0000118 {source="DC-OMIM:615537", source="OMIM:615537"} ! reticulate pigment disorder is_a: MONDO:0019289 {source="Orphanet:178307"} ! hyperpigmentation of the skin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/188 {source="mim2gene_medgen"} ! ADAM10 @@ -283726,7 +283586,7 @@ synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [OMIM:615 xref: OMIM:615539 {source="MONDO:equivalentTo"} xref: Orphanet:2953 {source="MONDO:subClassOf", source="OMIM:615539"} xref: UMLS:C3809845 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615539"} -is_a: MONDO:0011142 {source="MONDO:Redundant", source="ORDO:2953/btnt"} ! Ehlers-Danlos syndrome, musculocontractural type +is_a: MONDO:0011142 {source="MONDO:Redundant", source="Orphanet:2953/btnt"} ! Ehlers-Danlos syndrome, musculocontractural type intersection_of: MONDO:0011142 ! Ehlers-Danlos syndrome, musculocontractural type intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21144 ! DSE relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21144 {source="mim2gene_medgen"} ! DSE @@ -283741,8 +283601,7 @@ synonym: "autosomal recessive deafness 76" NARROW [DOID:0110524] synonym: "autosomal recessive nonsyndromic deafness 76" NARROW CLINGEN_PREFERRED [OMIM:615540] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 76" NARROW [DOID:0110524, MONDORULE:2] -synonym: "deafness, autosomal recessive 76" NARROW [OMIM:615540, OMIM:genemap2] -synonym: "deafness, autosomal recessive 76" NARROW [MONDO:Lexical, OMIM:615540] +synonym: "deafness, autosomal recessive 76" NARROW [MONDO:Lexical, OMIM:615540, OMIM:genemap2] synonym: "deafness, autosomal recessive type 76" NARROW [MONDORULE:2, OMIM:615540] synonym: "DFNB76" NARROW ABBREVIATION [DOID:0110524, MONDO:Lexical, OMIM:615540] synonym: "SYNE4 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -283767,8 +283626,8 @@ synonym: "intellectual disability, autosomal recessive type 39" EXACT [MONDORULE synonym: "mental retardation, autosomal recessive 39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] synonym: "mental retardation, autosomal recessive type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:615541] synonym: "MRT39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] -xref: ICD10CM:Q87.8 {source="Orphanet:391307", source="ORDO:391307/attributed", source="ORDO:391307/ntbt"} -xref: OMIM:615541 {source="Orphanet:391307", source="ORDO:391307/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:391307", source="Orphanet:391307/attributed", source="Orphanet:391307/ntbt"} +xref: OMIM:615541 {source="Orphanet:391307", source="MONDO:equivalentTo", source="Orphanet:391307/e"} xref: Orphanet:391307 {source="MONDO:equivalentTo", source="OMIM:615541"} xref: UMLS:C3809853 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615541"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:391307", source="indirect"} ! syndromic intellectual disability @@ -283785,7 +283644,7 @@ synonym: "testicular anomalies with or without congenital heart disease" EXACT [ xref: OMIM:615542 {source="MONDO:equivalentTo"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:615542"} xref: UMLS:C3809858 {source="OMIM:615542", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4173 {source="mim2gene_medgen"} ! GATA4 property_value: confidence "1.0498438571428572" xsd:double @@ -283822,7 +283681,7 @@ synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [OMIM:615545 xref: OMIM:615545 {source="MONDO:equivalentTo"} xref: Orphanet:99860 {source="MONDO:subClassOf", source="OMIM:615545"} xref: UMLS:C3809874 {source="OMIM:615545", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020511 {source="MONDO:Redundant", source="ORDO:99860/btnt"} ! precursor B-cell acute lymphoblastic leukemia +is_a: MONDO:0020511 {source="MONDO:Redundant", source="Orphanet:99860/btnt"} ! precursor B-cell acute lymphoblastic leukemia is_a: MONDO:0020573 {source="OMIM:615545"} ! inherited disease susceptibility intersection_of: MONDO:0020511 ! precursor B-cell acute lymphoblastic leukemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8619 ! PAX5 @@ -283867,10 +283726,10 @@ synonym: "Schaaf-Yang syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615 synonym: "SHFYNG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615547] xref: GARD:0010087 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: GARD:0013316 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:398069", source="ORDO:398069/attributed", source="ORDO:398069/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:398069", source="Orphanet:398069/attributed", source="Orphanet:398069/ntbt"} xref: MESH:C535385 {source="MONDO:equivalentTo"} xref: OMIM:208080 {source="MONDO:equivalentTo"} -xref: OMIM:615547 {source="Orphanet:398069", source="ORDO:398069/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: OMIM:615547 {source="Orphanet:398069", source="MONDO:equivalentTo", source="Orphanet:398069/e", source="MONDO:preferredExternal"} xref: Orphanet:398069 {source="OMIM:615547", source="MONDO:equivalentTo"} xref: Orphanet:739 {source="MONDO:subClassOf", source="OMIM:615547"} xref: UMLS:C1859724 {source="OMIM:208080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -283904,9 +283763,9 @@ synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" xref: DOID:0070149 {source="MONDO:equivalentTo"} xref: GARD:0012732 {source="MONDO:equivalentTo"} xref: GARD:12723 {source="DOID:0070149"} -xref: ICD10CM:G60.8 {source="ORDO:391397/attributed", source="ORDO:391397/ntbt", source="DOID:0070149", source="Orphanet:391397"} +xref: ICD10CM:G60.8 {source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/attributed", source="Orphanet:391397/ntbt"} xref: NCIT:C125388 {source="MONDO:equivalentTo"} -xref: OMIM:615548 {source="MONDO:equivalentTo", source="ORDO:391397/e", source="DOID:0070149", source="Orphanet:391397"} +xref: OMIM:615548 {source="MONDO:equivalentTo", source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/e"} xref: Orphanet:391397 {source="MONDO:equivalentTo", source="OMIM:615548", source="DOID:0070149"} xref: UMLS:C3809882 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C125388", source="OMIM:615548"} is_a: MONDO:0015364 {source="DOID:0070149", source="OMIM:615548", source="Orphanet:391397/inferred"} ! hereditary sensory and autonomic neuropathy @@ -283947,7 +283806,7 @@ xref: DOID:0111730 {source="MONDO:equivalentTo"} xref: OMIM:615551 {source="MONDO:equivalentTo"} xref: Orphanet:306577 {source="MONDO:subClassOf", source="OMIM:615551"} xref: UMLS:C3809893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615551"} -is_a: MONDO:0017629 {source="ORDO:306577/btnt"} ! sodium channelopathy-related small fiber neuropathy +is_a: MONDO:0017629 {source="Orphanet:306577/btnt"} ! sodium channelopathy-related small fiber neuropathy is_a: MONDO:0018319 {source="DC-OMIM:615551", source="MONDO:Redundant", source="OMIM:615551"} ! familial episodic pain syndrome intersection_of: MONDO:0018319 ! familial episodic pain syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10582 ! SCN10A @@ -283962,9 +283821,9 @@ subset: ordo_clinical_subtype {source="Orphanet:391392"} synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical, OMIM:615552] synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:615552] synonym: "FEPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615552] -xref: ICD10CM:M79.6 {source="Orphanet:391392", source="ORDO:391392/attributed", source="ORDO:391392/ntbt"} +xref: ICD10CM:M79.6 {source="Orphanet:391392", source="Orphanet:391392/attributed", source="Orphanet:391392/ntbt"} xref: NCIT:C125390 {source="MONDO:equivalentTo"} -xref: OMIM:615552 {source="Orphanet:391392", source="ORDO:391392/e", source="MONDO:equivalentTo"} +xref: OMIM:615552 {source="Orphanet:391392", source="MONDO:equivalentTo", source="Orphanet:391392/e"} xref: Orphanet:391384 {source="MONDO:subClassOf", source="OMIM:615552"} xref: Orphanet:391392 {source="MONDO:equivalentTo", source="OMIM:615552"} xref: UMLS:C3809899 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615552", source="NCIT:C125390"} @@ -283983,8 +283842,8 @@ synonym: "arthrogryposis, impaired intellectual development, and seizures" EXACT synonym: "arthrogryposis, intellectual disability, and seizures" RELATED [MONDO:Lexical, OMIM:615553] synonym: "arthrogryposis, mental retardation, and seizures" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] synonym: "SLC35A3-CDG" EXACT [Orphanet:370943] -xref: ICD10CM:Q87.8 {source="ORDO:370943/attributed", source="ORDO:370943/ntbt", source="Orphanet:370943"} -xref: OMIM:615553 {source="MONDO:equivalentTo", source="ORDO:370943/e", source="Orphanet:370943"} +xref: ICD10CM:Q87.8 {source="Orphanet:370943/attributed", source="Orphanet:370943/ntbt", source="Orphanet:370943"} +xref: OMIM:615553 {source="Orphanet:370943/e", source="MONDO:equivalentTo", source="Orphanet:370943"} xref: Orphanet:370943 {source="OMIM:615553", source="MONDO:equivalentTo"} xref: UMLS:C3809910 {source="OMIM:615553", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation @@ -284006,8 +283865,8 @@ subset: ordo_disease {source="Orphanet:50920"} synonym: "mammary polyadenomatosis" EXACT [Orphanet:50920] synonym: "MFAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615554] synonym: "multiple fibroadenomas of the breast" RELATED [MONDO:Lexical, OMIM:615554] -xref: ICD10CM:D24 {source="ORDO:50920/ntbt", source="Orphanet:50920"} -xref: OMIM:615554 {source="ORDO:50920/e", source="MONDO:equivalentTo", source="Orphanet:50920"} +xref: ICD10CM:D24 {source="Orphanet:50920", source="Orphanet:50920/ntbt"} +xref: OMIM:615554 {source="MONDO:equivalentTo", source="Orphanet:50920", source="Orphanet:50920/e"} xref: Orphanet:50920 {source="OMIM:615554", source="MONDO:equivalentTo"} xref: UMLS:C3809918 {source="OMIM:615554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000620 {source="Orphanet:50920"} ! breast benign neoplasm @@ -284024,8 +283883,8 @@ synonym: "familial isolated prolactin receptor deficiency" EXACT [Orphanet:39768 synonym: "hereditary hyperprolactinemia (disease)" EXACT [MONDO:patterns/hereditary] synonym: "HPRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615555] synonym: "hyperprolactinemia" RELATED [MONDO:Lexical, OMIM:615555] -xref: ICD10CM:E22.1 {source="MONDO:relatedTo", source="Orphanet:397685", source="ORDO:397685/attributed", source="ORDO:397685/ntbt"} -xref: OMIM:615555 {source="ORDO:397685/e", source="Orphanet:397685", source="MONDO:equivalentTo"} +xref: ICD10CM:E22.1 {source="Orphanet:397685/attributed", source="Orphanet:397685/ntbt", source="MONDO:relatedTo", source="Orphanet:397685"} +xref: OMIM:615555 {source="Orphanet:397685", source="MONDO:equivalentTo", source="Orphanet:397685/e"} xref: Orphanet:397685 {source="OMIM:615555", source="MONDO:equivalentTo"} xref: SCTID:763715007 {source="MONDO:equivalentTo"} xref: UMLS:C0020514 {source="MONDO:relatedTo", source="OMIM:615555", source="NCBI:mim2gene_medline"} @@ -284051,7 +283910,7 @@ xref: UMLS:C3809925 {source="NCBI:mim2gene_medline", source="OMIM:615557", sourc intersection_of: MONDO:0020573 {source="OMIM:615557"} ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0017775 {source="OMIM:615557"} ! melioidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11851 {source="mim2gene_medgen"} ! TLR5 -relationship: predisposes_towards MONDO:0017775 {source="ORDO:31202-adjusted"} ! melioidosis +relationship: predisposes_towards MONDO:0017775 {source="Orphanet:31202-adjusted"} ! melioidosis property_value: confidence "34.333333333333464" xsd:double [Term] @@ -284112,7 +283971,6 @@ is_obsolete: true consider: MONDO:8000023 consider: MONDO:8000024 - [Term] id: MONDO:0014254 name: otofaciocervical syndrome 2 @@ -284126,7 +283984,7 @@ synonym: "PAX1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:pat xref: OMIM:615560 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="MONDO:subClassOf", source="OMIM:615560"} xref: UMLS:C3714942 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615560"} -is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:615560", source="ORDO:2792/btnt"} ! otofaciocervical syndrome +is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:615560", source="Orphanet:2792/btnt"} ! otofaciocervical syndrome intersection_of: MONDO:0008163 ! otofaciocervical syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8615 ! PAX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8615 {source="mim2gene_medgen"} ! PAX1 @@ -284189,8 +284047,8 @@ synonym: "Asns deficiency" RELATED [OMIM:615574] synonym: "ASNSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615574] synonym: "asparagine synthetase deficiency" EXACT [MONDO:Lexical, OMIM:615574, Orphanet:391376] synonym: "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:E72.8 {source="ORDO:391376/attributed", source="ORDO:391376/ntbt", source="Orphanet:391376"} -xref: OMIM:615574 {source="MONDO:equivalentTo", source="Orphanet:391376", source="ORDO:391376/e"} +xref: ICD10CM:E72.8 {source="Orphanet:391376", source="Orphanet:391376/attributed", source="Orphanet:391376/ntbt"} +xref: OMIM:615574 {source="MONDO:equivalentTo", source="Orphanet:391376", source="Orphanet:391376/e"} xref: Orphanet:391376 {source="MONDO:equivalentTo", source="OMIM:615574"} xref: UMLS:C3809971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615574"} is_a: MONDO:0018318 {source="Orphanet:391376"} ! disorder of asparagine metabolism @@ -284216,7 +284074,7 @@ xref: OMIM:615575 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="MONDO:subClassOf", source="OMIM:615575"} xref: UMLS:C3711384 {source="OMIM:615575", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000075 {source="DC-OMIM:615575", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor -is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2 +is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2 intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28844 ! FBXO38 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28844 {source="mim2gene_medgen"} ! FBXO38 @@ -284253,8 +284111,8 @@ synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORUL synonym: "COXPD18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615578] synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111484 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:391348/attributed", source="ORDO:391348/ntbt", source="Orphanet:391348"} -xref: OMIM:615578 {source="MONDO:equivalentTo", source="ORDO:391348/e", source="Orphanet:391348"} +xref: ICD10CM:E88.8 {source="Orphanet:391348/attributed", source="Orphanet:391348/ntbt", source="Orphanet:391348"} +xref: OMIM:615578 {source="Orphanet:391348/e", source="MONDO:equivalentTo", source="Orphanet:391348"} xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"} xref: UMLS:C3810001 {source="OMIM:615578", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:615578", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency @@ -284374,8 +284232,8 @@ synonym: "immunodeficiency 15" RELATED [MONDO:Lexical, OMIM:615592] synonym: "immunodeficiency 15B" EXACT [OMIM:615592, OMIM:genemap2] synonym: "immunodeficiency type 15" EXACT [MONDORULE:2, OMIM:615592] synonym: "SCID due to IKK2 deficiency" EXACT [Orphanet:397787] -xref: ICD10CM:D81.2 {source="ORDO:397787/attributed", source="ORDO:397787/ntbt", source="Orphanet:397787"} -xref: OMIM:615592 {source="MONDO:equivalentTo", source="Orphanet:397787", source="ORDO:397787/e"} +xref: ICD10CM:D81.2 {source="Orphanet:397787", source="Orphanet:397787/attributed", source="Orphanet:397787/ntbt"} +xref: OMIM:615592 {source="MONDO:equivalentTo", source="Orphanet:397787", source="Orphanet:397787/e"} xref: Orphanet:397787 {source="MONDO:equivalentTo", source="OMIM:615592"} xref: UMLS:C3810043 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:615592"} is_a: MONDO:0044201 {source="Orphanet:397787"} ! T+ B+ severe combined immunodeficiency @@ -284395,8 +284253,8 @@ synonym: "IMD16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615593] synonym: "immunodeficiency 16" RELATED [MONDO:Lexical, OMIM:615593] synonym: "immunodeficiency type 16" EXACT [MONDORULE:2, OMIM:615593] synonym: "OX40 deficiency" RELATED [OMIM:615593] -xref: ICD10CM:D81.8 {source="ORDO:431149/attributed", source="ORDO:431149/ntbt", source="Orphanet:431149"} -xref: OMIM:615593 {source="ORDO:431149/e", source="MONDO:equivalentTo", source="Orphanet:431149"} +xref: ICD10CM:D81.8 {source="Orphanet:431149", source="Orphanet:431149/attributed", source="Orphanet:431149/ntbt"} +xref: OMIM:615593 {source="MONDO:equivalentTo", source="Orphanet:431149", source="Orphanet:431149/e"} xref: Orphanet:431149 {source="MONDO:equivalentTo", source="OMIM:615593"} xref: SCTID:766879006 {source="MONDO:equivalentTo"} xref: UMLS:C3810053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615593"} @@ -284419,7 +284277,7 @@ xref: OMIM:615595 {source="MONDO:equivalentTo"} xref: Orphanet:397593 {source="MONDO:subClassOf", source="OMIM:615595"} xref: UMLS:C3810055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615595"} is_a: MONDO:0000732 {source="DC-OMIM:615595", source="MONDO:Redundant", source="OMIM:615595"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0018337 {source="ORDO:397593/btnt"} ! severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency +is_a: MONDO:0018337 {source="Orphanet:397593/btnt"} ! severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21365 ! LYRM4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21365 {source="mim2gene_medgen"} ! LYRM4 @@ -284440,8 +284298,8 @@ synonym: "congenital disorder of glycosylation, type Iw" RELATED [MONDO:Lexical, synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" EXACT [OMIM:615596, OMIM:genemap2] synonym: "STT3A-CDG" EXACT CLINGEN_PREFERRED [] xref: DOID:0080572 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:370921/attributed", source="ORDO:370921/ntbt", source="Orphanet:370921"} -xref: OMIM:615596 {source="MONDO:equivalentTo", source="ORDO:370921/e", source="Orphanet:370921"} +xref: ICD10CM:E77.8 {source="Orphanet:370921/attributed", source="Orphanet:370921/ntbt", source="Orphanet:370921"} +xref: OMIM:615596 {source="Orphanet:370921/e", source="MONDO:equivalentTo", source="Orphanet:370921"} xref: Orphanet:370921 {source="MONDO:equivalentTo", source="OMIM:615596"} xref: SCTID:733111000 {source="MONDO:equivalentTo"} xref: UMLS:C3810062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615596"} @@ -284468,9 +284326,9 @@ synonym: "congenital disorder of glycosylation type 1x" EXACT [Orphanet:370924] synonym: "congenital disorder of glycosylation type IX" EXACT [Orphanet:370924] synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical, OMIM:615597] xref: DOID:0080573 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="Orphanet:370924", source="ORDO:370924/attributed", source="ORDO:370924/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:370924", source="Orphanet:370924/attributed", source="Orphanet:370924/ntbt"} xref: MESH:C535751 {source="MONDO:equivalentTo"} -xref: OMIM:615597 {source="Orphanet:370924", source="ORDO:370924/e", source="MONDO:equivalentTo"} +xref: OMIM:615597 {source="Orphanet:370924", source="MONDO:equivalentTo", source="Orphanet:370924/e"} xref: Orphanet:370924 {source="OMIM:615597", source="MONDO:equivalentTo"} xref: SCTID:733112007 {source="MONDO:equivalentTo"} xref: UMLS:C2931007 {source="Orphanet:370924", source="MONDO:equivalentTo"} @@ -284492,8 +284350,8 @@ synonym: "palmoplantar hyperkeratosis, Nagashima type" EXACT [Orphanet:140966] synonym: "palmoplantar keratoderma, Nagashima type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:615598] synonym: "PPK, Nagashima type" EXACT [Orphanet:140966] synonym: "PPKN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615598] -xref: ICD10CM:Q82.8 {source="ORDO:140966/attributed", source="ORDO:140966/ntbt", source="Orphanet:140966"} -xref: OMIM:615598 {source="MONDO:equivalentTo", source="ORDO:140966/e", source="Orphanet:140966"} +xref: ICD10CM:Q82.8 {source="Orphanet:140966/attributed", source="Orphanet:140966/ntbt", source="Orphanet:140966"} +xref: OMIM:615598 {source="Orphanet:140966/e", source="MONDO:equivalentTo", source="Orphanet:140966"} xref: Orphanet:140966 {source="OMIM:615598", source="MONDO:equivalentTo"} xref: SCTID:722205008 {source="MONDO:equivalentTo"} xref: UMLS:C3810072 {source="OMIM:615598", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -284514,8 +284372,8 @@ synonym: "mental retardation, autosomal recessive 40" RELATED DEPRECATED [MONDO: synonym: "mental retardation, autosomal recessive type 40" EXACT DEPRECATED [MONDORULE:2, OMIM:615599] synonym: "microcephaly-thin corpus callosum-intellectual disability syndrome" EXACT CLINGEN_PREFERRED [] synonym: "MRT40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599] -xref: ICD10CM:Q87.8 {source="ORDO:397951/attributed", source="ORDO:397951/ntbt", source="Orphanet:397951"} -xref: OMIM:615599 {source="ORDO:397951/e", source="MONDO:equivalentTo", source="Orphanet:397951"} +xref: ICD10CM:Q87.8 {source="Orphanet:397951", source="Orphanet:397951/attributed", source="Orphanet:397951/ntbt"} +xref: OMIM:615599 {source="MONDO:equivalentTo", source="Orphanet:397951", source="Orphanet:397951/e"} xref: Orphanet:397951 {source="OMIM:615599", source="MONDO:equivalentTo"} xref: UMLS:C3810080 {source="OMIM:615599", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397951", source="indirect"} ! syndromic intellectual disability @@ -284532,7 +284390,7 @@ subset: ordo_biological_anomaly {source="Orphanet:440731"} synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604] synonym: "L-ferritin deficiency, dominant and recessive" EXACT [OMIM:615604, OMIM:genemap2] synonym: "LFTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615604] -xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="ORDO:440731/e"} +xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="Orphanet:440731/e"} xref: Orphanet:440731 {source="MONDO:equivalentTo"} xref: UMLS:C3810090 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615604"} is_a: MONDO:0005570 {source="Orphanet:440731"} ! hematologic disorder @@ -284553,7 +284411,7 @@ synonym: "FRTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615605] xref: OMIM:615605 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="MONDO:subClassOf", source="OMIM:615605"} xref: UMLS:C3810100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615605"} -is_a: MONDO:0007600 {source="ORDO:3337/btnt"} ! primary Fanconi syndrome +is_a: MONDO:0007600 {source="Orphanet:3337/btnt"} ! primary Fanconi syndrome is_a: MONDO:0100238 {source="MONDO:Redundant", source="OMIM:615605", source="indirect"} ! inherited Fanconi renotubular syndrome intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3247 ! EHHADH @@ -284578,8 +284436,8 @@ synonym: "immunodeficiency type 17" EXACT [MONDORULE:2, OMIM:615607] synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" RELATED [OMIM:615607] xref: DOID:0060018 {source="MONDO:equivalentTo"} xref: GARD:0009521 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.2 {source="ORDO:169082/attributed", source="ORDO:169082/ntbt", source="Orphanet:169082"} -xref: OMIM:615607 {source="MONDO:equivalentTo", source="ORDO:169082/e", source="Orphanet:169082"} +xref: ICD10CM:D81.2 {source="Orphanet:169082", source="Orphanet:169082/attributed", source="Orphanet:169082/ntbt"} +xref: OMIM:615607 {source="MONDO:equivalentTo", source="Orphanet:169082", source="Orphanet:169082/e"} xref: Orphanet:169082 {source="MONDO:equivalentTo", source="OMIM:615607"} xref: SCTID:725135004 {source="MONDO:equivalentTo"} xref: UMLS:C2025557 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009521"} @@ -284620,7 +284478,7 @@ xref: Orphanet:169160 {source="MONDO:subClassOf", source="OMIM:615615"} xref: UMLS:C3810127 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615615"} xref: UMLS:C3810128 {source="OMIM:615615", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3810129 {source="OMIM:615615", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015703 {source="MONDO:cjm", source="ORDO:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta +is_a: MONDO:0015703 {source="MONDO:cjm", source="Orphanet:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta is_a: MONDO:0015974 {source="DOID:0060017"} ! severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1674 {source="mim2gene_medgen"} ! CD3E @@ -284650,7 +284508,7 @@ xref: DOID:0060016 {source="MONDO:equivalentTo"} xref: OMIM:615617 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="MONDO:subClassOf", source="OMIM:615617"} xref: UMLS:C3810147 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615617"} -is_a: MONDO:0015703 {source="MONDO:cjm", source="ORDO:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta +is_a: MONDO:0015703 {source="MONDO:cjm", source="Orphanet:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta is_a: MONDO:0015974 {source="DOID:0060016", source="MONDO:Redundant", source="indirect"} ! severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency intersection_of: MONDO:0015974 ! severe combined immunodeficiency @@ -284667,7 +284525,7 @@ synonym: "cholangiocarcinoma, susceptibility to" EXACT [OMIM:615619] xref: OMIM:615619 {source="MONDO:equivalentTo"} xref: Orphanet:70567 {source="MONDO:subClassOf", source="OMIM:615619"} xref: UMLS:C3810156 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:615619"} -is_a: MONDO:0019087 {source="ORDO:70567/btnt"} ! cholangiocarcinoma +is_a: MONDO:0019087 {source="Orphanet:70567/btnt"} ! cholangiocarcinoma property_value: confidence "5.0" xsd:double [Term] @@ -284685,8 +284543,8 @@ synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625, OMIM:g synonym: "spastic paraplegia 72, autosomal recessive" NARROW [OMIM:615625, OMIM:genemap2] synonym: "SPG72" EXACT ABBREVIATION [DOID:0110817, OMIM:615625, Orphanet:401849] xref: DOID:0110817 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:401849/attributed", source="ORDO:401849/ntbt", source="DOID:0110817", source="Orphanet:401849"} -xref: OMIM:615625 {source="MONDO:equivalentTo", source="DOID:0110817", source="ORDO:401849/e", source="Orphanet:401849"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110817", source="Orphanet:401849/attributed", source="Orphanet:401849/ntbt", source="Orphanet:401849"} +xref: OMIM:615625 {source="Orphanet:401849/e", source="MONDO:equivalentTo", source="DOID:0110817", source="Orphanet:401849"} xref: Orphanet:401849 {source="MONDO:equivalentTo", source="OMIM:615625", source="DOID:0110817"} xref: UMLS:C3810160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615625"} xref: UMLS:C3810161 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:615625"} @@ -284705,8 +284563,7 @@ synonym: "autosomal dominant deafness 56" NARROW [DOID:0110581] synonym: "autosomal dominant nonsyndromic deafness 56" NARROW [OMIM:615629] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TNC" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 56" NARROW [DOID:0110581, MONDORULE:2] -synonym: "deafness, autosomal dominant 56" NARROW [OMIM:615629, OMIM:genemap2] -synonym: "deafness, autosomal dominant 56" NARROW [MONDO:Lexical, OMIM:615629] +synonym: "deafness, autosomal dominant 56" NARROW [MONDO:Lexical, OMIM:615629, OMIM:genemap2] synonym: "deafness, autosomal dominant type 56" NARROW [MONDORULE:2, OMIM:615629] synonym: "DFNA56" NARROW ABBREVIATION [DOID:0110581, MONDO:Lexical, OMIM:615629] synonym: "TNC autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -284751,7 +284608,7 @@ xref: OMIM:615631 {source="MONDO:equivalentTo"} xref: Orphanet:98869 {source="MONDO:subClassOf", source="OMIM:615631"} xref: UMLS:C3810185 {source="OMIM:615631", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:615631", source="indirect"} ! congenital dyserythropoietic anemia -is_a: MONDO:0020337 {source="ORDO:98869/btnt"} ! congenital dyserythropoietic anemia type 1 +is_a: MONDO:0020337 {source="Orphanet:98869/btnt"} ! congenital dyserythropoietic anemia type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26929 {source="mim2gene_medgen"} ! CDIN1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -284774,7 +284631,7 @@ xref: DOID:0070154 {source="MONDO:equivalentTo"} xref: OMIM:615632 {source="DOID:0070154", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:subClassOf", source="OMIM:615632"} xref: UMLS:C3810194 {source="OMIM:615632", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018213 {source="DOID:0070154", source="MONDO:Redundant", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070154", source="MONDO:Redundant", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24526 ! ATL3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24526 {source="mim2gene_medgen"} ! ATL3 @@ -284792,7 +284649,7 @@ xref: Orphanet:474 {source="MONDO:subClassOf", source="OMIM:615633"} xref: Orphanet:93271 {source="MONDO:subClassOf", source="OMIM:615633"} xref: UMLS:C3810200 {source="OMIM:615633", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018770 {source="DOID:0110095", source="OMIM:615633"} ! Jeune syndrome -is_a: MONDO:0019664 {source="ORDO:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type +is_a: MONDO:0019664 {source="Orphanet:93271/btnt"} ! short rib-polydactyly syndrome, Verma-Naumoff type relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28296 {source="mim2gene_medgen"} ! DYNC2I2 property_value: confidence "0.7173913043478257" xsd:double @@ -284827,8 +284684,8 @@ synonym: "intellectual disability, autosomal recessive type 41" EXACT [MONDORULE synonym: "mental retardation, autosomal recessive 41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] synonym: "mental retardation, autosomal recessive type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:615637] synonym: "MRT41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] -xref: ICD10CM:Q75.3 {source="ORDO:397612/attributed", source="ORDO:397612/ntbt", source="Orphanet:397612"} -xref: OMIM:615637 {source="MONDO:equivalentTo", source="ORDO:397612/e", source="Orphanet:397612"} +xref: ICD10CM:Q75.3 {source="Orphanet:397612", source="Orphanet:397612/attributed", source="Orphanet:397612/ntbt"} +xref: OMIM:615637 {source="MONDO:equivalentTo", source="Orphanet:397612", source="Orphanet:397612/e"} xref: Orphanet:397612 {source="MONDO:equivalentTo", source="OMIM:615637"} xref: UMLS:C3810225 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615637"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397612", source="indirect"} ! syndromic intellectual disability @@ -284852,8 +284709,8 @@ synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643] xref: DOID:0110740 {source="MONDO:equivalentTo"} xref: GARD:0012571 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G23.0 {source="ORDO:397725/attributed", source="ORDO:397725/ntbt", source="Orphanet:397725", source="DOID:0110740"} -xref: OMIM:615643 {source="MONDO:equivalentTo", source="Orphanet:397725", source="ORDO:397725/e", source="DOID:0110740"} +xref: ICD10CM:G23.0 {source="Orphanet:397725", source="Orphanet:397725/attributed", source="Orphanet:397725/ntbt", source="DOID:0110740"} +xref: OMIM:615643 {source="Orphanet:397725/e", source="MONDO:equivalentTo", source="Orphanet:397725", source="DOID:0110740"} xref: Orphanet:397725 {source="OMIM:615643", source="MONDO:equivalentTo", source="DOID:0110740"} xref: SCTID:732264002 {source="MONDO:equivalentTo"} xref: UMLS:C3810230 {source="OMIM:615643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -284870,8 +284727,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 54" NARROW [DOID:0110580] synonym: "autosomal dominant nonsyndromic deafness 54" NARROW [OMIM:615649] synonym: "autosomal dominant nonsyndromic deafness type 54" NARROW [DOID:0110580, MONDORULE:2] -synonym: "deafness, autosomal dominant 54" NARROW [MONDO:Lexical, OMIM:615649] -synonym: "deafness, autosomal dominant 54" NARROW [OMIM:615649, OMIM:genemap2] +synonym: "deafness, autosomal dominant 54" NARROW [MONDO:Lexical, OMIM:615649, OMIM:genemap2] synonym: "DFNA54" NARROW ABBREVIATION [DOID:0110580, MONDO:Lexical, OMIM:615649] xref: DOID:0110580 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110580"} @@ -284888,9 +284744,9 @@ name: leukoencephalopathy with mild cerebellar ataxia and white matter edema subset: ordo_disease {source="Orphanet:363540"} synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical, OMIM:615651] synonym: "LKPAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615651] -xref: ICD10CM:E75.2 {source="Orphanet:363540", source="ORDO:363540/attributed", source="ORDO:363540/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:363540", source="Orphanet:363540/attributed", source="Orphanet:363540/ntbt"} xref: NCIT:C171603 {source="MONDO:equivalentTo"} -xref: OMIM:615651 {source="Orphanet:363540", source="ORDO:363540/e", source="MONDO:equivalentTo"} +xref: OMIM:615651 {source="Orphanet:363540", source="MONDO:equivalentTo", source="Orphanet:363540/e"} xref: Orphanet:363540 {source="MONDO:equivalentTo", source="OMIM:615651"} xref: SCTID:768663003 {source="MONDO:equivalentTo"} xref: UMLS:C3810242 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:615651"} @@ -284905,8 +284761,7 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var synonym: "autosomal dominant deafness 58" NARROW [DOID:0110582] synonym: "autosomal dominant nonsyndromic deafness 58" NARROW [OMIM:615654] synonym: "autosomal dominant nonsyndromic deafness type 58" NARROW [DOID:0110582, MONDORULE:2] -synonym: "deafness, autosomal dominant 58" NARROW [MONDO:Lexical, OMIM:615654] -synonym: "deafness, autosomal dominant 58" NARROW [OMIM:615654, OMIM:genemap2] +synonym: "deafness, autosomal dominant 58" NARROW [MONDO:Lexical, OMIM:615654, OMIM:genemap2] synonym: "DFNA58" NARROW ABBREVIATION [DOID:0110582, MONDO:Lexical, OMIM:615654] xref: DOID:0110582 {source="MONDO:equivalentTo"} xref: ICD10CM:H90.3 {source="DOID:0110582"} @@ -284932,11 +284787,11 @@ synonym: "Del(15)(q11.2)" EXACT [Orphanet:261183] synonym: "monosomy 15q11.2" EXACT [Orphanet:261183] xref: DOID:0060393 {source="MONDO:equivalentTo"} xref: GARD:0010525 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:261183", source="ORDO:261183/attributed", source="ORDO:261183/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261183", source="Orphanet:261183/attributed", source="Orphanet:261183/ntbt"} xref: MESH:C557830 {source="DOID:0060393"} -xref: OMIM:615656 {source="Orphanet:261183", source="ORDO:261183/e", source="MONDO:equivalentTo", source="DOID:0060393"} +xref: OMIM:615656 {source="Orphanet:261183", source="MONDO:equivalentTo", source="Orphanet:261183/e", source="DOID:0060393"} xref: Orphanet:261183 {source="OMIM:615656", source="MONDO:equivalentTo", source="DOID:0060393"} -xref: UMLS:C3180937 {source="Orphanet:261183", source="ORDO:261183/e", source="MONDO:equivalentTo", source="DOID:0060393"} +xref: UMLS:C3180937 {source="Orphanet:261183", source="MONDO:equivalentTo", source="Orphanet:261183/e", source="DOID:0060393"} xref: UMLS:C3810258 {source="NCBI:mim2gene_medline", source="OMIM:615656", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000761 {source="DC-OMIM:615656", source="DOID:0060393"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0016913 {source="Orphanet:261183"} ! partial deletion of the long arm of chromosome 15 @@ -284960,8 +284815,8 @@ synonym: "SPG57" EXACT ABBREVIATION [DOID:0110809, MONDO:Lexical, OMIM:615658, O synonym: "TFG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110809 {source="MONDO:equivalentTo"} xref: EFO:0009017 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:431329/attributed", source="ORDO:431329/ntbt", source="Orphanet:431329", source="DOID:0110809"} -xref: OMIM:615658 {source="MONDO:equivalentTo", source="ORDO:431329/e", source="Orphanet:431329", source="DOID:0110809"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:431329/attributed", source="Orphanet:431329/ntbt", source="Orphanet:431329", source="DOID:0110809"} +xref: OMIM:615658 {source="Orphanet:431329/e", source="MONDO:equivalentTo", source="Orphanet:431329", source="DOID:0110809"} xref: Orphanet:431329 {source="MONDO:equivalentTo", source="OMIM:615658", source="DOID:0110809"} xref: SCTID:723826007 {source="MONDO:equivalentTo"} xref: UMLS:C3714897 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615658"} @@ -285023,7 +284878,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:439822"} synonym: "chromosome 5q12 deletion syndrome" EXACT [OMIM:615668] synonym: "PDE4D haploinsufficiency syndrome" RELATED [Orphanet:439822] xref: DOID:0060421 {source="MONDO:equivalentTo"} -xref: OMIM:615668 {source="Orphanet:439822", source="DOID:0060421", source="MONDO:equivalentTo", source="ORDO:439822/nd"} +xref: OMIM:615668 {source="Orphanet:439822", source="Orphanet:439822/nd", source="DOID:0060421", source="MONDO:equivalentTo"} xref: Orphanet:439822 {source="MONDO:equivalentTo"} xref: UMLS:C3810282 {source="OMIM:615668", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:439822", source="indirect"} ! syndromic intellectual disability @@ -285047,7 +284902,7 @@ synonym: "SWNTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615670] xref: OMIM:615670 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="MONDO:subClassOf", source="OMIM:615670"} xref: UMLS:C3810283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615670"} -is_a: MONDO:0008075 {source="OMIM:615670", source="ORDO:93921/btnt"} ! neurofibromatosis type 3 +is_a: MONDO:0008075 {source="OMIM:615670", source="Orphanet:93921/btnt"} ! neurofibromatosis type 3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6742 {source="mim2gene_medgen"} ! LZTR1 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:615670"} ! Autosomal dominant inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -285062,8 +284917,8 @@ synonym: "MPXPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615673] synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical, OMIM:615673] xref: DOID:0111335 {source="MONDO:equivalentTo"} xref: GARD:0012978 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.3 {source="ORDO:401768/attributed", source="ORDO:401768/ntbt", source="Orphanet:401768"} -xref: OMIM:615673 {source="ORDO:401768/e", source="MONDO:equivalentTo", source="Orphanet:401768"} +xref: ICD10CM:G71.3 {source="Orphanet:401768", source="Orphanet:401768/attributed", source="Orphanet:401768/ntbt"} +xref: OMIM:615673 {source="MONDO:equivalentTo", source="Orphanet:401768", source="Orphanet:401768/e"} xref: Orphanet:401768 {source="MONDO:equivalentTo", source="OMIM:615673"} xref: UMLS:C3810285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615673"} is_a: MONDO:0005395 ! movement disorder @@ -285082,7 +284937,7 @@ xref: OMIM:615674 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="MONDO:subClassOf", source="OMIM:615674"} xref: UMLS:C3810286 {source="OMIM:615674", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615674", source="indirect"} ! reticulate pigment disorder -is_a: MONDO:0008371 {source="ORDO:79145/btnt"} ! Dowling-Degos disease +is_a: MONDO:0008371 {source="Orphanet:79145/btnt"} ! Dowling-Degos disease property_value: confidence "1.323033492822967" xsd:double [Term] @@ -285098,8 +284953,8 @@ synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE: synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681] synonym: "SPG62" EXACT ABBREVIATION [DOID:0110813, OMIM:615681, Orphanet:401785] xref: DOID:0110813 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401785", source="DOID:0110813", source="ORDO:401785/attributed", source="ORDO:401785/ntbt"} -xref: OMIM:615681 {source="Orphanet:401785", source="ORDO:401785/e", source="DOID:0110813", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401785", source="DOID:0110813", source="Orphanet:401785/attributed", source="Orphanet:401785/ntbt"} +xref: OMIM:615681 {source="Orphanet:401785", source="DOID:0110813", source="MONDO:equivalentTo", source="Orphanet:401785/e"} xref: Orphanet:401785 {source="DOID:0110813", source="MONDO:equivalentTo"} xref: SCTID:765045003 {source="MONDO:equivalentTo"} xref: UMLS:C4284588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285123,8 +284978,8 @@ synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE: synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683] synonym: "SPG64" EXACT ABBREVIATION [DOID:0110815, MONDO:Lexical, OMIM:615683, Orphanet:401810] xref: DOID:0110815 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401810", source="DOID:0110815", source="ORDO:401810/attributed", source="ORDO:401810/ntbt"} -xref: OMIM:615683 {source="ORDO:401810/e", source="Orphanet:401810", source="DOID:0110815", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401810/attributed", source="Orphanet:401810/ntbt", source="Orphanet:401810", source="DOID:0110815"} +xref: OMIM:615683 {source="Orphanet:401810", source="DOID:0110815", source="MONDO:equivalentTo", source="Orphanet:401810/e"} xref: Orphanet:401810 {source="DOID:0110815", source="MONDO:equivalentTo", source="OMIM:615683"} xref: SCTID:726609005 {source="MONDO:equivalentTo"} xref: UMLS:C3810289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615683"} @@ -285150,8 +285005,8 @@ synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE: synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615685] synonym: "SPG61" EXACT ABBREVIATION [DOID:0110812, MONDO:Lexical, OMIM:615685, Orphanet:401780] xref: DOID:0110812 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:401780/attributed", source="ORDO:401780/ntbt", source="DOID:0110812", source="Orphanet:401780"} -xref: OMIM:615685 {source="DOID:0110812", source="MONDO:equivalentTo", source="ORDO:401780/e", source="Orphanet:401780"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110812", source="Orphanet:401780/attributed", source="Orphanet:401780/ntbt", source="Orphanet:401780"} +xref: OMIM:615685 {source="Orphanet:401780/e", source="DOID:0110812", source="MONDO:equivalentTo", source="Orphanet:401780"} xref: Orphanet:401780 {source="OMIM:615685", source="DOID:0110812", source="MONDO:equivalentTo"} xref: SCTID:726611001 {source="MONDO:equivalentTo"} xref: UMLS:C3810294 {source="OMIM:615685", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285177,8 +285032,8 @@ synonym: "spastic paraplegia 63" EXACT [DOID:0110814] synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615686] synonym: "SPG63" EXACT ABBREVIATION [DOID:0110814, MONDO:Lexical, OMIM:615686, Orphanet:401805] xref: DOID:0110814 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:401805/attributed", source="ORDO:401805/ntbt", source="DOID:0110814", source="Orphanet:401805"} -xref: OMIM:615686 {source="MONDO:equivalentTo", source="DOID:0110814", source="ORDO:401805/e", source="Orphanet:401805"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110814", source="Orphanet:401805/attributed", source="Orphanet:401805/ntbt", source="Orphanet:401805"} +xref: OMIM:615686 {source="Orphanet:401805/e", source="MONDO:equivalentTo", source="DOID:0110814", source="Orphanet:401805"} xref: Orphanet:401805 {source="OMIM:615686", source="MONDO:equivalentTo", source="DOID:0110814"} xref: SCTID:726610000 {source="MONDO:equivalentTo"} xref: UMLS:C3810295 {source="OMIM:615686", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285203,8 +285058,8 @@ synonym: "polyarteritis nodosa, childhood-onset" EXACT [MONDO:Lexical, OMIM:6156 synonym: "vasculitis due to DADA2" EXACT [Orphanet:404553] synonym: "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" EXACT [OMIM:615688, OMIM:genemap2] xref: GARD:0012383 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M30.8 {source="Orphanet:404553", source="ORDO:404553/attributed", source="ORDO:404553/ntbt"} -xref: OMIM:615688 {source="MONDO:equivalentTo", source="Orphanet:404553", source="ORDO:404553/e"} +xref: ICD10CM:M30.8 {source="Orphanet:404553/attributed", source="Orphanet:404553/ntbt", source="Orphanet:404553"} +xref: OMIM:615688 {source="Orphanet:404553/e", source="MONDO:equivalentTo", source="Orphanet:404553"} xref: Orphanet:404553 {source="OMIM:615688", source="MONDO:equivalentTo"} xref: UMLS:C0031036 {source="OMIM:615688", source="MONDO:relatedTo", source="NCBI:mim2gene_medline"} is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:404553"} ! vascular disorder @@ -285228,7 +285083,7 @@ xref: OMIM:615696 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="MONDO:subClassOf", source="OMIM:615696"} xref: UMLS:C3810313 {source="OMIM:615696", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615696", source="indirect"} ! reticulate pigment disorder -is_a: MONDO:0008371 {source="MONDO:Redundant", source="ORDO:79145/btnt"} ! Dowling-Degos disease +is_a: MONDO:0008371 {source="MONDO:Redundant", source="Orphanet:79145/btnt"} ! Dowling-Degos disease intersection_of: MONDO:0008371 ! Dowling-Degos disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22954 ! POGLUT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22954 {source="mim2gene_medgen"} ! POGLUT1 @@ -285247,7 +285102,7 @@ xref: OMIM:615697 {source="MONDO:equivalentTo", source="DOID:0060749"} xref: Orphanet:163717 {source="MONDO:subClassOf", source="OMIM:615697", source="DOID:0060749"} xref: UMLS:C3810320 {source="OMIM:615697", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005115 {source="OMIM:615697"} ! temporal lobe epilepsy -is_a: MONDO:0015586 {source="ORDO:163717/btnt"} ! benign familial mesial temporal lobe epilepsy +is_a: MONDO:0015586 {source="Orphanet:163717/btnt"} ! benign familial mesial temporal lobe epilepsy property_value: confidence "0.26984126984127" xsd:double [Term] @@ -285256,8 +285111,8 @@ name: obesity due to CEP19 deficiency subset: ordo_disease {source="Orphanet:397615"} synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical, OMIM:615703] synonym: "MOSPGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615703] -xref: ICD10CM:E66.8 {source="ORDO:397615/attributed", source="ORDO:397615/ntbt", source="Orphanet:397615"} -xref: OMIM:615703 {source="MONDO:equivalentTo", source="Orphanet:397615", source="ORDO:397615/e"} +xref: ICD10CM:E66.8 {source="Orphanet:397615", source="Orphanet:397615/attributed", source="Orphanet:397615/ntbt"} +xref: OMIM:615703 {source="Orphanet:397615/e", source="MONDO:equivalentTo", source="Orphanet:397615"} xref: Orphanet:397615 {source="MONDO:equivalentTo", source="OMIM:615703"} xref: UMLS:C3810324 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615703"} is_a: MONDO:0020075 {source="Orphanet:397615"} ! genetic non-syndromic obesity @@ -285278,8 +285133,8 @@ synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involve synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615704] synonym: "POIKTMP syndrome" EXACT [Orphanet:221043] xref: GARD:0013218 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:221043", source="ORDO:221043/attributed", source="ORDO:221043/ntbt"} -xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="ORDO:221043/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:221043", source="Orphanet:221043/attributed", source="Orphanet:221043/ntbt"} +xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="Orphanet:221043/e"} xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"} xref: UMLS:C3810325 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615704"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:221043", source="Orphanet:221043/inferred"} ! respiratory system disorder @@ -285306,8 +285161,8 @@ synonym: "SCAR15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615705, Orphanet:40449 synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705] synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:615705] xref: DOID:0080057 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:404499/attributed", source="ORDO:404499/ntbt", source="Orphanet:404499"} -xref: OMIM:615705 {source="DOID:0080057", source="MONDO:equivalentTo", source="ORDO:404499/e", source="Orphanet:404499"} +xref: ICD10CM:G11.1 {source="Orphanet:404499/attributed", source="Orphanet:404499/ntbt", source="Orphanet:404499"} +xref: OMIM:615705 {source="DOID:0080057", source="Orphanet:404499/e", source="MONDO:equivalentTo", source="Orphanet:404499"} xref: Orphanet:404499 {source="MONDO:equivalentTo", source="OMIM:615705"} xref: UMLS:C3810326 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615705"} is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:404499"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome @@ -285339,8 +285194,8 @@ synonym: "CD16 deficiency" EXACT [Orphanet:437552] synonym: "IMD20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615707] synonym: "immunodeficiency 20" RELATED [MONDO:Lexical, OMIM:615707] synonym: "immunodeficiency type 20" EXACT [MONDORULE:2, OMIM:615707] -xref: ICD10CM:D84.8 {source="ORDO:437552/attributed", source="ORDO:437552/ntbt", source="Orphanet:437552"} -xref: OMIM:615707 {source="MONDO:equivalentTo", source="ORDO:437552/e", source="Orphanet:437552"} +xref: ICD10CM:D84.8 {source="Orphanet:437552/attributed", source="Orphanet:437552/ntbt", source="Orphanet:437552"} +xref: OMIM:615707 {source="Orphanet:437552/e", source="MONDO:equivalentTo", source="Orphanet:437552"} xref: Orphanet:437552 {source="MONDO:equivalentTo"} xref: UMLS:C3810342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615707"} is_a: MONDO:0015135 {source="MONDO:0018545-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary immunodeficiency due to a genetic defect in innate immunity @@ -285353,8 +285208,8 @@ name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent n subset: ordo_malformation_syndrome {source="Orphanet:397927"} synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical, OMIM:615709] synonym: "SAVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615709] -xref: ICD10CM:Q87.5 {source="ORDO:397927/attributed", source="ORDO:397927/ntbt", source="Orphanet:397927"} -xref: OMIM:615709 {source="MONDO:equivalentTo", source="Orphanet:397927", source="ORDO:397927/e"} +xref: ICD10CM:Q87.5 {source="Orphanet:397927/attributed", source="Orphanet:397927/ntbt", source="Orphanet:397927"} +xref: OMIM:615709 {source="Orphanet:397927/e", source="MONDO:equivalentTo", source="Orphanet:397927"} xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"} xref: UMLS:C3810343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615709"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect @@ -285401,8 +285256,8 @@ synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical, OMIM:615715] synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1, OMIM:615715] synonym: "pancytopenia-developmental delay syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Trilineage bone marrow failure-developmental delay syndrome" EXACT [Orphanet:401764] -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:401764", source="ORDO:401764/attributed", source="ORDO:401764/ntbt"} -xref: OMIM:615715 {source="ORDO:401764/e", source="Orphanet:401764", source="MONDO:equivalentTo"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:401764/attributed", source="Orphanet:401764/ntbt", source="Orphanet:401764"} +xref: OMIM:615715 {source="Orphanet:401764", source="MONDO:equivalentTo", source="Orphanet:401764/e"} xref: Orphanet:401764 {source="MONDO:equivalentTo", source="OMIM:615715"} xref: UMLS:C3810350 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615715"} is_a: MONDO:0000159 {source="DC-OMIM:615715", source="OMIM:615715"} ! bone marrow failure syndrome @@ -285425,7 +285280,7 @@ synonym: "PGAP3 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO xref: OMIM:615716 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:615716"} xref: UMLS:C3810354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615716"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:615716", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:615716", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23719 ! PGAP3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23719 {source="mim2gene_medgen"} ! PGAP3 @@ -285443,7 +285298,7 @@ synonym: "RHDA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615721] xref: OMIM:615721 {source="MONDO:equivalentTo"} xref: Orphanet:411709 {source="MONDO:subClassOf", source="OMIM:615721"} xref: UMLS:C3810359 {source="OMIM:615721", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018470 {source="MONDO:Redundant", source="OMIM:615721", source="ORDO:411709/btnt"} ! renal agenesis +is_a: MONDO:0018470 {source="MONDO:Redundant", source="OMIM:615721", source="Orphanet:411709/btnt"} ! renal agenesis intersection_of: MONDO:0018470 ! renal agenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3677 ! FGF20 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3677 {source="mim2gene_medgen"} ! FGF20 @@ -285457,8 +285312,8 @@ subset: ordo_disease {source="Orphanet:401777"} synonym: "BBSOAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615722] synonym: "Bosch-Boonstra-Schaaf optic atrophy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "optic atrophy-intellectual disability syndrome" EXACT [Orphanet:401777] -xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="Orphanet:401777", source="ORDO:401777/attributed", source="ORDO:401777/ntbt"} -xref: OMIM:615722 {source="ORDO:401777/e", source="Orphanet:401777", source="MONDO:equivalentTo"} +xref: ICD10CM:H47.2 {source="Orphanet:401777/attributed", source="Orphanet:401777/ntbt", source="MONDO:relatedTo", source="Orphanet:401777"} +xref: OMIM:615722 {source="Orphanet:401777", source="MONDO:equivalentTo", source="Orphanet:401777/e"} xref: Orphanet:401777 {source="OMIM:615722", source="MONDO:equivalentTo"} xref: UMLS:C3810363 {source="NCBI:mim2gene_medline", source="OMIM:615722", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:401777"} ! syndromic intellectual disability @@ -285573,10 +285428,10 @@ xref: DOID:0110929 {source="MONDO:equivalentTo"} xref: OMIM:615731 {source="MONDO:equivalentTo", source="DOID:0110929"} xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:615731"} xref: UMLS:C3810384 {source="OMIM:615731", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy -is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy -is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy -is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy +is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy +is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy +is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy +is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110929", source="MONDO:Redundant", source="OMIM:615731", source="indirect"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16905 ! KLHL41 @@ -285590,8 +285445,8 @@ subset: ordo_disease {source="Orphanet:402003"} synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [Orphanet:402003] synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" EXACT [MONDO:Lexical, OMIM:615735] synonym: "PPKNEFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615735] -xref: ICD10CM:Q82.8 {source="ORDO:402003/attributed", source="ORDO:402003/ntbt", source="Orphanet:402003"} -xref: OMIM:615735 {source="MONDO:equivalentTo", source="Orphanet:402003", source="ORDO:402003/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:402003/attributed", source="Orphanet:402003/ntbt", source="Orphanet:402003"} +xref: OMIM:615735 {source="Orphanet:402003/e", source="MONDO:equivalentTo", source="Orphanet:402003"} xref: Orphanet:402003 {source="MONDO:equivalentTo", source="OMIM:615735"} xref: UMLS:C3810394 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615735"} is_a: MONDO:0019272 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma @@ -285622,7 +285477,7 @@ is_a: MONDO:0100062 {source="MONDO:Redundant", source="NCIT:C142802", source="OM intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 ! GABRA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 {source="mim2gene_medgen"} ! GABRA1 -relationship: excluded_subClassOf MONDO:0100135 {source="ORDO:33069/btnt"} ! Dravet syndrome +relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt"} ! Dravet syndrome relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "6.200000000000001" xsd:double @@ -285649,7 +285504,6 @@ property_value: confidence "1.1527777777777777" xsd:double [Term] id: MONDO:0014330 name: obsolete eculizumab, poor response to -synonym: "eculizumab, poor response to" EXACT [OMIM:615749] synonym: "eculizumab, poor response to" EXACT [OMIM:615749, OMIM:genemap2] xref: OMIM:615749 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C3810402 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="OMIM:615749"} @@ -285664,8 +285518,8 @@ subset: ordo_disease {source="Orphanet:401945"} synonym: "moyamoya 6 with achalasia" EXACT [OMIM:615750, OMIM:genemap2] synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical, OMIM:615750] synonym: "MYMY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615750] -xref: ICD10CM:I67.5 {source="ORDO:401945/attributed", source="ORDO:401945/ntbt", source="Orphanet:401945"} -xref: OMIM:615750 {source="MONDO:equivalentTo", source="Orphanet:401945", source="ORDO:401945/e"} +xref: ICD10CM:I67.5 {source="Orphanet:401945", source="Orphanet:401945/attributed", source="Orphanet:401945/ntbt"} +xref: OMIM:615750 {source="MONDO:equivalentTo", source="Orphanet:401945", source="Orphanet:401945/e"} xref: Orphanet:401945 {source="MONDO:equivalentTo", source="OMIM:615750"} xref: SCTID:718551002 {source="MONDO:equivalentTo"} xref: UMLS:C3810403 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615750"} @@ -285689,8 +285543,8 @@ synonym: "hyperammonemia due to carbonic anhydrase VA deficiency" RELATED [GARD: synonym: "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" EXACT CLINGEN_PREFERRED [] synonym: "mitochondrial carbonic anhydrase va deficiency" RELATED [GARD:0013201] xref: GARD:0013201 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E74.8 {source="ORDO:401948/attributed", source="ORDO:401948/ntbt", source="Orphanet:401948"} -xref: OMIM:615751 {source="MONDO:equivalentTo", source="ORDO:401948/e", source="Orphanet:401948"} +xref: ICD10CM:E74.8 {source="Orphanet:401948/attributed", source="Orphanet:401948/ntbt", source="Orphanet:401948"} +xref: OMIM:615751 {source="Orphanet:401948/e", source="MONDO:equivalentTo", source="Orphanet:401948"} xref: Orphanet:401948 {source="OMIM:615751", source="MONDO:equivalentTo"} xref: SCTID:764456001 {source="MONDO:equivalentTo"} xref: UMLS:C3810404 {source="OMIM:615751", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285710,7 +285564,7 @@ xref: OMIM:615752 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:615752"} xref: Orphanet:98889 {source="MONDO:subClassOf", source="OMIM:615752"} xref: UMLS:C3810405 {source="OMIM:615752", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020340 {source="ORDO:98889/btnt"} ! bilateral perisylvian polymicrogyria +is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4512 {source="mim2gene_medgen"} ! ADGRG1 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "0.11111111111111094" xsd:double @@ -285725,8 +285579,8 @@ synonym: "immunodeficiency type 22" EXACT [MONDORULE:2, OMIM:615758] synonym: "SCID due to LCK deficiency" EXACT [Orphanet:280142] synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] -xref: ICD10CM:D81.1 {source="ORDO:280142/attributed", source="ORDO:280142/ntbt", source="Orphanet:280142"} -xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="ORDO:280142/e"} +xref: ICD10CM:D81.1 {source="Orphanet:280142", source="Orphanet:280142/attributed", source="Orphanet:280142/ntbt"} +xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="Orphanet:280142/e"} xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"} xref: UMLS:C4014233 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017855 {source="Orphanet:280142"} ! T-B- severe combined immunodeficiency @@ -285741,8 +285595,8 @@ synonym: "diffuse cerebral and cerebellar atrophy - intractable seizures - progr synonym: "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" EXACT [OMIM:615760, OMIM:genemap2] synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:615760] synonym: "MSCCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615760] -xref: ICD10CM:G98 {source="Orphanet:404437", source="ORDO:404437/attributed", source="ORDO:404437/ntbt"} -xref: OMIM:615760 {source="ORDO:404437/e", source="Orphanet:404437", source="MONDO:equivalentTo"} +xref: ICD10CM:G98 {source="Orphanet:404437/attributed", source="Orphanet:404437/ntbt", source="Orphanet:404437"} +xref: OMIM:615760 {source="Orphanet:404437", source="MONDO:equivalentTo", source="Orphanet:404437/e"} xref: Orphanet:404437 {source="MONDO:equivalentTo", source="OMIM:615760"} xref: UMLS:C4014239 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -285766,8 +285620,8 @@ synonym: "mental retardation, autosomal dominant 23" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 23" EXACT DEPRECATED [MONDORULE:2, OMIM:615761] synonym: "MRD23" EXACT ABBREVIATION [DOID:0070053, MONDO:Lexical, OMIM:615761] xref: DOID:0070053 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:404440/attributed", source="ORDO:404440/ntbt", source="Orphanet:404440"} -xref: OMIM:615761 {source="DOID:0070053", source="MONDO:equivalentTo", source="ORDO:404440/e", source="Orphanet:404440"} +xref: ICD10CM:Q87.0 {source="Orphanet:404440/attributed", source="Orphanet:404440/ntbt", source="Orphanet:404440"} +xref: OMIM:615761 {source="DOID:0070053", source="Orphanet:404440/e", source="MONDO:equivalentTo", source="Orphanet:404440"} xref: Orphanet:404440 {source="MONDO:equivalentTo", source="OMIM:615761"} xref: UMLS:C3810406 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615761"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404440", source="indirect"} ! syndromic intellectual disability @@ -285812,7 +285666,7 @@ xref: Orphanet:238569 {source="MONDO:subClassOf", source="OMIM:615767"} xref: Orphanet:477661 {source="MONDO:equivalentTo"} xref: UMLS:C4014258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015517 {source="DC-OMIM:615767", source="OMIM:615767"} ! common variable immunodeficiency -is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is_a: MONDO:0018814 {source="Orphanet:477661"} ! non-SCID combined immunodeficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6005 {source="mim2gene_medgen"} ! IL21 property_value: confidence "0.9166666666666665" xsd:double @@ -285832,8 +285686,8 @@ synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768] synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080029 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:412057/attributed", source="ORDO:412057/ntbt", source="Orphanet:412057"} -xref: OMIM:615768 {source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057", source="ORDO:412057/e"} +xref: ICD10CM:G11.1 {source="Orphanet:412057/attributed", source="Orphanet:412057/ntbt", source="Orphanet:412057"} +xref: OMIM:615768 {source="Orphanet:412057/e", source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057"} xref: Orphanet:412057 {source="MONDO:equivalentTo", source="OMIM:615768"} xref: UMLS:C4014261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia @@ -285891,8 +285745,8 @@ synonym: "oocyte maturation defect" RELATED [MONDO:Lexical, OMIM:615774] synonym: "oocyte maturation defect 1" RELATED [OMIM:615774] synonym: "OOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615774] synonym: "OOMD1" RELATED ABBREVIATION [OMIM:615774] -xref: ICD10CM:N97.8 {source="ORDO:404466/attributed", source="ORDO:404466/ntbt", source="Orphanet:404466"} -xref: OMIM:615774 {source="MONDO:equivalentTo", source="ORDO:404466/e", source="Orphanet:404466"} +xref: ICD10CM:N97.8 {source="Orphanet:404466/attributed", source="Orphanet:404466/ntbt", source="Orphanet:404466"} +xref: OMIM:615774 {source="Orphanet:404466/e", source="MONDO:equivalentTo", source="Orphanet:404466"} xref: Orphanet:404466 {source="OMIM:615774", source="MONDO:equivalentTo"} xref: UMLS:C4014291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0014769 {source="OMIM:615774"} ! inherited oocyte maturation defect @@ -285914,7 +285768,7 @@ xref: OMIM:615777 {source="MONDO:equivalentTo"} xref: Orphanet:1425 {source="MONDO:subClassOf", source="OMIM:615777"} xref: UMLS:C3550876 {source="MONDO:equivalentObsolete", source="OMIM:300881", source="NCBI:mim2gene_medline"} xref: UMLS:C4014294 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015426 {source="DC-OMIM:615777", source="MONDO:Redundant", source="OMIM:615777", source="ORDO:1425/btnt"} ! Desbuquois dysplasia +is_a: MONDO:0015426 {source="DC-OMIM:615777", source="MONDO:Redundant", source="OMIM:615777", source="Orphanet:1425/btnt"} ! Desbuquois dysplasia intersection_of: MONDO:0015426 ! Desbuquois dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15516 ! XYLT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15516 {source="mim2gene_medgen"} ! XYLT1 @@ -285933,7 +285787,7 @@ xref: Orphanet:98722 {source="MONDO:subClassOf", source="OMIM:615779"} xref: UMLS:C4014310 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000119 {source="DC-OMIM:615779", source="MONDO:Redundant"} ! congenital heart defects, multiple types is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0020290 {source="ORDO:98722/btnt"} ! atrioventricular septal defect +is_a: MONDO:0020290 {source="Orphanet:98722/btnt"} ! atrioventricular septal defect intersection_of: MONDO:0000119 ! congenital heart defects, multiple types intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7976 ! NR2F2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7976 {source="mim2gene_medgen"} ! NR2F2 @@ -286015,8 +285869,8 @@ synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" E synonym: "PCH10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615803, Orphanet:411493] synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803] xref: DOID:0060279 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:411493/attributed", source="ORDO:411493/ntbt", source="Orphanet:411493"} -xref: OMIM:615803 {source="DOID:0060279", source="MONDO:equivalentTo", source="ORDO:411493/e", source="Orphanet:411493"} +xref: ICD10CM:Q04.3 {source="Orphanet:411493/attributed", source="Orphanet:411493/ntbt", source="Orphanet:411493"} +xref: OMIM:615803 {source="Orphanet:411493/e", source="DOID:0060279", source="MONDO:equivalentTo", source="Orphanet:411493"} xref: Orphanet:411493 {source="DOID:0060279", source="MONDO:equivalentTo", source="OMIM:615803"} xref: UMLS:C4014347 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="DC-OMIM:615803", source="DOID:0060279", source="MONDO:Redundant", source="OMIM:615803", source="Orphanet:411493"} ! pontocerebellar hypoplasia @@ -286055,8 +285909,8 @@ synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" synonym: "PCH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615809, Orphanet:369920] synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809] xref: DOID:0060278 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:369920", source="DOID:0060278", source="ORDO:369920/attributed", source="ORDO:369920/ntbt"} -xref: OMIM:615809 {source="Orphanet:369920", source="ORDO:369920/e", source="DOID:0060278", source="MONDO:equivalentTo"} +xref: ICD10CM:Q04.3 {source="Orphanet:369920", source="Orphanet:369920/attributed", source="Orphanet:369920/ntbt", source="DOID:0060278"} +xref: OMIM:615809 {source="Orphanet:369920", source="DOID:0060278", source="MONDO:equivalentTo", source="Orphanet:369920/e"} xref: Orphanet:369920 {source="DOID:0060278", source="MONDO:equivalentTo", source="OMIM:615809"} xref: UMLS:C4014354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020135 {source="DC-OMIM:615809", source="DOID:0060278", source="MONDO:Redundant", source="OMIM:615809", source="Orphanet:369920"} ! pontocerebellar hypoplasia @@ -286103,10 +285957,10 @@ synonym: "PGM3-EXACT congenital disorder of glycosylation" EXACT [Orphanet:44381 synonym: "phosphoglucomutase 3 deficiency" EXACT [GARD:0004331] synonym: "phosphoglucomutase deficiency type 3" EXACT [GARD:0004331] xref: GARD:0004331 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="ORDO:443811/attributed", source="ORDO:443811/ntbt", source="Orphanet:443811"} +xref: ICD10CM:E77.8 {source="Orphanet:443811", source="Orphanet:443811/attributed", source="Orphanet:443811/ntbt"} xref: MESH:C565684 {source="MONDO:equivalentTo"} xref: OMIM:216920 {source="MONDO:equivalentTo"} -xref: OMIM:615816 {source="MONDO:equivalentTo", source="Orphanet:443811", source="ORDO:443811/e", source="MONDO:preferredExternal"} +xref: OMIM:615816 {source="MONDO:equivalentTo", source="Orphanet:443811", source="MONDO:preferredExternal", source="Orphanet:443811/e"} xref: Orphanet:443811 {source="MONDO:equivalentTo"} xref: UMLS:C1857617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216920"} xref: UMLS:C4014371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -286146,7 +286000,7 @@ synonym: "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenes xref: OMIM:615821 {source="MONDO:equivalentTo"} xref: Orphanet:65282 {source="MONDO:subClassOf", source="OMIM:615821"} xref: UMLS:C4014393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011581 {source="ORDO:65282/btnt"} ! arrhythmogenic cardiomyopathy with woolly hair and keratoderma +is_a: MONDO:0011581 {source="Orphanet:65282/btnt"} ! arrhythmogenic cardiomyopathy with woolly hair and keratoderma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 {source="mim2gene_medgen"} ! DSP relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "2.4105263157894736" xsd:double @@ -286165,7 +286019,7 @@ xref: OMIM:615824 {source="MONDO:equivalentTo", source="DOID:0080116"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615824"} xref: UMLS:C4014408 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615824", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080116", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080116", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21237 ! UQCC2 @@ -286211,8 +286065,8 @@ synonym: "MRD25" EXACT ABBREVIATION [DOID:0070055] synonym: "Xia-Gibbs syndrome" EXACT [OMIM:615829, Orphanet:412069] xref: DOID:0070055 {source="MONDO:equivalentTo"} xref: EFO:0009015 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:412069", source="ORDO:412069/attributed", source="ORDO:412069/ntbt"} -xref: OMIM:615829 {source="Orphanet:412069", source="DOID:0070055", source="MONDO:equivalentTo", source="ORDO:412069/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:412069", source="Orphanet:412069/attributed", source="Orphanet:412069/ntbt"} +xref: OMIM:615829 {source="Orphanet:412069", source="DOID:0070055", source="MONDO:equivalentTo", source="Orphanet:412069/e"} xref: Orphanet:412069 {source="MONDO:equivalentTo", source="OMIM:615829"} xref: UMLS:C4014419 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:412069"} ! syndromic intellectual disability @@ -286259,7 +286113,7 @@ synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: DOID:0080443 {source="MONDO:equivalentTo"} xref: OMIM:615833 {source="MONDO:equivalentTo"} xref: UMLS:C4014430 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:615833", source="MONDO:Redundant", source="OMIM:615833"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24539 ! NECAP1 @@ -286283,7 +286137,7 @@ synonym: "mental retardation, autosomal dominant 26" EXACT DEPRECATED [MONDO:Lex synonym: "mental retardation, autosomal dominant type 26" EXACT DEPRECATED [MONDORULE:2, OMIM:615834] synonym: "MRD26" EXACT DEPRECATED [DOID:0070056, MONDO:Lexical, OMIM:615834] xref: DOID:0070056 {source="MONDO:equivalentTo"} -xref: OMIM:615834 {source="DOID:0070056", source="MONDO:equivalentTo", source="Orphanet:352490", source="ORDO:352490/e"} +xref: OMIM:615834 {source="DOID:0070056", source="Orphanet:352490/e", source="MONDO:equivalentTo", source="Orphanet:352490"} xref: Orphanet:352490 {source="MONDO:equivalentTo", source="OMIM:615834"} xref: UMLS:C4014435 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352490", source="indirect"} ! syndromic intellectual disability @@ -286314,8 +286168,7 @@ synonym: "autosomal recessive deafness 101" NARROW [DOID:0110462] synonym: "autosomal recessive nonsyndromic deafness 101" NARROW [OMIM:615837] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 101" NARROW [DOID:0110462, MONDORULE:2] -synonym: "deafness, autosomal recessive 101" NARROW [OMIM:615837, OMIM:genemap2] -synonym: "deafness, autosomal recessive 101" NARROW [MONDO:Lexical, OMIM:615837] +synonym: "deafness, autosomal recessive 101" NARROW [MONDO:Lexical, OMIM:615837, OMIM:genemap2] synonym: "deafness, autosomal recessive type 101" NARROW [MONDORULE:2, OMIM:615837] synonym: "DFNB101" NARROW ABBREVIATION [DOID:0110462, MONDO:Lexical, OMIM:615837] synonym: "GRXCR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -286346,7 +286199,7 @@ xref: OMIM:615838 {source="MONDO:equivalentTo", source="DOID:0080117"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615838"} xref: UMLS:C4014440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615838", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080117", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080117", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28072 ! LYRM7 @@ -286367,7 +286220,7 @@ xref: OMIM:615841 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="MONDO:subClassOf", source="OMIM:615841"} xref: UMLS:C4014449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:615841", source="MONDO:Redundant", source="OMIM:615841"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 ! TAF4B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 {source="mim2gene_medgen"} ! TAF4B @@ -286387,7 +286240,7 @@ xref: OMIM:615842 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="MONDO:subClassOf", source="OMIM:615842"} xref: UMLS:C4014454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:615842", source="MONDO:Redundant", source="OMIM:615842"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 ! ZMYND15 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 {source="mim2gene_medgen"} ! ZMYND15 @@ -286422,7 +286275,7 @@ synonym: "susceptibility to cutaneous malignant melanoma 10" RELATED [OMIM:61584 xref: OMIM:615848 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:subClassOf", source="OMIM:615848"} xref: UMLS:C4014476 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0018961 {source="MONDO:Redundant", source="ORDO:618/btnt", source="indirect"} ! familial melanoma +is_a: MONDO:0018961 {source="MONDO:Redundant", source="Orphanet:618/btnt", source="indirect"} ! familial melanoma is_a: MONDO:0020573 {source="OMIM:615848"} ! inherited disease susceptibility is_a: MONDO:0024462 {source="MONDO:Redundant", source="OMIM", source="OMIM:615848"} ! familial cutaneous melanoma intersection_of: MONDO:0024462 ! familial cutaneous melanoma @@ -286442,8 +286295,8 @@ synonym: "Pallister-Hall syndrome 2" RELATED [OMIM:615849] synonym: "Pallister-Hall syndrome 2, formerly" RELATED [OMIM:615849] xref: DOID:0080328 {source="MONDO:equivalentTo"} xref: GARD:0013349 {source="DOID:0080328"} -xref: ICD10CM:Q87.8 {source="Orphanet:420584", source="ORDO:420584/attributed", source="ORDO:420584/ntbt"} -xref: OMIM:615849 {source="Orphanet:420584", source="ORDO:420584/e", source="MONDO:equivalentTo", source="DOID:0080328"} +xref: ICD10CM:Q87.8 {source="Orphanet:420584", source="Orphanet:420584/attributed", source="Orphanet:420584/ntbt"} +xref: OMIM:615849 {source="Orphanet:420584", source="MONDO:equivalentTo", source="Orphanet:420584/e", source="DOID:0080328"} xref: Orphanet:420584 {source="MONDO:equivalentTo", source="OMIM:615849"} xref: UMLS:C4014479 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0080328"} ! autosomal dominant disease @@ -286467,7 +286320,7 @@ xref: DOID:0060271 {source="MONDO:equivalentTo"} xref: OMIM:615851 {source="MONDO:equivalentTo", source="DOID:0060271"} xref: Orphanet:247198 {source="MONDO:subClassOf", source="OMIM:615851"} xref: UMLS:C4014488 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016589 {source="ORDO:247198/btnt"} ! progressive cerebello-cerebral atrophy +is_a: MONDO:0016589 {source="Orphanet:247198/btnt"} ! progressive cerebello-cerebral atrophy is_a: MONDO:0020135 {source="DC-OMIM:615851", source="DOID:0060271", source="MONDO:Redundant", source="OMIM:615851"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25608 ! VPS53 @@ -286487,8 +286340,8 @@ synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism synonym: "epileptic encephalopathy, early infantile, 23" EXACT [MONDO:Lexical, OMIM:615859] synonym: "epileptic encephalopathy, early infantile, type 23" EXACT [MONDORULE:2, OMIM:615859] xref: DOID:0080415 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="Orphanet:411986", source="ORDO:411986/attributed", source="ORDO:411986/ntbt"} -xref: OMIM:615859 {source="Orphanet:411986", source="ORDO:411986/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.4 {source="Orphanet:411986/attributed", source="Orphanet:411986/ntbt", source="Orphanet:411986"} +xref: OMIM:615859 {source="Orphanet:411986", source="MONDO:equivalentTo", source="Orphanet:411986/e"} xref: Orphanet:411986 {source="MONDO:equivalentTo", source="OMIM:615859"} xref: UMLS:C4014492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source="indirect"} ! syndromic intellectual disability @@ -286572,8 +286425,8 @@ synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7, protein-losing enteropathy type" EXACT [OMIM:615863, OMIM:genemap2] synonym: "diarrhea type 7" EXACT [MONDORULE:1, OMIM:615863] xref: DOID:0060778 {source="MONDO:equivalentTo"} -xref: ICD10CM:P78.3 {source="ORDO:329242/attributed", source="ORDO:329242/ntbt", source="DOID:0060778", source="Orphanet:329242"} -xref: OMIM:615863 {source="MONDO:equivalentTo", source="ORDO:329242/e", source="DOID:0060778", source="Orphanet:329242"} +xref: ICD10CM:P78.3 {source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/attributed", source="Orphanet:329242/ntbt"} +xref: OMIM:615863 {source="MONDO:equivalentTo", source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/e"} xref: Orphanet:329242 {source="OMIM:615863", source="MONDO:equivalentTo", source="DOID:0060778"} xref: UMLS:C4014516 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000824 {source="DC-OMIM:615863", source="DOID:0060778", source="MONDO:Redundant", source="OMIM:615863"} ! congenital diarrhea @@ -286604,7 +286457,7 @@ xref: DOID:0070057 {source="MONDO:equivalentTo"} xref: OMIM:615866 {source="DOID:0070057", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:subClassOf", source="OMIM:615866"} xref: UMLS:C4014528 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015452 {source="ORDO:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11191 {source="mim2gene_medgen"} ! SOX11 relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070057"} ! autosomal dominant non-syndromic intellectual disability relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -286624,7 +286477,7 @@ synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: DOID:0080429 {source="MONDO:equivalentTo"} xref: OMIM:615871 {source="MONDO:equivalentTo"} xref: UMLS:C4014531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:615871", source="MONDO:Redundant", source="OMIM:615871"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4845 ! HCN1 @@ -286670,8 +286523,8 @@ synonym: "mental retardation, autosomal dominant 28" RELATED DEPRECATED [OMIM:61 synonym: "MRD28" EXACT ABBREVIATION [DOID:0070058] xref: DOID:0070058 {source="MONDO:equivalentTo"} xref: GARD:0012931 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:404448", source="ORDO:404448/attributed", source="ORDO:404448/ntbt"} -xref: OMIM:615873 {source="ORDO:404448/e", source="Orphanet:404448", source="DOID:0070058", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:404448/attributed", source="Orphanet:404448/ntbt", source="Orphanet:404448"} +xref: OMIM:615873 {source="Orphanet:404448", source="DOID:0070058", source="MONDO:equivalentTo", source="Orphanet:404448/e"} xref: Orphanet:404448 {source="OMIM:615873", source="MONDO:equivalentTo"} xref: SCTID:766824003 {source="MONDO:equivalentTo"} xref: UMLS:C4014538 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286695,8 +286548,8 @@ synonym: "microphthalmia, syndromic 14" RELATED [MONDO:Lexical, OMIM:615877] synonym: "microphthalmia, syndromic type 14" EXACT [MONDORULE:2, OMIM:615877] synonym: "microphthalmia-coloboma-rhizomelic skeletal dysplasia" EXACT [Orphanet:424099] synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" RELATED [OMIM:615877] -xref: ICD10CM:Q87.5 {source="ORDO:424099/attributed", source="ORDO:424099/ntbt", source="Orphanet:424099"} -xref: OMIM:615877 {source="MONDO:equivalentTo", source="ORDO:424099/e", source="Orphanet:424099"} +xref: ICD10CM:Q87.5 {source="Orphanet:424099/attributed", source="Orphanet:424099/ntbt", source="Orphanet:424099"} +xref: OMIM:615877 {source="Orphanet:424099/e", source="MONDO:equivalentTo", source="Orphanet:424099"} xref: Orphanet:424099 {source="MONDO:equivalentTo"} xref: UMLS:C4014540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016073 {source="DC-OMIM:615877", source="OMIM:615877", source="Orphanet:424099"} ! syndromic microphthalmia @@ -286727,7 +286580,7 @@ xref: Orphanet:480483 {source="MONDO:equivalentTo", source="DOID:0070224"} xref: Orphanet:79304 {source="OMIM:615878", source="MONDO:directSiblingOf"} xref: UMLS:C2931067 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN776838 {source="MONDO:equivalentTo"} -is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:615878", source="ORDO:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis +is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:615878", source="Orphanet:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11828 ! TJP2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11828 {source="mim2gene_medgen"} ! TJP2 @@ -286742,8 +286595,8 @@ synonym: "tall stature-intellectual disability-facial dysmorphism syndrome" EXAC synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT [Orphanet:404443] synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical, OMIM:615879] synonym: "TBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615879] -xref: ICD10CM:Q87.3 {source="Orphanet:404443", source="ORDO:404443/attributed", source="ORDO:404443/ntbt"} -xref: OMIM:615879 {source="MONDO:equivalentTo", source="Orphanet:404443", source="ORDO:404443/e"} +xref: ICD10CM:Q87.3 {source="Orphanet:404443/attributed", source="Orphanet:404443/ntbt", source="Orphanet:404443"} +xref: OMIM:615879 {source="Orphanet:404443/e", source="MONDO:equivalentTo", source="Orphanet:404443"} xref: Orphanet:404443 {source="MONDO:equivalentTo", source="OMIM:615879"} xref: SCTID:768843007 {source="MONDO:equivalentTo"} xref: UMLS:C4014545 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286765,7 +286618,7 @@ synonym: "tubular aggregate myopathy caused by mutation in ORAI1" EXACT [MONDO:d xref: OMIM:615883 {source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="MONDO:subClassOf", source="OMIM:615883"} xref: UMLS:C4014557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:615883", source="ORDO:2593/btnt"} ! tubular aggregate myopathy +is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:615883", source="Orphanet:2593/btnt"} ! tubular aggregate myopathy intersection_of: MONDO:0008051 ! tubular aggregate myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25896 ! ORAI1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25896 {source="mim2gene_medgen"} ! ORAI1 @@ -286786,7 +286639,7 @@ xref: OMIM:615885 {source="MONDO:equivalentTo", source="DOID:0110709"} xref: Orphanet:55654 {source="MONDO:subClassOf", source="OMIM:615885"} xref: UMLS:C4014563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DOID:0110709", source="MONDO:Redundant", source="OMIM:615885", source="indirect"} ! hypotrichosis -is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex +is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10313 ! RPL21 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10313 {source="mim2gene_medgen"} ! RPL21 @@ -286809,7 +286662,7 @@ xref: OMIM:615887 {source="MONDO:equivalentTo", source="DOID:0110063"} xref: Orphanet:100033 {source="MONDO:subClassOf", source="OMIM:615887"} xref: UMLS:C4014578 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110063", source="MONDO:Redundant", source="OMIM:615887", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10978 ! SLC24A4 @@ -286830,8 +286683,8 @@ synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGR synonym: "platelet-type bleeding disorder 18" EXACT CLINGEN_PREFERRED [] synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111051 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.1 {source="Orphanet:420566", source="ORDO:420566/attributed", source="ORDO:420566/ntbt", source="DOID:0111051"} -xref: OMIM:615888 {source="Orphanet:420566", source="ORDO:420566/e", source="MONDO:equivalentTo", source="DOID:0111051"} +xref: ICD10CM:D69.1 {source="Orphanet:420566/attributed", source="Orphanet:420566/ntbt", source="Orphanet:420566", source="DOID:0111051"} +xref: OMIM:615888 {source="Orphanet:420566", source="MONDO:equivalentTo", source="DOID:0111051", source="Orphanet:420566/e"} xref: Orphanet:420566 {source="OMIM:615888", source="MONDO:equivalentTo", source="DOID:0111051"} xref: UMLS:C4014584 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:615888", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:615888", source="indirect"} ! inherited bleeding disorder, platelet-type @@ -286848,7 +286701,7 @@ synonym: "leukoencephalopathy, progressive, with ovarian failure" EXACT CLINGEN_ synonym: "LKENP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615889] xref: OMIM:615889 {source="MONDO:equivalentTo"} xref: UMLS:C4014588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020506 {source="ORDO:99853/btnt"} ! ovarioleukodystrophy +is_a: MONDO:0020506 {source="Orphanet:99853/btnt"} ! ovarioleukodystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21022 {source="mim2gene_medgen"} ! AARS2 property_value: confidence "11.952380952380949" xsd:double @@ -286859,8 +286712,8 @@ def: "Familial median cleft of the upper and lower lips is a rare and isolated o subset: ordo_malformation_syndrome {source="Orphanet:401942"} synonym: "OFC14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615892] synonym: "orofacial cleft 14" RELATED [MONDO:Lexical, OMIM:615892] -xref: ICD10CM:Q36.1 {source="Orphanet:401942", source="ORDO:401942/attributed", source="ORDO:401942/ntbt"} -xref: OMIM:615892 {source="ORDO:401942/e", source="Orphanet:401942", source="MONDO:equivalentTo"} +xref: ICD10CM:Q36.1 {source="Orphanet:401942/attributed", source="Orphanet:401942/ntbt", source="Orphanet:401942"} +xref: OMIM:615892 {source="Orphanet:401942", source="MONDO:equivalentTo", source="Orphanet:401942/e"} xref: Orphanet:401942 {source="MONDO:equivalentTo", source="OMIM:615892"} xref: UMLS:C4014596 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000358 {source="DC-OMIM:615892"} ! orofacial cleft @@ -286877,8 +286730,8 @@ synonym: "PGBM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615895, Orphanet:397937 synonym: "polyglucosan body myopathy 1 with or without immunodeficiency" EXACT [MONDO:Lexical, OMIM:615895] synonym: "polyglucosan body myopathy type 1" EXACT [MONDO:0018348] synonym: "polyglucosan body myopathy, early-onset, with or without immunodeficiency" EXACT [OMIM:615895] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:397937/attributed", source="ORDO:397937/ntbt", source="Orphanet:397937"} -xref: OMIM:615895 {source="MONDO:equivalentTo", source="ORDO:397937/ntbt", source="Orphanet:397937"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:397937/attributed", source="Orphanet:397937/ntbt", source="Orphanet:397937"} +xref: OMIM:615895 {source="MONDO:equivalentTo", source="Orphanet:397937/ntbt", source="Orphanet:397937"} xref: Orphanet:329173 {source="OMIM:615895", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:397937 {source="OMIM:615895", source="MONDO:equivalentTo", source="MONDO:superClassOf"} xref: UMLS:C4014605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286907,7 +286760,7 @@ xref: OMIM:615896 {source="DOID:0110710", source="MONDO:equivalentTo"} xref: Orphanet:170 {source="MONDO:subClassOf", source="OMIM:615896"} xref: UMLS:C4014616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003037 {source="DC-OMIM:615896", source="DOID:0110710", source="MONDO:Redundant", source="OMIM:615896", source="indirect"} ! hypotrichosis -is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! isolated familial woolly hair disorder +is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial woolly hair disorder intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28927 ! KRT71 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28927 {source="mim2gene_medgen"} ! KRT71 @@ -286922,8 +286775,8 @@ synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615897] synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897] synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897] synonym: "SCID due to CTPS1 deficiency" EXACT [Orphanet:420573] -xref: ICD10CM:D81.2 {source="Orphanet:420573", source="ORDO:420573/attributed", source="ORDO:420573/ntbt"} -xref: OMIM:615897 {source="Orphanet:420573", source="ORDO:420573/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D81.2 {source="Orphanet:420573", source="Orphanet:420573/attributed", source="Orphanet:420573/ntbt"} +xref: OMIM:615897 {source="Orphanet:420573", source="MONDO:equivalentTo", source="Orphanet:420573/e"} xref: Orphanet:420573 {source="OMIM:615897", source="MONDO:equivalentTo"} xref: SCTID:763623001 {source="MONDO:equivalentTo"} xref: UMLS:C4014617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286951,7 +286804,7 @@ xref: GARD:0012901 {source="MONDO:equivalentTo"} xref: OMIM:615905 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="MONDO:subClassOf", source="GARD:0012901"} xref: UMLS:C4014621 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:615905", source="MONDO:Redundant", source="OMIM:615905"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23089 ! SLC13A5 @@ -286973,7 +286826,7 @@ xref: DOID:0070209 {source="MONDO:equivalentTo"} xref: OMIM:615907 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:subClassOf", source="OMIM:615907"} xref: UMLS:C4014628 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} -is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:615907", source="ORDO:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:615907", source="Orphanet:79452/btnt"} ! lymphatic malformation intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12682 ! VEGFC relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12682 {source="mim2gene_medgen"} ! VEGFC @@ -287008,7 +286861,7 @@ xref: OMIM:615911 {source="MONDO:equivalentTo", source="DOID:0060214"} xref: Orphanet:275872 {source="MONDO:subClassOf", source="OMIM:615911"} xref: UMLS:C4014648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:615911"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:615911", source="ORDO:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:615911", source="Orphanet:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:615911"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15559 {source="mim2gene_medgen"} ! CHCHD10 property_value: confidence "0.028571428571429136" xsd:double @@ -287045,8 +286898,8 @@ synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORUL synonym: "COXPD20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615917, Orphanet:420728] synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111478 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="Orphanet:420728", source="ORDO:420728/attributed", source="ORDO:420728/ntbt"} -xref: OMIM:615917 {source="MONDO:equivalentTo", source="Orphanet:420728", source="ORDO:420728/e"} +xref: ICD10CM:G31.8 {source="Orphanet:420728/attributed", source="Orphanet:420728/ntbt", source="Orphanet:420728"} +xref: OMIM:615917 {source="Orphanet:420728/e", source="MONDO:equivalentTo", source="Orphanet:420728"} xref: Orphanet:420728 {source="MONDO:equivalentTo", source="OMIM:615917"} xref: UMLS:C4014660 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:615917", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency @@ -287069,8 +286922,8 @@ synonym: "COXPD21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615918, Orphanet:4207 synonym: "TARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111465 {source="MONDO:equivalentTo"} xref: EFO:0009032 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:420733/attributed", source="ORDO:420733/ntbt", source="Orphanet:420733"} -xref: OMIM:615918 {source="MONDO:equivalentTo", source="Orphanet:420733", source="ORDO:420733/e"} +xref: ICD10CM:E88.8 {source="Orphanet:420733", source="Orphanet:420733/attributed", source="Orphanet:420733/ntbt"} +xref: OMIM:615918 {source="MONDO:equivalentTo", source="Orphanet:420733", source="Orphanet:420733/e"} xref: Orphanet:420733 {source="MONDO:equivalentTo", source="OMIM:615918"} xref: SCTID:763211004 {source="MONDO:equivalentTo"} xref: UMLS:C4014668 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287090,8 +286943,8 @@ synonym: "ataxia-telangiectasia-like disorder 2" EXACT [MONDO:Lexical, OMIM:6159 synonym: "ataxia-telangiectasia-like disorder type 2" EXACT [MONDORULE:1, OMIM:615919] synonym: "ATLD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615919] synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" RELATED [Orphanet:438134] -xref: ICD10CM:G11.3 {source="ORDO:438134/attributed", source="ORDO:438134/ntbt", source="Orphanet:438134"} -xref: OMIM:615919 {source="MONDO:equivalentTo", source="Orphanet:438134", source="ORDO:438134/e"} +xref: ICD10CM:G11.3 {source="Orphanet:438134", source="Orphanet:438134/attributed", source="Orphanet:438134/ntbt"} +xref: OMIM:615919 {source="Orphanet:438134/e", source="MONDO:equivalentTo", source="Orphanet:438134"} xref: Orphanet:438134 {source="MONDO:equivalentTo"} xref: UMLS:C4014676 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:438134"} ! syndromic intellectual disability @@ -287133,7 +286986,7 @@ synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical, OMIM: synonym: "Miura type epiphyseal chondrodysplasia" RELATED [DOID:0070316] synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [Orphanet:329191] xref: DOID:0070316 {source="MONDO:equivalentTo"} -xref: OMIM:615923 {source="Orphanet:329191", source="ORDO:329191/e", source="MONDO:equivalentTo"} +xref: OMIM:615923 {source="Orphanet:329191", source="MONDO:equivalentTo", source="Orphanet:329191/e"} xref: Orphanet:329191 {source="MONDO:equivalentTo", source="OMIM:615923"} xref: UMLS:C4014690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin @@ -287147,8 +287000,8 @@ subset: ordo_disease {source="Orphanet:363400"} synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical, OMIM:615924] synonym: "PELD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615924] synonym: "severe neurodegenerative syndrome due to BSCL2 deficiency" EXACT [Orphanet:363400] -xref: ICD10CM:G31.8 {source="ORDO:363400/attributed", source="ORDO:363400/ntbt", source="Orphanet:363400"} -xref: OMIM:615924 {source="ORDO:363400/e", source="MONDO:equivalentTo", source="Orphanet:363400"} +xref: ICD10CM:G31.8 {source="Orphanet:363400", source="Orphanet:363400/attributed", source="Orphanet:363400/ntbt"} +xref: OMIM:615924 {source="MONDO:equivalentTo", source="Orphanet:363400", source="Orphanet:363400/e"} xref: Orphanet:363400 {source="MONDO:equivalentTo", source="OMIM:615924"} xref: UMLS:C4014700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020087 {source="Orphanet:363400"} ! genetic lipodystrophy @@ -287165,8 +287018,8 @@ synonym: "GHDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615925] synonym: "ghrelin receptor deficiency" EXACT [Orphanet:314811] synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical, OMIM:615925] synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [Orphanet:314811] -xref: ICD10CM:E34.3 {source="Orphanet:314811", source="ORDO:314811/attributed", source="ORDO:314811/ntbt"} -xref: OMIM:615925 {source="ORDO:314811/e", source="Orphanet:314811", source="MONDO:equivalentTo"} +xref: ICD10CM:E34.3 {source="Orphanet:314811/attributed", source="Orphanet:314811/ntbt", source="Orphanet:314811"} +xref: OMIM:615925 {source="Orphanet:314811", source="MONDO:equivalentTo", source="Orphanet:314811/e"} xref: Orphanet:314811 {source="MONDO:equivalentTo", source="OMIM:615925"} xref: SCTID:766817004 {source="MONDO:equivalentTo"} xref: UMLS:C1858656 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -287197,9 +287050,9 @@ synonym: "SAVI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615934, Orphanet:425120] synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical, OMIM:615934] xref: DOID:0111457 {source="MONDO:equivalentTo"} xref: GARD:0012357 {source="MONDO:equivalentTo"} -xref: ICD10CM:M35.8 {source="ORDO:425120/attributed", source="ORDO:425120/ntbt", source="Orphanet:425120"} +xref: ICD10CM:M35.8 {source="Orphanet:425120/attributed", source="Orphanet:425120/ntbt", source="Orphanet:425120"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:615934 {source="MONDO:equivalentTo", source="ORDO:425120/e", source="Orphanet:425120"} +xref: OMIM:615934 {source="Orphanet:425120/e", source="MONDO:equivalentTo", source="Orphanet:425120"} xref: Orphanet:425120 {source="MONDO:equivalentTo"} xref: SCTID:711164003 {source="MONDO:equivalentTo"} xref: UMLS:C4014722 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287226,7 +287079,7 @@ synonym: "PTF1A pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns xref: OMIM:615935 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="MONDO:subClassOf", source="OMIM:615935"} xref: UMLS:C4014737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:615935", source="ORDO:2805/btnt"} ! pancreatic agenesis +is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:615935", source="Orphanet:2805/btnt"} ! pancreatic agenesis intersection_of: MONDO:0009832 ! pancreatic agenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23734 ! PTF1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23734 {source="mim2gene_medgen"} ! PTF1A @@ -287297,8 +287150,8 @@ synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical, OMIM:615945] synonym: "spinocerebellar ataxia with altered vertical eye movements" EXACT [Orphanet:363710] xref: DOID:0050984 {source="MONDO:equivalentTo"} xref: GARD:0012368 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:363710/attributed", source="ORDO:363710/ntbt", source="Orphanet:363710"} -xref: OMIM:615945 {source="DOID:0050984", source="MONDO:equivalentTo", source="ORDO:363710/e", source="Orphanet:363710"} +xref: ICD10CM:G11.8 {source="Orphanet:363710", source="Orphanet:363710/attributed", source="Orphanet:363710/ntbt"} +xref: OMIM:615945 {source="DOID:0050984", source="MONDO:equivalentTo", source="Orphanet:363710", source="Orphanet:363710/e"} xref: Orphanet:363710 {source="MONDO:equivalentTo", source="OMIM:615945"} xref: SCTID:719301002 {source="MONDO:equivalentTo"} xref: UMLS:C3889636 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287333,7 +287186,7 @@ xref: Orphanet:411 {source="OMIM:615947"} xref: Orphanet:535458 {source="MONDO:equivalentTo"} xref: UMLS:C4014767 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001336 {source="DC-OMIM:615947", source="indirect"} ! familial hyperlipidemia -is_a: MONDO:0018637 {source="ORDO:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome +is_a: MONDO:0018637 {source="Orphanet:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome intersection_of: MONDO:0001336 ! familial hyperlipidemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24945 ! GPIHBP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24945 {source="Orphanet:535458", source="mim2gene_medgen"} ! GPIHBP1 @@ -287353,8 +287206,8 @@ synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948] synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern] synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948] synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948] -xref: ICD10CM:Q87.0 {source="Orphanet:434179", source="ORDO:434179/inclusion", source="ORDO:434179/ntbt"} -xref: OMIM:615948 {source="Orphanet:434179", source="MONDO:equivalentTo", source="ORDO:434179/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:434179", source="Orphanet:434179/ntbt", source="Orphanet:434179/inclusion"} +xref: OMIM:615948 {source="Orphanet:434179", source="MONDO:equivalentTo", source="Orphanet:434179/e"} xref: Orphanet:434179 {source="MONDO:equivalentTo", source="OMIM:615948"} xref: SCTID:763837007 {source="MONDO:equivalentTo"} xref: UMLS:C4014780 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287377,8 +287230,8 @@ synonym: "ADMIO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615952] synonym: "ADMIO1" RELATED ABBREVIATION [OMIM:615952] synonym: "autoimmune disease, multisystem, infantile-onset" RELATED [MONDO:Lexical, OMIM:615952] synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [OMIM:615952] -xref: ICD10CM:M35.8 {source="ORDO:438159/attributed", source="ORDO:438159/ntbt", source="Orphanet:438159"} -xref: OMIM:615952 {source="MONDO:equivalentTo", source="ORDO:438159/e", source="Orphanet:438159"} +xref: ICD10CM:M35.8 {source="Orphanet:438159/attributed", source="Orphanet:438159/ntbt", source="Orphanet:438159"} +xref: OMIM:615952 {source="Orphanet:438159/e", source="MONDO:equivalentTo", source="Orphanet:438159"} xref: Orphanet:438159 {source="MONDO:equivalentTo"} xref: UMLS:C4014795 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000213 {source="DC-OMIM:615952", source="OMIM:615952"} ! autoimmune disease, multisystem, infantile-onset @@ -287393,7 +287246,6 @@ property_value: confidence "2.692307692307693" xsd:double [Term] id: MONDO:0014415 name: kallikrein, decreased urinary activity of -synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953] synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953, OMIM:genemap2] xref: MESH:C563653 {source="MONDO:equivalentTo"} xref: OMIM:615953 {source="MONDO:equivalentTo"} @@ -287417,7 +287269,7 @@ xref: DOID:0111624 {source="MONDO:equivalentTo"} xref: OMIM:615954 {source="MONDO:equivalentTo"} xref: Orphanet:189427 {source="MONDO:subClassOf", source="OMIM:615954"} xref: UMLS:C4014803 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009049 {source="MONDO:Redundant", source="ORDO:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia +is_a: MONDO:0009049 {source="MONDO:Redundant", source="Orphanet:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25781 ! ARMC5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25781 {source="mim2gene_medgen"} ! ARMC5 @@ -287435,8 +287287,8 @@ synonym: "spinocerebellar ataxia type 38" EXACT [MONDORULE:2, OMIM:615957] xref: DOID:0050985 {source="MONDO:equivalentTo"} xref: EFO:0009056 {source="MONDO:equivalentTo"} xref: GARD:0012369 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="ORDO:423296/attributed", source="ORDO:423296/ntbt", source="Orphanet:423296"} -xref: OMIM:615957 {source="MONDO:equivalentTo", source="DOID:0050985", source="ORDO:423296/e", source="Orphanet:423296"} +xref: ICD10CM:G11.8 {source="Orphanet:423296/attributed", source="Orphanet:423296/ntbt", source="Orphanet:423296"} +xref: OMIM:615957 {source="Orphanet:423296/e", source="MONDO:equivalentTo", source="DOID:0050985", source="Orphanet:423296"} xref: Orphanet:423296 {source="MONDO:equivalentTo", source="OMIM:615957"} xref: SCTID:734021001 {source="MONDO:equivalentTo"} xref: UMLS:C4014812 {source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} @@ -287460,7 +287312,7 @@ xref: DOID:0111222 {source="MONDO:equivalentTo"} xref: OMIM:615959 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="MONDO:subClassOf", source="OMIM:615959"} xref: UMLS:C4014814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015705 {source="MONDO:Redundant", source="ORDO:169186/btnt"} ! autosomal recessive centronuclear myopathy +is_a: MONDO:0015705 {source="MONDO:Redundant", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:615959", source="indirect"} ! centronuclear myopathy intersection_of: MONDO:0015705 ! autosomal recessive centronuclear myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16901 ! SPEG @@ -287477,8 +287329,8 @@ synonym: "ataxia - intellectual disability - oculomotor apraxia - cerebellar cys synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical, OMIM:615960] synonym: "Poretti-Boltshauser syndrome" EXACT [Orphanet:370022] synonym: "PTBHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615960] -xref: ICD10CM:G11.1 {source="ORDO:370022/attributed", source="ORDO:370022/ntbt", source="Orphanet:370022"} -xref: OMIM:615960 {source="ORDO:370022/e", source="MONDO:equivalentTo", source="Orphanet:370022"} +xref: ICD10CM:G11.1 {source="Orphanet:370022", source="Orphanet:370022/attributed", source="Orphanet:370022/ntbt"} +xref: OMIM:615960 {source="MONDO:equivalentTo", source="Orphanet:370022", source="Orphanet:370022/e"} xref: Orphanet:370022 {source="OMIM:615960", source="MONDO:equivalentTo"} xref: UMLS:C4014821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:370022"} ! syndromic intellectual disability @@ -287497,8 +287349,8 @@ subset: ordo_disease {source="Orphanet:140941"} synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical, OMIM:615961] synonym: "acid-labile subunit, deficiency of" EXACT [OMIM:615961, OMIM:genemap2] synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615961] -xref: ICD10CM:E34.3 {source="ORDO:140941/attributed", source="ORDO:140941/ntbt", source="Orphanet:140941"} -xref: OMIM:615961 {source="MONDO:equivalentTo", source="Orphanet:140941", source="ORDO:140941/e"} +xref: ICD10CM:E34.3 {source="Orphanet:140941", source="Orphanet:140941/attributed", source="Orphanet:140941/ntbt"} +xref: OMIM:615961 {source="Orphanet:140941/e", source="MONDO:equivalentTo", source="Orphanet:140941"} xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"} xref: SCTID:721074002 {source="MONDO:equivalentTo"} xref: UMLS:C3900122 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287520,9 +287372,9 @@ synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962] synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962] synonym: "Grl deficiency" RELATED [OMIM:615962] xref: GARD:0002499 {source="MONDO:equivalentTo"} -xref: ICD10CM:E25.8 {source="Orphanet:786", source="ORDO:786/attributed", source="ORDO:786/ntbt"} +xref: ICD10CM:E25.8 {source="Orphanet:786", source="Orphanet:786/attributed", source="Orphanet:786/ntbt"} xref: MESH:C564221 {source="MONDO:equivalentTo"} -xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="ORDO:786/e"} +xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="Orphanet:786/e"} xref: Orphanet:786 {source="OMIM:615962", source="MONDO:equivalentTo"} xref: UMLS:C1841971 {source="GARD:0002499", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1841972 {source="Orphanet:786", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287544,7 +287396,7 @@ synonym: "VUR8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615963] xref: OMIM:615963 {source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:subClassOf", source="OMIM:615963"} xref: UMLS:C4014831 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615963", source="ORDO:289365/btnt", source="indirect"} ! familial vesicoureteral reflux +is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615963", source="Orphanet:289365/btnt", source="indirect"} ! familial vesicoureteral reflux intersection_of: MONDO:0017329 ! familial vesicoureteral reflux intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11976 ! TNXB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11976 {source="mim2gene_medgen"} ! TNXB @@ -287559,8 +287411,8 @@ synonym: "IMD26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615966] synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615966] synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [OMIM:615966, OMIM:genemap2] synonym: "SCID due to DNA-PKcs deficiency" EXACT [Orphanet:317425] -xref: ICD10CM:D81.1 {source="Orphanet:317425", source="ORDO:317425/attributed", source="ORDO:317425/ntbt"} -xref: OMIM:615966 {source="Orphanet:317425", source="MONDO:equivalentTo", source="ORDO:317425/e"} +xref: ICD10CM:D81.1 {source="Orphanet:317425", source="Orphanet:317425/attributed", source="Orphanet:317425/ntbt"} +xref: OMIM:615966 {source="Orphanet:317425", source="MONDO:equivalentTo", source="Orphanet:317425/e"} xref: Orphanet:317425 {source="MONDO:equivalentTo", source="OMIM:615966"} xref: SCTID:716871006 {source="MONDO:equivalentTo"} xref: UMLS:C4014833 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287578,7 +287430,7 @@ subset: ordo_biological_anomaly {source="Orphanet:168612"} synonym: "AFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615969] synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical, OMIM:615969] xref: MESH:C566300 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:615969 {source="MONDO:obsoleteEquivalent", source="ORDO:168612/e", source="Orphanet:168612"} +xref: OMIM:615969 {source="MONDO:obsoleteEquivalent", source="Orphanet:168612", source="Orphanet:168612/e"} xref: Orphanet:168612 {source="MONDO:obsoleteEquivalent", source="OMIM:615969"} xref: UMLS:C1863081 {source="MONDO:obsoleteEquivalent", source="NCBI:mim2gene_medline", source="Orphanet:168612"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/181 @@ -287595,7 +287447,7 @@ subset: ordo_biological_anomaly {source="Orphanet:168615"} synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical, OMIM:615970] synonym: "hereditary persistence of alpha-fetoprotein" EXACT [OMIM:615970, OMIM:genemap2] synonym: "HPAFP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615970] -xref: OMIM:615970 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615", source="ORDO:168615/e"} +xref: OMIM:615970 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615", source="Orphanet:168615/e"} xref: Orphanet:168615 {source="MONDO:obsoleteEquivalent", source="OMIM:615970"} xref: SCTID:716697002 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1863080 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -287619,7 +287471,7 @@ xref: OMIM:615972 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="MONDO:subClassOf", source="OMIM:615972"} xref: UMLS:C4014848 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005514 {source="DC-OMIM:615972", source="MONDO:Redundant"} ! nanophthalmia -is_a: MONDO:0021129 {source="MONDO:Redundant", source="OMIM:615972", source="ORDO:35612/btnt", source="indirect"} ! microphthalmia +is_a: MONDO:0021129 {source="MONDO:Redundant", source="OMIM:615972", source="Orphanet:35612/btnt", source="indirect"} ! microphthalmia intersection_of: MONDO:0005514 ! nanophthalmia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24529 ! TMEM98 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24529 {source="mim2gene_medgen"} ! TMEM98 @@ -287650,8 +287502,7 @@ synonym: "autosomal recessive deafness 102" NARROW [DOID:0110463] synonym: "autosomal recessive nonsyndromic deafness 102" NARROW CLINGEN_PREFERRED [OMIM:615974] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 102" NARROW [DOID:0110463, MONDORULE:2] -synonym: "deafness, autosomal recessive 102" NARROW [MONDO:Lexical, OMIM:615974] -synonym: "deafness, autosomal recessive 102" NARROW [OMIM:615974, OMIM:genemap2] +synonym: "deafness, autosomal recessive 102" NARROW [MONDO:Lexical, OMIM:615974, OMIM:genemap2] synonym: "deafness, autosomal recessive type 102" NARROW [MONDORULE:2, OMIM:615974] synonym: "DFNB102" NARROW ABBREVIATION [DOID:0110463, MONDO:Lexical, OMIM:615974] synonym: "EPS8 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -287683,8 +287534,8 @@ synonym: "immunodeficiency 27B" EXACT [MONDO:Lexical, OMIM:615978] synonym: "immunodeficiency 27B, mycobacteriosis, AD" EXACT [OMIM:615978, OMIM:genemap2] synonym: "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" EXACT [OMIM:615978] synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4, OMIM:615978] -xref: ICD10CM:D84.8 {source="Orphanet:319581", source="ORDO:319581/attributed", source="ORDO:319581/ntbt"} -xref: OMIM:615978 {source="Orphanet:319581", source="ORDO:319581/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D84.8 {source="Orphanet:319581/attributed", source="Orphanet:319581/ntbt", source="Orphanet:319581"} +xref: OMIM:615978 {source="Orphanet:319581", source="MONDO:equivalentTo", source="Orphanet:319581/e"} xref: Orphanet:319581 {source="MONDO:equivalentTo", source="OMIM:615978"} xref: UMLS:C4014863 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases @@ -287724,8 +287575,8 @@ synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELAT synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical, OMIM:615980] xref: DOID:0070206 {source="MONDO:equivalentTo"} xref: GARD:0013126 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.1 {source="ORDO:435660/attributed", source="ORDO:435660/ntbt", source="Orphanet:435660"} -xref: OMIM:615980 {source="MONDO:equivalentTo", source="ORDO:435660/e", source="Orphanet:435660"} +xref: ICD10CM:E88.1 {source="Orphanet:435660/attributed", source="Orphanet:435660/ntbt", source="Orphanet:435660"} +xref: OMIM:615980 {source="Orphanet:435660/e", source="MONDO:equivalentTo", source="Orphanet:435660"} xref: Orphanet:435660 {source="MONDO:equivalentTo"} xref: UMLS:C4014869 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000816 {source="DC-OMIM:615980"} ! abdominal obesity-metabolic syndrome @@ -288119,9 +287970,9 @@ subset: ordo_disease {source="Orphanet:86816"} synonym: "ANALBA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616000] synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical, OMIM:616000] xref: GARD:0013056 {source="MONDO:equivalentTo"} -xref: ICD10CM:R77.0 {source="ORDO:86816/attributed", source="ORDO:86816/ntbt", source="Orphanet:86816"} +xref: ICD10CM:R77.0 {source="Orphanet:86816", source="Orphanet:86816/attributed", source="Orphanet:86816/ntbt"} xref: NCIT:C124851 {source="MONDO:equivalentTo"} -xref: OMIM:616000 {source="MONDO:equivalentTo", source="ORDO:86816/e", source="Orphanet:86816"} +xref: OMIM:616000 {source="Orphanet:86816/e", source="MONDO:equivalentTo", source="Orphanet:86816"} xref: Orphanet:86816 {source="MONDO:equivalentTo", source="OMIM:616000"} xref: SCTID:718721006 {source="MONDO:equivalentTo"} xref: UMLS:C0878666 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -288146,7 +287997,7 @@ synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:desi xref: OMIM:616001 {source="MONDO:equivalentTo"} xref: Orphanet:180188 {source="MONDO:subClassOf", source="OMIM:616001"} xref: UMLS:C4014918 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015855 {source="MONDO:Redundant", source="OMIM:616001", source="ORDO:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia +is_a: MONDO:0015855 {source="MONDO:Redundant", source="OMIM:616001", source="Orphanet:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia intersection_of: MONDO:0015855 ! isolated congenital breast hypoplasia/aplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9670 ! PTPRF relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9670 {source="mim2gene_medgen"} ! PTPRF @@ -288187,10 +288038,10 @@ synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004] synonym: "hypodysfibrinogenemia" EXACT [OMIM:616004, OMIM:genemap2] synonym: "hypodysfibrinogenemia, congenital" RELATED [OMIM:616004] xref: GARD:0002004 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="ORDO:98881/attributed", source="ORDO:98881/ntbt", source="Orphanet:98881"} +xref: ICD10CM:D68.2 {source="Orphanet:98881/attributed", source="Orphanet:98881/ntbt", source="Orphanet:98881"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C131659 {source="MONDO:equivalentTo"} -xref: OMIM:616004 {source="GARD:0002004", source="MONDO:equivalentTo", source="ORDO:98881/e", source="Orphanet:98881"} +xref: OMIM:616004 {source="GARD:0002004", source="Orphanet:98881/e", source="MONDO:equivalentTo", source="Orphanet:98881"} xref: Orphanet:248408 {source="OMIM:616004", source="MONDO:superClassOf"} xref: Orphanet:335 {source="MONDO:subClassOf", source="OMIM:616004"} xref: Orphanet:98881 {source="OMIM:616004", source="GARD:0002004", source="MONDO:equivalentTo"} @@ -288213,7 +288064,7 @@ synonym: "immunodeficiency type 36" EXACT [MONDORULE:2, OMIM:616005] xref: OMIM:616005 {source="MONDO:equivalentTo"} xref: Orphanet:397596 {source="MONDO:subClassOf", source="OMIM:616005"} xref: UMLS:C4014934 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018338 {source="ORDO:397596/btnt"} ! activated PI3K-delta syndrome +is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8979 {source="mim2gene_medgen"} ! PIK3R1 property_value: confidence "1.1527777777777777" xsd:double @@ -288241,8 +288092,8 @@ name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearin subset: ordo_disease {source="Orphanet:436174"} synonym: "CAGSSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616007, Orphanet:436174] synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical, OMIM:616007] -xref: ICD10CM:Q87.8 {source="ORDO:436174/attributed", source="ORDO:436174/ntbt", source="Orphanet:436174"} -xref: OMIM:616007 {source="MONDO:equivalentTo", source="Orphanet:436174", source="ORDO:436174/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:436174", source="Orphanet:436174/attributed", source="Orphanet:436174/ntbt"} +xref: OMIM:616007 {source="MONDO:equivalentTo", source="Orphanet:436174", source="Orphanet:436174/e"} xref: Orphanet:436174 {source="MONDO:equivalentTo"} xref: UMLS:C4014942 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder @@ -288262,8 +288113,8 @@ name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency subset: ordo_disease {source="Orphanet:423384"} synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616022] synonym: "SCN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616022] -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="ORDO:423384/attributed", source="ORDO:423384/ntbt", source="Orphanet:423384"} -xref: OMIM:616022 {source="MONDO:equivalentTo", source="ORDO:423384/e", source="Orphanet:423384"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:423384/attributed", source="Orphanet:423384/ntbt", source="Orphanet:423384"} +xref: OMIM:616022 {source="Orphanet:423384/e", source="MONDO:equivalentTo", source="Orphanet:423384"} xref: Orphanet:423384 {source="MONDO:equivalentTo", source="OMIM:616022"} xref: UMLS:C4014954 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018542 {source="DC-OMIM:616022", source="OMIM:616022", source="Orphanet:423384", source="Orphanet:423384/inferred"} ! severe congenital neutropenia @@ -288292,7 +288143,7 @@ synonym: "PIGW hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO: xref: OMIM:616025 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:616025"} xref: UMLS:C4014958 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616025", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616025", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23213 ! PIGW relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process @@ -288334,7 +288185,7 @@ synonym: "Notch1 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616028 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:subClassOf", source="OMIM:616028"} xref: UMLS:C4014970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616028", source="ORDO:974/btnt"} ! Adams-Oliver syndrome +is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616028", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome intersection_of: MONDO:0007034 ! Adams-Oliver syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7881 ! NOTCH1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7881 {source="mim2gene_medgen"} ! NOTCH1 @@ -288349,8 +288200,8 @@ synonym: "ECTDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616029] synonym: "ectodermal dysplasia-short stature syndrome" EXACT [Orphanet:423454] synonym: "ectodermal dysplasia/short stature syndrome" RELATED [MONDO:Lexical, OMIM:616029] synonym: "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" EXACT [Orphanet:423454] -xref: ICD10CM:Q82.8 {source="Orphanet:423454", source="ORDO:423454/attributed", source="ORDO:423454/ntbt"} -xref: OMIM:616029 {source="Orphanet:423454", source="MONDO:equivalentTo", source="ORDO:423454/e"} +xref: ICD10CM:Q82.8 {source="Orphanet:423454", source="Orphanet:423454/attributed", source="Orphanet:423454/ntbt"} +xref: OMIM:616029 {source="Orphanet:423454", source="MONDO:equivalentTo", source="Orphanet:423454/e"} xref: Orphanet:423454 {source="OMIM:616029", source="MONDO:equivalentTo"} xref: UMLS:C4014987 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma @@ -288374,7 +288225,7 @@ xref: OMIM:616030 {source="MONDO:equivalentTo", source="DOID:0090081"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:616030"} xref: UMLS:C4014988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018555 {source="DOID:0090081", source="MONDO:Redundant", source="OMIM:616030", source="indirect"} ! hypogonadotropic hypogonadism -is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome +is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22788 ! FEZF1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22788 {source="mim2gene_medgen"} ! FEZF1 @@ -288419,9 +288270,9 @@ synonym: "DECRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616034] synonym: "dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] synonym: "progressive encephalopathy with leukodystrophy due to DECR deficiency" EXACT CLINGEN_PREFERRED [] xref: GARD:0010327 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="ORDO:431361/attributed", source="ORDO:431361/ntbt", source="Orphanet:431361"} +xref: ICD10CM:G31.8 {source="Orphanet:431361/attributed", source="Orphanet:431361/ntbt", source="Orphanet:431361"} xref: MESH:C565624 {source="MONDO:equivalentTo"} -xref: OMIM:616034 {source="MONDO:equivalentTo", source="ORDO:431361/e", source="Orphanet:431361"} +xref: OMIM:616034 {source="Orphanet:431361/e", source="MONDO:equivalentTo", source="Orphanet:431361"} xref: Orphanet:431361 {source="MONDO:equivalentTo", source="OMIM:616034"} xref: UMLS:C1857252 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:431361"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -288486,8 +288337,8 @@ synonym: "CMTRID" EXACT ABBREVIATION [DOID:0110203, MONDO:Lexical, OMIM:616039] synonym: "COX6A1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type D" EXACT [DOID:0110203, Orphanet:435998] xref: DOID:0110203 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110203", source="Orphanet:435998", source="ORDO:435998/attributed", source="ORDO:435998/ntbt"} -xref: OMIM:616039 {source="DOID:0110203", source="ORDO:435998/e", source="Orphanet:435998", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:435998/attributed", source="Orphanet:435998/ntbt", source="DOID:0110203", source="Orphanet:435998"} +xref: OMIM:616039 {source="DOID:0110203", source="Orphanet:435998", source="MONDO:equivalentTo", source="Orphanet:435998/e"} xref: Orphanet:435998 {source="DOID:0110203", source="MONDO:equivalentTo"} xref: UMLS:C4015029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110203/inferred", source="MONDO:Redundant", source="OMIM:616039", source="Orphanet:435998/inferred"} ! Charcot-Marie-Tooth disease @@ -288514,7 +288365,7 @@ xref: DOID:0110659 {source="MONDO:equivalentTo"} xref: OMIM:616040 {source="DOID:0110659", source="MONDO:equivalentTo"} xref: UMLS:C4015038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110659", source="MONDO:Redundant", source="OMIM:616040", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome +is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11510 ! SYT2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11510 {source="mim2gene_medgen"} ! SYT2 @@ -288530,8 +288381,7 @@ synonym: "autosomal recessive nonsyndromic deafness 103" NARROW [OMIM:616042] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 103" NARROW [DOID:0110464, MONDORULE:2] synonym: "CLIC5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 103" NARROW [OMIM:616042, OMIM:genemap2] -synonym: "deafness, autosomal recessive 103" NARROW [MONDO:Lexical, OMIM:616042] +synonym: "deafness, autosomal recessive 103" NARROW [MONDO:Lexical, OMIM:616042, OMIM:genemap2] synonym: "deafness, autosomal recessive type 103" NARROW [MONDORULE:2, OMIM:616042] synonym: "DFNB103" NARROW ABBREVIATION [DOID:0110464, MONDO:Lexical, OMIM:616042] xref: DOID:0110464 {source="MONDO:equivalentTo"} @@ -288553,8 +288403,7 @@ synonym: "autosomal dominant deafness 65" NARROW [DOID:0110586] synonym: "autosomal dominant nonsyndromic deafness 65" NARROW [OMIM:616044] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 65" NARROW [DOID:0110586, MONDORULE:2] -synonym: "deafness, autosomal dominant 65" NARROW [MONDO:Lexical, OMIM:616044] -synonym: "deafness, autosomal dominant 65" NARROW [OMIM:616044, OMIM:genemap2] +synonym: "deafness, autosomal dominant 65" NARROW [MONDO:Lexical, OMIM:616044, OMIM:genemap2] synonym: "deafness, autosomal dominant type 65" NARROW [MONDORULE:2, OMIM:616044] synonym: "DFNA65" NARROW ABBREVIATION [DOID:0110586, MONDO:Lexical, OMIM:616044] synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -288579,11 +288428,11 @@ synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913] synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913] synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143] xref: DOID:0111143 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="ORDO:254913/attributed", source="ORDO:254913/ntbt", source="Orphanet:254913"} -xref: OMIM:604273 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} -xref: OMIM:614053 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} -xref: OMIM:615228 {source="ORDO:254913/btnt", source="MONDO:superClassOf", source="Orphanet:254913"} -xref: OMIM:616045 {source="MONDO:superClassOf", source="ORDO:254913/w", source="Orphanet:254913"} +xref: ICD10CM:E88.8 {source="Orphanet:254913/attributed", source="Orphanet:254913/ntbt", source="Orphanet:254913"} +xref: OMIM:604273 {source="MONDO:superClassOf", source="Orphanet:254913/btnt", source="Orphanet:254913"} +xref: OMIM:614053 {source="MONDO:superClassOf", source="Orphanet:254913/btnt", source="Orphanet:254913"} +xref: OMIM:615228 {source="MONDO:superClassOf", source="Orphanet:254913/btnt", source="Orphanet:254913"} +xref: OMIM:616045 {source="Orphanet:254913/w", source="MONDO:superClassOf", source="Orphanet:254913"} xref: OMIMPS:604273 {source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="MONDO:equivalentTo", source="OMIM:616045"} xref: UMLS:C4015062 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -288606,8 +288455,8 @@ synonym: "NLRC4-related autoinflammatory syndrome with MAS" EXACT [Orphanet:4361 synonym: "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related macrophage activation syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related MAS" EXACT [Orphanet:436166] -xref: ICD10CM:E85.0 {source="ORDO:436166/attributed", source="ORDO:436166/ntbt", source="Orphanet:436166"} -xref: OMIM:616050 {source="MONDO:equivalentTo", source="ORDO:436166/e", source="Orphanet:436166"} +xref: ICD10CM:E85.0 {source="Orphanet:436166/attributed", source="Orphanet:436166/ntbt", source="Orphanet:436166"} +xref: OMIM:616050 {source="Orphanet:436166/e", source="MONDO:equivalentTo", source="Orphanet:436166"} xref: Orphanet:436166 {source="MONDO:equivalentTo"} xref: UMLS:C4015067 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017953 {source="Orphanet:436166"} ! hereditary periodic fever syndrome @@ -288649,8 +288498,8 @@ synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [OMIM:616052] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [DOID:0110295] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical, OMIM:616052] xref: DOID:0110295 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:352479/attributed", source="ORDO:352479/ntbt", source="DOID:0110295", source="Orphanet:352479"} -xref: OMIM:616052 {source="MONDO:equivalentTo", source="ORDO:352479/e", source="DOID:0110295", source="Orphanet:352479"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/attributed", source="Orphanet:352479/ntbt"} +xref: OMIM:616052 {source="MONDO:equivalentTo", source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/e"} xref: Orphanet:352479 {source="MONDO:equivalentTo", source="DOID:0110295", source="OMIM:616052"} xref: UMLS:C4015095 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="DC-OMIM:616052", source="OMIM:616052"} ! muscular dystrophy-dystroglycanopathy, type C @@ -288676,8 +288525,8 @@ synonym: "spinocerebellar ataxia type 40" EXACT [MONDORULE:2, OMIM:616053] xref: DOID:0050986 {source="MONDO:equivalentTo"} xref: EFO:0009057 {source="MONDO:equivalentTo"} xref: GARD:0012371 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:G11.8 {source="Orphanet:423275", source="ORDO:423275/attributed", source="ORDO:423275/ntbt"} -xref: OMIM:616053 {source="DOID:0050986", source="MONDO:equivalentTo", source="Orphanet:423275", source="ORDO:423275/e"} +xref: ICD10CM:G11.8 {source="Orphanet:423275/attributed", source="Orphanet:423275/ntbt", source="Orphanet:423275"} +xref: OMIM:616053 {source="Orphanet:423275/e", source="DOID:0050986", source="MONDO:equivalentTo", source="Orphanet:423275"} xref: Orphanet:423275 {source="MONDO:equivalentTo", source="OMIM:616053"} xref: SCTID:734020000 {source="MONDO:equivalentTo"} xref: UMLS:C4518336 {source="MONDO:equivalentTo"} @@ -288696,8 +288545,8 @@ synonym: "episodic ataxia type 8" EXACT [Orphanet:401953] synonym: "episodic ataxia with slurred speech" RELATED [Orphanet:401953] synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical, OMIM:616055] xref: DOID:0050996 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="Orphanet:401953", source="ORDO:401953/attributed", source="ORDO:401953/ntbt"} -xref: OMIM:616055 {source="ORDO:401953/e", source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996"} +xref: ICD10CM:G11.8 {source="Orphanet:401953/attributed", source="Orphanet:401953/ntbt", source="Orphanet:401953"} +xref: OMIM:616055 {source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996", source="Orphanet:401953/e"} xref: Orphanet:401953 {source="MONDO:equivalentTo", source="OMIM:616055"} xref: UMLS:C4015108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016227 {source="DOID:0050996", source="Orphanet:401953"} ! hereditary episodic ataxia @@ -288720,7 +288569,7 @@ xref: DOID:0080461 {source="MONDO:equivalentTo"} xref: GARD:0012391 {source="MONDO:equivalentTo"} xref: OMIM:616056 {source="MONDO:equivalentTo"} xref: UMLS:C4015119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616056", source="MONDO:Redundant", source="OMIM:616056"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6231 ! KCNB1 @@ -288741,7 +288590,7 @@ synonym: "MRMV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616059] xref: OMIM:616059 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="MONDO:subClassOf", source="OMIM:616059"} xref: UMLS:C4015124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016558 {source="DC-OMIM:616059", source="MONDO:Redundant", source="OMIM:616059", source="ORDO:238722/btnt"} ! familial congenital mirror movements +is_a: MONDO:0016558 {source="DC-OMIM:616059", source="MONDO:Redundant", source="OMIM:616059", source="Orphanet:238722/btnt"} ! familial congenital mirror movements intersection_of: MONDO:0016558 ! familial congenital mirror movements intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2955 ! DNAL4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2955 {source="mim2gene_medgen"} ! DNAL4 @@ -288756,7 +288605,7 @@ xref: OMIM:616063 {source="MONDO:equivalentTo"} xref: Orphanet:79152 {source="MONDO:subClassOf", source="OMIM:616063"} xref: UMLS:C4015128 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:616063", source="indirect"} ! porokeratosis -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16192 {source="mim2gene_medgen"} ! SLC17A9 property_value: confidence "1.1527777777777777" xsd:double @@ -288774,7 +288623,7 @@ xref: OMIM:616067 {source="MONDO:equivalentTo"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:616067"} xref: UMLS:C4015129 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0010765 {source="DC-OMIM:616067", source="OMIM:616067"} ! 46,XY complete gonadal dysgenesis -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16700 {source="mim2gene_medgen"} ! ZFPM2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -288791,7 +288640,7 @@ synonym: "NISBD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616069] xref: OMIM:616069 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="MONDO:subClassOf", source="OMIM:616069"} xref: UMLS:C4015130 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017411 {source="DC-OMIM:616069", source="MONDO:Redundant", source="OMIM:616069", source="ORDO:294023/btnt"} ! neonatal inflammatory skin and bowel disease +is_a: MONDO:0017411 {source="DC-OMIM:616069", source="MONDO:Redundant", source="OMIM:616069", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease intersection_of: MONDO:0017411 ! neonatal inflammatory skin and bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3236 ! EGFR relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3236 {source="mim2gene_medgen"} ! EGFR @@ -288821,7 +288670,7 @@ xref: GARD:0013379 {source="MONDO:equivalentTo"} xref: OMIM:616078 {source="GARD:0013379", source="MONDO:equivalentTo", source="DOID:0070059"} xref: Orphanet:436151 {source="MONDO:subClassOf", source="GARD:0013379"} xref: UMLS:C4015141 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018574 {source="MONDO:Redundant", source="ORDO:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome +is_a: MONDO:0018574 {source="MONDO:Redundant", source="Orphanet:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome intersection_of: MONDO:0018574 ! intellectual disability-expressive aphasia-facial dysmorphism syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15573 ! SETBP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15573 {source="mim2gene_medgen"} ! SETBP1 @@ -288836,8 +288685,8 @@ subset: ordo_disease {source="Orphanet:397758"} synonym: "RDGCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616079] synonym: "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [Orphanet:397758] synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical, OMIM:616079] -xref: ICD10CM:H35.5 {source="ORDO:397758/attributed", source="ORDO:397758/ntbt", source="Orphanet:397758", source="MONDO:directSiblingOf"} -xref: OMIM:616079 {source="MONDO:equivalentTo", source="Orphanet:397758", source="ORDO:397758/e"} +xref: ICD10CM:H35.5 {source="Orphanet:397758", source="Orphanet:397758/attributed", source="Orphanet:397758/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:616079 {source="Orphanet:397758/e", source="MONDO:equivalentTo", source="Orphanet:397758"} xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"} xref: UMLS:C4015146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="Orphanet:397758"} ! inherited retinal dystrophy @@ -288873,7 +288722,7 @@ synonym: "pontocerebellar hypoplasia, type 1C" EXACT [MONDO:Lexical, OMIM:616081 xref: OMIM:616081 {source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="MONDO:subClassOf", source="OMIM:616081"} xref: UMLS:C4015160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016396 {source="MONDO:Redundant", source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1 +is_a: MONDO:0016396 {source="MONDO:Redundant", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 intersection_of: MONDO:0016396 ! pontocerebellar hypoplasia type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17035 ! EXOSC8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17035 {source="mim2gene_medgen"} ! EXOSC8 @@ -288897,7 +288746,7 @@ xref: DOID:0070060 {source="MONDO:equivalentTo"} xref: GARD:0013136 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:616083 {source="MONDO:equivalentTo", source="DOID:0070060"} xref: UMLS:C4015167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018574 {source="MONDO:Redundant", source="ORDO:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome +is_a: MONDO:0018574 {source="MONDO:Redundant", source="Orphanet:436151/btnt"} ! intellectual disability-expressive aphasia-facial dysmorphism syndrome intersection_of: MONDO:0018574 ! intellectual disability-expressive aphasia-facial dysmorphism syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16966 ! ZMYND11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16966 {source="mim2gene_medgen"} ! ZMYND11 @@ -288915,8 +288764,8 @@ synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, an synonym: "SIFD" EXACT ABBREVIATION [DOID:0080209, MONDO:Lexical, OMIM:616084] synonym: "SIFD syndrome" EXACT [Orphanet:369861] xref: DOID:0080209 {source="MONDO:equivalentTo"} -xref: ICD10CM:D64.0 {source="ORDO:369861/attributed", source="ORDO:369861/ntbt", source="Orphanet:369861"} -xref: OMIM:616084 {source="MONDO:equivalentTo", source="Orphanet:369861", source="DOID:0080209", source="ORDO:369861/e"} +xref: ICD10CM:D64.0 {source="Orphanet:369861/attributed", source="Orphanet:369861/ntbt", source="Orphanet:369861"} +xref: OMIM:616084 {source="Orphanet:369861/e", source="MONDO:equivalentTo", source="Orphanet:369861", source="DOID:0080209"} xref: Orphanet:369861 {source="MONDO:equivalentTo", source="OMIM:616084"} xref: UMLS:C4015172 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production @@ -288951,8 +288800,8 @@ synonym: "LGMD due to POMK deficiency" EXACT [Orphanet:445110] synonym: "MDDGC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616094] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical, OMIM:616094] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [OMIM:616094] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:445110", source="ORDO:445110/attributed", source="ORDO:445110/ntbt"} -xref: OMIM:616094 {source="MONDO:equivalentTo", source="Orphanet:445110", source="ORDO:445110/e"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:445110/attributed", source="Orphanet:445110/ntbt", source="Orphanet:445110"} +xref: OMIM:616094 {source="Orphanet:445110/e", source="MONDO:equivalentTo", source="Orphanet:445110"} xref: Orphanet:445110 {source="MONDO:equivalentTo"} xref: UMLS:C4015184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000173 {source="DC-OMIM:616094", source="OMIM:616094"} ! muscular dystrophy-dystroglycanopathy, type C @@ -288969,8 +288818,8 @@ name: ketoacidosis due to monocarboxylate transporter-1 deficiency subset: ordo_disease {source="Orphanet:438075"} synonym: "MCT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616095] synonym: "monocarboxylate transporter 1 deficiency" RELATED [MONDO:Lexical, OMIM:616095] -xref: ICD10CM:E88.8 {source="ORDO:438075/attributed", source="ORDO:438075/ntbt", source="Orphanet:438075"} -xref: OMIM:616095 {source="MONDO:equivalentTo", source="Orphanet:438075", source="ORDO:438075/e"} +xref: ICD10CM:E88.8 {source="Orphanet:438075", source="Orphanet:438075/attributed", source="Orphanet:438075/ntbt"} +xref: OMIM:616095 {source="MONDO:equivalentTo", source="Orphanet:438075", source="Orphanet:438075/e"} xref: Orphanet:438075 {source="MONDO:equivalentTo"} xref: UMLS:C4015186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018579 {source="Orphanet:438075"} ! disorder of ketone body transport @@ -289004,8 +288853,8 @@ synonym: "KWWH type IV" EXACT [Orphanet:420686] synonym: "palmoplantar keratoderma and woolly hair" RELATED [MONDO:Lexical, OMIM:616099] synonym: "PPKWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616099] synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:420686] -xref: ICD10CM:Q82.8 {source="Orphanet:420686", source="ORDO:420686/attributed", source="ORDO:420686/ntbt"} -xref: OMIM:616099 {source="ORDO:420686/e", source="Orphanet:420686", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:420686/attributed", source="Orphanet:420686/ntbt", source="Orphanet:420686"} +xref: OMIM:616099 {source="Orphanet:420686", source="MONDO:equivalentTo", source="Orphanet:420686/e"} xref: Orphanet:420686 {source="MONDO:equivalentTo", source="OMIM:616099"} xref: SCTID:764108000 {source="MONDO:equivalentTo"} xref: UMLS:C4015202 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -289035,9 +288884,9 @@ synonym: "CTLA4 haploinsufficiency" EXACT [NCIT:C126341] synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [OMIM:616100] synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [OMIM:616100, OMIM:genemap2] xref: GARD:0012316 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.9 {source="Orphanet:436159", source="ORDO:436159/attributed", source="ORDO:436159/ntbt"} +xref: ICD10CM:D47.9 {source="Orphanet:436159", source="Orphanet:436159/attributed", source="Orphanet:436159/ntbt"} xref: NCIT:C126341 {source="MONDO:equivalentTo"} -xref: OMIM:616100 {source="Orphanet:436159", source="MONDO:equivalentTo", source="ORDO:436159/e"} +xref: OMIM:616100 {source="Orphanet:436159", source="MONDO:equivalentTo", source="Orphanet:436159/e"} xref: Orphanet:436159 {source="MONDO:equivalentTo"} xref: UMLS:C4015214 {source="NCIT:C126341", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="NCIT:C126341", source="indirect"} ! autoimmune disease @@ -289073,8 +288922,8 @@ subset: ordo_disease {source="Orphanet:436245"} synonym: "RDJCSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616108] synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome" RELATED [MONDO:Lexical, OMIM:616108] synonym: "retinal dystrophy-juvenile cataract-short stature syndrome" EXACT [Orphanet:436245] -xref: ICD10CM:Q87.8 {source="ORDO:436245/attributed", source="ORDO:436245/btnt", source="Orphanet:436245"} -xref: OMIM:616108 {source="MONDO:equivalentTo", source="ORDO:436245/e", source="Orphanet:436245"} +xref: ICD10CM:Q87.8 {source="Orphanet:436245/attributed", source="Orphanet:436245/btnt", source="Orphanet:436245"} +xref: OMIM:616108 {source="Orphanet:436245/e", source="MONDO:equivalentTo", source="Orphanet:436245"} xref: Orphanet:436245 {source="MONDO:equivalentTo"} xref: UMLS:C4015242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:436245"} ! syndromic intellectual disability @@ -289097,7 +288946,7 @@ xref: OMIM:616111 {source="MONDO:equivalentTo", source="DOID:0080118"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:616111"} xref: UMLS:C4015253 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:616111", source="indirect"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="DOID:0080118", source="MONDO:Redundant", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080118", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="MONDO:cjm"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/34399 ! UQCC3 @@ -289110,7 +288959,7 @@ name: polyendocrine-polyneuropathy syndrome subset: ordo_disease {source="Orphanet:453533"} synonym: "PEPNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616113] synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113] -xref: OMIM:616113 {source="Orphanet:453533", source="ORDO:453533/e", source="MONDO:equivalentTo"} +xref: OMIM:616113 {source="Orphanet:453533", source="MONDO:equivalentTo", source="Orphanet:453533/e"} xref: Orphanet:453533 {source="MONDO:equivalentTo"} xref: UMLS:C4015261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:453533"} ! syndromic intellectual disability @@ -289175,8 +289024,8 @@ synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" REL synonym: "CCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616117] synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [Orphanet:436242] xref: EFO:0005304 {source="MONDO:equivalentTo"} -xref: ICD10CM:I45.8 {source="ORDO:436242/attributed", source="ORDO:436242/ntbt", source="Orphanet:436242"} -xref: OMIM:616117 {source="EFO:0005304", source="MONDO:equivalentTo", source="Orphanet:436242", source="ORDO:436242/e"} +xref: ICD10CM:I45.8 {source="Orphanet:436242", source="Orphanet:436242/attributed", source="Orphanet:436242/ntbt"} +xref: OMIM:616117 {source="Orphanet:436242/e", source="EFO:0005304", source="MONDO:equivalentTo", source="Orphanet:436242"} xref: Orphanet:436242 {source="MONDO:equivalentTo"} xref: UMLS:C4015285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005449 {source="EFO:0005304"} ! conduction system disorder @@ -289211,8 +289060,8 @@ synonym: "immunodeficiency 38, Mycobacteriosis, autosomal recessive" RELATED [OM synonym: "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ISG15 deficiency, autosomal recessive" RELATED [OMIM:616126] synonym: "MSMD due to complete ISG15 deficiency" EXACT [Orphanet:319563] -xref: ICD10CM:D84.8 {source="ORDO:319563/attributed", source="ORDO:319563/ntbt", source="Orphanet:319563"} -xref: OMIM:616126 {source="MONDO:equivalentTo", source="Orphanet:319563", source="ORDO:319563/e"} +xref: ICD10CM:D84.8 {source="Orphanet:319563", source="Orphanet:319563/attributed", source="Orphanet:319563/ntbt"} +xref: OMIM:616126 {source="MONDO:equivalentTo", source="Orphanet:319563", source="Orphanet:319563/e"} xref: Orphanet:319563 {source="OMIM:616126", source="MONDO:equivalentTo"} xref: UMLS:C4015293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases @@ -289235,8 +289084,8 @@ synonym: "spinocerebellar ataxia autosomal recessive type 17" EXACT [Orphanet:45 synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:616127] synonym: "spinocerebellar ataxia, autosomal recessive type 17" EXACT [MONDORULE:2, OMIM:616127] xref: DOID:0080064 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="Orphanet:453521", source="ORDO:453521/attributed", source="ORDO:453521/ntbt"} -xref: OMIM:616127 {source="DOID:0080064", source="ORDO:453521/e", source="Orphanet:453521", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.1 {source="Orphanet:453521/attributed", source="Orphanet:453521/ntbt", source="Orphanet:453521"} +xref: OMIM:616127 {source="DOID:0080064", source="Orphanet:453521", source="MONDO:equivalentTo", source="Orphanet:453521/e"} xref: Orphanet:453521 {source="MONDO:equivalentTo"} xref: UMLS:C4015301 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:453521"} ! syndromic intellectual disability @@ -289281,7 +289130,7 @@ xref: DOID:0080444 {source="MONDO:equivalentTo"} xref: OMIM:616139 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:616139"} xref: UMLS:C4015316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:616139", source="MONDO:Redundant", source="OMIM:616139"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4586 ! GRIN2B @@ -289302,8 +289151,8 @@ synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:6161 synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791] xref: DOID:0060791 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="DOID:0060791", source="Orphanet:438114", source="ORDO:438114/attributed", source="ORDO:438114/ntbt"} -xref: OMIM:616140 {source="DOID:0060791", source="MONDO:equivalentTo", source="Orphanet:438114", source="ORDO:438114/e"} +xref: ICD10CM:E75.2 {source="DOID:0060791", source="Orphanet:438114/attributed", source="Orphanet:438114/ntbt", source="Orphanet:438114"} +xref: OMIM:616140 {source="DOID:0060791", source="Orphanet:438114/e", source="MONDO:equivalentTo", source="Orphanet:438114"} xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"} xref: UMLS:C4015323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:438114"} ! syndromic intellectual disability @@ -289333,13 +289182,13 @@ synonym: "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" EXACT [Orph synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [OMIM:616145] synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388] xref: GARD:0000028 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1388", source="ORDO:1388/attributed", source="ORDO:1388/ntbt"} -xref: MESH:C535347 {source="ORDO:1388/e", source="Orphanet:1388", source="MONDO:equivalentTo"} -xref: OMIM:302380 {source="MONDO:equivalentObsolete", source="Orphanet:1388", source="ORDO:1388/nd"} -xref: OMIM:616145 {source="ORDO:1388/e", source="Orphanet:1388", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:1388/attributed", source="Orphanet:1388/ntbt", source="Orphanet:1388"} +xref: MESH:C535347 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} +xref: OMIM:302380 {source="MONDO:equivalentObsolete", source="Orphanet:1388", source="Orphanet:1388/nd"} +xref: OMIM:616145 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} xref: Orphanet:1388 {source="MONDO:equivalentTo", source="OMIM:616145"} xref: SCTID:722383001 {source="MONDO:equivalentTo"} -xref: UMLS:C1844887 {source="ORDO:1388/e", source="NCBI:mim2gene_medline", source="Orphanet:1388", source="MONDO:equivalentTo"} +xref: UMLS:C1844887 {source="NCBI:mim2gene_medline", source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1388", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1388"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015335 {source="Orphanet:1388"} ! orofacial clefting syndrome @@ -289361,7 +289210,7 @@ xref: OMIM:616151 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="MONDO:subClassOf", source="OMIM:616151"} xref: UMLS:C4015342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:616151", source="indirect"} ! vitelliform macular dystrophy -is_a: MONDO:0011979 {source="ORDO:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy +is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6055 ! IMPG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6055 {source="mim2gene_medgen"} ! IMPG1 @@ -289379,7 +289228,7 @@ xref: OMIM:616152 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="MONDO:subClassOf", source="OMIM:616152"} xref: UMLS:C4015343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:616152", source="indirect"} ! vitelliform macular dystrophy -is_a: MONDO:0011979 {source="ORDO:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy +is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18362 ! IMPG2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18362 {source="mim2gene_medgen"} ! IMPG2 @@ -289398,8 +289247,8 @@ synonym: "rhizomelic chondrodysplasia punctata type 4" EXACT CLINGEN_PREFERRED [ synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/811, Orphanet:438178] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" EXACT [] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [Orphanet:438178] -xref: ICD10CM:E71.3 {source="ORDO:438178/attributed", source="ORDO:438178/ntbt", source="Orphanet:438178"} -xref: OMIM:616154 {source="MONDO:equivalentTo", source="Orphanet:438178", source="ORDO:438178/e"} +xref: ICD10CM:E71.3 {source="Orphanet:438178", source="Orphanet:438178/attributed", source="Orphanet:438178/ntbt"} +xref: OMIM:616154 {source="Orphanet:438178/e", source="MONDO:equivalentTo", source="Orphanet:438178"} xref: Orphanet:438178 {source="MONDO:equivalentTo"} xref: UMLS:C4015344 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:438178"} ! syndromic intellectual disability @@ -289426,8 +289275,8 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155] synonym: "CMT2S" EXACT ABBREVIATION [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073] synonym: "IGHMBP2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110171 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:443073/attributed", source="ORDO:443073/ntbt", source="Orphanet:443073"} -xref: OMIM:616155 {source="MONDO:equivalentTo", source="DOID:0110171", source="Orphanet:443073", source="ORDO:443073/e"} +xref: ICD10CM:G60.0 {source="Orphanet:443073", source="Orphanet:443073/attributed", source="Orphanet:443073/ntbt"} +xref: OMIM:616155 {source="Orphanet:443073/e", source="MONDO:equivalentTo", source="DOID:0110171", source="Orphanet:443073"} xref: Orphanet:443073 {source="MONDO:equivalentTo", source="DOID:0110171"} xref: UMLS:C4015349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110171/inferred", source="MONDO:Redundant", source="OMIM:616155", source="Orphanet:443073/inferred"} ! Charcot-Marie-Tooth disease @@ -289454,8 +289303,8 @@ synonym: "MRD31" EXACT ABBREVIATION [DOID:0070061, MONDO:Lexical, OMIM:616158] synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [OMIM:616158, OMIM:genemap2] synonym: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" EXACT CLINGEN_PREFERRED [] xref: DOID:0070061 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="Orphanet:438216", source="ORDO:438216/attributed", source="ORDO:438216/ntbt"} -xref: OMIM:616158 {source="Orphanet:438216", source="MONDO:equivalentTo", source="DOID:0070061", source="ORDO:438216/e"} +xref: ICD10CM:G40.4 {source="Orphanet:438216", source="Orphanet:438216/attributed", source="Orphanet:438216/ntbt"} +xref: OMIM:616158 {source="Orphanet:438216", source="MONDO:equivalentTo", source="Orphanet:438216/e", source="DOID:0070061"} xref: Orphanet:438216 {source="MONDO:equivalentTo"} xref: UMLS:C4015357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN237609 {source="MONDO:equivalentTo"} @@ -289480,8 +289329,8 @@ xref: DOID:0110931 {source="MONDO:equivalentTo"} xref: OMIM:616165 {source="DOID:0110931", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="MONDO:subClassOf", source="OMIM:616165"} xref: UMLS:C4015360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy -is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy +is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy +is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110931", source="MONDO:Redundant", source="OMIM:616165", source="indirect"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6649 ! LMOD3 @@ -289501,7 +289350,7 @@ synonym: "MFAP5 familial thoracic aortic aneurysm and aortic dissection" EXACT [ xref: OMIM:616166 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:616166"} xref: UMLS:C4015368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:616166", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:616166", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29673 ! MFAP5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29673 {source="mim2gene_medgen"} ! MFAP5 @@ -289569,8 +289418,8 @@ synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKA synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048] xref: DOID:0111048 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.4 {source="Orphanet:438207", source="ORDO:438207/attributed", source="ORDO:438207/ntbt", source="DOID:0111048"} -xref: OMIM:616176 {source="ORDO:438207/e", source="Orphanet:438207", source="MONDO:equivalentTo", source="DOID:0111048"} +xref: ICD10CM:D69.4 {source="Orphanet:438207/attributed", source="Orphanet:438207/ntbt", source="Orphanet:438207", source="DOID:0111048"} +xref: OMIM:616176 {source="Orphanet:438207", source="MONDO:equivalentTo", source="Orphanet:438207/e", source="DOID:0111048"} xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"} xref: UMLS:C4015405 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:616176", source="MONDO:Redundant", source="OMIM:616176", source="indirect"} ! inherited bleeding disorder, platelet-type @@ -289599,8 +289448,8 @@ synonym: "ODG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616185] synonym: "ovarian dysgenesis 4" RELATED [MONDO:Lexical, OMIM:616185] synonym: "ovarian dysgenesis type 4" EXACT [MONDORULE:1, OMIM:616185] xref: DOID:0080496 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q96.8 {source="Orphanet:444048", source="ORDO:444048/attributed", source="ORDO:444048/ntbt"} -xref: OMIM:616185 {source="ORDO:444048/e", source="Orphanet:444048", source="MONDO:equivalentTo"} +xref: ICD10CM:Q96.8 {source="Orphanet:444048/attributed", source="Orphanet:444048/ntbt", source="Orphanet:444048"} +xref: OMIM:616185 {source="Orphanet:444048", source="MONDO:equivalentTo", source="Orphanet:444048/e"} xref: Orphanet:444048 {source="MONDO:equivalentTo"} xref: UMLS:C4015409 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017961 {source="Orphanet:444048"} ! 46,XX disorder of gonadal development @@ -289624,9 +289473,9 @@ synonym: "progressive myoclonic epilepsy caused by mutation in KCNC1" EXACT [MON synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [Orphanet:435438] synonym: "progressive myoclonus epilepsy type 7" EXACT [Orphanet:435438] xref: DOID:0111447 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:435438", source="ORDO:435438/attributed", source="ORDO:435438/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:435438/attributed", source="Orphanet:435438/ntbt", source="Orphanet:435438"} xref: NCIT:C142804 {source="MONDO:equivalentTo"} -xref: OMIM:616187 {source="Orphanet:435438", source="ORDO:435438/e", source="MONDO:equivalentTo"} +xref: OMIM:616187 {source="Orphanet:435438", source="MONDO:equivalentTo", source="Orphanet:435438/e"} xref: Orphanet:435438 {source="MONDO:equivalentTo"} xref: UMLS:C4015420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder @@ -289656,7 +289505,7 @@ subset: ordo_disease {source="Orphanet:445062"} synonym: "ACPHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616192] synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" RELATED [MONDO:Lexical, OMIM:616192] synonym: "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" EXACT [Orphanet:445062] -xref: OMIM:616192 {source="MONDO:equivalentTo", source="Orphanet:445062", source="ORDO:445062/e"} +xref: OMIM:616192 {source="MONDO:equivalentTo", source="Orphanet:445062", source="Orphanet:445062/e"} xref: Orphanet:445062 {source="MONDO:equivalentTo"} xref: UMLS:C4015436 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:445062"} ! diabetes mellitus @@ -289699,8 +289548,8 @@ synonym: "COXPD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616198, Orphanet:4440 synonym: "GTPBP3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111500 {source="MONDO:equivalentTo"} xref: EFO:0009033 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.2 {source="Orphanet:444013", source="ORDO:444013/attributed", source="ORDO:444013/ntbt"} -xref: OMIM:616198 {source="Orphanet:444013", source="MONDO:equivalentTo", source="ORDO:444013/e"} +xref: ICD10CM:I42.2 {source="Orphanet:444013", source="Orphanet:444013/attributed", source="Orphanet:444013/ntbt"} +xref: OMIM:616198 {source="Orphanet:444013", source="MONDO:equivalentTo", source="Orphanet:444013/e"} xref: Orphanet:444013 {source="MONDO:equivalentTo"} xref: UMLS:C4015447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:444013"} ! syndromic intellectual disability @@ -289723,8 +289572,8 @@ synonym: "PGBM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern] synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, OMIM:616199] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:456369", source="ORDO:456369/attributed", source="ORDO:456369/ntbt"} -xref: OMIM:616199 {source="Orphanet:456369", source="ORDO:456369/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:456369", source="Orphanet:456369/attributed", source="Orphanet:456369/ntbt"} +xref: OMIM:616199 {source="Orphanet:456369", source="MONDO:equivalentTo", source="Orphanet:456369/e"} xref: Orphanet:456369 {source="MONDO:equivalentTo"} xref: UMLS:C4015452 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000192 {source="DC-OMIM:616199", source="MONDO:Redundant", source="OMIM:616199"} ! polyglucosan body myopathy @@ -289744,7 +289593,7 @@ synonym: "RJALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616200] synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical, OMIM:616200] synonym: "Ruijs-Aalfs syndrome" EXACT [Orphanet:435953] xref: DOID:0111264 {source="MONDO:equivalentTo"} -xref: OMIM:616200 {source="Orphanet:435953", source="ORDO:435953/e", source="MONDO:equivalentTo"} +xref: OMIM:616200 {source="Orphanet:435953", source="MONDO:equivalentTo", source="Orphanet:435953/e"} xref: Orphanet:435953 {source="MONDO:equivalentTo"} xref: UMLS:C4015461 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015333 {source="Orphanet:435953"} ! progeroid syndrome @@ -289768,8 +289617,8 @@ synonym: "chronic atrial intestinal dysrhythmia syndrome" RELATED [GARD:0012281] synonym: "Cohesinopathy affecting heart and gut rhythm" RELATED [GARD:0012281] xref: DOID:0060339 {source="MONDO:equivalentTo"} xref: GARD:0012281 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:K59.8 {source="Orphanet:435988", source="ORDO:435988/attributed", source="ORDO:435988/ntbt"} -xref: OMIM:616201 {source="Orphanet:435988", source="ORDO:435988/e", source="MONDO:equivalentTo", source="DOID:0060339"} +xref: ICD10CM:K59.8 {source="Orphanet:435988/attributed", source="Orphanet:435988/ntbt", source="Orphanet:435988"} +xref: OMIM:616201 {source="Orphanet:435988", source="MONDO:equivalentTo", source="Orphanet:435988/e", source="DOID:0060339"} xref: Orphanet:435988 {source="MONDO:equivalentTo"} xref: SCTID:720507006 {source="MONDO:equivalentTo"} xref: UMLS:C4015474 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -289789,8 +289638,8 @@ synonym: "CEREBELLOFACIODENTAL syndrome" RELATED [MONDO:Lexical, OMIM:616202] synonym: "Cerebellofaciodental syndrome" EXACT [Orphanet:444072] synonym: "CFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616202] xref: EFO:0009030 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:444072/attributed", source="ORDO:444072/ntbt", source="Orphanet:444072"} -xref: OMIM:616202 {source="MONDO:equivalentTo", source="Orphanet:444072", source="ORDO:444072/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:444072", source="Orphanet:444072/attributed", source="Orphanet:444072/ntbt"} +xref: OMIM:616202 {source="MONDO:equivalentTo", source="Orphanet:444072", source="Orphanet:444072/e"} xref: Orphanet:444072 {source="MONDO:equivalentTo"} xref: UMLS:C4015495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN221667 {source="MONDO:equivalentTo"} @@ -289819,8 +289668,8 @@ synonym: "SCAR18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616204, Orphanet:36343 synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204] synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:616204] xref: DOID:0080042 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="Orphanet:363432", source="ORDO:363432/attributed", source="ORDO:363432/ntbt"} -xref: OMIM:616204 {source="DOID:0080042", source="Orphanet:363432", source="ORDO:363432/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.1 {source="Orphanet:363432/attributed", source="Orphanet:363432/ntbt", source="Orphanet:363432"} +xref: OMIM:616204 {source="DOID:0080042", source="Orphanet:363432", source="MONDO:equivalentTo", source="Orphanet:363432/e"} xref: Orphanet:363429 {source="MONDO:subClassOf", source="OMIM:616204"} xref: Orphanet:363432 {source="OMIM:616204", source="MONDO:equivalentTo"} xref: UMLS:C4015505 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -289857,8 +289706,8 @@ name: autosomal dominant mitochondrial myopathy with exercise intolerance subset: ordo_disease {source="Orphanet:457050"} synonym: "IMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616209] synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616209] -xref: ICD10CM:G71.3 {source="ORDO:457050/attributed", source="ORDO:457050/ntbt", source="Orphanet:457050"} -xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="ORDO:457050/e"} +xref: ICD10CM:G71.3 {source="Orphanet:457050", source="Orphanet:457050/attributed", source="Orphanet:457050/ntbt"} +xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="Orphanet:457050/e"} xref: Orphanet:457050 {source="MONDO:equivalentTo"} xref: UMLS:C4015513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:457050"} ! mitochondrial oxidative phosphorylation disorder @@ -289883,7 +289732,7 @@ synonym: "WWOX-related epileptic encephalopathy" EXACT [PMID:30356099] xref: DOID:0080452 {source="MONDO:equivalentTo"} xref: OMIM:616211 {source="MONDO:equivalentTo"} xref: UMLS:C4015519 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616211", source="MONDO:Redundant", source="OMIM:616211"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12799 ! WWOX @@ -289905,7 +289754,7 @@ synonym: "Microlissencephaly caused by mutation in KATNB1" EXACT [MONDO:design_p synonym: "microlissencephaly caused by mutation in KATNB1" EXACT [] xref: OMIM:616212 {source="MONDO:equivalentTo"} xref: UMLS:C4015525 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015204 {source="MONDO:Redundant", source="ORDO:1083/btnt"} ! microlissencephaly +is_a: MONDO:0015204 {source="MONDO:Redundant", source="Orphanet:1083/btnt"} ! microlissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:616212", source="indirect"} ! lissencephaly spectrum disorders intersection_of: MONDO:0015204 ! microlissencephaly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6217 ! KATNB1 @@ -290038,7 +289887,7 @@ synonym: "TEMPLE syndrome" RELATED [OMIM:616222] synonym: "uniparental disomy, maternal, chromosome 14" RELATED [OMIM:616222] xref: DOID:0111713 {source="MONDO:equivalentTo"} xref: NCIT:C120409 {source="MONDO:equivalentTo"} -xref: OMIM:616222 {source="MONDO:equivalentTo", source="Orphanet:254516", source="ORDO:254516/e"} +xref: OMIM:616222 {source="Orphanet:254516/e", source="MONDO:equivalentTo", source="Orphanet:254516"} xref: Orphanet:254516 {source="MONDO:equivalentTo", source="OMIM:616222"} xref: UMLS:C4015558 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C120409"} is_a: MONDO:0000508 {source="Orphanet:254516"} ! syndromic intellectual disability @@ -290065,7 +289914,7 @@ xref: OMIM:616227 {source="DOID:0110658", source="MONDO:equivalentTo"} xref: Orphanet:353327 {source="MONDO:subClassOf", source="OMIM:616227"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616227"} xref: UMLS:C4015596 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018144 {source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect +is_a: MONDO:0018144 {source="Orphanet:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect is_a: MONDO:0018940 {source="DOID:0110658", source="MONDO:Redundant", source="OMIM:616227", source="indirect"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28287 ! ALG14 @@ -290097,7 +289946,7 @@ xref: Orphanet:353327 {source="MONDO:subClassOf", source="OMIM:616228"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616228"} xref: UMLS:C4015597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000182 {source="DC-OMIM:616228", source="OMIM:616228"} ! congenital myasthenic syndrome with tubular aggregates -is_a: MONDO:0018144 {source="MONDO:Redundant", source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect +is_a: MONDO:0018144 {source="MONDO:Redundant", source="Orphanet:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect intersection_of: MONDO:0018144 ! congenital myasthenic syndromes with glycosylation defect intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23159 ! ALG2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23159 {source="mim2gene_medgen"} ! ALG2 @@ -290138,8 +289987,8 @@ synonym: "progressive myoclonic epilepsy caused by mutation in CERS1" EXACT [MON synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [Orphanet:424027] synonym: "progressive myoclonus epilepsy type 8" EXACT [Orphanet:424027] xref: DOID:0111451 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:424027", source="ORDO:424027/attributed", source="ORDO:424027/ntbt"} -xref: OMIM:616230 {source="Orphanet:424027", source="ORDO:424027/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G40.3 {source="Orphanet:424027", source="Orphanet:424027/attributed", source="Orphanet:424027/ntbt"} +xref: OMIM:616230 {source="Orphanet:424027", source="MONDO:equivalentTo", source="Orphanet:424027/e"} xref: Orphanet:424027 {source="MONDO:equivalentTo", source="OMIM:616230"} xref: UMLS:C4015619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -290156,8 +290005,8 @@ def: "Myopathy due to calsequestrin and SERCA1 protein overload is characterised subset: ordo_disease {source="Orphanet:88635"} synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical, OMIM:616231] synonym: "VMCQA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616231] -xref: ICD10CM:G71.8 {source="Orphanet:88635", source="ORDO:88635/attributed", source="ORDO:88635/ntbt"} -xref: OMIM:616231 {source="ORDO:88635/e", source="Orphanet:88635", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.8 {source="Orphanet:88635/attributed", source="Orphanet:88635/ntbt", source="Orphanet:88635"} +xref: OMIM:616231 {source="Orphanet:88635", source="MONDO:equivalentTo", source="Orphanet:88635/e"} xref: Orphanet:88635 {source="MONDO:equivalentTo", source="OMIM:616231"} xref: SCTID:724095006 {source="MONDO:equivalentTo"} xref: UMLS:C4015624 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290179,8 +290028,8 @@ synonym: "COXPD24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616239, Orphanet:4444 synonym: "NARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111485 {source="MONDO:equivalentTo"} xref: EFO:0009034 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="Orphanet:444458", source="ORDO:444458/attributed", source="ORDO:444458/ntbt"} -xref: OMIM:616239 {source="Orphanet:444458", source="ORDO:444458/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.3 {source="Orphanet:444458/attributed", source="Orphanet:444458/ntbt", source="Orphanet:444458"} +xref: OMIM:616239 {source="Orphanet:444458", source="MONDO:equivalentTo", source="Orphanet:444458/e"} xref: Orphanet:444458 {source="MONDO:equivalentTo"} xref: UMLS:C4015643 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616239", source="MONDO:Redundant", source="OMIM:616239"} ! combined oxidative phosphorylation deficiency @@ -290268,7 +290117,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:439897"} synonym: "Meckel syndrome 12" RELATED [MONDO:Lexical, OMIM:616258] synonym: "Meckel syndrome type 12" EXACT [MONDORULE:2, OMIM:616258] synonym: "MKS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616258] -xref: OMIM:616258 {source="MONDO:equivalentTo", source="ORDO:439897/e", source="Orphanet:439897"} +xref: OMIM:616258 {source="Orphanet:439897/e", source="MONDO:equivalentTo", source="Orphanet:439897"} xref: Orphanet:439897 {source="MONDO:equivalentTo"} xref: UMLS:C4015701 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:439897"} ! arthrogryposis multiplex congenita @@ -290315,8 +290164,8 @@ synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265] synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1, OMIM:616265] synonym: "PSS type A" EXACT [Orphanet:263548] synonym: "PSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616265] -xref: ICD10CM:Q80.8 {source="ORDO:263548/attributed", source="ORDO:263548/ntbt", source="Orphanet:263548"} -xref: OMIM:616265 {source="MONDO:equivalentTo", source="ORDO:263548/e", source="Orphanet:263548"} +xref: ICD10CM:Q80.8 {source="Orphanet:263548/attributed", source="Orphanet:263548/ntbt", source="Orphanet:263548"} +xref: OMIM:616265 {source="Orphanet:263548/e", source="MONDO:equivalentTo", source="Orphanet:263548"} xref: Orphanet:263543 {source="MONDO:subClassOf", source="OMIM:616265"} xref: Orphanet:263548 {source="MONDO:equivalentTo", source="OMIM:616265"} xref: UMLS:C4015729 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290353,7 +290202,7 @@ synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in synonym: "PNKP oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: EFO:0009016 {source="MONDO:equivalentTo"} xref: GARD:0013111 {source="MONDO:equivalentTo"} -xref: OMIM:616267 {source="MONDO:equivalentTo", source="ORDO:459033/e", source="Orphanet:459033"} +xref: OMIM:616267 {source="Orphanet:459033/e", source="MONDO:equivalentTo", source="Orphanet:459033"} xref: Orphanet:459033 {source="MONDO:equivalentTo"} xref: UMLS:C4225397 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020047 {source="EFO:0009016", source="Orphanet:459033"} ! autosomal recessive syndromic cerebellar ataxia @@ -290379,7 +290228,7 @@ synonym: "mental retardation, autosomal dominant 32" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:616268] synonym: "MRD32" EXACT ABBREVIATION [DOID:0070062, MONDO:Lexical, OMIM:616268] xref: DOID:0070062 {source="MONDO:equivalentTo"} -xref: OMIM:616268 {source="MONDO:equivalentTo", source="Orphanet:457193", source="ORDO:457193/e", source="DOID:0070062"} +xref: OMIM:616268 {source="MONDO:equivalentTo", source="Orphanet:457193", source="Orphanet:457193/e", source="DOID:0070062"} xref: Orphanet:457193 {source="MONDO:equivalentTo"} xref: UMLS:C4225396 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457193", source="indirect"} ! syndromic intellectual disability @@ -290402,7 +290251,7 @@ synonym: "intellectual disability, autosomal recessive type 48" EXACT [MONDORULE synonym: "mental retardation, autosomal recessive 48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269] synonym: "mental retardation, autosomal recessive type 48" EXACT DEPRECATED [MONDORULE:2, OMIM:616269] synonym: "MRT48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269] -xref: OMIM:616269 {source="MONDO:equivalentTo", source="Orphanet:457212", source="ORDO:457212/e"} +xref: OMIM:616269 {source="Orphanet:457212/e", source="MONDO:equivalentTo", source="Orphanet:457212"} xref: Orphanet:457212 {source="MONDO:equivalentTo"} xref: UMLS:C4225395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:457212"} ! syndromic intellectual disability @@ -290429,7 +290278,7 @@ xref: OMIM:616270 {source="MONDO:equivalentTo", source="DOID:0110065"} xref: Orphanet:100031 {source="MONDO:subClassOf", source="OMIM:616270"} xref: UMLS:C4225394 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015047 {source="ORDO:100031/btnt"} ! amelogenesis imperfecta type 1 +is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110065", source="MONDO:Redundant", source="OMIM:616270", source="indirect"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/452 ! AMBN @@ -290455,8 +290304,8 @@ synonym: "MGA7" EXACT ABBREVIATION [DOID:0110003, Orphanet:445038] synonym: "MGCA7" EXACT ABBREVIATION [DOID:0110003] xref: DOID:0110003 {source="MONDO:equivalentTo"} xref: EFO:0009014 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="Orphanet:445038", source="ORDO:445038/attributed", source="ORDO:445038/ntbt"} -xref: OMIM:616271 {source="ORDO:445038/e", source="Orphanet:445038", source="MONDO:equivalentTo", source="DOID:0110003"} +xref: ICD10CM:E71.1 {source="Orphanet:445038/attributed", source="Orphanet:445038/ntbt", source="Orphanet:445038"} +xref: OMIM:616271 {source="Orphanet:445038", source="MONDO:equivalentTo", source="Orphanet:445038/e", source="DOID:0110003"} xref: Orphanet:445038 {source="MONDO:equivalentTo", source="DOID:0110003"} xref: SCTID:764860006 {source="MONDO:equivalentTo"} xref: UMLS:C4225393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290480,7 +290329,7 @@ synonym: "COQ10D7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616276] synonym: "COQ4-related neonatal encephalomyopathy" EXACT [Orphanet:457185] synonym: "primary coenzyme Q10 deficiency 7" RELATED [DOID:0070244] xref: DOID:0070244 {source="MONDO:equivalentTo"} -xref: OMIM:616276 {source="MONDO:equivalentTo", source="ORDO:457185/e", source="Orphanet:457185"} +xref: OMIM:616276 {source="Orphanet:457185/e", source="MONDO:equivalentTo", source="Orphanet:457185"} xref: Orphanet:457185 {source="MONDO:equivalentTo"} xref: UMLS:C4225392 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018151 {source="DC-OMIM:616276", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency @@ -290498,7 +290347,7 @@ xref: GARD:0013019 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:616277 {source="MONDO:equivalentTo"} xref: Orphanet:506 {source="MONDO:subClassOf", source="OMIM:616277"} xref: UMLS:C4225391 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016815 {source="ORDO:255241/btnt"} ! Leigh syndrome with leukodystrophy +is_a: MONDO:0016815 {source="Orphanet:255241/btnt"} ! Leigh syndrome with leukodystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3151 {source="mim2gene_medgen"} ! ECHS1 property_value: confidence "1.3333333333333335" xsd:double @@ -290538,7 +290387,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:616279"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:616279", source="MONDO:relatedTo"} xref: UMLS:C4225389 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110259", source="MONDO:Redundant", source="OMIM:616279", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14304 ! UNC45B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14304 {source="mim2gene_medgen"} ! UNC45B @@ -290560,8 +290409,8 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280] synonym: "CMT2U" EXACT ABBREVIATION [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735] synonym: "MARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110173 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:397735/attributed", source="ORDO:397735/ntbt", source="DOID:0110173", source="Orphanet:397735"} -xref: OMIM:616280 {source="MONDO:equivalentTo", source="ORDO:397735/e", source="DOID:0110173", source="Orphanet:397735"} +xref: ICD10CM:G60.0 {source="DOID:0110173", source="Orphanet:397735/attributed", source="Orphanet:397735/ntbt", source="Orphanet:397735"} +xref: OMIM:616280 {source="Orphanet:397735/e", source="MONDO:equivalentTo", source="DOID:0110173", source="Orphanet:397735"} xref: Orphanet:397735 {source="MONDO:equivalentTo", source="OMIM:616280", source="DOID:0110173"} xref: SCTID:765046002 {source="MONDO:equivalentTo"} xref: UMLS:C4084821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290606,8 +290455,8 @@ synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE: synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282] synonym: "SPG73" EXACT ABBREVIATION [DOID:0110818, MONDO:Lexical, OMIM:616282, Orphanet:444099] xref: DOID:0110818 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110818", source="ORDO:444099/attributed", source="ORDO:444099/ntbt", source="Orphanet:444099"} -xref: OMIM:616282 {source="MONDO:equivalentTo", source="DOID:0110818", source="ORDO:444099/e", source="Orphanet:444099"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:444099/attributed", source="Orphanet:444099/ntbt", source="DOID:0110818", source="Orphanet:444099"} +xref: OMIM:616282 {source="Orphanet:444099/e", source="MONDO:equivalentTo", source="DOID:0110818", source="Orphanet:444099"} xref: Orphanet:444099 {source="MONDO:equivalentTo", source="DOID:0110818"} xref: UMLS:C4225387 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="MONDO:Redundant", source="Orphanet:444099"} ! autosomal dominant pure spastic paraplegia @@ -290629,7 +290478,7 @@ synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1, OMI xref: OMIM:616286 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="MONDO:subClassOf", source="OMIM:616286"} xref: UMLS:C4225386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017049 {source="ORDO:2680/btnt"} ! hypomyelination neuropathy-arthrogryposis syndrome +is_a: MONDO:0017049 {source="Orphanet:2680/btnt"} ! hypomyelination neuropathy-arthrogryposis syndrome is_a: MONDO:0017436 {source="DC-OMIM:616286", source="MONDO:Redundant", source="OMIM:616286"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8011 ! CNTNAP1 @@ -290650,7 +290499,7 @@ synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1, OMI xref: OMIM:616287 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="MONDO:subClassOf", source="OMIM:616287"} xref: UMLS:C4225385 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017049 {source="ORDO:2680/btnt"} ! hypomyelination neuropathy-arthrogryposis syndrome +is_a: MONDO:0017049 {source="Orphanet:2680/btnt"} ! hypomyelination neuropathy-arthrogryposis syndrome is_a: MONDO:0017436 {source="DC-OMIM:616287", source="MONDO:Redundant", source="OMIM:616287"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/237 ! ADCY6 @@ -290689,8 +290538,8 @@ synonym: "progressive autosomal recessive ataxia-sensorineural hearing loss synd synonym: "SCAR19" EXACT ABBREVIATION [Orphanet:448251] synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [OMIM:616291] xref: DOID:0080065 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:448251/attributed", source="ORDO:448251/ntbt", source="Orphanet:448251"} -xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="ORDO:448251/e", source="Orphanet:448251"} +xref: ICD10CM:G11.1 {source="Orphanet:448251", source="Orphanet:448251/attributed", source="Orphanet:448251/ntbt"} +xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="Orphanet:448251", source="Orphanet:448251/e"} xref: Orphanet:448251 {source="MONDO:equivalentTo"} xref: UMLS:C4225383 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="DOID:0080065"} ! autosomal recessive cerebellar ataxia @@ -290725,8 +290574,8 @@ synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, an synonym: "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" RELATED [Orphanet:444138] synonym: "plack" RELATED [MONDO:Lexical, OMIM:616295] synonym: "plack syndrome" EXACT [Orphanet:444138] -xref: ICD10CM:Q82.8 {source="Orphanet:444138", source="ORDO:444138/attributed", source="ORDO:444138/ntbt"} -xref: OMIM:616295 {source="ORDO:444138/e", source="Orphanet:444138", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:444138/attributed", source="Orphanet:444138/ntbt", source="Orphanet:444138"} +xref: OMIM:616295 {source="Orphanet:444138", source="MONDO:equivalentTo", source="Orphanet:444138/e"} xref: Orphanet:444138 {source="MONDO:equivalentTo"} xref: UMLS:C4225381 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016518 {source="Orphanet:444138"} ! isolated punctate palmoplantar keratoderma @@ -290746,7 +290595,7 @@ synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1, OMIM:616298] xref: OMIM:616298 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="MONDO:subClassOf", source="OMIM:616298"} xref: UMLS:C4225380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:616298", source="ORDO:85191/btnt"} ! Singleton-Merten dysplasia +is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:616298", source="Orphanet:85191/btnt"} ! Singleton-Merten dysplasia intersection_of: MONDO:0008429 ! Singleton-Merten dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19102 ! DDX58 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19102 {source="mim2gene_medgen"} ! DDX58 @@ -290758,8 +290607,8 @@ name: lipoyl transferase 1 deficiency subset: ordo_disease {source="Orphanet:401862"} synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical, OMIM:616299] synonym: "LIPT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616299] -xref: ICD10CM:E88.8 {source="Orphanet:401862", source="ORDO:401862/attributed", source="ORDO:401862/ntbt"} -xref: OMIM:616299 {source="Orphanet:401862", source="ORDO:401862/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.8 {source="Orphanet:401862", source="Orphanet:401862/attributed", source="Orphanet:401862/ntbt"} +xref: OMIM:616299 {source="Orphanet:401862", source="MONDO:equivalentTo", source="Orphanet:401862/e"} xref: Orphanet:401862 {source="MONDO:equivalentTo", source="OMIM:616299"} xref: UMLS:C4225379 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018424 {source="Orphanet:401862"} ! inherited lipoic acid biosynthesis defect @@ -290796,7 +290645,7 @@ xref: OMIM:616304 {source="MONDO:equivalentTo", source="DOID:0110674"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616304"} xref: UMLS:C4225377 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110674", source="MONDO:Redundant", source="OMIM:616304", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6696 ! LRP4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6696 {source="mim2gene_medgen"} ! LRP4 @@ -290843,7 +290692,7 @@ is_a: MONDO:0015802 {source="DOID:0070063", source="MONDO:Redundant", source="OM intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3010 ! DPP6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3010 {source="mim2gene_medgen"} ! DPP6 -relationship: excluded_subClassOf MONDO:0007988 {source="ORDO:2514/btnt"} ! autosomal dominant primary microcephaly +relationship: excluded_subClassOf MONDO:0007988 {source="Orphanet:2514/btnt"} ! autosomal dominant primary microcephaly relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance property_value: confidence "4.025" xsd:double @@ -290867,7 +290716,7 @@ xref: OMIM:616313 {source="MONDO:equivalentTo", source="DOID:0110681"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616313"} xref: UMLS:C4225374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110681", source="MONDO:Redundant", source="OMIM:616313", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1961 {source="mim2gene_medgen"} ! CHRNB1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -290886,7 +290735,7 @@ xref: OMIM:616314 {source="MONDO:equivalentTo", source="DOID:0110680"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616314"} xref: UMLS:C4225373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110680", source="MONDO:Redundant", source="OMIM:616314", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1961 {source="mim2gene_medgen"} ! CHRNB1 relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -290906,7 +290755,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616321"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:616321"} xref: UMLS:C4225372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110666", source="MONDO:Redundant", source="OMIM:616321", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1965 {source="mim2gene_medgen"} ! CHRND relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -290926,7 +290775,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616322"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:616322"} xref: UMLS:C4225371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110665", source="MONDO:Redundant", source="OMIM:616322", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1965 {source="mim2gene_medgen"} ! CHRND relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -290946,7 +290795,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616323"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:616323"} xref: UMLS:C4225370 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110664", source="MONDO:Redundant", source="OMIM:616323", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1965 {source="mim2gene_medgen"} ! CHRND relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -290965,7 +290814,7 @@ xref: OMIM:616324 {source="DOID:0110677", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616324"} xref: UMLS:C4225369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110677", source="MONDO:Redundant", source="OMIM:616324", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1966 {source="mim2gene_medgen"} ! CHRNE relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -290986,7 +290835,7 @@ xref: OMIM:616325 {source="MONDO:equivalentTo", source="DOID:0110670"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616325"} xref: UMLS:C4225368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110670", source="MONDO:Redundant", source="OMIM:616325", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7525 ! MUSK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7525 {source="mim2gene_medgen"} ! MUSK @@ -291017,7 +290866,7 @@ xref: OMIM:616326 {source="MONDO:equivalentTo", source="DOID:0110675"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616326"} xref: UMLS:C1837094 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018940 {source="DOID:0110675", source="MESH:C563831", source="MONDO:Redundant", source="OMIM:616326", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9863 ! RAPSN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9863 {source="mim2gene_medgen"} ! RAPSN @@ -291061,7 +290910,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616330"} xref: Orphanet:98914 {source="MONDO:subClassOf", source="OMIM:616330"} xref: UMLS:C4225364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110683", source="MONDO:Redundant", source="OMIM:616330", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome +is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11132 ! SNAP25 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11132 {source="mim2gene_medgen"} ! SNAP25 @@ -291085,7 +290934,7 @@ xref: OMIM:616331 {source="DOID:0060765", source="MONDO:equivalentTo"} xref: Orphanet:3107 {source="MONDO:subClassOf", source="DOID:0060765", source="OMIM:616331"} xref: Orphanet:97360 {source="MONDO:subClassOf", source="DOID:0060765", source="OMIM:616331"} xref: UMLS:C4225363 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008389 {source="MONDO:Redundant", source="ORDO:3107/btnt"} ! autosomal dominant Robinow syndrome +is_a: MONDO:0008389 {source="MONDO:Redundant", source="Orphanet:3107/btnt"} ! autosomal dominant Robinow syndrome is_a: MONDO:0019978 {source="DOID:0060765", source="MONDO:Redundant", source="OMIM:616331", source="indirect"} ! Robinow syndrome intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3084 ! DVL1 @@ -291126,7 +290975,7 @@ synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2 xref: DOID:0080451 {source="MONDO:equivalentTo"} xref: OMIM:616339 {source="MONDO:equivalentTo"} xref: UMLS:C4225361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS1 @@ -291142,8 +290991,7 @@ synonym: "autosomal dominant deafness 67" NARROW [DOID:0110588] synonym: "autosomal dominant nonsyndromic deafness 67" NARROW [OMIM:616340] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 67" NARROW [DOID:0110588, MONDORULE:2] -synonym: "deafness, autosomal dominant 67" NARROW [OMIM:616340, OMIM:genemap2] -synonym: "deafness, autosomal dominant 67" NARROW [MONDO:Lexical, OMIM:616340] +synonym: "deafness, autosomal dominant 67" NARROW [MONDO:Lexical, OMIM:616340, OMIM:genemap2] synonym: "deafness, autosomal dominant type 67" NARROW [MONDORULE:2, OMIM:616340] synonym: "DFNA67" NARROW ABBREVIATION [DOID:0110588, MONDO:Lexical, OMIM:616340] synonym: "OSBPL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -291174,8 +291022,8 @@ xref: OMIM:616341 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="MONDO:subClassOf", source="OMIM:616341"} xref: Orphanet:3451 {source="MONDO:subClassOf", source="OMIM:616341"} xref: UMLS:C4225360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:616341", source="MONDO:Redundant", source="OMIM:616341"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11142 ! SIK1 @@ -291225,8 +291073,8 @@ xref: DOID:0080437 {source="MONDO:equivalentTo"} xref: OMIM:616346 {source="MONDO:equivalentTo"} xref: Orphanet:2382 {source="MONDO:subClassOf", source="OMIM:616346"} xref: UMLS:C4225357 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source="OMIM:616346"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2972 ! DNM1 @@ -291294,8 +291142,8 @@ synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_patte synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354] synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354] xref: DOID:0080066 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:397709", source="ORDO:397709/attributed", source="ORDO:397709/ntbt"} -xref: OMIM:616354 {source="Orphanet:397709", source="ORDO:397709/e", source="DOID:0080066", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:397709", source="Orphanet:397709/attributed", source="Orphanet:397709/ntbt"} +xref: OMIM:616354 {source="Orphanet:397709", source="DOID:0080066", source="MONDO:equivalentTo", source="Orphanet:397709/e"} xref: Orphanet:397709 {source="MONDO:equivalentTo", source="OMIM:616354"} xref: UMLS:C4225355 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397709", source="indirect"} ! syndromic intellectual disability @@ -291323,7 +291171,7 @@ synonym: "mental retardation, autosomal dominant 35" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 35" EXACT DEPRECATED [MONDORULE:2, OMIM:616355] synonym: "MRD35" EXACT ABBREVIATION [DOID:0070065, MONDO:Lexical, OMIM:616355] xref: DOID:0070065 {source="MONDO:equivalentTo"} -xref: OMIM:616355 {source="DOID:0070065", source="Orphanet:457279", source="MONDO:equivalentTo", source="ORDO:457279/e"} +xref: OMIM:616355 {source="DOID:0070065", source="Orphanet:457279", source="MONDO:equivalentTo", source="Orphanet:457279/e"} xref: Orphanet:457279 {source="MONDO:equivalentTo"} xref: UMLS:C4225354 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457279", source="indirect"} ! syndromic intellectual disability @@ -291343,8 +291191,7 @@ synonym: "autosomal dominant nonsyndromic deafness 40" NARROW CLINGEN_PREFERRED synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 40" NARROW [DOID:0110566, MONDORULE:2] synonym: "CRYM autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical, OMIM:616357] -synonym: "deafness, autosomal dominant 40" NARROW [OMIM:616357, OMIM:genemap2] +synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical, OMIM:616357, OMIM:genemap2] synonym: "deafness, autosomal dominant type 40" NARROW [MONDORULE:2, OMIM:616357] synonym: "DFNA40" NARROW ABBREVIATION [DOID:0110566, MONDO:Lexical, OMIM:616357] xref: DOID:0110566 {source="MONDO:equivalentTo"} @@ -291372,7 +291219,7 @@ xref: OMIM:616361 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="MONDO:subClassOf", source="OMIM:616361"} xref: UMLS:C4225353 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:616361", source="indirect"} ! Parkinson disease -is_a: MONDO:0008199 {source="MONDO:Redundant", source="ORDO:411602/btnt"} ! late-onset Parkinson disease +is_a: MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease intersection_of: MONDO:0008199 ! late-onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30343 ! DNAJC13 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30343 {source="mim2gene_medgen"} ! DNAJC13 @@ -291392,7 +291239,7 @@ synonym: "mental retardation, autosomal dominant 36" RELATED DEPRECATED [MONDO:L synonym: "mental retardation, autosomal dominant type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:616362] synonym: "MRD36" EXACT ABBREVIATION [DOID:0070066, MONDO:Lexical, OMIM:616362] xref: DOID:0070066 {source="MONDO:equivalentTo"} -xref: OMIM:616362 {source="DOID:0070066", source="MONDO:equivalentTo", source="ORDO:457284/e", source="Orphanet:457284"} +xref: OMIM:616362 {source="Orphanet:457284/e", source="DOID:0070066", source="MONDO:equivalentTo", source="Orphanet:457284"} xref: Orphanet:457284 {source="MONDO:equivalentTo"} xref: UMLS:C4225352 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457284", source="indirect"} ! syndromic intellectual disability @@ -291447,7 +291294,7 @@ synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pa xref: DOID:0080416 {source="MONDO:equivalentTo"} xref: OMIM:616366 {source="MONDO:equivalentTo"} xref: UMLS:C4225350 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616366", source="MONDO:Redundant", source="OMIM:616366"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6220 ! KCNA2 @@ -291463,8 +291310,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:443995"} synonym: "mandibulofacial dysostosis with alopecia" EXACT [MONDO:Lexical, OMIM:616367] synonym: "MFDA" EXACT ABBREVIATION [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995] xref: DOID:0060365 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.4 {source="Orphanet:443995", source="ORDO:443995/attributed", source="ORDO:443995/ntbt"} -xref: OMIM:616367 {source="DOID:0060365", source="ORDO:443995/e", source="Orphanet:443995", source="MONDO:equivalentTo"} +xref: ICD10CM:Q75.4 {source="Orphanet:443995/attributed", source="Orphanet:443995/ntbt", source="Orphanet:443995"} +xref: OMIM:616367 {source="DOID:0060365", source="Orphanet:443995", source="MONDO:equivalentTo", source="Orphanet:443995/e"} xref: Orphanet:443995 {source="MONDO:equivalentTo"} xref: UMLS:C4225349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0060365", source="MONDO:Redundant", source="indirect"} ! syndromic disease @@ -291484,8 +291331,8 @@ synonym: "CHOPS syndrome" EXACT [MONDO:Lexical, OMIM:616368, Orphanet:444077] synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" RELATED [OMIM:616368] xref: EFO:0009031 {source="MONDO:equivalentTo"} xref: GARD:0012845 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:444077/attributed", source="ORDO:444077/ntbt", source="Orphanet:444077"} -xref: OMIM:616368 {source="MONDO:equivalentTo", source="ORDO:444077/e", source="Orphanet:444077"} +xref: ICD10CM:Q87.8 {source="Orphanet:444077/attributed", source="Orphanet:444077/ntbt", source="Orphanet:444077"} +xref: OMIM:616368 {source="Orphanet:444077/e", source="MONDO:equivalentTo", source="Orphanet:444077"} xref: Orphanet:444077 {source="MONDO:equivalentTo"} xref: SCTID:764455002 {source="MONDO:equivalentTo"} xref: UMLS:C4085597 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -291517,7 +291364,7 @@ synonym: "MMDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [DOID:0080136, MONDORULE:1, OMIM:616370] xref: DOID:0080136 {source="MONDO:equivalentTo"} -xref: OMIM:616370 {source="ORDO:457406/e", source="DOID:0080136", source="MONDO:equivalentTo", source="Orphanet:457406"} +xref: OMIM:616370 {source="DOID:0080136", source="MONDO:equivalentTo", source="Orphanet:457406", source="Orphanet:457406/e"} xref: Orphanet:457406 {source="MONDO:equivalentTo"} xref: UMLS:C4225348 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder @@ -291546,7 +291393,7 @@ is_a: MONDO:0000148 {source="DC-OMIM:616371", source="OMIM:616371", source="indi intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8609 ! PARN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8609 {source="mim2gene_medgen"} ! PARN -relationship: excluded_subClassOf MONDO:0008345 {source="ORDO:2032/btnt"} ! idiopathic pulmonary fibrosis +relationship: excluded_subClassOf MONDO:0008345 {source="Orphanet:2032/btnt"} ! idiopathic pulmonary fibrosis property_value: confidence "0.5823588235294124" xsd:double [Term] @@ -291566,7 +291413,7 @@ is_a: MONDO:0000148 {source="DC-OMIM:616373", source="OMIM:616373", source="indi intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15888 ! RTEL1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15888 {source="mim2gene_medgen"} ! RTEL1 -relationship: excluded_subClassOf MONDO:0008345 {source="ORDO:2032/btnt"} ! idiopathic pulmonary fibrosis +relationship: excluded_subClassOf MONDO:0008345 {source="Orphanet:2032/btnt"} ! idiopathic pulmonary fibrosis property_value: confidence "0.5823588235294124" xsd:double [Term] @@ -291722,7 +291569,7 @@ subset: ordo_disease {source="Orphanet:448264"} synonym: "FNEPPK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616400] synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2" RELATED [MONDO:Lexical, OMIM:616400] synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 2" EXACT [MONDORULE:1, OMIM:616400] -xref: OMIM:616400 {source="MONDO:equivalentTo", source="ORDO:448264/e", source="Orphanet:448264"} +xref: OMIM:616400 {source="Orphanet:448264/e", source="MONDO:equivalentTo", source="Orphanet:448264"} xref: Orphanet:448264 {source="MONDO:equivalentTo"} xref: UMLS:C4225339 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017673 {source="Orphanet:448264"} ! isolated focal palmoplantar keratoderma @@ -291786,7 +291633,7 @@ synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2 xref: DOID:0080463 {source="MONDO:equivalentTo"} xref: OMIM:616409 {source="MONDO:equivalentTo"} xref: UMLS:C4225337 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616409", source="MONDO:Redundant", source="OMIM:616409"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3192 ! EEF1A2 @@ -291804,8 +291651,8 @@ synonym: "spinocerebellar ataxia 41" RELATED [MONDO:Lexical, OMIM:616410] synonym: "spinocerebellar ataxia type 41" EXACT [MONDORULE:2, OMIM:616410] xref: DOID:0111744 {source="MONDO:equivalentTo"} xref: EFO:0009058 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.2 {source="Orphanet:458798", source="ORDO:458798/attributed", source="ORDO:458798/ntbt"} -xref: OMIM:616410 {source="Orphanet:458798", source="ORDO:458798/e", source="MONDO:equivalentTo"} +xref: ICD10CM:G11.2 {source="Orphanet:458798", source="Orphanet:458798/attributed", source="Orphanet:458798/ntbt"} +xref: OMIM:616410 {source="Orphanet:458798", source="MONDO:equivalentTo", source="Orphanet:458798/e"} xref: Orphanet:458798 {source="MONDO:equivalentTo"} xref: UMLS:C4225158 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019793 {source="EFO:0009058", source="Orphanet:458798"} ! autosomal dominant cerebellar ataxia type III @@ -291824,8 +291671,8 @@ synonym: "dystonic disorder caused by mutation in COL6A3" EXACT [MONDO:design_pa synonym: "DYT27" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616411] synonym: "primary dystonia, DYT27 type" RELATED [Orphanet:464440] xref: DOID:0090050 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.1 {source="Orphanet:464440", source="ORDO:464440/attributed", source="ORDO:464440/ntbt", source="DOID:0090050"} -xref: OMIM:616411 {source="Orphanet:464440", source="MONDO:equivalentTo", source="DOID:0090050", source="ORDO:464440/e"} +xref: ICD10CM:G24.1 {source="Orphanet:464440", source="Orphanet:464440/attributed", source="Orphanet:464440/ntbt", source="DOID:0090050"} +xref: OMIM:616411 {source="Orphanet:464440", source="MONDO:equivalentTo", source="Orphanet:464440/e", source="DOID:0090050"} xref: Orphanet:464440 {source="MONDO:equivalentTo", source="DOID:0090050"} xref: UMLS:C4225336 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000479 {source="DOID:0090050"} ! segmental dystonia @@ -291848,7 +291695,7 @@ synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pat xref: OMIM:616413 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="MONDO:subClassOf", source="OMIM:616413"} xref: UMLS:C4225335 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:616413", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis +is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:616413", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis intersection_of: MONDO:0008947 ! bilateral striopallidodentate calcinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12827 ! XPR1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12827 {source="mim2gene_medgen"} ! XPR1 @@ -291865,8 +291712,8 @@ synonym: "AILJK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616414] synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical, OMIM:616414] synonym: "copa defect" EXACT [Orphanet:444092] synonym: "copa syndrome" EXACT [Orphanet:444092] -xref: ICD10CM:J84.8 {source="ORDO:444092/attributed", source="ORDO:444092/ntbt", source="Orphanet:444092"} -xref: OMIM:616414 {source="MONDO:equivalentTo", source="Orphanet:444092", source="ORDO:444092/e"} +xref: ICD10CM:J84.8 {source="Orphanet:444092", source="Orphanet:444092/attributed", source="Orphanet:444092/ntbt"} +xref: OMIM:616414 {source="MONDO:equivalentTo", source="Orphanet:444092", source="Orphanet:444092/e"} xref: Orphanet:444092 {source="MONDO:equivalentTo"} xref: UMLS:C0231330 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4225334 {source="MONDO:equivalentTo"} @@ -291887,8 +291734,8 @@ synonym: "FAP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616415] synonym: "NTHL1-related AFAP" EXACT [Orphanet:454840] synonym: "NTHL1-related attenuated familial adenomatous polyposis" EXACT CLINGEN_PREFERRED [] synonym: "NTHL1-related attenuated FAP" EXACT [Orphanet:454840] -xref: ICD10CM:D12.6 {source="Orphanet:454840", source="ORDO:454840/attributed", source="ORDO:454840/ntbt"} -xref: OMIM:616415 {source="Orphanet:454840", source="ORDO:454840/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D12.6 {source="Orphanet:454840", source="Orphanet:454840/attributed", source="Orphanet:454840/ntbt"} +xref: OMIM:616415 {source="Orphanet:454840", source="MONDO:equivalentTo", source="Orphanet:454840/e"} xref: Orphanet:454840 {source="MONDO:equivalentTo"} xref: UMLS:C4225157 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:454840"} ! attenuated familial adenomatous polyposis @@ -291905,7 +291752,7 @@ synonym: "hypomagnesemia, seizures, and mental retardation" EXACT DEPRECATED [MO xref: OMIMPS:616418 {source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="MONDO:subClassOf", source="OMIM:616418"} xref: UMLS:C4225333 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia +is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia relationship: has_modifier MONDO:0021152 {source="OMIMPS:616418"} ! inherited property_value: confidence "5.000000000000001" xsd:double @@ -291935,7 +291782,7 @@ synonym: "myoclonic-atonic epilepsy" EXACT [MONDO:Lexical, OMIM:616421] xref: OMIM:616421 {source="MONDO:equivalentTo"} xref: Orphanet:1942 {source="MONDO:subClassOf", source="OMIM:616421"} xref: UMLS:C4085238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016025 {source="ORDO:1942/btnt"} ! myoclonic-astastic epilepsy +is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astastic epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11042 {source="mim2gene_medgen"} ! SLC6A1 property_value: confidence "6.200000000000001" xsd:double @@ -291953,8 +291800,8 @@ xref: OMIM:616425 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="MONDO:subClassOf", source="OMIM:616425"} xref: Orphanet:251510 {source="MONDO:subClassOf", source="OMIM:616425"} xref: UMLS:C4225331 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0010765 {source="OMIM:616425", source="ORDO:242/btnt"} ! 46,XY complete gonadal dysgenesis -is_a: MONDO:0016674 {source="ORDO:251510/btnt"} ! 46,XY partial gonadal dysgenesis +is_a: MONDO:0010765 {source="OMIM:616425", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11204 {source="mim2gene_medgen"} ! SOX9 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 property_value: confidence "1.0498438571428572" xsd:double @@ -291971,7 +291818,7 @@ synonym: "RBP4 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_patt xref: OMIM:616428 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:616428"} xref: UMLS:C4225330 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000170 {source="MONDO:0014635/inferred", source="MONDO:Redundant", source="OMIM:616428", source="ORDO:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma +is_a: MONDO:0000170 {source="MONDO:0014635/inferred", source="MONDO:Redundant", source="OMIM:616428", source="Orphanet:98938/btnt", source="indirect"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9922 ! RBP4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9922 {source="mim2gene_medgen"} ! RBP4 @@ -291989,8 +291836,8 @@ synonym: "COXPD25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616430, Orphanet:4479 synonym: "MARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111468 {source="MONDO:equivalentTo"} xref: EFO:0009035 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.8 {source="Orphanet:447954", source="ORDO:447954/attributed", source="ORDO:447954/ntbt"} -xref: OMIM:616430 {source="Orphanet:447954", source="ORDO:447954/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.8 {source="Orphanet:447954", source="Orphanet:447954/attributed", source="Orphanet:447954/ntbt"} +xref: OMIM:616430 {source="Orphanet:447954", source="MONDO:equivalentTo", source="Orphanet:447954/e"} xref: Orphanet:447954 {source="MONDO:equivalentTo"} xref: UMLS:C4225329 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616430", source="MONDO:Redundant", source="OMIM:616430"} ! combined oxidative phosphorylation deficiency @@ -292011,8 +291858,8 @@ synonym: "IMD40" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616433] synonym: "immunodeficiency 40" RELATED [MONDO:Lexical, OMIM:616433] synonym: "immunodeficiency type 40" EXACT [MONDORULE:2, OMIM:616433] xref: GARD:0012653 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.8 {source="ORDO:447737/attributed", source="ORDO:447737/ntbt", source="Orphanet:447737"} -xref: OMIM:616433 {source="ORDO:447737/e", source="MONDO:equivalentTo", source="Orphanet:447737"} +xref: ICD10CM:D81.8 {source="Orphanet:447737", source="Orphanet:447737/attributed", source="Orphanet:447737/ntbt"} +xref: OMIM:616433 {source="MONDO:equivalentTo", source="Orphanet:447737", source="Orphanet:447737/e"} xref: Orphanet:447737 {source="MONDO:equivalentTo"} xref: UMLS:C4225328 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018814 {source="Orphanet:447737"} ! non-SCID combined immunodeficiency @@ -292069,8 +291916,8 @@ xref: Orphanet:275872 {source="MONDO:subClassOf", source="OMIM:616437"} xref: Orphanet:803 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:616437"} xref: UMLS:C4225326 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:616437"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017160 {source="ORDO:275864/btnt"} ! behavioral variant of frontotemporal dementia -is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:616437", source="ORDO:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017160 {source="Orphanet:275864/btnt"} ! behavioral variant of frontotemporal dementia +is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:616437", source="Orphanet:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:616437"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11280 {source="mim2gene_medgen"} ! SQSTM1 property_value: confidence "0.028571428571429136" xsd:double @@ -292087,7 +291934,7 @@ xref: OMIM:616439 {source="MONDO:equivalentTo", source="DOID:0110069"} xref: Orphanet:275872 {source="MONDO:subClassOf", source="OMIM:616439"} xref: UMLS:C4225325 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005144 {source="OMIM:616439"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:616439", source="ORDO:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="MONDO:cjm", source="OMIM:616439", source="Orphanet:275872/btnt", source="indirect"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:616439"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11584 {source="mim2gene_medgen"} ! TBK1 property_value: confidence "0.028571428571429136" xsd:double @@ -292116,7 +291963,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:464738"} synonym: "Basel-Vanagait-Smirin-Yosef syndrome" EXACT [OMIM:616449, OMIM:genemap2] synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical, OMIM:616449] synonym: "BVSYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616449] -xref: OMIM:616449 {source="MONDO:equivalentTo", source="ORDO:464738/e", source="Orphanet:464738"} +xref: OMIM:616449 {source="Orphanet:464738/e", source="MONDO:equivalentTo", source="Orphanet:464738"} xref: Orphanet:464738 {source="MONDO:equivalentTo"} xref: UMLS:C4225323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464738", source="indirect"} ! syndromic intellectual disability @@ -292162,7 +292009,7 @@ synonym: "B-cell expansion with NF-kB and T-cell anergy disease" EXACT [GARD:001 synonym: "B-cell expansion with NFKB and T-cell anergy" RELATED [GARD:0013339, MONDO:Lexical, OMIM:616452] synonym: "BENTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616452] xref: GARD:0013339 {source="MONDO:equivalentTo"} -xref: OMIM:616452 {source="ORDO:464336/e", source="MONDO:equivalentTo", source="Orphanet:464336"} +xref: OMIM:616452 {source="MONDO:equivalentTo", source="Orphanet:464336", source="Orphanet:464336/e"} xref: Orphanet:464336 {source="MONDO:equivalentTo"} xref: UMLS:CN231446 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN242071 {source="MONDO:equivalentTo"} @@ -292182,7 +292029,7 @@ synonym: "ZLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616455] xref: OMIM:616455 {source="MONDO:equivalentTo"} xref: Orphanet:3473 {source="MONDO:subClassOf", source="OMIM:616455"} xref: UMLS:C4225321 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:616455", source="ORDO:3473/btnt"} ! Zimmermann-Laband syndrome +is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:616455", source="Orphanet:3473/btnt"} ! Zimmermann-Laband syndrome intersection_of: MONDO:0000200 ! Zimmermann-Laband syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/854 ! ATP6V1B2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/854 {source="mim2gene_medgen"} ! ATP6V1B2 @@ -292205,8 +292052,8 @@ synonym: "developmental and epileptic encephalopathy 50" EXACT [OMIM:616457, OMI synonym: "EIEE50" EXACT ABBREVIATION [OMIM:616457] synonym: "epileptic encephalopathy, early infantile, 50" EXACT [OMIM:616457] xref: DOID:0080419 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:448010/attributed", source="ORDO:448010/ntbt", source="Orphanet:448010"} -xref: OMIM:616457 {source="MONDO:equivalentTo", source="Orphanet:448010", source="ORDO:448010/e"} +xref: ICD10CM:E77.8 {source="Orphanet:448010", source="Orphanet:448010/attributed", source="Orphanet:448010/ntbt"} +xref: OMIM:616457 {source="MONDO:equivalentTo", source="Orphanet:448010", source="Orphanet:448010/e"} xref: Orphanet:448010 {source="MONDO:equivalentTo"} xref: UMLS:C4225320 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:616457"} ! congenital disorder of glycosylation type I @@ -292361,7 +292208,7 @@ xref: OMIM:616479 {source="MONDO:equivalentTo"} xref: Orphanet:329336 {source="MONDO:subClassOf", source="OMIM:616479"} xref: UMLS:C4225312 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="DC-OMIM:616479", source="MONDO:Redundant", source="OMIM:616479"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0018002 {source="ORDO:329336/btnt"} ! adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy +is_a: MONDO:0018002 {source="Orphanet:329336/btnt"} ! adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18466 ! RNASEH1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18466 {source="mim2gene_medgen"} ! RNASEH1 @@ -292400,14 +292247,14 @@ synonym: "SADDAN dysplasia" EXACT [DOID:0111158, OMIM:616482] synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [DOID:0111158] xref: DOID:0111158 {source="MONDO:equivalentTo"} xref: GARD:0009443 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.4 {source="MONDO:directSiblingOf", source="ORDO:85165/attributed", source="ORDO:85165/ntbt", source="Orphanet:85165"} +xref: ICD10CM:Q77.4 {source="Orphanet:85165/attributed", source="Orphanet:85165/ntbt", source="MONDO:directSiblingOf", source="Orphanet:85165"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:783.40 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:616482 {source="MONDO:equivalentTo", source="ORDO:85165/e", source="Orphanet:85165", source="DOID:0111158"} +xref: OMIM:616482 {source="Orphanet:85165/e", source="MONDO:equivalentTo", source="Orphanet:85165", source="DOID:0111158"} xref: Orphanet:85165 {source="MONDO:equivalentTo", source="OMIM:616482", source="DOID:0111158"} xref: PMID:10053006 {source="DOID:0111158"} xref: SCTID:699870002 {source="MONDO:equivalentTo", source="DOID:0111158"} -xref: UMLS:C2674173 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:85165/e", source="Orphanet:85165", source="DOID:0111158"} +xref: UMLS:C2674173 {source="Orphanet:85165/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85165", source="DOID:0111158"} is_a: MONDO:0000426 {source="DOID:0111158", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease @@ -292429,7 +292276,7 @@ synonym: "infantile liver failure syndrome 2" EXACT [MONDO:Lexical, OMIM:616483] synonym: "infantile liver failure syndrome type 2" EXACT [MONDORULE:1, OMIM:616483] synonym: "NBAS infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:0013113 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: OMIM:616483 {source="MONDO:equivalentTo", source="Orphanet:464724", source="ORDO:464724/e"} +xref: OMIM:616483 {source="MONDO:equivalentTo", source="Orphanet:464724", source="Orphanet:464724/e"} xref: UMLS:CN232144 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000023 {source="DC-OMIM:616483", source="MONDO:Redundant", source="OMIM:616483"} ! infantile liver failure is_a: MONDO:0015508 {source="Orphanet:464724", source="indirect"} ! genetic parenchymatous liver disease @@ -292537,8 +292384,8 @@ synonym: "CMT2V" EXACT ABBREVIATION [DOID:0110178, MONDO:Lexical, OMIM:616491, O synonym: "hereditary adult-onset painful axonal polyneuropathy" EXACT [Orphanet:447964] synonym: "NAGLU Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110178 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:447964", source="ORDO:447964/attributed", source="ORDO:447964/ntbt"} -xref: OMIM:616491 {source="ORDO:447964/e", source="Orphanet:447964", source="MONDO:equivalentTo", source="DOID:0110178"} +xref: ICD10CM:G60.0 {source="Orphanet:447964/attributed", source="Orphanet:447964/ntbt", source="Orphanet:447964"} +xref: OMIM:616491 {source="Orphanet:447964", source="MONDO:equivalentTo", source="Orphanet:447964/e", source="DOID:0110178"} xref: Orphanet:447964 {source="MONDO:equivalentTo", source="DOID:0110178"} xref: UMLS:C4225306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110178/inferred", source="MONDO:Redundant", source="OMIM:616491", source="Orphanet:447964/inferred"} ! Charcot-Marie-Tooth disease @@ -292564,7 +292411,7 @@ xref: OMIM:616494 {source="DOID:0060792", source="MONDO:equivalentTo"} xref: Orphanet:88637 {source="MONDO:subClassOf", source="OMIM:616494"} xref: UMLS:C4225305 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="DOID", source="DOID:0060792", source="DOID:0060792/inferred", source="MONDO:Redundant", source="OMIM:616494"} ! leukodystrophy -is_a: MONDO:0019505 {source="ORDO:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome +is_a: MONDO:0019505 {source="Orphanet:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20194 ! POLR1C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20194 {source="mim2gene_medgen"} ! POLR1C @@ -292666,7 +292513,7 @@ xref: OMIM:616505 {source="MONDO:equivalentTo"} xref: Orphanet:90120 {source="MONDO:subClassOf", source="OMIM:616505"} xref: UMLS:C4225302 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002316 {source="DC-OMIM:616505"} ! motor peripheral neuropathy -is_a: MONDO:0019551 {source="MONDO:Redundant", source="ORDO:90120/btnt"} ! hereditary motor and sensory neuropathy type 6 +is_a: MONDO:0019551 {source="MONDO:Redundant", source="Orphanet:90120/btnt"} ! hereditary motor and sensory neuropathy type 6 intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25198 ! SLC25A46 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25198 {source="mim2gene_medgen"} ! SLC25A46 @@ -292708,7 +292555,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:616509"} xref: Orphanet:98994 {source="MONDO:subClassOf", source="OMIM:616509", source="MONDO:directSiblingOf", source="DOID:0110267"} xref: UMLS:C4225300 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110267", source="MONDO:Redundant", source="OMIM:616509", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6708 ! LSS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6708 {source="mim2gene_medgen"} ! LSS @@ -292739,8 +292586,7 @@ synonym: "autosomal recessive deafness 104" NARROW [DOID:0110465] synonym: "autosomal recessive nonsyndromic deafness 104" NARROW [OMIM:616515] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 104" NARROW [DOID:0110465, MONDORULE:2] -synonym: "deafness, autosomal recessive 104" NARROW [OMIM:616515, OMIM:genemap2] -synonym: "deafness, autosomal recessive 104" NARROW [MONDO:Lexical, OMIM:616515] +synonym: "deafness, autosomal recessive 104" NARROW [MONDO:Lexical, OMIM:616515, OMIM:genemap2] synonym: "deafness, autosomal recessive type 104" NARROW [MONDORULE:2, OMIM:616515] synonym: "DFNB104" NARROW ABBREVIATION [DOID:0110465, MONDO:Lexical, OMIM:616515] synonym: "RIPOR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -292770,7 +292616,7 @@ xref: OMIM:616516 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:616516"} xref: Orphanet:98855 {source="MONDO:subClassOf", source="OMIM:616516"} xref: UMLS:C2750035 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008406 {source="MONDO:Redundant", source="ORDO:98855/btnt"} ! autosomal recessive Emery-Dreifuss muscular dystrophy +is_a: MONDO:0008406 {source="MONDO:Redundant", source="Orphanet:98855/btnt"} ! autosomal recessive Emery-Dreifuss muscular dystrophy is_a: MONDO:0016830 {source="MESH:C567633", source="MONDO:Redundant", source="OMIM:616516", source="indirect"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy intersection_of: MONDO:0008406 ! autosomal recessive Emery-Dreifuss muscular dystrophy @@ -292836,7 +292682,7 @@ xref: OMIM:616531 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="MONDO:subClassOf", source="OMIM:616531"} xref: Orphanet:98889 {source="MONDO:subClassOf", source="OMIM:616531"} xref: UMLS:C4225295 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020340 {source="ORDO:98889/btnt"} ! bilateral perisylvian polymicrogyria +is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8983 {source="mim2gene_medgen"} ! PI4KA property_value: confidence "0.11111111111111094" xsd:double @@ -292858,7 +292704,7 @@ xref: OMIM:616532 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="MONDO:subClassOf", source="OMIM:616532"} xref: UMLS:C4225294 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000166 {source="MONDO:Redundant", source="OMIM:616532", source="indirect"} ! encephalopathy, acute, infection-induced -is_a: MONDO:0012521 {source="MONDO:Redundant", source="ORDO:1930/btnt"} ! herpes simplex encephalitis +is_a: MONDO:0012521 {source="MONDO:Redundant", source="Orphanet:1930/btnt"} ! herpes simplex encephalitis intersection_of: MONDO:0012521 ! herpes simplex encephalitis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6118 ! IRF3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6118 {source="mim2gene_medgen"} ! IRF3 @@ -292877,7 +292723,7 @@ xref: OMIM:616534 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:616534"} xref: UMLS:C4225293 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005034 ! thyroid gland follicular carcinoma -is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma +is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma is_a: MONDO:0017896 {source="MONDO:Redundant", source="OMIM:616534"} ! familial nonmedullary thyroid carcinoma intersection_of: MONDO:0017896 ! familial nonmedullary thyroid carcinoma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3806 ! FOXE1 @@ -292897,7 +292743,7 @@ xref: OMIM:616535 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:616535"} xref: UMLS:C4225292 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005034 ! thyroid gland follicular carcinoma -is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma +is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma is_a: MONDO:0017896 {source="MONDO:Redundant", source="OMIM:616535"} ! familial nonmedullary thyroid carcinoma intersection_of: MONDO:0017896 ! familial nonmedullary thyroid carcinoma intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4798 ! HABP2 @@ -292915,7 +292761,7 @@ xref: OMIM:616538 {source="MONDO:equivalentTo"} xref: Orphanet:370997 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="OMIM:616538"} xref: Orphanet:899 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:616538"} xref: UMLS:C4225291 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000171 {source="OMIM:616538", source="ORDO:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A +is_a: MONDO:0000171 {source="OMIM:616538", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2666 {source="mim2gene_medgen"} ! DAG1 property_value: confidence "0.5294117647058822" xsd:double @@ -292955,8 +292801,8 @@ synonym: "progressive myoclonic epilepsy caused by mutation in LMNB2" EXACT [MON synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [Orphanet:457265] synonym: "progressive myoclonus epilepsy type 9" EXACT [Orphanet:457265] xref: DOID:0111450 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:457265", source="ORDO:457265/attributed", source="ORDO:457265/ntbt"} -xref: OMIM:616540 {source="MONDO:equivalentTo", source="Orphanet:457265", source="ORDO:457265/e"} +xref: ICD10CM:G40.3 {source="Orphanet:457265/attributed", source="Orphanet:457265/ntbt", source="Orphanet:457265"} +xref: OMIM:616540 {source="Orphanet:457265/e", source="MONDO:equivalentTo", source="Orphanet:457265"} xref: Orphanet:457265 {source="MONDO:equivalentTo"} xref: UMLS:C4225289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020074 {source="DC-OMIM:616540", source="MONDO:Redundant", source="OMIM:616540", source="Orphanet:457265"} ! progressive myoclonus epilepsy @@ -292972,7 +292818,7 @@ synonym: "short stature, microcephaly, and endocrine dysfunction" EXACT [MONDO:L synonym: "SSMED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616541] xref: OMIM:616541 {source="MONDO:equivalentTo"} xref: UMLS:C4225288 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018575 {source="ORDO:436182/btnt"} ! microcephalic primordial dwarfism-insulin resistance syndrome +is_a: MONDO:0018575 {source="Orphanet:436182/btnt"} ! microcephalic primordial dwarfism-insulin resistance syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12831 {source="mim2gene_medgen"} ! XRCC4 property_value: confidence "0.33333333333333326" xsd:double @@ -293018,8 +292864,8 @@ synonym: "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" EXACT CLING synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:616549] synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" RELATED [OMIM:616549] xref: DOID:0080592 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q76.1 {source="MONDO:subClassOf", source="Orphanet:447974", source="ORDO:447974/attributed", source="ORDO:447974/ntbt"} -xref: OMIM:616549 {source="Orphanet:447974", source="ORDO:447974/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q76.1 {source="MONDO:subClassOf", source="Orphanet:447974", source="Orphanet:447974/attributed", source="Orphanet:447974/ntbt"} +xref: OMIM:616549 {source="Orphanet:447974", source="MONDO:equivalentTo", source="Orphanet:447974/e"} xref: Orphanet:447974 {source="MONDO:equivalentTo"} xref: UMLS:C4225285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001029 {source="OMIM:616549"} ! Klippel-Feil syndrome @@ -293044,7 +292890,7 @@ xref: Orphanet:3322 {source="MONDO:subClassOf", source="MONDO:relatedTo", source xref: Orphanet:397692 {source="MONDO:subClassOf", source="OMIM:616553"} xref: UMLS:C4225284 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015780 {source="DOID:0070023", source="MONDO:Redundant", source="OMIM:616553"} ! dyskeratosis congenita -is_a: MONDO:0018340 {source="ORDO:397692/btnt"} ! hereditary isolated aplastic anemia +is_a: MONDO:0018340 {source="Orphanet:397692/btnt"} ! hereditary isolated aplastic anemia intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25070 ! ACD intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -293122,7 +292968,7 @@ xref: OMIM:616566 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="MONDO:subClassOf", source="OMIM:616566"} xref: UMLS:C4225279 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:616566", source="indirect"} ! spondylocostal dysostosis -is_a: MONDO:0010180 {source="MONDO:Redundant", source="ORDO:2311/btnt"} ! autosomal recessive spondylocostal dysostosis +is_a: MONDO:0010180 {source="MONDO:Redundant", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21390 ! RIPPLY2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21390 {source="mim2gene_medgen"} ! RIPPLY2 @@ -293192,7 +293038,7 @@ synonym: "epilepsy, hearing loss, and intellectual disability syndrome" RELATED synonym: "epilepsy, hearing loss, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:616577] synonym: "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome" EXACT [Orphanet:457351] synonym: "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" EXACT [OMIM:616577, OMIM:genemap2] -xref: OMIM:616577 {source="MONDO:equivalentTo", source="Orphanet:457351", source="ORDO:457351/e"} +xref: OMIM:616577 {source="Orphanet:457351/e", source="MONDO:equivalentTo", source="Orphanet:457351"} xref: Orphanet:457351 {source="MONDO:equivalentTo"} xref: UMLS:C4225276 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:457351"} ! syndromic intellectual disability @@ -293235,7 +293081,7 @@ synonym: "AU-Kline syndrome" RELATED [MONDO:Lexical, OMIM:616580] synonym: "Au-Kline syndrome" EXACT [Orphanet:453504] synonym: "AUKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616580] synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" EXACT CLINGEN_PREFERRED [] -xref: OMIM:616580 {source="MONDO:equivalentTo", source="Orphanet:453504", source="ORDO:453504/e"} +xref: OMIM:616580 {source="MONDO:equivalentTo", source="Orphanet:453504", source="Orphanet:453504/e"} xref: Orphanet:453504 {source="MONDO:equivalentTo"} xref: UMLS:C4225274 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN237748 {source="MONDO:equivalentTo"} @@ -293252,8 +293098,8 @@ subset: ordo_disease {source="Orphanet:459051"} synonym: "SED, Stanescu type" EXACT [OMIM:616583, Orphanet:459051] synonym: "SEDSTN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616583] synonym: "spondyloepiphyseal dysplasia, Stanescu type" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:616583] -xref: ICD10CM:Q77.7 {source="ORDO:459051/attributed", source="ORDO:459051/ntbt", source="Orphanet:459051"} -xref: OMIM:616583 {source="ORDO:459051/e", source="MONDO:equivalentTo", source="Orphanet:459051"} +xref: ICD10CM:Q77.7 {source="Orphanet:459051", source="Orphanet:459051/attributed", source="Orphanet:459051/ntbt"} +xref: OMIM:616583 {source="MONDO:equivalentTo", source="Orphanet:459051", source="Orphanet:459051/e"} xref: Orphanet:459051 {source="MONDO:equivalentTo"} xref: UMLS:C4225273 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:459051"} ! spondyloepiphyseal dysplasia @@ -293277,8 +293123,8 @@ synonym: "hereditary spastic paraplegia type 9B" EXACT [DOID:0110825, MONDORULE: synonym: "spastic paraplegia 9B, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616586] synonym: "SPG9B" EXACT ABBREVIATION [DOID:0110825, MONDO:Lexical, OMIM:616586] xref: DOID:0110825 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:447760/attributed", source="ORDO:447760/ntbt", source="DOID:0110825", source="Orphanet:447760"} -xref: OMIM:616586 {source="MONDO:equivalentTo", source="DOID:0110825", source="ORDO:447760/e", source="Orphanet:447760"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110825", source="Orphanet:447760/attributed", source="Orphanet:447760/ntbt", source="Orphanet:447760"} +xref: OMIM:616586 {source="Orphanet:447760/e", source="MONDO:equivalentTo", source="DOID:0110825", source="Orphanet:447760"} xref: Orphanet:447760 {source="MONDO:equivalentTo", source="DOID:0110825"} xref: UMLS:C4225272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:447760"} ! syndromic intellectual disability @@ -293302,7 +293148,7 @@ synonym: "AOS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616589] synonym: "DLL4 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616589 {source="MONDO:equivalentTo"} xref: UMLS:C4225271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616589", source="ORDO:974/btnt"} ! Adams-Oliver syndrome +is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616589", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome intersection_of: MONDO:0007034 ! Adams-Oliver syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2910 ! DLL4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2910 {source="mim2gene_medgen"} ! DLL4 @@ -293334,9 +293180,9 @@ synonym: "ZIC1 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/dis xref: OMIM:616602 {source="MONDO:equivalentTo"} xref: UMLS:C4225269 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:616602", source="indirect"} ! craniosynostosis -is_a: MONDO:0018113 {source="ORDO:35098/btnt"} ! isolated plagiocephaly -is_a: MONDO:0018114 {source="ORDO:35099/btnt"} ! isolated brachycephaly -is_a: MONDO:0018971 {source="ORDO:63440/btnt"} ! isolated oxycephaly +is_a: MONDO:0018113 {source="Orphanet:35098/btnt"} ! isolated plagiocephaly +is_a: MONDO:0018114 {source="Orphanet:35099/btnt"} ! isolated brachycephaly +is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly intersection_of: MONDO:0015469 ! craniosynostosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12872 ! ZIC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12872 {source="mim2gene_medgen"} ! ZIC1 @@ -293354,7 +293200,7 @@ xref: DOID:0070131 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="DOID:0070131"} xref: OMIM:616603 {source="DOID:0070131", source="MONDO:equivalentTo"} xref: UMLS:C4225268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019571 {source="DOID:0070131", source="MONDO:Redundant", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa +is_a: MONDO:0019571 {source="DOID:0070131", source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency is_a: MONDO:0100237 {source="DOID:0070131/inferred", source="MONDO:Redundant", source="OMIM:616603", source="indirect"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa @@ -293398,13 +293244,13 @@ synonym: "RING chromosome 14 syndrome" RELATED [OMIM:616606] synonym: "ring chromosome 14 syndrome, isolated cases" EXACT [OMIM:616606, OMIM:genemap2] synonym: "Ring chromosome type 14" EXACT [MONDORULE:2, Orphanet:1440] xref: GARD:0006072 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:1440", source="ORDO:1440/attributed", source="ORDO:1440/ntbt"} +xref: ICD10CM:Q93.2 {source="Orphanet:1440", source="Orphanet:1440/attributed", source="Orphanet:1440/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535487 {source="Orphanet:1440", source="ORDO:1440/e", source="MONDO:equivalentTo"} -xref: OMIM:616606 {source="Orphanet:1440", source="ORDO:1440/e", source="MONDO:equivalentTo"} +xref: MESH:C535487 {source="Orphanet:1440", source="MONDO:equivalentTo", source="Orphanet:1440/e"} +xref: OMIM:616606 {source="Orphanet:1440", source="MONDO:equivalentTo", source="Orphanet:1440/e"} xref: Orphanet:1440 {source="MONDO:equivalentTo"} xref: SCTID:702345009 {source="MONDO:equivalentTo"} -xref: UMLS:C2930916 {source="Orphanet:1440", source="ORDO:1440/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2930916 {source="Orphanet:1440", source="Orphanet:1440/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN233170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005027 {source="MONDO:0015652-obsoleted"} ! epilepsy intersection_of: MONDO:0700091 ! ring chromosome disorder @@ -293506,7 +293352,7 @@ synonym: "porokeratosis 9, multiple types; POROK9" EXACT [] xref: OMIM:616631 {source="MONDO:equivalentTo"} xref: UMLS:C4225262 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:616631", source="indirect"} ! porokeratosis -is_a: MONDO:0019212 {source="ORDO:79152/btnt"} ! disseminated superficial actinic porokeratosis +is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis intersection_of: MONDO:0006602 ! porokeratosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3631 ! FDPS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3631 {source="mim2gene_medgen"} ! FDPS @@ -293539,8 +293385,8 @@ synonym: "IMD44" EXACT ABBREVIATION [OMIM:616636] synonym: "immunodeficiency 44" EXACT [OMIM:616636] synonym: "immunodeficiency type 44" EXACT [MONDORULE:2, OMIM:616636] synonym: "primary immunodeficiency with post-MMR vaccine viral infection" EXACT [Orphanet:431166] -xref: ICD10CM:D84.8 {source="Orphanet:431166", source="ORDO:431166/attributed", source="ORDO:431166/ntbt"} -xref: OMIM:616636 {source="Orphanet:431166", source="ORDO:431166/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D84.8 {source="Orphanet:431166", source="Orphanet:431166/attributed", source="Orphanet:431166/ntbt"} +xref: OMIM:616636 {source="Orphanet:431166", source="MONDO:equivalentTo", source="Orphanet:431166/e"} xref: OMIM:616669 {source="Orphanet:431166", source="MONDO:superClassOf"} xref: Orphanet:431166 {source="MONDO:equivalentTo"} xref: UMLS:C4225260 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -293559,7 +293405,7 @@ synonym: "SKS" RELATED ABBREVIATION [OMIM:616638] synonym: "SMITH-Kingsmore syndrome" RELATED [OMIM:616638] synonym: "Smith-Kingsmore syndrome" EXACT [OMIM:616638] xref: EFO:0009050 {source="MONDO:equivalentTo"} -xref: OMIM:616638 {source="MONDO:equivalentTo", source="Orphanet:457485", source="ORDO:457485/e"} +xref: OMIM:616638 {source="Orphanet:457485/e", source="MONDO:equivalentTo", source="Orphanet:457485"} xref: Orphanet:457485 {source="MONDO:equivalentTo"} xref: UMLS:C4225259 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457485", source="indirect"} ! syndromic intellectual disability @@ -293578,8 +293424,8 @@ synonym: "epilepsy, progressive myoclonic, 10" EXACT [OMIM:616640] synonym: "epilepsy, progressive myoclonic, type 10" EXACT [MONDORULE:2, OMIM:616640] synonym: "EPM10" EXACT ABBREVIATION [OMIM:616640] xref: DOID:0111445 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="ORDO:324290/attributed", source="ORDO:324290/ntbt", source="Orphanet:324290"} -xref: OMIM:616640 {source="ORDO:324290/e", source="MONDO:equivalentTo", source="Orphanet:324290"} +xref: ICD10CM:G40.3 {source="Orphanet:324290", source="Orphanet:324290/attributed", source="Orphanet:324290/ntbt"} +xref: OMIM:616640 {source="MONDO:equivalentTo", source="Orphanet:324290", source="Orphanet:324290/e"} xref: Orphanet:324290 {source="MONDO:equivalentTo"} xref: SCTID:733082001 {source="MONDO:equivalentTo"} xref: UMLS:C4225258 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -293603,7 +293449,7 @@ synonym: "SLC12A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_ xref: DOID:0080460 {source="MONDO:equivalentTo"} xref: OMIM:616645 {source="MONDO:equivalentTo"} xref: UMLS:C4225257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017385 {source="ORDO:293181/btnt"} ! malignant migrating partial seizures of infancy +is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy is_a: MONDO:0100062 {source="DC-OMIM:616645", source="MONDO:Redundant", source="OMIM:616645"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13818 ! SLC12A5 @@ -293622,8 +293468,8 @@ synonym: "epileptic encephalopathy, early infantile, 35" EXACT [OMIM:616647] synonym: "epileptic encephalopathy, early infantile, type 35" EXACT [MONDORULE:2, OMIM:616647] synonym: "ITPA-related encephalopathy" EXACT [DOID:0080458] xref: DOID:0080458 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="Orphanet:457375", source="ORDO:457375/attributed", source="ORDO:457375/ntbt"} -xref: OMIM:616647 {source="MONDO:equivalentTo", source="Orphanet:457375", source="ORDO:457375/e"} +xref: ICD10CM:G40.4 {source="Orphanet:457375/attributed", source="Orphanet:457375/ntbt", source="Orphanet:457375"} +xref: OMIM:616647 {source="Orphanet:457375/e", source="MONDO:equivalentTo", source="Orphanet:457375"} xref: Orphanet:457375 {source="MONDO:equivalentTo"} xref: UMLS:C4225256 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019058 {source="Orphanet:457375"} ! neurometabolic disease @@ -293647,14 +293493,14 @@ synonym: "optic atrophy-deafness-polyneuropathy-myopathy syndrome" EXACT [Orphan synonym: "Treft-Sanborn-Carey syndrome" RELATED [GARD:0005243] xref: DOID:0111340 {source="MONDO:equivalentTo"} xref: GARD:0005243 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="ORDO:1215/attributed", source="ORDO:1215/ntbt", source="Orphanet:1215"} -xref: MESH:C535351 {source="Orphanet:1215", source="MONDO:superClassOf", source="ORDO:1215/e"} -xref: OMIM:125250 {source="ORDO:1215/btnt", source="Orphanet:1215", source="MONDO:superClassOf"} -xref: OMIM:165199 {source="ORDO:1215/btnt", source="Orphanet:1215", source="MONDO:superClassOf"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:1215", source="Orphanet:1215/attributed", source="Orphanet:1215/ntbt"} +xref: MESH:C535351 {source="Orphanet:1215", source="MONDO:superClassOf", source="Orphanet:1215/e"} +xref: OMIM:125250 {source="Orphanet:1215", source="MONDO:superClassOf", source="Orphanet:1215/btnt"} +xref: OMIM:165199 {source="Orphanet:1215", source="MONDO:superClassOf", source="Orphanet:1215/btnt"} xref: OMIM:616648 {source="Orphanet:1215", source="MONDO:superClassOf"} xref: Orphanet:1215 {source="MONDO:equivalentTo"} xref: SCTID:715374003 {source="MONDO:equivalentTo"} -xref: UMLS:C1832466 {source="Orphanet:1215", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1215/e"} +xref: UMLS:C1832466 {source="Orphanet:1215", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1215/e"} xref: UMLS:C1852267 {source="MONDO:equivalentTo"} xref: UMLS:C4275164 {source="MONDO:equivalentTo"} is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:616648", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic atrophy @@ -293682,10 +293528,10 @@ synonym: "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency synonym: "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency" RELATED [OMIM:616651] synonym: "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" EXACT [Orphanet:353298] xref: GARD:0009163 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:353298", source="ORDO:353298/attributed", source="ORDO:353298/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:353298/attributed", source="Orphanet:353298/ntbt", source="Orphanet:353298"} xref: MESH:C535866 {source="MONDO:equivalentTo"} -xref: OMIM:300258 {source="Orphanet:353298", source="MONDO:equivalentObsolete", source="ORDO:353298/nd"} -xref: OMIM:616651 {source="ORDO:353298/e", source="Orphanet:353298", source="MONDO:equivalentTo"} +xref: OMIM:300258 {source="Orphanet:353298/nd", source="Orphanet:353298", source="MONDO:equivalentObsolete"} +xref: OMIM:616651 {source="Orphanet:353298", source="MONDO:equivalentTo", source="Orphanet:353298/e"} xref: Orphanet:353298 {source="MONDO:equivalentTo"} xref: UMLS:C1846059 {source="Orphanet:353298", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production @@ -293741,8 +293587,8 @@ synonym: "spastic quadriplegia-thin corpus callosum-progressive postnatal microc synonym: "spastic tetraplegia, thin corpus callosum, and progressive microcephaly" RELATED [OMIM:616657] synonym: "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT CLINGEN_PREFERRED [] synonym: "SPATCCM" RELATED ABBREVIATION [OMIM:616657] -xref: ICD10CM:Q02 {source="Orphanet:447997", source="ORDO:447997/attributed", source="ORDO:447997/ntbt"} -xref: OMIM:616657 {source="ORDO:447997/e", source="Orphanet:447997", source="MONDO:equivalentTo"} +xref: ICD10CM:Q02 {source="Orphanet:447997/attributed", source="Orphanet:447997/ntbt", source="Orphanet:447997"} +xref: OMIM:616657 {source="Orphanet:447997", source="MONDO:equivalentTo", source="Orphanet:447997/e"} xref: Orphanet:447997 {source="MONDO:equivalentTo"} xref: UMLS:C4225254 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:447997"} ! syndromic intellectual disability @@ -293831,8 +293677,8 @@ synonym: "spastic paraplegia 75, autosomal recessive" EXACT [OMIM:616680] synonym: "SPG75" EXACT ABBREVIATION [DOID:0110820, OMIM:616680, Orphanet:459056] xref: DOID:0110820 {source="MONDO:equivalentTo"} xref: EFO:0009018 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="DOID:0110820", source="MONDO:subClassOf", source="ORDO:459056/attributed", source="ORDO:459056/ntbt", source="Orphanet:459056"} -xref: OMIM:616680 {source="DOID:0110820", source="MONDO:equivalentTo", source="Orphanet:459056", source="ORDO:459056/e"} +xref: ICD10CM:G11.4 {source="DOID:0110820", source="MONDO:subClassOf", source="Orphanet:459056", source="Orphanet:459056/attributed", source="Orphanet:459056/ntbt"} +xref: OMIM:616680 {source="DOID:0110820", source="Orphanet:459056/e", source="MONDO:equivalentTo", source="Orphanet:459056"} xref: Orphanet:459056 {source="DOID:0110820", source="MONDO:equivalentTo"} xref: UMLS:C4225250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:459056"} ! autosomal recessive complex spastic paraplegia @@ -293919,8 +293765,8 @@ synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110187] synonym: "SURF1-related CMT4" EXACT [DOID:0110187, Orphanet:391351] synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [DOID:0110187, Orphanet:391351] xref: DOID:0110187 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:391351/attributed", source="ORDO:391351/ntbt", source="Orphanet:391351", source="DOID:0110187"} -xref: OMIM:616684 {source="ORDO:391351/e", source="MONDO:equivalentTo", source="Orphanet:391351", source="DOID:0110187"} +xref: ICD10CM:G60.0 {source="Orphanet:391351", source="DOID:0110187", source="Orphanet:391351/attributed", source="Orphanet:391351/ntbt"} +xref: OMIM:616684 {source="MONDO:equivalentTo", source="Orphanet:391351", source="DOID:0110187", source="Orphanet:391351/e"} xref: Orphanet:391351 {source="MONDO:equivalentTo", source="DOID:0110187"} xref: SCTID:765047006 {source="MONDO:equivalentTo"} xref: UMLS:C4225246 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -293973,8 +293819,8 @@ synonym: "CMT2 due to VCP mutation" EXACT [DOID:0110168, Orphanet:435387] synonym: "CMT2Y" EXACT ABBREVIATION [DOID:0110168, OMIM:616687] synonym: "VCP Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110168 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="DOID:0110168", source="ORDO:435387/attributed", source="ORDO:435387/ntbt", source="Orphanet:435387"} -xref: OMIM:616687 {source="MONDO:equivalentTo", source="ORDO:435387/e", source="DOID:0110168", source="Orphanet:435387"} +xref: ICD10CM:G60.0 {source="Orphanet:435387/attributed", source="Orphanet:435387/ntbt", source="DOID:0110168", source="Orphanet:435387"} +xref: OMIM:616687 {source="Orphanet:435387/e", source="MONDO:equivalentTo", source="DOID:0110168", source="Orphanet:435387"} xref: Orphanet:435387 {source="MONDO:equivalentTo", source="DOID:0110168"} xref: UMLS:C4225244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110168/inferred", source="MONDO:Redundant", source="OMIM:616687", source="Orphanet:435387/inferred"} ! Charcot-Marie-Tooth disease @@ -294068,7 +293914,6 @@ synonym: "autosomal recessive nonsyndromic deafness 97" NARROW [OMIM:616705] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MET" NARROW [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 97" NARROW [DOID:0110539, MONDORULE:2] synonym: "deafness, autosomal recessive 97" NARROW [OMIM:616705, OMIM:genemap2] -synonym: "deafness, autosomal recessive 97" NARROW [OMIM:616705] synonym: "deafness, autosomal recessive type 97" NARROW [MONDORULE:2, OMIM:616705] synonym: "DFNB97" NARROW ABBREVIATION [DOID:0110539, OMIM:616705] synonym: "MET autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -294092,7 +293937,6 @@ synonym: "autosomal dominant nonsyndromic deafness 68" NARROW [OMIM:616707] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 68" NARROW [DOID:0110589, MONDORULE:2] synonym: "deafness, autosomal dominant 68" NARROW [OMIM:616707, OMIM:genemap2] -synonym: "deafness, autosomal dominant 68" NARROW [OMIM:616707] synonym: "deafness, autosomal dominant type 68" NARROW [MONDORULE:2, OMIM:616707] synonym: "DFNA68" NARROW ABBREVIATION [DOID:0110589, OMIM:616707] synonym: "HOMER2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -294207,8 +294051,8 @@ xref: DOID:0110673 {source="MONDO:equivalentTo"} xref: OMIM:616720 {source="MONDO:equivalentTo", source="DOID:0110673"} xref: UMLS:C4225235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110673", source="MONDO:Redundant", source="OMIM:616720", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome -is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome +is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome +is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2190 ! COL13A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2190 {source="mim2gene_medgen"} ! COL13A1 @@ -294270,7 +294114,7 @@ synonym: "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type" RELATED [OMIM:6 synonym: "spondyloepimetaphyseal dysplasia, faden-Alkuraya type" EXACT [OMIM:616723] synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis" RELATED [OMIM:616723] synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" RELATED DEPRECATED [OMIM:616723] -xref: OMIM:616723 {source="MONDO:equivalentTo", source="Orphanet:457395", source="ORDO:457395/e"} +xref: OMIM:616723 {source="Orphanet:457395/e", source="MONDO:equivalentTo", source="Orphanet:457395"} xref: Orphanet:457395 {source="MONDO:equivalentTo"} xref: UMLS:C4225232 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457395", source="indirect"} ! syndromic intellectual disability @@ -294368,9 +294212,9 @@ comment: ORDO treats as isolated but includes syndromic forms as OMIM xrefs subset: ordo_disease {source="Orphanet:98676"} synonym: "autosomal recessive isolated optic atrophy" NARROW [Orphanet:98676] synonym: "autosomal recessive nonsyndromic optic atrophy" NARROW [Orphanet:98676] -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:98676", source="ORDO:98676/attributed", source="ORDO:98676/ntbt"} -xref: OMIM:258500 {source="Orphanet:98676", source="MONDO:superClassOf", source="ORDO:98676/btnt"} -xref: OMIM:612989 {source="MONDO:directSiblingOf", source="ORDO:98676/btnt"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:98676/attributed", source="Orphanet:98676/ntbt", source="Orphanet:98676"} +xref: OMIM:258500 {source="Orphanet:98676/btnt", source="Orphanet:98676", source="MONDO:superClassOf"} +xref: OMIM:612989 {source="Orphanet:98676/btnt", source="MONDO:directSiblingOf"} xref: OMIM:616289 {source="Orphanet:98676", source="MONDO:superClassOf"} xref: OMIM:616732 {source="Orphanet:98676", source="MONDO:superClassOf"} xref: OMIM:617302 {source="Orphanet:98676", source="MONDO:superClassOf"} @@ -294412,7 +294256,7 @@ synonym: "skin creases, congenital symmetric circumferential, type 2" EXACT [MON synonym: "symmetric circumferential skin creases, congenital, 2" EXACT [OMIM:616734, OMIM:genemap2] xref: OMIM:616734 {source="MONDO:equivalentTo"} xref: UMLS:C4225225 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007990 {source="MONDO:Redundant", source="ORDO:2505/btnt"} ! multiple benign circumferential skin creases on limbs +is_a: MONDO:0007990 {source="MONDO:Redundant", source="Orphanet:2505/btnt"} ! multiple benign circumferential skin creases on limbs intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6891 ! MAPRE2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6891 {source="mim2gene_medgen"} ! MAPRE2 @@ -294474,7 +294318,7 @@ synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" EX synonym: "RUSAT2" EXACT ABBREVIATION [OMIM:616738] xref: OMIM:616738 {source="MONDO:equivalentTo"} xref: UMLS:C4225221 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:616738", source="ORDO:71289/btnt"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome +is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:616738", source="Orphanet:71289/btnt"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is_a: MONDO:0100458 {source="https://orcid.org/0000-0002-7437-8060"} ! MECOM-associated syndrome intersection_of: MONDO:0011555 ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3498 ! MECOM @@ -294579,7 +294423,7 @@ synonym: "spastic paraplegia and psychomotor retardation with or without seizure synonym: "spastic paraplegia-psychomotor retardation-seizures syndrome" EXACT [Orphanet:464282] synonym: "SPPRS" RELATED ABBREVIATION [OMIM:616756] synonym: "SPPRS syndrome" EXACT [Orphanet:464282] -xref: OMIM:616756 {source="MONDO:equivalentTo", source="ORDO:464282/e", source="Orphanet:464282"} +xref: OMIM:616756 {source="Orphanet:464282/e", source="MONDO:equivalentTo", source="Orphanet:464282"} xref: Orphanet:464282 {source="MONDO:equivalentTo"} xref: UMLS:C4225215 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464282", source="indirect"} ! syndromic intellectual disability @@ -294603,7 +294447,7 @@ synonym: "woolly hair, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:6167 xref: DOID:0111574 {source="MONDO:equivalentTo"} xref: OMIM:616760 {source="MONDO:equivalentTo"} xref: UMLS:C4225214 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008686 {source="MONDO:Redundant", source="ORDO:170/btnt"} ! isolated familial woolly hair disorder +is_a: MONDO:0008686 {source="MONDO:Redundant", source="Orphanet:170/btnt"} ! isolated familial woolly hair disorder intersection_of: MONDO:0008686 ! isolated familial woolly hair disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30839 ! KRT25 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30839 {source="mim2gene_medgen"} ! KRT25 @@ -294718,7 +294562,7 @@ synonym: "orofacial cleft type 15" EXACT [MONDORULE:2, OMIM:616788] xref: DOID:0080408 {source="MONDO:equivalentTo"} xref: OMIM:616788 {source="MONDO:equivalentTo"} xref: UMLS:C4225209 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016044 {source="MONDO:Redundant", source="ORDO:199306/btnt"} ! cleft lip/palate +is_a: MONDO:0016044 {source="MONDO:Redundant", source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0016044 ! cleft lip/palate intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2917 ! DLX4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2917 {source="mim2gene_medgen"} ! DLX4 @@ -294741,8 +294585,8 @@ synonym: "mental retardation and distinctive Facial features with or without Car synonym: "MRFACD" EXACT ABBREVIATION [OMIM:616789] xref: GARD:0012999 {source="MONDO:equivalentTo"} xref: HGNC:22962 {source="GARD:0012999"} -xref: ICD10CM:Q87.8 {source="ORDO:369891/attributed", source="ORDO:369891/ntbt", source="Orphanet:369891"} -xref: OMIM:616789 {source="MONDO:equivalentTo", source="ORDO:369891/e", source="Orphanet:369891"} +xref: ICD10CM:Q87.8 {source="Orphanet:369891/attributed", source="Orphanet:369891/ntbt", source="Orphanet:369891"} +xref: OMIM:616789 {source="Orphanet:369891/e", source="MONDO:equivalentTo", source="Orphanet:369891"} xref: Orphanet:369891 {source="MONDO:equivalentTo"} xref: UMLS:C4225208 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369891", source="indirect"} ! syndromic intellectual disability @@ -294801,9 +294645,9 @@ synonym: "spinocerebellar ataxia 42" EXACT [OMIM:616795] synonym: "spinocerebellar ataxia type 42" EXACT [MONDORULE:2, OMIM:616795] xref: DOID:0111742 {source="MONDO:equivalentTo"} xref: EFO:0009059 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:458803/attributed", source="ORDO:458803/ntbt", source="Orphanet:458803"} +xref: ICD10CM:G11.8 {source="Orphanet:458803", source="Orphanet:458803/attributed", source="Orphanet:458803/ntbt"} xref: NCIT:C171269 {source="MONDO:equivalentTo"} -xref: OMIM:616795 {source="ORDO:458803/e", source="MONDO:equivalentTo", source="Orphanet:458803"} +xref: OMIM:616795 {source="MONDO:equivalentTo", source="Orphanet:458803", source="Orphanet:458803/e"} xref: Orphanet:458803 {source="MONDO:equivalentTo"} xref: UMLS:C4225205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019793 {source="EFO:0009059", source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III @@ -294874,7 +294718,7 @@ synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation synonym: "PIGY hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616809 {source="MONDO:equivalentTo"} xref: UMLS:C4225201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616809", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616809", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28213 ! PIGY relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28213 {source="mim2gene_medgen"} ! PIGY @@ -294974,7 +294818,7 @@ xref: Orphanet:391408 {source="OMIM:616817"} xref: UMLS:C4225195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14951 {source="mim2gene_medgen"} ! PPP1R15B -relationship: excluded_subClassOf MONDO:0018320 {source="ORDO:391408/btnt"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome +relationship: excluded_subClassOf MONDO:0018320 {source="Orphanet:391408/btnt"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome property_value: confidence "29.33333333333344" xsd:double [Term] @@ -295231,7 +295075,7 @@ xref: ICD10CM:Q12.0 {source="DOID:0110262"} xref: OMIM:616851 {source="MONDO:equivalentTo", source="DOID:0110262"} xref: UMLS:C4225182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005129 {source="DOID", source="DOID:0110262", source="MONDO:Redundant", source="OMIM:616851", source="indirect"} ! cataract -is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract +is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23801 ! SIPA1L3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23801 {source="mim2gene_medgen"} ! SIPA1L3 @@ -295243,8 +295087,8 @@ name: progressive scapulohumeroperoneal distal myopathy subset: ordo_disease {source="Orphanet:447977"} synonym: "myopathy, scapulohumeroperoneal" EXACT [OMIM:616852] synonym: "SHPM" RELATED ABBREVIATION [OMIM:616852] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:447977", source="ORDO:447977/attributed", source="ORDO:447977/ntbt"} -xref: OMIM:616852 {source="ORDO:447977/e", source="Orphanet:447977", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:447977/attributed", source="Orphanet:447977/ntbt", source="Orphanet:447977"} +xref: OMIM:616852 {source="Orphanet:447977", source="MONDO:equivalentTo", source="Orphanet:447977/e"} xref: Orphanet:447977 {source="MONDO:equivalentTo"} xref: UMLS:C4225181 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016106 {source="Orphanet:447977"} ! progressive muscular dystrophy @@ -295295,8 +295139,8 @@ synonym: "childhood-onset spasticity with hyperglycinemia" RELATED [Orphanet:401 synonym: "childhood-onset spasticity with variant non-ketotic hyperglycinemia" EXACT [Orphanet:401866] synonym: "SPAHGC" EXACT ABBREVIATION [OMIM:616859] synonym: "spasticity, childhood-onset, with hyperglycinemia" EXACT [OMIM:616859] -xref: ICD10CM:E88.8 {source="Orphanet:401866", source="ORDO:401866/attributed", source="ORDO:401866/ntbt"} -xref: OMIM:616859 {source="Orphanet:401866", source="ORDO:401866/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E88.8 {source="Orphanet:401866/attributed", source="Orphanet:401866/ntbt", source="Orphanet:401866"} +xref: OMIM:616859 {source="Orphanet:401866", source="MONDO:equivalentTo", source="Orphanet:401866/e"} xref: Orphanet:401866 {source="MONDO:equivalentTo"} xref: UMLS:C4225178 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017845 {source="Orphanet:401866"} ! spastic ataxia @@ -295313,8 +295157,8 @@ synonym: "anemia, sideroblastic, 3, pyridoxine-refractory" EXACT [OMIM:616860] synonym: "GLRX5-related sideroblastic anemia" EXACT [Orphanet:255132] synonym: "SIDBA3" EXACT ABBREVIATION [OMIM:616860] xref: DOID:0080343 {source="MONDO:equivalentTo"} -xref: ICD10CM:D64.0 {source="Orphanet:255132", source="ORDO:255132/attributed", source="ORDO:255132/ntbt"} -xref: OMIM:616860 {source="Orphanet:255132", source="DOID:0080343", source="MONDO:equivalentTo", source="ORDO:255132/e"} +xref: ICD10CM:D64.0 {source="Orphanet:255132", source="Orphanet:255132/attributed", source="Orphanet:255132/ntbt"} +xref: OMIM:616860 {source="Orphanet:255132", source="DOID:0080343", source="MONDO:equivalentTo", source="Orphanet:255132/e"} xref: Orphanet:255132 {source="MONDO:equivalentTo"} xref: SCTID:720465002 {source="MONDO:equivalentTo"} xref: UMLS:C2673914 {source="Orphanet:255132", source="MONDO:notFoundInDiseaseSubset"} @@ -295412,7 +295256,7 @@ xref: Orphanet:103908 {source="MONDO:subClassOf", source="DOID:0060777"} xref: UMLS:CN515063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000249 {source="DOID:0060777", source="indirect"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:616868", source="MONDO:Redundant", source="OMIM:616868", source="indirect"} ! congenital diarrhea -is_a: MONDO:0015170 {source="ORDO:103908/btnt"} ! congenital sodium diarrhea +is_a: MONDO:0015170 {source="Orphanet:103908/btnt"} ! congenital sodium diarrhea is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11073 ! SLC9A3 @@ -295452,8 +295296,8 @@ synonym: "IKZF1 syndrome with combined immunodeficiency" EXACT [MONDO:design_pat synonym: "immunodeficiency, common variable, 13" EXACT [OMIM:616873] synonym: "immunodeficiency, common variable, type 13" EXACT [MONDORULE:2, OMIM:616873] synonym: "syndrome with combined immunodeficiency caused by mutation in IKZF1" EXACT [MONDO:design_pattern] -xref: ICD10CM:D81.8 {source="ORDO:317473/attributed", source="ORDO:317473/ntbt", source="Orphanet:317473"} -xref: OMIM:616873 {source="MONDO:equivalentTo", source="Orphanet:317473", source="ORDO:317473/e"} +xref: ICD10CM:D81.8 {source="Orphanet:317473", source="Orphanet:317473/attributed", source="Orphanet:317473/ntbt"} +xref: OMIM:616873 {source="MONDO:equivalentTo", source="Orphanet:317473", source="Orphanet:317473/e"} xref: Orphanet:317473 {source="MONDO:equivalentTo"} xref: UMLS:C4225173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015517 {source="DC-OMIM:616873", source="OMIM:616873"} ! common variable immunodeficiency @@ -295616,7 +295460,7 @@ xref: OMIM:616894 {source="MONDO:equivalentTo", source="DOID:0060767"} xref: Orphanet:3107 {source="MONDO:subClassOf", source="DOID:0060767"} xref: Orphanet:97360 {source="MONDO:subClassOf", source="DOID:0060767"} xref: UMLS:C4225164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008389 {source="ORDO:3107/btnt"} ! autosomal dominant Robinow syndrome +is_a: MONDO:0008389 {source="Orphanet:3107/btnt"} ! autosomal dominant Robinow syndrome is_a: MONDO:0019978 {source="DOID:0060767", source="MONDO:Redundant", source="OMIM:616894", source="indirect"} ! Robinow syndrome intersection_of: MONDO:0019978 ! Robinow syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3087 ! DVL3 @@ -295651,8 +295495,8 @@ synonym: "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type" synonym: "OCLSBG" RELATED ABBREVIATION [OMIM:616897] synonym: "osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897] synonym: "osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897] -xref: ICD10CM:Q78.8 {source="Orphanet:457378", source="ORDO:457378/attributed", source="ORDO:457378/ntbt"} -xref: OMIM:616897 {source="Orphanet:457378", source="MONDO:equivalentTo", source="ORDO:457378/e"} +xref: ICD10CM:Q78.8 {source="Orphanet:457378", source="Orphanet:457378/attributed", source="Orphanet:457378/ntbt"} +xref: OMIM:616897 {source="Orphanet:457378", source="MONDO:equivalentTo", source="Orphanet:457378/e"} xref: Orphanet:457378 {source="MONDO:equivalentTo"} xref: UMLS:C4225162 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:616897"} ! Mendelian disease @@ -295670,8 +295514,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:261190"} synonym: "chromosome 15q14 deletion syndrome" RELATED [OMIM:616898] synonym: "Del(15)(q14)" EXACT [Orphanet:261190] synonym: "monosomy 15q14" EXACT [Orphanet:261190] -xref: ICD10CM:Q93.5 {source="Orphanet:261190", source="ORDO:261190/attributed", source="ORDO:261190/ntbt"} -xref: OMIM:616898 {source="MONDO:equivalentTo", source="Orphanet:261190", source="ORDO:261190/e"} +xref: ICD10CM:Q93.5 {source="Orphanet:261190/attributed", source="Orphanet:261190/ntbt", source="Orphanet:261190"} +xref: OMIM:616898 {source="Orphanet:261190/e", source="MONDO:equivalentTo", source="Orphanet:261190"} xref: Orphanet:261190 {source="MONDO:equivalentTo"} xref: SCTID:719575008 {source="MONDO:equivalentTo"} xref: UMLS:C4225666 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -295710,7 +295554,7 @@ synonym: "developmental delay with short stature, dysmorphic facial features, an synonym: "developmental delay with short stature, dysmorphic features, and sparse hair" EXACT [OMIM:616901] synonym: "developmental delay-short stature-dysmorphic features-sparse hair syndrome" EXACT [Orphanet:459061] synonym: "Loucks-Innes syndrome" RELATED [OMIM:616901] -xref: OMIM:616901 {source="Orphanet:459061", source="ORDO:459061/e", source="MONDO:equivalentTo"} +xref: OMIM:616901 {source="Orphanet:459061", source="MONDO:equivalentTo", source="Orphanet:459061/e"} xref: Orphanet:459061 {source="MONDO:equivalentTo"} xref: UMLS:C4310801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459061", source="indirect"} ! syndromic intellectual disability @@ -295847,8 +295691,8 @@ synonym: "Marfan lipodystrophy syndrome" EXACT [OMIM:616914] synonym: "Marfan-progeroid-lipodystrophy syndrome" RELATED [OMIM:616914] synonym: "Marfanoid-progeroid syndrome" RELATED [OMIM:616914] synonym: "MFLS" RELATED ABBREVIATION [OMIM:616914] -xref: ICD10CM:E88.1 {source="ORDO:300382/attributed", source="ORDO:300382/ntbt", source="Orphanet:300382"} -xref: OMIM:616914 {source="MONDO:equivalentTo", source="ORDO:300382/e", source="Orphanet:300382"} +xref: ICD10CM:E88.1 {source="Orphanet:300382/attributed", source="Orphanet:300382/ntbt", source="Orphanet:300382"} +xref: OMIM:616914 {source="Orphanet:300382/e", source="MONDO:equivalentTo", source="Orphanet:300382"} xref: Orphanet:300382 {source="MONDO:equivalentTo"} xref: UMLS:C4310796 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="Orphanet:300382/inferred"} ! Mendelian disease @@ -295980,7 +295824,7 @@ synonym: "CSS5" RELATED ABBREVIATION [OMIM:616938] synonym: "SMARCE1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616938 {source="MONDO:equivalentTo"} xref: UMLS:C4310788 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015452 {source="DC-OMIM:616938", source="MONDO:Redundant", source="OMIM:616938", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:616938", source="MONDO:Redundant", source="OMIM:616938", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11109 ! SMARCE1 @@ -296011,7 +295855,7 @@ synonym: "autosomal agammaglobulinemia caused by mutation in TCF3" EXACT [MONDO: synonym: "TCF3 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616941 {source="MONDO:equivalentTo"} xref: UMLS:C4310786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0011096 {source="MONDO:Redundant", source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia +is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:616941", source="indirect"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11633 ! TCF3 @@ -296122,8 +295966,8 @@ synonym: "spinocerebellar ataxia autosomal recessive type 23" EXACT [Orphanet:40 synonym: "spinocerebellar ataxia, autosomal recessive 23" EXACT [OMIM:616949] synonym: "spinocerebellar ataxia, autosomal recessive type 23" EXACT [MONDORULE:2, OMIM:616949] xref: DOID:0111613 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:404493/attributed", source="ORDO:404493/ntbt", source="Orphanet:404493"} -xref: OMIM:616949 {source="MONDO:equivalentTo", source="ORDO:404493/e", source="Orphanet:404493"} +xref: ICD10CM:G11.1 {source="Orphanet:404493", source="Orphanet:404493/attributed", source="Orphanet:404493/ntbt"} +xref: OMIM:616949 {source="MONDO:equivalentTo", source="Orphanet:404493", source="Orphanet:404493/e"} xref: Orphanet:404493 {source="MONDO:equivalentTo"} xref: UMLS:C4310780 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018446 {source="Orphanet:404493"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome @@ -296144,7 +295988,7 @@ xref: DOID:0070172 {source="MONDO:equivalentTo"} xref: OMIM:616950 {source="MONDO:equivalentTo"} xref: UMLS:C4310779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:616950", source="MONDO:Redundant", source="OMIM:616950"} ! azoospermia -is_a: MONDO:0018393 {source="ORDO:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation +is_a: MONDO:0018393 {source="Orphanet:399805/btnt"} ! male infertility with azoospermia or oligozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 ! SYCE1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 {source="mim2gene_medgen"} ! SYCE1 @@ -296217,7 +296061,7 @@ xref: UMLS:C4310473 {source="MONDO:equivalentTo"} xref: UMLS:CN262351 {source="MONDO:equivalentTo"} xref: UMLS:CN774236 {source="MONDO:equivalentTo"} xref: UMLS:CN847585 {source="MONDO:equivalentTo"} -is_a: MONDO:0000212 {source="MONDO:Redundant", source="OMIM:616963", source="ORDO:300547/btnt", source="indirect"} ! hypercalcemia, infantile +is_a: MONDO:0000212 {source="MONDO:Redundant", source="OMIM:616963", source="Orphanet:300547/btnt", source="indirect"} ! hypercalcemia, infantile intersection_of: MONDO:0000212 ! hypercalcemia, infantile intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11019 ! SLC34A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11019 {source="mim2gene_medgen"} ! SLC34A1 @@ -296239,7 +296083,6 @@ synonym: "autosomal dominant deafness 70" NARROW [DOID:0110592] synonym: "autosomal dominant nonsyndromic deafness 70" NARROW CLINGEN_PREFERRED [OMIM:616968] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MCM2" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 70" NARROW [DOID:0110592, MONDORULE:2] -synonym: "deafness, autosomal dominant 70" NARROW [OMIM:616968] synonym: "deafness, autosomal dominant 70" NARROW [OMIM:616968, OMIM:genemap2] synonym: "deafness, autosomal dominant type 70" NARROW [MONDORULE:2, OMIM:616968] synonym: "DFNA70" NARROW ABBREVIATION [DOID:0110592, OMIM:616968] @@ -296265,7 +296108,6 @@ synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CD164" synonym: "autosomal dominant nonsyndromic deafness type 66" NARROW [DOID:0110587, MONDORULE:2] synonym: "CD164 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deafness, autosomal dominant 66" NARROW [OMIM:616969, OMIM:genemap2] -synonym: "deafness, autosomal dominant 66" NARROW [OMIM:616969] synonym: "deafness, autosomal dominant type 66" NARROW [MONDORULE:2, OMIM:616969] synonym: "DFNA66" NARROW ABBREVIATION [DOID:0110587, OMIM:616969] xref: DOID:0110587 {source="MONDO:equivalentTo"} @@ -296407,7 +296249,7 @@ xref: OMIM:617004 {source="MONDO:equivalentTo"} xref: UMLS:C4310769 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000447 {source="MONDO:0014860/inferred", source="MONDO:Redundant", source="OMIM:617004", source="indirect"} ! autosomal dominant polycystic liver disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21082 {source="PMID:29038287", source="https://github.com/monarch-initiative/mondo/issues/1882", source="mim2gene_medgen"} ! SEC63 -relationship: excluded_subClassOf MONDO:0008265 {source="ORDO:2924/btnt"} ! polycystic liver disease 1 +relationship: excluded_subClassOf MONDO:0008265 {source="Orphanet:2924/btnt"} ! polycystic liver disease 1 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:617004"} ! Autosomal dominant inheritance property_value: confidence "4.200000000000001" xsd:double @@ -296489,8 +296331,8 @@ subset: ordo_disease {source="Orphanet:420702"} synonym: "neutropenia, Severe congenital, 7, autosomal recessive" EXACT [OMIM:617014] synonym: "neutropenia, severe congenital, 7, autosomal recessive" RELATED [OMIM:617014] synonym: "SCN7" RELATED ABBREVIATION [OMIM:617014] -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="ORDO:420702/attributed", source="ORDO:420702/ntbt", source="Orphanet:420702"} -xref: OMIM:617014 {source="MONDO:equivalentTo", source="Orphanet:420702", source="ORDO:420702/e"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:420702", source="Orphanet:420702/attributed", source="Orphanet:420702/ntbt"} +xref: OMIM:617014 {source="MONDO:equivalentTo", source="Orphanet:420702", source="Orphanet:420702/e"} xref: Orphanet:420702 {source="MONDO:equivalentTo"} xref: UMLS:C4310764 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018542 {source="DC-OMIM:617014", source="OMIM:617014", source="Orphanet:420702", source="Orphanet:420702/inferred"} ! severe congenital neutropenia @@ -296517,9 +296359,9 @@ synonym: "CMT2T" EXACT ABBREVIATION [DOID:0110160, OMIM:617017, Orphanet:443950] synonym: "DNAJB2-related Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:443950] synonym: "DNAJB2-related CMT2" EXACT [Orphanet:443950] xref: DOID:0110160 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:443950", source="DOID:0110160", source="ORDO:443950/attributed", source="ORDO:443950/ntbt"} -xref: OMIM:616233 {source="Orphanet:443950", source="MONDO:equivalentObsolete", source="ORDO:443950/nd"} -xref: OMIM:617017 {source="Orphanet:443950", source="MONDO:equivalentTo", source="DOID:0110160", source="ORDO:443950/btnt"} +xref: ICD10CM:G60.0 {source="Orphanet:443950", source="Orphanet:443950/attributed", source="Orphanet:443950/ntbt", source="DOID:0110160"} +xref: OMIM:616233 {source="Orphanet:443950/nd", source="Orphanet:443950", source="MONDO:equivalentObsolete"} +xref: OMIM:617017 {source="Orphanet:443950", source="Orphanet:443950/btnt", source="MONDO:equivalentTo", source="DOID:0110160"} xref: Orphanet:443950 {source="MONDO:equivalentTo", source="DOID:0110160"} xref: UMLS:C4015635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0110160/inferred", source="MONDO:Redundant", source="OMIM:617017", source="Orphanet:443950/inferred"} ! Charcot-Marie-Tooth disease @@ -296593,8 +296435,8 @@ synonym: "LCCS10" EXACT ABBREVIATION [OMIM:617022] synonym: "lethal congenital contracture syndrome 10" EXACT [OMIM:617022] synonym: "lethal congenital contracture syndrome type 10" EXACT [MONDORULE:2, OMIM:617022] synonym: "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome" EXACT [Orphanet:464366] -xref: ICD10CM:Q77.2 {source="Orphanet:464366", source="ORDO:464366/attributed", source="ORDO:464366/ntbt"} -xref: OMIM:617022 {source="Orphanet:464366", source="ORDO:464366/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q77.2 {source="Orphanet:464366", source="Orphanet:464366/attributed", source="Orphanet:464366/ntbt"} +xref: OMIM:617022 {source="Orphanet:464366", source="MONDO:equivalentTo", source="Orphanet:464366/e"} xref: Orphanet:464366 {source="MONDO:equivalentTo"} xref: UMLS:C4310760 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015929 {source="Orphanet:464366"} ! thoracic malformation @@ -296652,12 +296494,12 @@ synonym: "Nevus comedonicus" EXACT [OMIM:617025] synonym: "nevus comedonicus, somatic" EXACT [OMIM:617025, OMIM:genemap2] synonym: "pilosebaceous nevoid disorder" EXACT [NCIT:C3946] xref: GARD:0013073 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.5 {source="Orphanet:64754", source="ORDO:64754/ntbt", source="ORDO:64754/index"} +xref: ICD10CM:Q82.5 {source="Orphanet:64754/ntbt", source="Orphanet:64754", source="Orphanet:64754/index"} xref: NCIT:C3946 {source="MONDO:equivalentTo"} -xref: OMIM:617025 {source="ORDO:64754/e", source="Orphanet:64754", source="MONDO:equivalentTo"} +xref: OMIM:617025 {source="Orphanet:64754", source="MONDO:equivalentTo", source="Orphanet:64754/e"} xref: Orphanet:64754 {source="MONDO:equivalentTo"} xref: SCTID:35962006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265987 {source="ORDO:64754/e", source="NCIT:C3946", source="NCBI:mim2gene_medline", source="Orphanet:64754", source="MONDO:equivalentTo"} +xref: UMLS:C0265987 {source="NCIT:C3946", source="NCBI:mim2gene_medline", source="Orphanet:64754", source="MONDO:equivalentTo", source="Orphanet:64754/e"} is_a: MONDO:0005073 {source="Orphanet:64754"} ! melanocytic nevus is_a: MONDO:0015950 {source="Orphanet:64754", source="indirect"} ! inherited skin tumor relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18591 {source="mim2gene_medgen"} ! NEK9 @@ -296676,7 +296518,7 @@ synonym: "pontocerebellar hypoplasia, type 2F; PCH2F" EXACT [] synonym: "TSEN15 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:617026 {source="MONDO:equivalentTo"} xref: UMLS:C4310757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016759 {source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:617026", source="indirect"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16791 ! TSEN15 @@ -296770,7 +296612,7 @@ xref: OMIM:126800 {source="GARD:0010691", source="MONDO:directSiblingOf"} xref: OMIM:617041 {source="MONDO:equivalentTo"} xref: Orphanet:233 {source="MONDO:subClassOf", source="GARD:0010691"} xref: UMLS:C4310752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:617041", source="ORDO:233/btnt"} ! Duane retraction syndrome +is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:617041", source="Orphanet:233/btnt"} ! Duane retraction syndrome intersection_of: MONDO:0007473 ! Duane retraction syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6408 ! MAFB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6408 {source="mim2gene_medgen"} ! MAFB @@ -296808,7 +296650,7 @@ synonym: "hereditary spastic paraplegia type 77" EXACT [DOID:0110822, MONDORULE: synonym: "spastic paraplegia 77, autosomal recessive" EXACT [OMIM:617046] synonym: "SPG77" EXACT ABBREVIATION [DOID:0110822, OMIM:617046, Orphanet:466722] xref: DOID:0110822 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="DOID:0110822", source="Orphanet:466722", source="ORDO:466722/attributed", source="ORDO:466722/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:466722/attributed", source="Orphanet:466722/ntbt", source="DOID:0110822", source="Orphanet:466722"} xref: OMIM:617046 {source="DOID:0110822", source="Orphanet:466722", source="MONDO:equivalentTo"} xref: Orphanet:466722 {source="DOID:0110822", source="MONDO:equivalentTo"} xref: UMLS:C4310750 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -297077,7 +296919,7 @@ synonym: "GUF1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: DOID:0080427 {source="MONDO:equivalentTo"} xref: OMIM:617065 {source="MONDO:equivalentTo"} xref: UMLS:C4310737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018097 {source="ORDO:3451/btnt"} ! West syndrome +is_a: MONDO:0018097 {source="Orphanet:3451/btnt"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:617065", source="MONDO:Redundant", source="OMIM:617065"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25799 ! GUF1 @@ -297124,7 +296966,7 @@ xref: DOID:0111523 {source="MONDO:equivalentTo"} xref: OMIM:617069 {source="MONDO:equivalentTo"} xref: UMLS:C4310734 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="DC-OMIM:617069", source="OMIM:617069"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions -is_a: MONDO:0016810 {source="MONDO:Redundant", source="ORDO:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia +is_a: MONDO:0016810 {source="MONDO:Redundant", source="Orphanet:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia intersection_of: MONDO:0016810 ! autosomal recessive progressive external ophthalmoplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11831 ! TK2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11831 {source="mim2gene_medgen"} ! TK2 @@ -297141,8 +296983,8 @@ synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:617070] synonym: "progressive external ophthalmoplegia, autosomal recessive 4" RELATED [OMIM:617070] xref: DOID:0111516 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:329314/attributed", source="ORDO:329314/ntbt", source="Orphanet:329314"} -xref: OMIM:617070 {source="MONDO:equivalentTo", source="ORDO:329314/e", source="Orphanet:329314"} +xref: ICD10CM:G71.3 {source="Orphanet:329314/attributed", source="Orphanet:329314/ntbt", source="Orphanet:329314"} +xref: OMIM:617070 {source="Orphanet:329314/e", source="MONDO:equivalentTo", source="Orphanet:329314"} xref: Orphanet:329314 {source="MONDO:equivalentTo"} xref: SCTID:733599009 {source="MONDO:equivalentTo"} xref: UMLS:C4310733 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -297168,8 +297010,8 @@ synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [DOID:0110289] synonym: "muscular dystrophy, limb-girdle, type 2y" EXACT [OMIM:617072] synonym: "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110289 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:424261/attributed", source="ORDO:424261/ntbt", source="Orphanet:424261", source="DOID:0110289"} -xref: OMIM:617072 {source="MONDO:equivalentTo", source="Orphanet:424261", source="ORDO:424261/e", source="DOID:0110289"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:424261", source="Orphanet:424261/attributed", source="Orphanet:424261/ntbt", source="DOID:0110289"} +xref: OMIM:617072 {source="MONDO:equivalentTo", source="Orphanet:424261", source="Orphanet:424261/e", source="DOID:0110289"} xref: Orphanet:424261 {source="MONDO:equivalentTo", source="DOID:0110289"} xref: SCTID:725907002 {source="MONDO:equivalentTo"} xref: UMLS:C4310731 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -297298,7 +297140,7 @@ synonym: "short-rib thoracic dysplasia 15 with polydactyly; SRTD15" EXACT [] synonym: "SRTD15" EXACT ABBREVIATION [OMIM:617088] xref: OMIM:617088 {source="MONDO:equivalentTo"} xref: UMLS:C4310724 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018770 {source="OMIM:617088", source="ORDO:474/btnt"} ! Jeune syndrome +is_a: MONDO:0018770 {source="OMIM:617088", source="Orphanet:474/btnt"} ! Jeune syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24595 {source="mim2gene_medgen"} ! DYNC2LI1 property_value: confidence "0.7173913043478257" xsd:double @@ -297435,7 +297277,7 @@ synonym: "short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16" E synonym: "SRTD16" EXACT ABBREVIATION [OMIM:617102] xref: OMIM:617102 {source="MONDO:equivalentTo"} xref: UMLS:C4310718 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009032 {source="ORDO:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia is_a: MONDO:0018770 {source="OMIM:617102"} ! Jeune syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15901 {source="mim2gene_medgen"} ! IFT52 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:617102"} ! Autosomal recessive inheritance @@ -297457,8 +297299,8 @@ synonym: "SLC1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: DOID:0080442 {source="MONDO:equivalentTo"} xref: OMIM:617105 {source="MONDO:equivalentTo"} xref: UMLS:C4310717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016022 {source="ORDO:1935/btnt"} ! early myoclonic encephalopathy -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617105", source="MONDO:Redundant", source="OMIM:617105"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10940 ! SLC1A2 @@ -297481,7 +297323,7 @@ synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2 xref: DOID:0080454 {source="MONDO:equivalentTo"} xref: OMIM:617106 {source="MONDO:equivalentTo"} xref: UMLS:C4310716 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617106", source="MONDO:Redundant", source="OMIM:617106"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 ! CACNA1A @@ -297514,7 +297356,7 @@ synonym: "sessile serrated polyposis cancer syndrome; SSPCS" EXACT [] synonym: "SSPCS" EXACT ABBREVIATION [OMIM:617108] xref: OMIM:617108 {source="MONDO:equivalentTo"} xref: UMLS:C4310714 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015524 {source="ORDO:157798/btnt"} ! hyperplastic polyposis syndrome +is_a: MONDO:0015524 {source="Orphanet:157798/btnt"} ! hyperplastic polyposis syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18505 {source="mim2gene_medgen"} ! RNF43 property_value: confidence "29.33333333333344" xsd:double @@ -297532,7 +297374,7 @@ synonym: "MDPT3" EXACT ABBREVIATION [DOID:0060865, OMIM:617111] synonym: "patterned macular dystrophy caused by mutation in MAPKAPK3" EXACT [MONDO:design_pattern] synonym: "patterned macular dystrophy type 3" EXACT [DOID:0060865, MONDORULE:1] xref: DOID:0060865 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="ORDO:466718/attributed", source="ORDO:466718/ntbt", source="MONDO:relatedTo", source="Orphanet:466718"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:466718/attributed", source="Orphanet:466718/ntbt", source="Orphanet:466718"} xref: OMIM:617111 {source="MONDO:equivalentTo", source="DOID:0060865", source="Orphanet:466718"} xref: Orphanet:466718 {source="MONDO:equivalentTo"} xref: UMLS:C4310713 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -297557,7 +297399,7 @@ synonym: "GABRB3 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: DOID:0080447 {source="MONDO:equivalentTo"} xref: OMIM:617113 {source="MONDO:equivalentTo"} xref: UMLS:C4310712 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016532 {source="ORDO:2382/btnt"} ! Lennox-Gastaut syndrome +is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome is_a: MONDO:0100062 {source="DC-OMIM:617113", source="MONDO:Redundant", source="OMIM:617113"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4083 ! GABRB3 @@ -297595,7 +297437,7 @@ synonym: "PSS5" EXACT ABBREVIATION [OMIM:617115] synonym: "SERPINB8 peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:617115 {source="MONDO:equivalentTo"} xref: UMLS:C4310710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017339 {source="ORDO:289586/btnt"} ! exfoliative ichthyosis +is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis is_a: MONDO:0019347 {source="DC-OMIM:617115", source="MONDO:Redundant", source="OMIM:617115"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8952 ! SERPINB8 @@ -297770,7 +297612,7 @@ synonym: "UBA5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pat xref: DOID:0080424 {source="MONDO:equivalentTo"} xref: OMIM:617132 {source="MONDO:equivalentTo"} xref: UMLS:C4310700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617132", source="MONDO:Redundant", source="OMIM:617132"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23230 ! UBA5 @@ -297847,7 +297689,7 @@ xref: MESH:C536372 {source="MONDO:equivalentTo"} xref: OMIM:617141 {source="MONDO:equivalentTo"} xref: SCTID:253232000 {source="MONDO:equivalentTo"} xref: UMLS:C0344543 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007119 {source="OMIM:617141", source="ORDO:250923/btnt"} ! isolated aniridia +is_a: MONDO:0007119 {source="OMIM:617141", source="Orphanet:250923/btnt"} ! isolated aniridia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1171 {source="mim2gene_medgen"} ! ELP4 property_value: confidence "3.4285714285714297" xsd:double @@ -297863,7 +297705,7 @@ synonym: "isolated aniridia caused by mutation in TRIM44" EXACT [MONDO:design_pa synonym: "TRIM44 isolated aniridia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:617142 {source="MONDO:equivalentTo"} xref: UMLS:C4310695 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007119 {source="MONDO:Redundant", source="OMIM:617142", source="ORDO:250923/btnt"} ! isolated aniridia +is_a: MONDO:0007119 {source="MONDO:Redundant", source="OMIM:617142", source="Orphanet:250923/btnt"} ! isolated aniridia intersection_of: MONDO:0007119 ! isolated aniridia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19016 ! TRIM44 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19016 {source="mim2gene_medgen"} ! TRIM44 @@ -297883,7 +297725,7 @@ xref: DOID:0110661 {source="MONDO:equivalentTo"} xref: OMIM:617143 {source="MONDO:equivalentTo", source="DOID:0110661"} xref: UMLS:C4310694 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="DOID:0110661", source="MONDO:Redundant", source="OMIM:617143", source="indirect"} ! congenital myasthenic syndrome -is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome +is_a: MONDO:0020345 {source="Orphanet:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14025 ! SLC5A7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14025 {source="mim2gene_medgen"} ! SLC5A7 @@ -297927,7 +297769,7 @@ synonym: "GABRB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: DOID:0080428 {source="MONDO:equivalentTo"} xref: OMIM:617153 {source="MONDO:equivalentTo"} xref: UMLS:C4310691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617153", source="MONDO:Redundant", source="OMIM:617153"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4081 ! GABRB1 @@ -297958,7 +297800,7 @@ name: short stature-brachydactyly-obesity-global developmental delay syndrome subset: ordo_malformation_syndrome {source="Orphanet:464288"} synonym: "SBIDDS" EXACT ABBREVIATION [OMIM:617157] synonym: "short stature, brachydactyly, intellectual developmental disability, and seizures" EXACT [OMIM:617157] -xref: OMIM:617157 {source="ORDO:464288/e", source="Orphanet:464288", source="MONDO:equivalentTo"} +xref: OMIM:617157 {source="Orphanet:464288", source="MONDO:equivalentTo", source="Orphanet:464288/e"} xref: Orphanet:464288 {source="MONDO:equivalentTo"} xref: UMLS:C4310689 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464288", source="indirect"} ! syndromic intellectual disability @@ -298009,7 +297851,7 @@ synonym: "GRIN2D early infantile epileptic encephalopathy" EXACT [MONDO:design_p xref: DOID:0080456 {source="MONDO:equivalentTo"} xref: OMIM:617162 {source="MONDO:equivalentTo"} xref: UMLS:C4310687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617162", source="MONDO:Redundant", source="OMIM:617162"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4588 ! GRIN2D @@ -298043,7 +297885,7 @@ synonym: "FGF12 early infantile epileptic encephalopathy" EXACT [MONDO:design_pa xref: DOID:0080425 {source="MONDO:equivalentTo"} xref: OMIM:617166 {source="MONDO:equivalentTo"} xref: UMLS:C4310685 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018614 {source="ORDO:442835/btnt"} ! undetermined early-onset epileptic encephalopathy +is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617166", source="MONDO:Redundant", source="OMIM:617166"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3668 ! FGF12 @@ -298062,7 +297904,7 @@ synonym: "familial thoracic aortic aneurysm and aortic dissection caused by muta synonym: "LOX familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:617168 {source="MONDO:equivalentTo"} xref: UMLS:C4284414 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:617168", source="ORDO:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection +is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:617168", source="Orphanet:91387/btnt", source="indirect"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6664 ! LOX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6664 {source="mim2gene_medgen"} ! LOX @@ -298095,7 +297937,7 @@ subset: ordo_disease {source="Orphanet:468620"} synonym: "DYSEIDD" RELATED ABBREVIATION [OMIM:617171] synonym: "dyskinesia, seizures, and intellectual developmental disorder" RELATED [OMIM:617171] synonym: "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" EXACT [OMIM:617171, OMIM:genemap2] -xref: OMIM:617171 {source="Orphanet:468620", source="MONDO:equivalentTo", source="ORDO:468620/e"} +xref: OMIM:617171 {source="Orphanet:468620", source="MONDO:equivalentTo", source="Orphanet:468620/e"} xref: Orphanet:468620 {source="MONDO:equivalentTo"} xref: UMLS:C4310683 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:468620"} ! syndromic intellectual disability @@ -298126,7 +297968,7 @@ synonym: "EDSPD2" RELATED ABBREVIATION [OMIM:617174] synonym: "Ehlers-Danlos syndrome, periodontal type, 2" RELATED [OMIM:617174] xref: OMIM:617174 {source="MONDO:equivalentTo"} xref: UMLS:C4310681 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007527 {source="ORDO:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type +is_a: MONDO:0007527 {source="Orphanet:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type intersection_of: MONDO:0007527 ! Ehlers-Danlos syndrome, periodontitis type intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1247 ! C1S relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1247 {source="mim2gene_medgen"} ! C1S @@ -298339,7 +298181,6 @@ name: isolated sedoheptulokinase deficiency subset: ordo_disease {source="Orphanet:440713"} synonym: "isolated SHPK deficiency" EXACT [Orphanet:440713] synonym: "sedoheptulokinase deficiency" EXACT [OMIM:617213, OMIM:genemap2] -synonym: "sedoheptulokinase deficiency" EXACT [OMIM:617213] synonym: "SHPKD" EXACT ABBREVIATION [OMIM:617213] xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:617213 {source="MONDO:equivalentTo", source="Orphanet:440713"} @@ -298379,7 +298220,7 @@ synonym: "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6" EXACT [] xref: OMIM:617217 {source="MONDO:equivalentTo"} xref: UMLS:C4310665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease -is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! amelogenesis imperfecta type 2 +is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:617217", source="indirect"} ! amelogenesis imperfecta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4519 {source="mim2gene_medgen"} ! GPR68 property_value: confidence "1.2580117077907054" xsd:double @@ -299035,7 +298876,7 @@ synonym: "atypical NKA" EXACT [Orphanet:289863] synonym: "atypical non-ketotic hyperglycinemia" EXACT [Orphanet:289863] synonym: "GLYCINE encephalopathy with normal serum GLYCINE" RELATED [OMIM:617301] synonym: "Glycine encephalopathy with normal serum Glycine" RELATED [OMIM:617301] -xref: ICD10CM:E72.5 {source="Orphanet:289863", source="ORDO:289863/attributed", source="ORDO:289863/ntbt"} +xref: ICD10CM:E72.5 {source="Orphanet:289863/attributed", source="Orphanet:289863/ntbt", source="Orphanet:289863"} xref: OMIM:617301 {source="Orphanet:289863", source="MONDO:equivalentTo"} xref: Orphanet:289863 {source="MONDO:equivalentTo"} xref: UMLS:C4310943 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -299325,10 +299166,10 @@ subset: ordo_disease {source="Orphanet:99879"} synonym: "familial isolated hyperparathyroidism" EXACT [NCIT:C94830] synonym: "FIHP" EXACT ABBREVIATION [NCIT:C94830] synonym: "FIHPT" EXACT ABBREVIATION [Orphanet:99879] -xref: ICD10CM:E21.0 {source="Orphanet:99879", source="ORDO:99879/attributed", source="ORDO:99879/ntbt"} +xref: ICD10CM:E21.0 {source="Orphanet:99879", source="Orphanet:99879/attributed", source="Orphanet:99879/ntbt"} xref: NCIT:C94830 {source="MONDO:equivalentTo"} -xref: OMIM:145000 {source="MONDO:superClassOf", source="Orphanet:99879", source="ORDO:99879/btnt"} -xref: OMIM:610071 {source="MONDO:superClassOf", source="Orphanet:99879", source="ORDO:99879/btnt"} +xref: OMIM:145000 {source="MONDO:superClassOf", source="Orphanet:99879", source="Orphanet:99879/btnt"} +xref: OMIM:610071 {source="MONDO:superClassOf", source="Orphanet:99879", source="Orphanet:99879/btnt"} xref: OMIM:617343 {source="MONDO:superClassOf", source="Orphanet:99879"} xref: Orphanet:99879 {source="MONDO:equivalentTo"} xref: UMLS:CN207422 {source="MONDO:equivalentTo"} @@ -299348,13 +299189,13 @@ synonym: "48,XXYY Klinefelter syndrome" RELATED [GARD:0005677] synonym: "48,XXYY variant of Klinefelter's syndrome" RELATED [GARD:0005677] synonym: "XXYY syndrome" RELATED [GARD:0005677] xref: GARD:0005677 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q98.8 {source="Orphanet:10", source="ORDO:10/attributed", source="ORDO:10/ntbt"} +xref: ICD10CM:Q98.8 {source="Orphanet:10", source="Orphanet:10/attributed", source="Orphanet:10/ntbt"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048230 {source="Orphanet:10", source="ORDO:10/e"} +xref: MedDRA:10048230 {source="Orphanet:10", source="Orphanet:10/e"} xref: NCIT:C89801 {source="MONDO:equivalentTo"} xref: Orphanet:10 {source="MONDO:equivalentTo"} xref: SCTID:403760006 {source="MONDO:equivalentTo"} -xref: UMLS:C2936741 {source="Orphanet:10", source="ORDO:10/e", source="MONDO:equivalentTo", source="NCIT:C89801"} +xref: UMLS:C2936741 {source="Orphanet:10", source="MONDO:equivalentTo", source="Orphanet:10/e", source="NCIT:C89801"} is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C89801", source="indirect"} ! syndromic disease is_a: MONDO:0015620 {source="Orphanet:10"} ! syndromic urogenital tract malformation @@ -299403,7 +299244,7 @@ xref: NCIT:C6911 {source="DOID:4696", source="MONDO:equivalentTo"} xref: Orphanet:100003 {source="MONDO:equivalentTo"} xref: SCTID:128795001 {source="DOID:4696"} xref: SCTID:768934004 {source="MONDO:equivalentTo"} -xref: UMLS:C1370658 {source="ORDO:100003/e", source="DOID:4696", source="Orphanet:100003", source="MONDO:equivalentTo", source="NCIT:C6911"} +xref: UMLS:C1370658 {source="DOID:4696", source="Orphanet:100003", source="MONDO:equivalentTo", source="NCIT:C6911", source="Orphanet:100003/e"} is_a: MONDO:0001406 {source="DOID:4696/inferred", source="MONDO:Redundant", source="NCIT:C6911", source="indirect"} ! peripheral nervous system neoplasm is_a: MONDO:0019404 {source="DOID:4696", source="NCIT:C6911", source="Orphanet:100003"} ! perineurioma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma xsd:anyURI {source="GARD:0010921"} @@ -299418,16 +299259,16 @@ synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" EXACT [DOID:0 synonym: "HCHWA, Dutch type" EXACT [Orphanet:100006] synonym: "HCHWA-D" EXACT [Orphanet:100006] synonym: "hereditary cerebral hemorrhage with amyloidosis, Dutch type" EXACT [Orphanet:100006] -xref: ICD10EXP:E85.4+ {source="ORDO:100006/attributed", source="ORDO:100006/ntbt", source="Orphanet:100006"} -xref: ICD10EXP:I68.0* {source="ORDO:100006/attributed", source="ORDO:100006/ntbt", source="Orphanet:100006"} +xref: ICD10EXP:E85.4+ {source="Orphanet:100006", source="Orphanet:100006/attributed", source="Orphanet:100006/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:100006", source="Orphanet:100006/attributed", source="Orphanet:100006/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537944 {source="Orphanet:100006", source="ORDO:100006/e"} -xref: MESH:D028243 {source="Orphanet:100006", source="ORDO:100006/e"} -xref: OMIM:605714 {source="MONDO:subClassOf", source="ORDO:100006/ntbt", source="Orphanet:100006"} +xref: MESH:C537944 {source="Orphanet:100006", source="Orphanet:100006/e"} +xref: MESH:D028243 {source="Orphanet:100006", source="Orphanet:100006/e"} +xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:100006", source="Orphanet:100006/ntbt"} xref: Orphanet:100006 {source="MONDO:equivalentTo"} xref: SCTID:56453003 {source="MONDO:equivalentTo"} -xref: UMLS:C0268394 {source="Orphanet:100006", source="MONDO:notFoundInDiseaseSubset", source="ORDO:100006/e"} -xref: UMLS:C2931672 {source="Orphanet:100006", source="MONDO:notFoundInDiseaseSubset", source="ORDO:100006/e"} +xref: UMLS:C0268394 {source="Orphanet:100006", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100006/e"} +xref: UMLS:C2931672 {source="Orphanet:100006", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100006/e"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: confidence "0.5" xsd:double @@ -299436,7 +299277,7 @@ id: MONDO:0015034 name: lissencephaly with cerebellar hypoplasia type A def: "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." [Orphanet:100011] subset: ordo_malformation_syndrome {source="Orphanet:100011"} -xref: ICD10CM:Q04.3 {source="Orphanet:100011", source="ORDO:100011/attributed", source="ORDO:100011/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:100011", source="Orphanet:100011/attributed", source="Orphanet:100011/ntbt"} xref: Orphanet:100011 {source="MONDO:equivalentTo"} xref: UMLS:CN228900 {source="MONDO:equivalentTo"} is_a: MONDO:0019450 {source="Orphanet:100011"} ! lissencephaly with cerebellar hypoplasia @@ -299446,7 +299287,7 @@ id: MONDO:0015035 name: lissencephaly with cerebellar hypoplasia type B def: "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." [Orphanet:100012] subset: ordo_malformation_syndrome {source="Orphanet:100012"} -xref: ICD10CM:Q04.3 {source="Orphanet:100012", source="ORDO:100012/attributed", source="ORDO:100012/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:100012/attributed", source="Orphanet:100012/ntbt", source="Orphanet:100012"} xref: Orphanet:100012 {source="MONDO:equivalentTo"} xref: SCTID:715819005 {source="MONDO:equivalentTo"} xref: UMLS:C4274993 {source="MONDO:equivalentTo"} @@ -299458,7 +299299,7 @@ id: MONDO:0015036 name: lissencephaly with cerebellar hypoplasia type C def: "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." [Orphanet:100013] subset: ordo_malformation_syndrome {source="Orphanet:100013"} -xref: ICD10CM:Q04.3 {source="Orphanet:100013", source="ORDO:100013/attributed", source="ORDO:100013/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:100013", source="Orphanet:100013/attributed", source="Orphanet:100013/ntbt"} xref: Orphanet:100013 {source="MONDO:equivalentTo"} xref: SCTID:715820004 {source="MONDO:equivalentTo"} xref: UMLS:C4274992 {source="MONDO:equivalentTo"} @@ -299470,7 +299311,7 @@ id: MONDO:0015037 name: lissencephaly with cerebellar hypoplasia type D def: "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." [Orphanet:100014] subset: ordo_malformation_syndrome {source="Orphanet:100014"} -xref: ICD10CM:Q04.3 {source="Orphanet:100014", source="ORDO:100014/attributed", source="ORDO:100014/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:100014/attributed", source="Orphanet:100014/ntbt", source="Orphanet:100014"} xref: Orphanet:100014 {source="MONDO:equivalentTo"} xref: SCTID:715821000 {source="MONDO:equivalentTo"} xref: UMLS:C4274991 {source="MONDO:equivalentTo"} @@ -299482,7 +299323,7 @@ id: MONDO:0015038 name: lissencephaly with cerebellar hypoplasia type E def: "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." [Orphanet:100015] subset: ordo_malformation_syndrome {source="Orphanet:100015"} -xref: ICD10CM:Q04.3 {source="Orphanet:100015", source="ORDO:100015/attributed", source="ORDO:100015/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:100015/attributed", source="Orphanet:100015/ntbt", source="Orphanet:100015"} xref: Orphanet:100015 {source="MONDO:equivalentTo"} xref: UMLS:CN228904 {source="MONDO:equivalentTo"} is_a: MONDO:0019450 {source="Orphanet:100015"} ! lissencephaly with cerebellar hypoplasia @@ -299492,7 +299333,7 @@ id: MONDO:0015039 name: lissencephaly with cerebellar hypoplasia type F def: "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." [Orphanet:100016] subset: ordo_malformation_syndrome {source="Orphanet:100016"} -xref: ICD10CM:Q04.3 {source="ORDO:100016/attributed", source="ORDO:100016/ntbt", source="Orphanet:100016"} +xref: ICD10CM:Q04.3 {source="Orphanet:100016", source="Orphanet:100016/attributed", source="Orphanet:100016/ntbt"} xref: Orphanet:100016 {source="MONDO:equivalentTo"} xref: SCTID:715822007 {source="MONDO:equivalentTo"} xref: UMLS:C4274989 {source="MONDO:equivalentTo"} @@ -299509,10 +299350,10 @@ synonym: "myelodysplastic syndrome with Excess blasts-1" EXACT [NCIT:C7167] synonym: "RAEB-1" EXACT [NCIT:C7167, Orphanet:100019] synonym: "RAEB-I" EXACT [NCIT:C7167] synonym: "refractory anemia with excess blasts type 1" RELATED [Orphanet:100019] -xref: ICD10CM:D46.2 {source="ORDO:100019/ntbt", source="Orphanet:100019"} +xref: ICD10CM:D46.2 {source="Orphanet:100019", source="Orphanet:100019/ntbt"} xref: NCIT:C7167 {source="MONDO:equivalentTo"} xref: Orphanet:100019 {source="MONDO:equivalentTo"} -xref: UMLS:C1318550 {source="MONDO:equivalentTo", source="Orphanet:100019", source="ORDO:100019/e"} +xref: UMLS:C1318550 {source="MONDO:equivalentTo", source="Orphanet:100019", source="Orphanet:100019/e"} is_a: MONDO:0019454 {source="NCIT:C7167", source="Orphanet:100019"} ! myelodysplastic syndrome with excess blasts [Term] @@ -299525,17 +299366,17 @@ synonym: "myelodysplastic syndrome with Excess blasts-2" EXACT [NCIT:C7168] synonym: "RAEB-2" EXACT [NCIT:C7168, Orphanet:100020] synonym: "RAEB-II" EXACT [NCIT:C7168] synonym: "refractory anemia with excess blasts type 2" RELATED [Orphanet:100020] -xref: ICD10CM:D46.2 {source="ORDO:100020/ntbt", source="Orphanet:100020"} +xref: ICD10CM:D46.2 {source="Orphanet:100020/ntbt", source="Orphanet:100020"} xref: NCIT:C7168 {source="MONDO:equivalentTo"} xref: Orphanet:100020 {source="MONDO:equivalentTo"} -xref: UMLS:C1318551 {source="MONDO:equivalentTo", source="Orphanet:100020", source="ORDO:100020/e"} +xref: UMLS:C1318551 {source="Orphanet:100020/e", source="MONDO:equivalentTo", source="Orphanet:100020"} is_a: MONDO:0019454 {source="NCIT:C7168", source="Orphanet:100020"} ! myelodysplastic syndrome with excess blasts [Term] id: MONDO:0015042 name: primary plasmacytoma of the bone subset: ordo_clinical_subtype {source="Orphanet:100021"} -xref: ICD10CM:C90.3 {source="Orphanet:100021", source="ORDO:100021/e"} +xref: ICD10CM:C90.3 {source="Orphanet:100021", source="Orphanet:100021/e"} xref: Orphanet:100021 {source="MONDO:equivalentTo"} xref: UMLS:CN197327 {source="MONDO:equivalentTo"} is_a: MONDO:0005615 {source="Orphanet:100021"} ! plasmacytoma @@ -299544,7 +299385,7 @@ is_a: MONDO:0005615 {source="Orphanet:100021"} ! plasmacytoma id: MONDO:0015043 name: extramedullary soft tissue plasmacytoma subset: ordo_clinical_subtype {source="Orphanet:100022"} -xref: ICD10CM:C90.2 {source="Orphanet:100022", source="ORDO:100022/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:C90.2 {source="Orphanet:100022", source="Orphanet:100022/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:100022 {source="MONDO:equivalentTo"} xref: UMLS:CN197328 {source="MONDO:equivalentTo"} is_a: MONDO:0005615 {source="Orphanet:100022"} ! plasmacytoma @@ -299558,7 +299399,7 @@ synonym: "mu chain disease" EXACT [MONDO:0000658] synonym: "mu heavy chain disease" EXACT [NCIT:C3892] synonym: "mu-HCD" EXACT [Orphanet:100024] xref: DOID:0060128 {source="MONDO:equivalentTo"} -xref: ICD10CM:C88.2 {source="MONDO:subClassOf", source="Orphanet:100024", source="ORDO:100024/ntbt"} +xref: ICD10CM:C88.2 {source="MONDO:subClassOf", source="Orphanet:100024", source="Orphanet:100024/ntbt"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C3892 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:100024 {source="MONDO:equivalentTo"} @@ -299582,7 +299423,7 @@ synonym: "Mediterraneanl lymphoma" EXACT [NCIT:C3132] synonym: "Seligmann's disease" RELATED [DOID:0060126, Wikipedia:Heavy_chain_disease] xref: DOID:0060126 {source="MONDO:equivalentTo"} xref: EFO:1001798 {source="MONDO:equivalentTo"} -xref: ICD10CM:C88.3 {source="Orphanet:100025", source="ORDO:100025/ntbt"} +xref: ICD10CM:C88.3 {source="Orphanet:100025/ntbt", source="Orphanet:100025"} xref: ICDO:9760/3 {source="NCIT:C3132"} xref: ICDO:9764/3 {source="NCIT:C3132"} xref: MESH:D007161 {source="MONDO:equivalentTo"} @@ -299602,7 +299443,7 @@ synonym: "gamma heavy chain disease" EXACT [MONDO:0000657, NCIT:C3083] synonym: "gamma-HCD" EXACT [Orphanet:100026] xref: DOID:0060127 {source="MONDO:equivalentTo"} xref: GARD:0010346 {source="MONDO:equivalentTo"} -xref: ICD10CM:C88.2 {source="MONDO:subClassOf", source="Orphanet:100026", source="ORDO:100026/ntbt"} +xref: ICD10CM:C88.2 {source="MONDO:subClassOf", source="Orphanet:100026/ntbt", source="Orphanet:100026"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C3083 {source="MONDO:equivalentTo"} xref: Orphanet:100026 {source="MONDO:equivalentTo"} @@ -299615,14 +299456,14 @@ id: MONDO:0015047 name: amelogenesis imperfecta type 1 subset: ordo_clinical_subtype {source="Orphanet:100031"} synonym: "hypoplastic amelogenesis imperfecta" EXACT [Orphanet:100031] -xref: ICD10CM:K00.5 {source="ORDO:100031/attributed", source="ORDO:100031/ntbt", source="Orphanet:100031"} +xref: ICD10CM:K00.5 {source="Orphanet:100031/attributed", source="Orphanet:100031/ntbt", source="Orphanet:100031"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:104500 {source="MONDO:superClassOf", source="ORDO:100031/btnt", source="Orphanet:100031"} -xref: OMIM:104530 {source="MONDO:superClassOf", source="ORDO:100031/btnt", source="Orphanet:100031"} -xref: OMIM:204650 {source="MONDO:superClassOf", source="ORDO:100031/btnt", source="Orphanet:100031"} -xref: OMIM:301201 {source="MONDO:superClassOf", source="ORDO:100031/btnt", source="Orphanet:100031"} -xref: OMIM:616221 {source="MONDO:superClassOf", source="ORDO:100031/btnt", source="Orphanet:100031"} -xref: OMIM:616270 {source="MONDO:superClassOf", source="ORDO:100031/btnt", source="Orphanet:100031"} +xref: OMIM:104500 {source="MONDO:superClassOf", source="Orphanet:100031/btnt", source="Orphanet:100031"} +xref: OMIM:104530 {source="MONDO:superClassOf", source="Orphanet:100031/btnt", source="Orphanet:100031"} +xref: OMIM:204650 {source="MONDO:superClassOf", source="Orphanet:100031/btnt", source="Orphanet:100031"} +xref: OMIM:301201 {source="MONDO:superClassOf", source="Orphanet:100031/btnt", source="Orphanet:100031"} +xref: OMIM:616221 {source="MONDO:superClassOf", source="Orphanet:100031/btnt", source="Orphanet:100031"} +xref: OMIM:616270 {source="MONDO:superClassOf", source="Orphanet:100031/btnt", source="Orphanet:100031"} xref: OMIM:617297 {source="MONDO:superClassOf", source="Orphanet:100031"} xref: Orphanet:100031 {source="MONDO:equivalentTo"} xref: SCTID:109476006 {source="MONDO:equivalentTo"} @@ -299637,19 +299478,19 @@ subset: ordo_clinical_subtype {source="Orphanet:100033"} synonym: "amelogenesis imperfecta hypomaturation type" RELATED [GARD:0008349] synonym: "hypomaturation amelogenesis imperfecta" EXACT [Orphanet:100033] xref: GARD:0008349 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="Orphanet:100033", source="ORDO:100033/attributed", source="ORDO:100033/ntbt"} +xref: ICD10CM:K00.5 {source="Orphanet:100033", source="Orphanet:100033/attributed", source="Orphanet:100033/ntbt"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536606 {source="Orphanet:100033", source="ORDO:100033/e", source="MONDO:equivalentTo"} -xref: OMIM:204700 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} -xref: OMIM:301200 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} -xref: OMIM:612529 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} -xref: OMIM:613211 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} -xref: OMIM:614832 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} -xref: OMIM:615887 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} -xref: OMIM:617217 {source="Orphanet:100033", source="MONDO:superClassOf", source="ORDO:100033/btnt"} +xref: MESH:C536606 {source="Orphanet:100033", source="MONDO:equivalentTo", source="Orphanet:100033/e"} +xref: OMIM:204700 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} +xref: OMIM:301200 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} +xref: OMIM:612529 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} +xref: OMIM:613211 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} +xref: OMIM:614832 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} +xref: OMIM:615887 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} +xref: OMIM:617217 {source="Orphanet:100033", source="Orphanet:100033/btnt", source="MONDO:superClassOf"} xref: Orphanet:100033 {source="MONDO:equivalentTo"} xref: SCTID:109475005 {source="MONDO:equivalentTo"} -xref: UMLS:C0399372 {source="Orphanet:100033", source="ORDO:100033/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0399372 {source="Orphanet:100033", source="Orphanet:100033/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019507 {source="MESH:C536606", source="Orphanet:100033", source="linkedlifedata"} ! amelogenesis imperfecta [Term] @@ -299658,7 +299499,7 @@ name: solitary necrotic nodule of the liver def: "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." [Orphanet:100035] subset: ordo_disease {source="Orphanet:100035"} synonym: "hepatic solitary necrotic nodule" EXACT [Orphanet:100035] -xref: ICD10CM:D13.4 {source="Orphanet:100035", source="ORDO:100035/ntbt"} +xref: ICD10CM:D13.4 {source="Orphanet:100035", source="Orphanet:100035/ntbt"} xref: Orphanet:100035 {source="MONDO:equivalentTo"} xref: SCTID:447058001 {source="MONDO:equivalentTo"} xref: UMLS:CN197336 {source="MONDO:equivalentTo"} @@ -299670,7 +299511,7 @@ id: MONDO:0015050 name: esophageal duplication cyst def: "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." [Orphanet:100047] subset: ordo_morphological_anomaly {source="Orphanet:100047"} -xref: ICD10CM:Q39.8 {source="Orphanet:100047", source="ORDO:100047/attributed", source="ORDO:100047/ntbt"} +xref: ICD10CM:Q39.8 {source="Orphanet:100047/attributed", source="Orphanet:100047/ntbt", source="Orphanet:100047"} xref: Orphanet:100047 {source="MONDO:equivalentTo"} xref: SCTID:721161005 {source="MONDO:equivalentTo"} is_a: MONDO:0019619 {source="Orphanet:100047"} ! duplication of the esophagus @@ -299680,7 +299521,7 @@ id: MONDO:0015051 name: tubular duplication of the esophagus def: "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." [Orphanet:100048] subset: ordo_morphological_anomaly {source="Orphanet:100048"} -xref: ICD10CM:Q39.8 {source="Orphanet:100048", source="ORDO:100048/attributed", source="ORDO:100048/ntbt"} +xref: ICD10CM:Q39.8 {source="Orphanet:100048/attributed", source="Orphanet:100048/ntbt", source="Orphanet:100048"} xref: Orphanet:100048 {source="MONDO:equivalentTo"} is_a: MONDO:0019619 {source="Orphanet:100048"} ! duplication of the esophagus @@ -299706,14 +299547,14 @@ subset: ordo_etiological_subtype {source="Orphanet:100050"} synonym: "HAE 1" EXACT [Orphanet:100050] synonym: "HAE-I" EXACT [Orphanet:100050] synonym: "hereditary angioneurotic edema type 1" EXACT [Orphanet:100050] -xref: ICD10CM:D84.1 {source="ORDO:100050/attributed", source="ORDO:100050/ntbt", source="Orphanet:100050"} +xref: ICD10CM:D84.1 {source="Orphanet:100050/attributed", source="Orphanet:100050/ntbt", source="Orphanet:100050"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538577 {source="ORDO:100050/e", source="Orphanet:100050"} -xref: OMIM:106100 {source="MONDO:subClassOf", source="ORDO:100050/e", source="Orphanet:100050"} +xref: MESH:C538577 {source="Orphanet:100050/e", source="Orphanet:100050"} +xref: OMIM:106100 {source="MONDO:subClassOf", source="Orphanet:100050/e", source="Orphanet:100050"} xref: Orphanet:100050 {source="MONDO:equivalentTo"} xref: SCTID:234619000 {source="MONDO:equivalentTo"} -xref: UMLS:C0398775 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:100050/e", source="Orphanet:100050"} -xref: UMLS:C2717906 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:100050/e", source="Orphanet:100050"} +xref: UMLS:C0398775 {source="Orphanet:100050/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100050"} +xref: UMLS:C2717906 {source="Orphanet:100050/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100050"} is_a: MONDO:0033946 {source="Orphanet:100050"} ! hereditary angioedema with C1Inh deficiency [Term] @@ -299724,11 +299565,11 @@ subset: ordo_etiological_subtype {source="Orphanet:100051"} synonym: "HAE 2" EXACT [Orphanet:100051] synonym: "HAE-II" EXACT [Orphanet:100051] synonym: "hereditary angioneurotic edema type 2" EXACT [Orphanet:100051] -xref: ICD10CM:D84.1 {source="Orphanet:100051", source="ORDO:100051/attributed", source="ORDO:100051/ntbt"} -xref: OMIM:106100 {source="MONDO:subClassOf", source="Orphanet:100051", source="ORDO:100051/ntbt"} +xref: ICD10CM:D84.1 {source="Orphanet:100051/attributed", source="Orphanet:100051/ntbt", source="Orphanet:100051"} +xref: OMIM:106100 {source="MONDO:subClassOf", source="Orphanet:100051/ntbt", source="Orphanet:100051"} xref: Orphanet:100051 {source="MONDO:equivalentTo"} -xref: UMLS:C0398776 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100051", source="ORDO:100051/e"} -xref: UMLS:C1862892 {source="MONDO:equivalentTo", source="Orphanet:100051", source="ORDO:100051/e"} +xref: UMLS:C0398776 {source="Orphanet:100051/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100051"} +xref: UMLS:C1862892 {source="Orphanet:100051/e", source="MONDO:equivalentTo", source="Orphanet:100051"} is_a: MONDO:0033946 {source="Orphanet:100051"} ! hereditary angioedema with C1Inh deficiency [Term] @@ -299739,7 +299580,7 @@ subset: ordo_clinical_subtype {source="Orphanet:100055"} synonym: "AAE 2" EXACT [Orphanet:100055] synonym: "AAE II" EXACT [Orphanet:100055] synonym: "acquired angioneurotic edema type 2" EXACT [Orphanet:100055] -xref: ICD10CM:T78.3 {source="Orphanet:100055", source="ORDO:100055/ntbt"} +xref: ICD10CM:T78.3 {source="Orphanet:100055", source="Orphanet:100055/ntbt"} xref: Orphanet:100055 {source="MONDO:equivalentTo"} xref: UMLS:CN197347 {source="MONDO:equivalentTo"} is_a: MONDO:0019624 {source="Orphanet:100055"} ! acquired angioedema @@ -299750,7 +299591,7 @@ name: acquired angioedema type 1 def: "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100056] subset: ordo_clinical_subtype {source="Orphanet:100056"} synonym: "acquired angioneurotic edema type 1" EXACT [Orphanet:100056] -xref: ICD10CM:T78.3 {source="Orphanet:100056", source="ORDO:100056/ntbt"} +xref: ICD10CM:T78.3 {source="Orphanet:100056/ntbt", source="Orphanet:100056"} xref: Orphanet:100056 {source="MONDO:equivalentTo"} xref: UMLS:CN197348 {source="MONDO:equivalentTo"} is_a: MONDO:0019624 {source="Orphanet:100056"} ! acquired angioedema @@ -299770,9 +299611,9 @@ synonym: "reactive angioendotheliomatosis" RELATED [GARD:0009445] synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" EXACT [Orphanet:100057] synonym: "susceptibility to angioedema induced by ace inhibitors" RELATED [OMIM:300909] xref: GARD:0009445 {source="MONDO:equivalentTo"} -xref: ICD10CM:T78.3 {source="Orphanet:100057", source="ORDO:100057/ntbt"} +xref: ICD10CM:T78.3 {source="Orphanet:100057", source="Orphanet:100057/ntbt"} xref: MESH:C535293 {source="MONDO:equivalentTo"} -xref: OMIM:300909 {source="Orphanet:100057", source="MONDO:relatedTo", source="ORDO:100057/btnt"} +xref: OMIM:300909 {source="Orphanet:100057", source="MONDO:relatedTo", source="Orphanet:100057/btnt"} xref: Orphanet:100057 {source="MONDO:equivalentTo"} xref: SCTID:403607004 {source="MONDO:equivalentTo"} xref: UMLS:C1304495 {source="MONDO:equivalentTo"} @@ -299798,15 +299639,15 @@ synonym: "non-fluent primary progressive aphasia" RELATED [GARD:0010793] synonym: "non-fluent variant PPA" EXACT [Orphanet:100070] synonym: "Primary Progressive Nonfluent aphasia" EXACT [NCIT:C85025] xref: GARD:0010793 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.0 {source="ORDO:100070/attributed", source="ORDO:100070/ntbt", source="Orphanet:100070"} -xref: MedDRA:10029542 {source="ORDO:100070/e", source="Orphanet:100070"} -xref: MESH:D057178 {source="MONDO:equivalentTo", source="ORDO:100070/e", source="Orphanet:100070"} +xref: ICD10CM:G31.0 {source="Orphanet:100070/attributed", source="Orphanet:100070/ntbt", source="Orphanet:100070"} +xref: MedDRA:10029542 {source="Orphanet:100070/e", source="Orphanet:100070"} +xref: MESH:D057178 {source="Orphanet:100070/e", source="MONDO:equivalentTo", source="Orphanet:100070"} xref: NCIT:C85025 {source="MONDO:equivalentTo"} xref: OMIM:600274 {source="MONDO:superClassOf", source="Orphanet:100070"} -xref: OMIM:607485 {source="MONDO:subClassOf", source="ORDO:100070/ntbt", source="Orphanet:100070"} +xref: OMIM:607485 {source="MONDO:subClassOf", source="Orphanet:100070/ntbt", source="Orphanet:100070"} xref: Orphanet:100070 {source="MONDO:equivalentTo"} xref: SCTID:716281000 {source="MONDO:equivalentTo"} -xref: UMLS:C0751706 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:100070/e", source="Orphanet:100070"} +xref: UMLS:C0751706 {source="Orphanet:100070/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100070"} is_a: MONDO:0005395 ! movement disorder is_a: MONDO:0011842 ! Grn-related frontotemporal lobar degeneration with Tdp43 inclusions is_a: MONDO:0019806 {source="MESH:D057178", source="NCIT:C85025", source="Orphanet:100070", source="indirect"} ! primary progressive aphasia @@ -299824,7 +299665,7 @@ synonym: "Mosaic trisomy chromosome 3" EXACT [Orphanet:100071] synonym: "Mosaic trisomy type 3" EXACT [MONDORULE:1, Orphanet:100071] synonym: "trisomy 3 mosaicism" EXACT [Orphanet:100071] xref: GARD:0005342 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.1 {source="ORDO:100071/attributed", source="ORDO:100071/ntbt", source="Orphanet:100071"} +xref: ICD10CM:Q92.1 {source="Orphanet:100071", source="Orphanet:100071/attributed", source="Orphanet:100071/ntbt"} xref: Orphanet:100071 {source="MONDO:equivalentTo"} xref: SCTID:764627005 {source="MONDO:equivalentTo"} xref: UMLS:CN073992 {source="MONDO:equivalentTo"} @@ -299844,7 +299685,7 @@ synonym: "neurogenic costoclavicular syndrome" EXACT [Orphanet:100073] synonym: "neurogenic thoracic outlet compression syndrome" EXACT [Orphanet:100073] synonym: "neurogenic TOS" EXACT [Orphanet:100073] synonym: "NTOS" EXACT ABBREVIATION [Orphanet:100073] -xref: ICD10CM:G54.0 {source="Orphanet:100073", source="ORDO:100073/ntbt"} +xref: ICD10CM:G54.0 {source="Orphanet:100073/ntbt", source="Orphanet:100073"} xref: Orphanet:100073 {source="MONDO:equivalentTo"} xref: SCTID:2040007 {source="MONDO:equivalentTo"} xref: UMLS:C0751549 {source="MONDO:equivalentTo", source="Orphanet:100073"} @@ -299943,8 +299784,8 @@ synonym: "appendix well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C9 synonym: "NEN of appendix" EXACT [Orphanet:100079] synonym: "neuroendocrine neoplasm of appendix" RELATED [Orphanet:100079] synonym: "well-differentiated neuroendocrine tumor of the appendix" RELATED [ONCOTREE:AWDNET] -xref: ICD10CM:C18.1 {source="Orphanet:100079", source="ORDO:100079/ntbt"} -xref: ICD10CM:D37.3 {source="Orphanet:100079", source="ORDO:100079/ntbt"} +xref: ICD10CM:C18.1 {source="Orphanet:100079", source="Orphanet:100079/ntbt"} +xref: ICD10CM:D37.3 {source="Orphanet:100079", source="Orphanet:100079/ntbt"} xref: NCIT:C96422 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:AWDNET {source="MONDO:equivalentTo"} xref: Orphanet:100079 {source="MONDO:equivalentTo"} @@ -300079,7 +299920,7 @@ synonym: "neuroendocrine carcinoma of liver" EXACT [MONDO:design_pattern] synonym: "PHNEC" EXACT ABBREVIATION [MONDO:cjm] synonym: "primary hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787] synonym: "primary liver neuroendocrine carcinoma" EXACT [NCIT:C96787] -xref: ICD10CM:C22.7 {source="ORDO:100085/ntbt", source="Orphanet:100085"} +xref: ICD10CM:C22.7 {source="Orphanet:100085/ntbt", source="Orphanet:100085"} xref: NCIT:C96787 {source="MONDO:equivalentTo"} xref: Orphanet:100085 {source="MONDO:equivalentTo"} xref: SCTID:716652006 {source="MONDO:equivalentTo"} @@ -300098,7 +299939,7 @@ synonym: "gallbladder NET" EXACT [NCIT:C96918] synonym: "gallbladder neuroendocrine tumor" EXACT [NCIT:C96918] synonym: "gallbladder well differentiated endocrine tumor" EXACT [NCIT:C96918] synonym: "gallbladder well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96918] -xref: ICD10CM:C23 {source="ORDO:100086/ntbt", source="Orphanet:100086"} +xref: ICD10CM:C23 {source="Orphanet:100086/ntbt", source="Orphanet:100086"} xref: NCIT:C96918 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:100086 {source="MONDO:equivalentTo"} xref: UMLS:C3273116 {source="MONDO:equivalentTo", source="NCIT:C96918"} @@ -300169,12 +300010,12 @@ xref: DOID:3963 {source="MONDO:equivalentTo"} xref: EFO:0002892 {source="DOID:3963"} xref: EFO:1000586 {source="MONDO:equivalentTo"} xref: HP:0002890 {source="MONDO:otherHierarchy"} -xref: MedDRA:10007476 {source="Orphanet:100088", source="ORDO:100088/e"} +xref: MedDRA:10007476 {source="Orphanet:100088", source="Orphanet:100088/e"} xref: MESH:D013964 {source="DOID:3963"} xref: NCIT:C4815 {source="EFO:1000586", source="MONDO:equivalentTo", source="DOID:3963"} xref: Orphanet:100088 {source="MONDO:equivalentTo"} xref: SCTID:448216007 {source="MONDO:equivalentTo"} -xref: UMLS:C0549473 {source="Orphanet:100088", source="NCIT:C4815", source="ORDO:100088/e", source="MONDO:equivalentTo", source="DOID:3963"} +xref: UMLS:C0549473 {source="Orphanet:100088", source="NCIT:C4815", source="MONDO:equivalentTo", source="Orphanet:100088/e", source="DOID:3963"} is_a: MONDO:0002108 {source="DOID:3963", source="MONDO:Redundant", source="NCIT:C4815", source="linkedlifedata"} ! thyroid cancer is_a: MONDO:0004993 {source="DOID:3963", source="EFO:1000586", source="MONDO:Redundant", source="NCIT:C4815/inferred", source="linkedlifedata"} ! carcinoma is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C4815/inferred", source="Orphanet:100088", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroid tumor @@ -300193,9 +300034,9 @@ xref: Orphanet:100090 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0021360 -consider: ICD10CM:C75.0 {source="ORDO:100090/btnt", source="Orphanet:100090"} -consider: ICD10CM:D35.1 {source="MONDO:relatedTo", source="ORDO:100090/btnt", source="Orphanet:100090"} -consider: ICD10CM:D44.2 {source="ORDO:100090/btnt", source="Orphanet:100090"} +consider: ICD10CM:C75.0 {source="Orphanet:100090", source="Orphanet:100090/btnt"} +consider: ICD10CM:D35.1 {source="MONDO:relatedTo", source="Orphanet:100090", source="Orphanet:100090/btnt"} +consider: ICD10CM:D44.2 {source="Orphanet:100090", source="Orphanet:100090/btnt"} consider: UMLS:C0030521 {source="Orphanet:100090"} [Term] @@ -300221,7 +300062,7 @@ name: multiple polyglandular tumor comment: Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100094"} -xref: ICD10CM:D44.8 {source="MONDO:equivalentTo", source="ORDO:100094/e", source="ORDO:100094/specific", source="Orphanet:100094"} +xref: ICD10CM:D44.8 {source="Orphanet:100094/specific", source="Orphanet:100094/e", source="MONDO:equivalentTo", source="Orphanet:100094"} xref: Orphanet:100094 {source="MONDO:equivalentTo"} xref: UMLS:C0027662 {source="MONDO:superClassOf", source="Orphanet:100094"} xref: UMLS:CN197373 {source="MONDO:equivalentTo"} @@ -300282,8 +300123,8 @@ name: bathing suit ichthyosis def: "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." [Orphanet:100976] subset: ordo_disease {source="Orphanet:100976"} synonym: "BSI" EXACT ABBREVIATION [Orphanet:100976] -xref: ICD10CM:Q80.2 {source="ORDO:100976/attributed", source="ORDO:100976/ntbt", source="Orphanet:100976"} -xref: OMIM:242300 {source="MONDO:subClassOf", source="ORDO:100976/ntbt", source="Orphanet:100976", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q80.2 {source="Orphanet:100976", source="Orphanet:100976/attributed", source="Orphanet:100976/ntbt"} +xref: OMIM:242300 {source="MONDO:subClassOf", source="Orphanet:100976", source="MONDO:directSiblingOf", source="Orphanet:100976/ntbt"} xref: Orphanet:100976 {source="MONDO:equivalentTo"} xref: SCTID:725588002 {source="MONDO:equivalentTo"} xref: UMLS:C4511230 {source="MONDO:equivalentTo"} @@ -300299,7 +300140,7 @@ synonym: "Benallegue Lacete syndrome" RELATED [GARD:0000853] synonym: "Benallegue-Lacete syndrome" EXACT [Orphanet:100978] synonym: "cloverleaf skull and asphyxiating thoracic dysplasia" RELATED [GARD:0000853] xref: GARD:0000853 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:100978/attributed", source="ORDO:100978/ntbt", source="Orphanet:100978"} +xref: ICD10CM:Q87.5 {source="Orphanet:100978", source="Orphanet:100978/attributed", source="Orphanet:100978/ntbt"} xref: Orphanet:100978 {source="GARD:0000853", source="MONDO:equivalentTo"} xref: UMLS:CN197384 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:100978"} ! syndromic craniosynostosis @@ -300318,7 +300159,7 @@ synonym: "autosomal dominant complicated HSP" EXACT [Orphanet:100979] synonym: "autosomal dominant complicated spastic paraplegia" EXACT [Orphanet:100979] synonym: "autosomal dominant complicated SPG" EXACT [Orphanet:100979] synonym: "complex hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:100979/attributed", source="ORDO:100979/ntbt", source="Orphanet:100979"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100979/attributed", source="Orphanet:100979/ntbt", source="Orphanet:100979"} xref: Orphanet:100979 {source="MONDO:equivalentTo"} xref: UMLS:CN226593 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="MONDO:Redundant", source="Orphanet:100979"} ! complex hereditary spastic paraplegia @@ -300338,7 +300179,7 @@ synonym: "autosomal dominant uncomplicated HSP" EXACT [Orphanet:100980] synonym: "autosomal dominant uncomplicated spastic paraplegia" EXACT [Orphanet:100980] synonym: "autosomal dominant uncomplicated SPG" EXACT [Orphanet:100980] synonym: "pure hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100980", source="ORDO:100980/attributed", source="ORDO:100980/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100980/attributed", source="Orphanet:100980/ntbt", source="Orphanet:100980"} xref: Orphanet:100980 {source="MONDO:equivalentTo"} xref: UMLS:CN226594 {source="MONDO:equivalentTo"} is_a: MONDO:0015149 {source="MONDO:Redundant", source="Orphanet:100980"} ! pure hereditary spastic paraplegia @@ -300358,7 +300199,7 @@ synonym: "autosomal recessive complicated HSP" EXACT [Orphanet:100981] synonym: "autosomal recessive complicated spastic paraplegia" EXACT [Orphanet:100981] synonym: "autosomal recessive complicated SPG" EXACT [Orphanet:100981] synonym: "complex hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100981", source="ORDO:100981/attributed", source="ORDO:100981/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100981", source="Orphanet:100981/attributed", source="Orphanet:100981/ntbt"} xref: Orphanet:100981 {source="MONDO:equivalentTo"} xref: UMLS:CN228909 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="MONDO:Redundant", source="Orphanet:100981"} ! complex hereditary spastic paraplegia @@ -300378,7 +300219,7 @@ synonym: "autosomal recessive uncomplicated HSP" EXACT [Orphanet:100982] synonym: "autosomal recessive uncomplicated spastic paraplegia" EXACT [Orphanet:100982] synonym: "autosomal recessive uncomplicated SPG" EXACT [Orphanet:100982] synonym: "pure hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100982", source="ORDO:100982/attributed", source="ORDO:100982/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100982/attributed", source="Orphanet:100982/ntbt", source="Orphanet:100982"} xref: Orphanet:100982 {source="MONDO:equivalentTo"} xref: UMLS:CN228910 {source="MONDO:equivalentTo"} is_a: MONDO:0015149 {source="MONDO:Redundant", source="Orphanet:100982"} ! pure hereditary spastic paraplegia @@ -300400,11 +300241,11 @@ synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndro synonym: "spastic paraplegia 9" RELATED [GARD:0009583] synonym: "SPG9" EXACT ABBREVIATION [Orphanet:100990] xref: GARD:0009583 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100990", source="ORDO:100990/attributed", source="ORDO:100990/ntbt"} -xref: MESH:C536868 {source="Orphanet:100990", source="ORDO:100990/e", source="MONDO:superClassOf"} -xref: OMIM:601162 {source="Orphanet:100990", source="MONDO:superClassOf", source="ORDO:100990/btnt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:100990", source="Orphanet:100990/attributed", source="Orphanet:100990/ntbt"} +xref: MESH:C536868 {source="Orphanet:100990", source="Orphanet:100990/e", source="MONDO:superClassOf"} +xref: OMIM:601162 {source="Orphanet:100990", source="Orphanet:100990/btnt", source="MONDO:superClassOf"} xref: Orphanet:100990 {source="MONDO:equivalentTo"} -xref: UMLS:C1832669 {source="Orphanet:100990", source="ORDO:100990/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1832669 {source="Orphanet:100990", source="Orphanet:100990/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015087 {source="MONDO:Redundant", source="Orphanet:100990"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency intersection_of: MONDO:0015087 ! autosomal dominant complex spastic paraplegia @@ -300414,7 +300255,7 @@ intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc id: MONDO:0015092 name: cleft hard palate subset: ordo_morphological_anomaly {source="Orphanet:101023"} -xref: ICD10CM:Q35.1 {source="Orphanet:101023", source="ORDO:101023/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q35.1 {source="Orphanet:101023", source="MONDO:equivalentTo", source="Orphanet:101023/e"} xref: Orphanet:101023 {source="MONDO:equivalentTo"} xref: SCTID:448915004 {source="MONDO:equivalentTo"} is_a: MONDO:0016064 {source="Orphanet:101023"} ! cleft palate @@ -300423,7 +300264,7 @@ is_a: MONDO:0016064 {source="Orphanet:101023"} ! cleft palate id: MONDO:0015093 name: sub-cortical nodular heterotopia subset: ordo_clinical_subtype {source="Orphanet:101029"} -xref: ICD10CM:Q04.8 {source="ORDO:101029/attributed", source="ORDO:101029/ntbt", source="Orphanet:101029"} +xref: ICD10CM:Q04.8 {source="Orphanet:101029", source="Orphanet:101029/attributed", source="Orphanet:101029/ntbt"} xref: Orphanet:101029 {source="MONDO:equivalentTo"} is_a: MONDO:0016292 {source="Orphanet:101029"} ! nodular neuronal heterotopia @@ -300433,12 +300274,12 @@ name: subependymal nodular heterotopia subset: gard_rare {source="GARD:0005050"} subset: ordo_clinical_subtype {source="Orphanet:101030"} xref: GARD:0005050 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="Orphanet:101030", source="ORDO:101030/attributed", source="ORDO:101030/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:101030/attributed", source="Orphanet:101030/ntbt", source="Orphanet:101030"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071150 {source="Orphanet:101030", source="ORDO:101030/e"} +xref: MedDRA:10071150 {source="Orphanet:101030/e", source="Orphanet:101030"} xref: Orphanet:101030 {source="MONDO:equivalentTo"} xref: SCTID:699812002 {source="MONDO:equivalentTo"} -xref: UMLS:C3160906 {source="MONDO:equivalentTo", source="Orphanet:101030", source="ORDO:101030/e"} +xref: UMLS:C3160906 {source="Orphanet:101030/e", source="MONDO:equivalentTo", source="Orphanet:101030"} is_a: MONDO:0016292 {source="Orphanet:101030", source="linkedlifedata"} ! nodular neuronal heterotopia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia xsd:anyURI {source="GARD:0005050"} @@ -300446,10 +300287,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5050/subepend id: MONDO:0015095 name: Peters anomaly-cataract syndrome subset: ordo_clinical_subtype {source="Orphanet:101033"} -xref: ICD10CM:Q13.3 {source="Orphanet:101033", source="ORDO:101033/attributed", source="ORDO:101033/ntbt"} -xref: MESH:C537885 {source="Orphanet:101033", source="MONDO:equivalentTo", source="ORDO:101033/e"} +xref: ICD10CM:Q13.3 {source="Orphanet:101033", source="Orphanet:101033/attributed", source="Orphanet:101033/ntbt"} +xref: MESH:C537885 {source="Orphanet:101033", source="MONDO:equivalentTo", source="Orphanet:101033/e"} xref: Orphanet:101033 {source="MONDO:equivalentTo"} -xref: UMLS:C2931652 {source="Orphanet:101033", source="MONDO:equivalentTo", source="ORDO:101033/e"} +xref: UMLS:C2931652 {source="Orphanet:101033", source="MONDO:equivalentTo", source="Orphanet:101033/e"} is_a: MONDO:0011414 {source="Orphanet:101033"} ! Peters anomaly [Term] @@ -300460,8 +300301,8 @@ subset: gard_rare {source="GARD:0002887"} subset: ordo_clinical_subtype {source="Orphanet:101041"} synonym: "hypofibrinogenemia, familial" RELATED [GARD:0002887] xref: GARD:0002887 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="Orphanet:101041", source="ORDO:101041/attributed", source="ORDO:101041/ntbt"} -xref: OMIM:202400 {source="MONDO:subClassOf", source="Orphanet:101041", source="ORDO:101041/ntbt"} +xref: ICD10CM:D68.2 {source="Orphanet:101041/attributed", source="Orphanet:101041/ntbt", source="Orphanet:101041"} +xref: OMIM:202400 {source="MONDO:subClassOf", source="Orphanet:101041/ntbt", source="Orphanet:101041"} xref: Orphanet:101041 {source="MONDO:equivalentTo"} xref: UMLS:C2584774 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:101041"} xref: UMLS:CN197419 {source="MONDO:equivalentTo"} @@ -300473,11 +300314,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2887/hypofibr id: MONDO:0015097 name: aortic valve dysplasia subset: ordo_clinical_subtype {source="Orphanet:101043"} -xref: ICD10CM:Q23.0 {source="ORDO:101043/ntbt", source="Orphanet:101043"} +xref: ICD10CM:Q23.0 {source="Orphanet:101043/ntbt", source="Orphanet:101043"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:101043 {source="MONDO:equivalentTo"} xref: SCTID:253604004 {source="MONDO:equivalentTo"} -xref: UMLS:C0344993 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:101043", source="ORDO:101043/e"} +xref: UMLS:C0344993 {source="Orphanet:101043/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:101043"} is_a: MONDO:0017735 {source="Orphanet:101043"} ! congenital aortic valve stenosis [Term] @@ -300492,7 +300333,7 @@ replaced_by: MONDO:0010029 id: MONDO:0015099 name: unilateral hemispheric polymicrogyria subset: ordo_clinical_subtype {source="Orphanet:101071"} -xref: ICD10CM:Q04.3 {source="ORDO:101071/attributed", source="ORDO:101071/ntbt", source="Orphanet:101071"} +xref: ICD10CM:Q04.3 {source="Orphanet:101071/attributed", source="Orphanet:101071/ntbt", source="Orphanet:101071"} xref: Orphanet:101071 {source="MONDO:equivalentTo"} is_a: MONDO:0017092 {source="Orphanet:101071"} ! unilateral polymicrogyria @@ -300500,18 +300341,18 @@ is_a: MONDO:0017092 {source="Orphanet:101071"} ! unilateral polymicrogyria id: MONDO:0015100 name: aregenerative anemia subset: ordo_disease {source="Orphanet:101096"} -xref: MedDRA:10054329 {source="Orphanet:101096", source="ORDO:101096/e"} +xref: MedDRA:10054329 {source="Orphanet:101096/e", source="Orphanet:101096"} xref: Orphanet:101096 {source="MONDO:equivalentTo"} xref: SCTID:89112009 {source="MONDO:equivalentTo"} xref: UMLS:C0002893 {source="Orphanet:101096", source="MONDO:directSiblingOf"} -xref: UMLS:C0553669 {source="MONDO:equivalentTo", source="Orphanet:101096", source="ORDO:101096/e"} +xref: UMLS:C0553669 {source="Orphanet:101096/e", source="MONDO:equivalentTo", source="Orphanet:101096"} is_a: MONDO:0019453 {source="Orphanet:101096"} ! refractory cytopenia with multilineage dysplasia [Term] id: MONDO:0015101 name: Marin-Amat syndrome subset: ordo_clinical_subtype {source="Orphanet:101104"} -xref: ICD10CM:Q07.8 {source="Orphanet:101104", source="ORDO:101104/attributed", source="ORDO:101104/ntbt"} +xref: ICD10CM:Q07.8 {source="Orphanet:101104/attributed", source="Orphanet:101104/ntbt", source="Orphanet:101104"} xref: Orphanet:101104 {source="MONDO:equivalentTo"} xref: UMLS:CN197448 {source="MONDO:equivalentTo"} is_a: MONDO:0007946 {source="Orphanet:101104"} ! jaw-winking syndrome @@ -300534,7 +300375,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:101206"} synonym: "absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome" EXACT [Orphanet:101206] synonym: "APV/ADA, Fallot type" EXACT [Orphanet:101206] synonym: "PVA/ADA, Fallot type" EXACT [Orphanet:101206] -xref: ICD10CM:Q22.2 {source="ORDO:101206/ntbt", source="Orphanet:101206"} +xref: ICD10CM:Q22.2 {source="Orphanet:101206", source="Orphanet:101206/ntbt"} xref: Orphanet:101206 {source="MONDO:equivalentTo"} xref: UMLS:CN197455 {source="MONDO:equivalentTo"} is_a: MONDO:0020064 {source="Orphanet:101206"} ! pulmonary valve agenesis @@ -300549,16 +300390,16 @@ synonym: "PCT" EXACT ABBREVIATION [Orphanet:101330] synonym: "porphyria cutania tarda" RELATED [ONCOTREE:PCT] xref: DOID:3132 {source="MONDO:equivalentTo"} xref: GARD:0007433 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E80.1 {source="DOID:3132", source="Orphanet:101330", source="ORDO:101330/specific", source="ORDO:101330/e"} -xref: MedDRA:10036183 {source="Orphanet:101330", source="ORDO:101330/e"} -xref: MESH:D017119 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="ORDO:101330/e"} +xref: ICD10CM:E80.1 {source="DOID:3132", source="Orphanet:101330", source="Orphanet:101330/e", source="Orphanet:101330/specific"} +xref: MedDRA:10036183 {source="Orphanet:101330", source="Orphanet:101330/e"} +xref: MESH:D017119 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="Orphanet:101330/e"} xref: NCIT:C27725 {source="DOID:3132", source="MONDO:equivalentTo"} -xref: OMIM:176090 {source="DOID:3132", source="Orphanet:101330", source="MONDO:superClassOf", source="ORDO:101330/btnt"} -xref: OMIM:176100 {source="DOID:3132", source="Orphanet:101330", source="MONDO:superClassOf", source="ORDO:101330/btnt"} +xref: OMIM:176090 {source="DOID:3132", source="Orphanet:101330", source="Orphanet:101330/btnt", source="MONDO:superClassOf"} +xref: OMIM:176100 {source="DOID:3132", source="Orphanet:101330", source="Orphanet:101330/btnt", source="MONDO:superClassOf"} xref: ONCOTREE:PCT {source="MONDO:equivalentTo"} xref: Orphanet:101330 {source="DOID:3132", source="MONDO:equivalentTo"} xref: SCTID:61860000 {source="DOID:3132", source="MONDO:equivalentTo"} -xref: UMLS:C0162566 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="NCIT:C27725", source="ORDO:101330/e"} +xref: UMLS:C0162566 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="Orphanet:101330/e", source="NCIT:C27725"} is_a: MONDO:0002406 {source="DOID:3132", source="NCIT:C27725"} ! dermatitis is_a: MONDO:0002520 {source="DOID:3132", source="MESH:D017119", source="indirect", source="linkedlifedata"} ! hepatic porphyria is_a: MONDO:0019800 {source="Orphanet:101330"} ! chronic hepatic porphyria @@ -300620,7 +300461,7 @@ replaced_by: MONDO:0000509 id: MONDO:0015109 name: congenital anomaly of the mitral subvalvular apparatus subset: ordo_morphological_anomaly {source="Orphanet:101932"} -xref: ICD10CM:Q23.8 {source="ORDO:101932/ntbt", source="Orphanet:101932"} +xref: ICD10CM:Q23.8 {source="Orphanet:101932", source="Orphanet:101932/ntbt"} xref: Orphanet:101932 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:101932"} ! congenital mitral valve insufficiency and/or stenosis relationship: disease_has_location UBERON:0002135 ! mitral valve @@ -300697,11 +300538,11 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:101940"} xref: Orphanet:101940 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0851734 {source="MONDO:obsoleteEquivalent", source="Orphanet:101940", source="ORDO:101940/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0851734 {source="MONDO:obsoleteEquivalent", source="Orphanet:101940", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:101940/e"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0005066 -consider: MedDRA:10019689 {source="Orphanet:101940", source="ORDO:101940/e"} +consider: MedDRA:10019689 {source="Orphanet:101940", source="Orphanet:101940/e"} [Term] id: MONDO:0015116 @@ -300813,15 +300654,15 @@ xref: Orphanet:101953 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0002525 -consider: ICD10CM:E78.0 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.1 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.2 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.3 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.4 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.5 {source="MONDO:relatedTo", source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.6 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.8 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} -consider: ICD10CM:E78.9 {source="ORDO:101953/btnt", source="Orphanet:101953", source="ORDO:101953/specific"} +consider: ICD10CM:E78.0 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.1 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.2 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.3 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.4 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.5 {source="MONDO:relatedTo", source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.6 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.8 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} +consider: ICD10CM:E78.9 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} consider: UMLS:C0242339 {source="Orphanet:101953"} [Term] @@ -300856,10 +300697,10 @@ id: MONDO:0015126 name: polyendocrinopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101956"} -xref: ICD10CM:E31.0 {source="ORDO:101956/btnt", source="MONDO:superClassOf", source="Orphanet:101956"} -xref: ICD10CM:E31.1 {source="ORDO:101956/btnt", source="Orphanet:101956"} -xref: ICD10CM:E31.8 {source="ORDO:101956/btnt", source="Orphanet:101956"} -xref: ICD10CM:E31.9 {source="ORDO:101956/btnt", source="Orphanet:101956"} +xref: ICD10CM:E31.0 {source="MONDO:superClassOf", source="Orphanet:101956/btnt", source="Orphanet:101956"} +xref: ICD10CM:E31.1 {source="Orphanet:101956/btnt", source="Orphanet:101956"} +xref: ICD10CM:E31.8 {source="Orphanet:101956/btnt", source="Orphanet:101956"} +xref: ICD10CM:E31.9 {source="Orphanet:101956/btnt", source="Orphanet:101956"} xref: Orphanet:101956 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="Orphanet:101956"} ! endocrine system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020005"} ! rare @@ -300870,7 +300711,7 @@ name: pituitary deficiency comment: Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101957"} -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="ORDO:101957/specific", source="Orphanet:101957", source="ORDO:101957/e"} +xref: ICD10CM:E23.0 {source="Orphanet:101957/e", source="MONDO:relatedTo", source="Orphanet:101957/specific", source="Orphanet:101957"} xref: Orphanet:101957 {source="MONDO:equivalentTo"} xref: UMLS:C0020635 {source="MONDO:relatedTo", source="Orphanet:101957"} is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder @@ -300882,7 +300723,7 @@ name: primary adrenal insufficiency def: "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." [NCIT:C113172] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101958"} -xref: MedDRA:10052381 {source="ORDO:101958/e", source="Orphanet:101958"} +xref: MedDRA:10052381 {source="Orphanet:101958/e", source="Orphanet:101958"} xref: NCIT:C113172 {source="MONDO:equivalentTo"} xref: Orphanet:101958 {source="MONDO:equivalentTo"} xref: UMLS:C3887896 {source="NCIT:C113172", source="MONDO:equivalentTo"} @@ -300916,14 +300757,14 @@ synonym: "primary adrenocortical insufficiency" EXACT [DOID:13774] synonym: "primary hypoadrenalism" EXACT [DOID:13774, NCIT:C26689] xref: DOID:13774 {source="MONDO:equivalentTo"} xref: GARD:0005740 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E27.1 {source="Orphanet:85138", source="ORDO:85138/ntbt", source="DOID:13774"} +xref: ICD10CM:E27.1 {source="Orphanet:85138/ntbt", source="Orphanet:85138", source="DOID:13774"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10001130 {source="ORDO:85138/e", source="Orphanet:85138"} -xref: MESH:D000224 {source="ORDO:85138/e", source="Orphanet:85138", source="DOID:13774"} +xref: MedDRA:10001130 {source="Orphanet:85138", source="Orphanet:85138/e"} +xref: MESH:D000224 {source="Orphanet:85138", source="Orphanet:85138/e", source="DOID:13774"} xref: NCIT:C113814 {source="MONDO:superClassOf"} xref: NCIT:C26689 {source="MONDO:equivalentTo", source="DOID:13774"} -xref: OMIM:103230 {source="Orphanet:85138", source="MONDO:superClassOf", source="ORDO:85138/btnt", source="DOID:13774"} -xref: OMIM:240200 {source="ORDO:85138/e", source="Orphanet:85138", source="MONDO:equivalentTo", source="DOID:13774"} +xref: OMIM:103230 {source="Orphanet:85138/btnt", source="Orphanet:85138", source="MONDO:superClassOf", source="DOID:13774"} +xref: OMIM:240200 {source="Orphanet:85138", source="MONDO:equivalentTo", source="Orphanet:85138/e", source="DOID:13774"} xref: Orphanet:101959 {source="MONDO:equivalentTo"} xref: Orphanet:85138 {source="MONDO:superClassOf", source="OMIM:240200"} xref: SCTID:111562000 {source="DOID:13774"} @@ -300933,9 +300774,9 @@ xref: SCTID:363732003 {source="DOID:13774"} xref: SCTID:367376006 {source="DOID:13774"} xref: SCTID:373662000 {source="MONDO:equivalentTo", source="DOID:13774"} xref: SCTID:68588005 {source="DOID:13774"} -xref: UMLS:C0001403 {source="ORDO:85138/e", source="Orphanet:85138", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C26689", source="DOID:13774", source="Orphanet:101959"} +xref: UMLS:C0001403 {source="Orphanet:85138", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C26689", source="Orphanet:85138/e", source="DOID:13774", source="Orphanet:101959"} xref: UMLS:C0266273 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:240200"} -xref: UMLS:C0271737 {source="NCIT:C113814", source="ORDO:85138/e", source="Orphanet:85138", source="MONDO:equivalentTo"} +xref: UMLS:C0271737 {source="NCIT:C113814", source="Orphanet:85138", source="MONDO:equivalentTo", source="Orphanet:85138/e"} xref: UMLS:C1868690 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:240200"} is_a: MONDO:0000004 {source="DC-OMIM:240200", source="DOID:13774", source="MONDO:Redundant", source="NCIT:C113814/inferred", source="linkedlifedata"} ! adrenocortical insufficiency is_a: MONDO:0015128 {source="MONDO:Redundant", source="NCIT:C26689", source="Orphanet:101959"} ! primary adrenal insufficiency @@ -300970,16 +300811,16 @@ synonym: "congenital combined immunodeficiency" EXACT [DOID:628, NCIT:C27871] synonym: "X-linked combined immunodeficiency" NARROW [DOID:628] xref: DOID:628 {source="MONDO:equivalentTo"} xref: ICD10CM:D81 {source="DOID:628"} -xref: ICD10CM:D81.0 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.1 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.2 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.3 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.4 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.5 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.6 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.7 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.8 {source="ORDO:101972/specific", source="Orphanet:101972", source="ORDO:101972/btnt"} -xref: ICD10CM:D81.9 {source="ORDO:101972/specific", source="Orphanet:101972", source="DOID:628", source="ORDO:101972/btnt"} +xref: ICD10CM:D81.0 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.1 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.2 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.3 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.4 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.5 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.6 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.7 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.8 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"} +xref: ICD10CM:D81.9 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="DOID:628", source="Orphanet:101972/specific"} xref: ICD9:279.2 {source="DOID:628"} xref: NCIT:C27871 {source="NCIT:C27871", source="DOID:628", source="MONDO:equivalentTo"} xref: OMIM:312863 {source="DOID:628", source="MONDO:superClassOf"} @@ -300995,16 +300836,16 @@ id: MONDO:0015132 name: immunodeficiency predominantly affecting antibody production subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101977"} -xref: ICD10CM:D80.0 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.1 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.2 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.3 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.4 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.5 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.6 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.7 {source="ORDO:101977/btnt", source="MONDO:superClassOf", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.8 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} -xref: ICD10CM:D80.9 {source="ORDO:101977/btnt", source="Orphanet:101977", source="ORDO:101977/specific"} +xref: ICD10CM:D80.0 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.1 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.2 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.3 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.4 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.5 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.6 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.7 {source="MONDO:superClassOf", source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.8 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} +xref: ICD10CM:D80.9 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} xref: Orphanet:101977 {source="MONDO:equivalentTo"} is_a: MONDO:0015823 {source="Orphanet:101977"} ! primary immunodeficiency due to a defect in adaptive immunity @@ -301032,7 +300873,7 @@ synonym: "infantile genetic agranulocytosis" EXACT [NCIT:C61242] synonym: "Kostmann disease" EXACT [NCIT:C61242] synonym: "Kostmann neutropenia" EXACT [NCIT:C61242] synonym: "Kostmann syndrome" EXACT [NCIT:C61242] -xref: ICD10CM:D70 {source="MONDO:relatedTo", source="ORDO:101987/attributed", source="ORDO:101987/ntbt", source="Orphanet:101987"} +xref: ICD10CM:D70 {source="MONDO:relatedTo", source="Orphanet:101987", source="Orphanet:101987/attributed", source="Orphanet:101987/ntbt"} xref: NCIT:C61242 {source="MONDO:equivalentTo"} xref: Orphanet:101987 {source="MONDO:equivalentTo"} xref: UMLS:C0340970 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C61242"} @@ -301058,7 +300899,7 @@ name: obsolete immunodeficiency due to a genetic complement cascade protein anom comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:101992"} synonym: "immunodeficiency due to a complement cascade protein anomaly" RELATED [Orphanet:101992] -xref: ICD10CM:D84.1 {source="ORDO:101992/e", source="Orphanet:101992", source="ORDO:101992/specific"} +xref: ICD10CM:D84.1 {source="Orphanet:101992", source="Orphanet:101992/e", source="Orphanet:101992/specific"} xref: Orphanet:101992 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -301071,11 +300912,11 @@ name: periodic fever syndrome def: "Fevers of unknown etiology recurring over months or years." [NCIT:C118240] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101995"} -xref: ICD10CM:E85.0 {source="Orphanet:101995", source="ORDO:101995/ntbt"} -xref: MedDRA:10034533 {source="Orphanet:101995", source="ORDO:101995/e"} +xref: ICD10CM:E85.0 {source="Orphanet:101995/ntbt", source="Orphanet:101995"} +xref: MedDRA:10034533 {source="Orphanet:101995", source="Orphanet:101995/e"} xref: NCIT:C118240 {source="MONDO:equivalentTo"} xref: Orphanet:101995 {source="MONDO:equivalentTo"} -xref: UMLS:C0015974 {source="Orphanet:101995", source="ORDO:101995/e", source="MONDO:equivalentTo"} +xref: UMLS:C0015974 {source="Orphanet:101995", source="MONDO:equivalentTo", source="Orphanet:101995/e"} xref: UMLS:C3889979 {source="MONDO:equivalentTo", source="NCIT:C118240"} is_a: MONDO:0002254 {source="NCIT:C118240", source="indirect"} ! syndromic disease is_a: MONDO:0019751 {source="Orphanet:101995"} ! autoinflammatory syndrome @@ -301093,7 +300934,7 @@ xref: UMLS:C0398686 {source="MONDO:obsoleteEquivalent", source="Orphanet:101997" property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0003778 -consider: MedDRA:10064859 {source="Orphanet:101997", source="ORDO:101997/e"} +consider: MedDRA:10064859 {source="Orphanet:101997", source="Orphanet:101997/e"} [Term] id: MONDO:0015139 @@ -301108,16 +300949,16 @@ xref: UMLS:CN244924 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundIn property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0005027 -consider: ICD10CM:G40.0 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.1 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.2 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.3 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.4 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.5 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.6 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.7 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.8 {source="ORDO:101998/ntbt", source="Orphanet:101998"} -consider: ICD10CM:G40.9 {source="ORDO:101998/ntbt", source="Orphanet:101998"} +consider: ICD10CM:G40.0 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.1 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.2 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.3 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.4 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.5 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.6 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.7 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.8 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} +consider: ICD10CM:G40.9 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} consider: UMLS:C0014544 {source="Orphanet:101998"} [Term] @@ -301131,22 +300972,22 @@ synonym: "early-onset familial autosomal dominant Alzheimer disease" EXACT [GARD synonym: "early-onset, autosomal dominant Alzheimer disease" RELATED [GARD:0012798] synonym: "EOFAD" EXACT ABBREVIATION [GARD:0012798, https://www.ncbi.nlm.nih.gov/books/NBK1236/, Orphanet:1020] xref: GARD:0012798 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G30.0 {source="ORDO:1020/attributed", source="ORDO:1020/ntbt", source="Orphanet:1020"} -xref: OMIM:104300 {source="GARD:0000632", source="MONDO:superClassOf", source="ORDO:1020/ntbt", source="Orphanet:1020"} -xref: OMIM:104310 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:602096 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:605055 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:605526 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:606187 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:606889 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:607116 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:607822 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:609636 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:609790 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:611073 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:611152 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:611154 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} -xref: OMIM:611155 {source="MONDO:superClassOf", source="ORDO:1020/btnt", source="Orphanet:1020"} +xref: ICD10CM:G30.0 {source="Orphanet:1020/attributed", source="Orphanet:1020/ntbt", source="Orphanet:1020"} +xref: OMIM:104300 {source="GARD:0000632", source="MONDO:superClassOf", source="Orphanet:1020/ntbt", source="Orphanet:1020"} +xref: OMIM:104310 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:602096 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:605055 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:605526 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:606187 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:606889 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:607116 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:607822 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:609636 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:609790 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:611073 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:611152 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:611154 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} +xref: OMIM:611155 {source="MONDO:superClassOf", source="Orphanet:1020/btnt", source="Orphanet:1020"} xref: Orphanet:1020 {source="MONDO:equivalentTo"} xref: UMLS:C0276496 {source="GARD:0000632", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1020"} xref: UMLS:CN043596 {source="MONDO:equivalentTo"} @@ -301232,10 +301073,10 @@ synonym: "lissencephaly classic" RELATED [GARD:0005049] synonym: "lissencephaly sequence isolated" RELATED [GARD:0005049] synonym: "lissencephaly type 1" EXACT [Orphanet:102009] xref: GARD:0005049 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="ORDO:102009/ntbt", source="Orphanet:102009", source="ORDO:102009/inclusion"} +xref: ICD10CM:Q04.3 {source="Orphanet:102009/inclusion", source="Orphanet:102009", source="Orphanet:102009/ntbt"} xref: Orphanet:102009 {source="MONDO:equivalentTo"} -xref: UMLS:C0431375 {source="ORDO:102009/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102009"} -xref: UMLS:C1843916 {source="ORDO:102009/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102009"} +xref: UMLS:C0431375 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102009", source="Orphanet:102009/e"} +xref: UMLS:C1843916 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102009", source="Orphanet:102009/e"} is_a: MONDO:0018838 {source="Orphanet:102009"} ! lissencephaly spectrum disorders property_value: confidence "0.7645614035087713" xsd:double @@ -301252,14 +301093,14 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q04.3 {source="ORDO:102010/attributed", source="ORDO:102010/ntbt", source="Orphanet:102010"} +consider: ICD10CM:Q04.3 {source="Orphanet:102010/attributed", source="Orphanet:102010/ntbt", source="Orphanet:102010"} [Term] id: MONDO:0015148 name: lissencephaly type 3 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102011"} -xref: ICD10CM:Q04.3 {source="ORDO:102011/inclusion", source="ORDO:102011/ntbt", source="Orphanet:102011"} +xref: ICD10CM:Q04.3 {source="Orphanet:102011/ntbt", source="Orphanet:102011/inclusion", source="Orphanet:102011"} xref: Orphanet:102011 {source="MONDO:equivalentTo"} xref: UMLS:C1969029 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102011"} is_a: MONDO:0018838 {source="Orphanet:102011"} ! lissencephaly spectrum disorders @@ -301276,10 +301117,10 @@ synonym: "uncomplicated familial spastic paraplegia" EXACT [Orphanet:102012] synonym: "uncomplicated hereditary spastic paraplegia" EXACT [Orphanet:102012] synonym: "uncomplicated HSP" EXACT [Orphanet:102012] synonym: "uncomplicated SPG" EXACT [Orphanet:102012] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:102012", source="ORDO:102012/attributed", source="ORDO:102012/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:102012", source="Orphanet:102012/attributed", source="Orphanet:102012/ntbt"} xref: Orphanet:102012 {source="MONDO:equivalentTo"} xref: SCTID:230260007 {source="MONDO:equivalentTo"} -xref: UMLS:C0393555 {source="Orphanet:102012", source="MONDO:equivalentTo", source="ORDO:102012/e"} +xref: UMLS:C0393555 {source="Orphanet:102012", source="MONDO:equivalentTo", source="Orphanet:102012/e"} is_a: MONDO:0019064 {source="Orphanet:102012", source="linkedlifedata"} ! hereditary spastic paraplegia [Term] @@ -301297,7 +301138,7 @@ synonym: "complicated HSP" EXACT [Orphanet:102013] synonym: "complicated SPG" EXACT [Orphanet:102013] synonym: "syndrome associated with hereditary spastic paraplegia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hereditary spastic paraplegia" EXACT [MONDO:patterns/syndromic] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:102013", source="ORDO:102013/attributed", source="ORDO:102013/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:102013", source="Orphanet:102013/attributed", source="Orphanet:102013/ntbt"} xref: Orphanet:102013 {source="MONDO:equivalentTo"} xref: SCTID:230261006 {source="MONDO:equivalentTo"} xref: UMLS:C0393556 {source="MONDO:equivalentTo"} @@ -301316,7 +301157,7 @@ synonym: "autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:patter synonym: "limb-girdle muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "muscular dystrophy, limb-girdle, autosomal dominant" EXACT CLINGEN_PREFERRED [OMIMPS:159000] xref: DOID:0110273 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:102014", source="DOID:0110273", source="ORDO:102014/attributed", source="ORDO:102014/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:102014/attributed", source="Orphanet:102014/ntbt", source="Orphanet:102014", source="DOID:0110273"} xref: OMIMPS:159000 {source="DOID:0110273", source="MONDO:nonExistent"} xref: OMIMPS:603511 {source="MONDO:equivalentTo"} xref: Orphanet:102014 {source="MONDO:equivalentTo", source="DOID:0110273"} @@ -301337,11 +301178,11 @@ synonym: "autosomal recessive limb-girdle muscular dystrophy" EXACT CLINGEN_PREF synonym: "limb-girdle muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "muscular dystrophy, limb-girdle, autosomal recessive" EXACT [OMIMPS:253600] xref: DOID:0110274 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:102015", source="ORDO:102015/attributed", source="ORDO:102015/ntbt", source="DOID:0110274"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:102015", source="Orphanet:102015/attributed", source="Orphanet:102015/ntbt", source="DOID:0110274"} xref: MESH:C538640 {source="MONDO:equivalentTo"} xref: OMIMPS:253600 {source="MONDO:equivalentTo", source="DOID:0110274"} xref: Orphanet:102015 {source="MONDO:equivalentTo", source="DOID:0110274"} -xref: UMLS:C2931907 {source="Orphanet:102015", source="ORDO:102015/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931907 {source="Orphanet:102015", source="MONDO:equivalentTo", source="Orphanet:102015/e"} is_a: MONDO:0016971 {source="DOID:0110274", source="MESH:C538640", source="MONDO:Redundant", source="Orphanet:102015"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0016971 ! limb-girdle muscular dystrophy intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -301354,15 +301195,15 @@ comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102020"} synonym: "autosomal deletion" EXACT [Orphanet:102020] -xref: ICD10CM:Q93.0 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.1 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.2 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.3 {source="MONDO:relatedTo", source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.4 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.5 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.7 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.8 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} -xref: ICD10CM:Q93.9 {source="ORDO:102020/specific", source="Orphanet:102020", source="ORDO:102020/btnt"} +xref: ICD10CM:Q93.0 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.1 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.2 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.3 {source="MONDO:relatedTo", source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.4 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.5 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.7 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.8 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} +xref: ICD10CM:Q93.9 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} xref: Orphanet:102020 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0026499 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102020"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 @@ -301405,7 +301246,7 @@ id: MONDO:0015158 name: unexplained periodic fever syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102237"} -xref: ICD10CM:E85.0 {source="Orphanet:102237", source="ORDO:102237/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:102237/ntbt", source="Orphanet:102237"} xref: Orphanet:102237 {source="MONDO:equivalentTo"} xref: UMLS:CN197498 {source="MONDO:equivalentTo"} is_a: MONDO:0015137 {source="Orphanet:102237"} ! periodic fever syndrome @@ -301491,7 +301332,7 @@ name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomer def: "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." [Orphanet:102381] subset: ordo_disease {source="Orphanet:102381"} synonym: "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" EXACT [Orphanet:102381] -xref: ICD10CM:C92.0 {source="ORDO:102381/ntbt", source="Orphanet:102381"} +xref: ICD10CM:C92.0 {source="Orphanet:102381", source="Orphanet:102381/ntbt"} xref: Orphanet:102381 {source="MONDO:equivalentTo"} xref: UMLS:CN197505 {source="MONDO:equivalentTo"} is_a: MONDO:0019457 {source="Orphanet:102381"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome @@ -301501,7 +301342,7 @@ id: MONDO:0015166 name: acute myeloid leukemia with t(8;21)(q22;q22) translocation subset: ordo_disease {source="Orphanet:102724"} synonym: "AML with t(8;21)(q22;q22) translocation" EXACT [Orphanet:102724] -xref: ICD10CM:C92.0 {source="ORDO:102724/ntbt", source="Orphanet:102724"} +xref: ICD10CM:C92.0 {source="Orphanet:102724", source="Orphanet:102724/ntbt"} xref: Orphanet:102724 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:102724"} ! acute myeloid leukemia @@ -301520,12 +301361,12 @@ synonym: "congenital constricting bands" RELATED [GARD:0000429] synonym: "deformity due to amniotic band" EXACT [NCIT:C84552] synonym: "familial amniotic bands" RELATED [GARD:0000429] xref: GARD:0000429 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q79.8 {source="Orphanet:1034", source="ORDO:1034/attributed", source="ORDO:1034/ntbt"} -xref: MESH:D000652 {source="ORDO:1034/e", source="Orphanet:1034", source="MONDO:equivalentTo"} +xref: ICD10CM:Q79.8 {source="Orphanet:1034/attributed", source="Orphanet:1034/ntbt", source="Orphanet:1034"} +xref: MESH:D000652 {source="Orphanet:1034", source="MONDO:equivalentTo", source="Orphanet:1034/e"} xref: NCIT:C84552 {source="MONDO:equivalentTo"} xref: Orphanet:1034 {source="MONDO:equivalentTo"} xref: SCTID:440214006 {source="MONDO:equivalentTo"} -xref: UMLS:C1527388 {source="ORDO:1034/e", source="Orphanet:1034", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1527388 {source="Orphanet:1034", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1034/e"} is_a: MONDO:0017421 {source="Orphanet:1034"} ! non-syndromic terminal limb defects [Term] @@ -301551,12 +301392,12 @@ synonym: "Otto syndrome" RELATED [GARD:0000777] synonym: "rocher-Sheldon syndrome" RELATED [GARD:0000777] synonym: "Rossi syndrome" RELATED [GARD:0000777] xref: GARD:0000777 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q74.3 {source="ORDO:1037/specific", source="Orphanet:1037", source="ORDO:1037/e"} -xref: MedDRA:10051643 {source="Orphanet:1037", source="ORDO:1037/e"} -xref: MESH:C536613 {source="Orphanet:1037", source="ORDO:1037/e"} +xref: ICD10CM:Q74.3 {source="Orphanet:1037", source="Orphanet:1037/e", source="Orphanet:1037/specific"} +xref: MedDRA:10051643 {source="Orphanet:1037", source="Orphanet:1037/e"} +xref: MESH:C536613 {source="Orphanet:1037", source="Orphanet:1037/e"} xref: OMIMPS:617468 {source="MONDO:equivalentTo"} xref: Orphanet:1037 {source="MONDO:equivalentTo"} -xref: UMLS:C2931264 {source="Orphanet:1037", source="ORDO:1037/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931264 {source="Orphanet:1037", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1037/e"} is_a: MONDO:0015225 {source="Orphanet:1037"} ! arthrogryposis syndrome relationship: has_modifier MONDO:0021152 {source="OMIMPS:617468"} ! inherited @@ -301568,7 +301409,7 @@ subset: ordo_disease {source="Orphanet:103907"} synonym: "chronic diarrhea due to glucoamylase deficiency" EXACT [] synonym: "maltase glucoamylase deficiency" RELATED [] synonym: "maltase-glucoamylase deficiency" EXACT [Orphanet:103907] -xref: ICD10CM:E74.3 {source="ORDO:103907/attributed", source="ORDO:103907/ntbt", source="Orphanet:103907"} +xref: ICD10CM:E74.3 {source="Orphanet:103907/attributed", source="Orphanet:103907/ntbt", source="Orphanet:103907"} xref: Orphanet:103907 {source="MONDO:equivalentTo"} xref: SCTID:716277000 {source="MONDO:equivalentTo"} xref: UMLS:C4275068 {source="MONDO:equivalentTo"} @@ -301583,9 +301424,9 @@ name: congenital sodium diarrhea def: "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis." [Orphanet:103908] subset: ordo_disease {source="Orphanet:103908"} synonym: "Na-H exchange deficiency" EXACT [Orphanet:103908] -xref: ICD10CM:P78.3 {source="ORDO:103908/attributed", source="ORDO:103908/ntbt", source="Orphanet:103908"} -xref: OMIM:270420 {source="MONDO:superClassOf", source="ORDO:103908/btnt", source="Orphanet:103908"} -xref: OMIM:616868 {source="MONDO:superClassOf", source="ORDO:103908/btnt", source="Orphanet:103908"} +xref: ICD10CM:P78.3 {source="Orphanet:103908/attributed", source="Orphanet:103908/ntbt", source="Orphanet:103908"} +xref: OMIM:270420 {source="MONDO:superClassOf", source="Orphanet:103908/btnt", source="Orphanet:103908"} +xref: OMIM:616868 {source="MONDO:superClassOf", source="Orphanet:103908/btnt", source="Orphanet:103908"} xref: Orphanet:103908 {source="MONDO:equivalentTo"} xref: SCTID:18805001 {source="MONDO:equivalentTo"} xref: UMLS:C0267663 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:103908"} @@ -301600,7 +301441,7 @@ id: MONDO:0015171 name: congenital enterocyte heparan sulfate deficiency def: "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." [Orphanet:103910] subset: ordo_disease {source="Orphanet:103910"} -xref: ICD10CM:P78.3 {source="ORDO:103910/attributed", source="ORDO:103910/ntbt", source="Orphanet:103910"} +xref: ICD10CM:P78.3 {source="Orphanet:103910", source="Orphanet:103910/attributed", source="Orphanet:103910/ntbt"} xref: Orphanet:103910 {source="MONDO:equivalentTo"} xref: SCTID:725591002 {source="MONDO:equivalentTo"} is_a: MONDO:0015182 {source="Orphanet:103910"} ! congenital enteropathy involving intestinal mucosa development @@ -301612,7 +301453,7 @@ id: MONDO:0015172 name: obsolete epithelio-exfoliative colitis-deafness syndrome def: "OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." [Orphanet:103912] comment: Obsolete in Orphanet -xref: ICD10CM:P78.3 {source="ORDO:103912/attributed", source="ORDO:103912/ntbt", source="Orphanet:103912"} +xref: ICD10CM:P78.3 {source="Orphanet:103912", source="Orphanet:103912/attributed", source="Orphanet:103912/ntbt"} xref: Orphanet:103912 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226615 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -301622,7 +301463,7 @@ id: MONDO:0015173 name: obsolete autoimmune enteropathy type 2 comment: Obsolete in Orphanet subset: ordo_disease {source="Orphanet:103916"} -xref: ICD10CM:K52.8 {source="ORDO:103916/ntbt", source="Orphanet:103916"} +xref: ICD10CM:K52.8 {source="Orphanet:103916/ntbt", source="Orphanet:103916"} xref: Orphanet:103916 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226616 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -301632,7 +301473,7 @@ consider: Orphanet:522043 id: MONDO:0015174 name: autoimmune enteropathy type 3 subset: ordo_disease {source="Orphanet:103917"} -xref: ICD10CM:K52.8 {source="Orphanet:103917", source="ORDO:103917/ntbt"} +xref: ICD10CM:K52.8 {source="Orphanet:103917/ntbt", source="Orphanet:103917"} xref: Orphanet:103917 {source="MONDO:equivalentTo"} xref: UMLS:CN226617 {source="MONDO:equivalentTo"} is_a: MONDO:0019126 {source="Orphanet:103917"} ! intractable diarrhea of infancy @@ -301647,12 +301488,12 @@ synonym: "AIP" EXACT ABBREVIATION [Orphanet:103919] synonym: "lymphoplasmocytic sclerosing pancreatitis" RELATED [GARD:0010911] xref: DOID:0040091 {source="MONDO:equivalentTo"} xref: GARD:0010911 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K86.1 {source="ORDO:103919/ntbt", source="Orphanet:103919"} -xref: MedDRA:10069002 {source="Orphanet:103919", source="ORDO:103919/e"} +xref: ICD10CM:K86.1 {source="Orphanet:103919/ntbt", source="Orphanet:103919"} +xref: MedDRA:10069002 {source="Orphanet:103919/e", source="Orphanet:103919"} xref: Orphanet:103919 {source="MONDO:equivalentTo"} xref: SCTID:2898300013 {source="DOID:0040091"} xref: SCTID:448542008 {source="MONDO:equivalentTo"} -xref: UMLS:C2609129 {source="DOID:0040091", source="MONDO:equivalentTo", source="Orphanet:103919", source="ORDO:103919/e"} +xref: UMLS:C2609129 {source="Orphanet:103919/e", source="DOID:0040091", source="MONDO:equivalentTo", source="Orphanet:103919"} is_a: MONDO:0000569 {source="DOID:0040091", source="MONDO:Redundant"} ! autoimmune disorder of endocrine system is_a: MONDO:0002356 {source="DOID:0040091", source="Orphanet:103919", source="indirect", source="linkedlifedata/inferred"} ! pancreas disorder is_a: MONDO:0017287 {source="Orphanet:103919"} ! IgG4-related disease @@ -301665,7 +301506,7 @@ id: MONDO:0015176 name: undetermined colitis def: "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." [Orphanet:103920] subset: ordo_disease {source="Orphanet:103920"} -xref: ICD10CM:K52.3 {source="MONDO:relatedTo", source="Orphanet:103920", source="ORDO:103920/e"} +xref: ICD10CM:K52.3 {source="MONDO:relatedTo", source="Orphanet:103920", source="Orphanet:103920/e"} xref: Orphanet:103920 {source="MONDO:equivalentTo"} is_a: MONDO:0005265 {source="Orphanet:103920"} ! inflammatory bowel disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015187"} ! rare @@ -301682,15 +301523,15 @@ synonym: "Maroteaux Verloes Stanescu syndrome" RELATED [GARD:0003562] synonym: "Maroteaux-Verloes-Stanescu syndrome" EXACT [Orphanet:1040] synonym: "regressive metaphyseal dysplasia" EXACT [GARD:0003562, Orphanet:1040] xref: GARD:0003562 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.5 {source="Orphanet:1040", source="ORDO:1040/attributed", source="ORDO:1040/ntbt"} +xref: ICD10CM:Q78.5 {source="Orphanet:1040/attributed", source="Orphanet:1040/ntbt", source="Orphanet:1040"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537351 {source="MONDO:equivalentTo", source="Orphanet:1040", source="ORDO:1040/e"} +xref: MESH:C537351 {source="Orphanet:1040/e", source="MONDO:equivalentTo", source="Orphanet:1040"} xref: OMIM:309645 {source="MONDO:equivalentObsolete", source="GARD:0003562"} -xref: OMIM:602111 {source="MONDO:subClassOf", source="Orphanet:1040", source="ORDO:1040/ntbt"} -xref: OMIM:613073 {source="MONDO:superClassOf", source="Orphanet:1040", source="ORDO:1040/btnt"} +xref: OMIM:602111 {source="MONDO:subClassOf", source="Orphanet:1040/ntbt", source="Orphanet:1040"} +xref: OMIM:613073 {source="MONDO:superClassOf", source="Orphanet:1040/btnt", source="Orphanet:1040"} xref: Orphanet:1040 {source="MONDO:equivalentTo"} xref: SCTID:254085009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432226 {source="MONDO:equivalentTo", source="Orphanet:1040", source="ORDO:1040/e", source="GARD:0003562"} +xref: UMLS:C0432226 {source="Orphanet:1040/e", source="MONDO:equivalentTo", source="Orphanet:1040", source="GARD:0003562"} is_a: MONDO:0019693 {source="Orphanet:1040"} ! multiple metaphyseal dysplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia xsd:anyURI {source="GARD:0003562"} @@ -301769,14 +301610,14 @@ synonym: "short gut syndrome" EXACT [DOID:10605] xref: DOID:10605 {source="MONDO:equivalentTo"} xref: GARD:0001502 {source="MONDO:equivalentTo"} xref: ICD9:579.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049416 {source="Orphanet:104008", source="ORDO:104008/e"} -xref: MESH:D012778 {source="Orphanet:104008", source="ORDO:104008/e", source="DOID:10605", source="MONDO:equivalentTo"} +xref: MedDRA:10049416 {source="Orphanet:104008", source="Orphanet:104008/e"} +xref: MESH:D012778 {source="Orphanet:104008", source="DOID:10605", source="MONDO:equivalentTo", source="Orphanet:104008/e"} xref: NCIT:C99059 {source="DOID:10605", source="MONDO:equivalentTo"} xref: Orphanet:104008 {source="MONDO:equivalentTo"} xref: SCTID:204768009 {source="DOID:10605"} xref: SCTID:235724004 {source="DOID:10605"} xref: SCTID:26629001 {source="DOID:10605", source="MONDO:equivalentTo"} -xref: UMLS:C0036992 {source="Orphanet:104008", source="ORDO:104008/e", source="DOID:10605", source="MONDO:equivalentTo", source="NCIT:C99059"} +xref: UMLS:C0036992 {source="Orphanet:104008", source="DOID:10605", source="MONDO:equivalentTo", source="Orphanet:104008/e", source="NCIT:C99059"} is_a: MONDO:0005020 {source="Orphanet:104008"} ! intestinal disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome xsd:anyURI {source="GARD:0001502"} @@ -301799,13 +301640,13 @@ id: MONDO:0015185 name: intestinal polyposis syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:104010"} -xref: MedDRA:10057018 {source="ORDO:104010/e", source="Orphanet:104010"} -xref: MESH:D044483 {source="MONDO:superClassOf", source="ORDO:104010/e", source="Orphanet:104010"} +xref: MedDRA:10057018 {source="Orphanet:104010/e", source="Orphanet:104010"} +xref: MESH:D044483 {source="Orphanet:104010/e", source="MONDO:superClassOf", source="Orphanet:104010"} xref: NCIT:C155954 {source="MONDO:equivalentTo"} xref: Orphanet:104010 {source="MONDO:equivalentTo"} xref: SCTID:254589009 {source="MONDO:equivalentTo"} -xref: UMLS:C0345891 {source="MONDO:equivalentTo", source="ORDO:104010/e", source="Orphanet:104010"} -xref: UMLS:C1257915 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:104010/e", source="Orphanet:104010"} +xref: UMLS:C0345891 {source="Orphanet:104010/e", source="MONDO:equivalentTo", source="Orphanet:104010"} +xref: UMLS:C1257915 {source="Orphanet:104010/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:104010"} xref: UMLS:CN197525 {source="MONDO:equivalentTo"} is_a: MONDO:0018538 {source="Orphanet:104010"} ! inherited digestive cancer-predisposing syndrome @@ -301871,7 +301712,7 @@ replaced_by: MONDO:0003360 id: MONDO:0015191 name: myopathic intestinal pseudoobstruction subset: ordo_etiological_subtype {source="Orphanet:104077"} -xref: ICD10CM:K59.8 {source="Orphanet:104077", source="ORDO:104077/attributed", source="ORDO:104077/ntbt"} +xref: ICD10CM:K59.8 {source="Orphanet:104077/attributed", source="Orphanet:104077/ntbt", source="Orphanet:104077"} xref: Orphanet:104077 {source="MONDO:equivalentTo"} is_a: MONDO:0017574 {source="Orphanet:104077"} ! chronic intestinal pseudoobstruction @@ -301879,7 +301720,7 @@ is_a: MONDO:0017574 {source="Orphanet:104077"} ! chronic intestinal pseudoobstru id: MONDO:0015192 name: obsolete unclassified intestinal pseudoobstruction subset: ordo_etiological_subtype {source="Orphanet:104078"} -xref: ICD10CM:K59.8 {source="ORDO:104078/attributed", source="ORDO:104078/ntbt", source="Orphanet:104078"} +xref: ICD10CM:K59.8 {source="Orphanet:104078/attributed", source="Orphanet:104078/ntbt", source="Orphanet:104078"} xref: Orphanet:104078 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN197532 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/2494 @@ -301906,16 +301747,16 @@ synonym: "idiopathic hydrops fetalis" RELATED [GARD:0002783] xref: GARD:0002301 {source="MONDO:equivalentTo"} xref: GARD:0002783 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0001789 {source="MONDO:otherHierarchy"} -xref: ICD10CM:P56.0 {source="ORDO:1041/btnt", source="Orphanet:1041"} -xref: ICD10CM:P56.9 {source="ORDO:1041/btnt", source="Orphanet:1041"} -xref: ICD10CM:P83.2 {source="ORDO:1041/btnt", source="Orphanet:1041"} -xref: MedDRA:10020529 {source="ORDO:1041/e", source="Orphanet:1041"} -xref: MESH:D015160 {source="ORDO:1041/e", source="Orphanet:1041"} +xref: ICD10CM:P56.0 {source="Orphanet:1041/btnt", source="Orphanet:1041"} +xref: ICD10CM:P56.9 {source="Orphanet:1041/btnt", source="Orphanet:1041"} +xref: ICD10CM:P83.2 {source="Orphanet:1041/btnt", source="Orphanet:1041"} +xref: MedDRA:10020529 {source="Orphanet:1041/e", source="Orphanet:1041"} +xref: MESH:D015160 {source="Orphanet:1041/e", source="Orphanet:1041"} xref: NCIT:C84767 {source="MONDO:equivalentTo"} -xref: OMIM:236750 {source="MONDO:superClassOf", source="ORDO:1041/btnt", source="Orphanet:1041"} +xref: OMIM:236750 {source="Orphanet:1041/btnt", source="MONDO:superClassOf", source="Orphanet:1041"} xref: Orphanet:1041 {source="MONDO:equivalentTo"} xref: SCTID:276508000 {source="MONDO:equivalentTo"} -xref: UMLS:C0020305 {source="GARD:0002301", source="NCIT:C84767", source="MONDO:equivalentTo", source="ORDO:1041/e", source="Orphanet:1041"} +xref: UMLS:C0020305 {source="GARD:0002301", source="NCIT:C84767", source="Orphanet:1041/e", source="MONDO:equivalentTo", source="Orphanet:1041"} is_a: MONDO:0019755 {source="Orphanet:1041"} ! developmental defect during embryogenesis property_value: IAO:0000589 "hydrops fetalis (disease)" xsd:string @@ -301931,20 +301772,20 @@ synonym: "anemia, sideroblastic" EXACT [OMIMPS:300751] synonym: "sideroblastic anemia" EXACT [MONDO:0004688] xref: DOID:8955 {source="MONDO:equivalentTo"} xref: GARD:0000667 {source="MONDO:equivalentTo"} -xref: ICD10CM:D64.0 {source="Orphanet:1047", source="ORDO:1047/btnt"} -xref: ICD10CM:D64.1 {source="Orphanet:1047", source="ORDO:1047/btnt"} -xref: ICD10CM:D64.2 {source="Orphanet:1047", source="ORDO:1047/btnt"} -xref: ICD10CM:D64.3 {source="DOID:8955", source="Orphanet:1047", source="ORDO:1047/btnt"} +xref: ICD10CM:D64.0 {source="Orphanet:1047/btnt", source="Orphanet:1047"} +xref: ICD10CM:D64.1 {source="Orphanet:1047/btnt", source="Orphanet:1047"} +xref: ICD10CM:D64.2 {source="Orphanet:1047/btnt", source="Orphanet:1047"} +xref: ICD10CM:D64.3 {source="Orphanet:1047/btnt", source="DOID:8955", source="Orphanet:1047"} xref: ICD9:285.0 {source="DOID:8955", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10040661 {source="ORDO:1047/e", source="Orphanet:1047"} -xref: MESH:D000756 {source="ORDO:1047/e", source="DOID:8955", source="Orphanet:1047", source="MONDO:equivalentTo"} +xref: MedDRA:10040661 {source="Orphanet:1047", source="Orphanet:1047/e"} +xref: MESH:D000756 {source="DOID:8955", source="Orphanet:1047", source="MONDO:equivalentTo", source="Orphanet:1047/e"} xref: NCIT:C36078 {source="DOID:8955", source="MONDO:equivalentTo"} xref: OMIMPS:300751 {source="MONDO:cjm", source="MONDO:relatedTo"} xref: Orphanet:1047 {source="MONDO:equivalentTo"} xref: SCTID:154810008 {source="DOID:8955"} xref: SCTID:191263002 {source="DOID:8955"} xref: SCTID:41841004 {source="DOID:8955", source="MONDO:equivalentTo"} -xref: UMLS:C0002896 {source="ORDO:1047/e", source="DOID:8955", source="NCIT:C36078", source="Orphanet:1047", source="MONDO:equivalentTo"} +xref: UMLS:C0002896 {source="DOID:8955", source="NCIT:C36078", source="Orphanet:1047", source="MONDO:equivalentTo", source="Orphanet:1047/e"} is_a: MONDO:0002280 {source="DOID:8955/inferred", source="MESH:D000756", source="MONDO:Redundant", source="NCIT:C36078", source="linkedlifedata"} ! anemia relationship: excluded_subClassOf MONDO:0012197 {source="DOID:8955"} ! idiopathic aplastic anemia @@ -301957,12 +301798,12 @@ synonym: "atresia of urethra" EXACT [MONDO:ambiguous] synonym: "atresia of urethra (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "urethral atresia" EXACT [Orphanet:105] xref: HP:0000068 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q64.3 {source="MONDO:relatedTo", source="Orphanet:105", source="ORDO:105/specific", source="ORDO:105/e"} -xref: MedDRA:10064895 {source="Orphanet:105", source="ORDO:105/e"} +xref: ICD10CM:Q64.3 {source="MONDO:relatedTo", source="Orphanet:105", source="Orphanet:105/e", source="Orphanet:105/specific"} +xref: MedDRA:10064895 {source="Orphanet:105", source="Orphanet:105/e"} xref: Orphanet:105 {source="MONDO:equivalentTo"} xref: SCTID:253902002 {source="MONDO:equivalentTo"} -xref: UMLS:C0345345 {source="Orphanet:105", source="MONDO:notFoundInDiseaseSubset", source="ORDO:105/e"} -xref: UMLS:C1610065 {source="Orphanet:105", source="MONDO:notFoundInDiseaseSubset", source="ORDO:105/e"} +xref: UMLS:C0345345 {source="Orphanet:105", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:105/e"} +xref: UMLS:C1610065 {source="Orphanet:105", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:105/e"} is_a: MONDO:0018559 {source="Orphanet:105"} ! fetal lower urinary tract obstruction property_value: IAO:0000589 "atresia of urethra (disease)" xsd:string @@ -301979,11 +301820,11 @@ synonym: "vein of Galen aneurysm malformation" RELATED [GARD:0005467] synonym: "vein of Galen arteriovenous malformations" EXACT [Orphanet:1053] synonym: "VGAM" RELATED ABBREVIATION [GARD:0005467] xref: GARD:0005467 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q28.2 {source="ORDO:1053/ntbt", source="Orphanet:1053"} -xref: MESH:C536535 {source="MONDO:equivalentTo", source="Orphanet:1053", source="ORDO:1053/e"} +xref: ICD10CM:Q28.2 {source="Orphanet:1053/ntbt", source="Orphanet:1053"} +xref: MESH:C536535 {source="Orphanet:1053/e", source="MONDO:equivalentTo", source="Orphanet:1053"} xref: Orphanet:1053 {source="MONDO:equivalentTo"} xref: SCTID:253194008 {source="MONDO:equivalentTo"} -xref: UMLS:C0431420 {source="MONDO:equivalentTo", source="Orphanet:1053", source="ORDO:1053/e"} +xref: UMLS:C0431420 {source="Orphanet:1053/e", source="MONDO:equivalentTo", source="Orphanet:1053"} is_a: MONDO:0001256 {source="Orphanet:1053"} ! arteriovenous hemangioma/malformation is_a: MONDO:0015145 {source="Orphanet:1053"} ! neurovascular malformation relationship: disease_has_location UBERON:0006666 ! great cerebral vein @@ -301999,7 +301840,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:1054"} synonym: "sinus of Valsalva aneurysm" RELATED [GARD:0000670] synonym: "SVA" RELATED ABBREVIATION [GARD:0000670] xref: GARD:0000670 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q25.4 {source="Orphanet:1054", source="ORDO:1054/ntbt"} +xref: ICD10CM:Q25.4 {source="Orphanet:1054", source="Orphanet:1054/ntbt"} xref: ICD9:747.29 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:1054 {source="MONDO:equivalentTo"} xref: SCTID:54160000 {source="MONDO:equivalentTo"} @@ -302033,9 +301874,9 @@ synonym: "aniridia associated with mental retardation and other eye abnormalitie synonym: "Walker Dyson syndrome" RELATED [GARD:0005530] synonym: "Walker-Dyson syndrome" EXACT [Orphanet:1068] xref: GARD:0005530 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: MESH:C536568 {source="Orphanet:1068", source="ORDO:1068/e", source="MONDO:equivalentTo"} +xref: MESH:C536568 {source="Orphanet:1068", source="MONDO:equivalentTo", source="Orphanet:1068/e"} xref: Orphanet:1068 {source="MONDO:equivalentTo"} -xref: UMLS:C2931243 {source="Orphanet:1068", source="ORDO:1068/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931243 {source="Orphanet:1068", source="MONDO:equivalentTo", source="Orphanet:1068/e"} is_a: MONDO:0000508 {source="Orphanet:1068"} ! syndromic intellectual disability is_a: MONDO:0020148 {source="Orphanet:1068"} ! syndromic aniridia relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -302055,18 +301896,18 @@ synonym: "Pseudoterranova infection" RELATED [GARD:0000693] xref: DOID:7033 {source="MONDO:equivalentTo", source="EFO:0007146"} xref: EFO:0007146 {source="MONDO:equivalentTo"} xref: GARD:0000693 {source="MONDO:equivalentTo"} -xref: ICD10CM:B81.0 {source="MONDO:equivalentTo", source="ORDO:1070/e", source="Orphanet:1070", source="DOID:7033"} +xref: ICD10CM:B81.0 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033"} xref: ICD9:127.1 {source="DOID:7033"} -xref: MedDRA:10002533 {source="ORDO:1070/e", source="Orphanet:1070"} -xref: MESH:D017129 {source="MONDO:equivalentTo", source="ORDO:1070/e", source="Orphanet:1070", source="DOID:7033", source="EFO:0007146"} +xref: MedDRA:10002533 {source="Orphanet:1070/e", source="Orphanet:1070"} +xref: MESH:D017129 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033", source="EFO:0007146"} xref: NCIT:C128393 {source="MONDO:equivalentTo"} xref: Orphanet:1070 {source="MONDO:equivalentTo"} xref: SCTID:187173002 {source="DOID:7033"} xref: SCTID:32183007 {source="DOID:7033"} xref: SCTID:442652006 {source="MONDO:equivalentTo"} -xref: UMLS:C0162576 {source="MONDO:equivalentTo", source="ORDO:1070/e", source="Orphanet:1070", source="DOID:7033"} +xref: UMLS:C0162576 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033"} xref: UMLS:C2711266 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C128393"} -xref: UMLS:C2711591 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1070/e", source="Orphanet:1070"} +xref: UMLS:C2711591 {source="Orphanet:1070/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1070"} is_a: MONDO:0004664 {source="DOID:7033", source="ICD10CM:B81.0/inferred", source="MESH:D017129/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:7033/inferred", source="EFO:0007146", source="MESH:D017129/inferred", source="MONDO:Redundant", source="NCIT:C128393", source="Orphanet:1070", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0024270 {source="MESH:D017129", source="MONDO:Redundant"} ! parasitic intestinal disorder @@ -302082,7 +301923,7 @@ def: "An extremely rare developmental defect during embryogenesis malformation s subset: ordo_malformation_syndrome {source="Orphanet:1074"} synonym: "ankyloblepharon filiforme adnatum-imperforate anus syndrome" RELATED [Orphanet:1074] synonym: "Aughton-Hufnagle syndrome" EXACT [Orphanet:1074] -xref: ICD10CM:Q87.8 {source="ORDO:1074/attributed", source="ORDO:1074/ntbt", source="Orphanet:1074"} +xref: ICD10CM:Q87.8 {source="Orphanet:1074/attributed", source="Orphanet:1074/ntbt", source="Orphanet:1074"} xref: Orphanet:1074 {source="MONDO:equivalentTo"} xref: UMLS:CN197555 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:1074"} ! syndromic anorectal malformation @@ -302100,8 +301941,8 @@ id: MONDO:0015203 name: coronary artery congenital malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1081"} -xref: ICD10CM:Q24.5 {source="ORDO:1081/e", source="Orphanet:1081"} -xref: MedDRA:10061060 {source="ORDO:1081/e", source="Orphanet:1081"} +xref: ICD10CM:Q24.5 {source="Orphanet:1081/e", source="Orphanet:1081"} +xref: MedDRA:10061060 {source="Orphanet:1081/e", source="Orphanet:1081"} xref: Orphanet:1081 {source="MONDO:equivalentTo"} xref: UMLS:C0158623 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1081"} is_a: MONDO:0019512 {source="Orphanet:1081"} ! congenital heart malformation @@ -302111,9 +301952,9 @@ id: MONDO:0015204 name: microlissencephaly def: "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." [Orphanet:1083] subset: ordo_morphological_anomaly {source="Orphanet:1083"} -xref: ICD10CM:Q04.3 {source="ORDO:1083/ntbt", source="ORDO:1083/inclusion", source="Orphanet:1083"} -xref: OMIM:614019 {source="ORDO:1083/btnt", source="MONDO:superClassOf", source="Orphanet:1083"} -xref: OMIM:616212 {source="ORDO:1083/btnt", source="MONDO:superClassOf", source="Orphanet:1083"} +xref: ICD10CM:Q04.3 {source="Orphanet:1083/inclusion", source="Orphanet:1083/ntbt", source="Orphanet:1083"} +xref: OMIM:614019 {source="MONDO:superClassOf", source="Orphanet:1083/btnt", source="Orphanet:1083"} +xref: OMIM:616212 {source="MONDO:superClassOf", source="Orphanet:1083/btnt", source="Orphanet:1083"} xref: Orphanet:1083 {source="MONDO:equivalentTo"} xref: UMLS:C1956147 {source="MONDO:equivalentTo", source="Orphanet:1083"} is_a: MONDO:0018838 {source="Orphanet:1083"} ! lissencephaly spectrum disorders @@ -302123,7 +301964,7 @@ id: MONDO:0015205 name: isolated lissencephaly type 1 without known genetic defects def: "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." [Orphanet:1084] subset: ordo_disease {source="Orphanet:1084"} -xref: ICD10CM:Q04.3 {source="Orphanet:1084", source="ORDO:1084/attributed", source="ORDO:1084/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:1084/attributed", source="Orphanet:1084/ntbt", source="Orphanet:1084"} xref: Orphanet:1084 {source="MONDO:equivalentTo"} xref: SCTID:715406003 {source="MONDO:equivalentTo"} xref: UMLS:C4275151 {source="MONDO:equivalentTo"} @@ -302138,7 +301979,7 @@ synonym: "Rommen Mueller Sybert syndrome" RELATED [GARD:0004739] synonym: "Rommen-Mueller-Sybert syndrome" EXACT [Orphanet:1088] synonym: "short stature heart defect and craniofacial anomalies" RELATED [GARD:0004739] xref: GARD:0004739 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:1088", source="ORDO:1088/attributed", source="ORDO:1088/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:1088", source="Orphanet:1088/attributed", source="Orphanet:1088/ntbt"} xref: MESH:C535871 {source="MONDO:equivalentTo"} xref: Orphanet:1088 {source="MONDO:equivalentObsolete"} xref: UMLS:C2931050 {source="Orphanet:1088", source="MONDO:equivalentTo"} @@ -302398,10 +302239,10 @@ subset: clingen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:109007"} synonym: "arthrogryposis syndrome" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q68.8 {source="ORDO:109007/attributed", source="ORDO:109007/ntbt", source="Orphanet:109007"} -xref: MESH:D001176 {source="MONDO:relatedTo", source="Orphanet:109007", source="ORDO:109007/e"} +xref: ICD10CM:Q68.8 {source="Orphanet:109007/attributed", source="Orphanet:109007/ntbt", source="Orphanet:109007"} +xref: MESH:D001176 {source="MONDO:relatedTo", source="Orphanet:109007/e", source="Orphanet:109007"} xref: Orphanet:109007 {source="MONDO:equivalentTo"} -xref: UMLS:C0003886 {source="MONDO:relatedTo", source="Orphanet:109007", source="ORDO:109007/e"} +xref: UMLS:C0003886 {source="MONDO:relatedTo", source="Orphanet:109007/e", source="Orphanet:109007"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation is_a: MONDO:0021147 {source="Orphanet:109007", source="Orphanet:109007/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -302418,7 +302259,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q87.2 {source="Orphanet:109009", source="ORDO:109009/e"} +consider: ICD10CM:Q87.2 {source="Orphanet:109009", source="Orphanet:109009/e"} [Term] id: MONDO:0015227 @@ -302449,12 +302290,12 @@ synonym: "Pentasomy X syndrome" RELATED [GARD:0005678] synonym: "poly-X" EXACT [Orphanet:11] synonym: "XXXXX syndrome" EXACT [NCIT:C89802] xref: GARD:0005678 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q97.1 {source="Orphanet:11", source="ORDO:11/attributed", source="ORDO:11/ntbt"} -xref: MESH:C535319 {source="ORDO:11/e", source="Orphanet:11", source="MONDO:equivalentTo"} +xref: ICD10CM:Q97.1 {source="Orphanet:11/attributed", source="Orphanet:11/ntbt", source="Orphanet:11"} +xref: MESH:C535319 {source="Orphanet:11", source="MONDO:equivalentTo", source="Orphanet:11/e"} xref: NCIT:C89802 {source="MONDO:equivalentTo"} xref: Orphanet:11 {source="MONDO:equivalentTo"} xref: SCTID:43248007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265497 {source="ORDO:11/e", source="Orphanet:11", source="MONDO:equivalentTo", source="NCIT:C89802"} +xref: UMLS:C0265497 {source="Orphanet:11", source="MONDO:equivalentTo", source="Orphanet:11/e", source="NCIT:C89802"} xref: UMLS:C2937419 {source="Orphanet:11", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="NCIT:C89802"} ! syndromic disease is_a: MONDO:0700085 {source="https://orcid.org/0000-0002-4142-7153"} ! pentasomy @@ -302473,36 +302314,36 @@ synonym: "Laurence-Moon-Bardet-Biedl syndrome" EXACT EXCLUDE [NCIT:C118632] synonym: "Laurence-Moon-Biedl syndrome" EXACT EXCLUDE [NCIT:C118632] xref: DOID:1935 {source="MONDO:equivalentTo"} xref: GARD:0006866 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:110/inclusion", source="ORDO:110/ntbt", source="Orphanet:110"} +xref: ICD10CM:Q87.8 {source="Orphanet:110/inclusion", source="Orphanet:110/ntbt", source="Orphanet:110"} xref: ICD10CM:Q87.89 {source="DOID:1935"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056715 {source="ORDO:110/e", source="Orphanet:110"} -xref: MESH:D020788 {source="MONDO:equivalentTo", source="ORDO:110/e", source="DOID:1935", source="Orphanet:110"} +xref: MedDRA:10056715 {source="Orphanet:110/e", source="Orphanet:110"} +xref: MESH:D020788 {source="Orphanet:110/e", source="MONDO:equivalentTo", source="DOID:1935", source="Orphanet:110"} xref: NCIT:C118632 {source="MONDO:equivalentTo", source="DOID:1935"} -xref: OMIM:209900 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:600151 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:605231 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615981 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615982 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615983 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615984 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615985 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615986 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615987 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615988 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615989 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615990 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615991 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615992 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615993 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615994 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615995 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:615996 {source="ORDO:110/btnt", source="MONDO:superClassOf"} -xref: OMIM:617119 {source="ORDO:110/btnt", source="MONDO:superClassOf"} +xref: OMIM:209900 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:600151 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:605231 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615981 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615982 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615983 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615984 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615985 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615986 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615987 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615988 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615989 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615990 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615991 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615992 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615993 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615994 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615995 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:615996 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} +xref: OMIM:617119 {source="MONDO:superClassOf", source="Orphanet:110/btnt"} xref: OMIMPS:209900 {source="MONDO:equivalentTo", source="DOID:1935"} xref: Orphanet:110 {source="MONDO:equivalentTo", source="DOID:1935"} xref: SCTID:5619004 {source="MONDO:equivalentTo", source="DOID:1935"} -xref: UMLS:C0752166 {source="NCIT:C118632", source="MONDO:equivalentTo", source="ORDO:110/e", source="DOID:1935", source="Orphanet:110"} +xref: UMLS:C0752166 {source="Orphanet:110/e", source="NCIT:C118632", source="MONDO:equivalentTo", source="DOID:1935", source="Orphanet:110"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118632", source="indirect"} ! syndromic disease is_a: MONDO:0005308 ! ciliopathy is_a: MONDO:0006025 {source="DOID:1935", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal recessive disease @@ -302528,7 +302369,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1101"} synonym: "anophthalmia megalocornea cardiopathy skeletal anomalies" EXACT [MONDO:0022463] synonym: "Cassia Stocco dos Santos syndrome" EXACT [Orphanet:1101] xref: GARD:0000717 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1101", source="ORDO:1101/attributed", source="ORDO:1101/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1101", source="Orphanet:1101/attributed", source="Orphanet:1101/ntbt"} xref: Orphanet:1101 {source="MONDO:equivalentTo"} xref: SCTID:720495005 {source="MONDO:equivalentTo"} xref: UMLS:CN197570 {source="MONDO:equivalentTo"} @@ -302556,25 +302397,25 @@ synonym: "salt-losing tubular disorder, Henle's loop type" EXACT [Orphanet:112] synonym: "salt-wasting tubulopathy, Henle's loop type" EXACT [Orphanet:112] xref: DOID:445 {source="MONDO:equivalentTo"} xref: GARD:0005893 {source="MONDO:equivalentTo"} -xref: ICD10CM:E26.8 {source="ORDO:112/ntbt", source="ORDO:112/inclusion", source="Orphanet:112"} +xref: ICD10CM:E26.8 {source="Orphanet:112/ntbt", source="Orphanet:112/inclusion", source="Orphanet:112"} xref: ICD10CM:E26.81 {source="DOID:445"} xref: ICD9:255.13 {source="DOID:445", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10050839 {source="ORDO:112/e", source="Orphanet:112"} -xref: MESH:D001477 {source="DOID:445", source="MONDO:equivalentTo", source="ORDO:112/e", source="Orphanet:112"} +xref: MedDRA:10050839 {source="Orphanet:112/e", source="Orphanet:112"} +xref: MESH:D001477 {source="DOID:445", source="Orphanet:112/e", source="MONDO:equivalentTo", source="Orphanet:112"} xref: NCIT:C34412 {source="DOID:445", source="MONDO:equivalentTo"} -xref: OMIM:241200 {source="ORDO:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} -xref: OMIM:300971 {source="ORDO:112/btnt", source="MONDO:superClassOf", source="Orphanet:112"} -xref: OMIM:601198 {source="ORDO:112/ntbt", source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:112"} -xref: OMIM:601678 {source="ORDO:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} -xref: OMIM:602522 {source="ORDO:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} -xref: OMIM:607364 {source="ORDO:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} -xref: OMIM:613090 {source="ORDO:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} +xref: OMIM:241200 {source="Orphanet:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} +xref: OMIM:300971 {source="Orphanet:112/btnt", source="MONDO:superClassOf", source="Orphanet:112"} +xref: OMIM:601198 {source="MONDO:relatedTo", source="Orphanet:112/ntbt", source="MONDO:superClassOf", source="Orphanet:112"} +xref: OMIM:601678 {source="Orphanet:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} +xref: OMIM:602522 {source="Orphanet:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} +xref: OMIM:607364 {source="Orphanet:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} +xref: OMIM:613090 {source="Orphanet:112/btnt", source="MONDO:superClassOf", source="GARD:0005893", source="Orphanet:112"} xref: OMIMPS:601678 {source="DOID:445", source="MONDO:equivalentTo"} xref: Orphanet:112 {source="MONDO:equivalentTo", source="GARD:0005893"} xref: SCTID:190506003 {source="DOID:445"} xref: SCTID:707742001 {source="DOID:445", source="MONDO:equivalentTo"} xref: SCTID:71275003 {source="DOID:445"} -xref: UMLS:C0004775 {source="DOID:445", source="MONDO:equivalentTo", source="ORDO:112/e", source="NCIT:C34412", source="GARD:0005893", source="Orphanet:112"} +xref: UMLS:C0004775 {source="DOID:445", source="Orphanet:112/e", source="MONDO:equivalentTo", source="NCIT:C34412", source="GARD:0005893", source="Orphanet:112"} xref: UMLS:C0085570 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C34412"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -302587,7 +302428,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5893/bartter- id: MONDO:0015232 name: radial deficiency-tibial hypoplasia syndrome subset: ordo_malformation_syndrome {source="Orphanet:1121"} -xref: ICD10CM:Q73.8 {source="Orphanet:1121", source="ORDO:1121/attributed", source="ORDO:1121/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:1121", source="Orphanet:1121/attributed", source="Orphanet:1121/ntbt"} xref: Orphanet:1121 {source="MONDO:equivalentTo"} xref: UMLS:CN226642 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -302623,7 +302464,7 @@ synonym: "arachnodactyly, abnormal ossification and intellectual disability" REL synonym: "arachnodactyly, abnormal ossification and mental retardation" RELATED DEPRECATED [GARD:0000381] synonym: "Kosztolanyi syndrome" EXACT [Orphanet:1129] xref: GARD:0000381 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1129/attributed", source="ORDO:1129/ntbt", source="Orphanet:1129"} +xref: ICD10CM:Q87.8 {source="Orphanet:1129", source="Orphanet:1129/attributed", source="Orphanet:1129/ntbt"} xref: MESH:C537024 {source="MONDO:equivalentTo"} xref: Orphanet:1129 {source="MONDO:equivalentTo"} xref: SCTID:720501007 {source="MONDO:equivalentTo"} @@ -302640,7 +302481,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1130"} synonym: "arachnodactyly - intellectual disability - dysmorphism" RELATED [GARD:0000764] synonym: "De Die-Smulders-Vles-Fryns syndrome" EXACT [Orphanet:1130] xref: GARD:0000764 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1130/attributed", source="ORDO:1130/ntbt", source="Orphanet:1130"} +xref: ICD10CM:Q87.8 {source="Orphanet:1130/attributed", source="Orphanet:1130/ntbt", source="Orphanet:1130"} xref: Orphanet:1130 {source="MONDO:equivalentTo"} xref: SCTID:720502000 {source="MONDO:equivalentTo"} xref: UMLS:CN197590 {source="MONDO:equivalentTo"} @@ -302657,7 +302498,7 @@ subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:1132"} xref: GARD:0000741 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q25.4 {source="Orphanet:1132", source="ORDO:1132/ntbt"} +xref: ICD10CM:Q25.4 {source="Orphanet:1132", source="Orphanet:1132/ntbt"} xref: Orphanet:1132 {source="MONDO:equivalentTo"} is_a: MONDO:0015222 {source="Orphanet:1132"} ! syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:1132"} ! respiratory malformation @@ -302677,12 +302518,12 @@ synonym: "isolated nose agenesis" EXACT [Orphanet:1134] synonym: "Nose agenesia" RELATED [GARD:0000364] synonym: "Nose agenesis" EXACT [Orphanet:1134] xref: GARD:0000364 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q30.1 {source="Orphanet:1134", source="ORDO:1134/ntbt"} +xref: ICD10CM:Q30.1 {source="Orphanet:1134", source="Orphanet:1134/ntbt"} xref: ICD9:748.1 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537438 {source="Orphanet:1134", source="ORDO:1134/e", source="MONDO:equivalentTo"} +xref: MESH:C537438 {source="Orphanet:1134", source="MONDO:equivalentTo", source="Orphanet:1134/e"} xref: Orphanet:1134 {source="MONDO:equivalentTo"} xref: SCTID:111317000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265740 {source="Orphanet:1134", source="ORDO:1134/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265740 {source="Orphanet:1134", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1134/e"} is_a: MONDO:0015503 {source="Orphanet:1134"} ! nose and cavum anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/364/arrhinia xsd:anyURI {source="GARD:0000364"} @@ -302697,8 +302538,8 @@ synonym: "Bosma arhinia microphthalmia syndrome" RELATED [GARD:0008755] synonym: "Bosma Henkin Christiansen syndrome" RELATED [GARD:0008755] synonym: "congenital absence of nose and anterior nasopharynx" RELATED [GARD:0008755] xref: GARD:0008755 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:1135", source="ORDO:1135/attributed", source="ORDO:1135/ntbt"} -xref: OMIM:603457 {source="MONDO:subClassOf", source="GARD:0008755", source="MONDO:relatedTo", source="Orphanet:1135", source="ORDO:1135/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:1135/attributed", source="Orphanet:1135/ntbt", source="Orphanet:1135"} +xref: OMIM:603457 {source="MONDO:subClassOf", source="Orphanet:1135/ntbt", source="GARD:0008755", source="MONDO:relatedTo", source="Orphanet:1135"} xref: Orphanet:1135 {source="GARD:0008755", source="MONDO:equivalentTo"} xref: UMLS:C1863878 {source="GARD:0008755", source="Orphanet:1135", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015161 {source="Orphanet:1135", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -302713,7 +302554,7 @@ id: MONDO:0015239 name: abnormal origin of the pulmonary artery subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1138"} -xref: ICD10CM:Q25.7 {source="ORDO:1138/ntbt", source="Orphanet:1138"} +xref: ICD10CM:Q25.7 {source="Orphanet:1138", source="Orphanet:1138/ntbt"} xref: Orphanet:1138 {source="MONDO:equivalentTo"} xref: SCTID:68092007 {source="MONDO:equivalentTo"} is_a: MONDO:0016581 {source="Orphanet:1138"} ! conotruncal heart malformations @@ -302732,13 +302573,13 @@ synonym: "distal arthrogryposis type 1" EXACT [Orphanet:1146] synonym: "distal arthrogryposis type 1A (sub-type)" NARROW [GARD:0000787] synonym: "distal arthrogryposis type 1B (sub-type)" NARROW [GARD:0000787] xref: GARD:0000787 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="Orphanet:1146", source="ORDO:1146/attributed", source="ORDO:1146/ntbt"} -xref: OMIM:108120 {source="ORDO:1146/e", source="Orphanet:1146", source="GARD:0000787", source="MONDO:superClassOf"} -xref: OMIM:126050 {source="Orphanet:1146", source="MONDO:superClassOf", source="ORDO:1146/btnt"} -xref: OMIM:614335 {source="Orphanet:1146", source="GARD:0000787", source="MONDO:superClassOf", source="ORDO:1146/btnt"} +xref: ICD10CM:Q68.8 {source="Orphanet:1146/attributed", source="Orphanet:1146/ntbt", source="Orphanet:1146"} +xref: OMIM:108120 {source="Orphanet:1146", source="GARD:0000787", source="MONDO:superClassOf", source="Orphanet:1146/e"} +xref: OMIM:126050 {source="Orphanet:1146/btnt", source="Orphanet:1146", source="MONDO:superClassOf"} +xref: OMIM:614335 {source="Orphanet:1146/btnt", source="Orphanet:1146", source="GARD:0000787", source="MONDO:superClassOf"} xref: OMIM:616266 {source="Orphanet:1146", source="MONDO:superClassOf"} xref: Orphanet:1146 {source="GARD:0000787", source="MONDO:equivalentTo"} -xref: UMLS:C0220662 {source="ORDO:1146/e", source="Orphanet:1146", source="GARD:0000787", source="MONDO:equivalentTo"} +xref: UMLS:C0220662 {source="Orphanet:1146", source="GARD:0000787", source="MONDO:equivalentTo", source="Orphanet:1146/e"} xref: UMLS:C1852085 {source="Orphanet:1146", source="MONDO:equivalentTo"} xref: UMLS:CN197602 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1146", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -302758,7 +302599,7 @@ synonym: "Kuskokwim syndrome" RELATED [GARD:0003150] xref: GARD:0000783 {source="MONDO:equivalentTo"} xref: GARD:0003150 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD9:719.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:208200 {source="GARD:0000783", source="MONDO:equivalentObsolete", source="Orphanet:1149", source="ORDO:1149/e"} +xref: OMIM:208200 {source="GARD:0000783", source="MONDO:equivalentObsolete", source="Orphanet:1149", source="Orphanet:1149/e"} xref: Orphanet:1149 {source="MONDO:equivalentTo"} xref: SCTID:702447002 {source="MONDO:equivalentTo"} xref: UMLS:C1859709 {source="GARD:0000783", source="Orphanet:1149", source="MONDO:notFoundInDiseaseSubset"} @@ -302788,16 +302629,16 @@ xref: DOID:13166 {source="MONDO:equivalentTo", source="EFO:0007140"} xref: EFO:0007140 {source="MONDO:equivalentTo"} xref: GARD:0000602 {source="MONDO:equivalentTo"} xref: ICD10CM:B44.81 {source="MONDO:equivalentTo", source="DOID:13166"} -xref: ICD10EXP:B44.1+ {source="Orphanet:1164", source="ORDO:1164/ntbt"} -xref: ICD10EXP:J99.8* {source="Orphanet:1164", source="ORDO:1164/ntbt"} +xref: ICD10EXP:B44.1+ {source="Orphanet:1164", source="Orphanet:1164/ntbt"} +xref: ICD10EXP:J99.8* {source="Orphanet:1164", source="Orphanet:1164/ntbt"} xref: ICD9:518.6 {source="MONDO:equivalentTo", source="i2s", source="DOID:13166"} -xref: MedDRA:10006474 {source="Orphanet:1164", source="ORDO:1164/e"} -xref: MESH:D001229 {source="Orphanet:1164", source="MONDO:equivalentTo", source="EFO:0007140", source="DOID:13166", source="ORDO:1164/e"} +xref: MedDRA:10006474 {source="Orphanet:1164", source="Orphanet:1164/e"} +xref: MESH:D001229 {source="Orphanet:1164", source="MONDO:equivalentTo", source="Orphanet:1164/e", source="EFO:0007140", source="DOID:13166"} xref: NCIT:C84547 {source="MONDO:equivalentTo", source="DOID:13166"} -xref: OMIM:103920 {source="Orphanet:1164", source="MONDO:equivalentTo", source="DOID:13166", source="ORDO:1164/btnt"} +xref: OMIM:103920 {source="Orphanet:1164", source="Orphanet:1164/btnt", source="MONDO:equivalentTo", source="DOID:13166"} xref: Orphanet:1164 {source="MONDO:equivalentTo", source="OMIM:103920"} xref: SCTID:37981002 {source="MONDO:equivalentTo", source="DOID:13166"} -xref: UMLS:C0004031 {source="Orphanet:1164", source="NCIT:C84547", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:13166", source="ORDO:1164/e"} +xref: UMLS:C0004031 {source="Orphanet:1164", source="NCIT:C84547", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:1164/e", source="DOID:13166"} xref: UMLS:C3278302 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:103920"} is_a: MONDO:0000771 {source="MONDO:Redundant", source="Orphanet:1164"} ! allergic respiratory disease is_a: MONDO:0005087 {source="Orphanet:1164"} ! respiratory system disorder @@ -302875,15 +302716,15 @@ synonym: "paraneoplastic opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1 synonym: "POMA syndrome" EXACT [Orphanet:1183] xref: EFO:1001383 {source="MONDO:equivalentTo"} xref: GARD:0010009 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G25.3 {source="Orphanet:1183", source="ORDO:1183/ntbt"} +xref: ICD10CM:G25.3 {source="Orphanet:1183/ntbt", source="Orphanet:1183"} xref: ICD9:379.59 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053854 {source="Orphanet:1183", source="ORDO:1183/e"} -xref: MESH:D053578 {source="MONDO:equivalentTo", source="Orphanet:1183", source="ORDO:1183/e"} +xref: MedDRA:10053854 {source="Orphanet:1183/e", source="Orphanet:1183"} +xref: MESH:D053578 {source="Orphanet:1183/e", source="MONDO:equivalentTo", source="Orphanet:1183"} xref: NCIT:C4686 {source="MONDO:equivalentTo"} xref: Orphanet:1183 {source="MONDO:equivalentTo"} xref: SCTID:230350000 {source="MONDO:equivalentTo"} -xref: UMLS:C0393626 {source="MONDO:equivalentTo", source="NCIT:C4686", source="Orphanet:1183", source="ORDO:1183/e"} -xref: UMLS:C1096154 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1183", source="ORDO:1183/e"} +xref: UMLS:C0393626 {source="Orphanet:1183/e", source="MONDO:equivalentTo", source="NCIT:C4686", source="Orphanet:1183"} +xref: UMLS:C1096154 {source="Orphanet:1183/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1183"} xref: UMLS:C1721017 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1183"} is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0015144 {source="Orphanet:1183"} ! brain inflammatory disease @@ -302913,7 +302754,7 @@ synonym: "mitral atresia" EXACT [MONDO:ambiguous] synonym: "mitral valve atresia" EXACT [NCIT:C98992] xref: GARD:0003685 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011560 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q23.2 {source="ORDO:1205/ntbt", source="Orphanet:1205", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q23.2 {source="Orphanet:1205", source="Orphanet:1205/ntbt", source="MONDO:directSiblingOf"} xref: NCIT:C98992 {source="MONDO:equivalentTo"} xref: Orphanet:1205 {source="MONDO:equivalentTo"} xref: SCTID:23063005 {source="MONDO:equivalentTo"} @@ -302933,7 +302774,7 @@ synonym: "Hamano-Tsukamoto syndrome" EXACT [Orphanet:1217] synonym: "infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms" RELATED [GARD:0004942] synonym: "spinal atrophy ophthalmoplegia pyramidal syndrome" RELATED [GARD:0004942] xref: GARD:0004942 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:1217/attributed", source="ORDO:1217/ntbt", source="Orphanet:1217"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:1217", source="Orphanet:1217/attributed", source="Orphanet:1217/ntbt"} xref: MESH:C535625 {source="MONDO:equivalentTo"} xref: Orphanet:1217 {source="MONDO:equivalentTo"} xref: UMLS:C2930956 {source="MONDO:equivalentTo", source="Orphanet:1217"} @@ -302989,26 +302830,26 @@ synonym: "inherited erythroblastopenia" EXACT [NCIT:C61236] synonym: "Red cell aplasia, pure hereditary" RELATED [GARD:0006274] xref: DOID:1339 {source="MONDO:equivalentTo"} xref: GARD:0006274 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="ORDO:124/inclusion", source="ORDO:124/ntbt", source="Orphanet:124"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:124/ntbt", source="Orphanet:124/inclusion", source="Orphanet:124"} xref: ICD10CM:D61.01 {source="DOID:1339"} -xref: MedDRA:10062989 {source="ORDO:124/e", source="Orphanet:124"} -xref: MESH:D029503 {source="MONDO:equivalentTo", source="DOID:1339", source="ORDO:124/e", source="Orphanet:124"} +xref: MedDRA:10062989 {source="Orphanet:124/e", source="Orphanet:124"} +xref: MESH:D029503 {source="Orphanet:124/e", source="MONDO:equivalentTo", source="DOID:1339", source="Orphanet:124"} xref: NCIT:C61236 {source="MONDO:equivalentTo", source="DOID:1339"} -xref: OMIM:105650 {source="MONDO:superClassOf", source="ORDO:124/e"} -xref: OMIM:300946 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:606129 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:606164 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:610629 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:612527 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:612528 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:612561 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:612562 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:612563 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:613308 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:613309 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:614900 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:615550 {source="MONDO:superClassOf", source="ORDO:124/btnt"} -xref: OMIM:615909 {source="MONDO:superClassOf", source="ORDO:124/btnt"} +xref: OMIM:105650 {source="Orphanet:124/e", source="MONDO:superClassOf"} +xref: OMIM:300946 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:606129 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:606164 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:610629 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:612527 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:612528 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:612561 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:612562 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:612563 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:613308 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:613309 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:614900 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:615550 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} +xref: OMIM:615909 {source="MONDO:superClassOf", source="Orphanet:124/btnt"} xref: OMIMPS:105650 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:equivalentTo", source="DOID:1339"} xref: SCTID:188588001 {source="DOID:1339"} @@ -303017,7 +302858,7 @@ xref: SCTID:191239005 {source="DOID:1339"} xref: SCTID:234371002 {source="DOID:1339"} xref: SCTID:88854002 {source="MONDO:equivalentTo", source="DOID:1339"} xref: UMLS:C0265265 {source="MONDO:equivalentTo"} -xref: UMLS:C1260899 {source="NCIT:C61236", source="MONDO:equivalentTo", source="DOID:1339", source="ORDO:124/e", source="Orphanet:124"} +xref: UMLS:C1260899 {source="NCIT:C61236", source="Orphanet:124/e", source="MONDO:equivalentTo", source="DOID:1339", source="Orphanet:124"} xref: UMLS:C2931850 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:124"} is_a: MONDO:0001705 {source="MESH:D029503", source="NCIT:C61236"} ! pure red-cell aplasia is_a: MONDO:0001713 {source="DOID:1339", source="MESH:D029503", source="Orphanet:124"} ! inherited aplastic anemia @@ -303038,24 +302879,24 @@ synonym: "snail fever" EXACT [NCIT:C35000] xref: DOID:1395 {source="MONDO:equivalentTo"} xref: EFO:1001475 {source="MONDO:equivalentTo"} xref: GARD:0009687 {source="MONDO:equivalentTo"} -xref: ICD10CM:B65.0 {source="ORDO:1247/btnt", source="Orphanet:1247"} -xref: ICD10CM:B65.1 {source="ORDO:1247/btnt", source="Orphanet:1247"} -xref: ICD10CM:B65.2 {source="ORDO:1247/btnt", source="Orphanet:1247"} -xref: ICD10CM:B65.3 {source="MONDO:superClassOf", source="ORDO:1247/btnt", source="Orphanet:1247"} -xref: ICD10CM:B65.8 {source="ORDO:1247/btnt", source="Orphanet:1247"} -xref: ICD10CM:B65.9 {source="ORDO:1247/btnt", source="Orphanet:1247"} +xref: ICD10CM:B65.0 {source="Orphanet:1247", source="Orphanet:1247/btnt"} +xref: ICD10CM:B65.1 {source="Orphanet:1247", source="Orphanet:1247/btnt"} +xref: ICD10CM:B65.2 {source="Orphanet:1247", source="Orphanet:1247/btnt"} +xref: ICD10CM:B65.3 {source="MONDO:superClassOf", source="Orphanet:1247", source="Orphanet:1247/btnt"} +xref: ICD10CM:B65.8 {source="Orphanet:1247", source="Orphanet:1247/btnt"} +xref: ICD10CM:B65.9 {source="Orphanet:1247", source="Orphanet:1247/btnt"} xref: ICD9:120.8 {source="DOID:1395", source="MONDO:relatedTo", source="i2s"} xref: ICD9:120.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10039603 {source="ORDO:1247/e", source="Orphanet:1247"} -xref: MESH:D012552 {source="ORDO:1247/e", source="MONDO:equivalentTo", source="Orphanet:1247"} +xref: MedDRA:10039603 {source="Orphanet:1247", source="Orphanet:1247/e"} +xref: MESH:D012552 {source="MONDO:equivalentTo", source="Orphanet:1247", source="Orphanet:1247/e"} xref: NCIT:C35000 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:181460 {source="MONDO:superClassOf", source="ORDO:1247/btnt", source="Orphanet:1247"} +xref: OMIM:181460 {source="MONDO:superClassOf", source="Orphanet:1247", source="Orphanet:1247/btnt"} xref: Orphanet:1247 {source="MONDO:equivalentTo"} xref: SCTID:10087007 {source="MONDO:equivalentTo"} xref: SCTID:187116001 {source="DOID:1395"} xref: SCTID:187121003 {source="DOID:1395"} xref: UMLS:C0029827 {source="DOID:1395", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0036323 {source="ORDO:1247/e", source="NCIT:C35000", source="MONDO:equivalentTo", source="Orphanet:1247"} +xref: UMLS:C0036323 {source="NCIT:C35000", source="MONDO:equivalentTo", source="Orphanet:1247", source="Orphanet:1247/e"} is_a: MONDO:0004664 {source="DOID:1395", source="MESH:D012552/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:1395/inferred", source="EFO:1001475", source="MESH:D012552/inferred", source="MONDO:Redundant", source="NCIT:C35000", source="Orphanet:1247", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -303073,7 +302914,7 @@ synonym: "Jorgenson-Lenz syndrome" EXACT [Orphanet:1256] synonym: "mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" RELATED [GARD:0003057] synonym: "ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism" RELATED [GARD:0003057] xref: GARD:0003057 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="Orphanet:1256", source="ORDO:1256/attributed", source="ORDO:1256/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:1256/attributed", source="Orphanet:1256/ntbt", source="Orphanet:1256"} xref: MESH:C536292 {source="MONDO:equivalentTo"} xref: Orphanet:1256 {source="MONDO:equivalentTo"} xref: UMLS:C2931162 {source="Orphanet:1256", source="MONDO:equivalentTo"} @@ -303094,7 +302935,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0015257 name: sino-auricular heart block subset: ordo_disease {source="Orphanet:1260"} -xref: ICD10CM:I45.5 {source="ORDO:1260/inclusion", source="Orphanet:1260", source="ORDO:1260/ntbt"} +xref: ICD10CM:I45.5 {source="Orphanet:1260/ntbt", source="Orphanet:1260/inclusion", source="Orphanet:1260"} xref: Orphanet:1260 {source="MONDO:equivalentTo"} xref: UMLS:CN199152 {source="MONDO:equivalentTo"} is_a: MONDO:0015110 {source="Orphanet:1260"} ! genetic cardiac rhythm disease @@ -303115,7 +302956,7 @@ synonym: "brachydactyly mesomelia intellectual disability aortic dilatation mitr synonym: "brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face" RELATED DEPRECATED [GARD:0005036] synonym: "Stratton-Garcia-Young syndrome" EXACT [Orphanet:1277] xref: GARD:0005036 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1277", source="ORDO:1277/attributed", source="ORDO:1277/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1277", source="Orphanet:1277/attributed", source="Orphanet:1277/ntbt"} xref: Orphanet:1277 {source="MONDO:equivalentTo"} xref: UMLS:CN199165 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1277", source="indirect"} ! syndromic intellectual disability @@ -303137,9 +302978,9 @@ synonym: "fish tapeworm" EXACT [DOID:10075] xref: DOID:10075 {source="EFO:0007238", source="MONDO:equivalentTo"} xref: EFO:0007238 {source="MONDO:equivalentTo"} xref: GARD:0000942 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:B70.0 {source="ORDO:128/e", source="Orphanet:128", source="MONDO:equivalentTo", source="DOID:10075"} +xref: ICD10CM:B70.0 {source="Orphanet:128", source="MONDO:equivalentTo", source="Orphanet:128/e", source="DOID:10075"} xref: ICD9:123.4 {source="DOID:10075"} -xref: MedDRA:10013029 {source="ORDO:128/e", source="Orphanet:128"} +xref: MedDRA:10013029 {source="Orphanet:128", source="Orphanet:128/e"} xref: MESH:D004169 {source="EFO:0007238", source="MONDO:equivalentTo", source="DOID:10075"} xref: NCIT:C128391 {source="MONDO:equivalentTo"} xref: Orphanet:128 {source="MONDO:equivalentTo"} @@ -303147,7 +302988,7 @@ xref: SCTID:187151009 {source="MONDO:equivalentTo", source="DOID:10075"} xref: SCTID:359799003 {source="DOID:10075"} xref: SCTID:49047003 {source="DOID:10075"} xref: UMLS:C0012561 {source="Orphanet:128", source="MONDO:equivalentTo", source="DOID:10075", source="NCIT:C128391"} -xref: UMLS:C0277032 {source="ORDO:128/e", source="Orphanet:128", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0277032 {source="Orphanet:128", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:128/e"} is_a: MONDO:0004664 {source="DOID:10075", source="ICD10CM:B70.0/inferred", source="MESH:D004169/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:10075/inferred", source="EFO:0007238", source="MESH:D004169/inferred", source="MONDO:Redundant", source="NCIT:C128391", source="Orphanet:128", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -303168,12 +303009,12 @@ synonym: "Brocq pseudopelade" RELATED [GARD:0004536] synonym: "pseudo pelade of Brocq" RELATED [GARD:0004536] synonym: "pseudo-pelade of Brocq" RELATED [GARD:0004536] xref: GARD:0004536 {source="MONDO:equivalentTo"} -xref: ICD10CM:L66.0 {source="Orphanet:129", source="ORDO:129/ntbt"} +xref: ICD10CM:L66.0 {source="Orphanet:129/ntbt", source="Orphanet:129"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C531609 {source="ORDO:129/e", source="MONDO:relatedTo", source="Orphanet:129"} +xref: MESH:C531609 {source="MONDO:relatedTo", source="Orphanet:129", source="Orphanet:129/e"} xref: Orphanet:129 {source="MONDO:equivalentTo"} xref: SCTID:238731001 {source="MONDO:equivalentTo"} -xref: UMLS:C0086873 {source="ORDO:129/e", source="Orphanet:129", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0086873 {source="Orphanet:129", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:129/e"} is_a: MONDO:0004907 {source="Orphanet:129", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq xsd:anyURI {source="GARD:0004536"} @@ -303186,16 +303027,16 @@ subset: ordo_group_of_disorders {source="Orphanet:1293"} synonym: "brachyrachia" EXACT [DOID:0050690] xref: DOID:0050690 {source="MONDO:equivalentTo"} xref: GARD:0010903 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q76.3 {source="Orphanet:1293", source="ORDO:1293/attributed", source="ORDO:1293/ntbt"} +xref: ICD10CM:Q76.3 {source="Orphanet:1293/attributed", source="Orphanet:1293/ntbt", source="Orphanet:1293"} xref: ICD9:756.19 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537098 {source="MONDO:equivalentTo", source="Orphanet:1293", source="ORDO:1293/e"} +xref: MESH:C537098 {source="Orphanet:1293/e", source="MONDO:equivalentTo", source="Orphanet:1293"} xref: OMIM:113500 {source="MONDO:superClassOf", source="DOID:0050690"} xref: OMIM:271530 {source="MONDO:superClassOf", source="DOID:0050690"} xref: OMIM:271630 {source="MONDO:superClassOf", source="DOID:0050690"} xref: OMIM:613678 {source="MONDO:superClassOf", source="DOID:0050690"} xref: Orphanet:1293 {source="MONDO:equivalentTo", source="DOID:0050690"} xref: SCTID:254088006 {source="MONDO:equivalentTo"} -xref: UMLS:C0432228 {source="MONDO:equivalentTo", source="Orphanet:1293", source="ORDO:1293/e"} +xref: UMLS:C0432228 {source="Orphanet:1293/e", source="MONDO:equivalentTo", source="Orphanet:1293"} is_a: MONDO:0005516 {source="DOID:0050690", source="MESH:C537098"} ! osteochondrodysplasia is_a: MONDO:0019694 {source="Orphanet:1293"} ! spondylodysplastic dysplasia @@ -303205,37 +303046,37 @@ name: Brugada syndrome def: "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." [NCIT:C142891] subset: clingen subset: ordo_disease {source="Orphanet:130"} -synonym: "Bangungut" EXACT [DOID:0050451, ORDO:130, Orphanet:130] +synonym: "Bangungut" EXACT [DOID:0050451, Orphanet:130] synonym: "Brugada syndrome" EXACT CLINGEN_PREFERRED [NCIT:C142891] -synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [DOID:0050451, ORDO:130] -synonym: "dream disease" EXACT [DOID:0050451, ORDO:130, Orphanet:130] +synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [DOID:0050451, Orphanet:130] +synonym: "dream disease" EXACT [DOID:0050451, Orphanet:130] synonym: "idiopathic ventricular fibrillation, Brugada type" EXACT [Orphanet:130] -synonym: "Pokkuri death syndrome" EXACT [DOID:0050451, ORDO:130, Orphanet:130] +synonym: "Pokkuri death syndrome" EXACT [DOID:0050451, Orphanet:130] synonym: "right bundle branch block, ST segment elevation, and sudden death syndrome" EXACT [NCIT:C142891] synonym: "sudden unexpected nocturnal death syndrome" RELATED [GARD:0001030] -synonym: "sudden unexplained nocturnal death syndrome" EXACT [DOID:0050451, ORDO:130, Orphanet:130] -synonym: "SUNDS" EXACT ABBREVIATION [DOID:0050451, ORDO:130, Orphanet:130] +synonym: "sudden unexplained nocturnal death syndrome" EXACT [DOID:0050451, Orphanet:130] +synonym: "SUNDS" EXACT ABBREVIATION [DOID:0050451, Orphanet:130] xref: DOID:0050451 {source="MONDO:equivalentTo"} xref: GARD:0001030 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I49.8 {source="DOID:0050451", source="ORDO:130/e", source="Orphanet:130", source="ORDO:130/inclusion"} +xref: ICD10CM:I49.8 {source="DOID:0050451", source="Orphanet:130/e", source="Orphanet:130/inclusion", source="Orphanet:130"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059027 {source="ORDO:130/e", source="Orphanet:130"} -xref: MESH:D053840 {source="DOID:0050451", source="MONDO:equivalentTo", source="ORDO:130/e", source="Orphanet:130"} +xref: MedDRA:10059027 {source="Orphanet:130/e", source="Orphanet:130"} +xref: MESH:D053840 {source="DOID:0050451", source="Orphanet:130/e", source="MONDO:equivalentTo", source="Orphanet:130"} xref: NCIT:C142891 {source="MONDO:equivalentTo"} xref: NCIT:C71059 {source="DOID:0050451", source="MONDO:otherHierarchy"} -xref: OMIM:601144 {source="ORDO:130/e", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:611777 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:611875 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:611876 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:612838 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:613119 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:613120 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:613123 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} -xref: OMIM:616399 {source="ORDO:130/btnt", source="MONDO:superClassOf", source="Orphanet:130"} +xref: OMIM:601144 {source="Orphanet:130/e", source="MONDO:superClassOf", source="Orphanet:130"} +xref: OMIM:611777 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:611875 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:611876 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:612838 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:613119 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:613120 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:613123 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} +xref: OMIM:616399 {source="MONDO:superClassOf", source="Orphanet:130/btnt", source="Orphanet:130"} xref: OMIMPS:601144 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:130 {source="DOID:0050451", source="MONDO:equivalentTo"} xref: SCTID:418818005 {source="DOID:0050451", source="MONDO:equivalentTo"} -xref: UMLS:C1142166 {source="DOID:0050451", source="MONDO:equivalentTo", source="ORDO:130/e", source="Orphanet:130"} +xref: UMLS:C1142166 {source="DOID:0050451", source="Orphanet:130/e", source="MONDO:equivalentTo", source="Orphanet:130"} xref: UMLS:C1721096 {source="DOID:0050451", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1955837 {source="DOID:0050451", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:130"} is_a: MONDO:0000992 {source="DOID:0050451", source="MONDO:Redundant", source="indirect"} ! heart conduction disease @@ -303258,10 +303099,10 @@ synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [ xref: DOID:0050157 {source="MONDO:equivalentTo"} xref: EFO:1001300 {source="MONDO:equivalentTo"} xref: GARD:0001620 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:J84.1 {source="ORDO:1302/ntbt", source="Orphanet:1302"} +xref: ICD10CM:J84.1 {source="Orphanet:1302", source="Orphanet:1302/ntbt"} xref: ICD10CM:J84.116 {source="DOID:0050157", source="MONDO:equivalentTo"} xref: ICD9:516.36 {source="DOID:0050157"} -xref: MESH:D018549 {source="DOID:0050157", source="ORDO:1302/e", source="MONDO:equivalentTo", source="Orphanet:1302"} +xref: MESH:D018549 {source="DOID:0050157", source="MONDO:equivalentTo", source="Orphanet:1302", source="Orphanet:1302/e"} xref: NCIT:C62586 {source="DOID:0050157", source="MONDO:equivalentTo"} xref: Orphanet:1302 {source="MONDO:equivalentTo"} xref: SCTID:129458007 {source="DOID:0050157"} @@ -303334,11 +303175,11 @@ synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [DOID:0060464, Orphan synonym: "ODED syndrome" EXACT [DOID:0060464, Orphanet:1305] xref: DOID:0060464 {source="MONDO:equivalentTo"} xref: GARD:0008407 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="DOID:0060464", source="ORDO:1305/attributed", source="ORDO:1305/ntbt", source="Orphanet:1305"} +xref: ICD10CM:Q87.8 {source="DOID:0060464", source="Orphanet:1305", source="Orphanet:1305/attributed", source="Orphanet:1305/ntbt"} xref: MESH:C537734 {source="DOID:0060464"} xref: NCIT:C74987 {source="MONDO:equivalentTo"} -xref: OMIM:164280 {source="DOID:0060464", source="ORDO:1305/btnt", source="MONDO:superClassOf", source="Orphanet:1305"} -xref: OMIM:614326 {source="DOID:0060464", source="ORDO:1305/btnt", source="MONDO:superClassOf", source="Orphanet:1305"} +xref: OMIM:164280 {source="DOID:0060464", source="MONDO:superClassOf", source="Orphanet:1305", source="Orphanet:1305/btnt"} +xref: OMIM:614326 {source="DOID:0060464", source="MONDO:superClassOf", source="Orphanet:1305", source="Orphanet:1305/btnt"} xref: OMIMPS:164280 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1305 {source="DOID:0060464", source="MONDO:equivalentTo"} xref: UMLS:C0796068 {source="NCIT:C74987", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1305"} @@ -303370,15 +303211,15 @@ synonym: "Precalicial canalicular ectasia" EXACT [Orphanet:1309] synonym: "Precalyceal canalicular ectasia" RELATED [GARD:0000232] synonym: "sponge kidney" RELATED [GARD:0000232] xref: GARD:0000232 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q61.5 {source="ORDO:1309/inclusion", source="Orphanet:1309", source="ORDO:1309/ntbt"} +xref: ICD10CM:Q61.5 {source="Orphanet:1309/ntbt", source="Orphanet:1309/inclusion", source="Orphanet:1309"} xref: ICD9:753.17 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10027104 {source="Orphanet:1309", source="ORDO:1309/e"} -xref: MESH:D007691 {source="MONDO:equivalentTo", source="Orphanet:1309", source="ORDO:1309/e"} +xref: MedDRA:10027104 {source="Orphanet:1309/e", source="Orphanet:1309"} +xref: MESH:D007691 {source="Orphanet:1309/e", source="MONDO:equivalentTo", source="Orphanet:1309"} xref: NCIT:C34751 {source="MONDO:equivalentTo"} xref: OMIM:174000 {source="GARD:0000232", source="MONDO:directSiblingOf"} xref: Orphanet:1309 {source="MONDO:equivalentTo"} xref: SCTID:236443009 {source="MONDO:equivalentTo"} -xref: UMLS:C0022681 {source="MONDO:equivalentTo", source="NCIT:C34751", source="Orphanet:1309", source="ORDO:1309/e"} +xref: UMLS:C0022681 {source="Orphanet:1309/e", source="MONDO:equivalentTo", source="NCIT:C34751", source="Orphanet:1309"} is_a: MONDO:0002473 {source="MESH:D007691", source="NCIT:C34751", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystic kidney disease is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! kidney disorder is_a: MONDO:0019720 {source="Orphanet:1309"} ! non-syndromic renal or urinary tract malformation @@ -303394,7 +303235,7 @@ subset: gard_rare {source="GARD:0005070"} subset: ordo_disease {source="Orphanet:1314"} synonym: "bilateral symmetrical thalamic gliosis" EXACT [Orphanet:1314] xref: GARD:0005070 {source="MONDO:equivalentTo"} -xref: ICD10CM:G93.8 {source="ORDO:1314/ntbt", source="Orphanet:1314"} +xref: ICD10CM:G93.8 {source="Orphanet:1314", source="Orphanet:1314/ntbt"} xref: Orphanet:1314 {source="MONDO:equivalentTo"} xref: SCTID:719164000 {source="MONDO:equivalentTo"} xref: UMLS:C4304914 {source="MONDO:equivalentTo"} @@ -303421,11 +303262,11 @@ synonym: "succinylcholine sensitivity" RELATED [GARD:0007482] synonym: "Suxamethonium sensitivity" RELATED [GARD:0007482, OMIM:617936] xref: GARD:0007482 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537417 {source="MONDO:equivalentTo", source="ORDO:132/e", source="Orphanet:132"} +xref: MESH:C537417 {source="Orphanet:132/e", source="MONDO:equivalentTo", source="Orphanet:132"} xref: OMIM:617936 {source="MONDO:equivalentTo"} xref: Orphanet:132 {source="MONDO:equivalentTo", source="OMIM:617936"} xref: SCTID:191397007 {source="MONDO:equivalentTo"} -xref: UMLS:C1283400 {source="MONDO:equivalentTo", source="ORDO:132/e", source="Orphanet:132"} +xref: UMLS:C1283400 {source="Orphanet:132/e", source="MONDO:equivalentTo", source="Orphanet:132"} is_a: MONDO:0019253 {source="Orphanet:132"} ! metabolic disease involving other neurotransmitter deficiency relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -303441,12 +303282,12 @@ synonym: "camptocormism" RELATED [GARD:0001063] synonym: "idiopathic camptocormism" EXACT [Orphanet:1320] synonym: "idiopathic progressive lumbar kyphosis" EXACT [Orphanet:1320] xref: GARD:0001063 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M43.8 {source="Orphanet:1320", source="ORDO:1320/ntbt"} -xref: MedDRA:10069646 {source="ORDO:1320/e", source="Orphanet:1320"} -xref: MESH:C537968 {source="ORDO:1320/e", source="Orphanet:1320", source="MONDO:equivalentTo"} +xref: ICD10CM:M43.8 {source="Orphanet:1320/ntbt", source="Orphanet:1320"} +xref: MedDRA:10069646 {source="Orphanet:1320", source="Orphanet:1320/e"} +xref: MESH:C537968 {source="Orphanet:1320", source="MONDO:equivalentTo", source="Orphanet:1320/e"} xref: Orphanet:1320 {source="MONDO:equivalentTo"} xref: SCTID:13534001 {source="MONDO:equivalentTo"} -xref: UMLS:C0264162 {source="ORDO:1320/e", source="Orphanet:1320", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0264162 {source="Orphanet:1320", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1320/e"} is_a: MONDO:0016105 {source="Orphanet:1320"} ! acquired skeletal muscle disease relationship: has_modifier MONDO:0700005 ! idiopathic @@ -303460,12 +303301,12 @@ synonym: "camptodactyly taurinuria" RELATED [GARD:0001069] synonym: "camptodactyly with taurinuria" RELATED [GARD:0001069] synonym: "familial streblodactyly with amino-aciduria" EXACT [Orphanet:1325] xref: GARD:0001069 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.1 {source="ORDO:1325/attributed", source="ORDO:1325/ntbt", source="Orphanet:1325"} -xref: MESH:C537972 {source="MONDO:equivalentTo", source="Orphanet:1325", source="ORDO:1325/e"} +xref: ICD10CM:Q68.1 {source="Orphanet:1325", source="Orphanet:1325/attributed", source="Orphanet:1325/ntbt"} +xref: MESH:C537972 {source="MONDO:equivalentTo", source="Orphanet:1325", source="Orphanet:1325/e"} xref: OMIM:114200 {source="GARD:0001069", source="MONDO:relatedTo"} xref: Orphanet:1325 {source="MONDO:equivalentTo"} xref: SCTID:733466005 {source="MONDO:equivalentTo"} -xref: UMLS:C2931681 {source="GARD:0001069", source="MONDO:equivalentTo", source="Orphanet:1325", source="ORDO:1325/e"} +xref: UMLS:C2931681 {source="GARD:0001069", source="MONDO:equivalentTo", source="Orphanet:1325", source="Orphanet:1325/e"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation is_a: MONDO:0021147 {source="Orphanet:1325", source="Orphanet:1325/inferred"} ! disorder of development or morphogenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -303480,13 +303321,13 @@ synonym: "CAVC" EXACT ABBREVIATION [Orphanet:1329] synonym: "common atrioventricular canal" EXACT [Orphanet:1329] synonym: "complete atrioventricular septal defect" EXACT [Orphanet:1329] xref: GARD:0001454 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.2 {source="ORDO:1329/inclusion", source="ORDO:1329/ntbt", source="Orphanet:1329"} +xref: ICD10CM:Q21.2 {source="Orphanet:1329/inclusion", source="Orphanet:1329", source="Orphanet:1329/ntbt"} xref: ICD9:745.69 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535974 {source="MONDO:equivalentTo"} xref: Orphanet:1329 {source="MONDO:equivalentTo"} xref: SCTID:360481003 {source="MONDO:equivalentTo"} -xref: UMLS:C0221215 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1329", source="ORDO:1329/e"} -xref: UMLS:C0344787 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1329", source="ORDO:1329/e"} +xref: UMLS:C0221215 {source="Orphanet:1329/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1329"} +xref: UMLS:C0344787 {source="Orphanet:1329/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1329"} is_a: MONDO:0017131 {source="Orphanet:1329"} ! genetic cardiac anomaly is_a: MONDO:0020290 {source="Orphanet:1329", source="linkedlifedata"} ! atrioventricular septal defect property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal xsd:anyURI {source="GARD:0001454"} @@ -303509,15 +303350,15 @@ synonym: "Subacute berylliosis" RELATED [GARD:0000867] xref: DOID:10322 {source="MONDO:equivalentTo", source="EFO:0007168"} xref: EFO:0007168 {source="MONDO:equivalentTo"} xref: GARD:0000867 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:J63.2 {source="ORDO:133/e", source="Orphanet:133", source="DOID:10322"} +xref: ICD10CM:J63.2 {source="Orphanet:133/e", source="Orphanet:133", source="DOID:10322"} xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10004485 {source="ORDO:133/e", source="Orphanet:133"} -xref: MESH:D001607 {source="MONDO:equivalentTo", source="ORDO:133/e", source="Orphanet:133", source="DOID:10322", source="EFO:0007168"} +xref: MedDRA:10004485 {source="Orphanet:133/e", source="Orphanet:133"} +xref: MESH:D001607 {source="Orphanet:133/e", source="MONDO:equivalentTo", source="Orphanet:133", source="DOID:10322", source="EFO:0007168"} xref: Orphanet:133 {source="MONDO:equivalentTo"} xref: SCTID:18121009 {source="MONDO:equivalentTo"} xref: SCTID:8247009 {source="DOID:10322"} xref: UMLS:C0005138 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:133", source="DOID:10322"} -xref: UMLS:C0221052 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:133/e", source="Orphanet:133"} +xref: UMLS:C0221052 {source="Orphanet:133/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:133"} is_a: MONDO:0015926 {source="DOID:10322", source="EFO:0007168", source="MESH:D001607", source="MONDO:Redundant", source="Orphanet:133"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus CHEBI:33780 ! beryllium molecular entity @@ -303534,12 +303375,12 @@ synonym: "partial AVSD" RELATED [GARD:0004229] synonym: "partial common atrioventricular canal" RELATED [GARD:0004229] synonym: "PAVC" EXACT ABBREVIATION [Orphanet:1330] xref: GARD:0004229 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.2 {source="Orphanet:1330", source="ORDO:1330/ntbt"} -xref: MESH:C536112 {source="Orphanet:1330", source="ORDO:1330/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q21.2 {source="Orphanet:1330", source="Orphanet:1330/ntbt"} +xref: MESH:C536112 {source="Orphanet:1330", source="MONDO:equivalentTo", source="Orphanet:1330/e"} xref: OMIM:600309 {source="GARD:0004229", source="MONDO:directSiblingOf"} xref: Orphanet:1330 {source="MONDO:equivalentTo"} xref: SCTID:718216009 {source="MONDO:equivalentTo"} -xref: UMLS:C0344735 {source="Orphanet:1330", source="ORDO:1330/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0344735 {source="Orphanet:1330", source="Orphanet:1330/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020290 {source="Orphanet:1330"} ! atrioventricular septal defect property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal xsd:anyURI {source="GARD:0004229"} @@ -303580,9 +303421,9 @@ synonym: "ultimobranchial thyroid tumour" EXACT [DOID:3973] xref: DOID:3973 {source="MONDO:equivalentTo"} xref: GARD:0007004 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0002865 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C73 {source="Orphanet:1332", source="ORDO:1332/ntbt"} -xref: MedDRA:10027101 {source="Orphanet:1332", source="ORDO:1332/e"} -xref: MESH:C536914 {source="Orphanet:1332", source="ORDO:1332/e", source="DOID:3973"} +xref: ICD10CM:C73 {source="Orphanet:1332", source="Orphanet:1332/ntbt"} +xref: MedDRA:10027101 {source="Orphanet:1332", source="Orphanet:1332/e"} +xref: MESH:C536914 {source="Orphanet:1332", source="DOID:3973", source="Orphanet:1332/e"} xref: NCIT:C3879 {source="DOID:3973", source="MONDO:equivalentTo"} xref: ONCOTREE:THME {source="MONDO:equivalentTo"} xref: Orphanet:1332 {source="MONDO:equivalentTo"} @@ -303590,7 +303431,7 @@ xref: SCTID:128916007 {source="DOID:3973"} xref: SCTID:255032005 {source="DOID:3973", source="MONDO:equivalentTo"} xref: SCTID:32913002 {source="DOID:3973"} xref: UMLS:C0206693 {source="MONDO:equivalentTo"} -xref: UMLS:C0238462 {source="Orphanet:1332", source="ORDO:1332/e", source="DOID:3973", source="MONDO:equivalentTo", source="NCIT:C3879"} +xref: UMLS:C0238462 {source="Orphanet:1332", source="DOID:3973", source="MONDO:equivalentTo", source="Orphanet:1332/e", source="NCIT:C3879"} is_a: MONDO:0002120 {source="NCIT:C3879"} ! neuroendocrine carcinoma is_a: MONDO:0005034 {source="DOID:3973"} ! thyroid gland follicular carcinoma is_a: MONDO:0015075 {source="DOID:3973/inferred", source="MONDO:Entailed", source="NCIT:C3879", source="Orphanet:1332", source="indirect"} ! thyroid gland carcinoma @@ -303613,18 +303454,18 @@ synonym: "pancreatic acinar carcinoma" RELATED [OMIM:260350] synonym: "pancreatic cancer, somatic" EXACT [OMIM:260350, OMIM:genemap2] synonym: "pancreatic carcinoma, somatic" EXACT [OMIM:260350, OMIM:genemap2] xref: GARD:0004206 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C25 {source="Orphanet:1333", source="ORDO:1333/ntbt", source="ORDO:1333/inclusion"} -xref: MESH:C535837 {source="ORDO:1333/e", source="Orphanet:1333", source="MONDO:equivalentTo"} +xref: ICD10CM:C25 {source="Orphanet:1333/inclusion", source="Orphanet:1333/ntbt", source="Orphanet:1333"} +xref: MESH:C535837 {source="Orphanet:1333", source="MONDO:equivalentTo", source="Orphanet:1333/e"} xref: NCIT:C43298 {source="MONDO:equivalentTo"} -xref: OMIM:260350 {source="Orphanet:1333", source="MONDO:equivalentTo", source="ORDO:1333/ntbt"} -xref: OMIM:606856 {source="Orphanet:1333", source="MONDO:superClassOf", source="ORDO:1333/btnt"} -xref: OMIM:613347 {source="Orphanet:1333", source="MONDO:superClassOf", source="ORDO:1333/btnt"} -xref: OMIM:613348 {source="Orphanet:1333", source="MONDO:superClassOf", source="ORDO:1333/btnt"} -xref: OMIM:614320 {source="Orphanet:1333", source="MONDO:superClassOf", source="ORDO:1333/btnt"} +xref: OMIM:260350 {source="Orphanet:1333/ntbt", source="Orphanet:1333", source="MONDO:equivalentTo"} +xref: OMIM:606856 {source="Orphanet:1333/btnt", source="Orphanet:1333", source="MONDO:superClassOf"} +xref: OMIM:613347 {source="Orphanet:1333/btnt", source="Orphanet:1333", source="MONDO:superClassOf"} +xref: OMIM:613348 {source="Orphanet:1333/btnt", source="Orphanet:1333", source="MONDO:superClassOf"} +xref: OMIM:614320 {source="Orphanet:1333/btnt", source="Orphanet:1333", source="MONDO:superClassOf"} xref: Orphanet:1333 {source="MONDO:equivalentTo"} xref: SCTID:715414009 {source="MONDO:equivalentTo"} xref: UMLS:C0235974 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} -xref: UMLS:C2931038 {source="ORDO:1333/e", source="Orphanet:1333", source="MONDO:equivalentTo", source="NCIT:C43298"} +xref: UMLS:C2931038 {source="Orphanet:1333", source="MONDO:equivalentTo", source="NCIT:C43298", source="Orphanet:1333/e"} is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:1333"} ! pancreas disorder is_a: MONDO:0005192 {source="MONDO:Redundant", source="NCIT:C43298", source="Orphanet:1333", source="indirect"} ! exocrine pancreatic carcinoma intersection_of: MONDO:0005192 ! exocrine pancreatic carcinoma @@ -303646,25 +303487,25 @@ synonym: "familial chronic mucocutaneous candidiasis" EXACT [MONDO:0024486] synonym: "familial CMC" EXACT [MONDO:cjm] xref: DOID:2058 {source="MONDO:equivalentTo"} xref: HP:0002728 {source="MONDO:otherHierarchy"} -xref: ICD10CM:B37.2 {source="Orphanet:1334", source="ORDO:1334/attributed", source="ORDO:1334/ntbt"} -xref: MedDRA:10009007 {source="Orphanet:1334", source="ORDO:1334/e"} -xref: MESH:D002178 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/e", source="MONDO:equivalentTo"} +xref: ICD10CM:B37.2 {source="Orphanet:1334/attributed", source="Orphanet:1334/ntbt", source="Orphanet:1334"} +xref: MedDRA:10009007 {source="Orphanet:1334", source="Orphanet:1334/e"} +xref: MESH:D002178 {source="Orphanet:1334", source="DOID:2058", source="MONDO:equivalentTo", source="Orphanet:1334/e"} xref: NCIT:C34444 {source="DOID:2058", source="MONDO:equivalentTo"} -xref: OMIM:114580 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/e", source="MONDO:superClassOf"} +xref: OMIM:114580 {source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf", source="Orphanet:1334/e"} xref: OMIM:212050 {source="DOID:2058", source="MONDO:superClassOf"} -xref: OMIM:247650 {source="Orphanet:1334", source="ORDO:1334/btnt", source="MONDO:superClassOf"} -xref: OMIM:252250 {source="Orphanet:1334", source="ORDO:1334/btnt", source="MONDO:superClassOf"} -xref: OMIM:607644 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/btnt", source="MONDO:superClassOf"} -xref: OMIM:613108 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/btnt", source="MONDO:superClassOf"} -xref: OMIM:613953 {source="MONDO:relatedTo", source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/btnt", source="MONDO:superClassOf"} -xref: OMIM:613956 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/btnt", source="MONDO:superClassOf"} +xref: OMIM:247650 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="MONDO:superClassOf"} +xref: OMIM:252250 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="MONDO:superClassOf"} +xref: OMIM:607644 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf"} +xref: OMIM:613108 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf"} +xref: OMIM:613953 {source="Orphanet:1334/btnt", source="MONDO:relatedTo", source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf"} +xref: OMIM:613956 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf"} xref: OMIM:614162 {source="DOID:2058", source="MONDO:superClassOf"} -xref: OMIM:615527 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/btnt", source="MONDO:superClassOf"} -xref: OMIM:616445 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/btnt", source="MONDO:superClassOf"} +xref: OMIM:615527 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf"} +xref: OMIM:616445 {source="Orphanet:1334/btnt", source="Orphanet:1334", source="DOID:2058", source="MONDO:superClassOf"} xref: OMIMPS:114580 {source="MONDO:equivalentTo"} xref: Orphanet:1334 {source="DOID:2058", source="MONDO:equivalentTo"} xref: SCTID:234568006 {source="DOID:2058", source="MONDO:equivalentTo"} -xref: UMLS:C0006845 {source="Orphanet:1334", source="DOID:2058", source="ORDO:1334/e", source="MONDO:equivalentTo", source="NCIT:C34444"} +xref: UMLS:C0006845 {source="Orphanet:1334", source="DOID:2058", source="MONDO:equivalentTo", source="NCIT:C34444", source="Orphanet:1334/e"} is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0005093 ! skin disorder is_a: MONDO:0015979 {source="Orphanet:1334"} ! hereditary predisposition to infections @@ -303689,17 +303530,17 @@ synonym: "CFC syndrome" EXACT [DOID:0060233, Orphanet:1340] synonym: "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure" RELATED [GARD:0009146] xref: DOID:0060233 {source="MONDO:equivalentTo"} xref: GARD:0009146 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1340", source="DOID:0060233", source="ORDO:1340/attributed", source="ORDO:1340/ntbt"} -xref: MESH:C535579 {source="Orphanet:1340", source="MONDO:equivalentTo", source="ORDO:1340/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:1340", source="DOID:0060233", source="Orphanet:1340/attributed", source="Orphanet:1340/ntbt"} +xref: MESH:C535579 {source="Orphanet:1340", source="MONDO:equivalentTo", source="Orphanet:1340/e"} xref: NCIT:C84617 {source="MONDO:equivalentTo"} -xref: OMIM:115150 {source="Orphanet:1340", source="DOID:0060233", source="MONDO:superClassOf", source="ORDO:1340/e"} -xref: OMIM:615278 {source="Orphanet:1340", source="DOID:0060233", source="MONDO:superClassOf", source="ORDO:1340/btnt"} -xref: OMIM:615279 {source="Orphanet:1340", source="DOID:0060233", source="MONDO:superClassOf", source="ORDO:1340/btnt"} -xref: OMIM:615280 {source="Orphanet:1340", source="DOID:0060233", source="MONDO:superClassOf", source="ORDO:1340/btnt"} +xref: OMIM:115150 {source="Orphanet:1340", source="DOID:0060233", source="MONDO:superClassOf", source="Orphanet:1340/e"} +xref: OMIM:615278 {source="Orphanet:1340", source="DOID:0060233", source="Orphanet:1340/btnt", source="MONDO:superClassOf"} +xref: OMIM:615279 {source="Orphanet:1340", source="DOID:0060233", source="Orphanet:1340/btnt", source="MONDO:superClassOf"} +xref: OMIM:615280 {source="Orphanet:1340", source="DOID:0060233", source="Orphanet:1340/btnt", source="MONDO:superClassOf"} xref: OMIMPS:115150 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="DOID:0060233", source="MONDO:equivalentTo"} xref: SCTID:403770008 {source="MONDO:equivalentTo"} -xref: UMLS:C1275081 {source="Orphanet:1340", source="MONDO:equivalentTo", source="NCIT:C84617", source="ORDO:1340/e"} +xref: UMLS:C1275081 {source="Orphanet:1340", source="MONDO:equivalentTo", source="NCIT:C84617", source="Orphanet:1340/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1340", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:0060233", source="MONDO:Redundant", source="NCIT:C84617", source="indirect"} ! syndromic disease is_a: MONDO:0005045 ! hypertrophic cardiomyopathy @@ -303717,10 +303558,10 @@ name: atrial standstill def: "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." [Orphanet:1344] subset: ordo_disease {source="Orphanet:1344"} synonym: "atrial cardiomyopathy with heart block" EXACT [Orphanet:1344] -xref: ICD10CM:I45.5 {source="Orphanet:1344", source="ORDO:1344/attributed", source="ORDO:1344/ntbt"} +xref: ICD10CM:I45.5 {source="Orphanet:1344/attributed", source="Orphanet:1344/ntbt", source="Orphanet:1344"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:108770 {source="Orphanet:1344", source="MONDO:superClassOf", source="ORDO:1344/btnt"} -xref: OMIM:615745 {source="Orphanet:1344", source="MONDO:superClassOf", source="ORDO:1344/btnt"} +xref: OMIM:108770 {source="Orphanet:1344/btnt", source="Orphanet:1344", source="MONDO:superClassOf"} +xref: OMIM:615745 {source="Orphanet:1344/btnt", source="Orphanet:1344", source="MONDO:superClassOf"} xref: Orphanet:1344 {source="MONDO:equivalentTo"} xref: SCTID:450919004 {source="MONDO:equivalentTo"} xref: UMLS:C0541782 {source="Orphanet:1344", source="MONDO:notFoundInDiseaseSubset"} @@ -303744,7 +303585,7 @@ xref: GARD:0001102 {source="MONDO:equivalentTo"} xref: MESH:C537616 {source="MONDO:equivalentTo"} xref: Orphanet:1345 {source="GARD:0001102", source="MONDO:equivalentTo"} xref: SCTID:720609003 {source="MONDO:equivalentTo"} -xref: UMLS:C2931548 {source="Orphanet:1345", source="ORDO:1345/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931548 {source="Orphanet:1345", source="MONDO:equivalentTo", source="Orphanet:1345/e"} is_a: MONDO:0002254 {source="Orphanet:1345"} ! syndromic disease relationship: disease_has_major_feature HP:0000518 {source="Orphanet:1345"} ! Cataract relationship: disease_has_major_feature HP:0001644 {source="Orphanet:1345"} ! Dilated cardiomyopathy @@ -303760,7 +303601,7 @@ def: "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial di subset: ordo_malformation_syndrome {source="Orphanet:1349"} synonym: "maternally-inherited cardiomyopathy and deafness" EXACT [Orphanet:1349] synonym: "tRNA-LYS-related cardiomyopathy-hearing loss syndrome" EXACT [Orphanet:1349] -xref: ICD10CM:I42.8 {source="ORDO:1349/attributed", source="ORDO:1349/ntbt", source="Orphanet:1349"} +xref: ICD10CM:I42.8 {source="Orphanet:1349", source="Orphanet:1349/attributed", source="Orphanet:1349/ntbt"} xref: Orphanet:1349 {source="MONDO:equivalentTo"} xref: UMLS:CN199218 {source="MONDO:equivalentTo"} is_a: MONDO:0044970 {source="Orphanet:1349", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease @@ -303774,7 +303615,7 @@ synonym: "atriodigital dysplasia type 2" EXACT [Orphanet:1350] synonym: "heart-hand syndrome 2" RELATED [GARD:0009847] synonym: "Tabatznik syndrome" EXACT [Orphanet:1350] xref: GARD:0009847 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.2 {source="ORDO:1350/attributed", source="ORDO:1350/ntbt", source="Orphanet:1350"} +xref: ICD10CM:Q87.2 {source="Orphanet:1350/attributed", source="Orphanet:1350/ntbt", source="Orphanet:1350"} xref: MESH:C536784 {source="MONDO:equivalentTo"} xref: Orphanet:1350 {source="MONDO:equivalentTo"} xref: SCTID:721010003 {source="MONDO:equivalentTo"} @@ -303806,18 +303647,18 @@ synonym: "NAME syndrome" EXACT [DOID:0050471] synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT [NCIT:C4705] xref: DOID:0050471 {source="MONDO:equivalentTo"} xref: GARD:0001119 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D44.8 {source="MONDO:relatedTo", source="ORDO:1359/attributed", source="ORDO:1359/ntbt", source="Orphanet:1359"} -xref: MESH:D056733 {source="MONDO:equivalentTo", source="ORDO:1359/e", source="Orphanet:1359", source="DOID:0050471"} +xref: ICD10CM:D44.8 {source="MONDO:relatedTo", source="Orphanet:1359", source="Orphanet:1359/attributed", source="Orphanet:1359/ntbt"} +xref: MESH:D056733 {source="MONDO:equivalentTo", source="Orphanet:1359", source="DOID:0050471", source="Orphanet:1359/e"} xref: NCIT:C4705 {source="MONDO:equivalentTo", source="DOID:0050471"} -xref: OMIM:160980 {source="ORDO:1359/btnt", source="MONDO:superClassOf", source="Orphanet:1359", source="DOID:0050471"} -xref: OMIM:605244 {source="ORDO:1359/btnt", source="MONDO:superClassOf", source="Orphanet:1359", source="DOID:0050471"} +xref: OMIM:160980 {source="MONDO:superClassOf", source="Orphanet:1359", source="Orphanet:1359/btnt", source="DOID:0050471"} +xref: OMIM:605244 {source="MONDO:superClassOf", source="Orphanet:1359", source="Orphanet:1359/btnt", source="DOID:0050471"} xref: OMIM:608837 {source="MONDO:superClassOf", source="DOID:0050471"} xref: Orphanet:1359 {source="MONDO:equivalentTo", source="DOID:0050471"} xref: SCTID:239132009 {source="DOID:0050471"} xref: SCTID:733491005 {source="MONDO:equivalentTo"} -xref: UMLS:C0406810 {source="NCIT:C4705", source="MONDO:equivalentTo", source="ORDO:1359/e", source="Orphanet:1359", source="DOID:0050471"} +xref: UMLS:C0406810 {source="NCIT:C4705", source="MONDO:equivalentTo", source="Orphanet:1359", source="DOID:0050471", source="Orphanet:1359/e"} xref: UMLS:C1854540 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050471"} -xref: UMLS:C2607929 {source="ORDO:1359/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1359", source="DOID:0050471"} +xref: UMLS:C2607929 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1359", source="DOID:0050471", source="Orphanet:1359/e"} is_a: MONDO:0000426 {source="DOID:0050471", source="MONDO:Redundant"} ! autosomal dominant disease relationship: disease_has_feature MONDO:0015077 {source="Orphanet:1359"} ! adrenal/paraganglial tumor relationship: disease_has_feature MONDO:0015079 {source="Orphanet:1359"} ! multiple polyglandular tumor @@ -303842,14 +303683,14 @@ synonym: "congenital disorder of glycosylation" EXACT CLINGEN_PREFERRED [] synonym: "congenital disorders of glycosylation" RELATED [GARD:0010307] xref: DOID:5212 {source="MONDO:equivalentTo"} xref: GARD:0010307 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:137", source="ORDO:137/attributed", source="ORDO:137/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:137", source="Orphanet:137/attributed", source="Orphanet:137/ntbt"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D018981 {source="DOID:5212", source="MONDO:equivalentTo"} xref: NCIT:C84615 {source="DOID:5212", source="MONDO:equivalentTo"} xref: OMIMPS:212065 {source="DOID:5212"} xref: Orphanet:137 {source="DOID:5212", source="MONDO:equivalentTo"} xref: SCTID:238049009 {source="DOID:5212", source="MONDO:equivalentTo"} -xref: UMLS:C0282577 {source="DOID:5212", source="Orphanet:137", source="MONDO:equivalentTo", source="ORDO:137/e"} +xref: UMLS:C0282577 {source="DOID:5212", source="Orphanet:137", source="MONDO:equivalentTo", source="Orphanet:137/e"} is_a: MONDO:0019052 {source="Orphanet:137"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0070085 ! glycosylation @@ -303878,8 +303719,8 @@ synonym: "Simplexvirus keratitis" EXACT [] xref: DOID:0080158 {source="MONDO:equivalentTo"} xref: DOID:9195 {source="EFO:0007308"} xref: EFO:0007308 {source="MONDO:equivalentTo"} -xref: ICD10EXP:B00.5+ {source="Orphanet:137586", source="ORDO:137586/e"} -xref: ICD10EXP:H19.1* {source="Orphanet:137586", source="ORDO:137586/e"} +xref: ICD10EXP:B00.5+ {source="Orphanet:137586", source="Orphanet:137586/e"} +xref: ICD10EXP:H19.1* {source="Orphanet:137586", source="Orphanet:137586/e"} xref: MESH:D007635 {source="DOID:0080158", source="EFO:0007308"} xref: MESH:D016849 {source="DOID:0080158"} xref: NCIT:C34743 {source="MONDO:equivalentTo"} @@ -303911,11 +303752,11 @@ name: neurotrophic keratopathy def: "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision." [Orphanet:137596] subset: ordo_disease {source="Orphanet:137596"} synonym: "neurotrophic keratitis" EXACT [Orphanet:137596] -xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="ORDO:137596/ntbt", source="Orphanet:137596"} -xref: MedDRA:10069732 {source="Orphanet:137596", source="ORDO:137596/e"} +xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:137596/ntbt", source="Orphanet:137596"} +xref: MedDRA:10069732 {source="Orphanet:137596/e", source="Orphanet:137596"} xref: Orphanet:137596 {source="MONDO:equivalentTo"} xref: SCTID:128080005 {source="MONDO:equivalentTo"} -xref: UMLS:C0339296 {source="MONDO:equivalentTo", source="Orphanet:137596", source="ORDO:137596/e"} +xref: UMLS:C0339296 {source="Orphanet:137596/e", source="MONDO:equivalentTo", source="Orphanet:137596"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder [Term] @@ -303923,9 +303764,9 @@ id: MONDO:0015291 name: stromal keratitis def: "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." [Orphanet:137599] subset: ordo_disease {source="Orphanet:137599"} -xref: ICD10CM:H16.3 {source="Orphanet:137599", source="ORDO:137599/ntbt"} +xref: ICD10CM:H16.3 {source="Orphanet:137599/ntbt", source="Orphanet:137599"} xref: Orphanet:137599 {source="MONDO:equivalentTo"} -xref: UMLS:C1318020 {source="ORDO:137599/e", source="Orphanet:137599", source="MONDO:equivalentTo"} +xref: UMLS:C1318020 {source="Orphanet:137599", source="MONDO:equivalentTo", source="Orphanet:137599/e"} is_a: MONDO:0015288 {source="Orphanet:137599"} ! herpes simplex virus keratitis [Term] @@ -303968,12 +303809,12 @@ synonym: "NSF" RELATED ABBREVIATION [GARD:0009725] xref: EFO:1001814 {source="MONDO:equivalentTo"} xref: GARD:0009725 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10067467 {source="Orphanet:137617", source="ORDO:137617/e"} +xref: MedDRA:10067467 {source="Orphanet:137617", source="Orphanet:137617/e"} xref: MESH:D054989 {source="MONDO:equivalentTo"} xref: NCIT:C84920 {source="MONDO:equivalentTo"} xref: Orphanet:137617 {source="MONDO:equivalentTo"} xref: SCTID:424114000 {source="MONDO:equivalentTo"} -xref: UMLS:C1619692 {source="MONDO:equivalentTo", source="Orphanet:137617", source="ORDO:137617/e"} +xref: UMLS:C1619692 {source="MONDO:equivalentTo", source="Orphanet:137617", source="Orphanet:137617/e"} xref: UMLS:C3888044 {source="MONDO:equivalentTo", source="Orphanet:137617"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis xsd:anyURI {source="GARD:0009725"} @@ -303983,7 +303824,7 @@ id: MONDO:0015295 name: intractable diarrhea-choanal atresia-eye anomalies syndrome def: "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously." [Orphanet:137622] subset: ordo_malformation_syndrome {source="Orphanet:137622"} -xref: ICD10CM:Q87.8 {source="Orphanet:137622", source="ORDO:137622/attributed", source="ORDO:137622/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:137622", source="Orphanet:137622/attributed", source="Orphanet:137622/ntbt"} xref: Orphanet:137622 {source="MONDO:equivalentTo"} xref: UMLS:CN226653 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:137622", source="Orphanet:137622/inferred"} ! intestinal disorder @@ -303997,7 +303838,7 @@ id: MONDO:0015296 name: cardiac anomalies-heterotaxy syndrome def: "Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." [Orphanet:137628] subset: ordo_malformation_syndrome {source="Orphanet:137628"} -xref: ICD10CM:Q28.8 {source="ORDO:137628/attributed", source="ORDO:137628/ntbt", source="Orphanet:137628"} +xref: ICD10CM:Q28.8 {source="Orphanet:137628", source="Orphanet:137628/attributed", source="Orphanet:137628/ntbt"} xref: Orphanet:137628 {source="MONDO:equivalentTo"} xref: UMLS:CN199246 {source="MONDO:equivalentTo"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -304007,7 +303848,7 @@ id: MONDO:0015297 name: obsolete microcephaly-digital anomalies-intellectual disability syndrome comment: Obsolete in Orphanet synonym: "Kelly-Kirson-Wyatt syndrome" EXACT [Orphanet:137653] -xref: ICD10CM:Q87.8 {source="Orphanet:137653", source="ORDO:137653/attributed", source="ORDO:137653/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:137653", source="Orphanet:137653/attributed", source="Orphanet:137653/ntbt"} xref: Orphanet:137653 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN199250 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -304019,7 +303860,7 @@ name: pellucid marginal degeneration subset: gard_rare {source="GARD:0011895"} subset: ordo_disease {source="Orphanet:137672"} xref: GARD:0011895 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.7 {source="ORDO:137672/ntbt", source="Orphanet:137672"} +xref: ICD10CM:H18.7 {source="Orphanet:137672/ntbt", source="Orphanet:137672"} xref: Orphanet:137672 {source="MONDO:equivalentTo"} xref: UMLS:CN199253 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder @@ -304038,14 +303879,14 @@ synonym: "intrauterine adhesions" EXACT [Orphanet:137686] synonym: "intrauterine synechiae" EXACT [Orphanet:137686] synonym: "uterine synechiae" RELATED [GARD:0005853] xref: GARD:0005853 {source="MONDO:equivalentTo"} -xref: ICD10CM:N85.6 {source="Orphanet:137686", source="ORDO:137686/e"} -xref: MedDRA:10022821 {source="Orphanet:137686", source="ORDO:137686/e"} -xref: MedDRA:10053868 {source="Orphanet:137686", source="ORDO:137686/e"} +xref: ICD10CM:N85.6 {source="Orphanet:137686", source="Orphanet:137686/e"} +xref: MedDRA:10022821 {source="Orphanet:137686", source="Orphanet:137686/e"} +xref: MedDRA:10053868 {source="Orphanet:137686", source="Orphanet:137686/e"} xref: Orphanet:137686 {source="MONDO:equivalentTo"} xref: SCTID:48236007 {source="MONDO:equivalentTo"} -xref: UMLS:C0156372 {source="Orphanet:137686", source="ORDO:137686/e", source="MONDO:equivalentTo"} +xref: UMLS:C0156372 {source="Orphanet:137686", source="MONDO:equivalentTo", source="Orphanet:137686/e"} xref: UMLS:C0241593 {source="Orphanet:137686", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1704274 {source="Orphanet:137686", source="ORDO:137686/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1704274 {source="Orphanet:137686", source="Orphanet:137686/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002263 {source="MONDO:0015859-obsoleted"} ! female reproductive system disorder [Term] @@ -304057,15 +303898,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:1377"} synonym: "cataract microcornea syndrome" RELATED [GARD:0001155] synonym: "microcornea cataract syndrome" RELATED [GARD:0001155] xref: GARD:0001155 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q13.8 {source="Orphanet:1377", source="ORDO:1377/attributed", source="ORDO:1377/ntbt"} -xref: MESH:C538287 {source="ORDO:1377/e", source="Orphanet:1377", source="MONDO:equivalentTo"} -xref: OMIM:115700 {source="MONDO:relatedTo", source="Orphanet:1377", source="MONDO:superClassOf", source="ORDO:1377/btnt"} +xref: ICD10CM:Q13.8 {source="Orphanet:1377/attributed", source="Orphanet:1377/ntbt", source="Orphanet:1377"} +xref: MESH:C538287 {source="Orphanet:1377", source="MONDO:equivalentTo", source="Orphanet:1377/e"} +xref: OMIM:115700 {source="Orphanet:1377/btnt", source="MONDO:relatedTo", source="Orphanet:1377", source="MONDO:superClassOf"} xref: OMIM:116150 {source="GARD:0001155"} -xref: OMIM:116200 {source="MONDO:subClassOf", source="Orphanet:1377", source="ORDO:1377/btnt"} -xref: OMIM:601547 {source="MONDO:relatedTo", source="Orphanet:1377", source="MONDO:superClassOf", source="ORDO:1377/btnt"} -xref: OMIM:604219 {source="MONDO:relatedTo", source="Orphanet:1377", source="MONDO:superClassOf", source="ORDO:1377/btnt"} +xref: OMIM:116200 {source="MONDO:subClassOf", source="Orphanet:1377/btnt", source="Orphanet:1377"} +xref: OMIM:601547 {source="Orphanet:1377/btnt", source="MONDO:relatedTo", source="Orphanet:1377", source="MONDO:superClassOf"} +xref: OMIM:604219 {source="Orphanet:1377/btnt", source="MONDO:relatedTo", source="Orphanet:1377", source="MONDO:superClassOf"} xref: Orphanet:1377 {source="MONDO:equivalentTo"} -xref: UMLS:C1861829 {source="ORDO:1377/e", source="Orphanet:1377", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1861829 {source="Orphanet:1377", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1377/e"} is_a: MONDO:0020225 {source="Orphanet:1377"} ! syndromic cataract relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1377"} ! non-syndromic developmental defect of the eye property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome xsd:anyURI {source="GARD:0001155"} @@ -304087,13 +303928,13 @@ synonym: "PLCA" NARROW ABBREVIATION [Orphanet:137807] synonym: "primary localized cutaneous amyloidosis" EXACT [Orphanet:137807] xref: DOID:0050639 {source="MONDO:equivalentTo"} xref: GARD:0000132 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E85.4+ {source="ORDO:137807/e", source="Orphanet:137807"} -xref: ICD10EXP:L99.0* {source="ORDO:137807/e", source="Orphanet:137807"} -xref: MedDRA:10011659 {source="ORDO:137807/e", source="Orphanet:137807"} +xref: ICD10EXP:E85.4+ {source="Orphanet:137807/e", source="Orphanet:137807"} +xref: ICD10EXP:L99.0* {source="Orphanet:137807/e", source="Orphanet:137807"} +xref: MedDRA:10011659 {source="Orphanet:137807/e", source="Orphanet:137807"} xref: MESH:C562642 {source="MONDO:equivalentTo"} xref: Orphanet:137807 {source="MONDO:equivalentTo", source="DOID:0050639"} xref: SCTID:282834007 {source="MONDO:equivalentTo"} -xref: UMLS:C0268397 {source="MONDO:equivalentTo", source="ORDO:137807/e", source="Orphanet:137807"} +xref: UMLS:C0268397 {source="Orphanet:137807/e", source="MONDO:equivalentTo", source="Orphanet:137807"} is_a: MONDO:0019065 {source="DOID:0050639", source="MESH:C562642/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis is_a: MONDO:0021154 {source="Orphanet:137807"} ! dermis disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis xsd:anyURI {source="GARD:0000132"} @@ -304110,12 +303951,12 @@ synonym: "NLCA" RELATED ABBREVIATION [GARD:0010562] synonym: "PLCNA" EXACT ABBREVIATION [Orphanet:137810] synonym: "primary localized cutaneous nodular amyloidosis" EXACT [Orphanet:137810] xref: GARD:0010562 {source="MONDO:equivalentTo"} -xref: ICD10EXP:E85.4+ {source="Orphanet:137810", source="ORDO:137810/ntbt"} -xref: ICD10EXP:L99.0* {source="Orphanet:137810", source="ORDO:137810/ntbt"} -xref: MedDRA:10056953 {source="ORDO:137810/e", source="Orphanet:137810"} +xref: ICD10EXP:E85.4+ {source="Orphanet:137810/ntbt", source="Orphanet:137810"} +xref: ICD10EXP:L99.0* {source="Orphanet:137810/ntbt", source="Orphanet:137810"} +xref: MedDRA:10056953 {source="Orphanet:137810", source="Orphanet:137810/e"} xref: Orphanet:137810 {source="MONDO:equivalentTo"} xref: SCTID:716704007 {source="MONDO:equivalentTo"} -xref: UMLS:C0546394 {source="ORDO:137810/e", source="Orphanet:137810", source="MONDO:equivalentTo"} +xref: UMLS:C0546394 {source="Orphanet:137810", source="MONDO:equivalentTo", source="Orphanet:137810/e"} xref: UMLS:C4274331 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="Orphanet:137810", source="linkedlifedata", source="linkedlifedata/inferred"} ! primary cutaneous amyloidosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous xsd:anyURI {source="GARD:0010562"} @@ -304125,8 +303966,8 @@ id: MONDO:0015303 name: macular amyloidosis def: "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." [Orphanet:137814] subset: ordo_disease {source="Orphanet:137814"} -xref: ICD10EXP:E85.4+ {source="ORDO:137814/ntbt", source="Orphanet:137814"} -xref: ICD10EXP:L99.0* {source="ORDO:137814/ntbt", source="Orphanet:137814"} +xref: ICD10EXP:E85.4+ {source="Orphanet:137814", source="Orphanet:137814/ntbt"} +xref: ICD10EXP:L99.0* {source="Orphanet:137814", source="Orphanet:137814/ntbt"} xref: Orphanet:137814 {source="MONDO:equivalentTo"} xref: UMLS:C0544839 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="Orphanet:137814"} ! primary cutaneous amyloidosis @@ -304143,17 +303984,17 @@ synonym: "inflammation of arachnoid mater" EXACT [] xref: DOID:12156 {source="MONDO:equivalentTo"} xref: GARD:0005839 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:G03 {source="DOID:12156"} -xref: ICD10CM:G03.9 {source="ORDO:137817/ntbt", source="Orphanet:137817"} -xref: MedDRA:10003074 {source="Orphanet:137817", source="ORDO:137817/e"} -xref: MESH:D001100 {source="MONDO:equivalentTo", source="Orphanet:137817", source="ORDO:137817/e", source="DOID:12156"} +xref: ICD10CM:G03.9 {source="Orphanet:137817", source="Orphanet:137817/ntbt"} +xref: MedDRA:10003074 {source="Orphanet:137817/e", source="Orphanet:137817"} +xref: MESH:D001100 {source="Orphanet:137817/e", source="MONDO:equivalentTo", source="Orphanet:137817", source="DOID:12156"} xref: NCIT:C37913 {source="MONDO:equivalentTo", source="DOID:12156"} -xref: OMIM:182950 {source="ORDO:137817/btnt", source="MONDO:superClassOf", source="Orphanet:137817"} +xref: OMIM:182950 {source="MONDO:superClassOf", source="Orphanet:137817", source="Orphanet:137817/btnt"} xref: Orphanet:137817 {source="MONDO:equivalentTo"} xref: SCTID:13980006 {source="MONDO:equivalentTo"} xref: SCTID:154986008 {source="DOID:12156"} xref: SCTID:267681007 {source="DOID:12156"} xref: SCTID:8217007 {source="DOID:12156"} -xref: UMLS:C0003708 {source="MONDO:equivalentTo", source="Orphanet:137817", source="ORDO:137817/e", source="NCIT:C37913", source="DOID:12156"} +xref: UMLS:C0003708 {source="Orphanet:137817/e", source="MONDO:equivalentTo", source="Orphanet:137817", source="NCIT:C37913", source="DOID:12156"} xref: UMLS:C0270617 {source="MONDO:equivalentTo", source="Orphanet:137817"} is_a: MONDO:0004796 {source="DOID:12156", source="MESH:D001100"} ! infectious meningitis is_a: MONDO:0005071 {source="MONDO:Redundant", source="Orphanet:137817", source="indirect"} ! nervous system disorder @@ -304177,15 +304018,15 @@ xref: UMLS:C0404545 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundIn property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0005133 -consider: ICD10CM:N80.0 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"} -consider: ICD10CM:N80.1 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"} -consider: ICD10CM:N80.2 {source="Orphanet:137820", source="ORDO:137820/btnt"} -consider: ICD10CM:N80.3 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"} -consider: ICD10CM:N80.4 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"} -consider: ICD10CM:N80.5 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"} -consider: ICD10CM:N80.6 {source="Orphanet:137820", source="ORDO:137820/btnt", source="MONDO:directSiblingOf"} -consider: ICD10CM:N80.8 {source="Orphanet:137820", source="ORDO:137820/btnt"} -consider: ICD10CM:N80.9 {source="Orphanet:137820", source="ORDO:137820/btnt"} +consider: ICD10CM:N80.0 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} +consider: ICD10CM:N80.1 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} +consider: ICD10CM:N80.2 {source="Orphanet:137820", source="Orphanet:137820/btnt"} +consider: ICD10CM:N80.3 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} +consider: ICD10CM:N80.4 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} +consider: ICD10CM:N80.5 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} +consider: ICD10CM:N80.6 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} +consider: ICD10CM:N80.8 {source="Orphanet:137820", source="Orphanet:137820/btnt"} +consider: ICD10CM:N80.9 {source="Orphanet:137820", source="Orphanet:137820/btnt"} consider: UMLS:C0014175 {source="Orphanet:137820"} [Term] @@ -304206,15 +304047,15 @@ synonym: "postanginal sepsis secondary to orophyngeal infection" EXACT [Orphanet synonym: "septic phlebitis of the internal jugular vein" EXACT [Orphanet:137839] xref: DOID:11337 {source="MONDO:equivalentTo"} xref: GARD:0006882 {source="MONDO:equivalentTo"} -xref: ICD10CM:I80.8 {source="ORDO:137839/ntbt", source="Orphanet:137839"} +xref: ICD10CM:I80.8 {source="Orphanet:137839", source="Orphanet:137839/ntbt"} xref: ICD9:040.3 {source="DOID:11337", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10065552 {source="Orphanet:137839", source="ORDO:137839/e"} +xref: MedDRA:10065552 {source="Orphanet:137839/e", source="Orphanet:137839"} xref: MESH:D005674 {source="DOID:11337"} -xref: MESH:D057831 {source="MONDO:equivalentTo", source="Orphanet:137839", source="ORDO:137839/e"} +xref: MESH:D057831 {source="Orphanet:137839/e", source="MONDO:equivalentTo", source="Orphanet:137839"} xref: Orphanet:137839 {source="MONDO:equivalentTo"} xref: SCTID:52542005 {source="DOID:11337", source="MONDO:equivalentTo"} xref: UMLS:C0027537 {source="DOID:11337", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0343525 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137839", source="ORDO:137839/e"} +xref: UMLS:C0343525 {source="Orphanet:137839/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137839"} is_a: MONDO:0000315 {source="DOID:11337"} ! commensal bacterial infectious disease is_a: MONDO:0005113 {source="Orphanet:137839"} ! bacterial infectious disease relationship: disease_has_feature HP:0001974 ! Leukocytosis @@ -304230,9 +304071,9 @@ def: "Madras motor neuron disease (MMND) is characterized by weakness and atroph subset: ordo_disease {source="Orphanet:137867"} synonym: "MMND" EXACT ABBREVIATION [Orphanet:137867] xref: GARD:0010742 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:137867/attributed", source="ORDO:137867/ntbt", source="Orphanet:137867"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:137867", source="Orphanet:137867/attributed", source="Orphanet:137867/ntbt"} xref: Orphanet:137867 {source="MONDO:equivalentTo"} -xref: UMLS:C0393551 {source="ORDO:137867/e", source="MONDO:equivalentTo", source="Orphanet:137867"} +xref: UMLS:C0393551 {source="MONDO:equivalentTo", source="Orphanet:137867", source="Orphanet:137867/e"} is_a: MONDO:0020128 {source="Orphanet:137867", source="Orphanet:137867/inferred"} ! motor neuron disorder [Term] @@ -304241,7 +304082,7 @@ name: laminopathy type Decaudain-Vigouroux def: "Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." [Orphanet:137871] subset: ordo_disease {source="Orphanet:137871"} synonym: "laminopathy with severe metabolic syndrome and myopathy" EXACT [Orphanet:137871] -xref: ICD10CM:E88.8 {source="ORDO:137871/attributed", source="ORDO:137871/ntbt", source="Orphanet:137871"} +xref: ICD10CM:E88.8 {source="Orphanet:137871/attributed", source="Orphanet:137871/ntbt", source="Orphanet:137871"} xref: Orphanet:137871 {source="MONDO:equivalentTo"} xref: SCTID:724205009 {source="MONDO:equivalentTo"} xref: UMLS:C4518324 {source="MONDO:equivalentTo"} @@ -304283,7 +304124,7 @@ id: MONDO:0015312 name: choanal atresia, unilateral def: "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." [Orphanet:137917] subset: ordo_clinical_subtype {source="Orphanet:137917"} -xref: ICD10CM:Q30.0 {source="MONDO:subClassOf", source="ORDO:137917/ntbt", source="Orphanet:137917"} +xref: ICD10CM:Q30.0 {source="MONDO:subClassOf", source="Orphanet:137917/ntbt", source="Orphanet:137917"} xref: Orphanet:137917 {source="MONDO:equivalentTo"} xref: UMLS:CN199280 {source="MONDO:equivalentTo"} is_a: MONDO:0012155 {source="Orphanet:137917"} ! choanal atresia @@ -304293,7 +304134,7 @@ id: MONDO:0015313 name: choanal atresia, bilateral def: "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." [Orphanet:137920] subset: ordo_clinical_subtype {source="Orphanet:137920"} -xref: ICD10CM:Q30.0 {source="MONDO:subClassOf", source="Orphanet:137920", source="ORDO:137920/ntbt"} +xref: ICD10CM:Q30.0 {source="MONDO:subClassOf", source="Orphanet:137920/ntbt", source="Orphanet:137920"} xref: Orphanet:137920 {source="MONDO:equivalentTo"} xref: UMLS:CN199281 {source="MONDO:equivalentTo"} is_a: MONDO:0012155 {source="Orphanet:137920"} ! choanal atresia @@ -304303,7 +304144,7 @@ id: MONDO:0015314 name: primary laryngeal lymphangioma def: "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." [Orphanet:137926] subset: ordo_malformation_syndrome {source="Orphanet:137926"} -xref: ICD10CM:D18.1 {source="ORDO:137926/ntbt", source="Orphanet:137926"} +xref: ICD10CM:D18.1 {source="Orphanet:137926/ntbt", source="Orphanet:137926"} xref: Orphanet:137926 {source="MONDO:equivalentTo"} xref: SCTID:763617006 {source="MONDO:equivalentTo"} is_a: MONDO:0015504 {source="Orphanet:137926"} ! larynx anomaly @@ -304326,7 +304167,7 @@ subset: gard_rare {source="GARD:0012713"} subset: ordo_malformation_syndrome {source="Orphanet:137932"} synonym: "congenital vocal cord paralysis" EXACT [Orphanet:137932] xref: GARD:0012713 {source="MONDO:equivalentTo"} -xref: ICD10CM:J38.0 {source="Orphanet:137932", source="ORDO:137932/ntbt"} +xref: ICD10CM:J38.0 {source="Orphanet:137932/ntbt", source="Orphanet:137932"} xref: Orphanet:137932 {source="MONDO:equivalentTo"} xref: UMLS:C0396058 {source="Orphanet:137932", source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="Orphanet:137932"} ! nervous system disorder @@ -304340,7 +304181,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12713/congeni id: MONDO:0015317 name: laryngotracheal angioma subset: ordo_disease {source="Orphanet:137935"} -xref: ICD10CM:D18.0 {source="ORDO:137935/ntbt", source="Orphanet:137935"} +xref: ICD10CM:D18.0 {source="Orphanet:137935", source="Orphanet:137935/ntbt"} xref: ICD9:228.09 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:137935 {source="MONDO:equivalentTo"} xref: SCTID:703199001 {source="MONDO:equivalentTo"} @@ -304418,7 +304259,7 @@ synonym: "congenital cataract with multiple congenital anomalies in a sibship" R synonym: "Karandikar Maria Kamble syndrome" RELATED [GARD:0000192] synonym: "Karandikar-Maria-Kamble syndrome" EXACT [Orphanet:1381] xref: GARD:0000192 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:1381", source="ORDO:1381/attributed", source="ORDO:1381/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1381/attributed", source="Orphanet:1381/ntbt", source="Orphanet:1381"} xref: MESH:C537009 {source="MONDO:equivalentTo"} xref: Orphanet:1381 {source="MONDO:equivalentTo"} xref: SCTID:715989002 {source="MONDO:equivalentTo"} @@ -304435,7 +304276,7 @@ name: cataract-deafness-hypogonadism syndrome def: "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." [Orphanet:1383] subset: ordo_malformation_syndrome {source="Orphanet:1383"} synonym: "Schaap-Taylor-Baraitser syndrome" EXACT [Orphanet:1383] -xref: ICD10CM:Q87.8 {source="ORDO:1383/attributed", source="ORDO:1383/ntbt", source="Orphanet:1383"} +xref: ICD10CM:Q87.8 {source="Orphanet:1383/attributed", source="Orphanet:1383/ntbt", source="Orphanet:1383"} xref: MESH:C536626 {source="MONDO:equivalentTo"} xref: Orphanet:1383 {source="MONDO:equivalentTo"} xref: SCTID:722378009 {source="MONDO:equivalentTo"} @@ -304454,7 +304295,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1390"} synonym: "Hunter Thompson Reed syndrome" RELATED [GARD:0003994] synonym: "Hunter-Thompson-Reed syndrome" EXACT [Orphanet:1390] xref: GARD:0003994 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1390/attributed", source="ORDO:1390/ntbt", source="Orphanet:1390"} +xref: ICD10CM:Q87.8 {source="Orphanet:1390", source="Orphanet:1390/attributed", source="Orphanet:1390/ntbt"} xref: Orphanet:1390 {source="MONDO:equivalentTo"} xref: UMLS:C2931114 {source="GARD:0003994", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN199356 {source="MONDO:equivalentTo"} @@ -304593,7 +304434,7 @@ def: "A craniosynostosis that is not part of a larger syndrome." [MONDO:patterns subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:139390"} synonym: "nonsyndromic craniosynostosis" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:139390", source="ORDO:139390/attributed", source="ORDO:139390/ntbt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:139390/attributed", source="Orphanet:139390/ntbt", source="Orphanet:139390"} xref: Orphanet:139390 {source="MONDO:equivalentTo"} xref: UMLS:C0010278 {source="MONDO:subClassOf", source="Orphanet:139390"} is_a: MONDO:0015469 {source="MONDO:Redundant", source="Orphanet:139390"} ! craniosynostosis @@ -304622,11 +304463,11 @@ subset: ordo_clinical_subtype {source="Orphanet:139399"} synonym: "adrenomyeloneuropathy" EXACT CLINGEN_PREFERRED [Orphanet:139399] synonym: "AMN" RELATED ABBREVIATION [GARD:0010614] xref: GARD:0010614 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E71.3 {source="ORDO:139399/attributed", source="ORDO:139399/ntbt", source="Orphanet:139399"} -xref: OMIM:300100 {source="MONDO:subClassOf", source="ORDO:139399/ntbt", source="Orphanet:139399"} +xref: ICD10CM:E71.3 {source="Orphanet:139399/attributed", source="Orphanet:139399/ntbt", source="Orphanet:139399"} +xref: OMIM:300100 {source="MONDO:subClassOf", source="Orphanet:139399/ntbt", source="Orphanet:139399"} xref: Orphanet:139399 {source="MONDO:equivalentTo"} xref: SCTID:65389002 {source="MONDO:equivalentTo"} -xref: UMLS:C1527231 {source="MONDO:equivalentTo", source="ORDO:139399/e", source="Orphanet:139399"} +xref: UMLS:C1527231 {source="Orphanet:139399/e", source="MONDO:equivalentTo", source="Orphanet:139399"} is_a: MONDO:0018544 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! adrenoleukodystrophy is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! genetic peripheral neuropathy relationship: excluded_subClassOf MONDO:0010247 ! X-linked cerebral adrenoleukodystrophy @@ -304640,11 +304481,11 @@ def: "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hy subset: ordo_disease {source="Orphanet:139402"} synonym: "dress syndrome" EXACT [Orphanet:139402] synonym: "drug reaction eosinophilic systemic syndrome" EXACT [Orphanet:139402] -xref: MedDRA:10058919 {source="Orphanet:139402", source="ORDO:139402/e"} +xref: MedDRA:10058919 {source="Orphanet:139402", source="Orphanet:139402/e"} xref: MESH:D063926 {source="MONDO:equivalentTo"} xref: Orphanet:139402 {source="MONDO:equivalentTo"} xref: SCTID:702809001 {source="MONDO:equivalentTo"} -xref: UMLS:C1142139 {source="Orphanet:139402", source="ORDO:139402/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1142139 {source="Orphanet:139402", source="Orphanet:139402/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3541994 {source="Orphanet:139402", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005492 {source="Orphanet:139402"} ! urticaria is_a: MONDO:0017396 {source="Orphanet:139402"} ! toxic dermatosis @@ -304670,14 +304511,14 @@ id: MONDO:0015342 name: acute transverse myelitis def: "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM)." [Orphanet:139417] subset: ordo_disease {source="Orphanet:139417"} -xref: ICD10CM:G37.3 {source="Orphanet:139417", source="ORDO:139417/ntbt"} +xref: ICD10CM:G37.3 {source="Orphanet:139417/ntbt", source="Orphanet:139417"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:341.20 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D009188 {source="MONDO:equivalentTo"} xref: NCIT:C128378 {source="MONDO:equivalentTo"} xref: Orphanet:139417 {source="MONDO:equivalentTo"} xref: SCTID:47000000 {source="MONDO:equivalentTo"} -xref: UMLS:C0270627 {source="NCIT:C128378", source="Orphanet:139417", source="ORDO:139417/e", source="MONDO:equivalentTo"} +xref: UMLS:C0270627 {source="NCIT:C128378", source="Orphanet:139417", source="MONDO:equivalentTo", source="Orphanet:139417/e"} is_a: MONDO:0002565 {source="MESH:D009188", source="NCIT:C128378", source="linkedlifedata", source="linkedlifedata/inferred"} ! myelitis is_a: MONDO:0015141 {source="Orphanet:139417"} ! disorder of medulla oblongata @@ -304687,7 +304528,7 @@ name: secondary acute transverse myelitis def: "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." [Orphanet:139420] subset: ordo_clinical_subtype {source="Orphanet:139420"} synonym: "disease-associated transverse myelitis" EXACT [Orphanet:139420] -xref: ICD10CM:G37.3 {source="Orphanet:139420", source="ORDO:139420/ntbt"} +xref: ICD10CM:G37.3 {source="Orphanet:139420/ntbt", source="Orphanet:139420"} xref: Orphanet:139420 {source="MONDO:equivalentTo"} xref: UMLS:CN199396 {source="MONDO:equivalentTo"} is_a: MONDO:0015342 {source="Orphanet:139420"} ! acute transverse myelitis @@ -304698,7 +304539,7 @@ name: idiopathic acute transverse myelitis def: "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." [Orphanet:139423] subset: ordo_clinical_subtype {source="Orphanet:139423"} synonym: "ATM/TM" EXACT [Orphanet:139423] -xref: ICD10CM:G37.3 {source="Orphanet:139423", source="ORDO:139423/ntbt"} +xref: ICD10CM:G37.3 {source="Orphanet:139423", source="Orphanet:139423/ntbt"} xref: Orphanet:139423 {source="MONDO:equivalentTo"} is_a: MONDO:0015342 {source="Orphanet:139423"} ! acute transverse myelitis intersection_of: MONDO:0015342 ! acute transverse myelitis @@ -304722,7 +304563,7 @@ subset: ordo_disease {source="Orphanet:139431"} synonym: "EMEA" EXACT ABBREVIATION [Orphanet:139431] synonym: "epilepsy with eyelid myoclonias" EXACT [http://orcid.org/0000-0001-8486-0558, https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html] synonym: "eyelid myoclonia with and without absences" EXACT [Orphanet:139431] -xref: ICD10CM:G40.3 {source="Orphanet:139431", source="ORDO:139431/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:139431/ntbt", source="Orphanet:139431"} xref: Orphanet:139431 {source="MONDO:equivalentTo"} xref: SCTID:716278005 {source="MONDO:equivalentTo"} xref: UMLS:C4274731 {source="MONDO:equivalentTo"} @@ -304740,11 +304581,11 @@ synonym: "lipoid dermatoarthritis" EXACT [DOID:11824, Orphanet:139436] synonym: "multicentric reticulohistiocytosis" EXACT [DOID:11824] xref: DOID:11824 {source="MONDO:equivalentTo"} xref: GARD:0007103 {source="MONDO:equivalentTo"} -xref: ICD10CM:D76.3 {source="Orphanet:139436", source="ORDO:139436/ntbt"} +xref: ICD10CM:D76.3 {source="Orphanet:139436/ntbt", source="Orphanet:139436"} xref: ICD10CM:E78.81 {source="DOID:11824"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:713.0 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10070595 {source="ORDO:139436/e", source="Orphanet:139436"} +xref: MedDRA:10070595 {source="Orphanet:139436", source="Orphanet:139436/e"} xref: NCIT:C27896 {source="DOID:11824", source="MONDO:equivalentTo"} xref: Orphanet:139436 {source="DOID:11824", source="MONDO:equivalentTo"} xref: SCTID:190801003 {source="DOID:11824"} @@ -304759,7 +304600,7 @@ id: MONDO:0015348 name: leukoencephalopathy with bilateral anterior temporal lobe cysts def: "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." [Orphanet:139444] subset: ordo_disease {source="Orphanet:139444"} -xref: ICD10CM:E75.2 {source="ORDO:139444/attributed", source="ORDO:139444/ntbt", source="Orphanet:139444"} +xref: ICD10CM:E75.2 {source="Orphanet:139444/attributed", source="Orphanet:139444/ntbt", source="Orphanet:139444"} xref: Orphanet:139444 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:139444"} ! leukodystrophy @@ -304768,7 +304609,7 @@ id: MONDO:0015349 name: progressive cavitating leukoencephalopathy def: "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." [Orphanet:139447] subset: ordo_disease {source="Orphanet:139447"} -xref: ICD10CM:E75.2 {source="Orphanet:139447", source="ORDO:139447/attributed", source="ORDO:139447/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:139447/attributed", source="Orphanet:139447/ntbt", source="Orphanet:139447"} xref: Orphanet:139447 {source="MONDO:equivalentTo"} xref: SCTID:719267003 {source="MONDO:equivalentTo"} xref: UMLS:C4304840 {source="MONDO:equivalentTo"} @@ -304785,7 +304626,7 @@ synonym: "Grisart-Destree syndrome" EXACT [Orphanet:139474] synonym: "Grisart-Destrée syndrome" EXACT [Orphanet:139474] synonym: "Nf1 Microduplication Syndrome" EXACT [OMIM:618874] synonym: "trisomy 17q11.2" EXACT [Orphanet:139474] -xref: OMIM:613675 {source="MONDO:subClassOf", source="ORDO:139474/ntbt", source="MONDO:relatedTo", source="Orphanet:139474"} +xref: OMIM:613675 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:139474/ntbt", source="Orphanet:139474"} xref: OMIM:618874 {source="MONDO:equivalentTo"} xref: Orphanet:139474 {source="MONDO:equivalentTo"} xref: SCTID:719583002 {source="MONDO:equivalentTo"} @@ -304807,7 +304648,7 @@ id: MONDO:0015351 name: neuropathy with hearing impairment def: "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." [Orphanet:139512] subset: ordo_disease {source="Orphanet:139512"} -xref: ICD10CM:G60.8 {source="Orphanet:139512", source="ORDO:139512/attributed", source="ORDO:139512/ntbt"} +xref: ICD10CM:G60.8 {source="Orphanet:139512", source="Orphanet:139512/attributed", source="Orphanet:139512/ntbt"} xref: Orphanet:139512 {source="MONDO:equivalentTo"} xref: SCTID:723497003 {source="MONDO:equivalentTo"} xref: UMLS:CN199414 {source="MONDO:equivalentTo"} @@ -304822,12 +304663,12 @@ synonym: "dHMN2" EXACT [Orphanet:139525] synonym: "distal spinal muscular atrophy type 2" EXACT [Orphanet:139525] synonym: "dSMA2" EXACT [Orphanet:139525] xref: DOID:0111206 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139525", source="ORDO:139525/attributed", source="ORDO:139525/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139525", source="Orphanet:139525/attributed", source="Orphanet:139525/ntbt"} xref: MESH:C580044 {source="MONDO:equivalentTo"} -xref: OMIM:158590 {source="Orphanet:139525", source="MONDO:superClassOf", source="ORDO:139525/btnt"} -xref: OMIM:608634 {source="Orphanet:139525", source="MONDO:superClassOf", source="ORDO:139525/btnt"} -xref: OMIM:613376 {source="Orphanet:139525", source="MONDO:superClassOf", source="ORDO:139525/btnt"} -xref: OMIM:615575 {source="Orphanet:139525", source="MONDO:superClassOf", source="ORDO:139525/btnt"} +xref: OMIM:158590 {source="Orphanet:139525", source="Orphanet:139525/btnt", source="MONDO:superClassOf"} +xref: OMIM:608634 {source="Orphanet:139525", source="Orphanet:139525/btnt", source="MONDO:superClassOf"} +xref: OMIM:613376 {source="Orphanet:139525", source="Orphanet:139525/btnt", source="MONDO:superClassOf"} +xref: OMIM:615575 {source="Orphanet:139525", source="Orphanet:139525/btnt", source="MONDO:superClassOf"} xref: Orphanet:139525 {source="MONDO:equivalentTo"} xref: UMLS:C1854023 {source="Orphanet:139525", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3711384 {source="Orphanet:139525", source="MONDO:notFoundInDiseaseSubset"} @@ -304852,8 +304693,8 @@ synonym: "spinal muscular atrophy, distal, type 5" EXACT [OMIM:600794] synonym: "spinal muscular atrophy, distal, type 5A" EXACT [OMIM:600794] synonym: "spinal muscular atrophy, distal, with upper limb predominance" EXACT [OMIM:600794] xref: DOID:0111204 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139536", source="ORDO:139536/attributed", source="ORDO:139536/ntbt"} -xref: OMIM:600794 {source="Orphanet:139536", source="MONDO:equivalentTo", source="ORDO:139536/btnt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139536", source="Orphanet:139536/attributed", source="Orphanet:139536/ntbt"} +xref: OMIM:600794 {source="Orphanet:139536", source="Orphanet:139536/btnt", source="MONDO:equivalentTo"} xref: Orphanet:139536 {source="MONDO:subClassOf", source="OMIM:600794"} xref: UMLS:C1833308 {source="OMIM:600794", source="Orphanet:139536", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015362 {source="Orphanet:139536"} ! autosomal dominant distal hereditary motor neuropathy @@ -304868,7 +304709,7 @@ name: hereditary sensory and autonomic neuropathy with deafness and global delay def: "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." [Orphanet:139573] subset: ordo_disease {source="Orphanet:139573"} synonym: "HSAN with deafness and global delay" EXACT [Orphanet:139573] -xref: ICD10CM:G60.8 {source="ORDO:139573/attributed", source="ORDO:139573/ntbt", source="Orphanet:139573"} +xref: ICD10CM:G60.8 {source="Orphanet:139573/attributed", source="Orphanet:139573/ntbt", source="Orphanet:139573"} xref: Orphanet:139573 {source="MONDO:equivalentTo"} xref: SCTID:717826009 {source="MONDO:equivalentTo"} xref: UMLS:C4303566 {source="MONDO:equivalentTo"} @@ -304883,9 +304724,9 @@ subset: ordo_disease {source="Orphanet:139589"} synonym: "dHMN7" EXACT [Orphanet:139589] synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [Orphanet:139589] xref: DOID:0111199 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139589", source="ORDO:139589/attributed", source="ORDO:139589/ntbt"} -xref: OMIM:158580 {source="Orphanet:139589", source="MONDO:superClassOf", source="ORDO:139589/btnt"} -xref: OMIM:607641 {source="Orphanet:139589", source="MONDO:superClassOf", source="ORDO:139589/btnt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:139589", source="Orphanet:139589/attributed", source="Orphanet:139589/ntbt"} +xref: OMIM:158580 {source="Orphanet:139589", source="Orphanet:139589/btnt", source="MONDO:superClassOf"} +xref: OMIM:607641 {source="Orphanet:139589", source="Orphanet:139589/btnt", source="MONDO:superClassOf"} xref: Orphanet:139589 {source="MONDO:equivalentTo"} xref: UMLS:CN199425 {source="MONDO:equivalentTo"} is_a: MONDO:0015362 {source="Orphanet:139589"} ! autosomal dominant distal hereditary motor neuropathy @@ -304930,7 +304771,7 @@ relationship: predisposes_towards MONDO:0005070 {source="https://github.com/mona id: MONDO:0015357 name: secondary hypoparathyroidism due to impaired parathormon secretion subset: ordo_disease {source="Orphanet:140286"} -xref: ICD10CM:E20.8 {source="Orphanet:140286", source="ORDO:140286/ntbt"} +xref: ICD10CM:E20.8 {source="Orphanet:140286/ntbt", source="Orphanet:140286"} xref: Orphanet:140286 {source="MONDO:equivalentTo"} xref: UMLS:CN242104 {source="MONDO:equivalentTo"} is_a: MONDO:0001220 {source="Orphanet:140286"} ! hypoparathyroidism @@ -304944,11 +304785,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:140450"} synonym: "HMSN" EXACT ABBREVIATION [Orphanet:140450] xref: GARD:0012685 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:140450/e", source="ORDO:140450/specific", source="Orphanet:140450"} -xref: MESH:D015417 {source="ORDO:140450/e", source="Orphanet:140450", source="MONDO:equivalentTo"} +xref: ICD10CM:G60.0 {source="Orphanet:140450", source="Orphanet:140450/specific", source="Orphanet:140450/e"} +xref: MESH:D015417 {source="Orphanet:140450", source="MONDO:equivalentTo", source="Orphanet:140450/e"} xref: Orphanet:140450 {source="MONDO:equivalentTo"} xref: SCTID:398100001 {source="MONDO:equivalentTo"} -xref: UMLS:C0027888 {source="ORDO:140450/e", source="Orphanet:140450", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0027888 {source="Orphanet:140450", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:140450/e"} is_a: MONDO:0020127 {source="Orphanet:140450"} ! genetic peripheral neuropathy [Term] @@ -304957,7 +304798,7 @@ name: autosomal dominant hereditary demyelinating motor and sensory neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:140453"} synonym: "AD demyelinating HMSN" EXACT [] -xref: ICD10CM:G60.0 {source="ORDO:140453/attributed", source="ORDO:140453/ntbt", source="Orphanet:140453"} +xref: ICD10CM:G60.0 {source="Orphanet:140453", source="Orphanet:140453/attributed", source="Orphanet:140453/ntbt"} xref: Orphanet:140453 {source="MONDO:equivalentTo"} xref: UMLS:CN228926 {source="MONDO:equivalentTo"} is_a: MONDO:0018776 {source="Orphanet:140453"} ! demyelinating hereditary motor and sensory neuropathy @@ -304969,7 +304810,7 @@ id: MONDO:0015360 name: autosomal dominant hereditary axonal motor and sensory neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:140456"} -xref: ICD10CM:G60.0 {source="ORDO:140456/attributed", source="ORDO:140456/ntbt", source="Orphanet:140456"} +xref: ICD10CM:G60.0 {source="Orphanet:140456/attributed", source="Orphanet:140456/ntbt", source="Orphanet:140456"} xref: Orphanet:140456 {source="MONDO:equivalentTo"} xref: UMLS:CN228927 {source="MONDO:equivalentTo"} is_a: MONDO:0018775 {source="Orphanet:140456"} ! axonal hereditary motor and sensory neuropathy @@ -304982,7 +304823,7 @@ name: autosomal recessive hereditary demyelinating motor and sensory neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:140459"} synonym: "AR demyelinating HMSN" EXACT [] -xref: ICD10CM:G60.0 {source="Orphanet:140459", source="ORDO:140459/attributed", source="ORDO:140459/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:140459/attributed", source="Orphanet:140459/ntbt", source="Orphanet:140459"} xref: Orphanet:140459 {source="MONDO:equivalentTo"} xref: UMLS:CN228928 {source="MONDO:equivalentTo"} is_a: MONDO:0018776 {source="Orphanet:140459"} ! demyelinating hereditary motor and sensory neuropathy @@ -305000,7 +304841,7 @@ synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT CLINGEN_P synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [DOID:0111198, Orphanet:140465] synonym: "distal hereditary motor neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0111198 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.1 {source="ORDO:140465/attributed", source="ORDO:140465/ntbt", source="Orphanet:140465"} +xref: ICD10CM:G12.1 {source="Orphanet:140465", source="Orphanet:140465/attributed", source="Orphanet:140465/ntbt"} xref: Orphanet:140465 {source="MONDO:equivalentTo", source="DOID:0111198"} xref: UMLS:CN228930 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0111198"} ! autosomal dominant disease @@ -305021,7 +304862,7 @@ synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [Orphanet:14 synonym: "autosomal recessive dSMA" EXACT [Orphanet:140468] synonym: "distal hereditary motor neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0111197 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:140468/attributed", source="ORDO:140468/ntbt", source="Orphanet:140468"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:140468", source="Orphanet:140468/attributed", source="Orphanet:140468/ntbt"} xref: Orphanet:140468 {source="MONDO:equivalentTo"} xref: UMLS:CN228931 {source="MONDO:equivalentTo"} is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:140468"} ! distal hereditary motor neuropathy @@ -305045,9 +304886,9 @@ synonym: "HSAN" EXACT ABBREVIATION [MONDO:cjm] synonym: "indifference to pain, Congenital, autosomal recessive" EXACT [NCIT:C125386] xref: DOID:0050548 {source="MONDO:equivalentTo"} xref: GARD:0012688 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.8 {source="Orphanet:140471", source="ORDO:140471/attributed", source="ORDO:140471/ntbt"} +xref: ICD10CM:G60.8 {source="Orphanet:140471", source="Orphanet:140471/attributed", source="Orphanet:140471/ntbt"} xref: ICD9:356.2 {source="MONDO:equivalentTo", source="i2s"} -xref: MESH:D009477 {source="Orphanet:140471", source="ORDO:140471/e", source="MONDO:equivalentTo"} +xref: MESH:D009477 {source="Orphanet:140471", source="MONDO:equivalentTo", source="Orphanet:140471/e"} xref: NCIT:C125386 {source="MONDO:equivalentTo"} xref: OMIM:162400 {source="MONDO:superClassOf", source="DOID:0050548"} xref: OMIM:201300 {source="MONDO:superClassOf", source="DOID:0050548"} @@ -305069,7 +304910,7 @@ xref: OMIMPS:162400 {source="MONDO:equivalentTo"} xref: Orphanet:140471 {source="MONDO:equivalentTo"} xref: SCTID:11442006 {source="MONDO:equivalentTo"} xref: UMLS:C0020075 {source="NCIT:C125386", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0027889 {source="Orphanet:140471", source="ORDO:140471/e", source="MONDO:equivalentTo"} +xref: UMLS:C0027889 {source="Orphanet:140471", source="MONDO:equivalentTo", source="Orphanet:140471/e"} is_a: MONDO:0002321 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! sensory peripheral neuropathy is_a: MONDO:0003847 {source="MESH:D009477/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:140471/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0020127 {source="MONDO:Redundant", source="Orphanet:140471"} ! genetic peripheral neuropathy @@ -305086,7 +304927,7 @@ def: "Autosomal dominant form of hereditary sensory and autonomic neuropathy." [ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:140474"} synonym: "hereditary sensory and autonomic neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:G60.8 {source="ORDO:140474/attributed", source="ORDO:140474/ntbt", source="Orphanet:140474"} +xref: ICD10CM:G60.8 {source="Orphanet:140474", source="Orphanet:140474/attributed", source="Orphanet:140474/ntbt"} xref: Orphanet:140474 {source="MONDO:equivalentTo"} xref: UMLS:CN228932 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="MONDO:Redundant", source="Orphanet:140474"} ! hereditary sensory and autonomic neuropathy @@ -305100,7 +304941,7 @@ def: "Autosomal recessive form of hereditary sensory and autonomic neuropathy." subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:140477"} synonym: "hereditary sensory and autonomic neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G60.8 {source="ORDO:140477/attributed", source="ORDO:140477/ntbt", source="Orphanet:140477"} +xref: ICD10CM:G60.8 {source="Orphanet:140477", source="Orphanet:140477/attributed", source="Orphanet:140477/ntbt"} xref: Orphanet:140477 {source="MONDO:equivalentTo"} xref: UMLS:CN228933 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="MONDO:Redundant", source="Orphanet:140477"} ! hereditary sensory and autonomic neuropathy @@ -305114,7 +304955,7 @@ def: "Charlie M syndrome is a rare bone developmental disorder which belongs to subset: gard_rare {source="GARD:0001261"} subset: ordo_malformation_syndrome {source="Orphanet:1406"} xref: GARD:0001261 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1406/attributed", source="ORDO:1406/ntbt", source="Orphanet:1406"} +xref: ICD10CM:Q87.0 {source="Orphanet:1406", source="Orphanet:1406/attributed", source="Orphanet:1406/ntbt"} xref: Orphanet:1406 {source="MONDO:equivalentTo"} xref: SCTID:733034007 {source="MONDO:equivalentTo"} xref: UMLS:C0221060 {source="GARD:0001261", source="MONDO:directSiblingOf"} @@ -305153,10 +304994,10 @@ id: MONDO:0015371 name: linear atrophoderma of Moulin def: "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." [Orphanet:140933] subset: ordo_disease {source="Orphanet:140933"} -xref: ICD10CM:L90.8 {source="ORDO:140933/attributed", source="ORDO:140933/ntbt", source="Orphanet:140933"} +xref: ICD10CM:L90.8 {source="Orphanet:140933/attributed", source="Orphanet:140933/ntbt", source="Orphanet:140933"} xref: Orphanet:140933 {source="MONDO:equivalentTo"} xref: SCTID:403395007 {source="MONDO:equivalentTo"} -xref: UMLS:C1274753 {source="MONDO:equivalentTo", source="ORDO:140933/e", source="Orphanet:140933"} +xref: UMLS:C1274753 {source="Orphanet:140933/e", source="MONDO:equivalentTo", source="Orphanet:140933"} is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0021154 {source="Orphanet:140933"} ! dermis disorder @@ -305165,10 +305006,10 @@ id: MONDO:0015372 name: autosomal dominant macrothrombocytopenia def: "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." [Orphanet:140957] subset: ordo_disease {source="Orphanet:140957"} -xref: ICD10CM:D69.4 {source="Orphanet:140957", source="ORDO:140957/attributed", source="ORDO:140957/ntbt"} -xref: OMIM:187800 {source="MONDO:subClassOf", source="Orphanet:140957", source="MONDO:relatedTo", source="ORDO:140957/ntbt"} -xref: OMIM:613112 {source="Orphanet:140957", source="MONDO:superClassOf", source="ORDO:140957/btnt"} -xref: OMIM:615193 {source="Orphanet:140957", source="MONDO:superClassOf", source="ORDO:140957/btnt"} +xref: ICD10CM:D69.4 {source="Orphanet:140957", source="Orphanet:140957/attributed", source="Orphanet:140957/ntbt"} +xref: OMIM:187800 {source="MONDO:subClassOf", source="Orphanet:140957", source="MONDO:relatedTo", source="Orphanet:140957/ntbt"} +xref: OMIM:613112 {source="Orphanet:140957", source="Orphanet:140957/btnt", source="MONDO:superClassOf"} +xref: OMIM:615193 {source="Orphanet:140957", source="Orphanet:140957/btnt", source="MONDO:superClassOf"} xref: Orphanet:140957 {source="MONDO:equivalentTo"} xref: SCTID:720521008 {source="MONDO:equivalentTo"} xref: UMLS:C4304021 {source="MONDO:equivalentTo"} @@ -305197,13 +305038,13 @@ synonym: "primary central nervous system vasculitis" EXACT [GARD:0008703] synonym: "primary CNS vasculitis" RELATED [GARD:0008703] synonym: "primary vasculitis of the central nervous system" EXACT [Orphanet:140989] xref: GARD:0008703 {source="MONDO:equivalentTo"} -xref: ICD10CM:I67.7 {source="ORDO:140989/attributed", source="ORDO:140989/ntbt", source="Orphanet:140989"} -xref: MESH:C535276 {source="Orphanet:140989", source="ORDO:140989/e"} +xref: ICD10CM:I67.7 {source="Orphanet:140989/attributed", source="Orphanet:140989/ntbt", source="Orphanet:140989"} +xref: MESH:C535276 {source="Orphanet:140989/e", source="Orphanet:140989"} xref: MESH:C537295 {source="MONDO:equivalentTo"} -xref: MESH:D020293 {source="MONDO:relatedTo", source="Orphanet:140989", source="ORDO:140989/e"} +xref: MESH:D020293 {source="MONDO:relatedTo", source="Orphanet:140989/e", source="Orphanet:140989"} xref: Orphanet:140989 {source="GARD:0008703", source="MONDO:equivalentTo"} -xref: UMLS:C0751881 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:140989", source="ORDO:140989/e"} -xref: UMLS:C2930862 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:140989", source="ORDO:140989/e"} +xref: UMLS:C0751881 {source="Orphanet:140989/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:140989"} +xref: UMLS:C2930862 {source="Orphanet:140989/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:140989"} is_a: MONDO:0015489 {source="Orphanet:140989"} ! predominantly medium-vessel vasculitis is_a: MONDO:0015953 {source="Orphanet:140989"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0020676 {source="Orphanet:140989"} ! disorder of central nervous system or retinal vasculature @@ -305224,13 +305065,13 @@ synonym: "orofaciodigital syndrome" EXACT [MONDO:0003020] synonym: "orofaciodigital syndromes" RELATED [GARD:0010692] xref: DOID:4501 {source="MONDO:equivalentTo"} xref: GARD:0010692 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:140997/ntbt", source="ORDO:140997/inclusion", source="Orphanet:140997"} +xref: ICD10CM:Q87.0 {source="Orphanet:140997/inclusion", source="Orphanet:140997/ntbt", source="Orphanet:140997"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D009958 {source="DOID:4501", source="MONDO:equivalentTo"} xref: OMIMPS:311200 {source="MONDO:equivalentTo"} xref: Orphanet:140997 {source="MONDO:equivalentTo"} xref: SCTID:52868006 {source="MONDO:equivalentTo"} -xref: UMLS:C0029294 {source="DOID:4501", source="MONDO:notFoundInDiseaseSubset", source="ORDO:140997/e", source="Orphanet:140997"} +xref: UMLS:C0029294 {source="Orphanet:140997/e", source="DOID:4501", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:140997"} is_a: MONDO:0015334 {source="Orphanet:140997"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015498 {source="Orphanet:140997"} ! oromandibular-limb anomalies syndrome relationship: disease_has_feature HP:0000113 ! Polycystic kidney dysplasia @@ -305243,7 +305084,7 @@ name: first branchial cleft anomaly subset: ordo_morphological_anomaly {source="Orphanet:141013"} synonym: "first branchial cleft cyst" EXACT [Orphanet:141013] synonym: "first branchial cleft fistula" EXACT [Orphanet:141013] -xref: ICD10CM:Q18.0 {source="ORDO:141013/ntbt", source="Orphanet:141013"} +xref: ICD10CM:Q18.0 {source="Orphanet:141013", source="Orphanet:141013/ntbt"} xref: Orphanet:141013 {source="MONDO:equivalentTo"} xref: SCTID:73371000119103 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141013"} ! cysts and fistulae of the face and oral cavity @@ -305254,7 +305095,7 @@ name: third branchial cleft anomaly subset: ordo_morphological_anomaly {source="Orphanet:141030"} synonym: "third branchial cleft cyst" EXACT [Orphanet:141030] synonym: "third branchial cleft fistula" EXACT [Orphanet:141030] -xref: ICD10CM:Q18.0 {source="Orphanet:141030", source="ORDO:141030/ntbt"} +xref: ICD10CM:Q18.0 {source="Orphanet:141030", source="Orphanet:141030/ntbt"} xref: Orphanet:141030 {source="MONDO:equivalentTo"} xref: SCTID:73391000119102 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141030"} ! cysts and fistulae of the face and oral cavity @@ -305265,7 +305106,7 @@ name: fourth branchial cleft anomaly subset: ordo_morphological_anomaly {source="Orphanet:141037"} synonym: "fourth branchial cleft cyst" EXACT [Orphanet:141037] synonym: "fourth branchial cleft fistula" EXACT [Orphanet:141037] -xref: ICD10CM:Q18.0 {source="ORDO:141037/ntbt", source="Orphanet:141037"} +xref: ICD10CM:Q18.0 {source="Orphanet:141037", source="Orphanet:141037/ntbt"} xref: Orphanet:141037 {source="MONDO:equivalentTo"} xref: SCTID:707234001 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141037"} ! cysts and fistulae of the face and oral cavity @@ -305276,7 +305117,7 @@ name: cervical dermoid cyst def: "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." [Orphanet:141046] subset: ordo_morphological_anomaly {source="Orphanet:141046"} synonym: "dermoid cyst of the neck" EXACT [Orphanet:141046] -xref: ICD10CM:Q18.8 {source="ORDO:141046/ntbt", source="Orphanet:141046"} +xref: ICD10CM:Q18.8 {source="Orphanet:141046", source="Orphanet:141046/ntbt"} xref: Orphanet:141046 {source="MONDO:equivalentTo"} xref: SCTID:763129001 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141046"} ! cysts and fistulae of the face and oral cavity @@ -305289,7 +305130,7 @@ name: facial dermoid cyst def: "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area." [Orphanet:141051] subset: ordo_morphological_anomaly {source="Orphanet:141051"} synonym: "dermoid cyst of the face" EXACT [Orphanet:141051] -xref: ICD10CM:Q18.8 {source="Orphanet:141051", source="ORDO:141051/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:141051", source="Orphanet:141051/ntbt"} xref: Orphanet:141051 {source="MONDO:equivalentTo"} xref: SCTID:763220008 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141051"} ! cysts and fistulae of the face and oral cavity @@ -305303,7 +305144,7 @@ def: "A cysts and fistulae of the face and oral cavity that involves the labial subset: ordo_morphological_anomaly {source="Orphanet:141061"} synonym: "cysts and fistulae of the face and oral cavity of labial commissure" EXACT [MONDO:design_pattern] synonym: "labial commissure cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location] -xref: ICD10CM:Q38.0 {source="ORDO:141061/ntbt", source="Orphanet:141061"} +xref: ICD10CM:Q38.0 {source="Orphanet:141061/ntbt", source="Orphanet:141061"} xref: Orphanet:141061 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141061"} ! cysts and fistulae of the face and oral cavity intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity @@ -305316,7 +305157,7 @@ def: "A cysts and fistulae of the face and oral cavity that involves the lower l subset: ordo_morphological_anomaly {source="Orphanet:141064"} synonym: "cysts and fistulae of the face and oral cavity of lower lip" EXACT [MONDO:design_pattern] synonym: "lower lip cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location] -xref: ICD10CM:Q38.0 {source="Orphanet:141064", source="ORDO:141064/ntbt"} +xref: ICD10CM:Q38.0 {source="Orphanet:141064/ntbt", source="Orphanet:141064"} xref: Orphanet:141064 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141064"} ! cysts and fistulae of the face and oral cavity intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity @@ -305340,7 +305181,7 @@ synonym: "enteric duplication cyst of the tongue" EXACT [Orphanet:141071] synonym: "foregut duplication cyst of the tongue" EXACT [Orphanet:141071] synonym: "gastric duplication cyst of the tongue" EXACT [Orphanet:141071] synonym: "tongue cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location] -xref: ICD10CM:Q38.3 {source="ORDO:141071/ntbt", source="Orphanet:141071"} +xref: ICD10CM:Q38.3 {source="Orphanet:141071/ntbt", source="Orphanet:141071"} xref: Orphanet:141071 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141071"} ! cysts and fistulae of the face and oral cavity intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity @@ -305351,9 +305192,9 @@ id: MONDO:0015385 name: external auditory canal aplasia/hypoplasia subset: ordo_morphological_anomaly {source="Orphanet:141074"} synonym: "external auditory canal stenosis/atresia" EXACT [Orphanet:141074] -xref: ICD10CM:Q16.1 {source="Orphanet:141074", source="ORDO:141074/e", source="ORDO:141074/specific"} -xref: OMIM:108760 {source="Orphanet:141074", source="MONDO:superClassOf", source="ORDO:141074/btnt"} -xref: OMIM:607842 {source="Orphanet:141074", source="MONDO:superClassOf", source="ORDO:141074/btnt"} +xref: ICD10CM:Q16.1 {source="Orphanet:141074", source="Orphanet:141074/e", source="Orphanet:141074/specific"} +xref: OMIM:108760 {source="Orphanet:141074", source="Orphanet:141074/btnt", source="MONDO:superClassOf"} +xref: OMIM:607842 {source="Orphanet:141074", source="Orphanet:141074/btnt", source="MONDO:superClassOf"} xref: Orphanet:141074 {source="MONDO:equivalentTo"} is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis @@ -305368,10 +305209,10 @@ synonym: "Epignathus" EXACT [MONDO:ambiguous] synonym: "epignathus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "oropharyngeal teratoma" EXACT [Orphanet:141077] xref: HP:0030767 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D37.0 {source="Orphanet:141077", source="ORDO:141077/ntbt"} +xref: ICD10CM:D37.0 {source="Orphanet:141077/ntbt", source="Orphanet:141077"} xref: Orphanet:141077 {source="MONDO:equivalentTo"} xref: SCTID:31248004 {source="MONDO:equivalentTo"} -xref: UMLS:C0266725 {source="ORDO:141077/e", source="Orphanet:141077", source="MONDO:equivalentTo"} +xref: UMLS:C0266725 {source="Orphanet:141077", source="MONDO:equivalentTo", source="Orphanet:141077/e"} is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm is_a: MONDO:0019500 {source="Orphanet:141077"} ! extragonadal teratoma is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease @@ -305385,7 +305226,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:141083"} synonym: "dacryocele" EXACT [Orphanet:141083] synonym: "dacryocystocele" EXACT [Orphanet:141083] synonym: "nasolacrimal mucocele" EXACT [Orphanet:141083] -xref: ICD10CM:H04.6 {source="ORDO:141083/ntbt", source="Orphanet:141083"} +xref: ICD10CM:H04.6 {source="Orphanet:141083/ntbt", source="Orphanet:141083"} xref: Orphanet:141083 {source="MONDO:equivalentTo"} xref: UMLS:C0155241 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141083"} is_a: MONDO:0015503 {source="Orphanet:141083"} ! nose and cavum anomaly @@ -305399,7 +305240,7 @@ def: "Polyrrhinia is an extremely rare, major congenital malformation characteri subset: ordo_malformation_syndrome {source="Orphanet:141091"} synonym: "Double nose" EXACT [Orphanet:141091] synonym: "Polyrhinia" EXACT [Orphanet:141091] -xref: ICD10CM:Q30.8 {source="ORDO:141091/ntbt", source="Orphanet:141091"} +xref: ICD10CM:Q30.8 {source="Orphanet:141091/ntbt", source="Orphanet:141091"} xref: Orphanet:141091 {source="MONDO:equivalentTo"} xref: SCTID:716279002 {source="MONDO:equivalentTo"} is_a: MONDO:0015503 {source="Orphanet:141091"} ! nose and cavum anomaly @@ -305412,7 +305253,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:141096"} synonym: "accessory nostril" EXACT [Orphanet:141096] synonym: "supernumerary naris" EXACT [HP:0009934] xref: HP:0009934 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q30.8 {source="Orphanet:141096", source="ORDO:141096/ntbt"} +xref: ICD10CM:Q30.8 {source="Orphanet:141096", source="Orphanet:141096/ntbt"} xref: Orphanet:141096 {source="MONDO:equivalentTo"} xref: SCTID:719163006 {source="MONDO:equivalentTo"} xref: UMLS:CN226671 {source="MONDO:equivalentTo"} @@ -305424,7 +305265,7 @@ name: proboscis lateralis def: "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." [Orphanet:141099] subset: ordo_malformation_syndrome {source="Orphanet:141099"} synonym: "congenital tubular nose" EXACT [Orphanet:141099] -xref: ICD10CM:Q30.8 {source="Orphanet:141099", source="ORDO:141099/ntbt"} +xref: ICD10CM:Q30.8 {source="Orphanet:141099/ntbt", source="Orphanet:141099"} xref: Orphanet:141099 {source="MONDO:equivalentTo"} xref: SCTID:715828006 {source="MONDO:equivalentTo"} xref: UMLS:C4274985 {source="MONDO:equivalentTo"} @@ -305437,7 +305278,7 @@ def: "A teratoma that involves the nasopharynx." [MONDO:patterns/location] subset: ordo_clinical_subtype {source="Orphanet:141107"} synonym: "nasopharynx teratoma" EXACT [MONDO:patterns/location] synonym: "teratoma of the nasopharynx" EXACT [Orphanet:141107] -xref: ICD10CM:D10.6 {source="ORDO:141107/ntbt", source="MONDO:relatedTo", source="Orphanet:141107"} +xref: ICD10CM:D10.6 {source="MONDO:relatedTo", source="Orphanet:141107/ntbt", source="Orphanet:141107"} xref: Orphanet:141107 {source="MONDO:equivalentTo"} xref: UMLS:C4531264 {source="MONDO:equivalentTo"} is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm @@ -305455,7 +305296,7 @@ synonym: "nasal glioma" EXACT [Orphanet:141112] xref: ICD9:748.1 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:141112 {source="MONDO:equivalentTo"} xref: SCTID:5645008 {source="MONDO:equivalentTo"} -xref: UMLS:C0266490 {source="ORDO:141112/e", source="MONDO:equivalentTo", source="Orphanet:141112"} +xref: UMLS:C0266490 {source="MONDO:equivalentTo", source="Orphanet:141112", source="Orphanet:141112/e"} is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm is_a: MONDO:0015503 {source="Orphanet:141112"} ! nose and cavum anomaly is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease @@ -305475,10 +305316,10 @@ id: MONDO:0015394 name: nasal encephalocele def: "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." [Orphanet:141118] subset: ordo_clinical_subtype {source="Orphanet:141118"} -xref: ICD10CM:Q01.1 {source="ORDO:141118/e", source="ORDO:141118/specific", source="Orphanet:141118"} +xref: ICD10CM:Q01.1 {source="Orphanet:141118/specific", source="Orphanet:141118/e", source="Orphanet:141118"} xref: Orphanet:141118 {source="MONDO:equivalentTo"} xref: SCTID:65455002 {source="MONDO:equivalentTo"} -xref: UMLS:C0014066 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:141118/e", source="Orphanet:141118"} +xref: UMLS:C0014066 {source="Orphanet:141118/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141118"} is_a: MONDO:0015503 {source="Orphanet:141118"} ! nose and cavum anomaly is_a: MONDO:0016057 {source="Orphanet:141118"} ! isolated encephalocele @@ -305486,12 +305327,12 @@ is_a: MONDO:0016057 {source="Orphanet:141118"} ! isolated encephalocele id: MONDO:0015395 name: congenital subglottic stenosis subset: ordo_malformation_syndrome {source="Orphanet:141121"} -xref: ICD10CM:Q31.1 {source="ORDO:141121/e", source="Orphanet:141121", source="MONDO:equivalentTo"} +xref: ICD10CM:Q31.1 {source="Orphanet:141121", source="MONDO:equivalentTo", source="Orphanet:141121/e"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:141121 {source="MONDO:equivalentTo"} xref: SCTID:204552001 {source="MONDO:equivalentTo"} xref: UMLS:C0238441 {source="Orphanet:141121", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0396051 {source="ORDO:141121/e", source="Orphanet:141121", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0396051 {source="Orphanet:141121", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141121/e"} is_a: MONDO:0015504 {source="Orphanet:141121"} ! larynx anomaly relationship: disease_has_location UBERON:0036068 ! subglottis relationship: disease_has_major_feature HP:0001607 ! Subglottic stenosis @@ -305503,7 +305344,7 @@ id: MONDO:0015396 name: congenital laryngeal cyst def: "Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia." [Orphanet:141124] subset: ordo_malformation_syndrome {source="Orphanet:141124"} -xref: ICD10CM:Q31.8 {source="ORDO:141124/ntbt", source="Orphanet:141124"} +xref: ICD10CM:Q31.8 {source="Orphanet:141124", source="Orphanet:141124/ntbt"} xref: Orphanet:141124 {source="MONDO:equivalentTo"} xref: SCTID:765763007 {source="MONDO:equivalentTo"} xref: UMLS:C0339880 {source="MONDO:equivalentTo", source="Orphanet:141124"} @@ -305546,11 +305387,11 @@ synonym: "unilateral or bilateral and asymmetric otomandibular dysplasia" EXACT xref: DOID:2907 {source="MONDO:equivalentTo"} xref: GARD:0006540 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0012074 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: ICD10CM:Q87.0 {source="DOID:2907", source="ORDO:374/inclusion", source="ORDO:374/ntbt", source="Orphanet:374"} +xref: ICD10CM:Q87.0 {source="DOID:2907", source="Orphanet:374/inclusion", source="Orphanet:374/ntbt", source="Orphanet:374"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D006053 {source="DOID:2907", source="MONDO:equivalentTo", source="ORDO:374/e", source="Orphanet:374"} +xref: MESH:D006053 {source="DOID:2907", source="Orphanet:374/e", source="MONDO:equivalentTo", source="Orphanet:374"} xref: NCIT:C84740 {source="DOID:2907", source="MONDO:equivalentTo"} -xref: OMIM:164210 {source="DOID:2907", source="MONDO:equivalentTo", source="ORDO:374/e", source="Orphanet:374"} +xref: OMIM:164210 {source="DOID:2907", source="Orphanet:374/e", source="MONDO:equivalentTo", source="Orphanet:374"} xref: Orphanet:141132 {source="MONDO:equivalentTo"} xref: Orphanet:374 {source="DOID:2907", source="MONDO:equivalentObsolete", source="OMIM:164210"} xref: SCTID:109393007 {source="DOID:2907", source="MONDO:directSiblingOf"} @@ -305560,8 +305401,8 @@ xref: SCTID:254025006 {source="DOID:2907"} xref: SCTID:254026007 {source="DOID:2907"} xref: SCTID:367462009 {source="DOID:2907", source="MONDO:equivalentTo"} xref: SCTID:46567003 {source="DOID:2907"} -xref: UMLS:C0265240 {source="DOID:2907", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164210", source="ORDO:374/e", source="NCIT:C84740", source="Orphanet:374"} -xref: UMLS:C0432130 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:374/e", source="Orphanet:374"} +xref: UMLS:C0265240 {source="DOID:2907", source="Orphanet:374/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:164210", source="NCIT:C84740", source="Orphanet:374"} +xref: UMLS:C0432130 {source="Orphanet:374/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:374"} xref: UMLS:C3495417 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:164210"} is_a: MONDO:0002254 {source="DOID:2907", source="MONDO:Redundant", source="NCIT:C84740", source="indirect"} ! syndromic disease is_a: MONDO:0007712 ! oculoauriculovertebral spectrum with radial defects @@ -305587,7 +305428,7 @@ synonym: "Laterofacial microsomia" EXACT [Orphanet:141136] synonym: "otomandibular dysostosis" EXACT [Orphanet:141136] synonym: "otomandibular syndrome" EXACT [Orphanet:141136] xref: GARD:0006582 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:141136/attributed", source="ORDO:141136/ntbt", source="Orphanet:141136"} +xref: ICD10CM:Q75.8 {source="Orphanet:141136", source="Orphanet:141136/attributed", source="Orphanet:141136/ntbt"} xref: Orphanet:141136 {source="MONDO:equivalentTo"} xref: SCTID:109393007 {source="MONDO:equivalentTo"} xref: UMLS:CN199493 {source="MONDO:equivalentTo"} @@ -305599,7 +305440,7 @@ name: glossopalatine ankylosis def: "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." [Orphanet:141163] subset: ordo_malformation_syndrome {source="Orphanet:141163"} synonym: "Cosack syndrome" EXACT [Orphanet:141163] -xref: ICD10CM:Q38.3 {source="Orphanet:141163", source="ORDO:141163/attributed", source="ORDO:141163/ntbt"} +xref: ICD10CM:Q38.3 {source="Orphanet:141163/attributed", source="Orphanet:141163/ntbt", source="Orphanet:141163"} xref: Orphanet:141163 {source="MONDO:equivalentTo"} xref: SCTID:717814004 {source="MONDO:equivalentTo"} xref: UMLS:C4303569 {source="MONDO:equivalentTo"} @@ -305611,7 +305452,7 @@ id: MONDO:0015400 name: frontonasal arteriovenous malformation def: "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." [Orphanet:141168] subset: ordo_malformation_syndrome {source="Orphanet:141168"} -xref: ICD10CM:Q27.3 {source="ORDO:141168/ntbt", source="Orphanet:141168"} +xref: ICD10CM:Q27.3 {source="Orphanet:141168", source="Orphanet:141168/ntbt"} xref: Orphanet:141168 {source="MONDO:equivalentTo"} is_a: MONDO:0015500 {source="Orphanet:141168"} ! facial arteriovenous malformation @@ -305621,7 +305462,7 @@ name: maxillary arteriovenous malformation def: "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." [Orphanet:141171] subset: ordo_malformation_syndrome {source="Orphanet:141171"} synonym: "arteriovenous malformation of maxilla" EXACT [Orphanet:141171] -xref: ICD10CM:Q27.3 {source="ORDO:141171/ntbt", source="Orphanet:141171"} +xref: ICD10CM:Q27.3 {source="Orphanet:141171/ntbt", source="Orphanet:141171"} xref: Orphanet:141171 {source="MONDO:equivalentTo"} xref: SCTID:703335004 {source="MONDO:equivalentTo"} is_a: MONDO:0015500 {source="Orphanet:141171"} ! facial arteriovenous malformation @@ -305632,7 +305473,7 @@ name: mandibular arteriovenous malformation def: "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." [Orphanet:141174] subset: ordo_malformation_syndrome {source="Orphanet:141174"} synonym: "arteriovenous malformation of mandible" EXACT [Orphanet:141174] -xref: ICD10CM:Q27.3 {source="Orphanet:141174", source="ORDO:141174/ntbt"} +xref: ICD10CM:Q27.3 {source="Orphanet:141174/ntbt", source="Orphanet:141174"} xref: Orphanet:141174 {source="MONDO:equivalentTo"} xref: SCTID:703334000 {source="MONDO:equivalentTo"} is_a: MONDO:0015500 {source="Orphanet:141174"} ! facial arteriovenous malformation @@ -305646,10 +305487,10 @@ subset: ordo_disease {source="Orphanet:141179"} synonym: "NICH" EXACT ABBREVIATION [GARD:0010890, https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141179] synonym: "noninvoluting congenital hemangioma" EXACT [GARD:0010890] xref: GARD:0010890 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="ORDO:141179/ntbt", source="Orphanet:141179"} +xref: ICD10CM:D18.0 {source="Orphanet:141179", source="Orphanet:141179/ntbt"} xref: Orphanet:141179 {source="GARD:0010890", source="MONDO:equivalentTo"} xref: SCTID:703295003 {source="MONDO:equivalentTo"} -xref: UMLS:C1275417 {source="MONDO:equivalentTo", source="Orphanet:141179", source="ORDO:141179/e"} +xref: UMLS:C1275417 {source="MONDO:equivalentTo", source="Orphanet:141179", source="Orphanet:141179/e"} is_a: MONDO:0018715 {source="Orphanet:141179", source="linkedlifedata"} ! congenital hemangioma relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -305661,10 +305502,10 @@ name: rapidly involuting congenital hemangioma def: "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution." [Orphanet:141184] subset: ordo_disease {source="Orphanet:141184"} synonym: "rich" EXACT [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141184] -xref: ICD10CM:D18.0 {source="Orphanet:141184", source="ORDO:141184/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:141184", source="Orphanet:141184/ntbt"} xref: Orphanet:141184 {source="MONDO:equivalentTo"} xref: SCTID:703294004 {source="MONDO:equivalentTo"} -xref: UMLS:C1275421 {source="Orphanet:141184", source="ORDO:141184/e", source="MONDO:equivalentTo"} +xref: UMLS:C1275421 {source="Orphanet:141184", source="MONDO:equivalentTo", source="Orphanet:141184/e"} is_a: MONDO:0018715 {source="Orphanet:141184", source="linkedlifedata"} ! congenital hemangioma relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -305676,7 +305517,7 @@ def: "A disorder characterized by vascular malformations that encompasses a spec subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:141189"} synonym: "CAMS" EXACT ABBREVIATION [Orphanet:141189] -xref: ICD10CM:Q28.2 {source="ORDO:141189/ntbt", source="Orphanet:141189"} +xref: ICD10CM:Q28.2 {source="Orphanet:141189", source="Orphanet:141189/ntbt"} xref: Orphanet:141189 {source="MONDO:equivalentTo"} xref: SCTID:703266007 {source="MONDO:equivalentTo"} xref: UMLS:C3839265 {source="MONDO:equivalentTo"} @@ -305690,7 +305531,7 @@ id: MONDO:0015406 name: cerebrofacial arteriovenous metameric syndrome type 1 subset: ordo_malformation_syndrome {source="Orphanet:141194"} synonym: "CAMS1" EXACT ABBREVIATION [Orphanet:141194] -xref: ICD10CM:Q28.2 {source="Orphanet:141194", source="ORDO:141194/ntbt"} +xref: ICD10CM:Q28.2 {source="Orphanet:141194", source="Orphanet:141194/ntbt"} xref: Orphanet:141194 {source="MONDO:equivalentTo"} xref: SCTID:703267003 {source="MONDO:equivalentTo"} xref: UMLS:C3840102 {source="MONDO:equivalentTo"} @@ -305702,7 +305543,7 @@ id: MONDO:0015407 name: cerebrofacial arteriovenous metameric syndrome type 3 subset: ordo_malformation_syndrome {source="Orphanet:141199"} synonym: "CAMS3" EXACT ABBREVIATION [Orphanet:141199] -xref: ICD10CM:Q28.2 {source="Orphanet:141199", source="ORDO:141199/ntbt"} +xref: ICD10CM:Q28.2 {source="Orphanet:141199/ntbt", source="Orphanet:141199"} xref: Orphanet:141199 {source="MONDO:equivalentTo"} xref: SCTID:703268008 {source="MONDO:equivalentTo"} xref: UMLS:C3838691 {source="MONDO:equivalentTo"} @@ -305720,7 +305561,7 @@ synonym: "disseminated lymphangiomatosis" EXACT [Orphanet:141209] synonym: "disseminated lymphatic malformation" EXACT [Orphanet:141209] synonym: "generalized lymphatic anomaly" EXACT [Orphanet:141209] synonym: "Gla" EXACT [Orphanet:141209] -xref: ICD10CM:I89.8 {source="ORDO:141209/ntbt", source="Orphanet:141209"} +xref: ICD10CM:I89.8 {source="Orphanet:141209/ntbt", source="Orphanet:141209"} xref: Orphanet:141209 {source="MONDO:equivalentTo"} xref: SCTID:703298001 {source="MONDO:equivalentTo"} xref: UMLS:C0343090 {source="MONDO:equivalentTo"} @@ -305732,7 +305573,7 @@ name: isolated congenital syngnathia def: "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." [Orphanet:141214] subset: ordo_malformation_syndrome {source="Orphanet:141214"} synonym: "isolated congenital maxillomandibular fusion" EXACT [Orphanet:141214] -xref: ICD10CM:Q67.4 {source="ORDO:141214/ntbt", source="Orphanet:141214"} +xref: ICD10CM:Q67.4 {source="Orphanet:141214", source="Orphanet:141214/ntbt"} xref: Orphanet:141214 {source="MONDO:equivalentTo"} xref: SCTID:763317002 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="Orphanet:141214"} ! disorder of development or morphogenesis @@ -305745,7 +305586,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0015410 name: nasal dorsum fistula/cyst subset: ordo_morphological_anomaly {source="Orphanet:141219"} -xref: ICD10CM:Q18.8 {source="ORDO:141219/ntbt", source="Orphanet:141219"} +xref: ICD10CM:Q18.8 {source="Orphanet:141219/ntbt", source="Orphanet:141219"} xref: Orphanet:141219 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141219"} ! cysts and fistulae of the face and oral cavity @@ -305758,11 +305599,11 @@ subset: ordo_group_of_disorders {source="Orphanet:141229"} synonym: "cleft face" EXACT [NCIT:C124510] synonym: "craniofacial cleft" EXACT [Orphanet:141229] synonym: "prosoposchisis" EXACT [NCIT:C124510] -xref: ICD10CM:Q18.8 {source="Orphanet:141229", source="ORDO:141229/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:141229/ntbt", source="Orphanet:141229"} xref: NCIT:C124510 {source="MONDO:equivalentTo"} xref: Orphanet:141229 {source="MONDO:equivalentTo"} xref: SCTID:92821006 {source="MONDO:equivalentTo"} -xref: UMLS:C0685787 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141229", source="ORDO:141229/e"} +xref: UMLS:C0685787 {source="Orphanet:141229/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141229"} is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton @@ -305773,7 +305614,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:141234"} synonym: "Midline facial cleft" EXACT [Orphanet:141234] synonym: "Tessier number 0-14 and 30 facial cleft" EXACT [Orphanet:141234] -xref: ICD10CM:Q18.8 {source="ORDO:141234/ntbt", source="Orphanet:141234"} +xref: ICD10CM:Q18.8 {source="Orphanet:141234", source="Orphanet:141234/ntbt"} xref: Orphanet:141234 {source="MONDO:equivalentTo"} is_a: MONDO:0015411 {source="Orphanet:141234"} ! facial cleft @@ -305782,7 +305623,7 @@ id: MONDO:0015413 name: median cleft of the upper lip and maxilla def: "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." [Orphanet:141239] subset: ordo_morphological_anomaly {source="Orphanet:141239"} -xref: ICD10CM:Q18.8 {source="ORDO:141239/ntbt", source="Orphanet:141239"} +xref: ICD10CM:Q18.8 {source="Orphanet:141239/ntbt", source="Orphanet:141239"} xref: Orphanet:141239 {source="MONDO:equivalentTo"} is_a: MONDO:0015412 {source="Orphanet:141239"} ! median facial cleft @@ -305797,7 +305638,7 @@ synonym: "cleft nose" EXACT [Orphanet:141242] synonym: "isolated cleft of the ala nasi" EXACT [Orphanet:141242] synonym: "isolated coloboma of the nose" EXACT [Orphanet:141242] synonym: "Tessier number 1 cleft" EXACT [Orphanet:141242] -xref: ICD10CM:Q18.8 {source="Orphanet:141242", source="ORDO:141242/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:141242/ntbt", source="Orphanet:141242"} xref: ICD9:748.1 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:141242 {source="MONDO:equivalentTo"} xref: SCTID:204521002 {source="MONDO:equivalentTo"} @@ -305811,7 +305652,7 @@ name: oblique facial cleft subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:141253"} synonym: "Orbitofacial cleft" EXACT [Orphanet:141253] -xref: ICD10CM:Q18.8 {source="Orphanet:141253", source="ORDO:141253/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:141253/ntbt", source="Orphanet:141253"} xref: Orphanet:141253 {source="MONDO:equivalentTo"} is_a: MONDO:0015411 {source="Orphanet:141253"} ! facial cleft @@ -305819,7 +305660,7 @@ is_a: MONDO:0015411 {source="Orphanet:141253"} ! facial cleft id: MONDO:0015416 name: Tessier number 5 facial cleft subset: ordo_morphological_anomaly {source="Orphanet:141261"} -xref: ICD10CM:Q18.8 {source="Orphanet:141261", source="ORDO:141261/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:141261", source="Orphanet:141261/ntbt"} xref: Orphanet:141261 {source="MONDO:equivalentTo"} is_a: MONDO:0015415 {source="Orphanet:141261"} ! oblique facial cleft @@ -305827,7 +305668,7 @@ is_a: MONDO:0015415 {source="Orphanet:141261"} ! oblique facial cleft id: MONDO:0015417 name: Tessier number 6 facial cleft subset: ordo_morphological_anomaly {source="Orphanet:141265"} -xref: ICD10CM:Q18.8 {source="Orphanet:141265", source="ORDO:141265/ntbt"} +xref: ICD10CM:Q18.8 {source="Orphanet:141265/ntbt", source="Orphanet:141265"} xref: Orphanet:141265 {source="MONDO:equivalentTo"} is_a: MONDO:0015415 {source="Orphanet:141265"} ! oblique facial cleft @@ -305838,7 +305679,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:141269"} synonym: "Tessier number 7 facial cleft" EXACT [Orphanet:141269] synonym: "transverse facial cleft" EXACT [Orphanet:141269] -xref: ICD10CM:Q18.8 {source="ORDO:141269/attributed", source="ORDO:141269/ntbt", source="Orphanet:141269"} +xref: ICD10CM:Q18.8 {source="Orphanet:141269", source="Orphanet:141269/attributed", source="Orphanet:141269/ntbt"} xref: Orphanet:141269 {source="MONDO:equivalentTo"} is_a: MONDO:0015411 {source="Orphanet:141269"} ! facial cleft is_a: MONDO:0015961 {source="Orphanet:141269", source="Orphanet:141269/inferred"} ! genetic head and neck malformation @@ -305848,11 +305689,11 @@ id: MONDO:0015419 name: midline cervical cleft def: "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." [Orphanet:141288] subset: ordo_morphological_anomaly {source="Orphanet:141288"} -xref: ICD10CM:Q18.8 {source="ORDO:141288/ntbt", source="Orphanet:141288"} +xref: ICD10CM:Q18.8 {source="Orphanet:141288", source="Orphanet:141288/ntbt"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:141288 {source="MONDO:equivalentTo"} xref: SCTID:403557001 {source="MONDO:equivalentTo"} -xref: UMLS:C1274890 {source="ORDO:141288/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141288"} +xref: UMLS:C1274890 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141288", source="Orphanet:141288/e"} is_a: MONDO:0015412 {source="Orphanet:141288"} ! median facial cleft [Term] @@ -305860,22 +305701,22 @@ id: MONDO:0015420 name: cleft lip and alveolus def: "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees." [Orphanet:141291] subset: ordo_morphological_anomaly {source="Orphanet:141291"} -xref: ICD10CM:Q36.0 {source="ORDO:141291/btnt", source="Orphanet:141291"} -xref: ICD10CM:Q36.1 {source="ORDO:141291/btnt", source="Orphanet:141291"} -xref: ICD10CM:Q36.9 {source="ORDO:141291/btnt", source="Orphanet:141291"} +xref: ICD10CM:Q36.0 {source="Orphanet:141291/btnt", source="Orphanet:141291"} +xref: ICD10CM:Q36.1 {source="Orphanet:141291/btnt", source="Orphanet:141291"} +xref: ICD10CM:Q36.9 {source="Orphanet:141291/btnt", source="Orphanet:141291"} xref: ICD9:525.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:119530 {source="MONDO:superClassOf", source="ORDO:141291/nd", source="Orphanet:141291"} -xref: OMIM:129400 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:141291/ntbt", source="Orphanet:141291"} -xref: OMIM:225060 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:141291/ntbt", source="Orphanet:141291"} -xref: OMIM:600757 {source="MONDO:superClassOf", source="ORDO:141291/nd", source="Orphanet:141291"} -xref: OMIM:602966 {source="MONDO:superClassOf", source="ORDO:141291/nd", source="Orphanet:141291"} -xref: OMIM:608371 {source="MONDO:superClassOf", source="ORDO:141291/nd", source="Orphanet:141291"} -xref: OMIM:608874 {source="MONDO:superClassOf", source="ORDO:141291/btnt", source="Orphanet:141291"} -xref: OMIM:610361 {source="MONDO:superClassOf", source="ORDO:141291/nd", source="Orphanet:141291"} -xref: OMIM:612858 {source="MONDO:superClassOf", source="ORDO:141291/nd", source="Orphanet:141291"} +xref: OMIM:119530 {source="Orphanet:141291/nd", source="MONDO:superClassOf", source="Orphanet:141291"} +xref: OMIM:129400 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:141291/ntbt", source="Orphanet:141291"} +xref: OMIM:225060 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:141291/ntbt", source="Orphanet:141291"} +xref: OMIM:600757 {source="Orphanet:141291/nd", source="MONDO:superClassOf", source="Orphanet:141291"} +xref: OMIM:602966 {source="Orphanet:141291/nd", source="MONDO:superClassOf", source="Orphanet:141291"} +xref: OMIM:608371 {source="Orphanet:141291/nd", source="MONDO:superClassOf", source="Orphanet:141291"} +xref: OMIM:608874 {source="Orphanet:141291/btnt", source="MONDO:superClassOf", source="Orphanet:141291"} +xref: OMIM:610361 {source="Orphanet:141291/nd", source="MONDO:superClassOf", source="Orphanet:141291"} +xref: OMIM:612858 {source="Orphanet:141291/nd", source="MONDO:superClassOf", source="Orphanet:141291"} xref: Orphanet:141291 {source="MONDO:equivalentTo"} xref: SCTID:373643003 {source="MONDO:equivalentTo"} -xref: UMLS:C1298692 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:141291/e", source="Orphanet:141291"} +xref: UMLS:C1298692 {source="Orphanet:141291/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141291"} is_a: MONDO:0016034 {source="Orphanet:141291"} ! cleft lip with or without cleft palate property_value: confidence "1.7876687750502525" xsd:double @@ -305894,11 +305735,11 @@ synonym: "oral-facial-digital syndrome type 12" EXACT [Orphanet:141327] synonym: "orofaciodigital syndrome 12" RELATED [GARD:0010693] synonym: "orofaciodigital syndrome XII" RELATED [GARD:0010693] xref: GARD:0010693 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:141327/attributed", source="ORDO:141327/ntbt", source="Orphanet:141327"} -xref: MESH:C548034 {source="MONDO:equivalentTo", source="ORDO:141327/e", source="Orphanet:141327"} +xref: ICD10CM:Q87.0 {source="Orphanet:141327/attributed", source="Orphanet:141327/ntbt", source="Orphanet:141327"} +xref: MESH:C548034 {source="Orphanet:141327/e", source="MONDO:equivalentTo", source="Orphanet:141327"} xref: Orphanet:141327 {source="MONDO:equivalentTo"} xref: SCTID:763834000 {source="MONDO:equivalentTo"} -xref: UMLS:C2932679 {source="MONDO:equivalentTo", source="ORDO:141327/e", source="Orphanet:141327"} +xref: UMLS:C2932679 {source="Orphanet:141327/e", source="MONDO:equivalentTo", source="Orphanet:141327"} is_a: MONDO:0015375 {source="MESH:C548034", source="Orphanet:141327"} ! orofaciodigital syndrome [Term] @@ -305918,11 +305759,11 @@ synonym: "oral-facial-digital syndrome XIII" RELATED [GARD:0010694] synonym: "orofaciodigital syndrome 13" RELATED [GARD:0010694] synonym: "orofaciodigital syndrome XIII" RELATED [GARD:0010694] xref: GARD:0010694 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:141330", source="ORDO:141330/attributed", source="ORDO:141330/ntbt"} -xref: MESH:C548035 {source="ORDO:141330/e", source="Orphanet:141330", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:141330/attributed", source="Orphanet:141330/ntbt", source="Orphanet:141330"} +xref: MESH:C548035 {source="Orphanet:141330", source="MONDO:equivalentTo", source="Orphanet:141330/e"} xref: Orphanet:141330 {source="MONDO:equivalentTo"} xref: SCTID:763835004 {source="MONDO:equivalentTo"} -xref: UMLS:C2932680 {source="ORDO:141330/e", source="Orphanet:141330", source="MONDO:equivalentTo"} +xref: UMLS:C2932680 {source="Orphanet:141330", source="MONDO:equivalentTo", source="Orphanet:141330/e"} is_a: MONDO:0015375 {source="MESH:C548035", source="Orphanet:141330"} ! orofaciodigital syndrome [Term] @@ -305940,7 +305781,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1420"} synonym: "lethal chondrodysplasia Moerman type" RELATED [GARD:0003225] synonym: "Moerman-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1420] xref: GARD:0003225 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="Orphanet:1420", source="ORDO:1420/attributed", source="ORDO:1420/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:1420", source="Orphanet:1420/attributed", source="Orphanet:1420/ntbt"} xref: Orphanet:1420 {source="MONDO:equivalentTo"} xref: UMLS:CN199519 {source="MONDO:equivalentTo"} is_a: MONDO:0019718 {source="Orphanet:1420"} ! lethal chondrodysplasia @@ -305955,7 +305796,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1423"} synonym: "chondrodysplasia lethal recessive" EXACT [MONDO:0022725] synonym: "Maroteaux-Stanescu-Cousin syndrome" EXACT [Orphanet:1423] xref: GARD:0001294 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:1423/attributed", source="ORDO:1423/ntbt", source="Orphanet:1423"} +xref: ICD10CM:Q78.8 {source="Orphanet:1423", source="Orphanet:1423/attributed", source="Orphanet:1423/ntbt"} xref: Orphanet:1423 {source="MONDO:equivalentTo"} xref: SCTID:719404009 {source="MONDO:equivalentTo"} xref: UMLS:C4304745 {source="MONDO:equivalentTo"} @@ -305977,17 +305818,17 @@ synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and a synonym: "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [GARD:0001818] xref: DOID:0060462 {source="MONDO:equivalentTo"} xref: GARD:0001818 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:1425/attributed", source="ORDO:1425/ntbt", source="Orphanet:1425"} +xref: ICD10CM:Q78.8 {source="Orphanet:1425", source="Orphanet:1425/attributed", source="Orphanet:1425/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535943 {source="DOID:0060462", source="ORDO:1425/e", source="Orphanet:1425"} +xref: MESH:C535943 {source="DOID:0060462", source="Orphanet:1425", source="Orphanet:1425/e"} xref: NCIT:C124056 {source="MONDO:equivalentTo"} -xref: OMIM:251450 {source="DOID:0060462", source="ORDO:1425/e", source="MONDO:superClassOf", source="Orphanet:1425"} -xref: OMIM:300881 {source="ORDO:1425/btnt", source="MONDO:superClassOf", source="Orphanet:1425"} -xref: OMIM:615777 {source="DOID:0060462", source="ORDO:1425/btnt", source="MONDO:superClassOf", source="Orphanet:1425"} +xref: OMIM:251450 {source="DOID:0060462", source="MONDO:superClassOf", source="Orphanet:1425", source="Orphanet:1425/e"} +xref: OMIM:300881 {source="MONDO:superClassOf", source="Orphanet:1425", source="Orphanet:1425/btnt"} +xref: OMIM:615777 {source="DOID:0060462", source="MONDO:superClassOf", source="Orphanet:1425", source="Orphanet:1425/btnt"} xref: OMIMPS:251450 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1425 {source="DOID:0060462", source="MONDO:equivalentTo"} xref: SCTID:254099008 {source="DOID:0060462", source="MONDO:equivalentTo"} -xref: UMLS:C0432242 {source="DOID:0060462", source="MONDO:equivalentTo", source="ORDO:1425/e", source="NCIT:C124056", source="Orphanet:1425"} +xref: UMLS:C0432242 {source="DOID:0060462", source="MONDO:equivalentTo", source="NCIT:C124056", source="Orphanet:1425", source="Orphanet:1425/e"} xref: UMLS:CN239270 {source="MONDO:equivalentTo"} is_a: MONDO:0005516 {source="DOID:0060462", source="NCIT:C124056"} ! osteochondrodysplasia is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis @@ -306002,12 +305843,12 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1431"} synonym: "paroxysmal choreoathetosis" EXACT [Orphanet:1431] synonym: "paroxysmal dystonic choreoathetosis" EXACT [Orphanet:1431] -xref: ICD10CM:G24.8 {source="Orphanet:1431", source="ORDO:1431/attributed", source="ORDO:1431/ntbt"} +xref: ICD10CM:G24.8 {source="Orphanet:1431", source="Orphanet:1431/attributed", source="Orphanet:1431/ntbt"} xref: ICD9:333.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D002819 {source="Orphanet:1431", source="MONDO:relatedTo", source="ORDO:1431/e"} +xref: MESH:D002819 {source="Orphanet:1431", source="MONDO:relatedTo", source="Orphanet:1431/e"} xref: Orphanet:1431 {source="MONDO:equivalentTo"} xref: SCTID:49949003 {source="MONDO:equivalentTo"} -xref: UMLS:C0752210 {source="Orphanet:1431", source="ORDO:1431/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0752210 {source="Orphanet:1431", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1431/e"} is_a: MONDO:0016058 {source="Orphanet:1431"} ! paroxysmal dystonia [Term] @@ -306049,13 +305890,13 @@ synonym: "Ring chromosome 1 syndrome" RELATED [Orphanet:1437] synonym: "Ring chromosome type 1" EXACT [MONDORULE:1, Orphanet:1437] xref: GARD:0001320 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GTR:AN0102272 {source="UMLS:CN036412"} -xref: ICD10CM:Q93.2 {source="ORDO:1437/attributed", source="ORDO:1437/ntbt", source="Orphanet:1437"} -xref: MESH:C535361 {source="MONDO:equivalentTo", source="Orphanet:1437", source="ORDO:1437/e"} +xref: ICD10CM:Q93.2 {source="Orphanet:1437", source="Orphanet:1437/attributed", source="Orphanet:1437/ntbt"} +xref: MESH:C535361 {source="MONDO:equivalentTo", source="Orphanet:1437", source="Orphanet:1437/e"} xref: NCIT:C36474 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"} xref: Orphanet:1437 {source="MONDO:equivalentTo"} xref: SCTID:47017007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265395 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1437", source="ORDO:1437/e"} -xref: UMLS:C1519099 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1437", source="ORDO:1437/e"} +xref: UMLS:C0265395 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1437", source="Orphanet:1437/e"} +xref: UMLS:C1519099 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1437", source="Orphanet:1437/e"} xref: UMLS:CN036412 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human) @@ -306072,12 +305913,12 @@ synonym: "Ring 10" RELATED [GARD:0001322] synonym: "Ring chromosome 10 syndrome" RELATED [Orphanet:1438] synonym: "Ring chromosome type 10" EXACT [MONDORULE:2, Orphanet:1438] xref: GARD:0001322 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1438/attributed", source="ORDO:1438/ntbt", source="Orphanet:1438"} -xref: MESH:C538086 {source="MONDO:equivalentTo", source="ORDO:1438/e", source="Orphanet:1438"} +xref: ICD10CM:Q93.2 {source="Orphanet:1438/attributed", source="Orphanet:1438/ntbt", source="Orphanet:1438"} +xref: MESH:C538086 {source="Orphanet:1438/e", source="MONDO:equivalentTo", source="Orphanet:1438"} xref: Orphanet:1438 {source="MONDO:equivalentTo"} xref: SCTID:86997002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265438 {source="MONDO:equivalentTo", source="ORDO:1438/e", source="Orphanet:1438"} -xref: UMLS:C2931727 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1438/e", source="Orphanet:1438"} +xref: UMLS:C0265438 {source="Orphanet:1438/e", source="MONDO:equivalentTo", source="Orphanet:1438"} +xref: UMLS:C2931727 {source="Orphanet:1438/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1438"} xref: UMLS:CN037257 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1438"} ! syndromic intellectual disability intersection_of: MONDO:0700091 ! ring chromosome disorder @@ -306097,7 +305938,7 @@ synonym: "Ring 12" RELATED [GARD:0001325] synonym: "Ring chromosome 12 syndrome" RELATED [Orphanet:1439] synonym: "Ring chromosome type 12" EXACT [MONDORULE:2, Orphanet:1439] xref: GARD:0001325 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1439/attributed", source="ORDO:1439/ntbt", source="Orphanet:1439"} +xref: ICD10CM:Q93.2 {source="Orphanet:1439", source="Orphanet:1439/attributed", source="Orphanet:1439/ntbt"} xref: MESH:C538298 {source="MONDO:equivalentTo"} xref: Orphanet:1439 {source="MONDO:equivalentTo"} xref: UMLS:C0795843 {source="MONDO:equivalentTo", source="Orphanet:1439"} @@ -306117,10 +305958,10 @@ synonym: "Ring 17" RELATED [GARD:0004724] synonym: "Ring chromosome 17 syndrome" RELATED [Orphanet:1441] synonym: "Ring chromosome type 17" EXACT [MONDORULE:2, Orphanet:1441] xref: GARD:0004724 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:1441", source="ORDO:1441/attributed", source="ORDO:1441/ntbt"} -xref: MESH:C538046 {source="ORDO:1441/e", source="Orphanet:1441", source="MONDO:equivalentTo"} +xref: ICD10CM:Q93.2 {source="Orphanet:1441/attributed", source="Orphanet:1441/ntbt", source="Orphanet:1441"} +xref: MESH:C538046 {source="Orphanet:1441", source="MONDO:equivalentTo", source="Orphanet:1441/e"} xref: Orphanet:1441 {source="MONDO:equivalentTo"} -xref: UMLS:C2931714 {source="ORDO:1441/e", source="Orphanet:1441", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931714 {source="Orphanet:1441", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1441/e"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17 xsd:anyURI {source="GARD:0004724"} @@ -306138,12 +305979,12 @@ synonym: "Ring chromosome 18 syndrome" RELATED [Orphanet:1442] synonym: "Ring chromosome type 18" EXACT [MONDORULE:2, Orphanet:1442] xref: EFO:0001226 {source="MONDO:equivalentTo"} xref: GARD:0006077 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:1442", source="ORDO:1442/attributed", source="ORDO:1442/ntbt"} -xref: MESH:C538304 {source="Orphanet:1442", source="ORDO:1442/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q93.2 {source="Orphanet:1442", source="Orphanet:1442/attributed", source="Orphanet:1442/ntbt"} +xref: MESH:C538304 {source="Orphanet:1442", source="MONDO:equivalentTo", source="Orphanet:1442/e"} xref: Orphanet:1442 {source="MONDO:equivalentTo"} xref: SCTID:88154004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265475 {source="Orphanet:1442", source="ORDO:1442/e", source="MONDO:equivalentTo"} -xref: UMLS:C2931809 {source="Orphanet:1442", source="ORDO:1442/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265475 {source="Orphanet:1442", source="MONDO:equivalentTo", source="Orphanet:1442/e"} +xref: UMLS:C2931809 {source="Orphanet:1442", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1442/e"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18 xsd:anyURI {source="GARD:0006077"} @@ -306160,11 +306001,11 @@ synonym: "Ring 19" RELATED [GARD:0001333] synonym: "Ring chromosome 19 syndrome" RELATED [Orphanet:1443] synonym: "Ring chromosome type 19" EXACT [MONDORULE:2, Orphanet:1443] xref: GARD:0001333 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:1443", source="ORDO:1443/attributed", source="ORDO:1443/ntbt"} +xref: ICD10CM:Q93.2 {source="Orphanet:1443/attributed", source="Orphanet:1443/ntbt", source="Orphanet:1443"} xref: MESH:C538310 {source="MONDO:equivalentTo"} xref: Orphanet:1443 {source="MONDO:equivalentTo"} xref: SCTID:765484001 {source="MONDO:equivalentTo"} -xref: UMLS:C2931812 {source="ORDO:1443/e", source="Orphanet:1443", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931812 {source="Orphanet:1443", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1443/e"} xref: UMLS:CN036553 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr19 ! chromosome 19 (Human) @@ -306182,15 +306023,15 @@ synonym: "Ring 20" RELATED [GARD:0001334] synonym: "Ring chromosome 20 syndrome" RELATED [GARD:0001334] synonym: "Ring chromosome type 20" EXACT [MONDORULE:2, Orphanet:1444] xref: GARD:0001334 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:1444", source="ORDO:1444/attributed", source="ORDO:1444/ntbt"} +xref: ICD10CM:Q93.2 {source="Orphanet:1444/attributed", source="Orphanet:1444/ntbt", source="Orphanet:1444"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535369 {source="Orphanet:1444", source="ORDO:1444/e"} +xref: MESH:C535369 {source="Orphanet:1444", source="Orphanet:1444/e"} xref: MESH:C580424 {source="MONDO:equivalentTo"} xref: NCIT:C169001 {source="MONDO:equivalentTo"} xref: Orphanet:1444 {source="MONDO:equivalentTo"} xref: SCTID:23686004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265482 {source="Orphanet:1444", source="ORDO:1444/e", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2930886 {source="Orphanet:1444", source="ORDO:1444/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265482 {source="Orphanet:1444", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1444/e"} +xref: UMLS:C2930886 {source="Orphanet:1444", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1444/e"} is_a: MONDO:0005027 {source="MONDO:0015652-obsoleted"} ! epilepsy intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human) @@ -306209,12 +306050,12 @@ synonym: "Ring 21" RELATED [GARD:0006083] synonym: "Ring chromosome 21 syndrome" RELATED [Orphanet:1445] synonym: "Ring chromosome type 21" EXACT [MONDORULE:2, Orphanet:1445] xref: GARD:0006083 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1445/attributed", source="ORDO:1445/ntbt", source="Orphanet:1445"} -xref: MESH:C537109 {source="ORDO:1445/e", source="MONDO:equivalentTo", source="Orphanet:1445"} +xref: ICD10CM:Q93.2 {source="Orphanet:1445", source="Orphanet:1445/attributed", source="Orphanet:1445/ntbt"} +xref: MESH:C537109 {source="MONDO:equivalentTo", source="Orphanet:1445", source="Orphanet:1445/e"} xref: Orphanet:1445 {source="MONDO:equivalentTo"} xref: SCTID:31325007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265487 {source="ORDO:1445/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1445"} -xref: UMLS:C2931422 {source="ORDO:1445/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1445"} +xref: UMLS:C0265487 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1445", source="Orphanet:1445/e"} +xref: UMLS:C2931422 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1445", source="Orphanet:1445/e"} xref: UMLS:CN037252 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human) @@ -306233,12 +306074,12 @@ synonym: "Ring 22" RELATED [GARD:0001336] synonym: "Ring chromosome 22 syndrome" RELATED [Orphanet:1446] synonym: "Ring chromosome type 22" EXACT [MONDORULE:2, Orphanet:1446] xref: GARD:0001336 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1446/attributed", source="ORDO:1446/ntbt", source="Orphanet:1446"} -xref: MESH:C536795 {source="MONDO:equivalentTo", source="Orphanet:1446", source="ORDO:1446/e"} +xref: ICD10CM:Q93.2 {source="Orphanet:1446", source="Orphanet:1446/attributed", source="Orphanet:1446/ntbt"} +xref: MESH:C536795 {source="MONDO:equivalentTo", source="Orphanet:1446", source="Orphanet:1446/e"} xref: Orphanet:1446 {source="MONDO:equivalentTo"} xref: SCTID:13555004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265492 {source="Orphanet:1446", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1446/e"} -xref: UMLS:C2931325 {source="Orphanet:1446", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1446/e"} +xref: UMLS:C0265492 {source="Orphanet:1446", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1446/e"} +xref: UMLS:C2931325 {source="Orphanet:1446", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1446/e"} xref: UMLS:CN036599 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human) @@ -306259,13 +306100,13 @@ synonym: "Ring chromosome type 4" EXACT [MONDORULE:1, Orphanet:1447] synonym: "rose cluster 4" EXACT [NCIT:C121983] synonym: "syndrome r(4)" EXACT [Orphanet:1447] xref: GARD:0001339 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1447/attributed", source="ORDO:1447/ntbt", source="Orphanet:1447"} -xref: MESH:C537636 {source="MONDO:equivalentTo", source="ORDO:1447/e", source="Orphanet:1447"} +xref: ICD10CM:Q93.2 {source="Orphanet:1447", source="Orphanet:1447/attributed", source="Orphanet:1447/ntbt"} +xref: MESH:C537636 {source="MONDO:equivalentTo", source="Orphanet:1447", source="Orphanet:1447/e"} xref: NCIT:C121983 {source="MONDO:equivalentTo"} xref: Orphanet:1447 {source="MONDO:equivalentTo"} xref: SCTID:81678004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265407 {source="ORDO:1447/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1447"} -xref: UMLS:C2931556 {source="ORDO:1447/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1447"} +xref: UMLS:C0265407 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1447", source="Orphanet:1447/e"} +xref: UMLS:C2931556 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1447", source="Orphanet:1447/e"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4 xsd:anyURI {source="GARD:0001339"} @@ -306283,13 +306124,13 @@ synonym: "Ring chromosome 6 syndrome" RELATED [Orphanet:1448] synonym: "Ring chromosome type 6" EXACT [MONDORULE:1, Orphanet:1448] synonym: "rose cluster 6" EXACT [NCIT:C121985] xref: GARD:0006095 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1448/attributed", source="ORDO:1448/ntbt", source="Orphanet:1448"} -xref: MESH:C537763 {source="MONDO:equivalentTo", source="Orphanet:1448", source="ORDO:1448/e"} +xref: ICD10CM:Q93.2 {source="Orphanet:1448", source="Orphanet:1448/attributed", source="Orphanet:1448/ntbt"} +xref: MESH:C537763 {source="MONDO:equivalentTo", source="Orphanet:1448", source="Orphanet:1448/e"} xref: NCIT:C121985 {source="MONDO:equivalentTo"} xref: Orphanet:1448 {source="MONDO:equivalentTo"} xref: SCTID:765488003 {source="MONDO:equivalentTo"} -xref: UMLS:C0795814 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1448", source="ORDO:1448/e"} -xref: UMLS:C2931604 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1448", source="ORDO:1448/e"} +xref: UMLS:C0795814 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1448", source="Orphanet:1448/e"} +xref: UMLS:C2931604 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1448", source="Orphanet:1448/e"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6 xsd:anyURI {source="GARD:0006095"} @@ -306307,13 +306148,13 @@ synonym: "Ring chromosome 7 syndrome" RELATED [Orphanet:1449] synonym: "Ring chromosome type 7" EXACT [MONDORULE:1, Orphanet:1449] synonym: "rose cluster 7" EXACT [NCIT:C121986] xref: GARD:0001345 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:1449/attributed", source="ORDO:1449/ntbt", source="Orphanet:1449"} -xref: MESH:C537813 {source="MONDO:equivalentTo", source="ORDO:1449/e", source="Orphanet:1449"} +xref: ICD10CM:Q93.2 {source="Orphanet:1449/attributed", source="Orphanet:1449/ntbt", source="Orphanet:1449"} +xref: MESH:C537813 {source="Orphanet:1449/e", source="MONDO:equivalentTo", source="Orphanet:1449"} xref: NCIT:C121986 {source="MONDO:equivalentTo"} xref: Orphanet:1449 {source="MONDO:equivalentTo"} xref: SCTID:765489006 {source="MONDO:equivalentTo"} -xref: UMLS:C0795818 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1449/e", source="Orphanet:1449"} -xref: UMLS:C2931622 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1449/e", source="Orphanet:1449"} +xref: UMLS:C0795818 {source="Orphanet:1449/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1449"} +xref: UMLS:C2931622 {source="Orphanet:1449/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1449"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7 xsd:anyURI {source="GARD:0001345"} @@ -306340,12 +306181,12 @@ synonym: "supernumerary ring/marker 8" EXACT [Orphanet:1450] xref: GARD:0001347 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GTR:AN0101479 {source="UMLS:CN036129"} xref: GTR:AN0101480 {source="UMLS:CN036129"} -xref: ICD10CM:Q93.2 {source="Orphanet:1450", source="ORDO:1450/attributed", source="ORDO:1450/ntbt"} -xref: MESH:C537824 {source="Orphanet:1450", source="MONDO:equivalentTo", source="ORDO:1450/e"} +xref: ICD10CM:Q93.2 {source="Orphanet:1450", source="Orphanet:1450/attributed", source="Orphanet:1450/ntbt"} +xref: MESH:C537824 {source="Orphanet:1450", source="MONDO:equivalentTo", source="Orphanet:1450/e"} xref: NCIT:C121988 {source="MONDO:equivalentTo"} xref: Orphanet:1450 {source="MONDO:equivalentTo"} xref: SCTID:715983001 {source="MONDO:equivalentTo"} -xref: UMLS:C2931633 {source="Orphanet:1450", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1450/e"} +xref: UMLS:C2931633 {source="Orphanet:1450", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1450/e"} xref: UMLS:CN036129 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human) @@ -306363,10 +306204,10 @@ def: "Autosomal dominant form of aorta coarctation." [MONDO:patterns/autosomal_d subset: ordo_clinical_subtype {source="Orphanet:1455"} synonym: "aorta coarctation, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "autosomal dominant aorta coarctation" EXACT [MONDO:design_pattern] -xref: ICD10CM:Q25.1 {source="MONDO:subClassOf", source="Orphanet:1455", source="ORDO:1455/ntbt"} -xref: MESH:C531623 {source="Orphanet:1455", source="ORDO:1455/e"} +xref: ICD10CM:Q25.1 {source="MONDO:subClassOf", source="Orphanet:1455/ntbt", source="Orphanet:1455"} +xref: MESH:C531623 {source="Orphanet:1455", source="Orphanet:1455/e"} xref: Orphanet:1455 {source="MONDO:equivalentTo"} -xref: UMLS:C2930803 {source="Orphanet:1455", source="ORDO:1455/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2930803 {source="Orphanet:1455", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1455/e"} is_a: MONDO:0007345 {source="MONDO:Redundant", source="Orphanet:1455"} ! aorta coarctation intersection_of: MONDO:0007345 ! aorta coarctation intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -306381,7 +306222,7 @@ synonym: "mid-aortic dysplastic syndrome" EXACT [Orphanet:1456] synonym: "mid-aortic syndrome" EXACT [Orphanet:1456] synonym: "Midaortic syndrome" EXACT [Orphanet:1456] synonym: "middle aortic syndrome" EXACT [Orphanet:1456] -xref: ICD10CM:Q25.1 {source="MONDO:subClassOf", source="ORDO:1456/ntbt", source="Orphanet:1456"} +xref: ICD10CM:Q25.1 {source="MONDO:subClassOf", source="Orphanet:1456", source="Orphanet:1456/ntbt"} xref: Orphanet:1456 {source="MONDO:equivalentTo"} xref: SCTID:471268000 {source="MONDO:equivalentTo"} xref: UMLS:C3496579 {source="MONDO:equivalentTo"} @@ -306406,13 +306247,13 @@ synonym: "well-differentiated thyroid cancer" EXACT [NCIT:C7153] synonym: "well-differentiated thyroid carcinoma" EXACT [Orphanet:146] xref: DOID:0080525 {source="MONDO:equivalentTo"} xref: EFO:1002017 {source="MONDO:equivalentTo"} -xref: ICD10CM:C73 {source="ORDO:146/ntbt", source="Orphanet:146"} +xref: ICD10CM:C73 {source="Orphanet:146/ntbt", source="Orphanet:146"} xref: NCIT:C7153 {source="MONDO:equivalentTo"} -xref: OMIM:188550 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="ORDO:146/ntbt", source="Orphanet:146"} -xref: OMIM:607464 {source="MONDO:superClassOf", source="ORDO:146/btnt", source="Orphanet:146"} +xref: OMIM:188550 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:146/ntbt", source="Orphanet:146"} +xref: OMIM:607464 {source="MONDO:superClassOf", source="Orphanet:146/btnt", source="Orphanet:146"} xref: ONCOTREE:WDTC {source="MONDO:equivalentTo"} xref: Orphanet:146 {source="MONDO:equivalentTo"} -xref: UMLS:C0238463 {source="MONDO:superClassOf", source="ORDO:146/e", source="Orphanet:146"} +xref: UMLS:C0238463 {source="Orphanet:146/e", source="MONDO:superClassOf", source="Orphanet:146"} xref: UMLS:C1337013 {source="NCIT:C7153", source="MONDO:equivalentTo"} is_a: MONDO:0015075 {source="NCIT:C7153/inferred", source="Orphanet:146"} ! thyroid gland carcinoma property_value: confidence "1.198067632850242" xsd:double @@ -306429,16 +306270,16 @@ synonym: "isolated CoQ-cytochrome C reductase deficiency" EXACT [Orphanet:1460] synonym: "isolated mitochondrial respiratory chain complex III deficiency" EXACT [Orphanet:1460] synonym: "isolated ubiquinone-cytochrome C reductase deficiency" EXACT [Orphanet:1460] xref: DOID:0111139 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:1460/attributed", source="ORDO:1460/ntbt", source="Orphanet:1460"} -xref: OMIM:124000 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615157 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615158 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615159 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615160 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615453 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615824 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:615838 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} -xref: OMIM:616111 {source="MONDO:superClassOf", source="ORDO:1460/btnt", source="Orphanet:1460"} +xref: ICD10CM:G71.3 {source="Orphanet:1460/attributed", source="Orphanet:1460/ntbt", source="Orphanet:1460"} +xref: OMIM:124000 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615157 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615158 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615159 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615160 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615453 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615824 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:615838 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} +xref: OMIM:616111 {source="MONDO:superClassOf", source="Orphanet:1460/btnt", source="Orphanet:1460"} xref: Orphanet:1460 {source="MONDO:equivalentTo"} is_a: MONDO:0000066 ! mitochondrial complex deficiency is_a: MONDO:0004069 {source="DOID:0111139", source="Orphanet:1460/inferred"} ! inborn mitochondrial metabolism disorder @@ -306454,7 +306295,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:1461"} synonym: "criss-cross atrioventricular relationships" EXACT [Orphanet:1461] synonym: "superoinferior ventricles" EXACT [Orphanet:1461] synonym: "twisted atrioventricular connections" EXACT [Orphanet:1461] -xref: ICD10CM:Q24.8 {source="Orphanet:1461", source="ORDO:1461/ntbt"} +xref: ICD10CM:Q24.8 {source="Orphanet:1461", source="Orphanet:1461/ntbt"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D003420 {source="MONDO:equivalentTo"} xref: Orphanet:1461 {source="MONDO:equivalentTo"} @@ -306470,7 +306311,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1463"} synonym: "Cor triatriatum" EXACT [Orphanet:1463] xref: GARD:0006194 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q24.2 {source="ORDO:1463/e", source="Orphanet:1463"} +xref: ICD10CM:Q24.2 {source="Orphanet:1463", source="Orphanet:1463/e"} xref: ICD9:746.82 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C84651 {source="MONDO:equivalentTo"} xref: Orphanet:1463 {source="MONDO:equivalentTo"} @@ -306484,9 +306325,9 @@ name: univentricular heart def: "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." [Orphanet:1464] subset: ordo_morphological_anomaly {source="Orphanet:1464"} synonym: "Double inlet left ventricle" EXACT [Orphanet:1464] -xref: ICD10CM:Q20.4 {source="Orphanet:1464", source="ORDO:1464/e"} +xref: ICD10CM:Q20.4 {source="Orphanet:1464", source="Orphanet:1464/e"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10045545 {source="Orphanet:1464", source="ORDO:1464/e"} +xref: MedDRA:10045545 {source="Orphanet:1464", source="Orphanet:1464/e"} xref: Orphanet:1464 {source="MONDO:equivalentTo"} xref: SCTID:253283000 {source="MONDO:equivalentTo"} is_a: MONDO:0019820 {source="Orphanet:1464"} ! univentricular cardiopathy @@ -306504,20 +306345,20 @@ synonym: "intellectual disability with absent fifth fingernail and terminal phal synonym: "short stature-onychodysplasia." EXACT [DOID:1925] xref: DOID:1925 {source="MONDO:equivalentTo"} xref: GARD:0006124 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:1465", source="ORDO:1465/attributed", source="ORDO:1465/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:1465/attributed", source="Orphanet:1465/ntbt", source="Orphanet:1465"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536436 {source="ORDO:1465/e", source="Orphanet:1465", source="MONDO:equivalentTo", source="DOID:1925"} +xref: MESH:C536436 {source="Orphanet:1465", source="MONDO:equivalentTo", source="Orphanet:1465/e", source="DOID:1925"} xref: NCIT:C35321 {source="MONDO:equivalentTo", source="DOID:1925"} -xref: OMIM:135900 {source="MONDO:superClassOf", source="ORDO:1465/btnt"} -xref: OMIM:614607 {source="MONDO:superClassOf", source="ORDO:1465/btnt"} -xref: OMIM:614608 {source="MONDO:superClassOf", source="ORDO:1465/btnt"} -xref: OMIM:614609 {source="MONDO:superClassOf", source="ORDO:1465/btnt"} -xref: OMIM:615866 {source="MONDO:superClassOf", source="ORDO:1465/btnt"} -xref: OMIM:616938 {source="MONDO:superClassOf", source="ORDO:1465/btnt"} +xref: OMIM:135900 {source="Orphanet:1465/btnt", source="MONDO:superClassOf"} +xref: OMIM:614607 {source="Orphanet:1465/btnt", source="MONDO:superClassOf"} +xref: OMIM:614608 {source="Orphanet:1465/btnt", source="MONDO:superClassOf"} +xref: OMIM:614609 {source="Orphanet:1465/btnt", source="MONDO:superClassOf"} +xref: OMIM:615866 {source="Orphanet:1465/btnt", source="MONDO:superClassOf"} +xref: OMIM:616938 {source="Orphanet:1465/btnt", source="MONDO:superClassOf"} xref: OMIMPS:135900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:equivalentTo"} xref: SCTID:10007009 {source="MONDO:equivalentTo", source="DOID:1925"} -xref: UMLS:C0265338 {source="ORDO:1465/e", source="Orphanet:1465", source="MONDO:equivalentTo", source="NCIT:C35321", source="DOID:1925"} +xref: UMLS:C0265338 {source="Orphanet:1465", source="MONDO:equivalentTo", source="NCIT:C35321", source="Orphanet:1465/e", source="DOID:1925"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1465", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:1925", source="MONDO:Redundant", source="NCIT:C35321", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:1465"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -306538,10 +306379,10 @@ synonym: "Cogan's syndrome" EXACT [DOID:0060216, ICD10CM:H16.32] synonym: "diffuse interstitual keratitis" EXACT [DOID:0060216, ICD10CM:H16.32] xref: DOID:0060216 {source="MONDO:equivalentTo"} xref: GARD:0001421 {source="MONDO:equivalentTo"} -xref: ICD10CM:H16.3 {source="ORDO:1467/ntbt", source="Orphanet:1467"} +xref: ICD10CM:H16.3 {source="Orphanet:1467", source="Orphanet:1467/ntbt"} xref: ICD10CM:H16.32 {source="DOID:0060216"} -xref: MedDRA:10056667 {source="ORDO:1467/e", source="Orphanet:1467"} -xref: MESH:D055952 {source="ORDO:1467/e", source="MONDO:equivalentTo", source="Orphanet:1467", source="DOID:0060216"} +xref: MedDRA:10056667 {source="Orphanet:1467", source="Orphanet:1467/e"} +xref: MESH:D055952 {source="MONDO:equivalentTo", source="Orphanet:1467", source="DOID:0060216", source="Orphanet:1467/e"} xref: Orphanet:1467 {source="MONDO:equivalentTo", source="DOID:0060216"} xref: SCTID:193785001 {source="DOID:0060216"} xref: SCTID:231906002 {source="DOID:0060216"} @@ -306567,12 +306408,12 @@ xref: DOID:857 {source="MONDO:equivalentTo"} xref: GARD:0003824 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:D81.81 {source="DOID:857"} xref: ICD10CM:D81.819 {source="DOID:857", source="MONDO:equivalentTo"} -xref: ICD10CM:E53.8 {source="Orphanet:148", source="ORDO:148/attributed", source="ORDO:148/ntbt"} -xref: MedDRA:10028176 {source="Orphanet:148", source="ORDO:148/e"} -xref: MESH:D009100 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="ORDO:148/e"} +xref: ICD10CM:E53.8 {source="Orphanet:148", source="Orphanet:148/attributed", source="Orphanet:148/ntbt"} +xref: MedDRA:10028176 {source="Orphanet:148", source="Orphanet:148/e"} +xref: MESH:D009100 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="Orphanet:148/e"} xref: Orphanet:148 {source="MONDO:equivalentTo"} xref: SCTID:62151000119109 {source="DOID:857"} -xref: UMLS:C0026755 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="ORDO:148/e"} +xref: UMLS:C0026755 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="Orphanet:148/e"} is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005093 ! skin disorder is_a: MONDO:0019214 {source="DOID:857", source="MESH:D009100"} ! inborn carbohydrate metabolic disorder @@ -306591,12 +306432,12 @@ synonym: "conjunctivitis gonococcal" EXACT [NCIT:C116816] synonym: "gonococcal ophthalmia neonatorum" EXACT [NCIT:C116816] xref: GARD:0002546 {source="MONDO:equivalentTo"} xref: ICD10CM:A54.31 {source="MONDO:equivalentTo"} -xref: ICD10EXP:A54.3+ {source="Orphanet:1482", source="ORDO:1482/e"} -xref: ICD10EXP:H13.1* {source="Orphanet:1482", source="ORDO:1482/e"} +xref: ICD10EXP:A54.3+ {source="Orphanet:1482/e", source="Orphanet:1482"} +xref: ICD10EXP:H13.1* {source="Orphanet:1482/e", source="Orphanet:1482"} xref: NCIT:C116816 {source="MONDO:equivalentTo"} xref: Orphanet:1482 {source="MONDO:equivalentTo"} xref: SCTID:231858009 {source="MONDO:equivalentTo"} -xref: UMLS:C0339166 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1482", source="ORDO:1482/e"} +xref: UMLS:C0339166 {source="Orphanet:1482/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1482"} is_a: MONDO:0003799 {source="MONDO:Redundant", source="NCIT:C116816/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! conjunctivitis is_a: MONDO:0004277 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder @@ -306639,7 +306480,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1495"} synonym: "Da Silva syndrome" EXACT [Orphanet:1495] synonym: "intellectual disability - hypoplastic corpus callosum - preauricular tag" RELATED [GARD:0012487] xref: GARD:0012487 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1495", source="ORDO:1495/attributed", source="ORDO:1495/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1495", source="Orphanet:1495/attributed", source="Orphanet:1495/ntbt"} xref: Orphanet:1495 {source="MONDO:equivalentTo"} xref: SCTID:722455002 {source="MONDO:equivalentTo"} xref: UMLS:CN199578 {source="MONDO:equivalentTo"} @@ -306682,10 +306523,10 @@ synonym: "primary malignant neoplasm of anterior wall of nasopharynx" BROAD [DOI synonym: "squamous cell carcinoma of the nasopharynx" EXACT [Orphanet:150] xref: DOID:9261 {source="MONDO:equivalentTo"} xref: ICD10CM:C11 {source="DOID:9261"} -xref: ICD10CM:C11.0 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"} -xref: ICD10CM:C11.1 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"} -xref: ICD10CM:C11.2 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"} -xref: ICD10CM:C11.3 {source="DOID:9261", source="ORDO:150/btnt", source="Orphanet:150"} +xref: ICD10CM:C11.0 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"} +xref: ICD10CM:C11.1 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"} +xref: ICD10CM:C11.2 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"} +xref: ICD10CM:C11.3 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"} xref: ICD10CM:C11.9 {source="DOID:9261"} xref: ICD9:147 {source="DOID:9261"} xref: ICD9:147.0 {source="DOID:9261"} @@ -306693,15 +306534,15 @@ xref: ICD9:147.1 {source="DOID:9261"} xref: ICD9:147.2 {source="DOID:9261", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:147.3 {source="DOID:9261"} xref: ICD9:147.9 {source="MONDO:subClassOf", source="DOID:9261"} -xref: MedDRA:10028793 {source="ORDO:150/e", source="Orphanet:150"} -xref: MESH:C538339 {source="MONDO:equivalentObsolete", source="ORDO:150/e", source="Orphanet:150"} +xref: MedDRA:10028793 {source="Orphanet:150", source="Orphanet:150/e"} +xref: MESH:C538339 {source="MONDO:equivalentObsolete", source="Orphanet:150", source="Orphanet:150/e"} xref: MESH:D00007727 {xref="https://github.com/monarch-initiative/mondo/issues/2068", source="MONDO:equivalentTo"} xref: MESH:D009303 {source="MONDO:subClassOf", source="DOID:9261"} xref: NCIT:C3871 {source="MONDO:equivalentTo"} xref: NCIT:C9321 {source="MONDO:subClassOf", source="DOID:9261"} -xref: OMIM:161550 {source="DOID:9261", source="MONDO:superClassOf", source="ORDO:150/btnt", source="Orphanet:150"} -xref: OMIM:607107 {source="ORDO:150/e", source="DOID:9261", source="MONDO:superClassOf", source="Orphanet:150"} -xref: OMIM:617075 {source="MONDO:superClassOf", source="ORDO:150/btnt", source="Orphanet:150"} +xref: OMIM:161550 {source="DOID:9261", source="MONDO:superClassOf", source="Orphanet:150", source="Orphanet:150/btnt"} +xref: OMIM:607107 {source="DOID:9261", source="MONDO:superClassOf", source="Orphanet:150", source="Orphanet:150/e"} +xref: OMIM:617075 {source="MONDO:superClassOf", source="Orphanet:150", source="Orphanet:150/btnt"} xref: ONCOTREE:NPC {source="MONDO:equivalentTo"} xref: Orphanet:150 {source="DOID:9261", source="MONDO:equivalentTo"} xref: SCTID:187692001 {source="MONDO:subClassOf", source="DOID:9261"} @@ -306724,7 +306565,7 @@ xref: UMLS:C0153394 {source="DOID:9261", source="MONDO:equivalentTo"} xref: UMLS:C0153395 {source="DOID:9261", source="MONDO:equivalentTo"} xref: UMLS:C0153396 {source="DOID:9261", source="MONDO:equivalentTo"} xref: UMLS:C0238301 {source="MONDO:subClassOf", source="DOID:9261", source="Orphanet:150"} -xref: UMLS:C2931822 {source="ORDO:150/e", source="MONDO:equivalentTo", source="NCIT:C3871", source="Orphanet:150"} +xref: UMLS:C2931822 {source="MONDO:equivalentTo", source="NCIT:C3871", source="Orphanet:150", source="Orphanet:150/e"} xref: UMLS:C3647449 {source="MONDO:equivalentTo"} xref: UMLS:C3665551 {source="MONDO:equivalentTo"} xref: UMLS:CN199582 {source="MONDO:equivalentTo"} @@ -306757,13 +306598,13 @@ name: short rib-polydactyly syndrome def: "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." [Orphanet:1505] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1505"} -xref: ICD10CM:Q77.2 {source="ORDO:1505/attributed", source="ORDO:1505/ntbt", source="Orphanet:1505"} +xref: ICD10CM:Q77.2 {source="Orphanet:1505", source="Orphanet:1505/attributed", source="Orphanet:1505/ntbt"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D012779 {source="MONDO:equivalentTo", source="Orphanet:1505", source="ORDO:1505/e"} +xref: MESH:D012779 {source="Orphanet:1505/e", source="MONDO:equivalentTo", source="Orphanet:1505"} xref: NCIT:C85065 {source="MONDO:equivalentTo"} xref: Orphanet:1505 {source="MONDO:equivalentTo"} xref: SCTID:205484001 {source="MONDO:equivalentTo"} -xref: UMLS:C0036996 {source="MONDO:equivalentTo", source="NCIT:C85065", source="Orphanet:1505", source="ORDO:1505/e"} +xref: UMLS:C0036996 {source="Orphanet:1505/e", source="MONDO:equivalentTo", source="NCIT:C85065", source="Orphanet:1505"} is_a: MONDO:0002254 {source="NCIT:C85065"} ! syndromic disease is_a: MONDO:0005087 {source="MONDO:Entailed"} ! respiratory system disorder is_a: MONDO:0015929 {source="Orphanet:1505"} ! thoracic malformation @@ -306775,10 +306616,10 @@ id: MONDO:0015462 name: thin ribs-tubular bones-dysmorphism syndrome subset: ordo_malformation_syndrome {source="Orphanet:1506"} synonym: "Sharma-Kapoor-Ramji syndrome" EXACT [Orphanet:1506] -xref: ICD10CM:Q87.5 {source="ORDO:1506/attributed", source="ORDO:1506/ntbt", source="Orphanet:1506"} +xref: ICD10CM:Q87.5 {source="Orphanet:1506/attributed", source="Orphanet:1506/ntbt", source="Orphanet:1506"} xref: MESH:C537595 {source="MONDO:equivalentTo"} xref: Orphanet:1506 {source="MONDO:equivalentTo"} -xref: UMLS:C2931543 {source="MONDO:equivalentTo", source="ORDO:1506/e", source="Orphanet:1506"} +xref: UMLS:C2931543 {source="Orphanet:1506/e", source="MONDO:equivalentTo", source="Orphanet:1506"} is_a: MONDO:0019699 {source="Orphanet:1506"} ! slender bone dysplasia [Term] @@ -306798,9 +306639,9 @@ synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [GA synonym: "Scott craniodigital syndrome with mental retardation" RELATED DEPRECATED [GARD:0004776, MESH:C537528] synonym: "Scott-Bryant-Graham syndrome" EXACT [Orphanet:1514] xref: GARD:0004776 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1514/attributed", source="ORDO:1514/ntbt", source="Orphanet:1514"} +xref: ICD10CM:Q87.0 {source="Orphanet:1514", source="Orphanet:1514/attributed", source="Orphanet:1514/ntbt"} xref: MESH:C537528 {source="MONDO:equivalentTo"} -xref: OMIM:312860 {source="GARD:0004776", source="MONDO:equivalentObsolete", source="Orphanet:1514", source="ORDO:1514/e"} +xref: OMIM:312860 {source="GARD:0004776", source="MONDO:equivalentObsolete", source="Orphanet:1514", source="Orphanet:1514/e"} xref: Orphanet:1514 {source="GARD:0004776", source="MONDO:equivalentTo"} xref: SCTID:763665007 {source="MONDO:equivalentTo"} xref: UMLS:C1839311 {source="GARD:0004776", source="MONDO:equivalentTo", source="Orphanet:1514"} @@ -306815,7 +306656,7 @@ name: craniofrontonasal dysplasia-Poland anomaly syndrome def: "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." [Orphanet:1521] subset: ordo_malformation_syndrome {source="Orphanet:1521"} synonym: "Webster-Deming syndrome" EXACT [Orphanet:1521] -xref: ICD10CM:Q87.8 {source="Orphanet:1521", source="ORDO:1521/attributed", source="ORDO:1521/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1521/attributed", source="Orphanet:1521/ntbt", source="Orphanet:1521"} xref: Orphanet:1521 {source="MONDO:equivalentTo"} xref: SCTID:720757001 {source="MONDO:equivalentTo"} xref: UMLS:CN199598 {source="MONDO:equivalentTo"} @@ -306828,12 +306669,12 @@ name: craniometaphyseal dysplasia def: "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." [Orphanet:1522] subset: ordo_malformation_syndrome {source="Orphanet:1522"} xref: DOID:0080033 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:1522/attributed", source="ORDO:1522/ntbt", source="Orphanet:1522"} +xref: ICD10CM:Q78.8 {source="Orphanet:1522", source="Orphanet:1522/attributed", source="Orphanet:1522/ntbt"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:122860 {source="DOID:0080033", source="MONDO:superClassOf"} -xref: OMIM:123000 {source="DOID:0080033", source="MONDO:superClassOf", source="ORDO:1522/btnt", source="Orphanet:1522"} +xref: OMIM:123000 {source="DOID:0080033", source="MONDO:superClassOf", source="Orphanet:1522", source="Orphanet:1522/btnt"} xref: OMIM:218300 {source="DOID:0080033", source="MONDO:superClassOf"} -xref: OMIM:218400 {source="DOID:0080033", source="MONDO:superClassOf", source="ORDO:1522/btnt", source="Orphanet:1522"} +xref: OMIM:218400 {source="DOID:0080033", source="MONDO:superClassOf", source="Orphanet:1522", source="Orphanet:1522/btnt"} xref: OMIM:614099 {source="DOID:0080033", source="MONDO:superClassOf"} xref: OMIM:614378 {source="DOID:0080033", source="MONDO:superClassOf"} xref: OMIMPS:123000 {source="MONDO:equivalentTo"} @@ -306857,13 +306698,13 @@ synonym: "Currarino disease" EXACT [Orphanet:1525] synonym: "Currarino idiopathic osteoarthropathy" EXACT [Orphanet:1525] synonym: "Reginato-Schiapachasse syndrome" EXACT [Orphanet:1525] xref: GARD:0001564 {source="MONDO:equivalentTo"} -xref: ICD10CM:M89.4 {source="ORDO:1525/attributed", source="ORDO:1525/ntbt", source="Orphanet:1525"} -xref: OMIM:259100 {source="MONDO:subClassOf", source="ORDO:1525/ntbt", source="Orphanet:1525", source="MONDO:directSiblingOf"} +xref: ICD10CM:M89.4 {source="Orphanet:1525", source="Orphanet:1525/attributed", source="Orphanet:1525/ntbt"} +xref: OMIM:259100 {source="MONDO:subClassOf", source="Orphanet:1525", source="MONDO:directSiblingOf", source="Orphanet:1525/ntbt"} xref: Orphanet:1525 {source="MONDO:equivalentTo"} xref: SCTID:720753002 {source="MONDO:equivalentTo"} xref: UMLS:C1531773 {source="MONDO:subClassOf", source="Orphanet:1525"} xref: UMLS:C2678439 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1525"} -xref: UMLS:C2930922 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1525", source="ORDO:1525/e"} +xref: UMLS:C2930922 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1525", source="Orphanet:1525/e"} xref: UMLS:CN199601 {source="MONDO:equivalentTo"} is_a: MONDO:0016620 {source="Orphanet:1525"} ! primary hypertrophic osteoarthropathy property_value: confidence "0.12499999999999978" xsd:double @@ -306875,8 +306716,8 @@ name: craniosynostosis, Philadelphia type def: "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A." [Orphanet:1527] subset: ordo_malformation_syndrome {source="Orphanet:1527"} xref: GARD:0001601 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1527/attributed", source="ORDO:1527/ntbt", source="Orphanet:1527"} -xref: OMIM:185900 {source="MONDO:subClassOf", source="ORDO:1527/ntbt", source="MONDO:relatedTo", source="Orphanet:1527"} +xref: ICD10CM:Q87.0 {source="Orphanet:1527", source="Orphanet:1527/attributed", source="Orphanet:1527/ntbt"} +xref: OMIM:185900 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:1527", source="Orphanet:1527/ntbt"} xref: Orphanet:1527 {source="MONDO:equivalentTo"} xref: SCTID:720818003 {source="MONDO:equivalentTo"} xref: UMLS:C1832590 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1527"} @@ -306887,7 +306728,7 @@ property_value: confidence "1.0" xsd:double id: MONDO:0015468 name: craniosynostosis-cataract syndrome subset: ordo_malformation_syndrome {source="Orphanet:1530"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:1530", source="ORDO:1530/attributed", source="ORDO:1530/ntbt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:1530", source="Orphanet:1530/attributed", source="Orphanet:1530/ntbt"} xref: Orphanet:1530 {source="MONDO:equivalentTo"} xref: UMLS:CN226684 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:1530"} ! syndromic craniosynostosis @@ -306903,10 +306744,10 @@ synonym: "CSO" RELATED ABBREVIATION [GARD:0006209] synonym: "premature closure of cranial sutures" EXACT [DOID:2340] xref: DOID:2340 {source="MONDO:equivalentTo"} xref: GARD:0006209 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.0 {source="DOID:2340", source="ORDO:1531/e", source="ORDO:1531/specific", source="Orphanet:1531", source="MONDO:equivalentTo"} -xref: MedDRA:10048907 {source="ORDO:1531/e", source="Orphanet:1531"} -xref: MedDRA:10049889 {source="ORDO:1531/e", source="Orphanet:1531"} -xref: MESH:D003398 {source="DOID:2340", source="ORDO:1531/e", source="Orphanet:1531", source="MONDO:equivalentTo"} +xref: ICD10CM:Q75.0 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/specific", source="Orphanet:1531/e"} +xref: MedDRA:10048907 {source="Orphanet:1531", source="Orphanet:1531/e"} +xref: MedDRA:10049889 {source="Orphanet:1531", source="Orphanet:1531/e"} +xref: MESH:D003398 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/e"} xref: NCIT:C84655 {source="DOID:2340", source="MONDO:equivalentTo"} xref: OMIM:123100 {source="DOID:2340", source="MONDO:superClassOf"} xref: OMIM:182212 {source="DOID:2340", source="MONDO:superClassOf"} @@ -306920,7 +306761,7 @@ xref: Orphanet:1531 {source="DOID:2340", source="MONDO:equivalentTo"} xref: SCTID:205411004 {source="DOID:2340"} xref: SCTID:205414007 {source="DOID:2340"} xref: SCTID:57219006 {source="DOID:2340", source="MONDO:superClassOf"} -xref: UMLS:C0010278 {source="DOID:2340", source="NCIT:C84655", source="ORDO:1531/e", source="Orphanet:1531", source="MONDO:equivalentTo"} +xref: UMLS:C0010278 {source="DOID:2340", source="NCIT:C84655", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/e"} is_a: MONDO:0001411 {source="DOID:2340", source="MESH:D003398"} ! synostosis is_a: MONDO:0018454 {source="Orphanet:1531"} ! dysostosis of genetic origin is_a: MONDO:0020018 {source="Orphanet:1531"} ! cranial malformation @@ -306933,46 +306774,46 @@ def: "Familial isolated dilated cardiomyopathy is a rare, genetically heterogene subset: ordo_disease {source="Orphanet:154"} synonym: "familial isolated dilated cardiomyopathy" EXACT CLINGEN_PREFERRED [] synonym: "familial or idiopathic dilated cardiomyopathy" EXACT [Orphanet:154] -xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="ORDO:154/attributed", source="ORDO:154/ntbt", source="Orphanet:154"} -xref: OMIM:302045 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:600884 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:601154 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:601493 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:601494 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:604145 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:604288 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:604765 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:605582 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:606685 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:607482 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:608569 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:609909 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:609915 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:611407 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:611615 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:611878 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:611879 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:611880 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:612158 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:612877 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613122 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613172 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613252 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613286 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613424 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613426 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613642 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613694 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613697 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613740 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:613881 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:614672 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:615184 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:615235 {source="ORDO:154/btnt", source="MONDO:superClassOf"} -xref: OMIM:615248 {source="MONDO:relatedTo", source="ORDO:154/btnt"} -xref: OMIM:615373 {source="ORDO:154/ntbt", source="MONDO:superClassOf"} -xref: OMIM:615396 {source="ORDO:154/ntbt", source="MONDO:superClassOf"} -xref: OMIM:615916 {source="ORDO:154/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="Orphanet:154/attributed", source="Orphanet:154/ntbt", source="Orphanet:154"} +xref: OMIM:302045 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:600884 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:601154 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:601493 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:601494 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:604145 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:604288 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:604765 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:605582 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:606685 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:607482 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:608569 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:609909 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:609915 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:611407 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:611615 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:611878 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:611879 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:611880 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:612158 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:612877 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613122 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613172 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613252 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613286 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613424 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613426 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613642 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613694 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613697 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613740 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:613881 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:614672 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:615184 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:615235 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} +xref: OMIM:615248 {source="MONDO:relatedTo", source="Orphanet:154/btnt"} +xref: OMIM:615373 {source="MONDO:superClassOf", source="Orphanet:154/ntbt"} +xref: OMIM:615396 {source="MONDO:superClassOf", source="Orphanet:154/ntbt"} +xref: OMIM:615916 {source="MONDO:superClassOf", source="Orphanet:154/btnt"} xref: Orphanet:154 {source="MONDO:equivalentTo"} xref: UMLS:C0340427 {source="MONDO:subClassOf", source="Orphanet:154"} xref: UMLS:CN199609 {source="MONDO:equivalentTo"} @@ -306984,7 +306825,7 @@ id: MONDO:0015471 name: benign focal seizures of adolescence subset: ordo_disease {source="Orphanet:1544"} synonym: "adolescent benign focal crisis" EXACT [Orphanet:1544] -xref: ICD10CM:G40.8 {source="ORDO:1544/ntbt", source="Orphanet:1544"} +xref: ICD10CM:G40.8 {source="Orphanet:1544", source="Orphanet:1544/ntbt"} xref: Orphanet:1544 {source="MONDO:equivalentTo"} xref: SCTID:715425000 {source="MONDO:equivalentTo"} xref: UMLS:C4275141 {source="MONDO:equivalentTo"} @@ -307004,7 +306845,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1548"} synonym: "cryptorchidism arachnodactyly intellectual deficit" RELATED [GARD:0000860] synonym: "Van Benthem-Driessen-Hanveld syndrome" EXACT [Orphanet:1548] xref: GARD:0000860 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1548/attributed", source="ORDO:1548/ntbt", source="Orphanet:1548"} +xref: ICD10CM:Q87.8 {source="Orphanet:1548/attributed", source="Orphanet:1548/ntbt", source="Orphanet:1548"} xref: Orphanet:1548 {source="MONDO:equivalentTo"} xref: UMLS:CN199616 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1548", source="indirect"} ! syndromic intellectual disability @@ -307027,17 +306868,17 @@ synonym: "infection by Cryptosporidium" EXACT [DOID:1733] synonym: "intestinal cryptosporidiosis" EXACT [DOID:1733, ICD9CM:007.4] xref: DOID:1733 {source="MONDO:equivalentTo"} xref: GARD:0006219 {source="MONDO:equivalentTo"} -xref: ICD10CM:A07.2 {source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="ORDO:1549/e"} +xref: ICD10CM:A07.2 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"} xref: ICD9:007.4 {source="DOID:1733"} -xref: MedDRA:10011502 {source="Orphanet:1549", source="ORDO:1549/e"} -xref: MESH:D003457 {source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="ORDO:1549/e"} +xref: MedDRA:10011502 {source="Orphanet:1549/e", source="Orphanet:1549"} +xref: MESH:D003457 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"} xref: NCIT:C128408 {source="MONDO:equivalentTo"} xref: Orphanet:1549 {source="MONDO:equivalentTo"} xref: SCTID:186126003 {source="DOID:1733"} xref: SCTID:240370009 {source="DOID:1733"} xref: SCTID:58777003 {source="DOID:1733"} xref: SCTID:66160001 {source="MONDO:equivalentTo"} -xref: UMLS:C0010418 {source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="ORDO:1549/e", source="NCIT:C128408"} +xref: UMLS:C0010418 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549", source="NCIT:C128408"} xref: UMLS:C0520796 {source="MONDO:equivalentTo"} is_a: MONDO:0002428 {source="DOID:1733/inferred", source="MESH:D003457/inferred", source="NCIT:C128408", source="indirect"} ! protozoa infectious disease is_a: MONDO:0005135 {source="MONDO:Entailed", source="Orphanet:1549"} ! parasitic infectious disease @@ -307068,7 +306909,7 @@ id: MONDO:0015476 name: cysts and fistulae of the face and oral cavity subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:155835"} -xref: ICD10CM:Q18.0 {source="ORDO:155835/ntbt", source="Orphanet:155835"} +xref: ICD10CM:Q18.0 {source="Orphanet:155835", source="Orphanet:155835/ntbt"} xref: Orphanet:155835 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease @@ -307078,7 +306919,7 @@ id: MONDO:0015477 name: pinnae fistula or cyst def: "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." [Orphanet:155838] subset: ordo_morphological_anomaly {source="Orphanet:155838"} -xref: ICD10CM:Q18.8 {source="ORDO:155838/ntbt", source="Orphanet:155838"} +xref: ICD10CM:Q18.8 {source="Orphanet:155838/ntbt", source="Orphanet:155838"} xref: Orphanet:155838 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:155838"} ! cysts and fistulae of the face and oral cavity @@ -307088,7 +306929,7 @@ name: paramedian facial cleft subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:155867"} synonym: "Tessier number 1-1 and 2-12 facial cleft" EXACT [Orphanet:155867] -xref: ICD10CM:Q18.8 {source="ORDO:155867/ntbt", source="Orphanet:155867"} +xref: ICD10CM:Q18.8 {source="Orphanet:155867/ntbt", source="Orphanet:155867"} xref: Orphanet:155867 {source="MONDO:equivalentTo"} is_a: MONDO:0015411 {source="Orphanet:155867"} ! facial cleft @@ -307096,7 +306937,7 @@ is_a: MONDO:0015411 {source="Orphanet:155867"} ! facial cleft id: MONDO:0015479 name: submucosal cleft palate subset: ordo_morphological_anomaly {source="Orphanet:155878"} -xref: ICD10CM:Q35.9 {source="ORDO:155878/ntbt", source="Orphanet:155878"} +xref: ICD10CM:Q35.9 {source="Orphanet:155878/ntbt", source="Orphanet:155878"} xref: Orphanet:155878 {source="MONDO:equivalentTo"} is_a: MONDO:0016064 {source="Orphanet:155878"} ! cleft palate @@ -307107,7 +306948,7 @@ def: "Coloboma of superior eyelid is a rare developmental defect during embryoge comment: Editor note: TODO axioms subset: ordo_morphological_anomaly {source="Orphanet:155884"} synonym: "superior palpebral coloboma" EXACT [Orphanet:155884] -xref: ICD10CM:Q10.3 {source="Orphanet:155884", source="ORDO:155884/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:155884/ntbt", source="Orphanet:155884"} xref: Orphanet:155884 {source="MONDO:equivalentTo"} xref: SCTID:763132003 {source="MONDO:equivalentTo"} is_a: MONDO:0015415 {source="Orphanet:155884"} ! oblique facial cleft @@ -307119,7 +306960,7 @@ def: "Coloboma of inferior eyelid is a rare developmental defect during embryoge comment: Editor note: TODO axioms subset: ordo_morphological_anomaly {source="Orphanet:155889"} synonym: "Inferior palpebral coloboma" EXACT [Orphanet:155889] -xref: ICD10CM:Q10.3 {source="ORDO:155889/ntbt", source="Orphanet:155889"} +xref: ICD10CM:Q10.3 {source="Orphanet:155889/ntbt", source="Orphanet:155889"} xref: Orphanet:155889 {source="MONDO:equivalentTo"} xref: SCTID:763133008 {source="MONDO:equivalentTo"} is_a: MONDO:0015415 {source="Orphanet:155889"} ! oblique facial cleft @@ -307142,11 +306983,11 @@ def: "A hereditary disorder occurring in two forms: the complete form (Francesch subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:155899"} synonym: "bilateral and symmetric oto-mandibular dysplasia" EXACT [Orphanet:155899] -xref: ICD10CM:Q75.4 {source="Orphanet:155899", source="ORDO:155899/e", source="ORDO:155899/specific"} -xref: MedDRA:10051456 {source="Orphanet:155899", source="ORDO:155899/e"} -xref: MESH:D008342 {source="MONDO:equivalentTo", source="Orphanet:155899", source="ORDO:155899/e"} +xref: ICD10CM:Q75.4 {source="Orphanet:155899/specific", source="Orphanet:155899", source="Orphanet:155899/e"} +xref: MedDRA:10051456 {source="Orphanet:155899", source="Orphanet:155899/e"} +xref: MESH:D008342 {source="MONDO:equivalentTo", source="Orphanet:155899", source="Orphanet:155899/e"} xref: Orphanet:155899 {source="MONDO:equivalentTo"} -xref: UMLS:C0242387 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:155899", source="ORDO:155899/e"} +xref: UMLS:C0242387 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:155899", source="Orphanet:155899/e"} is_a: MONDO:0015482 {source="Orphanet:155899"} ! otomandibular dysplasia [Term] @@ -307165,19 +307006,19 @@ xref: DOID:10079 {source="MONDO:equivalentTo", source="EFO:0007231"} xref: EFO:0007231 {source="MONDO:equivalentTo"} xref: GARD:0008194 {source="MONDO:equivalentTo"} xref: ICD10CM:B69 {source="MONDO:equivalentTo", source="DOID:10079"} -xref: ICD10CM:B69.0 {source="Orphanet:1560", source="ORDO:1560/btnt"} -xref: ICD10CM:B69.1 {source="Orphanet:1560", source="ORDO:1560/btnt"} -xref: ICD10CM:B69.8 {source="Orphanet:1560", source="ORDO:1560/btnt"} -xref: ICD10CM:B69.9 {source="Orphanet:1560", source="ORDO:1560/btnt", source="DOID:10079"} +xref: ICD10CM:B69.0 {source="Orphanet:1560", source="Orphanet:1560/btnt"} +xref: ICD10CM:B69.1 {source="Orphanet:1560", source="Orphanet:1560/btnt"} +xref: ICD10CM:B69.8 {source="Orphanet:1560", source="Orphanet:1560/btnt"} +xref: ICD10CM:B69.9 {source="Orphanet:1560", source="Orphanet:1560/btnt", source="DOID:10079"} xref: ICD9:123.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:10079"} -xref: MedDRA:10011775 {source="Orphanet:1560", source="ORDO:1560/e"} -xref: MESH:D003551 {source="Orphanet:1560", source="MONDO:equivalentTo", source="EFO:0007231", source="ORDO:1560/e", source="DOID:10079"} +xref: MedDRA:10011775 {source="Orphanet:1560", source="Orphanet:1560/e"} +xref: MESH:D003551 {source="Orphanet:1560", source="MONDO:equivalentTo", source="Orphanet:1560/e", source="EFO:0007231", source="DOID:10079"} xref: NCIT:C34520 {source="MONDO:equivalentTo", source="DOID:10079"} xref: Orphanet:1560 {source="MONDO:equivalentTo"} xref: SCTID:105684008 {source="DOID:10079"} xref: SCTID:187527007 {source="DOID:10079"} xref: SCTID:59051007 {source="MONDO:equivalentTo", source="DOID:10079"} -xref: UMLS:C0010678 {source="Orphanet:1560", source="MONDO:equivalentTo", source="NCIT:C34520", source="ORDO:1560/e", source="DOID:10079"} +xref: UMLS:C0010678 {source="Orphanet:1560", source="MONDO:equivalentTo", source="Orphanet:1560/e", source="NCIT:C34520", source="DOID:10079"} xref: UMLS:C0338437 {source="MONDO:equivalentTo"} is_a: MONDO:0000367 {source="DOID:10079", source="MESH:D003551"} ! taeniasis is_a: MONDO:0005135 {source="DOID:10079/inferred", source="EFO:0007231", source="MESH:D003551/inferred", source="MONDO:Redundant", source="NCIT:C34520", source="Orphanet:1560", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease @@ -307208,12 +307049,12 @@ synonym: "noninflammatory corneal thining" RELATED [GARD:0006824] xref: DOID:10126 {source="MONDO:equivalentTo"} xref: GARD:0006824 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0000563 {source="MONDO:otherHierarchy"} -xref: ICD10CM:H18.6 {source="DOID:10126", source="ORDO:156071/e", source="Orphanet:156071", source="ORDO:156071/specific"} +xref: ICD10CM:H18.6 {source="DOID:10126", source="Orphanet:156071/e", source="Orphanet:156071/specific", source="Orphanet:156071"} xref: ICD10CM:H18.60 {source="DOID:10126"} xref: ICD9:371.6 {source="DOID:10126"} xref: ICD9:371.60 {source="DOID:10126", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10023353 {source="ORDO:156071/e", source="Orphanet:156071"} -xref: MESH:D007640 {source="DOID:10126", source="MONDO:equivalentTo", source="ORDO:156071/e", source="Orphanet:156071"} +xref: MedDRA:10023353 {source="Orphanet:156071/e", source="Orphanet:156071"} +xref: MESH:D007640 {source="DOID:10126", source="Orphanet:156071/e", source="MONDO:equivalentTo", source="Orphanet:156071"} xref: NCIT:C26806 {source="DOID:10126", source="MONDO:equivalentTo"} xref: OMIM:148300 {source="DOID:10126", source="MONDO:superClassOf"} xref: OMIM:608586 {source="DOID:10126", source="MONDO:superClassOf"} @@ -307231,7 +307072,7 @@ xref: SCTID:193843006 {source="DOID:10126"} xref: SCTID:193846003 {source="DOID:10126"} xref: SCTID:267733008 {source="DOID:10126"} xref: SCTID:65636009 {source="DOID:10126", source="MONDO:equivalentTo"} -xref: UMLS:C0022578 {source="DOID:10126", source="NCIT:C26806", source="MONDO:equivalentTo", source="ORDO:156071/e", source="Orphanet:156071"} +xref: UMLS:C0022578 {source="DOID:10126", source="NCIT:C26806", source="Orphanet:156071/e", source="MONDO:equivalentTo", source="Orphanet:156071"} is_a: MONDO:0000942 {source="DOID:10126", source="MESH:D007640", source="NCIT:C26806/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disorder is_a: MONDO:0005328 {source="Orphanet:156071"} ! eye disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare @@ -307253,11 +307094,11 @@ synonym: "fatal infantile cytochrome C oxidase deficiency" RELATED [Orphanet:156 synonym: "fatal infantile encephalomyopathy" RELATED [GARD:0001113] xref: DOID:0050713 {source="MONDO:equivalentTo"} xref: GARD:0001113 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="Orphanet:1561", source="ORDO:1561/attributed", source="ORDO:1561/ntbt"} -xref: OMIM:604377 {source="Orphanet:1561", source="MONDO:superClassOf", source="DOID:0050713", source="ORDO:1561/btnt"} -xref: OMIM:615119 {source="Orphanet:1561", source="MONDO:superClassOf", source="DOID:0050713", source="ORDO:1561/btnt"} -xref: OMIM:616500 {source="Orphanet:1561", source="MONDO:superClassOf", source="ORDO:1561/btnt"} -xref: OMIM:616501 {source="Orphanet:1561", source="MONDO:superClassOf", source="ORDO:1561/btnt"} +xref: ICD10CM:G71.3 {source="Orphanet:1561", source="Orphanet:1561/attributed", source="Orphanet:1561/ntbt"} +xref: OMIM:604377 {source="Orphanet:1561", source="Orphanet:1561/btnt", source="MONDO:superClassOf", source="DOID:0050713"} +xref: OMIM:615119 {source="Orphanet:1561", source="Orphanet:1561/btnt", source="MONDO:superClassOf", source="DOID:0050713"} +xref: OMIM:616500 {source="Orphanet:1561", source="Orphanet:1561/btnt", source="MONDO:superClassOf"} +xref: OMIM:616501 {source="Orphanet:1561", source="Orphanet:1561/btnt", source="MONDO:superClassOf"} xref: Orphanet:1561 {source="MONDO:equivalentTo", source="DOID:0050713"} xref: SCTID:718124006 {source="MONDO:equivalentTo"} xref: UMLS:C1858424 {source="Orphanet:1561", source="MONDO:notFoundInDiseaseSubset"} @@ -307308,9 +307149,9 @@ synonym: "AAV" EXACT ABBREVIATION [Orphanet:156152] synonym: "ANCA-associated vasculitis" EXACT [Orphanet:156152] synonym: "antineutrophil cytoplasmic antibody-associated vasculitis" EXACT [Orphanet:156152] xref: GARD:0013011 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MESH:D056648 {source="MONDO:equivalentTo", source="ORDO:156152/e", source="Orphanet:156152"} +xref: MESH:D056648 {source="Orphanet:156152/e", source="MONDO:equivalentTo", source="Orphanet:156152"} xref: Orphanet:156152 {source="MONDO:equivalentTo"} -xref: UMLS:C2717865 {source="MONDO:equivalentTo", source="ORDO:156152/e", source="Orphanet:156152"} +xref: UMLS:C2717865 {source="Orphanet:156152/e", source="MONDO:equivalentTo", source="Orphanet:156152"} is_a: MONDO:0015490 {source="Orphanet:156152"} ! predominantly small-vessel vasculitis [Term] @@ -307330,7 +307171,7 @@ synonym: "isolated dystonic disorder" EXACT [] synonym: "nonsyndromic dystonia (disease)" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic dystonic disorder" EXACT [MONDO:patterns/isolated] synonym: "Pure dystonia" EXACT [Orphanet:156159] -xref: ICD10CM:G24.1 {source="Orphanet:156159", source="ORDO:156159/attributed", source="ORDO:156159/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:156159/attributed", source="Orphanet:156159/ntbt", source="Orphanet:156159"} xref: Orphanet:156159 {source="MONDO:equivalentTo"} is_a: MONDO:0044807 {source="Orphanet:156159"} ! inherited dystonia intersection_of: MONDO:0003441 ! dystonic disorder @@ -307357,13 +307198,13 @@ subset: ordo_group_of_disorders {source="Orphanet:156207"} synonym: "enlarged tongue" RELATED [GARD:0003342] synonym: "giant tongue" RELATED [GARD:0003342] xref: GARD:0003342 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q38.2 {source="Orphanet:156207", source="ORDO:156207/e", source="ORDO:156207/specific"} -xref: MedDRA:10025391 {source="Orphanet:156207", source="ORDO:156207/e"} -xref: MESH:C531735 {source="MONDO:superClassOf", source="Orphanet:156207", source="ORDO:156207/e"} -xref: MESH:D008260 {source="MONDO:equivalentTo", source="Orphanet:156207", source="ORDO:156207/e"} +xref: ICD10CM:Q38.2 {source="Orphanet:156207/specific", source="Orphanet:156207", source="Orphanet:156207/e"} +xref: MedDRA:10025391 {source="Orphanet:156207", source="Orphanet:156207/e"} +xref: MESH:C531735 {source="MONDO:superClassOf", source="Orphanet:156207", source="Orphanet:156207/e"} +xref: MESH:D008260 {source="MONDO:equivalentTo", source="Orphanet:156207", source="Orphanet:156207/e"} xref: Orphanet:156207 {source="MONDO:equivalentTo"} -xref: UMLS:C0009677 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:156207", source="ORDO:156207/e"} -xref: UMLS:C0024421 {source="MONDO:equivalentTo", source="Orphanet:156207", source="ORDO:156207/e"} +xref: UMLS:C0009677 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:156207", source="Orphanet:156207/e"} +xref: UMLS:C0024421 {source="MONDO:equivalentTo", source="Orphanet:156207", source="Orphanet:156207/e"} is_a: MONDO:0015961 {source="Orphanet:156207"} ! genetic head and neck malformation is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton @@ -307373,7 +307214,7 @@ id: MONDO:0015497 name: hypoglossia/aglossia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156212"} -xref: ICD10CM:Q38.3 {source="Orphanet:156212", source="ORDO:156212/inclusion", source="ORDO:156212/ntbt"} +xref: ICD10CM:Q38.3 {source="Orphanet:156212/inclusion", source="Orphanet:156212", source="Orphanet:156212/ntbt"} xref: Orphanet:156212 {source="MONDO:equivalentTo"} is_a: MONDO:0015961 {source="Orphanet:156212"} ! genetic head and neck malformation is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis @@ -307393,7 +307234,7 @@ id: MONDO:0015499 name: paralytic facial malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156224"} -xref: ICD10CM:Q87.0 {source="Orphanet:156224", source="ORDO:156224/attributed", source="ORDO:156224/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:156224/attributed", source="Orphanet:156224/ntbt", source="Orphanet:156224"} xref: Orphanet:156224 {source="MONDO:equivalentTo"} is_a: MONDO:0015961 {source="Orphanet:156224"} ! genetic head and neck malformation is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis @@ -307407,7 +307248,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:0012663"} subset: ordo_group_of_disorders {source="Orphanet:156230"} xref: GARD:0012663 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q27.3 {source="ORDO:156230/ntbt", source="Orphanet:156230"} +xref: ICD10CM:Q27.3 {source="Orphanet:156230/ntbt", source="Orphanet:156230"} xref: Orphanet:156230 {source="MONDO:equivalentTo"} is_a: MONDO:0001256 {source="Orphanet:156230"} ! arteriovenous hemangioma/malformation relationship: has_modifier MONDO:0021136 {source="MONDO:0016234"} ! rare @@ -307439,12 +307280,12 @@ id: MONDO:0015503 name: nose and cavum anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156246"} -xref: ICD10CM:Q30.0 {source="Orphanet:156246", source="MONDO:superClassOf", source="ORDO:156246/btnt"} -xref: ICD10CM:Q30.1 {source="Orphanet:156246", source="ORDO:156246/btnt"} -xref: ICD10CM:Q30.2 {source="Orphanet:156246", source="ORDO:156246/btnt"} -xref: ICD10CM:Q30.3 {source="Orphanet:156246", source="ORDO:156246/btnt"} -xref: ICD10CM:Q30.8 {source="Orphanet:156246", source="ORDO:156246/btnt"} -xref: ICD10CM:Q30.9 {source="Orphanet:156246", source="ORDO:156246/btnt"} +xref: ICD10CM:Q30.0 {source="Orphanet:156246/btnt", source="Orphanet:156246", source="MONDO:superClassOf"} +xref: ICD10CM:Q30.1 {source="Orphanet:156246/btnt", source="Orphanet:156246"} +xref: ICD10CM:Q30.2 {source="Orphanet:156246/btnt", source="Orphanet:156246"} +xref: ICD10CM:Q30.3 {source="Orphanet:156246/btnt", source="Orphanet:156246"} +xref: ICD10CM:Q30.8 {source="Orphanet:156246/btnt", source="Orphanet:156246"} +xref: ICD10CM:Q30.9 {source="Orphanet:156246/btnt", source="Orphanet:156246"} xref: Orphanet:156246 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease @@ -307454,12 +307295,12 @@ id: MONDO:0015504 name: larynx anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156249"} -xref: ICD10CM:Q31.0 {source="ORDO:156249/btnt", source="Orphanet:156249"} -xref: ICD10CM:Q31.1 {source="ORDO:156249/btnt", source="Orphanet:156249", source="MONDO:superClassOf"} -xref: ICD10CM:Q31.3 {source="ORDO:156249/btnt", source="Orphanet:156249", source="MONDO:superClassOf"} -xref: ICD10CM:Q31.5 {source="ORDO:156249/btnt", source="Orphanet:156249", source="MONDO:superClassOf"} -xref: ICD10CM:Q31.8 {source="ORDO:156249/btnt", source="Orphanet:156249"} -xref: ICD10CM:Q31.9 {source="ORDO:156249/btnt", source="Orphanet:156249"} +xref: ICD10CM:Q31.0 {source="Orphanet:156249", source="Orphanet:156249/btnt"} +xref: ICD10CM:Q31.1 {source="Orphanet:156249", source="MONDO:superClassOf", source="Orphanet:156249/btnt"} +xref: ICD10CM:Q31.3 {source="Orphanet:156249", source="MONDO:superClassOf", source="Orphanet:156249/btnt"} +xref: ICD10CM:Q31.5 {source="Orphanet:156249", source="MONDO:superClassOf", source="Orphanet:156249/btnt"} +xref: ICD10CM:Q31.8 {source="Orphanet:156249", source="Orphanet:156249/btnt"} +xref: ICD10CM:Q31.9 {source="Orphanet:156249", source="Orphanet:156249/btnt"} xref: Orphanet:156249 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease @@ -307617,16 +307458,16 @@ synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [D xref: DOID:0060235 {source="MONDO:equivalentTo"} xref: GARD:0001121 {source="MONDO:equivalentTo"} xref: HGNC:2330 {source="GARD:0001121"} -xref: ICD10CM:E71.3 {source="ORDO:157/attributed", source="ORDO:157/ntbt", source="Orphanet:157"} +xref: ICD10CM:E71.3 {source="Orphanet:157/attributed", source="Orphanet:157/ntbt", source="Orphanet:157"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535589 {source="DOID:0060235", source="MONDO:equivalentTo", source="ORDO:157/e", source="Orphanet:157"} +xref: MESH:C535589 {source="DOID:0060235", source="Orphanet:157/e", source="MONDO:equivalentTo", source="Orphanet:157"} xref: NCIT:C114766 {source="DOID:0060235", source="MONDO:equivalentTo"} -xref: OMIM:255110 {source="DOID:0060235", source="MONDO:superClassOf", source="ORDO:157/btnt", source="Orphanet:157"} -xref: OMIM:600649 {source="DOID:0060235", source="MONDO:superClassOf", source="ORDO:157/btnt", source="Orphanet:157"} -xref: OMIM:608836 {source="DOID:0060235", source="MONDO:superClassOf", source="ORDO:157/btnt", source="Orphanet:157"} +xref: OMIM:255110 {source="DOID:0060235", source="MONDO:superClassOf", source="Orphanet:157/btnt", source="Orphanet:157"} +xref: OMIM:600649 {source="DOID:0060235", source="MONDO:superClassOf", source="Orphanet:157/btnt", source="Orphanet:157"} +xref: OMIM:608836 {source="DOID:0060235", source="MONDO:superClassOf", source="Orphanet:157/btnt", source="Orphanet:157"} xref: Orphanet:157 {source="DOID:0060235", source="MONDO:equivalentTo"} xref: SCTID:238002005 {source="DOID:0060235", source="MONDO:equivalentTo"} -xref: UMLS:C0342790 {source="DOID:0060235", source="MONDO:equivalentTo", source="NCIT:C114766", source="ORDO:157/e", source="Orphanet:157"} +xref: UMLS:C0342790 {source="DOID:0060235", source="Orphanet:157/e", source="MONDO:equivalentTo", source="NCIT:C114766", source="Orphanet:157"} is_a: MONDO:0016117 {source="Orphanet:157"} ! muscular lipidosis is_a: MONDO:0017716 {source="Orphanet:157"} ! disorder of carnitine cycle and carnitine transport property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency xsd:anyURI {source="GARD:0001121"} @@ -307637,7 +307478,7 @@ name: symbrachydactyly of hands and feet def: "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." [Orphanet:1570] subset: ordo_malformation_syndrome {source="Orphanet:1570"} synonym: "De Smet-Fabry-Fryns syndrome" EXACT [Orphanet:1570] -xref: ICD10CM:Q73.8 {source="ORDO:1570/attributed", source="ORDO:1570/ntbt", source="Orphanet:1570"} +xref: ICD10CM:Q73.8 {source="Orphanet:1570/attributed", source="Orphanet:1570/ntbt", source="Orphanet:1570"} xref: Orphanet:1570 {source="MONDO:equivalentTo"} xref: UMLS:C2931719 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1570"} is_a: MONDO:0017424 {source="Orphanet:1570"} ! non-syndromic brachydactyly @@ -307663,32 +307504,32 @@ synonym: "sporadic hypogammaglobulinemia" EXACT [DOID:12177] xref: DOID:12177 {source="MONDO:equivalentTo"} xref: GARD:0006140 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:D83 {source="DOID:12177"} -xref: ICD10CM:D83.0 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"} -xref: ICD10CM:D83.1 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"} -xref: ICD10CM:D83.2 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"} -xref: ICD10CM:D83.8 {source="Orphanet:1572", source="ORDO:1572/specific", source="ORDO:1572/btnt"} -xref: ICD10CM:D83.9 {source="Orphanet:1572", source="ORDO:1572/specific", source="DOID:12177", source="ORDO:1572/btnt"} +xref: ICD10CM:D83.0 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"} +xref: ICD10CM:D83.1 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"} +xref: ICD10CM:D83.2 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"} +xref: ICD10CM:D83.8 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"} +xref: ICD10CM:D83.9 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="DOID:12177", source="Orphanet:1572/specific"} xref: ICD9:279.06 {source="MONDO:equivalentTo", source="i2s", source="DOID:12177"} -xref: MedDRA:10021449 {source="Orphanet:1572", source="ORDO:1572/e"} -xref: MESH:D017074 {source="Orphanet:1572", source="ORDO:1572/e", source="MONDO:equivalentTo", source="DOID:12177"} +xref: MedDRA:10021449 {source="Orphanet:1572", source="Orphanet:1572/e"} +xref: MESH:D017074 {source="Orphanet:1572", source="MONDO:equivalentTo", source="Orphanet:1572/e", source="DOID:12177"} xref: NCIT:C26725 {source="MONDO:equivalentTo"} -xref: OMIM:146830 {source="Orphanet:1572", source="MONDO:superClassOf", source="ORDO:1572/btnt"} -xref: OMIM:240500 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} -xref: OMIM:607594 {source="Orphanet:1572", source="ORDO:1572/e", source="MONDO:superClassOf", source="DOID:12177"} -xref: OMIM:613493 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} -xref: OMIM:613494 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} -xref: OMIM:613495 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} -xref: OMIM:613496 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} -xref: OMIM:614699 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} +xref: OMIM:146830 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf"} +xref: OMIM:240500 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} +xref: OMIM:607594 {source="Orphanet:1572", source="Orphanet:1572/e", source="MONDO:superClassOf", source="DOID:12177"} +xref: OMIM:613493 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} +xref: OMIM:613494 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} +xref: OMIM:613495 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} +xref: OMIM:613496 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} +xref: OMIM:614699 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} xref: OMIM:614700 {source="MONDO:superClassOf", source="DOID:12177"} -xref: OMIM:615577 {source="Orphanet:1572", source="MONDO:superClassOf", source="DOID:12177", source="ORDO:1572/btnt"} +xref: OMIM:615577 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf", source="DOID:12177"} xref: OMIM:615767 {source="MONDO:superClassOf", source="DOID:12177"} -xref: OMIM:616576 {source="Orphanet:1572", source="MONDO:superClassOf", source="ORDO:1572/btnt"} +xref: OMIM:616576 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="MONDO:superClassOf"} xref: OMIMPS:607594 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="MONDO:equivalentTo", source="DOID:12177"} xref: SCTID:191010004 {source="DOID:12177"} xref: SCTID:23238000 {source="MONDO:equivalentTo", source="DOID:12177"} -xref: UMLS:C0009447 {source="Orphanet:1572", source="ORDO:1572/e", source="MONDO:equivalentTo", source="DOID:12177", source="NCIT:C26725"} +xref: UMLS:C0009447 {source="Orphanet:1572", source="MONDO:equivalentTo", source="Orphanet:1572/e", source="DOID:12177", source="NCIT:C26725"} is_a: MONDO:0015132 {source="MONDO:Redundant", source="Orphanet:1572", source="indirect"} ! immunodeficiency predominantly affecting antibody production is_a: MONDO:0015356 {source="Orphanet:1572", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0016463 {source="NCIT:C26725"} ! syndromic agammaglobulinemia @@ -307709,9 +307550,9 @@ synonym: "SNDI" RELATED ABBREVIATION [GARD:0005040] synonym: "striatal degeneration familial" RELATED [GARD:0005040] synonym: "striatonigral degeneration infantile" RELATED [GARD:0005040] xref: GARD:0005040 {source="MONDO:equivalentTo"} -xref: ICD10CM:G23.2 {source="MONDO:relatedTo", source="Orphanet:1576", source="ORDO:1576/attributed", source="ORDO:1576/ntbt"} -xref: OMIM:271930 {source="Orphanet:1576", source="ORDO:1576/btnt", source="MONDO:superClassOf", source="GARD:0005040"} -xref: OMIM:500003 {source="Orphanet:1576", source="ORDO:1576/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:G23.2 {source="Orphanet:1576/attributed", source="Orphanet:1576/ntbt", source="MONDO:relatedTo", source="Orphanet:1576"} +xref: OMIM:271930 {source="Orphanet:1576/btnt", source="Orphanet:1576", source="MONDO:superClassOf", source="GARD:0005040"} +xref: OMIM:500003 {source="Orphanet:1576/btnt", source="Orphanet:1576", source="MONDO:superClassOf"} xref: Orphanet:1576 {source="MONDO:equivalentTo", source="GARD:0005040"} xref: SCTID:718174008 {source="MONDO:equivalentTo"} xref: UMLS:C0795996 {source="Orphanet:1576", source="MONDO:equivalentTo", source="GARD:0005040"} @@ -307724,8 +307565,8 @@ relationship: excluded_subClassOf MONDO:0017662 {source="Orphanet:1576"} ! obsol id: MONDO:0015519 name: congenital or early infantile CACH syndrome subset: ordo_clinical_subtype {source="Orphanet:157713"} -xref: ICD10CM:E75.2 {source="ORDO:157713/attributed", source="ORDO:157713/ntbt", source="Orphanet:157713"} -xref: OMIM:603896 {source="MONDO:subClassOf", source="ORDO:157713/ntbt", source="Orphanet:157713"} +xref: ICD10CM:E75.2 {source="Orphanet:157713", source="Orphanet:157713/attributed", source="Orphanet:157713/ntbt"} +xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:157713", source="Orphanet:157713/ntbt"} xref: Orphanet:157713 {source="MONDO:equivalentTo"} is_a: MONDO:0011380 {source="Orphanet:157713"} ! leukoencephalopathy with vanishing white matter relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -307736,8 +307577,8 @@ property_value: confidence "11.952380952380949" xsd:double id: MONDO:0015520 name: late infantile CACH syndrome subset: ordo_clinical_subtype {source="Orphanet:157716"} -xref: ICD10CM:E75.2 {source="ORDO:157716/attributed", source="ORDO:157716/ntbt", source="Orphanet:157716"} -xref: OMIM:603896 {source="MONDO:subClassOf", source="ORDO:157716/ntbt", source="Orphanet:157716"} +xref: ICD10CM:E75.2 {source="Orphanet:157716", source="Orphanet:157716/attributed", source="Orphanet:157716/ntbt"} +xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:157716", source="Orphanet:157716/ntbt"} xref: Orphanet:157716 {source="MONDO:equivalentTo"} xref: UMLS:CN199659 {source="MONDO:equivalentTo"} is_a: MONDO:0011380 {source="Orphanet:157716"} ! leukoencephalopathy with vanishing white matter @@ -307747,8 +307588,8 @@ property_value: confidence "11.952380952380949" xsd:double id: MONDO:0015521 name: juvenile or adult CACH syndrome subset: ordo_clinical_subtype {source="Orphanet:157719"} -xref: ICD10CM:E75.2 {source="ORDO:157719/attributed", source="ORDO:157719/ntbt", source="Orphanet:157719"} -xref: OMIM:603896 {source="MONDO:subClassOf", source="ORDO:157719/ntbt", source="Orphanet:157719"} +xref: ICD10CM:E75.2 {source="Orphanet:157719/attributed", source="Orphanet:157719/ntbt", source="Orphanet:157719"} +xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:157719/ntbt", source="Orphanet:157719"} xref: Orphanet:157719 {source="MONDO:equivalentTo"} xref: UMLS:CN199660 {source="MONDO:equivalentTo"} is_a: MONDO:0011380 {source="Orphanet:157719"} ! leukoencephalopathy with vanishing white matter @@ -307762,12 +307603,12 @@ synonym: "incomplete situs inversus" EXACT [Orphanet:157769] synonym: "partial situs inversus" EXACT [Orphanet:157769] synonym: "situs ambiguous" EXACT [Orphanet:157769] xref: GARD:0010875 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q89.3 {source="ORDO:157769/attributed", source="ORDO:157769/ntbt", source="Orphanet:157769", source="MONDO:directSiblingOf"} -xref: MedDRA:10059119 {source="Orphanet:157769", source="ORDO:157769/e"} +xref: ICD10CM:Q89.3 {source="Orphanet:157769", source="MONDO:directSiblingOf", source="Orphanet:157769/attributed", source="Orphanet:157769/ntbt"} +xref: MedDRA:10059119 {source="Orphanet:157769", source="Orphanet:157769/e"} xref: Orphanet:157769 {source="MONDO:equivalentTo"} xref: SCTID:14821001 {source="MONDO:equivalentTo"} -xref: UMLS:C0266642 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:157769", source="ORDO:157769/e"} -xref: UMLS:C1167664 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:157769", source="ORDO:157769/e"} +xref: UMLS:C0266642 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:157769", source="Orphanet:157769/e"} +xref: UMLS:C1167664 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:157769", source="Orphanet:157769/e"} is_a: MONDO:0017131 {source="Orphanet:157769"} ! genetic cardiac anomaly is_a: MONDO:0018677 {source="Orphanet:157769"} ! visceral heterotaxy @@ -307781,17 +307622,17 @@ synonym: "epithelioid angiosarcoma" EXACT [NCIT:C3800] synonym: "epithelioid hemangioendothelioma" EXACT [NCIT:C3800] synonym: "malignant epithelioid hemangioendothelioma" EXACT [MONDO:0000899] xref: DOID:0080190 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="ORDO:157791/attributed", source="ORDO:157791/ntbt", source="Orphanet:157791"} +xref: ICD10CM:D18.0 {source="Orphanet:157791/attributed", source="Orphanet:157791/ntbt", source="Orphanet:157791"} xref: ICDO:9130/3 {source="NCIT:C3800"} xref: ICDO:9133/1 {source="NCIT:C3800"} xref: ICDO:9133/3 {source="NCIT:C3800"} -xref: MESH:D018323 {source="MONDO:equivalentTo", source="ORDO:157791/e", source="Orphanet:157791"} +xref: MESH:D018323 {source="Orphanet:157791/e", source="MONDO:equivalentTo", source="Orphanet:157791"} xref: NCIT:C3800 {source="MONDO:equivalentTo", source="DOID:0080190"} xref: ONCOTREE:EHAE {source="MONDO:equivalentTo"} xref: Orphanet:157791 {source="MONDO:equivalentTo"} xref: SCTID:403981003 {source="MONDO:relatedTo"} xref: SCTID:54124005 {source="MONDO:equivalentTo"} -xref: UMLS:C0206732 {source="MONDO:equivalentTo", source="NCIT:C3800", source="ORDO:157791/e", source="Orphanet:157791"} +xref: UMLS:C0206732 {source="Orphanet:157791/e", source="MONDO:equivalentTo", source="NCIT:C3800", source="Orphanet:157791"} is_a: MONDO:0002095 {source="MESH:D018323/inferred", source="NCIT:C3800"} ! vascular cancer is_a: MONDO:0021121 {source="MESH:D018323", source="NCIT:C3800", source="linkedlifedata"} ! hemangioendothelioma is_a: MONDO:0024296 {source="Orphanet:157791", source="indirect"} ! vascular neoplasm @@ -307804,10 +307645,10 @@ name: hyperplastic polyposis syndrome def: "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." [Orphanet:157798] subset: ordo_disease {source="Orphanet:157798"} synonym: "serrated polyposis" EXACT [Orphanet:157798] -xref: ICD10CM:D12.6 {source="Orphanet:157798", source="ORDO:157798/attributed", source="ORDO:157798/ntbt"} +xref: ICD10CM:D12.6 {source="Orphanet:157798/attributed", source="Orphanet:157798/ntbt", source="Orphanet:157798"} xref: NCIT:C165469 {source="MONDO:equivalentTo"} -xref: OMIM:175020 {source="MONDO:relatedTo", source="Orphanet:157798", source="ORDO:157798/btnt", source="MONDO:superClassOf"} -xref: OMIM:617108 {source="Orphanet:157798", source="ORDO:157798/btnt", source="MONDO:superClassOf"} +xref: OMIM:175020 {source="Orphanet:157798/btnt", source="MONDO:relatedTo", source="Orphanet:157798", source="MONDO:superClassOf"} +xref: OMIM:617108 {source="Orphanet:157798/btnt", source="Orphanet:157798", source="MONDO:superClassOf"} xref: Orphanet:157798 {source="MONDO:equivalentTo"} xref: SCTID:763536006 {source="MONDO:equivalentTo"} xref: UMLS:CN199665 {source="MONDO:equivalentTo"} @@ -307823,7 +307664,7 @@ synonym: "congenital pseudarthrosis of the limbs" EXACT [Orphanet:157808] synonym: "congenital pseudoarthrosis" RELATED [GARD:0009722] xref: GARD:0009722 {source="MONDO:equivalentTo"} xref: MESH:C535762 {source="MONDO:equivalentTo"} -xref: OMIM:609143 {source="MONDO:superClassOf", source="ORDO:157808/btnt", source="Orphanet:157808"} +xref: OMIM:609143 {source="MONDO:superClassOf", source="Orphanet:157808/btnt", source="Orphanet:157808"} xref: Orphanet:157808 {source="MONDO:equivalentTo"} xref: UMLS:C0332881 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009722"} is_a: MONDO:0015227 {source="Orphanet:157808"} ! non-syndromic limb malformation @@ -307841,11 +307682,11 @@ synonym: "CISS" EXACT ABBREVIATION [Orphanet:157820] synonym: "Crisponi syndrome" EXACT EXCLUDE [DOID:0060294] synonym: "Sohar-Crisponi syndrome" EXACT [DOID:0060294] xref: DOID:0060294 {source="MONDO:equivalentTo"} -xref: ICD10CM:G90.8 {source="Orphanet:157820", source="ORDO:157820/attributed", source="ORDO:157820/ntbt"} +xref: ICD10CM:G90.8 {source="Orphanet:157820/attributed", source="Orphanet:157820/ntbt", source="Orphanet:157820"} xref: MESH:C536214 {source="MONDO:superClassOf", source="DOID:0060294"} -xref: OMIM:272430 {source="Orphanet:157820", source="ORDO:157820/e", source="MONDO:superClassOf", source="DOID:0060294"} -xref: OMIM:610313 {source="Orphanet:157820", source="ORDO:157820/btnt", source="MONDO:superClassOf", source="DOID:0060294"} -xref: OMIM:617055 {source="Orphanet:157820", source="ORDO:157820/btnt", source="MONDO:superClassOf"} +xref: OMIM:272430 {source="Orphanet:157820", source="MONDO:superClassOf", source="Orphanet:157820/e", source="DOID:0060294"} +xref: OMIM:610313 {source="Orphanet:157820/btnt", source="Orphanet:157820", source="MONDO:superClassOf", source="DOID:0060294"} +xref: OMIM:617055 {source="Orphanet:157820/btnt", source="Orphanet:157820", source="MONDO:superClassOf"} xref: OMIMPS:272430 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:157820 {source="MONDO:equivalentTo", source="DOID:0060294"} xref: SCTID:702363009 {source="MONDO:equivalentTo", source="DOID:0060294"} @@ -307873,7 +307714,7 @@ xref: NCIT:C4675 {source="MONDO:equivalentTo", source="DOID:7280"} xref: Orphanet:157826 {source="MONDO:equivalentTo"} xref: SCTID:25511009 {source="DOID:7280"} xref: SCTID:360525006 {source="MONDO:equivalentTo", source="DOID:7280"} -xref: UMLS:C0376319 {source="MONDO:equivalentTo", source="DOID:7280", source="NCIT:C4675", source="Orphanet:157826", source="ORDO:157826/e"} +xref: UMLS:C0376319 {source="Orphanet:157826/e", source="MONDO:equivalentTo", source="DOID:7280", source="NCIT:C4675", source="Orphanet:157826"} is_a: MONDO:0003396 {source="DOID:7280"} ! epulis is_a: MONDO:0006424 {source="Orphanet:157826"} ! soft tissue neoplasm is_a: MONDO:0006499 {source="NCIT:C4675", source="NCIT:C4675/inferred"} ! hamartoma @@ -307891,13 +307732,13 @@ subset: gard_rare {source="GARD:0010794"} subset: ordo_disease {source="Orphanet:157835"} xref: EFO:1001822 {source="MONDO:equivalentTo"} xref: GARD:0010794 {source="MONDO:equivalentTo"} -xref: ICD10CM:G44.0 {source="ORDO:157835/ntbt", source="Orphanet:157835"} +xref: ICD10CM:G44.0 {source="Orphanet:157835", source="Orphanet:157835/ntbt"} xref: ICD9:339.03 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10019461 {source="Orphanet:157835", source="ORDO:157835/e"} -xref: MESH:D051302 {source="MONDO:equivalentTo", source="Orphanet:157835", source="ORDO:157835/e"} +xref: MedDRA:10019461 {source="Orphanet:157835", source="Orphanet:157835/e"} +xref: MESH:D051302 {source="MONDO:equivalentTo", source="Orphanet:157835", source="Orphanet:157835/e"} xref: Orphanet:157835 {source="MONDO:equivalentTo"} xref: SCTID:443094001 {source="MONDO:equivalentTo"} -xref: UMLS:C1399352 {source="MONDO:equivalentTo", source="Orphanet:157835", source="ORDO:157835/e"} +xref: UMLS:C1399352 {source="MONDO:equivalentTo", source="Orphanet:157835", source="Orphanet:157835/e"} is_a: MONDO:0015530 {source="MESH:D051302", source="Orphanet:157835", source="linkedlifedata"} ! trigeminal autonomic cephalalgia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania xsd:anyURI {source="GARD:0010794"} @@ -307907,13 +307748,13 @@ name: trigeminal autonomic cephalalgia def: "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." [NCIT:C117074] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:157843"} -xref: ICD10CM:G44.8 {source="ORDO:157843/ntbt", source="Orphanet:157843"} +xref: ICD10CM:G44.8 {source="Orphanet:157843", source="Orphanet:157843/ntbt"} xref: ICD9:339.09 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D051303 {source="ORDO:157843/e", source="MONDO:equivalentTo", source="Orphanet:157843"} +xref: MESH:D051303 {source="MONDO:equivalentTo", source="Orphanet:157843", source="Orphanet:157843/e"} xref: NCIT:C117074 {source="MONDO:equivalentTo"} xref: Orphanet:157843 {source="MONDO:equivalentTo"} xref: SCTID:449814007 {source="MONDO:equivalentTo"} -xref: UMLS:C1565172 {source="ORDO:157843/e", source="MONDO:equivalentTo", source="Orphanet:157843", source="NCIT:C117074"} +xref: UMLS:C1565172 {source="MONDO:equivalentTo", source="Orphanet:157843", source="Orphanet:157843/e", source="NCIT:C117074"} is_a: MONDO:0017181 {source="MESH:D051303"} ! hypnic headache is_a: MONDO:0043218 {source="NCIT:C117074"} ! neurovascular disorder relationship: disease_has_location UBERON:0001645 ! trigeminal nerve @@ -307928,12 +307769,12 @@ synonym: "histiocytosis, non-Langerhans-cell" RELATED [GARD:0008231] synonym: "non-Langerhans-cell histiocytosis" EXACT [MONDO:0002964] xref: DOID:4330 {source="MONDO:equivalentTo"} xref: GARD:0008231 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D76.3 {source="ORDO:157987/ntbt", source="Orphanet:157987"} +xref: ICD10CM:D76.3 {source="Orphanet:157987", source="Orphanet:157987/ntbt"} xref: ICD9:288.4 {source="MONDO:equivalentTo", source="i2s"} -xref: MESH:D015616 {source="MONDO:equivalentTo", source="Orphanet:157987", source="ORDO:157987/e", source="DOID:4330"} +xref: MESH:D015616 {source="MONDO:equivalentTo", source="Orphanet:157987", source="Orphanet:157987/e", source="DOID:4330"} xref: Orphanet:157987 {source="MONDO:equivalentTo"} xref: SCTID:127069007 {source="MONDO:equivalentTo", source="DOID:4330"} -xref: UMLS:C0019624 {source="MONDO:equivalentTo", source="Orphanet:157987", source="ORDO:157987/e", source="DOID:4330"} +xref: UMLS:C0019624 {source="MONDO:equivalentTo", source="Orphanet:157987", source="Orphanet:157987/e", source="DOID:4330"} is_a: MONDO:0002637 {source="DOID:4330", source="MESH:D015616"} ! histiocytosis disjoint_from: MONDO:0018310 ! Langerhans cell histiocytosis relationship: excluded_subClassOf MONDO:0017368 {source="Orphanet:157987"} ! obsolete systemic disease with skin involvement @@ -307943,7 +307784,7 @@ id: MONDO:0015532 name: generalized eruptive histiocytosis subset: ordo_disease {source="Orphanet:157991"} synonym: "generalized eruptive histiocytoma" EXACT [Orphanet:157991] -xref: ICD10CM:D76.3 {source="Orphanet:157991", source="ORDO:157991/ntbt"} +xref: ICD10CM:D76.3 {source="Orphanet:157991", source="Orphanet:157991/ntbt"} xref: Orphanet:157991 {source="MONDO:equivalentTo"} xref: SCTID:110980006 {source="MONDO:equivalentTo"} xref: UMLS:C0347404 {source="MONDO:equivalentTo"} @@ -307953,11 +307794,11 @@ is_a: MONDO:0015531 {source="Orphanet:157991"} ! non-Langerhans cell histiocytos id: MONDO:0015533 name: benign cephalic histiocytosis subset: ordo_disease {source="Orphanet:157997"} -xref: ICD10CM:D76.3 {source="ORDO:157997/ntbt", source="Orphanet:157997"} +xref: ICD10CM:D76.3 {source="Orphanet:157997", source="Orphanet:157997/ntbt"} xref: ICD9:216.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:157997 {source="MONDO:equivalentTo"} xref: SCTID:255192005 {source="MONDO:equivalentTo"} -xref: UMLS:C0347403 {source="ORDO:157997/e", source="MONDO:equivalentTo", source="Orphanet:157997"} +xref: UMLS:C0347403 {source="MONDO:equivalentTo", source="Orphanet:157997", source="Orphanet:157997/e"} is_a: MONDO:0015531 {source="Orphanet:157997"} ! non-Langerhans cell histiocytosis [Term] @@ -307972,15 +307813,15 @@ synonym: "Naevoxanthoendothelioma" EXACT [DOID:4424] synonym: "xanthoma neviforme" EXACT [DOID:4424] xref: DOID:4424 {source="MONDO:equivalentTo"} xref: EFO:1000311 {source="MONDO:equivalentTo"} -xref: ICD10CM:D76.3 {source="ORDO:158000/ntbt", source="Orphanet:158000"} -xref: MESH:D014972 {source="DOID:4424", source="MONDO:equivalentTo", source="ORDO:158000/e", source="Orphanet:158000"} +xref: ICD10CM:D76.3 {source="Orphanet:158000/ntbt", source="Orphanet:158000"} +xref: MESH:D014972 {source="DOID:4424", source="Orphanet:158000/e", source="MONDO:equivalentTo", source="Orphanet:158000"} xref: NCIT:C3451 {source="DOID:4424", source="EFO:1000311", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:158000 {source="MONDO:equivalentTo"} xref: SCTID:189098009 {source="DOID:4424"} xref: SCTID:400031009 {source="DOID:4424"} xref: SCTID:400204000 {source="DOID:4424", source="MONDO:equivalentTo"} xref: SCTID:71709009 {source="DOID:4424"} -xref: UMLS:C0043324 {source="DOID:4424", source="NCIT:C3451", source="MONDO:equivalentTo", source="ORDO:158000/e", source="Orphanet:158000"} +xref: UMLS:C0043324 {source="DOID:4424", source="NCIT:C3451", source="Orphanet:158000/e", source="MONDO:equivalentTo", source="Orphanet:158000"} is_a: MONDO:0015531 {source="DOID:4424", source="MESH:D014972", source="Orphanet:158000"} ! non-Langerhans cell histiocytosis [Term] @@ -307990,11 +307831,11 @@ subset: gard_rare {source="GARD:0013186"} subset: ordo_disease {source="Orphanet:158003"} synonym: "Montgomery syndrome" EXACT [Orphanet:158003] xref: GARD:0013186 {source="MONDO:equivalentTo"} -xref: ICD10CM:D76.3 {source="Orphanet:158003", source="ORDO:158003/ntbt"} -xref: MedDRA:10052575 {source="Orphanet:158003", source="ORDO:158003/e"} +xref: ICD10CM:D76.3 {source="Orphanet:158003", source="Orphanet:158003/ntbt"} +xref: MedDRA:10052575 {source="Orphanet:158003", source="Orphanet:158003/e"} xref: Orphanet:158003 {source="MONDO:equivalentTo"} xref: SCTID:399970005 {source="MONDO:equivalentTo"} -xref: UMLS:C0043322 {source="Orphanet:158003", source="ORDO:158003/e", source="MONDO:equivalentTo"} +xref: UMLS:C0043322 {source="Orphanet:158003", source="MONDO:equivalentTo", source="Orphanet:158003/e"} is_a: MONDO:0015531 {source="Orphanet:158003"} ! non-Langerhans cell histiocytosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum xsd:anyURI {source="GARD:0013186"} @@ -308003,7 +307844,7 @@ id: MONDO:0015536 name: papular xanthoma def: "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." [Orphanet:158008] subset: ordo_disease {source="Orphanet:158008"} -xref: ICD10CM:D76.3 {source="ORDO:158008/ntbt", source="Orphanet:158008"} +xref: ICD10CM:D76.3 {source="Orphanet:158008", source="Orphanet:158008/ntbt"} xref: Orphanet:158008 {source="MONDO:equivalentTo"} xref: SCTID:765221009 {source="MONDO:equivalentTo"} xref: UMLS:CN199692 {source="MONDO:equivalentTo"} @@ -308018,12 +307859,12 @@ subset: ordo_disease {source="Orphanet:158011"} synonym: "NXG" RELATED ABBREVIATION [GARD:0010951] xref: EFO:1001376 {source="MONDO:equivalentTo"} xref: GARD:0010951 {source="MONDO:equivalentTo"} -xref: ICD10CM:D76.3 {source="ORDO:158011/ntbt", source="Orphanet:158011"} +xref: ICD10CM:D76.3 {source="Orphanet:158011/ntbt", source="Orphanet:158011"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D058252 {source="MONDO:equivalentTo", source="ORDO:158011/e", source="Orphanet:158011"} +xref: MESH:D058252 {source="Orphanet:158011/e", source="MONDO:equivalentTo", source="Orphanet:158011"} xref: Orphanet:158011 {source="MONDO:equivalentTo"} xref: SCTID:404164003 {source="MONDO:equivalentTo"} -xref: UMLS:C1275339 {source="MONDO:equivalentTo", source="ORDO:158011/e", source="Orphanet:158011"} +xref: UMLS:C1275339 {source="Orphanet:158011/e", source="MONDO:equivalentTo", source="Orphanet:158011"} is_a: MONDO:0015531 {source="Orphanet:158011"} ! non-Langerhans cell histiocytosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma xsd:anyURI {source="GARD:0010951"} @@ -308036,7 +307877,7 @@ synonym: "IDCT" RELATED ABBREVIATION [ONCOTREE:IDCT] synonym: "indeterminate cell histiocytosis" EXACT [NCIT:C81767] synonym: "indeterminate Dendritic cell tumor" EXACT [NCIT:C81767] synonym: "indeterminate dendritic cell tumor" EXACT [Orphanet:158019] -xref: ICD10CM:D76.3 {source="ORDO:158019/ntbt", source="Orphanet:158019"} +xref: ICD10CM:D76.3 {source="Orphanet:158019", source="Orphanet:158019/ntbt"} xref: NCIT:C81767 {source="MONDO:equivalentTo"} xref: ONCOTREE:IDCT {source="MONDO:equivalentTo"} xref: Orphanet:158019 {source="MONDO:equivalentTo"} @@ -308050,7 +307891,7 @@ id: MONDO:0015539 name: progressive nodular histiocytosis def: "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." [Orphanet:158022] subset: ordo_disease {source="Orphanet:158022"} -xref: ICD10CM:D76.3 {source="ORDO:158022/ntbt", source="Orphanet:158022"} +xref: ICD10CM:D76.3 {source="Orphanet:158022/ntbt", source="Orphanet:158022"} xref: Orphanet:158022 {source="MONDO:equivalentTo"} xref: SCTID:765141005 {source="MONDO:equivalentTo"} is_a: MONDO:0015531 {source="Orphanet:158022"} ! non-Langerhans cell histiocytosis @@ -308077,7 +307918,7 @@ xref: DOID:0050120 {source="MONDO:equivalentTo"} xref: GARD:0006589 {source="MONDO:equivalentTo"} xref: ICD10CM:D76.1 {source="DOID:0050120"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058125 {source="Orphanet:158032", source="ORDO:158032/e"} +xref: MedDRA:10058125 {source="Orphanet:158032/e", source="Orphanet:158032"} xref: MESH:D051359 {source="DOID:0050120"} xref: NCIT:C34792 {source="MONDO:equivalentTo", source="DOID:0050120"} xref: NCIT:C35439 {source="MONDO:equivalentTo"} @@ -308090,7 +307931,7 @@ xref: Orphanet:158032 {source="MONDO:equivalentTo"} xref: Orphanet:540 {source="GARD:0006589", source="MONDO:superClassOf", source="DOID:0050120"} xref: SCTID:190958003 {source="DOID:0050120"} xref: SCTID:234437005 {source="MONDO:equivalentTo", source="DOID:0050120"} -xref: UMLS:C0024291 {source="NCIT:C34792", source="MONDO:equivalentTo", source="Orphanet:158032", source="ORDO:158032/e", source="DOID:0050120"} +xref: UMLS:C0024291 {source="Orphanet:158032/e", source="NCIT:C34792", source="MONDO:equivalentTo", source="Orphanet:158032", source="DOID:0050120"} xref: UMLS:C3887558 {source="MONDO:equivalentTo", source="Orphanet:158032", source="NCIT:C35439"} is_a: MONDO:0002254 {source="NCIT:C34792/inferred", source="NCIT:C35439"} ! syndromic disease is_a: MONDO:0005046 {source="Orphanet:158032"} ! immune system disorder @@ -308113,12 +307954,12 @@ synonym: "genetic hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038] synonym: "genetic hemophagocytic syndrome" EXACT [MONDO:patterns/genetic] synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038] xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10070904 {source="Orphanet:158038", source="ORDO:158038/e"} +xref: MedDRA:10070904 {source="Orphanet:158038", source="Orphanet:158038/e"} xref: OMIMPS:267700 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:158038 {source="MONDO:relatedTo"} xref: Orphanet:540 {source="MONDO:equivalentTo"} xref: SCTID:398250003 {source="MONDO:equivalentTo"} -xref: UMLS:C0272199 {source="Orphanet:158038", source="ORDO:158038/e", source="MONDO:superClassOf"} +xref: UMLS:C0272199 {source="Orphanet:158038", source="MONDO:superClassOf", source="Orphanet:158038/e"} is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of immunity is_a: MONDO:0015540 {source="MONDO:Redundant", source="Orphanet:158038"} ! hemophagocytic syndrome intersection_of: MONDO:0015540 ! hemophagocytic syndrome @@ -308169,12 +308010,12 @@ synonym: "MAS" EXACT ABBREVIATION [NCIT:C114471] synonym: "reactive hemophagocytic lymphohistiocytosis" EXACT [NCIT:C114471] xref: EFO:1001806 {source="MONDO:equivalentTo"} xref: GARD:0012124 {source="MONDO:equivalentTo"} -xref: MedDRA:10053867 {source="Orphanet:158061", source="ORDO:158061/e"} -xref: MESH:D055501 {source="MONDO:equivalentTo", source="Orphanet:158061", source="ORDO:158061/e"} +xref: MedDRA:10053867 {source="Orphanet:158061", source="Orphanet:158061/e"} +xref: MESH:D055501 {source="MONDO:equivalentTo", source="Orphanet:158061", source="Orphanet:158061/e"} xref: NCIT:C114471 {source="MONDO:equivalentTo"} xref: Orphanet:158061 {source="MONDO:equivalentTo"} xref: SCTID:430478003 {source="MONDO:equivalentTo"} -xref: UMLS:C1096155 {source="NCIT:C114471", source="MONDO:equivalentTo", source="Orphanet:158061", source="ORDO:158061/e"} +xref: UMLS:C1096155 {source="NCIT:C114471", source="MONDO:equivalentTo", source="Orphanet:158061", source="Orphanet:158061/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C114471", source="indirect"} ! syndromic disease is_a: MONDO:0015542 {source="Orphanet:158061"} ! secondary hemophagocytic lymphohistiocytosis relationship: disease_has_basis_in_disruption_of GO:0042116 ! macrophage activation @@ -308188,7 +308029,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1581"} synonym: "non-distal deletion 10q" EXACT [Orphanet:1581] synonym: "non-distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:1581] synonym: "non-telomeric monosomy 10q" EXACT [Orphanet:1581] -xref: ICD10CM:Q93.5 {source="ORDO:1581/attributed", source="ORDO:1581/ntbt", source="Orphanet:1581"} +xref: ICD10CM:Q93.5 {source="Orphanet:1581/attributed", source="Orphanet:1581/ntbt", source="Orphanet:1581"} xref: Orphanet:1581 {source="MONDO:equivalentTo"} is_a: MONDO:0016909 {source="Orphanet:1581"} ! partial monosomy of the long arm of chromosome 10 relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human) @@ -308243,7 +308084,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:158661"} synonym: "epidermis suprabasal layer epidermolysis bullosa simplex" EXACT [MONDO:patterns/location] synonym: "epidermolysis bullosa simplex of epidermis suprabasal layer" EXACT [MONDO:design_pattern] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:158661/attributed", source="ORDO:158661/ntbt", source="Orphanet:158661"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158661/attributed", source="Orphanet:158661/ntbt", source="Orphanet:158661"} xref: Orphanet:158661 {source="MONDO:equivalentTo"} xref: SCTID:724840004 {source="MONDO:equivalentTo"} xref: UMLS:C4511300 {source="MONDO:equivalentTo"} @@ -308261,7 +308102,7 @@ subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:158665"} synonym: "epidermolysis bullosa simplex of stratum basale of epidermis" EXACT [MONDO:design_pattern] synonym: "stratum basale of epidermis epidermolysis bullosa simplex" EXACT [MONDO:patterns/location] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158665", source="ORDO:158665/attributed", source="ORDO:158665/ntbt"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:158665", source="Orphanet:158665/attributed", source="Orphanet:158665/ntbt"} xref: Orphanet:158665 {source="MONDO:equivalentTo"} xref: SCTID:723163000 {source="MONDO:equivalentTo"} xref: UMLS:C4302031 {source="MONDO:equivalentTo"} @@ -308279,7 +308120,7 @@ def: "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophi subset: ordo_disease {source="Orphanet:158673"} synonym: "DEB, acral" EXACT [Orphanet:158673] synonym: "DEB-ac" EXACT [Orphanet:158673] -xref: ICD10CM:Q81.2 {source="Orphanet:158673", source="ORDO:158673/attributed", source="ORDO:158673/ntbt"} +xref: ICD10CM:Q81.2 {source="Orphanet:158673", source="Orphanet:158673/attributed", source="Orphanet:158673/ntbt"} xref: Orphanet:158673 {source="MONDO:equivalentTo"} xref: SCTID:733638006 {source="MONDO:equivalentTo"} xref: UMLS:C4518087 {source="MONDO:equivalentTo"} @@ -308295,7 +308136,7 @@ synonym: "DEB-na" EXACT [Orphanet:158676] synonym: "dominant dystrophic epidermolysis bullosa, nails only" RELATED [Orphanet:158676] synonym: "nails-only DDEB" EXACT [Orphanet:158676] synonym: "nails-only DEB" EXACT [Orphanet:158676] -xref: ICD10CM:Q81.2 {source="Orphanet:158676", source="ORDO:158676/attributed", source="ORDO:158676/ntbt"} +xref: ICD10CM:Q81.2 {source="Orphanet:158676", source="Orphanet:158676/attributed", source="Orphanet:158676/ntbt"} xref: Orphanet:158676 {source="MONDO:equivalentTo"} xref: SCTID:722436002 {source="MONDO:equivalentTo"} xref: UMLS:CN199732 {source="MONDO:equivalentTo"} @@ -308305,7 +308146,7 @@ is_a: MONDO:0006543 {source="Orphanet:158676"} ! epidermolysis bullosa dystrophi id: MONDO:0015554 name: typical urticaria pigmentosa subset: ordo_clinical_subtype {source="Orphanet:158766"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158766", source="ORDO:158766/ntbt"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158766/ntbt", source="Orphanet:158766"} xref: Orphanet:158766 {source="MONDO:equivalentTo"} is_a: MONDO:0019316 {source="Orphanet:158766"} ! maculopapular cutaneous mastocytosis @@ -308313,7 +308154,7 @@ is_a: MONDO:0019316 {source="Orphanet:158766"} ! maculopapular cutaneous mastocy id: MONDO:0015555 name: plaque-form urticaria pigmentosa subset: ordo_clinical_subtype {source="Orphanet:158769"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:158769/ntbt", source="Orphanet:158769"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158769", source="Orphanet:158769/ntbt"} xref: Orphanet:158769 {source="MONDO:equivalentTo"} is_a: MONDO:0019316 {source="Orphanet:158769"} ! maculopapular cutaneous mastocytosis @@ -308321,7 +308162,7 @@ is_a: MONDO:0019316 {source="Orphanet:158769"} ! maculopapular cutaneous mastocy id: MONDO:0015556 name: nodular urticaria pigmentosa subset: ordo_clinical_subtype {source="Orphanet:158772"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158772", source="ORDO:158772/ntbt"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:158772", source="Orphanet:158772/ntbt"} xref: Orphanet:158772 {source="MONDO:equivalentTo"} is_a: MONDO:0019316 {source="Orphanet:158772"} ! maculopapular cutaneous mastocytosis @@ -308330,7 +308171,7 @@ id: MONDO:0015557 name: Smouldering systemic mastocytosis def: "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." [Orphanet:158775] subset: ordo_clinical_subtype {source="Orphanet:158775"} -xref: ICD10CM:C96.2 {source="Orphanet:158775", source="ORDO:158775/ntbt"} +xref: ICD10CM:C96.2 {source="Orphanet:158775", source="Orphanet:158775/ntbt"} xref: Orphanet:158775 {source="MONDO:equivalentTo"} is_a: MONDO:0020331 {source="Orphanet:158775"} ! indolent systemic mastocytosis @@ -308338,7 +308179,7 @@ is_a: MONDO:0020331 {source="Orphanet:158775"} ! indolent systemic mastocytosis id: MONDO:0015558 name: isolated bone marrow mastocytosis subset: ordo_clinical_subtype {source="Orphanet:158778"} -xref: ICD10CM:C96.2 {source="ORDO:158778/ntbt", source="Orphanet:158778"} +xref: ICD10CM:C96.2 {source="Orphanet:158778", source="Orphanet:158778/ntbt"} xref: Orphanet:158778 {source="MONDO:equivalentTo"} is_a: MONDO:0020331 {source="Orphanet:158778"} ! indolent systemic mastocytosis @@ -308346,7 +308187,7 @@ is_a: MONDO:0020331 {source="Orphanet:158778"} ! indolent systemic mastocytosis id: MONDO:0015559 name: lymphoadenopathic mastocytosis with eosinophilia subset: ordo_clinical_subtype {source="Orphanet:158793"} -xref: ICD10CM:C96.2 {source="ORDO:158793/ntbt", source="Orphanet:158793"} +xref: ICD10CM:C96.2 {source="Orphanet:158793/ntbt", source="Orphanet:158793"} xref: Orphanet:158793 {source="MONDO:equivalentTo"} is_a: MONDO:0020333 {source="Orphanet:158793"} ! aggressive systemic mastocytosis @@ -308354,7 +308195,7 @@ is_a: MONDO:0020333 {source="Orphanet:158793"} ! aggressive systemic mastocytosi id: MONDO:0015560 name: obsolete classic mast cell leukemia comment: obsoleted in Orphanet -xref: ICD10CM:C94.3 {source="Orphanet:158796", source="ORDO:158796/ntbt"} +xref: ICD10CM:C94.3 {source="Orphanet:158796/ntbt", source="Orphanet:158796"} xref: Orphanet:158796 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2137 xsd:anyURI is_obsolete: true @@ -308384,7 +308225,7 @@ synonym: "monosomy 17qter" EXACT [Orphanet:1597] synonym: "partial monosomy 17q" RELATED [GARD:0010972] synonym: "telomeric deletion 17q" EXACT [Orphanet:1597] xref: GARD:0010972 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:1597", source="ORDO:1597/attributed", source="ORDO:1597/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:1597/attributed", source="Orphanet:1597/ntbt", source="Orphanet:1597"} xref: Orphanet:1597 {source="MONDO:equivalentTo"} xref: SCTID:715365000 {source="MONDO:equivalentTo"} xref: UMLS:C4275171 {source="MONDO:equivalentTo"} @@ -308421,20 +308262,20 @@ xref: DOID:0111157 {source="MONDO:equivalentTo"} xref: EFO:1001332 {source="MONDO:equivalentTo"} xref: GARD:0000673 {source="MONDO:equivalentTo"} xref: GARD:0012656 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D47.4 {source="ORDO:160/ntbt", source="Orphanet:160"} +xref: ICD10CM:D47.4 {source="Orphanet:160", source="Orphanet:160/ntbt"} xref: ICD10CM:D47.Z2 {source="MONDO:equivalentTo", source="DOID:0111157"} -xref: MedDRA:10050251 {source="ORDO:160/e", source="Orphanet:160"} -xref: MESH:C536362 {source="ORDO:160/e", source="Orphanet:160"} -xref: MESH:D005871 {source="ORDO:160/e", source="Orphanet:160"} +xref: MedDRA:10050251 {source="Orphanet:160", source="Orphanet:160/e"} +xref: MESH:C536362 {source="Orphanet:160", source="Orphanet:160/e"} +xref: MESH:D005871 {source="Orphanet:160", source="Orphanet:160/e"} xref: NCIT:C3056 {source="MONDO:equivalentTo", source="DOID:0111157"} -xref: OMIM:148000 {source="MONDO:relatedTo", source="ORDO:160/btnt", source="Orphanet:160", source="MONDO:superClassOf"} +xref: OMIM:148000 {source="MONDO:relatedTo", source="Orphanet:160", source="MONDO:superClassOf", source="Orphanet:160/btnt"} xref: Orphanet:160 {source="MONDO:equivalentTo", source="DOID:0111157"} xref: SCTID:207036003 {source="MONDO:equivalentTo", source="DOID:0111157"} xref: SCTID:238809002 {source="DOID:0111157"} xref: SCTID:367497006 {source="DOID:0111157"} xref: SCTID:69484003 {source="DOID:0111157"} -xref: UMLS:C0017531 {source="GARD:0000673", source="ORDO:160/e", source="MONDO:equivalentTo", source="Orphanet:160", source="NCIT:C3056", source="DOID:0111157"} -xref: UMLS:C2931179 {source="ORDO:160/e", source="MONDO:equivalentTo", source="Orphanet:160", source="DOID:0111157"} +xref: UMLS:C0017531 {source="GARD:0000673", source="MONDO:equivalentTo", source="Orphanet:160", source="NCIT:C3056", source="DOID:0111157", source="Orphanet:160/e"} +xref: UMLS:C2931179 {source="MONDO:equivalentTo", source="Orphanet:160", source="DOID:0111157", source="Orphanet:160/e"} xref: UMLS:CN199886 {source="MONDO:equivalentTo"} is_a: MONDO:0015157 {source="Orphanet:160"} ! human herpesvirus 8-related tumor is_a: MONDO:0015757 {source="Orphanet:160"} ! lymphoid hemopathy @@ -308449,7 +308290,7 @@ synonym: "Cap inflammatory polyposis" EXACT [Orphanet:160148] synonym: "eroded polypoid hyperplasia" EXACT [Orphanet:160148] synonym: "inflammatory myoglandular polyps" EXACT [Orphanet:160148] synonym: "polypoid prolapsing folds" EXACT [Orphanet:160148] -xref: ICD10CM:D12.6 {source="ORDO:160148/ntbt", source="Orphanet:160148"} +xref: ICD10CM:D12.6 {source="Orphanet:160148/ntbt", source="Orphanet:160148"} xref: Orphanet:160148 {source="MONDO:equivalentTo"} xref: SCTID:720604008 {source="MONDO:equivalentTo"} xref: UMLS:C4303971 {source="MONDO:equivalentTo"} @@ -308467,11 +308308,11 @@ synonym: "Del(2)(q24)" EXACT [Orphanet:1617] synonym: "deletion 2q24" RELATED [GARD:0003746] synonym: "monosomy 2q24" EXACT [Orphanet:1617] xref: GARD:0003746 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="Orphanet:1617", source="ORDO:1617/attributed", source="ORDO:1617/ntbt"} -xref: MESH:C538316 {source="MONDO:equivalentTo", source="Orphanet:1617", source="ORDO:1617/e"} +xref: ICD10CM:Q93.5 {source="Orphanet:1617/attributed", source="Orphanet:1617/ntbt", source="Orphanet:1617"} +xref: MESH:C538316 {source="Orphanet:1617/e", source="MONDO:equivalentTo", source="Orphanet:1617"} xref: Orphanet:1617 {source="MONDO:equivalentTo"} xref: SCTID:719658006 {source="MONDO:equivalentTo"} -xref: UMLS:C2931816 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1617", source="ORDO:1617/e"} +xref: UMLS:C2931816 {source="Orphanet:1617/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1617"} xref: UMLS:CN036809 {source="MONDO:equivalentTo"} is_a: MONDO:0016901 {source="Orphanet:1617"} ! partial deletion of the long arm of chromosome 2 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -308488,7 +308329,7 @@ subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:162"} synonym: "cataract - glaucoma" EXACT [MONDO:0022676] xref: GARD:0001160 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q12.0 {source="ORDO:162/attributed", source="ORDO:162/ntbt", source="Orphanet:162"} +xref: ICD10CM:Q12.0 {source="Orphanet:162", source="Orphanet:162/attributed", source="Orphanet:162/ntbt"} xref: Orphanet:162 {source="MONDO:equivalentTo"} xref: SCTID:718851007 {source="MONDO:equivalentTo"} xref: UMLS:CN199931 {source="MONDO:equivalentTo"} @@ -308503,7 +308344,7 @@ name: isolated congenital nasal pyriform aperture stenosis subset: ordo_malformation_syndrome {source="Orphanet:162516"} synonym: "isolated apertura pyriformis stenosis" EXACT [Orphanet:162516] synonym: "isolated nasal pyriform aperture hypoplasia" EXACT [Orphanet:162516] -xref: ICD10CM:Q30.8 {source="ORDO:162516/ntbt", source="Orphanet:162516"} +xref: ICD10CM:Q30.8 {source="Orphanet:162516/ntbt", source="Orphanet:162516"} xref: Orphanet:162516 {source="MONDO:equivalentTo"} is_a: MONDO:0015503 {source="Orphanet:162516"} ! nose and cavum anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -308514,7 +308355,7 @@ id: MONDO:0015569 name: congenital nasal pyriform aperture stenosis with holoprosencephaly subset: ordo_malformation_syndrome {source="Orphanet:162521"} synonym: "apertura pyriformis with holoprosencephaly" EXACT [Orphanet:162521] -xref: ICD10CM:Q30.8 {source="ORDO:162521/ntbt", source="Orphanet:162521"} +xref: ICD10CM:Q30.8 {source="Orphanet:162521", source="Orphanet:162521/ntbt"} xref: Orphanet:162521 {source="MONDO:equivalentTo"} is_a: MONDO:0015503 {source="Orphanet:162521"} ! nose and cavum anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -308526,7 +308367,7 @@ name: isolated congenital auditory ossicle malformation def: "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." [Orphanet:162526] subset: ordo_morphological_anomaly {source="Orphanet:162526"} synonym: "congenital auditory ossicle malformation without external ear abnormality" EXACT [Orphanet:162526] -xref: ICD10CM:Q16.3 {source="ORDO:162526/e", source="Orphanet:162526"} +xref: ICD10CM:Q16.3 {source="Orphanet:162526/e", source="Orphanet:162526"} xref: Orphanet:162526 {source="MONDO:equivalentTo"} is_a: MONDO:0015604 {source="Orphanet:162526"} ! middle ear anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -308543,7 +308384,7 @@ synonym: "deletion type 5q35" EXACT [MONDORULE:7, Orphanet:1627] synonym: "distal 5q deletion" EXACT [Orphanet:1627] synonym: "monosomy 5q35" EXACT [Orphanet:1627] synonym: "telomeric deletion 5q" EXACT [Orphanet:1627] -xref: ICD10CM:Q93.5 {source="ORDO:1627/attributed", source="ORDO:1627/ntbt", source="Orphanet:1627"} +xref: ICD10CM:Q93.5 {source="Orphanet:1627/attributed", source="Orphanet:1627/ntbt", source="Orphanet:1627"} xref: MESH:C537647 {source="MONDO:equivalentTo"} xref: Orphanet:1627 {source="MONDO:equivalentTo"} xref: SCTID:721158009 {source="MONDO:equivalentTo"} @@ -308559,7 +308400,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:163209"} synonym: "brain malformation due to abnormal neuronal migration" EXACT [Orphanet:163209] synonym: "non-syndromic cerebral malformation due to abnormal neuronal migration" RELATED [Orphanet:163209] -xref: ICD10CM:Q04.8 {source="ORDO:163209/attributed", source="ORDO:163209/ntbt", source="Orphanet:163209"} +xref: ICD10CM:Q04.8 {source="Orphanet:163209/attributed", source="Orphanet:163209/ntbt", source="Orphanet:163209"} xref: Orphanet:163209 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -308571,12 +308412,12 @@ id: MONDO:0015573 name: subacute cutaneous lupus erythematosus def: "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." [Orphanet:163525] subset: ordo_disease {source="Orphanet:163525"} -xref: ICD10CM:L93.1 {source="MONDO:equivalentTo", source="ORDO:163525/e", source="Orphanet:163525"} -xref: MedDRA:10057903 {source="ORDO:163525/e", source="Orphanet:163525"} +xref: ICD10CM:L93.1 {source="Orphanet:163525/e", source="MONDO:equivalentTo", source="Orphanet:163525"} +xref: MedDRA:10057903 {source="Orphanet:163525/e", source="Orphanet:163525"} xref: NCIT:C117111 {source="MONDO:equivalentTo"} xref: Orphanet:163525 {source="MONDO:equivalentTo"} xref: SCTID:239891002 {source="MONDO:equivalentTo"} -xref: UMLS:C0024140 {source="NCIT:C117111", source="MONDO:equivalentTo", source="ORDO:163525/e", source="Orphanet:163525"} +xref: UMLS:C0024140 {source="NCIT:C117111", source="Orphanet:163525/e", source="MONDO:equivalentTo", source="Orphanet:163525"} is_a: MONDO:0005282 {source="MONDO:Redundant", source="NCIT:C117111", source="Orphanet:163525", source="indirect", source="linkedlifedata"} ! cutaneous lupus erythematosus relationship: has_modifier MONDO:0021136 {source="MONDO:0018887"} ! rare @@ -308587,9 +308428,9 @@ def: "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163531"} synonym: "cutaneous lupus erythematosus, chronic" EXACT [MONDO:patterns/chronic] -xref: ICD10CM:L93.0 {source="ORDO:163531/ntbt", source="Orphanet:163531", source="MONDO:superClassOf"} -xref: ICD10CM:L93.2 {source="ORDO:163531/ntbt", source="Orphanet:163531"} -xref: MedDRA:10057929 {source="Orphanet:163531", source="ORDO:163531/e"} +xref: ICD10CM:L93.0 {source="Orphanet:163531", source="MONDO:superClassOf", source="Orphanet:163531/ntbt"} +xref: ICD10CM:L93.2 {source="Orphanet:163531", source="Orphanet:163531/ntbt"} +xref: MedDRA:10057929 {source="Orphanet:163531", source="Orphanet:163531/e"} xref: Orphanet:163531 {source="MONDO:equivalentTo"} xref: UMLS:CN226705 {source="MONDO:equivalentTo"} is_a: MONDO:0005282 {source="Orphanet:163531"} ! cutaneous lupus erythematosus @@ -308668,9 +308509,9 @@ synonym: "Alpha-thalassemia hydrops fetalis" EXACT [Orphanet:163596] synonym: "Alpha-thalassemia major" EXACT [Orphanet:163596] synonym: "Hemoglobin Bart's hydrops fetalis" EXACT [Orphanet:163596] synonym: "homozygous alpha0-thalassemia" EXACT [Orphanet:163596] -xref: ICD10CM:D56.0 {source="MONDO:subClassOf", source="ORDO:163596/attributed", source="ORDO:163596/ntbt", source="Orphanet:163596"} +xref: ICD10CM:D56.0 {source="MONDO:subClassOf", source="Orphanet:163596", source="Orphanet:163596/attributed", source="Orphanet:163596/ntbt"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:236750 {source="MONDO:subClassOf", source="ORDO:163596/ntbt", source="Orphanet:163596"} +xref: OMIM:236750 {source="MONDO:subClassOf", source="Orphanet:163596", source="Orphanet:163596/ntbt"} xref: Orphanet:163596 {source="MONDO:equivalentTo"} xref: SCTID:5300004 {source="MONDO:equivalentTo"} is_a: MONDO:0009369 ! non-immune hydrops fetalis @@ -308686,7 +308527,7 @@ synonym: "distal deletion 7q36" EXACT [Orphanet:1636] synonym: "distal monosomy type 7q36" EXACT [MONDORULE:7, Orphanet:1636] synonym: "monosomy 7qter" EXACT [Orphanet:1636] synonym: "telomeric deletion 7q36" EXACT [Orphanet:1636] -xref: ICD10CM:Q93.5 {source="ORDO:1636/attributed", source="ORDO:1636/ntbt", source="Orphanet:1636"} +xref: ICD10CM:Q93.5 {source="Orphanet:1636/attributed", source="Orphanet:1636/ntbt", source="Orphanet:1636"} xref: Orphanet:1636 {source="MONDO:equivalentTo"} xref: SCTID:763529005 {source="MONDO:equivalentTo"} is_a: MONDO:0016906 {source="Orphanet:1636"} ! partial deletion of the long arm of chromosome 7 @@ -308699,7 +308540,7 @@ id: MONDO:0015581 name: obsolete bile acid synthesis defect with cholestasis and malabsorption comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of bile acid synthesis' subset: ordo_group_of_disorders {source="Orphanet:163631"} -xref: ICD10CM:K76.8 {source="ORDO:163631/attributed", source="ORDO:163631/ntbt", source="Orphanet:163631"} +xref: ICD10CM:K76.8 {source="Orphanet:163631", source="Orphanet:163631/attributed", source="Orphanet:163631/ntbt"} xref: Orphanet:163631 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -308728,8 +308569,8 @@ subset: ordo_disease {source="Orphanet:163693"} synonym: "2p21 deletion syndrome" EXACT [Orphanet:163693] synonym: "Del(2)(p21)" EXACT [Orphanet:163693] synonym: "monosomy 2p21" EXACT [Orphanet:163693] -xref: ICD10CM:Q93.5 {source="Orphanet:163693", source="ORDO:163693/attributed", source="ORDO:163693/ntbt"} -xref: OMIM:606407 {source="MONDO:subClassOf", source="Orphanet:163693", source="ORDO:163693/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:163693/attributed", source="Orphanet:163693/ntbt", source="Orphanet:163693"} +xref: OMIM:606407 {source="MONDO:subClassOf", source="Orphanet:163693/ntbt", source="Orphanet:163693"} xref: Orphanet:163693 {source="MONDO:equivalentTo"} xref: SCTID:719652007 {source="MONDO:equivalentTo"} xref: UMLS:C4304537 {source="MONDO:equivalentTo"} @@ -308759,7 +308600,7 @@ synonym: "idiopathic catastrophic epileptic encephalopathy" EXACT [Orphanet:1637 synonym: "severe refractory status epilepticus owing to presumed encephalitis" EXACT [Orphanet:163703] synonym: "status epilepticus owing to presumed encephalitis" RELATED [GARD:0011005] xref: GARD:0011005 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.5 {source="ORDO:163703/ntbt", source="Orphanet:163703"} +xref: ICD10CM:G40.5 {source="Orphanet:163703/ntbt", source="Orphanet:163703"} xref: Orphanet:163703 {source="MONDO:equivalentTo"} xref: SCTID:725413002 {source="MONDO:equivalentTo"} xref: UMLS:CN199955 {source="MONDO:equivalentTo"} @@ -308781,9 +308622,9 @@ name: benign familial mesial temporal lobe epilepsy def: "Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." [Orphanet:163717] subset: ordo_disease {source="Orphanet:163717"} synonym: "benign FMTLE" EXACT [Orphanet:163717] -xref: OMIM:611630 {source="Orphanet:163717", source="MONDO:superClassOf", source="ORDO:163717/btnt"} -xref: OMIM:614417 {source="Orphanet:163717", source="MONDO:superClassOf", source="ORDO:163717/btnt"} -xref: OMIM:615697 {source="Orphanet:163717", source="MONDO:superClassOf", source="ORDO:163717/btnt"} +xref: OMIM:611630 {source="Orphanet:163717", source="Orphanet:163717/btnt", source="MONDO:superClassOf"} +xref: OMIM:614417 {source="Orphanet:163717", source="Orphanet:163717/btnt", source="MONDO:superClassOf"} +xref: OMIM:615697 {source="Orphanet:163717", source="Orphanet:163717/btnt", source="MONDO:superClassOf"} xref: Orphanet:163717 {source="MONDO:equivalentTo"} xref: UMLS:CN226709 {source="MONDO:equivalentTo"} is_a: MONDO:0017704 {source="Orphanet:163717"} ! familial partial epilepsy @@ -308794,8 +308635,8 @@ id: MONDO:0015587 name: rolandic epilepsy-speech dyspraxia syndrome def: "Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed." [Orphanet:163721] subset: ordo_disease {source="Orphanet:163721"} -xref: OMIM:245570 {source="MONDO:subClassOf", source="ORDO:163721/ntbt", source="Orphanet:163721"} -xref: OMIM:300643 {source="ORDO:163721/btnt", source="MONDO:superClassOf", source="Orphanet:163721"} +xref: OMIM:245570 {source="MONDO:subClassOf", source="Orphanet:163721/ntbt", source="Orphanet:163721"} +xref: OMIM:300643 {source="MONDO:superClassOf", source="Orphanet:163721/btnt", source="Orphanet:163721"} xref: Orphanet:163721 {source="MONDO:equivalentTo"} xref: UMLS:CN199957 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="Orphanet:163721"} ! childhood-onset epilepsy syndrome @@ -308811,10 +308652,10 @@ subset: gard_rare {source="GARD:0008742"} subset: ordo_group_of_disorders {source="Orphanet:163892"} xref: GARD:0008742 {source="MONDO:equivalentTo"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D020363 {source="Orphanet:163892", source="ORDO:163892/e", source="MONDO:equivalentTo"} +xref: MESH:D020363 {source="Orphanet:163892", source="MONDO:equivalentTo", source="Orphanet:163892/e"} xref: Orphanet:163892 {source="MONDO:equivalentTo"} xref: SCTID:230192003 {source="MONDO:equivalentTo"} -xref: UMLS:C0338430 {source="Orphanet:163892", source="ORDO:163892/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0338430 {source="Orphanet:163892", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:163892/e"} is_a: MONDO:0019956 {source="MESH:D020363", source="Orphanet:163892", source="linkedlifedata"} ! encephalitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis xsd:anyURI {source="GARD:0008742"} @@ -308825,7 +308666,7 @@ def: "A rare disorder characterized by degenerative changes in the limbic area o subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163895"} synonym: "limbic encephalitis" EXACT [NCIT:C4350] -xref: ICD10CM:G13.1 {source="ORDO:163895/ntbt", source="Orphanet:163895"} +xref: ICD10CM:G13.1 {source="Orphanet:163895", source="Orphanet:163895/ntbt"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C4350 {source="MONDO:cjm note the NCIT class is implicitly paraneoplastic", source="MONDO:equivalentTo"} xref: Orphanet:163895 {source="MONDO:equivalentTo"} @@ -308843,7 +308684,7 @@ name: classic paraneoplastic limbic encephalitis def: "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." [Orphanet:163898] subset: ordo_disease {source="Orphanet:163898"} synonym: "classic paraneoplastic limbic encephalitis, with or without intracellular antigens" EXACT [Orphanet:163898] -xref: ICD10CM:G13.1 {source="ORDO:163898/ntbt", source="Orphanet:163898"} +xref: ICD10CM:G13.1 {source="Orphanet:163898", source="Orphanet:163898/ntbt"} xref: Orphanet:163898 {source="MONDO:equivalentTo"} is_a: MONDO:0015589 {source="Orphanet:163898"} ! paraneoplastic limbic encephalitis @@ -308852,7 +308693,7 @@ id: MONDO:0015591 name: limbic encephalitis associated with antibodies to cell membrane antigens subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163903"} -xref: ICD10CM:G13.1 {source="Orphanet:163903", source="ORDO:163903/ntbt"} +xref: ICD10CM:G13.1 {source="Orphanet:163903", source="Orphanet:163903/ntbt"} xref: Orphanet:163903 {source="MONDO:equivalentTo"} is_a: MONDO:0015589 {source="Orphanet:163903"} ! paraneoplastic limbic encephalitis @@ -308862,8 +308703,8 @@ name: limbic encephalitis with LGI1 antibodies def: "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported." [Orphanet:163908] subset: ordo_disease {source="Orphanet:163908"} synonym: "limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" EXACT [Orphanet:163908] -xref: ICD10CM:G04.8 {source="Orphanet:163908", source="ORDO:163908/ntbt"} -xref: ICD10CM:G13.1 {source="Orphanet:163908", source="ORDO:163908/ntbt"} +xref: ICD10CM:G04.8 {source="Orphanet:163908/ntbt", source="Orphanet:163908"} +xref: ICD10CM:G13.1 {source="Orphanet:163908/ntbt", source="Orphanet:163908"} xref: Orphanet:163908 {source="MONDO:equivalentTo"} xref: SCTID:763794005 {source="MONDO:equivalentTo"} is_a: MONDO:0015591 {source="Orphanet:163908"} ! limbic encephalitis associated with antibodies to cell membrane antigens @@ -308875,7 +308716,7 @@ id: MONDO:0015593 name: limbic encephalitis with nCMAgs antibodies subset: ordo_disease {source="Orphanet:163914"} synonym: "limbic encephalitis with novel cell membrane antigen antibodies" EXACT [Orphanet:163914] -xref: ICD10CM:G13.1 {source="Orphanet:163914", source="ORDO:163914/ntbt"} +xref: ICD10CM:G13.1 {source="Orphanet:163914", source="Orphanet:163914/ntbt"} xref: Orphanet:163914 {source="MONDO:equivalentTo"} is_a: MONDO:0015591 {source="Orphanet:163914"} ! limbic encephalitis associated with antibodies to cell membrane antigens @@ -308893,7 +308734,7 @@ name: posttransplant acute limbic encephalitis def: "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." [Orphanet:163921] subset: ordo_clinical_situation {source="Orphanet:163921"} synonym: "pale" EXACT [Orphanet:163921] -xref: ICD10CM:A86 {source="ORDO:163921/ntbt", source="Orphanet:163921"} +xref: ICD10CM:A86 {source="Orphanet:163921/ntbt", source="Orphanet:163921"} xref: Orphanet:163921 {source="MONDO:equivalentTo"} is_a: MONDO:0015594 {source="Orphanet:163921"} ! non-paraneoplastic limbic encephalitis @@ -308902,7 +308743,7 @@ id: MONDO:0015596 name: non-herpetic acute limbic encephalitis def: "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." [Orphanet:163924] subset: ordo_disease {source="Orphanet:163924"} -xref: ICD10CM:G04.8 {source="ORDO:163924/ntbt", source="Orphanet:163924"} +xref: ICD10CM:G04.8 {source="Orphanet:163924/ntbt", source="Orphanet:163924"} xref: Orphanet:163924 {source="MONDO:equivalentTo"} xref: SCTID:764998005 {source="MONDO:equivalentTo"} is_a: MONDO:0015594 {source="Orphanet:163924"} ! non-paraneoplastic limbic encephalitis @@ -308920,16 +308761,16 @@ synonym: "pustular psoriasis of the palms and/or soles" EXACT [DOID:4398] synonym: "pustulosis of palm and sole" EXACT [MONDO:0002985] xref: DOID:4398 {source="MONDO:equivalentTo"} xref: GARD:0012820 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L40.3 {source="DOID:4398", source="ORDO:163927/e", source="Orphanet:163927", source="ORDO:163927/specific", source="MONDO:equivalentTo"} +xref: ICD10CM:L40.3 {source="DOID:4398", source="Orphanet:163927", source="MONDO:equivalentTo", source="Orphanet:163927/e", source="Orphanet:163927/specific"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050185 {source="ORDO:163927/e", source="Orphanet:163927"} +xref: MedDRA:10050185 {source="Orphanet:163927", source="Orphanet:163927/e"} xref: MESH:D011565 {source="DOID:4398", source="MONDO:relatedTo"} xref: NCIT:C34888 {source="DOID:4398", source="MONDO:equivalentTo"} xref: Orphanet:163927 {source="MONDO:equivalentTo"} xref: SCTID:238610005 {source="DOID:4398"} xref: SCTID:27520001 {source="DOID:4398", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:81271001 {source="MONDO:equivalentTo"} -xref: UMLS:C0030246 {source="DOID:4398", source="ORDO:163927/e", source="Orphanet:163927", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C34888"} +xref: UMLS:C0030246 {source="DOID:4398", source="Orphanet:163927", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:163927/e", source="NCIT:C34888"} is_a: MONDO:0002406 {source="DOID:4398", source="NCIT:C34888"} ! dermatitis is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease @@ -308946,12 +308787,12 @@ id: MONDO:0015599 name: atopic keratoconjunctivitis def: "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." [Orphanet:163934] subset: ordo_disease {source="Orphanet:163934"} -xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="ORDO:163934/ntbt", source="Orphanet:163934"} +xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:163934/ntbt", source="Orphanet:163934"} xref: ICD9:370.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069664 {source="ORDO:163934/e", source="Orphanet:163934"} +xref: MedDRA:10069664 {source="Orphanet:163934/e", source="Orphanet:163934"} xref: Orphanet:163934 {source="MONDO:equivalentTo"} xref: SCTID:403434009 {source="MONDO:equivalentTo"} -xref: UMLS:C1274788 {source="MONDO:equivalentTo", source="ORDO:163934/e", source="Orphanet:163934"} +xref: UMLS:C1274788 {source="Orphanet:163934/e", source="MONDO:equivalentTo", source="Orphanet:163934"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder [Term] @@ -308960,7 +308801,7 @@ name: X-linked intellectual disability, Cilliers type def: "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." [Orphanet:163971] subset: ordo_disease {source="Orphanet:163971"} synonym: "X-linked intellectual disability-microcephaly-testicular failure syndrome" EXACT [Orphanet:163971] -xref: ICD10CM:Q87.8 {source="ORDO:163971/attributed", source="ORDO:163971/ntbt", source="Orphanet:163971"} +xref: ICD10CM:Q87.8 {source="Orphanet:163971", source="Orphanet:163971/attributed", source="Orphanet:163971/ntbt"} xref: Orphanet:163971 {source="MONDO:equivalentTo"} xref: SCTID:719013004 {source="MONDO:equivalentTo"} xref: UMLS:CN226710 {source="MONDO:equivalentTo"} @@ -308976,7 +308817,7 @@ synonym: "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type" EXA synonym: "Van Esch-O'Driscoll syndrome" EXACT [OMIM:301030] synonym: "Van Esch-O'Driscoll syndrome, X-linked recessive" EXACT [OMIM:301030, OMIM:genemap2] synonym: "VEODS" EXACT ABBREVIATION [OMIM:301030] -xref: ICD10CM:Q87.8 {source="ORDO:163976/attributed", source="ORDO:163976/ntbt", source="Orphanet:163976"} +xref: ICD10CM:Q87.8 {source="Orphanet:163976/attributed", source="Orphanet:163976/ntbt", source="Orphanet:163976"} xref: OMIM:301030 {source="MONDO:equivalentTo"} xref: Orphanet:163976 {source="OMIM:301030", source="MONDO:equivalentTo"} xref: SCTID:718914002 {source="MONDO:equivalentTo"} @@ -309014,11 +308855,11 @@ id: MONDO:0015604 name: middle ear anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:164004"} -xref: ICD10CM:Q16.3 {source="ORDO:164004/btnt", source="Orphanet:164004"} -xref: ICD10CM:Q16.4 {source="ORDO:164004/btnt", source="Orphanet:164004"} -xref: MedDRA:10060957 {source="Orphanet:164004", source="ORDO:164004/e"} +xref: ICD10CM:Q16.3 {source="Orphanet:164004", source="Orphanet:164004/btnt"} +xref: ICD10CM:Q16.4 {source="Orphanet:164004", source="Orphanet:164004/btnt"} +xref: MedDRA:10060957 {source="Orphanet:164004", source="Orphanet:164004/e"} xref: Orphanet:164004 {source="MONDO:equivalentTo"} -xref: UMLS:C0266599 {source="Orphanet:164004", source="MONDO:notFoundInDiseaseSubset", source="ORDO:164004/e"} +xref: UMLS:C0266599 {source="Orphanet:164004", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:164004/e"} is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease @@ -309031,7 +308872,7 @@ synonym: "distal deletion 9p" EXACT [Orphanet:1642] synonym: "distal monosomy type 9p" EXACT [MONDORULE:4, Orphanet:1642] synonym: "monosomy 9pter" EXACT [Orphanet:1642] synonym: "telomeric deletion 9p" EXACT [Orphanet:1642] -xref: ICD10CM:Q93.5 {source="Orphanet:1642", source="ORDO:1642/attributed", source="ORDO:1642/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:1642/attributed", source="Orphanet:1642/ntbt", source="Orphanet:1642"} xref: MESH:C538025 {source="MONDO:equivalentTo"} xref: Orphanet:1642 {source="MONDO:equivalentTo"} xref: SCTID:763530000 {source="MONDO:equivalentTo"} @@ -309054,7 +308895,7 @@ subset: gard_rare {source="GARD:0013170"} subset: ordo_malformation_syndrome {source="Orphanet:1643"} synonym: "Del(X)(p23)" EXACT [Orphanet:1643] xref: GARD:0013170 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="ORDO:1643/attributed", source="ORDO:1643/ntbt", source="Orphanet:1643"} +xref: ICD10CM:Q99.8 {source="Orphanet:1643", source="Orphanet:1643/attributed", source="Orphanet:1643/ntbt"} xref: Orphanet:1643 {source="MONDO:equivalentTo"} xref: SCTID:726733007 {source="MONDO:equivalentTo"} xref: UMLS:CN199978 {source="MONDO:equivalentTo"} @@ -309078,13 +308919,13 @@ synonym: "partial deletion of Y chromosome short arm" RELATED [GARD:0004230] synonym: "Y-chromosome microdeletions" RELATED [GARD:0004230] xref: GARD:0004230 {source="MONDO:equivalentTo"} xref: HGNC:11311 {source="GARD:0004230"} -xref: ICD10CM:Q98.6 {source="ORDO:1646/attributed", source="ORDO:1646/ntbt", source="Orphanet:1646"} -xref: MESH:C536297 {source="MONDO:equivalentTo", source="Orphanet:1646", source="ORDO:1646/e"} -xref: OMIM:400042 {source="ORDO:1646/btnt", source="MONDO:superClassOf", source="Orphanet:1646"} -xref: OMIM:415000 {source="ORDO:1646/btnt", source="MONDO:superClassOf", source="Orphanet:1646"} +xref: ICD10CM:Q98.6 {source="Orphanet:1646", source="Orphanet:1646/attributed", source="Orphanet:1646/ntbt"} +xref: MESH:C536297 {source="MONDO:equivalentTo", source="Orphanet:1646", source="Orphanet:1646/e"} +xref: OMIM:400042 {source="MONDO:superClassOf", source="Orphanet:1646", source="Orphanet:1646/btnt"} +xref: OMIM:415000 {source="MONDO:superClassOf", source="Orphanet:1646", source="Orphanet:1646/btnt"} xref: Orphanet:1646 {source="MONDO:equivalentTo"} xref: SCTID:717158001 {source="MONDO:equivalentTo"} -xref: UMLS:C1507149 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1646", source="ORDO:1646/e"} +xref: UMLS:C1507149 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1646", source="Orphanet:1646/e"} xref: UMLS:C2931163 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1646"} is_a: MONDO:0005372 ! male infertility intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -309113,10 +308954,10 @@ synonym: "familial advanced sleep-phase syndrome" EXACT [DOID:0050628] synonym: "FASPS" EXACT ABBREVIATION [Orphanet:164736] xref: DOID:0050628 {source="MONDO:equivalentTo"} xref: GARD:0009242 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G47.2 {source="MONDO:relatedTo", source="Orphanet:164736", source="ORDO:164736/attributed", source="ORDO:164736/ntbt"} -xref: OMIM:604348 {source="MONDO:superClassOf", source="Orphanet:164736", source="ORDO:164736/e"} -xref: OMIM:615224 {source="MONDO:superClassOf", source="Orphanet:164736", source="ORDO:164736/btnt"} -xref: OMIM:616882 {source="MONDO:superClassOf", source="Orphanet:164736", source="ORDO:164736/btnt"} +xref: ICD10CM:G47.2 {source="MONDO:relatedTo", source="Orphanet:164736/attributed", source="Orphanet:164736/ntbt", source="Orphanet:164736"} +xref: OMIM:604348 {source="Orphanet:164736/e", source="MONDO:superClassOf", source="Orphanet:164736"} +xref: OMIM:615224 {source="MONDO:superClassOf", source="Orphanet:164736/btnt", source="Orphanet:164736"} +xref: OMIM:616882 {source="MONDO:superClassOf", source="Orphanet:164736/btnt", source="Orphanet:164736"} xref: OMIMPS:604348 {source="MONDO:equivalentTo", source="DOID:0050628"} xref: Orphanet:164736 {source="MONDO:equivalentTo", source="DOID:0050628"} xref: SCTID:715829003 {source="MONDO:equivalentTo"} @@ -309136,8 +308977,8 @@ subset: ordo_group_of_disorders {source="Orphanet:164823"} synonym: "acquired aplastic anemia" EXACT [MONDO:patterns/acquired] synonym: "rare acquired aplastic anemia" RELATED [Orphanet:164823] xref: EFO:0006926 {source="MONDO:equivalentTo"} -xref: ICD10CM:D61.1 {source="ORDO:164823/btnt", source="Orphanet:164823"} -xref: ICD10CM:D61.2 {source="ORDO:164823/btnt", source="Orphanet:164823"} +xref: ICD10CM:D61.1 {source="Orphanet:164823/btnt", source="Orphanet:164823"} +xref: ICD10CM:D61.2 {source="Orphanet:164823/btnt", source="Orphanet:164823"} xref: Orphanet:164823 {source="MONDO:equivalentTo"} xref: SCTID:55907008 {source="MONDO:equivalentTo"} xref: UMLS:C0271907 {source="MONDO:equivalentTo"} @@ -309157,10 +308998,10 @@ synonym: "lipidosis with triglycerid storage disease" RELATED [GARD:0003262] synonym: "lipidosis with triglyceride storage disease" EXACT [Orphanet:165] xref: DOID:0050729 {source="MONDO:equivalentTo"} xref: GARD:0003262 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.5 {source="ORDO:165/attributed", source="ORDO:165/ntbt", source="Orphanet:165"} -xref: MESH:C536560 {source="ORDO:165/e", source="Orphanet:165"} +xref: ICD10CM:E75.5 {source="Orphanet:165/attributed", source="Orphanet:165/ntbt", source="Orphanet:165"} +xref: MESH:C536560 {source="Orphanet:165/e", source="Orphanet:165"} xref: Orphanet:165 {source="MONDO:equivalentTo"} -xref: UMLS:C0268238 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:165/e", source="Orphanet:165"} +xref: UMLS:C0268238 {source="Orphanet:165/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:165"} xref: UMLS:CN199983 {source="MONDO:equivalentTo"} is_a: MONDO:0016117 {source="Orphanet:165"} ! muscular lipidosis is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -309183,23 +309024,23 @@ synonym: "X-linked recessive hypophosphatemic rickets" EXACT [NCIT:C123260] synonym: "X-linked recessive nephrolithiasis" EXACT [Orphanet:1652] xref: DOID:0050699 {source="MONDO:equivalentTo"} xref: GARD:0013105 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N25.8 {source="Orphanet:1652", source="ORDO:1652/attributed", source="ORDO:1652/ntbt"} -xref: MedDRA:10069199 {source="ORDO:1652/e", source="Orphanet:1652"} +xref: ICD10CM:N25.8 {source="Orphanet:1652/attributed", source="Orphanet:1652/ntbt", source="Orphanet:1652"} +xref: MedDRA:10069199 {source="Orphanet:1652", source="Orphanet:1652/e"} xref: MESH:C538212 {source="DOID:0050699"} -xref: MESH:C545036 {source="ORDO:1652/e", source="Orphanet:1652"} +xref: MESH:C545036 {source="Orphanet:1652", source="Orphanet:1652/e"} xref: MESH:C564487 {source="DOID:0050699"} -xref: MESH:D057973 {source="ORDO:1652/e", source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699"} +xref: MESH:D057973 {source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699", source="Orphanet:1652/e"} xref: NCIT:C123260 {source="MONDO:equivalentTo", source="DOID:0050699"} -xref: OMIM:300009 {source="Orphanet:1652", source="DOID:0050699", source="MONDO:superClassOf", source="ORDO:1652/btnt"} -xref: OMIM:300554 {source="MONDO:relatedTo", source="Orphanet:1652", source="MONDO:superClassOf", source="ORDO:1652/btnt"} -xref: OMIM:300555 {source="Orphanet:1652", source="DOID:0050699", source="MONDO:superClassOf", source="ORDO:1652/btnt"} -xref: OMIM:308990 {source="MONDO:relatedTo", source="Orphanet:1652", source="MONDO:superClassOf", source="ORDO:1652/btnt"} -xref: OMIM:310468 {source="MONDO:relatedTo", source="Orphanet:1652", source="MONDO:superClassOf", source="ORDO:1652/btnt"} +xref: OMIM:300009 {source="Orphanet:1652/btnt", source="Orphanet:1652", source="DOID:0050699", source="MONDO:superClassOf"} +xref: OMIM:300554 {source="Orphanet:1652/btnt", source="MONDO:relatedTo", source="Orphanet:1652", source="MONDO:superClassOf"} +xref: OMIM:300555 {source="Orphanet:1652/btnt", source="Orphanet:1652", source="DOID:0050699", source="MONDO:superClassOf"} +xref: OMIM:308990 {source="Orphanet:1652/btnt", source="MONDO:relatedTo", source="Orphanet:1652", source="MONDO:superClassOf"} +xref: OMIM:310468 {source="Orphanet:1652/btnt", source="MONDO:relatedTo", source="Orphanet:1652", source="MONDO:superClassOf"} xref: OMIMPS:300009 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1652 {source="MONDO:equivalentTo", source="DOID:0050699"} xref: SCTID:444645005 {source="MONDO:equivalentTo", source="DOID:0050699"} -xref: UMLS:C0878681 {source="ORDO:1652/e", source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699"} -xref: UMLS:C1839874 {source="ORDO:1652/e", source="MONDO:relatedTo", source="Orphanet:1652"} +xref: UMLS:C0878681 {source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699", source="Orphanet:1652/e"} +xref: UMLS:C1839874 {source="MONDO:relatedTo", source="Orphanet:1652", source="Orphanet:1652/e"} xref: UMLS:C1845167 {source="DOID:0050699", source="MONDO:superClassOf"} xref: UMLS:C1845168 {source="NCIT:C123260", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1848336 {source="DOID:0050699", source="MONDO:notFoundInDiseaseSubset"} @@ -309219,16 +309060,16 @@ subset: ordo_disease {source="Orphanet:1653"} synonym: "DD" EXACT ABBREVIATION [Orphanet:1653] synonym: "dentinal dysplasia" EXACT [DOID:701] xref: DOID:701 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/ntbt", source="ORDO:1653/inclusion"} +xref: ICD10CM:K00.5 {source="Orphanet:1653/ntbt", source="DOID:701", source="Orphanet:1653/inclusion", source="Orphanet:1653"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D003805 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/e", source="MONDO:equivalentTo"} -xref: OMIM:125400 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/btnt", source="MONDO:superClassOf"} -xref: OMIM:125420 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/btnt", source="MONDO:superClassOf"} +xref: MESH:D003805 {source="DOID:701", source="Orphanet:1653", source="MONDO:equivalentTo", source="Orphanet:1653/e"} +xref: OMIM:125400 {source="Orphanet:1653/btnt", source="DOID:701", source="Orphanet:1653", source="MONDO:superClassOf"} +xref: OMIM:125420 {source="Orphanet:1653/btnt", source="DOID:701", source="Orphanet:1653", source="MONDO:superClassOf"} xref: Orphanet:1635 {source="DOID:701"} xref: Orphanet:1653 {source="MONDO:equivalentTo"} xref: SCTID:109492001 {source="DOID:701", source="MONDO:equivalentTo"} xref: SCTID:45742009 {source="DOID:701"} -xref: UMLS:C0011430 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0011430 {source="DOID:701", source="Orphanet:1653", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1653/e"} is_a: MONDO:0002220 {source="DOID:701", source="linkedlifedata"} ! tooth hard tissue disease is_a: MONDO:0015668 {source="Orphanet:1653"} ! hereditary dentin defect @@ -309243,17 +309084,17 @@ synonym: "Duhring's disease" EXACT [DOID:8505] synonym: "Durhing-Brocq disease" EXACT [Orphanet:1656] xref: DOID:8505 {source="MONDO:equivalentTo", source="EFO:1000684"} xref: EFO:1000684 {source="MONDO:equivalentTo"} -xref: ICD10CM:L13.0 {source="DOID:8505", source="MONDO:equivalentTo", source="ORDO:1656/e", source="Orphanet:1656"} +xref: ICD10CM:L13.0 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"} xref: ICD9:694.0 {source="DOID:8505", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10012468 {source="ORDO:1656/e", source="Orphanet:1656"} -xref: MESH:D003874 {source="DOID:8505", source="MONDO:equivalentTo", source="ORDO:1656/e", source="Orphanet:1656"} +xref: MedDRA:10012468 {source="Orphanet:1656", source="Orphanet:1656/e"} +xref: MESH:D003874 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"} xref: NCIT:C26742 {source="DOID:8505", source="MONDO:equivalentTo"} -xref: OMIM:601230 {source="ORDO:1656/btnt", source="MONDO:superClassOf", source="Orphanet:1656"} +xref: OMIM:601230 {source="MONDO:superClassOf", source="Orphanet:1656", source="Orphanet:1656/btnt"} xref: Orphanet:1656 {source="MONDO:equivalentTo"} xref: SCTID:111196000 {source="DOID:8505", source="MONDO:equivalentTo"} xref: SCTID:156354007 {source="DOID:8505"} xref: SCTID:200899006 {source="DOID:8505"} -xref: UMLS:C0011608 {source="DOID:8505", source="MONDO:equivalentTo", source="NCIT:C26742", source="ORDO:1656/e", source="Orphanet:1656"} +xref: UMLS:C0011608 {source="DOID:8505", source="MONDO:equivalentTo", source="NCIT:C26742", source="Orphanet:1656", source="Orphanet:1656/e"} xref: Wikipedia:Dermatitis_herpetiformis {source="EFO:1000684"} is_a: MONDO:0002406 {source="DOID:8505/inferred", source="MESH:D003874", source="MONDO:Redundant", source="NCIT:C26742", source="indirect"} ! dermatitis is_a: MONDO:0019337 {source="DOID:8505", source="EFO:1000684", source="Orphanet:1656"} ! autoimmune bullous skin disease @@ -309353,11 +309194,11 @@ id: MONDO:0015622 name: wound myiasis subset: ordo_disease {source="Orphanet:165955"} synonym: "traumatic myiasis" EXACT [Orphanet:165955] -xref: ICD10CM:B87.1 {source="ORDO:165955/ntbt", source="MONDO:equivalentTo", source="Orphanet:165955"} +xref: ICD10CM:B87.1 {source="MONDO:equivalentTo", source="Orphanet:165955", source="Orphanet:165955/ntbt"} xref: ICD9:998.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:165955 {source="MONDO:equivalentTo"} xref: SCTID:240880004 {source="MONDO:equivalentTo"} -xref: UMLS:C0344061 {source="MONDO:equivalentTo", source="Orphanet:165955", source="ORDO:165955/e"} +xref: UMLS:C0344061 {source="Orphanet:165955/e", source="MONDO:equivalentTo", source="Orphanet:165955"} is_a: MONDO:0020568 {source="Orphanet:165955"} ! cutaneous myiasis [Term] @@ -309365,7 +309206,7 @@ id: MONDO:0015623 name: cavitary myiasis def: "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." [Orphanet:165958] subset: ordo_disease {source="Orphanet:165958"} -xref: ICD10CM:B87.8 {source="ORDO:165958/ntbt", source="Orphanet:165958"} +xref: ICD10CM:B87.8 {source="Orphanet:165958/ntbt", source="Orphanet:165958"} xref: Orphanet:165958 {source="MONDO:equivalentTo"} xref: SCTID:764811001 {source="MONDO:equivalentTo"} is_a: MONDO:0019147 {source="Orphanet:165958"} ! myiasis @@ -309376,7 +309217,7 @@ name: diazoxide-sensitive diffuse hyperinsulinism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165985"} synonym: "hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form" EXACT [Orphanet:165985] -xref: ICD10CM:E16.1 {source="ORDO:165985/attributed", source="ORDO:165985/ntbt", source="Orphanet:165985"} +xref: ICD10CM:E16.1 {source="Orphanet:165985", source="Orphanet:165985/attributed", source="Orphanet:165985/ntbt"} xref: Orphanet:165985 {source="MONDO:equivalentTo"} is_a: MONDO:0019010 {source="Orphanet:165985"} ! congenital isolated hyperinsulinism @@ -309387,7 +309228,7 @@ def: "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide re subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165988"} synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form" EXACT [Orphanet:165988] -xref: ICD10CM:E16.1 {source="ORDO:165988/attributed", source="ORDO:165988/ntbt", source="Orphanet:165988"} +xref: ICD10CM:E16.1 {source="Orphanet:165988", source="Orphanet:165988/attributed", source="Orphanet:165988/ntbt"} xref: Orphanet:165988 {source="MONDO:equivalentTo"} is_a: MONDO:0017186 {source="Orphanet:165988"} ! diazoxide-resistant hyperinsulinism @@ -309410,10 +309251,10 @@ synonym: "hereditary sensorimotor neuropathy" EXACT [NCIT:C75467] synonym: "peroneal muscular atrophy" EXACT [DOID:10595, ICD9CM:356.1] xref: DOID:10595 {source="MONDO:equivalentTo"} xref: GARD:0006034 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:166/inclusion", source="ORDO:166/ntbt", source="DOID:10595", source="Orphanet:166"} +xref: ICD10CM:G60.0 {source="Orphanet:166/ntbt", source="Orphanet:166/inclusion", source="DOID:10595", source="Orphanet:166"} xref: ICD9:356.1 {source="DOID:10595"} -xref: MedDRA:10034699 {source="ORDO:166/e", source="Orphanet:166"} -xref: MESH:D002607 {source="MONDO:equivalentTo", source="ORDO:166/e", source="DOID:10595", source="Orphanet:166"} +xref: MedDRA:10034699 {source="Orphanet:166/e", source="Orphanet:166"} +xref: MESH:D002607 {source="Orphanet:166/e", source="MONDO:equivalentTo", source="DOID:10595", source="Orphanet:166"} xref: NCIT:C75467 {source="MONDO:equivalentTo", source="DOID:10595"} xref: OMIMPS:118220 {source="MONDO:equivalentTo", source="DOID:10595"} xref: Orphanet:166 {source="MONDO:equivalentTo"} @@ -309421,7 +309262,7 @@ xref: SCTID:128202008 {source="DOID:10595"} xref: SCTID:193158000 {source="DOID:10595"} xref: SCTID:193162006 {source="DOID:10595"} xref: SCTID:50548001 {source="DOID:10595"} -xref: UMLS:C0007959 {source="MONDO:equivalentTo", source="ORDO:166/e", source="DOID:10595", source="NCIT:C75467", source="Orphanet:166"} +xref: UMLS:C0007959 {source="Orphanet:166/e", source="MONDO:equivalentTo", source="DOID:10595", source="NCIT:C75467", source="Orphanet:166"} is_a: MONDO:0005244 {source="DOID:10595/inferred", source="MONDO:Redundant", source="NCIT:C75467", source="indirect"} ! peripheral neuropathy is_a: MONDO:0019056 {source="DOID:10595", source="MESH:D002607/inferred"} ! neuromuscular disease is_a: MONDO:0020127 {source="Orphanet:166"} ! genetic peripheral neuropathy @@ -309433,10 +309274,10 @@ name: multiple epiphyseal dysplasia due to collagen 9 anomaly def: "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported." [Orphanet:166002] subset: ordo_disease {source="Orphanet:166002"} xref: DOID:0070305 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="Orphanet:166002", source="MONDO:relatedTo", source="ORDO:166002/attributed", source="ORDO:166002/ntbt"} -xref: OMIM:600204 {source="Orphanet:166002", source="MONDO:superClassOf", source="ORDO:166002/btnt"} -xref: OMIM:600969 {source="Orphanet:166002", source="MONDO:superClassOf", source="ORDO:166002/btnt"} -xref: OMIM:614135 {source="Orphanet:166002", source="MONDO:superClassOf", source="ORDO:166002/btnt"} +xref: ICD10CM:Q77.3 {source="Orphanet:166002", source="MONDO:relatedTo", source="Orphanet:166002/attributed", source="Orphanet:166002/ntbt"} +xref: OMIM:600204 {source="Orphanet:166002", source="Orphanet:166002/btnt", source="MONDO:superClassOf"} +xref: OMIM:600969 {source="Orphanet:166002", source="Orphanet:166002/btnt", source="MONDO:superClassOf"} +xref: OMIM:614135 {source="Orphanet:166002", source="Orphanet:166002/btnt", source="MONDO:superClassOf"} xref: Orphanet:166002 {source="MONDO:equivalentTo"} xref: SCTID:766717008 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="MONDO:Redundant", source="Orphanet:166002"} ! multiple epiphyseal dysplasia @@ -309449,12 +309290,12 @@ name: von Willebrand disease type 2A def: "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers." [Orphanet:166084] subset: ordo_clinical_subtype {source="Orphanet:166084"} synonym: "von Willebrand disease, type 2A" EXACT [NCIT:C131686] -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166084", source="ORDO:166084/attributed", source="ORDO:166084/ntbt"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166084/attributed", source="Orphanet:166084/ntbt", source="Orphanet:166084"} xref: NCIT:C131686 {source="MONDO:equivalentTo"} -xref: OMIM:613554 {source="MONDO:subClassOf", source="Orphanet:166084", source="ORDO:166084/ntbt"} +xref: OMIM:613554 {source="MONDO:subClassOf", source="Orphanet:166084/ntbt", source="Orphanet:166084"} xref: Orphanet:166084 {source="MONDO:equivalentTo"} xref: SCTID:359714009 {source="MONDO:equivalentTo"} -xref: UMLS:C1282968 {source="MONDO:equivalentTo", source="NCIT:C131686", source="Orphanet:166084", source="ORDO:166084/e"} +xref: UMLS:C1282968 {source="Orphanet:166084/e", source="MONDO:equivalentTo", source="NCIT:C131686", source="Orphanet:166084"} is_a: MONDO:0013304 {source="Orphanet:166084"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015628/inferred", source="MONDO:Redundant", source="NCIT:C131686", source="Orphanet:166084/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="NCIT:C131686", source="indirect", source="linkedlifedata/inferred"} ! von Willebrand disease (hereditary or acquired) @@ -309467,13 +309308,13 @@ def: "A subtype of type 2 VWD characterized by a bleeding disorder associated wi subset: ordo_clinical_subtype {source="Orphanet:166087"} synonym: "von Willebrand disease type 2B" EXACT CLINGEN_PREFERRED [] synonym: "von Willebrand disease, type 2B" EXACT [NCIT:C131687] -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166087", source="ORDO:166087/attributed", source="ORDO:166087/ntbt"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166087", source="Orphanet:166087/attributed", source="Orphanet:166087/ntbt"} xref: NCIT:C131687 {source="MONDO:equivalentTo"} -xref: OMIM:613554 {source="MONDO:subClassOf", source="Orphanet:166087", source="ORDO:166087/ntbt"} +xref: OMIM:613554 {source="MONDO:subClassOf", source="Orphanet:166087", source="Orphanet:166087/ntbt"} xref: Orphanet:166087 {source="MONDO:equivalentTo"} xref: SCTID:359717002 {source="MONDO:equivalentTo"} xref: SCTID:359721009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C1282971 {source="Orphanet:166087", source="MONDO:equivalentTo", source="ORDO:166087/e", source="NCIT:C131687"} +xref: UMLS:C1282971 {source="Orphanet:166087", source="MONDO:equivalentTo", source="Orphanet:166087/e", source="NCIT:C131687"} is_a: MONDO:0013304 {source="Orphanet:166087"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015629/inferred", source="MONDO:Redundant", source="NCIT:C131687", source="Orphanet:166087/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="NCIT:C131687", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! von Willebrand disease (hereditary or acquired) @@ -309486,13 +309327,13 @@ def: "A subtype of type 2 VWD characterized by a bleeding disorder associated wi comment: Editor note: 2 sctitds refer to same disease subset: ordo_clinical_subtype {source="Orphanet:166090"} synonym: "von Willebrand disease, type 2M" EXACT [NCIT:C131688] -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="ORDO:166090/attributed", source="ORDO:166090/ntbt", source="Orphanet:166090"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166090", source="Orphanet:166090/attributed", source="Orphanet:166090/ntbt"} xref: NCIT:C131688 {source="MONDO:equivalentTo"} -xref: OMIM:613554 {source="MONDO:subClassOf", source="ORDO:166090/ntbt", source="Orphanet:166090"} +xref: OMIM:613554 {source="MONDO:subClassOf", source="Orphanet:166090", source="Orphanet:166090/ntbt"} xref: Orphanet:166090 {source="MONDO:equivalentTo"} xref: SCTID:359725000 {source="MONDO:equivalentTo"} xref: SCTID:359729006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: UMLS:C1282974 {source="MONDO:equivalentTo", source="ORDO:166090/e", source="Orphanet:166090", source="NCIT:C131688"} +xref: UMLS:C1282974 {source="MONDO:equivalentTo", source="Orphanet:166090", source="NCIT:C131688", source="Orphanet:166090/e"} is_a: MONDO:0013304 {source="Orphanet:166090"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015630/inferred", source="MONDO:Redundant", source="NCIT:C131688", source="Orphanet:166090/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="NCIT:C131688", source="indirect", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) @@ -309505,12 +309346,12 @@ def: "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD ch subset: ordo_clinical_subtype {source="Orphanet:166093"} synonym: "von Willebrand disease Normandy variant" EXACT [NCIT:C131689] synonym: "von Willebrand disease, type 2N" EXACT [NCIT:C131689] -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="ORDO:166093/attributed", source="ORDO:166093/ntbt", source="Orphanet:166093"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:166093", source="Orphanet:166093/attributed", source="Orphanet:166093/ntbt"} xref: NCIT:C131689 {source="MONDO:equivalentTo"} -xref: OMIM:613554 {source="MONDO:subClassOf", source="ORDO:166093/ntbt", source="Orphanet:166093"} +xref: OMIM:613554 {source="MONDO:subClassOf", source="Orphanet:166093", source="Orphanet:166093/ntbt"} xref: Orphanet:166093 {source="MONDO:equivalentTo"} xref: SCTID:359732009 {source="MONDO:equivalentTo"} -xref: UMLS:C1282975 {source="NCIT:C131689", source="MONDO:equivalentTo", source="Orphanet:166093", source="ORDO:166093/e"} +xref: UMLS:C1282975 {source="Orphanet:166093/e", source="NCIT:C131689", source="MONDO:equivalentTo", source="Orphanet:166093"} is_a: MONDO:0013304 {source="Orphanet:166093"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015631/inferred", source="MONDO:Redundant", source="NCIT:C131689", source="Orphanet:166093/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="NCIT:C131689", source="indirect", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) @@ -309520,7 +309361,7 @@ property_value: confidence "3.801097393689986" xsd:double id: MONDO:0015632 name: FASTKD2-related infantile mitochondrial encephalomyopathy subset: ordo_disease {source="Orphanet:166105"} -xref: ICD10CM:G71.3 {source="ORDO:166105/attributed", source="ORDO:166105/ntbt", source="Orphanet:166105"} +xref: ICD10CM:G71.3 {source="Orphanet:166105", source="Orphanet:166105/attributed", source="Orphanet:166105/ntbt"} xref: Orphanet:166105 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019058 {source="Orphanet:166105"} ! neurometabolic disease @@ -309540,8 +309381,8 @@ def: "A osteopoikilosis (disease) that is not part of a larger syndrome." [MONDO subset: ordo_disease {source="Orphanet:166119"} synonym: "isolated osteopoikilosis (disease)" EXACT [] synonym: "nonsyndromic osteopoikilosis (disease)" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q78.8 {source="ORDO:166119/inclusion", source="ORDO:166119/ntbt", source="Orphanet:166119"} -xref: OMIM:166700 {source="MONDO:subClassOf", source="ORDO:166119/ntbt", source="Orphanet:166119"} +xref: ICD10CM:Q78.8 {source="Orphanet:166119/inclusion", source="Orphanet:166119/ntbt", source="Orphanet:166119"} +xref: OMIM:166700 {source="MONDO:subClassOf", source="Orphanet:166119/ntbt", source="Orphanet:166119"} xref: Orphanet:166119 {source="MONDO:equivalentTo"} xref: UMLS:C0029455 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166119"} xref: UMLS:C1833699 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166119"} @@ -309559,11 +309400,11 @@ synonym: "comedo nevus of the palm" EXACT [Orphanet:166286] synonym: "linear eccrine Nevus with comedones" EXACT [NCIT:C4740] synonym: "Porokeratotic eccrine duct and hair follicle Nevus" EXACT [NCIT:C4740] synonym: "Porokeratotic eccrine nevus" EXACT [Orphanet:166286] -xref: ICD10CM:Q82.5 {source="Orphanet:166286", source="ORDO:166286/attributed", source="ORDO:166286/ntbt"} +xref: ICD10CM:Q82.5 {source="Orphanet:166286", source="Orphanet:166286/attributed", source="Orphanet:166286/ntbt"} xref: NCIT:C4740 {source="MONDO:equivalentTo"} xref: Orphanet:166286 {source="MONDO:equivalentTo"} xref: SCTID:239118007 {source="MONDO:equivalentTo"} -xref: UMLS:C0473579 {source="Orphanet:166286", source="ORDO:166286/e", source="MONDO:equivalentTo", source="NCIT:C4740"} +xref: UMLS:C0473579 {source="Orphanet:166286", source="MONDO:equivalentTo", source="NCIT:C4740", source="Orphanet:166286/e"} is_a: MONDO:0005073 {source="Orphanet:166286"} ! melanocytic nevus is_a: MONDO:0024482 {source="NCIT:C4740"} ! eccrine sweat gland hamartoma relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:166286"} ! inherited skin tumor @@ -309582,12 +309423,12 @@ synonym: "infection by Dirofilaria" EXACT [DOID:1082] xref: DOID:1082 {source="EFO:0007239", source="MONDO:equivalentTo"} xref: EFO:0007239 {source="MONDO:equivalentTo"} xref: GARD:0011908 {source="MONDO:equivalentTo"} -xref: ICD10CM:B74.8 {source="ORDO:166291/ntbt", source="Orphanet:166291", source="DOID:1082"} +xref: ICD10CM:B74.8 {source="Orphanet:166291", source="Orphanet:166291/ntbt", source="DOID:1082"} xref: ICD9:125.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D004184 {source="EFO:0007239", source="MONDO:equivalentTo", source="Orphanet:166291", source="ORDO:166291/e", source="DOID:1082"} +xref: MESH:D004184 {source="Orphanet:166291/e", source="EFO:0007239", source="MONDO:equivalentTo", source="Orphanet:166291", source="DOID:1082"} xref: Orphanet:166291 {source="MONDO:equivalentTo"} xref: SCTID:73328005 {source="MONDO:equivalentTo", source="DOID:1082"} -xref: UMLS:C0012602 {source="MONDO:equivalentTo", source="Orphanet:166291", source="ORDO:166291/e", source="DOID:1082"} +xref: UMLS:C0012602 {source="Orphanet:166291/e", source="MONDO:equivalentTo", source="Orphanet:166291", source="DOID:1082"} is_a: MONDO:0016075 {source="DOID:1082", source="MESH:D004184", source="Orphanet:166291", source="linkedlifedata"} ! filariasis intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:6286 ! Dirofilaria @@ -309599,7 +309440,7 @@ id: MONDO:0015637 name: benign non-familial infantile seizures subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:166295"} -xref: ICD10CM:G40.4 {source="ORDO:166295/attributed", source="ORDO:166295/ntbt", source="Orphanet:166295"} +xref: ICD10CM:G40.4 {source="Orphanet:166295/attributed", source="Orphanet:166295/ntbt", source="Orphanet:166295"} xref: Orphanet:166295 {source="MONDO:equivalentTo"} xref: UMLS:CN226716 {source="MONDO:equivalentTo"} is_a: MONDO:0015642 {source="Orphanet:166295"} ! benign partial infantile seizures @@ -309609,7 +309450,7 @@ id: MONDO:0015638 name: benign partial epilepsy of infancy with complex partial seizures def: "Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal." [Orphanet:166299] subset: ordo_disease {source="Orphanet:166299"} -xref: ICD10CM:G40.2 {source="Orphanet:166299", source="ORDO:166299/attributed", source="ORDO:166299/ntbt"} +xref: ICD10CM:G40.2 {source="Orphanet:166299", source="Orphanet:166299/attributed", source="Orphanet:166299/ntbt"} xref: Orphanet:166299 {source="MONDO:equivalentTo"} xref: UMLS:CN226717 {source="MONDO:equivalentTo"} is_a: MONDO:0015637 {source="Orphanet:166299"} ! benign non-familial infantile seizures @@ -309619,7 +309460,7 @@ id: MONDO:0015639 name: benign partial epilepsy with secondarily generalized seizures in infancy def: "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal." [Orphanet:166302] subset: ordo_disease {source="Orphanet:166302"} -xref: ICD10CM:G40.1 {source="ORDO:166302/attributed", source="ORDO:166302/ntbt", source="Orphanet:166302"} +xref: ICD10CM:G40.1 {source="Orphanet:166302", source="Orphanet:166302/attributed", source="Orphanet:166302/ntbt"} xref: Orphanet:166302 {source="MONDO:equivalentTo"} xref: UMLS:CN226718 {source="MONDO:equivalentTo"} is_a: MONDO:0015637 {source="Orphanet:166302"} ! benign non-familial infantile seizures @@ -309662,15 +309503,15 @@ synonym: "photoparoxysmal response" EXACT [DOID:0060281] synonym: "PSE" RELATED ABBREVIATION [GARD:0005648] xref: DOID:0060281 {source="MONDO:equivalentTo"} xref: GARD:0005648 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.8 {source="DOID:0060281", source="ORDO:166409/ntbt", source="Orphanet:166409"} +xref: ICD10CM:G40.8 {source="Orphanet:166409/ntbt", source="DOID:0060281", source="Orphanet:166409"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:132100 {source="MONDO:superClassOf", source="ORDO:166409/e", source="DOID:0060281", source="Orphanet:166409"} -xref: OMIM:609572 {source="MONDO:superClassOf", source="DOID:0060281", source="ORDO:166409/btnt", source="Orphanet:166409"} -xref: OMIM:609573 {source="MONDO:superClassOf", source="DOID:0060281", source="ORDO:166409/btnt", source="Orphanet:166409"} +xref: OMIM:132100 {source="Orphanet:166409/e", source="MONDO:superClassOf", source="DOID:0060281", source="Orphanet:166409"} +xref: OMIM:609572 {source="Orphanet:166409/btnt", source="MONDO:superClassOf", source="DOID:0060281", source="Orphanet:166409"} +xref: OMIM:609573 {source="Orphanet:166409/btnt", source="MONDO:superClassOf", source="DOID:0060281", source="Orphanet:166409"} xref: OMIMPS:132100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:166409 {source="MONDO:equivalentTo", source="DOID:0060281"} xref: SCTID:95208000 {source="MONDO:equivalentTo"} -xref: UMLS:C0393720 {source="MONDO:equivalentTo", source="ORDO:166409/e", source="Orphanet:166409"} +xref: UMLS:C0393720 {source="Orphanet:166409/e", source="MONDO:equivalentTo", source="Orphanet:166409"} is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166409", source="linkedlifedata"} ! reflex epilepsy intersection_of: MONDO:0017768 ! reflex epilepsy intersection_of: realized_in_response_to ECTO:0000007 ! exposure to visible light radiation @@ -309682,10 +309523,10 @@ id: MONDO:0015644 name: audiogenic seizures def: "Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice)." [Orphanet:166415] subset: ordo_disease {source="Orphanet:166415"} -xref: ICD10CM:G40.8 {source="ORDO:166415/ntbt", source="Orphanet:166415"} +xref: ICD10CM:G40.8 {source="Orphanet:166415", source="Orphanet:166415/ntbt"} xref: Orphanet:166415 {source="MONDO:equivalentTo"} xref: SCTID:765216006 {source="MONDO:equivalentTo"} -xref: UMLS:C0751791 {source="MONDO:equivalentTo", source="Orphanet:166415", source="ORDO:166415/e"} +xref: UMLS:C0751791 {source="MONDO:equivalentTo", source="Orphanet:166415", source="Orphanet:166415/e"} is_a: MONDO:0017768 {source="Orphanet:166415"} ! reflex epilepsy [Term] @@ -309694,10 +309535,10 @@ name: eating seizures subset: ordo_disease {source="Orphanet:166418"} synonym: "eating epilepsy" EXACT [Orphanet:166418] synonym: "eating reflex epilepsy" RELATED [Orphanet:166418] -xref: ICD10CM:G40.8 {source="ORDO:166418/ntbt", source="Orphanet:166418"} +xref: ICD10CM:G40.8 {source="Orphanet:166418/ntbt", source="Orphanet:166418"} xref: Orphanet:166418 {source="MONDO:equivalentTo"} xref: SCTID:230450001 {source="MONDO:equivalentTo"} -xref: UMLS:C0393725 {source="MONDO:equivalentTo", source="ORDO:166418/e", source="Orphanet:166418"} +xref: UMLS:C0393725 {source="Orphanet:166418/e", source="MONDO:equivalentTo", source="Orphanet:166418"} is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166418", source="linkedlifedata"} ! reflex epilepsy intersection_of: MONDO:0017768 ! reflex epilepsy intersection_of: realized_in_response_to GO:0042755 ! eating behavior @@ -309707,7 +309548,7 @@ id: MONDO:0015646 name: orgasm-induced seizures def: "Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine." [Orphanet:166421] subset: ordo_disease {source="Orphanet:166421"} -xref: ICD10CM:G40.8 {source="Orphanet:166421", source="ORDO:166421/ntbt"} +xref: ICD10CM:G40.8 {source="Orphanet:166421/ntbt", source="Orphanet:166421"} xref: Orphanet:166421 {source="MONDO:equivalentTo"} xref: UMLS:CN200056 {source="MONDO:equivalentTo"} is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166421"} ! reflex epilepsy @@ -309719,7 +309560,7 @@ id: MONDO:0015647 name: thinking seizures def: "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." [Orphanet:166424] subset: ordo_disease {source="Orphanet:166424"} -xref: ICD10CM:G40.8 {source="ORDO:166424/ntbt", source="Orphanet:166424"} +xref: ICD10CM:G40.8 {source="Orphanet:166424", source="Orphanet:166424/ntbt"} xref: Orphanet:166424 {source="MONDO:equivalentTo"} xref: SCTID:763622006 {source="MONDO:equivalentTo"} xref: UMLS:CN200057 {source="MONDO:equivalentTo"} @@ -309732,7 +309573,7 @@ id: MONDO:0015648 name: startle epilepsy def: "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability." [Orphanet:166427] subset: ordo_disease {source="Orphanet:166427"} -xref: ICD10CM:G40.8 {source="ORDO:166427/ntbt", source="Orphanet:166427"} +xref: ICD10CM:G40.8 {source="Orphanet:166427/ntbt", source="Orphanet:166427"} xref: Orphanet:166427 {source="MONDO:equivalentTo"} xref: SCTID:763632004 {source="MONDO:equivalentTo"} xref: UMLS:CN200058 {source="MONDO:equivalentTo"} @@ -309745,7 +309586,7 @@ id: MONDO:0015649 name: micturation-induced seizures def: "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases." [Orphanet:166430] subset: ordo_disease {source="Orphanet:166430"} -xref: ICD10CM:G40.8 {source="Orphanet:166430", source="ORDO:166430/ntbt"} +xref: ICD10CM:G40.8 {source="Orphanet:166430/ntbt", source="Orphanet:166430"} xref: Orphanet:166430 {source="MONDO:equivalentTo"} xref: UMLS:CN200059 {source="MONDO:equivalentTo"} is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166430"} ! reflex epilepsy @@ -309829,7 +309670,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:166481"} synonym: "metabolic diseases with epilepsy" EXACT [Orphanet:166481] xref: Orphanet:166481 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C1299598 {source="MONDO:obsoleteEquivalent", source="ORDO:166481/e", source="Orphanet:166481"} +xref: UMLS:C1299598 {source="MONDO:obsoleteEquivalent", source="Orphanet:166481/e", source="Orphanet:166481"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string is_obsolete: true @@ -309877,7 +309718,7 @@ id: MONDO:0015660 name: sporadic fetal brain disruption sequence def: "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." [Orphanet:1665] subset: ordo_malformation_syndrome {source="Orphanet:1665"} -xref: ICD10CM:Q02 {source="ORDO:1665/ntbt", source="Orphanet:1665"} +xref: ICD10CM:Q02 {source="Orphanet:1665", source="Orphanet:1665/ntbt"} xref: Orphanet:1665 {source="MONDO:equivalentTo"} xref: SCTID:763717004 {source="MONDO:equivalentTo"} xref: UMLS:CN237425 {source="MONDO:equivalentTo"} @@ -309895,16 +309736,16 @@ synonym: "heart predominantly in right hemithorax" EXACT [DOID:9565] xref: DOID:9565 {source="MONDO:equivalentTo"} xref: GARD:0001827 {source="MONDO:equivalentTo"} xref: HP:0001651 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q24.0 {source="Orphanet:1666", source="ORDO:1666/e", source="DOID:9565"} +xref: ICD10CM:Q24.0 {source="Orphanet:1666", source="Orphanet:1666/e", source="DOID:9565"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10012592 {source="Orphanet:1666", source="ORDO:1666/e"} -xref: MESH:D003914 {source="MONDO:equivalentTo", source="Orphanet:1666", source="ORDO:1666/e", source="DOID:9565"} +xref: MedDRA:10012592 {source="Orphanet:1666", source="Orphanet:1666/e"} +xref: MESH:D003914 {source="MONDO:equivalentTo", source="Orphanet:1666", source="Orphanet:1666/e", source="DOID:9565"} xref: NCIT:C84669 {source="MONDO:equivalentTo", source="DOID:9565"} xref: Orphanet:1666 {source="MONDO:equivalentTo"} xref: SCTID:156925007 {source="DOID:9565"} xref: SCTID:27637000 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="DOID:9565"} -xref: UMLS:C0011813 {source="NCIT:C84669", source="Orphanet:1666", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1666/e", source="GARD:0001827", source="DOID:9565"} -xref: UMLS:C0265863 {source="Orphanet:1666", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1666/e"} +xref: UMLS:C0011813 {source="NCIT:C84669", source="Orphanet:1666", source="MONDO:notFoundInDiseaseSubset", source="GARD:0001827", source="Orphanet:1666/e", source="DOID:9565"} +xref: UMLS:C0265863 {source="Orphanet:1666", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1666/e"} is_a: MONDO:0005453 {source="DOID:9565", source="MESH:D003914"} ! congenital heart disease is_a: MONDO:0018677 {source="Orphanet:1666"} ! visceral heterotaxy relationship: disease_has_major_feature HP:0001651 ! Dextrocardia @@ -309943,7 +309784,7 @@ xref: NCIT:C116955 {source="MONDO:equivalentTo"} xref: Orphanet:1672 {source="MONDO:equivalentTo"} xref: SCTID:237733001 {source="MONDO:equivalentTo"} xref: UMLS:C0271889 {source="Orphanet:1672", source="MONDO:equivalentTo", source="NCIT:C116955"} -xref: UMLS:C0342436 {source="ORDO:1672/e", source="Orphanet:1672", source="MONDO:equivalentTo"} +xref: UMLS:C0342436 {source="Orphanet:1672", source="MONDO:equivalentTo", source="Orphanet:1672/e"} xref: UMLS:CN200089 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C116955"} ! syndromic disease is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder @@ -309980,14 +309821,14 @@ synonym: "papular mucinosis" RELATED [MESH:D053718] synonym: "Scleromyxedema" EXACT [NCIT:C85061] synonym: "scleromyxoedema" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/] xref: GARD:0007615 {source="MONDO:equivalentTo"} -xref: ICD10CM:L98.5 {source="ORDO:167635/ntbt", source="Orphanet:167635"} +xref: ICD10CM:L98.5 {source="Orphanet:167635", source="Orphanet:167635/ntbt"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10055046 {source="ORDO:167635/e", source="Orphanet:167635"} -xref: MESH:D053718 {source="MONDO:equivalentTo", source="ORDO:167635/e", source="Orphanet:167635"} +xref: MedDRA:10055046 {source="Orphanet:167635", source="Orphanet:167635/e"} +xref: MESH:D053718 {source="MONDO:equivalentTo", source="Orphanet:167635", source="Orphanet:167635/e"} xref: NCIT:C85061 {source="MONDO:equivalentTo"} xref: Orphanet:167635 {source="MONDO:equivalentTo"} xref: SCTID:402468007 {source="MONDO:equivalentTo"} -xref: UMLS:C0263390 {source="NCIT:C85061", source="MONDO:equivalentTo", source="ORDO:167635/e", source="Orphanet:167635"} +xref: UMLS:C0263390 {source="NCIT:C85061", source="MONDO:equivalentTo", source="Orphanet:167635", source="Orphanet:167635/e"} xref: UMLS:CN200092 {source="MONDO:equivalentTo"} is_a: MONDO:0002523 {source="MESH:D053718", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutaneous mucinosis is_a: MONDO:0018432 {source="MONDO:Redundant", source="Orphanet:167635", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/", source="linkedlifedata"} ! lichen myxedematosus @@ -310001,7 +309842,7 @@ name: familial idiopathic dilatation of the right atrium def: "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." [Orphanet:1677] subset: ordo_morphological_anomaly {source="Orphanet:1677"} synonym: "familial idiopathic dilatation of the right atrium (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: ICD10CM:Q20.8 {source="ORDO:1677/attributed", source="ORDO:1677/ntbt", source="Orphanet:1677"} +xref: ICD10CM:Q20.8 {source="Orphanet:1677", source="Orphanet:1677/attributed", source="Orphanet:1677/ntbt"} xref: Orphanet:1677 {source="MONDO:equivalentTo"} xref: SCTID:716773002 {source="MONDO:equivalentTo"} xref: UMLS:CN200093 {source="MONDO:equivalentTo"} @@ -310039,7 +309880,7 @@ name: hereditary dentin defect def: "The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." [Orphanet:167759] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:167759"} -xref: ICD10CM:K00.5 {source="ORDO:167759/attributed", source="ORDO:167759/ntbt", source="Orphanet:167759"} +xref: ICD10CM:K00.5 {source="Orphanet:167759", source="Orphanet:167759/attributed", source="Orphanet:167759/ntbt"} xref: Orphanet:167759 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder is_a: MONDO:0006999 {source="MONDO:0018488-obsoleted"} ! tooth disorder @@ -310113,17 +309954,17 @@ synonym: "late infantile NCL" EXACT [Orphanet:168491] synonym: "late infantile neuronal ceroid lipofuscinosis" EXACT [] synonym: "late-infantile neuronal ceroid lipofuscinosis" EXACT [] synonym: "LINCL" EXACT ABBREVIATION [Orphanet:168491] -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:168491/attributed", source="ORDO:168491/ntbt", source="Orphanet:168491"} -xref: OMIM:204500 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} -xref: OMIM:256730 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} -xref: OMIM:256731 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} -xref: OMIM:600143 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} -xref: OMIM:601780 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} -xref: OMIM:610127 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} -xref: OMIM:610951 {source="ORDO:168491/btnt", source="MONDO:superClassOf", source="Orphanet:168491"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:168491", source="Orphanet:168491/attributed", source="Orphanet:168491/ntbt"} +xref: OMIM:204500 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} +xref: OMIM:256730 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} +xref: OMIM:256731 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} +xref: OMIM:600143 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} +xref: OMIM:601780 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} +xref: OMIM:610127 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} +xref: OMIM:610951 {source="MONDO:superClassOf", source="Orphanet:168491", source="Orphanet:168491/btnt"} xref: Orphanet:168491 {source="MONDO:equivalentTo"} xref: SCTID:14637005 {source="MONDO:equivalentTo"} -xref: UMLS:C0022340 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:168491", source="ORDO:168491/e"} +xref: UMLS:C0022340 {source="Orphanet:168491/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:168491"} is_a: MONDO:0002561 {source="Orphanet:168491/inferred", source="PMID:21723623", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0016295 {source="Orphanet:168491", source="linkedlifedata/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="Orphanet:168491"} ! progressive myoclonus epilepsy @@ -310163,7 +310004,7 @@ synonym: "Cardiac diverticulum" EXACT [MONDO:ambiguous] synonym: "cardiac diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0001094 {source="MONDO:equivalentTo"} xref: HP:0100571 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q24.8 {source="Orphanet:1686", source="ORDO:1686/ntbt"} +xref: ICD10CM:Q24.8 {source="Orphanet:1686/ntbt", source="Orphanet:1686"} xref: Orphanet:1686 {source="MONDO:equivalentTo"} xref: UMLS:CN226726 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="Orphanet:1686"} ! congenital heart malformation @@ -310174,7 +310015,7 @@ id: MONDO:0015678 name: dysplasia of head of femur, Meyer type def: "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." [Orphanet:168621] subset: ordo_disease {source="Orphanet:168621"} -xref: ICD10CM:Q78.8 {source="Orphanet:168621", source="ORDO:168621/attributed", source="ORDO:168621/ntbt"} +xref: ICD10CM:Q78.8 {source="Orphanet:168621/attributed", source="Orphanet:168621/ntbt", source="Orphanet:168621"} xref: Orphanet:168621 {source="MONDO:equivalentTo"} xref: SCTID:715861004 {source="MONDO:equivalentTo"} xref: UMLS:C4274970 {source="MONDO:equivalentTo"} @@ -310184,10 +310025,10 @@ is_a: MONDO:0019692 {source="Orphanet:168621"} ! multiple epiphyseal dysplasia a id: MONDO:0015679 name: autosomal thrombocytopenia with normal platelets subset: ordo_etiological_subtype {source="Orphanet:168629"} -xref: ICD10CM:D69.4 {source="ORDO:168629/attributed", source="ORDO:168629/ntbt", source="Orphanet:168629"} -xref: OMIM:188000 {source="ORDO:168629/btnt", source="MONDO:superClassOf", source="Orphanet:168629"} -xref: OMIM:273900 {source="ORDO:168629/btnt", source="MONDO:superClassOf", source="Orphanet:168629"} -xref: OMIM:612004 {source="ORDO:168629/btnt", source="MONDO:superClassOf", source="Orphanet:168629"} +xref: ICD10CM:D69.4 {source="Orphanet:168629/attributed", source="Orphanet:168629/ntbt", source="Orphanet:168629"} +xref: OMIM:188000 {source="MONDO:superClassOf", source="Orphanet:168629/btnt", source="Orphanet:168629"} +xref: OMIM:273900 {source="MONDO:superClassOf", source="Orphanet:168629/btnt", source="Orphanet:168629"} +xref: OMIM:612004 {source="MONDO:superClassOf", source="Orphanet:168629/btnt", source="Orphanet:168629"} xref: Orphanet:168629 {source="MONDO:equivalentTo"} xref: UMLS:CN200175 {source="MONDO:equivalentTo"} is_a: MONDO:0017057 {source="Orphanet:168629"} ! hereditary thrombocytopenia with normal platelets @@ -310208,17 +310049,17 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 x property_value: seeAlso https://github.com/Orphanet/ORDO/issues/21 xsd:anyURI is_obsolete: true replaced_by: MONDO:0000594 -consider: ICD10CM:F84.0 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: ICD10CM:F84.1 {source="ORDO:168778/btnt", source="Orphanet:168778", source="MONDO:superClassOf", source="ORDO:168778/specific"} -consider: ICD10CM:F84.2 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: ICD10CM:F84.3 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: ICD10CM:F84.4 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: ICD10CM:F84.5 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: ICD10CM:F84.8 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: ICD10CM:F84.9 {source="ORDO:168778/btnt", source="Orphanet:168778", source="ORDO:168778/specific"} -consider: MedDRA:10061345 {source="Orphanet:168778", source="ORDO:168778/e"} -consider: MESH:D002659 {source="Orphanet:168778", source="ORDO:168778/e"} -consider: UMLS:C0524528 {source="Orphanet:168778", source="ORDO:168778/e"} +consider: ICD10CM:F84.0 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.1 {source="Orphanet:168778", source="MONDO:superClassOf", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.2 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.3 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.4 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.5 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.8 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: ICD10CM:F84.9 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} +consider: MedDRA:10061345 {source="Orphanet:168778", source="Orphanet:168778/e"} +consider: MESH:D002659 {source="Orphanet:168778", source="Orphanet:168778/e"} +consider: UMLS:C0524528 {source="Orphanet:168778", source="Orphanet:168778/e"} [Term] id: MONDO:0015681 @@ -310229,12 +310070,12 @@ subset: ordo_disease {source="Orphanet:168782"} synonym: "dementia infantilis" EXACT [Orphanet:168782] synonym: "heller syndrome" EXACT [Orphanet:168782] xref: GARD:0006040 {source="MONDO:equivalentTo"} -xref: ICD10CM:F84.3 {source="Orphanet:168782", source="ORDO:168782/specific", source="ORDO:168782/e"} -xref: MedDRA:10008522 {source="Orphanet:168782", source="ORDO:168782/e"} +xref: ICD10CM:F84.3 {source="Orphanet:168782", source="Orphanet:168782/e", source="Orphanet:168782/specific"} +xref: MedDRA:10008522 {source="Orphanet:168782", source="Orphanet:168782/e"} xref: NCIT:C97164 {source="MONDO:equivalentTo"} xref: Orphanet:168782 {source="MONDO:equivalentTo"} xref: SCTID:71961003 {source="MONDO:equivalentTo"} -xref: UMLS:C0236791 {source="Orphanet:168782", source="MONDO:equivalentTo", source="NCIT:C97164", source="ORDO:168782/e"} +xref: UMLS:C0236791 {source="Orphanet:168782", source="MONDO:equivalentTo", source="NCIT:C97164", source="Orphanet:168782/e"} xref: UMLS:CN072151 {source="MONDO:equivalentTo"} is_a: MONDO:0000594 {source="MONDO:Redundant", source="NCIT:C97164", source="Orphanet:168782", source="indirect"} ! pervasive developmental disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015680"} ! rare @@ -310255,9 +310096,9 @@ id: MONDO:0015683 name: primary malignant peritoneal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:168807"} -xref: ICD10CM:C45.1 {source="ORDO:168807/btnt", source="Orphanet:168807"} -xref: ICD10CM:C48.1 {source="ORDO:168807/btnt", source="Orphanet:168807"} -xref: ICD10CM:C48.2 {source="ORDO:168807/btnt", source="Orphanet:168807"} +xref: ICD10CM:C45.1 {source="Orphanet:168807/btnt", source="Orphanet:168807"} +xref: ICD10CM:C48.1 {source="Orphanet:168807/btnt", source="Orphanet:168807"} +xref: ICD10CM:C48.2 {source="Orphanet:168807/btnt", source="Orphanet:168807"} xref: Orphanet:168807 {source="MONDO:equivalentTo"} xref: UMLS:CN200181 {source="MONDO:equivalentTo"} is_a: MONDO:0015682 {source="Orphanet:168807"} ! primary peritoneal tumor @@ -310288,7 +310129,7 @@ synonym: "primary peritoneal carcinoma (disease)" EXACT [https://orcid.org/0000- synonym: "primary peritoneal serous carcinoma" EXACT [Orphanet:168829] synonym: "serous surface papillary carcinoma" EXACT [Orphanet:168829] xref: HP:0030406 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C48.2 {source="ORDO:168829/ntbt", source="Orphanet:168829"} +xref: ICD10CM:C48.2 {source="Orphanet:168829/ntbt", source="Orphanet:168829"} xref: NCIT:C40022 {source="MONDO:equivalentTo"} xref: Orphanet:168829 {source="MONDO:equivalentTo"} xref: UMLS:C1514428 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C40022"} @@ -310301,11 +310142,11 @@ id: MONDO:0015687 name: chronic eosinophilic leukemia subset: ordo_disease {source="Orphanet:168940"} xref: DOID:0080367 {source="MONDO:equivalentTo"} -xref: MedDRA:10065854 {source="ORDO:168940/e", source="Orphanet:168940"} +xref: MedDRA:10065854 {source="Orphanet:168940", source="Orphanet:168940/e"} xref: MESH:C580364 {source="MONDO:equivalentTo"} xref: Orphanet:168940 {source="MONDO:equivalentTo"} xref: SCTID:188733003 {source="MONDO:equivalentTo"} -xref: UMLS:C0346421 {source="ORDO:168940/e", source="Orphanet:168940", source="MONDO:equivalentTo"} +xref: UMLS:C0346421 {source="Orphanet:168940", source="MONDO:equivalentTo", source="Orphanet:168940/e"} is_a: MONDO:0020076 {source="Orphanet:168940"} ! myeloproliferative neoplasm [Term] @@ -310340,7 +310181,7 @@ synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [DOID: synonym: "myeloid/lymphoid neoplasm associated with PDGFRA rearrangement" RELATED [Orphanet:168947] synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" EXACT [NCIT:C84275] xref: DOID:0080165 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.1 {source="ORDO:168947/ntbt", source="Orphanet:168947"} +xref: ICD10CM:D47.1 {source="Orphanet:168947", source="Orphanet:168947/ntbt"} xref: ICDO:9965/3 {source="NCIT:C84275"} xref: NCIT:C84275 {source="DOID:0080165", source="MONDO:equivalentTo"} xref: ONCOTREE:MLNPDGFRA {source="MONDO:equivalentTo"} @@ -310362,14 +310203,14 @@ synonym: "myeloid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276] synonym: "myeloid/lymphoid neoplasm associated with PDGFRB rearrangement" RELATED [Orphanet:168950] synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276] xref: DOID:0080166 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.1 {source="Orphanet:168950", source="ORDO:168950/ntbt"} +xref: ICD10CM:D47.1 {source="Orphanet:168950", source="Orphanet:168950/ntbt"} xref: ICDO:9966/3 {source="NCIT:C84276"} xref: NCIT:C84276 {source="DOID:0080166", source="MONDO:equivalentTo"} xref: ONCOTREE:MLNPDGFRB {source="MONDO:equivalentTo"} xref: Orphanet:168950 {source="MONDO:equivalentTo"} xref: SCTID:724642009 {source="MONDO:equivalentTo"} xref: UMLS:C2827361 {source="MONDO:equivalentTo"} -xref: UMLS:C3472621 {source="Orphanet:168950", source="ORDO:168950/e", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C84276"} +xref: UMLS:C3472621 {source="Orphanet:168950", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:168950/e", source="NCIT:C84276"} is_a: MONDO:0015688 {source="DOID:0080166", source="NCIT:C84276", source="Orphanet:168950"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3845 @@ -310391,9 +310232,9 @@ xref: GARD:0002804 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:D72.1 {source="DOID:999"} xref: ICD9:288.3 {source="DOID:999"} xref: ICDO:9964/3 {source="NCIT:C27038"} -xref: MedDRA:10048643 {source="Orphanet:168956", source="ORDO:168956/e"} +xref: MedDRA:10048643 {source="Orphanet:168956", source="Orphanet:168956/e"} xref: MESH:D004802 {source="DOID:999"} -xref: MESH:D017681 {source="DOID:999", source="MONDO:equivalentTo", source="Orphanet:168956", source="ORDO:168956/e"} +xref: MESH:D017681 {source="DOID:999", source="MONDO:equivalentTo", source="Orphanet:168956", source="Orphanet:168956/e"} xref: NCIT:C27038 {source="MONDO:equivalentTo"} xref: Orphanet:168956 {source="MONDO:equivalentTo"} xref: SCTID:165524009 {source="DOID:999"} @@ -310402,7 +310243,7 @@ xref: SCTID:27955006 {source="DOID:999"} xref: SCTID:418928000 {source="DOID:999"} xref: SCTID:419455006 {source="MONDO:equivalentTo"} xref: UMLS:C0014457 {source="DOID:999", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1540912 {source="MONDO:equivalentTo", source="NCIT:C27038", source="Orphanet:168956", source="ORDO:168956/e"} +xref: UMLS:C1540912 {source="MONDO:equivalentTo", source="NCIT:C27038", source="Orphanet:168956", source="Orphanet:168956/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C27038"} ! syndromic disease is_a: MONDO:0004805 {source="DOID:999", source="MESH:D017681/inferred", source="linkedlifedata/inferred"} ! leukocyte disorder is_a: MONDO:0016345 {source="Orphanet:168956"} ! non-familial restrictive cardiomyopathy @@ -310419,12 +310260,12 @@ subset: ordo_disease {source="Orphanet:168960"} synonym: "RAEB-t" EXACT [Orphanet:168960] xref: ICD9:238.73 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9984/3 {source="NCIT:C27080"} -xref: MedDRA:10038271 {source="ORDO:168960/e", source="Orphanet:168960"} +xref: MedDRA:10038271 {source="Orphanet:168960", source="Orphanet:168960/e"} xref: NCIT:C27080 {source="MONDO:equivalentTo"} xref: Orphanet:168960 {source="MONDO:equivalentTo"} xref: SCTID:110000005 {source="MONDO:equivalentTo"} xref: UMLS:C0002894 {source="Orphanet:168960", source="MONDO:directSiblingOf"} -xref: UMLS:C0280028 {source="ORDO:168960/e", source="Orphanet:168960", source="MONDO:equivalentTo", source="NCIT:C27080"} +xref: UMLS:C0280028 {source="Orphanet:168960", source="MONDO:equivalentTo", source="NCIT:C27080", source="Orphanet:168960/e"} xref: UMLS:CN200189 {source="MONDO:equivalentTo"} is_a: MONDO:0018881 {source="Orphanet:168960", source="linkedlifedata"} ! myelodysplastic syndrome relationship: has_modifier HP:0031375 ! Refractory @@ -310456,9 +310297,9 @@ name: combined immunodeficiency due to CRAC channel dysfunction def: "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:169090] subset: ordo_disease {source="Orphanet:169090"} synonym: "immune dysfunction due to T-cell inactivation due to calcium entry defect" EXACT [Orphanet:169090] -xref: ICD10CM:D81.8 {source="Orphanet:169090", source="ORDO:169090/attributed", source="ORDO:169090/ntbt"} -xref: OMIM:612782 {source="Orphanet:169090", source="ORDO:169090/btnt", source="MONDO:superClassOf"} -xref: OMIM:612783 {source="Orphanet:169090", source="ORDO:169090/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:D81.8 {source="Orphanet:169090/attributed", source="Orphanet:169090/ntbt", source="Orphanet:169090"} +xref: OMIM:612782 {source="Orphanet:169090/btnt", source="Orphanet:169090", source="MONDO:superClassOf"} +xref: OMIM:612783 {source="Orphanet:169090/btnt", source="Orphanet:169090", source="MONDO:superClassOf"} xref: Orphanet:169090 {source="MONDO:equivalentTo"} xref: SCTID:717811007 {source="MONDO:equivalentTo"} is_a: MONDO:0015823 {source="Orphanet:169090"} ! primary immunodeficiency due to a defect in adaptive immunity @@ -310477,7 +310318,7 @@ xref: DOID:0060028 {source="MONDO:equivalentTo"} xref: GARD:0008622 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: Orphanet:169105 {source="MONDO:equivalentTo"} xref: SCTID:9893005 {source="MONDO:equivalentTo"} -xref: UMLS:C0221027 {source="ORDO:169105/e", source="Orphanet:169105", source="MONDO:equivalentTo"} +xref: UMLS:C0221027 {source="Orphanet:169105", source="MONDO:equivalentTo", source="Orphanet:169105/e"} is_a: MONDO:0015977 {source="DOID:0060028"} ! agammaglobulinemia is_a: MONDO:0017769 {source="Orphanet:169105"} ! acquired immunodeficiency @@ -310485,11 +310326,11 @@ is_a: MONDO:0017769 {source="Orphanet:169105"} ! acquired immunodeficiency id: MONDO:0015697 name: immunoglobulin heavy chain deficiency subset: ordo_disease {source="Orphanet:169110"} -xref: ICD10CM:D80.8 {source="ORDO:169110/attributed", source="ORDO:169110/ntbt", source="Orphanet:169110"} +xref: ICD10CM:D80.8 {source="Orphanet:169110/attributed", source="Orphanet:169110/ntbt", source="Orphanet:169110"} xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:169110 {source="MONDO:equivalentTo"} xref: SCTID:234539005 {source="MONDO:equivalentTo"} -xref: UMLS:C0398692 {source="MONDO:equivalentTo", source="ORDO:169110/e", source="Orphanet:169110"} +xref: UMLS:C0398692 {source="Orphanet:169110/e", source="MONDO:equivalentTo", source="Orphanet:169110"} is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production [Term] @@ -310500,13 +310341,13 @@ subset: ordo_disease {source="Orphanet:169139"} synonym: "THI" EXACT ABBREVIATION [NCIT:C27071] synonym: "transient hypogammaglobulinemia of infancy" EXACT [DOID:624, NCIT:C27071] xref: DOID:624 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.7 {source="ORDO:169139/specific", source="DOID:624", source="Orphanet:169139", source="ORDO:169139/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D80.7 {source="DOID:624", source="Orphanet:169139", source="MONDO:equivalentTo", source="Orphanet:169139/e", source="Orphanet:169139/specific"} xref: ICD9:279.09 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10044388 {source="Orphanet:169139", source="ORDO:169139/e"} +xref: MedDRA:10044388 {source="Orphanet:169139", source="Orphanet:169139/e"} xref: NCIT:C27071 {source="DOID:624", source="MONDO:equivalentTo"} xref: Orphanet:169139 {source="MONDO:equivalentTo"} xref: SCTID:88714009 {source="DOID:624", source="MONDO:equivalentTo"} -xref: UMLS:C0272238 {source="DOID:624", source="Orphanet:169139", source="ORDO:169139/e", source="MONDO:equivalentTo", source="NCIT:C27071"} +xref: UMLS:C0272238 {source="DOID:624", source="Orphanet:169139", source="MONDO:equivalentTo", source="NCIT:C27071", source="Orphanet:169139/e"} is_a: MONDO:0003827 {source="DOID:624", source="NCIT:C27071"} ! transient hypogammaglobulinemia [Term] @@ -310517,13 +310358,13 @@ subset: ordo_disease {source="Orphanet:169147"} synonym: "immunodeficiency due to a C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147] synonym: "immunodeficiency due to an early component of complement deficiency" EXACT [Orphanet:169147] synonym: "immunodeficiency due to C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147] -xref: ICD10CM:D84.1 {source="Orphanet:169147", source="ORDO:169147/attributed", source="ORDO:169147/ntbt"} -xref: OMIM:216950 {source="Orphanet:169147", source="MONDO:superClassOf", source="ORDO:169147/btnt"} -xref: OMIM:217000 {source="Orphanet:169147", source="MONDO:superClassOf", source="ORDO:169147/btnt"} -xref: OMIM:613652 {source="Orphanet:169147", source="MONDO:superClassOf", source="ORDO:169147/btnt"} -xref: OMIM:613783 {source="Orphanet:169147", source="MONDO:superClassOf", source="ORDO:169147/btnt"} -xref: OMIM:614379 {source="Orphanet:169147", source="MONDO:superClassOf", source="ORDO:169147/btnt"} -xref: OMIM:614380 {source="Orphanet:169147", source="MONDO:superClassOf", source="ORDO:169147/btnt"} +xref: ICD10CM:D84.1 {source="Orphanet:169147/attributed", source="Orphanet:169147/ntbt", source="Orphanet:169147"} +xref: OMIM:216950 {source="Orphanet:169147/btnt", source="Orphanet:169147", source="MONDO:superClassOf"} +xref: OMIM:217000 {source="Orphanet:169147/btnt", source="Orphanet:169147", source="MONDO:superClassOf"} +xref: OMIM:613652 {source="Orphanet:169147/btnt", source="Orphanet:169147", source="MONDO:superClassOf"} +xref: OMIM:613783 {source="Orphanet:169147/btnt", source="Orphanet:169147", source="MONDO:superClassOf"} +xref: OMIM:614379 {source="Orphanet:169147/btnt", source="Orphanet:169147", source="MONDO:superClassOf"} +xref: OMIM:614380 {source="Orphanet:169147/btnt", source="Orphanet:169147", source="MONDO:superClassOf"} xref: Orphanet:169147 {source="MONDO:equivalentTo"} is_a: MONDO:0003832 {source="Orphanet:169147"} ! complement deficiency @@ -310536,13 +310377,13 @@ synonym: "deficiency of complement of terminal pathway" EXACT [Orphanet:169150] synonym: "immunodeficiency due to a C5 to C9 component complement deficiency" EXACT [Orphanet:169150] synonym: "immunodeficiency due to C5 to C9 component complement deficiency" EXACT [Orphanet:169150] synonym: "terminal complement pathway deficiency" EXACT [Orphanet:169150] -xref: ICD10CM:D84.1 {source="ORDO:169150/attributed", source="ORDO:169150/ntbt", source="Orphanet:169150"} -xref: OMIM:609536 {source="ORDO:169150/btnt", source="MONDO:superClassOf", source="Orphanet:169150"} -xref: OMIM:610102 {source="ORDO:169150/btnt", source="MONDO:superClassOf", source="Orphanet:169150"} -xref: OMIM:612446 {source="ORDO:169150/btnt", source="MONDO:superClassOf", source="Orphanet:169150"} -xref: OMIM:613789 {source="ORDO:169150/btnt", source="MONDO:superClassOf", source="Orphanet:169150"} -xref: OMIM:613790 {source="ORDO:169150/btnt", source="MONDO:superClassOf", source="Orphanet:169150"} -xref: OMIM:613825 {source="ORDO:169150/btnt", source="MONDO:superClassOf", source="Orphanet:169150"} +xref: ICD10CM:D84.1 {source="Orphanet:169150/attributed", source="Orphanet:169150/ntbt", source="Orphanet:169150"} +xref: OMIM:609536 {source="MONDO:superClassOf", source="Orphanet:169150/btnt", source="Orphanet:169150"} +xref: OMIM:610102 {source="MONDO:superClassOf", source="Orphanet:169150/btnt", source="Orphanet:169150"} +xref: OMIM:612446 {source="MONDO:superClassOf", source="Orphanet:169150/btnt", source="Orphanet:169150"} +xref: OMIM:613789 {source="MONDO:superClassOf", source="Orphanet:169150/btnt", source="Orphanet:169150"} +xref: OMIM:613790 {source="MONDO:superClassOf", source="Orphanet:169150/btnt", source="Orphanet:169150"} +xref: OMIM:613825 {source="MONDO:superClassOf", source="Orphanet:169150/btnt", source="Orphanet:169150"} xref: Orphanet:169150 {source="MONDO:equivalentTo"} is_a: MONDO:0003832 {source="MONDO:Redundant", source="Orphanet:169150"} ! complement deficiency intersection_of: MONDO:0003832 ! complement deficiency @@ -310558,8 +310399,8 @@ synonym: "IL-7Ralpha deficiency" EXACT [] synonym: "interleukin-7 receptor alpha deficiency" RELATED [DOID:0060015] synonym: "T-B+ SCID due to IL-7Ralpha deficiency" EXACT [Orphanet:169154] xref: DOID:0060015 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.2 {source="ORDO:169154/attributed", source="ORDO:169154/ntbt", source="Orphanet:169154"} -xref: OMIM:608971 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", source="ORDO:169154/ntbt", source="Orphanet:169154"} +xref: ICD10CM:D81.2 {source="Orphanet:169154/attributed", source="Orphanet:169154/ntbt", source="Orphanet:169154"} +xref: OMIM:608971 {source="MONDO:subClassOf", source="Orphanet:169154/ntbt", source="MONDO:directSiblingOf", source="Orphanet:169154"} xref: Orphanet:169154 {source="MONDO:equivalentTo"} xref: UMLS:C1837028 {source="MONDO:directSiblingOf", source="Orphanet:169154"} is_a: MONDO:0015974 {source="DOID:0060015", source="MONDO:0015701/inferred", source="Orphanet:169154/inferred"} ! severe combined immunodeficiency @@ -310574,8 +310415,8 @@ subset: ordo_disease {source="Orphanet:169157"} synonym: "CD45 deficiency" EXACT [MONDO:0000574] synonym: "T-B+ SCID due to CD45 deficiency" EXACT [Orphanet:169157] xref: DOID:0060014 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.2 {source="Orphanet:169157", source="ORDO:169157/attributed", source="ORDO:169157/ntbt"} -xref: OMIM:608971 {source="MONDO:subClassOf", source="Orphanet:169157", source="ORDO:169157/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:D81.2 {source="Orphanet:169157", source="Orphanet:169157/attributed", source="Orphanet:169157/ntbt"} +xref: OMIM:608971 {source="MONDO:subClassOf", source="Orphanet:169157", source="Orphanet:169157/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:169157 {source="MONDO:equivalentTo"} xref: UMLS:C1837028 {source="Orphanet:169157", source="MONDO:directSiblingOf"} is_a: MONDO:0015974 {source="DOID:0060014", source="MONDO:0015702/inferred", source="MONDO:Redundant", source="Orphanet:169157/inferred"} ! severe combined immunodeficiency @@ -310588,10 +310429,10 @@ name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta subset: clingen subset: ordo_disease {source="Orphanet:169160"} synonym: "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta" EXACT [Orphanet:169160] -xref: ICD10CM:D81.2 {source="ORDO:169160/attributed", source="ORDO:169160/ntbt", source="Orphanet:169160"} -xref: OMIM:610163 {source="ORDO:169160/btnt", source="MONDO:superClassOf", source="Orphanet:169160"} -xref: OMIM:615615 {source="ORDO:169160/btnt", source="MONDO:superClassOf", source="Orphanet:169160"} -xref: OMIM:615617 {source="ORDO:169160/btnt", source="MONDO:superClassOf", source="Orphanet:169160"} +xref: ICD10CM:D81.2 {source="Orphanet:169160", source="Orphanet:169160/attributed", source="Orphanet:169160/ntbt"} +xref: OMIM:610163 {source="MONDO:superClassOf", source="Orphanet:169160", source="Orphanet:169160/btnt"} +xref: OMIM:615615 {source="MONDO:superClassOf", source="Orphanet:169160", source="Orphanet:169160/btnt"} +xref: OMIM:615617 {source="MONDO:superClassOf", source="Orphanet:169160", source="Orphanet:169160/btnt"} xref: Orphanet:169160 {source="MONDO:equivalentTo"} is_a: MONDO:0044200 {source="Orphanet:169160"} ! T-B+ severe combined immunodeficiency @@ -310600,10 +310441,10 @@ id: MONDO:0015704 name: familial scaphocephaly syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:169163"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="ORDO:169163/attributed", source="ORDO:169163/ntbt", source="Orphanet:169163"} -xref: MedDRA:10072229 {source="ORDO:169163/e", source="Orphanet:169163"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:169163/attributed", source="Orphanet:169163/ntbt", source="Orphanet:169163"} +xref: MedDRA:10072229 {source="Orphanet:169163/e", source="Orphanet:169163"} xref: Orphanet:169163 {source="MONDO:equivalentTo"} -xref: UMLS:C3267076 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:169163/e", source="Orphanet:169163"} +xref: UMLS:C3267076 {source="Orphanet:169163/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169163"} is_a: MONDO:0015338 {source="Orphanet:169163"} ! syndromic craniosynostosis [Term] @@ -310615,12 +310456,12 @@ synonym: "AR-CNM" EXACT [Orphanet:169186] synonym: "centronuclear myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0111216 {source="MONDO:equivalentTo"} xref: GARD:0012718 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="Orphanet:169186", source="ORDO:169186/attributed", source="ORDO:169186/ntbt"} -xref: OMIM:255200 {source="MONDO:superClassOf", source="Orphanet:169186", source="ORDO:169186/btnt"} -xref: OMIM:615959 {source="MONDO:superClassOf", source="Orphanet:169186", source="ORDO:169186/btnt"} +xref: ICD10CM:G71.2 {source="Orphanet:169186/attributed", source="Orphanet:169186/ntbt", source="Orphanet:169186"} +xref: OMIM:255200 {source="MONDO:superClassOf", source="Orphanet:169186/btnt", source="Orphanet:169186"} +xref: OMIM:615959 {source="MONDO:superClassOf", source="Orphanet:169186/btnt", source="Orphanet:169186"} xref: Orphanet:169186 {source="MONDO:equivalentTo"} xref: SCTID:240081004 {source="MONDO:equivalentTo"} -xref: UMLS:C0410204 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169186", source="ORDO:169186/e"} +xref: UMLS:C0410204 {source="Orphanet:169186/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169186"} xref: UMLS:C3645536 {source="MONDO:equivalentTo", source="Orphanet:169186"} is_a: MONDO:0016191 {source="Orphanet:169186"} ! qualitative or quantitative defects of titin is_a: MONDO:0018947 {source="MONDO:Redundant", source="Orphanet:169186", source="linkedlifedata"} ! centronuclear myopathy @@ -310635,7 +310476,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1692"} synonym: "Mosaic trisomy chromosome 1" EXACT [Orphanet:1692] synonym: "Mosaic trisomy type 1" EXACT [MONDORULE:1, Orphanet:1692] synonym: "trisomy 1 mosaicism" EXACT [Orphanet:1692] -xref: ICD10CM:Q92.1 {source="Orphanet:1692", source="ORDO:1692/attributed", source="ORDO:1692/ntbt"} +xref: ICD10CM:Q92.1 {source="Orphanet:1692", source="Orphanet:1692/attributed", source="Orphanet:1692/ntbt"} xref: Orphanet:1692 {source="MONDO:equivalentTo"} xref: UMLS:CN073987 {source="MONDO:equivalentTo"} is_a: MONDO:0020051 {source="Orphanet:1692"} ! total autosomal trisomy @@ -310660,7 +310501,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:169349"} xref: Orphanet:169349 {source="MONDO:equivalentTo"} xref: SCTID:254067002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432218 {source="ORDO:169349/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169349"} +xref: UMLS:C0432218 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169349", source="Orphanet:169349/e"} is_a: MONDO:0015823 {source="Orphanet:169349"} ! primary immunodeficiency due to a defect in adaptive immunity [Term] @@ -310692,7 +310533,7 @@ id: MONDO:0015711 name: obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency predominantly affecting antibody production' subset: ordo_group_of_disorders {source="Orphanet:169443"} -xref: ICD10CM:D80.6 {source="Orphanet:169443", source="ORDO:169443/e", source="ORDO:169443/specific"} +xref: ICD10CM:D80.6 {source="Orphanet:169443", source="Orphanet:169443/e", source="Orphanet:169443/specific"} xref: Orphanet:169443 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -310708,7 +310549,7 @@ synonym: "non-distal duplication 10q" EXACT [Orphanet:1695] synonym: "non-distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:1695] synonym: "non-telomeric trisomy 10q" EXACT [Orphanet:1695] xref: Orphanet:1695 {source="MONDO:equivalentTo"} -xref: UMLS:C2936831 {source="Orphanet:1695", source="ORDO:1695/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2936831 {source="Orphanet:1695", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1695/e"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0016961 {source="Orphanet:1695"} ! partial duplication of the long arm of chromosome 10 relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human) @@ -310719,12 +310560,12 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3492 id: MONDO:0015713 name: idiopathic central precocious puberty subset: ordo_etiological_subtype {source="Orphanet:169615"} -xref: ICD10CM:E22.8 {source="ORDO:169615/attributed", source="ORDO:169615/ntbt", source="Orphanet:169615"} +xref: ICD10CM:E22.8 {source="Orphanet:169615", source="Orphanet:169615/attributed", source="Orphanet:169615/ntbt"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C120372 {source="MONDO:equivalentTo"} xref: Orphanet:169615 {source="MONDO:equivalentTo"} xref: SCTID:237817008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342544 {source="MONDO:equivalentTo", source="ORDO:169615/e", source="Orphanet:169615"} +xref: UMLS:C0342544 {source="MONDO:equivalentTo", source="Orphanet:169615", source="Orphanet:169615/e"} is_a: MONDO:0019165 {source="Orphanet:169615", source="linkedlifedata"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty intersection_of: has_modifier MONDO:0700005 ! idiopathic @@ -310735,7 +310576,7 @@ relationship: excluded_subClassOf MONDO:0016072 {source="Orphanet:169615"} ! ano id: MONDO:0015714 name: secondary central precocious puberty subset: ordo_etiological_subtype {source="Orphanet:169618"} -xref: ICD10CM:E22.8 {source="ORDO:169618/ntbt", source="Orphanet:169618"} +xref: ICD10CM:E22.8 {source="Orphanet:169618", source="Orphanet:169618/ntbt"} xref: Orphanet:169618 {source="MONDO:equivalentTo"} xref: UMLS:CN200226 {source="MONDO:equivalentTo"} is_a: MONDO:0019165 {source="Orphanet:169618"} ! central precocious puberty @@ -310747,7 +310588,7 @@ def: "Severe hemophilia B is a form of hemophilia B characterized by a large def subset: ordo_clinical_subtype {source="Orphanet:169793"} synonym: "severe factor IX deficiency" EXACT [Orphanet:169793] synonym: "severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169793] -xref: ICD10CM:D67 {source="ORDO:169793/attributed", source="ORDO:169793/ntbt", source="Orphanet:169793"} +xref: ICD10CM:D67 {source="Orphanet:169793/attributed", source="Orphanet:169793/ntbt", source="Orphanet:169793"} xref: Orphanet:169793 {source="MONDO:equivalentTo"} xref: UMLS:CN200227 {source="MONDO:equivalentTo"} is_a: MONDO:0010604 {source="Orphanet:169793"} ! hemophilia B @@ -310759,7 +310600,7 @@ def: "Moderately severe hemophilia B is a form of hemophilia B characterized by subset: ordo_clinical_subtype {source="Orphanet:169796"} synonym: "moderately severe factor IX deficiency" EXACT [Orphanet:169796] synonym: "moderately severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169796] -xref: ICD10CM:D67 {source="Orphanet:169796", source="ORDO:169796/attributed", source="ORDO:169796/ntbt"} +xref: ICD10CM:D67 {source="Orphanet:169796/attributed", source="Orphanet:169796/ntbt", source="Orphanet:169796"} xref: Orphanet:169796 {source="MONDO:equivalentTo"} xref: UMLS:CN200228 {source="MONDO:equivalentTo"} is_a: MONDO:0010604 {source="Orphanet:169796"} ! hemophilia B @@ -310771,7 +310612,7 @@ def: "Mild hemophilia B is a form of hemophilia B characterized by a small defic subset: ordo_clinical_subtype {source="Orphanet:169799"} synonym: "mild factor IX deficiency" EXACT [Orphanet:169799] synonym: "mild hemophilia type B" EXACT [MONDORULE:1, Orphanet:169799] -xref: ICD10CM:D67 {source="Orphanet:169799", source="ORDO:169799/attributed", source="ORDO:169799/ntbt"} +xref: ICD10CM:D67 {source="Orphanet:169799/attributed", source="Orphanet:169799/ntbt", source="Orphanet:169799"} xref: Orphanet:169799 {source="MONDO:equivalentTo"} xref: UMLS:CN200229 {source="MONDO:equivalentTo"} is_a: MONDO:0010604 {source="Orphanet:169799"} ! hemophilia B @@ -310786,7 +310627,7 @@ synonym: "Mosaic trisomy chromosome 12" EXACT [Orphanet:1698] synonym: "Mosaic trisomy type 12" EXACT [MONDORULE:2, Orphanet:1698] synonym: "trisomy 12 mosaicism" EXACT [Orphanet:1698] xref: GARD:0005304 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="ORDO:1698/attributed", source="ORDO:1698/ntbt", source="Orphanet:1698"} +xref: ICD10CM:Q92.1 {source="Orphanet:1698", source="Orphanet:1698/attributed", source="Orphanet:1698/ntbt"} xref: Orphanet:1698 {source="MONDO:equivalentTo"} xref: SCTID:764463001 {source="MONDO:equivalentTo"} xref: UMLS:CN073989 {source="MONDO:equivalentTo"} @@ -310803,10 +310644,10 @@ def: "Severe hemophilia A is a form of hemophilia A characterized by a large def subset: ordo_clinical_subtype {source="Orphanet:169802"} synonym: "severe factor VIII deficiency" EXACT [Orphanet:169802] synonym: "severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169802] -xref: ICD10CM:D66 {source="ORDO:169802/attributed", source="ORDO:169802/ntbt", source="Orphanet:169802"} +xref: ICD10CM:D66 {source="Orphanet:169802", source="Orphanet:169802/attributed", source="Orphanet:169802/ntbt"} xref: Orphanet:169802 {source="MONDO:equivalentTo"} xref: SCTID:16872008 {source="MONDO:equivalentTo"} -xref: UMLS:C0272322 {source="MONDO:equivalentTo", source="ORDO:169802/e", source="Orphanet:169802"} +xref: UMLS:C0272322 {source="MONDO:equivalentTo", source="Orphanet:169802", source="Orphanet:169802/e"} is_a: MONDO:0010602 {source="Orphanet:169802", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemophilia A [Term] @@ -310816,7 +310657,7 @@ def: "Moderately severe hemophilia A is a form of hemophilia A characterized by subset: ordo_clinical_subtype {source="Orphanet:169805"} synonym: "moderately severe factor VIII deficiency" EXACT [Orphanet:169805] synonym: "moderately severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169805] -xref: ICD10CM:D66 {source="ORDO:169805/attributed", source="ORDO:169805/ntbt", source="Orphanet:169805"} +xref: ICD10CM:D66 {source="Orphanet:169805", source="Orphanet:169805/attributed", source="Orphanet:169805/ntbt"} xref: Orphanet:169805 {source="MONDO:equivalentTo"} xref: UMLS:CN200231 {source="MONDO:equivalentTo"} is_a: MONDO:0010602 {source="Orphanet:169805"} ! hemophilia A @@ -310828,10 +310669,10 @@ def: "Mild hemophilia A is a form of hemophilia A characterized by a small defic subset: ordo_clinical_subtype {source="Orphanet:169808"} synonym: "mild factor VIII deficiency" EXACT [Orphanet:169808] synonym: "mild hemophilia type A" EXACT [MONDORULE:1, Orphanet:169808] -xref: ICD10CM:D66 {source="ORDO:169808/attributed", source="ORDO:169808/ntbt", source="Orphanet:169808"} +xref: ICD10CM:D66 {source="Orphanet:169808/attributed", source="Orphanet:169808/ntbt", source="Orphanet:169808"} xref: Orphanet:169808 {source="MONDO:equivalentTo"} xref: SCTID:26029002 {source="MONDO:equivalentTo"} -xref: UMLS:C0272324 {source="MONDO:equivalentTo", source="ORDO:169808/e", source="Orphanet:169808"} +xref: UMLS:C0272324 {source="Orphanet:169808/e", source="MONDO:equivalentTo", source="Orphanet:169808"} is_a: MONDO:0010602 {source="Orphanet:169808", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemophilia A [Term] @@ -310842,7 +310683,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:169826"} synonym: "congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [OMIMPS:277450] synonym: "vitamin K-dependent clotting factors, combined deficiency of" EXACT [OMIMPS:277450] -xref: ICD10CM:D68.2 {source="ORDO:169826/attributed", source="ORDO:169826/ntbt", source="Orphanet:169826"} +xref: ICD10CM:D68.2 {source="Orphanet:169826/attributed", source="Orphanet:169826/ntbt", source="Orphanet:169826"} xref: OMIMPS:277450 {source="MONDO:equivalentTo"} xref: Orphanet:169826 {source="MONDO:equivalentTo"} xref: Orphanet:98434 {source="MONDO:cjm", source="MONDO:superClassOf"} @@ -310895,13 +310736,13 @@ synonym: "Mosaic trisomy chromosome 14" RELATED [GARD:0001327] synonym: "Mosaic trisomy type 14" EXACT [MONDORULE:2, Orphanet:1703] synonym: "trisomy 14 mosaicism" RELATED [GARD:0001327] xref: GARD:0001327 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="ORDO:1703/attributed", source="ORDO:1703/ntbt", source="Orphanet:1703"} -xref: MESH:C535489 {source="MONDO:equivalentTo", source="Orphanet:1703", source="ORDO:1703/e"} +xref: ICD10CM:Q92.1 {source="Orphanet:1703", source="Orphanet:1703/attributed", source="Orphanet:1703/ntbt"} +xref: MESH:C535489 {source="Orphanet:1703/e", source="MONDO:equivalentTo", source="Orphanet:1703"} xref: NCIT:C116319 {source="MONDO:equivalentTo"} xref: Orphanet:1703 {source="MONDO:equivalentTo"} xref: SCTID:764466009 {source="MONDO:equivalentTo"} xref: UMLS:C0795851 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1703"} -xref: UMLS:C2930917 {source="MONDO:equivalentTo", source="Orphanet:1703", source="ORDO:1703/e"} +xref: UMLS:C2930917 {source="Orphanet:1703/e", source="MONDO:equivalentTo", source="Orphanet:1703"} is_a: MONDO:0020051 {source="Orphanet:1703"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy intersection_of: disease_arises_from_structure CHR:9606-chr14 ! chromosome 14 (Human) @@ -310917,9 +310758,9 @@ synonym: "distal duplication 14q" EXACT [Orphanet:1705] synonym: "distal trisomy type 14q" EXACT [MONDORULE:4, Orphanet:1705] synonym: "telomeric duplication 14q" EXACT [Orphanet:1705] synonym: "trisomy 14qter" EXACT [Orphanet:1705] -xref: MESH:C538034 {source="MONDO:equivalentTo", source="Orphanet:1705", source="ORDO:1705/e"} +xref: MESH:C538034 {source="Orphanet:1705/e", source="MONDO:equivalentTo", source="Orphanet:1705"} xref: Orphanet:1705 {source="MONDO:equivalentTo"} -xref: UMLS:C2931702 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1705", source="ORDO:1705/e"} +xref: UMLS:C2931702 {source="Orphanet:1705/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1705"} xref: UMLS:CN036934 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0016964 {source="Orphanet:1705"} ! partial duplication of the long arm of chromosome 14 @@ -310937,11 +310778,11 @@ synonym: "Mosaic trisomy chromosome 15" EXACT [Orphanet:1706] synonym: "Mosaic trisomy type 15" EXACT [MONDORULE:2, Orphanet:1706] synonym: "trisomy 15 mosaicism" EXACT [Orphanet:1706] xref: GARD:0005313 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.1 {source="ORDO:1706/attributed", source="ORDO:1706/ntbt", source="Orphanet:1706"} -xref: MESH:C538037 {source="MONDO:equivalentTo", source="ORDO:1706/e", source="Orphanet:1706"} +xref: ICD10CM:Q92.1 {source="Orphanet:1706/attributed", source="Orphanet:1706/ntbt", source="Orphanet:1706"} +xref: MESH:C538037 {source="Orphanet:1706/e", source="MONDO:equivalentTo", source="Orphanet:1706"} xref: Orphanet:1706 {source="MONDO:equivalentTo"} xref: SCTID:764619001 {source="MONDO:equivalentTo"} -xref: UMLS:C2931707 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1706/e", source="Orphanet:1706"} +xref: UMLS:C2931707 {source="Orphanet:1706/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1706"} xref: UMLS:CN035788 {source="MONDO:equivalentTo"} is_a: MONDO:0020051 {source="Orphanet:1706"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy @@ -310957,9 +310798,9 @@ synonym: "distal duplication 15q" EXACT [Orphanet:1707] synonym: "distal trisomy type 15q" EXACT [MONDORULE:4, Orphanet:1707] synonym: "telomeric duplication 15q" EXACT [Orphanet:1707] synonym: "trisomy 15qter" EXACT [Orphanet:1707] -xref: MESH:C538036 {source="MONDO:equivalentTo", source="Orphanet:1707", source="ORDO:1707/e"} +xref: MESH:C538036 {source="Orphanet:1707/e", source="MONDO:equivalentTo", source="Orphanet:1707"} xref: Orphanet:1707 {source="MONDO:equivalentTo"} -xref: UMLS:C2931705 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1707", source="ORDO:1707/e"} +xref: UMLS:C2931705 {source="Orphanet:1707/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1707"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0017806 {source="Orphanet:1707"} ! 15q overgrowth syndrome relationship: disease_arises_from_structure CHR:9606-chr15q {source="https://orcid.org/0000-0002-4142-7153"} ! 15q (Human) @@ -310973,7 +310814,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1708"} synonym: "Mosaic trisomy chromosome 16" EXACT [Orphanet:1708] synonym: "Mosaic trisomy type 16" EXACT [MONDORULE:2, Orphanet:1708] synonym: "trisomy 16 mosaicism" EXACT [Orphanet:1708] -xref: ICD10CM:Q92.1 {source="Orphanet:1708", source="ORDO:1708/attributed", source="ORDO:1708/ntbt"} +xref: ICD10CM:Q92.1 {source="Orphanet:1708", source="Orphanet:1708/attributed", source="Orphanet:1708/ntbt"} xref: MESH:C538041 {source="MONDO:equivalentTo"} xref: Orphanet:1708 {source="MONDO:equivalentTo"} xref: SCTID:764621006 {source="MONDO:equivalentTo"} @@ -310998,7 +310839,7 @@ synonym: "Mosaic trisomy type 17" EXACT [MONDORULE:2, Orphanet:1711] synonym: "trisomy 17" RELATED [GARD:0005317] synonym: "trisomy 17 mosaicism" EXACT [Orphanet:1711] xref: GARD:0005317 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.1 {source="ORDO:1711/attributed", source="ORDO:1711/ntbt", source="Orphanet:1711"} +xref: ICD10CM:Q92.1 {source="Orphanet:1711", source="Orphanet:1711/attributed", source="Orphanet:1711/ntbt"} xref: MESH:C538044 {source="MONDO:equivalentTo"} xref: NCIT:C37865 {source="MONDO:equivalentTo"} xref: Orphanet:1711 {source="MONDO:equivalentTo"} @@ -311015,12 +310856,12 @@ id: MONDO:0015731 name: high anorectal malformation def: "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." [Orphanet:171201] subset: ordo_clinical_subtype {source="Orphanet:171201"} -xref: ICD10CM:Q42.0 {source="ORDO:171201/attributed", source="ORDO:171201/ntbt", source="Orphanet:171201"} -xref: ICD10CM:Q42.1 {source="ORDO:171201/attributed", source="ORDO:171201/ntbt", source="Orphanet:171201"} +xref: ICD10CM:Q42.0 {source="Orphanet:171201/attributed", source="Orphanet:171201/ntbt", source="Orphanet:171201"} +xref: ICD10CM:Q42.1 {source="Orphanet:171201/attributed", source="Orphanet:171201/ntbt", source="Orphanet:171201"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:171201 {source="MONDO:equivalentTo"} xref: SCTID:253771003 {source="MONDO:equivalentTo"} -xref: UMLS:C0345210 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:171201/e", source="Orphanet:171201"} +xref: UMLS:C0345210 {source="Orphanet:171201/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:171201"} is_a: MONDO:0018916 {source="Orphanet:171201"} ! isolated anorectal malformation [Term] @@ -311028,8 +310869,8 @@ id: MONDO:0015732 name: intermediate anorectal malformation def: "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." [Orphanet:171208] subset: ordo_clinical_subtype {source="Orphanet:171208"} -xref: ICD10CM:Q42.0 {source="Orphanet:171208", source="ORDO:171208/attributed", source="ORDO:171208/ntbt"} -xref: ICD10CM:Q42.1 {source="Orphanet:171208", source="ORDO:171208/attributed", source="ORDO:171208/ntbt"} +xref: ICD10CM:Q42.0 {source="Orphanet:171208", source="Orphanet:171208/attributed", source="Orphanet:171208/ntbt"} +xref: ICD10CM:Q42.1 {source="Orphanet:171208", source="Orphanet:171208/attributed", source="Orphanet:171208/ntbt"} xref: Orphanet:171208 {source="MONDO:equivalentTo"} xref: SCTID:734024009 {source="MONDO:equivalentTo"} is_a: MONDO:0018916 {source="Orphanet:171208"} ! isolated anorectal malformation @@ -311039,13 +310880,13 @@ id: MONDO:0015733 name: low anorectal malformation def: "Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation." [Orphanet:171215] subset: ordo_clinical_subtype {source="Orphanet:171215"} -xref: ICD10CM:Q42.2 {source="ORDO:171215/specific", source="Orphanet:171215", source="ORDO:171215/btnt"} -xref: ICD10CM:Q42.3 {source="ORDO:171215/specific", source="Orphanet:171215", source="ORDO:171215/btnt"} +xref: ICD10CM:Q42.2 {source="Orphanet:171215/specific", source="Orphanet:171215/btnt", source="Orphanet:171215"} +xref: ICD10CM:Q42.3 {source="Orphanet:171215/specific", source="Orphanet:171215/btnt", source="Orphanet:171215"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C98975 {source="MONDO:equivalentTo"} xref: Orphanet:171215 {source="MONDO:equivalentTo"} xref: SCTID:253772005 {source="MONDO:equivalentTo"} -xref: UMLS:C0345218 {source="MONDO:equivalentTo", source="Orphanet:171215", source="ORDO:171215/e", source="NCIT:C98975"} +xref: UMLS:C0345218 {source="Orphanet:171215/e", source="MONDO:equivalentTo", source="Orphanet:171215", source="NCIT:C98975"} is_a: MONDO:0018916 {source="Orphanet:171215"} ! isolated anorectal malformation [Term] @@ -311053,7 +310894,7 @@ id: MONDO:0015734 name: rectal duplication def: "Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum." [Orphanet:171220] subset: ordo_morphological_anomaly {source="Orphanet:171220"} -xref: ICD10CM:Q43.4 {source="ORDO:171220/attributed", source="ORDO:171220/ntbt", source="Orphanet:171220"} +xref: ICD10CM:Q43.4 {source="Orphanet:171220", source="Orphanet:171220/attributed", source="Orphanet:171220/ntbt"} xref: Orphanet:171220 {source="MONDO:equivalentTo"} xref: SCTID:725910009 {source="MONDO:equivalentTo"} is_a: MONDO:0019938 {source="Orphanet:171220"} ! anorectal malformation @@ -311067,12 +310908,12 @@ subset: gard_rare {source="GARD:0012821"} subset: ordo_disease {source="Orphanet:171430"} synonym: "severe congenital (neonatal) NM" RELATED [GARD:0012821] xref: GARD:0012821 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:171430/attributed", source="ORDO:171430/ntbt", source="Orphanet:171430"} -xref: OMIM:161800 {source="ORDO:171430/btnt", source="MONDO:superClassOf", source="Orphanet:171430"} -xref: OMIM:256030 {source="ORDO:171430/btnt", source="MONDO:superClassOf", source="Orphanet:171430"} -xref: OMIM:615348 {source="ORDO:171430/btnt", source="MONDO:superClassOf", source="Orphanet:171430"} -xref: OMIM:615731 {source="ORDO:171430/btnt", source="MONDO:superClassOf", source="Orphanet:171430"} -xref: OMIM:616165 {source="ORDO:171430/btnt", source="MONDO:superClassOf", source="Orphanet:171430"} +xref: ICD10CM:G71.2 {source="Orphanet:171430", source="Orphanet:171430/attributed", source="Orphanet:171430/ntbt"} +xref: OMIM:161800 {source="MONDO:superClassOf", source="Orphanet:171430", source="Orphanet:171430/btnt"} +xref: OMIM:256030 {source="MONDO:superClassOf", source="Orphanet:171430", source="Orphanet:171430/btnt"} +xref: OMIM:615348 {source="MONDO:superClassOf", source="Orphanet:171430", source="Orphanet:171430/btnt"} +xref: OMIM:615731 {source="MONDO:superClassOf", source="Orphanet:171430", source="Orphanet:171430/btnt"} +xref: OMIM:616165 {source="MONDO:superClassOf", source="Orphanet:171430", source="Orphanet:171430/btnt"} xref: Orphanet:171430 {source="MONDO:equivalentTo"} is_a: MONDO:0016193 {source="Orphanet:171430"} ! qualitative or quantitative defects of alpha-actin is_a: MONDO:0016194 {source="Orphanet:171430"} ! qualitative or quantitative defects of nebulin @@ -311090,11 +310931,11 @@ subset: ordo_disease {source="Orphanet:171433"} synonym: "Intermediate congenital nemaline myopathy" RELATED [GARD:0012823] synonym: "Intermediate congenital NM" RELATED [GARD:0012823] xref: GARD:0012823 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="ORDO:171433/attributed", source="ORDO:171433/ntbt", source="Orphanet:171433"} -xref: OMIM:161800 {source="ORDO:171433/btnt", source="MONDO:superClassOf", source="Orphanet:171433"} -xref: OMIM:256030 {source="ORDO:171433/btnt", source="MONDO:superClassOf", source="Orphanet:171433"} -xref: OMIM:609284 {source="ORDO:171433/btnt", source="MONDO:superClassOf", source="Orphanet:171433"} -xref: OMIM:615731 {source="ORDO:171433/btnt", source="MONDO:superClassOf", source="Orphanet:171433"} +xref: ICD10CM:G71.2 {source="Orphanet:171433", source="Orphanet:171433/attributed", source="Orphanet:171433/ntbt"} +xref: OMIM:161800 {source="MONDO:superClassOf", source="Orphanet:171433", source="Orphanet:171433/btnt"} +xref: OMIM:256030 {source="MONDO:superClassOf", source="Orphanet:171433", source="Orphanet:171433/btnt"} +xref: OMIM:609284 {source="MONDO:superClassOf", source="Orphanet:171433", source="Orphanet:171433/btnt"} +xref: OMIM:615731 {source="MONDO:superClassOf", source="Orphanet:171433", source="Orphanet:171433/btnt"} xref: Orphanet:171433 {source="MONDO:equivalentTo"} is_a: MONDO:0016193 {source="Orphanet:171433"} ! qualitative or quantitative defects of alpha-actin is_a: MONDO:0016194 {source="Orphanet:171433"} ! qualitative or quantitative defects of nebulin @@ -311109,13 +310950,13 @@ def: "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy subset: ordo_disease {source="Orphanet:171436"} synonym: "typical congenital nemaline myopathy" RELATED [GARD:0012822] xref: GARD:0012822 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="ORDO:171436/attributed", source="ORDO:171436/ntbt", source="Orphanet:171436"} -xref: OMIM:161800 {source="MONDO:superClassOf", source="ORDO:171436/btnt", source="Orphanet:171436"} -xref: OMIM:256030 {source="MONDO:superClassOf", source="ORDO:171436/btnt", source="Orphanet:171436"} -xref: OMIM:609285 {source="MONDO:superClassOf", source="ORDO:171436/btnt", source="Orphanet:171436"} -xref: OMIM:610687 {source="MONDO:superClassOf", source="ORDO:171436/btnt", source="Orphanet:171436"} -xref: OMIM:615731 {source="MONDO:superClassOf", source="ORDO:171436/btnt", source="Orphanet:171436"} -xref: OMIM:616165 {source="MONDO:superClassOf", source="ORDO:171436/btnt", source="Orphanet:171436"} +xref: ICD10CM:G71.2 {source="Orphanet:171436/attributed", source="Orphanet:171436/ntbt", source="Orphanet:171436"} +xref: OMIM:161800 {source="Orphanet:171436/btnt", source="MONDO:superClassOf", source="Orphanet:171436"} +xref: OMIM:256030 {source="Orphanet:171436/btnt", source="MONDO:superClassOf", source="Orphanet:171436"} +xref: OMIM:609285 {source="Orphanet:171436/btnt", source="MONDO:superClassOf", source="Orphanet:171436"} +xref: OMIM:610687 {source="Orphanet:171436/btnt", source="MONDO:superClassOf", source="Orphanet:171436"} +xref: OMIM:615731 {source="Orphanet:171436/btnt", source="MONDO:superClassOf", source="Orphanet:171436"} +xref: OMIM:616165 {source="Orphanet:171436/btnt", source="MONDO:superClassOf", source="Orphanet:171436"} xref: Orphanet:171436 {source="MONDO:equivalentTo"} is_a: MONDO:0016193 {source="Orphanet:171436"} ! qualitative or quantitative defects of alpha-actin is_a: MONDO:0016194 {source="Orphanet:171436"} ! qualitative or quantitative defects of nebulin @@ -311131,13 +310972,13 @@ subset: gard_rare {source="GARD:0007171"} subset: ordo_disease {source="Orphanet:171439"} synonym: "mild nemaline myopathy" EXACT [Orphanet:171439] xref: GARD:0007171 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:171439", source="ORDO:171439/attributed", source="ORDO:171439/ntbt"} -xref: OMIM:161800 {source="Orphanet:171439", source="MONDO:superClassOf", source="ORDO:171439/btnt"} -xref: OMIM:256030 {source="Orphanet:171439", source="MONDO:superClassOf", source="ORDO:171439/btnt"} -xref: OMIM:609273 {source="Orphanet:171439", source="MONDO:superClassOf", source="ORDO:171439/btnt"} -xref: OMIM:609284 {source="Orphanet:171439", source="MONDO:superClassOf", source="ORDO:171439/btnt"} -xref: OMIM:609285 {source="Orphanet:171439", source="MONDO:superClassOf", source="ORDO:171439/btnt"} -xref: OMIM:615731 {source="Orphanet:171439", source="MONDO:superClassOf", source="ORDO:171439/btnt"} +xref: ICD10CM:G71.2 {source="Orphanet:171439", source="Orphanet:171439/attributed", source="Orphanet:171439/ntbt"} +xref: OMIM:161800 {source="Orphanet:171439", source="Orphanet:171439/btnt", source="MONDO:superClassOf"} +xref: OMIM:256030 {source="Orphanet:171439", source="Orphanet:171439/btnt", source="MONDO:superClassOf"} +xref: OMIM:609273 {source="Orphanet:171439", source="Orphanet:171439/btnt", source="MONDO:superClassOf"} +xref: OMIM:609284 {source="Orphanet:171439", source="Orphanet:171439/btnt", source="MONDO:superClassOf"} +xref: OMIM:609285 {source="Orphanet:171439", source="Orphanet:171439/btnt", source="MONDO:superClassOf"} +xref: OMIM:615731 {source="Orphanet:171439", source="Orphanet:171439/btnt", source="MONDO:superClassOf"} xref: Orphanet:171439 {source="MONDO:equivalentTo"} xref: UMLS:C0546125 {source="Orphanet:171439", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016193 {source="Orphanet:171439"} ! qualitative or quantitative defects of alpha-actin @@ -311155,9 +310996,9 @@ def: "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline my subset: gard_rare {source="GARD:0012824"} subset: ordo_disease {source="Orphanet:171442"} xref: GARD:0012824 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:171442/attributed", source="ORDO:171442/ntbt", source="Orphanet:171442"} +xref: ICD10CM:G71.2 {source="Orphanet:171442", source="Orphanet:171442/attributed", source="Orphanet:171442/ntbt"} xref: Orphanet:171442 {source="MONDO:equivalentTo"} -xref: UMLS:C0546123 {source="MONDO:equivalentTo", source="Orphanet:171442", source="ORDO:171442/e"} +xref: UMLS:C0546123 {source="MONDO:equivalentTo", source="Orphanet:171442", source="Orphanet:171442/e"} is_a: MONDO:0016193 {source="Orphanet:171442"} ! qualitative or quantitative defects of alpha-actin is_a: MONDO:0016194 {source="Orphanet:171442"} ! qualitative or quantitative defects of nebulin is_a: MONDO:0018958 {source="Orphanet:171442"} ! nemaline myopathy @@ -311179,10 +311020,10 @@ synonym: "partial trisomy 18p" RELATED [GARD:0005323] synonym: "trisomy of the short arm of chromosome 18" EXACT [Orphanet:1715] synonym: "trisomy type 18p" EXACT [MONDORULE:4, Orphanet:1715] xref: GARD:0005323 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.2 {source="ORDO:1715/attributed", source="ORDO:1715/ntbt", source="Orphanet:1715"} -xref: MESH:C538307 {source="MONDO:equivalentTo", source="ORDO:1715/e", source="Orphanet:1715"} +xref: ICD10CM:Q92.2 {source="Orphanet:1715/attributed", source="Orphanet:1715/ntbt", source="Orphanet:1715"} +xref: MESH:C538307 {source="Orphanet:1715/e", source="MONDO:equivalentTo", source="Orphanet:1715"} xref: Orphanet:1715 {source="MONDO:equivalentTo"} -xref: UMLS:C2931811 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:1715/e", source="Orphanet:1715"} +xref: UMLS:C2931811 {source="Orphanet:1715/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1715"} is_a: MONDO:0016951 {source="Orphanet:1715"} ! partial trisomy/tetrasomy of the short arm of chromosome 18 relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orcid.org/0000-0002-4142-7153"} ! 18p (Human) @@ -311213,12 +311054,12 @@ xref: GARD:0010285 {source="MONDO:equivalentTo"} xref: ICD10CM:P91.2 {source="DOID:13088"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:779.7 {source="MONDO:equivalentTo", source="DOID:13088", source="i2s"} -xref: MedDRA:10052594 {source="EFO:1001101", source="ORDO:171676/e", source="Orphanet:171676"} -xref: MESH:D007969 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088", source="ORDO:171676/e", source="Orphanet:171676"} +xref: MedDRA:10052594 {source="Orphanet:171676/e", source="EFO:1001101", source="Orphanet:171676"} +xref: MESH:D007969 {source="Orphanet:171676/e", source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088", source="Orphanet:171676"} xref: NCIT:C99013 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088"} xref: Orphanet:171676 {source="MONDO:equivalentTo"} xref: SCTID:230769007 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088"} -xref: UMLS:C0023529 {source="MONDO:equivalentTo", source="DOID:13088", source="NCIT:C99013", source="ORDO:171676/e", source="Orphanet:171676"} +xref: UMLS:C0023529 {source="Orphanet:171676/e", source="MONDO:equivalentTo", source="DOID:13088", source="NCIT:C99013", source="Orphanet:171676"} is_a: MONDO:0005071 {source="Orphanet:171676"} ! nervous system disorder is_a: MONDO:0006741 {source="DOID:13088", source="MESH:D007969", source="NCIT:C99013"} ! encephalomalacia relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare @@ -311229,7 +311070,7 @@ id: MONDO:0015743 name: idiopathic bilateral vestibulopathy def: "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." [Orphanet:171684] subset: ordo_disease {source="Orphanet:171684"} -xref: ICD10CM:H81.8 {source="ORDO:171684/ntbt", source="Orphanet:171684"} +xref: ICD10CM:H81.8 {source="Orphanet:171684", source="Orphanet:171684/ntbt"} xref: Orphanet:171684 {source="MONDO:equivalentTo"} xref: SCTID:737580004 {source="MONDO:equivalentTo"} xref: UMLS:C4545229 {source="MONDO:equivalentTo"} @@ -311258,7 +311099,7 @@ id: MONDO:0015745 name: microcephaly-polymicrogyria-corpus callosum agenesis syndrome def: "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." [Orphanet:171703] subset: ordo_malformation_syndrome {source="Orphanet:171703"} -xref: ICD10CM:Q04.3 {source="Orphanet:171703", source="ORDO:171703/attributed", source="ORDO:171703/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:171703", source="Orphanet:171703/attributed", source="Orphanet:171703/ntbt"} xref: Orphanet:171703 {source="MONDO:equivalentTo"} xref: UMLS:CN200295 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:171703"} ! syndromic intellectual disability @@ -311278,9 +311119,9 @@ synonym: "male infertility due to round-headed spermatozoa" EXACT [DOID:0111156, synonym: "round-headed sperm syndrome" EXACT [Orphanet:171709] xref: DOID:0111156 {source="MONDO:equivalentTo"} xref: GARD:0012502 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:171709/attributed", source="ORDO:171709/ntbt", source="Orphanet:171709"} -xref: OMIM:102530 {source="ORDO:171709/btnt", source="Orphanet:171709", source="MONDO:superClassOf"} -xref: OMIM:613958 {source="ORDO:171709/btnt", source="Orphanet:171709", source="MONDO:superClassOf"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:171709", source="Orphanet:171709/attributed", source="Orphanet:171709/ntbt"} +xref: OMIM:102530 {source="Orphanet:171709", source="MONDO:superClassOf", source="Orphanet:171709/btnt"} +xref: OMIM:613958 {source="Orphanet:171709", source="MONDO:superClassOf", source="Orphanet:171709/btnt"} xref: Orphanet:171709 {source="MONDO:equivalentTo", source="DOID:0111156"} is_a: MONDO:0005372 {source="DOID:0111156", source="indirect"} ! male infertility is_a: MONDO:0018394 {source="Orphanet:171709"} ! male infertility with teratozoospermia due to single gene mutation @@ -311304,12 +311145,12 @@ synonym: "White sponge nevus of Cannon" EXACT [Orphanet:171723] synonym: "white sponge nevus of Cannon" EXACT [DOID:0050448] xref: DOID:0050448 {source="MONDO:equivalentTo"} xref: GARD:0008501 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q38.6 {source="ORDO:171723/index", source="ORDO:171723/ntbt", source="Orphanet:171723"} +xref: ICD10CM:Q38.6 {source="Orphanet:171723/index", source="Orphanet:171723/ntbt", source="Orphanet:171723"} xref: ICD9:528.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D053529 {source="MONDO:equivalentTo", source="DOID:0050448"} xref: NCIT:C84760 {source="MONDO:equivalentTo", source="DOID:0050448"} -xref: OMIM:193900 {source="MONDO:superClassOf", source="DOID:0050448", source="Orphanet:171723", source="ORDO:171723/e"} -xref: OMIM:615785 {source="MONDO:superClassOf", source="DOID:0050448", source="ORDO:171723/btnt", source="Orphanet:171723"} +xref: OMIM:193900 {source="Orphanet:171723/e", source="MONDO:superClassOf", source="DOID:0050448", source="Orphanet:171723"} +xref: OMIM:615785 {source="MONDO:superClassOf", source="Orphanet:171723/btnt", source="DOID:0050448", source="Orphanet:171723"} xref: OMIMPS:193900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:171723 {source="MONDO:equivalentTo", source="DOID:0050448"} xref: SCTID:389203001 {source="MONDO:equivalentTo", source="DOID:0050448"} @@ -311329,7 +311170,7 @@ subset: ordo_clinical_subtype {source="Orphanet:171829"} synonym: "Del(6)(q16)" EXACT [Orphanet:171829] synonym: "monosomy 6q16" EXACT [Orphanet:171829] synonym: "Prader-Willi-like syndrome due to deletion 6q16" EXACT [Orphanet:171829] -xref: ICD10CM:Q93.5 {source="ORDO:171829/attributed", source="ORDO:171829/ntbt", source="Orphanet:171829"} +xref: ICD10CM:Q93.5 {source="Orphanet:171829", source="Orphanet:171829/attributed", source="Orphanet:171829/ntbt"} xref: Orphanet:171829 {source="MONDO:equivalentTo"} xref: UMLS:CN200301 {source="MONDO:equivalentTo"} is_a: MONDO:0016905 {source="Orphanet:171829"} ! partial deletion of the long arm of chromosome 6 @@ -311355,7 +311196,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:171839"} synonym: "Berant syndrome" EXACT [Orphanet:171839] synonym: "Capra-DeMarco syndrome" EXACT [Orphanet:171839] synonym: "familial scaphocephaly-radioulnar synostosis syndrome" EXACT [Orphanet:171839] -xref: ICD10CM:Q87.8 {source="Orphanet:171839", source="ORDO:171839/attributed", source="ORDO:171839/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:171839/attributed", source="Orphanet:171839/ntbt", source="Orphanet:171839"} xref: Orphanet:171839 {source="MONDO:equivalentTo"} xref: SCTID:720815000 {source="MONDO:equivalentTo"} xref: UMLS:C3267187 {source="Orphanet:171839", source="MONDO:equivalentTo"} @@ -311381,10 +311222,10 @@ subset: ordo_disease {source="Orphanet:171881"} synonym: "Cap disease" EXACT [Orphanet:171881] synonym: "congenital myopathy with caps" RELATED [GARD:0011915] xref: GARD:0011915 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:171881/attributed", source="ORDO:171881/ntbt", source="Orphanet:171881"} +xref: ICD10CM:G71.2 {source="Orphanet:171881", source="Orphanet:171881/attributed", source="Orphanet:171881/ntbt"} xref: MESH:C579969 {source="MONDO:equivalentTo"} -xref: OMIM:609284 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:171881/ntbt", source="Orphanet:171881"} -xref: OMIM:609285 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:171881/ntbt", source="Orphanet:171881"} +xref: OMIM:609284 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:171881", source="Orphanet:171881/ntbt"} +xref: OMIM:609285 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:171881", source="Orphanet:171881/ntbt"} xref: Orphanet:171881 {source="MONDO:equivalentTo"} xref: SCTID:703532002 {source="MONDO:equivalentTo"} xref: UMLS:C3710589 {source="MONDO:equivalentTo", source="Orphanet:171881"} @@ -311405,7 +311246,7 @@ id: MONDO:0015755 name: myopathy with hexagonally cross-linked tubular arrays def: "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." [Orphanet:171889] subset: ordo_disease {source="Orphanet:171889"} -xref: ICD10CM:G71.2 {source="Orphanet:171889", source="ORDO:171889/attributed", source="ORDO:171889/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:171889", source="Orphanet:171889/attributed", source="Orphanet:171889/ntbt"} xref: Orphanet:171889 {source="MONDO:equivalentTo"} xref: SCTID:764994007 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:171889"} ! congenital myopathy @@ -311432,10 +311273,10 @@ name: primary cutaneous T-cell lymphoma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:171901"} xref: GARD:0006226 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MedDRA:10011677 {source="Orphanet:171901", source="ORDO:171901/e"} -xref: MESH:D016410 {source="Orphanet:171901", source="ORDO:171901/e", source="MONDO:directSiblingOf"} +xref: MedDRA:10011677 {source="Orphanet:171901", source="Orphanet:171901/e"} +xref: MESH:D016410 {source="Orphanet:171901", source="Orphanet:171901/e", source="MONDO:directSiblingOf"} xref: Orphanet:171901 {source="MONDO:equivalentTo"} -xref: UMLS:C0079773 {source="Orphanet:171901", source="ORDO:171901/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0079773 {source="Orphanet:171901", source="Orphanet:171901/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015760 {source="Orphanet:171901"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0018898 {source="Orphanet:171901"} ! primary cutaneous lymphoma @@ -311475,12 +311316,12 @@ synonym: "T-cell NHL" EXACT [Orphanet:171918] synonym: "T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466] synonym: "T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466] xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10042971 {source="Orphanet:171918", source="ORDO:171918/e"} +xref: MedDRA:10042971 {source="Orphanet:171918", source="Orphanet:171918/e"} xref: MESH:D016399 {source="MONDO:equivalentTo"} xref: NCIT:C3466 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:171918 {source="MONDO:equivalentTo"} xref: SCTID:109978004 {source="MONDO:equivalentTo"} -xref: UMLS:C0079772 {source="MONDO:equivalentTo", source="Orphanet:171918", source="ORDO:171918/e", source="NCIT:C3466"} +xref: UMLS:C0079772 {source="MONDO:equivalentTo", source="Orphanet:171918", source="NCIT:C3466", source="Orphanet:171918/e"} is_a: MONDO:0018908 {source="MESH:D016399", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma relationship: disease_arises_from_structure CL:0000084 ! T cell @@ -311496,11 +311337,11 @@ synonym: "Duplication 10p" RELATED [GARD:0005299] synonym: "partial trisomy 10p" RELATED [GARD:0005299] synonym: "trisomy type 10p" EXACT [MONDORULE:4, Orphanet:171929] xref: GARD:0005299 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.2 {source="ORDO:171929/attributed", source="ORDO:171929/ntbt", source="Orphanet:171929"} +xref: ICD10CM:Q92.2 {source="Orphanet:171929", source="Orphanet:171929/attributed", source="Orphanet:171929/ntbt"} xref: MESH:C538290 {source="MONDO:equivalentTo"} xref: Orphanet:171929 {source="MONDO:equivalentTo"} xref: SCTID:717157006 {source="MONDO:equivalentTo"} -xref: UMLS:C0795837 {source="Orphanet:171929", source="MONDO:notFoundInDiseaseSubset", source="ORDO:171929/e"} +xref: UMLS:C0795837 {source="Orphanet:171929", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:171929/e"} xref: UMLS:C4082793 {source="MONDO:equivalentTo"} is_a: MONDO:0016947 {source="Orphanet:171929"} ! partial duplication of the short arm of chromosome 10 @@ -311512,15 +311353,15 @@ subset: ordo_disease {source="Orphanet:172"} synonym: "cholestasis, progressive familial intrahepatic" EXACT [OMIMPS:211600] synonym: "PFIC" EXACT ABBREVIATION [Orphanet:172] xref: DOID:0070221 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="ORDO:172/attributed", source="ORDO:172/ntbt", source="Orphanet:172"} +xref: ICD10CM:K76.8 {source="Orphanet:172", source="Orphanet:172/attributed", source="Orphanet:172/ntbt"} xref: NCIT:C84453 {source="MONDO:equivalentTo"} -xref: OMIM:211600 {source="MONDO:superClassOf", source="ORDO:172/btnt", source="Orphanet:172"} -xref: OMIM:601847 {source="MONDO:superClassOf", source="ORDO:172/btnt", source="Orphanet:172"} -xref: OMIM:602347 {source="MONDO:superClassOf", source="ORDO:172/btnt", source="Orphanet:172"} -xref: OMIM:615878 {source="MONDO:superClassOf", source="ORDO:172/btnt", source="Orphanet:172"} +xref: OMIM:211600 {source="MONDO:superClassOf", source="Orphanet:172", source="Orphanet:172/btnt"} +xref: OMIM:601847 {source="MONDO:superClassOf", source="Orphanet:172", source="Orphanet:172/btnt"} +xref: OMIM:602347 {source="MONDO:superClassOf", source="Orphanet:172", source="Orphanet:172/btnt"} +xref: OMIM:615878 {source="MONDO:superClassOf", source="Orphanet:172", source="Orphanet:172/btnt"} xref: OMIMPS:211600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:172 {source="MONDO:equivalentTo"} -xref: UMLS:C0268312 {source="ORDO:172/e", source="MONDO:equivalentTo", source="Orphanet:172", source="NCIT:C84453"} +xref: UMLS:C0268312 {source="MONDO:equivalentTo", source="Orphanet:172", source="NCIT:C84453", source="Orphanet:172/e"} is_a: MONDO:0002254 {source="NCIT:C84453"} ! syndromic disease is_a: MONDO:0017290 {source="MONDO:Redundant", source="Orphanet:172"} ! familial intrahepatic cholestasis is_a: MONDO:0017755 {source="Orphanet:172"} ! inborn disorder of bilirubin metabolism @@ -311537,7 +311378,7 @@ synonym: "Mosaic trisomy chromosome 2" EXACT [Orphanet:1723] synonym: "Mosaic trisomy type 2" EXACT [MONDORULE:1, Orphanet:1723] synonym: "trisomy 2 mosaicism" EXACT [Orphanet:1723] xref: GARD:0005331 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.1 {source="ORDO:1723/attributed", source="ORDO:1723/ntbt", source="Orphanet:1723"} +xref: ICD10CM:Q92.1 {source="Orphanet:1723", source="Orphanet:1723/attributed", source="Orphanet:1723/ntbt"} xref: Orphanet:1723 {source="MONDO:equivalentTo"} xref: SCTID:764623009 {source="MONDO:equivalentTo"} xref: UMLS:CN073991 {source="MONDO:equivalentTo"} @@ -311554,7 +311395,7 @@ def: "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly var subset: ordo_malformation_syndrome {source="Orphanet:1724"} synonym: "Mosaic trisomy chromosome 20" EXACT [Orphanet:1724] synonym: "Mosaic trisomy type 20" EXACT [MONDORULE:2, Orphanet:1724] -xref: ICD10CM:Q92.1 {source="ORDO:1724/attributed", source="ORDO:1724/ntbt", source="Orphanet:1724"} +xref: ICD10CM:Q92.1 {source="Orphanet:1724/attributed", source="Orphanet:1724/ntbt", source="Orphanet:1724"} xref: Orphanet:1724 {source="MONDO:equivalentTo"} is_a: MONDO:0020051 {source="Orphanet:1724"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy @@ -311568,7 +311409,7 @@ id: MONDO:0015765 name: congenital myopathy with cores subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:172976"} -xref: ICD10CM:G71.2 {source="ORDO:172976/attributed", source="ORDO:172976/ntbt", source="Orphanet:172976"} +xref: ICD10CM:G71.2 {source="Orphanet:172976/attributed", source="Orphanet:172976/ntbt", source="Orphanet:172976"} xref: Orphanet:172976 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:172976"} ! congenital myopathy relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -311590,14 +311431,14 @@ synonym: "Vibrio cholerae infectious disease" EXACT [] xref: DOID:1498 {source="MONDO:equivalentTo"} xref: GARD:0006043 {source="MONDO:equivalentTo"} xref: ICD10CM:A00 {source="DOID:1498", source="MONDO:equivalentTo"} -xref: ICD10CM:A00.0 {source="DOID:1498", source="ORDO:173/btnt", source="Orphanet:173"} -xref: ICD10CM:A00.1 {source="ORDO:173/btnt", source="Orphanet:173"} -xref: ICD10CM:A00.9 {source="DOID:1498", source="ORDO:173/btnt", source="Orphanet:173"} +xref: ICD10CM:A00.0 {source="DOID:1498", source="Orphanet:173", source="Orphanet:173/btnt"} +xref: ICD10CM:A00.1 {source="Orphanet:173", source="Orphanet:173/btnt"} +xref: ICD10CM:A00.9 {source="DOID:1498", source="Orphanet:173", source="Orphanet:173/btnt"} xref: ICD9:001 {source="DOID:1498"} xref: ICD9:001.0 {source="DOID:1498", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:001.9 {source="DOID:1498", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10008631 {source="ORDO:173/e", source="Orphanet:173"} -xref: MESH:D002771 {source="DOID:1498", source="MONDO:equivalentTo", source="ORDO:173/e", source="Orphanet:173"} +xref: MedDRA:10008631 {source="Orphanet:173", source="Orphanet:173/e"} +xref: MESH:D002771 {source="DOID:1498", source="MONDO:equivalentTo", source="Orphanet:173", source="Orphanet:173/e"} xref: Orphanet:173 {source="MONDO:equivalentTo"} xref: SCTID:154269008 {source="DOID:1498"} xref: SCTID:186087007 {source="DOID:1498"} @@ -311606,7 +311447,7 @@ xref: SCTID:186089005 {source="DOID:1498"} xref: SCTID:187267007 {source="DOID:1498"} xref: SCTID:61972007 {source="DOID:1498"} xref: SCTID:63650001 {source="DOID:1498", source="MONDO:equivalentTo"} -xref: UMLS:C0008354 {source="DOID:1498", source="MONDO:equivalentTo", source="ORDO:173/e", source="Orphanet:173"} +xref: UMLS:C0008354 {source="DOID:1498", source="MONDO:equivalentTo", source="Orphanet:173", source="Orphanet:173/e"} is_a: MONDO:0000314 {source="DOID:1498"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="Orphanet:173"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -311631,11 +311472,11 @@ synonym: "partial trisomy 4p" RELATED [GARD:0006091] synonym: "trisomy of the short arm of chromosome 4" EXACT [Orphanet:1738] synonym: "trisomy type 4p" EXACT [MONDORULE:4, Orphanet:1738] xref: GARD:0006091 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.2 {source="Orphanet:1738", source="ORDO:1738/attributed", source="ORDO:1738/ntbt"} -xref: MESH:C537643 {source="MONDO:equivalentTo", source="Orphanet:1738", source="ORDO:1738/e"} +xref: ICD10CM:Q92.2 {source="Orphanet:1738/attributed", source="Orphanet:1738/ntbt", source="Orphanet:1738"} +xref: MESH:C537643 {source="Orphanet:1738/e", source="MONDO:equivalentTo", source="Orphanet:1738"} xref: Orphanet:1738 {source="MONDO:equivalentTo"} xref: UMLS:C2931570 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1738"} -xref: UMLS:C2931571 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1738", source="ORDO:1738/e"} +xref: UMLS:C2931571 {source="Orphanet:1738/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1738"} is_a: MONDO:0016941 {source="Orphanet:1738"} ! partial duplication of the short arm of chromosome 4 [Term] @@ -311652,7 +311493,7 @@ synonym: "partial trisomy 5p" RELATED [GARD:0006093] synonym: "trisomy of the short arm of chromosome 5" EXACT [Orphanet:1742] synonym: "trisomy type 5p" EXACT [MONDORULE:4, Orphanet:1742] xref: GARD:0006093 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.2 {source="ORDO:1742/attributed", source="ORDO:1742/ntbt", source="Orphanet:1742"} +xref: ICD10CM:Q92.2 {source="Orphanet:1742", source="Orphanet:1742/attributed", source="Orphanet:1742/ntbt"} xref: Orphanet:1742 {source="MONDO:equivalentTo"} is_a: MONDO:0016942 {source="Orphanet:1742"} ! partial trisomy/tetrasomy of the short arm of chromosome 5 is_a: MONDO:0019716 ! overgrowth syndrome @@ -311682,7 +311523,7 @@ name: congenital hypogonadotropic hypogonadism def: "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [Orphanet:174590] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:174590"} -xref: ICD10CM:E23.0 {source="Orphanet:174590", source="MONDO:relatedTo", source="ORDO:174590/attributed", source="ORDO:174590/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:174590", source="MONDO:relatedTo", source="Orphanet:174590/attributed", source="Orphanet:174590/ntbt"} xref: NCIT:C120162 {source="MONDO:equivalentTo"} xref: Orphanet:174590 {source="MONDO:equivalentTo"} xref: SCTID:722944006 {source="MONDO:equivalentTo"} @@ -311703,11 +311544,11 @@ synonym: "Mosaic trisomy chromosome 7" RELATED [GARD:0005354] synonym: "Mosaic trisomy type 7" EXACT [MONDORULE:1, Orphanet:1747] synonym: "trisomy 7 mosaicism" RELATED [GARD:0005354] xref: GARD:0005354 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="ORDO:1747/attributed", source="ORDO:1747/ntbt", source="Orphanet:1747"} -xref: MESH:C537822 {source="MONDO:equivalentTo", source="Orphanet:1747", source="ORDO:1747/e"} +xref: ICD10CM:Q92.1 {source="Orphanet:1747", source="Orphanet:1747/attributed", source="Orphanet:1747/ntbt"} +xref: MESH:C537822 {source="Orphanet:1747/e", source="MONDO:equivalentTo", source="Orphanet:1747"} xref: Orphanet:1747 {source="MONDO:equivalentTo"} xref: SCTID:764630003 {source="MONDO:equivalentTo"} -xref: UMLS:C2931631 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1747", source="ORDO:1747/e"} +xref: UMLS:C2931631 {source="Orphanet:1747/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1747"} xref: UMLS:CN036006 {source="MONDO:equivalentTo"} is_a: MONDO:0020051 {source="Orphanet:1747"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy @@ -311728,11 +311569,11 @@ synonym: "Duplication 8q" EXACT [Orphanet:1752] synonym: "partial trisomy 8q" RELATED [GARD:0005362] synonym: "trisomy type 8q" EXACT [MONDORULE:4, Orphanet:1752] xref: GARD:0005362 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.2 {source="Orphanet:1752", source="ORDO:1752/attributed", source="ORDO:1752/ntbt"} -xref: MESH:C538020 {source="Orphanet:1752", source="ORDO:1752/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q92.2 {source="Orphanet:1752/attributed", source="Orphanet:1752/ntbt", source="Orphanet:1752"} +xref: MESH:C538020 {source="Orphanet:1752", source="MONDO:equivalentTo", source="Orphanet:1752/e"} xref: NCIT:C36428 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"} xref: Orphanet:1752 {source="MONDO:equivalentTo"} -xref: UMLS:C0795829 {source="Orphanet:1752", source="ORDO:1752/e", source="MONDO:equivalentTo"} +xref: UMLS:C0795829 {source="Orphanet:1752", source="MONDO:equivalentTo", source="Orphanet:1752/e"} is_a: MONDO:0016959 {source="Orphanet:1752"} ! partial duplication of the long arm of chromosome 8 [Term] @@ -311741,7 +311582,7 @@ name: fibular dimelia-diplopodia syndrome def: "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." [Orphanet:1757] subset: ordo_malformation_syndrome {source="Orphanet:1757"} synonym: "leg duplication-mirror foot syndrome" EXACT [Orphanet:1757] -xref: ICD10CM:Q74.8 {source="ORDO:1757/attributed", source="ORDO:1757/ntbt", source="Orphanet:1757"} +xref: ICD10CM:Q74.8 {source="Orphanet:1757/attributed", source="Orphanet:1757/ntbt", source="Orphanet:1757"} xref: Orphanet:1757 {source="MONDO:equivalentTo"} xref: SCTID:720953006 {source="MONDO:equivalentTo"} xref: UMLS:CN200350 {source="MONDO:equivalentTo"} @@ -311755,7 +311596,7 @@ subset: gard_rare {source="GARD:0005181"} subset: ordo_malformation_syndrome {source="Orphanet:1759"} synonym: "thoraco abdominal enteric duplication" RELATED [GARD:0005181] xref: GARD:0005181 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q43.4 {source="ORDO:1759/attributed", source="ORDO:1759/ntbt", source="Orphanet:1759"} +xref: ICD10CM:Q43.4 {source="Orphanet:1759/attributed", source="Orphanet:1759/ntbt", source="Orphanet:1759"} xref: Orphanet:1759 {source="MONDO:equivalentTo"} xref: SCTID:733628001 {source="MONDO:equivalentTo"} is_a: MONDO:0015212 {source="Orphanet:1759"} ! syndromic intestinal malformation @@ -311767,7 +311608,7 @@ name: non-rhizomelic chondrodysplasia punctata def: "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." [Orphanet:176] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:176"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:176/attributed", source="ORDO:176/ntbt", source="Orphanet:176"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:176/attributed", source="Orphanet:176/ntbt", source="Orphanet:176"} xref: Orphanet:176 {source="MONDO:equivalentTo"} is_a: MONDO:0019701 {source="Orphanet:176"} ! chondrodysplasia punctata @@ -311785,17 +311626,17 @@ synonym: "rhizomelic dwarfism" EXACT [NCIT:C85047] xref: DOID:2580 {source="MONDO:equivalentTo"} xref: GARD:0013160 {source="MONDO:equivalentTo"} xref: ICD10CM:E71.540 {source="MONDO:equivalentTo", source="DOID:2580"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:177/attributed", source="ORDO:177/ntbt", source="Orphanet:177"} -xref: MESH:D018902 {source="MONDO:equivalentTo", source="ORDO:177/e", source="Orphanet:177", source="DOID:2580"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:177/attributed", source="Orphanet:177/ntbt", source="Orphanet:177"} +xref: MESH:D018902 {source="Orphanet:177/e", source="MONDO:equivalentTo", source="Orphanet:177", source="DOID:2580"} xref: NCIT:C85047 {source="MONDO:equivalentTo", source="DOID:2580"} -xref: OMIM:215100 {source="ORDO:177/btnt", source="MONDO:superClassOf", source="Orphanet:177"} -xref: OMIM:222765 {source="ORDO:177/btnt", source="MONDO:superClassOf", source="Orphanet:177"} -xref: OMIM:600121 {source="ORDO:177/btnt", source="MONDO:superClassOf", source="Orphanet:177"} +xref: OMIM:215100 {source="MONDO:superClassOf", source="Orphanet:177/btnt", source="Orphanet:177"} +xref: OMIM:222765 {source="MONDO:superClassOf", source="Orphanet:177/btnt", source="Orphanet:177"} +xref: OMIM:600121 {source="MONDO:superClassOf", source="Orphanet:177/btnt", source="Orphanet:177"} xref: OMIM:616716 {source="MONDO:superClassOf", source="Orphanet:177"} xref: OMIMPS:215100 {source="MONDO:equivalentTo", source="DOID:2580"} xref: Orphanet:177 {source="MONDO:equivalentTo", source="DOID:2580"} xref: SCTID:56692003 {source="MONDO:equivalentTo", source="DOID:2580"} -xref: UMLS:C0282529 {source="MONDO:equivalentTo", source="ORDO:177/e", source="Orphanet:177", source="NCIT:C85047", source="DOID:2580"} +xref: UMLS:C0282529 {source="Orphanet:177/e", source="MONDO:equivalentTo", source="Orphanet:177", source="NCIT:C85047", source="DOID:2580"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0017986 {source="Orphanet:177"} ! disorder of plasmalogens biosynthesis @@ -311850,7 +311691,7 @@ synonym: "45,X0/46,XY mixed gonadal dysgenesis" EXACT [Orphanet:1772] synonym: "Mixed gonadal dysgenesis" EXACT [NCIT:C120199] synonym: "XY/X0" EXACT [] xref: DOID:0080656 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q98.7 {source="Orphanet:1772", source="ORDO:1772/attributed", source="ORDO:1772/ntbt"} +xref: ICD10CM:Q98.7 {source="Orphanet:1772", source="Orphanet:1772/attributed", source="Orphanet:1772/ntbt"} xref: NCIT:C120199 {source="MONDO:equivalentTo"} xref: Orphanet:1772 {source="MONDO:equivalentTo"} xref: UMLS:C0018055 {source="MONDO:relatedTo", source="NCIT:C120199"} @@ -311878,23 +311719,23 @@ synonym: "Zinsser Cole Engman syndrome" RELATED [GARD:0002007] synonym: "Zinsser-Engman-Cole syndrome" EXACT [GARD:0010905, Orphanet:1775] xref: DOID:2729 {source="MONDO:equivalentTo"} xref: GARD:0010905 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:1775/index", source="ORDO:1775/ntbt", source="Orphanet:1775"} -xref: MedDRA:10062759 {source="ORDO:1775/e", source="Orphanet:1775"} -xref: MESH:D019871 {source="ORDO:1775/e", source="MONDO:equivalentTo", source="Orphanet:1775", source="DOID:2729"} +xref: ICD10CM:Q82.8 {source="Orphanet:1775", source="Orphanet:1775/index", source="Orphanet:1775/ntbt"} +xref: MedDRA:10062759 {source="Orphanet:1775", source="Orphanet:1775/e"} +xref: MESH:D019871 {source="MONDO:equivalentTo", source="Orphanet:1775", source="Orphanet:1775/e", source="DOID:2729"} xref: NCIT:C111802 {source="MONDO:equivalentTo", source="DOID:2729"} -xref: OMIM:127550 {source="GARD:0010905", source="ORDO:1775/e", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:224230 {source="GARD:0010905", source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:305000 {source="GARD:0010905", source="GARD:0002007", source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:613987 {source="GARD:0010905", source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:613988 {source="GARD:0010905", source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:613989 {source="GARD:0010905", source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:613990 {source="GARD:0010905", source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:615190 {source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775", source="DOID:2729"} -xref: OMIM:616353 {source="MONDO:superClassOf", source="ORDO:1775/btnt", source="Orphanet:1775"} +xref: OMIM:127550 {source="GARD:0010905", source="MONDO:superClassOf", source="Orphanet:1775", source="Orphanet:1775/e", source="DOID:2729"} +xref: OMIM:224230 {source="GARD:0010905", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:305000 {source="GARD:0010905", source="GARD:0002007", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:613987 {source="GARD:0010905", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:613988 {source="GARD:0010905", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:613989 {source="GARD:0010905", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:613990 {source="GARD:0010905", source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:615190 {source="MONDO:superClassOf", source="Orphanet:1775", source="DOID:2729", source="Orphanet:1775/btnt"} +xref: OMIM:616353 {source="MONDO:superClassOf", source="Orphanet:1775", source="Orphanet:1775/btnt"} xref: OMIMPS:127550 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="GARD:0010905", source="MONDO:equivalentTo", source="GARD:0002007", source="DOID:2729"} xref: SCTID:74911008 {source="MONDO:equivalentTo", source="DOID:2729"} -xref: UMLS:C0265965 {source="NCIT:C111802", source="ORDO:1775/e", source="MONDO:equivalentTo", source="Orphanet:1775", source="DOID:2729"} +xref: UMLS:C0265965 {source="NCIT:C111802", source="MONDO:equivalentTo", source="Orphanet:1775", source="Orphanet:1775/e", source="DOID:2729"} xref: UMLS:C1148551 {source="GARD:0002007", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015356 {source="Orphanet:1775"} ! hereditary neoplastic syndrome is_a: MONDO:0019287 {source="Orphanet:1775"} ! ectodermal dysplasia syndrome @@ -311924,7 +311765,7 @@ synonym: "hypertelorism, downslanting palpebral fissures, malar hypoplasia, and synonym: "Seaver Cassidy syndrome" RELATED [GARD:0004778] synonym: "Seaver-Cassidy syndrome" EXACT [Orphanet:1778] xref: GARD:0004778 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1778/attributed", source="ORDO:1778/ntbt", source="Orphanet:1778"} +xref: ICD10CM:Q87.8 {source="Orphanet:1778", source="Orphanet:1778/attributed", source="Orphanet:1778/ntbt"} xref: MESH:C537529 {source="MONDO:equivalentTo"} xref: Orphanet:1778 {source="MONDO:equivalentTo"} xref: SCTID:716337006 {source="MONDO:equivalentTo"} @@ -311946,7 +311787,7 @@ is_a: MONDO:0015335 {source="Orphanet:1779"} ! orofacial clefting syndrome id: MONDO:0015783 name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 subset: ordo_etiological_subtype {source="Orphanet:177901"} -xref: ICD10CM:Q87.1 {source="ORDO:177901/attributed", source="ORDO:177901/ntbt", source="Orphanet:177901"} +xref: ICD10CM:Q87.1 {source="Orphanet:177901", source="Orphanet:177901/attributed", source="Orphanet:177901/ntbt"} xref: Orphanet:177901 {source="MONDO:equivalentTo"} xref: UMLS:CN200365 {source="MONDO:equivalentTo"} is_a: MONDO:0020301 {source="Orphanet:177901"} ! Prader-Willi syndrome due to paternal 15q11q13 deletion @@ -311955,7 +311796,7 @@ is_a: MONDO:0020301 {source="Orphanet:177901"} ! Prader-Willi syndrome due to pa id: MONDO:0015784 name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 subset: ordo_etiological_subtype {source="Orphanet:177904"} -xref: ICD10CM:Q87.1 {source="ORDO:177904/attributed", source="ORDO:177904/ntbt", source="Orphanet:177904"} +xref: ICD10CM:Q87.1 {source="Orphanet:177904/attributed", source="Orphanet:177904/ntbt", source="Orphanet:177904"} xref: Orphanet:177904 {source="MONDO:equivalentTo"} xref: UMLS:CN200366 {source="MONDO:equivalentTo"} is_a: MONDO:0020301 {source="Orphanet:177904"} ! Prader-Willi syndrome due to paternal 15q11q13 deletion @@ -311964,7 +311805,7 @@ is_a: MONDO:0020301 {source="Orphanet:177904"} ! Prader-Willi syndrome due to pa id: MONDO:0015785 name: Prader-Willi syndrome due to translocation subset: ordo_etiological_subtype {source="Orphanet:177907"} -xref: ICD10CM:Q87.1 {source="Orphanet:177907", source="ORDO:177907/attributed", source="ORDO:177907/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:177907", source="Orphanet:177907/attributed", source="Orphanet:177907/ntbt"} xref: Orphanet:177907 {source="MONDO:equivalentTo"} xref: UMLS:CN200367 {source="MONDO:equivalentTo"} is_a: MONDO:0008300 {source="Orphanet:177907"} ! Prader-Willi syndrome @@ -311973,7 +311814,7 @@ is_a: MONDO:0008300 {source="Orphanet:177907"} ! Prader-Willi syndrome id: MONDO:0015786 name: Prader-Willi syndrome due to imprinting mutation subset: ordo_etiological_subtype {source="Orphanet:177910"} -xref: ICD10CM:Q87.1 {source="ORDO:177910/attributed", source="ORDO:177910/ntbt", source="Orphanet:177910"} +xref: ICD10CM:Q87.1 {source="Orphanet:177910", source="Orphanet:177910/attributed", source="Orphanet:177910/ntbt"} xref: Orphanet:177910 {source="MONDO:equivalentTo"} xref: UMLS:CN200368 {source="MONDO:equivalentTo"} is_a: MONDO:0008300 {source="Orphanet:177910"} ! Prader-Willi syndrome @@ -311983,7 +311824,7 @@ id: MONDO:0015787 name: symptomatic form of hemophilia A in female carriers def: "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." [Orphanet:177926] subset: ordo_clinical_subtype {source="Orphanet:177926"} -xref: ICD10CM:D66 {source="ORDO:177926/attributed", source="ORDO:177926/ntbt", source="Orphanet:177926"} +xref: ICD10CM:D66 {source="Orphanet:177926/attributed", source="Orphanet:177926/ntbt", source="Orphanet:177926"} xref: Orphanet:177926 {source="MONDO:equivalentTo"} xref: UMLS:CN200369 {source="MONDO:equivalentTo"} is_a: MONDO:0010602 {source="Orphanet:177926"} ! hemophilia A @@ -311993,7 +311834,7 @@ id: MONDO:0015788 name: symptomatic form of hemophilia B in female carriers def: "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." [Orphanet:177929] subset: ordo_clinical_subtype {source="Orphanet:177929"} -xref: ICD10CM:D67 {source="Orphanet:177929", source="ORDO:177929/attributed", source="ORDO:177929/ntbt"} +xref: ICD10CM:D67 {source="Orphanet:177929", source="Orphanet:177929/attributed", source="Orphanet:177929/ntbt"} xref: Orphanet:177929 {source="MONDO:equivalentTo"} xref: UMLS:CN200370 {source="MONDO:equivalentTo"} is_a: MONDO:0010604 {source="Orphanet:177929"} ! hemophilia B @@ -312003,7 +311844,7 @@ id: MONDO:0015789 name: obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency' subset: ordo_group_of_disorders {source="Orphanet:178025"} -xref: ICD10CM:E23.0 {source="Orphanet:178025", source="MONDO:relatedTo", source="ORDO:178025/attributed", source="ORDO:178025/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:178025", source="MONDO:relatedTo", source="Orphanet:178025/attributed", source="Orphanet:178025/ntbt"} xref: Orphanet:178025 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -312022,13 +311863,13 @@ synonym: "diabetes insipidus neurohypophyseal" RELATED [GARD:0006015] synonym: "neurogenic diabetes insipidus" EXACT [Orphanet:178029] xref: GARD:0006015 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0000863 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="ORDO:178029/ntbt", source="Orphanet:178029"} -xref: MedDRA:10068587 {source="Orphanet:178029", source="ORDO:178029/e"} -xref: MESH:D020790 {source="Orphanet:178029", source="ORDO:178029/e"} -xref: OMIM:125700 {source="ORDO:178029/btnt", source="Orphanet:178029", source="MONDO:superClassOf"} -xref: OMIM:304900 {source="ORDO:178029/btnt", source="Orphanet:178029", source="MONDO:superClassOf"} +xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:178029", source="Orphanet:178029/ntbt"} +xref: MedDRA:10068587 {source="Orphanet:178029", source="Orphanet:178029/e"} +xref: MESH:D020790 {source="Orphanet:178029", source="Orphanet:178029/e"} +xref: OMIM:125700 {source="Orphanet:178029", source="MONDO:superClassOf", source="Orphanet:178029/btnt"} +xref: OMIM:304900 {source="Orphanet:178029", source="MONDO:superClassOf", source="Orphanet:178029/btnt"} xref: Orphanet:178029 {source="MONDO:equivalentTo"} -xref: UMLS:C0687720 {source="Orphanet:178029", source="MONDO:notFoundInDiseaseSubset", source="ORDO:178029/e"} +xref: UMLS:C0687720 {source="Orphanet:178029", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:178029/e"} is_a: MONDO:0015127 {source="Orphanet:178029"} ! pituitary deficiency is_a: MONDO:0100070 {xref="https://orcid.org/0000-0002-2825-0621"} ! neuroendocrine disorder @@ -312042,7 +311883,7 @@ synonym: "GIPP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/preco synonym: "gonadotropin independent precocious puberty" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/] synonym: "gonadotropin-independent precocious puberty" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/] synonym: "precocious pseudopuberty" EXACT [Wikipedia:Precocious_puberty#Peripheral] -xref: ICD10CM:E30.1 {source="MONDO:subClassOf", source="ORDO:178040/e", source="ORDO:178040/specific", source="Orphanet:178040"} +xref: ICD10CM:E30.1 {source="MONDO:subClassOf", source="Orphanet:178040/specific", source="Orphanet:178040/e", source="Orphanet:178040"} xref: Orphanet:178040 {source="MONDO:equivalentTo"} xref: SCTID:736606009 {source="MONDO:equivalentTo"} is_a: MONDO:0000088 {source="Orphanet:178040"} ! precocious puberty @@ -312070,8 +311911,8 @@ intersection_of: has_modifier HP:0025153 ! Transient id: MONDO:0015793 name: moderate multiminicore disease with hand involvement subset: ordo_clinical_subtype {source="Orphanet:178145"} -xref: ICD10CM:G71.2 {source="Orphanet:178145", source="ORDO:178145/attributed", source="ORDO:178145/ntbt"} -xref: OMIM:117000 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:178145", source="ORDO:178145/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:178145/attributed", source="Orphanet:178145/ntbt", source="Orphanet:178145"} +xref: OMIM:117000 {source="MONDO:subClassOf", source="Orphanet:178145/ntbt", source="MONDO:relatedTo", source="Orphanet:178145"} xref: Orphanet:178145 {source="MONDO:equivalentTo"} xref: UMLS:C1861753 {source="Orphanet:178145", source="MONDO:equivalentTo"} is_a: MONDO:0018948 {source="Orphanet:178145"} ! multiminicore myopathy @@ -312084,7 +311925,7 @@ subset: ordo_clinical_subtype {source="Orphanet:178148"} synonym: "multicore myopathy, antenatal onset, with arthrogryposis" RELATED [GARD:0009129] synonym: "multiminicore myopathy, antenatal onset, with arthrogryposis" RELATED [GARD:0009129] xref: GARD:0009129 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:178148", source="ORDO:178148/attributed", source="ORDO:178148/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:178148/attributed", source="Orphanet:178148/ntbt", source="Orphanet:178148"} xref: Orphanet:178148 {source="MONDO:equivalentTo"} xref: UMLS:C1843691 {source="Orphanet:178148", source="MONDO:equivalentTo"} is_a: MONDO:0018948 {source="Orphanet:178148"} ! multiminicore myopathy @@ -312109,12 +311950,12 @@ name: acute lung injury def: "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." [MESH:D055371] subset: ordo_clinical_situation {source="Orphanet:178320"} xref: EFO:0004610 {source="MONDO:equivalentTo"} -xref: MedDRA:10069351 {source="Orphanet:178320", source="ORDO:178320/e"} -xref: MESH:D055371 {source="Orphanet:178320", source="ORDO:178320/e", source="EFO:0004610", source="MONDO:equivalentTo"} +xref: MedDRA:10069351 {source="Orphanet:178320", source="Orphanet:178320/e"} +xref: MESH:D055371 {source="Orphanet:178320", source="EFO:0004610", source="MONDO:equivalentTo", source="Orphanet:178320/e"} xref: NCIT:C155766 {source="MONDO:equivalentTo"} xref: Orphanet:178320 {source="MONDO:equivalentTo"} xref: SCTID:315345002 {source="EFO:0004610", source="MONDO:equivalentTo"} -xref: UMLS:C0242488 {source="Orphanet:178320", source="ORDO:178320/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0242488 {source="Orphanet:178320", source="Orphanet:178320/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005087 {source="Orphanet:178320"} ! respiratory system disorder is_a: MONDO:0005275 {source="EFO:0004610", source="MESH:D055371/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disorder @@ -312131,9 +311972,9 @@ xref: GARD:0010947 {source="MONDO:equivalentTo"} xref: ICD9:702.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:563466 {source="DOID:0060240"} xref: MESH:C563466 {source="MONDO:equivalentTo"} -xref: OMIM:600630 {source="ORDO:178338/btnt", source="MONDO:superClassOf", source="Orphanet:178338", source="DOID:0060240"} -xref: OMIM:614621 {source="ORDO:178338/btnt", source="MONDO:superClassOf", source="Orphanet:178338", source="DOID:0060240"} -xref: OMIM:614640 {source="ORDO:178338/btnt", source="MONDO:superClassOf", source="Orphanet:178338", source="DOID:0060240"} +xref: OMIM:600630 {source="MONDO:superClassOf", source="Orphanet:178338", source="Orphanet:178338/btnt", source="DOID:0060240"} +xref: OMIM:614621 {source="MONDO:superClassOf", source="Orphanet:178338", source="Orphanet:178338/btnt", source="DOID:0060240"} +xref: OMIM:614640 {source="MONDO:superClassOf", source="Orphanet:178338", source="Orphanet:178338/btnt", source="DOID:0060240"} xref: OMIMPS:600630 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:178338 {source="MONDO:equivalentTo", source="DOID:0060240"} xref: SCTID:698253007 {source="MONDO:equivalentTo"} @@ -312160,12 +312001,12 @@ synonym: "inflammatory pseudotumor" EXACT [GARD:0007146, NCIT:C6481] xref: DOID:0050905 {source="MONDO:equivalentTo"} xref: GARD:0007146 {source="MONDO:equivalentTo"} xref: ICDO:8825/1 {source="NCIT:C6481"} -xref: MedDRA:10067917 {source="Orphanet:178342", source="ORDO:178342/e"} +xref: MedDRA:10067917 {source="Orphanet:178342", source="Orphanet:178342/e"} xref: MESH:D006104 {source="MONDO:equivalentTo"} xref: NCIT:C6481 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:IMT {source="MONDO:equivalentTo"} xref: Orphanet:178342 {source="MONDO:equivalentTo"} -xref: UMLS:C0334121 {source="Orphanet:178342", source="ORDO:178342/e", source="MONDO:equivalentTo", source="NCIT:C6481"} +xref: UMLS:C0334121 {source="Orphanet:178342", source="MONDO:equivalentTo", source="Orphanet:178342/e", source="NCIT:C6481"} is_a: MONDO:0006424 {source="Orphanet:178342"} ! soft tissue neoplasm relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor xsd:anyURI {source="GARD:0007146"} @@ -312180,10 +312021,10 @@ synonym: "Smith McCort dysplasia" RELATED [GARD:0010620] synonym: "Smith-McCort dwarfism" RELATED [GARD:0010620] xref: DOID:0060247 {source="MONDO:equivalentTo"} xref: GARD:0010620 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:178355", source="ORDO:178355/attributed", source="ORDO:178355/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:178355", source="Orphanet:178355/attributed", source="Orphanet:178355/ntbt"} xref: MESH:C564589 {source="MONDO:equivalentTo", source="DOID:0060247"} -xref: OMIM:607326 {source="Orphanet:178355", source="DOID:0060247", source="MONDO:superClassOf", source="ORDO:178355/btnt"} -xref: OMIM:615222 {source="Orphanet:178355", source="DOID:0060247", source="MONDO:superClassOf", source="ORDO:178355/btnt"} +xref: OMIM:607326 {source="Orphanet:178355", source="Orphanet:178355/btnt", source="DOID:0060247", source="MONDO:superClassOf"} +xref: OMIM:615222 {source="Orphanet:178355", source="Orphanet:178355/btnt", source="DOID:0060247", source="MONDO:superClassOf"} xref: OMIMPS:607326 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="MONDO:equivalentTo", source="DOID:0060247"} xref: SCTID:715862006 {source="MONDO:equivalentTo"} @@ -312198,7 +312039,7 @@ id: MONDO:0015800 name: osteosclerosis-developmental delay-craniosynostosis syndrome def: "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." [Orphanet:178377] subset: ordo_malformation_syndrome {source="Orphanet:178377"} -xref: ICD10CM:Q75.8 {source="Orphanet:178377", source="ORDO:178377/attributed", source="ORDO:178377/ntbt"} +xref: ICD10CM:Q75.8 {source="Orphanet:178377", source="Orphanet:178377/attributed", source="Orphanet:178377/ntbt"} xref: Orphanet:178377 {source="MONDO:equivalentTo"} xref: SCTID:722117000 {source="MONDO:equivalentTo"} xref: UMLS:CN200391 {source="MONDO:equivalentTo"} @@ -312244,13 +312085,13 @@ synonym: "inoculation botulism" EXACT [Orphanet:178475] synonym: "skin infectious botulism" EXACT [Orphanet:178475] synonym: "skin toxin-mediated botulism" EXACT [Orphanet:178475] xref: DOID:0050353 {source="MONDO:equivalentTo"} -xref: ICD10CM:A05.1 {source="Orphanet:178475", source="ORDO:178475/ntbt"} +xref: ICD10CM:A05.1 {source="Orphanet:178475/ntbt", source="Orphanet:178475"} xref: ICD10CM:A48.52 {source="MONDO:equivalentTo"} xref: ICD9:040.42 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C128342 {source="MONDO:equivalentTo"} xref: Orphanet:178475 {source="MONDO:equivalentTo"} xref: SCTID:398530003 {source="MONDO:equivalentTo"} -xref: UMLS:C1306794 {source="ORDO:178475/e", source="NCIT:C128342", source="Orphanet:178475", source="MONDO:equivalentTo"} +xref: UMLS:C1306794 {source="NCIT:C128342", source="Orphanet:178475", source="MONDO:equivalentTo", source="Orphanet:178475/e"} is_a: MONDO:0005498 {source="DOID:0050353", source="MONDO:Redundant", source="NCIT:C128342", source="Orphanet:178475/inferred", source="linkedlifedata"} ! botulism is_a: MONDO:0016468 {source="Orphanet:178475"} ! toxin-mediated infectious botulism relationship: disease_has_infectious_agent NCBITaxon:1491 {source="Wikidata"} ! Clostridium botulinum @@ -312271,12 +312112,12 @@ synonym: "infant intestinal toxin-mediated botulism" EXACT [Orphanet:178478] synonym: "infantile botulism" EXACT [Orphanet:178478] synonym: "infantile onset botulism" EXACT [MONDO:patterns/infantile] xref: DOID:0050354 {source="MONDO:equivalentTo"} -xref: ICD10CM:A05.1 {source="Orphanet:178478", source="ORDO:178478/ntbt"} +xref: ICD10CM:A05.1 {source="Orphanet:178478/ntbt", source="Orphanet:178478"} xref: ICD10CM:A48.51 {source="MONDO:equivalentTo"} xref: NCIT:C128343 {source="MONDO:equivalentTo"} xref: Orphanet:178478 {source="MONDO:equivalentTo"} xref: SCTID:414488002 {source="MONDO:equivalentTo"} -xref: UMLS:C0238027 {source="NCIT:C128343", source="Orphanet:178478", source="ORDO:178478/e", source="MONDO:equivalentTo"} +xref: UMLS:C0238027 {source="NCIT:C128343", source="Orphanet:178478", source="MONDO:equivalentTo", source="Orphanet:178478/e"} is_a: MONDO:0005498 {source="DOID:0050354", source="MONDO:Redundant", source="NCIT:C128343", source="Orphanet:178478/inferred"} ! botulism is_a: MONDO:0015805 {source="Orphanet:178478"} ! intestinal botulism intersection_of: MONDO:0005498 ! botulism @@ -312295,10 +312136,10 @@ synonym: "intestinal colonization botulism" EXACT [Orphanet:178481] synonym: "intestinal toxemia botulism" EXACT [Orphanet:178481] synonym: "intestinal toxin-mediated botulism" EXACT [Orphanet:178481] xref: DOID:0050141 {source="MONDO:equivalentTo"} -xref: ICD10CM:A05.1 {source="Orphanet:178481", source="ORDO:178481/ntbt"} +xref: ICD10CM:A05.1 {source="Orphanet:178481/ntbt", source="Orphanet:178481"} xref: Orphanet:178481 {source="MONDO:equivalentTo"} xref: SCTID:409563004 {source="MONDO:equivalentTo"} -xref: UMLS:C1443901 {source="MONDO:equivalentTo", source="Orphanet:178481", source="ORDO:178481/e"} +xref: UMLS:C1443901 {source="Orphanet:178481/e", source="MONDO:equivalentTo", source="Orphanet:178481"} is_a: MONDO:0016468 {source="Orphanet:178481"} ! toxin-mediated infectious botulism relationship: disease_has_infectious_agent NCBITaxon:1491 {source="Wikidata"} ! Clostridium botulinum @@ -312312,7 +312153,7 @@ synonym: "adult intestinal toxemia botulism" EXACT [Orphanet:178487] synonym: "adult intestinal toxin-mediated botulism" EXACT [Orphanet:178487] synonym: "infant-like botulism" EXACT [Orphanet:178487] synonym: "intestinal botulism of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -xref: ICD10CM:A05.1 {source="Orphanet:178487", source="ORDO:178487/ntbt"} +xref: ICD10CM:A05.1 {source="Orphanet:178487", source="Orphanet:178487/ntbt"} xref: NCIT:C128344 {source="MONDO:equivalentTo"} xref: Orphanet:178487 {source="MONDO:equivalentTo"} xref: UMLS:C4289991 {source="MONDO:equivalentTo"} @@ -312327,10 +312168,10 @@ name: myopic macular degeneration subset: ordo_disease {source="Orphanet:178493"} synonym: "myopic maculopathy" EXACT [Orphanet:178493] xref: EFO:0009201 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.3 {source="MONDO:relatedTo", source="ORDO:178493/ntbt", source="Orphanet:178493"} +xref: ICD10CM:H35.3 {source="MONDO:relatedTo", source="Orphanet:178493/ntbt", source="Orphanet:178493"} xref: Orphanet:178493 {source="MONDO:equivalentTo"} xref: SCTID:312898002 {source="MONDO:equivalentTo"} -xref: UMLS:C0730271 {source="MONDO:equivalentTo", source="ORDO:178493/e", source="Orphanet:178493"} +xref: UMLS:C0730271 {source="Orphanet:178493/e", source="MONDO:equivalentTo", source="Orphanet:178493"} is_a: MONDO:0020238 {source="Orphanet:178493"} ! inherited vitreous-retinal disease [Term] @@ -312343,12 +312184,12 @@ synonym: "follicular mucinosis type mycosis fungoides" EXACT [] synonym: "follicular mycosis fungoides" EXACT [NCIT:C35685] synonym: "folliculotropic mycosis fungoides" EXACT [] synonym: "mycosis fungoides-associated follicular mucinosis" EXACT [Orphanet:178512] -xref: ICD10CM:C84.0 {source="MONDO:subClassOf", source="ORDO:178512/ntbt", source="Orphanet:178512"} +xref: ICD10CM:C84.0 {source="MONDO:subClassOf", source="Orphanet:178512", source="Orphanet:178512/ntbt"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C35685 {source="MONDO:equivalentTo"} xref: Orphanet:178512 {source="MONDO:equivalentTo"} xref: SCTID:404109006 {source="MONDO:equivalentTo"} -xref: UMLS:C1627767 {source="ORDO:178512/e", source="MONDO:equivalentTo", source="NCIT:C35685", source="Orphanet:178512"} +xref: UMLS:C1627767 {source="MONDO:equivalentTo", source="NCIT:C35685", source="Orphanet:178512", source="Orphanet:178512/e"} is_a: MONDO:0015821 {source="MONDO:Redundant", source="Orphanet:178512", source="indirect"} ! mycosis fungoides and variants is_a: MONDO:0021655 {source="linkedlifedata"} ! secondary catabolic mucinosis of skin is_a: MONDO:0045071 {source="NCIT:C35685"} ! mycosis fungoides variant @@ -312363,13 +312204,13 @@ synonym: "localised reticulosis" EXACT [] synonym: "localized reticulosis" EXACT [] synonym: "pagetoid reticulosis" EXACT [NCIT:C35794] synonym: "pagetoid reticulosis, Woringer-Kolopp type" EXACT [Orphanet:178517] -xref: ICD10CM:C84.0 {source="ORDO:178517/ntbt", source="Orphanet:178517", source="MONDO:directSiblingOf"} +xref: ICD10CM:C84.0 {source="Orphanet:178517", source="Orphanet:178517/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D056267 {source="MONDO:equivalentTo", source="Orphanet:178517", source="ORDO:178517/e"} +xref: MESH:D056267 {source="Orphanet:178517/e", source="MONDO:equivalentTo", source="Orphanet:178517"} xref: NCIT:C35794 {source="MONDO:equivalentTo"} xref: Orphanet:178517 {source="MONDO:equivalentTo"} xref: SCTID:404120006 {source="MONDO:equivalentTo"} -xref: UMLS:C1276140 {source="MONDO:equivalentTo", source="Orphanet:178517", source="ORDO:178517/e"} +xref: UMLS:C1276140 {source="Orphanet:178517/e", source="MONDO:equivalentTo", source="Orphanet:178517"} is_a: MONDO:0015821 {source="Orphanet:178517", source="indirect"} ! mycosis fungoides and variants is_a: MONDO:0045071 {source="NCIT:C35794"} ! mycosis fungoides variant @@ -312377,7 +312218,7 @@ is_a: MONDO:0045071 {source="NCIT:C35794"} ! mycosis fungoides variant id: MONDO:0015810 name: primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma subset: ordo_disease {source="Orphanet:178522"} -xref: ICD10CM:C84.4 {source="MONDO:relatedTo", source="Orphanet:178522", source="ORDO:178522/ntbt"} +xref: ICD10CM:C84.4 {source="Orphanet:178522/ntbt", source="MONDO:relatedTo", source="Orphanet:178522"} xref: Orphanet:178522 {source="MONDO:equivalentTo"} is_a: MONDO:0015816 {source="Orphanet:178522"} ! indolent primary cutaneous T-cell lymphoma @@ -312388,7 +312229,7 @@ def: "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare subset: ordo_disease {source="Orphanet:178528"} synonym: "Berti lymphoma" EXACT [Orphanet:178528] synonym: "primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma" EXACT [Orphanet:178528] -xref: ICD10CM:C84.4 {source="ORDO:178528/ntbt", source="MONDO:relatedTo", source="Orphanet:178528"} +xref: ICD10CM:C84.4 {source="MONDO:relatedTo", source="Orphanet:178528", source="Orphanet:178528/ntbt"} xref: Orphanet:178528 {source="MONDO:equivalentTo"} xref: SCTID:765136002 {source="MONDO:equivalentTo"} is_a: MONDO:0015817 {source="Orphanet:178528"} ! aggressive primary cutaneous T-cell lymphoma @@ -312398,7 +312239,7 @@ id: MONDO:0015812 name: primary cutaneous gamma/delta-positive T-cell lymphoma def: "Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported." [Orphanet:178533] subset: ordo_disease {source="Orphanet:178533"} -xref: ICD10CM:C84.4 {source="MONDO:relatedTo", source="Orphanet:178533", source="ORDO:178533/ntbt"} +xref: ICD10CM:C84.4 {source="Orphanet:178533/ntbt", source="MONDO:relatedTo", source="Orphanet:178533"} xref: Orphanet:178533 {source="MONDO:equivalentTo"} is_a: MONDO:0015817 {source="Orphanet:178533"} ! aggressive primary cutaneous T-cell lymphoma @@ -312417,12 +312258,12 @@ synonym: "Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated l synonym: "Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230] synonym: "salt lymphoma" EXACT [NCIT:C7230] synonym: "skin-associated lymphoid tissue lymphoma" EXACT [NCIT:C7230] -xref: ICD10CM:C83.0 {source="ORDO:178536/ntbt", source="Orphanet:178536"} -xref: MESH:D018442 {source="ORDO:178536/e", source="Orphanet:178536"} +xref: ICD10CM:C83.0 {source="Orphanet:178536", source="Orphanet:178536/ntbt"} +xref: MESH:D018442 {source="Orphanet:178536", source="Orphanet:178536/e"} xref: NCIT:C7230 {source="MONDO:equivalentTo"} xref: Orphanet:178536 {source="MONDO:equivalentTo"} xref: SCTID:404140004 {source="MONDO:equivalentTo"} -xref: UMLS:C1275321 {source="MONDO:equivalentTo", source="ORDO:178536/e", source="Orphanet:178536"} +xref: UMLS:C1275321 {source="MONDO:equivalentTo", source="Orphanet:178536", source="Orphanet:178536/e"} is_a: MONDO:0015819 {source="Orphanet:178536"} ! indolent primary cutaneous B-cell lymphoma [Term] @@ -312435,14 +312276,14 @@ synonym: "cutaneous follicle center lymphoma" EXACT [NCIT:C7217] synonym: "cutaneous follicle centre lymphoma" EXACT [NCIT:C7217] synonym: "PCFCL" EXACT ABBREVIATION [ONCOTREE:PCFCL, Orphanet:178540] synonym: "Reticulohistiocytoma of the dorsum" EXACT [NCIT:C7217] -xref: ICD10CM:C82.6 {source="Orphanet:178540", source="ORDO:178540/e"} +xref: ICD10CM:C82.6 {source="Orphanet:178540", source="Orphanet:178540/e"} xref: ICDO:9597/3 {source="NCIT:C7217"} xref: NCIT:C7217 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PCFCL {source="MONDO:equivalentTo"} xref: Orphanet:178540 {source="MONDO:equivalentTo"} xref: SCTID:404143002 {source="MONDO:equivalentTo"} -xref: UMLS:C1333171 {source="Orphanet:178540", source="ORDO:178540/e", source="MONDO:equivalentTo"} -xref: UMLS:C1631066 {source="Orphanet:178540", source="ORDO:178540/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1333171 {source="Orphanet:178540", source="MONDO:equivalentTo", source="Orphanet:178540/e"} +xref: UMLS:C1631066 {source="Orphanet:178540", source="Orphanet:178540/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015819 {source="Orphanet:178540"} ! indolent primary cutaneous B-cell lymphoma [Term] @@ -312493,7 +312334,7 @@ subset: ordo_group_of_disorders {source="Orphanet:178563"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:178563 {source="MONDO:equivalentTo"} xref: SCTID:402881008 {source="MONDO:equivalentTo"} -xref: UMLS:C1274310 {source="ORDO:178563/e", source="Orphanet:178563", source="MONDO:equivalentTo"} +xref: UMLS:C1274310 {source="Orphanet:178563", source="MONDO:equivalentTo", source="Orphanet:178563/e"} is_a: MONDO:0018898 {source="Orphanet:178563", source="linkedlifedata"} ! primary cutaneous lymphoma [Term] @@ -312502,7 +312343,7 @@ name: mycosis fungoides and variants def: "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." [Orphanet:178566] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:178566"} -xref: ICD10CM:C84.0 {source="Orphanet:178566", source="ORDO:178566/ntbt", source="MONDO:superClassOf"} +xref: ICD10CM:C84.0 {source="Orphanet:178566/ntbt", source="Orphanet:178566", source="MONDO:superClassOf"} xref: Orphanet:178566 {source="MONDO:equivalentTo"} xref: UMLS:CN226743 {source="MONDO:equivalentTo"} is_a: MONDO:0015816 {source="Orphanet:178566"} ! indolent primary cutaneous T-cell lymphoma @@ -312542,12 +312383,12 @@ synonym: "oculomaxillofacial dysplasia with oblique facial clefts" RELATED [GARD synonym: "Richieri Costa Gorlin syndrome" RELATED [GARD:0004046] synonym: "Richieri-Costa-Gorlin syndrome" EXACT [Orphanet:1794] xref: GARD:0004046 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.1 {source="Orphanet:1794", source="ORDO:1794/attributed", source="ORDO:1794/ntbt"} -xref: MESH:C537736 {source="Orphanet:1794", source="ORDO:1794/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q75.1 {source="Orphanet:1794", source="Orphanet:1794/attributed", source="Orphanet:1794/ntbt"} +xref: MESH:C537736 {source="Orphanet:1794", source="MONDO:equivalentTo", source="Orphanet:1794/e"} xref: OMIM:600251 {source="MONDO:superClassOf", source="GARD:0004046"} xref: Orphanet:1794 {source="MONDO:equivalentTo", source="GARD:0004046"} xref: SCTID:763830009 {source="MONDO:equivalentTo"} -xref: UMLS:C1838348 {source="Orphanet:1794", source="ORDO:1794/e", source="MONDO:equivalentTo", source="GARD:0004046"} +xref: UMLS:C1838348 {source="Orphanet:1794", source="MONDO:equivalentTo", source="Orphanet:1794/e", source="GARD:0004046"} is_a: MONDO:0015335 {source="Orphanet:1794"} ! orofacial clefting syndrome is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin @@ -312556,7 +312397,7 @@ id: MONDO:0015825 name: obsolete obesity due to congenital leptin resistance comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: genetic non-syndromic obesity' subset: ordo_group_of_disorders {source="Orphanet:179490"} -xref: ICD10CM:E66.8 {source="ORDO:179490/attributed", source="ORDO:179490/ntbt", source="Orphanet:179490"} +xref: ICD10CM:E66.8 {source="Orphanet:179490/attributed", source="Orphanet:179490/ntbt", source="Orphanet:179490"} xref: Orphanet:179490 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -312570,8 +312411,8 @@ def: "Autosomal dominant spondylocostal dysostosis is a very rare and mild form subset: ordo_malformation_syndrome {source="Orphanet:1797"} synonym: "autosomal dominant spondylocostal dysplasia" EXACT [Orphanet:1797] synonym: "spondylocostal dysostosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:Q76.4 {source="ORDO:1797/attributed", source="ORDO:1797/ntbt", source="Orphanet:1797"} -xref: OMIM:122600 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:1797/ntbt", source="Orphanet:1797"} +xref: ICD10CM:Q76.4 {source="Orphanet:1797", source="Orphanet:1797/attributed", source="Orphanet:1797/ntbt"} +xref: OMIM:122600 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:1797", source="Orphanet:1797/ntbt"} xref: Orphanet:1797 {source="MONDO:equivalentTo"} xref: SCTID:716232002 {source="MONDO:equivalentTo"} xref: UMLS:C4274761 {source="MONDO:equivalentTo"} @@ -312597,17 +312438,17 @@ synonym: "renal tubular acidosis type 1" EXACT [Orphanet:18] synonym: "renal tubular acidosis, distal" RELATED [GARD:0004667] xref: GARD:0004667 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0008341 {source="MONDO:otherHierarchy"} -xref: ICD10CM:N25.8 {source="ORDO:18/attributed", source="ORDO:18/ntbt", source="Orphanet:18"} +xref: ICD10CM:N25.8 {source="Orphanet:18", source="Orphanet:18/attributed", source="Orphanet:18/ntbt"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10045224 {source="Orphanet:18", source="ORDO:18/e"} -xref: OMIM:179800 {source="ORDO:18/btnt", source="MONDO:superClassOf", source="Orphanet:18"} -xref: OMIM:267300 {source="ORDO:18/btnt", source="MONDO:superClassOf", source="Orphanet:18"} -xref: OMIM:602722 {source="ORDO:18/btnt", source="MONDO:superClassOf", source="Orphanet:18"} -xref: OMIM:611590 {source="ORDO:18/btnt", source="MONDO:superClassOf", source="Orphanet:18"} +xref: MedDRA:10045224 {source="Orphanet:18", source="Orphanet:18/e"} +xref: OMIM:179800 {source="MONDO:superClassOf", source="Orphanet:18", source="Orphanet:18/btnt"} +xref: OMIM:267300 {source="MONDO:superClassOf", source="Orphanet:18", source="Orphanet:18/btnt"} +xref: OMIM:602722 {source="MONDO:superClassOf", source="Orphanet:18", source="Orphanet:18/btnt"} +xref: OMIM:611590 {source="MONDO:superClassOf", source="Orphanet:18", source="Orphanet:18/btnt"} xref: OMIMPS:179800 {source="MONDO:equivalentTo"} xref: Orphanet:18 {source="MONDO:equivalentTo"} xref: SCTID:236461000 {source="MONDO:equivalentTo"} -xref: UMLS:C0259810 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:18", source="ORDO:18/e"} +xref: UMLS:C0259810 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:18", source="Orphanet:18/e"} xref: UMLS:C1704380 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:18"} is_a: MONDO:0017828 {source="Orphanet:18"} ! primary renal tubular acidosis relationship: has_modifier MONDO:0021152 {source="OMIMPS:179800"} ! inherited @@ -312643,7 +312484,7 @@ subset: ordo_group_of_disorders {source="Orphanet:180068"} synonym: "incomplete bilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180068] synonym: "incomplete bilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180068] synonym: "partial bilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180068] -xref: ICD10CM:Q51.8 {source="ORDO:180068/attributed", source="ORDO:180068/ntbt", source="Orphanet:180068"} +xref: ICD10CM:Q51.8 {source="Orphanet:180068", source="Orphanet:180068/attributed", source="Orphanet:180068/ntbt"} xref: Orphanet:180068 {source="MONDO:equivalentTo"} is_a: MONDO:0019128 {source="Orphanet:180068"} ! mullerian aplasia @@ -312654,7 +312495,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180071"} synonym: "unicornuate uterus" EXACT [Orphanet:180071] synonym: "unilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180071] -xref: ICD10CM:Q51.4 {source="ORDO:180071/specific", source="Orphanet:180071", source="ORDO:180071/e"} +xref: ICD10CM:Q51.4 {source="Orphanet:180071", source="Orphanet:180071/e", source="Orphanet:180071/specific"} xref: Orphanet:180071 {source="MONDO:equivalentTo"} is_a: MONDO:0019128 {source="Orphanet:180071"} ! mullerian aplasia @@ -312668,7 +312509,7 @@ synonym: "complete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:1 synonym: "complete unilateral Mullerian aplasia" EXACT [Orphanet:180074] synonym: "complete unilateral Müllerian aplasia" EXACT [Orphanet:180074] synonym: "unicornuate uterus without rudimentary horn" EXACT [Orphanet:180074] -xref: ICD10CM:Q51.4 {source="ORDO:180074/attributed", source="ORDO:180074/ntbt", source="Orphanet:180074"} +xref: ICD10CM:Q51.4 {source="Orphanet:180074", source="Orphanet:180074/attributed", source="Orphanet:180074/ntbt"} xref: Orphanet:180074 {source="MONDO:equivalentTo"} is_a: MONDO:0015831 {source="Orphanet:180074"} ! unilateral aplasia of the mullerian ducts @@ -312682,7 +312523,7 @@ synonym: "incomplete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet synonym: "incomplete unilateral Mullerian aplasia" EXACT [Orphanet:180079] synonym: "incomplete unilateral Müllerian aplasia" EXACT [Orphanet:180079] synonym: "unicornuate uterus with rudimentary horn" EXACT [Orphanet:180079] -xref: ICD10CM:Q51.4 {source="ORDO:180079/attributed", source="ORDO:180079/ntbt", source="Orphanet:180079"} +xref: ICD10CM:Q51.4 {source="Orphanet:180079", source="Orphanet:180079/attributed", source="Orphanet:180079/ntbt"} xref: Orphanet:180079 {source="MONDO:equivalentTo"} is_a: MONDO:0015831 {source="Orphanet:180079"} ! unilateral aplasia of the mullerian ducts @@ -312691,19 +312532,19 @@ id: MONDO:0015834 name: didelphys uterus subset: ordo_morphological_anomaly {source="Orphanet:180086"} synonym: "Bicervical bicornuate uterus" EXACT [Orphanet:180086] -xref: ICD10CM:Q51.1 {source="Orphanet:180086", source="ORDO:180086/e"} +xref: ICD10CM:Q51.1 {source="Orphanet:180086", source="Orphanet:180086/e"} xref: ICD9:752.2 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10012770 {source="Orphanet:180086", source="ORDO:180086/e"} +xref: MedDRA:10012770 {source="Orphanet:180086", source="Orphanet:180086/e"} xref: Orphanet:180086 {source="MONDO:equivalentTo"} xref: SCTID:15545001 {source="MONDO:equivalentTo"} -xref: UMLS:C0266393 {source="Orphanet:180086", source="MONDO:notFoundInDiseaseSubset", source="ORDO:180086/e"} +xref: UMLS:C0266393 {source="Orphanet:180086", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180086/e"} is_a: MONDO:0015842 {source="Orphanet:180086"} ! bicornuate uterus [Term] id: MONDO:0015835 name: Bicervical bicornuate uterus and blind hemivagina subset: ordo_clinical_subtype {source="Orphanet:180106"} -xref: ICD10CM:Q51.1 {source="Orphanet:180106", source="ORDO:180106/ntbt"} +xref: ICD10CM:Q51.1 {source="Orphanet:180106", source="Orphanet:180106/ntbt"} xref: Orphanet:180106 {source="MONDO:equivalentTo"} is_a: MONDO:0015834 {source="Orphanet:180106"} ! didelphys uterus @@ -312711,7 +312552,7 @@ is_a: MONDO:0015834 {source="Orphanet:180106"} ! didelphys uterus id: MONDO:0015836 name: Bicervical bicornuate uterus with patent cervix and vagina subset: ordo_clinical_subtype {source="Orphanet:180111"} -xref: ICD10CM:Q51.1 {source="ORDO:180111/ntbt", source="Orphanet:180111"} +xref: ICD10CM:Q51.1 {source="Orphanet:180111/ntbt", source="Orphanet:180111"} xref: Orphanet:180111 {source="MONDO:equivalentTo"} is_a: MONDO:0015834 {source="Orphanet:180111"} ! didelphys uterus @@ -312720,7 +312561,7 @@ id: MONDO:0015837 name: Unicervical bicornuate uterus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180114"} -xref: ICD10CM:Q51.3 {source="Orphanet:180114", source="ORDO:180114/ntbt"} +xref: ICD10CM:Q51.3 {source="Orphanet:180114/ntbt", source="Orphanet:180114"} xref: Orphanet:180114 {source="MONDO:equivalentTo"} is_a: MONDO:0015842 {source="Orphanet:180114"} ! bicornuate uterus @@ -312730,10 +312571,10 @@ name: cordiform uterus subset: ordo_morphological_anomaly {source="Orphanet:180118"} synonym: "uterus arcuatus" EXACT [Orphanet:180118] synonym: "uterus cordiformis" EXACT [Orphanet:180118] -xref: ICD10CM:Q51.3 {source="Orphanet:180118", source="ORDO:180118/ntbt"} +xref: ICD10CM:Q51.3 {source="Orphanet:180118", source="Orphanet:180118/ntbt"} xref: Orphanet:180118 {source="MONDO:equivalentTo"} xref: SCTID:14689000 {source="MONDO:equivalentTo"} -xref: UMLS:C0266397 {source="Orphanet:180118", source="ORDO:180118/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266397 {source="Orphanet:180118", source="Orphanet:180118/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015837 {source="Orphanet:180118"} ! Unicervical bicornuate uterus [Term] @@ -312741,11 +312582,11 @@ id: MONDO:0015839 name: septate uterus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180122"} -xref: ICD10CM:Q51.2 {source="ORDO:180122/ntbt", source="Orphanet:180122"} -xref: MedDRA:10062606 {source="ORDO:180122/e", source="Orphanet:180122"} +xref: ICD10CM:Q51.2 {source="Orphanet:180122/ntbt", source="Orphanet:180122"} +xref: MedDRA:10062606 {source="Orphanet:180122/e", source="Orphanet:180122"} xref: Orphanet:180122 {source="MONDO:equivalentTo"} xref: SCTID:22504001 {source="MONDO:equivalentTo"} -xref: UMLS:C0152240 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:180122/e", source="Orphanet:180122"} +xref: UMLS:C0152240 {source="Orphanet:180122/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180122"} is_a: MONDO:0015829 {source="Orphanet:180122"} ! non-syndromic uterovaginal malformation is_a: MONDO:0021124 ! female infertility relationship: has_modifier MONDO:0021136 ! rare @@ -312756,7 +312597,7 @@ name: complete septate uterus def: "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." [Orphanet:180126] subset: ordo_morphological_anomaly {source="Orphanet:180126"} synonym: "total septate uterus" EXACT [Orphanet:180126] -xref: ICD10CM:Q51.2 {source="ORDO:180126/ntbt", source="Orphanet:180126"} +xref: ICD10CM:Q51.2 {source="Orphanet:180126/ntbt", source="Orphanet:180126"} xref: Orphanet:180126 {source="MONDO:equivalentTo"} is_a: MONDO:0015839 {source="Orphanet:180126"} ! septate uterus @@ -312767,7 +312608,7 @@ def: "Partial septate uterus is a rare, non-syndromic uterovaginal malformation subset: ordo_morphological_anomaly {source="Orphanet:180129"} synonym: "subtotal septate uterus" EXACT [Orphanet:180129] synonym: "uterus subseptus" EXACT [Orphanet:180129] -xref: ICD10CM:Q51.2 {source="Orphanet:180129", source="ORDO:180129/ntbt"} +xref: ICD10CM:Q51.2 {source="Orphanet:180129", source="Orphanet:180129/ntbt"} xref: Orphanet:180129 {source="MONDO:equivalentTo"} xref: SCTID:5364006 {source="MONDO:equivalentTo"} is_a: MONDO:0015839 {source="Orphanet:180129", source="linkedlifedata"} ! septate uterus @@ -312777,28 +312618,28 @@ id: MONDO:0015842 name: bicornuate uterus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180134"} -xref: ICD10CM:Q51.3 {source="Orphanet:180134", source="ORDO:180134/e"} -xref: MedDRA:10004550 {source="Orphanet:180134", source="ORDO:180134/e"} +xref: ICD10CM:Q51.3 {source="Orphanet:180134/e", source="Orphanet:180134"} +xref: MedDRA:10004550 {source="Orphanet:180134/e", source="Orphanet:180134"} xref: Orphanet:180134 {source="MONDO:equivalentTo"} xref: SCTID:31401003 {source="MONDO:equivalentTo"} -xref: UMLS:C0266387 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180134", source="ORDO:180134/e"} +xref: UMLS:C0266387 {source="Orphanet:180134/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180134"} is_a: MONDO:0015829 {source="Orphanet:180134"} ! non-syndromic uterovaginal malformation [Term] id: MONDO:0015843 name: uterine hypoplasia subset: ordo_morphological_anomaly {source="Orphanet:180139"} -xref: ICD10CM:Q51.8 {source="Orphanet:180139", source="ORDO:180139/ntbt"} -xref: MedDRA:10063146 {source="Orphanet:180139", source="ORDO:180139/e"} +xref: ICD10CM:Q51.8 {source="Orphanet:180139", source="Orphanet:180139/ntbt"} +xref: MedDRA:10063146 {source="Orphanet:180139", source="Orphanet:180139/e"} xref: Orphanet:180139 {source="MONDO:equivalentTo"} -xref: UMLS:C0266399 {source="Orphanet:180139", source="MONDO:notFoundInDiseaseSubset", source="ORDO:180139/e"} +xref: UMLS:C0266399 {source="Orphanet:180139", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180139/e"} is_a: MONDO:0015829 {source="Orphanet:180139"} ! non-syndromic uterovaginal malformation [Term] id: MONDO:0015844 name: agenesis and aplasia of uterine body subset: ordo_morphological_anomaly {source="Orphanet:180142"} -xref: ICD10CM:Q51.0 {source="ORDO:180142/e", source="Orphanet:180142"} +xref: ICD10CM:Q51.0 {source="Orphanet:180142", source="Orphanet:180142/e"} xref: Orphanet:180142 {source="MONDO:equivalentTo"} is_a: MONDO:0015829 {source="Orphanet:180142"} ! non-syndromic uterovaginal malformation is_a: MONDO:0021124 ! female infertility @@ -312808,7 +312649,7 @@ relationship: has_modifier MONDO:0021136 ! rare id: MONDO:0015845 name: uterine cervical aplasia and agenesis subset: ordo_morphological_anomaly {source="Orphanet:180145"} -xref: ICD10CM:Q51.5 {source="Orphanet:180145", source="ORDO:180145/e"} +xref: ICD10CM:Q51.5 {source="Orphanet:180145/e", source="Orphanet:180145"} xref: Orphanet:180145 {source="MONDO:equivalentTo"} is_a: MONDO:0015829 {source="Orphanet:180145"} ! non-syndromic uterovaginal malformation is_a: MONDO:0021124 ! female infertility @@ -312847,11 +312688,11 @@ name: septate vagina comment: Editor note: consider ceding this and subclasses to HPO subset: ordo_morphological_anomaly {source="Orphanet:180154"} xref: HP:0001153 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q52.1 {source="ORDO:180154/ntbt", source="Orphanet:180154"} +xref: ICD10CM:Q52.1 {source="Orphanet:180154", source="Orphanet:180154/ntbt"} xref: ICD9:752.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:180154 {source="MONDO:equivalentTo"} xref: SCTID:47054003 {source="MONDO:equivalentTo"} -xref: UMLS:C0266411 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180154", source="ORDO:180154/e"} +xref: UMLS:C0266411 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180154", source="Orphanet:180154/e"} is_a: MONDO:0002263 {source="MONDO:0015847-obsoleted"} ! female reproductive system disorder is_a: MONDO:0015932 {source="MONDO:0015847-obsoleted"} ! non-syndromic urogenital tract malformation of female is_a: MONDO:0021124 {source="MONDO:0015847-obsoleted"} ! female infertility @@ -312862,7 +312703,7 @@ id: MONDO:0015849 name: longitudinal vaginal septum subset: ordo_clinical_subtype {source="Orphanet:180157"} xref: HP:0008740 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q52.1 {source="ORDO:180157/ntbt", source="Orphanet:180157"} +xref: ICD10CM:Q52.1 {source="Orphanet:180157/ntbt", source="Orphanet:180157"} xref: Orphanet:180157 {source="MONDO:equivalentTo"} is_a: MONDO:0015848 {source="Orphanet:180157"} ! septate vagina @@ -312871,7 +312712,7 @@ id: MONDO:0015850 name: transverse vaginal septum subset: ordo_clinical_subtype {source="Orphanet:180160"} xref: HP:0000145 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q52.1 {source="Orphanet:180160", source="ORDO:180160/ntbt"} +xref: ICD10CM:Q52.1 {source="Orphanet:180160/ntbt", source="Orphanet:180160"} xref: ICD10CM:Q52.11 {source="MONDO:equivalentTo"} xref: Orphanet:180160 {source="MONDO:equivalentTo"} is_a: MONDO:0015848 {source="Orphanet:180160"} ! septate vagina @@ -312913,10 +312754,10 @@ name: supernumerary breasts subset: ordo_morphological_anomaly {source="Orphanet:180182"} synonym: "accessory breasts" EXACT [Orphanet:180182] synonym: "polymastia" EXACT [Orphanet:180182] -xref: ICD10CM:Q83.1 {source="ORDO:180182/e", source="Orphanet:180182"} -xref: MedDRA:10049786 {source="ORDO:180182/e", source="Orphanet:180182"} +xref: ICD10CM:Q83.1 {source="Orphanet:180182", source="Orphanet:180182/e"} +xref: MedDRA:10049786 {source="Orphanet:180182", source="Orphanet:180182/e"} xref: Orphanet:180182 {source="MONDO:equivalentTo"} -xref: UMLS:C0266010 {source="ORDO:180182/e", source="Orphanet:180182", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266010 {source="Orphanet:180182", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180182/e"} is_a: MONDO:0015852 {source="Orphanet:180182"} ! excess breast volume or number [Term] @@ -312925,9 +312766,9 @@ name: isolated congenital breast hypoplasia/aplasia subset: ordo_morphological_anomaly {source="Orphanet:180188"} synonym: "breasts and/or nipples, aplasia or hypoplasia of" EXACT [OMIMPS:113700] synonym: "isolated congenital amastia" EXACT [Orphanet:180188] -xref: ICD10CM:Q83.0 {source="ORDO:180188/e", source="Orphanet:180188", source="ORDO:180188/specific"} -xref: OMIM:113700 {source="ORDO:180188/btnt", source="MONDO:superClassOf", source="Orphanet:180188"} -xref: OMIM:616001 {source="ORDO:180188/btnt", source="MONDO:superClassOf", source="Orphanet:180188"} +xref: ICD10CM:Q83.0 {source="Orphanet:180188/e", source="Orphanet:180188/specific", source="Orphanet:180188"} +xref: OMIM:113700 {source="MONDO:superClassOf", source="Orphanet:180188/btnt", source="Orphanet:180188"} +xref: OMIM:616001 {source="MONDO:superClassOf", source="Orphanet:180188/btnt", source="Orphanet:180188"} xref: OMIMPS:113700 {source="MONDO:equivalentTo"} xref: Orphanet:180188 {source="MONDO:equivalentTo"} xref: UMLS:C0432357 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180188"} @@ -313022,7 +312863,7 @@ synonym: "gonadal polyembryoma" RELATED [GARD:0009621] xref: GARD:0009621 {source="MONDO:equivalentTo"} xref: NCIT:C66776 {source="MONDO:equivalentTo"} xref: Orphanet:180229 {source="MONDO:equivalentTo"} -xref: UMLS:C0334518 {source="ORDO:180229/e", source="Orphanet:180229", source="MONDO:equivalentTo"} +xref: UMLS:C0334518 {source="Orphanet:180229", source="MONDO:equivalentTo", source="Orphanet:180229/e"} is_a: MONDO:0006290 {source="NCIT:C66776"} ! malignant germ cell tumor is_a: MONDO:0020539 {source="Orphanet:180229"} ! extragonadal non-dysgerminomatous germ cell tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9621/polyembryoma xsd:anyURI {source="GARD:0009621"} @@ -313046,7 +312887,7 @@ xref: NCIT:C9010 {source="MONDO:superClassOf", source="DOID:3306"} xref: Orphanet:180234 {source="MONDO:equivalentTo"} xref: SCTID:189853002 {source="DOID:3306"} xref: SCTID:32844007 {source="DOID:3306"} -xref: UMLS:C0334524 {source="MONDO:equivalentTo", source="DOID:3306", source="ORDO:180234/e", source="NCIT:C4290", source="Orphanet:180234"} +xref: UMLS:C0334524 {source="Orphanet:180234/e", source="MONDO:equivalentTo", source="DOID:3306", source="NCIT:C4290", source="Orphanet:180234"} is_a: MONDO:0005040 {source="DOID:3306", source="MONDO:0015864/inferred", source="NCIT:C4290/inferred"} ! germ cell tumor is_a: MONDO:0006290 {source="NCIT:C4290"} ! malignant germ cell tumor relationship: excluded_subClassOf MONDO:0020539 {source="Orphanet:180234"} ! extragonadal non-dysgerminomatous germ cell tumor @@ -313079,10 +312920,10 @@ synonym: "vaginal cancer, NOS" BROAD [NCIT:C3917] synonym: "vaginal carcinoma" EXACT [NCIT:C3917] synonym: "vaginal malignant epithelial tumor" BROAD [Orphanet:180247] xref: DOID:0050918 {source="MONDO:equivalentTo"} -xref: ICD10CM:C52 {source="ORDO:180247/ntbt", source="Orphanet:180247"} +xref: ICD10CM:C52 {source="Orphanet:180247/ntbt", source="Orphanet:180247"} xref: NCIT:C3917 {source="MONDO:equivalentTo"} xref: Orphanet:180247 {source="MONDO:equivalentTo"} -xref: UMLS:C0262659 {source="NCIT:C3917", source="MONDO:equivalentTo", source="ORDO:180247/e", source="Orphanet:180247"} +xref: UMLS:C0262659 {source="NCIT:C3917", source="Orphanet:180247/e", source="MONDO:equivalentTo", source="Orphanet:180247"} is_a: MONDO:0001402 {source="DOID:0050918", source="MONDO:Redundant", source="NCIT:C3917"} ! vaginal cancer is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C3917", source="OWLReasoner:2017"} ! carcinoma is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm @@ -313162,9 +313003,9 @@ synonym: "phyllodes tumor, benign" EXACT EXCLUDE [DOID:1631] synonym: "phyllodes tumor, benign (morphologic abnormality)" BROAD [DOID:1631] synonym: "phylloide tumor of the breast" EXACT [Orphanet:180261] xref: DOID:1631 {source="MONDO:equivalentTo"} -xref: ICD10CM:D48.6 {source="DOID:1631", source="ORDO:180261/ntbt", source="Orphanet:180261"} -xref: MedDRA:10011813 {source="ORDO:180261/e", source="Orphanet:180261"} -xref: MESH:D003557 {source="MONDO:subClassOf", source="ORDO:180261/e", source="DOID:1631", source="Orphanet:180261"} +xref: ICD10CM:D48.6 {source="DOID:1631", source="Orphanet:180261", source="Orphanet:180261/ntbt"} +xref: MedDRA:10011813 {source="Orphanet:180261", source="Orphanet:180261/e"} +xref: MESH:D003557 {source="MONDO:subClassOf", source="DOID:1631", source="Orphanet:180261", source="Orphanet:180261/e"} xref: NCIT:C5196 {source="MONDO:equivalentTo"} xref: ONCOTREE:BPT {source="MONDO:equivalentTo"} xref: Orphanet:180261 {source="MONDO:equivalentTo"} @@ -313175,7 +313016,7 @@ xref: SCTID:189825002 {source="DOID:1631"} xref: SCTID:269651007 {source="DOID:1631"} xref: SCTID:71232009 {source="DOID:1631"} xref: SCTID:720344007 {source="MONDO:equivalentTo"} -xref: UMLS:C0010701 {source="ORDO:180261/e", source="DOID:1631", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180261"} +xref: UMLS:C0010701 {source="DOID:1631", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180261", source="Orphanet:180261/e"} xref: UMLS:C0334501 {source="DOID:1631", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1332533 {source="NCIT:C5196", source="MONDO:equivalentTo", source="DOID:1631"} is_a: MONDO:0000620 {source="DOID:1631", source="MONDO:Redundant", source="NCIT:C5196", source="Orphanet:180261", source="indirect", source="linkedlifedata"} ! breast benign neoplasm @@ -313190,7 +313031,7 @@ id: MONDO:0015872 name: giant adenofibroma of the breast def: "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." [Orphanet:180267] subset: ordo_disease {source="Orphanet:180267"} -xref: ICD10CM:D24 {source="ORDO:180267/ntbt", source="Orphanet:180267"} +xref: ICD10CM:D24 {source="Orphanet:180267/ntbt", source="Orphanet:180267"} xref: Orphanet:180267 {source="MONDO:equivalentTo"} xref: UMLS:CN200476 {source="MONDO:equivalentTo"} is_a: MONDO:0000620 {source="Orphanet:180267"} ! breast benign neoplasm @@ -313210,15 +313051,15 @@ synonym: "Paget's disease of the nipple" EXACT [NCIT:C3301, Orphanet:180275] synonym: "Paget's disease, mammary" RELATED [GARD:0007303] synonym: "PD" RELATED ABBREVIATION [ONCOTREE:PD] xref: GARD:0007303 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C50.0 {source="ORDO:180275/ntbt", source="Orphanet:180275"} -xref: MedDRA:10033367 {source="Orphanet:180275", source="ORDO:180275/e"} -xref: MESH:D010144 {source="Orphanet:180275", source="ORDO:180275/e"} +xref: ICD10CM:C50.0 {source="Orphanet:180275", source="Orphanet:180275/ntbt"} +xref: MedDRA:10033367 {source="Orphanet:180275", source="Orphanet:180275/e"} +xref: MESH:D010144 {source="Orphanet:180275", source="Orphanet:180275/e"} xref: NCIT:C3301 {source="MONDO:equivalentTo"} xref: ONCOTREE:PD {source="MONDO:equivalentTo"} xref: Orphanet:180275 {source="MONDO:equivalentTo"} xref: SCTID:403946000 {source="MONDO:equivalentTo"} -xref: UMLS:C0030185 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180275", source="ORDO:180275/e"} -xref: UMLS:C1704323 {source="MONDO:equivalentTo", source="NCIT:C3301", source="Orphanet:180275", source="ORDO:180275/e"} +xref: UMLS:C0030185 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180275", source="Orphanet:180275/e"} +xref: UMLS:C1704323 {source="MONDO:equivalentTo", source="NCIT:C3301", source="Orphanet:180275", source="Orphanet:180275/e"} is_a: MONDO:0002648 {source="NCIT:C3301"} ! mammary Paget disease is_a: MONDO:0003950 {source="NCIT:C3301"} ! nipple carcinoma is_a: MONDO:0007254 {source="MONDO:Redundant", source="Orphanet:180275"} ! breast cancer @@ -313228,7 +313069,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015870"} ! rare id: MONDO:0015874 name: benign ductal tumor of breast subset: ordo_disease {source="Orphanet:180284"} -xref: ICD10CM:D24 {source="ORDO:180284/ntbt", source="Orphanet:180284"} +xref: ICD10CM:D24 {source="Orphanet:180284", source="Orphanet:180284/ntbt"} xref: Orphanet:180284 {source="MONDO:equivalentTo"} xref: UMLS:CN200479 {source="MONDO:equivalentTo"} is_a: MONDO:0021100 {source="Orphanet:180284"} ! breast neoplasm @@ -313346,8 +313187,8 @@ xref: Orphanet:180824 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0021040 -consider: MedDRA:10061902 {source="Orphanet:180824", source="ORDO:180824/e"} -consider: UMLS:C0030297 {source="Orphanet:180824", source="ORDO:180824/e"} +consider: MedDRA:10061902 {source="Orphanet:180824", source="Orphanet:180824/e"} +consider: UMLS:C0030297 {source="Orphanet:180824", source="Orphanet:180824/e"} [Term] id: MONDO:0015883 @@ -313360,7 +313201,7 @@ synonym: "Halal-Setton-Wang syndrome" EXACT [Orphanet:1809] synonym: "hidrotic ectodermal dysplasia Halal type" RELATED [GARD:0000280] synonym: "trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome" EXACT [Orphanet:1809] xref: GARD:0000280 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:1809", source="ORDO:1809/attributed", source="ORDO:1809/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:1809/attributed", source="Orphanet:1809/ntbt", source="Orphanet:1809"} xref: MESH:C535621 {source="MONDO:equivalentTo"} xref: Orphanet:1809 {source="MONDO:equivalentTo"} xref: SCTID:721147000 {source="MONDO:equivalentTo"} @@ -313375,11 +313216,11 @@ subset: ordo_etiological_subtype {source="Orphanet:1810"} synonym: "AD-HED" EXACT [Orphanet:1810] synonym: "autosomal dominant anhidrotic ectodermal dysplasia" EXACT [Orphanet:1810] synonym: "hypohidrotic ectodermal dysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:Q82.4 {source="ORDO:1810/attributed", source="ORDO:1810/ntbt", source="Orphanet:1810"} -xref: OMIM:129490 {source="ORDO:1810/btnt", source="MONDO:superClassOf", source="Orphanet:1810"} -xref: OMIM:614940 {source="ORDO:1810/btnt", source="MONDO:superClassOf", source="Orphanet:1810"} +xref: ICD10CM:Q82.4 {source="Orphanet:1810", source="Orphanet:1810/attributed", source="Orphanet:1810/ntbt"} +xref: OMIM:129490 {source="MONDO:superClassOf", source="Orphanet:1810", source="Orphanet:1810/btnt"} +xref: OMIM:614940 {source="MONDO:superClassOf", source="Orphanet:1810", source="Orphanet:1810/btnt"} xref: Orphanet:1810 {source="MONDO:equivalentTo"} -xref: UMLS:C0265331 {source="ORDO:1810/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1810"} +xref: UMLS:C0265331 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1810", source="Orphanet:1810/e"} is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:1810"} ! hypohidrotic ectodermal dysplasia intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -313489,10 +313330,10 @@ synonym: "GHIS" EXACT ABBREVIATION [Orphanet:181393] synonym: "Growth hormone insensitivity syndromes" EXACT [NCIT:C129867] synonym: "short stature due to a defect in growth hormone receptor or post-receptor pathway" EXACT [Orphanet:181393] xref: GARD:0003924 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E34.3 {source="Orphanet:181393", source="ORDO:181393/attributed", source="ORDO:181393/ntbt"} +xref: ICD10CM:E34.3 {source="Orphanet:181393/attributed", source="Orphanet:181393/ntbt", source="Orphanet:181393"} xref: NCIT:C129867 {source="MONDO:equivalentTo"} xref: Orphanet:181393 {source="MONDO:equivalentTo"} -xref: UMLS:C0271568 {source="Orphanet:181393", source="ORDO:181393/e", source="MONDO:equivalentTo", source="NCIT:C129867"} +xref: UMLS:C0271568 {source="Orphanet:181393", source="MONDO:equivalentTo", source="NCIT:C129867", source="Orphanet:181393/e"} xref: UMLS:C4318479 {source="MONDO:equivalentTo"} xref: UMLS:CN200504 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C129867"} ! syndromic disease @@ -313525,14 +313366,14 @@ xref: Orphanet:181399 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0004425 -consider: ICD10CM:E05.0 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.1 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.2 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.3 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.4 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.5 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.8 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} -consider: ICD10CM:E05.9 {source="ORDO:181399/btnt", source="ORDO:181399/specific", source="Orphanet:181399"} +consider: ICD10CM:E05.0 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.1 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.2 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.3 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.4 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.5 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.8 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} +consider: ICD10CM:E05.9 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} consider: UMLS:C0020550 {source="Orphanet:181399"} [Term] @@ -313560,10 +313401,10 @@ xref: Orphanet:181405 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0001220 -consider: ICD10CM:E20.0 {source="Orphanet:181405", source="ORDO:181405/btnt"} -consider: ICD10CM:E20.1 {source="Orphanet:181405", source="MONDO:superClassOf", source="ORDO:181405/btnt"} -consider: ICD10CM:E20.8 {source="Orphanet:181405", source="ORDO:181405/btnt"} -consider: ICD10CM:E20.9 {source="Orphanet:181405", source="ORDO:181405/btnt"} +consider: ICD10CM:E20.0 {source="Orphanet:181405", source="Orphanet:181405/btnt"} +consider: ICD10CM:E20.1 {source="Orphanet:181405", source="Orphanet:181405/btnt", source="MONDO:superClassOf"} +consider: ICD10CM:E20.8 {source="Orphanet:181405", source="Orphanet:181405/btnt"} +consider: ICD10CM:E20.9 {source="Orphanet:181405", source="Orphanet:181405/btnt"} consider: UMLS:C0020626 {source="Orphanet:181405"} [Term] @@ -313578,10 +313419,10 @@ xref: Orphanet:181408 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0001741 -consider: ICD10CM:E21.0 {source="Orphanet:181408", source="ORDO:181408/btnt"} -consider: ICD10CM:E21.1 {source="Orphanet:181408", source="ORDO:181408/btnt"} -consider: ICD10CM:E21.2 {source="Orphanet:181408", source="ORDO:181408/btnt"} -consider: ICD10CM:E21.3 {source="Orphanet:181408", source="ORDO:181408/btnt"} +consider: ICD10CM:E21.0 {source="Orphanet:181408/btnt", source="Orphanet:181408"} +consider: ICD10CM:E21.1 {source="Orphanet:181408/btnt", source="Orphanet:181408"} +consider: ICD10CM:E21.2 {source="Orphanet:181408/btnt", source="Orphanet:181408"} +consider: ICD10CM:E21.3 {source="Orphanet:181408/btnt", source="Orphanet:181408"} consider: UMLS:C0020502 {source="MONDO:subClassOf", source="Orphanet:181408"} [Term] @@ -313595,12 +313436,12 @@ synonym: "adrenogenital syndrome" EXACT [] synonym: "androgenital syndrome" EXACT [] synonym: "congenital adrenal hyperplasia" RELATED [Wikipedia:Congenital_adrenal_hyperplasia] xref: ICD9:255.2 {source="linkedlifedata"} -xref: MedDRA:10061630 {source="Orphanet:181412", source="ORDO:181412/e"} -xref: MESH:D047808 {source="MONDO:equivalentTo", source="Orphanet:181412", source="ORDO:181412/e"} +xref: MedDRA:10061630 {source="Orphanet:181412/e", source="Orphanet:181412"} +xref: MESH:D047808 {source="Orphanet:181412/e", source="MONDO:equivalentTo", source="Orphanet:181412"} xref: Orphanet:181412 {source="MONDO:equivalentTo"} xref: SCTID:267395000 {source="MONDO:equivalentTo"} -xref: UMLS:C0302280 {source="MONDO:equivalentTo", source="Orphanet:181412", source="ORDO:181412/e"} -xref: UMLS:C0701163 {source="MONDO:superClassOf", source="Orphanet:181412", source="ORDO:181412/e"} +xref: UMLS:C0302280 {source="Orphanet:181412/e", source="MONDO:equivalentTo", source="Orphanet:181412"} +xref: UMLS:C0701163 {source="Orphanet:181412/e", source="MONDO:superClassOf", source="Orphanet:181412"} xref: UMLS:CN200506 {source="MONDO:equivalentTo"} is_a: MONDO:0005495 {source="Orphanet:181412", source="indirect", source="linkedlifedata"} ! adrenal gland disorder relationship: disease_has_basis_in_disruption_of GO:0006694 ! steroid biosynthetic process @@ -313620,7 +313461,7 @@ xref: Orphanet:181415 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0001422 -consider: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:181415", source="ORDO:181415/ntbt"} +consider: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:181415", source="Orphanet:181415/ntbt"} consider: UMLS:C1384514 {source="Orphanet:181415"} [Term] @@ -313633,7 +313474,7 @@ subset: ordo_group_of_disorders {source="Orphanet:181419"} synonym: "hypoaldosteronism" RELATED [GARD:0002874] synonym: "rare hypoaldosteronism" EXACT [Orphanet:181419] xref: GARD:0002874 {source="MONDO:equivalentTo"} -xref: ICD10CM:E27.4 {source="Orphanet:181419", source="ORDO:181419/ntbt"} +xref: ICD10CM:E27.4 {source="Orphanet:181419/ntbt", source="Orphanet:181419"} xref: MESH:D006994 {source="MONDO:equivalentTo"} xref: Orphanet:181419 {source="MONDO:equivalentTo"} xref: SCTID:60086000 {source="MONDO:equivalentTo"} @@ -313652,12 +313493,12 @@ xref: Orphanet:181422 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0021187 -consider: ICD10CM:E78.0 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"} -consider: ICD10CM:E78.1 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"} -consider: ICD10CM:E78.2 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"} -consider: ICD10CM:E78.3 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"} -consider: ICD10CM:E78.4 {source="ORDO:181422/btnt", source="ORDO:181422/specific", source="Orphanet:181422"} -consider: ICD10CM:E78.5 {source="ORDO:181422/btnt", source="MONDO:relatedTo", source="ORDO:181422/specific", source="Orphanet:181422"} +consider: ICD10CM:E78.0 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} +consider: ICD10CM:E78.1 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} +consider: ICD10CM:E78.2 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} +consider: ICD10CM:E78.3 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} +consider: ICD10CM:E78.4 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} +consider: ICD10CM:E78.5 {source="Orphanet:181422/specific", source="MONDO:relatedTo", source="Orphanet:181422/btnt", source="Orphanet:181422"} consider: ICD9:272.4 {source="MONDO:relatedTo", source="i2s"} consider: UMLS:C0020473 {source="MONDO:relatedTo", source="Orphanet:181422"} @@ -313667,7 +313508,7 @@ name: major hypertriglyceridemia def: "Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." [Orphanet:181425] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181425"} -xref: ICD10CM:E78.1 {source="ORDO:181425/attributed", source="ORDO:181425/ntbt", source="Orphanet:181425"} +xref: ICD10CM:E78.1 {source="Orphanet:181425/attributed", source="Orphanet:181425/ntbt", source="Orphanet:181425"} xref: Orphanet:181425 {source="MONDO:equivalentTo"} is_a: MONDO:0021187 {source="Orphanet:181425"} ! hyperlipidemia relationship: has_modifier MONDO:0021136 {source="MONDO:0015901"} ! rare @@ -313679,12 +313520,12 @@ def: "An autosomal dominant genetic condition caused by mutation(s) in the CETP subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181428"} synonym: "HALP1" EXACT ABBREVIATION [NCIT:C128806] -xref: ICD10CM:E78.4 {source="Orphanet:181428", source="ORDO:181428/attributed", source="ORDO:181428/ntbt"} +xref: ICD10CM:E78.4 {source="Orphanet:181428/attributed", source="Orphanet:181428/ntbt", source="Orphanet:181428"} xref: ICD9:272.4 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C128806 {source="MONDO:equivalentTo"} xref: Orphanet:181428 {source="MONDO:equivalentTo"} xref: SCTID:238080004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342883 {source="ORDO:181428/e", source="Orphanet:181428", source="MONDO:equivalentTo", source="NCIT:C128806"} +xref: UMLS:C0342883 {source="Orphanet:181428", source="MONDO:equivalentTo", source="Orphanet:181428/e", source="NCIT:C128806"} is_a: MONDO:0021187 {source="Orphanet:181428"} ! hyperlipidemia is_a: MONDO:0037748 {source="NCIT:C128806"} ! hyperlipoproteinemia relationship: has_modifier MONDO:0021136 {source="MONDO:0015901"} ! rare @@ -313700,7 +313541,7 @@ xref: UMLS:CN226783 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundIn property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0000001 -consider: ICD10CM:E78.6 {source="ORDO:181431/attributed", source="ORDO:181431/ntbt", source="Orphanet:181431"} +consider: ICD10CM:E78.6 {source="Orphanet:181431/attributed", source="Orphanet:181431/ntbt", source="Orphanet:181431"} [Term] id: MONDO:0015905 @@ -313739,7 +313580,7 @@ name: epimetaphyseal skeletal dysplasia subset: gard_rare {source="GARD:0002176"} subset: ordo_malformation_syndrome {source="Orphanet:1819"} xref: GARD:0002176 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="Orphanet:1819", source="ORDO:1819/attributed", source="ORDO:1819/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:1819", source="Orphanet:1819/attributed", source="Orphanet:1819/ntbt"} xref: Orphanet:1819 {source="MONDO:equivalentTo"} is_a: MONDO:0019693 {source="Orphanet:1819"} ! multiple metaphyseal dysplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia xsd:anyURI {source="GARD:0002176"} @@ -313760,21 +313601,21 @@ synonym: "mossy foot disease" EXACT [DOID:1562] xref: DOID:1562 {source="EFO:0007207", source="MONDO:equivalentTo"} xref: EFO:0007207 {source="MONDO:equivalentTo"} xref: GARD:0001319 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:B43.0 {source="ORDO:182/btnt", source="Orphanet:182"} -xref: ICD10CM:B43.1 {source="ORDO:182/btnt", source="Orphanet:182"} -xref: ICD10CM:B43.2 {source="ORDO:182/btnt", source="Orphanet:182"} -xref: ICD10CM:B43.8 {source="ORDO:182/btnt", source="Orphanet:182"} -xref: ICD10CM:B43.9 {source="DOID:1562", source="ORDO:182/btnt", source="Orphanet:182"} +xref: ICD10CM:B43.0 {source="Orphanet:182", source="Orphanet:182/btnt"} +xref: ICD10CM:B43.1 {source="Orphanet:182", source="Orphanet:182/btnt"} +xref: ICD10CM:B43.2 {source="Orphanet:182", source="Orphanet:182/btnt"} +xref: ICD10CM:B43.8 {source="Orphanet:182", source="Orphanet:182/btnt"} +xref: ICD10CM:B43.9 {source="DOID:1562", source="Orphanet:182", source="Orphanet:182/btnt"} xref: ICD9:117.2 {source="DOID:1562", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10008803 {source="ORDO:182/e", source="Orphanet:182"} -xref: MESH:D002862 {source="DOID:1562", source="EFO:0007207", source="ORDO:182/e", source="MONDO:equivalentTo", source="Orphanet:182"} +xref: MedDRA:10008803 {source="Orphanet:182", source="Orphanet:182/e"} +xref: MESH:D002862 {source="DOID:1562", source="EFO:0007207", source="MONDO:equivalentTo", source="Orphanet:182", source="Orphanet:182/e"} xref: Orphanet:182 {source="MONDO:equivalentTo"} xref: SCTID:187079000 {source="DOID:1562", source="MONDO:equivalentTo"} xref: SCTID:187082005 {source="DOID:1562"} xref: SCTID:187490000 {source="DOID:1562"} xref: SCTID:238441002 {source="DOID:1562"} xref: SCTID:7255004 {source="DOID:1562"} -xref: UMLS:C0008582 {source="DOID:1562", source="ORDO:182/e", source="MONDO:equivalentTo", source="Orphanet:182"} +xref: UMLS:C0008582 {source="DOID:1562", source="MONDO:equivalentTo", source="Orphanet:182", source="Orphanet:182/e"} xref: UMLS:C3245522 {source="MONDO:equivalentTo"} is_a: MONDO:0000255 {source="DOID:1562", source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! subcutaneous mycosis is_a: MONDO:0002040 {source="MESH:D002862"} ! dermatomycosis @@ -313789,12 +313630,12 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182040"} xref: DOID:12449 {source="MONDO:equivalentTo"} xref: ICD10CM:D60-D64 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:D61.0 {source="ORDO:182040/specific", source="Orphanet:182040", source="MONDO:superClassOf", source="ORDO:182040/btnt"} -xref: ICD10CM:D61.1 {source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"} -xref: ICD10CM:D61.2 {source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"} -xref: ICD10CM:D61.3 {source="ORDO:182040/specific", source="Orphanet:182040", source="MONDO:superClassOf", source="ORDO:182040/btnt"} -xref: ICD10CM:D61.8 {source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"} -xref: ICD10CM:D61.9 {source="DOID:12449", source="ORDO:182040/specific", source="Orphanet:182040", source="ORDO:182040/btnt"} +xref: ICD10CM:D61.0 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="MONDO:superClassOf", source="Orphanet:182040/specific"} +xref: ICD10CM:D61.1 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"} +xref: ICD10CM:D61.2 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"} +xref: ICD10CM:D61.3 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="MONDO:superClassOf", source="Orphanet:182040/specific"} +xref: ICD10CM:D61.8 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"} +xref: ICD10CM:D61.9 {source="DOID:12449", source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"} xref: ICD9:284.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:284.9 {source="DOID:12449", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D000741 {source="DOID:12449", source="MONDO:equivalentTo"} @@ -313842,15 +313683,15 @@ xref: SCTID:4854004 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0003664 -consider: ICD10CM:D59.0 {source="MONDO:relatedTo", source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.1 {source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.2 {source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.3 {source="MONDO:relatedTo", source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.4 {source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.5 {source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.6 {source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.8 {source="ORDO:182047/btnt", source="Orphanet:182047"} -consider: ICD10CM:D59.9 {source="ORDO:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.0 {source="MONDO:relatedTo", source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.1 {source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.2 {source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.3 {source="MONDO:relatedTo", source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.4 {source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.5 {source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.6 {source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.8 {source="Orphanet:182047/btnt", source="Orphanet:182047"} +consider: ICD10CM:D59.9 {source="Orphanet:182047/btnt", source="Orphanet:182047"} consider: UMLS:C0002879 {source="Orphanet:182047"} [Term] @@ -313893,7 +313734,7 @@ synonym: "Sebastian syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:605249] xref: DOID:0060651 {source="MONDO:equivalentTo"} xref: GARD:0000179 {source="MONDO:equivalentTo"} xref: GARD:0000180 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.4 {source="DOID:0060651", source="Orphanet:182050", source="ORDO:182050/attributed", source="ORDO:182050/ntbt"} +xref: ICD10CM:D69.4 {source="DOID:0060651", source="Orphanet:182050/attributed", source="Orphanet:182050/ntbt", source="Orphanet:182050"} xref: ICD9:287.33 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:582.89 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} @@ -313902,7 +313743,7 @@ xref: NCIT:C131646 {source="MONDO:equivalentTo"} xref: OMIM:153640 {source="DOID:0060651", source="MONDO:equivalentTo"} xref: OMIM:153650 {source="DOID:0060651", source="MONDO:superClassOf"} xref: OMIM:155100 {source="DOID:0060651", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: OMIM:600208 {source="Orphanet:182050", source="GARD:0000179", source="MONDO:equivalentTo", source="ORDO:182050/btnt"} +xref: OMIM:600208 {source="Orphanet:182050/btnt", source="Orphanet:182050", source="GARD:0000179", source="MONDO:equivalentTo"} xref: OMIM:605249 {source="DOID:0060651", source="MONDO:equivalentTo"} xref: Orphanet:1019 {source="MONDO:equivalentTo", source="OMIM:153650"} xref: Orphanet:182050 {source="DOID:0060651", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:600208"} @@ -314069,11 +313910,11 @@ synonym: "PAH" EXACT ABBREVIATION [Orphanet:182090] synonym: "PPH" RELATED ABBREVIATION [GARD:0007501] synonym: "pulmonary arterial hypertension" EXACT CLINGEN_PREFERRED [] xref: GARD:0007501 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MedDRA:10064911 {source="ORDO:182090/e", source="Orphanet:182090"} -xref: MESH:C536282 {source="ORDO:182090/e", source="Orphanet:182090"} +xref: MedDRA:10064911 {source="Orphanet:182090/e", source="Orphanet:182090"} +xref: MESH:C536282 {source="Orphanet:182090/e", source="Orphanet:182090"} xref: Orphanet:182090 {source="MONDO:equivalentTo"} xref: SCTID:11399002 {source="MONDO:equivalentTo"} -xref: UMLS:C0152171 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:182090/e", source="Orphanet:182090"} +xref: UMLS:C0152171 {source="Orphanet:182090/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:182090"} xref: UMLS:C1701938 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:182090"} xref: UMLS:C2973725 {source="MONDO:equivalentTo", source="Orphanet:182090"} xref: UMLS:CN200519 {source="MONDO:equivalentTo"} @@ -314093,13 +313934,13 @@ xref: EFO:0004244 {source="MONDO:equivalentTo"} xref: GARD:0013336 {source="MONDO:equivalentTo"} xref: ICD10CM:J80-J84 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:J84.9 {source="DOID:3082"} -xref: MedDRA:10022611 {source="Orphanet:182095", source="ORDO:182095/e"} -xref: MESH:D017563 {source="EFO:0004244", source="Orphanet:182095", source="ORDO:182095/e", source="MONDO:equivalentTo", source="DOID:3082"} +xref: MedDRA:10022611 {source="Orphanet:182095", source="Orphanet:182095/e"} +xref: MESH:D017563 {source="EFO:0004244", source="Orphanet:182095", source="MONDO:equivalentTo", source="Orphanet:182095/e", source="DOID:3082"} xref: OMIM:616414 {source="EFO:0004244", source="MONDO:relatedTo"} xref: Orphanet:182095 {source="MONDO:equivalentTo"} xref: SCTID:233703007 {source="EFO:0004244", source="MONDO:equivalentTo", source="DOID:3082"} xref: SCTID:64667001 {source="DOID:3082"} -xref: UMLS:C0206062 {source="Orphanet:182095", source="ORDO:182095/e", source="MONDO:equivalentTo", source="DOID:3082"} +xref: UMLS:C0206062 {source="Orphanet:182095", source="MONDO:equivalentTo", source="Orphanet:182095/e", source="DOID:3082"} is_a: MONDO:0005087 {source="Orphanet:182095"} ! respiratory system disorder is_a: MONDO:0005275 {source="DOID:3082", source="EFO:0004244", source="MESH:D017563", source="MONDO:Redundant", source="linkedlifedata"} ! lung disorder relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung @@ -314117,8 +313958,8 @@ xref: DOID:10316 {source="MONDO:equivalentTo"} xref: GARD:0008356 {source="MONDO:equivalentTo"} xref: ICD10CM:J64 {source="DOID:10316"} xref: ICD9:505 {source="DOID:10316", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10035653 {source="ORDO:182098/e", source="Orphanet:182098"} -xref: MESH:D011009 {source="ORDO:182098/e", source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098"} +xref: MedDRA:10035653 {source="Orphanet:182098", source="Orphanet:182098/e"} +xref: MESH:D011009 {source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098", source="Orphanet:182098/e"} xref: NCIT:C26861 {source="NCIT:C26861", source="DOID:10316", source="MONDO:equivalentTo"} xref: Orphanet:182098 {source="MONDO:equivalentTo"} xref: SCTID:155587002 {source="DOID:10316"} @@ -314127,7 +313968,7 @@ xref: SCTID:196004000 {source="DOID:10316"} xref: SCTID:196016006 {source="DOID:10316"} xref: SCTID:266401007 {source="DOID:10316"} xref: SCTID:40122008 {source="DOID:10316", source="MONDO:equivalentTo"} -xref: UMLS:C0032273 {source="NCIT:C26861", source="ORDO:182098/e", source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098"} +xref: UMLS:C0032273 {source="NCIT:C26861", source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098", source="Orphanet:182098/e"} is_a: MONDO:0017027 {source="Orphanet:182098"} ! primary interstitial lung disease specific to adulthood relationship: disease_has_feature HP:0006530 ! Abnormal pulmonary interstitial morphology @@ -314136,7 +313977,7 @@ id: MONDO:0015927 name: idiopathic eosinophilic pneumonia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182101"} -xref: ICD10CM:J82 {source="ORDO:182101/ntbt", source="Orphanet:182101"} +xref: ICD10CM:J82 {source="Orphanet:182101", source="Orphanet:182101/ntbt"} xref: Orphanet:182101 {source="MONDO:equivalentTo"} xref: SCTID:708031000 {source="MONDO:equivalentTo"} xref: UMLS:C3872845 {source="MONDO:equivalentTo"} @@ -314232,10 +314073,10 @@ is_a: MONDO:0015619 {source="Orphanet:182124"} ! non-syndromic urogenital tract id: MONDO:0015935 name: extragonadal germinoma subset: ordo_disease {source="Orphanet:182127"} -xref: MedDRA:10018207 {source="Orphanet:182127", source="ORDO:182127/e"} -xref: MESH:D018237 {source="MONDO:relatedTo", source="Orphanet:182127", source="ORDO:182127/e"} +xref: MedDRA:10018207 {source="Orphanet:182127/e", source="Orphanet:182127"} +xref: MESH:D018237 {source="Orphanet:182127/e", source="MONDO:relatedTo", source="Orphanet:182127"} xref: Orphanet:182127 {source="MONDO:equivalentTo"} -xref: UMLS:C0206660 {source="MONDO:relatedTo", source="Orphanet:182127", source="ORDO:182127/e"} +xref: UMLS:C0206660 {source="Orphanet:182127/e", source="MONDO:relatedTo", source="Orphanet:182127"} is_a: MONDO:0018201 {source="Orphanet:182127", source="indirect"} ! extragonadal germ cell tumor intersection_of: MONDO:0002598 ! germinoma intersection_of: MONDO:0018201 ! extragonadal germ cell tumor @@ -314253,8 +314094,8 @@ xref: Orphanet:182130 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0002082 -consider: MedDRA:10061121 {source="Orphanet:182130", source="ORDO:182130/e"} -consider: UMLS:C0014132 {source="Orphanet:182130", source="ORDO:182130/e"} +consider: MedDRA:10061121 {source="Orphanet:182130", source="Orphanet:182130/e"} +consider: UMLS:C0014132 {source="Orphanet:182130", source="Orphanet:182130/e"} [Term] id: MONDO:0015937 @@ -314318,7 +314159,7 @@ synonym: "epiphyseal dysplasia hearing loss dysmorphism" RELATED [GARD:0002178] synonym: "Finucane Kurtz Scott syndrome" RELATED [GARD:0002178] synonym: "Finucane-Kurtz-Scott syndrome" EXACT [Orphanet:1825] xref: GARD:0002178 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:1825/attributed", source="ORDO:1825/ntbt", source="Orphanet:1825"} +xref: ICD10CM:Q87.0 {source="Orphanet:1825/attributed", source="Orphanet:1825/ntbt", source="Orphanet:1825"} xref: Orphanet:1825 {source="GARD:0002178", source="MONDO:equivalentTo"} xref: SCTID:766870005 {source="MONDO:equivalentTo"} xref: UMLS:CN200532 {source="MONDO:equivalentTo"} @@ -314338,11 +314179,11 @@ synonym: "FMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305620] synonym: "frontometaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:305620] xref: DOID:0111785 {source="MONDO:equivalentTo"} xref: GARD:0000826 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q78.5 {source="Orphanet:1826", source="ORDO:1826/attributed", source="ORDO:1826/ntbt"} +xref: ICD10CM:Q78.5 {source="Orphanet:1826/attributed", source="Orphanet:1826/ntbt", source="Orphanet:1826"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538064 {source="MONDO:equivalentTo", source="Orphanet:1826", source="ORDO:1826/e"} -xref: OMIM:305620 {source="MONDO:superClassOf", source="Orphanet:1826", source="ORDO:1826/btnt"} -xref: OMIM:617137 {source="MONDO:superClassOf", source="Orphanet:1826", source="ORDO:1826/btnt"} +xref: MESH:C538064 {source="Orphanet:1826/e", source="MONDO:equivalentTo", source="Orphanet:1826"} +xref: OMIM:305620 {source="MONDO:superClassOf", source="Orphanet:1826/btnt", source="Orphanet:1826"} +xref: OMIM:617137 {source="MONDO:superClassOf", source="Orphanet:1826/btnt", source="Orphanet:1826"} xref: OMIMPS:305620 {source="MONDO:equivalentTo"} xref: Orphanet:1826 {source="OMIM:305620", source="MONDO:equivalentTo"} xref: SCTID:62803002 {source="MONDO:equivalentTo"} @@ -314398,15 +314239,15 @@ xref: DOID:3049 {source="MONDO:equivalentTo", source="EFO:0007208"} xref: EFO:0007208 {source="MONDO:equivalentTo"} xref: GARD:0005776 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: GARD:0006111 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M30.1 {source="DOID:3049", source="ORDO:183/e", source="Orphanet:183"} -xref: MedDRA:10048594 {source="ORDO:183/e", source="Orphanet:183"} -xref: MESH:C531653 {source="ORDO:183/e", source="Orphanet:183"} -xref: MESH:D015267 {source="DOID:3049", source="ORDO:183/e", source="MONDO:equivalentTo", source="EFO:0007208", source="Orphanet:183"} +xref: ICD10CM:M30.1 {source="DOID:3049", source="Orphanet:183", source="Orphanet:183/e"} +xref: MedDRA:10048594 {source="Orphanet:183", source="Orphanet:183/e"} +xref: MESH:C531653 {source="Orphanet:183", source="Orphanet:183/e"} +xref: MESH:D015267 {source="DOID:3049", source="MONDO:equivalentTo", source="EFO:0007208", source="Orphanet:183", source="Orphanet:183/e"} xref: NCIT:C34481 {source="DOID:3049", source="MONDO:equivalentTo"} xref: Orphanet:183 {source="MONDO:equivalentTo"} xref: SCTID:195362002 {source="DOID:3049"} xref: SCTID:82275008 {source="DOID:3049", source="MONDO:equivalentTo"} -xref: UMLS:C0008728 {source="NCIT:C34481", source="DOID:3049", source="ORDO:183/e", source="MONDO:equivalentTo", source="Orphanet:183"} +xref: UMLS:C0008728 {source="NCIT:C34481", source="DOID:3049", source="MONDO:equivalentTo", source="Orphanet:183", source="Orphanet:183/e"} is_a: MONDO:0002254 {source="NCIT:C34481"} ! syndromic disease is_a: MONDO:0012105 {source="https://github.com/monarch-initiative/mondo/issues/1214"} ! granulomatosis with polyangiitis is_a: MONDO:0015492 {source="MESH:D015267", source="Orphanet:183"} ! Anti-neutrophil cytoplasmic antibody-associated vasculitis @@ -314426,11 +314267,11 @@ synonym: "blastogenesis defect" EXACT [Orphanet:1834] synonym: "Russell Weaver Bull syndrome" RELATED [GARD:0000213] synonym: "Russell-Weaver-Bull syndrome" EXACT [Orphanet:1834] xref: GARD:0000213 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:1834/attributed", source="ORDO:1834/ntbt", source="Orphanet:1834"} -xref: MESH:C537790 {source="MONDO:equivalentTo", source="ORDO:1834/e", source="Orphanet:1834"} +xref: ICD10CM:Q87.8 {source="Orphanet:1834/attributed", source="Orphanet:1834/ntbt", source="Orphanet:1834"} +xref: MESH:C537790 {source="Orphanet:1834/e", source="MONDO:equivalentTo", source="Orphanet:1834"} xref: Orphanet:1834 {source="MONDO:equivalentTo"} xref: SCTID:765755006 {source="MONDO:equivalentTo"} -xref: UMLS:C2931613 {source="MONDO:equivalentTo", source="ORDO:1834/e", source="Orphanet:1834"} +xref: UMLS:C2931613 {source="Orphanet:1834/e", source="MONDO:equivalentTo", source="Orphanet:1834"} is_a: MONDO:0015246 {source="Orphanet:1834"} ! syndromic anorectal malformation is_a: MONDO:0019721 {source="Orphanet:1834"} ! syndromic renal or urinary tract malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum xsd:anyURI {source="GARD:0000213"} @@ -314478,10 +314319,10 @@ synonym: "ichthyosis congenita" RELATED [] synonym: "inherited genetic ichthyosis" EXACT [MONDO:cjm] xref: ICD10CM:Q80 {source="MONDO:equivalentTo"} xref: ICD9:757.1 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10021202 {source="ORDO:183435/e", source="Orphanet:183435"} +xref: MedDRA:10021202 {source="Orphanet:183435/e", source="Orphanet:183435"} xref: Orphanet:183435 {source="MONDO:equivalentTo"} xref: SCTID:13059002 {source="MONDO:equivalentTo"} -xref: UMLS:C0856562 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:183435/e", source="Orphanet:183435"} +xref: UMLS:C0856562 {source="Orphanet:183435/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:183435"} is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:183435/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease is_a: MONDO:0019269 {source="MONDO:Redundant", source="Orphanet:183435"} ! ichthyosis intersection_of: MONDO:0019269 ! ichthyosis @@ -314825,18 +314666,18 @@ synonym: "severe combined immunodeficiency disease" EXACT [NCIT:C3472] xref: DOID:627 {source="MONDO:equivalentTo"} xref: GARD:0007628 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0004430 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D81.0 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"} -xref: ICD10CM:D81.1 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"} -xref: ICD10CM:D81.2 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"} -xref: ICD10CM:D81.3 {source="ORDO:183660/specific", source="ORDO:183660/btnt", source="Orphanet:183660"} -xref: ICD10CM:D81.9 {source="ORDO:183660/btnt", source="Orphanet:183660", source="ORDO:183660/inclusion"} -xref: MedDRA:10069566 {source="ORDO:183660/e", source="Orphanet:183660"} -xref: MESH:D016511 {source="ORDO:183660/e", source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660"} +xref: ICD10CM:D81.0 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"} +xref: ICD10CM:D81.1 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"} +xref: ICD10CM:D81.2 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"} +xref: ICD10CM:D81.3 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"} +xref: ICD10CM:D81.9 {source="Orphanet:183660/inclusion", source="Orphanet:183660", source="Orphanet:183660/btnt"} +xref: MedDRA:10069566 {source="Orphanet:183660", source="Orphanet:183660/e"} +xref: MESH:D016511 {source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660", source="Orphanet:183660/e"} xref: NCIT:C3472 {source="MONDO:equivalentTo", source="DOID:627"} xref: Orphanet:183660 {source="MONDO:equivalentTo"} xref: SCTID:190994004 {source="DOID:627"} xref: SCTID:31323000 {source="MONDO:equivalentTo", source="DOID:627"} -xref: UMLS:C0085110 {source="ORDO:183660/e", source="NCIT:C3472", source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660"} +xref: UMLS:C0085110 {source="NCIT:C3472", source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660", source="Orphanet:183660/e"} is_a: MONDO:0015131 {source="DOID:627", source="NCIT:C3472", source="Orphanet:183660"} ! combined immunodeficiency disjoint_from: MONDO:0018814 {source="MONDO:cjm"} ! non-SCID combined immunodeficiency property_value: IAO:0000589 "severe combined immunodeficiency (disease)" xsd:string @@ -314847,9 +314688,9 @@ name: hyper-IgM syndrome with susceptibility to opportunistic infections subset: ordo_disease {source="Orphanet:183663"} subset: predisposition synonym: "HIGM with susceptibility to opportunistic infections" EXACT [Orphanet:183663] -xref: ICD10CM:D80.5 {source="ORDO:183663/attributed", source="ORDO:183663/ntbt", source="Orphanet:183663"} -xref: OMIM:308230 {source="ORDO:183663/btnt", source="MONDO:superClassOf", source="Orphanet:183663"} -xref: OMIM:606843 {source="ORDO:183663/btnt", source="MONDO:superClassOf", source="Orphanet:183663"} +xref: ICD10CM:D80.5 {source="Orphanet:183663", source="Orphanet:183663/attributed", source="Orphanet:183663/ntbt"} +xref: OMIM:308230 {source="MONDO:superClassOf", source="Orphanet:183663", source="Orphanet:183663/btnt"} +xref: OMIM:606843 {source="MONDO:superClassOf", source="Orphanet:183663", source="Orphanet:183663/btnt"} xref: Orphanet:183663 {source="MONDO:equivalentTo"} xref: UMLS:CN200572 {source="MONDO:equivalentTo"} is_a: MONDO:0003947 {source="MONDO:Redundant", source="MONDO:cjm"} ! hyper-IgM syndrome @@ -314864,10 +314705,10 @@ name: hyper-IgM syndrome without susceptibility to opportunistic infections subset: ordo_disease {source="Orphanet:183666"} subset: predisposition synonym: "HIGM without susceptibility to opportunistic infections" EXACT [Orphanet:183666] -xref: ICD10CM:D80.5 {source="ORDO:183666/attributed", source="ORDO:183666/ntbt", source="Orphanet:183666"} -xref: OMIM:605258 {source="ORDO:183666/btnt", source="MONDO:superClassOf", source="Orphanet:183666"} -xref: OMIM:608106 {source="ORDO:183666/btnt", source="MONDO:superClassOf", source="Orphanet:183666"} -xref: OMIM:608184 {source="ORDO:183666/btnt", source="MONDO:superClassOf", source="Orphanet:183666"} +xref: ICD10CM:D80.5 {source="Orphanet:183666/attributed", source="Orphanet:183666/ntbt", source="Orphanet:183666"} +xref: OMIM:605258 {source="MONDO:superClassOf", source="Orphanet:183666/btnt", source="Orphanet:183666"} +xref: OMIM:608106 {source="MONDO:superClassOf", source="Orphanet:183666/btnt", source="Orphanet:183666"} +xref: OMIM:608184 {source="MONDO:superClassOf", source="Orphanet:183666/btnt", source="Orphanet:183666"} xref: Orphanet:183666 {source="MONDO:equivalentTo"} xref: UMLS:CN200573 {source="MONDO:equivalentTo"} is_a: MONDO:0003947 {source="MONDO:cjm"} ! hyper-IgM syndrome @@ -314890,8 +314731,8 @@ xref: DOID:2583 {source="MONDO:equivalentTo"} xref: GARD:0007455 {source="MONDO:equivalentTo"} xref: ICD10CM:D80.1 {source="DOID:2583"} xref: ICD9:279.00 {source="DOID:2583"} -xref: MedDRA:10001471 {source="Orphanet:183669", source="ORDO:183669/e"} -xref: MESH:D000361 {source="DOID:2583", source="MONDO:equivalentTo", source="Orphanet:183669", source="ORDO:183669/e"} +xref: MedDRA:10001471 {source="Orphanet:183669/e", source="Orphanet:183669"} +xref: MESH:D000361 {source="DOID:2583", source="Orphanet:183669/e", source="MONDO:equivalentTo", source="Orphanet:183669"} xref: NCIT:C26931 {source="DOID:2583", source="MONDO:superClassOf"} xref: OMIM:601495 {source="DOID:2583", source="MONDO:superClassOf"} xref: OMIM:612692 {source="DOID:2583", source="MONDO:superClassOf"} @@ -314908,7 +314749,7 @@ xref: SCTID:190977001 {source="DOID:2583"} xref: SCTID:190978006 {source="DOID:2583"} xref: SCTID:267512002 {source="DOID:2583"} xref: SCTID:81282009 {source="DOID:2583"} -xref: UMLS:C0001768 {source="DOID:2583", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:183669", source="ORDO:183669/e"} +xref: UMLS:C0001768 {source="DOID:2583", source="Orphanet:183669/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:183669"} xref: UMLS:C0086438 {source="DOID:2583", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0745242 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0007455"} is_a: MONDO:0002211 {source="DOID:2583"} ! B cell deficiency @@ -314935,7 +314776,7 @@ comment: Editor note: todo logical definition subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183710"} synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [Orphanet:183710] -xref: ICD10CM:D84.8 {source="ORDO:183710/attributed", source="ORDO:183710/ntbt", source="Orphanet:183710"} +xref: ICD10CM:D84.8 {source="Orphanet:183710/attributed", source="Orphanet:183710/ntbt", source="Orphanet:183710"} xref: Orphanet:183710 {source="MONDO:equivalentTo"} intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005550 ! infectious disease @@ -315015,7 +314856,7 @@ subset: gard_rare {source="GARD:0000920"} subset: ordo_malformation_syndrome {source="Orphanet:1844"} synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920] xref: GARD:0000920 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.4 {source="ORDO:1844/ntbt", source="Orphanet:1844", source="ORDO:1844/inclusion"} +xref: ICD10CM:Q78.4 {source="Orphanet:1844/inclusion", source="Orphanet:1844", source="Orphanet:1844/ntbt"} xref: Orphanet:1844 {source="MONDO:equivalentTo"} xref: SCTID:720566004 {source="MONDO:equivalentTo"} xref: UMLS:C4303993 {source="MONDO:equivalentTo"} @@ -315031,8 +314872,8 @@ subset: ordo_clinical_subtype {source="Orphanet:1848"} synonym: "bilateral renal aplasia" RELATED [DOID:0080200] synonym: "renal agenesis, bilateral" RELATED [Orphanet:1848] xref: DOID:0080200 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q60.1 {source="MONDO:equivalentTo", source="ORDO:1848/specific", source="Orphanet:1848", source="ORDO:1848/e"} -xref: MESH:C536482 {source="Orphanet:1848", source="ORDO:1848/e"} +xref: ICD10CM:Q60.1 {source="Orphanet:1848/e", source="Orphanet:1848/specific", source="MONDO:equivalentTo", source="Orphanet:1848"} +xref: MESH:C536482 {source="Orphanet:1848/e", source="Orphanet:1848"} xref: NCIT:C101219 {source="MONDO:equivalentTo"} xref: Orphanet:1848 {source="DOID:0080200", source="MONDO:equivalentTo"} xref: UMLS:C1609433 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1848"} @@ -315047,14 +314888,14 @@ synonym: "congenital pulmonary venolobar syndrome" EXACT [Orphanet:185] synonym: "Epibronchial right pulmonary vein syndrome" EXACT [Orphanet:185] synonym: "Halasz syndrome" EXACT [Orphanet:185] synonym: "hypogenetic lung syndrome" EXACT [Orphanet:185] -xref: ICD10CM:Q26.8 {source="ORDO:185/ntbt", source="Orphanet:185"} +xref: ICD10CM:Q26.8 {source="Orphanet:185/ntbt", source="Orphanet:185"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051951 {source="ORDO:185/e", source="Orphanet:185"} -xref: MESH:D012587 {source="MONDO:equivalentTo", source="ORDO:185/e", source="Orphanet:185"} +xref: MedDRA:10051951 {source="Orphanet:185/e", source="Orphanet:185"} +xref: MESH:D012587 {source="Orphanet:185/e", source="MONDO:equivalentTo", source="Orphanet:185"} xref: NCIT:C85056 {source="MONDO:equivalentTo"} xref: Orphanet:185 {source="MONDO:equivalentTo"} xref: SCTID:39905002 {source="MONDO:equivalentTo"} -xref: UMLS:C0036400 {source="MONDO:equivalentTo", source="ORDO:185/e", source="NCIT:C85056", source="Orphanet:185"} +xref: UMLS:C0036400 {source="Orphanet:185/e", source="MONDO:equivalentTo", source="NCIT:C85056", source="Orphanet:185"} is_a: MONDO:0002254 {source="NCIT:C85056"} ! syndromic disease is_a: MONDO:0017705 {source="MONDO:cjm"} ! congenital pulmonary venous return anomaly is_a: MONDO:0020292 {source="Orphanet:185"} ! congenital anomaly of the great arteries @@ -315066,13 +314907,13 @@ def: "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney subset: ordo_morphological_anomaly {source="Orphanet:1851"} synonym: "MCDK" EXACT ABBREVIATION [Orphanet:1851] synonym: "multicystic renal dysplasia" EXACT [Orphanet:1851] -xref: ICD10CM:Q61.4 {source="Orphanet:1851", source="ORDO:1851/ntbt", source="ORDO:1851/inclusion"} +xref: ICD10CM:Q61.4 {source="Orphanet:1851/ntbt", source="Orphanet:1851/inclusion", source="Orphanet:1851"} xref: ICD9:753.19 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D021782 {source="Orphanet:1851", source="ORDO:1851/e", source="MONDO:equivalentTo"} +xref: MESH:D021782 {source="Orphanet:1851", source="MONDO:equivalentTo", source="Orphanet:1851/e"} xref: NCIT:C123031 {source="MONDO:equivalentTo"} xref: Orphanet:1851 {source="MONDO:equivalentTo"} xref: SCTID:204962002 {source="MONDO:equivalentTo"} -xref: UMLS:C0345335 {source="Orphanet:1851", source="ORDO:1851/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0345335 {source="Orphanet:1851", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1851/e"} xref: UMLS:C3714581 {source="Orphanet:1851", source="NCIT:C123031", source="MONDO:equivalentTo"} is_a: MONDO:0002473 {source="MESH:D021782", source="NCIT:C123031"} ! cystic kidney disease is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:1851", source="Orphanet:1851/inferred"} ! kidney disorder @@ -315094,10 +314935,10 @@ name: focal, segmental or multifocal dystonia def: "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." [Orphanet:1866] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1866"} -xref: ICD10CM:G24.3 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="Orphanet:1866"} -xref: ICD10CM:G24.4 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="Orphanet:1866"} -xref: ICD10CM:G24.5 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="MONDO:relatedTo", source="Orphanet:1866"} -xref: ICD10CM:G24.8 {source="ORDO:1866/attributed", source="ORDO:1866/ntbt", source="Orphanet:1866"} +xref: ICD10CM:G24.3 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} +xref: ICD10CM:G24.4 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} +xref: ICD10CM:G24.5 {source="MONDO:relatedTo", source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} +xref: ICD10CM:G24.8 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"} xref: Orphanet:1866 {source="MONDO:equivalentTo"} is_a: MONDO:0015494 {source="Orphanet:1866"} ! isolated dystonia @@ -315110,9 +314951,9 @@ subset: ordo_group_of_disorders {source="Orphanet:187"} synonym: "ass deficiency" NARROW [DOID:9273] synonym: "deficiency of citrulline-aspartate ligase" EXACT [DOID:9273] xref: DOID:9273 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.2 {source="ORDO:187/inclusion", source="ORDO:187/ntbt", source="Orphanet:187"} +xref: ICD10CM:E72.2 {source="Orphanet:187/inclusion", source="Orphanet:187/ntbt", source="Orphanet:187"} xref: ICD10CM:E72.23 {source="MONDO:equivalentTo", source="DOID:9273"} -xref: MESH:D020159 {source="MONDO:equivalentTo", source="ORDO:187/e", source="DOID:9273", source="Orphanet:187"} +xref: MESH:D020159 {source="Orphanet:187/e", source="MONDO:equivalentTo", source="DOID:9273", source="Orphanet:187"} xref: NCIT:C84639 {source="MONDO:equivalentTo", source="DOID:9273"} xref: OMIM:215700 {source="MONDO:superClassOf", source="DOID:9273"} xref: OMIM:603471 {source="MONDO:superClassOf", source="DOID:9273"} @@ -315122,7 +314963,7 @@ xref: SCTID:124711003 {source="MONDO:equivalentTo", source="DOID:9273"} xref: SCTID:15489004 {source="DOID:9273"} xref: SCTID:398630005 {source="DOID:9273"} xref: SCTID:398680004 {source="MONDO:superClassOf", source="DOID:9273"} -xref: UMLS:C0175683 {source="MONDO:equivalentTo", source="NCIT:C84639", source="ORDO:187/e", source="DOID:9273", source="Orphanet:187"} +xref: UMLS:C0175683 {source="Orphanet:187/e", source="MONDO:equivalentTo", source="NCIT:C84639", source="DOID:9273", source="Orphanet:187"} is_a: MONDO:0004739 {source="DOID:9273", source="MESH:D020159", source="MONDO:Redundant", source="NCIT:C84639", source="Orphanet:187", source="indirect"} ! urea cycle disorder [Term] @@ -315141,33 +314982,33 @@ synonym: "cone-rod retinal dystrophy" EXACT [DOID:0050572] synonym: "CRD" EXACT ABBREVIATION [Orphanet:1872] xref: DOID:0050572 {source="MONDO:equivalentTo"} xref: GARD:0010790 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H35.5 {source="DOID:0050572", source="MONDO:relatedTo", source="Orphanet:1872", source="ORDO:1872/attributed", source="ORDO:1872/ntbt"} -xref: OMIM:120970 {source="ORDO:1872/e", source="MONDO:superClassOf"} -xref: OMIM:300476 {source="MONDO:relatedTo", source="ORDO:1872/btnt"} -xref: OMIM:300834 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:303700 {source="MONDO:superClassOf", source="ORDO:1872/ntbt"} -xref: OMIM:304020 {source="MONDO:relatedTo", source="ORDO:1872/btnt"} -xref: OMIM:600624 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:600977 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:601777 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:602093 {source="MONDO:superClassOf", source="ORDO:1872/ntbt"} -xref: OMIM:603649 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:604116 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:604393 {source="MONDO:superClassOf", source="ORDO:1872/ntbt"} -xref: OMIM:605549 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:608194 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:610283 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:610381 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:610478 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:612657 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:612775 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:613660 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:614500 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:615163 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:615374 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:615860 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:615973 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} -xref: OMIM:616502 {source="MONDO:superClassOf", source="ORDO:1872/btnt"} +xref: ICD10CM:H35.5 {source="Orphanet:1872/attributed", source="Orphanet:1872/ntbt", source="DOID:0050572", source="MONDO:relatedTo", source="Orphanet:1872"} +xref: OMIM:120970 {source="MONDO:superClassOf", source="Orphanet:1872/e"} +xref: OMIM:300476 {source="Orphanet:1872/btnt", source="MONDO:relatedTo"} +xref: OMIM:300834 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:303700 {source="Orphanet:1872/ntbt", source="MONDO:superClassOf"} +xref: OMIM:304020 {source="Orphanet:1872/btnt", source="MONDO:relatedTo"} +xref: OMIM:600624 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:600977 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:601777 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:602093 {source="Orphanet:1872/ntbt", source="MONDO:superClassOf"} +xref: OMIM:603649 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:604116 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:604393 {source="Orphanet:1872/ntbt", source="MONDO:superClassOf"} +xref: OMIM:605549 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:608194 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:610283 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:610381 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:610478 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:612657 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:612775 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:613660 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:614500 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:615163 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:615374 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:615860 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:615973 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} +xref: OMIM:616502 {source="Orphanet:1872/btnt", source="MONDO:superClassOf"} xref: OMIMPS:120970 {source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="DOID:0050572", source="MONDO:equivalentTo"} is_a: MONDO:0004580 {source="DOID:0050572", source="MONDO:Redundant", source="indirect"} ! retinal degeneration @@ -315181,7 +315022,7 @@ subset: ordo_disease {source="Orphanet:1877"} synonym: "Atrophie blanche" RELATED [GARD:0003854] synonym: "muscular dystrophy white matter spongiosis" RELATED [GARD:0003854] xref: GARD:0003854 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:1877/attributed", source="ORDO:1877/ntbt", source="Orphanet:1877"} +xref: ICD10CM:G71.2 {source="Orphanet:1877", source="Orphanet:1877/attributed", source="Orphanet:1877/ntbt"} xref: Orphanet:1877 {source="GARD:0003854", source="MONDO:equivalentTo"} xref: UMLS:C1306862 {source="GARD:0003854", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN200619 {source="MONDO:equivalentTo"} @@ -315199,9 +315040,9 @@ synonym: "mixed sclerosing bone dystrophy" EXACT [Orphanet:1879] synonym: "MSBD syndrome" EXACT [Orphanet:1879] xref: GARD:0003690 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0003800 {source="MONDO:equivalentTo"} -xref: ICD10CM:M85.8 {source="ORDO:1879/attributed", source="ORDO:1879/ntbt", source="Orphanet:1879"} +xref: ICD10CM:M85.8 {source="Orphanet:1879", source="Orphanet:1879/attributed", source="Orphanet:1879/ntbt"} xref: Orphanet:1879 {source="MONDO:equivalentTo"} -xref: UMLS:C2931505 {source="MONDO:equivalentTo", source="Orphanet:1879", source="ORDO:1879/e"} +xref: UMLS:C2931505 {source="Orphanet:1879/e", source="MONDO:equivalentTo", source="Orphanet:1879"} xref: UMLS:C3149695 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1879"} xref: UMLS:CN200621 {source="MONDO:equivalentTo"} is_a: MONDO:0008157 ! Buschke-Ollendorff syndrome @@ -315222,7 +315063,7 @@ synonym: "ectopia lentis chorioretinal dystrophy myopia" RELATED [GARD:0003999] synonym: "noble Bass Sherman syndrome" RELATED [GARD:0003999] synonym: "noble-Bass-Sherman syndrome" EXACT [Orphanet:1884] xref: GARD:0003999 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q15.8 {source="Orphanet:1884", source="ORDO:1884/attributed", source="ORDO:1884/ntbt"} +xref: ICD10CM:Q15.8 {source="Orphanet:1884/attributed", source="Orphanet:1884/ntbt", source="Orphanet:1884"} xref: MESH:C536124 {source="MONDO:equivalentTo"} xref: Orphanet:1884 {source="MONDO:equivalentTo"} xref: SCTID:722437006 {source="MONDO:equivalentTo"} @@ -315244,21 +315085,21 @@ synonym: "isolated lens position anomaly" EXACT [] synonym: "nonsyndromic lens position anomaly" EXACT [MONDO:patterns/isolated] xref: DOID:0111148 {source="MONDO:equivalentTo"} xref: GARD:0012251 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q12.1 {source="ORDO:1885/specific", source="ORDO:1885/e", source="Orphanet:1885", source="DOID:0111148"} -xref: MedDRA:10014145 {source="ORDO:1885/e", source="Orphanet:1885"} -xref: MESH:C536184 {source="ORDO:1885/e", source="MONDO:equivalentTo", source="Orphanet:1885"} -xref: MESH:D004479 {source="ORDO:1885/e", source="Orphanet:1885"} +xref: ICD10CM:Q12.1 {source="Orphanet:1885", source="Orphanet:1885/specific", source="Orphanet:1885/e", source="DOID:0111148"} +xref: MedDRA:10014145 {source="Orphanet:1885", source="Orphanet:1885/e"} +xref: MESH:C536184 {source="MONDO:equivalentTo", source="Orphanet:1885", source="Orphanet:1885/e"} +xref: MESH:D004479 {source="Orphanet:1885", source="Orphanet:1885/e"} xref: NCIT:C125484 {source="DOID:0111148"} xref: NCIT:C34566 {source="MONDO:equivalentTo", source="DOID:0111148"} -xref: OMIM:129600 {source="MONDO:superClassOf", source="ORDO:1885/btnt", source="Orphanet:1885"} -xref: OMIM:225100 {source="MONDO:superClassOf", source="ORDO:1885/btnt", source="Orphanet:1885"} -xref: OMIM:225200 {source="MONDO:superClassOf", source="ORDO:1885/btnt", source="Orphanet:1885"} +xref: OMIM:129600 {source="MONDO:superClassOf", source="Orphanet:1885", source="Orphanet:1885/btnt"} +xref: OMIM:225100 {source="MONDO:superClassOf", source="Orphanet:1885", source="Orphanet:1885/btnt"} +xref: OMIM:225200 {source="MONDO:superClassOf", source="Orphanet:1885", source="Orphanet:1885/btnt"} xref: Orphanet:1885 {source="MONDO:equivalentTo", source="DOID:0111148"} xref: PMID:20141359 {source="DOID:0111148"} xref: SCTID:204136005 {source="DOID:0111148"} xref: SCTID:231976001 {source="DOID:0111148"} xref: SCTID:74969002 {source="MONDO:equivalentTo", source="DOID:0111148"} -xref: UMLS:C0013581 {source="ORDO:1885/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1885", source="DOID:0111148"} +xref: UMLS:C0013581 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1885", source="Orphanet:1885/e", source="DOID:0111148"} xref: UMLS:C1851286 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1885"} xref: UMLS:C2746069 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1885", source="DOID:0111148"} is_a: MONDO:0001176 {source="DOID:0111148", source="MESH:C536184/inferred", source="NCIT:C34566/inferred", source="linkedlifedata/inferred"} ! lens disorder @@ -315280,14 +315121,14 @@ synonym: "PPNAD" EXACT ABBREVIATION [Orphanet:189439] synonym: "primary pigmented nodular adrenal dysplasia" EXACT [NCIT:C131196] xref: DOID:0060280 {source="MONDO:equivalentTo"} xref: GARD:0010906 {source="MONDO:equivalentTo"} -xref: ICD10CM:E24.8 {source="ORDO:189439/attributed", source="ORDO:189439/ntbt", source="Orphanet:189439"} +xref: ICD10CM:E24.8 {source="Orphanet:189439/attributed", source="Orphanet:189439/ntbt", source="Orphanet:189439"} xref: MESH:C566469 {source="MONDO:superClassOf", source="DOID:0060280"} xref: MESH:C566472 {source="MONDO:superClassOf", source="DOID:0060280"} xref: NCIT:C131196 {source="MONDO:equivalentTo"} -xref: OMIM:610475 {source="ORDO:189439/btnt", source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439"} -xref: OMIM:610489 {source="ORDO:189439/btnt", source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439"} -xref: OMIM:614190 {source="ORDO:189439/btnt", source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439"} -xref: OMIM:615830 {source="ORDO:189439/btnt", source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439"} +xref: OMIM:610475 {source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439/btnt", source="Orphanet:189439"} +xref: OMIM:610489 {source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439/btnt", source="Orphanet:189439"} +xref: OMIM:614190 {source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439/btnt", source="Orphanet:189439"} +xref: OMIM:615830 {source="MONDO:superClassOf", source="DOID:0060280", source="Orphanet:189439/btnt", source="Orphanet:189439"} xref: OMIMPS:610489 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="MONDO:equivalentTo", source="DOID:0060280"} xref: SCTID:719274008 {source="MONDO:equivalentTo"} @@ -315305,8 +315146,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10906/primary id: MONDO:0016000 name: familial isolated hypoparathyroidism due to impaired PTH secretion subset: ordo_clinical_subtype {source="Orphanet:189466"} -xref: ICD10CM:E20.8 {source="Orphanet:189466", source="ORDO:189466/attributed", source="ORDO:189466/ntbt"} -xref: OMIM:146200 {source="MONDO:subClassOf", source="Orphanet:189466", source="ORDO:189466/ntbt"} +xref: ICD10CM:E20.8 {source="Orphanet:189466/attributed", source="Orphanet:189466/ntbt", source="Orphanet:189466"} +xref: OMIM:146200 {source="MONDO:subClassOf", source="Orphanet:189466/ntbt", source="Orphanet:189466"} xref: Orphanet:189466 {source="MONDO:equivalentTo"} xref: UMLS:CN200646 {source="MONDO:equivalentTo"} is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated 1 @@ -315325,7 +315166,7 @@ synonym: "2-hydroxyglutaric acidemia" EXACT [Orphanet:19] synonym: "2-hydroxyglutaric aciduria" EXACT [MESH:C535306] xref: DOID:0050573 {source="MONDO:equivalentTo"} xref: GARD:0010761 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.8 {source="ORDO:19/attributed", source="ORDO:19/ntbt", source="Orphanet:19"} +xref: ICD10CM:E72.8 {source="Orphanet:19/attributed", source="Orphanet:19/ntbt", source="Orphanet:19"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535306 {source="MONDO:equivalentTo"} xref: NCIT:C128187 {source="MONDO:equivalentTo"} @@ -315375,10 +315216,10 @@ synonym: "kyphoscoliotic Ehlers-Danlos syndrome" RELATED [GARD:0002083] synonym: "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" EXACT [Orphanet:1900] synonym: "nevo syndrome" EXACT DEPRECATED [MESH:C536198, OMIM:225400, PMID:19760654] xref: GARD:0002083 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:1900/attributed", source="ORDO:1900/ntbt", source="Orphanet:1900"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:1900/attributed", source="Orphanet:1900/ntbt", source="Orphanet:1900"} xref: MESH:C536198 {source="MONDO:equivalentTo"} xref: NCIT:C125700 {source="MONDO:equivalentTo"} -xref: OMIM:225400 {source="MONDO:equivalentTo", source="ORDO:1900/e", source="Orphanet:1900"} +xref: OMIM:225400 {source="Orphanet:1900/e", source="MONDO:equivalentTo", source="Orphanet:1900"} xref: Orphanet:1900 {source="MONDO:equivalentTo", source="OMIM:225400"} xref: SCTID:718211004 {source="MONDO:equivalentTo"} xref: UMLS:C0268342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:225400", source="NCIT:C125700", source="Orphanet:1900"} @@ -315403,16 +315244,16 @@ subset: ordo_disease {source="Orphanet:1902"} synonym: "human ehrlichiosis" NARROW [DOID:10242] xref: DOID:10242 {source="MONDO:equivalentTo"} xref: GARD:0002092 {source="MONDO:equivalentTo"} -xref: ICD10CM:A48.8 {source="ORDO:1902/ntbt", source="Orphanet:1902"} +xref: ICD10CM:A48.8 {source="Orphanet:1902/ntbt", source="Orphanet:1902"} xref: ICD10CM:A77.4 {source="DOID:10242"} xref: ICD10CM:A77.40 {source="DOID:10242"} xref: ICD9:082.4 {source="DOID:10242"} xref: ICD9:082.40 {source="DOID:10242"} -xref: MESH:D016873 {source="MONDO:equivalentTo", source="ORDO:1902/e", source="DOID:10242", source="Orphanet:1902"} +xref: MESH:D016873 {source="Orphanet:1902/e", source="MONDO:equivalentTo", source="DOID:10242", source="Orphanet:1902"} xref: Orphanet:1902 {source="MONDO:equivalentTo"} xref: SCTID:240626005 {source="MONDO:equivalentTo"} xref: SCTID:77361002 {source="DOID:10242"} -xref: UMLS:C0085399 {source="MONDO:equivalentTo", source="ORDO:1902/e", source="DOID:10242", source="Orphanet:1902"} +xref: UMLS:C0085399 {source="Orphanet:1902/e", source="MONDO:equivalentTo", source="DOID:10242", source="Orphanet:1902"} is_a: MONDO:0000314 {source="DOID:10242"} ! primary bacterial infectious disease is_a: MONDO:0006956 {source="Orphanet:1902"} ! Rickettsiosis relationship: disease_has_feature HP:0002315 {source="Wikidata"} ! Headache @@ -315432,13 +315273,13 @@ synonym: "aminopterin syndrome" RELATED [GARD:0002294] synonym: "fetal aminopterin syndrome" EXACT [Orphanet:1908] synonym: "fetal methotrexate syndrome" RELATED [GARD:0002294] xref: GARD:0002294 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="Orphanet:1908", source="ORDO:1908/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:1908/ntbt", source="Orphanet:1908"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071183 {source="ORDO:1908/e", source="Orphanet:1908"} +xref: MedDRA:10071183 {source="Orphanet:1908", source="Orphanet:1908/e"} xref: NCIT:C98928 {source="MONDO:equivalentTo"} xref: Orphanet:1908 {source="MONDO:equivalentTo"} xref: SCTID:65986000 {source="MONDO:equivalentTo"} -xref: UMLS:C0432367 {source="ORDO:1908/e", source="Orphanet:1908", source="MONDO:equivalentTo", source="GARD:0002294"} +xref: UMLS:C0432367 {source="Orphanet:1908", source="MONDO:equivalentTo", source="Orphanet:1908/e", source="GARD:0002294"} is_a: MONDO:0015323 {source="Orphanet:1908"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0016677 {source="Orphanet:1908"} ! toxic or drug-related embryofetopathy @@ -315450,7 +315291,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1909"} synonym: "antenatal indomethacin exposure" RELATED [GARD:0002994] synonym: "fetal indomethacin syndrome" EXACT [Orphanet:1909] xref: GARD:0002994 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q86.8 {source="Orphanet:1909", source="ORDO:1909/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:1909", source="Orphanet:1909/ntbt"} xref: Orphanet:1909 {source="MONDO:equivalentTo"} xref: SCTID:715430001 {source="MONDO:equivalentTo"} xref: UMLS:C4275138 {source="MONDO:equivalentTo"} @@ -315470,26 +315311,26 @@ synonym: "progeria-like syndrome" RELATED [GARD:0006122] synonym: "progeroid nanism" RELATED [GARD:0006122] xref: DOID:2962 {source="MONDO:equivalentTo"} xref: GARD:0006122 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:191", source="DOID:2962", source="ORDO:191/inclusion", source="ORDO:191/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:191/ntbt", source="Orphanet:191/inclusion", source="Orphanet:191", source="DOID:2962"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10009835 {source="ORDO:191/e", source="Orphanet:191"} -xref: MESH:D003057 {source="ORDO:191/e", source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962"} +xref: MedDRA:10009835 {source="Orphanet:191", source="Orphanet:191/e"} +xref: MESH:D003057 {source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962", source="Orphanet:191/e"} xref: NCIT:C9460 {source="MONDO:equivalentTo", source="DOID:2962"} -xref: OMIM:133540 {source="Orphanet:191", source="DOID:2962", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:214150 {source="Orphanet:191", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:216400 {source="Orphanet:191", source="DOID:2962", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:216411 {source="Orphanet:191", source="DOID:2962", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:278780 {source="Orphanet:191", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:610756 {source="Orphanet:191", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:610758 {source="Orphanet:191", source="MONDO:superClassOf", source="ORDO:191/btnt"} -xref: OMIM:616570 {source="Orphanet:191", source="MONDO:superClassOf", source="ORDO:191/btnt"} +xref: OMIM:133540 {source="Orphanet:191/btnt", source="Orphanet:191", source="DOID:2962", source="MONDO:superClassOf"} +xref: OMIM:214150 {source="Orphanet:191/btnt", source="Orphanet:191", source="MONDO:superClassOf"} +xref: OMIM:216400 {source="Orphanet:191/btnt", source="Orphanet:191", source="DOID:2962", source="MONDO:superClassOf"} +xref: OMIM:216411 {source="Orphanet:191/btnt", source="Orphanet:191", source="DOID:2962", source="MONDO:superClassOf"} +xref: OMIM:278780 {source="Orphanet:191/btnt", source="Orphanet:191", source="MONDO:superClassOf"} +xref: OMIM:610756 {source="Orphanet:191/btnt", source="Orphanet:191", source="MONDO:superClassOf"} +xref: OMIM:610758 {source="Orphanet:191/btnt", source="Orphanet:191", source="MONDO:superClassOf"} +xref: OMIM:616570 {source="Orphanet:191/btnt", source="Orphanet:191", source="MONDO:superClassOf"} xref: Orphanet:191 {source="MONDO:equivalentTo", source="DOID:2962"} xref: Orphanet:90321 {source="DOID:2962", source="MONDO:superClassOf"} xref: Orphanet:90322 {source="DOID:2962", source="MONDO:superClassOf"} xref: Orphanet:90324 {source="DOID:2962", source="MONDO:superClassOf"} xref: SCTID:205832003 {source="DOID:2962"} xref: SCTID:21086008 {source="MONDO:equivalentTo", source="DOID:2962"} -xref: UMLS:C0009207 {source="ORDO:191/e", source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962", source="NCIT:C9460"} +xref: UMLS:C0009207 {source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962", source="Orphanet:191/e", source="NCIT:C9460"} is_a: MONDO:0000508 {source="Orphanet:191"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C9460", source="indirect"} ! syndromic disease is_a: MONDO:0003847 {source="DOID:2962/inferred", source="MESH:D003057/inferred", source="MONDO:Redundant", source="NCIT:C9460", source="Orphanet:191/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease @@ -315518,11 +315359,11 @@ synonym: "cocaine fetopathy" RELATED [GARD:0001413] synonym: "fetal cocaine syndrome" EXACT [GARD:0001413, Orphanet:1911] synonym: "prenatal cocaine exposure" RELATED [GARD:0001413] xref: GARD:0001413 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="ORDO:1911/ntbt", source="Orphanet:1911"} +xref: ICD10CM:Q86.8 {source="Orphanet:1911/ntbt", source="Orphanet:1911"} xref: ICD9:760.75 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:1911 {source="MONDO:equivalentTo"} xref: SCTID:254250002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432371 {source="MONDO:equivalentTo", source="GARD:0001413", source="ORDO:1911/e", source="Orphanet:1911"} +xref: UMLS:C0432371 {source="Orphanet:1911/e", source="MONDO:equivalentTo", source="GARD:0001413", source="Orphanet:1911"} is_a: MONDO:0015323 {source="Orphanet:1911"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0016677 {source="Orphanet:1911"} ! toxic or drug-related embryofetopathy relationship: realized_in_response_to_stimulus CHEBI:27958 ! cocaine @@ -315538,14 +315379,14 @@ synonym: "fetal dihydantoin syndrome" EXACT [Orphanet:1912] synonym: "phenytoin embryofetopathy" EXACT [Orphanet:1912] synonym: "phenytoin embryopathy" RELATED [GARD:0006435] xref: GARD:0006435 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.1 {source="MONDO:equivalentTo", source="Orphanet:1912", source="ORDO:1912/e"} +xref: ICD10CM:Q86.1 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10016508 {source="Orphanet:1912", source="ORDO:1912/e"} -xref: MESH:C537922 {source="MONDO:equivalentTo", source="Orphanet:1912", source="ORDO:1912/e"} +xref: MedDRA:10016508 {source="Orphanet:1912/e", source="Orphanet:1912"} +xref: MESH:C537922 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"} xref: NCIT:C98927 {source="MONDO:equivalentTo"} xref: Orphanet:1912 {source="MONDO:equivalentTo"} xref: SCTID:70065001 {source="MONDO:equivalentTo"} -xref: UMLS:C0265372 {source="NCIT:C98927", source="MONDO:equivalentTo", source="Orphanet:1912", source="ORDO:1912/e"} +xref: UMLS:C0265372 {source="Orphanet:1912/e", source="NCIT:C98927", source="MONDO:equivalentTo", source="Orphanet:1912"} is_a: MONDO:0002254 {source="NCIT:C98927"} ! syndromic disease is_a: MONDO:0015323 {source="Orphanet:1912"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0018262 {source="Orphanet:1912"} ! fetal anticonvulsant syndrome @@ -315556,12 +315397,12 @@ id: MONDO:0016009 name: fetal trimethadione syndrome def: "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." [Orphanet:1913] subset: ordo_malformation_syndrome {source="Orphanet:1913"} -xref: ICD10CM:Q86.8 {source="ORDO:1913/ntbt", source="Orphanet:1913"} +xref: ICD10CM:Q86.8 {source="Orphanet:1913/ntbt", source="Orphanet:1913"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537798 {source="MONDO:equivalentTo", source="ORDO:1913/e", source="Orphanet:1913"} +xref: MESH:C537798 {source="Orphanet:1913/e", source="MONDO:equivalentTo", source="Orphanet:1913"} xref: Orphanet:1913 {source="MONDO:equivalentTo"} xref: SCTID:66351003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265373 {source="MONDO:equivalentTo", source="ORDO:1913/e", source="Orphanet:1913"} +xref: UMLS:C0265373 {source="Orphanet:1913/e", source="MONDO:equivalentTo", source="Orphanet:1913"} is_a: MONDO:0015323 {source="Orphanet:1913"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0018262 {source="Orphanet:1913"} ! fetal anticonvulsant syndrome @@ -315589,9 +315430,9 @@ synonym: "warfarin embryofetopathy" EXACT [GARD:0008580, Orphanet:1914] synonym: "warfarin embryopathy" EXACT [GARD:0008580, Orphanet:1914] synonym: "warfarin syndrome" RELATED [GARD:0008580] xref: GARD:0008580 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.2 {source="Orphanet:1914", source="ORDO:1914/ntbt"} +xref: ICD10CM:Q86.2 {source="Orphanet:1914/ntbt", source="Orphanet:1914"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051445 {source="Orphanet:1914", source="ORDO:1914/e"} +xref: MedDRA:10051445 {source="Orphanet:1914/e", source="Orphanet:1914"} xref: MESH:C536683 {source="MONDO:equivalentTo"} xref: NCIT:C98906 {source="MONDO:equivalentTo"} xref: Orphanet:1914 {source="MONDO:equivalentTo", source="GARD:0008580"} @@ -315617,13 +315458,13 @@ synonym: "fetal alcohol spectrum disorders" BROAD [Orphanet:1915] synonym: "static encephalopathy" RELATED [DOID:0050667] xref: DOID:0050665 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0050667 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.0 {source="ORDO:1915/e", source="Orphanet:1915"} -xref: MedDRA:10016845 {source="ORDO:1915/e", source="Orphanet:1915"} -xref: MESH:D005310 {source="ORDO:1915/e", source="Orphanet:1915"} +xref: ICD10CM:Q86.0 {source="Orphanet:1915/e", source="Orphanet:1915"} +xref: MedDRA:10016845 {source="Orphanet:1915/e", source="Orphanet:1915"} +xref: MESH:D005310 {source="Orphanet:1915/e", source="Orphanet:1915"} xref: NCIT:C84713 {source="MONDO:equivalentTo"} xref: Orphanet:1915 {source="MONDO:equivalentTo"} xref: SCTID:205788004 {source="MONDO:equivalentTo"} -xref: UMLS:C0015923 {source="NCIT:C84713", source="MONDO:equivalentTo", source="ORDO:1915/e", source="Orphanet:1915"} +xref: UMLS:C0015923 {source="NCIT:C84713", source="Orphanet:1915/e", source="MONDO:equivalentTo", source="Orphanet:1915"} xref: UMLS:C0814154 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1915"} xref: UMLS:C2985290 {source="Orphanet:1915"} xref: UMLS:C3146244 {source="Orphanet:1915"} @@ -315645,12 +315486,12 @@ synonym: "diethylstilbestrol embryofetopathy" EXACT [Orphanet:1916] synonym: "Distilbene embryofetopathy" EXACT [Orphanet:1916] synonym: "fetal diethylstilbestrol syndrome" RELATED [GARD:0001859] xref: GARD:0001859 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="ORDO:1916/ntbt", source="Orphanet:1916"} -xref: MedDRA:10012780 {source="Orphanet:1916", source="ORDO:1916/e"} +xref: ICD10CM:Q86.8 {source="Orphanet:1916/ntbt", source="Orphanet:1916"} +xref: MedDRA:10012780 {source="Orphanet:1916/e", source="Orphanet:1916"} xref: NCIT:C113422 {source="MONDO:equivalentTo"} xref: Orphanet:1916 {source="MONDO:equivalentTo"} xref: SCTID:716005004 {source="MONDO:equivalentTo"} -xref: UMLS:C0853695 {source="MONDO:equivalentTo", source="NCIT:C113422", source="Orphanet:1916", source="ORDO:1916/e"} +xref: UMLS:C0853695 {source="Orphanet:1916/e", source="MONDO:equivalentTo", source="NCIT:C113422", source="Orphanet:1916"} is_a: MONDO:0015829 {source="Orphanet:1916"} ! non-syndromic uterovaginal malformation is_a: MONDO:0016677 {source="Orphanet:1916"} ! toxic or drug-related embryofetopathy is_a: MONDO:0021124 ! female infertility @@ -315667,13 +315508,13 @@ synonym: "Methyl mercury antenatal exposure" RELATED [GARD:0003575] synonym: "Methyl mercury antenatal infection" EXACT [Orphanet:1917] synonym: "Minamata disease" RELATED [Orphanet:1917] xref: GARD:0003575 {source="MONDO:equivalentTo"} -xref: ICD10CM:T56.1 {source="Orphanet:1917", source="ORDO:1917/ntbt"} +xref: ICD10CM:T56.1 {source="Orphanet:1917", source="Orphanet:1917/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D020262 {source="MONDO:equivalentTo"} xref: Orphanet:1917 {source="MONDO:equivalentTo"} xref: SCTID:62110005 {source="MONDO:equivalentTo"} -xref: UMLS:C0086626 {source="Orphanet:1917", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1917/e"} -xref: UMLS:C0265376 {source="Orphanet:1917", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1917/e"} +xref: UMLS:C0086626 {source="Orphanet:1917", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1917/e"} +xref: UMLS:C0265376 {source="Orphanet:1917", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1917/e"} is_a: MONDO:0015323 {source="Orphanet:1917"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0016677 {source="Orphanet:1917"} ! toxic or drug-related embryofetopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome xsd:anyURI {source="GARD:0003575"} @@ -315687,11 +315528,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1918"} synonym: "minoxidil antenatal exposure" RELATED [GARD:0002308] synonym: "minoxidil antenatal infection" EXACT [Orphanet:1918] xref: GARD:0002308 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="Orphanet:1918", source="ORDO:1918/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:1918", source="Orphanet:1918/ntbt"} xref: ICD9:760.79 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:1918 {source="MONDO:equivalentTo"} xref: SCTID:254251003 {source="MONDO:equivalentTo"} -xref: UMLS:C0432373 {source="Orphanet:1918", source="ORDO:1918/e", source="MONDO:equivalentTo"} +xref: UMLS:C0432373 {source="Orphanet:1918", source="MONDO:equivalentTo", source="Orphanet:1918/e"} is_a: MONDO:0015323 {source="Orphanet:1918"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0016677 {source="Orphanet:1918"} ! toxic or drug-related embryofetopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome xsd:anyURI {source="GARD:0002308"} @@ -315703,7 +315544,7 @@ def: "A teratologic disorder associated with intrauterine exposure of phenorbarb subset: ordo_malformation_syndrome {source="Orphanet:1919"} synonym: "phenobarbital antenatal exposure" RELATED [GARD:0004315] xref: GARD:0004315 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q86.8 {source="Orphanet:1919", source="ORDO:1919/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:1919/ntbt", source="Orphanet:1919"} xref: Orphanet:1919 {source="MONDO:equivalentTo"} xref: SCTID:715431002 {source="MONDO:equivalentTo"} xref: UMLS:C4275281 {source="MONDO:equivalentTo"} @@ -315720,7 +315561,7 @@ synonym: "Hersh Podruch Weisskopk syndrome" RELATED [MESH:C538114] synonym: "microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency" RELATED [GARD:0002672] synonym: "toluene embryopathy" EXACT [GARD:0002672, MESH:C538114] xref: GARD:0002672 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="ORDO:1920/ntbt", source="Orphanet:1920"} +xref: ICD10CM:Q86.8 {source="Orphanet:1920", source="Orphanet:1920/ntbt"} xref: MESH:C538114 {source="MONDO:equivalentTo", source="UMLS:C2931737"} xref: Orphanet:1920 {source="MONDO:equivalentTo"} xref: UMLS:C2931737 {source="GARD:0002672", source="MONDO:equivalentTo"} @@ -315743,7 +315584,7 @@ synonym: "Methimazole/carbimazole embryopathy" EXACT [GARD:0003573, Orphanet:192 synonym: "MMI/CMZ embryofetopathy" EXACT [Orphanet:1923] synonym: "MMI/CMZ embryopathy" EXACT [Orphanet:1923] xref: GARD:0003573 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="ORDO:1923/ntbt", source="Orphanet:1923"} +xref: ICD10CM:Q86.8 {source="Orphanet:1923", source="Orphanet:1923/ntbt"} xref: Orphanet:1923 {source="MONDO:equivalentTo", source="GARD:0003573"} xref: SCTID:724144006 {source="MONDO:equivalentTo"} xref: UMLS:C4510379 {source="MONDO:equivalentTo"} @@ -315757,9 +315598,9 @@ id: MONDO:0016018 name: diabetic embryopathy def: "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." [Orphanet:1926] subset: ordo_malformation_syndrome {source="Orphanet:1926"} -xref: ICD10CM:P00.4 {source="ORDO:1926/btnt", source="Orphanet:1926"} +xref: ICD10CM:P00.4 {source="Orphanet:1926/btnt", source="Orphanet:1926"} xref: NCIT:C113485 {source="MONDO:equivalentTo"} -xref: OMIM:601759 {source="MONDO:superClassOf", source="ORDO:1926/btnt", source="Orphanet:1926"} +xref: OMIM:601759 {source="Orphanet:1926/btnt", source="MONDO:superClassOf", source="Orphanet:1926"} xref: Orphanet:1926 {source="MONDO:equivalentTo"} xref: SCTID:716020005 {source="MONDO:equivalentTo"} xref: UMLS:C3830518 {source="MONDO:equivalentTo", source="NCIT:C113485"} @@ -315779,14 +315620,14 @@ synonym: "Rasmussen encephalitis" EXACT [NCIT:C125384] synonym: "Rasmussen syndrome" EXACT [Orphanet:1929] synonym: "RE" RELATED ABBREVIATION [GARD:0007527] xref: GARD:0007527 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G04.8 {source="Orphanet:1929", source="ORDO:1929/ntbt"} +xref: ICD10CM:G04.8 {source="Orphanet:1929", source="Orphanet:1929/ntbt"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535291 {source="Orphanet:1929", source="ORDO:1929/e", source="MONDO:equivalentTo"} +xref: MESH:C535291 {source="Orphanet:1929", source="MONDO:equivalentTo", source="Orphanet:1929/e"} xref: NCIT:C125384 {source="MONDO:equivalentTo"} xref: Orphanet:1929 {source="MONDO:equivalentTo"} xref: SCTID:230191005 {source="MONDO:equivalentTo"} xref: UMLS:C0393484 {source="Orphanet:1929", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2930868 {source="Orphanet:1929", source="ORDO:1929/e", source="NCIT:C125384", source="MONDO:equivalentTo"} +xref: UMLS:C2930868 {source="Orphanet:1929", source="NCIT:C125384", source="MONDO:equivalentTo", source="Orphanet:1929/e"} is_a: MONDO:0019956 {source="MESH:C535291", source="MONDO:Redundant", source="NCIT:C125384", source="Orphanet:1929/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis is_a: MONDO:0020068 {source="Orphanet:1929"} ! postinfectious encephalitis is_a: MONDO:0100028 {source="http://orcid.org/0000-0001-8486-0558"} ! immune epilepsy @@ -315796,7 +315637,7 @@ id: MONDO:0016020 name: frontal encephalocele subset: ordo_clinical_subtype {source="Orphanet:1931"} synonym: "anterior encephalocele" EXACT [Orphanet:1931] -xref: ICD10CM:Q01.0 {source="MONDO:equivalentTo", source="ORDO:1931/e", source="Orphanet:1931", source="ORDO:1931/specific"} +xref: ICD10CM:Q01.0 {source="MONDO:equivalentTo", source="Orphanet:1931/specific", source="Orphanet:1931", source="Orphanet:1931/e"} xref: Orphanet:1931 {source="MONDO:equivalentTo"} xref: SCTID:253103006 {source="MONDO:equivalentTo"} xref: UMLS:C0431289 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1931"} @@ -315829,19 +315670,19 @@ synonym: "myoclonus epilepsy" RELATED [GARD:0007142] xref: DOID:308 {source="MONDO:equivalentTo"} xref: EFO:1001900 {source="MONDO:equivalentTo"} xref: GARD:0007142 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="ORDO:1935/inclusion", source="ORDO:1935/e", source="Orphanet:1935"} +xref: ICD10CM:G40.4 {source="Orphanet:1935/e", source="Orphanet:1935/inclusion", source="Orphanet:1935"} xref: MESH:D004831 {source="DOID:308"} xref: NCIT:C116593 {source="MONDO:equivalentTo"} -xref: OMIM:609304 {source="ORDO:1935/btnt", source="MONDO:superClassOf", source="Orphanet:1935"} -xref: OMIM:616341 {source="ORDO:1935/btnt", source="MONDO:superClassOf", source="Orphanet:1935"} -xref: OMIM:617105 {source="ORDO:1935/btnt", source="MONDO:superClassOf", source="Orphanet:1935"} +xref: OMIM:609304 {source="MONDO:superClassOf", source="Orphanet:1935/btnt", source="Orphanet:1935"} +xref: OMIM:616341 {source="MONDO:superClassOf", source="Orphanet:1935/btnt", source="Orphanet:1935"} +xref: OMIM:617105 {source="MONDO:superClassOf", source="Orphanet:1935/btnt", source="Orphanet:1935"} xref: Orphanet:1935 {source="MONDO:equivalentTo"} xref: SCTID:192847001 {source="DOID:308"} xref: SCTID:192992007 {source="DOID:308"} xref: SCTID:37356005 {source="DOID:308"} xref: SCTID:44423001 {source="MONDO:equivalentTo"} xref: UMLS:C0014550 {source="MONDO:equivalentTo", source="DOID:308"} -xref: UMLS:C0270855 {source="NCIT:C116593", source="MONDO:equivalentTo", source="ORDO:1935/e", source="Orphanet:1935"} +xref: UMLS:C0270855 {source="NCIT:C116593", source="Orphanet:1935/e", source="MONDO:equivalentTo", source="Orphanet:1935"} is_a: MONDO:0000412 {source="DOID:308"} ! neonatal period electroclinical syndrome is_a: MONDO:0005560 {source="DOID:308/inferred", source="EFO:1001900/inferred", source="NCIT:C116593", source="indirect", source="linkedlifedata"} ! brain disorder is_a: MONDO:0016801 {source="Orphanet:1935"} ! mitochondrial substrate carrier disorder @@ -315859,7 +315700,7 @@ replaced_by: MONDO:0001476 id: MONDO:0016024 name: shoulder and thorax deformity-congenital heart disease syndrome subset: ordo_malformation_syndrome {source="Orphanet:1940"} -xref: ICD10CM:Q87.8 {source="ORDO:1940/attributed", source="ORDO:1940/ntbt", source="Orphanet:1940"} +xref: ICD10CM:Q87.8 {source="Orphanet:1940", source="Orphanet:1940/attributed", source="Orphanet:1940/ntbt"} xref: Orphanet:1940 {source="MONDO:equivalentTo"} is_a: MONDO:0015929 {source="Orphanet:1940"} ! thoracic malformation is_a: MONDO:0018234 ! dysostosis @@ -315884,10 +315725,10 @@ synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169] synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942] synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942] xref: GARD:0002169 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="ORDO:1942/attributed", source="ORDO:1942/ntbt", source="Orphanet:1942"} +xref: ICD10CM:G40.4 {source="Orphanet:1942", source="Orphanet:1942/attributed", source="Orphanet:1942/ntbt"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:615369 {source="ORDO:1942/btnt", source="MONDO:superClassOf", source="Orphanet:1942"} -xref: OMIM:616421 {source="ORDO:1942/btnt", source="MONDO:superClassOf", source="Orphanet:1942"} +xref: OMIM:615369 {source="MONDO:superClassOf", source="Orphanet:1942", source="Orphanet:1942/btnt"} +xref: OMIM:616421 {source="MONDO:superClassOf", source="Orphanet:1942", source="Orphanet:1942/btnt"} xref: Orphanet:1942 {source="GARD:0002169", source="MONDO:equivalentTo"} xref: SCTID:230421008 {source="MONDO:equivalentTo"} xref: UMLS:C0393702 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1942"} @@ -315902,7 +315743,7 @@ def: "An infantile epilepsy syndrome characterized by early-onset progressive en subset: gard_rare {source="GARD:0002995"} subset: ordo_disease {source="Orphanet:1943"} xref: GARD:0002995 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="ORDO:1943/ntbt", source="Orphanet:1943"} +xref: ICD10CM:G40.4 {source="Orphanet:1943", source="Orphanet:1943/ntbt"} xref: Orphanet:1943 {source="MONDO:equivalentTo"} xref: SCTID:724274009 {source="MONDO:equivalentTo"} xref: UMLS:C4510564 {source="MONDO:equivalentTo"} @@ -315924,24 +315765,24 @@ synonym: "benign neonatal convulsions" EXACT [DOID:14264] synonym: "BFNS" EXACT ABBREVIATION [Orphanet:1949] synonym: "seizures, benign familial neonatal" EXACT [OMIMPS:121200] xref: DOID:14264 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="ORDO:1949/attributed", source="ORDO:1949/ntbt", source="Orphanet:1949"} -xref: MedDRA:10067866 {source="Orphanet:1949", source="ORDO:1949/e"} -xref: MESH:C535466 {source="Orphanet:1949", source="ORDO:1949/e"} -xref: MESH:D020936 {source="DOID:14264", source="Orphanet:1949", source="ORDO:1949/e"} +xref: ICD10CM:G40.3 {source="Orphanet:1949/attributed", source="Orphanet:1949/ntbt", source="Orphanet:1949"} +xref: MedDRA:10067866 {source="Orphanet:1949/e", source="Orphanet:1949"} +xref: MESH:C535466 {source="Orphanet:1949/e", source="Orphanet:1949"} +xref: MESH:D020936 {source="Orphanet:1949/e", source="DOID:14264", source="Orphanet:1949"} xref: NCIT:C117307 {source="MONDO:equivalentTo"} xref: NCIT:C84593 {source="DOID:14264"} -xref: OMIM:121200 {source="MONDO:superClassOf", source="DOID:14264", source="Orphanet:1949", source="ORDO:1949/e"} -xref: OMIM:121201 {source="MONDO:superClassOf", source="DOID:14264", source="ORDO:1949/btnt", source="Orphanet:1949"} -xref: OMIM:269720 {source="MONDO:superClassOf", source="DOID:14264", source="ORDO:1949/btnt", source="Orphanet:1949"} -xref: OMIM:608217 {source="MONDO:superClassOf", source="ORDO:1949/btnt", source="Orphanet:1949"} +xref: OMIM:121200 {source="Orphanet:1949/e", source="MONDO:superClassOf", source="DOID:14264", source="Orphanet:1949"} +xref: OMIM:121201 {source="MONDO:superClassOf", source="Orphanet:1949/btnt", source="DOID:14264", source="Orphanet:1949"} +xref: OMIM:269720 {source="MONDO:superClassOf", source="Orphanet:1949/btnt", source="DOID:14264", source="Orphanet:1949"} +xref: OMIM:608217 {source="MONDO:superClassOf", source="Orphanet:1949/btnt", source="Orphanet:1949"} xref: OMIMPS:121200 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1949 {source="MONDO:equivalentTo", source="DOID:14264"} xref: SCTID:276724002 {source="DOID:14264"} xref: SCTID:38281008 {source="MONDO:equivalentTo", source="DOID:14264"} -xref: UMLS:C0220669 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1949", source="ORDO:1949/e"} +xref: UMLS:C0220669 {source="Orphanet:1949/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1949"} xref: UMLS:C0270851 {source="MONDO:notFoundInDiseaseSubset", source="DOID:14264"} xref: UMLS:C1852581 {source="MONDO:superClassOf", source="NCIT:C117307"} -xref: UMLS:C2930911 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1949", source="ORDO:1949/e"} +xref: UMLS:C2930911 {source="Orphanet:1949/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1949"} is_a: MONDO:0000412 {source="DOID:14264"} ! neonatal period electroclinical syndrome is_a: MONDO:0005027 {source="DOID:14264/inferred", source="MONDO:Redundant", source="NCIT:C117307", source="indirect", source="linkedlifedata"} ! epilepsy is_a: MONDO:0020070 {source="Orphanet:1949"} ! neonatal epilepsy syndrome @@ -315954,16 +315795,16 @@ name: erythromelalgia def: "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders." [Orphanet:1956] subset: ordo_disease {source="Orphanet:1956"} xref: DOID:9240 {source="MONDO:equivalentTo"} -xref: ICD10CM:I73.8 {source="ORDO:1956/inclusion", source="ORDO:1956/ntbt", source="Orphanet:1956"} +xref: ICD10CM:I73.8 {source="Orphanet:1956/inclusion", source="Orphanet:1956", source="Orphanet:1956/ntbt"} xref: ICD10CM:I73.81 {source="MONDO:equivalentTo", source="DOID:9240"} xref: ICD9:443.82 {source="MONDO:equivalentTo", source="i2s", source="DOID:9240"} -xref: MedDRA:10015284 {source="Orphanet:1956", source="ORDO:1956/e"} -xref: MESH:D004916 {source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956", source="ORDO:1956/e"} +xref: MedDRA:10015284 {source="Orphanet:1956/e", source="Orphanet:1956"} +xref: MESH:D004916 {source="Orphanet:1956/e", source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956"} xref: NCIT:C34593 {source="MONDO:equivalentTo", source="DOID:9240"} xref: Orphanet:1956 {source="MONDO:equivalentTo"} xref: SCTID:238777005 {source="DOID:9240"} xref: SCTID:37151006 {source="MONDO:equivalentTo", source="DOID:9240"} -xref: UMLS:C0014804 {source="NCIT:C34593", source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956", source="ORDO:1956/e"} +xref: UMLS:C0014804 {source="Orphanet:1956/e", source="NCIT:C34593", source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956"} is_a: MONDO:0005294 {source="DOID:9240", source="MESH:D004916"} ! peripheral vascular disease is_a: MONDO:0015365 {source="Orphanet:1956"} ! autosomal dominant hereditary sensory and autonomic neuropathy @@ -315974,7 +315815,7 @@ def: "Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal subset: ordo_disease {source="Orphanet:1957"} synonym: "olfactory neuroblastoma" EXACT [Orphanet:1957] xref: GARD:0002197 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C30.0 {source="ORDO:1957/ntbt", source="Orphanet:1957"} +xref: ICD10CM:C30.0 {source="Orphanet:1957/ntbt", source="Orphanet:1957"} xref: Orphanet:1957 {source="MONDO:equivalentTo"} xref: SCTID:422886007 {source="MONDO:equivalentTo"} xref: UMLS:C0206717 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1957"} @@ -315992,16 +315833,16 @@ synonym: "Evans' syndrome" EXACT [MONDO:0004683] synonym: "immune pancytopenia" EXACT [Orphanet:1959] xref: DOID:8931 {source="MONDO:equivalentTo"} xref: GARD:0006389 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.3 {source="ORDO:1959/ntbt", source="Orphanet:1959"} +xref: ICD10CM:D69.3 {source="Orphanet:1959/ntbt", source="Orphanet:1959"} xref: ICD10CM:D69.41 {source="DOID:8931", source="MONDO:equivalentTo"} xref: ICD9:287.32 {source="DOID:8931", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10053873 {source="ORDO:1959/e", source="Orphanet:1959"} +xref: MedDRA:10053873 {source="Orphanet:1959/e", source="Orphanet:1959"} xref: MESH:C536380 {source="DOID:8931", source="MONDO:equivalentTo"} xref: NCIT:C61284 {source="DOID:8931", source="MONDO:equivalentTo"} xref: Orphanet:1959 {source="MONDO:equivalentTo"} xref: SCTID:191315003 {source="DOID:8931"} xref: SCTID:75331009 {source="DOID:8931", source="MONDO:equivalentTo"} -xref: UMLS:C0272126 {source="DOID:8931", source="MONDO:equivalentTo", source="NCIT:C61284", source="ORDO:1959/e", source="Orphanet:1959"} +xref: UMLS:C0272126 {source="DOID:8931", source="Orphanet:1959/e", source="MONDO:equivalentTo", source="NCIT:C61284", source="Orphanet:1959"} is_a: MONDO:0002254 {source="NCIT:C61284"} ! syndromic disease is_a: MONDO:0004680 {source="DOID:8931"} ! primary thrombocytopenia is_a: MONDO:0007179 {source="DOID:8931/inferred", source="MESH:C536380/inferred", source="MONDO:Redundant", source="NCIT:C61284", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune disease @@ -316017,10 +315858,10 @@ synonym: "faces syndrome" EXACT [Orphanet:1969] synonym: "facial features (unique), anorexia, cachexia, eye and skin anomalies" RELATED [GARD:0002221] synonym: "Friedman-Goodman syndrome" EXACT [Orphanet:1969] xref: GARD:0002221 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:1969", source="ORDO:1969/attributed", source="ORDO:1969/ntbt"} -xref: MESH:C536384 {source="MONDO:equivalentTo", source="Orphanet:1969", source="ORDO:1969/e"} +xref: ICD10CM:Q87.0 {source="Orphanet:1969/attributed", source="Orphanet:1969/ntbt", source="Orphanet:1969"} +xref: MESH:C536384 {source="Orphanet:1969/e", source="MONDO:equivalentTo", source="Orphanet:1969"} xref: Orphanet:1969 {source="MONDO:equivalentTo"} -xref: UMLS:C2931183 {source="MONDO:equivalentTo", source="Orphanet:1969", source="ORDO:1969/e"} +xref: UMLS:C2931183 {source="Orphanet:1969/e", source="MONDO:equivalentTo", source="Orphanet:1969"} is_a: MONDO:0015161 {source="Orphanet:1969", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1969", source="Orphanet:1969/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043008 {source="Orphanet:1969"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -316034,11 +315875,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1987"} synonym: "congenital short femur" EXACT [Orphanet:1987] synonym: "femoral intercalary meromelia" EXACT [Orphanet:1987] xref: GARD:0001503 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q72.4 {source="Orphanet:1987", source="ORDO:1987/e", source="ORDO:1987/specific"} +xref: ICD10CM:Q72.4 {source="Orphanet:1987/specific", source="Orphanet:1987", source="Orphanet:1987/e"} xref: ICD9:755.34 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:1987 {source="MONDO:equivalentTo"} xref: SCTID:93255008 {source="MONDO:equivalentTo"} -xref: UMLS:C0345375 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1987", source="ORDO:1987/e"} +xref: UMLS:C0345375 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1987", source="Orphanet:1987/e"} is_a: MONDO:0019713 {source="Orphanet:1987", source="Orphanet:1987/inferred"} ! non-syndromic limb reduction defect [Term] @@ -316053,19 +315894,19 @@ synonym: "Cornelia de Lange syndrome" EXACT CLINGEN_PREFERRED [] synonym: "De Lange syndrome" EXACT [DOID:11725] xref: DOID:11725 {source="MONDO:equivalentTo"} xref: GARD:0010109 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:199/inclusion", source="ORDO:199/ntbt", source="DOID:11725", source="Orphanet:199"} -xref: MedDRA:10056354 {source="ORDO:199/e", source="Orphanet:199"} -xref: MESH:D003635 {source="DOID:11725", source="ORDO:199/e", source="Orphanet:199"} +xref: ICD10CM:Q87.1 {source="DOID:11725", source="Orphanet:199/ntbt", source="Orphanet:199/inclusion", source="Orphanet:199"} +xref: MedDRA:10056354 {source="Orphanet:199/e", source="Orphanet:199"} +xref: MESH:D003635 {source="Orphanet:199/e", source="DOID:11725", source="Orphanet:199"} xref: NCIT:C75016 {source="DOID:11725", source="MONDO:equivalentTo"} -xref: OMIM:122470 {source="DOID:11725", source="MONDO:superClassOf", source="ORDO:199/e", source="Orphanet:199"} -xref: OMIM:300590 {source="ORDO:199/btnt", source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199"} -xref: OMIM:300882 {source="ORDO:199/btnt", source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199"} -xref: OMIM:610759 {source="ORDO:199/btnt", source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199"} -xref: OMIM:614701 {source="ORDO:199/btnt", source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199"} +xref: OMIM:122470 {source="Orphanet:199/e", source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199"} +xref: OMIM:300590 {source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199/btnt", source="Orphanet:199"} +xref: OMIM:300882 {source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199/btnt", source="Orphanet:199"} +xref: OMIM:610759 {source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199/btnt", source="Orphanet:199"} +xref: OMIM:614701 {source="DOID:11725", source="MONDO:superClassOf", source="Orphanet:199/btnt", source="Orphanet:199"} xref: OMIMPS:122470 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:199 {source="DOID:11725", source="MONDO:equivalentTo"} xref: SCTID:40354009 {source="DOID:11725", source="MONDO:superClassOf"} -xref: UMLS:C0270972 {source="DOID:11725", source="MONDO:equivalentTo", source="ORDO:199/e", source="NCIT:C75016", source="Orphanet:199"} +xref: UMLS:C0270972 {source="Orphanet:199/e", source="DOID:11725", source="MONDO:equivalentTo", source="NCIT:C75016", source="Orphanet:199"} xref: UMLS:CN239271 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:199", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75016", source="indirect"} ! syndromic disease @@ -316086,19 +315927,19 @@ name: cleft lip with or without cleft palate subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1991"} synonym: "Tessier cleft number 1,2" EXACT [Orphanet:1991] -xref: ICD10CM:Q36.0 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q36.1 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q36.9 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.0 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.1 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.2 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.3 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.4 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.5 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.8 {source="Orphanet:1991", source="ORDO:1991/btnt"} -xref: ICD10CM:Q37.9 {source="Orphanet:1991", source="ORDO:1991/btnt"} +xref: ICD10CM:Q36.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q36.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q36.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.2 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.3 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.4 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.5 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.8 {source="Orphanet:1991/btnt", source="Orphanet:1991"} +xref: ICD10CM:Q37.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: Orphanet:1991 {source="MONDO:equivalentTo"} -xref: UMLS:C0008924 {source="ORDO:1991/e", source="Orphanet:1991", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0008924 {source="Orphanet:1991", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1991/e"} is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton @@ -316113,16 +315954,16 @@ synonym: "Nelson's syndrome" EXACT [DOID:4968] synonym: "Ridges-off-the-end syndrome" RELATED [GARD:0007170] xref: DOID:4968 {source="MONDO:equivalentTo"} xref: GARD:0007170 {source="MONDO:equivalentTo"} -xref: ICD10CM:E24.1 {source="Orphanet:199244", source="ORDO:199244/e", source="DOID:4968"} -xref: MedDRA:10028913 {source="Orphanet:199244", source="ORDO:199244/e"} +xref: ICD10CM:E24.1 {source="Orphanet:199244", source="Orphanet:199244/e", source="DOID:4968"} +xref: MedDRA:10028913 {source="Orphanet:199244", source="Orphanet:199244/e"} xref: MESH:C531754 {source="MONDO:equivalentTo"} -xref: MESH:D009347 {source="Orphanet:199244", source="ORDO:199244/e", source="MONDO:equivalentTo", source="DOID:4968"} +xref: MESH:D009347 {source="Orphanet:199244", source="MONDO:equivalentTo", source="Orphanet:199244/e", source="DOID:4968"} xref: NCIT:C84917 {source="MONDO:equivalentTo", source="DOID:4968"} xref: OMIM:125530 {source="MONDO:relatedTo", source="GARD:0007170"} xref: Orphanet:199244 {source="MONDO:equivalentTo"} xref: SCTID:190503006 {source="DOID:4968"} xref: SCTID:43019009 {source="MONDO:equivalentTo", source="DOID:4968"} -xref: UMLS:C0027577 {source="Orphanet:199244", source="ORDO:199244/e", source="MONDO:equivalentTo", source="NCIT:C84917", source="DOID:4968"} +xref: UMLS:C0027577 {source="Orphanet:199244", source="MONDO:equivalentTo", source="NCIT:C84917", source="Orphanet:199244/e", source="DOID:4968"} is_a: MONDO:0003429 {source="Orphanet:199244"} ! functioning pituitary gland adenoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome xsd:anyURI {source="GARD:0007170"} @@ -316137,11 +315978,11 @@ subset: ordo_disease {source="Orphanet:199251"} synonym: "Lederhose disease" RELATED [GARD:0006873] synonym: "plantar fibromatosis" EXACT [Orphanet:199251] xref: GARD:0006873 {source="MONDO:equivalentTo"} -xref: ICD10CM:M72.2 {source="Orphanet:199251", source="ORDO:199251/e"} -xref: MedDRA:10035154 {source="Orphanet:199251", source="ORDO:199251/e"} -xref: MESH:C537000 {source="MONDO:equivalentTo", source="Orphanet:199251", source="ORDO:199251/e"} +xref: ICD10CM:M72.2 {source="Orphanet:199251/e", source="Orphanet:199251"} +xref: MedDRA:10035154 {source="Orphanet:199251/e", source="Orphanet:199251"} +xref: MESH:C537000 {source="Orphanet:199251/e", source="MONDO:equivalentTo", source="Orphanet:199251"} xref: Orphanet:199251 {source="MONDO:equivalentTo"} -xref: UMLS:C0158360 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199251", source="ORDO:199251/e"} +xref: UMLS:C0158360 {source="Orphanet:199251/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199251"} is_a: MONDO:0016037 {source="Orphanet:199251"} ! superficial Fibromatosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4451 property_value: IAO:0006012 "2022-05-01" xsd:string @@ -316155,12 +315996,12 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:199257"} synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814] xref: EFO:1000556 {source="MONDO:equivalentTo"} -xref: ICD10CM:M72.8 {source="Orphanet:199257", source="ORDO:199257/ntbt"} +xref: ICD10CM:M72.8 {source="Orphanet:199257/ntbt", source="Orphanet:199257"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C6814 {source="MONDO:equivalentTo", source="EFO:1000556", source="exact-label-match"} xref: Orphanet:199257 {source="MONDO:equivalentTo"} xref: SCTID:238853007 {source="MONDO:equivalentTo"} -xref: UMLS:C0406571 {source="Orphanet:199257", source="ORDO:199257/e", source="MONDO:equivalentTo", source="NCIT:C6814"} +xref: UMLS:C0406571 {source="Orphanet:199257", source="MONDO:equivalentTo", source="Orphanet:199257/e", source="NCIT:C6814"} is_a: MONDO:0005031 {source="EFO:1000556", source="NCIT:C6814"} ! fibromatosis relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:199257"} ! obsolete rare skin tumor or hamartoma @@ -316174,11 +316015,11 @@ synonym: "Juvenile aponeurotic fibroma" EXACT [NCIT:C4818] synonym: "juvenile aponeurotic fibromatosis" EXACT [Orphanet:199260] synonym: "Juvenile aponeurotic fibrosis" EXACT [NCIT:C4818] synonym: "Keasby tumor" EXACT [Orphanet:199260] -xref: ICD10CM:M72.8 {source="Orphanet:199260", source="ORDO:199260/ntbt"} +xref: ICD10CM:M72.8 {source="Orphanet:199260/ntbt", source="Orphanet:199260"} xref: NCIT:C4818 {source="MONDO:equivalentTo"} xref: Orphanet:199260 {source="MONDO:equivalentTo"} xref: SCTID:703614006 {source="MONDO:equivalentTo"} -xref: UMLS:C0553647 {source="MONDO:equivalentTo", source="Orphanet:199260", source="ORDO:199260/e"} +xref: UMLS:C0553647 {source="Orphanet:199260/e", source="MONDO:equivalentTo", source="Orphanet:199260"} is_a: MONDO:0005167 {source="NCIT:C4818"} ! fibroma is_a: MONDO:0016037 {source="Orphanet:199260"} ! superficial Fibromatosis @@ -316200,12 +316041,12 @@ synonym: "Reye's tumor" EXACT [NCIT:C3456, Orphanet:199267] xref: EFO:1000301 {source="MONDO:equivalentTo"} xref: GARD:0008487 {source="MONDO:equivalentTo"} xref: HP:0025197 {source="MONDO:otherHierarchy"} -xref: ICD10CM:M72.8 {source="Orphanet:199267", source="ORDO:199267/ntbt"} +xref: ICD10CM:M72.8 {source="Orphanet:199267/ntbt", source="Orphanet:199267"} xref: ICD9:238.8 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C3456 {source="MONDO:equivalentTo", source="EFO:1000301"} xref: Orphanet:199267 {source="MONDO:equivalentTo"} xref: SCTID:399903008 {source="MONDO:equivalentTo"} -xref: UMLS:C1318562 {source="ORDO:199267/e", source="Orphanet:199267", source="MONDO:equivalentTo", source="NCIT:C3456"} +xref: UMLS:C1318562 {source="Orphanet:199267", source="MONDO:equivalentTo", source="NCIT:C3456", source="Orphanet:199267/e"} is_a: MONDO:0005031 {source="EFO:1000301", source="NCIT:C3456"} ! fibromatosis is_a: MONDO:0016037 {source="Orphanet:199267", source="linkedlifedata"} ! superficial Fibromatosis relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4093 @@ -316222,12 +316063,12 @@ synonym: "progressive isolated segmental anhidrosis" EXACT [Orphanet:199282] synonym: "sudden onset of unilateral flushing and sweating" RELATED [GARD:0008610] synonym: "unilateral loss of facial flushing and sweating with contralateral anhidrosis" RELATED [GARD:0008610] xref: GARD:0008610 {source="MONDO:equivalentTo"} -xref: ICD10CM:G90.8 {source="Orphanet:199282", source="ORDO:199282/attributed", source="ORDO:199282/ntbt"} +xref: ICD10CM:G90.8 {source="Orphanet:199282/attributed", source="Orphanet:199282/ntbt", source="Orphanet:199282"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535634 {source="MONDO:equivalentTo", source="Orphanet:199282", source="ORDO:199282/e"} +xref: MESH:C535634 {source="Orphanet:199282/e", source="MONDO:equivalentTo", source="Orphanet:199282"} xref: Orphanet:199282 {source="MONDO:equivalentTo"} xref: SCTID:14070001000004105 {source="MONDO:equivalentTo"} -xref: UMLS:C2029348 {source="MONDO:equivalentTo", source="Orphanet:199282", source="ORDO:199282/e"} +xref: UMLS:C2029348 {source="Orphanet:199282/e", source="MONDO:equivalentTo", source="Orphanet:199282"} is_a: MONDO:0001292 {source="Orphanet:199282"} ! autonomic nervous system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0018557"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome xsd:anyURI {source="GARD:0008610"} @@ -316237,11 +316078,11 @@ id: MONDO:0016041 name: congenital microgastria def: "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." [Orphanet:199293] subset: ordo_morphological_anomaly {source="Orphanet:199293"} -xref: ICD10CM:Q40.2 {source="Orphanet:199293", source="ORDO:199293/ntbt"} +xref: ICD10CM:Q40.2 {source="Orphanet:199293/ntbt", source="Orphanet:199293"} xref: ICD9:750.7 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:199293 {source="MONDO:equivalentTo"} xref: SCTID:83714006 {source="MONDO:equivalentTo"} -xref: UMLS:C0266150 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199293", source="ORDO:199293/e"} +xref: UMLS:C0266150 {source="Orphanet:199293/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199293"} is_a: MONDO:0015209 {source="Orphanet:199293"} ! non-syndromic gastroduodenal malformation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -316251,7 +316092,7 @@ id: MONDO:0016042 name: late-onset isolated ACTH deficiency def: "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." [Orphanet:199299] subset: ordo_disease {source="Orphanet:199299"} -xref: ICD10CM:E23.6 {source="Orphanet:199299", source="ORDO:199299/ntbt"} +xref: ICD10CM:E23.6 {source="Orphanet:199299", source="Orphanet:199299/ntbt"} xref: Orphanet:199299 {source="MONDO:equivalentTo"} is_a: MONDO:0019832 {source="Orphanet:199299"} ! acquired pituitary hormone deficiency @@ -316262,21 +316103,21 @@ def: "Isolated cleft lip is a fissure type embryopathy extending from the upper subset: ordo_morphological_anomaly {source="Orphanet:199302"} synonym: "isolated cleft lip (disease)" EXACT [] synonym: "nonsyndromic cleft lip (disease)" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q36.0 {source="ORDO:199302/btnt", source="Orphanet:199302"} -xref: ICD10CM:Q36.1 {source="ORDO:199302/btnt", source="Orphanet:199302"} -xref: ICD10CM:Q36.9 {source="ORDO:199302/btnt", source="Orphanet:199302"} -xref: MedDRA:10009259 {source="ORDO:199302/e", source="Orphanet:199302"} -xref: OMIM:119530 {source="ORDO:199302/nd", source="MONDO:superClassOf", source="Orphanet:199302"} -xref: OMIM:129400 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:199302/ntbt", source="Orphanet:199302"} -xref: OMIM:225060 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:199302/ntbt", source="Orphanet:199302"} -xref: OMIM:600757 {source="ORDO:199302/nd", source="MONDO:superClassOf", source="Orphanet:199302"} -xref: OMIM:602966 {source="ORDO:199302/nd", source="MONDO:superClassOf", source="Orphanet:199302"} -xref: OMIM:608371 {source="ORDO:199302/nd", source="MONDO:superClassOf", source="Orphanet:199302"} -xref: OMIM:608874 {source="MONDO:superClassOf", source="ORDO:199302/btnt", source="Orphanet:199302"} -xref: OMIM:610361 {source="ORDO:199302/nd", source="MONDO:superClassOf", source="Orphanet:199302"} -xref: OMIM:612858 {source="ORDO:199302/nd", source="MONDO:superClassOf", source="Orphanet:199302"} +xref: ICD10CM:Q36.0 {source="Orphanet:199302", source="Orphanet:199302/btnt"} +xref: ICD10CM:Q36.1 {source="Orphanet:199302", source="Orphanet:199302/btnt"} +xref: ICD10CM:Q36.9 {source="Orphanet:199302", source="Orphanet:199302/btnt"} +xref: MedDRA:10009259 {source="Orphanet:199302", source="Orphanet:199302/e"} +xref: OMIM:119530 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/nd"} +xref: OMIM:129400 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:199302", source="Orphanet:199302/ntbt"} +xref: OMIM:225060 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:199302", source="Orphanet:199302/ntbt"} +xref: OMIM:600757 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/nd"} +xref: OMIM:602966 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/nd"} +xref: OMIM:608371 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/nd"} +xref: OMIM:608874 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/btnt"} +xref: OMIM:610361 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/nd"} +xref: OMIM:612858 {source="MONDO:superClassOf", source="Orphanet:199302", source="Orphanet:199302/nd"} xref: Orphanet:199302 {source="MONDO:equivalentTo"} -xref: UMLS:C0008924 {source="ORDO:199302/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199302"} +xref: UMLS:C0008924 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199302", source="Orphanet:199302/e"} is_a: MONDO:0016034 {source="Orphanet:0016043", source="Orphanet:199302"} ! cleft lip with or without cleft palate intersection_of: MONDO:0004747 ! cleft lip intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -316292,33 +316133,33 @@ synonym: "cleft lip and palate" EXACT [Orphanet:199306] synonym: "cleft lip-alveolus-palate syndrome" EXACT [Orphanet:199306] synonym: "FLP" EXACT ABBREVIATION [Orphanet:199306] xref: ICD10CM:Q35-Q37 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:Q37.0 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.1 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.2 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.3 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.4 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.5 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.8 {source="ORDO:199306/btnt", source="Orphanet:199306"} -xref: ICD10CM:Q37.9 {source="ORDO:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.0 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.1 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.2 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.3 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.4 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.5 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.8 {source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: ICD10CM:Q37.9 {source="Orphanet:199306/btnt", source="Orphanet:199306"} xref: ICD9:749.20 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:749.25 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10009260 {source="ORDO:199306/e", source="Orphanet:199306"} -xref: OMIM:119530 {source="ORDO:199306/nd", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:129400 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:199306/ntbt", source="Orphanet:199306"} -xref: OMIM:225060 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:199306/ntbt", source="Orphanet:199306"} -xref: OMIM:600625 {source="ORDO:199306/btnt", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:600757 {source="ORDO:199306/nd", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:602966 {source="ORDO:199306/nd", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:608371 {source="ORDO:199306/nd", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:608864 {source="ORDO:199306/btnt", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:608874 {source="ORDO:199306/btnt", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:610361 {source="ORDO:199306/nd", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:612858 {source="ORDO:199306/nd", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:613705 {source="ORDO:199306/btnt", source="MONDO:superClassOf", source="Orphanet:199306"} -xref: OMIM:616788 {source="ORDO:199306/btnt", source="MONDO:superClassOf", source="Orphanet:199306"} +xref: MedDRA:10009260 {source="Orphanet:199306/e", source="Orphanet:199306"} +xref: OMIM:119530 {source="MONDO:superClassOf", source="Orphanet:199306/nd", source="Orphanet:199306"} +xref: OMIM:129400 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:199306/ntbt", source="Orphanet:199306"} +xref: OMIM:225060 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:199306/ntbt", source="Orphanet:199306"} +xref: OMIM:600625 {source="MONDO:superClassOf", source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: OMIM:600757 {source="MONDO:superClassOf", source="Orphanet:199306/nd", source="Orphanet:199306"} +xref: OMIM:602966 {source="MONDO:superClassOf", source="Orphanet:199306/nd", source="Orphanet:199306"} +xref: OMIM:608371 {source="MONDO:superClassOf", source="Orphanet:199306/nd", source="Orphanet:199306"} +xref: OMIM:608864 {source="MONDO:superClassOf", source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: OMIM:608874 {source="MONDO:superClassOf", source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: OMIM:610361 {source="MONDO:superClassOf", source="Orphanet:199306/nd", source="Orphanet:199306"} +xref: OMIM:612858 {source="MONDO:superClassOf", source="Orphanet:199306/nd", source="Orphanet:199306"} +xref: OMIM:613705 {source="MONDO:superClassOf", source="Orphanet:199306/btnt", source="Orphanet:199306"} +xref: OMIM:616788 {source="MONDO:superClassOf", source="Orphanet:199306/btnt", source="Orphanet:199306"} xref: Orphanet:199306 {source="MONDO:equivalentTo"} xref: SCTID:66948001 {source="MONDO:equivalentTo"} -xref: UMLS:C0158646 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:199306/e", source="Orphanet:199306"} +xref: UMLS:C0158646 {source="Orphanet:199306/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199306"} is_a: MONDO:0016034 {source="Orphanet:199306"} ! cleft lip with or without cleft palate property_value: confidence "1.7876687750502525" xsd:double @@ -316328,7 +316169,7 @@ name: tetragametic chimerism def: "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." [Orphanet:199310] subset: ordo_malformation_syndrome {source="Orphanet:199310"} synonym: "46,XX/46,XY chimerism" EXACT [Orphanet:199310] -xref: ICD10CM:Q99.0 {source="ORDO:199310/specific", source="Orphanet:199310", source="ORDO:199310/e"} +xref: ICD10CM:Q99.0 {source="Orphanet:199310", source="Orphanet:199310/e", source="Orphanet:199310/specific"} xref: Orphanet:199310 {source="MONDO:equivalentTo"} xref: UMLS:CN200724 {source="MONDO:equivalentTo"} is_a: MONDO:0017975 {source="Orphanet:199310"} ! sex chromosome disorder of sex development @@ -316338,9 +316179,9 @@ id: MONDO:0016046 name: familial clubfoot with or without associated lower limb anomalies def: "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." [Orphanet:199315] subset: ordo_malformation_syndrome {source="Orphanet:199315"} -xref: ICD10CM:Q66.8 {source="ORDO:199315/attributed", source="ORDO:199315/ntbt", source="Orphanet:199315"} -xref: OMIM:119800 {source="ORDO:199315/btnt", source="MONDO:superClassOf", source="Orphanet:199315"} -xref: OMIM:613618 {source="ORDO:199315/btnt", source="MONDO:superClassOf", source="Orphanet:199315"} +xref: ICD10CM:Q66.8 {source="Orphanet:199315", source="Orphanet:199315/attributed", source="Orphanet:199315/ntbt"} +xref: OMIM:119800 {source="MONDO:superClassOf", source="Orphanet:199315", source="Orphanet:199315/btnt"} +xref: OMIM:613618 {source="MONDO:superClassOf", source="Orphanet:199315", source="Orphanet:199315/btnt"} xref: Orphanet:199315 {source="MONDO:equivalentTo"} xref: UMLS:CN200725 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -316352,18 +316193,18 @@ name: endophthalmitis def: "An infectious process affecting the internal structures of the eye." [NCIT:C34586] subset: ordo_disease {source="Orphanet:199323"} xref: DOID:4692 {source="MONDO:equivalentTo"} -xref: ICD10CM:H44.0 {source="Orphanet:199323", source="ORDO:199323/btnt", source="MONDO:superClassOf"} -xref: ICD10CM:H44.1 {source="Orphanet:199323", source="ORDO:199323/btnt"} +xref: ICD10CM:H44.0 {source="Orphanet:199323/btnt", source="Orphanet:199323", source="MONDO:superClassOf"} +xref: ICD10CM:H44.1 {source="Orphanet:199323/btnt", source="Orphanet:199323"} xref: ICD9:360.19 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10014801 {source="Orphanet:199323", source="ORDO:199323/e"} -xref: MESH:D009877 {source="Orphanet:199323", source="ORDO:199323/e", source="MONDO:equivalentTo", source="DOID:4692"} +xref: MedDRA:10014801 {source="Orphanet:199323", source="Orphanet:199323/e"} +xref: MESH:D009877 {source="Orphanet:199323", source="MONDO:equivalentTo", source="Orphanet:199323/e", source="DOID:4692"} xref: NCIT:C34586 {source="MONDO:equivalentTo", source="DOID:4692"} xref: Orphanet:199323 {source="MONDO:equivalentTo"} xref: SCTID:123052006 {source="DOID:4692"} xref: SCTID:128295000 {source="DOID:4692"} xref: SCTID:1847009 {source="MONDO:equivalentTo", source="DOID:4692"} xref: SCTID:82255004 {source="DOID:4692"} -xref: UMLS:C0014236 {source="Orphanet:199323", source="ORDO:199323/e", source="MONDO:equivalentTo", source="NCIT:C34586", source="DOID:4692"} +xref: UMLS:C0014236 {source="Orphanet:199323", source="MONDO:equivalentTo", source="NCIT:C34586", source="Orphanet:199323/e", source="DOID:4692"} is_a: MONDO:0001524 {source="DOID:4692"} ! globe disease is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34586/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease @@ -316375,7 +316216,7 @@ id: MONDO:0016048 name: isolated autosomal dominant hypomagnesemia, Glaudemans type def: "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." [Orphanet:199326] subset: ordo_disease {source="Orphanet:199326"} -xref: ICD10CM:E83.4 {source="ORDO:199326/attributed", source="ORDO:199326/ntbt", source="Orphanet:199326"} +xref: ICD10CM:E83.4 {source="Orphanet:199326", source="Orphanet:199326/attributed", source="Orphanet:199326/ntbt"} xref: Orphanet:199326 {source="MONDO:equivalentTo"} xref: SCTID:722008003 {source="MONDO:equivalentTo"} xref: UMLS:CN200728 {source="MONDO:equivalentTo"} @@ -316386,7 +316227,7 @@ id: MONDO:0016049 name: congenital myopathy, Paradas type def: "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." [Orphanet:199329] subset: ordo_disease {source="Orphanet:199329"} -xref: ICD10CM:G71.2 {source="ORDO:199329/attributed", source="ORDO:199329/ntbt", source="Orphanet:199329"} +xref: ICD10CM:G71.2 {source="Orphanet:199329", source="Orphanet:199329/attributed", source="Orphanet:199329/ntbt"} xref: Orphanet:199329 {source="MONDO:equivalentTo"} is_a: MONDO:0016145 {source="Orphanet:199329"} ! qualitative or quantitative defects of dysferlin is_a: MONDO:0019950 {source="Orphanet:199329"} ! congenital muscular dystrophy @@ -316412,10 +316253,10 @@ synonym: "cleft lip with progressive retinopathy" RELATED [GARD:0000435] synonym: "cleft lip-cone rod dystrophy syndrome" EXACT [Orphanet:1995] synonym: "cleft lip-progressive retinopathy syndrome" EXACT [Orphanet:1995] xref: GARD:0000435 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:1995/attributed", source="ORDO:1995/ntbt", source="Orphanet:1995"} +xref: ICD10CM:Q87.8 {source="Orphanet:1995", source="Orphanet:1995/attributed", source="Orphanet:1995/ntbt"} xref: MESH:C538272 {source="MONDO:equivalentTo"} xref: Orphanet:1995 {source="MONDO:equivalentTo"} -xref: UMLS:C2931789 {source="ORDO:1995/e", source="MONDO:equivalentTo", source="Orphanet:1995"} +xref: UMLS:C2931789 {source="MONDO:equivalentTo", source="Orphanet:1995", source="Orphanet:1995/e"} is_a: MONDO:0015161 {source="Orphanet:1995", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:1995"} ! orofacial clefting syndrome is_a: MONDO:0020240 {source="Orphanet:1995"} ! syndromic retinitis pigmentosa @@ -316427,10 +316268,10 @@ name: atypical autism def: "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" [Orphanet:199627] subset: ordo_disease {source="Orphanet:199627"} xref: ICD9:299.80 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10003747 {source="ORDO:199627/e", source="Orphanet:199627"} +xref: MedDRA:10003747 {source="Orphanet:199627/e", source="Orphanet:199627"} xref: Orphanet:199627 {source="MONDO:equivalentTo"} xref: SCTID:231536004 {source="MONDO:equivalentTo"} -xref: UMLS:C0338986 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:199627/e", source="Orphanet:199627"} +xref: UMLS:C0338986 {source="Orphanet:199627/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199627"} is_a: MONDO:0000594 {source="Orphanet:199627"} ! pervasive developmental disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015680"} ! rare @@ -316439,7 +316280,7 @@ id: MONDO:0016053 name: isolated cerebellar vermis hypoplasia def: "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." [Orphanet:199630] subset: ordo_morphological_anomaly {source="Orphanet:199630"} -xref: ICD10CM:Q04.3 {source="Orphanet:199630", source="ORDO:199630/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:199630/ntbt", source="Orphanet:199630"} xref: Orphanet:199630 {source="MONDO:equivalentTo"} xref: SCTID:766709000 {source="MONDO:equivalentTo"} is_a: MONDO:0020130 {source="Orphanet:199630"} ! malformation of the cerebellar vermis @@ -316478,10 +316319,10 @@ synonym: "primary microcephaly" EXACT [DOID:0070297] synonym: "true microcephaly" EXACT [DOID:0070297] xref: DOID:0070297 {source="MONDO:equivalentTo"} xref: GARD:0007038 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q02 {source="Orphanet:199642", source="ORDO:199642/attributed", source="ORDO:199642/ntbt"} -xref: MedDRA:10027534 {source="Orphanet:199642", source="ORDO:199642/e"} +xref: ICD10CM:Q02 {source="Orphanet:199642/attributed", source="Orphanet:199642/ntbt", source="Orphanet:199642"} +xref: MedDRA:10027534 {source="Orphanet:199642", source="Orphanet:199642/e"} xref: Orphanet:199642 {source="MONDO:equivalentTo"} -xref: UMLS:C0025958 {source="Orphanet:199642", source="ORDO:199642/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0025958 {source="Orphanet:199642", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199642/e"} is_a: MONDO:0001149 {source="DOID:0070297", source="MONDO:cjm"} ! microcephaly is_a: MONDO:0016054 {source="Orphanet:199642"} ! cerebral malformation is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:199642", source="Orphanet:199642/inferred"} ! genetic nervous system disorder @@ -316498,13 +316339,13 @@ synonym: "craniocele" RELATED [GARD:0006333] synonym: "cranium bifidum" RELATED [GARD:0006333] synonym: "encephalocele" RELATED [GARD:0006333] xref: GARD:0006333 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q01.0 {source="ORDO:199647/btnt", source="MONDO:superClassOf", source="Orphanet:199647", source="ORDO:199647/specific"} -xref: ICD10CM:Q01.1 {source="ORDO:199647/btnt", source="Orphanet:199647", source="ORDO:199647/specific"} -xref: ICD10CM:Q01.2 {source="ORDO:199647/btnt", source="MONDO:superClassOf", source="Orphanet:199647", source="ORDO:199647/specific"} -xref: ICD10CM:Q01.8 {source="ORDO:199647/btnt", source="Orphanet:199647", source="ORDO:199647/specific"} -xref: ICD10CM:Q01.9 {source="ORDO:199647/btnt", source="Orphanet:199647", source="ORDO:199647/specific"} -xref: MedDRA:10014617 {source="ORDO:199647/e", source="Orphanet:199647"} -xref: MESH:D004677 {source="ORDO:199647/e", source="Orphanet:199647"} +xref: ICD10CM:Q01.0 {source="Orphanet:199647/specific", source="MONDO:superClassOf", source="Orphanet:199647/btnt", source="Orphanet:199647"} +xref: ICD10CM:Q01.1 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"} +xref: ICD10CM:Q01.2 {source="Orphanet:199647/specific", source="MONDO:superClassOf", source="Orphanet:199647/btnt", source="Orphanet:199647"} +xref: ICD10CM:Q01.8 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"} +xref: ICD10CM:Q01.9 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"} +xref: MedDRA:10014617 {source="Orphanet:199647/e", source="Orphanet:199647"} +xref: MESH:D004677 {source="Orphanet:199647/e", source="Orphanet:199647"} xref: Orphanet:199647 {source="MONDO:equivalentTo"} is_a: MONDO:0017078 {source="Orphanet:199647"} ! cephalocele @@ -316525,7 +316366,7 @@ name: cleft lip/palate-deafness-sacral lipoma syndrome def: "Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." [Orphanet:2003] subset: ordo_malformation_syndrome {source="Orphanet:2003"} synonym: "Lowry-Yong syndrome" EXACT [Orphanet:2003] -xref: ICD10CM:Q87.8 {source="Orphanet:2003", source="ORDO:2003/attributed", source="ORDO:2003/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2003", source="Orphanet:2003/attributed", source="Orphanet:2003/ntbt"} xref: Orphanet:2003 {source="MONDO:equivalentTo"} xref: SCTID:716007007 {source="MONDO:equivalentTo"} xref: UMLS:CN200748 {source="MONDO:equivalentTo"} @@ -316546,10 +316387,10 @@ synonym: "LC" EXACT ABBREVIATION [Orphanet:2004] synonym: "LTEC" EXACT ABBREVIATION [Orphanet:2004] synonym: "tracheal cleft" EXACT [NCIT:C98622] xref: GARD:0003188 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q32.1 {source="Orphanet:2004", source="ORDO:2004/ntbt"} +xref: ICD10CM:Q32.1 {source="Orphanet:2004/ntbt", source="Orphanet:2004"} xref: MESH:C537875 {source="MONDO:equivalentTo"} xref: NCIT:C98622 {source="MONDO:equivalentTo"} -xref: OMIM:215800 {source="Orphanet:2004", source="MONDO:superClassOf", source="ORDO:2004/btnt"} +xref: OMIM:215800 {source="Orphanet:2004/btnt", source="Orphanet:2004", source="MONDO:superClassOf"} xref: Orphanet:2004 {source="MONDO:equivalentTo"} xref: SCTID:232461002 {source="MONDO:equivalentTo"} xref: UMLS:C1840311 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C98622"} @@ -316562,8 +316403,8 @@ is_a: MONDO:0015930 {source="Orphanet:2004"} ! respiratory malformation id: MONDO:0016061 name: immunodeficiency with factor H anomaly subset: ordo_disease {source="Orphanet:200421"} -xref: ICD10CM:D84.1 {source="Orphanet:200421", source="ORDO:200421/attributed", source="ORDO:200421/ntbt"} -xref: OMIM:609814 {source="MONDO:subClassOf", source="Orphanet:200421", source="ORDO:200421/ntbt"} +xref: ICD10CM:D84.1 {source="Orphanet:200421", source="Orphanet:200421/attributed", source="Orphanet:200421/ntbt"} +xref: OMIM:609814 {source="MONDO:subClassOf", source="Orphanet:200421", source="Orphanet:200421/ntbt"} xref: Orphanet:200421 {source="MONDO:equivalentTo"} xref: UMLS:C0398777 {source="Orphanet:200421", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0012350 ! complement factor H deficiency @@ -316575,7 +316416,7 @@ name: median cleft lip/mandibule def: "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." [Orphanet:2006] subset: ordo_morphological_anomaly {source="Orphanet:2006"} synonym: "median cleft lower facial stage" EXACT [Orphanet:2006] -xref: ICD10CM:Q36.1 {source="ORDO:2006/ntbt", source="Orphanet:2006"} +xref: ICD10CM:Q36.1 {source="Orphanet:2006", source="Orphanet:2006/ntbt"} xref: Orphanet:2006 {source="MONDO:equivalentTo"} xref: SCTID:723383005 {source="MONDO:equivalentTo"} is_a: MONDO:0015412 {source="Orphanet:2006"} ! median facial cleft @@ -316595,23 +316436,23 @@ synonym: "multiple hamartoma syndrome" EXACT [DOID:6457, NCIT:C3076, Orphanet:20 synonym: "PTEN hamartoma syndrome" EXACT EXCLUDE [NCIT:C3076] xref: DOID:6457 {source="MONDO:equivalentTo"} xref: GARD:0006202 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q85.8 {source="ORDO:201/attributed", source="ORDO:201/ntbt", source="Orphanet:201"} -xref: MedDRA:10051906 {source="ORDO:201/e", source="Orphanet:201"} -xref: MESH:D006223 {source="DOID:6457", source="MONDO:equivalentTo", source="ORDO:201/e", source="Orphanet:201"} +xref: ICD10CM:Q85.8 {source="Orphanet:201/attributed", source="Orphanet:201/ntbt", source="Orphanet:201"} +xref: MedDRA:10051906 {source="Orphanet:201/e", source="Orphanet:201"} +xref: MESH:D006223 {source="DOID:6457", source="Orphanet:201/e", source="MONDO:equivalentTo", source="Orphanet:201"} xref: NCIT:C3076 {source="DOID:6457", source="MONDO:equivalentTo"} xref: NCIT:C8419 {source="DOID:6457", source="MONDO:relatedTo"} -xref: OMIM:158350 {source="DOID:6457", source="MONDO:superClassOf", source="ORDO:201/e", source="Orphanet:201"} -xref: OMIM:612359 {source="DOID:6457", source="MONDO:superClassOf", source="ORDO:201/btnt", source="Orphanet:201"} -xref: OMIM:615106 {source="DOID:6457", source="MONDO:superClassOf", source="ORDO:201/btnt", source="Orphanet:201"} -xref: OMIM:615107 {source="DOID:6457", source="MONDO:superClassOf", source="ORDO:201/btnt", source="Orphanet:201"} -xref: OMIM:615108 {source="DOID:6457", source="MONDO:superClassOf", source="ORDO:201/btnt", source="Orphanet:201"} -xref: OMIM:615109 {source="DOID:6457", source="MONDO:superClassOf", source="ORDO:201/btnt", source="Orphanet:201"} -xref: OMIM:616858 {source="MONDO:superClassOf", source="ORDO:201/btnt", source="Orphanet:201"} +xref: OMIM:158350 {source="DOID:6457", source="Orphanet:201/e", source="MONDO:superClassOf", source="Orphanet:201"} +xref: OMIM:612359 {source="DOID:6457", source="MONDO:superClassOf", source="Orphanet:201/btnt", source="Orphanet:201"} +xref: OMIM:615106 {source="DOID:6457", source="MONDO:superClassOf", source="Orphanet:201/btnt", source="Orphanet:201"} +xref: OMIM:615107 {source="DOID:6457", source="MONDO:superClassOf", source="Orphanet:201/btnt", source="Orphanet:201"} +xref: OMIM:615108 {source="DOID:6457", source="MONDO:superClassOf", source="Orphanet:201/btnt", source="Orphanet:201"} +xref: OMIM:615109 {source="DOID:6457", source="MONDO:superClassOf", source="Orphanet:201/btnt", source="Orphanet:201"} +xref: OMIM:616858 {source="MONDO:superClassOf", source="Orphanet:201/btnt", source="Orphanet:201"} xref: OMIMPS:158350 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:201 {source="DOID:6457", source="MONDO:equivalentTo"} xref: SCTID:58037000 {source="DOID:6457", source="MONDO:equivalentTo"} xref: SCTID:67944007 {source="DOID:6457"} -xref: UMLS:C0018553 {source="DOID:6457", source="NCIT:C3076", source="MONDO:equivalentTo", source="ORDO:201/e", source="Orphanet:201"} +xref: UMLS:C0018553 {source="DOID:6457", source="Orphanet:201/e", source="NCIT:C3076", source="MONDO:equivalentTo", source="Orphanet:201"} xref: UMLS:C0391826 {source="DOID:6457", source="MONDO:relatedTo"} is_a: MONDO:0000426 {source="DOID:6457", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015185 {source="Orphanet:201"} ! intestinal polyposis syndrome @@ -316632,17 +316473,17 @@ synonym: "palatoschisis" EXACT [DOID:674] synonym: "uranostaphyloschisis" EXACT [DOID:674] xref: DOID:674 {source="MONDO:equivalentTo"} xref: ICD10CM:Q35 {source="DOID:674"} -xref: ICD10CM:Q35.1 {source="Orphanet:2014", source="MONDO:superClassOf", source="ORDO:2014/btnt"} -xref: ICD10CM:Q35.3 {source="Orphanet:2014", source="MONDO:superClassOf", source="ORDO:2014/btnt"} -xref: ICD10CM:Q35.5 {source="Orphanet:2014", source="ORDO:2014/btnt"} -xref: ICD10CM:Q35.7 {source="Orphanet:2014", source="ORDO:2014/btnt"} -xref: ICD10CM:Q35.9 {source="Orphanet:2014", source="ORDO:2014/btnt", source="DOID:674"} +xref: ICD10CM:Q35.1 {source="Orphanet:2014", source="Orphanet:2014/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q35.3 {source="Orphanet:2014", source="Orphanet:2014/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q35.5 {source="Orphanet:2014", source="Orphanet:2014/btnt"} +xref: ICD10CM:Q35.7 {source="Orphanet:2014", source="Orphanet:2014/btnt"} +xref: ICD10CM:Q35.9 {source="Orphanet:2014", source="Orphanet:2014/btnt", source="DOID:674"} xref: ICD9:749.0 {source="DOID:674"} xref: ICD9:749.00 {source="DOID:674"} -xref: MedDRA:10009269 {source="Orphanet:2014", source="ORDO:2014/e"} -xref: MESH:D002972 {source="Orphanet:2014", source="ORDO:2014/e", source="MONDO:equivalentTo", source="DOID:674"} +xref: MedDRA:10009269 {source="Orphanet:2014", source="Orphanet:2014/e"} +xref: MESH:D002972 {source="Orphanet:2014", source="MONDO:equivalentTo", source="Orphanet:2014/e", source="DOID:674"} xref: NCIT:C87069 {source="MONDO:equivalentTo", source="DOID:674"} -xref: OMIM:119540 {source="Orphanet:2014", source="ORDO:2014/e", source="MONDO:superClassOf"} +xref: OMIM:119540 {source="Orphanet:2014", source="MONDO:superClassOf", source="Orphanet:2014/e"} xref: Orphanet:2014 {source="MONDO:equivalentTo"} xref: Orphanet:99772 {source="MONDO:superClassOf", source="DOID:674"} xref: SCTID:156940009 {source="DOID:674"} @@ -316652,7 +316493,7 @@ xref: SCTID:253986002 {source="DOID:674"} xref: SCTID:268196005 {source="DOID:674"} xref: SCTID:63567004 {source="MONDO:equivalentTo"} xref: SCTID:87979003 {source="DOID:674"} -xref: UMLS:C0008925 {source="Orphanet:2014", source="ORDO:2014/e", source="MONDO:equivalentTo", source="NCIT:C87069", source="DOID:674"} +xref: UMLS:C0008925 {source="Orphanet:2014", source="MONDO:equivalentTo", source="Orphanet:2014/e", source="NCIT:C87069", source="DOID:674"} is_a: MONDO:0000358 {source="DOID:674", source="linkedlifedata", source="linkedlifedata/inferred"} ! orofacial cleft is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton @@ -316666,7 +316507,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2015"} synonym: "cleft palate short stature vertebral anomalies" RELATED [GARD:0001392] synonym: "Mathieu-De Broca-Bony syndrome" EXACT [GARD:0001392, Orphanet:2015] xref: GARD:0001392 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2015", source="ORDO:2015/attributed", source="ORDO:2015/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2015/attributed", source="Orphanet:2015/ntbt", source="Orphanet:2015"} xref: Orphanet:2015 {source="MONDO:equivalentTo", source="GARD:0001392"} xref: SCTID:719466009 {source="MONDO:equivalentTo"} xref: UMLS:CN200784 {source="MONDO:equivalentTo"} @@ -316687,13 +316528,13 @@ synonym: "cleft sternum" EXACT [Orphanet:2017] synonym: "congenital sternal cleft" RELATED [GARD:0005012] synonym: "sternum bifidum" EXACT [Orphanet:2017] xref: GARD:0005012 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q76.7 {source="ORDO:2017/ntbt", source="Orphanet:2017"} +xref: ICD10CM:Q76.7 {source="Orphanet:2017", source="Orphanet:2017/ntbt"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537489 {source="ORDO:2017/e", source="MONDO:equivalentTo", source="Orphanet:2017"} +xref: MESH:C537489 {source="MONDO:equivalentTo", source="Orphanet:2017", source="Orphanet:2017/e"} xref: Orphanet:2017 {source="MONDO:equivalentTo"} xref: SCTID:54008006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265696 {source="ORDO:2017/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2017"} -xref: UMLS:C2931507 {source="ORDO:2017/e", source="MONDO:equivalentTo", source="Orphanet:2017"} +xref: UMLS:C0265696 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2017", source="Orphanet:2017/e"} +xref: UMLS:C2931507 {source="MONDO:equivalentTo", source="Orphanet:2017", source="Orphanet:2017/e"} is_a: MONDO:0015879 {source="Orphanet:2017"} ! non-syndromic diaphragmatic or thoracic malformation is_a: MONDO:0015929 {source="Orphanet:2017"} ! thoracic malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft xsd:anyURI {source="GARD:0005012"} @@ -316711,7 +316552,7 @@ xref: GARD:0001561 {source="MONDO:equivalentTo"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:202 {source="MONDO:equivalentTo"} xref: SCTID:278098005 {source="MONDO:equivalentTo"} -xref: UMLS:C0432348 {source="Orphanet:202", source="MONDO:equivalentTo", source="ORDO:202/e"} +xref: UMLS:C0432348 {source="Orphanet:202", source="MONDO:equivalentTo", source="Orphanet:202/e"} is_a: MONDO:0019282 {source="Orphanet:202"} ! syndromic hair shaft abnormality property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome xsd:anyURI {source="GARD:0001561"} @@ -316723,14 +316564,14 @@ subset: gard_rare {source="GARD:0002321"} subset: ordo_disease {source="Orphanet:2021"} xref: DOID:0060465 {source="MONDO:equivalentTo"} xref: GARD:0002321 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:2021/attributed", source="ORDO:2021/ntbt", source="Orphanet:2021"} +xref: ICD10CM:Q77.7 {source="Orphanet:2021/attributed", source="Orphanet:2021/ntbt", source="Orphanet:2021"} xref: MESH:C562524 {source="DOID:0060465", source="MONDO:equivalentTo"} -xref: OMIM:228520 {source="DOID:0060465", source="MONDO:superClassOf", source="Orphanet:2021", source="ORDO:2021/e"} -xref: OMIM:614524 {source="DOID:0060465", source="MONDO:superClassOf", source="ORDO:2021/btnt", source="Orphanet:2021"} +xref: OMIM:228520 {source="Orphanet:2021/e", source="DOID:0060465", source="MONDO:superClassOf", source="Orphanet:2021"} +xref: OMIM:614524 {source="DOID:0060465", source="MONDO:superClassOf", source="Orphanet:2021/btnt", source="Orphanet:2021"} xref: OMIMPS:228520 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="DOID:0060465", source="MONDO:equivalentTo"} xref: SCTID:17144009 {source="DOID:0060465", source="MONDO:equivalentTo"} -xref: UMLS:C0265282 {source="DOID:0060465", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2021", source="ORDO:2021/e"} +xref: UMLS:C0265282 {source="Orphanet:2021/e", source="DOID:0060465", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2021"} is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0005516 {source="DOID:0060465", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019697 {source="Orphanet:2021"} ! mesomelic and rhizo-mesomelic dysplasia @@ -316747,16 +316588,16 @@ synonym: "autosomal dominant gingival hyperplasia" EXACT [Orphanet:2024] synonym: "hereditary gingival fibromatosis" EXACT [DOID:0060466] synonym: "hereditary gingival hyperplasia" EXACT [DOID:0060466, Orphanet:2024] xref: DOID:0060466 {source="MONDO:equivalentTo"} -xref: ICD10CM:K06.1 {source="Orphanet:2024", source="ORDO:2024/attributed", source="ORDO:2024/ntbt"} +xref: ICD10CM:K06.1 {source="Orphanet:2024/attributed", source="Orphanet:2024/ntbt", source="Orphanet:2024"} xref: MESH:C562884 {source="DOID:0060466"} -xref: OMIM:135300 {source="ORDO:2024/e", source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf"} -xref: OMIM:605544 {source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf", source="ORDO:2024/btnt"} -xref: OMIM:609955 {source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf", source="ORDO:2024/btnt"} -xref: OMIM:611010 {source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf", source="ORDO:2024/btnt"} +xref: OMIM:135300 {source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf", source="Orphanet:2024/e"} +xref: OMIM:605544 {source="Orphanet:2024/btnt", source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf"} +xref: OMIM:609955 {source="Orphanet:2024/btnt", source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf"} +xref: OMIM:611010 {source="Orphanet:2024/btnt", source="Orphanet:2024", source="DOID:0060466", source="MONDO:superClassOf"} xref: OMIMPS:135300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2024 {source="DOID:0060466", source="MONDO:equivalentTo"} xref: SCTID:109620006 {source="DOID:0060466", source="MONDO:equivalentTo"} -xref: UMLS:C0399440 {source="ORDO:2024/e", source="Orphanet:2024", source="DOID:0060466", source="MONDO:equivalentTo"} +xref: UMLS:C0399440 {source="Orphanet:2024", source="DOID:0060466", source="MONDO:equivalentTo", source="Orphanet:2024/e"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder is_a: MONDO:0002507 {source="DOID:0060466"} ! gingival overgrowth is_a: MONDO:0021147 {source="Orphanet:2024", source="Orphanet:2024/inferred"} ! disorder of development or morphogenesis @@ -316772,14 +316613,14 @@ synonym: "mesenchymal dysplasia" EXACT [NCIT:C98297] synonym: "Molluscum fibrosum" EXACT [NCIT:C98297] synonym: "Murray-Puretic-Drescher syndrome" EXACT [Orphanet:2028] synonym: "Puretic syndrome" EXACT [Orphanet:2028] -xref: ICD10CM:M72.8 {source="ORDO:2028/attributed", source="ORDO:2028/ntbt", source="Orphanet:2028"} +xref: ICD10CM:M72.8 {source="Orphanet:2028", source="Orphanet:2028/attributed", source="Orphanet:2028/ntbt"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D057770 {source="ORDO:2028/e", source="Orphanet:2028"} +xref: MESH:D057770 {source="Orphanet:2028", source="Orphanet:2028/e"} xref: NCIT:C98297 {source="MONDO:equivalentTo"} -xref: OMIM:228600 {source="MONDO:subClassOf", source="ORDO:2028/ntbt", source="Orphanet:2028"} +xref: OMIM:228600 {source="MONDO:subClassOf", source="Orphanet:2028", source="Orphanet:2028/ntbt"} xref: Orphanet:2028 {source="MONDO:equivalentTo"} xref: SCTID:238861002 {source="MONDO:equivalentTo"} -xref: UMLS:C0406578 {source="ORDO:2028/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2028"} +xref: UMLS:C0406578 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2028", source="Orphanet:2028/e"} xref: UMLS:C2745948 {source="MONDO:subClassOf", source="NCIT:C98297"} is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0006424 {source="Orphanet:2028"} ! soft tissue neoplasm @@ -316837,23 +316678,23 @@ subset: ordo_group_of_disorders {source="Orphanet:2034"} synonym: "disease due to superfamily Filarioidea" EXACT [DOID:1080] xref: DOID:1080 {source="MONDO:equivalentTo"} xref: ICD10CM:B74 {source="MONDO:equivalentTo", source="DOID:1080"} -xref: ICD10CM:B74.0 {source="Orphanet:2034", source="ORDO:2034/e"} -xref: ICD10CM:B74.1 {source="Orphanet:2034", source="ORDO:2034/e"} -xref: ICD10CM:B74.2 {source="Orphanet:2034", source="ORDO:2034/e"} -xref: ICD10CM:B74.3 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:superClassOf"} -xref: ICD10CM:B74.4 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:superClassOf"} -xref: ICD10CM:B74.8 {source="Orphanet:2034", source="ORDO:2034/e"} -xref: ICD10CM:B74.9 {source="Orphanet:2034", source="ORDO:2034/e", source="DOID:1080"} +xref: ICD10CM:B74.0 {source="Orphanet:2034", source="Orphanet:2034/e"} +xref: ICD10CM:B74.1 {source="Orphanet:2034", source="Orphanet:2034/e"} +xref: ICD10CM:B74.2 {source="Orphanet:2034", source="Orphanet:2034/e"} +xref: ICD10CM:B74.3 {source="Orphanet:2034", source="Orphanet:2034/e", source="MONDO:superClassOf"} +xref: ICD10CM:B74.4 {source="Orphanet:2034", source="Orphanet:2034/e", source="MONDO:superClassOf"} +xref: ICD10CM:B74.8 {source="Orphanet:2034", source="Orphanet:2034/e"} +xref: ICD10CM:B74.9 {source="Orphanet:2034", source="Orphanet:2034/e", source="DOID:1080"} xref: ICD9:125.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:1080"} -xref: MedDRA:10016674 {source="Orphanet:2034", source="ORDO:2034/e"} -xref: MESH:D005368 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:equivalentTo", source="DOID:1080"} +xref: MedDRA:10016674 {source="Orphanet:2034", source="Orphanet:2034/e"} +xref: MESH:D005368 {source="Orphanet:2034", source="MONDO:equivalentTo", source="Orphanet:2034/e", source="DOID:1080"} xref: NCIT:C34611 {source="MONDO:equivalentTo", source="DOID:1080"} xref: Orphanet:2034 {source="MONDO:equivalentTo"} xref: SCTID:105706003 {source="MONDO:equivalentTo", source="DOID:1080"} xref: SCTID:187161002 {source="DOID:1080"} xref: SCTID:187532008 {source="DOID:1080"} xref: SCTID:50342004 {source="DOID:1080"} -xref: UMLS:C0016085 {source="Orphanet:2034", source="ORDO:2034/e", source="MONDO:equivalentTo", source="NCIT:C34611", source="DOID:1080"} +xref: UMLS:C0016085 {source="Orphanet:2034", source="MONDO:equivalentTo", source="Orphanet:2034/e", source="NCIT:C34611", source="DOID:1080"} is_a: MONDO:0004664 {source="DOID:1080", source="ICD10CM:B74", source="MESH:D005368/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:1080/inferred", source="MESH:D005368/inferred", source="MONDO:Redundant", source="NCIT:C34611", source="Orphanet:2034", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare @@ -316875,10 +316716,10 @@ synonym: "aortopulmonary fistula" RELATED [GARD:0000738] synonym: "congenital aortopulmonary artery fistula" EXACT [Orphanet:2037] synonym: "congenital aortopulmonary septal defect" EXACT [Orphanet:2037] xref: GARD:0000738 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.4 {source="ORDO:2037/e", source="Orphanet:2037"} -xref: MESH:C537782 {source="ORDO:2037/e", source="Orphanet:2037", source="MONDO:equivalentTo"} +xref: ICD10CM:Q21.4 {source="Orphanet:2037", source="Orphanet:2037/e"} +xref: MESH:C537782 {source="Orphanet:2037", source="MONDO:equivalentTo", source="Orphanet:2037/e"} xref: Orphanet:2037 {source="MONDO:equivalentTo"} -xref: UMLS:C2931610 {source="ORDO:2037/e", source="Orphanet:2037", source="MONDO:equivalentTo"} +xref: UMLS:C2931610 {source="Orphanet:2037", source="MONDO:equivalentTo", source="Orphanet:2037/e"} is_a: MONDO:0016581 {source="Orphanet:2037"} ! conotruncal heart malformations relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -316887,7 +316728,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0016078 name: congenital systemic arteriovenous fistula subset: ordo_morphological_anomaly {source="Orphanet:2039"} -xref: ICD10CM:Q27.3 {source="ORDO:2039/ntbt", source="Orphanet:2039"} +xref: ICD10CM:Q27.3 {source="Orphanet:2039", source="Orphanet:2039/ntbt"} xref: Orphanet:2039 {source="MONDO:equivalentTo"} is_a: MONDO:0020296 {source="Orphanet:2039"} ! congenital arteriovenous fistula @@ -316897,14 +316738,14 @@ name: sporadic Creutzfeldt-Jakob disease def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD)." [Orphanet:204] subset: ordo_disease {source="Orphanet:204"} synonym: "sporadic CJD" EXACT [Orphanet:204] -xref: ICD10CM:A81.0 {source="Orphanet:204", source="ORDO:204/ntbt"} +xref: ICD10CM:A81.0 {source="Orphanet:204/ntbt", source="Orphanet:204"} xref: ICD9:046.19 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10011384 {source="Orphanet:204", source="ORDO:204/e"} -xref: MESH:D007562 {source="MONDO:subClassOf", source="Orphanet:204", source="ORDO:204/e"} -xref: OMIM:123400 {source="MONDO:subClassOf", source="Orphanet:204", source="ORDO:204/ntbt"} +xref: MedDRA:10011384 {source="Orphanet:204", source="Orphanet:204/e"} +xref: MESH:D007562 {source="MONDO:subClassOf", source="Orphanet:204", source="Orphanet:204/e"} +xref: OMIM:123400 {source="MONDO:subClassOf", source="Orphanet:204/ntbt", source="Orphanet:204"} xref: Orphanet:204 {source="MONDO:equivalentTo"} xref: SCTID:713060000 {source="MONDO:equivalentTo"} -xref: UMLS:C0022336 {source="Orphanet:204", source="MONDO:notFoundInDiseaseSubset", source="ORDO:204/e"} +xref: UMLS:C0022336 {source="Orphanet:204", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:204/e"} is_a: MONDO:0007403 ! inherited Creutzfeldt-Jakob disease property_value: confidence "3.0" xsd:double @@ -316915,7 +316756,7 @@ def: "Congenital respiratory-biliary fistula (RBF) is a rare developmental defec subset: gard_rare {source="GARD:0001475"} subset: ordo_morphological_anomaly {source="Orphanet:2040"} xref: GARD:0001475 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q32.4 {source="ORDO:2040/ntbt", source="Orphanet:2040"} +xref: ICD10CM:Q32.4 {source="Orphanet:2040/ntbt", source="Orphanet:2040"} xref: Orphanet:2040 {source="MONDO:equivalentTo"} xref: SCTID:719452004 {source="MONDO:equivalentTo"} is_a: MONDO:0015213 {source="Orphanet:2040"} ! non-syndromic visceral malformation @@ -316931,17 +316772,17 @@ subset: ordo_morphological_anomaly {source="Orphanet:2041"} synonym: "Coronaro-cardiac fistula" EXACT [Orphanet:2041] synonym: "coronary arterial malformations" EXACT [Orphanet:2041] xref: GARD:0001533 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q24.5 {source="Orphanet:2041", source="ORDO:2041/ntbt"} -xref: MedDRA:10069441 {source="Orphanet:2041", source="ORDO:2041/e"} +xref: ICD10CM:Q24.5 {source="Orphanet:2041/ntbt", source="Orphanet:2041"} +xref: MedDRA:10069441 {source="Orphanet:2041/e", source="Orphanet:2041"} xref: Orphanet:2041 {source="MONDO:equivalentTo"} -xref: UMLS:C0265898 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2041", source="ORDO:2041/e"} +xref: UMLS:C0265898 {source="Orphanet:2041/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2041"} is_a: MONDO:0015203 {source="Orphanet:2041"} ! coronary artery congenital malformation [Term] id: MONDO:0016082 name: obsolete tracheo-esophageal fistula-hypospadias syndrome comment: Obsolete in Orphanet -xref: ICD10CM:Q87.8 {source="ORDO:2042/attributed", source="ORDO:2042/ntbt", source="Orphanet:2042"} +xref: ICD10CM:Q87.8 {source="Orphanet:2042/attributed", source="Orphanet:2042/ntbt", source="Orphanet:2042"} xref: Orphanet:2042 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226834 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -316956,10 +316797,10 @@ subset: ordo_disease {source="Orphanet:2045"} synonym: "familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity" RELATED [GARD:0002346] synonym: "leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome" EXACT [Orphanet:2045] xref: GARD:0002346 {source="MONDO:equivalentTo"} -xref: ICD10CM:L60.8 {source="Orphanet:2045", source="ORDO:2045/attributed", source="ORDO:2045/ntbt"} -xref: MESH:C537065 {source="Orphanet:2045", source="ORDO:2045/e", source="MONDO:equivalentTo"} +xref: ICD10CM:L60.8 {source="Orphanet:2045", source="Orphanet:2045/attributed", source="Orphanet:2045/ntbt"} +xref: MESH:C537065 {source="Orphanet:2045", source="MONDO:equivalentTo", source="Orphanet:2045/e"} xref: Orphanet:2045 {source="MONDO:equivalentTo"} -xref: UMLS:C2931411 {source="Orphanet:2045", source="ORDO:2045/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931411 {source="Orphanet:2045", source="MONDO:equivalentTo", source="Orphanet:2045/e"} is_a: MONDO:0019285 {source="Orphanet:2045"} ! syndromic nail anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome xsd:anyURI {source="GARD:0002346"} @@ -316978,14 +316819,14 @@ synonym: "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome" EXAC synonym: "Cole Carpenter syndrome" RELATED [GARD:0001425] xref: DOID:0060438 {source="MONDO:equivalentTo"} xref: GARD:0001425 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="ORDO:2050/attributed", source="ORDO:2050/ntbt", source="Orphanet:2050"} -xref: MESH:C535963 {source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438", source="ORDO:2050/e"} +xref: ICD10CM:Q78.0 {source="MONDO:subClassOf", source="Orphanet:2050", source="Orphanet:2050/attributed", source="Orphanet:2050/ntbt"} +xref: MESH:C535963 {source="Orphanet:2050/e", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438"} xref: NCIT:C130985 {source="MONDO:equivalentTo"} -xref: OMIM:112240 {source="MONDO:superClassOf", source="Orphanet:2050", source="DOID:0060438", source="ORDO:2050/e"} -xref: OMIM:616294 {source="ORDO:2050/btnt", source="MONDO:superClassOf", source="Orphanet:2050", source="DOID:0060438"} +xref: OMIM:112240 {source="Orphanet:2050/e", source="MONDO:superClassOf", source="Orphanet:2050", source="DOID:0060438"} +xref: OMIM:616294 {source="MONDO:superClassOf", source="Orphanet:2050", source="DOID:0060438", source="Orphanet:2050/btnt"} xref: OMIMPS:112240 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2050 {source="MONDO:equivalentTo", source="DOID:0060438"} -xref: UMLS:C1862178 {source="NCIT:C130985", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438", source="ORDO:2050/e"} +xref: UMLS:C1862178 {source="Orphanet:2050/e", source="NCIT:C130985", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438"} is_a: MONDO:0002254 {source="NCIT:C130985"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:2050", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018230 {source="Orphanet:2050", source="indirect"} ! primary bone dysplasia @@ -317012,7 +316853,7 @@ synonym: "osteochondritis of tarsal/metatarsal bone" EXACT [GARD:0006842] synonym: "Osteochondrosis of the tarsal bone" EXACT [GARD:0006842, Orphanet:2054] xref: DOID:11760 {source="MONDO:equivalentTo"} xref: GARD:0006842 {source="MONDO:equivalentTo"} -xref: ICD10CM:M93.2 {source="ORDO:2054/ntbt", source="Orphanet:2054"} +xref: ICD10CM:M93.2 {source="Orphanet:2054/ntbt", source="Orphanet:2054"} xref: ICD9:732.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:11760"} xref: Orphanet:2054 {source="GARD:0006842", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"} xref: SCTID:203392007 {source="MONDO:equivalentTo", source="DOID:11760"} @@ -317031,7 +316872,7 @@ name: progressive non-infectious anterior vertebral fusion def: "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." [Orphanet:2062] subset: ordo_malformation_syndrome {source="Orphanet:2062"} synonym: "Copenhagen syndrome" EXACT [Orphanet:2062] -xref: ICD10CM:Q87.8 {source="ORDO:2062/attributed", source="ORDO:2062/ntbt", source="Orphanet:2062"} +xref: ICD10CM:Q87.8 {source="Orphanet:2062/attributed", source="Orphanet:2062/ntbt", source="Orphanet:2062"} xref: Orphanet:2062 {source="MONDO:equivalentTo"} xref: SCTID:719268008 {source="MONDO:equivalentTo"} xref: UMLS:C4304839 {source="MONDO:equivalentTo"} @@ -317049,7 +316890,7 @@ synonym: "HPRT deficiency" EXACT [Orphanet:206428] synonym: "HPRT1 deficiency" EXACT [Orphanet:206428] synonym: "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency" EXACT [Orphanet:206428] xref: GARD:0002943 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E79.8 {source="Orphanet:206428", source="ORDO:206428/attributed", source="ORDO:206428/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:206428/attributed", source="Orphanet:206428/ntbt", source="Orphanet:206428"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:206428 {source="MONDO:equivalentTo"} xref: SCTID:124275001 {source="MONDO:equivalentTo"} @@ -317065,10 +316906,10 @@ name: infantile Krabbe disease subset: ordo_clinical_subtype {source="Orphanet:206436"} synonym: "Krabbe disease, classic form" EXACT [Orphanet:206436] synonym: "Krabbe disease, early-onset" EXACT [Orphanet:206436] -xref: ICD10CM:E75.2 {source="Orphanet:206436", source="ORDO:206436/attributed", source="ORDO:206436/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:206436", source="Orphanet:206436/attributed", source="Orphanet:206436/ntbt"} xref: Orphanet:206436 {source="MONDO:equivalentTo"} xref: SCTID:238030005 {source="MONDO:equivalentTo"} -xref: UMLS:C0751273 {source="Orphanet:206436", source="ORDO:206436/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751273 {source="Orphanet:206436", source="Orphanet:206436/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0009499 {source="Orphanet:206436"} ! Krabbe disease intersection_of: MONDO:0009499 ! Krabbe disease intersection_of: has_modifier HP:0003593 ! Infantile onset @@ -317078,7 +316919,7 @@ id: MONDO:0016090 name: late-infantile/juvenile Krabbe disease subset: ordo_clinical_subtype {source="Orphanet:206443"} synonym: "Krabbe disease, late-onset" EXACT [Orphanet:206443] -xref: ICD10CM:E75.2 {source="Orphanet:206443", source="ORDO:206443/attributed", source="ORDO:206443/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:206443/attributed", source="Orphanet:206443/ntbt", source="Orphanet:206443"} xref: Orphanet:206443 {source="MONDO:equivalentTo"} xref: SCTID:41142009 {source="MONDO:equivalentTo"} xref: UMLS:C0268252 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206443"} @@ -317093,9 +316934,9 @@ name: adult Krabbe disease def: "A Krabbe disease that occurs in an adult." [MONDO:design_pattern] subset: ordo_clinical_subtype {source="Orphanet:206448"} synonym: "Krabbe disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -xref: ICD10CM:E75.2 {source="Orphanet:206448", source="ORDO:206448/attributed", source="ORDO:206448/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:206448/attributed", source="Orphanet:206448/ntbt", source="Orphanet:206448"} xref: Orphanet:206448 {source="MONDO:equivalentTo"} -xref: UMLS:C0268252 {source="ORDO:206448/e", source="Orphanet:206448", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268252 {source="Orphanet:206448", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206448/e"} xref: UMLS:CN200856 {source="MONDO:equivalentTo"} is_a: MONDO:0009499 {source="MONDO:Redundant", source="Orphanet:206448"} ! Krabbe disease is_a: MONDO:0020143 {source="Orphanet:206448"} ! cerebral lipidosis with dementia @@ -317109,7 +316950,7 @@ def: "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian subset: ordo_disease {source="Orphanet:206470"} synonym: "mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:206470] synonym: "serous cystadenoma of ovary in childhood" EXACT [Orphanet:206470] -xref: ICD10CM:D27 {source="ORDO:206470/ntbt", source="Orphanet:206470"} +xref: ICD10CM:D27 {source="Orphanet:206470", source="Orphanet:206470/ntbt"} xref: Orphanet:206470 {source="MONDO:equivalentTo"} is_a: MONDO:0000646 {source="Orphanet:206470"} ! ovarian benign neoplasm relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare @@ -317140,7 +316981,7 @@ synonym: "ovarian tumor of low malignant potential" EXACT [Orphanet:206473] synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783] xref: EFO:1000140 {source="MONDO:equivalentTo"} xref: GARD:0009363 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:206473/ntbt", source="Orphanet:206473"} +xref: ICD10CM:C56 {source="Orphanet:206473/ntbt", source="Orphanet:206473"} xref: NCIT:C4783 {source="MONDO:equivalentTo"} xref: Orphanet:206473 {source="MONDO:equivalentTo"} xref: SCTID:764791008 {source="MONDO:equivalentTo"} @@ -317158,7 +316999,7 @@ subset: ordo_disease {source="Orphanet:206489"} synonym: "malignant germ cell tumor of the vagina" RELATED [Orphanet:206489] synonym: "vagina malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "vaginal germ cell cancer" EXACT [Orphanet:206489] -xref: ICD10CM:C52 {source="ORDO:206489/ntbt", source="Orphanet:206489"} +xref: ICD10CM:C52 {source="Orphanet:206489/ntbt", source="Orphanet:206489"} xref: Orphanet:206489 {source="MONDO:equivalentTo"} xref: UMLS:CN200860 {source="MONDO:equivalentTo"} is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm @@ -317175,7 +317016,7 @@ synonym: "vagina rhabdomyosarcoma" EXACT [] synonym: "vagina rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "vaginal rhabdomyosarcoma" EXACT [NCIT:C128080] synonym: "vulvovaginal rhabdomyosarcoma" RELATED [Orphanet:206492] -xref: ICD10CM:C52 {source="ORDO:206492/ntbt", source="Orphanet:206492"} +xref: ICD10CM:C52 {source="Orphanet:206492", source="Orphanet:206492/ntbt"} xref: NCIT:C128080 {source="MONDO:equivalentTo"} xref: Orphanet:206492 {source="MONDO:equivalentTo"} xref: SCTID:766759009 {source="MONDO:equivalentTo"} @@ -317195,7 +317036,7 @@ synonym: "ovarian non-dysgerminomatous germ cell tumor" EXACT [NCIT:C102870] synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [NCIT:C102870] synonym: "ovarian Nondysgerminomatous germ cell tumor" EXACT [NCIT:C102870] synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C102870] -xref: ICD10CM:C56 {source="Orphanet:206538", source="ORDO:206538/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:206538/ntbt", source="Orphanet:206538"} xref: NCIT:C102870 {source="MONDO:equivalentTo"} xref: Orphanet:206538 {source="MONDO:equivalentTo"} xref: UMLS:C3640983 {source="MONDO:equivalentTo", source="NCIT:C102870"} @@ -317212,7 +317053,7 @@ id: MONDO:0016097 name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers def: "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." [Orphanet:206546] subset: ordo_disease {source="Orphanet:206546"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206546", source="ORDO:206546/attributed", source="ORDO:206546/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206546", source="Orphanet:206546/attributed", source="Orphanet:206546/ntbt"} xref: Orphanet:206546 {source="MONDO:equivalentTo"} xref: SCTID:765197008 {source="MONDO:equivalentTo"} xref: UMLS:CN200864 {source="MONDO:equivalentTo"} @@ -317232,7 +317073,7 @@ synonym: "IMNM" EXACT ABBREVIATION [Orphanet:206569] synonym: "NAM" EXACT ABBREVIATION [Orphanet:206569] synonym: "necrotizing autoimmune myopathy" RELATED [GARD:0013307] xref: GARD:0013307 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G72.4 {source="Orphanet:206569", source="ORDO:206569/ntbt"} +xref: ICD10CM:G72.4 {source="Orphanet:206569/ntbt", source="Orphanet:206569"} xref: Orphanet:206569 {source="MONDO:equivalentTo"} xref: SCTID:715863001 {source="MONDO:equivalentTo"} xref: UMLS:C3267047 {source="Orphanet:206569", source="MONDO:notFoundInDiseaseSubset"} @@ -317255,7 +317096,7 @@ subset: ordo_disease {source="Orphanet:206575"} synonym: "acquired rippling muscle disease" BROAD [Orphanet:206575] synonym: "immune-mediated rippling muscle disease" EXACT [Orphanet:206575] synonym: "Rmd-MG" EXACT [PMID:14694511] -xref: ICD10CM:G70.8 {source="Orphanet:206575", source="ORDO:206575/ntbt"} +xref: ICD10CM:G70.8 {source="Orphanet:206575/ntbt", source="Orphanet:206575"} xref: Orphanet:206575 {source="MONDO:equivalentTo"} xref: UMLS:CN200870 {source="MONDO:equivalentTo"} is_a: MONDO:0018743 {source="Orphanet:206575"} ! immune-mediated acquired neuromuscular junction disease @@ -317284,7 +317125,7 @@ def: "A subacute progressive symmetric sensorial and/or motor disorder character subset: ordo_disease {source="Orphanet:206594"} synonym: "SIDP" EXACT ABBREVIATION [MONDO:cjm] synonym: "subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:206594] -xref: ICD10CM:G61.8 {source="ORDO:206594/ntbt", source="Orphanet:206594"} +xref: ICD10CM:G61.8 {source="Orphanet:206594/ntbt", source="Orphanet:206594"} xref: Orphanet:206594 {source="MONDO:equivalentTo"} xref: SCTID:277189006 {source="MONDO:equivalentTo"} xref: UMLS:C0456517 {source="MONDO:equivalentTo"} @@ -317341,7 +317182,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206644"} synonym: "progressive muscular dystrophy" EXACT CLINGEN_PREFERRED [] xref: GARD:0012583 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206644", source="ORDO:206644/attributed", source="ORDO:206644/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206644", source="Orphanet:206644/attributed", source="Orphanet:206644/ntbt"} xref: Orphanet:206644 {source="MONDO:equivalentTo"} xref: UMLS:CN241791 {source="MONDO:equivalentTo"} is_a: MONDO:0020121 {source="Orphanet:206644"} ! muscular dystrophy @@ -317358,10 +317199,10 @@ synonym: "myotonia dystrophica" RELATED [GARD:0010419] synonym: "myotonic disease" RELATED [DOID:450] xref: DOID:450 {source="MONDO:equivalentTo"} xref: GARD:0010419 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.1 {source="Orphanet:206647", source="ORDO:206647/attributed", source="ORDO:206647/ntbt", source="DOID:450"} +xref: ICD10CM:G71.1 {source="Orphanet:206647", source="Orphanet:206647/attributed", source="Orphanet:206647/ntbt", source="DOID:450"} xref: ICD9:359.2 {source="DOID:450"} -xref: MedDRA:10068871 {source="Orphanet:206647", source="ORDO:206647/e"} -xref: MESH:D009223 {source="Orphanet:206647", source="ORDO:206647/e", source="MONDO:equivalentTo"} +xref: MedDRA:10068871 {source="Orphanet:206647", source="Orphanet:206647/e"} +xref: MESH:D009223 {source="Orphanet:206647", source="MONDO:equivalentTo", source="Orphanet:206647/e"} xref: MESH:D020967 {source="DOID:450"} xref: NCIT:C84913 {source="DOID:450"} xref: NCIT:C84914 {source="MONDO:equivalentTo"} @@ -317372,7 +317213,7 @@ xref: SCTID:193237003 {source="DOID:450"} xref: SCTID:193240003 {source="DOID:450"} xref: SCTID:240104008 {source="MONDO:equivalentTo"} xref: SCTID:267713009 {source="DOID:450"} -xref: UMLS:C0027126 {source="Orphanet:206647", source="ORDO:206647/e", source="MONDO:equivalentTo", source="NCIT:C84914"} +xref: UMLS:C0027126 {source="Orphanet:206647", source="MONDO:equivalentTo", source="NCIT:C84914", source="Orphanet:206647/e"} xref: UMLS:C0410226 {source="Orphanet:206647"} xref: UMLS:C0553604 {source="MONDO:notFoundInDiseaseSubset", source="DOID:450"} is_a: MONDO:0016106 {source="Orphanet:206647"} ! progressive muscular dystrophy @@ -317389,7 +317230,7 @@ def: "Autosomal dominant form of distal myopathy." [MONDO:patterns/autosomal_dom subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206650"} synonym: "distal myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:206650/attributed", source="ORDO:206650/ntbt", source="Orphanet:206650"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206650", source="Orphanet:206650/attributed", source="Orphanet:206650/ntbt"} xref: Orphanet:206650 {source="MONDO:equivalentTo"} xref: UMLS:CN229018 {source="MONDO:equivalentTo"} is_a: MONDO:0018949 {source="MONDO:Redundant", source="Orphanet:206650"} ! distal myopathy @@ -317403,7 +317244,7 @@ def: "Autosomal recessive form of distal myopathy." [MONDO:patterns/autosomal_re subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206653"} synonym: "distal myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:206653/attributed", source="ORDO:206653/ntbt", source="Orphanet:206653"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:206653/attributed", source="Orphanet:206653/ntbt", source="Orphanet:206653"} xref: Orphanet:206653 {source="MONDO:equivalentTo"} xref: UMLS:CN229019 {source="MONDO:equivalentTo"} is_a: MONDO:0018949 {source="MONDO:Redundant", source="Orphanet:206653"} ! distal myopathy @@ -317440,7 +317281,7 @@ subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:206662"} synonym: "cytoplasmic body myopathy" RELATED [GARD:0001658] xref: GARD:0001658 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="ORDO:206662/attributed", source="ORDO:206662/ntbt", source="Orphanet:206662"} +xref: ICD10CM:G71.8 {source="Orphanet:206662/attributed", source="Orphanet:206662/ntbt", source="Orphanet:206662"} xref: Orphanet:206662 {source="MONDO:equivalentTo"} is_a: MONDO:0016110 {source="Orphanet:206662"} ! non-dystrophic myopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy xsd:anyURI {source="GARD:0001658"} @@ -317454,7 +317295,7 @@ synonym: "bulbospinal muscular atrophy" EXACT [https://www.mda.org/disease/spina synonym: "SBMA" EXACT ABBREVIATION [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] synonym: "spinal and bulbal muscular atrophy" EXACT [Wikipedia:Spinal_and_bulbar_muscular_atrophy] synonym: "spinal-bulbar muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206701", source="ORDO:206701/attributed", source="ORDO:206701/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206701/attributed", source="Orphanet:206701/ntbt", source="Orphanet:206701"} xref: Orphanet:206701 {source="MONDO:equivalentTo"} xref: SCTID:230253001 {source="MONDO:equivalentTo"} xref: UMLS:C0393547 {source="Orphanet:206701", source="MONDO:notFoundInDiseaseSubset"} @@ -317470,7 +317311,7 @@ subset: ordo_group_of_disorders {source="Orphanet:206704"} synonym: "bulbospinal muscular atrophy of childhood" EXACT [MONDO:patterns/childhood] synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206704", source="ORDO:206704/attributed", source="ORDO:206704/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206704/attributed", source="Orphanet:206704/ntbt", source="Orphanet:206704"} xref: Orphanet:206704 {source="MONDO:equivalentTo"} is_a: MONDO:0016113 {source="MONDO:Redundant", source="Orphanet:206704"} ! bulbospinal muscular atrophy intersection_of: MONDO:0016113 ! bulbospinal muscular atrophy @@ -317485,7 +317326,7 @@ subset: ordo_group_of_disorders {source="Orphanet:206707"} synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707] synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:206707/attributed", source="ORDO:206707/ntbt", source="Orphanet:206707"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206707", source="Orphanet:206707/attributed", source="Orphanet:206707/ntbt"} xref: Orphanet:206707 {source="MONDO:equivalentTo"} is_a: MONDO:0016113 {source="MONDO:Redundant", source="Orphanet:206707"} ! bulbospinal muscular atrophy intersection_of: MONDO:0016113 ! bulbospinal muscular atrophy @@ -317496,7 +317337,7 @@ id: MONDO:0016116 name: generalized bulbospinal muscular atrophy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206710"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206710", source="ORDO:206710/attributed", source="ORDO:206710/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:206710", source="Orphanet:206710/attributed", source="Orphanet:206710/ntbt"} xref: Orphanet:206710 {source="MONDO:equivalentTo"} is_a: MONDO:0016113 {source="Orphanet:206710"} ! bulbospinal muscular atrophy @@ -317518,7 +317359,7 @@ name: muscular glycogenosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206959"} synonym: "glycogen storage myopathy" EXACT [Orphanet:206959] -xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="ORDO:206959/attributed", source="ORDO:206959/ntbt", source="Orphanet:206959"} +xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:206959", source="Orphanet:206959/attributed", source="Orphanet:206959/ntbt"} xref: Orphanet:206959 {source="MONDO:equivalentTo"} is_a: MONDO:0020123 {source="Orphanet:206959"} ! metabolic myopathy @@ -317533,11 +317374,11 @@ id: MONDO:0016120 name: myotonic syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206970"} -xref: ICD10CM:G71.1 {source="ORDO:206970/e", source="ORDO:206970/specific", source="Orphanet:206970"} -xref: MedDRA:10028658 {source="ORDO:206970/e", source="Orphanet:206970"} -xref: MESH:D020967 {source="MONDO:equivalentTo", source="ORDO:206970/e", source="Orphanet:206970"} +xref: ICD10CM:G71.1 {source="Orphanet:206970/specific", source="Orphanet:206970/e", source="Orphanet:206970"} +xref: MedDRA:10028658 {source="Orphanet:206970/e", source="Orphanet:206970"} +xref: MESH:D020967 {source="Orphanet:206970/e", source="MONDO:equivalentTo", source="Orphanet:206970"} xref: Orphanet:206970 {source="MONDO:equivalentTo"} -xref: UMLS:C0553604 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:206970/e", source="Orphanet:206970"} +xref: UMLS:C0553604 {source="Orphanet:206970/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206970"} is_a: MONDO:0005218 {source="MESH:D020967"} ! muscular disorder is_a: MONDO:0020120 {source="Orphanet:206970"} ! skeletal muscle disorder intersection_of: MONDO:0002254 ! syndromic disease @@ -317548,7 +317389,7 @@ id: MONDO:0016121 name: congenital myotonia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206973"} -xref: ICD10CM:G71.1 {source="ORDO:206973/inclusion", source="ORDO:206973/ntbt", source="Orphanet:206973"} +xref: ICD10CM:G71.1 {source="Orphanet:206973/ntbt", source="Orphanet:206973/inclusion", source="Orphanet:206973"} xref: Orphanet:206973 {source="MONDO:equivalentTo"} xref: UMLS:C0027127 {source="MONDO:superClassOf", source="Orphanet:206973"} is_a: MONDO:0016120 {source="Orphanet:206973"} ! myotonic syndrome @@ -317564,12 +317405,12 @@ subset: ordo_group_of_disorders {source="Orphanet:206976"} synonym: "periodic paralysis" EXACT [MONDO:ambiguous] synonym: "periodic paralysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003768 {source="MONDO:otherHierarchy"} -xref: ICD10CM:G72.3 {source="ORDO:206976/e", source="Orphanet:206976"} -xref: MedDRA:10016208 {source="ORDO:206976/e", source="Orphanet:206976"} -xref: MESH:D010245 {source="ORDO:206976/e", source="MONDO:relatedTo", source="Orphanet:206976"} +xref: ICD10CM:G72.3 {source="Orphanet:206976", source="Orphanet:206976/e"} +xref: MedDRA:10016208 {source="Orphanet:206976", source="Orphanet:206976/e"} +xref: MESH:D010245 {source="MONDO:relatedTo", source="Orphanet:206976", source="Orphanet:206976/e"} xref: Orphanet:206976 {source="MONDO:equivalentTo"} -xref: UMLS:C0030443 {source="ORDO:206976/e", source="Orphanet:206976", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1279412 {source="ORDO:206976/e", source="Orphanet:206976", source="MONDO:equivalentTo"} +xref: UMLS:C0030443 {source="Orphanet:206976", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206976/e"} +xref: UMLS:C1279412 {source="Orphanet:206976", source="MONDO:equivalentTo", source="Orphanet:206976/e"} xref: UMLS:CN231077 {source="MONDO:equivalentTo"} is_a: MONDO:0020120 {source="Orphanet:206976", source="Orphanet:206976/inferred"} ! skeletal muscle disorder property_value: IAO:0000589 "periodic paralysis (disease)" xsd:string @@ -317599,7 +317440,7 @@ id: MONDO:0016125 name: infectious, fungal or parasitic myopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206988"} -xref: ICD10CM:M60.0 {source="Orphanet:206988", source="ORDO:206988/e"} +xref: ICD10CM:M60.0 {source="Orphanet:206988", source="Orphanet:206988/e"} xref: Orphanet:206988 {source="MONDO:equivalentTo"} is_a: MONDO:0016105 {source="Orphanet:206988"} ! acquired skeletal muscle disease intersection_of: MONDO:0005336 ! myopathy @@ -317609,12 +317450,12 @@ intersection_of: MONDO:0005550 ! infectious disease id: MONDO:0016126 name: viral myositis subset: ordo_disease {source="Orphanet:206991"} -xref: ICD10CM:M60.0 {source="ORDO:206991/ntbt", source="Orphanet:206991"} +xref: ICD10CM:M60.0 {source="Orphanet:206991", source="Orphanet:206991/ntbt"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051512 {source="Orphanet:206991", source="ORDO:206991/e"} +xref: MedDRA:10051512 {source="Orphanet:206991/e", source="Orphanet:206991"} xref: Orphanet:206991 {source="MONDO:equivalentTo"} xref: SCTID:240105009 {source="MONDO:equivalentTo"} -xref: UMLS:C0150005 {source="MONDO:equivalentTo", source="Orphanet:206991", source="ORDO:206991/e"} +xref: UMLS:C0150005 {source="Orphanet:206991/e", source="MONDO:equivalentTo", source="Orphanet:206991"} is_a: MONDO:0016125 {source="Orphanet:206991"} ! infectious, fungal or parasitic myopathy intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses @@ -317624,7 +317465,7 @@ intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue id: MONDO:0016127 name: bacterial myositis subset: ordo_disease {source="Orphanet:206994"} -xref: ICD10CM:M60.0 {source="ORDO:206994/ntbt", source="Orphanet:206994"} +xref: ICD10CM:M60.0 {source="Orphanet:206994/ntbt", source="Orphanet:206994"} xref: Orphanet:206994 {source="MONDO:equivalentTo"} xref: SCTID:30330001 {source="MONDO:equivalentTo"} is_a: MONDO:0016125 {source="Orphanet:206994"} ! infectious, fungal or parasitic myopathy @@ -317637,11 +317478,11 @@ id: MONDO:0016128 name: parasitic myositis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206997"} -xref: ICD10CM:M60.0 {source="Orphanet:206997", source="ORDO:206997/ntbt"} +xref: ICD10CM:M60.0 {source="Orphanet:206997", source="Orphanet:206997/ntbt"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:206997 {source="MONDO:equivalentTo"} xref: SCTID:60970005 {source="MONDO:equivalentTo"} -xref: UMLS:C0263997 {source="Orphanet:206997", source="ORDO:206997/e", source="MONDO:equivalentTo"} +xref: UMLS:C0263997 {source="Orphanet:206997", source="MONDO:equivalentTo", source="Orphanet:206997/e"} is_a: MONDO:0016125 {source="Orphanet:206997"} ! infectious, fungal or parasitic myopathy [Term] @@ -317655,16 +317496,16 @@ synonym: "eosinophilic gastroenteritis" EXACT [DOID:4031, NCIT:C35330] synonym: "eosinophilic gastroenterocolitis" EXACT [Orphanet:2070] xref: DOID:4031 {source="MONDO:equivalentTo"} xref: GARD:0009142 {source="MONDO:equivalentTo"} -xref: ICD10CM:K52.8 {source="ORDO:2070/ntbt", source="Orphanet:2070"} +xref: ICD10CM:K52.8 {source="Orphanet:2070", source="Orphanet:2070/ntbt"} xref: ICD9:558.41 {source="MONDO:equivalentTo", source="i2s", source="DOID:4031"} -xref: MedDRA:10017902 {source="Orphanet:2070", source="ORDO:2070/e"} -xref: MESH:C535952 {source="Orphanet:2070", source="ORDO:2070/e", source="DOID:4031"} +xref: MedDRA:10017902 {source="Orphanet:2070", source="Orphanet:2070/e"} +xref: MESH:C535952 {source="Orphanet:2070", source="DOID:4031", source="Orphanet:2070/e"} xref: NCIT:C35330 {source="MONDO:equivalentTo", source="DOID:4031"} xref: Orphanet:2070 {source="MONDO:equivalentTo"} xref: SCTID:32183007 {source="DOID:4031"} xref: SCTID:359804008 {source="MONDO:equivalentTo", source="DOID:4031"} xref: SCTID:68270003 {source="DOID:4031"} -xref: UMLS:C1262481 {source="NCIT:C35330", source="MONDO:equivalentTo", source="Orphanet:2070", source="ORDO:2070/e", source="DOID:4031"} +xref: UMLS:C1262481 {source="NCIT:C35330", source="MONDO:equivalentTo", source="Orphanet:2070", source="DOID:4031", source="Orphanet:2070/e"} xref: UMLS:C2062326 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2070"} is_a: MONDO:0002269 {source="DOID:4031", source="NCIT:C35330", source="linkedlifedata"} ! gastroenteritis is_a: MONDO:0015111 {source="Orphanet:2070"} ! gastroesophageal disease @@ -317676,10 +317517,10 @@ intersection_of: disease_has_inflammation_site UBERON:0000160 ! intestine id: MONDO:0016130 name: fungal myositis subset: ordo_disease {source="Orphanet:207000"} -xref: ICD10CM:M60.0 {source="ORDO:207000/ntbt", source="Orphanet:207000"} +xref: ICD10CM:M60.0 {source="Orphanet:207000", source="Orphanet:207000/ntbt"} xref: Orphanet:207000 {source="MONDO:equivalentTo"} xref: SCTID:240111007 {source="MONDO:equivalentTo"} -xref: UMLS:C0410251 {source="MONDO:equivalentTo", source="Orphanet:207000", source="ORDO:207000/e"} +xref: UMLS:C0410251 {source="MONDO:equivalentTo", source="Orphanet:207000", source="Orphanet:207000/e"} is_a: MONDO:0016125 {source="Orphanet:207000"} ! infectious, fungal or parasitic myopathy intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi @@ -317750,7 +317591,7 @@ id: MONDO:0016136 name: obsolete cerebellar ataxia with peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebellar ataxia' subset: ordo_group_of_disorders {source="Orphanet:207028"} -xref: ICD10CM:G60.2 {source="ORDO:207028/specific", source="Orphanet:207028", source="ORDO:207028/e"} +xref: ICD10CM:G60.2 {source="Orphanet:207028/specific", source="Orphanet:207028/e", source="Orphanet:207028"} xref: Orphanet:207028 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -318006,25 +317847,25 @@ synonym: "paroxysmal sleep" RELATED [GARD:0007162] xref: DOID:8986 {source="MONDO:subClassOf", source="EFO:0000614"} xref: EFO:0000614 {source="MONDO:equivalentTo"} xref: GARD:0007162 {source="MONDO:equivalentTo"} -xref: ICD10CM:G47.4 {source="MONDO:equivalentTo", source="ORDO:2073/e", source="Orphanet:2073"} +xref: ICD10CM:G47.4 {source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"} xref: ICD10CM:G47.41 {source="DOID:8986"} xref: ICD10CM:G47.419 {source="DOID:8986", source="MONDO:directSiblingOf"} xref: ICD9:347.0 {source="DOID:8986", source="EFO:0000614"} -xref: MedDRA:10028713 {source="ORDO:2073/e", source="Orphanet:2073"} +xref: MedDRA:10028713 {source="Orphanet:2073/e", source="Orphanet:2073"} xref: MESH:D009290 {source="MONDO:subClassOf", source="EFO:0000614"} xref: NCIT:C84489 {source="MONDO:subClassOf", source="EFO:0000614"} -xref: OMIM:161400 {source="ORDO:2073/btnt", source="DOID:8986", source="GARD:0007162", source="MONDO:superClassOf", source="EFO:0000614", source="Orphanet:2073"} -xref: OMIM:605841 {source="ORDO:2073/btnt", source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073"} -xref: OMIM:609039 {source="ORDO:2073/btnt", source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073"} -xref: OMIM:612417 {source="ORDO:2073/btnt", source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073"} -xref: OMIM:612851 {source="ORDO:2073/btnt", source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073"} -xref: OMIM:614223 {source="ORDO:2073/btnt", source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073"} -xref: OMIM:614250 {source="ORDO:2073/btnt", source="DOID:8986", source="MONDO:superClassOf", source="EFO:0000614", source="Orphanet:2073"} +xref: OMIM:161400 {source="DOID:8986", source="GARD:0007162", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="EFO:0000614", source="Orphanet:2073"} +xref: OMIM:605841 {source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="Orphanet:2073"} +xref: OMIM:609039 {source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="Orphanet:2073"} +xref: OMIM:612417 {source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="Orphanet:2073"} +xref: OMIM:612851 {source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="Orphanet:2073"} +xref: OMIM:614223 {source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="Orphanet:2073"} +xref: OMIM:614250 {source="DOID:8986", source="MONDO:superClassOf", source="Orphanet:2073/btnt", source="EFO:0000614", source="Orphanet:2073"} xref: Orphanet:2073 {source="DOID:8986", source="GARD:0007162", source="MONDO:equivalentTo"} xref: SCTID:155059003 {source="DOID:8986"} xref: SCTID:267702006 {source="DOID:8986"} xref: SCTID:60380001 {source="MONDO:subClassOf", source="DOID:8986", source="EFO:0000614"} -xref: UMLS:C0751362 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2073/e", source="Orphanet:2073"} +xref: UMLS:C0751362 {source="Orphanet:2073/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2073"} is_a: MONDO:0003406 {source="EFO:0000614", source="ICD10CM:G47.4", source="MONDO:Redundant", source="Orphanet:2073", source="indirect"} ! sleep-wake disorder is_a: MONDO:0005560 {source="EFO:0000614/inferred", source="OWLReasoner:2017"} ! brain disorder is_a: MONDO:0021107 {source="MONDO:cjm"} ! narcolepsy @@ -318041,9 +317882,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2074"} synonym: "spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness" RELATED [GARD:0002451] synonym: "spinocerebellar ataxia-amyotrophy-deafness syndrome" EXACT [Orphanet:2074] xref: GARD:0002451 {source="MONDO:equivalentTo"} -xref: MESH:C537678 {source="MONDO:equivalentTo", source="Orphanet:2074", source="ORDO:2074/e"} +xref: MESH:C537678 {source="Orphanet:2074/e", source="MONDO:equivalentTo", source="Orphanet:2074"} xref: Orphanet:2074 {source="MONDO:equivalentTo"} -xref: UMLS:C2931587 {source="MONDO:equivalentTo", source="Orphanet:2074", source="ORDO:2074/e"} +xref: UMLS:C2931587 {source="Orphanet:2074/e", source="MONDO:equivalentTo", source="Orphanet:2074"} is_a: MONDO:0019589 {source="Orphanet:2074"} ! syndromic genetic hearing loss is_a: MONDO:0020047 {source="Orphanet:2074"} ! autosomal recessive syndromic cerebellar ataxia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome xsd:anyURI {source="GARD:0002451"} @@ -318053,9 +317894,9 @@ id: MONDO:0016160 name: X-linked intellectual disability-epilepsy syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2076"} -xref: OMIM:300088 {source="MONDO:superClassOf", source="ORDO:2076/btnt", source="Orphanet:2076"} -xref: OMIM:300423 {source="MONDO:superClassOf", source="ORDO:2076/btnt", source="Orphanet:2076"} -xref: OMIM:300607 {source="MONDO:superClassOf", source="ORDO:2076/btnt", source="Orphanet:2076"} +xref: OMIM:300088 {source="MONDO:superClassOf", source="Orphanet:2076/btnt", source="Orphanet:2076"} +xref: OMIM:300423 {source="MONDO:superClassOf", source="Orphanet:2076/btnt", source="Orphanet:2076"} +xref: OMIM:300607 {source="MONDO:superClassOf", source="Orphanet:2076/btnt", source="Orphanet:2076"} xref: Orphanet:2076 {source="MONDO:equivalentTo"} xref: UMLS:CN226857 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:2076"} ! monogenic epilepsy @@ -318071,7 +317912,7 @@ synonym: "cerebral gigantism jaw cysts" RELATED [GARD:0001206] synonym: "Cramer Niederdellmann syndrome" RELATED [GARD:0001206] synonym: "Cramer-Niederdellmann syndrome" EXACT [Orphanet:2081] xref: GARD:0001206 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="ORDO:2081/ntbt", source="Orphanet:2081"} +xref: ICD10CM:Q04.8 {source="Orphanet:2081", source="Orphanet:2081/ntbt"} xref: Orphanet:2081 {source="MONDO:equivalentTo", source="GARD:0001206"} xref: SCTID:725418006 {source="MONDO:equivalentTo"} xref: UMLS:CN200907 {source="MONDO:equivalentTo"} @@ -318085,8 +317926,8 @@ def: "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicr subset: gard_rare {source="GARD:0010783"} subset: ordo_clinical_subtype {source="Orphanet:208444"} xref: GARD:0010783 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:208444/attributed", source="ORDO:208444/ntbt", source="Orphanet:208444"} -xref: OMIM:610031 {source="ORDO:208444/btnt", source="MONDO:superClassOf", source="Orphanet:208444"} +xref: ICD10CM:Q04.3 {source="Orphanet:208444/attributed", source="Orphanet:208444/ntbt", source="Orphanet:208444"} +xref: OMIM:610031 {source="MONDO:superClassOf", source="Orphanet:208444/btnt", source="Orphanet:208444"} xref: Orphanet:208444 {source="MONDO:equivalentTo"} is_a: MONDO:0017091 {source="Orphanet:208444"} ! bilateral polymicrogyria property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria xsd:anyURI {source="GARD:0010783"} @@ -318109,7 +317950,7 @@ id: MONDO:0016164 name: herpetiform pemphigus def: "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated." [Orphanet:208524] subset: ordo_disease {source="Orphanet:208524"} -xref: ICD10CM:L10.2 {source="ORDO:208524/ntbt", source="Orphanet:208524"} +xref: ICD10CM:L10.2 {source="Orphanet:208524/ntbt", source="Orphanet:208524"} xref: Orphanet:208524 {source="MONDO:equivalentTo"} xref: UMLS:CN226858 {source="MONDO:equivalentTo"} is_a: MONDO:0018745 {source="Orphanet:208524"} ! superficial pemphigus @@ -318157,7 +317998,7 @@ synonym: "optic pathway glioma" EXACT [NCIT:C8567] synonym: "optic tract glioma" EXACT [MONDO:patterns/location, NCIT:C8567] synonym: "visual pathway glioma" EXACT [NCIT:C8567] xref: GARD:0004107 {source="MONDO:equivalentTo"} -xref: ICD10CM:D33.3 {source="ORDO:2086/ntbt", source="Orphanet:2086"} +xref: ICD10CM:D33.3 {source="Orphanet:2086/ntbt", source="Orphanet:2086"} xref: NCIT:C8567 {source="MONDO:equivalentTo"} xref: Orphanet:2086 {source="MONDO:equivalentTo"} xref: UMLS:C0796418 {source="MONDO:equivalentTo", source="NCIT:C8567", source="Orphanet:2086"} @@ -318177,14 +318018,14 @@ subset: ordo_group_of_disorders {source="Orphanet:208650"} synonym: "caps" BROAD [Orphanet:208650] synonym: "Cryopyrinopathy" EXACT [Orphanet:208650] xref: GARD:0010927 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.0 {source="ORDO:208650/attributed", source="ORDO:208650/ntbt", source="Orphanet:208650"} +xref: ICD10CM:E85.0 {source="Orphanet:208650", source="Orphanet:208650/attributed", source="Orphanet:208650/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068850 {source="Orphanet:208650", source="ORDO:208650/e"} -xref: MESH:D056587 {source="MONDO:equivalentTo", source="Orphanet:208650", source="ORDO:208650/e"} +xref: MedDRA:10068850 {source="Orphanet:208650", source="Orphanet:208650/e"} +xref: MESH:D056587 {source="MONDO:equivalentTo", source="Orphanet:208650", source="Orphanet:208650/e"} xref: NCIT:C84657 {source="MONDO:equivalentTo"} xref: Orphanet:208650 {source="MONDO:equivalentTo"} xref: SCTID:430079001 {source="MONDO:equivalentTo"} -xref: UMLS:C2316212 {source="NCIT:C84657", source="MONDO:equivalentTo", source="Orphanet:208650", source="ORDO:208650/e"} +xref: UMLS:C2316212 {source="NCIT:C84657", source="MONDO:equivalentTo", source="Orphanet:208650", source="Orphanet:208650/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84657", source="indirect"} ! syndromic disease is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017953 {source="MESH:D056587", source="Orphanet:208650"} ! hereditary periodic fever syndrome @@ -318211,7 +318052,7 @@ def: "Chronic form of polyradiculoneuropathy." [MONDO:patterns/chronic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:208978"} synonym: "polyradiculoneuropathy, chronic" EXACT [MONDO:patterns/chronic] -xref: ICD10CM:G61.8 {source="Orphanet:208978", source="ORDO:208978/ntbt"} +xref: ICD10CM:G61.8 {source="Orphanet:208978/ntbt", source="Orphanet:208978"} xref: Orphanet:208978 {source="MONDO:equivalentTo"} is_a: MONDO:0016169 {source="Orphanet:208978"} ! chronic acquired demyelinating polyneuropathy intersection_of: MONDO:0006915 ! polyradiculoneuropathy @@ -318221,7 +318062,7 @@ intersection_of: has_modifier PATO:0001863 ! chronic id: MONDO:0016171 name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies subset: ordo_disease {source="Orphanet:208981"} -xref: ICD10CM:G61.8 {source="MONDO:subClassOf", source="ORDO:208981/ntbt", source="Orphanet:208981"} +xref: ICD10CM:G61.8 {source="MONDO:subClassOf", source="Orphanet:208981/ntbt", source="Orphanet:208981"} xref: Orphanet:208981 {source="MONDO:equivalentTo"} is_a: MONDO:0016170 {source="Orphanet:208981"} ! chronic polyradiculoneuropathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -318275,14 +318116,14 @@ synonym: "generalized elastolysis" RELATED [GARD:0006227] synonym: "loose skin" EXACT [DOID:3144] xref: DOID:3144 {source="MONDO:equivalentTo"} xref: GARD:0006227 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="DOID:3144", source="ORDO:209/ntbt", source="Orphanet:209", source="ORDO:209/inclusion"} -xref: MedDRA:10011692 {source="ORDO:209/e", source="Orphanet:209"} -xref: MESH:D003483 {source="DOID:3144", source="ORDO:209/e", source="MONDO:equivalentTo", source="Orphanet:209"} +xref: ICD10CM:Q82.8 {source="DOID:3144", source="Orphanet:209/inclusion", source="Orphanet:209", source="Orphanet:209/ntbt"} +xref: MedDRA:10011692 {source="Orphanet:209", source="Orphanet:209/e"} +xref: MESH:D003483 {source="DOID:3144", source="MONDO:equivalentTo", source="Orphanet:209", source="Orphanet:209/e"} xref: NCIT:C84663 {source="DOID:3144", source="MONDO:equivalentTo"} xref: Orphanet:209 {source="DOID:3144", source="MONDO:equivalentTo"} xref: SCTID:238825007 {source="DOID:3144"} xref: SCTID:58588007 {source="DOID:3144", source="MONDO:equivalentTo"} -xref: UMLS:C0010495 {source="DOID:3144", source="ORDO:209/e", source="MONDO:equivalentTo", source="Orphanet:209", source="NCIT:C84663"} +xref: UMLS:C0010495 {source="DOID:3144", source="MONDO:equivalentTo", source="Orphanet:209", source="NCIT:C84663", source="Orphanet:209/e"} is_a: MONDO:0015216 {source="Orphanet:209"} ! syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0015880 {source="Orphanet:209"} ! syndromic diaphragmatic or thoracic malformation is_a: MONDO:0019292 {source="Orphanet:209", source="Orphanet:209/inferred"} ! dermis elastic tissue disorder @@ -318294,7 +318135,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6227/cutis-la id: MONDO:0016176 name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy subset: ordo_disease {source="Orphanet:209004"} -xref: ICD10CM:G61.8 {source="ORDO:209004/ntbt", source="Orphanet:209004"} +xref: ICD10CM:G61.8 {source="Orphanet:209004", source="Orphanet:209004/ntbt"} xref: Orphanet:209004 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:209004"} ! acquired peripheral neuropathy @@ -318537,8 +318378,8 @@ name: autosomal dominant rhegmatogenous retinal detachment def: "Autosomal dominant form of rhegmatogenous retinal detachment." [MONDO:patterns/autosomal_dominant] subset: ordo_disease {source="Orphanet:209867"} synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:H33.0 {source="Orphanet:209867", source="ORDO:209867/attributed", source="ORDO:209867/ntbt"} -xref: OMIM:609508 {source="MONDO:subClassOf", source="Orphanet:209867", source="ORDO:209867/ntbt"} +xref: ICD10CM:H33.0 {source="Orphanet:209867", source="Orphanet:209867/attributed", source="Orphanet:209867/ntbt"} +xref: OMIM:609508 {source="MONDO:subClassOf", source="Orphanet:209867", source="Orphanet:209867/ntbt"} xref: Orphanet:209867 {source="MONDO:equivalentTo"} xref: UMLS:C1836081 {source="Orphanet:209867", source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="Orphanet:209867"} ! retinal disorder @@ -318551,7 +318392,7 @@ property_value: confidence "0.934782608695653" xsd:double id: MONDO:0016203 name: hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency subset: ordo_disease {source="Orphanet:209902"} -xref: ICD10CM:E78.0 {source="Orphanet:209902", source="ORDO:209902/attributed", source="ORDO:209902/ntbt"} +xref: ICD10CM:E78.0 {source="Orphanet:209902/attributed", source="Orphanet:209902/ntbt", source="Orphanet:209902"} xref: Orphanet:209902 {source="MONDO:equivalentTo"} is_a: MONDO:0005439 ! familial hypercholesterolemia is_a: MONDO:0019218 {source="Orphanet:209902"} ! inborn disorder of bile acid synthesis @@ -318563,8 +318404,8 @@ name: idiopathic copper-associated cirrhosis def: "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." [Orphanet:209919] subset: ordo_disease {source="Orphanet:209919"} synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [Orphanet:209919] -xref: ICD10CM:K74.6 {source="ORDO:209919/ntbt", source="Orphanet:209919"} -xref: OMIM:215600 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:209919/ntbt", source="Orphanet:209919"} +xref: ICD10CM:K74.6 {source="Orphanet:209919", source="Orphanet:209919/ntbt"} +xref: OMIM:215600 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:209919", source="Orphanet:209919/ntbt"} xref: Orphanet:209919 {source="MONDO:equivalentTo"} xref: SCTID:715864007 {source="MONDO:equivalentTo"} is_a: MONDO:0005154 ! liver disorder @@ -318580,7 +318421,7 @@ subset: ordo_disease {source="Orphanet:209943"} synonym: "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome" EXACT [Orphanet:209943] synonym: "idiopathic retinal-aneurysms-neuroretinitis syndrome" RELATED [GARD:0012868] xref: GARD:0012868 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H35.0 {source="ORDO:209943/attributed", source="ORDO:209943/ntbt", source="Orphanet:209943"} +xref: ICD10CM:H35.0 {source="Orphanet:209943/attributed", source="Orphanet:209943/ntbt", source="Orphanet:209943"} xref: Orphanet:209943 {source="MONDO:equivalentTo"} xref: UMLS:C3665812 {source="MONDO:equivalentTo", source="Orphanet:209943"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder @@ -318609,7 +318450,7 @@ synonym: "lens-induced uveitis" EXACT [Orphanet:209959] synonym: "Phacoallergic endophthalmitis" EXACT [Orphanet:209959] synonym: "Phacoantigenic endophthalmitis" EXACT [Orphanet:209959] synonym: "Phako-anaphylactic endophthalmitis" EXACT [Orphanet:209959] -xref: ICD10CM:H20.2 {source="ORDO:209959/e", source="Orphanet:209959"} +xref: ICD10CM:H20.2 {source="Orphanet:209959", source="Orphanet:209959/e"} xref: Orphanet:209959 {source="MONDO:equivalentTo"} xref: SCTID:410494003 {source="MONDO:equivalentTo"} xref: UMLS:C0152137 {source="MONDO:relatedTo", source="Orphanet:209959"} @@ -318622,7 +318463,7 @@ id: MONDO:0016208 name: solitary rectal ulcer syndrome def: "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." [Orphanet:209964] subset: ordo_disease {source="Orphanet:209964"} -xref: ICD10CM:K62.6 {source="MONDO:relatedTo", source="ORDO:209964/ntbt", source="Orphanet:209964"} +xref: ICD10CM:K62.6 {source="MONDO:relatedTo", source="Orphanet:209964/ntbt", source="Orphanet:209964"} xref: Orphanet:209964 {source="MONDO:equivalentTo"} xref: SCTID:716685003 {source="MONDO:equivalentTo"} xref: UMLS:C4274343 {source="MONDO:equivalentTo"} @@ -318655,16 +318496,16 @@ id: MONDO:0016211 name: non-papillary transitional cell carcinoma of the bladder subset: ordo_disease {source="Orphanet:209989"} synonym: "non-papillary urothelial carcinoma" EXACT [Orphanet:209989] -xref: ICD10CM:C67.0 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.1 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.2 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.3 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.4 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.5 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.6 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.7 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.8 {source="Orphanet:209989", source="ORDO:209989/btnt"} -xref: ICD10CM:C67.9 {source="Orphanet:209989", source="ORDO:209989/btnt"} +xref: ICD10CM:C67.0 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.1 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.2 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.3 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.4 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.5 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.6 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.7 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.8 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: ICD10CM:C67.9 {source="Orphanet:209989", source="Orphanet:209989/btnt"} xref: Orphanet:209989 {source="MONDO:equivalentTo"} xref: UMLS:CN200968 {source="MONDO:equivalentTo"} is_a: MONDO:0006474 {source="MONDO:0016211/inferred", source="MONDO:cjm"} ! transitional cell carcinoma @@ -318684,7 +318525,7 @@ id: MONDO:0016213 name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome def: "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." [Orphanet:210133] subset: ordo_disease {source="Orphanet:210133"} -xref: ICD10CM:Q82.8 {source="Orphanet:210133", source="ORDO:210133/attributed", source="ORDO:210133/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:210133/attributed", source="Orphanet:210133/ntbt", source="Orphanet:210133"} xref: Orphanet:210133 {source="MONDO:equivalentTo"} xref: UMLS:CN226881 {source="MONDO:equivalentTo"} is_a: MONDO:0019285 {source="Orphanet:210133"} ! syndromic nail anomaly @@ -318714,14 +318555,14 @@ synonym: "spastic tetraplegia cerebral palsy" EXACT [GARD:0010447] synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970] xref: DOID:10970 {source="MONDO:equivalentTo"} xref: GARD:0010447 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="ORDO:210141/attributed", source="ORDO:210141/ntbt", source="Orphanet:210141"} +xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:210141/attributed", source="Orphanet:210141/ntbt", source="Orphanet:210141"} xref: ICD9:343.2 {source="DOID:10970"} xref: ICD9:344.09 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D002547 {source="MONDO:subClassOf", source="DOID:10970"} xref: NCIT:C116904 {source="MONDO:equivalentTo"} -xref: OMIM:603513 {source="MONDO:superClassOf", source="Orphanet:210141", source="DOID:10970", source="ORDO:210141/e"} -xref: OMIM:612900 {source="MONDO:superClassOf", source="ORDO:210141/btnt", source="Orphanet:210141", source="DOID:10970"} -xref: OMIM:617008 {source="MONDO:superClassOf", source="ORDO:210141/btnt", source="Orphanet:210141"} +xref: OMIM:603513 {source="Orphanet:210141/e", source="MONDO:superClassOf", source="Orphanet:210141", source="DOID:10970"} +xref: OMIM:612900 {source="MONDO:superClassOf", source="Orphanet:210141/btnt", source="Orphanet:210141", source="DOID:10970"} +xref: OMIM:617008 {source="MONDO:superClassOf", source="Orphanet:210141/btnt", source="Orphanet:210141"} xref: OMIMPS:603513 {source="MONDO:cjm", source="MONDO:equivalentObsolete"} xref: OMIMPS:612900 {source="MONDO:equivalentTo"} xref: Orphanet:210141 {source="MONDO:equivalentTo", source="DOID:10970"} @@ -318751,7 +318592,7 @@ synonym: "adult primary liver cell carcinoma" EXACT [NCIT:C7956] synonym: "hepatocellular cancer" BROAD [NCIT:C7956] synonym: "hepatocellular carcinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0070328 {source="MONDO:equivalentTo"} -xref: ICD10CM:C22.0 {source="ORDO:210159/ntbt", source="Orphanet:210159"} +xref: ICD10CM:C22.0 {source="Orphanet:210159", source="Orphanet:210159/ntbt"} xref: NCIT:C7956 {source="MONDO:equivalentTo"} xref: Orphanet:210159 {source="MONDO:equivalentTo"} xref: UMLS:C0279607 {source="MONDO:equivalentTo", source="NCIT:C7956"} @@ -318772,12 +318613,12 @@ synonym: "MDD" EXACT ABBREVIATION [Orphanet:210272] synonym: "MdDS" EXACT [Orphanet:210272] synonym: "sickness of disembarkment" EXACT [Orphanet:210272] xref: GARD:0006959 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H81.8 {source="ORDO:210272/ntbt", source="Orphanet:210272"} -xref: MedDRA:10064924 {source="ORDO:210272/e", source="Orphanet:210272"} -xref: MESH:C537840 {source="ORDO:210272/e", source="Orphanet:210272"} +xref: ICD10CM:H81.8 {source="Orphanet:210272/ntbt", source="Orphanet:210272"} +xref: MedDRA:10064924 {source="Orphanet:210272/e", source="Orphanet:210272"} +xref: MESH:C537840 {source="Orphanet:210272/e", source="Orphanet:210272"} xref: Orphanet:210272 {source="MONDO:equivalentTo"} xref: SCTID:446079007 {source="MONDO:equivalentTo"} -xref: UMLS:C1608983 {source="MONDO:equivalentTo", source="ORDO:210272/e", source="Orphanet:210272"} +xref: UMLS:C1608983 {source="Orphanet:210272/e", source="MONDO:equivalentTo", source="Orphanet:210272"} is_a: MONDO:0024623 {source="Orphanet:210272"} ! otorhinolaryngologic disease relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare @@ -318808,13 +318649,13 @@ synonym: "postinfectious polyneuritis" NARROW [DOID:12842] xref: DOID:12842 {source="EFO:0007292", source="MONDO:equivalentTo"} xref: EFO:0007292 {source="MONDO:equivalentTo"} xref: GARD:0006554 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G61.0 {source="DOID:12842", source="ORDO:2103/e", source="Orphanet:2103", source="MONDO:equivalentTo"} -xref: MedDRA:10018767 {source="ORDO:2103/e", source="Orphanet:2103"} -xref: MESH:D020275 {source="DOID:12842", source="ORDO:2103/e", source="Orphanet:2103", source="EFO:0007292", source="MONDO:equivalentTo"} +xref: ICD10CM:G61.0 {source="DOID:12842", source="Orphanet:2103", source="MONDO:equivalentTo", source="Orphanet:2103/e"} +xref: MedDRA:10018767 {source="Orphanet:2103", source="Orphanet:2103/e"} +xref: MESH:D020275 {source="DOID:12842", source="Orphanet:2103", source="EFO:0007292", source="MONDO:equivalentTo", source="Orphanet:2103/e"} xref: NCIT:C116345 {source="DOID:12842", source="MONDO:equivalentTo"} xref: Orphanet:2103 {source="MONDO:equivalentTo"} xref: SCTID:40956001 {source="MONDO:equivalentTo"} -xref: UMLS:C0018378 {source="DOID:12842", source="ORDO:2103/e", source="Orphanet:2103", source="MONDO:equivalentTo", source="NCIT:C116345", source="OMIM:139393"} +xref: UMLS:C0018378 {source="DOID:12842", source="Orphanet:2103", source="MONDO:equivalentTo", source="NCIT:C116345", source="Orphanet:2103/e", source="OMIM:139393"} is_a: MONDO:0000590 {source="DOID:12842", source="MONDO:Entailed", source="indirect"} ! autoimmune disorder of peripheral nervous system is_a: MONDO:0002254 {source="NCIT:C116345"} ! syndromic disease is_a: MONDO:0002977 {source="DOID:12842/inferred", source="MESH:D020275/inferred", source="MONDO:Redundant", source="NCIT:C116345", source="indirect"} ! autoimmune disorder of the nervous system @@ -318831,7 +318672,7 @@ synonym: "dysmorphism-pectus carinatum-joint laxity syndrome" EXACT [GARD:000035 synonym: "Guizar Vasquez Sanchez Manzano syndrome" RELATED [GARD:0000352] synonym: "Guízar Vázquez-Sánchez-Manzano syndrome" EXACT [Orphanet:2104] xref: GARD:0000352 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2104", source="ORDO:2104/attributed", source="ORDO:2104/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2104/attributed", source="Orphanet:2104/ntbt", source="Orphanet:2104"} xref: Orphanet:2104 {source="GARD:0000352", source="MONDO:equivalentTo"} xref: UMLS:CN237430 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2104", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -318871,7 +318712,7 @@ synonym: "spindle cell hemangioendothelioma" EXACT [NCIT:C4754, Orphanet:210584] synonym: "spindle cell hemangioma" EXACT [NCIT:C4754] xref: DOID:496 {source="MONDO:equivalentTo"} xref: EFO:0002856 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="Orphanet:210584", source="ORDO:210584/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:210584/ntbt", source="Orphanet:210584"} xref: ICDO:9136/0 {source="NCIT:C4754"} xref: ICDO:9136/1 {source="NCIT:C4754"} xref: NCIT:C4754 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:496"} @@ -318879,7 +318720,7 @@ xref: Orphanet:210584 {source="MONDO:equivalentTo"} xref: SCTID:128769003 {source="DOID:496"} xref: SCTID:134304005 {source="DOID:496"} xref: SCTID:403967000 {source="MONDO:equivalentTo", source="DOID:496"} -xref: UMLS:C1304508 {source="ORDO:210584/e", source="Orphanet:210584", source="MONDO:equivalentTo", source="NCIT:C4754", source="DOID:496"} +xref: UMLS:C1304508 {source="Orphanet:210584", source="MONDO:equivalentTo", source="Orphanet:210584/e", source="NCIT:C4754", source="DOID:496"} is_a: MONDO:0006500 {source="DOID:496", source="NCIT:C4754"} ! hemangioma is_a: MONDO:0024296 {source="Orphanet:210584"} ! vascular neoplasm intersection_of: MONDO:0006500 ! hemangioma @@ -318908,7 +318749,7 @@ def: "Autosomal dominant form of proximal spinal muscular atrophy." [MONDO:patte subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:211037"} synonym: "proximal spinal muscular atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:G12.1 {source="Orphanet:211037", source="ORDO:211037/attributed", source="ORDO:211037/ntbt"} +xref: ICD10CM:G12.1 {source="Orphanet:211037/attributed", source="Orphanet:211037/ntbt", source="Orphanet:211037"} xref: Orphanet:211037 {source="MONDO:equivalentTo"} xref: UMLS:CN229044 {source="MONDO:equivalentTo"} intersection_of: MONDO:0019079 ! proximal spinal muscular atrophy @@ -318952,7 +318793,7 @@ synonym: "Isaacs syndrome" RELATED [DOID:963] xref: DOID:963 {source="MONDO:equivalentTo", source="EFO:1000638"} xref: EFO:1000638 {source="MONDO:equivalentTo"} xref: GARD:0009851 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="ORDO:211062/attributed", source="ORDO:211062/ntbt", source="Orphanet:211062"} +xref: ICD10CM:G11.8 {source="Orphanet:211062/attributed", source="Orphanet:211062/ntbt", source="Orphanet:211062"} xref: MESH:C580065 {source="DOID:963"} xref: OMIMPS:160120 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:211062 {source="DOID:963", source="MONDO:equivalentTo", source="MONDO:superClassOf"} @@ -319009,7 +318850,7 @@ synonym: "congenital malformation of capillary" NARROW [] synonym: "rare capillary malformation" RELATED [Orphanet:211247] xref: Orphanet:211247 {source="MONDO:equivalentTo"} xref: SCTID:234118009 {source="MONDO:equivalentTo"} -xref: UMLS:C0340803 {source="Orphanet:211247", source="ORDO:211247/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0340803 {source="Orphanet:211247", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211247/e"} is_a: MONDO:0016230 {source="Orphanet:211247"} ! simple vascular malformation relationship: disease_arises_from_structure UBERON:0001982 ! capillary @@ -319025,9 +318866,9 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q27.8 {source="ORDO:211252/ntbt", source="Orphanet:211252"} -consider: MedDRA:10025532 {source="Orphanet:211252", source="ORDO:211252/e"} -consider: UMLS:C0265950 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211252", source="ORDO:211252/e"} +consider: ICD10CM:Q27.8 {source="Orphanet:211252/ntbt", source="Orphanet:211252"} +consider: MedDRA:10025532 {source="Orphanet:211252/e", source="Orphanet:211252"} +consider: UMLS:C0265950 {source="Orphanet:211252/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211252"} consider: UMLS:C2937220 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:211252"} [Term] @@ -319057,11 +318898,11 @@ xref: UMLS:CN226888 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundIn property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0001256 -consider: ICD10CM:Q27.3 {source="ORDO:211266/e", source="Orphanet:211266"} -consider: MedDRA:10003193 {source="ORDO:211266/e", source="Orphanet:211266"} -consider: MESH:D001165 {source="ORDO:211266/e", source="MONDO:relatedTo", source="Orphanet:211266"} -consider: UMLS:C0003857 {source="ORDO:211266/e", source="Orphanet:211266"} -consider: UMLS:C0334533 {source="ORDO:211266/e", source="MONDO:relatedTo", source="Orphanet:211266"} +consider: ICD10CM:Q27.3 {source="Orphanet:211266", source="Orphanet:211266/e"} +consider: MedDRA:10003193 {source="Orphanet:211266", source="Orphanet:211266/e"} +consider: MESH:D001165 {source="MONDO:relatedTo", source="Orphanet:211266", source="Orphanet:211266/e"} +consider: UMLS:C0003857 {source="Orphanet:211266", source="Orphanet:211266/e"} +consider: UMLS:C0334533 {source="MONDO:relatedTo", source="Orphanet:211266", source="Orphanet:211266/e"} [Term] id: MONDO:0016235 @@ -319087,12 +318928,12 @@ synonym: "Kaposiform hemangioendothelioma" EXACT [NCIT:C27510] synonym: "KH" RELATED ABBREVIATION [GARD:0003077] synonym: "KHE" RELATED ABBREVIATION [GARD:0003077] xref: GARD:0003077 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="Orphanet:2122", source="ORDO:2122/ntbt"} -xref: MESH:C537007 {source="Orphanet:2122", source="ORDO:2122/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D18.0 {source="Orphanet:2122", source="Orphanet:2122/ntbt"} +xref: MESH:C537007 {source="Orphanet:2122", source="MONDO:equivalentTo", source="Orphanet:2122/e"} xref: NCIT:C27510 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:2122 {source="MONDO:equivalentTo"} xref: SCTID:403983000 {source="MONDO:equivalentTo"} -xref: UMLS:C1367420 {source="Orphanet:2122", source="ORDO:2122/e", source="NCIT:C27510", source="MONDO:equivalentTo"} +xref: UMLS:C1367420 {source="Orphanet:2122", source="NCIT:C27510", source="MONDO:equivalentTo", source="Orphanet:2122/e"} is_a: MONDO:0006424 {source="Orphanet:2122"} ! soft tissue neoplasm is_a: MONDO:0021121 {source="MESH:C537007", source="NCIT:C27510", source="linkedlifedata"} ! hemangioendothelioma is_a: MONDO:0024296 {source="MONDO:Redundant", source="Orphanet:2122"} ! vascular neoplasm @@ -319107,7 +318948,7 @@ def: "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown ori subset: gard_rare {source="GARD:0001861"} subset: ordo_malformation_syndrome {source="Orphanet:2123"} xref: GARD:0001861 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:2123", source="ORDO:2123/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:2123/ntbt", source="Orphanet:2123"} xref: Orphanet:2123 {source="MONDO:equivalentTo"} xref: SCTID:254782003 {source="MONDO:equivalentTo"} xref: UMLS:C0474965 {source="GARD:0001861", source="MONDO:equivalentTo"} @@ -319127,19 +318968,19 @@ synonym: "SFT" EXACT ABBREVIATION [NCIT:C7634] synonym: "solitary fibrous tumor" EXACT [NCIT:C7634] synonym: "solitary fibrous tumor/hemangiopericytoma" RELATED [ONCOTREE:SFT] synonym: "submesothelial fibroma" EXACT [NCIT:C7634] -xref: ICD10CM:D21.9 {source="Orphanet:2126", source="ORDO:2126/ntbt"} +xref: ICD10CM:D21.9 {source="Orphanet:2126/ntbt", source="Orphanet:2126"} xref: ICD9:238.1 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8815/0 {source="NCIT:C7634"} xref: ICDO:8815/1 {source="NCIT:C7634"} xref: ICDO:9051/0 {source="NCIT:C7634"} -xref: MedDRA:10018825 {source="Orphanet:2126", source="ORDO:2126/e"} -xref: MESH:D006393 {source="MONDO:relatedTo", source="Orphanet:2126", source="ORDO:2126/e"} +xref: MedDRA:10018825 {source="Orphanet:2126", source="Orphanet:2126/e"} +xref: MESH:D006393 {source="MONDO:relatedTo", source="Orphanet:2126", source="Orphanet:2126/e"} xref: MESH:D054364 {source="MONDO:equivalentTo"} xref: NCIT:C7634 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:234820 {source="Orphanet:2126", source="ORDO:2126/btnt", source="MONDO:superClassOf"} +xref: OMIM:234820 {source="Orphanet:2126/btnt", source="Orphanet:2126", source="MONDO:superClassOf"} xref: ONCOTREE:SFT {source="MONDO:equivalentTo"} xref: Orphanet:2126 {source="MONDO:equivalentTo"} -xref: UMLS:C0018922 {source="Orphanet:2126", source="ORDO:2126/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0018922 {source="Orphanet:2126", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2126/e"} xref: UMLS:C1266119 {source="Orphanet:2126", source="MONDO:equivalentTo", source="NCIT:C7634"} is_a: MONDO:0006209 {source="NCIT:C7634"} ! fibroblastic neoplasm relationship: disease_has_feature NCIT:C37123 {source="NCIT:C7634"} ! Neoplastic Spindle-Shaped to Round Cell @@ -319158,21 +318999,21 @@ synonym: "cystinosis" EXACT CLINGEN_PREFERRED [] synonym: "Protein defect of cystin transport" EXACT [Orphanet:213] xref: DOID:1064 {source="MONDO:equivalentTo"} xref: GARD:0006236 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.0 {source="Orphanet:213", source="ORDO:213/inclusion", source="ORDO:213/ntbt"} +xref: ICD10CM:E72.0 {source="Orphanet:213", source="Orphanet:213/ntbt", source="Orphanet:213/inclusion"} xref: ICD10CM:E72.04 {source="DOID:1064", source="MONDO:equivalentTo"} -xref: MedDRA:10011777 {source="Orphanet:213", source="ORDO:213/e"} -xref: MESH:D003554 {source="DOID:1064", source="Orphanet:213", source="MONDO:equivalentTo", source="ORDO:213/e"} +xref: MedDRA:10011777 {source="Orphanet:213", source="Orphanet:213/e"} +xref: MESH:D003554 {source="DOID:1064", source="Orphanet:213", source="MONDO:equivalentTo", source="Orphanet:213/e"} xref: NCIT:C2976 {source="DOID:1064", source="MONDO:equivalentTo"} -xref: OMIM:219750 {source="DOID:1064", source="Orphanet:213", source="MONDO:superClassOf", source="ORDO:213/btnt"} -xref: OMIM:219800 {source="DOID:1064", source="Orphanet:213", source="MONDO:superClassOf", source="ORDO:213/btnt"} -xref: OMIM:219900 {source="DOID:1064", source="Orphanet:213", source="MONDO:superClassOf", source="ORDO:213/btnt"} +xref: OMIM:219750 {source="DOID:1064", source="Orphanet:213", source="Orphanet:213/btnt", source="MONDO:superClassOf"} +xref: OMIM:219800 {source="DOID:1064", source="Orphanet:213", source="Orphanet:213/btnt", source="MONDO:superClassOf"} +xref: OMIM:219900 {source="DOID:1064", source="Orphanet:213", source="Orphanet:213/btnt", source="MONDO:superClassOf"} xref: Orphanet:213 {source="DOID:1064", source="MONDO:equivalentTo", source="UMLS:CN035091"} xref: SCTID:111398009 {source="DOID:1064"} xref: SCTID:190681003 {source="DOID:1064", source="MONDO:equivalentTo"} xref: SCTID:190683000 {source="DOID:1064"} xref: SCTID:367374009 {source="DOID:1064"} xref: SCTID:62332007 {source="DOID:1064"} -xref: UMLS:C0010690 {source="Orphanet:213", source="MONDO:equivalentObsolete", source="ORDO:213/e", source="NCIT:C2976"} +xref: UMLS:C0010690 {source="Orphanet:213", source="MONDO:equivalentObsolete", source="Orphanet:213/e", source="NCIT:C2976"} xref: UMLS:C2931187 {source="DOID:1064", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN035091 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MESH:D003554/inferred", source="MONDO:Redundant", source="NCIT:C2976", source="Orphanet:213/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Mendelian disease @@ -319188,14 +319029,14 @@ def: "Hemimelia is a limb malformation characterized by the absence or gross sho subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2130"} synonym: "longitudinal meromelia" EXACT [Orphanet:2130] -xref: ICD10CM:Q71.8 {source="ORDO:2130/attributed", source="ORDO:2130/ntbt", source="Orphanet:2130"} -xref: ICD10CM:Q72.8 {source="ORDO:2130/attributed", source="ORDO:2130/ntbt", source="Orphanet:2130"} -xref: ICD10CM:Q73.8 {source="ORDO:2130/attributed", source="ORDO:2130/ntbt", source="Orphanet:2130"} -xref: MedDRA:10019464 {source="ORDO:2130/e", source="Orphanet:2130"} +xref: ICD10CM:Q71.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} +xref: ICD10CM:Q72.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} +xref: ICD10CM:Q73.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} +xref: MedDRA:10019464 {source="Orphanet:2130/e", source="Orphanet:2130"} xref: NCIT:C34674 {source="MONDO:equivalentTo"} xref: Orphanet:2130 {source="MONDO:equivalentTo"} xref: SCTID:33076008 {source="MONDO:equivalentTo"} -xref: UMLS:C0018987 {source="MONDO:equivalentTo", source="NCIT:C34674", source="ORDO:2130/e", source="Orphanet:2130"} +xref: UMLS:C0018987 {source="Orphanet:2130/e", source="MONDO:equivalentTo", source="NCIT:C34674", source="Orphanet:2130"} is_a: MONDO:0019713 {source="Orphanet:2130", source="Orphanet:2130/inferred"} ! non-syndromic limb reduction defect [Term] @@ -319215,16 +319056,16 @@ synonym: "congenital adrenal Hypoplasia" EXACT [NCIT:C35261] synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0050635 {source="MONDO:equivalentTo"} xref: GARD:0000011 {source="MONDO:equivalentTo"} -xref: ICD10CM:G98 {source="DOID:0050635", source="ORDO:2131/attributed", source="ORDO:2131/ntbt", source="Orphanet:2131"} -xref: MESH:C536589 {source="MONDO:equivalentTo", source="Orphanet:2131", source="ORDO:2131/e"} +xref: ICD10CM:G98 {source="Orphanet:2131/attributed", source="Orphanet:2131/ntbt", source="DOID:0050635", source="Orphanet:2131"} +xref: MESH:C536589 {source="Orphanet:2131/e", source="MONDO:equivalentTo", source="Orphanet:2131"} xref: NCIT:C35261 {source="MONDO:equivalentTo"} -xref: OMIM:104290 {source="GARD:0000011", source="MONDO:superClassOf", source="DOID:0050635", source="ORDO:2131/btnt", source="Orphanet:2131"} -xref: OMIM:614820 {source="MONDO:superClassOf", source="DOID:0050635", source="ORDO:2131/btnt", source="Orphanet:2131"} +xref: OMIM:104290 {source="GARD:0000011", source="MONDO:superClassOf", source="Orphanet:2131/btnt", source="DOID:0050635", source="Orphanet:2131"} +xref: OMIM:614820 {source="MONDO:superClassOf", source="Orphanet:2131/btnt", source="DOID:0050635", source="Orphanet:2131"} xref: OMIMPS:104290 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2131 {source="GARD:0000011", source="MONDO:equivalentTo", source="DOID:0050635"} xref: SCTID:230466004 {source="MONDO:equivalentTo"} xref: UMLS:C0220766 {source="NCIT:C35261", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0338488 {source="MONDO:equivalentTo", source="Orphanet:2131", source="ORDO:2131/e"} +xref: UMLS:C0338488 {source="Orphanet:2131/e", source="MONDO:equivalentTo", source="Orphanet:2131"} is_a: MONDO:0001170 {source="DOID:0050635", source="MESH:C536589"} ! hemiplegia is_a: MONDO:0016210 {source="MONDO:Redundant", source="Orphanet:2131", source="linkedlifedata"} ! alternating hemiplegia is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder @@ -319243,15 +319084,15 @@ synonym: "Hb C disease" RELATED [GARD:0002640] synonym: "Hb-C disease" EXACT [DOID:2859] xref: DOID:2859 {source="MONDO:equivalentTo"} xref: GARD:0002640 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.2 {source="Orphanet:2132", source="DOID:2859", source="ORDO:2132/attributed", source="ORDO:2132/ntbt"} +xref: ICD10CM:D58.2 {source="Orphanet:2132", source="Orphanet:2132/attributed", source="Orphanet:2132/ntbt", source="DOID:2859"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10018883 {source="Orphanet:2132", source="ORDO:2132/e"} +xref: MedDRA:10018883 {source="Orphanet:2132", source="Orphanet:2132/e"} xref: MESH:C531699 {source="MONDO:equivalentTo"} -xref: MESH:D006445 {source="Orphanet:2132", source="MONDO:equivalentTo", source="DOID:2859", source="ORDO:2132/e"} +xref: MESH:D006445 {source="Orphanet:2132", source="MONDO:equivalentTo", source="Orphanet:2132/e", source="DOID:2859"} xref: NCIT:C34675 {source="MONDO:equivalentTo", source="DOID:2859"} xref: Orphanet:2132 {source="MONDO:equivalentTo"} xref: SCTID:51053007 {source="MONDO:equivalentTo", source="DOID:2859"} -xref: UMLS:C0019021 {source="Orphanet:2132", source="MONDO:equivalentTo", source="NCIT:C34675", source="DOID:2859", source="ORDO:2132/e"} +xref: UMLS:C0019021 {source="Orphanet:2132", source="MONDO:equivalentTo", source="Orphanet:2132/e", source="NCIT:C34675", source="DOID:2859"} is_a: MONDO:0002280 {source="Orphanet:2132", source="Orphanet:2132/inferred"} ! anemia is_a: MONDO:0019050 {source="DOID:2859", source="MESH:C531699/inferred", source="MESH:D006445", source="NCIT:C34675", source="Orphanet:2132", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy relationship: has_modifier MONDO:0021136 {source="MONDO:0015972"} ! rare @@ -319267,13 +319108,13 @@ synonym: "Hb-E disease" EXACT [DOID:5379] synonym: "hemoglobin E disease" EXACT [DOID:5379, NCIT:C35287] xref: DOID:5379 {source="MONDO:equivalentTo"} xref: GARD:0002641 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.2 {source="Orphanet:2133", source="DOID:5379", source="ORDO:2133/attributed", source="ORDO:2133/ntbt"} +xref: ICD10CM:D58.2 {source="Orphanet:2133", source="DOID:5379", source="Orphanet:2133/attributed", source="Orphanet:2133/ntbt"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053215 {source="Orphanet:2133", source="ORDO:2133/e"} +xref: MedDRA:10053215 {source="Orphanet:2133", source="Orphanet:2133/e"} xref: NCIT:C35287 {source="DOID:5379", source="MONDO:equivalentTo"} xref: Orphanet:2133 {source="MONDO:equivalentTo"} xref: SCTID:25065001 {source="DOID:5379", source="MONDO:equivalentTo"} -xref: UMLS:C0238159 {source="Orphanet:2133", source="ORDO:2133/e", source="DOID:5379", source="NCIT:C35287", source="MONDO:equivalentTo"} +xref: UMLS:C0238159 {source="Orphanet:2133", source="DOID:5379", source="NCIT:C35287", source="MONDO:equivalentTo", source="Orphanet:2133/e"} is_a: MONDO:0002280 {source="Orphanet:2133", source="Orphanet:2133/inferred"} ! anemia is_a: MONDO:0019050 {source="DOID:5379", source="NCIT:C35287", source="Orphanet:2133", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy relationship: has_modifier MONDO:0021136 {source="MONDO:0015972"} ! rare @@ -319296,20 +319137,20 @@ synonym: "non-diarrhea-associated hemolytic uremic syndrome" EXACT [NCIT:C123223 xref: DOID:0080301 {source="MONDO:equivalentTo"} xref: GARD:0006240 {source="MONDO:equivalentTo"} xref: GARD:0008702 {source="DOID:0080301", source="MONDO:equivalentTo"} -xref: ICD10CM:D58.8 {source="Orphanet:2134", source="ORDO:2134/attributed", source="ORDO:2134/ntbt"} -xref: MESH:C538266 {source="ORDO:2134/e", source="Orphanet:2134"} +xref: ICD10CM:D58.8 {source="Orphanet:2134/attributed", source="Orphanet:2134/ntbt", source="Orphanet:2134"} +xref: MESH:C538266 {source="Orphanet:2134", source="Orphanet:2134/e"} xref: MESH:D065766 {source="MONDO:equivalentTo"} xref: NCIT:C123223 {source="MONDO:equivalentTo"} -xref: OMIM:235400 {source="GARD:0008702", source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:609814 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:612922 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:612923 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:612924 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:612925 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:612926 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} -xref: OMIM:615008 {source="Orphanet:2134", source="MONDO:superClassOf", source="ORDO:2134/btnt"} +xref: OMIM:235400 {source="Orphanet:2134/btnt", source="GARD:0008702", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:609814 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:612922 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:612923 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:612924 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:612925 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:612926 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} +xref: OMIM:615008 {source="Orphanet:2134/btnt", source="Orphanet:2134", source="MONDO:superClassOf"} xref: Orphanet:2134 {source="GARD:0008702", source="DOID:0080301", source="MONDO:equivalentTo"} -xref: UMLS:C2931788 {source="ORDO:2134/e", source="GARD:0008702", source="Orphanet:2134", source="MONDO:equivalentTo", source="NCIT:C123223"} +xref: UMLS:C2931788 {source="GARD:0008702", source="Orphanet:2134", source="MONDO:equivalentTo", source="NCIT:C123223", source="Orphanet:2134/e"} is_a: MONDO:0001549 {source="MESH:D065766"} ! hemolytic-uremic syndrome is_a: MONDO:0002254 {source="NCIT:C123223", source="indirect"} ! syndromic disease is_a: MONDO:0003664 {source="MONDO:Redundant", source="Orphanet:2134"} ! hemolytic anemia @@ -319340,7 +319181,7 @@ subset: ordo_group_of_disorders {source="Orphanet:213517"} synonym: "familial ovarian cancer" EXACT CLINGEN_PREFERRED [] synonym: "familial ovarian malignant tumor" EXACT [Orphanet:213517] synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:C56 {source="ORDO:213517/attributed", source="ORDO:213517/ntbt", source="Orphanet:213517"} +xref: ICD10CM:C56 {source="Orphanet:213517", source="Orphanet:213517/attributed", source="Orphanet:213517/ntbt"} xref: Orphanet:213517 {source="MONDO:equivalentTo"} xref: UMLS:CN201036 {source="MONDO:equivalentTo"} intersection_of: MONDO:0008170 ! ovarian cancer @@ -319354,7 +319195,7 @@ id: MONDO:0016249 name: hereditary site-specific ovarian cancer syndrome def: "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." [Orphanet:213524] subset: ordo_disease {source="Orphanet:213524"} -xref: ICD10CM:C56 {source="Orphanet:213524", source="ORDO:213524/attributed", source="ORDO:213524/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:213524/attributed", source="Orphanet:213524/ntbt", source="Orphanet:213524"} xref: Orphanet:213524 {source="MONDO:equivalentTo"} xref: UMLS:CN201037 {source="MONDO:equivalentTo"} is_a: MONDO:0016248 {source="Orphanet:213524"} ! familial ovarian cancer @@ -319373,14 +319214,14 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 x property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12773/rare-adenocarcinoma-of-the-breast xsd:anyURI {source="GARD:0012773"} is_obsolete: true replaced_by: MONDO:0004988 -consider: ICD10CM:C50.0 {source="ORDO:213528/btnt", source="Orphanet:213528"} -consider: ICD10CM:C50.1 {source="ORDO:213528/btnt", source="Orphanet:213528"} -consider: ICD10CM:C50.2 {source="ORDO:213528/btnt", source="MONDO:relatedTo", source="Orphanet:213528"} -consider: ICD10CM:C50.3 {source="ORDO:213528/btnt", source="MONDO:relatedTo", source="Orphanet:213528"} -consider: ICD10CM:C50.4 {source="ORDO:213528/btnt", source="Orphanet:213528"} -consider: ICD10CM:C50.5 {source="ORDO:213528/btnt", source="Orphanet:213528"} -consider: ICD10CM:C50.6 {source="ORDO:213528/btnt", source="MONDO:relatedTo", source="Orphanet:213528"} -consider: ICD10CM:C50.8 {source="ORDO:213528/btnt", source="Orphanet:213528"} +consider: ICD10CM:C50.0 {source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.1 {source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.2 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.3 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.4 {source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.5 {source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.6 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"} +consider: ICD10CM:C50.8 {source="Orphanet:213528", source="Orphanet:213528/btnt"} consider: UMLS:C0858252 {source="Orphanet:213528"} [Term] @@ -319392,14 +319233,14 @@ subset: gard_rare {source="GARD:0012774"} subset: ordo_disease {source="Orphanet:213557"} synonym: "salivary gland type carcinoma of the breast" EXACT [Orphanet:213557] xref: GARD:0012774 {source="MONDO:equivalentTo"} -xref: ICD10CM:C50.0 {source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.1 {source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.2 {source="MONDO:relatedTo", source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.3 {source="MONDO:relatedTo", source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.4 {source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.5 {source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.6 {source="MONDO:relatedTo", source="Orphanet:213557", source="ORDO:213557/btnt"} -xref: ICD10CM:C50.8 {source="Orphanet:213557", source="ORDO:213557/btnt"} +xref: ICD10CM:C50.0 {source="Orphanet:213557/btnt", source="Orphanet:213557"} +xref: ICD10CM:C50.1 {source="Orphanet:213557/btnt", source="Orphanet:213557"} +xref: ICD10CM:C50.2 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"} +xref: ICD10CM:C50.3 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"} +xref: ICD10CM:C50.4 {source="Orphanet:213557/btnt", source="Orphanet:213557"} +xref: ICD10CM:C50.5 {source="Orphanet:213557/btnt", source="Orphanet:213557"} +xref: ICD10CM:C50.6 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"} +xref: ICD10CM:C50.8 {source="Orphanet:213557/btnt", source="Orphanet:213557"} xref: Orphanet:213557 {source="MONDO:equivalentTo"} xref: SCTID:716593008 {source="MONDO:equivalentTo"} is_a: MONDO:0007254 {source="Orphanet:213557"} ! breast cancer @@ -319440,7 +319281,7 @@ consider: UMLS:C0153574 {source="Orphanet:213569"} id: MONDO:0016254 name: obsolete rare variants of adenocarcinoma of the corpus uteri subset: ordo_disease {source="Orphanet:213574"} -xref: ICD10CM:C54.1 {source="Orphanet:213574", source="ORDO:213574/ntbt"} +xref: ICD10CM:C54.1 {source="Orphanet:213574", source="Orphanet:213574/ntbt"} xref: Orphanet:213574 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201043 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 "out of scope" xsd:string @@ -319461,11 +319302,11 @@ synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELA synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [Orphanet:213589] synonym: "uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40181] synonym: "uterine corpus mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40181] -xref: ICD10CM:C54.0 {source="Orphanet:213589", source="ORDO:213589/btnt"} -xref: ICD10CM:C54.1 {source="Orphanet:213589", source="ORDO:213589/btnt"} -xref: ICD10CM:C54.2 {source="Orphanet:213589", source="ORDO:213589/btnt"} -xref: ICD10CM:C54.3 {source="Orphanet:213589", source="ORDO:213589/btnt"} -xref: ICD10CM:C54.8 {source="Orphanet:213589", source="ORDO:213589/btnt"} +xref: ICD10CM:C54.0 {source="Orphanet:213589/btnt", source="Orphanet:213589"} +xref: ICD10CM:C54.1 {source="Orphanet:213589/btnt", source="Orphanet:213589"} +xref: ICD10CM:C54.2 {source="Orphanet:213589/btnt", source="Orphanet:213589"} +xref: ICD10CM:C54.3 {source="Orphanet:213589/btnt", source="Orphanet:213589"} +xref: ICD10CM:C54.8 {source="Orphanet:213589/btnt", source="Orphanet:213589"} xref: NCIT:C40181 {source="MONDO:equivalentTo"} xref: Orphanet:213589 {source="MONDO:equivalentTo"} xref: UMLS:C1519858 {source="NCIT:C40181", source="MONDO:equivalentTo"} @@ -319488,15 +319329,15 @@ synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [DO synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT [Orphanet:2136] xref: DOID:0060366 {source="MONDO:equivalentTo"} xref: GARD:0003318 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:2136", source="ORDO:2136/attributed", source="ORDO:2136/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2136/attributed", source="Orphanet:2136/ntbt", source="Orphanet:2136"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537255 {source="DOID:0060366"} -xref: OMIM:235510 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf", source="ORDO:2136/btnt"} -xref: OMIM:616006 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf", source="ORDO:2136/btnt"} +xref: OMIM:235510 {source="Orphanet:2136/btnt", source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf"} +xref: OMIM:616006 {source="Orphanet:2136/btnt", source="DOID:0060366", source="Orphanet:2136", source="MONDO:superClassOf"} xref: OMIMPS:235510 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="DOID:0060366", source="MONDO:equivalentTo"} xref: SCTID:234146006 {source="DOID:0060366", source="MONDO:equivalentTo"} -xref: UMLS:C0340834 {source="ORDO:2136/e", source="DOID:0060366", source="Orphanet:2136", source="MONDO:equivalentTo"} +xref: UMLS:C0340834 {source="DOID:0060366", source="Orphanet:2136", source="MONDO:equivalentTo", source="Orphanet:2136/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2136", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2136"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity @@ -319521,11 +319362,11 @@ def: "An uncommon malignant neoplasm arising from the uterine corpus. It is char subset: ordo_disease {source="Orphanet:213605"} synonym: "Carcinofibroma of the corpus uteri" RELATED [Orphanet:213605] synonym: "uterine corpus Carcinofibroma" EXACT [NCIT:C40182] -xref: ICD10CM:C54.0 {source="ORDO:213605/btnt", source="Orphanet:213605"} -xref: ICD10CM:C54.1 {source="ORDO:213605/btnt", source="Orphanet:213605"} -xref: ICD10CM:C54.2 {source="ORDO:213605/btnt", source="Orphanet:213605"} -xref: ICD10CM:C54.3 {source="ORDO:213605/btnt", source="Orphanet:213605"} -xref: ICD10CM:C54.8 {source="ORDO:213605/btnt", source="Orphanet:213605"} +xref: ICD10CM:C54.0 {source="Orphanet:213605", source="Orphanet:213605/btnt"} +xref: ICD10CM:C54.1 {source="Orphanet:213605", source="Orphanet:213605/btnt"} +xref: ICD10CM:C54.2 {source="Orphanet:213605", source="Orphanet:213605/btnt"} +xref: ICD10CM:C54.3 {source="Orphanet:213605", source="Orphanet:213605/btnt"} +xref: ICD10CM:C54.8 {source="Orphanet:213605", source="Orphanet:213605/btnt"} xref: ICDO:8934/3 {source="NCIT:C40182"} xref: NCIT:C40182 {source="MONDO:equivalentTo"} xref: Orphanet:213605 {source="MONDO:equivalentTo"} @@ -319587,7 +319428,7 @@ synonym: "uterine malignant mixed mesodermal tumor" EXACT [NCIT:C9180] synonym: "uterine mixed Mullerian sarcoma" EXACT [NCIT:C9180] synonym: "uterine mixed Müllerian sarcoma" EXACT [NCIT:C9180] xref: GARD:0012335 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C54.9 {source="Orphanet:213610", source="ORDO:213610/ntbt"} +xref: ICD10CM:C54.9 {source="Orphanet:213610", source="Orphanet:213610/ntbt"} xref: NCIT:C9180 {source="DesignPattern", source="MONDO:equivalentTo"} xref: Orphanet:213610 {source="MONDO:equivalentTo"} xref: UMLS:C1704376 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C9180"} @@ -319608,7 +319449,7 @@ synonym: "body of uterus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/locat synonym: "rhabdomyosarcoma (disease) of body of uterus" EXACT [] synonym: "rhabdomyosarcoma of the corpus uteri" RELATED [Orphanet:213615] synonym: "uterine corpus rhabdomyosarcoma" EXACT [NCIT:C127058] -xref: ICD10CM:C54.2 {source="ORDO:213615/ntbt", source="Orphanet:213615"} +xref: ICD10CM:C54.2 {source="Orphanet:213615", source="Orphanet:213615/ntbt"} xref: NCIT:C127058 {source="MONDO:equivalentTo"} xref: Orphanet:213615 {source="MONDO:equivalentTo"} xref: UMLS:C4288047 {source="MONDO:equivalentTo"} @@ -319646,7 +319487,7 @@ synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS] synonym: "uterus leiomyosarcoma" RELATED [DOID:5289] xref: DOID:5289 {source="MONDO:equivalentTo"} -xref: ICD10CM:C54.2 {source="ORDO:213625/ntbt", source="Orphanet:213625"} +xref: ICD10CM:C54.2 {source="Orphanet:213625", source="Orphanet:213625/ntbt"} xref: NCIT:C6340 {source="DOID:5289", source="DesignPattern", source="MONDO:equivalentTo"} xref: ONCOTREE:ULMS {source="MONDO:equivalentTo"} xref: Orphanet:213625 {source="MONDO:equivalentTo"} @@ -319666,11 +319507,11 @@ synonym: "body of uterus primitive neuroectodermal tumor" EXACT [MONDO:patterns/ synonym: "malignant peripheral neuroectodermal tumor of the corpus uteri" EXACT [Orphanet:213630] synonym: "peripheral neuroectodermal cancer of the corpus uteri" EXACT [Orphanet:213630] synonym: "primitive neuroectodermal tumor of body of uterus" EXACT [] -xref: ICD10CM:C54.0 {source="Orphanet:213630", source="ORDO:213630/btnt"} -xref: ICD10CM:C54.1 {source="Orphanet:213630", source="ORDO:213630/btnt"} -xref: ICD10CM:C54.2 {source="Orphanet:213630", source="ORDO:213630/btnt"} -xref: ICD10CM:C54.3 {source="Orphanet:213630", source="ORDO:213630/btnt"} -xref: ICD10CM:C54.8 {source="Orphanet:213630", source="ORDO:213630/btnt"} +xref: ICD10CM:C54.0 {source="Orphanet:213630", source="Orphanet:213630/btnt"} +xref: ICD10CM:C54.1 {source="Orphanet:213630", source="Orphanet:213630/btnt"} +xref: ICD10CM:C54.2 {source="Orphanet:213630", source="Orphanet:213630/btnt"} +xref: ICD10CM:C54.3 {source="Orphanet:213630", source="Orphanet:213630/btnt"} +xref: ICD10CM:C54.8 {source="Orphanet:213630", source="Orphanet:213630/btnt"} xref: Orphanet:213630 {source="MONDO:equivalentTo"} xref: UMLS:CN201052 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005462 ! primitive neuroectodermal tumor @@ -319692,9 +319533,9 @@ synonym: "chronic autoimmune hepatitis" EXACT [Orphanet:2137] xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"} xref: EFO:0005676 {source="MONDO:equivalentTo"} xref: GARD:0005871 {source="MONDO:equivalentTo"} -xref: ICD10CM:K75.4 {source="DOID:2048", source="Orphanet:2137", source="ORDO:2137/e", source="MONDO:equivalentTo"} +xref: ICD10CM:K75.4 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="Orphanet:2137/e"} xref: ICD9:571.42 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10003827 {source="Orphanet:2137", source="ORDO:2137/e"} +xref: MedDRA:10003827 {source="Orphanet:2137", source="Orphanet:2137/e"} xref: MESH:D019693 {source="DOID:2048", source="MONDO:equivalentTo"} xref: NCIT:C27029 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"} xref: NCIT:C27778 {source="DOID:2048"} @@ -319703,7 +319544,7 @@ xref: Orphanet:2137 {source="MONDO:equivalentTo"} xref: SCTID:197284004 {source="DOID:2048", source="MONDO:superClassOf"} xref: SCTID:408335007 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"} xref: SCTID:68784009 {source="DOID:2048"} -xref: UMLS:C0241910 {source="DOID:2048", source="Orphanet:2137", source="ORDO:2137/e", source="MONDO:equivalentTo", source="NCIT:C27029", source="GARD:0005871"} +xref: UMLS:C0241910 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="NCIT:C27029", source="Orphanet:2137/e", source="GARD:0005871"} xref: UMLS:C1332355 {source="DOID:2048", source="MONDO:equivalentTo"} is_a: MONDO:0000588 {source="DOID:2048", source="MONDO:Entailed"} ! autoimmune disorder of gastrointestinal tract is_a: MONDO:0002251 {source="MESH:D019693/inferred", source="MONDO:Redundant", source="NCIT:C27029"} ! hepatitis @@ -319725,7 +319566,7 @@ def: "A squamous cell carcinoma that involves the body of uterus." [MONDO:patter subset: ordo_disease {source="Orphanet:213716"} synonym: "body of uterus squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial squamous cell carcinoma" RELATED [Orphanet:213716] -xref: ICD10CM:C50 {source="MONDO:relatedTo", source="ORDO:213716/ntbt", source="Orphanet:213716"} +xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:213716/ntbt", source="Orphanet:213716"} xref: Orphanet:213716 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213716"} ! cancer intersection_of: MONDO:0005096 ! squamous cell carcinoma @@ -319739,7 +319580,7 @@ def: "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus subset: ordo_disease {source="Orphanet:213721"} synonym: "body of uterus undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial undifferentiated carcinoma" EXACT [Orphanet:213721] -xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:213721", source="ORDO:213721/ntbt"} +xref: ICD10CM:C50 {source="Orphanet:213721/ntbt", source="MONDO:relatedTo", source="Orphanet:213721"} xref: Orphanet:213721 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213721"} ! cancer intersection_of: MONDO:0005617 ! undifferentiated carcinoma @@ -319754,7 +319595,7 @@ comment: Editor note: check relationship to MONDO:0006196 subset: ordo_disease {source="Orphanet:213726"} synonym: "body of uterus papillary carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial capillary carcinoma" EXACT [Orphanet:213726] -xref: ICD10CM:C54.1 {source="ORDO:213726/ntbt", source="Orphanet:213726"} +xref: ICD10CM:C54.1 {source="Orphanet:213726", source="Orphanet:213726/ntbt"} xref: Orphanet:213726 {source="MONDO:equivalentTo"} xref: UMLS:CN201057 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213726"} ! cancer @@ -319770,11 +319611,11 @@ subset: ordo_disease {source="Orphanet:213731"} synonym: "high-grade neuroendocrine carcinoma of the uterine corpus" EXACT [Orphanet:213731] synonym: "poorly differentiated neuroendocrine carcinoma of the corpus uteri" EXACT [Orphanet:213731] synonym: "poorly differentiated neuroendocrine carcinoma of the endometrium" EXACT [Orphanet:213731] -xref: ICD10CM:C54.0 {source="Orphanet:213731", source="ORDO:213731/btnt"} -xref: ICD10CM:C54.1 {source="Orphanet:213731", source="ORDO:213731/btnt"} -xref: ICD10CM:C54.2 {source="Orphanet:213731", source="ORDO:213731/btnt"} -xref: ICD10CM:C54.3 {source="Orphanet:213731", source="ORDO:213731/btnt"} -xref: ICD10CM:C54.8 {source="Orphanet:213731", source="ORDO:213731/btnt"} +xref: ICD10CM:C54.0 {source="Orphanet:213731", source="Orphanet:213731/btnt"} +xref: ICD10CM:C54.1 {source="Orphanet:213731", source="Orphanet:213731/btnt"} +xref: ICD10CM:C54.2 {source="Orphanet:213731", source="Orphanet:213731/btnt"} +xref: ICD10CM:C54.3 {source="Orphanet:213731", source="Orphanet:213731/btnt"} +xref: ICD10CM:C54.8 {source="Orphanet:213731", source="Orphanet:213731/btnt"} xref: Orphanet:213731 {source="MONDO:equivalentTo"} xref: UMLS:CN201058 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213731"} ! cancer @@ -319790,11 +319631,11 @@ synonym: "low-grade neuroendocrine tumor of the uterine corpus" EXACT [Orphanet: synonym: "well-differentiated neuroendocrine neoplasm of the endometrium" EXACT [Orphanet:213736] synonym: "well-differentiated neuroendocrine tumor of the corpus uteri" EXACT [Orphanet:213736] synonym: "well-differentiated neuroendocrine tumor of the endometrium" EXACT [Orphanet:213736] -xref: ICD10CM:C54.0 {source="ORDO:213736/btnt", source="Orphanet:213736"} -xref: ICD10CM:C54.1 {source="ORDO:213736/btnt", source="Orphanet:213736"} -xref: ICD10CM:C54.2 {source="ORDO:213736/btnt", source="Orphanet:213736"} -xref: ICD10CM:C54.3 {source="ORDO:213736/btnt", source="Orphanet:213736"} -xref: ICD10CM:C54.8 {source="ORDO:213736/btnt", source="Orphanet:213736"} +xref: ICD10CM:C54.0 {source="Orphanet:213736", source="Orphanet:213736/btnt"} +xref: ICD10CM:C54.1 {source="Orphanet:213736", source="Orphanet:213736/btnt"} +xref: ICD10CM:C54.2 {source="Orphanet:213736", source="Orphanet:213736/btnt"} +xref: ICD10CM:C54.3 {source="Orphanet:213736", source="Orphanet:213736/btnt"} +xref: ICD10CM:C54.8 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: Orphanet:213736 {source="MONDO:equivalentTo"} xref: UMLS:CN201059 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213736"} ! cancer @@ -319808,11 +319649,11 @@ def: "A adenoid cystic carcinoma that involves the body of uterus." [MONDO:patte subset: ordo_disease {source="Orphanet:213741"} synonym: "body of uterus adenoid cystic carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial adenoid cystic carcinoma" EXACT [Orphanet:213741] -xref: ICD10CM:C54.0 {source="Orphanet:213741", source="ORDO:213741/btnt"} -xref: ICD10CM:C54.1 {source="Orphanet:213741", source="ORDO:213741/btnt"} -xref: ICD10CM:C54.2 {source="Orphanet:213741", source="ORDO:213741/btnt"} -xref: ICD10CM:C54.3 {source="Orphanet:213741", source="ORDO:213741/btnt"} -xref: ICD10CM:C54.8 {source="Orphanet:213741", source="ORDO:213741/btnt"} +xref: ICD10CM:C54.0 {source="Orphanet:213741/btnt", source="Orphanet:213741"} +xref: ICD10CM:C54.1 {source="Orphanet:213741/btnt", source="Orphanet:213741"} +xref: ICD10CM:C54.2 {source="Orphanet:213741/btnt", source="Orphanet:213741"} +xref: ICD10CM:C54.3 {source="Orphanet:213741/btnt", source="Orphanet:213741"} +xref: ICD10CM:C54.8 {source="Orphanet:213741/btnt", source="Orphanet:213741"} xref: Orphanet:213741 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213741"} ! cancer intersection_of: MONDO:0004971 ! adenoid cystic carcinoma @@ -319826,7 +319667,7 @@ def: "A transitional cell carcinoma that involves the body of uterus." [MONDO:pa subset: ordo_disease {source="Orphanet:213746"} synonym: "body of uterus transitional cell carcinoma" EXACT [MONDO:patterns/location] synonym: "endometrial transitional cell carcinoma" EXACT [Orphanet:213746] -xref: ICD10CM:C54.1 {source="ORDO:213746/ntbt", source="Orphanet:213746"} +xref: ICD10CM:C54.1 {source="Orphanet:213746", source="Orphanet:213746/ntbt"} xref: Orphanet:213746 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213746"} ! cancer intersection_of: MONDO:0006474 ! transitional cell carcinoma @@ -319842,11 +319683,11 @@ synonym: "body of uterus malignant germ cell tumor" EXACT [MONDO:patterns/locati synonym: "germ cell cancer of corpus uteri" EXACT [Orphanet:213751] synonym: "germ cell cancer of the corpus uteri" EXACT [Orphanet:213751] synonym: "malignant germ cell tumor of the corpus uteri" RELATED [Orphanet:213751] -xref: ICD10CM:C54.0 {source="Orphanet:213751", source="ORDO:213751/btnt"} -xref: ICD10CM:C54.1 {source="Orphanet:213751", source="ORDO:213751/btnt"} -xref: ICD10CM:C54.2 {source="Orphanet:213751", source="ORDO:213751/btnt"} -xref: ICD10CM:C54.3 {source="Orphanet:213751", source="ORDO:213751/btnt"} -xref: ICD10CM:C54.8 {source="Orphanet:213751", source="ORDO:213751/btnt"} +xref: ICD10CM:C54.0 {source="Orphanet:213751", source="Orphanet:213751/btnt"} +xref: ICD10CM:C54.1 {source="Orphanet:213751", source="Orphanet:213751/btnt"} +xref: ICD10CM:C54.2 {source="Orphanet:213751", source="Orphanet:213751/btnt"} +xref: ICD10CM:C54.3 {source="Orphanet:213751", source="Orphanet:213751/btnt"} +xref: ICD10CM:C54.8 {source="Orphanet:213751", source="Orphanet:213751/btnt"} xref: Orphanet:213751 {source="MONDO:equivalentTo"} xref: UMLS:CN201062 {source="MONDO:equivalentTo"} is_a: MONDO:0004992 {source="Orphanet:213751"} ! cancer @@ -319879,9 +319720,9 @@ def: "A adenocarcinoma that involves the uterine cervix." [MONDO:patterns/locati subset: ordo_disease {source="Orphanet:213772"} synonym: "cervical adenocarcinoma" BROAD [Orphanet:213772] synonym: "uterine cervix adenocarcinoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="Orphanet:213772", source="MONDO:relatedTo", source="ORDO:213772/btnt"} -xref: ICD10CM:C53.1 {source="Orphanet:213772", source="ORDO:213772/btnt"} -xref: ICD10CM:C53.8 {source="Orphanet:213772", source="ORDO:213772/btnt"} +xref: ICD10CM:C53.0 {source="Orphanet:213772", source="MONDO:relatedTo", source="Orphanet:213772/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213772", source="Orphanet:213772/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213772", source="Orphanet:213772/btnt"} xref: Orphanet:213772 {source="MONDO:equivalentTo"} xref: UMLS:C0279672 {source="Orphanet:213772", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002974 {source="Orphanet:213772"} ! cervical cancer @@ -319897,9 +319738,9 @@ subset: ordo_disease {source="Orphanet:213777"} synonym: "high-grade neuroendocrine carcinoma of the uterine cervix" EXACT [Orphanet:213777] synonym: "poorly differentiated neuroendocrine carcinoma of the cervix uteri" EXACT [Orphanet:213777] synonym: "poorly differentiated neuroendocrine cervical carcinoma" EXACT [Orphanet:213777] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213777", source="ORDO:213777/btnt"} -xref: ICD10CM:C53.1 {source="Orphanet:213777", source="ORDO:213777/btnt"} -xref: ICD10CM:C53.8 {source="Orphanet:213777", source="ORDO:213777/btnt"} +xref: ICD10CM:C53.0 {source="Orphanet:213777/btnt", source="MONDO:relatedTo", source="Orphanet:213777"} +xref: ICD10CM:C53.1 {source="Orphanet:213777/btnt", source="Orphanet:213777"} +xref: ICD10CM:C53.8 {source="Orphanet:213777/btnt", source="Orphanet:213777"} xref: Orphanet:213777 {source="MONDO:equivalentTo"} xref: UMLS:CN201066 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="Orphanet:213777"} ! cervical cancer @@ -319912,9 +319753,9 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213782"} synonym: "cervical malignant mixed epithelial and mesenchymal tumor" EXACT [Orphanet:213782] synonym: "mixed epithelial and mesenchymal cancer of cervix uteri" EXACT [Orphanet:213782] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213782/btnt", source="Orphanet:213782"} -xref: ICD10CM:C53.1 {source="ORDO:213782/btnt", source="Orphanet:213782"} -xref: ICD10CM:C53.8 {source="ORDO:213782/btnt", source="Orphanet:213782"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213782/btnt", source="Orphanet:213782"} +xref: ICD10CM:C53.1 {source="Orphanet:213782/btnt", source="Orphanet:213782"} +xref: ICD10CM:C53.8 {source="Orphanet:213782/btnt", source="Orphanet:213782"} xref: Orphanet:213782 {source="MONDO:equivalentTo"} xref: UMLS:CN201067 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="Orphanet:213782"} ! cervical cancer @@ -319945,9 +319786,9 @@ synonym: "cervical sarcoma" EXACT [Orphanet:213797] synonym: "malignant mesenchymal tumor of cervix uteri" EXACT [Orphanet:213797] synonym: "sarcoma of uterine cervix" EXACT [MONDO:patterns/sarcoma] synonym: "uterine cervix sarcoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="Orphanet:213797", source="MONDO:relatedTo", source="ORDO:213797/btnt"} -xref: ICD10CM:C53.1 {source="Orphanet:213797", source="ORDO:213797/btnt"} -xref: ICD10CM:C53.8 {source="Orphanet:213797", source="ORDO:213797/btnt"} +xref: ICD10CM:C53.0 {source="Orphanet:213797", source="MONDO:relatedTo", source="Orphanet:213797/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213797", source="Orphanet:213797/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213797", source="Orphanet:213797/btnt"} xref: Orphanet:213797 {source="MONDO:equivalentTo"} xref: UMLS:CN201070 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="Orphanet:213797"} ! cervical cancer @@ -319965,14 +319806,14 @@ synonym: "ovotesticular differences of Sex development" EXACT [NCIT:C127167] synonym: "ovotesticular disorders of Sex development" EXACT [NCIT:C127167] synonym: "ovotesticular DSD" EXACT [NCIT:C127167] synonym: "true hermaphroditism" EXACT [Orphanet:2138] -xref: ICD10CM:Q56.0 {source="ORDO:2138/attributed", source="ORDO:2138/ntbt", source="Orphanet:2138"} -xref: MESH:D050090 {source="ORDO:2138/e", source="MONDO:equivalentTo", source="Orphanet:2138"} +xref: ICD10CM:Q56.0 {source="Orphanet:2138", source="Orphanet:2138/attributed", source="Orphanet:2138/ntbt"} +xref: MESH:D050090 {source="MONDO:equivalentTo", source="Orphanet:2138", source="Orphanet:2138/e"} xref: NCIT:C127167 {source="MONDO:equivalentTo"} -xref: OMIM:400045 {source="MONDO:subClassOf", source="ORDO:2138/ntbt", source="Orphanet:2138", source="MONDO:directSiblingOf"} +xref: OMIM:400045 {source="MONDO:subClassOf", source="Orphanet:2138", source="MONDO:directSiblingOf", source="Orphanet:2138/ntbt"} xref: Orphanet:2138 {source="MONDO:equivalentTo"} xref: SCTID:18978002 {source="MONDO:equivalentTo"} xref: UMLS:C0266361 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2138"} -xref: UMLS:C2748895 {source="ORDO:2138/e", source="NCIT:C127167", source="MONDO:equivalentTo", source="Orphanet:2138"} +xref: UMLS:C2748895 {source="NCIT:C127167", source="MONDO:equivalentTo", source="Orphanet:2138", source="Orphanet:2138/e"} xref: UMLS:CN776920 {source="MONDO:equivalentTo"} is_a: MONDO:0002145 {source="MESH:D050090", source="MONDO:Redundant", source="NCIT:C127167", source="Orphanet:2138/inferred"} ! difference of sexual differentiation is_a: MONDO:0017961 {source="Orphanet:2138"} ! 46,XX disorder of gonadal development @@ -319989,9 +319830,9 @@ synonym: "cervical rhabdomyosarcoma" EXACT [NCIT:C128048, Orphanet:213802] synonym: "rhabdomyosarcoma (disease) of uterine cervix" EXACT [] synonym: "uterine cervix rhabdomyosarcoma" EXACT [] synonym: "uterine cervix rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213802/btnt", source="Orphanet:213802"} -xref: ICD10CM:C53.1 {source="ORDO:213802/btnt", source="Orphanet:213802"} -xref: ICD10CM:C53.8 {source="ORDO:213802/btnt", source="Orphanet:213802"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213802", source="Orphanet:213802/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213802", source="Orphanet:213802/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213802", source="Orphanet:213802/btnt"} xref: NCIT:C128048 {source="MONDO:equivalentTo"} xref: ONCOTREE:CERMS {source="MONDO:equivalentTo"} xref: Orphanet:213802 {source="MONDO:equivalentTo"} @@ -320013,9 +319854,9 @@ synonym: "CELI" RELATED ABBREVIATION [ONCOTREE:CELI] synonym: "cervical leiomyosarcoma" EXACT [NCIT:C128047, Orphanet:213807] synonym: "leiomyosarcoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix leiomyosarcoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213807", source="ORDO:213807/btnt"} -xref: ICD10CM:C53.1 {source="Orphanet:213807", source="ORDO:213807/btnt"} -xref: ICD10CM:C53.8 {source="Orphanet:213807", source="ORDO:213807/btnt"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213807/btnt", source="Orphanet:213807"} +xref: ICD10CM:C53.1 {source="Orphanet:213807/btnt", source="Orphanet:213807"} +xref: ICD10CM:C53.8 {source="Orphanet:213807/btnt", source="Orphanet:213807"} xref: NCIT:C128047 {source="MONDO:equivalentTo"} xref: ONCOTREE:CELI {source="MONDO:equivalentTo"} xref: Orphanet:213807 {source="MONDO:equivalentTo"} @@ -320037,9 +319878,9 @@ synonym: "cervical malignant peripheral neuroectodermal tumor" EXACT [Orphanet:2 synonym: "cervical peripheral neuroectodermal cancer" EXACT [Orphanet:213812] synonym: "malignant peripheral neuroectodermal tumor of the cervix uteri" EXACT [Orphanet:213812] synonym: "peripheral neuroectodermal cancer of cervix uteri" EXACT [Orphanet:213812] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213812/btnt", source="Orphanet:213812"} -xref: ICD10CM:C53.1 {source="ORDO:213812/btnt", source="Orphanet:213812"} -xref: ICD10CM:C53.8 {source="ORDO:213812/btnt", source="Orphanet:213812"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213812", source="Orphanet:213812/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213812", source="Orphanet:213812/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213812", source="Orphanet:213812/btnt"} xref: Orphanet:213812 {source="MONDO:equivalentTo"} xref: UMLS:CN201074 {source="MONDO:equivalentTo"} is_a: MONDO:0016280 {source="Orphanet:213812"} ! sarcoma of cervix uteri @@ -320051,9 +319892,9 @@ def: "A papillary carcinoma that involves the uterine cervix." [MONDO:patterns/l subset: ordo_disease {source="Orphanet:213817"} synonym: "cervical papillary carcinoma" EXACT [Orphanet:213817] synonym: "uterine cervix papillary carcinoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="ORDO:213817/btnt", source="MONDO:relatedTo", source="Orphanet:213817"} -xref: ICD10CM:C53.1 {source="ORDO:213817/btnt", source="Orphanet:213817"} -xref: ICD10CM:C53.8 {source="ORDO:213817/btnt", source="Orphanet:213817"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213817/btnt", source="Orphanet:213817"} +xref: ICD10CM:C53.1 {source="Orphanet:213817/btnt", source="Orphanet:213817"} +xref: ICD10CM:C53.8 {source="Orphanet:213817/btnt", source="Orphanet:213817"} xref: Orphanet:213817 {source="MONDO:equivalentTo"} xref: UMLS:CN201075 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="Orphanet:213817"} ! cervical cancer @@ -320068,9 +319909,9 @@ def: "A adenoid cystic carcinoma that involves the uterine cervix." [MONDO:patte subset: ordo_disease {source="Orphanet:213823"} synonym: "cervical adenoid cystic carcinoma" BROAD [Orphanet:213823] synonym: "uterine cervix adenoid cystic carcinoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213823/btnt", source="Orphanet:213823"} -xref: ICD10CM:C53.1 {source="ORDO:213823/btnt", source="Orphanet:213823"} -xref: ICD10CM:C53.8 {source="ORDO:213823/btnt", source="Orphanet:213823"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213823", source="Orphanet:213823/btnt"} +xref: ICD10CM:C53.1 {source="Orphanet:213823", source="Orphanet:213823/btnt"} +xref: ICD10CM:C53.8 {source="Orphanet:213823", source="Orphanet:213823/btnt"} xref: Orphanet:213823 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="Orphanet:213823", source="indirect"} ! cervical cancer intersection_of: MONDO:0004971 ! adenoid cystic carcinoma @@ -320085,9 +319926,9 @@ subset: ordo_disease {source="Orphanet:213828"} synonym: "cervical adenoid basal carcinoma" EXACT [Orphanet:213828] synonym: "skin adenoid basal cell carcinoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix skin adenoid basal cell carcinoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="ORDO:213828/btnt", source="MONDO:relatedTo", source="Orphanet:213828"} -xref: ICD10CM:C53.1 {source="ORDO:213828/btnt", source="Orphanet:213828"} -xref: ICD10CM:C53.8 {source="ORDO:213828/btnt", source="Orphanet:213828"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213828/btnt", source="Orphanet:213828"} +xref: ICD10CM:C53.1 {source="Orphanet:213828/btnt", source="Orphanet:213828"} +xref: ICD10CM:C53.8 {source="Orphanet:213828/btnt", source="Orphanet:213828"} xref: Orphanet:213828 {source="MONDO:equivalentTo"} xref: UMLS:CN201077 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="MONDO:Redundant", source="Orphanet:213828"} ! cervical cancer @@ -320112,9 +319953,9 @@ synonym: "germ cell cancer of cervix uteri" EXACT [Orphanet:213837] synonym: "germ cell cancer of the cervix uteri" EXACT [Orphanet:213837] synonym: "malignant germ cell tumor of the cervix uteri" RELATED [Orphanet:213837] synonym: "uterine cervix malignant germ cell tumor" EXACT [MONDO:patterns/location] -xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="ORDO:213837/btnt", source="Orphanet:213837"} -xref: ICD10CM:C53.1 {source="ORDO:213837/btnt", source="Orphanet:213837"} -xref: ICD10CM:C53.8 {source="ORDO:213837/btnt", source="Orphanet:213837"} +xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213837/btnt", source="Orphanet:213837"} +xref: ICD10CM:C53.1 {source="Orphanet:213837/btnt", source="Orphanet:213837"} +xref: ICD10CM:C53.8 {source="Orphanet:213837/btnt", source="Orphanet:213837"} xref: Orphanet:213837 {source="MONDO:equivalentTo"} xref: UMLS:CN201079 {source="MONDO:equivalentTo"} is_a: MONDO:0002974 {source="Orphanet:213837"} ! cervical cancer @@ -320131,11 +319972,11 @@ synonym: "Ehlers-Danlos syndrome with progeroid facies and mild intellectual dis synonym: "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" RELATED DEPRECATED [MESH:C538112] synonym: "intellectual disability-epilepsy-bulbous nose syndrome" EXACT [Orphanet:2139] xref: GARD:0003491 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2139/attributed", source="ORDO:2139/ntbt", source="Orphanet:2139"} -xref: MESH:C538112 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="Orphanet:2139", source="ORDO:2139/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2139", source="Orphanet:2139/attributed", source="Orphanet:2139/ntbt"} +xref: MESH:C538112 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="Orphanet:2139", source="Orphanet:2139/e"} xref: Orphanet:2139 {source="MONDO:equivalentTo"} xref: SCTID:721146009 {source="MONDO:equivalentTo"} -xref: UMLS:C2931736 {source="Orphanet:2139", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2139/e"} +xref: UMLS:C2931736 {source="Orphanet:2139", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2139/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2139", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:0022314/inferred", source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2139"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -320152,7 +319993,7 @@ subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2145"} synonym: "Herrmann Opitz craniosynostosis" RELATED [GARD:0002671] xref: GARD:0002671 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:2145", source="ORDO:2145/attributed", source="ORDO:2145/ntbt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:2145/attributed", source="Orphanet:2145/ntbt", source="Orphanet:2145"} xref: Orphanet:2145 {source="MONDO:equivalentTo"} xref: UMLS:CN226893 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:2145"} ! syndromic craniosynostosis @@ -320165,12 +320006,12 @@ synonym: "genetic nodular heterotopia" EXACT [MONDO:cjm] synonym: "hereditary nodular heterotopia" RELATED [GARD:0002661] synonym: "nodular heterotopia" EXACT [] xref: GARD:0002661 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="ORDO:2149/attributed", source="ORDO:2149/ntbt", source="Orphanet:2149"} -xref: OMIM:300049 {source="MONDO:superClassOf", source="ORDO:2149/btnt", source="Orphanet:2149"} -xref: OMIM:608097 {source="MONDO:superClassOf", source="ORDO:2149/btnt", source="Orphanet:2149"} -xref: OMIM:608098 {source="MONDO:superClassOf", source="ORDO:2149/btnt", source="Orphanet:2149"} -xref: OMIM:612881 {source="MONDO:superClassOf", source="ORDO:2149/btnt", source="Orphanet:2149"} -xref: OMIM:615544 {source="MONDO:superClassOf", source="ORDO:2149/btnt", source="Orphanet:2149"} +xref: ICD10CM:Q04.8 {source="Orphanet:2149", source="Orphanet:2149/attributed", source="Orphanet:2149/ntbt"} +xref: OMIM:300049 {source="MONDO:superClassOf", source="Orphanet:2149", source="Orphanet:2149/btnt"} +xref: OMIM:608097 {source="MONDO:superClassOf", source="Orphanet:2149", source="Orphanet:2149/btnt"} +xref: OMIM:608098 {source="MONDO:superClassOf", source="Orphanet:2149", source="Orphanet:2149/btnt"} +xref: OMIM:612881 {source="MONDO:superClassOf", source="Orphanet:2149", source="Orphanet:2149/btnt"} +xref: OMIM:615544 {source="MONDO:superClassOf", source="Orphanet:2149", source="Orphanet:2149/btnt"} xref: OMIM:617201 {source="MONDO:superClassOf", source="Orphanet:2149"} xref: Orphanet:2149 {source="MONDO:equivalentTo"} xref: SCTID:253151003 {source="MONDO:equivalentTo"} @@ -320185,23 +320026,23 @@ subset: ordo_disease {source="Orphanet:215"} synonym: "congenital essential nyctalopia" EXACT [DOID:0050534, Orphanet:215] synonym: "night blindness, congenital stationary" EXACT [OMIMPS:310500] xref: DOID:0050534 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.6 {source="MONDO:subClassOf", source="Orphanet:215", source="ORDO:215/attributed", source="ORDO:215/ntbt"} +xref: ICD10CM:H53.6 {source="MONDO:subClassOf", source="Orphanet:215/attributed", source="Orphanet:215/ntbt", source="Orphanet:215"} xref: ICD10CM:H53.63 {source="DOID:0050534"} xref: ICD9:368.61 {source="MONDO:equivalentTo", source="DOID:0050534", source="i2s"} -xref: MESH:C536122 {source="Orphanet:215", source="MONDO:equivalentTo", source="ORDO:215/e"} +xref: MESH:C536122 {source="Orphanet:215", source="MONDO:equivalentTo", source="Orphanet:215/e"} xref: MESH:C537743 {source="DOID:0050534", source="MONDO:superClassOf"} -xref: OMIM:163500 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:257270 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:300071 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:310500 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:610427 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:610444 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:610445 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:613216 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:613830 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:614565 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:615058 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} -xref: OMIM:616389 {source="Orphanet:215", source="MONDO:superClassOf", source="ORDO:215/btnt"} +xref: OMIM:163500 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:257270 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:300071 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:310500 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:610427 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:610444 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:610445 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:613216 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:613830 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:614565 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:615058 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} +xref: OMIM:616389 {source="Orphanet:215/btnt", source="Orphanet:215", source="MONDO:superClassOf"} xref: OMIMPS:310500 {source="MONDO:equivalentTo", source="DOID:0050534"} xref: Orphanet:215 {source="MONDO:equivalentTo", source="DOID:0050534"} xref: SCTID:193687000 {source="DOID:0050534", source="MONDO:directSiblingOf"} @@ -320209,7 +320050,7 @@ xref: SCTID:193688005 {source="DOID:0050534"} xref: SCTID:193689002 {source="DOID:0050534"} xref: SCTID:232061009 {source="MONDO:equivalentTo"} xref: SCTID:89208008 {source="DOID:0050534"} -xref: UMLS:C0339535 {source="Orphanet:215", source="MONDO:notFoundInDiseaseSubset", source="ORDO:215/e"} +xref: UMLS:C0339535 {source="Orphanet:215", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:215/e"} xref: UMLS:C1306122 {source="DOID:0050534", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004588 {source="DOID:0050534", source="MESH:C536122"} ! night blindness relationship: has_modifier MONDO:0021152 {source="OMIMPS:310500"} ! inherited @@ -320224,11 +320065,11 @@ synonym: "Hirschsprung disease type d brachydactyly" RELATED [GARD:0002700] synonym: "Hirschsprung disease with type D brachydactyly" RELATED [OMIM:306980] synonym: "Hirschsprung disease with type d brachydactyly" EXACT [MONDO:0010609] xref: GARD:0002700 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q43.1 {source="ORDO:2150/attributed", source="ORDO:2150/ntbt", source="Orphanet:2150"} -xref: MESH:C538319 {source="MONDO:equivalentTo", source="ORDO:2150/e", source="Orphanet:2150"} -xref: OMIM:306980 {source="MONDO:equivalentTo", source="ORDO:2150/e", source="Orphanet:2150"} +xref: ICD10CM:Q43.1 {source="Orphanet:2150/attributed", source="Orphanet:2150/ntbt", source="Orphanet:2150"} +xref: MESH:C538319 {source="Orphanet:2150/e", source="MONDO:equivalentTo", source="Orphanet:2150"} +xref: OMIM:306980 {source="Orphanet:2150/e", source="MONDO:equivalentTo", source="Orphanet:2150"} xref: Orphanet:2150 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:306980"} -xref: UMLS:C1844017 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2150/e", source="Orphanet:2150", source="OMIM:306980"} +xref: UMLS:C1844017 {source="Orphanet:2150/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2150", source="OMIM:306980"} is_a: MONDO:0015161 {source="Orphanet:2150", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015246 {source="Orphanet:2150"} ! syndromic anorectal malformation is_a: MONDO:0021189 {source="Orphanet:2150"} ! intestinal motility disease @@ -320248,14 +320089,14 @@ synonym: "NCL" EXACT ABBREVIATION [Orphanet:216] synonym: "neuronal ceroid lipofuscinosis" EXACT CLINGEN_PREFERRED [] xref: DOID:14503 {source="MONDO:equivalentTo"} xref: GARD:0010739 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.4 {source="DOID:14503", source="ORDO:216/e", source="Orphanet:216", source="ORDO:216/specific", source="MONDO:equivalentTo"} -xref: MESH:D009472 {source="DOID:14503", source="ORDO:216/e", source="Orphanet:216"} +xref: ICD10CM:E75.4 {source="DOID:14503", source="Orphanet:216", source="MONDO:equivalentTo", source="Orphanet:216/e", source="Orphanet:216/specific"} +xref: MESH:D009472 {source="DOID:14503", source="Orphanet:216", source="Orphanet:216/e"} xref: NCIT:C61257 {source="DOID:14503", source="MONDO:equivalentTo"} xref: OMIMPS:256730 {source="DOID:14503", source="MONDO:equivalentTo"} xref: Orphanet:216 {source="DOID:14503", source="MONDO:equivalentTo"} xref: Orphanet:79262 {source="DOID:14503", source="MONDO:superClassOf"} xref: SCTID:42012007 {source="DOID:14503", source="MONDO:equivalentTo"} -xref: UMLS:C0027877 {source="DOID:14503", source="ORDO:216/e", source="Orphanet:216", source="MONDO:equivalentTo", source="NCIT:C61257"} +xref: UMLS:C0027877 {source="DOID:14503", source="Orphanet:216", source="MONDO:equivalentTo", source="Orphanet:216/e", source="NCIT:C61257"} is_a: MONDO:0019052 {source="DOID:14503/inferred", source="MONDO:Redundant", source="NCIT:C61257", source="Orphanet:216/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism is_a: MONDO:0019058 {source="Orphanet:216"} ! neurometabolic disease is_a: MONDO:0019245 {source="DOID:14503"} ! lysosomal lipid storage disorder @@ -320272,27 +320113,27 @@ synonym: "holoprosencephaly sequence" EXACT [NCIT:C74988] synonym: "HPE" EXACT ABBREVIATION [Orphanet:2162] xref: DOID:4621 {source="MONDO:equivalentTo"} xref: GARD:0006665 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.2 {source="DOID:4621", source="MONDO:equivalentTo", source="ORDO:2162/specific", source="Orphanet:2162", source="ORDO:2162/e"} -xref: MedDRA:10056304 {source="Orphanet:2162", source="ORDO:2162/e"} -xref: MESH:D016142 {source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162", source="ORDO:2162/e"} +xref: ICD10CM:Q04.2 {source="Orphanet:2162/e", source="Orphanet:2162/specific", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} +xref: MedDRA:10056304 {source="Orphanet:2162/e", source="Orphanet:2162"} +xref: MESH:D016142 {source="Orphanet:2162/e", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} xref: NCIT:C74988 {source="DOID:4621", source="MONDO:equivalentTo"} -xref: OMIM:142945 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:142946 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:147250 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:157170 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:236100 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/e"} -xref: OMIM:605934 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:609408 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:609637 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:610828 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:610829 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} -xref: OMIM:612530 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/ntbt"} -xref: OMIM:614226 {source="MONDO:superClassOf", source="Orphanet:2162", source="ORDO:2162/btnt"} +xref: OMIM:142945 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:142946 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:147250 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:157170 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:236100 {source="Orphanet:2162/e", source="MONDO:superClassOf", source="Orphanet:2162"} +xref: OMIM:605934 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:609408 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:609637 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:610828 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:610829 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} +xref: OMIM:612530 {source="MONDO:superClassOf", source="Orphanet:2162/ntbt", source="Orphanet:2162"} +xref: OMIM:614226 {source="MONDO:superClassOf", source="Orphanet:2162/btnt", source="Orphanet:2162"} xref: OMIMPS:236100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2162 {source="DOID:4621", source="MONDO:equivalentTo"} xref: SCTID:30915001 {source="DOID:4621", source="MONDO:equivalentTo"} xref: SCTID:44519006 {source="DOID:4621"} -xref: UMLS:C0079541 {source="NCIT:C74988", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162", source="ORDO:2162/e"} +xref: UMLS:C0079541 {source="Orphanet:2162/e", source="NCIT:C74988", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} xref: UMLS:C3711749 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2162"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2162", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74988", source="indirect"} ! syndromic disease @@ -320333,7 +320174,7 @@ id: MONDO:0016299 name: holoprosencephaly-caudal dysgenesis syndrome def: "A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2165] subset: ordo_malformation_syndrome {source="Orphanet:2165"} -xref: ICD10CM:Q04.2 {source="Orphanet:2165", source="MONDO:relatedTo", source="ORDO:2165/ntbt"} +xref: ICD10CM:Q04.2 {source="Orphanet:2165", source="MONDO:relatedTo", source="Orphanet:2165/ntbt"} xref: Orphanet:2165 {source="MONDO:equivalentTo"} xref: UMLS:CN201097 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation @@ -320362,14 +320203,14 @@ synonym: "transposition of the great vessels, congenitally corrected" RELATED [G synonym: "ventricular inversion" EXACT [Orphanet:216694] synonym: "ventriculoarterial and atrioventricular discordance" EXACT [Orphanet:216694] xref: GARD:0001544 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q20.5 {source="ORDO:216694/e", source="Orphanet:216694"} +xref: ICD10CM:Q20.5 {source="Orphanet:216694/e", source="Orphanet:216694"} xref: ICD9:745.12 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10011120 {source="ORDO:216694/e", source="Orphanet:216694"} -xref: MESH:C535426 {source="MONDO:equivalentTo", source="ORDO:216694/e", source="Orphanet:216694"} +xref: MedDRA:10011120 {source="Orphanet:216694/e", source="Orphanet:216694"} +xref: MESH:C535426 {source="Orphanet:216694/e", source="MONDO:equivalentTo", source="Orphanet:216694"} xref: NCIT:C98902 {source="MONDO:equivalentTo"} xref: Orphanet:216694 {source="MONDO:equivalentTo"} xref: SCTID:83799000 {source="MONDO:equivalentTo"} -xref: UMLS:C0344616 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:216694/e", source="Orphanet:216694"} +xref: UMLS:C0344616 {source="Orphanet:216694/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:216694"} xref: UMLS:C1275809 {source="NCIT:C98902", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3274488 {source="MONDO:equivalentTo"} is_a: MONDO:0000153 {source="NCIT:C98902", source="Orphanet:216694"} ! transposition of the great arteries @@ -320380,7 +320221,7 @@ id: MONDO:0016302 name: isolated congenitally uncorrected transposition of the great arteries subset: ordo_clinical_subtype {source="Orphanet:216718"} synonym: "isolated congenitally uncorrected transposition of the great vessels" EXACT [Orphanet:216718] -xref: ICD10CM:Q20.3 {source="ORDO:216718/attributed", source="ORDO:216718/ntbt", source="Orphanet:216718"} +xref: ICD10CM:Q20.3 {source="Orphanet:216718", source="Orphanet:216718/attributed", source="Orphanet:216718/ntbt"} xref: Orphanet:216718 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:216718"} ! dextro-looped transposition of the great arteries relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -320392,7 +320233,7 @@ name: congenitally uncorrected transposition of the great arteries with cardiac subset: ordo_clinical_subtype {source="Orphanet:216729"} synonym: "congenitally uncorrected transposition of the great vessels with cardiac malformation" EXACT [Orphanet:216729] synonym: "TGA with cardiac malformation" EXACT [Orphanet:216729] -xref: ICD10CM:Q20.3 {source="ORDO:216729/attributed", source="ORDO:216729/ntbt", source="Orphanet:216729"} +xref: ICD10CM:Q20.3 {source="Orphanet:216729", source="Orphanet:216729/attributed", source="Orphanet:216729/ntbt"} xref: Orphanet:216729 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:216729"} ! dextro-looped transposition of the great arteries relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -320405,7 +320246,7 @@ subset: ordo_clinical_subtype {source="Orphanet:216866"} synonym: "NBIA1, classic form" EXACT [Orphanet:216866] synonym: "neurodegeneration with brain iron accumulation type 1, classic form" EXACT [Orphanet:216866] synonym: "PKAN, classic form" EXACT [Orphanet:216866] -xref: ICD10CM:G23.0 {source="Orphanet:216866", source="ORDO:216866/attributed", source="ORDO:216866/ntbt"} +xref: ICD10CM:G23.0 {source="Orphanet:216866", source="Orphanet:216866/attributed", source="Orphanet:216866/ntbt"} xref: Orphanet:216866 {source="MONDO:equivalentTo"} xref: UMLS:CN201109 {source="MONDO:equivalentTo"} is_a: MONDO:0009319 {source="Orphanet:216866"} ! pantothenate kinase-associated neurodegeneration @@ -320417,7 +320258,7 @@ subset: ordo_clinical_subtype {source="Orphanet:216873"} synonym: "NBIA1, atypical form" EXACT [Orphanet:216873] synonym: "neurodegeneration with brain iron accumulation type 1, atypical form" EXACT [Orphanet:216873] synonym: "PKAN, atypical form" EXACT [Orphanet:216873] -xref: ICD10CM:G23.0 {source="ORDO:216873/attributed", source="ORDO:216873/ntbt", source="Orphanet:216873"} +xref: ICD10CM:G23.0 {source="Orphanet:216873/attributed", source="Orphanet:216873/ntbt", source="Orphanet:216873"} xref: Orphanet:216873 {source="MONDO:equivalentTo"} xref: UMLS:CN201110 {source="MONDO:equivalentTo"} is_a: MONDO:0009319 {source="Orphanet:216873"} ! pantothenate kinase-associated neurodegeneration @@ -320426,7 +320267,7 @@ is_a: MONDO:0009319 {source="Orphanet:216873"} ! pantothenate kinase-associated id: MONDO:0016306 name: Niemann-Pick disease type C, severe perinatal form subset: ordo_clinical_subtype {source="Orphanet:216972"} -xref: ICD10CM:E75.2 {source="ORDO:216972/attributed", source="ORDO:216972/ntbt", source="Orphanet:216972"} +xref: ICD10CM:E75.2 {source="Orphanet:216972/attributed", source="Orphanet:216972/ntbt", source="Orphanet:216972"} xref: Orphanet:216972 {source="MONDO:equivalentTo"} xref: UMLS:CN201112 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216972"} ! Niemann-Pick disease type C @@ -320436,7 +320277,7 @@ relationship: has_modifier HP:0000007 {source="Orphanet:216972"} ! Autosomal rec id: MONDO:0016307 name: Niemann-Pick disease type C, severe early infantile neurologic onset subset: ordo_clinical_subtype {source="Orphanet:216975"} -xref: ICD10CM:E75.2 {source="Orphanet:216975", source="ORDO:216975/attributed", source="ORDO:216975/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:216975/attributed", source="Orphanet:216975/ntbt", source="Orphanet:216975"} xref: Orphanet:216975 {source="MONDO:equivalentTo"} xref: UMLS:CN201113 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216975"} ! Niemann-Pick disease type C @@ -320446,7 +320287,7 @@ relationship: has_modifier HP:0000007 {source="Orphanet:216975"} ! Autosomal rec id: MONDO:0016308 name: Niemann-Pick disease type C, late infantile neurologic onset subset: ordo_clinical_subtype {source="Orphanet:216978"} -xref: ICD10CM:E75.2 {source="Orphanet:216978", source="ORDO:216978/attributed", source="ORDO:216978/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:216978/attributed", source="Orphanet:216978/ntbt", source="Orphanet:216978"} xref: Orphanet:216978 {source="MONDO:equivalentTo"} xref: UMLS:CN201114 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216978"} ! Niemann-Pick disease type C @@ -320457,7 +320298,7 @@ id: MONDO:0016309 name: Niemann-Pick disease type C, juvenile neurologic onset subset: ordo_clinical_subtype {source="Orphanet:216981"} synonym: "Niemann-Pick disease type C, classic form" EXACT [Orphanet:216981] -xref: ICD10CM:E75.2 {source="Orphanet:216981", source="ORDO:216981/attributed", source="ORDO:216981/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:216981/attributed", source="Orphanet:216981/ntbt", source="Orphanet:216981"} xref: Orphanet:216981 {source="MONDO:equivalentTo"} xref: UMLS:CN201115 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216981"} ! Niemann-Pick disease type C @@ -320467,7 +320308,7 @@ relationship: has_modifier HP:0000007 {source="Orphanet:216981"} ! Autosomal rec id: MONDO:0016310 name: Niemann-Pick disease type C, adult neurologic onset subset: ordo_clinical_subtype {source="Orphanet:216986"} -xref: ICD10CM:E75.2 {source="Orphanet:216986", source="ORDO:216986/attributed", source="ORDO:216986/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:216986/attributed", source="Orphanet:216986/ntbt", source="Orphanet:216986"} xref: Orphanet:216986 {source="MONDO:equivalentTo"} xref: UMLS:CN201116 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216986"} ! Niemann-Pick disease type C @@ -320479,7 +320320,7 @@ name: Bockenheimer syndrome subset: ordo_malformation_syndrome {source="Orphanet:217008"} synonym: "genuine diffuse phlebectasia" EXACT [Orphanet:217008] xref: GARD:0013063 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q27.4 {source="Orphanet:217008", source="ORDO:217008/ntbt"} +xref: ICD10CM:Q27.4 {source="Orphanet:217008/ntbt", source="Orphanet:217008"} xref: Orphanet:217008 {source="MONDO:equivalentTo"} xref: UMLS:CN201119 {source="MONDO:equivalentTo"} is_a: MONDO:0016230 {source="MONDO:0016232-obsoleted"} ! simple vascular malformation @@ -320491,7 +320332,7 @@ name: 5-fluorouracil poisoning def: "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." [Orphanet:217064] subset: ordo_clinical_situation {source="Orphanet:217064"} synonym: "5-fluorouracil intoxication" EXACT [Orphanet:217064] -xref: ICD10CM:T45.1 {source="ORDO:217064/ntbt", source="Orphanet:217064"} +xref: ICD10CM:T45.1 {source="Orphanet:217064", source="Orphanet:217064/ntbt"} xref: MESH:C531667 {source="MONDO:equivalentTo"} xref: Orphanet:217064 {source="MONDO:equivalentTo"} xref: UMLS:CN201128 {source="MONDO:equivalentTo"} @@ -320517,10 +320358,10 @@ xref: UMLS:CN201130 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundIn property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0005192 -consider: MedDRA:10033604 {source="Orphanet:217074", source="ORDO:217074/e"} -consider: MedDRA:10033609 {source="Orphanet:217074", source="ORDO:217074/e"} -consider: MESH:D010190 {source="MONDO:subClassOf", source="Orphanet:217074", source="ORDO:217074/e"} -consider: UMLS:C0235974 {source="MONDO:subClassOf", source="Orphanet:217074", source="ORDO:217074/e"} +consider: MedDRA:10033604 {source="Orphanet:217074", source="Orphanet:217074/e"} +consider: MedDRA:10033609 {source="Orphanet:217074", source="Orphanet:217074/e"} +consider: MESH:D010190 {source="MONDO:subClassOf", source="Orphanet:217074", source="Orphanet:217074/e"} +consider: UMLS:C0235974 {source="MONDO:subClassOf", source="Orphanet:217074", source="Orphanet:217074/e"} consider: UMLS:C0346647 {source="Orphanet:217074"} [Term] @@ -320536,7 +320377,7 @@ synonym: "mucopolysaccharidosis type 2, severe form" EXACT CLINGEN_PREFERRED [] synonym: "mucopolysaccharidosis type 2A" EXACT [Orphanet:217085] synonym: "mucopolysaccharidosis type II, severe form" EXACT [Orphanet:217085] synonym: "mucopolysaccharidosis type IIA" EXACT [Orphanet:217085] -xref: ICD10CM:E76.1 {source="MONDO:subClassOf", source="ORDO:217085/attributed", source="ORDO:217085/ntbt", source="Orphanet:217085"} +xref: ICD10CM:E76.1 {source="MONDO:subClassOf", source="Orphanet:217085", source="Orphanet:217085/attributed", source="Orphanet:217085/ntbt"} xref: Orphanet:217085 {source="MONDO:equivalentTo"} xref: SCTID:73146005 {source="MONDO:equivalentTo"} xref: UMLS:CN201131 {source="MONDO:equivalentTo"} @@ -320555,7 +320396,7 @@ synonym: "mucopolysaccharidosis type 2, attenuated form" EXACT CLINGEN_PREFERRED synonym: "mucopolysaccharidosis type 2B" EXACT [Orphanet:217093] synonym: "mucopolysaccharidosis type II, attenuated form" EXACT [Orphanet:217093] synonym: "mucopolysaccharidosis type IIB" EXACT [Orphanet:217093] -xref: ICD10CM:E76.1 {source="MONDO:subClassOf", source="Orphanet:217093", source="ORDO:217093/attributed", source="ORDO:217093/ntbt"} +xref: ICD10CM:E76.1 {source="MONDO:subClassOf", source="Orphanet:217093/attributed", source="Orphanet:217093/ntbt", source="Orphanet:217093"} xref: Orphanet:217093 {source="MONDO:equivalentTo"} xref: UMLS:CN201132 {source="MONDO:equivalentTo"} is_a: MONDO:0010674 {source="Orphanet:217093"} ! mucopolysaccharidosis type 2 @@ -320566,7 +320407,7 @@ name: limbic encephalitis with NMDA receptor antibodies def: "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens." [Orphanet:217253] subset: ordo_disease {source="Orphanet:217253"} synonym: "limbic encephalitis with N-methyl-D-aspartate receptor antibodies" EXACT [Orphanet:217253] -xref: ICD10CM:G13.1 {source="ORDO:217253/ntbt", source="Orphanet:217253"} +xref: ICD10CM:G13.1 {source="Orphanet:217253/ntbt", source="Orphanet:217253"} xref: Orphanet:217253 {source="MONDO:equivalentTo"} xref: SCTID:716684004 {source="MONDO:equivalentTo"} xref: UMLS:C4274344 {source="MONDO:equivalentTo"} @@ -320586,14 +320427,14 @@ synonym: "progressive multifocal leukoencephalitis" EXACT [Orphanet:217260] xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"} xref: EFO:0007455 {source="MONDO:equivalentTo"} xref: GARD:0007468 {source="MONDO:equivalentTo"} -xref: ICD10CM:A81.2 {source="DOID:643", source="ORDO:217260/e", source="MONDO:equivalentTo", source="Orphanet:217260"} +xref: ICD10CM:A81.2 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"} xref: ICD9:046.3 {source="DOID:643", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10036807 {source="ORDO:217260/e", source="Orphanet:217260"} -xref: MESH:D007968 {source="DOID:643", source="EFO:0007455", source="ORDO:217260/e", source="MONDO:equivalentTo", source="Orphanet:217260"} +xref: MedDRA:10036807 {source="Orphanet:217260", source="Orphanet:217260/e"} +xref: MESH:D007968 {source="DOID:643", source="EFO:0007455", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"} xref: NCIT:C26815 {source="DOID:643", source="MONDO:equivalentTo"} xref: Orphanet:217260 {source="MONDO:equivalentTo"} xref: SCTID:22255007 {source="DOID:643", source="MONDO:equivalentTo"} -xref: UMLS:C0023524 {source="DOID:643", source="ORDO:217260/e", source="MONDO:equivalentTo", source="Orphanet:217260", source="NCIT:C26815"} +xref: UMLS:C0023524 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e", source="NCIT:C26815"} is_a: MONDO:0020067 {source="MESH:D007968/inferred", source="Orphanet:217260"} ! infectious encephalitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy xsd:anyURI {source="GARD:0007468"} @@ -320604,7 +320445,7 @@ subset: ordo_disease {source="Orphanet:217399"} synonym: "congenital absence of pain with hyperhidrosis" EXACT [Orphanet:217399] synonym: "congenital analgesia with hyperhidrosis" EXACT [Orphanet:217399] synonym: "congenital indifference to pain with hyperhidrosis" EXACT [Orphanet:217399] -xref: ICD10CM:G90.8 {source="Orphanet:217399", source="ORDO:217399/attributed", source="ORDO:217399/ntbt"} +xref: ICD10CM:G90.8 {source="Orphanet:217399/attributed", source="Orphanet:217399/ntbt", source="Orphanet:217399"} xref: Orphanet:217399 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="Orphanet:217399"} ! hereditary sensory and autonomic neuropathy relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -320622,7 +320463,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:D68.5 {source="Orphanet:217454", source="ORDO:217454/attributed", source="ORDO:217454/ntbt"} +consider: ICD10CM:D68.5 {source="Orphanet:217454/attributed", source="Orphanet:217454/ntbt", source="Orphanet:217454"} [Term] id: MONDO:0016321 @@ -320632,7 +320473,7 @@ subset: ordo_disease {source="Orphanet:217557"} synonym: "infantile cellular interstitial pneumonitis" EXACT [Orphanet:217557] synonym: "pig" EXACT [Orphanet:217557] xref: ICD10CM:J84.842 {source="MONDO:equivalentTo"} -xref: ICD10CM:P22.8 {source="Orphanet:217557", source="ORDO:217557/ntbt"} +xref: ICD10CM:P22.8 {source="Orphanet:217557", source="Orphanet:217557/ntbt"} xref: Orphanet:217557 {source="MONDO:equivalentTo"} xref: SCTID:707551007 {source="MONDO:equivalentTo"} xref: UMLS:C3161106 {source="MONDO:equivalentTo"} @@ -320659,8 +320500,8 @@ is_a: MONDO:0017019 {source="Orphanet:217560"} ! interstitial lung disease speci id: MONDO:0016323 name: chronic respiratory distress with surfactant metabolism deficiency subset: ordo_disease {source="Orphanet:217566"} -xref: ICD10CM:J84.8 {source="ORDO:217566/attributed", source="ORDO:217566/ntbt", source="Orphanet:217566"} -xref: OMIM:610913 {source="MONDO:subClassOf", source="ORDO:217566/ntbt", source="MONDO:directSiblingOf", source="Orphanet:217566"} +xref: ICD10CM:J84.8 {source="Orphanet:217566/attributed", source="Orphanet:217566/ntbt", source="Orphanet:217566"} +xref: OMIM:610913 {source="MONDO:subClassOf", source="Orphanet:217566/ntbt", source="MONDO:directSiblingOf", source="Orphanet:217566"} xref: Orphanet:217566 {source="MONDO:equivalentTo"} is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis is_a: MONDO:0017031 ! primary interstitial lung disease in childhood and adulthood @@ -320679,7 +320520,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:217572"} synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] synonym: "GSD with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] -xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="ORDO:217572/attributed", source="ORDO:217572/ntbt", source="Orphanet:217572"} +xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:217572/attributed", source="Orphanet:217572/ntbt", source="Orphanet:217572"} xref: Orphanet:217572 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201158 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -320749,9 +320590,9 @@ id: MONDO:0016331 name: infantile systemic hyalinosis def: "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." [Orphanet:2176] subset: ordo_disease {source="Orphanet:2176"} -xref: ICD10CM:E78.8 {source="Orphanet:2176", source="ORDO:2176/attributed", source="ORDO:2176/ntbt"} -xref: OMIM:228600 {source="MONDO:subClassOf", source="Orphanet:2176", source="ORDO:2176/ntbt"} -xref: OMIM:236490 {source="ORDO:2176/w", source="Orphanet:2176", source="MONDO:equivalentObsolete"} +xref: ICD10CM:E78.8 {source="Orphanet:2176", source="Orphanet:2176/attributed", source="Orphanet:2176/ntbt"} +xref: OMIM:228600 {source="MONDO:subClassOf", source="Orphanet:2176", source="Orphanet:2176/ntbt"} +xref: OMIM:236490 {source="Orphanet:2176", source="MONDO:equivalentObsolete", source="Orphanet:2176/w"} xref: Orphanet:2176 {source="MONDO:equivalentTo"} xref: SCTID:238867003 {source="MONDO:equivalentTo"} is_a: MONDO:0009229 {source="Orphanet:2176"} ! hyaline fibromatosis syndrome @@ -320763,7 +320604,7 @@ property_value: confidence "6.435897435897435" xsd:double id: MONDO:0016332 name: hypertrophic cardiomyopathy due to intensive athletic training subset: ordo_disease {source="Orphanet:217601"} -xref: ICD10CM:I42.2 {source="Orphanet:217601", source="ORDO:217601/ntbt"} +xref: ICD10CM:I42.2 {source="Orphanet:217601", source="Orphanet:217601/ntbt"} xref: Orphanet:217601 {source="MONDO:equivalentTo"} xref: UMLS:CN226904 {source="MONDO:equivalentTo"} is_a: MONDO:0016330 {source="Orphanet:217601"} ! non-familial hypertrophic cardiomyopathy @@ -320782,12 +320623,12 @@ synonym: "hypokinetic dilated cardiomyopathy, familial" RELATED [GARD:0002905] synonym: "idiopathic dilated cardiomyopathy" RELATED [GARD:0000221] xref: GARD:0000221 {source="MONDO:equivalentTo"} xref: GARD:0002905 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="ORDO:217607/attributed", source="ORDO:217607/ntbt", source="Orphanet:217607"} -xref: MESH:C536231 {source="MONDO:equivalentTo", source="Orphanet:217607", source="ORDO:217607/e"} +xref: ICD10CM:I42.0 {source="MONDO:subClassOf", source="Orphanet:217607", source="Orphanet:217607/attributed", source="Orphanet:217607/ntbt"} +xref: MESH:C536231 {source="MONDO:equivalentTo", source="Orphanet:217607", source="Orphanet:217607/e"} xref: OMIMPS:115200 {source="DOID:12930", source="MONDO:equivalentTo"} xref: Orphanet:217604 {source="MONDO:subClassOf", source="GARD:0000221"} xref: Orphanet:217607 {source="MONDO:equivalentTo"} -xref: UMLS:C0340427 {source="MONDO:equivalentTo", source="Orphanet:217607", source="ORDO:217607/e"} +xref: UMLS:C0340427 {source="MONDO:equivalentTo", source="Orphanet:217607", source="Orphanet:217607/e"} is_a: MONDO:0005021 {source="MESH:C536231", source="MONDO:Redundant", source="Orphanet:217607"} ! dilated cardiomyopathy is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:217607", source="indirect"} ! heart disorder intersection_of: MONDO:0005021 ! dilated cardiomyopathy @@ -320870,7 +320711,7 @@ xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} xref: OMIMPS:115210 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:217635 {source="MONDO:equivalentTo"} xref: SCTID:233878008 {source="MONDO:equivalentTo"} -xref: UMLS:C0340429 {source="ORDO:217635/e", source="Orphanet:217635", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0340429 {source="Orphanet:217635", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:217635/e"} is_a: MONDO:0005201 {source="MONDO:Redundant", source="Orphanet:217635", source="linkedlifedata"} ! restrictive cardiomyopathy is_a: MONDO:0005217 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! familial cardiomyopathy is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:217635", source="indirect"} ! heart disorder @@ -320902,19 +320743,19 @@ synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy" EXACT [Or synonym: "familial isolated arrhythmogenic ventricular dysplasia" EXACT [Orphanet:217656] synonym: "familial isolated ARVC" EXACT [Orphanet:217656] synonym: "familial isolated ARVD" EXACT [Orphanet:217656] -xref: ICD10CM:I42.8 {source="Orphanet:217656", source="ORDO:217656/attributed", source="ORDO:217656/ntbt"} -xref: OMIM:107970 {source="Orphanet:217656", source="ORDO:217656/e", source="MONDO:superClassOf"} -xref: OMIM:600996 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:602086 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:602087 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:604400 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:604401 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:607450 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:609040 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:610193 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:610476 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:611528 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} -xref: OMIM:615616 {source="Orphanet:217656", source="MONDO:superClassOf", source="ORDO:217656/btnt"} +xref: ICD10CM:I42.8 {source="Orphanet:217656", source="Orphanet:217656/attributed", source="Orphanet:217656/ntbt"} +xref: OMIM:107970 {source="Orphanet:217656", source="Orphanet:217656/e", source="MONDO:superClassOf"} +xref: OMIM:600996 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:602086 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:602087 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:604400 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:604401 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:607450 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:609040 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:610193 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:610476 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:611528 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} +xref: OMIM:615616 {source="Orphanet:217656", source="Orphanet:217656/btnt", source="MONDO:superClassOf"} xref: OMIMPS:107970 {source="DOID:0050431", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:equivalentTo"} xref: SCTID:715865008 {source="MONDO:equivalentTo"} @@ -320948,12 +320789,12 @@ synonym: "Hydroanencephaly" RELATED [GARD:0006681] xref: DOID:4626 {source="MONDO:equivalentTo"} xref: GARD:0006681 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002324 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q04.3 {source="Orphanet:2177", source="ORDO:2177/inclusion", source="DOID:4626", source="ORDO:2177/ntbt"} -xref: MESH:D006832 {source="Orphanet:2177", source="ORDO:2177/e", source="MONDO:equivalentTo", source="DOID:4626"} +xref: ICD10CM:Q04.3 {source="Orphanet:2177", source="Orphanet:2177/ntbt", source="DOID:4626", source="Orphanet:2177/inclusion"} +xref: MESH:D006832 {source="Orphanet:2177", source="MONDO:equivalentTo", source="Orphanet:2177/e", source="DOID:4626"} xref: NCIT:C98949 {source="MONDO:equivalentTo", source="DOID:4626"} xref: Orphanet:2177 {source="MONDO:equivalentTo"} xref: SCTID:30023002 {source="MONDO:equivalentTo", source="DOID:4626"} -xref: UMLS:C0020225 {source="Orphanet:2177", source="ORDO:2177/e", source="NCIT:C98949", source="MONDO:equivalentTo", source="DOID:4626"} +xref: UMLS:C0020225 {source="Orphanet:2177", source="NCIT:C98949", source="MONDO:equivalentTo", source="Orphanet:2177/e", source="DOID:4626"} is_a: MONDO:0000819 {source="DOID:4626"} ! anencephaly is_a: MONDO:0002320 {source="MONDO:Redundant", source="NCIT:C98949", source="indirect"} ! congenital nervous system disorder is_a: MONDO:0017103 {source="Orphanet:2177"} ! encephaloclastic disorder @@ -321016,18 +320857,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:2185"} synonym: "congenital hydrocephalus" EXACT [MONDO:patterns/congenital] synonym: "HYC3" RELATED ABBREVIATION [] xref: ICD10CM:Q03 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q03.0 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"} -xref: ICD10CM:Q03.1 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"} -xref: ICD10CM:Q03.8 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"} -xref: ICD10CM:Q03.9 {source="ORDO:2185/specific", source="ORDO:2185/btnt", source="Orphanet:2185"} -xref: MedDRA:10010506 {source="ORDO:2185/e", source="Orphanet:2185"} +xref: ICD10CM:Q03.0 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} +xref: ICD10CM:Q03.1 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} +xref: ICD10CM:Q03.8 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} +xref: ICD10CM:Q03.9 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} +xref: MedDRA:10010506 {source="Orphanet:2185/e", source="Orphanet:2185"} xref: NCIT:C98876 {source="MONDO:equivalentTo"} -xref: OMIM:236600 {source="MONDO:superClassOf", source="ORDO:2185/btnt", source="Orphanet:2185"} -xref: OMIM:615219 {source="MONDO:superClassOf", source="ORDO:2185/btnt", source="Orphanet:2185"} +xref: OMIM:236600 {source="Orphanet:2185/btnt", source="MONDO:superClassOf", source="Orphanet:2185"} +xref: OMIM:615219 {source="Orphanet:2185/btnt", source="MONDO:superClassOf", source="Orphanet:2185"} xref: OMIMPS:236600 {source="MONDO:equivalentTo"} xref: Orphanet:2185 {source="MONDO:equivalentTo"} xref: SCTID:47032000 {source="MONDO:equivalentTo"} -xref: UMLS:C0020256 {source="MONDO:equivalentTo", source="ORDO:2185/e", source="NCIT:C98876", source="Orphanet:2185"} +xref: UMLS:C0020256 {source="Orphanet:2185/e", source="MONDO:equivalentTo", source="NCIT:C98876", source="Orphanet:2185"} is_a: MONDO:0001150 {source="MONDO:cjm", source="NCIT:C98876"} ! hydrocephalus is_a: MONDO:0002320 {source="NCIT:C98876", source="indirect"} ! congenital nervous system disorder is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2185", source="Orphanet:2185/inferred"} ! disorder of development or morphogenesis @@ -321046,9 +320887,9 @@ name: hydrocephalus-blue sclerae-nephropathy syndrome def: "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." [Orphanet:2186] subset: ordo_malformation_syndrome {source="Orphanet:2186"} synonym: "Daentl-Townsend-Siegel syndrome" EXACT [Orphanet:2186] -xref: ICD10CM:Q87.8 {source="ORDO:2186/attributed", source="ORDO:2186/ntbt", source="Orphanet:2186"} +xref: ICD10CM:Q87.8 {source="Orphanet:2186/attributed", source="Orphanet:2186/ntbt", source="Orphanet:2186"} xref: Orphanet:2186 {source="MONDO:equivalentTo"} -xref: UMLS:C2931014 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2186", source="ORDO:2186/e"} +xref: UMLS:C2931014 {source="Orphanet:2186/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2186"} is_a: MONDO:0016349 ! congenital hydrocephalus is_a: MONDO:0019721 {source="Orphanet:2186"} ! syndromic renal or urinary tract malformation @@ -321071,9 +320912,9 @@ name: idiopathic inherited hypercalciuria comment: Editor note: consider grouping class subset: ordo_disease {source="Orphanet:2197"} synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197] -xref: ICD10CM:E83.5 {source="ORDO:2197/inclusion", source="ORDO:2197/ntbt", source="Orphanet:2197"} -xref: OMIM:143870 {source="MONDO:superClassOf", source="ORDO:2197/btnt", source="Orphanet:2197"} -xref: OMIM:607258 {source="MONDO:superClassOf", source="ORDO:2197/btnt", source="Orphanet:2197"} +xref: ICD10CM:E83.5 {source="Orphanet:2197/ntbt", source="Orphanet:2197/inclusion", source="Orphanet:2197"} +xref: OMIM:143870 {source="MONDO:superClassOf", source="Orphanet:2197/btnt", source="Orphanet:2197"} +xref: OMIM:607258 {source="MONDO:superClassOf", source="Orphanet:2197/btnt", source="Orphanet:2197"} xref: Orphanet:2197 {source="MONDO:equivalentTo"} xref: UMLS:C0543800 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2197"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -321089,11 +320930,11 @@ synonym: "keratoderma palmoplantar spastic paralysis" RELATED [GARD:0003095] synonym: "palmoplantar hyperkeratosis-spastic paralysis syndrome" EXACT [Orphanet:2201] synonym: "Powell-Venencie-Gordon syndrome" EXACT [Orphanet:2201] xref: GARD:0003095 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MESH:C536153 {source="MONDO:subClassOf", source="Orphanet:2201", source="ORDO:2201/e"} +xref: MESH:C536153 {source="MONDO:subClassOf", source="Orphanet:2201", source="Orphanet:2201/e"} xref: MESH:C538358 {source="MONDO:equivalentTo"} -xref: OMIM:148360 {source="MONDO:subClassOf", source="Orphanet:2201", source="ORDO:2201/ntbt"} +xref: OMIM:148360 {source="MONDO:subClassOf", source="Orphanet:2201", source="Orphanet:2201/ntbt"} xref: Orphanet:2201 {source="MONDO:equivalentTo"} -xref: UMLS:C1835671 {source="Orphanet:2201", source="ORDO:2201/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1835671 {source="Orphanet:2201", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2201/e"} xref: UMLS:C2931828 {source="Orphanet:2201", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0007853 ! palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome relationship: has_modifier HP:0000006 {source="Orphanet:2201"} ! Autosomal dominant inheritance @@ -321105,12 +320946,12 @@ name: xeroderma pigmentosum-Cockayne syndrome complex def: "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." [Orphanet:220295] subset: ordo_disease {source="Orphanet:220295"} synonym: "XP/CS complex" EXACT [Orphanet:220295] -xref: ICD10CM:Q82.1 {source="Orphanet:220295", source="ORDO:220295/nd", source="MONDO:directSiblingOf", source="ORDO:220295/attributed"} -xref: ICD10CM:Q87.1 {source="Orphanet:220295", source="ORDO:220295/nd", source="ORDO:220295/attributed"} -xref: OMIM:278730 {source="Orphanet:220295", source="MONDO:superClassOf", source="ORDO:220295/btnt"} -xref: OMIM:278760 {source="Orphanet:220295", source="MONDO:superClassOf", source="ORDO:220295/btnt"} -xref: OMIM:278780 {source="Orphanet:220295", source="MONDO:superClassOf", source="ORDO:220295/btnt"} -xref: OMIM:610651 {source="Orphanet:220295", source="MONDO:superClassOf", source="ORDO:220295/btnt"} +xref: ICD10CM:Q82.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q87.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed"} +xref: OMIM:278730 {source="Orphanet:220295", source="Orphanet:220295/btnt", source="MONDO:superClassOf"} +xref: OMIM:278760 {source="Orphanet:220295", source="Orphanet:220295/btnt", source="MONDO:superClassOf"} +xref: OMIM:278780 {source="Orphanet:220295", source="Orphanet:220295/btnt", source="MONDO:superClassOf"} +xref: OMIM:610651 {source="Orphanet:220295", source="Orphanet:220295/btnt", source="MONDO:superClassOf"} xref: Orphanet:220295 {source="MONDO:equivalentTo"} xref: UMLS:CN201205 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:220295"} ! syndromic intellectual disability @@ -321129,12 +320970,12 @@ id: MONDO:0016355 name: semilobar holoprosencephaly def: "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [Orphanet:220386] subset: ordo_clinical_subtype {source="Orphanet:220386"} -xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:220386", source="ORDO:220386/attributed", source="ORDO:220386/ntbt"} +xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:220386", source="Orphanet:220386/attributed", source="Orphanet:220386/ntbt"} xref: OMIM:157170 {source="Orphanet:220386", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: OMIM:609637 {source="Orphanet:220386", source="MONDO:superClassOf"} xref: OMIM:610829 {source="Orphanet:220386", source="MONDO:superClassOf"} xref: Orphanet:220386 {source="MONDO:equivalentTo"} -xref: UMLS:C0751617 {source="Orphanet:220386", source="ORDO:220386/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751617 {source="Orphanet:220386", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:220386/e"} is_a: MONDO:0016296 {source="Orphanet:220386"} ! holoprosencephaly [Term] @@ -321149,7 +320990,7 @@ synonym: "dSSc" EXACT [NCIT:C116791] synonym: "progressive cutaneous systemic scleroderma" EXACT [Orphanet:220393] synonym: "progressive cutaneous systemic sclerosis" EXACT [Orphanet:220393] xref: GARD:0009751 {source="MONDO:equivalentTo"} -xref: ICD10CM:M34.0 {source="ORDO:220393/ntbt", source="Orphanet:220393"} +xref: ICD10CM:M34.0 {source="Orphanet:220393/ntbt", source="Orphanet:220393"} xref: NCIT:C116791 {source="MONDO:equivalentTo"} xref: Orphanet:220393 {source="MONDO:equivalentTo"} xref: UMLS:C1258104 {source="NCIT:C116791", source="MONDO:notFoundInDiseaseSubset", source="GARD:0009751"} @@ -321163,7 +321004,7 @@ subset: gard_rare {source="GARD:0002022"} subset: ordo_malformation_syndrome {source="Orphanet:2204"} synonym: "Kozlowski-Tsuruta syndrome" EXACT [Orphanet:2204] xref: GARD:0002022 {source="MONDO:equivalentTo"} -xref: ICD10CM:M89.8 {source="ORDO:2204/attributed", source="ORDO:2204/ntbt", source="Orphanet:2204"} +xref: ICD10CM:M89.8 {source="Orphanet:2204", source="Orphanet:2204/attributed", source="Orphanet:2204/ntbt"} xref: Orphanet:2204 {source="MONDO:equivalentTo"} xref: UMLS:CN201209 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:2204"} ! primary bone dysplasia @@ -321178,7 +321019,7 @@ def: "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic scle subset: ordo_clinical_subtype {source="Orphanet:220402"} synonym: "limited cutaneous systemic scleroderma" EXACT [Orphanet:220402] xref: GARD:0001053 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M34.1 {source="ORDO:220402/ntbt", source="Orphanet:220402"} +xref: ICD10CM:M34.1 {source="Orphanet:220402", source="Orphanet:220402/ntbt"} xref: Orphanet:220402 {source="MONDO:equivalentTo"} xref: SCTID:298285004 {source="MONDO:equivalentTo"} is_a: MONDO:0005100 {source="Orphanet:220402", source="linkedlifedata", source="linkedlifedata/inferred"} ! systemic sclerosis @@ -321194,7 +321035,7 @@ synonym: "SSC without skin involvement" EXACT [NCIT:C116789] synonym: "systemic sclerosis sine scleroderma" EXACT [Orphanet:220407] synonym: "systemic sclerosis without skin involvement" EXACT [NCIT:C116789] xref: GARD:0009749 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M34.0 {source="Orphanet:220407", source="ORDO:220407/ntbt"} +xref: ICD10CM:M34.0 {source="Orphanet:220407/ntbt", source="Orphanet:220407"} xref: NCIT:C116789 {source="MONDO:equivalentTo"} xref: Orphanet:220407 {source="MONDO:equivalentTo"} xref: SCTID:128461001 {source="MONDO:equivalentTo"} @@ -321206,7 +321047,7 @@ id: MONDO:0016360 name: marcothrombocytopenia with mitral valve insufficiency def: "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." [Orphanet:220448] subset: ordo_disease {source="Orphanet:220448"} -xref: ICD10CM:D69.4 {source="ORDO:220448/attributed", source="ORDO:220448/ntbt", source="Orphanet:220448"} +xref: ICD10CM:D69.4 {source="Orphanet:220448/attributed", source="Orphanet:220448/ntbt", source="Orphanet:220448"} xref: Orphanet:220448 {source="MONDO:equivalentTo"} is_a: MONDO:0018795 {source="Orphanet:220448"} ! syndromic constitutional thrombocytopenia @@ -321219,7 +321060,7 @@ synonym: "isolated hereditary giant platelet disorder" EXACT CLINGEN_PREFERRED [ synonym: "isolated hereditary macrothrombocytopenia" EXACT [Orphanet:220452] synonym: "isolated inherited giant platelet disorder" EXACT [Orphanet:220452] synonym: "isolated inherited macrothrombocytopenia" EXACT [Orphanet:220452] -xref: ICD10CM:D69.1 {source="Orphanet:220452", source="ORDO:220452/attributed", source="ORDO:220452/ntbt"} +xref: ICD10CM:D69.1 {source="Orphanet:220452", source="Orphanet:220452/attributed", source="Orphanet:220452/ntbt"} xref: Orphanet:220452 {source="MONDO:equivalentTo"} xref: UMLS:CN226911 {source="MONDO:equivalentTo"} is_a: MONDO:0018796 {source="Orphanet:220452"} ! isolated constitutional thrombocytopenia @@ -321239,17 +321080,17 @@ synonym: "hereditary flat adenoma syndrome" EXACT [NCIT:C6729] synonym: "HFAS" EXACT ABBREVIATION [NCIT:C6729] synonym: "mild form of FAP" RELATED [GARD:0008532] xref: GARD:0008532 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D12.6 {source="Orphanet:220460", source="ORDO:220460/attributed", source="ORDO:220460/ntbt"} -xref: MESH:C538265 {source="Orphanet:220460", source="MONDO:equivalentTo", source="ORDO:220460/e"} +xref: ICD10CM:D12.6 {source="Orphanet:220460", source="Orphanet:220460/attributed", source="Orphanet:220460/ntbt"} +xref: MESH:C538265 {source="Orphanet:220460", source="MONDO:equivalentTo", source="Orphanet:220460/e"} xref: NCIT:C6729 {source="MONDO:cjm", source="MONDO:equivalentTo"} -xref: OMIM:175100 {source="Orphanet:220460", source="MONDO:superClassOf", source="ORDO:220460/btnt"} -xref: OMIM:608456 {source="Orphanet:220460", source="MONDO:superClassOf", source="ORDO:220460/btnt"} -xref: OMIM:612591 {source="Orphanet:220460", source="MONDO:superClassOf", source="ORDO:220460/btnt"} -xref: OMIM:615083 {source="Orphanet:220460", source="MONDO:superClassOf", source="ORDO:220460/btnt"} -xref: OMIM:616415 {source="Orphanet:220460", source="MONDO:superClassOf", source="ORDO:220460/btnt"} +xref: OMIM:175100 {source="Orphanet:220460", source="Orphanet:220460/btnt", source="MONDO:superClassOf"} +xref: OMIM:608456 {source="Orphanet:220460", source="Orphanet:220460/btnt", source="MONDO:superClassOf"} +xref: OMIM:612591 {source="Orphanet:220460", source="Orphanet:220460/btnt", source="MONDO:superClassOf"} +xref: OMIM:615083 {source="Orphanet:220460", source="Orphanet:220460/btnt", source="MONDO:superClassOf"} +xref: OMIM:616415 {source="Orphanet:220460", source="Orphanet:220460/btnt", source="MONDO:superClassOf"} xref: Orphanet:220460 {source="MONDO:equivalentTo"} xref: SCTID:715866009 {source="MONDO:equivalentTo"} -xref: UMLS:C2674616 {source="NCIT:C6729", source="Orphanet:220460", source="MONDO:equivalentTo", source="ORDO:220460/e"} +xref: UMLS:C2674616 {source="NCIT:C6729", source="Orphanet:220460", source="MONDO:equivalentTo", source="Orphanet:220460/e"} is_a: MONDO:0015356 {source="MESH:C538265/inferred", source="MONDO:Redundant", source="NCIT:C6729", source="Orphanet:220460", source="Orphanet:220460/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0021057 {source="MONDO:cjm"} ! classic or attenuated familial adenomatous polyposis @@ -321268,7 +321109,7 @@ xref: SCTID:35400008 {source="EFO:0006513"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0006507 -consider: ICD10CM:E83.1 {source="MONDO:subClassOf", source="ORDO:220489/attributed", source="ORDO:220489/ntbt"} +consider: ICD10CM:E83.1 {source="MONDO:subClassOf", source="Orphanet:220489/attributed", source="Orphanet:220489/ntbt"} consider: ICD9:275.01 {source="EFO:0006513"} consider: NCIT:C84764 {source="EFO:0006513", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} consider: Orphanet:139498 {source="OMIM:235200"} @@ -321287,13 +321128,13 @@ synonym: "Joubert syndrome with ocular anomalies" RELATED [GARD:0010168] synonym: "Joubert syndrome with retinopathy" EXACT [Orphanet:220493] synonym: "JS-O" EXACT [Orphanet:220493] xref: GARD:0010168 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="ORDO:220493/attributed", source="ORDO:220493/ntbt"} -xref: ICD10CM:Q04.3 {source="Orphanet:220493", source="ORDO:220493/attributed", source="ORDO:220493/ntbt"} -xref: OMIM:608629 {source="Orphanet:220493", source="GARD:0010168", source="MONDO:superClassOf", source="ORDO:220493/btnt"} -xref: OMIM:614424 {source="Orphanet:220493", source="MONDO:superClassOf", source="ORDO:220493/btnt"} -xref: OMIM:614464 {source="Orphanet:220493", source="MONDO:superClassOf", source="ORDO:220493/btnt"} -xref: OMIM:614970 {source="Orphanet:220493", source="MONDO:superClassOf", source="ORDO:220493/btnt"} -xref: OMIM:617121 {source="Orphanet:220493", source="MONDO:superClassOf", source="ORDO:220493/btnt"} +xref: ICD10CM:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:220493", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} +xref: OMIM:608629 {source="Orphanet:220493", source="GARD:0010168", source="Orphanet:220493/btnt", source="MONDO:superClassOf"} +xref: OMIM:614424 {source="Orphanet:220493", source="Orphanet:220493/btnt", source="MONDO:superClassOf"} +xref: OMIM:614464 {source="Orphanet:220493", source="Orphanet:220493/btnt", source="MONDO:superClassOf"} +xref: OMIM:614970 {source="Orphanet:220493", source="Orphanet:220493/btnt", source="MONDO:superClassOf"} +xref: OMIM:617121 {source="Orphanet:220493", source="Orphanet:220493/btnt", source="MONDO:superClassOf"} xref: Orphanet:220493 {source="MONDO:equivalentTo"} xref: SCTID:716998009 {source="MONDO:equivalentTo"} xref: UMLS:C1837713 {source="GARD:0010168", source="MONDO:superClassOf"} @@ -321317,7 +321158,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2207"} synonym: "hereditary primary hyperparathyroidism (disease)" EXACT [MONDO:patterns/hereditary] xref: GARD:0002837 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E21.0 {source="ORDO:2207/attributed", source="ORDO:2207/ntbt", source="Orphanet:2207"} +xref: ICD10CM:E21.0 {source="Orphanet:2207", source="Orphanet:2207/attributed", source="Orphanet:2207/ntbt"} xref: Orphanet:2207 {source="MONDO:equivalentTo"} xref: UMLS:CN201220 {source="MONDO:equivalentTo"} is_a: MONDO:0016166 {source="MONDO:Redundant", source="Orphanet:2207"} ! genetic hyperparathyroidism @@ -321336,10 +321177,10 @@ synonym: "maternal hyperphenylalaninemia" EXACT [Orphanet:2209] synonym: "maternal PKU" EXACT [Orphanet:2209] synonym: "phenylketonuric embryopathy" EXACT [Orphanet:2209] xref: GARD:0003413 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E70.1 {source="ORDO:2209/attributed", source="ORDO:2209/ntbt", source="Orphanet:2209"} -xref: OMIM:261600 {source="MONDO:subClassOf", source="ORDO:2209/ntbt", source="Orphanet:2209"} +xref: ICD10CM:E70.1 {source="Orphanet:2209", source="Orphanet:2209/attributed", source="Orphanet:2209/ntbt"} +xref: OMIM:261600 {source="MONDO:subClassOf", source="Orphanet:2209", source="Orphanet:2209/ntbt"} xref: Orphanet:2209 {source="MONDO:equivalentTo"} -xref: UMLS:C0085547 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2209", source="ORDO:2209/e"} +xref: UMLS:C0085547 {source="Orphanet:2209/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2209"} is_a: MONDO:0009861 ! phenylketonuria is_a: MONDO:0015323 {source="Orphanet:2209"} ! teratogenic Pierre Robin syndrome is_a: MONDO:0016678 {source="Orphanet:2209"} ! maternal disease-related embryofetopathy @@ -321362,13 +321203,13 @@ xref: DOID:10223 {source="EFO:0000398", source="MONDO:equivalentTo"} xref: EFO:0000398 {source="MONDO:equivalentTo"} xref: GARD:0006263 {source="MONDO:equivalentTo"} xref: ICD10CM:M33 {source="DOID:10223"} -xref: ICD10CM:M33.0 {source="ORDO:221/ntbt", source="Orphanet:221"} -xref: ICD10CM:M33.1 {source="ORDO:221/ntbt", source="Orphanet:221"} +xref: ICD10CM:M33.0 {source="Orphanet:221/ntbt", source="Orphanet:221"} +xref: ICD10CM:M33.1 {source="Orphanet:221/ntbt", source="Orphanet:221"} xref: ICD10CM:M33.9 {source="DOID:10223"} xref: ICD10CM:M33.90 {source="DOID:10223"} xref: ICD9:710.3 {source="EFO:0000398", source="MONDO:equivalentTo", source="i2s", source="DOID:10223"} -xref: MedDRA:10012503 {source="ORDO:221/e", source="Orphanet:221"} -xref: MESH:D003882 {source="EFO:0000398", source="MONDO:equivalentTo", source="ORDO:221/e", source="Orphanet:221", source="DOID:10223"} +xref: MedDRA:10012503 {source="Orphanet:221/e", source="Orphanet:221"} +xref: MESH:D003882 {source="Orphanet:221/e", source="EFO:0000398", source="MONDO:equivalentTo", source="Orphanet:221", source="DOID:10223"} xref: NCIT:C26744 {source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"} xref: Orphanet:221 {source="MONDO:equivalentTo", source="GARD:0006263"} xref: SCTID:156456005 {source="DOID:10223"} @@ -321377,7 +321218,7 @@ xref: SCTID:201448000 {source="DOID:10223"} xref: SCTID:203795006 {source="DOID:10223"} xref: SCTID:38826005 {source="DOID:10223"} xref: SCTID:396230008 {source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"} -xref: UMLS:C0011633 {source="MONDO:equivalentTo", source="NCIT:C26744", source="ORDO:221/e", source="Orphanet:221", source="DOID:10223"} +xref: UMLS:C0011633 {source="Orphanet:221/e", source="MONDO:equivalentTo", source="NCIT:C26744", source="Orphanet:221", source="DOID:10223"} xref: UMLS:C0221056 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221"} is_a: MONDO:0005554 {source="https://orcid.org/0000-0002-0736-9199"} ! rheumatic disorder is_a: MONDO:0019127 {source="MESH:D003882", source="linkedlifedata"} ! polymyositis @@ -321400,7 +321241,7 @@ synonym: "Poikiloderma Atrophicans and Cataract" RELATED [OMIM:618625] synonym: "poikiloderma of Rothmund-Thomson type 1" EXACT [Orphanet:221008] synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1" RELATED [OMIM:618625] synonym: "RTS1" EXACT ABBREVIATION [Orphanet:221008] -xref: ICD10CM:Q82.8 {source="ORDO:221008/attributed", source="ORDO:221008/ntbt", source="Orphanet:221008"} +xref: ICD10CM:Q82.8 {source="Orphanet:221008", source="Orphanet:221008/attributed", source="Orphanet:221008/ntbt"} xref: OMIM:618625 {source="MONDO:equivalentTo"} xref: Orphanet:221008 {source="OMIM:618625", source="MONDO:equivalentTo"} xref: UMLS:CN201233 {source="MONDO:equivalentTo"} @@ -321414,8 +321255,8 @@ subset: ordo_clinical_subtype {source="Orphanet:221016"} synonym: "poikiloderma of Rothmund-Thomson type 2" EXACT [Orphanet:221016] synonym: "Rothmund-Thomson syndrome, type 2" EXACT [OMIM:268400, OMIM:genemap2] synonym: "RTS2" EXACT ABBREVIATION [Orphanet:221016] -xref: ICD10CM:Q82.8 {source="ORDO:221016/attributed", source="ORDO:221016/ntbt", source="Orphanet:221016"} -xref: OMIM:268400 {source="ORDO:2909/e", source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo"} +xref: ICD10CM:Q82.8 {source="Orphanet:221016", source="Orphanet:221016/attributed", source="Orphanet:221016/ntbt"} +xref: OMIM:268400 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} xref: Orphanet:221016 {source="MONDO:equivalentTo"} xref: UMLS:CN201234 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder @@ -321438,14 +321279,14 @@ synonym: "metabolic bone disease" EXACT [NCIT:C97045] synonym: "metabolic bone disorder" EXACT [NCIT:C97045] xref: EFO:1001809 {source="MONDO:equivalentTo"} xref: GARD:0006971 {source="MONDO:equivalentTo"} -xref: ICD10CM:G37.1 {source="ORDO:221074/e", source="Orphanet:221074"} +xref: ICD10CM:G37.1 {source="Orphanet:221074/e", source="Orphanet:221074"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10026828 {source="ORDO:221074/e", source="Orphanet:221074"} -xref: MESH:D054319 {source="MONDO:equivalentTo", source="ORDO:221074/e", source="Orphanet:221074"} +xref: MedDRA:10026828 {source="Orphanet:221074/e", source="Orphanet:221074"} +xref: MESH:D054319 {source="Orphanet:221074/e", source="MONDO:equivalentTo", source="Orphanet:221074"} xref: NCIT:C97045 {source="MONDO:equivalentTo"} xref: Orphanet:221074 {source="MONDO:equivalentTo"} xref: SCTID:386766007 {source="MONDO:equivalentTo"} -xref: UMLS:C0238265 {source="MONDO:equivalentTo", source="ORDO:221074/e", source="Orphanet:221074"} +xref: UMLS:C0238265 {source="Orphanet:221074/e", source="MONDO:equivalentTo", source="Orphanet:221074"} is_a: MONDO:0005559 {source="Orphanet:221074"} ! neurodegenerative disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015918"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease xsd:anyURI {source="GARD:0006971"} @@ -321470,13 +321311,13 @@ synonym: "Glossovasopharyngeal neuralgia" EXACT [Orphanet:221098] synonym: "neuralgia of glossopharyngeal nerve" EXACT [MONDO:design_pattern] xref: DOID:14423 {source="MONDO:equivalentTo"} xref: GARD:0006519 {source="MONDO:equivalentTo"} -xref: ICD10CM:G52.1 {source="Orphanet:221098", source="DOID:14423", source="ORDO:221098/ntbt"} +xref: ICD10CM:G52.1 {source="Orphanet:221098", source="Orphanet:221098/ntbt", source="DOID:14423"} xref: ICD9:352.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:14423"} -xref: MedDRA:10018391 {source="Orphanet:221098", source="ORDO:221098/e"} +xref: MedDRA:10018391 {source="Orphanet:221098", source="Orphanet:221098/e"} xref: MESH:D020435 {source="DOID:14423"} xref: Orphanet:221098 {source="MONDO:equivalentTo"} xref: SCTID:43763009 {source="MONDO:equivalentTo", source="DOID:14423"} -xref: UMLS:C0154731 {source="Orphanet:221098", source="MONDO:equivalentTo", source="DOID:14423", source="ORDO:221098/e"} +xref: UMLS:C0154731 {source="Orphanet:221098", source="MONDO:equivalentTo", source="Orphanet:221098/e", source="DOID:14423"} is_a: MONDO:0002639 {source="DOID:14423", source="MONDO:Redundant", source="linkedlifedata"} ! glossopharyngeal nerve disorder is_a: MONDO:0016374 {source="MONDO:Redundant", source="Orphanet:221098"} ! cranial neuralgia intersection_of: MONDO:0021667 ! neuralgia @@ -321488,7 +321329,7 @@ id: MONDO:0016373 name: isolated facial myokymia comment: Editor note: todo check MESH subset: ordo_disease {source="Orphanet:221106"} -xref: ICD10CM:G51.4 {source="MONDO:equivalentTo", source="ORDO:221106/e", source="Orphanet:221106"} +xref: ICD10CM:G51.4 {source="MONDO:equivalentTo", source="Orphanet:221106", source="Orphanet:221106/e"} xref: MESH:D020385 xref: Orphanet:221106 {source="MONDO:equivalentTo"} xref: UMLS:C0270871 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221106"} @@ -321505,7 +321346,7 @@ synonym: "facial neuralgia" EXACT [Orphanet:221109] synonym: "neuralgia of cranial neuron projection bundle" EXACT [MONDO:design_pattern] xref: Orphanet:221109 {source="MONDO:equivalentTo"} xref: SCTID:23096007 {source="MONDO:equivalentTo"} -xref: UMLS:C0010269 {source="MONDO:equivalentTo", source="Orphanet:221109", source="ORDO:221109/e"} +xref: UMLS:C0010269 {source="Orphanet:221109/e", source="MONDO:equivalentTo", source="Orphanet:221109"} xref: UMLS:C0015467 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:221109"} is_a: MONDO:0003569 {source="MONDO:Redundant", source="linkedlifedata"} ! cranial nerve neuropathy is_a: MONDO:0015923 {source="Orphanet:221109"} ! acquired peripheral neuropathy @@ -321525,7 +321366,7 @@ is_a: MONDO:0015923 {source="Orphanet:221114"} ! acquired peripheral neuropathy id: MONDO:0016376 name: confetti-like macular atrophy subset: ordo_disease {source="Orphanet:221142"} -xref: ICD10CM:L90.8 {source="Orphanet:221142", source="ORDO:221142/ntbt"} +xref: ICD10CM:L90.8 {source="Orphanet:221142", source="Orphanet:221142/ntbt"} xref: Orphanet:221142 {source="MONDO:equivalentTo"} is_a: MONDO:0016434 {source="Orphanet:221142"} ! acquired dermis elastic tissue disorder @@ -321537,8 +321378,8 @@ subset: gard_rare {source="GARD:0011967"} subset: ordo_disease {source="Orphanet:221150"} synonym: "PTHSL" EXACT ABBREVIATION [MONDO:cjm] xref: GARD:0011967 {source="MONDO:equivalentTo"} -xref: OMIM:610042 {source="MONDO:superClassOf", source="Orphanet:221150", source="ORDO:221150/ntbt"} -xref: OMIM:614325 {source="MONDO:superClassOf", source="Orphanet:221150", source="ORDO:221150/btnt"} +xref: OMIM:610042 {source="MONDO:superClassOf", source="Orphanet:221150/ntbt", source="Orphanet:221150"} +xref: OMIM:614325 {source="MONDO:superClassOf", source="Orphanet:221150/btnt", source="Orphanet:221150"} xref: Orphanet:221150 {source="MONDO:equivalentTo"} xref: UMLS:CN239445 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:221150", source="indirect"} ! syndromic intellectual disability @@ -321555,7 +321396,7 @@ subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2216"} synonym: "hyperthermia induced defects" RELATED [GARD:0002856] xref: GARD:0002856 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="ORDO:2216/ntbt", source="Orphanet:2216"} +xref: ICD10CM:Q86.8 {source="Orphanet:2216", source="Orphanet:2216/ntbt"} xref: Orphanet:2216 {source="MONDO:equivalentTo", source="GARD:0002856"} xref: SCTID:765138001 {source="MONDO:equivalentTo"} xref: UMLS:C0265377 {source="MONDO:equivalentTo", source="GARD:0002856"} @@ -321572,7 +321413,7 @@ subset: ordo_disease {source="Orphanet:222"} xref: GARD:0002188 {source="MONDO:equivalentTo"} xref: Orphanet:222 {source="MONDO:equivalentTo"} xref: SCTID:238733003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406464 {source="MONDO:equivalentTo", source="ORDO:222/e", source="Orphanet:222"} +xref: UMLS:C0406464 {source="Orphanet:222/e", source="MONDO:equivalentTo", source="Orphanet:222"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp xsd:anyURI {source="GARD:0002188"} @@ -321584,7 +321425,7 @@ subset: gard_rare {source="GARD:0002864"} subset: ordo_disease {source="Orphanet:2221"} synonym: "hypertrichosis lanuginosa, acquired" RELATED [GARD:0002864] xref: GARD:0002864 {source="MONDO:equivalentTo"} -xref: ICD10CM:L68.1 {source="Orphanet:2221", source="ORDO:2221/e", source="MONDO:equivalentTo"} +xref: ICD10CM:L68.1 {source="Orphanet:2221", source="MONDO:equivalentTo", source="Orphanet:2221/e"} xref: Orphanet:2221 {source="MONDO:equivalentTo"} xref: SCTID:25967007 {source="MONDO:equivalentTo"} xref: UMLS:C0343072 {source="GARD:0002864", source="MONDO:notFoundInDiseaseSubset"} @@ -321602,14 +321443,14 @@ synonym: "hypertrichosis lanuginosa congenita" EXACT [OMIM:145700] synonym: "hypertrichosis lanuginosa universalis" RELATED [GARD:0002865] synonym: "hypertrichosis universalis" EXACT [OMIM:145700, Orphanet:2222] xref: GARD:0002865 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q84.2 {source="Orphanet:2222", source="ORDO:2222/attributed", source="ORDO:2222/ntbt"} -xref: MESH:C538389 {source="ORDO:2222/e", source="Orphanet:2222", source="MONDO:equivalentTo"} -xref: OMIM:145700 {source="Orphanet:2222", source="MONDO:equivalentTo", source="ORDO:2222/btnt"} -xref: OMIM:145701 {source="Orphanet:2222", source="MONDO:superClassOf", source="ORDO:2222/btnt"} -xref: OMIM:307150 {source="Orphanet:2222", source="MONDO:superClassOf", source="ORDO:2222/btnt"} +xref: ICD10CM:Q84.2 {source="Orphanet:2222/attributed", source="Orphanet:2222/ntbt", source="Orphanet:2222"} +xref: MESH:C538389 {source="Orphanet:2222", source="MONDO:equivalentTo", source="Orphanet:2222/e"} +xref: OMIM:145700 {source="Orphanet:2222/btnt", source="Orphanet:2222", source="MONDO:equivalentTo"} +xref: OMIM:145701 {source="Orphanet:2222/btnt", source="Orphanet:2222", source="MONDO:superClassOf"} +xref: OMIM:307150 {source="Orphanet:2222/btnt", source="Orphanet:2222", source="MONDO:superClassOf"} xref: Orphanet:2222 {source="MONDO:equivalentTo", source="OMIM:145700"} xref: SCTID:201163007 {source="MONDO:equivalentTo"} -xref: UMLS:C0235864 {source="ORDO:2222/e", source="Orphanet:2222", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:145700"} +xref: UMLS:C0235864 {source="Orphanet:2222", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2222/e", source="OMIM:145700"} xref: UMLS:C2936812 {source="Orphanet:2222", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019280 {source="MESH:C538389", source="Orphanet:2222", source="linkedlifedata"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:2222"} ! ectodermal dysplasia syndrome @@ -321637,17 +321478,17 @@ synonym: "diabetes insipidus nephrogenic X-linked" RELATED [GARD:0007178] synonym: "vasopressin-resistant diabetes insipidus" RELATED [DOID:12387] xref: DOID:12387 {source="MONDO:equivalentTo"} xref: GARD:0007178 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N25.1 {source="MONDO:equivalentTo", source="ORDO:223/specific", source="DOID:12387", source="ORDO:223/e", source="Orphanet:223"} +xref: ICD10CM:N25.1 {source="Orphanet:223/specific", source="Orphanet:223/e", source="MONDO:equivalentTo", source="DOID:12387", source="Orphanet:223"} xref: ICD9:588.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:12387"} -xref: MedDRA:10029147 {source="ORDO:223/e", source="Orphanet:223"} -xref: MESH:D018500 {source="MONDO:equivalentTo", source="DOID:12387", source="ORDO:223/e", source="Orphanet:223"} +xref: MedDRA:10029147 {source="Orphanet:223/e", source="Orphanet:223"} +xref: MESH:D018500 {source="Orphanet:223/e", source="MONDO:equivalentTo", source="DOID:12387", source="Orphanet:223"} xref: NCIT:C84919 {source="MONDO:equivalentTo", source="DOID:12387"} -xref: OMIM:125800 {source="MONDO:superClassOf", source="DOID:12387", source="ORDO:223/btnt", source="Orphanet:223"} -xref: OMIM:304800 {source="MONDO:superClassOf", source="DOID:12387", source="ORDO:223/btnt", source="Orphanet:223"} +xref: OMIM:125800 {source="MONDO:superClassOf", source="Orphanet:223/btnt", source="DOID:12387", source="Orphanet:223"} +xref: OMIM:304800 {source="MONDO:superClassOf", source="Orphanet:223/btnt", source="DOID:12387", source="Orphanet:223"} xref: Orphanet:223 {source="MONDO:equivalentTo", source="DOID:12387"} xref: SCTID:111395007 {source="MONDO:equivalentTo", source="DOID:12387"} xref: SCTID:123294004 {source="DOID:12387"} -xref: UMLS:C0162283 {source="MONDO:equivalentTo", source="NCIT:C84919", source="DOID:12387", source="ORDO:223/e", source="Orphanet:223"} +xref: UMLS:C0162283 {source="Orphanet:223/e", source="MONDO:equivalentTo", source="NCIT:C84919", source="DOID:12387", source="Orphanet:223"} is_a: MONDO:0001343 {source="DOID:12387", source="ICD10CM:N25.1"} ! impaired renal function disease is_a: MONDO:0004782 {source="MESH:D018500", source="NCIT:C84919", source="linkedlifedata"} ! diabetes insipidus is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -321659,7 +321500,7 @@ name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." [Orphanet:2230] subset: ordo_disease {source="Orphanet:2230"} synonym: "Salti-Salem syndrome" EXACT [Orphanet:2230] -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="ORDO:2230/attributed", source="ORDO:2230/ntbt", source="Orphanet:2230"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:2230/attributed", source="Orphanet:2230/ntbt", source="Orphanet:2230"} xref: Orphanet:2230 {source="MONDO:equivalentTo"} xref: SCTID:721842008 {source="MONDO:equivalentTo"} xref: UMLS:CN201280 {source="MONDO:equivalentTo"} @@ -321676,7 +321517,7 @@ synonym: "Cantalamessa-Baldini-Ambrosi syndrome" EXACT [Orphanet:2233] synonym: "primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability" RELATED [GARD:0001078] synonym: "primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" RELATED DEPRECATED [GARD:0001078] xref: GARD:0001078 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2233", source="ORDO:2233/attributed", source="ORDO:2233/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2233/attributed", source="Orphanet:2233/ntbt", source="Orphanet:2233"} xref: MESH:C537981 {source="MONDO:equivalentTo"} xref: Orphanet:2233 {source="MONDO:equivalentTo"} xref: SCTID:721841001 {source="MONDO:equivalentTo"} @@ -321692,7 +321533,7 @@ subset: ordo_disease {source="Orphanet:2235"} synonym: "Chang-Davidson-Carlson syndrome" EXACT [Orphanet:2235] xref: MESH:C538075 {source="MONDO:equivalentTo"} xref: Orphanet:2235 {source="MONDO:equivalentTo"} -xref: UMLS:C2931722 {source="ORDO:2235/e", source="Orphanet:2235", source="MONDO:equivalentTo"} +xref: UMLS:C2931722 {source="Orphanet:2235", source="MONDO:equivalentTo", source="Orphanet:2235/e"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0020240 {source="Orphanet:2235"} ! syndromic retinitis pigmentosa @@ -321733,16 +321574,16 @@ synonym: "hypoparathyroidism, familial" EXACT [OMIMPS:146200] synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:146200] xref: DOID:0111387 {source="MONDO:equivalentTo"} xref: GARD:0002910 {source="MONDO:equivalentTo"} -xref: ICD10CM:E20.8 {source="ORDO:2238/attributed", source="ORDO:2238/ntbt", source="Orphanet:2238"} -xref: MESH:C537156 {source="MONDO:equivalentTo", source="Orphanet:2238", source="ORDO:2238/e"} -xref: OMIM:146200 {source="ORDO:2238/btnt", source="Orphanet:2238", source="MONDO:superClassOf"} -xref: OMIM:307700 {source="ORDO:2238/btnt", source="Orphanet:2238", source="MONDO:superClassOf"} -xref: OMIM:601198 {source="ORDO:2238/btnt", source="Orphanet:2238", source="MONDO:superClassOf"} -xref: OMIM:615361 {source="ORDO:2238/btnt", source="Orphanet:2238", source="MONDO:superClassOf"} +xref: ICD10CM:E20.8 {source="Orphanet:2238", source="Orphanet:2238/attributed", source="Orphanet:2238/ntbt"} +xref: MESH:C537156 {source="MONDO:equivalentTo", source="Orphanet:2238", source="Orphanet:2238/e"} +xref: OMIM:146200 {source="Orphanet:2238", source="MONDO:superClassOf", source="Orphanet:2238/btnt"} +xref: OMIM:307700 {source="Orphanet:2238", source="MONDO:superClassOf", source="Orphanet:2238/btnt"} +xref: OMIM:601198 {source="Orphanet:2238", source="MONDO:superClassOf", source="Orphanet:2238/btnt"} +xref: OMIM:615361 {source="Orphanet:2238", source="MONDO:superClassOf", source="Orphanet:2238/btnt"} xref: OMIMPS:146200 {source="MONDO:equivalentTo"} xref: Orphanet:2238 {source="MONDO:equivalentTo"} xref: SCTID:725036000 {source="MONDO:equivalentTo"} -xref: UMLS:C1832648 {source="MONDO:equivalentTo", source="Orphanet:2238", source="ORDO:2238/e"} +xref: UMLS:C1832648 {source="MONDO:equivalentTo", source="Orphanet:2238", source="Orphanet:2238/e"} is_a: MONDO:0016165 {source="Orphanet:2238"} ! genetic hypoparathyroidism is_a: MONDO:0019052 ! inborn errors of metabolism relationship: disease_has_basis_in_disruption_of GO:0035898 ! parathyroid hormone secretion @@ -321759,13 +321600,13 @@ synonym: "congenital diabetes mellitus" EXACT [NCIT:C99248] synonym: "diabetes mellitus syndrome in newborn infant" EXACT [DOID:11717] synonym: "NDM" EXACT ABBREVIATION [Orphanet:224] xref: DOID:11717 {source="MONDO:equivalentTo"} -xref: ICD10CM:P70.2 {source="Orphanet:224", source="MONDO:equivalentTo", source="DOID:11717", source="ORDO:224/specific", source="ORDO:224/e"} +xref: ICD10CM:P70.2 {source="Orphanet:224", source="MONDO:equivalentTo", source="Orphanet:224/e", source="DOID:11717", source="Orphanet:224/specific"} xref: ICD9:775.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:11717"} -xref: MedDRA:10028933 {source="Orphanet:224", source="ORDO:224/e"} +xref: MedDRA:10028933 {source="Orphanet:224", source="Orphanet:224/e"} xref: NCIT:C99248 {source="MONDO:equivalentTo", source="DOID:11717"} xref: Orphanet:224 {source="MONDO:equivalentTo"} xref: SCTID:49817004 {source="MONDO:equivalentTo", source="DOID:11717"} -xref: UMLS:C0158981 {source="Orphanet:224", source="MONDO:equivalentTo", source="DOID:11717", source="ORDO:224/e", source="NCIT:C99248"} +xref: UMLS:C0158981 {source="Orphanet:224", source="MONDO:equivalentTo", source="Orphanet:224/e", source="DOID:11717", source="NCIT:C99248"} is_a: MONDO:0005015 {source="Orphanet:224"} ! diabetes mellitus relationship: has_modifier MONDO:0021136 {source="MONDO:0015967"} ! rare @@ -321778,8 +321619,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2246"} synonym: "cerebellar hypoplasia tapetoretinal degeneration" RELATED [GARD:0001196] xref: DOID:0070339 {source="MONDO:equivalentTo"} xref: GARD:0001196 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:2246", source="ORDO:2246/ntbt"} -xref: OMIM:213000 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:2246", source="ORDO:2246/ntbt", source="GARD:0001196"} +xref: ICD10CM:Q04.3 {source="Orphanet:2246/ntbt", source="Orphanet:2246"} +xref: OMIM:213000 {source="MONDO:subClassOf", source="Orphanet:2246/ntbt", source="MONDO:relatedTo", source="Orphanet:2246", source="GARD:0001196"} xref: Orphanet:2246 {source="MONDO:equivalentTo", source="GARD:0001196"} is_a: MONDO:0005071 {source="GARD:0001196"} ! nervous system disorder property_value: confidence "4.175" xsd:double @@ -321792,8 +321633,8 @@ def: "This syndrome is characterized by the association of severe nasal hypoplas subset: ordo_disease {source="Orphanet:2250"} synonym: "Bosma arhinia-microphthalmia syndrome" EXACT [Orphanet:2250] synonym: "Bosma-Henkin-Christiansen syndrome" EXACT [Orphanet:2250] -xref: ICD10CM:Q87.8 {source="Orphanet:2250", source="ORDO:2250/attributed", source="ORDO:2250/ntbt"} -xref: OMIM:603457 {source="MONDO:subClassOf", source="Orphanet:2250", source="ORDO:2250/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2250/attributed", source="Orphanet:2250/ntbt", source="Orphanet:2250"} +xref: OMIM:603457 {source="MONDO:subClassOf", source="Orphanet:2250/ntbt", source="Orphanet:2250"} xref: Orphanet:2250 {source="MONDO:equivalentTo"} xref: UMLS:CN201299 {source="MONDO:equivalentTo"} is_a: MONDO:0011323 ! arhinia, choanal atresia, and microphthalmia @@ -321810,7 +321651,7 @@ synonym: "acute bilateral striatal necrosis" EXACT [Orphanet:225147] synonym: "sporadic IBSN" EXACT [Orphanet:225147] synonym: "sporadic infantile striatonigral degeneration" EXACT [Orphanet:225147] synonym: "sporadic infantile striatonigral necrosis" EXACT [Orphanet:225147] -xref: ICD10CM:G23.2 {source="Orphanet:225147", source="MONDO:relatedTo", source="ORDO:225147/attributed", source="ORDO:225147/ntbt"} +xref: ICD10CM:G23.2 {source="Orphanet:225147", source="MONDO:relatedTo", source="Orphanet:225147/attributed", source="Orphanet:225147/ntbt"} xref: Orphanet:225147 {source="MONDO:equivalentTo"} is_a: MONDO:0015518 {source="Orphanet:225147"} ! infantile bilateral striatal necrosis @@ -321819,9 +321660,9 @@ id: MONDO:0016395 name: foveal hypoplasia-presenile cataract syndrome subset: ordo_disease {source="Orphanet:2253"} synonym: "O'Donnell-Pappas syndrome" EXACT [Orphanet:2253] -xref: ICD10CM:H26.0 {source="Orphanet:2253", source="ORDO:2253/attributed", source="ORDO:2253/ntbt"} +xref: ICD10CM:H26.0 {source="Orphanet:2253", source="Orphanet:2253/attributed", source="Orphanet:2253/ntbt"} xref: MESH:C537858 {source="MONDO:equivalentTo"} -xref: OMIM:136520 {source="MONDO:subClassOf", source="Orphanet:2253", source="MONDO:relatedTo", source="ORDO:2253/ntbt"} +xref: OMIM:136520 {source="MONDO:subClassOf", source="Orphanet:2253", source="MONDO:relatedTo", source="Orphanet:2253/ntbt"} xref: Orphanet:2253 {source="MONDO:equivalentTo"} xref: UMLS:C2931644 {source="Orphanet:2253", source="MONDO:equivalentTo"} is_a: MONDO:0019118 {source="OWLReasoner:2017", source="indirect"} ! inherited retinal dystrophy @@ -321837,14 +321678,14 @@ synonym: "MRT32" EXACT ABBREVIATION [MONDO:0013701, MONDO:Lexical, OMIM:614339] synonym: "Norman disease" EXACT [Orphanet:2254] synonym: "PCH1" EXACT ABBREVIATION [Orphanet:2254] xref: GARD:0010704 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="Orphanet:2254", source="ORDO:2254/attributed", source="ORDO:2254/ntbt"} -xref: MESH:C548069 {source="Orphanet:2254", source="ORDO:2254/e", source="MONDO:equivalentTo"} -xref: OMIM:607596 {source="Orphanet:2254", source="MONDO:superClassOf", source="ORDO:2254/btnt"} -xref: OMIM:614678 {source="Orphanet:2254", source="MONDO:superClassOf", source="ORDO:2254/btnt"} -xref: OMIM:616081 {source="Orphanet:2254", source="MONDO:superClassOf", source="ORDO:2254/btnt"} +xref: ICD10CM:Q04.3 {source="Orphanet:2254", source="Orphanet:2254/attributed", source="Orphanet:2254/ntbt"} +xref: MESH:C548069 {source="Orphanet:2254", source="MONDO:equivalentTo", source="Orphanet:2254/e"} +xref: OMIM:607596 {source="Orphanet:2254", source="Orphanet:2254/btnt", source="MONDO:superClassOf"} +xref: OMIM:614678 {source="Orphanet:2254", source="Orphanet:2254/btnt", source="MONDO:superClassOf"} +xref: OMIM:616081 {source="Orphanet:2254", source="Orphanet:2254/btnt", source="MONDO:superClassOf"} xref: Orphanet:2254 {source="MONDO:equivalentTo"} xref: SCTID:718610008 {source="MONDO:equivalentTo"} -xref: UMLS:C1843504 {source="Orphanet:2254", source="ORDO:2254/e", source="MONDO:equivalentTo"} +xref: UMLS:C1843504 {source="Orphanet:2254", source="MONDO:equivalentTo", source="Orphanet:2254/e"} xref: UMLS:C3280537 {source="OMIM:614339", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0019502 {source="DC-OMIM:614339"} ! autosomal recessive non-syndromic intellectual disability @@ -321977,7 +321818,7 @@ synonym: "Oligomeganephronic renal hypoplasia" EXACT [DOID:0111142, Orphanet:226 xref: DOID:0111142 {source="MONDO:equivalentTo"} xref: GARD:0004066 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:4066 {source="DOID:0111142"} -xref: ICD10CM:Q60.4 {source="ORDO:2260/ntbt", source="MONDO:relatedTo", source="DOID:0111142", source="Orphanet:2260"} +xref: ICD10CM:Q60.4 {source="MONDO:relatedTo", source="DOID:0111142", source="Orphanet:2260/ntbt", source="Orphanet:2260"} xref: NCIT:C123202 {source="MONDO:equivalentTo"} xref: Orphanet:2260 {source="MONDO:equivalentTo", source="DOID:0111142"} xref: SCTID:18417009 {source="MONDO:equivalentTo"} @@ -321990,8 +321831,8 @@ name: permanent congenital hypothyroidism def: "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." [Orphanet:226292] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:226292"} -xref: ICD10CM:E03.0 {source="ORDO:226292/btnt", source="Orphanet:226292", source="ORDO:226292/specific"} -xref: ICD10CM:E03.1 {source="ORDO:226292/btnt", source="Orphanet:226292", source="ORDO:226292/specific"} +xref: ICD10CM:E03.0 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"} +xref: ICD10CM:E03.1 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"} xref: Orphanet:226292 {source="MONDO:equivalentTo"} is_a: MONDO:0015514 {source="Orphanet:226292"} ! genetic endocrine growth disease is_a: MONDO:0018612 {source="Orphanet:226292"} ! congenital hypothyroidism @@ -322004,8 +321845,8 @@ name: primary congenital hypothyroidism def: "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:226295] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:226295"} -xref: ICD10CM:E03.0 {source="ORDO:226295/attributed", source="ORDO:226295/ntbt", source="Orphanet:226295"} -xref: ICD10CM:E03.1 {source="ORDO:226295/attributed", source="ORDO:226295/ntbt", source="Orphanet:226295"} +xref: ICD10CM:E03.0 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"} +xref: ICD10CM:E03.1 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"} xref: Orphanet:226295 {source="MONDO:equivalentTo"} is_a: MONDO:0016408 {source="Orphanet:226295"} ! permanent congenital hypothyroidism relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -322025,7 +321866,7 @@ synonym: "thyroid stimulating hormone deficiency" EXACT [NCIT:C113144] synonym: "thyrotropin deficiency" EXACT [NCIT:C113144] synonym: "TSH deficiency" EXACT [NCIT:C113144] xref: GARD:0012280 {source="MONDO:equivalentTo"} -xref: ICD10CM:E03.1 {source="Orphanet:226298", source="ORDO:226298/attributed", source="ORDO:226298/ntbt"} +xref: ICD10CM:E03.1 {source="Orphanet:226298/attributed", source="Orphanet:226298/ntbt", source="Orphanet:226298"} xref: NCIT:C113144 {source="MONDO:equivalentTo"} xref: Orphanet:226298 {source="MONDO:equivalentTo"} xref: UMLS:C0271801 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C113144"} @@ -322041,7 +321882,7 @@ id: MONDO:0016411 name: hypothyroidism due to deficient transcription factors involved in pituitary development or function def: "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." [Orphanet:226307] subset: ordo_disease {source="Orphanet:226307"} -xref: ICD10CM:E03.1 {source="ORDO:226307/attributed", source="ORDO:226307/ntbt", source="Orphanet:226307"} +xref: ICD10CM:E03.1 {source="Orphanet:226307", source="Orphanet:226307/attributed", source="Orphanet:226307/ntbt"} xref: Orphanet:226307 {source="MONDO:equivalentTo"} xref: UMLS:CN201345 {source="MONDO:equivalentTo"} is_a: MONDO:0016410 {source="Orphanet:226307"} ! central congenital hypothyroidism @@ -322059,7 +321900,7 @@ is_a: MONDO:0016408 {source="Orphanet:226310"} ! permanent congenital hypothyroi id: MONDO:0016413 name: congenital hypothyroidism due to maternal intake of antithyroid drugs subset: ordo_disease {source="Orphanet:226313"} -xref: ICD10CM:P72.2 {source="Orphanet:226313", source="ORDO:226313/ntbt"} +xref: ICD10CM:P72.2 {source="Orphanet:226313", source="Orphanet:226313/ntbt"} xref: Orphanet:226313 {source="MONDO:equivalentTo"} is_a: MONDO:0016555 {source="Orphanet:226313"} ! transient congenital hypothyroidism due to maternal factor relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -322089,7 +321930,7 @@ subset: gard_rare {source="GARD:0001872"} subset: ordo_morphological_anomaly {source="Orphanet:227"} synonym: "Diphallus" RELATED [GARD:0001872] xref: GARD:0001872 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q55.6 {source="Orphanet:227", source="ORDO:227/ntbt"} +xref: ICD10CM:Q55.6 {source="Orphanet:227", source="Orphanet:227/ntbt"} xref: ICD9:752.69 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:227 {source="MONDO:equivalentTo"} xref: SCTID:253851000 {source="MONDO:equivalentTo"} @@ -322101,7 +321942,7 @@ id: MONDO:0016417 name: congenital ichthyosis-microcephalus-tetraplegia syndrome subset: ordo_disease {source="Orphanet:2271"} synonym: "congenital ichthyosis-microcephalus-quadriplegia syndrome" EXACT [Orphanet:2271] -xref: ICD10CM:Q87.8 {source="ORDO:2271/attributed", source="ORDO:2271/ntbt", source="Orphanet:2271"} +xref: ICD10CM:Q87.8 {source="Orphanet:2271/attributed", source="Orphanet:2271/ntbt", source="Orphanet:2271"} xref: Orphanet:2271 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0017270 ! autosomal ichthyosis syndrome @@ -322117,7 +321958,7 @@ synonym: "MSA, cerebellar type" EXACT [Orphanet:227510] synonym: "MSA-c" EXACT [Orphanet:227510] synonym: "sporadic olivopontocerebellar atrophy type 1" EXACT [Orphanet:227510] synonym: "sporadic OPCA type 1" EXACT [Orphanet:227510] -xref: ICD10CM:G90.3 {source="ORDO:227510/ntbt", source="Orphanet:227510"} +xref: ICD10CM:G90.3 {source="Orphanet:227510/ntbt", source="Orphanet:227510"} xref: Orphanet:227510 {source="MONDO:equivalentTo"} xref: UMLS:CN201371 {source="MONDO:equivalentTo"} is_a: MONDO:0007803 {source="Orphanet:227510"} ! multiple system atrophy @@ -322146,22 +321987,22 @@ synonym: "familial cancer of breast" EXACT [NCIT:C4503] synonym: "familial cancer of the breast" EXACT [NCIT:C4503] synonym: "hereditary breast cancer" EXACT [NCIT:C4503] synonym: "hereditary breast carcinoma" EXACT CLINGEN_PREFERRED [MONDO:patterns/hereditary, NCIT:C4503, Orphanet:227535] -xref: ICD10CM:C50.0 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.1 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.2 {source="MONDO:relatedTo", source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.3 {source="MONDO:relatedTo", source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.4 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.5 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.6 {source="MONDO:relatedTo", source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} -xref: ICD10CM:C50.8 {source="Orphanet:227535", source="ORDO:227535/attributed", source="ORDO:227535/btnt"} +xref: ICD10CM:C50.0 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} +xref: ICD10CM:C50.1 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} +xref: ICD10CM:C50.2 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"} +xref: ICD10CM:C50.3 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"} +xref: ICD10CM:C50.4 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} +xref: ICD10CM:C50.5 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} +xref: ICD10CM:C50.6 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"} +xref: ICD10CM:C50.8 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} xref: MESH:C562840 {source="MONDO:equivalentTo"} xref: NCIT:C4503 {source="MONDO:equivalentTo"} -xref: OMIM:114480 {source="Orphanet:227535", source="MONDO:equivalentTo", source="ORDO:227535/ntbt"} -xref: OMIM:600048 {source="Orphanet:227535", source="MONDO:superClassOf", source="ORDO:227535/btnt"} -xref: OMIM:604370 {source="MONDO:subClassOf", source="Orphanet:227535", source="MONDO:superClassOf", source="ORDO:227535/ntbt"} -xref: OMIM:605365 {source="Orphanet:227535", source="MONDO:superClassOf", source="ORDO:227535/btnt"} -xref: OMIM:612555 {source="MONDO:subClassOf", source="Orphanet:227535", source="MONDO:superClassOf", source="ORDO:227535/ntbt"} -xref: OMIM:613399 {source="MONDO:subClassOf", source="Orphanet:227535", source="MONDO:superClassOf", source="ORDO:227535/ntbt"} +xref: OMIM:114480 {source="Orphanet:227535/ntbt", source="Orphanet:227535", source="MONDO:equivalentTo"} +xref: OMIM:600048 {source="Orphanet:227535/btnt", source="Orphanet:227535", source="MONDO:superClassOf"} +xref: OMIM:604370 {source="MONDO:subClassOf", source="Orphanet:227535/ntbt", source="Orphanet:227535", source="MONDO:superClassOf"} +xref: OMIM:605365 {source="Orphanet:227535/btnt", source="Orphanet:227535", source="MONDO:superClassOf"} +xref: OMIM:612555 {source="MONDO:subClassOf", source="Orphanet:227535/ntbt", source="Orphanet:227535", source="MONDO:superClassOf"} +xref: OMIM:613399 {source="MONDO:subClassOf", source="Orphanet:227535/ntbt", source="Orphanet:227535", source="MONDO:superClassOf"} xref: Orphanet:227535 {source="MONDO:equivalentTo"} xref: SCTID:254843006 {source="MONDO:equivalentTo"} xref: UMLS:C0346153 {source="Orphanet:227535", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C4503"} @@ -322177,7 +322018,7 @@ name: familial flecked retinopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:227786"} synonym: "hereditary flecked retinopathy" EXACT [Orphanet:227786] -xref: ICD10CM:H35.5 {source="Orphanet:227786", source="MONDO:relatedTo", source="ORDO:227786/attributed", source="ORDO:227786/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:227786", source="MONDO:relatedTo", source="Orphanet:227786/attributed", source="Orphanet:227786/ntbt"} xref: Orphanet:227786 {source="MONDO:equivalentTo"} xref: UMLS:CN226924 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="Orphanet:227786"} ! genetic macular dystrophy @@ -322187,10 +322028,10 @@ id: MONDO:0016421 name: toxic oil syndrome def: "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates." [Orphanet:227972] subset: ordo_disease {source="Orphanet:227972"} -xref: MedDRA:10051222 {source="Orphanet:227972", source="ORDO:227972/e"} +xref: MedDRA:10051222 {source="Orphanet:227972/e", source="Orphanet:227972"} xref: Orphanet:227972 {source="MONDO:equivalentTo"} xref: SCTID:239910001 {source="MONDO:equivalentTo"} -xref: UMLS:C0409998 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:227972", source="ORDO:227972/e"} +xref: UMLS:C0409998 {source="Orphanet:227972/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:227972"} is_a: MONDO:0029000 {source="Orphanet:227972"} ! poisoning relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare @@ -322206,7 +322047,7 @@ synonym: "autoimmune polyglandular syndrome type 3" EXACT [Orphanet:227982] synonym: "PAS3" RELATED ABBREVIATION [GARD:0010980] synonym: "polyglandular autoimmune syndrome type 3" RELATED [GARD:0010980] xref: GARD:0010980 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="ORDO:227982/ntbt", source="Orphanet:227982"} +xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="Orphanet:227982/ntbt", source="Orphanet:227982"} xref: ICD9:258.1 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:227982 {source="MONDO:equivalentTo"} xref: SCTID:449731009 {source="MONDO:equivalentTo"} @@ -322225,7 +322066,7 @@ synonym: "APS type 4" EXACT [Orphanet:227990] synonym: "APS4" EXACT ABBREVIATION [Orphanet:227990] synonym: "autoimmune polyendocrine syndrome type 4" EXACT [Orphanet:227990] synonym: "autoimmune polyglandular syndrome type 4" EXACT [Orphanet:227990] -xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="ORDO:227990/ntbt", source="Orphanet:227990"} +xref: ICD10CM:E31.0 {source="MONDO:subClassOf", source="Orphanet:227990", source="Orphanet:227990/ntbt"} xref: ICD9:258.1 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:227990 {source="MONDO:equivalentTo"} xref: SCTID:449730005 {source="MONDO:equivalentTo"} @@ -322242,7 +322083,7 @@ subset: ordo_disease {source="Orphanet:228012"} synonym: "progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012] synonym: "progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012] synonym: "progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012] -xref: OMIM:606346 {source="ORDO:228012/ntbt", source="MONDO:relatedTo", source="MONDO:OtherRelationship", source="Orphanet:228012"} +xref: OMIM:606346 {source="MONDO:relatedTo", source="MONDO:OtherRelationship", source="Orphanet:228012", source="Orphanet:228012/ntbt"} xref: Orphanet:228012 {source="MONDO:equivalentTo"} xref: UMLS:CN201381 {source="MONDO:equivalentTo"} is_a: MONDO:0005045 ! hypertrophic cardiomyopathy @@ -322255,7 +322096,7 @@ id: MONDO:0016425 name: Hughes-Stovin syndrome def: "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." [Orphanet:228116] subset: ordo_disease {source="Orphanet:228116"} -xref: ICD10CM:I28.8 {source="Orphanet:228116", source="ORDO:228116/ntbt"} +xref: ICD10CM:I28.8 {source="Orphanet:228116", source="Orphanet:228116/ntbt"} xref: Orphanet:228116 {source="MONDO:equivalentTo"} xref: SCTID:721226005 {source="MONDO:equivalentTo"} xref: UMLS:CN201382 {source="MONDO:equivalentTo"} @@ -322272,11 +322113,11 @@ synonym: "Fusarium infection" EXACT [Orphanet:228119] synonym: "Fusarium infectious disease" EXACT [] xref: DOID:0050289 {source="MONDO:equivalentTo"} xref: EFO:1001795 {source="MONDO:equivalentTo"} -xref: MedDRA:10051919 {source="Orphanet:228119", source="ORDO:228119/e"} +xref: MedDRA:10051919 {source="Orphanet:228119", source="Orphanet:228119/e"} xref: MESH:D060585 {source="MONDO:equivalentTo"} xref: Orphanet:228119 {source="MONDO:equivalentTo"} xref: SCTID:64250002 {source="MONDO:equivalentTo"} -xref: UMLS:C0276758 {source="Orphanet:228119", source="ORDO:228119/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0276758 {source="Orphanet:228119", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228119/e"} is_a: MONDO:0002041 {source="Orphanet:228119"} ! fungal infectious disease is_a: MONDO:0002312 {source="DOID:0050289"} ! opportunistic mycosis intersection_of: MONDO:0005550 ! infectious disease @@ -322328,9 +322169,9 @@ xref: DOID:0060215 {source="MONDO:equivalentTo"} xref: GARD:0005885 {source="MONDO:equivalentTo"} xref: ICD10CM:G31.81 {source="DOID:0060215"} xref: ICD10CM:G37.0 {source="DOID:0060215"} -xref: ICD10CM:G37.5 {source="ORDO:228165/e", source="Orphanet:228165"} +xref: ICD10CM:G37.5 {source="Orphanet:228165/e", source="Orphanet:228165"} xref: ICD9:341.1 {source="DOID:0060215", source="MONDO:directSiblingOf"} -xref: MedDRA:10010252 {source="ORDO:228165/e", source="Orphanet:228165"} +xref: MedDRA:10010252 {source="Orphanet:228165/e", source="Orphanet:228165"} xref: MESH:D002549 {source="DOID:0060215"} xref: NCIT:C35257 {source="DOID:0060215", source="MONDO:directSiblingOf"} xref: NCIT:C84670 {source="DOID:0060215"} @@ -322343,7 +322184,7 @@ xref: SCTID:230380005 {source="DOID:0060215", source="MONDO:equivalentTo"} xref: SCTID:267702006 {source="DOID:0060215"} xref: SCTID:44875002 {source="DOID:0060215"} xref: SCTID:49692006 {source="DOID:0060215", source="MONDO:directSiblingOf"} -xref: UMLS:C0004712 {source="DOID:0060215", source="MONDO:equivalentTo", source="ORDO:228165/e", source="Orphanet:228165"} +xref: UMLS:C0004712 {source="Orphanet:228165/e", source="DOID:0060215", source="MONDO:equivalentTo", source="Orphanet:228165"} xref: UMLS:C0007795 {source="DOID:0060215", source="MONDO:directSiblingOf"} xref: UMLS:C0205710 {source="DOID:0060215", source="MONDO:directSiblingOf"} is_a: MONDO:0002562 {source="DOID:0060215"} ! demyelinating disease @@ -322357,8 +322198,8 @@ name: autosomal dominant Charcot-Marie-Tooth disease type 2M def: "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." [Orphanet:228179] subset: ordo_disease {source="Orphanet:228179"} synonym: "CMT2M" EXACT ABBREVIATION [Orphanet:228179] -xref: ICD10CM:G60.0 {source="Orphanet:228179", source="ORDO:228179/attributed", source="ORDO:228179/ntbt"} -xref: OMIM:606482 {source="MONDO:subClassOf", source="Orphanet:228179", source="ORDO:228179/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:228179/attributed", source="Orphanet:228179/ntbt", source="Orphanet:228179"} +xref: OMIM:606482 {source="MONDO:subClassOf", source="Orphanet:228179/ntbt", source="Orphanet:228179"} xref: Orphanet:228179 {source="MONDO:equivalentTo"} xref: SCTID:719514002 {source="MONDO:equivalentTo"} xref: UMLS:C1847902 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228179"} @@ -322375,7 +322216,7 @@ def: "Heart-hand syndrome refers to a group of congenital disorders characterize subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:228184"} synonym: "atriodigital dysplasia" EXACT [Orphanet:228184] -xref: ICD10CM:Q87.2 {source="ORDO:228184/attributed", source="ORDO:228184/ntbt", source="Orphanet:228184"} +xref: ICD10CM:Q87.2 {source="Orphanet:228184", source="Orphanet:228184/attributed", source="Orphanet:228184/ntbt"} xref: Orphanet:228184 {source="MONDO:equivalentTo"} xref: UMLS:C0265264 {source="Orphanet:228184", source="MONDO:superClassOf"} xref: UMLS:CN201390 {source="MONDO:equivalentTo"} @@ -322388,7 +322229,7 @@ name: dysmorphism-short stature-deafness-disorder of sex development syndrome def: "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." [Orphanet:2282] subset: ordo_malformation_syndrome {source="Orphanet:2282"} synonym: "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" EXACT [Orphanet:2282] -xref: ICD10CM:Q87.8 {source="ORDO:2282/attributed", source="ORDO:2282/ntbt", source="Orphanet:2282"} +xref: ICD10CM:Q87.8 {source="Orphanet:2282/attributed", source="Orphanet:2282/ntbt", source="Orphanet:2282"} xref: Orphanet:2282 {source="MONDO:equivalentTo"} xref: UMLS:CN201392 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2282", source="indirect"} ! syndromic intellectual disability @@ -322466,7 +322307,7 @@ xref: GARD:0012716 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:228240 {source="MONDO:equivalentTo"} xref: SCTID:238832003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406555 {source="MONDO:equivalentTo", source="ORDO:228240/e", source="Orphanet:228240"} +xref: UMLS:C0406555 {source="MONDO:equivalentTo", source="Orphanet:228240", source="Orphanet:228240/e"} is_a: MONDO:0016434 {source="Orphanet:228240"} ! acquired dermis elastic tissue disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12716/elastoderma xsd:anyURI {source="GARD:0012716"} @@ -322496,7 +322337,7 @@ synonym: "localized acquired cutaneous pseudoxanthoma elasticum" EXACT [PMID:528 xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:228247 {source="MONDO:equivalentTo"} xref: SCTID:403401007 {source="MONDO:equivalentTo"} -xref: UMLS:C1274759 {source="MONDO:equivalentTo", source="Orphanet:228247", source="ORDO:228247/e"} +xref: UMLS:C1274759 {source="Orphanet:228247/e", source="MONDO:equivalentTo", source="Orphanet:228247"} intersection_of: MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired) intersection_of: has_modifier MONDO:0021141 ! acquired @@ -322534,12 +322375,12 @@ name: primary anetoderma def: "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." [Orphanet:228272] subset: ordo_disease {source="Orphanet:228272"} synonym: "primary macular atrophy" EXACT [Orphanet:228272] -xref: ICD10CM:L90.1 {source="ORDO:228272/btnt", source="Orphanet:228272"} -xref: ICD10CM:L90.2 {source="ORDO:228272/btnt", source="Orphanet:228272"} +xref: ICD10CM:L90.1 {source="Orphanet:228272", source="Orphanet:228272/btnt"} +xref: ICD10CM:L90.2 {source="Orphanet:228272", source="Orphanet:228272/btnt"} xref: MESH:D057088 {source="MONDO:equivalentTo"} xref: Orphanet:228272 {source="MONDO:equivalentTo"} xref: SCTID:238829001 {source="MONDO:equivalentTo"} -xref: UMLS:C0406550 {source="MONDO:equivalentTo", source="Orphanet:228272", source="ORDO:228272/e"} +xref: UMLS:C0406550 {source="MONDO:equivalentTo", source="Orphanet:228272", source="Orphanet:228272/e"} is_a: MONDO:0016434 {source="Orphanet:228272"} ! acquired dermis elastic tissue disorder [Term] @@ -322549,7 +322390,7 @@ def: "Familial anetoderma is an extremely rare genetic skin disease characterize subset: ordo_disease {source="Orphanet:228277"} synonym: "hereditary anetoderma" EXACT [Orphanet:228277] synonym: "hereditary macular atrophy" EXACT [Orphanet:228277] -xref: ICD10CM:L90.8 {source="ORDO:228277/attributed", source="ORDO:228277/ntbt", source="Orphanet:228277"} +xref: ICD10CM:L90.8 {source="Orphanet:228277/attributed", source="Orphanet:228277/ntbt", source="Orphanet:228277"} xref: Orphanet:228277 {source="MONDO:equivalentTo"} xref: SCTID:733467001 {source="MONDO:equivalentTo"} xref: UMLS:C4518793 {source="MONDO:equivalentTo"} @@ -322565,7 +322406,7 @@ synonym: "acquired cutis laxa" EXACT [MONDO:patterns/acquired] synonym: "cutis laxa acquisita" EXACT [Orphanet:228285] xref: Orphanet:228285 {source="MONDO:equivalentTo"} xref: SCTID:19726003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406549 {source="MONDO:equivalentTo", source="Orphanet:228285", source="ORDO:228285/e"} +xref: UMLS:C0406549 {source="MONDO:equivalentTo", source="Orphanet:228285", source="Orphanet:228285/e"} is_a: MONDO:0016175 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! cutis laxa intersection_of: MONDO:0016175 ! cutis laxa intersection_of: has_modifier MONDO:0021141 ! acquired @@ -322607,7 +322448,7 @@ subset: ordo_group_of_disorders {source="Orphanet:228312"} synonym: "cAHA" EXACT [Orphanet:228312] synonym: "cAIHA" EXACT [Orphanet:228312] synonym: "cold AIHA" EXACT [Orphanet:228312] -xref: ICD10CM:D59.1 {source="ORDO:228312/ntbt", source="Orphanet:228312"} +xref: ICD10CM:D59.1 {source="Orphanet:228312/ntbt", source="Orphanet:228312"} xref: Orphanet:228312 {source="MONDO:equivalentTo"} xref: UMLS:C0175816 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228312"} xref: UMLS:CN201401 {source="MONDO:equivalentTo"} @@ -322618,7 +322459,7 @@ id: MONDO:0016451 name: idiopathic hypersomnia with long sleep time def: "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." [Orphanet:228315] subset: ordo_clinical_subtype {source="Orphanet:228315"} -xref: ICD10CM:F51.1 {source="Orphanet:228315", source="ORDO:228315/ntbt"} +xref: ICD10CM:F51.1 {source="Orphanet:228315", source="Orphanet:228315/ntbt"} xref: ICD10CM:G47.11 {source="MONDO:equivalentTo"} xref: ICD9:327.11 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:228315 {source="MONDO:equivalentTo"} @@ -322631,12 +322472,12 @@ id: MONDO:0016452 name: idiopathic hypersomnia without long sleep time def: "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." [Orphanet:228318] subset: ordo_clinical_subtype {source="Orphanet:228318"} -xref: ICD10CM:F51.1 {source="Orphanet:228318", source="ORDO:228318/ntbt"} +xref: ICD10CM:F51.1 {source="Orphanet:228318/ntbt", source="Orphanet:228318"} xref: ICD10CM:G47.12 {source="MONDO:equivalentTo"} xref: ICD9:327.12 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:228318 {source="MONDO:equivalentTo"} xref: SCTID:442292004 {source="MONDO:equivalentTo"} -xref: UMLS:C1561855 {source="ORDO:228318/e", source="Orphanet:228318", source="MONDO:equivalentTo"} +xref: UMLS:C1561855 {source="Orphanet:228318", source="MONDO:equivalentTo", source="Orphanet:228318/e"} is_a: MONDO:0018044 {source="Orphanet:228318"} ! idiopathic hypersomnia [Term] @@ -322646,12 +322487,12 @@ def: "Foodborne botulism is the most common form of botulism, a rare acquired ne subset: ordo_clinical_subtype {source="Orphanet:228371"} synonym: "intoxication botulism" EXACT [Orphanet:228371] xref: DOID:0050352 {source="MONDO:equivalentTo"} -xref: ICD10CM:A05.1 {source="ORDO:228371/ntbt", source="Orphanet:228371"} +xref: ICD10CM:A05.1 {source="Orphanet:228371", source="Orphanet:228371/ntbt"} xref: ICD9:005.1 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C128341 {source="MONDO:equivalentTo"} xref: Orphanet:228371 {source="MONDO:equivalentTo"} xref: SCTID:398523009 {source="MONDO:equivalentTo"} -xref: UMLS:C1739094 {source="NCIT:C128341", source="MONDO:equivalentTo", source="Orphanet:228371", source="ORDO:228371/e"} +xref: UMLS:C1739094 {source="NCIT:C128341", source="MONDO:equivalentTo", source="Orphanet:228371", source="Orphanet:228371/e"} is_a: MONDO:0005498 {source="DOID:0050352", source="NCIT:C128341", source="Orphanet:228371"} ! botulism relationship: disease_has_feature HP:0000622 ! Blurred vision relationship: disease_has_feature HP:0000651 ! Diplopia @@ -322673,7 +322514,7 @@ synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B5" EXACT [Orpha synonym: "Charcot-Marie-Tooth disease type 2B5" RELATED [Orphanet:228374] synonym: "SEOAN due to NEFL deficiency" EXACT [Orphanet:228374] synonym: "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" EXACT [Orphanet:228374] -xref: ICD10CM:G60.0 {source="ORDO:228374/attributed", source="ORDO:228374/ntbt", source="Orphanet:228374"} +xref: ICD10CM:G60.0 {source="Orphanet:228374/attributed", source="Orphanet:228374/ntbt", source="Orphanet:228374"} xref: Orphanet:228374 {source="MONDO:equivalentTo"} is_a: MONDO:0019601 {source="Orphanet:228374"} ! autosomal recessive axonal hereditary motor and sensory neuropathy @@ -322705,8 +322546,8 @@ synonym: "chromosome 5q14.3 deletion syndrome" RELATED [GARD:0012166] synonym: "Del(5)(q14.3)" EXACT [Orphanet:228384] synonym: "monosomy 5q14.3" EXACT [Orphanet:228384] xref: GARD:0012166 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:228384/attributed", source="ORDO:228384/ntbt", source="Orphanet:228384"} -xref: OMIM:613443 {source="MONDO:subClassOf", source="ORDO:228384/ntbt", source="MONDO:relatedTo", source="Orphanet:228384"} +xref: ICD10CM:Q93.5 {source="Orphanet:228384", source="Orphanet:228384/attributed", source="Orphanet:228384/ntbt"} +xref: OMIM:613443 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:228384", source="Orphanet:228384/ntbt"} xref: Orphanet:228384 {source="MONDO:equivalentTo"} xref: SCTID:719661007 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease @@ -322723,7 +322564,7 @@ id: MONDO:0016457 name: ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome def: "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." [Orphanet:228396] subset: ordo_malformation_syndrome {source="Orphanet:228396"} -xref: ICD10CM:Q87.0 {source="ORDO:228396/attributed", source="ORDO:228396/ntbt", source="Orphanet:228396"} +xref: ICD10CM:Q87.0 {source="Orphanet:228396/attributed", source="Orphanet:228396/ntbt", source="Orphanet:228396"} xref: Orphanet:228396 {source="MONDO:equivalentTo"} xref: UMLS:CN201421 {source="MONDO:equivalentTo"} is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -322761,8 +322602,8 @@ synonym: "Del(2)(q23.1)" EXACT [Orphanet:228402] synonym: "monosomy 2q23.1" EXACT [Orphanet:228402] synonym: "pseudo-Angelman syndrome" EXACT [Orphanet:228402] xref: GARD:0010998 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:228402", source="ORDO:228402/attributed", source="ORDO:228402/ntbt"} -xref: OMIM:156200 {source="MONDO:subClassOf", source="Orphanet:228402", source="MONDO:relatedTo", source="ORDO:228402/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:228402", source="Orphanet:228402/attributed", source="Orphanet:228402/ntbt"} +xref: OMIM:156200 {source="MONDO:subClassOf", source="Orphanet:228402", source="MONDO:relatedTo", source="Orphanet:228402/ntbt"} xref: Orphanet:228402 {source="MONDO:equivalentTo"} xref: SCTID:719657001 {source="MONDO:equivalentTo"} is_a: MONDO:0016901 {source="Orphanet:228402"} ! partial deletion of the long arm of chromosome 2 @@ -322782,7 +322623,7 @@ name: polyvalvular heart disease syndrome def: "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." [Orphanet:228410] subset: ordo_malformation_syndrome {source="Orphanet:228410"} synonym: "PHD syndrome" EXACT [Orphanet:228410] -xref: ICD10CM:Q87.8 {source="Orphanet:228410", source="ORDO:228410/attributed", source="ORDO:228410/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:228410/attributed", source="Orphanet:228410/ntbt", source="Orphanet:228410"} xref: Orphanet:228410 {source="MONDO:equivalentTo"} xref: SCTID:723448007 {source="MONDO:equivalentTo"} xref: UMLS:C4509918 {source="MONDO:equivalentTo"} @@ -322815,16 +322656,16 @@ def: "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobul subset: ordo_disease {source="Orphanet:229717"} synonym: "isolated hypogammaglobulinemia" EXACT [Orphanet:229717] synonym: "nonsyndromic agammaglobulinemia" EXACT [MONDO:patterns/isolated] -xref: OMIM:300310 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:300755 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:601495 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:612692 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:613500 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:613501 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:613502 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:613506 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:615214 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} -xref: OMIM:616941 {source="MONDO:superClassOf", source="ORDO:229717/btnt", source="Orphanet:229717"} +xref: OMIM:300310 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:300755 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:601495 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:612692 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:613500 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:613501 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:613502 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:613506 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:615214 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} +xref: OMIM:616941 {source="MONDO:superClassOf", source="Orphanet:229717", source="Orphanet:229717/btnt"} xref: Orphanet:229717 {source="MONDO:equivalentTo"} xref: SCTID:764858009 {source="MONDO:equivalentTo"} xref: UMLS:C0001768 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:229717"} @@ -322860,9 +322701,9 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:2298"} synonym: "insulin-resistance type B" RELATED [GARD:0003009] xref: GARD:0003009 {source="MONDO:equivalentTo"} -xref: ICD10CM:E13 {source="Orphanet:2298", source="ORDO:2298/attributed", source="ORDO:2298/ntbt"} +xref: ICD10CM:E13 {source="Orphanet:2298", source="Orphanet:2298/attributed", source="Orphanet:2298/ntbt"} xref: Orphanet:2298 {source="GARD:0003009", source="MONDO:equivalentTo"} -xref: UMLS:C0342337 {source="Orphanet:2298", source="ORDO:2298/e", source="GARD:0003009", source="MONDO:equivalentTo"} +xref: UMLS:C0342337 {source="Orphanet:2298", source="GARD:0003009", source="MONDO:equivalentTo", source="Orphanet:2298/e"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b xsd:anyURI {source="GARD:0003009"} @@ -322890,7 +322731,7 @@ xref: CSP:2596-4484 {source="DOID:10320"} xref: DOID:10320 {source="MONDO:equivalentTo", source="EFO:0007153"} xref: EFO:0007153 {source="MONDO:equivalentTo"} xref: GARD:0005852 {source="MONDO:equivalentTo"} -xref: ICD10CM:J61 {source="Orphanet:2302", source="ORDO:2302/ntbt", source="DOID:10320"} +xref: ICD10CM:J61 {source="Orphanet:2302/ntbt", source="Orphanet:2302", source="DOID:10320"} xref: ICD9:501 {source="MONDO:equivalentTo", source="i2s", source="DOID:10320"} xref: MESH:D001195 {source="MONDO:equivalentTo", source="EFO:0007153", source="DOID:10320"} xref: NCIT:C84573 {source="MONDO:equivalentTo", source="NCIT:C84573", source="DOID:10320"} @@ -322922,7 +322763,7 @@ synonym: "Isotretinoin teratogen syndrome" RELATED [GARD:0000517] synonym: "retinoic acid embryopathy" EXACT [Orphanet:2305] synonym: "Retinoids embryopathy" EXACT [Orphanet:2305] xref: GARD:0000517 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="ORDO:2305/ntbt", source="Orphanet:2305"} +xref: ICD10CM:Q86.8 {source="Orphanet:2305", source="Orphanet:2305/ntbt"} xref: MESH:C535670 {source="MONDO:equivalentTo"} xref: NCIT:C98929 {source="MONDO:equivalentTo"} xref: Orphanet:2305 {source="MONDO:equivalentTo"} @@ -322941,7 +322782,7 @@ name: toxin-mediated infectious botulism def: "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." [Orphanet:230800] subset: ordo_clinical_subtype {source="Orphanet:230800"} synonym: "toxin-mediated infective botulism" EXACT [Orphanet:230800] -xref: ICD10CM:A05.1 {source="ORDO:230800/ntbt", source="Orphanet:230800"} +xref: ICD10CM:A05.1 {source="Orphanet:230800", source="Orphanet:230800/ntbt"} xref: Orphanet:230800 {source="MONDO:equivalentTo"} is_a: MONDO:0005498 {source="Orphanet:230800"} ! botulism @@ -322951,7 +322792,7 @@ name: Ehlers-Danlos syndrome, vascular-like type def: "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." [Orphanet:230845] subset: ordo_disease {source="Orphanet:230845"} synonym: "EDS, vascular-like type" EXACT [Orphanet:230845] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:230845/attributed", source="ORDO:230845/ntbt", source="Orphanet:230845"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230845/attributed", source="Orphanet:230845/ntbt", source="Orphanet:230845"} xref: Orphanet:230845 {source="MONDO:equivalentTo"} xref: SCTID:720862007 {source="MONDO:equivalentTo"} xref: UMLS:CN201458 {source="MONDO:equivalentTo"} @@ -322965,7 +322806,7 @@ name: Ehlers-Danlos/osteogenesis imperfecta syndrome def: "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." [Orphanet:230857] subset: ordo_disease {source="Orphanet:230857"} synonym: "EDS/OI syndrome" EXACT [Orphanet:230857] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230857", source="ORDO:230857/attributed", source="ORDO:230857/ntbt"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:230857/attributed", source="Orphanet:230857/ntbt", source="Orphanet:230857"} xref: MESH:C565178 {source="MONDO:equivalentTo"} xref: OMIMPS:619115 {source="MONDO:equivalentTo"} xref: Orphanet:230857 {source="MONDO:equivalentTo"} @@ -322991,19 +322832,19 @@ synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT [DOID:005044 synonym: "PC" EXACT ABBREVIATION [Orphanet:2309] xref: DOID:0050449 {source="MONDO:equivalentTo"} xref: GARD:0010753 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q84.5 {source="ORDO:2309/attributed", source="ORDO:2309/ntbt", source="Orphanet:2309"} -xref: MESH:D053549 {source="MONDO:equivalentTo", source="DOID:0050449", source="ORDO:2309/e", source="Orphanet:2309"} +xref: ICD10CM:Q84.5 {source="Orphanet:2309/attributed", source="Orphanet:2309/ntbt", source="Orphanet:2309"} +xref: MESH:D053549 {source="Orphanet:2309/e", source="MONDO:equivalentTo", source="DOID:0050449", source="Orphanet:2309"} xref: NCIT:C84986 {source="MONDO:equivalentTo", source="DOID:0050449"} -xref: OMIM:167200 {source="ORDO:2309/btnt", source="MONDO:superClassOf", source="DOID:0050449", source="Orphanet:2309"} -xref: OMIM:167210 {source="ORDO:2309/btnt", source="MONDO:superClassOf", source="DOID:0050449", source="Orphanet:2309"} -xref: OMIM:260130 {source="ORDO:2309/btnt", source="MONDO:superClassOf", source="Orphanet:2309"} -xref: OMIM:615726 {source="ORDO:2309/btnt", source="MONDO:superClassOf", source="Orphanet:2309"} -xref: OMIM:615728 {source="ORDO:2309/btnt", source="MONDO:superClassOf", source="Orphanet:2309"} +xref: OMIM:167200 {source="MONDO:superClassOf", source="DOID:0050449", source="Orphanet:2309/btnt", source="Orphanet:2309"} +xref: OMIM:167210 {source="MONDO:superClassOf", source="DOID:0050449", source="Orphanet:2309/btnt", source="Orphanet:2309"} +xref: OMIM:260130 {source="MONDO:superClassOf", source="Orphanet:2309/btnt", source="Orphanet:2309"} +xref: OMIM:615726 {source="MONDO:superClassOf", source="Orphanet:2309/btnt", source="Orphanet:2309"} +xref: OMIM:615728 {source="MONDO:superClassOf", source="Orphanet:2309/btnt", source="Orphanet:2309"} xref: OMIMPS:167200 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2309 {source="MONDO:equivalentTo"} xref: SCTID:205600001 {source="DOID:0050449"} xref: SCTID:39427000 {source="MONDO:superClassOf", source="DOID:0050449"} -xref: UMLS:C0265334 {source="NCIT:C84986", source="MONDO:equivalentTo", source="DOID:0050449", source="ORDO:2309/e", source="Orphanet:2309"} +xref: UMLS:C0265334 {source="NCIT:C84986", source="Orphanet:2309/e", source="MONDO:equivalentTo", source="DOID:0050449", source="Orphanet:2309"} xref: UMLS:C1706595 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050449"} xref: UMLS:C1721007 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050449"} is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma @@ -323032,15 +322873,15 @@ synonym: "parasitic infection caused by Dracunculus medinensis" RELATED [GARD:00 xref: DOID:14418 {source="MONDO:equivalentTo", source="EFO:0007241"} xref: EFO:0007241 {source="MONDO:equivalentTo"} xref: GARD:0006286 {source="MONDO:equivalentTo"} -xref: ICD10CM:B72 {source="DOID:14418", source="MONDO:equivalentTo", source="ORDO:231/e", source="Orphanet:231"} +xref: ICD10CM:B72 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"} xref: ICD9:125.7 {source="DOID:14418", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10013618 {source="ORDO:231/e", source="Orphanet:231"} -xref: MESH:D004320 {source="DOID:14418", source="MONDO:equivalentTo", source="ORDO:231/e", source="EFO:0007241", source="Orphanet:231"} +xref: MedDRA:10013618 {source="Orphanet:231/e", source="Orphanet:231"} +xref: MESH:D004320 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="EFO:0007241", source="Orphanet:231"} xref: NCIT:C84677 {source="DOID:14418", source="MONDO:equivalentTo"} xref: Orphanet:231 {source="MONDO:equivalentTo"} xref: SCTID:396334002 {source="DOID:14418", source="MONDO:equivalentTo"} xref: SCTID:48874008 {source="DOID:14418"} -xref: UMLS:C0013100 {source="NCIT:C84677", source="DOID:14418", source="MONDO:equivalentTo", source="ORDO:231/e", source="Orphanet:231"} +xref: UMLS:C0013100 {source="NCIT:C84677", source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"} is_a: MONDO:0005135 {source="DOID:14418/inferred", source="EFO:0007241", source="MESH:D004320/inferred", source="MONDO:Redundant", source="NCIT:C84677", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0016075 {source="Orphanet:231"} ! filariasis intersection_of: MONDO:0005550 ! infectious disease @@ -323060,10 +322901,10 @@ synonym: "hereditary rhabdoid tumor" EXACT [MONDO:patterns/hereditary] synonym: "rhabdoid predisposition syndrome" EXACT [NCIT:C93268] synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, Orphanet:231108] synonym: "RTPS" EXACT ABBREVIATION [Orphanet:231108] -xref: ICD10CM:C49.9 {source="ORDO:231108/attributed", source="ORDO:231108/ntbt", source="Orphanet:231108"} +xref: ICD10CM:C49.9 {source="Orphanet:231108", source="Orphanet:231108/attributed", source="Orphanet:231108/ntbt"} xref: NCIT:C93268 {source="MONDO:equivalentTo"} -xref: OMIM:609322 {source="ORDO:231108/btnt", source="MONDO:superClassOf", source="Orphanet:231108"} -xref: OMIM:613325 {source="ORDO:231108/btnt", source="MONDO:superClassOf", source="Orphanet:231108"} +xref: OMIM:609322 {source="MONDO:superClassOf", source="Orphanet:231108", source="Orphanet:231108/btnt"} +xref: OMIM:613325 {source="MONDO:superClassOf", source="Orphanet:231108", source="Orphanet:231108/btnt"} xref: OMIMPS:609322 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:231108 {source="MONDO:equivalentTo"} xref: UMLS:C2985524 {source="MONDO:equivalentTo"} @@ -323087,13 +322928,13 @@ synonym: "drug induced lupus" EXACT [NCIT:C114354] synonym: "drug induced lupus erythematosus" EXACT [NCIT:C114354] synonym: "drug-induced lupus" EXACT [NCIT:C114354] xref: DOID:0040093 {source="MONDO:equivalentTo"} -xref: ICD10CM:M32.0 {source="Orphanet:231111", source="ORDO:231111/e", source="DOID:0040093"} -xref: MedDRA:10013706 {source="Orphanet:231111", source="ORDO:231111/e"} +xref: ICD10CM:M32.0 {source="Orphanet:231111", source="DOID:0040093", source="Orphanet:231111/e"} +xref: MedDRA:10013706 {source="Orphanet:231111", source="Orphanet:231111/e"} xref: NCIT:C114354 {source="MONDO:equivalentTo"} xref: Orphanet:231111 {source="MONDO:equivalentTo"} xref: SCTID:80258006 {source="MONDO:equivalentTo"} xref: SCTID:821398018 {source="DOID:0040093"} -xref: UMLS:C0263591 {source="Orphanet:231111", source="ORDO:231111/e", source="MONDO:equivalentTo", source="NCIT:C114354", source="DOID:0040093"} +xref: UMLS:C0263591 {source="Orphanet:231111", source="MONDO:equivalentTo", source="NCIT:C114354", source="DOID:0040093", source="Orphanet:231111/e"} is_a: MONDO:0004670 {source="DOID:0040093", source="MONDO:Redundant", source="NCIT:C114354", source="linkedlifedata"} ! lupus erythematosus intersection_of: MONDO:0004670 ! lupus erythematosus intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug @@ -323103,7 +322944,7 @@ id: MONDO:0016475 name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 subset: ordo_etiological_subtype {source="Orphanet:231117"} synonym: "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231117] -xref: ICD10CM:Q87.3 {source="ORDO:231117/attributed", source="ORDO:231117/ntbt", source="Orphanet:231117"} +xref: ICD10CM:Q87.3 {source="Orphanet:231117", source="Orphanet:231117/attributed", source="Orphanet:231117/ntbt"} xref: Orphanet:231117 {source="MONDO:equivalentTo"} xref: UMLS:CN201470 {source="MONDO:equivalentTo"} is_a: MONDO:0007534 {source="Orphanet:231117"} ! Beckwith-Wiedemann syndrome @@ -323112,7 +322953,7 @@ is_a: MONDO:0007534 {source="Orphanet:231117"} ! Beckwith-Wiedemann syndrome id: MONDO:0016476 name: Beckwith-Wiedemann syndrome due to CDKN1C mutation subset: ordo_etiological_subtype {source="Orphanet:231120"} -xref: ICD10CM:Q87.3 {source="Orphanet:231120", source="ORDO:231120/attributed", source="ORDO:231120/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:231120", source="Orphanet:231120/attributed", source="Orphanet:231120/ntbt"} xref: OMIM:130650 {source="MONDO:subClassOf", source="Orphanet:231120"} xref: Orphanet:231120 {source="MONDO:equivalentTo"} xref: UMLS:CN201471 {source="MONDO:equivalentTo"} @@ -323123,7 +322964,7 @@ property_value: confidence "1.0" xsd:double id: MONDO:0016477 name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion subset: ordo_etiological_subtype {source="Orphanet:231127"} -xref: ICD10CM:Q87.3 {source="ORDO:231127/attributed", source="ORDO:231127/ntbt", source="Orphanet:231127"} +xref: ICD10CM:Q87.3 {source="Orphanet:231127", source="Orphanet:231127/attributed", source="Orphanet:231127/ntbt"} xref: Orphanet:231127 {source="MONDO:equivalentTo"} xref: UMLS:CN201472 {source="MONDO:equivalentTo"} is_a: MONDO:0007534 {source="Orphanet:231127"} ! Beckwith-Wiedemann syndrome @@ -323136,7 +322977,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3664 id: MONDO:0016478 name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion subset: ordo_etiological_subtype {source="Orphanet:231130"} -xref: ICD10CM:Q87.3 {source="Orphanet:231130", source="ORDO:231130/attributed", source="ORDO:231130/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:231130", source="Orphanet:231130/attributed", source="Orphanet:231130/ntbt"} xref: Orphanet:231130 {source="MONDO:equivalentTo"} xref: UMLS:CN201473 {source="MONDO:equivalentTo"} is_a: MONDO:0007534 {source="Orphanet:231130"} ! Beckwith-Wiedemann syndrome @@ -323149,7 +322990,7 @@ synonym: "Silver-Russell syndrome due to 7p11.2-p13 microduplication" EXACT [Orp synonym: "Silver-Russell syndrome due to dup(7)(p11.2p13)" EXACT [Orphanet:231137] synonym: "Silver-Russell syndrome due to trisomy 7p11.2-p13" EXACT [Orphanet:231137] synonym: "Silver-Russell syndrome due to trisomy 7p11.2p13" EXACT [Orphanet:231137] -xref: ICD10CM:Q87.1 {source="ORDO:231137/attributed", source="ORDO:231137/ntbt", source="Orphanet:231137"} +xref: ICD10CM:Q87.1 {source="Orphanet:231137", source="Orphanet:231137/attributed", source="Orphanet:231137/ntbt"} xref: Orphanet:231137 {source="MONDO:equivalentTo"} xref: UMLS:CN201474 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -323163,7 +323004,7 @@ id: MONDO:0016480 name: silver-Russell syndrome due to an imprinting defect of 11p15 subset: ordo_etiological_subtype {source="Orphanet:231140"} synonym: "Silver-Russell syndrome due to an imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231140] -xref: ICD10CM:Q87.1 {source="ORDO:231140/attributed", source="ORDO:231140/ntbt", source="Orphanet:231140"} +xref: ICD10CM:Q87.1 {source="Orphanet:231140/attributed", source="Orphanet:231140/ntbt", source="Orphanet:231140"} xref: Orphanet:231140 {source="MONDO:equivalentTo"} xref: UMLS:CN201475 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="Orphanet:231140"} ! Silver-Russell syndrome @@ -323172,7 +323013,7 @@ is_a: MONDO:0008394 {source="Orphanet:231140"} ! Silver-Russell syndrome id: MONDO:0016481 name: silver-Russell syndrome due to 11p15 microduplication subset: ordo_etiological_subtype {source="Orphanet:231144"} -xref: ICD10CM:Q87.1 {source="Orphanet:231144", source="ORDO:231144/attributed", source="ORDO:231144/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:231144", source="Orphanet:231144/attributed", source="Orphanet:231144/ntbt"} xref: Orphanet:231144 {source="MONDO:equivalentTo"} xref: UMLS:CN201476 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -323187,7 +323028,7 @@ name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 1 subset: ordo_etiological_subtype {source="Orphanet:231147"} synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:231147] synonym: "UPD(11)mat" EXACT [Orphanet:231147] -xref: ICD10CM:Q87.1 {source="ORDO:231147/attributed", source="ORDO:231147/ntbt", source="Orphanet:231147"} +xref: ICD10CM:Q87.1 {source="Orphanet:231147", source="Orphanet:231147/attributed", source="Orphanet:231147/ntbt"} xref: Orphanet:231147 {source="MONDO:equivalentTo"} xref: UMLS:CN201477 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="Orphanet:231147"} ! Silver-Russell syndrome @@ -323208,18 +323049,18 @@ synonym: "saccular cerebral aneurysm" EXACT [DOID:0060228] xref: DOID:0060228 {source="MONDO:equivalentTo"} xref: HP:0007029 {source="MONDO:otherHierarchy", source="DOID:0060228"} xref: ICD10CM:I60.7 {source="DOID:0060228"} -xref: ICD10CM:I67.1 {source="Orphanet:231160", source="ORDO:231160/attributed", source="ORDO:231160/ntbt"} -xref: OMIM:105800 {source="MONDO:superClassOf", source="ORDO:231160/e"} -xref: OMIM:300870 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:608542 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:609122 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:610213 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:611892 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:612161 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:612162 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:612586 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:612587 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} -xref: OMIM:614252 {source="MONDO:superClassOf", source="ORDO:231160/btnt"} +xref: ICD10CM:I67.1 {source="Orphanet:231160/attributed", source="Orphanet:231160/ntbt", source="Orphanet:231160"} +xref: OMIM:105800 {source="Orphanet:231160/e", source="MONDO:superClassOf"} +xref: OMIM:300870 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:608542 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:609122 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:610213 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:611892 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:612161 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:612162 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:612586 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:612587 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} +xref: OMIM:614252 {source="MONDO:superClassOf", source="Orphanet:231160/btnt"} xref: OMIMPS:105800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="MONDO:equivalentTo", source="DOID:0060228"} xref: SCTID:703226008 {source="MONDO:equivalentTo"} @@ -323238,15 +323079,15 @@ subset: ordo_clinical_subtype {source="Orphanet:231178"} synonym: "USH2" EXACT ABBREVIATION [DOID:0110827, Orphanet:231178] synonym: "Usher syndrome type 2" EXACT CLINGEN_PREFERRED [] xref: DOID:0110827 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827", source="ORDO:231178/attributed", source="ORDO:231178/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:231178/attributed", source="Orphanet:231178/ntbt", source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827"} xref: NCIT:C126328 {source="MONDO:equivalentTo"} -xref: OMIM:276901 {source="Orphanet:231178", source="MONDO:superClassOf", source="ORDO:231178/btnt"} -xref: OMIM:605472 {source="Orphanet:231178", source="MONDO:superClassOf", source="ORDO:231178/btnt"} -xref: OMIM:611383 {source="Orphanet:231178", source="MONDO:superClassOf", source="ORDO:231178/btnt"} +xref: OMIM:276901 {source="Orphanet:231178/btnt", source="Orphanet:231178", source="MONDO:superClassOf"} +xref: OMIM:605472 {source="Orphanet:231178/btnt", source="Orphanet:231178", source="MONDO:superClassOf"} +xref: OMIM:611383 {source="Orphanet:231178/btnt", source="Orphanet:231178", source="MONDO:superClassOf"} xref: Orphanet:231178 {source="MONDO:equivalentTo", source="DOID:0110827"} xref: SCTID:232058008 {source="MONDO:equivalentTo"} -xref: UMLS:C0339534 {source="ORDO:231178/e", source="Orphanet:231178", source="MONDO:equivalentTo", source="DOID:0110827", source="NCIT:C126328"} -xref: UMLS:C1568249 {source="ORDO:231178/e", source="Orphanet:231178", source="MONDO:notFoundInDiseaseSubset", source="DOID:0110827"} +xref: UMLS:C0339534 {source="Orphanet:231178", source="MONDO:equivalentTo", source="DOID:0110827", source="Orphanet:231178/e", source="NCIT:C126328"} +xref: UMLS:C1568249 {source="Orphanet:231178", source="MONDO:notFoundInDiseaseSubset", source="DOID:0110827", source="Orphanet:231178/e"} is_a: MONDO:0019501 {source="DOID:0110827", source="NCIT:C126328", source="Orphanet:231178"} ! Usher syndrome relationship: has_modifier HP:0000007 {source="Orphanet:231178"} ! Autosomal recessive inheritance @@ -323259,13 +323100,13 @@ synonym: "USH3" EXACT ABBREVIATION [DOID:0110828, Orphanet:231183] synonym: "Usher syndrome type 3" EXACT CLINGEN_PREFERRED [] xref: DOID:0110828 {source="MONDO:equivalentTo"} xref: GARD:0005442 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110828", source="ORDO:231183/attributed", source="ORDO:231183/ntbt", source="Orphanet:231183"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:231183/attributed", source="Orphanet:231183/ntbt", source="DOID:0110828", source="Orphanet:231183"} xref: NCIT:C126329 {source="MONDO:equivalentTo"} -xref: OMIM:276902 {source="MONDO:superClassOf", source="ORDO:231183/btnt", source="Orphanet:231183"} -xref: OMIM:500004 {source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="ORDO:231183/btnt", source="Orphanet:231183"} -xref: OMIM:614504 {source="MONDO:superClassOf", source="ORDO:231183/btnt", source="Orphanet:231183"} +xref: OMIM:276902 {source="Orphanet:231183/btnt", source="MONDO:superClassOf", source="Orphanet:231183"} +xref: OMIM:500004 {source="Orphanet:231183/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:231183"} +xref: OMIM:614504 {source="Orphanet:231183/btnt", source="MONDO:superClassOf", source="Orphanet:231183"} xref: Orphanet:231183 {source="MONDO:equivalentTo", source="DOID:0110828"} -xref: UMLS:C1568248 {source="MONDO:equivalentTo", source="DOID:0110828", source="NCIT:C126329", source="ORDO:231183/e", source="Orphanet:231183"} +xref: UMLS:C1568248 {source="Orphanet:231183/e", source="MONDO:equivalentTo", source="DOID:0110828", source="NCIT:C126329", source="Orphanet:231183"} is_a: MONDO:0019501 {source="DOID:0110828", source="NCIT:C126329", source="Orphanet:231183"} ! Usher syndrome relationship: has_modifier HP:0000007 {source="Orphanet:231183"} ! Autosomal recessive inheritance @@ -323278,10 +323119,10 @@ synonym: "Beta thalassemia Major" EXACT [NCIT:C129699] synonym: "Cooley anemia" EXACT [Orphanet:231214] synonym: "Cooley's Anemia" EXACT [NCIT:C129699] synonym: "Mediterranean anemia" EXACT [Orphanet:231214] -xref: ICD10CM:D56.1 {source="ORDO:231214/attributed", source="ORDO:231214/ntbt", source="Orphanet:231214"} +xref: ICD10CM:D56.1 {source="Orphanet:231214", source="Orphanet:231214/attributed", source="Orphanet:231214/ntbt"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C129699 {source="MONDO:equivalentTo"} -xref: OMIM:613985 {source="MONDO:subClassOf", source="ORDO:231214/ntbt", source="Orphanet:231214"} +xref: OMIM:613985 {source="MONDO:subClassOf", source="Orphanet:231214", source="Orphanet:231214/ntbt"} xref: Orphanet:231214 {source="MONDO:equivalentTo"} xref: SCTID:26682008 {source="MONDO:equivalentTo"} xref: UMLS:C0002875 {source="Orphanet:231214", source="MONDO:notFoundInDiseaseSubset"} @@ -323294,13 +323135,13 @@ id: MONDO:0016487 name: beta-thalassemia intermedia def: "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." [Orphanet:231222] subset: ordo_clinical_subtype {source="Orphanet:231222"} -xref: ICD10CM:D56.1 {source="Orphanet:231222", source="ORDO:231222/attributed", source="ORDO:231222/ntbt"} +xref: ICD10CM:D56.1 {source="Orphanet:231222/attributed", source="Orphanet:231222/ntbt", source="Orphanet:231222"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062923 {source="ORDO:231222/e", source="Orphanet:231222"} -xref: OMIM:613985 {source="MONDO:subClassOf", source="Orphanet:231222", source="ORDO:231222/ntbt"} +xref: MedDRA:10062923 {source="Orphanet:231222", source="Orphanet:231222/e"} +xref: OMIM:613985 {source="MONDO:subClassOf", source="Orphanet:231222/ntbt", source="Orphanet:231222"} xref: Orphanet:231222 {source="MONDO:equivalentTo"} xref: SCTID:191189009 {source="MONDO:equivalentTo"} -xref: UMLS:C0472767 {source="ORDO:231222/e", source="Orphanet:231222", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0472767 {source="Orphanet:231222", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:231222/e"} is_a: MONDO:0013517 ! beta-thalassemia HBB/LCRB property_value: confidence "4.714285714285714" xsd:double @@ -323311,7 +323152,7 @@ def: "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies resu comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' subset: ordo_group_of_disorders {source="Orphanet:231230"} synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [Orphanet:231230] -xref: ICD10CM:D58.2 {source="Orphanet:231230", source="ORDO:231230/attributed", source="ORDO:231230/ntbt"} +xref: ICD10CM:D58.2 {source="Orphanet:231230", source="Orphanet:231230/attributed", source="Orphanet:231230/ntbt"} xref: Orphanet:231230 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -323323,15 +323164,15 @@ id: MONDO:0016489 name: delta-beta-thalassemia def: "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." [Orphanet:231237] subset: ordo_disease {source="Orphanet:231237"} -xref: ICD10CM:D56.2 {source="MONDO:equivalentTo", source="ORDO:231237/e", source="Orphanet:231237", source="ORDO:231237/specific"} +xref: ICD10CM:D56.2 {source="MONDO:equivalentTo", source="Orphanet:231237/specific", source="Orphanet:231237", source="Orphanet:231237/e"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10012236 {source="ORDO:231237/e", source="Orphanet:231237"} +xref: MedDRA:10012236 {source="Orphanet:231237", source="Orphanet:231237/e"} xref: MESH:C562716 {source="MONDO:equivalentTo"} xref: NCIT:C172823 {source="MONDO:equivalentTo"} -xref: OMIM:141749 {source="MONDO:relatedTo", source="ORDO:231237/ntbt", source="Orphanet:231237"} +xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:231237", source="Orphanet:231237/ntbt"} xref: Orphanet:231237 {source="MONDO:equivalentTo"} xref: SCTID:16360009 {source="MONDO:equivalentTo"} -xref: UMLS:C0271985 {source="ORDO:231237/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:231237"} +xref: UMLS:C0271985 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:231237", source="Orphanet:231237/e"} is_a: MONDO:0017145 {source="Orphanet:231237"} ! beta-thalassemia and related diseases [Term] @@ -323341,7 +323182,7 @@ def: "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia r subset: ordo_disease {source="Orphanet:231242"} synonym: "C-beta-thalassemia" EXACT [Orphanet:231242] synonym: "HBC-beta-thalassemia syndrome" EXACT [Orphanet:231242] -xref: ICD10CM:D58.2 {source="Orphanet:231242", source="ORDO:231242/attributed", source="ORDO:231242/ntbt"} +xref: ICD10CM:D58.2 {source="Orphanet:231242/attributed", source="Orphanet:231242/ntbt", source="Orphanet:231242"} xref: Orphanet:231242 {source="MONDO:equivalentTo"} xref: UMLS:CN201488 {source="MONDO:equivalentTo"} is_a: MONDO:0017145 {source="Orphanet:231242"} ! beta-thalassemia and related diseases @@ -323353,9 +323194,9 @@ def: "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia t subset: ordo_disease {source="Orphanet:231249"} synonym: "E-beta-thalassemia" EXACT [Orphanet:231249] synonym: "HbE-beta-thalassemia syndrome" EXACT [Orphanet:231249] -xref: ICD10CM:D58.2 {source="ORDO:231249/attributed", source="ORDO:231249/ntbt", source="Orphanet:231249"} +xref: ICD10CM:D58.2 {source="Orphanet:231249", source="Orphanet:231249/attributed", source="Orphanet:231249/ntbt"} xref: Orphanet:231249 {source="MONDO:equivalentTo"} -xref: UMLS:C0472777 {source="MONDO:equivalentTo", source="Orphanet:231249", source="ORDO:231249/e"} +xref: UMLS:C0472777 {source="MONDO:equivalentTo", source="Orphanet:231249", source="Orphanet:231249/e"} is_a: MONDO:0017145 {source="Orphanet:231249"} ! beta-thalassemia and related diseases [Term] @@ -323364,7 +323205,7 @@ name: obsolete beta-thalassemia with other manifestations def: "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." [Orphanet:231386] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' subset: ordo_group_of_disorders {source="Orphanet:231386"} -xref: ICD10CM:D58.2 {source="Orphanet:231386", source="ORDO:231386/attributed", source="ORDO:231386/ntbt"} +xref: ICD10CM:D58.2 {source="Orphanet:231386", source="Orphanet:231386/attributed", source="Orphanet:231386/ntbt"} xref: Orphanet:231386 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -323378,7 +323219,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:231413"} synonym: "variant of GBS" EXACT [Orphanet:231413] synonym: "variant of Guillain-Barré syndrome" RELATED [Orphanet:231413] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231413/ntbt", source="Orphanet:231413"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231413", source="Orphanet:231413/ntbt"} xref: Orphanet:231413 {source="MONDO:equivalentTo"} xref: UMLS:CN201495 {source="MONDO:equivalentTo"} is_a: MONDO:0016218 {source="Orphanet:231413"} ! Guillain-Barre syndrome @@ -323390,7 +323231,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:231416"} synonym: "regional variant of GBS" EXACT [Orphanet:231416] synonym: "regional variant of Guillain-Barré syndrome" RELATED [Orphanet:231416] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231416/ntbt", source="Orphanet:231416"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231416", source="Orphanet:231416/ntbt"} xref: Orphanet:231416 {source="MONDO:equivalentTo"} xref: UMLS:CN201496 {source="MONDO:equivalentTo"} is_a: MONDO:0016493 {source="Orphanet:231416"} ! variant of Guillain-Barre syndrome @@ -323402,7 +323243,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:231419"} synonym: "functional variant of GBS" EXACT [Orphanet:231419] synonym: "functional variant of Guillain-Barré syndrome" RELATED [Orphanet:231419] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231419/ntbt", source="Orphanet:231419"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231419/ntbt", source="Orphanet:231419"} xref: Orphanet:231419 {source="MONDO:equivalentTo"} xref: UMLS:CN201497 {source="MONDO:equivalentTo"} is_a: MONDO:0016493 {source="Orphanet:231419"} ! variant of Guillain-Barre syndrome @@ -323419,7 +323260,7 @@ synonym: "pharyngeal-cervical-brachial weakness" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of GBS" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of Guillain-Barré syndrome" EXACT [Orphanet:231426] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231426/ntbt", source="Orphanet:231426"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231426/ntbt", source="Orphanet:231426"} xref: Orphanet:231426 {source="MONDO:equivalentTo"} xref: UMLS:CN201499 {source="MONDO:equivalentTo"} is_a: MONDO:0016494 {source="Orphanet:231426"} ! regional variant of Guillain-Barre syndrome @@ -323431,7 +323272,7 @@ def: "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guill subset: ordo_disease {source="Orphanet:231445"} synonym: "paraparetic variant of GBS" EXACT [Orphanet:231445] synonym: "paraparetic variant of Guillain-Barré syndrome" RELATED [Orphanet:231445] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231445/ntbt", source="Orphanet:231445"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231445", source="Orphanet:231445/ntbt"} xref: Orphanet:231445 {source="MONDO:equivalentTo"} xref: UMLS:CN201500 {source="MONDO:equivalentTo"} is_a: MONDO:0016495 {source="Orphanet:231445"} ! functional variant of Guillain-Barre syndrome @@ -323443,7 +323284,7 @@ subset: ordo_disease {source="Orphanet:231450"} synonym: "acute pure sensory GBS" EXACT [Orphanet:231450] synonym: "acute pure sensory Guillain-BarrC) syndrome" EXACT [Orphanet:231450] synonym: "acute pure sensory Guillain-Barré syndrome" EXACT [Orphanet:231450] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231450", source="ORDO:231450/ntbt"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231450", source="Orphanet:231450/ntbt"} xref: Orphanet:231450 {source="MONDO:equivalentTo"} xref: UMLS:CN201501 {source="MONDO:equivalentTo"} is_a: MONDO:0016495 {source="Orphanet:231450"} ! functional variant of Guillain-Barre syndrome @@ -323457,10 +323298,10 @@ synonym: "acute panautonomic GBS" EXACT [Orphanet:231457] synonym: "acute panautonomic Guillain-BarrC) syndrome" EXACT [Orphanet:231457] synonym: "acute panautonomic Guillain-Barré syndrome" EXACT [Orphanet:231457] synonym: "acute panautonomic neuropathy" EXACT [Orphanet:231457] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231457/ntbt", source="Orphanet:231457"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231457", source="Orphanet:231457/ntbt"} xref: Orphanet:231457 {source="MONDO:equivalentTo"} xref: SCTID:430042004 {source="MONDO:equivalentTo"} -xref: UMLS:C2315246 {source="MONDO:equivalentTo", source="ORDO:231457/e", source="Orphanet:231457"} +xref: UMLS:C2315246 {source="MONDO:equivalentTo", source="Orphanet:231457", source="Orphanet:231457/e"} is_a: MONDO:0016495 {source="Orphanet:231457"} ! functional variant of Guillain-Barre syndrome [Term] @@ -323472,7 +323313,7 @@ synonym: "acute sensory ataxic GBS" EXACT [Orphanet:231466] synonym: "acute sensory ataxic Guillain-BarrC) syndrome" EXACT [Orphanet:231466] synonym: "acute sensory ataxic Guillain-Barré syndrome" EXACT [Orphanet:231466] synonym: "ASAN" EXACT ABBREVIATION [Orphanet:231466] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:231466/ntbt", source="Orphanet:231466"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:231466", source="Orphanet:231466/ntbt"} xref: Orphanet:231466 {source="MONDO:equivalentTo"} xref: SCTID:766049000 {source="MONDO:equivalentTo"} xref: UMLS:CN201503 {source="MONDO:equivalentTo"} @@ -323484,9 +323325,9 @@ name: Hermansky-Pudlak syndrome with pulmonary fibrosis def: "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." [Orphanet:231500] subset: ordo_clinical_subtype {source="Orphanet:231500"} synonym: "HPS with pulmonary fibrosis" EXACT [Orphanet:231500] -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="ORDO:231500/attributed", source="ORDO:231500/ntbt", source="Orphanet:231500"} -xref: OMIM:203300 {source="ORDO:231500/btnt", source="Orphanet:231500", source="MONDO:superClassOf"} -xref: OMIM:614073 {source="ORDO:231500/btnt", source="Orphanet:231500", source="MONDO:superClassOf"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231500", source="Orphanet:231500/attributed", source="Orphanet:231500/ntbt"} +xref: OMIM:203300 {source="Orphanet:231500", source="MONDO:superClassOf", source="Orphanet:231500/btnt"} +xref: OMIM:614073 {source="Orphanet:231500", source="MONDO:superClassOf", source="Orphanet:231500/btnt"} xref: Orphanet:231500 {source="MONDO:equivalentTo"} xref: UMLS:CN201506 {source="MONDO:equivalentTo"} is_a: MONDO:0017014 ! interstitial lung disease specific to childhood @@ -323498,10 +323339,10 @@ name: Hermansky-Pudlak syndrome without pulmonary fibrosis def: "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." [Orphanet:231512] subset: ordo_clinical_subtype {source="Orphanet:231512"} synonym: "HPS without pulmonary fibrosis" EXACT [Orphanet:231512] -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="ORDO:231512/attributed", source="ORDO:231512/ntbt", source="Orphanet:231512"} -xref: OMIM:614072 {source="ORDO:231512/btnt", source="MONDO:superClassOf", source="Orphanet:231512"} -xref: OMIM:614074 {source="ORDO:231512/btnt", source="MONDO:superClassOf", source="Orphanet:231512"} -xref: OMIM:614075 {source="ORDO:231512/btnt", source="MONDO:superClassOf", source="Orphanet:231512"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231512", source="Orphanet:231512/attributed", source="Orphanet:231512/ntbt"} +xref: OMIM:614072 {source="MONDO:superClassOf", source="Orphanet:231512", source="Orphanet:231512/btnt"} +xref: OMIM:614074 {source="MONDO:superClassOf", source="Orphanet:231512", source="Orphanet:231512/btnt"} +xref: OMIM:614075 {source="MONDO:superClassOf", source="Orphanet:231512", source="Orphanet:231512/btnt"} xref: Orphanet:231512 {source="MONDO:equivalentTo"} xref: UMLS:CN201507 {source="MONDO:equivalentTo"} is_a: MONDO:0019312 {source="Orphanet:231512"} ! Hermansky-Pudlak syndrome @@ -323523,7 +323364,7 @@ name: primary unilateral adrenal hyperplasia def: "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." [Orphanet:231580] subset: ordo_disease {source="Orphanet:231580"} synonym: "PUAH" EXACT ABBREVIATION [Orphanet:231580] -xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="ORDO:231580/ntbt", source="Orphanet:231580"} +xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="Orphanet:231580/ntbt", source="Orphanet:231580"} xref: Orphanet:231580 {source="MONDO:equivalentTo"} xref: SCTID:715868005 {source="MONDO:equivalentTo"} xref: UMLS:C4274967 {source="MONDO:equivalentTo"} @@ -323543,7 +323384,7 @@ synonym: "Pure aldosterone-producing adrenocortical carcinoma" EXACT [Orphanet:2 synonym: "Pure aldosterone-secreting adrenocortical carcinoma" EXACT [Orphanet:231625] synonym: "Pure APAC" EXACT [Orphanet:231625] xref: EFO:1000015 {source="MONDO:equivalentTo"} -xref: ICD10CM:C74.0 {source="ORDO:231625/ntbt", source="Orphanet:231625"} +xref: ICD10CM:C74.0 {source="Orphanet:231625", source="Orphanet:231625/ntbt"} xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="EFO:1000015"} xref: MedDRA:10056950 {source="EFO:1000015"} xref: MESH:D018246 {source="EFO:1000015", source="MONDO:directSiblingOf"} @@ -323562,7 +323403,7 @@ name: ectopic aldosterone-producing tumor def: "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." [Orphanet:231632] subset: ordo_disease {source="Orphanet:231632"} synonym: "Extra-adrenal aldosterone-producing tumor" EXACT [Orphanet:231632] -xref: ICD10CM:E26.8 {source="ORDO:231632/ntbt", source="Orphanet:231632"} +xref: ICD10CM:E26.8 {source="Orphanet:231632", source="Orphanet:231632/ntbt"} xref: Orphanet:231632 {source="MONDO:equivalentTo"} xref: UMLS:CN201515 {source="MONDO:equivalentTo"} is_a: MONDO:0001422 {source="MONDO:0016508-obsoleted"} ! primary aldosteronism @@ -323601,7 +323442,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:231736"} synonym: "microcornea posterior megalolenticonus persistent fetal vasculature coloboma" RELATED [GARD:0010938] synonym: "MPPC syndrome" EXACT [Orphanet:231736] xref: GARD:0010938 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q15.8 {source="ORDO:231736/ntbt", source="Orphanet:231736"} +xref: ICD10CM:Q15.8 {source="Orphanet:231736/ntbt", source="Orphanet:231736"} xref: Orphanet:231736 {source="MONDO:equivalentTo"} xref: UMLS:CN201521 {source="MONDO:equivalentTo"} is_a: MONDO:0020145 {source="Orphanet:231736"} ! developmental defect of the eye @@ -323639,17 +323480,17 @@ synonym: "Niikawa-Kuroki syndrome" EXACT [DOID:0060473, Orphanet:2322] synonym: "NKS" RELATED ABBREVIATION [GARD:0006810] xref: DOID:0060473 {source="MONDO:equivalentTo"} xref: GARD:0006810 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2322", source="ORDO:2322/attributed", source="ORDO:2322/ntbt"} -xref: MedDRA:10063935 {source="Orphanet:2322", source="ORDO:2322/e"} -xref: MESH:C537705 {source="DOID:0060473", source="Orphanet:2322", source="ORDO:2322/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.0 {source="Orphanet:2322", source="Orphanet:2322/attributed", source="Orphanet:2322/ntbt"} +xref: MedDRA:10063935 {source="Orphanet:2322", source="Orphanet:2322/e"} +xref: MESH:C537705 {source="DOID:0060473", source="Orphanet:2322", source="MONDO:equivalentTo", source="Orphanet:2322/e"} xref: NCIT:C124837 {source="MONDO:equivalentTo"} -xref: OMIM:147920 {source="DOID:0060473", source="Orphanet:2322", source="ORDO:2322/e", source="MONDO:superClassOf"} -xref: OMIM:300867 {source="DOID:0060473", source="Orphanet:2322", source="MONDO:superClassOf", source="ORDO:2322/btnt"} +xref: OMIM:147920 {source="DOID:0060473", source="Orphanet:2322", source="MONDO:superClassOf", source="Orphanet:2322/e"} +xref: OMIM:300867 {source="DOID:0060473", source="Orphanet:2322", source="Orphanet:2322/btnt", source="MONDO:superClassOf"} xref: OMIMPS:147920 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2322 {source="DOID:0060473", source="MONDO:equivalentTo"} xref: SCTID:205805008 {source="DOID:0060473"} xref: SCTID:313426007 {source="DOID:0060473", source="MONDO:equivalentTo"} -xref: UMLS:C0796004 {source="DOID:0060473", source="NCIT:C124837", source="Orphanet:2322", source="ORDO:2322/e", source="MONDO:equivalentTo"} +xref: UMLS:C0796004 {source="DOID:0060473", source="NCIT:C124837", source="Orphanet:2322", source="MONDO:equivalentTo", source="Orphanet:2322/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2322", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="DOID:0060473", source="MONDO:Redundant", source="NCIT:C124837", source="indirect"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -323667,7 +323508,7 @@ name: alpha-thalassemia-related diseases def: "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" [Orphanet:232288] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:232288"} -xref: ICD10CM:D56.0 {source="Orphanet:232288", source="ORDO:232288/attributed", source="ORDO:232288/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:D56.0 {source="Orphanet:232288", source="Orphanet:232288/attributed", source="Orphanet:232288/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:232288 {source="MONDO:equivalentTo"} xref: UMLS:CN201534 {source="MONDO:equivalentTo"} is_a: MONDO:0017144 {source="Orphanet:232288"} ! alpha-thalassemia and related diseases @@ -323679,9 +323520,9 @@ name: epidermolysis bullosa simplex with anodontia/hypodontia subset: ordo_malformation_syndrome {source="Orphanet:2325"} synonym: "Gamborg-Nielsen syndrome" EXACT [Orphanet:2325] synonym: "Kallin syndrome" EXACT [Orphanet:2325] -xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="ORDO:2325/attributed", source="ORDO:2325/ntbt", source="Orphanet:2325"} +xref: ICD10CM:Q81.0 {source="MONDO:subClassOf", source="Orphanet:2325", source="Orphanet:2325/attributed", source="Orphanet:2325/ntbt"} xref: Orphanet:2325 {source="MONDO:equivalentTo"} -xref: UMLS:C0432313 {source="ORDO:2325/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2325"} +xref: UMLS:C0432313 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2325", source="Orphanet:2325/e"} is_a: MONDO:0000001 {source="MONDO:0020014-obsoleted"} ! disease or disorder is_a: MONDO:0017610 {source="Orphanet:2325"} ! epidermolysis bullosa simplex @@ -323690,7 +323531,7 @@ id: MONDO:0016515 name: Kallmann syndrome-heart disease syndrome def: "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." [Orphanet:2326] subset: ordo_malformation_syndrome {source="Orphanet:2326"} -xref: ICD10CM:Q24.8 {source="ORDO:2326/attributed", source="ORDO:2326/ntbt", source="Orphanet:2326"} +xref: ICD10CM:Q24.8 {source="Orphanet:2326", source="Orphanet:2326/attributed", source="Orphanet:2326/ntbt"} xref: Orphanet:2326 {source="MONDO:equivalentTo"} xref: UMLS:CN201538 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:2326", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -323705,16 +323546,16 @@ name: Kenny-Caffey syndrome def: "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." [NCIT:C130991] subset: ordo_malformation_syndrome {source="Orphanet:2333"} synonym: "Kenny syndrome" EXACT [Orphanet:2333] -xref: ICD10CM:Q87.1 {source="Orphanet:2333", source="ORDO:2333/attributed", source="ORDO:2333/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:2333", source="Orphanet:2333/attributed", source="Orphanet:2333/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537020 {source="Orphanet:2333", source="ORDO:2333/e", source="MONDO:equivalentTo"} +xref: MESH:C537020 {source="Orphanet:2333", source="MONDO:equivalentTo", source="Orphanet:2333/e"} xref: NCIT:C130991 {source="MONDO:equivalentTo"} -xref: OMIM:127000 {source="Orphanet:2333", source="MONDO:superClassOf", source="ORDO:2333/btnt"} -xref: OMIM:244460 {source="Orphanet:2333", source="MONDO:superClassOf", source="ORDO:2333/btnt"} +xref: OMIM:127000 {source="Orphanet:2333", source="Orphanet:2333/btnt", source="MONDO:superClassOf"} +xref: OMIM:244460 {source="Orphanet:2333", source="Orphanet:2333/btnt", source="MONDO:superClassOf"} xref: OMIMPS:127000 {source="MONDO:equivalentTo"} xref: Orphanet:2333 {source="MONDO:equivalentTo"} xref: SCTID:82837002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265291 {source="Orphanet:2333", source="ORDO:2333/e", source="MONDO:equivalentTo", source="NCIT:C130991"} +xref: UMLS:C0265291 {source="Orphanet:2333", source="MONDO:equivalentTo", source="Orphanet:2333/e", source="NCIT:C130991"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130991", source="indirect"} ! syndromic disease is_a: MONDO:0019699 {source="Orphanet:2333"} ! slender bone dysplasia relationship: has_modifier MONDO:0021152 {source="OMIMPS:127000"} ! inherited @@ -323742,9 +323583,9 @@ subset: ordo_group_of_disorders {source="Orphanet:2338"} synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [Orphanet:2338] synonym: "isolated punctate PPK" EXACT [Orphanet:2338] synonym: "nonsyndromic punctate palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q82.8 {source="ORDO:2338/attributed", source="ORDO:2338/ntbt", source="Orphanet:2338"} +xref: ICD10CM:Q82.8 {source="Orphanet:2338", source="Orphanet:2338/attributed", source="Orphanet:2338/ntbt"} xref: Orphanet:2338 {source="MONDO:equivalentTo"} -xref: UMLS:C1274216 {source="ORDO:2338/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2338"} +xref: UMLS:C1274216 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2338", source="Orphanet:2338/e"} is_a: MONDO:0017675 {source="MONDO:Redundant", source="Orphanet:2338"} ! punctate palmoplantar keratoderma intersection_of: MONDO:0017675 ! punctate palmoplantar keratoderma intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -323765,10 +323606,10 @@ synonym: "congenital fused cervical segments" EXACT [Orphanet:2345] synonym: "Klippel-Feil malformation" EXACT [Orphanet:2345] synonym: "Klippel-Feil sequence" EXACT [Orphanet:2345] synonym: "nonsyndromic Klippel-Feil syndrome" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q76.1 {source="MONDO:subClassOf", source="ORDO:2345/e", source="ORDO:2345/specific", source="Orphanet:2345"} -xref: OMIM:118100 {source="Orphanet:2345", source="MONDO:superClassOf", source="ORDO:2345/btnt"} -xref: OMIM:214300 {source="Orphanet:2345", source="MONDO:superClassOf", source="ORDO:2345/btnt"} -xref: OMIM:613702 {source="Orphanet:2345", source="MONDO:superClassOf", source="ORDO:2345/btnt"} +xref: ICD10CM:Q76.1 {source="MONDO:subClassOf", source="Orphanet:2345", source="Orphanet:2345/specific", source="Orphanet:2345/e"} +xref: OMIM:118100 {source="Orphanet:2345/btnt", source="Orphanet:2345", source="MONDO:superClassOf"} +xref: OMIM:214300 {source="Orphanet:2345/btnt", source="Orphanet:2345", source="MONDO:superClassOf"} +xref: OMIM:613702 {source="Orphanet:2345/btnt", source="Orphanet:2345", source="MONDO:superClassOf"} xref: Orphanet:2345 {source="MONDO:equivalentTo"} xref: UMLS:C0022738 {source="Orphanet:2345", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0001029 ! Klippel-Feil syndrome @@ -323783,7 +323624,7 @@ subset: ordo_disease {source="Orphanet:2349"} synonym: "Hoffman syndrome" EXACT [Orphanet:2349] synonym: "Kocher-DebrC)-Semelaigne syndrome" EXACT [Orphanet:2349] synonym: "Kocher-Debré-Semelaigne syndrome" EXACT [Orphanet:2349] -xref: ICD10CM:E03.1 {source="ORDO:2349/attributed", source="ORDO:2349/ntbt", source="Orphanet:2349"} +xref: ICD10CM:E03.1 {source="Orphanet:2349", source="Orphanet:2349/attributed", source="Orphanet:2349/ntbt"} xref: Orphanet:2349 {source="MONDO:equivalentTo"} xref: SCTID:716338001 {source="MONDO:equivalentTo"} xref: UMLS:C0270958 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2349"} @@ -323798,11 +323639,11 @@ synonym: "sacral meningocele conotruncal heart defects" RELATED [GARD:0004752] synonym: "sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck" RELATED [GARD:0004752] synonym: "sacral meningocele-conotruncal heart defects syndrome" EXACT [Orphanet:2351] xref: GARD:0004752 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2351/ntbt", source="Orphanet:2351"} +xref: ICD10CM:Q87.8 {source="Orphanet:2351/ntbt", source="Orphanet:2351"} xref: MESH:C537223 {source="MONDO:equivalentTo"} xref: Orphanet:2351 {source="MONDO:equivalentTo"} xref: SCTID:726083008 {source="MONDO:equivalentTo"} -xref: UMLS:C2931444 {source="MONDO:equivalentTo", source="Orphanet:2351", source="ORDO:2351/e"} +xref: UMLS:C2931444 {source="Orphanet:2351/e", source="MONDO:equivalentTo", source="Orphanet:2351"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease [Term] @@ -323814,11 +323655,11 @@ synonym: "bronchogenic cyst" EXACT [MONDO:ambiguous] synonym: "bronchogenic cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0001025 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0100730 {source="MONDO:otherHierarchy"} -xref: ICD10CM:J98.4 {source="Orphanet:2357", source="ORDO:2357/ntbt"} -xref: MedDRA:10064585 {source="Orphanet:2357", source="ORDO:2357/e"} -xref: MESH:D001994 {source="Orphanet:2357", source="ORDO:2357/e", source="MONDO:equivalentTo"} +xref: ICD10CM:J98.4 {source="Orphanet:2357/ntbt", source="Orphanet:2357"} +xref: MedDRA:10064585 {source="Orphanet:2357", source="Orphanet:2357/e"} +xref: MESH:D001994 {source="Orphanet:2357", source="MONDO:equivalentTo", source="Orphanet:2357/e"} xref: Orphanet:2357 {source="MONDO:equivalentTo"} -xref: UMLS:C0006281 {source="Orphanet:2357", source="ORDO:2357/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0006281 {source="Orphanet:2357", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2357/e"} is_a: MONDO:0015221 {source="Orphanet:2357"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:2357"} ! respiratory malformation property_value: IAO:0000589 "bronchogenic cyst (disease)" xsd:string @@ -323843,7 +323684,7 @@ subset: ordo_group_of_disorders {source="Orphanet:371861", source="Orphanet:2359 synonym: "FH" EXACT ABBREVIATION [Orphanet:235936] synonym: "genetic hyperaldosteronism" EXACT [MONDO:0018300, MONDO:patterns/genetic] synonym: "hereditary hyperaldosteronism" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:235936/attributed", source="ORDO:235936/ntbt", source="ORDO:371861/attributed", source="ORDO:371861/ntbt", source="Orphanet:371861", source="Orphanet:235936"} +xref: ICD10CM:E26.0 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:371861", source="Orphanet:235936/attributed", source="Orphanet:235936/ntbt", source="Orphanet:235936", source="Orphanet:371861/attributed", source="Orphanet:371861/ntbt"} xref: MESH:C580087 {source="MONDO:equivalentTo"} xref: NCIT:C127160 {source="MONDO:equivalentTo"} xref: OMIMPS:103900 {source="MONDO:equivalentTo"} @@ -323882,7 +323723,7 @@ synonym: "partial trisomy of the short arm of chromosome type 9" EXACT [MONDORUL synonym: "trisomy of the short arm of chromosome 9" EXACT [Orphanet:236] synonym: "trisomy type 9p" EXACT [MONDORULE:4, Orphanet:236] xref: GARD:0005364 {source="MONDO:equivalentTo"} -xref: ICD10:Q92.2 {source="Orphanet:236", source="ORDO:236/attributed", source="ORDO:236/ntbt"} +xref: ICD10:Q92.2 {source="Orphanet:236", source="Orphanet:236/attributed", source="Orphanet:236/ntbt"} xref: Orphanet:236 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:262767 {source="MONDO:equivalentTo"} xref: UMLS:C0265428 {source="Orphanet:236", source="MONDO:equivalentTo", source="GARD:0005364"} @@ -323902,10 +323743,10 @@ synonym: "GSD due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364] synonym: "lactate dehydrogenase deficiency" RELATED [GARD:0003159] synonym: "LDH deficiency" EXACT [Orphanet:2364] xref: GARD:0003159 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E74.4 {source="Orphanet:2364", source="ORDO:2364/attributed", source="ORDO:2364/ntbt"} +xref: ICD10CM:E74.4 {source="Orphanet:2364", source="Orphanet:2364/attributed", source="Orphanet:2364/ntbt"} xref: MESH:C580233 {source="MONDO:equivalentTo"} -xref: OMIM:612933 {source="Orphanet:2364", source="MONDO:superClassOf", source="ORDO:2364/btnt"} -xref: OMIM:614128 {source="Orphanet:2364", source="MONDO:superClassOf", source="ORDO:2364/btnt"} +xref: OMIM:612933 {source="Orphanet:2364", source="Orphanet:2364/btnt", source="MONDO:superClassOf"} +xref: OMIM:614128 {source="Orphanet:2364", source="Orphanet:2364/btnt", source="MONDO:superClassOf"} xref: Orphanet:2364 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2364"} ! glycogen storage disease intersection_of: MONDO:0002412 ! glycogen storage disease @@ -323925,7 +323766,7 @@ synonym: "limb-body wall complex" RELATED [GARD:0003251] synonym: "short umbilical cord syndrome" RELATED [GARD:0003251] synonym: "umbilical cord, short" RELATED [GARD:0003251] xref: GARD:0003251 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2369/ntbt", source="Orphanet:2369"} +xref: ICD10CM:Q87.8 {source="Orphanet:2369", source="Orphanet:2369/ntbt"} xref: Orphanet:2369 {source="MONDO:equivalentTo"} xref: SCTID:716106000 {source="MONDO:equivalentTo"} xref: UMLS:C0266786 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0003251"} @@ -323942,11 +323783,11 @@ subset: gard_rare {source="GARD:0001975"} subset: ordo_morphological_anomaly {source="Orphanet:237"} synonym: "urethral duplication" RELATED [GARD:0001975] xref: GARD:0001975 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q64.7 {source="Orphanet:237", source="ORDO:237/inclusion", source="ORDO:237/ntbt"} +xref: ICD10CM:Q64.7 {source="Orphanet:237/ntbt", source="Orphanet:237", source="Orphanet:237/inclusion"} xref: ICD9:753.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:237 {source="MONDO:equivalentTo"} xref: SCTID:69015003 {source="MONDO:equivalentTo"} -xref: UMLS:C0266348 {source="Orphanet:237", source="MONDO:notFoundInDiseaseSubset", source="ORDO:237/e"} +xref: UMLS:C0266348 {source="Orphanet:237", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:237/e"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:237", source="Orphanet:237/inferred"} ! kidney disorder is_a: MONDO:0015934 {source="Orphanet:237"} ! non-syndromic urogenital tract malformation of male and female is_a: MONDO:0019720 {source="Orphanet:237"} ! non-syndromic renal or urinary tract malformation @@ -323961,14 +323802,14 @@ def: "A rare congenital malformation in the larynx. It is characterized by the p subset: gard_rare {source="GARD:0003191"} subset: ordo_malformation_syndrome {source="Orphanet:2372"} xref: GARD:0003191 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q31.3 {source="MONDO:equivalentTo", source="ORDO:2372/e", source="Orphanet:2372"} +xref: ICD10CM:Q31.3 {source="Orphanet:2372/e", source="MONDO:equivalentTo", source="Orphanet:2372"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10023885 {source="ORDO:2372/e", source="Orphanet:2372"} +xref: MedDRA:10023885 {source="Orphanet:2372/e", source="Orphanet:2372"} xref: MESH:D059608 {source="MONDO:equivalentTo"} xref: NCIT:C97062 {source="MONDO:equivalentTo"} xref: Orphanet:2372 {source="MONDO:equivalentTo"} xref: SCTID:51523009 {source="MONDO:equivalentTo"} -xref: UMLS:C0265761 {source="NCIT:C97062", source="MONDO:equivalentTo", source="ORDO:2372/e", source="Orphanet:2372"} +xref: UMLS:C0265761 {source="NCIT:C97062", source="Orphanet:2372/e", source="MONDO:equivalentTo", source="Orphanet:2372"} is_a: MONDO:0015504 {source="Orphanet:2372"} ! larynx anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3191/laryngocele xsd:anyURI {source="GARD:0003191"} @@ -323976,7 +323817,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3191/laryngoc id: MONDO:0016531 name: digestive duplication subset: ordo_morphological_anomaly {source="Orphanet:238"} -xref: ICD10CM:Q45.8 {source="Orphanet:238", source="ORDO:238/inclusion", source="ORDO:238/ntbt"} +xref: ICD10CM:Q45.8 {source="Orphanet:238/inclusion", source="Orphanet:238", source="Orphanet:238/ntbt"} xref: Orphanet:238 {source="MONDO:equivalentTo"} is_a: MONDO:0015211 {source="Orphanet:238"} ! non-syndromic intestinal malformation @@ -323993,18 +323834,18 @@ synonym: "LGS" EXACT ABBREVIATION [NCIT:C84816] synonym: "macrocephaly and epileptic encephalopathy" RELATED [OMIM:606369] xref: DOID:0050561 {source="MONDO:equivalentTo"} xref: GARD:0009912 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="ORDO:2382/inclusion", source="Orphanet:2382", source="ORDO:2382/ntbt"} -xref: MedDRA:10048816 {source="Orphanet:2382", source="ORDO:2382/e"} -xref: MESH:C535500 {source="Orphanet:2382", source="ORDO:2382/e"} +xref: ICD10CM:G40.4 {source="Orphanet:2382/ntbt", source="Orphanet:2382/inclusion", source="Orphanet:2382"} +xref: MedDRA:10048816 {source="Orphanet:2382/e", source="Orphanet:2382"} +xref: MESH:C535500 {source="Orphanet:2382/e", source="Orphanet:2382"} xref: MESH:D065768 {source="MONDO:equivalentTo"} xref: NCIT:C84816 {source="MONDO:equivalentTo"} xref: OMIM:606369 {source="DOID:0050561", source="MONDO:equivalentTo"} -xref: OMIM:615369 {source="MONDO:superClassOf", source="Orphanet:2382", source="ORDO:2382/btnt"} -xref: OMIM:616346 {source="MONDO:superClassOf", source="Orphanet:2382", source="ORDO:2382/btnt"} -xref: OMIM:617113 {source="MONDO:superClassOf", source="Orphanet:2382", source="ORDO:2382/btnt"} +xref: OMIM:615369 {source="MONDO:superClassOf", source="Orphanet:2382/btnt", source="Orphanet:2382"} +xref: OMIM:616346 {source="MONDO:superClassOf", source="Orphanet:2382/btnt", source="Orphanet:2382"} +xref: OMIM:617113 {source="MONDO:superClassOf", source="Orphanet:2382/btnt", source="Orphanet:2382"} xref: Orphanet:2382 {source="MONDO:equivalentTo"} xref: SCTID:230418006 {source="MONDO:equivalentTo"} -xref: UMLS:C0238111 {source="MONDO:equivalentTo", source="NCIT:C84816", source="Orphanet:2382", source="ORDO:2382/e"} +xref: UMLS:C0238111 {source="Orphanet:2382/e", source="MONDO:equivalentTo", source="NCIT:C84816", source="Orphanet:2382"} xref: UMLS:C1853372 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3807541 {source="OMIM:606369", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000414 {source="DOID:0050561"} ! childhood electroclinical syndrome @@ -324021,7 +323862,7 @@ synonym: "familial amyloid nephropathy due to apolipoprotein A-II variant" EXACT synonym: "familial renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269] synonym: "hereditary amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269] synonym: "hereditary renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269] -xref: ICD10CM:E85.0 {source="Orphanet:238269", source="ORDO:238269/attributed", source="ORDO:238269/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:238269", source="Orphanet:238269/attributed", source="Orphanet:238269/ntbt"} xref: Orphanet:238269 {source="MONDO:equivalentTo"} xref: UMLS:CN201610 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:238269"} ! familial visceral amyloidosis @@ -324030,7 +323871,7 @@ is_a: MONDO:0007099 {source="Orphanet:238269"} ! familial visceral amyloidosis id: MONDO:0016534 name: infundibulo-neurohypophysitis subset: ordo_disease {source="Orphanet:238305"} -xref: ICD10CM:E23.6 {source="Orphanet:238305", source="ORDO:238305/ntbt"} +xref: ICD10CM:E23.6 {source="Orphanet:238305", source="Orphanet:238305/ntbt"} xref: Orphanet:238305 {source="MONDO:equivalentTo"} is_a: MONDO:0019835 {source="Orphanet:238305"} ! primary hypophysitis @@ -324055,16 +323896,16 @@ synonym: "hypohidrotic X-linked ectodermal dysplasia" EXACT [DOID:14793] xref: DOID:14793 {source="MONDO:equivalentTo"} xref: GARD:0000076 {source="MONDO:equivalentTo"} xref: HP:0007607 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q82.4 {source="Orphanet:238468", source="ORDO:238468/e", source="ORDO:238468/specific"} +xref: ICD10CM:Q82.4 {source="Orphanet:238468", source="Orphanet:238468/e", source="Orphanet:238468/specific"} xref: MESH:D053358 {source="DOID:14793"} xref: NCIT:C84562 {source="MONDO:equivalentTo", source="DOID:14793"} -xref: OMIM:129490 {source="Orphanet:238468", source="MONDO:superClassOf", source="DOID:14793", source="ORDO:238468/btnt"} -xref: OMIM:224900 {source="Orphanet:238468", source="MONDO:superClassOf", source="DOID:14793", source="ORDO:238468/btnt"} -xref: OMIM:300291 {source="Orphanet:238468", source="MONDO:superClassOf", source="DOID:14793", source="ORDO:238468/btnt"} -xref: OMIM:305100 {source="Orphanet:238468", source="MONDO:superClassOf", source="DOID:14793", source="ORDO:238468/btnt"} -xref: OMIM:612132 {source="Orphanet:238468", source="MONDO:superClassOf", source="ORDO:238468/btnt"} -xref: OMIM:614940 {source="Orphanet:238468", source="MONDO:superClassOf", source="ORDO:238468/btnt"} -xref: OMIM:614941 {source="Orphanet:238468", source="MONDO:superClassOf", source="ORDO:238468/btnt"} +xref: OMIM:129490 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf", source="DOID:14793"} +xref: OMIM:224900 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf", source="DOID:14793"} +xref: OMIM:300291 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf", source="DOID:14793"} +xref: OMIM:305100 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf", source="DOID:14793"} +xref: OMIM:612132 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf"} +xref: OMIM:614940 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf"} +xref: OMIM:614941 {source="Orphanet:238468", source="Orphanet:238468/btnt", source="MONDO:superClassOf"} xref: Orphanet:238468 {source="MONDO:equivalentTo"} xref: SCTID:239007005 {source="MONDO:superClassOf", source="DOID:14793"} xref: SCTID:4826006 {source="DOID:14793"} @@ -324086,9 +323927,9 @@ name: autosomal recessive lymphoproliferative disease def: "A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." [Orphanet:238505] subset: ordo_disease {source="Orphanet:238505"} synonym: "CD27 deficiency" EXACT [Orphanet:238505] -xref: ICD10CM:D47.9 {source="Orphanet:238505", source="ORDO:238505/attributed", source="ORDO:238505/ntbt"} -xref: OMIM:613011 {source="Orphanet:238505", source="ORDO:238505/btnt", source="MONDO:superClassOf"} -xref: OMIM:615122 {source="Orphanet:238505", source="ORDO:238505/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:D47.9 {source="Orphanet:238505/attributed", source="Orphanet:238505/ntbt", source="Orphanet:238505"} +xref: OMIM:613011 {source="Orphanet:238505/btnt", source="Orphanet:238505", source="MONDO:superClassOf"} +xref: OMIM:615122 {source="Orphanet:238505/btnt", source="Orphanet:238505", source="MONDO:superClassOf"} xref: Orphanet:238505 {source="MONDO:equivalentTo"} is_a: MONDO:0016537 {source="Orphanet:238505"} ! lymphoproliferative syndrome is_a: MONDO:0018814 {source="Orphanet:238505"} ! non-SCID combined immunodeficiency @@ -324126,8 +323967,8 @@ name: atypical hypotonia-cystinuria syndrome def: "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." [Orphanet:238523] subset: ordo_disease {source="Orphanet:238523"} synonym: "atypical HCS" EXACT [Orphanet:238523] -xref: ICD10CM:E72.0 {source="Orphanet:238523", source="ORDO:238523/attributed", source="ORDO:238523/ntbt"} -xref: OMIM:606407 {source="MONDO:subClassOf", source="Orphanet:238523", source="ORDO:238523/ntbt"} +xref: ICD10CM:E72.0 {source="Orphanet:238523", source="Orphanet:238523/attributed", source="Orphanet:238523/ntbt"} +xref: OMIM:606407 {source="MONDO:subClassOf", source="Orphanet:238523", source="Orphanet:238523/ntbt"} xref: Orphanet:238523 {source="MONDO:equivalentTo"} xref: UMLS:CN201620 {source="MONDO:equivalentTo"} is_a: MONDO:0011669 {source="Orphanet:238523"} ! hypotonia-cystinuria syndrome @@ -324140,7 +323981,7 @@ name: congenital secondary polycythemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:238536"} synonym: "congenital secondary erythrocytosis" EXACT [Orphanet:238536] -xref: ICD10CM:D75.1 {source="Orphanet:238536", source="ORDO:238536/attributed", source="ORDO:238536/ntbt"} +xref: ICD10CM:D75.1 {source="Orphanet:238536", source="Orphanet:238536/attributed", source="Orphanet:238536/ntbt"} xref: Orphanet:238536 {source="MONDO:equivalentTo"} is_a: MONDO:0020115 {source="Orphanet:238536"} ! secondary polycythemia relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -324154,7 +323995,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:238547"} synonym: "acquired secondary erythrocytosis" EXACT [Orphanet:238547] synonym: "acquired secondary polycythemia" EXACT [MONDO:patterns/acquired] -xref: ICD10CM:D75.1 {source="Orphanet:238547", source="ORDO:238547/ntbt"} +xref: ICD10CM:D75.1 {source="Orphanet:238547", source="Orphanet:238547/ntbt"} xref: Orphanet:238547 {source="MONDO:equivalentTo"} xref: UMLS:C1318533 {source="MONDO:subClassOf", source="Orphanet:238547"} is_a: MONDO:0020115 {source="MONDO:Redundant", source="Orphanet:238547"} ! secondary polycythemia @@ -324171,10 +324012,10 @@ synonym: "autosomal recessive early-onset inflammatory bowel disease" RELATED [G synonym: "IL10-related early-onset IBD" EXACT [Orphanet:238569] synonym: "IL10-related early-onset inflammatory bowel disease" EXACT [Orphanet:238569] xref: GARD:0013016 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K52.8 {source="Orphanet:238569", source="ORDO:238569/attributed", source="ORDO:238569/ntbt"} -xref: OMIM:612567 {source="Orphanet:238569", source="MONDO:superClassOf", source="ORDO:238569/btnt"} -xref: OMIM:613148 {source="Orphanet:238569", source="MONDO:superClassOf", source="ORDO:238569/btnt"} -xref: OMIM:615767 {source="Orphanet:238569", source="MONDO:superClassOf", source="ORDO:238569/btnt"} +xref: ICD10CM:K52.8 {source="Orphanet:238569", source="Orphanet:238569/attributed", source="Orphanet:238569/ntbt"} +xref: OMIM:612567 {source="Orphanet:238569", source="Orphanet:238569/btnt", source="MONDO:superClassOf"} +xref: OMIM:613148 {source="Orphanet:238569", source="Orphanet:238569/btnt", source="MONDO:superClassOf"} +xref: OMIM:615767 {source="Orphanet:238569", source="Orphanet:238569/btnt", source="MONDO:superClassOf"} xref: Orphanet:238569 {source="MONDO:equivalentTo"} xref: UMLS:CN201623 {source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of immunity @@ -324193,15 +324034,15 @@ synonym: "hyperphenylalaninemia due to BH4 deficiency" EXACT [Orphanet:238583] synonym: "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" EXACT [Orphanet:238583] synonym: "non-phenylketonuric hyperphenylalaninemia" EXACT [Orphanet:238583] xref: GARD:0007751 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.1 {source="ORDO:238583/attributed", source="ORDO:238583/ntbt", source="Orphanet:238583"} -xref: OMIM:233910 {source="ORDO:238583/btnt", source="MONDO:superClassOf", source="Orphanet:238583"} -xref: OMIM:261630 {source="ORDO:238583/btnt", source="MONDO:superClassOf", source="Orphanet:238583"} -xref: OMIM:261640 {source="ORDO:238583/btnt", source="MONDO:superClassOf", source="Orphanet:238583"} -xref: OMIM:264070 {source="ORDO:238583/btnt", source="MONDO:superClassOf", source="Orphanet:238583"} +xref: ICD10CM:E70.1 {source="Orphanet:238583", source="Orphanet:238583/attributed", source="Orphanet:238583/ntbt"} +xref: OMIM:233910 {source="MONDO:superClassOf", source="Orphanet:238583", source="Orphanet:238583/btnt"} +xref: OMIM:261630 {source="MONDO:superClassOf", source="Orphanet:238583", source="Orphanet:238583/btnt"} +xref: OMIM:261640 {source="MONDO:superClassOf", source="Orphanet:238583", source="Orphanet:238583/btnt"} +xref: OMIM:264070 {source="MONDO:superClassOf", source="Orphanet:238583", source="Orphanet:238583/btnt"} xref: Orphanet:238583 {source="MONDO:equivalentTo"} xref: SCTID:68528007 {source="MONDO:equivalentTo"} xref: UMLS:C0751435 {source="MONDO:equivalentTo", source="Orphanet:238583"} -xref: UMLS:C0751436 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238583", source="ORDO:238583/e"} +xref: UMLS:C0751436 {source="Orphanet:238583/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238583"} is_a: MONDO:0017756 {source="Orphanet:238583"} ! disorder of pterin metabolism relationship: disease_shares_features_of MONDO:0009861 ! phenylketonuria relationship: has_modifier HP:0000007 {source="Orphanet:238583"} ! Autosomal recessive inheritance @@ -324218,7 +324059,7 @@ synonym: "mesenteric lipogranuloma" EXACT [Orphanet:238593] synonym: "mesenteric panniculitis" EXACT [Orphanet:238593] synonym: "sclerosing mesenteritis" EXACT [Orphanet:238593] xref: GARD:0008169 {source="MONDO:equivalentTo"} -xref: ICD10CM:K65.8 {source="ORDO:238593/ntbt", source="Orphanet:238593"} +xref: ICD10CM:K65.8 {source="Orphanet:238593/ntbt", source="Orphanet:238593"} xref: Orphanet:238593 {source="MONDO:equivalentTo"} xref: SCTID:1092381000119100 {source="MONDO:equivalentTo"} xref: UMLS:C0025470 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238593"} @@ -324251,11 +324092,11 @@ synonym: "OT" RELATED ABBREVIATION [GARD:0008563] synonym: "pot" EXACT [Orphanet:238606] synonym: "shaky leg syndrome" RELATED [GARD:0008563] xref: GARD:0008563 {source="MONDO:equivalentTo"} -xref: ICD10CM:G25.2 {source="ORDO:238606/ntbt", source="Orphanet:238606"} -xref: MESH:C536418 {source="MONDO:equivalentTo", source="Orphanet:238606", source="ORDO:238606/e"} +xref: ICD10CM:G25.2 {source="Orphanet:238606", source="Orphanet:238606/ntbt"} +xref: MESH:C536418 {source="MONDO:equivalentTo", source="Orphanet:238606", source="Orphanet:238606/e"} xref: Orphanet:238606 {source="MONDO:equivalentTo"} xref: SCTID:715902009 {source="MONDO:equivalentTo"} -xref: UMLS:C0878578 {source="Orphanet:238606", source="MONDO:notFoundInDiseaseSubset", source="ORDO:238606/e"} +xref: UMLS:C0878578 {source="Orphanet:238606", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238606/e"} is_a: MONDO:0005395 {source="Orphanet:238606"} ! movement disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0017644"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor xsd:anyURI {source="GARD:0008563"} @@ -324264,7 +324105,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8563/primary- id: MONDO:0016547 name: Beckwith-Wiedemann syndrome due to NSD1 mutation subset: ordo_etiological_subtype {source="Orphanet:238613"} -xref: ICD10CM:Q87.3 {source="Orphanet:238613", source="ORDO:238613/attributed", source="ORDO:238613/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:238613", source="Orphanet:238613/attributed", source="Orphanet:238613/ntbt"} xref: OMIM:130650 {source="MONDO:subClassOf", source="Orphanet:238613"} xref: Orphanet:238613 {source="MONDO:equivalentTo"} xref: UMLS:CN201629 {source="MONDO:equivalentTo"} @@ -324277,17 +324118,17 @@ name: megacystis-megaureter syndrome def: "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." [Orphanet:238637] subset: ordo_disease {source="Orphanet:238637"} synonym: "megaureter-megacystis syndrome" EXACT [Orphanet:238637] -xref: ICD10CM:Q62.7 {source="Orphanet:238637", source="ORDO:238637/ntbt"} +xref: ICD10CM:Q62.7 {source="Orphanet:238637/ntbt", source="Orphanet:238637"} xref: Orphanet:238637 {source="MONDO:equivalentTo"} xref: SCTID:253904001 {source="MONDO:equivalentTo"} -xref: UMLS:C0431752 {source="Orphanet:238637", source="ORDO:238637/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0431752 {source="Orphanet:238637", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238637/e"} is_a: MONDO:0019720 {source="Orphanet:238637"} ! non-syndromic renal or urinary tract malformation [Term] id: MONDO:0016549 name: primary megaureter, adult-onset form subset: ordo_clinical_subtype {source="Orphanet:238642"} -xref: ICD10CM:Q62.2 {source="ORDO:238642/attributed", source="ORDO:238642/ntbt", source="Orphanet:238642"} +xref: ICD10CM:Q62.2 {source="Orphanet:238642/attributed", source="Orphanet:238642/ntbt", source="Orphanet:238642"} xref: Orphanet:238642 {source="MONDO:equivalentTo"} xref: UMLS:CN201632 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238642"} ! congenital primary megaureter @@ -324296,7 +324137,7 @@ is_a: MONDO:0018960 {source="Orphanet:238642"} ! congenital primary megaureter id: MONDO:0016550 name: congenital primary megaureter, obstructed form subset: ordo_clinical_subtype {source="Orphanet:238646"} -xref: ICD10CM:Q62.2 {source="Orphanet:238646", source="ORDO:238646/attributed", source="ORDO:238646/ntbt"} +xref: ICD10CM:Q62.2 {source="Orphanet:238646", source="Orphanet:238646/attributed", source="Orphanet:238646/ntbt"} xref: Orphanet:238646 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238646"} ! congenital primary megaureter relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -324306,7 +324147,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0016551 name: congenital primary megaureter, refluxing form subset: ordo_clinical_subtype {source="Orphanet:238650"} -xref: ICD10CM:Q62.2 {source="ORDO:238650/attributed", source="ORDO:238650/ntbt", source="Orphanet:238650"} +xref: ICD10CM:Q62.2 {source="Orphanet:238650/attributed", source="Orphanet:238650/ntbt", source="Orphanet:238650"} xref: Orphanet:238650 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238650"} ! congenital primary megaureter relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -324316,7 +324157,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0016552 name: congenital primary megaureter, nonrefluxing and unobstructed form subset: ordo_clinical_subtype {source="Orphanet:238654"} -xref: ICD10CM:Q62.2 {source="Orphanet:238654", source="ORDO:238654/attributed", source="ORDO:238654/ntbt"} +xref: ICD10CM:Q62.2 {source="Orphanet:238654", source="Orphanet:238654/attributed", source="Orphanet:238654/ntbt"} xref: Orphanet:238654 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238654"} ! congenital primary megaureter @@ -324327,7 +324168,7 @@ def: "A congenital hypogonadotropic hypogonadism that is not part of a larger sy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:238666"} synonym: "nonsyndromic congenital hypogonadotropic hypogonadism" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:E23.0 {source="Orphanet:238666", source="MONDO:relatedTo", source="ORDO:238666/attributed", source="ORDO:238666/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:238666", source="MONDO:relatedTo", source="Orphanet:238666/attributed", source="Orphanet:238666/ntbt"} xref: Orphanet:238666 {source="MONDO:equivalentTo"} xref: UMLS:CN924907 {source="MONDO:equivalentTo"} is_a: MONDO:0015770 {source="MONDO:Redundant", source="Orphanet:238666"} ! congenital hypogonadotropic hypogonadism @@ -324344,7 +324185,7 @@ def: "Neonatal iodine exposure is a rare endocrine disease characterized by the subset: ordo_disease {source="Orphanet:238688"} synonym: "iodine antenatal exposure" RELATED [GARD:0003025] xref: GARD:0003025 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:P72.2 {source="Orphanet:238688", source="ORDO:238688/ntbt"} +xref: ICD10CM:P72.2 {source="Orphanet:238688", source="Orphanet:238688/ntbt"} xref: Orphanet:238688 {source="MONDO:equivalentTo"} xref: UMLS:CN226956 {source="MONDO:equivalentTo"} is_a: MONDO:0016556 {source="Orphanet:238688"} ! transient congenital hypothyroidism due to neonatal factor @@ -324354,7 +324195,7 @@ id: MONDO:0016555 name: transient congenital hypothyroidism due to maternal factor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:238696"} -xref: ICD10CM:P72.2 {source="ORDO:238696/ntbt", source="Orphanet:238696"} +xref: ICD10CM:P72.2 {source="Orphanet:238696/ntbt", source="Orphanet:238696"} xref: Orphanet:238696 {source="MONDO:equivalentTo"} is_a: MONDO:0015792 {source="Orphanet:238696"} ! transient congenital hypothyroidism @@ -324363,7 +324204,7 @@ id: MONDO:0016556 name: transient congenital hypothyroidism due to neonatal factor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:238699"} -xref: ICD10CM:P72.2 {source="Orphanet:238699", source="ORDO:238699/ntbt"} +xref: ICD10CM:P72.2 {source="Orphanet:238699", source="Orphanet:238699/ntbt"} xref: Orphanet:238699 {source="MONDO:equivalentTo"} is_a: MONDO:0015792 {source="Orphanet:238699"} ! transient congenital hypothyroidism relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -324377,12 +324218,12 @@ subset: ordo_disease {source="Orphanet:2387"} synonym: "hereditary white nails" RELATED [GARD:0009759] synonym: "total leukonychia" RELATED [GARD:0009759] xref: GARD:0009759 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q84.4 {source="Orphanet:2387", source="ORDO:2387/attributed", source="ORDO:2387/ntbt"} -xref: MESH:C535889 {source="ORDO:2387/e", source="Orphanet:2387", source="MONDO:equivalentTo"} -xref: OMIM:151600 {source="MONDO:subClassOf", source="Orphanet:2387", source="ORDO:2387/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q84.4 {source="Orphanet:2387/attributed", source="Orphanet:2387/ntbt", source="Orphanet:2387"} +xref: MESH:C535889 {source="Orphanet:2387", source="MONDO:equivalentTo", source="Orphanet:2387/e"} +xref: OMIM:151600 {source="MONDO:subClassOf", source="Orphanet:2387/ntbt", source="Orphanet:2387", source="MONDO:directSiblingOf"} xref: Orphanet:2387 {source="MONDO:equivalentTo"} xref: SCTID:763792009 {source="MONDO:equivalentTo"} -xref: UMLS:C0544855 {source="ORDO:2387/e", source="Orphanet:2387", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0544855 {source="Orphanet:2387", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2387/e"} is_a: MONDO:0019284 {source="Orphanet:2387"} ! inherited isolated nail anomaly property_value: confidence "1.0227272727272725" xsd:double @@ -324403,9 +324244,9 @@ synonym: "isolated congenital controlateral synkinesia" EXACT [DOID:0111153, Orp synonym: "isolated congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722] xref: DOID:0111153 {source="MONDO:equivalentTo"} xref: GARD:0012551 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: OMIM:157600 {source="Orphanet:238722", source="MONDO:superClassOf", source="ORDO:238722/btnt"} -xref: OMIM:614508 {source="Orphanet:238722", source="MONDO:superClassOf", source="ORDO:238722/btnt"} -xref: OMIM:616059 {source="Orphanet:238722", source="MONDO:superClassOf", source="ORDO:238722/btnt"} +xref: OMIM:157600 {source="Orphanet:238722/btnt", source="Orphanet:238722", source="MONDO:superClassOf"} +xref: OMIM:614508 {source="Orphanet:238722/btnt", source="Orphanet:238722", source="MONDO:superClassOf"} +xref: OMIM:616059 {source="Orphanet:238722/btnt", source="Orphanet:238722", source="MONDO:superClassOf"} xref: OMIMPS:157600 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="MONDO:equivalentTo", source="DOID:0111153"} xref: SCTID:229247004 {source="MONDO:equivalentTo"} @@ -324422,8 +324263,8 @@ def: "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a ra subset: ordo_malformation_syndrome {source="Orphanet:238763"} synonym: "megalocornea-spherophakia-secondary glaucoma syndrome" EXACT [Orphanet:238763] xref: GARD:0010942 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q15.8 {source="ORDO:238763/attributed", source="ORDO:238763/ntbt", source="Orphanet:238763"} -xref: OMIM:251750 {source="MONDO:subClassOf", source="ORDO:238763/ntbt", source="Orphanet:238763"} +xref: ICD10CM:Q15.8 {source="Orphanet:238763/attributed", source="Orphanet:238763/ntbt", source="Orphanet:238763"} +xref: OMIM:251750 {source="MONDO:subClassOf", source="Orphanet:238763/ntbt", source="Orphanet:238763"} xref: Orphanet:238763 {source="MONDO:equivalentTo"} xref: UMLS:CN201642 {source="MONDO:equivalentTo"} is_a: MONDO:0009633 ! microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma @@ -324450,7 +324291,7 @@ synonym: "chromosome 1q44 microdeletion syndrome" RELATED [GARD:0010943] synonym: "Del(1)(q44)" EXACT [Orphanet:238769] synonym: "monosomy 1q44" EXACT [Orphanet:238769] xref: GARD:0010943 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:238769", source="ORDO:238769/attributed", source="ORDO:238769/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:238769/attributed", source="Orphanet:238769/ntbt", source="Orphanet:238769"} xref: Orphanet:238769 {source="MONDO:equivalentTo"} xref: SCTID:719649004 {source="MONDO:equivalentTo"} xref: UMLS:C4304540 {source="MONDO:equivalentTo"} @@ -324468,7 +324309,7 @@ def: "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of subset: ordo_clinical_subtype {source="Orphanet:240094"} synonym: "PSP-PAGF" EXACT [Orphanet:240094] synonym: "PSP-pure akinesia with gait freezing" EXACT [Orphanet:240094] -xref: ICD10CM:G23.1 {source="ORDO:240094/attributed", source="ORDO:240094/ntbt", source="Orphanet:240094"} +xref: ICD10CM:G23.1 {source="Orphanet:240094/attributed", source="Orphanet:240094/ntbt", source="Orphanet:240094"} xref: Orphanet:240094 {source="MONDO:equivalentTo"} xref: UMLS:CN226961 {source="MONDO:equivalentTo"} is_a: MONDO:0020488 {source="Orphanet:240094"} ! atypical progressive supranuclear palsy syndrome @@ -324480,7 +324321,7 @@ def: "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive subset: ordo_clinical_subtype {source="Orphanet:240103"} synonym: "PSP-CBS" EXACT [Orphanet:240103] synonym: "PSP-corticobasal syndrome" EXACT [Orphanet:240103] -xref: ICD10CM:G23.1 {source="ORDO:240103/attributed", source="ORDO:240103/ntbt", source="Orphanet:240103"} +xref: ICD10CM:G23.1 {source="Orphanet:240103", source="Orphanet:240103/attributed", source="Orphanet:240103/ntbt"} xref: Orphanet:240103 {source="MONDO:equivalentTo"} xref: UMLS:CN201681 {source="MONDO:equivalentTo"} is_a: MONDO:0020488 {source="Orphanet:240103"} ! atypical progressive supranuclear palsy syndrome @@ -324493,7 +324334,7 @@ subset: ordo_clinical_subtype {source="Orphanet:240112"} synonym: "progressive supranuclear palsy-apraxia of speech syndrome" EXACT [Orphanet:240112] synonym: "PSP-AOS" EXACT [Orphanet:240112] synonym: "PSP-PNFA" EXACT [Orphanet:240112] -xref: ICD10CM:G23.1 {source="ORDO:240112/attributed", source="ORDO:240112/ntbt", source="Orphanet:240112"} +xref: ICD10CM:G23.1 {source="Orphanet:240112", source="Orphanet:240112/attributed", source="Orphanet:240112/ntbt"} xref: Orphanet:240112 {source="MONDO:equivalentTo"} xref: UMLS:CN226962 {source="MONDO:equivalentTo"} is_a: MONDO:0020488 {source="Orphanet:240112"} ! atypical progressive supranuclear palsy syndrome @@ -324523,14 +324364,14 @@ synonym: "Loa loa filariasis" RELATED [GARD:0003283] xref: DOID:13523 {source="EFO:1000729", source="MONDO:equivalentTo"} xref: EFO:1000729 {source="MONDO:equivalentTo"} xref: GARD:0003283 {source="MONDO:equivalentTo"} -xref: ICD10CM:B74.3 {source="MONDO:equivalentTo", source="ORDO:2404/e", source="Orphanet:2404", source="DOID:13523"} +xref: ICD10CM:B74.3 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} xref: ICD9:125.2 {source="DOID:13523"} -xref: MedDRA:10024797 {source="ORDO:2404/e", source="Orphanet:2404"} -xref: MESH:D008118 {source="MONDO:equivalentTo", source="ORDO:2404/e", source="Orphanet:2404", source="DOID:13523"} +xref: MedDRA:10024797 {source="Orphanet:2404", source="Orphanet:2404/e"} +xref: MESH:D008118 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} xref: NCIT:C34784 {source="MONDO:equivalentTo", source="DOID:13523"} xref: Orphanet:2404 {source="MONDO:equivalentTo"} xref: SCTID:44250009 {source="MONDO:equivalentTo", source="DOID:13523"} -xref: UMLS:C0023968 {source="MONDO:equivalentTo", source="ORDO:2404/e", source="NCIT:C34784", source="Orphanet:2404", source="DOID:13523"} +xref: UMLS:C0023968 {source="MONDO:equivalentTo", source="NCIT:C34784", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} is_a: MONDO:0005135 {source="DOID:13523/inferred", source="MESH:D008118/inferred", source="MONDO:Redundant", source="NCIT:C34784", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0016075 {source="DOID:13523", source="ICD10CM:B74.3", source="MESH:D008118", source="Orphanet:2404", source="linkedlifedata"} ! filariasis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3283/loiasis xsd:anyURI {source="GARD:0003283"} @@ -324547,13 +324388,13 @@ synonym: "locked-in state" EXACT [DOID:12697, ICD9CM:344.81] xref: DOID:12697 {source="MONDO:equivalentTo"} xref: GARD:0006919 {source="MONDO:equivalentTo"} xref: ICD10CM:G83.5 {source="DOID:12697"} -xref: ICD10CM:G83.8 {source="ORDO:2406/ntbt", source="Orphanet:2406"} +xref: ICD10CM:G83.8 {source="Orphanet:2406/ntbt", source="Orphanet:2406"} xref: ICD9:344.81 {source="MONDO:equivalentTo", source="i2s", source="DOID:12697"} -xref: MedDRA:10024792 {source="ORDO:2406/e", source="Orphanet:2406"} +xref: MedDRA:10024792 {source="Orphanet:2406/e", source="Orphanet:2406"} xref: MESH:D011782 {source="MONDO:relatedTo", source="DOID:12697"} xref: Orphanet:2406 {source="MONDO:equivalentTo"} xref: SCTID:38023001 {source="MONDO:equivalentTo", source="DOID:12697"} -xref: UMLS:C0023944 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2406/e", source="Orphanet:2406", source="DOID:12697"} +xref: UMLS:C0023944 {source="Orphanet:2406/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2406", source="DOID:12697"} is_a: MONDO:0005071 {source="Orphanet:2406"} ! nervous system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome xsd:anyURI {source="GARD:0006919"} @@ -324571,7 +324412,7 @@ synonym: "deafness-nephritis-ano-rectal malformation syndrome" EXACT [Orphanet:2 synonym: "dominant ano-rectal malformation, nephritis and nerve-deafness" RELATED [GARD:0001695] synonym: "Lowe Kohn Cohen syndrome" RELATED [GARD:0001695] xref: GARD:0001695 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2408/attributed", source="ORDO:2408/ntbt", source="Orphanet:2408"} +xref: ICD10CM:Q87.8 {source="Orphanet:2408/attributed", source="Orphanet:2408/ntbt", source="Orphanet:2408"} xref: MESH:C535996 {source="MONDO:equivalentTo"} xref: OMIM:107100 {source="GARD:0001695", source="MONDO:relatedTo"} xref: Orphanet:2408 {source="MONDO:equivalentTo"} @@ -324595,10 +324436,10 @@ name: primary pulmonary lymphoma def: "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." [Orphanet:2420] comment: Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma subset: ordo_disease {source="Orphanet:2420"} -xref: MedDRA:10037418 {source="ORDO:2420/e", source="Orphanet:2420"} +xref: MedDRA:10037418 {source="Orphanet:2420", source="Orphanet:2420/e"} xref: Orphanet:2420 {source="MONDO:equivalentTo"} xref: SCTID:718200007 {source="MONDO:equivalentTo"} -xref: UMLS:C0519063 {source="ORDO:2420/e", source="Orphanet:2420", source="MONDO:equivalentTo"} +xref: UMLS:C0519063 {source="Orphanet:2420", source="MONDO:equivalentTo", source="Orphanet:2420/e"} xref: UMLS:C4273669 {source="MONDO:equivalentTo"} is_a: MONDO:0017207 {source="Orphanet:2420"} ! primary organ-specific lymphoma @@ -324621,7 +324462,7 @@ id: MONDO:0016572 name: central bilateral macrogyria def: "Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." [Orphanet:2431] subset: ordo_disease {source="Orphanet:2431"} -xref: ICD10CM:Q04.8 {source="Orphanet:2431", source="ORDO:2431/attributed", source="ORDO:2431/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:2431/attributed", source="Orphanet:2431/ntbt", source="Orphanet:2431"} xref: Orphanet:2431 {source="MONDO:equivalentTo"} xref: SCTID:720632004 {source="MONDO:equivalentTo"} xref: UMLS:C4303949 {source="MONDO:equivalentTo"} @@ -324636,12 +324477,12 @@ subset: ordo_disease {source="Orphanet:243367"} synonym: "acute fatty liver, gestational" RELATED [GARD:0009578] synonym: "AFLP" EXACT ABBREVIATION [Orphanet:243367] xref: GARD:0009578 {source="MONDO:equivalentTo"} -xref: ICD10CM:O26.6 {source="Orphanet:243367", source="ORDO:243367/ntbt"} -xref: MedDRA:10000746 {source="Orphanet:243367", source="ORDO:243367/e"} -xref: MESH:C537957 {source="Orphanet:243367", source="ORDO:243367/e", source="MONDO:equivalentTo"} +xref: ICD10CM:O26.6 {source="Orphanet:243367/ntbt", source="Orphanet:243367"} +xref: MedDRA:10000746 {source="Orphanet:243367", source="Orphanet:243367/e"} +xref: MESH:C537957 {source="Orphanet:243367", source="MONDO:equivalentTo", source="Orphanet:243367/e"} xref: Orphanet:243367 {source="MONDO:equivalentTo"} xref: SCTID:716379000 {source="MONDO:equivalentTo"} -xref: UMLS:C1455728 {source="Orphanet:243367", source="ORDO:243367/e", source="MONDO:equivalentTo"} +xref: UMLS:C1455728 {source="Orphanet:243367", source="MONDO:equivalentTo", source="Orphanet:243367/e"} is_a: MONDO:0024575 {source="Orphanet:243367"} ! pregnancy disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015582"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy xsd:anyURI {source="GARD:0009578"} @@ -324692,50 +324533,50 @@ xref: DOID:0050144 {source="MONDO:equivalentTo"} xref: DOID:9562 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0004484 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0006815 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q34.8 {source="ORDO:244/attributed", source="ORDO:244/ntbt", source="Orphanet:244"} -xref: MedDRA:10069713 {source="ORDO:244/e", source="Orphanet:244"} +xref: ICD10CM:Q34.8 {source="Orphanet:244/attributed", source="Orphanet:244/ntbt", source="Orphanet:244"} +xref: MedDRA:10069713 {source="Orphanet:244/e", source="Orphanet:244"} xref: MESH:D002925 {source="MONDO:equivalentTo", source="DOID:9562"} xref: MESH:D007619 {source="DOID:0050144", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: NCIT:C84638 {source="MONDO:otherHierarchy", source="DOID:9562"} xref: NCIT:C84797 {source="DOID:0050144", source="MONDO:equivalentTo"} -xref: OMIM:215518 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:215520 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:242670 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:242680 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:244400 {source="MONDO:superClassOf", source="ORDO:244/e"} -xref: OMIM:606763 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:608644 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:608646 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:608647 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:610852 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:611884 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:612274 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:612444 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:612518 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:612649 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:612650 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:613193 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:613807 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:613808 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:614017 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:614679 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:614874 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:614935 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615067 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615294 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615444 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615451 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615481 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615482 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615500 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615504 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615505 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:615872 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:616037 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:616481 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:616726 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:617091 {source="ORDO:244/btnt", source="MONDO:superClassOf"} -xref: OMIM:617092 {source="ORDO:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:215518 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:215520 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:242670 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:242680 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:244400 {source="Orphanet:244/e", source="MONDO:superClassOf"} +xref: OMIM:606763 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:608644 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:608646 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:608647 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:610852 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:611884 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:612274 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:612444 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:612518 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:612649 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:612650 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:613193 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:613807 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:613808 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:614017 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:614679 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:614874 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:614935 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615067 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615294 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615444 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615451 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615481 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615482 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615500 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615504 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615505 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:615872 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:616037 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:616481 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:616726 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:617091 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} +xref: OMIM:617092 {source="Orphanet:244/btnt", source="MONDO:superClassOf"} xref: OMIMPS:244400 {source="MONDO:equivalentTo", source="DOID:9562"} xref: Orphanet:244 {source="MONDO:equivalentTo", source="DOID:9562"} xref: Orphanet:98861 {source="DOID:0050144", source="GARD:0006815", source="MONDO:obsolete"} @@ -324767,19 +324608,19 @@ synonym: "split-hand deformity" EXACT [DOID:0090020] synonym: "split-hand/foot malformation" EXACT [NCIT:C75000] xref: DOID:0090020 {source="MONDO:equivalentTo"} xref: GARD:0006319 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q71.6 {source="Orphanet:2440", source="DOID:0090020", source="ORDO:2440/specific", source="ORDO:2440/btnt"} -xref: ICD10CM:Q72.7 {source="Orphanet:2440", source="ORDO:2440/specific", source="ORDO:2440/btnt"} +xref: ICD10CM:Q71.6 {source="Orphanet:2440", source="DOID:0090020", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"} +xref: ICD10CM:Q72.7 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"} xref: NCIT:C75000 {source="MONDO:equivalentTo"} -xref: OMIM:183600 {source="Orphanet:2440", source="MONDO:superClassOf", source="ORDO:2440/e"} -xref: OMIM:225300 {source="Orphanet:2440", source="MONDO:superClassOf", source="ORDO:2440/btnt"} -xref: OMIM:246560 {source="Orphanet:2440", source="MONDO:superClassOf", source="ORDO:2440/btnt"} -xref: OMIM:313350 {source="Orphanet:2440", source="MONDO:superClassOf", source="ORDO:2440/btnt"} -xref: OMIM:605289 {source="Orphanet:2440", source="MONDO:superClassOf", source="ORDO:2440/btnt"} -xref: OMIM:606708 {source="Orphanet:2440", source="MONDO:superClassOf", source="ORDO:2440/btnt"} +xref: OMIM:183600 {source="Orphanet:2440", source="MONDO:superClassOf", source="Orphanet:2440/e"} +xref: OMIM:225300 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="MONDO:superClassOf"} +xref: OMIM:246560 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="MONDO:superClassOf"} +xref: OMIM:313350 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="MONDO:superClassOf"} +xref: OMIM:605289 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="MONDO:superClassOf"} +xref: OMIM:606708 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="MONDO:superClassOf"} xref: OMIMPS:183600 {source="DOID:0090020", source="MONDO:equivalentTo"} xref: Orphanet:2440 {source="DOID:0090020", source="MONDO:equivalentTo"} xref: SCTID:81208006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265554 {source="Orphanet:2440", source="DOID:0090020", source="MONDO:equivalentTo", source="NCIT:C75000", source="ORDO:2440/e"} +xref: UMLS:C0265554 {source="Orphanet:2440", source="DOID:0090020", source="MONDO:equivalentTo", source="Orphanet:2440/e", source="NCIT:C75000"} is_a: MONDO:0017423 {source="Orphanet:2440"} ! split hand or/and split foot malformation relationship: has_modifier MONDO:0021152 {source="OMIMPS:183600"} ! inherited @@ -324789,7 +324630,7 @@ name: biliary atresia with splenic malformation syndrome def: "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." [Orphanet:244283] subset: ordo_malformation_syndrome {source="Orphanet:244283"} synonym: "BASM syndrome" EXACT [Orphanet:244283] -xref: ICD10CM:Q44.2 {source="Orphanet:244283", source="ORDO:244283/ntbt"} +xref: ICD10CM:Q44.2 {source="Orphanet:244283/ntbt", source="Orphanet:244283"} xref: Orphanet:244283 {source="MONDO:equivalentTo"} xref: SCTID:717156002 {source="MONDO:equivalentTo"} xref: UMLS:C4274029 {source="MONDO:equivalentTo"} @@ -324817,8 +324658,8 @@ consider: MONDO:0016387 id: MONDO:0016579 name: dominant hypophosphatemia with nephrolithiasis or osteoporosis subset: ordo_disease {source="Orphanet:244305"} -xref: OMIM:612286 {source="ORDO:244305/btnt", source="MONDO:superClassOf", source="Orphanet:244305"} -xref: OMIM:612287 {source="ORDO:244305/btnt", source="MONDO:superClassOf", source="Orphanet:244305"} +xref: OMIM:612286 {source="MONDO:superClassOf", source="Orphanet:244305", source="Orphanet:244305/btnt"} +xref: OMIM:612287 {source="MONDO:superClassOf", source="Orphanet:244305", source="Orphanet:244305/btnt"} xref: Orphanet:244305 {source="MONDO:equivalentTo"} xref: UMLS:CN228623 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -324840,7 +324681,7 @@ synonym: "congenital cystic disease of the lung" EXACT [Orphanet:2444] synonym: "CPAM" EXACT ABBREVIATION [Orphanet:2444] synonym: "cystic adenomatoid malformation of lung" RELATED [GARD:0006232] xref: GARD:0006232 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q33.0 {source="Orphanet:2444", source="ORDO:2444/ntbt"} +xref: ICD10CM:Q33.0 {source="Orphanet:2444/ntbt", source="Orphanet:2444"} xref: MESH:D015615 {source="MONDO:equivalentTo"} xref: NCIT:C98892 {source="MONDO:equivalentTo"} xref: Orphanet:2444 {source="MONDO:equivalentTo"} @@ -324870,12 +324711,12 @@ synonym: "Taussig-Bing syndrome or defect" EXACT [DOID:6406] synonym: "truncus arteriosus communis" RELATED [OMIM:217095] xref: GARD:0008189 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} xref: ICD9:747.11 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:217095 {source="Orphanet:2445", source="ORDO:2445/e", source="MONDO:equivalentTo"} +xref: OMIM:217095 {source="Orphanet:2445", source="MONDO:equivalentTo", source="Orphanet:2445/e"} xref: Orphanet:2445 {source="MONDO:equivalentTo"} xref: SCTID:218728005 {source="MONDO:equivalentTo"} xref: UMLS:C0041207 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:217095"} xref: UMLS:C0795907 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:217095"} -xref: UMLS:C1857586 {source="Orphanet:2445", source="NCBI:mim2gene_medline", source="ORDO:2445/e", source="MONDO:equivalentTo", source="OMIM:217095"} +xref: UMLS:C1857586 {source="Orphanet:2445", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:217095", source="Orphanet:2445/e"} is_a: MONDO:0020285 {source="Orphanet:2445"} ! transposition of the great arteries and conotruncal cardiac anomaly relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -324900,8 +324741,8 @@ synonym: "intestinal malrotation facial anomalies familial type" RELATED [GARD:0 synonym: "Stalker Chitayat syndrome" RELATED [GARD:0005000] synonym: "Stalker-Chitayat syndrome" EXACT [Orphanet:2454] xref: GARD:0005000 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q43.3 {source="Orphanet:2454", source="ORDO:2454/attributed", source="ORDO:2454/ntbt"} -xref: OMIM:193250 {source="MONDO:subClassOf", source="Orphanet:2454", source="ORDO:2454/ntbt"} +xref: ICD10CM:Q43.3 {source="Orphanet:2454", source="Orphanet:2454/attributed", source="Orphanet:2454/ntbt"} +xref: OMIM:193250 {source="MONDO:subClassOf", source="Orphanet:2454", source="Orphanet:2454/ntbt"} xref: Orphanet:2454 {source="MONDO:equivalentTo"} is_a: MONDO:0008666 ! volvulus of midgut is_a: MONDO:0015212 {source="Orphanet:2454"} ! syndromic intestinal malformation @@ -324915,12 +324756,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2457"} synonym: "MAD" EXACT ABBREVIATION [Orphanet:2457] synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056] xref: GARD:0011893 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.5 {source="ORDO:2457/attributed", source="ORDO:2457/ntbt", source="Orphanet:2457"} -xref: OMIM:248370 {source="MONDO:superClassOf", source="ORDO:2457/btnt", source="Orphanet:2457"} -xref: OMIM:608612 {source="MONDO:superClassOf", source="ORDO:2457/btnt", source="Orphanet:2457"} +xref: ICD10CM:Q87.5 {source="Orphanet:2457", source="Orphanet:2457/attributed", source="Orphanet:2457/ntbt"} +xref: OMIM:248370 {source="MONDO:superClassOf", source="Orphanet:2457", source="Orphanet:2457/btnt"} +xref: OMIM:608612 {source="MONDO:superClassOf", source="Orphanet:2457", source="Orphanet:2457/btnt"} xref: OMIMPS:248370 {source="MONDO:equivalentTo"} xref: Orphanet:2457 {source="MONDO:equivalentTo"} -xref: UMLS:C0432291 {source="ORDO:2457/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2457"} +xref: UMLS:C0432291 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2457", source="Orphanet:2457/e"} xref: UMLS:CN118835 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2457", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015333 {source="Orphanet:2457"} ! progeroid syndrome @@ -324953,16 +324794,16 @@ synonym: "systemic tissue Mast cell disease" EXACT [NCIT:C9235] synonym: "systemic tissue mast cell disease" EXACT [DOID:349] xref: DOID:349 {source="MONDO:equivalentTo"} xref: GARD:0008616 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C96.2 {source="Orphanet:2467", source="ORDO:2467/ntbt"} -xref: MedDRA:10042949 {source="Orphanet:2467", source="ORDO:2467/e"} -xref: MESH:D034721 {source="DOID:349", source="Orphanet:2467", source="ORDO:2467/e"} +xref: ICD10CM:C96.2 {source="Orphanet:2467/ntbt", source="Orphanet:2467"} +xref: MedDRA:10042949 {source="Orphanet:2467", source="Orphanet:2467/e"} +xref: MESH:D034721 {source="DOID:349", source="Orphanet:2467", source="Orphanet:2467/e"} xref: NCIT:C9235 {source="DOID:349", source="MONDO:equivalentTo"} xref: ONCOTREE:SM {source="MONDO:equivalentTo"} xref: Orphanet:2467 {source="MONDO:equivalentTo"} xref: SCTID:123310005 {source="DOID:349"} xref: SCTID:397016004 {source="DOID:349", source="MONDO:equivalentTo"} xref: SCTID:50150000 {source="DOID:349"} -xref: UMLS:C0221013 {source="DOID:349", source="NCIT:C9235", source="Orphanet:2467", source="ORDO:2467/e", source="MONDO:equivalentTo"} +xref: UMLS:C0221013 {source="DOID:349", source="NCIT:C9235", source="Orphanet:2467", source="MONDO:equivalentTo", source="Orphanet:2467/e"} is_a: MONDO:0007950 {source="DOID:349", source="NCIT:C9235", source="ONCOTREE:SM", source="Orphanet:2467"} ! mastocytosis [Term] @@ -324983,17 +324824,17 @@ synonym: "ARVD" EXACT ABBREVIATION [DOID:0050431, GARD:0005847, Orphanet:247] synonym: "right ventricular dysplasia" EXACT [NCIT:C84571] xref: DOID:0050431 {source="MONDO:equivalentTo"} xref: GARD:0005847 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.8 {source="Orphanet:247", source="ORDO:247/index", source="ORDO:247/ntbt"} +xref: ICD10CM:I42.8 {source="Orphanet:247", source="Orphanet:247/index", source="Orphanet:247/ntbt"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058093 {source="Orphanet:247", source="ORDO:247/e"} -xref: MESH:D019571 {source="Orphanet:247", source="DOID:0050431", source="MONDO:equivalentTo", source="ORDO:247/e"} +xref: MedDRA:10058093 {source="Orphanet:247", source="Orphanet:247/e"} +xref: MESH:D019571 {source="Orphanet:247", source="DOID:0050431", source="MONDO:equivalentTo", source="Orphanet:247/e"} xref: NCIT:C84571 {source="DOID:0050431", source="MONDO:equivalentTo"} xref: OMIM:604401 {source="GARD:0005847", source="MONDO:superClassOf"} xref: Orphanet:217656 {source="DOID:0050431", source="MONDO:superClassOf"} xref: Orphanet:247 {source="DOID:0050431", source="MONDO:equivalentTo"} xref: SCTID:253528005 {source="DOID:0050431"} xref: SCTID:281170005 {source="DOID:0050431", source="MONDO:equivalentTo"} -xref: UMLS:C0349788 {source="Orphanet:247", source="DOID:0050431", source="GARD:0005847", source="MONDO:equivalentTo", source="NCIT:C84571", source="ORDO:247/e"} +xref: UMLS:C0349788 {source="Orphanet:247", source="DOID:0050431", source="GARD:0005847", source="MONDO:equivalentTo", source="Orphanet:247/e", source="NCIT:C84571"} xref: UMLS:CN221565 {source="MONDO:equivalentTo"} xref: UMLS:CN239850 {source="MONDO:equivalentTo"} is_a: MONDO:0000591 {source="DOID:0050431", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy @@ -325012,7 +324853,7 @@ synonym: "infantile mercury intoxication" EXACT [Orphanet:247165] synonym: "pink disease" EXACT [Orphanet:247165] synonym: "Swift disease" EXACT [Orphanet:247165] synonym: "Swift-Feer disease" EXACT [Orphanet:247165] -xref: ICD10CM:T56.1 {source="Orphanet:247165", source="ORDO:247165/ntbt"} +xref: ICD10CM:T56.1 {source="Orphanet:247165/ntbt", source="Orphanet:247165"} xref: MESH:D000170 {source="MONDO:equivalentTo"} xref: Orphanet:247165 {source="MONDO:equivalentTo"} xref: SCTID:66695004 {source="MONDO:equivalentTo"} @@ -325027,7 +324868,7 @@ id: MONDO:0016589 name: progressive cerebello-cerebral atrophy subset: ordo_disease {source="Orphanet:247198"} synonym: "PCCA" EXACT ABBREVIATION [Orphanet:247198] -xref: OMIM:615851 {source="MONDO:superClassOf", source="Orphanet:247198", source="ORDO:247198/btnt"} +xref: OMIM:615851 {source="MONDO:superClassOf", source="Orphanet:247198/btnt", source="Orphanet:247198"} xref: Orphanet:247198 {source="MONDO:equivalentTo"} is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:247198", source="Orphanet:247198/inferred"} ! genetic nervous system disorder is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:247198", source="Orphanet:247198/inferred"} ! disorder of development or morphogenesis @@ -325085,7 +324926,7 @@ synonym: "superficial hemosiderosis of the CNS" EXACT [Orphanet:247245] synonym: "superficial siderosis of the central nervous system" EXACT [Orphanet:247245] synonym: "superficial siderosis of the CNS" EXACT [Orphanet:247245] xref: GARD:0009484 {source="MONDO:equivalentTo"} -xref: ICD10CM:I69.0 {source="Orphanet:247245", source="ORDO:247245/ntbt"} +xref: ICD10CM:I69.0 {source="Orphanet:247245", source="Orphanet:247245/ntbt"} xref: Orphanet:247245 {source="MONDO:equivalentTo"} is_a: MONDO:0005559 {source="https://orcid.org/0000-0002-0736-9199"} ! neurodegenerative disease relationship: excluded_subClassOf MONDO:0016593 {source="Orphanet:247245"} ! acquired ataxia @@ -325103,13 +324944,13 @@ synonym: "respiratory anthrax disease" EXACT [Orphanet:247257] synonym: "wool-sorters' disease" EXACT [DOID:0050160] synonym: "woolsorters' disease" EXACT [DOID:0050160] xref: DOID:0050160 {source="MONDO:equivalentTo"} -xref: ICD10CM:A22.1 {source="Orphanet:247257", source="ORDO:247257/ntbt"} +xref: ICD10CM:A22.1 {source="Orphanet:247257", source="Orphanet:247257/ntbt"} xref: ICD9:022.1 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10035667 {source="Orphanet:247257", source="ORDO:247257/e"} +xref: MedDRA:10035667 {source="Orphanet:247257", source="Orphanet:247257/e"} xref: MESH:C571912 {source="MONDO:equivalentTo"} xref: Orphanet:247257 {source="MONDO:equivalentTo"} xref: SCTID:11389007 {source="MONDO:equivalentTo"} -xref: UMLS:C0155866 {source="Orphanet:247257", source="ORDO:247257/e", source="MONDO:equivalentTo"} +xref: UMLS:C0155866 {source="Orphanet:247257", source="MONDO:equivalentTo", source="Orphanet:247257/e"} is_a: MONDO:0005113 {source="MONDO:Entailed", source="Orphanet:247257"} ! bacterial infectious disease is_a: MONDO:0005119 {source="DOID:0050160", source="MESH:C571912", source="linkedlifedata"} ! anthrax infection relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare @@ -325122,12 +324963,12 @@ synonym: "HPMR" EXACT ABBREVIATION [Orphanet:247262] synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [OMIMPS:239300] synonym: "hyperphosphatasia with mental retardation syndrome" EXACT DEPRECATED [OMIMPS:239300] synonym: "Mabry syndrome" EXACT [Orphanet:247262] -xref: OMIM:239300 {source="ORDO:247262/btnt", source="MONDO:superClassOf", source="Orphanet:247262"} -xref: OMIM:614207 {source="ORDO:247262/btnt", source="MONDO:superClassOf", source="Orphanet:247262"} -xref: OMIM:614749 {source="ORDO:247262/btnt", source="MONDO:superClassOf", source="Orphanet:247262"} -xref: OMIM:615716 {source="ORDO:247262/btnt", source="MONDO:superClassOf", source="Orphanet:247262"} -xref: OMIM:616025 {source="ORDO:247262/btnt", source="MONDO:superClassOf", source="Orphanet:247262"} -xref: OMIM:616809 {source="ORDO:247262/btnt", source="MONDO:superClassOf", source="Orphanet:247262"} +xref: OMIM:239300 {source="MONDO:superClassOf", source="Orphanet:247262", source="Orphanet:247262/btnt"} +xref: OMIM:614207 {source="MONDO:superClassOf", source="Orphanet:247262", source="Orphanet:247262/btnt"} +xref: OMIM:614749 {source="MONDO:superClassOf", source="Orphanet:247262", source="Orphanet:247262/btnt"} +xref: OMIM:615716 {source="MONDO:superClassOf", source="Orphanet:247262", source="Orphanet:247262/btnt"} +xref: OMIM:616025 {source="MONDO:superClassOf", source="Orphanet:247262", source="Orphanet:247262/btnt"} +xref: OMIM:616809 {source="MONDO:superClassOf", source="Orphanet:247262", source="Orphanet:247262/btnt"} xref: OMIMPS:239300 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:equivalentTo"} xref: SCTID:33982008 {source="MONDO:equivalentTo"} @@ -325155,7 +324996,7 @@ subset: ordo_disease {source="Orphanet:247378"} synonym: "autosomal recessive secondary erythrocytosis not associated with VHL gene" EXACT [Orphanet:247378] synonym: "autosomal recessive secondary erythrocytosis, non-Chuvash type" EXACT [Orphanet:247378] synonym: "autosomal recessive secondary polycythemia, non-Chuvash type" EXACT [Orphanet:247378] -xref: ICD10CM:D75.1 {source="Orphanet:247378", source="ORDO:247378/attributed", source="ORDO:247378/ntbt"} +xref: ICD10CM:D75.1 {source="Orphanet:247378", source="Orphanet:247378/attributed", source="Orphanet:247378/ntbt"} xref: Orphanet:247378 {source="MONDO:equivalentTo"} xref: UMLS:CN226972 {source="MONDO:equivalentTo"} is_a: MONDO:0016540 {source="Orphanet:247378"} ! congenital secondary polycythemia @@ -325167,9 +325008,9 @@ def: "Autosomal dominant form of secondary polycythemia." [MONDO:patterns/autoso subset: ordo_disease {source="Orphanet:247511"} synonym: "autosomal dominant secondary erythrocytosis" EXACT [Orphanet:247511] synonym: "secondary polycythemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:D75.1 {source="Orphanet:247511", source="ORDO:247511/attributed", source="ORDO:247511/ntbt"} -xref: OMIM:609820 {source="Orphanet:247511", source="MONDO:superClassOf", source="ORDO:247511/btnt"} -xref: OMIM:611783 {source="Orphanet:247511", source="MONDO:superClassOf", source="ORDO:247511/btnt"} +xref: ICD10CM:D75.1 {source="Orphanet:247511/attributed", source="Orphanet:247511/ntbt", source="Orphanet:247511"} +xref: OMIM:609820 {source="Orphanet:247511/btnt", source="Orphanet:247511", source="MONDO:superClassOf"} +xref: OMIM:611783 {source="Orphanet:247511/btnt", source="Orphanet:247511", source="MONDO:superClassOf"} xref: Orphanet:247511 {source="MONDO:equivalentTo"} xref: UMLS:CN201790 {source="MONDO:equivalentTo"} is_a: MONDO:0016540 {source="Orphanet:247511"} ! congenital secondary polycythemia @@ -325184,7 +325025,7 @@ subset: ordo_clinical_subtype {source="Orphanet:247546"} synonym: "acute neonatal citrullinemia type 1" EXACT [Orphanet:247546] synonym: "classic citrullinemia type 1" EXACT [Orphanet:247546] synonym: "classic citrullinemia type I" EXACT [Orphanet:247546] -xref: ICD10CM:E72.2 {source="Orphanet:247546", source="ORDO:247546/attributed", source="ORDO:247546/ntbt"} +xref: ICD10CM:E72.2 {source="Orphanet:247546/attributed", source="Orphanet:247546/ntbt", source="Orphanet:247546"} xref: Orphanet:247546 {source="MONDO:equivalentTo"} xref: UMLS:CN201793 {source="MONDO:equivalentTo"} is_a: MONDO:0008988 {source="Orphanet:247546"} ! citrullinemia type I @@ -325200,7 +325041,7 @@ subset: ordo_clinical_subtype {source="Orphanet:247573"} synonym: "adult-onset citrullinemia type 1" EXACT [Orphanet:247573] synonym: "late-onset citrullinemia type 1" EXACT [Orphanet:247573] synonym: "late-onset citrullinemia type I" EXACT [Orphanet:247573] -xref: ICD10CM:E72.2 {source="ORDO:247573/attributed", source="ORDO:247573/ntbt", source="Orphanet:247573"} +xref: ICD10CM:E72.2 {source="Orphanet:247573/attributed", source="Orphanet:247573/ntbt", source="Orphanet:247573"} xref: Orphanet:247573 {source="MONDO:equivalentTo"} xref: UMLS:CN201794 {source="MONDO:equivalentTo"} is_a: MONDO:0008988 {source="Orphanet:247573"} ! citrullinemia type I @@ -325214,11 +325055,11 @@ def: "Citrin deficiency is a rare autosomal recessive urea cycle defect characte subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:247582"} synonym: "citrin deficiency" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:E72.2 {source="ORDO:247582/attributed", source="ORDO:247582/ntbt", source="Orphanet:247582"} +xref: ICD10CM:E72.2 {source="Orphanet:247582/attributed", source="Orphanet:247582/ntbt", source="Orphanet:247582"} xref: Orphanet:247582 {source="MONDO:equivalentTo"} xref: SCTID:429735007 {source="MONDO:equivalentTo"} xref: UMLS:C1863844 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:247582"} -xref: UMLS:C1997910 {source="MONDO:equivalentTo", source="ORDO:247582/e", source="Orphanet:247582"} +xref: UMLS:C1997910 {source="Orphanet:247582/e", source="MONDO:equivalentTo", source="Orphanet:247582"} is_a: MONDO:0015991 {source="Orphanet:247582"} ! citrullinemia [Term] @@ -325233,9 +325074,9 @@ synonym: "citrullinemia type 2" EXACT [Orphanet:247585] synonym: "citrullinemia type II" EXACT CLINGEN_PREFERRED [NCIT:C150603] synonym: "CTLN2" EXACT ABBREVIATION [NCIT:C150603, Orphanet:247585] xref: DOID:0070342 {source="MONDO:superClassOf"} -xref: ICD10CM:E72.2 {source="ORDO:247585/attributed", source="ORDO:247585/ntbt", source="Orphanet:247585"} +xref: ICD10CM:E72.2 {source="Orphanet:247585/attributed", source="Orphanet:247585/ntbt", source="Orphanet:247585"} xref: NCIT:C150603 {source="MONDO:equivalentTo"} -xref: OMIM:603471 {source="MONDO:superClassOf", source="Orphanet:247585", source="ORDO:247585/e"} +xref: OMIM:603471 {source="Orphanet:247585/e", source="MONDO:superClassOf", source="Orphanet:247585"} xref: Orphanet:247585 {source="MONDO:equivalentTo"} xref: SCTID:716863007 {source="MONDO:equivalentTo"} xref: UMLS:C1863844 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:247585"} @@ -325249,7 +325090,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2476"} synonym: "dysraphism, cleft lip/palate, limb reduction defects" RELATED [GARD:0003438] synonym: "Medeira-Dennis-Donnai syndrome" EXACT [Orphanet:2476] xref: GARD:0003438 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q00.0 {source="Orphanet:2476", source="ORDO:2476/attributed", source="ORDO:2476/btnt"} +xref: ICD10CM:Q00.0 {source="Orphanet:2476", source="Orphanet:2476/attributed", source="Orphanet:2476/btnt"} xref: Orphanet:2476 {source="MONDO:equivalentTo"} xref: UMLS:CN201798 {source="MONDO:equivalentTo"} is_a: MONDO:0015335 {source="Orphanet:2476"} ! orofacial clefting syndrome @@ -325261,8 +325102,8 @@ def: "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly i subset: ordo_clinical_subtype {source="Orphanet:247623"} synonym: "perinatal lethal phosphoethanolaminuria" EXACT [Orphanet:247623] synonym: "perinatal lethal Rathburn disease" EXACT [Orphanet:247623] -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247623", source="ORDO:247623/attributed", source="ORDO:247623/ntbt"} -xref: OMIM:241500 {source="MONDO:subClassOf", source="Orphanet:247623", source="ORDO:247623/ntbt"} +xref: ICD10CM:E83.3 {source="Orphanet:247623/attributed", source="Orphanet:247623/ntbt", source="MONDO:relatedTo", source="Orphanet:247623"} +xref: OMIM:241500 {source="MONDO:subClassOf", source="Orphanet:247623/ntbt", source="Orphanet:247623"} xref: Orphanet:247623 {source="MONDO:equivalentTo"} xref: UMLS:C2673477 {source="Orphanet:247623", source="MONDO:equivalentTo"} is_a: MONDO:0018570 ! hypophosphatasia @@ -325275,7 +325116,7 @@ def: "OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of subset: ordo_clinical_subtype {source="Orphanet:247638"} synonym: "prenatal benign phosphoethanolaminuria" EXACT [Orphanet:247638] synonym: "prenatal benign Rathburn disease" EXACT [Orphanet:247638] -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="ORDO:247638/attributed", source="ORDO:247638/ntbt", source="Orphanet:247638"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247638", source="Orphanet:247638/attributed", source="Orphanet:247638/ntbt"} xref: Orphanet:247638 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN201801 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 "out of scope" xsd:string @@ -325290,9 +325131,9 @@ id: MONDO:0016607 name: odontohypophosphatasia def: "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." [Orphanet:247685] subset: ordo_clinical_subtype {source="Orphanet:247685"} -xref: ICD10CM:E83.3 {source="Orphanet:247685", source="MONDO:relatedTo", source="ORDO:247685/attributed", source="ORDO:247685/ntbt"} +xref: ICD10CM:E83.3 {source="Orphanet:247685", source="MONDO:relatedTo", source="Orphanet:247685/attributed", source="Orphanet:247685/ntbt"} xref: NCIT:C131309 {source="MONDO:equivalentTo"} -xref: OMIM:146300 {source="MONDO:subClassOf", source="Orphanet:247685", source="ORDO:247685/ntbt"} +xref: OMIM:146300 {source="MONDO:subClassOf", source="Orphanet:247685", source="Orphanet:247685/ntbt"} xref: Orphanet:247685 {source="MONDO:equivalentTo"} xref: SCTID:708672004 {source="MONDO:equivalentTo"} xref: UMLS:C1840322 {source="Orphanet:247685", source="NCIT:C131309", source="MONDO:equivalentTo"} @@ -325309,16 +325150,16 @@ synonym: "macroencephaly" EXACT [Orphanet:2477] synonym: "megalencephaly" EXACT [MONDO:ambiguous] synonym: "megalencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001355 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q04.5 {source="ORDO:2477/e", source="Orphanet:2477"} +xref: ICD10CM:Q04.5 {source="Orphanet:2477", source="Orphanet:2477/e"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050183 {source="ORDO:2477/e", source="Orphanet:2477"} +xref: MedDRA:10050183 {source="Orphanet:2477", source="Orphanet:2477/e"} xref: MESH:D058627 {source="MONDO:equivalentTo"} -xref: OMIM:155350 {source="Orphanet:2477", source="MONDO:superClassOf", source="ORDO:2477/btnt"} -xref: OMIM:248000 {source="Orphanet:2477", source="MONDO:superClassOf", source="ORDO:2477/btnt"} +xref: OMIM:155350 {source="Orphanet:2477/btnt", source="Orphanet:2477", source="MONDO:superClassOf"} +xref: OMIM:248000 {source="Orphanet:2477/btnt", source="Orphanet:2477", source="MONDO:superClassOf"} xref: Orphanet:2477 {source="MONDO:equivalentTo"} xref: SCTID:9740002 {source="MONDO:equivalentTo"} -xref: UMLS:C0221355 {source="ORDO:2477/e", source="Orphanet:2477", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2720434 {source="ORDO:2477/e", source="Orphanet:2477", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0221355 {source="Orphanet:2477", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2477/e"} +xref: UMLS:C2720434 {source="Orphanet:2477", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2477/e"} is_a: MONDO:0016054 {source="Orphanet:2477"} ! cerebral malformation property_value: IAO:0000589 "megalencephaly (disease)" xsd:string @@ -325328,7 +325169,7 @@ name: inflammatory myopathy with abundant macrophages def: "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." [Orphanet:247718] subset: ordo_disease {source="Orphanet:247718"} synonym: "imam" EXACT [Orphanet:247718] -xref: ICD10CM:G72.4 {source="ORDO:247718/ntbt", source="Orphanet:247718"} +xref: ICD10CM:G72.4 {source="Orphanet:247718", source="Orphanet:247718/ntbt"} xref: Orphanet:247718 {source="MONDO:equivalentTo"} xref: SCTID:766706007 {source="MONDO:equivalentTo"} xref: UMLS:CN201809 {source="MONDO:equivalentTo"} @@ -325339,7 +325180,7 @@ id: MONDO:0016610 name: idiopathic eosinophilic myositis subset: ordo_disease {source="Orphanet:247724"} synonym: "idiopathic eosinophilia-associated myopathy" EXACT [Orphanet:247724] -xref: ICD10CM:M60.8 {source="ORDO:247724/ntbt", source="Orphanet:247724"} +xref: ICD10CM:M60.8 {source="Orphanet:247724", source="Orphanet:247724/ntbt"} xref: Orphanet:247724 {source="MONDO:equivalentTo"} is_a: MONDO:0020122 {source="Orphanet:247724"} ! acquired idiopathic inflammatory myopathy @@ -325357,7 +325198,7 @@ xref: MESH:D062689 {source="MONDO:equivalentTo"} xref: NCIT:C27483 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:247762 {source="MONDO:equivalentTo"} xref: SCTID:400102008 {source="GARD:0012015", source="MONDO:equivalentTo"} -xref: UMLS:C1260965 {source="NCIT:C27483", source="Orphanet:247762", source="MONDO:equivalentTo", source="ORDO:247762/e"} +xref: UMLS:C1260965 {source="NCIT:C27483", source="Orphanet:247762", source="MONDO:equivalentTo", source="Orphanet:247762/e"} is_a: MONDO:0006424 {source="Orphanet:247762"} ! soft tissue neoplasm is_a: MONDO:0044983 {source="NCIT:C27483"} ! benign lipomatous neoplasm relationship: has_modifier MONDO:0021136 {source="MONDO:0019099"} ! rare @@ -325373,7 +325214,7 @@ synonym: "cerebellar ataxia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "hereditary ataxia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked hereditary ataxia" EXACT [MONDO:patterns/x_linked] xref: DOID:0050953 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="Orphanet:247765", source="ORDO:247765/inclusion", source="ORDO:247765/ntbt"} +xref: ICD10CM:G11.1 {source="Orphanet:247765/inclusion", source="Orphanet:247765", source="Orphanet:247765/ntbt"} xref: Orphanet:247765 {source="MONDO:equivalentTo"} is_a: MONDO:0100309 ! hereditary ataxia intersection_of: MONDO:0000437 ! cerebellar ataxia @@ -325388,8 +325229,8 @@ synonym: "APC-related AFAP" EXACT [Orphanet:247806] synonym: "APC-related attenuated familial adenomatous polyposis" EXACT CLINGEN_PREFERRED [] synonym: "APC-related attenuated familial polyposis coli" EXACT [Orphanet:247806] synonym: "APC-related attenuated FAP" EXACT [Orphanet:247806] -xref: ICD10CM:D12.6 {source="ORDO:247806/attributed", source="ORDO:247806/ntbt", source="Orphanet:247806"} -xref: OMIM:175100 {source="MONDO:subClassOf", source="ORDO:247806/ntbt", source="Orphanet:247806", source="MONDO:directSiblingOf"} +xref: ICD10CM:D12.6 {source="Orphanet:247806", source="Orphanet:247806/attributed", source="Orphanet:247806/ntbt"} +xref: OMIM:175100 {source="MONDO:subClassOf", source="Orphanet:247806", source="Orphanet:247806/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:247806 {source="MONDO:equivalentTo"} xref: UMLS:CN201818 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:247806"} ! attenuated familial adenomatous polyposis @@ -325400,7 +325241,7 @@ name: autosomal recessive ataxia due to PEX10 deficiency comment: Editor note: TODO add gene subset: ordo_disease {source="Orphanet:247815"} synonym: "mild peroxismal disorder due to PEX10 deficiency" EXACT [Orphanet:247815] -xref: ICD10CM:G11.8 {source="ORDO:247815/attributed", source="ORDO:247815/ntbt", source="Orphanet:247815"} +xref: ICD10CM:G11.8 {source="Orphanet:247815", source="Orphanet:247815/attributed", source="Orphanet:247815/ntbt"} xref: Orphanet:247815 {source="MONDO:equivalentTo"} xref: UMLS:CN201819 {source="MONDO:equivalentTo"} is_a: MONDO:0020044 {source="Orphanet:247815"} ! autosomal recessive metabolic cerebellar ataxia @@ -325411,7 +325252,7 @@ name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies subset: ordo_etiological_subtype {source="Orphanet:247839"} synonym: "oligoarticular JIA with anti-nuclear antibodies" EXACT [Orphanet:247839] synonym: "pauciarticular chronic arthritis with anti-nuclear antibodies" EXACT [Orphanet:247839] -xref: ICD10CM:M08.4 {source="ORDO:247839/ntbt", source="MONDO:relatedTo", source="Orphanet:247839"} +xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:247839", source="Orphanet:247839/ntbt"} xref: Orphanet:247839 {source="MONDO:equivalentTo"} xref: UMLS:CN201823 {source="MONDO:equivalentTo"} is_a: MONDO:0019433 {source="Orphanet:247839"} ! oligoarticular juvenile idiopathic arthritis @@ -325422,7 +325263,7 @@ name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodi subset: ordo_etiological_subtype {source="Orphanet:247846"} synonym: "oligoarticular JIA without anti-nuclear antibodies" EXACT [Orphanet:247846] synonym: "pauciarticular chronic arthritis without anti-nuclear antibodies" EXACT [Orphanet:247846] -xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="ORDO:247846/ntbt", source="Orphanet:247846"} +xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:247846", source="Orphanet:247846/ntbt"} xref: Orphanet:247846 {source="MONDO:equivalentTo"} xref: UMLS:CN201824 {source="MONDO:equivalentTo"} is_a: MONDO:0019433 {source="Orphanet:247846"} ! oligoarticular juvenile idiopathic arthritis @@ -325434,7 +325275,7 @@ subset: ordo_etiological_subtype {source="Orphanet:247854"} synonym: "juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies" EXACT [Orphanet:247854] synonym: "polyarthritis without rheumatoid factor with anti-nuclear antibodies" EXACT [Orphanet:247854] synonym: "rheumatoid factor-negative JIA with anti-nuclear antibodies" EXACT [Orphanet:247854] -xref: ICD10CM:M08.3 {source="Orphanet:247854", source="ORDO:247854/ntbt"} +xref: ICD10CM:M08.3 {source="Orphanet:247854/ntbt", source="Orphanet:247854"} xref: Orphanet:247854 {source="MONDO:equivalentTo"} is_a: MONDO:0019432 {source="Orphanet:247854"} ! rheumatoid factor-negative juvenile idiopathic arthritis disjoint_from: MONDO:0016618 ! rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies @@ -325446,7 +325287,7 @@ subset: ordo_etiological_subtype {source="Orphanet:247861"} synonym: "juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies" EXACT [Orphanet:247861] synonym: "polyarthritis without rheumatoid factor without anti-nuclear antibodies" EXACT [Orphanet:247861] synonym: "rheumatoid factor-negative JIA without anti-nuclear antibodies" EXACT [Orphanet:247861] -xref: ICD10CM:M08.3 {source="Orphanet:247861", source="ORDO:247861/ntbt"} +xref: ICD10CM:M08.3 {source="Orphanet:247861", source="Orphanet:247861/ntbt"} xref: Orphanet:247861 {source="MONDO:equivalentTo"} is_a: MONDO:0019432 {source="Orphanet:247861"} ! rheumatoid factor-negative juvenile idiopathic arthritis @@ -325462,14 +325303,14 @@ synonym: "autosomal recessive anhidrotic ectodermal dysplasia" EXACT [Orphanet:2 synonym: "hypohidrotic ectodermal dysplasia autosomal recessive" RELATED [GARD:0002057] synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: GARD:0002057 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.4 {source="Orphanet:248", source="ORDO:248/attributed", source="ORDO:248/ntbt"} -xref: MESH:D053360 {source="Orphanet:248", source="MONDO:equivalentTo", source="ORDO:248/e"} +xref: ICD10CM:Q82.4 {source="Orphanet:248/attributed", source="Orphanet:248/ntbt", source="Orphanet:248"} +xref: MESH:D053360 {source="Orphanet:248", source="MONDO:equivalentTo", source="Orphanet:248/e"} xref: NCIT:C84580 {source="MONDO:equivalentTo"} -xref: OMIM:224900 {source="Orphanet:248", source="MONDO:superClassOf", source="ORDO:248/btnt"} -xref: OMIM:614941 {source="Orphanet:248", source="MONDO:superClassOf", source="ORDO:248/btnt"} +xref: OMIM:224900 {source="Orphanet:248/btnt", source="Orphanet:248", source="MONDO:superClassOf"} +xref: OMIM:614941 {source="Orphanet:248/btnt", source="Orphanet:248", source="MONDO:superClassOf"} xref: Orphanet:248 {source="MONDO:equivalentTo"} xref: SCTID:27025001 {source="MONDO:equivalentTo"} -xref: UMLS:C0406702 {source="Orphanet:248", source="MONDO:equivalentTo", source="NCIT:C84580", source="ORDO:248/e"} +xref: UMLS:C0406702 {source="Orphanet:248", source="MONDO:equivalentTo", source="NCIT:C84580", source="Orphanet:248/e"} is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:248"} ! hypohidrotic ectodermal dysplasia intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -325498,13 +325339,13 @@ synonym: "Touraine Solente Gole syndrome" EXACT [GARD:0007299] synonym: "Touraine-Solente-Gole syndrome" EXACT [Orphanet:2796] xref: DOID:14283 {source="MONDO:equivalentTo"} xref: GARD:0007299 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M89.4 {source="DOID:14283", source="ORDO:248095/attributed", source="ORDO:248095/ntbt", source="Orphanet:2796", source="ORDO:2796/ntbt", source="Orphanet:248095", source="ORDO:2796/inclusion"} -xref: MedDRA:10051686 {source="ORDO:2796/e", source="Orphanet:2796"} -xref: MESH:D010004 {source="DOID:14283", source="MONDO:equivalentTo", source="ORDO:248095/e", source="Orphanet:248095"} +xref: ICD10CM:M89.4 {source="Orphanet:2796/inclusion", source="Orphanet:2796/ntbt", source="DOID:14283", source="Orphanet:2796", source="Orphanet:248095", source="Orphanet:248095/attributed", source="Orphanet:248095/ntbt"} +xref: MedDRA:10051686 {source="Orphanet:2796", source="Orphanet:2796/e"} +xref: MESH:D010004 {source="DOID:14283", source="MONDO:equivalentTo", source="Orphanet:248095", source="Orphanet:248095/e"} xref: NCIT:C85023 {source="DOID:14283", source="MONDO:equivalentTo"} -xref: OMIM:167100 {source="Orphanet:2796", source="MONDO:superClassOf", source="ORDO:2796/btnt"} -xref: OMIM:259100 {source="ORDO:2796/e", source="DOID:14283", source="Orphanet:2796", source="MONDO:superClassOf"} -xref: OMIM:614441 {source="Orphanet:2796", source="MONDO:superClassOf", source="ORDO:2796/btnt"} +xref: OMIM:167100 {source="Orphanet:2796/btnt", source="Orphanet:2796", source="MONDO:superClassOf"} +xref: OMIM:259100 {source="DOID:14283", source="Orphanet:2796", source="MONDO:superClassOf", source="Orphanet:2796/e"} +xref: OMIM:614441 {source="Orphanet:2796/btnt", source="Orphanet:2796", source="MONDO:superClassOf"} xref: OMIMPS:259100 {source="MONDO:equivalentTo"} xref: Orphanet:1525 {source="OMIM:259100", source="MONDO:superClassOf"} xref: Orphanet:248095 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -325513,7 +325354,7 @@ xref: SCTID:201124000 {source="DOID:14283"} xref: SCTID:223726008 {source="DOID:14283"} xref: SCTID:239052008 {source="DOID:14283"} xref: SCTID:88220006 {source="DOID:14283", source="MONDO:equivalentTo"} -xref: UMLS:C0029411 {source="DOID:14283", source="MONDO:equivalentTo", source="ORDO:248095/e", source="MONDO:preferredExternal", source="Orphanet:248095", source="NCIT:C85023"} +xref: UMLS:C0029411 {source="DOID:14283", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:248095", source="NCIT:C85023", source="Orphanet:248095/e"} xref: UMLS:C2678439 {source="OMIM:259100", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN202658 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:14283"} ! syndromic disease @@ -325534,12 +325375,12 @@ synonym: "JHD" EXACT ABBREVIATION [Orphanet:248111] synonym: "juvenile Huntington chorea" EXACT [Orphanet:248111] synonym: "juvenile onset HD" RELATED [GARD:0010510] xref: GARD:0010510 {source="MONDO:equivalentTo"} -xref: ICD10CM:G10 {source="Orphanet:248111", source="ORDO:248111/attributed", source="ORDO:248111/ntbt"} +xref: ICD10CM:G10 {source="Orphanet:248111/attributed", source="Orphanet:248111/ntbt", source="Orphanet:248111"} xref: NCIT:C147072 {source="MONDO:equivalentTo"} -xref: OMIM:143100 {source="MONDO:subClassOf", source="Orphanet:248111", source="ORDO:248111/ntbt"} +xref: OMIM:143100 {source="MONDO:subClassOf", source="Orphanet:248111/ntbt", source="Orphanet:248111"} xref: Orphanet:248111 {source="MONDO:equivalentTo"} xref: SCTID:230299004 {source="MONDO:equivalentTo"} -xref: UMLS:C0751208 {source="MONDO:equivalentTo", source="Orphanet:248111", source="ORDO:248111/e"} +xref: UMLS:C0751208 {source="Orphanet:248111/e", source="MONDO:equivalentTo", source="Orphanet:248111"} is_a: MONDO:0007739 {source="NCIT:C147072", source="linkedlifedata"} ! Huntington disease property_value: confidence "3.75" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease xsd:anyURI {source="GARD:0010510"} @@ -325554,11 +325395,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2482"} synonym: "fifteen dorsal vertebrae and rib pairs" RELATED [GARD:0003462] synonym: "Melhem Fahl syndrome" RELATED [GARD:0003462] xref: GARD:0003462 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q76.4 {source="ORDO:2482/attributed", source="ORDO:2482/ntbt", source="Orphanet:2482"} -xref: MESH:C537238 {source="MONDO:equivalentTo", source="ORDO:2482/e", source="Orphanet:2482"} +xref: ICD10CM:Q76.4 {source="Orphanet:2482/attributed", source="Orphanet:2482/ntbt", source="Orphanet:2482"} +xref: MESH:C537238 {source="Orphanet:2482/e", source="MONDO:equivalentTo", source="Orphanet:2482"} xref: Orphanet:2482 {source="MONDO:equivalentTo"} xref: SCTID:732263008 {source="MONDO:equivalentTo"} -xref: UMLS:C2931453 {source="MONDO:equivalentTo", source="ORDO:2482/e", source="Orphanet:2482"} +xref: UMLS:C2931453 {source="Orphanet:2482/e", source="MONDO:equivalentTo", source="Orphanet:2482"} is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome xsd:anyURI {source="GARD:0003462"} @@ -325609,7 +325450,7 @@ name: hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficienc comment: Reason: out of scope. Obsoleted in Orphanet. Term to consider: None subset: obsoletion_candidate subset: ordo_disease {source="Orphanet:248305"} -xref: ICD10CM:D55.2 {source="Orphanet:248305", source="ORDO:248305/attributed", source="ORDO:248305/ntbt"} +xref: ICD10CM:D55.2 {source="Orphanet:248305/attributed", source="Orphanet:248305/ntbt", source="Orphanet:248305"} xref: Orphanet:248305 {source="MONDO:equivalentTo"} is_a: MONDO:0003664 {source="Orphanet:248305"} ! hemolytic anemia relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4398 @@ -325672,7 +325513,7 @@ subset: ordo_disease {source="Orphanet:248340"} synonym: "isolated delta-SPD" EXACT [Orphanet:248340] synonym: "isolated dense-SPD" EXACT [Orphanet:248340] synonym: "isolated dense-storage pool disease" EXACT [Orphanet:248340] -xref: ICD10CM:D69.1 {source="ORDO:248340/attributed", source="ORDO:248340/ntbt", source="Orphanet:248340"} +xref: ICD10CM:D69.1 {source="Orphanet:248340", source="Orphanet:248340/attributed", source="Orphanet:248340/ntbt"} xref: Orphanet:248340 {source="MONDO:equivalentTo"} xref: UMLS:CN201837 {source="MONDO:equivalentTo"} is_a: MONDO:0018796 {source="Orphanet:248340"} ! isolated constitutional thrombocytopenia @@ -325780,8 +325621,8 @@ is_obsolete: true id: MONDO:0016638 name: familial hypodysfibrinogenemia subset: ordo_clinical_subtype {source="Orphanet:248408"} -xref: ICD10CM:D68.2 {source="ORDO:248408/attributed", source="ORDO:248408/ntbt", source="Orphanet:248408"} -xref: OMIM:616004 {source="MONDO:subClassOf", source="ORDO:248408/ntbt", source="Orphanet:248408"} +xref: ICD10CM:D68.2 {source="Orphanet:248408", source="Orphanet:248408/attributed", source="Orphanet:248408/ntbt"} +xref: OMIM:616004 {source="MONDO:subClassOf", source="Orphanet:248408", source="Orphanet:248408/ntbt"} xref: Orphanet:248408 {source="MONDO:equivalentTo"} xref: UMLS:C0272350 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:248408"} xref: UMLS:CN201839 {source="MONDO:equivalentTo"} @@ -325797,7 +325638,7 @@ synonym: "Fried-Goldberg-Mundel syndrome" EXACT [Orphanet:2487] synonym: "lower limb malformation-hypospadias syndrome" RELATED [Orphanet:2487] xref: MESH:C535640 {source="MONDO:equivalentTo"} xref: Orphanet:2487 {source="MONDO:equivalentTo"} -xref: UMLS:C2930962 {source="Orphanet:2487", source="ORDO:2487/e", source="MONDO:equivalentTo"} +xref: UMLS:C2930962 {source="Orphanet:2487", source="MONDO:equivalentTo", source="Orphanet:2487/e"} is_a: MONDO:0015620 {source="Orphanet:2487"} ! syndromic urogenital tract malformation [Term] @@ -325813,10 +325654,10 @@ id: MONDO:0016641 name: limb transversal defect-cardiac anomaly syndrome subset: ordo_malformation_syndrome {source="Orphanet:2492"} synonym: "Hecht-Scott syndrome" EXACT [Orphanet:2492] -xref: ICD10CM:Q87.2 {source="Orphanet:2492", source="ORDO:2492/attributed", source="ORDO:2492/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:2492/attributed", source="Orphanet:2492/ntbt", source="Orphanet:2492"} xref: MESH:C535856 {source="MONDO:equivalentTo"} xref: Orphanet:2492 {source="MONDO:equivalentTo"} -xref: UMLS:C2931047 {source="MONDO:equivalentTo", source="Orphanet:2492", source="ORDO:2492/e"} +xref: UMLS:C2931047 {source="Orphanet:2492/e", source="MONDO:equivalentTo", source="Orphanet:2492"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -325838,17 +325679,17 @@ synonym: "supratentorial meningioma" RELATED [DOID:3565] xref: DOID:3565 {source="MONDO:equivalentTo"} xref: GARD:0007015 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002858 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D32.9 {source="Orphanet:2495", source="DOID:3565", source="ORDO:2495/ntbt"} +xref: ICD10CM:D32.9 {source="Orphanet:2495", source="Orphanet:2495/ntbt", source="DOID:3565"} xref: ICDO:9530/0 {source="NCIT:C3230"} -xref: MedDRA:10027191 {source="Orphanet:2495", source="ORDO:2495/e"} +xref: MedDRA:10027191 {source="Orphanet:2495", source="Orphanet:2495/e"} xref: MESH:D008577 {source="DOID:3565"} -xref: MESH:D008579 {source="Orphanet:2495", source="DOID:3565", source="MONDO:equivalentTo", source="ORDO:2495/e"} +xref: MESH:D008579 {source="Orphanet:2495", source="DOID:3565", source="MONDO:equivalentTo", source="Orphanet:2495/e"} xref: NCIT:C3229 {source="MONDO:subClassOf", source="DOID:3565"} xref: NCIT:C3230 {source="DOID:3565", source="MONDO:equivalentTo"} xref: NCIT:C4656 {source="DOID:3565"} xref: NCIT:C6971 {source="DOID:3565"} xref: NCIT:C7048 {source="DOID:3565"} -xref: OMIM:606190 {source="Orphanet:2495", source="MONDO:superClassOf", source="ORDO:2495/btnt"} +xref: OMIM:606190 {source="Orphanet:2495", source="Orphanet:2495/btnt", source="MONDO:superClassOf"} xref: ONCOTREE:MNG {source="MONDO:equivalentTo"} xref: Orphanet:2495 {source="MONDO:equivalentTo"} xref: SCTID:126965008 {source="MONDO:subClassOf", source="DOID:3565"} @@ -325862,7 +325703,7 @@ xref: SCTID:269643009 {source="DOID:3565"} xref: SCTID:302820008 {source="DOID:3565", source="MONDO:equivalentTo"} xref: SCTID:393566004 {source="DOID:3565"} xref: UMLS:C0025284 {source="MONDO:subClassOf", source="DOID:3565"} -xref: UMLS:C0025286 {source="Orphanet:2495", source="DOID:3565", source="NCIT:C3230", source="MONDO:equivalentTo", source="ORDO:2495/e"} +xref: UMLS:C0025286 {source="Orphanet:2495", source="DOID:3565", source="NCIT:C3230", source="MONDO:equivalentTo", source="Orphanet:2495/e"} xref: UMLS:C0349604 {source="DOID:3565", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1334698 {source="DOID:3565", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1336537 {source="DOID:3565", source="MONDO:notFoundInDiseaseSubset"} @@ -325880,14 +325721,14 @@ synonym: "frontonasal dysplasia 1" NARROW [NCIT:C129028] synonym: "median cleft face syndrome" EXACT [Orphanet:250] synonym: "median cleft syndrome" RELATED [GARD:0002392] xref: GARD:0002392 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.8 {source="ORDO:250/attributed", source="ORDO:250/ntbt", source="Orphanet:250"} -xref: MESH:C538065 {source="MONDO:equivalentTo", source="ORDO:250/e", source="Orphanet:250"} +xref: ICD10CM:Q75.8 {source="Orphanet:250", source="Orphanet:250/attributed", source="Orphanet:250/ntbt"} +xref: MESH:C538065 {source="MONDO:equivalentTo", source="Orphanet:250", source="Orphanet:250/e"} xref: NCIT:C129028 {source="MONDO:superClassOf"} xref: OMIMPS:136760 {source="MONDO:equivalentTo"} xref: Orphanet:250 {source="MONDO:equivalentTo"} xref: SCTID:86610004 {source="MONDO:equivalentTo"} -xref: UMLS:C0432106 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:250/e", source="Orphanet:250"} -xref: UMLS:C1876203 {source="MONDO:equivalentTo", source="NCIT:C129028", source="ORDO:250/e", source="Orphanet:250"} +xref: UMLS:C0432106 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:250", source="Orphanet:250/e"} +xref: UMLS:C1876203 {source="MONDO:equivalentTo", source="NCIT:C129028", source="Orphanet:250", source="Orphanet:250/e"} is_a: MONDO:0018234 {source="Orphanet:250"} ! dysostosis relationship: has_modifier MONDO:0021152 {source="OMIMPS:136760"} ! inherited @@ -325901,7 +325742,7 @@ synonym: "Logopenic primary progressive aphasia" EXACT [Orphanet:250831] synonym: "Logopenic variant PPA" EXACT [Orphanet:250831] synonym: "LPA" EXACT ABBREVIATION [Orphanet:250831] xref: GARD:0010791 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.0 {source="ORDO:250831/ntbt", source="Orphanet:250831"} +xref: ICD10CM:G31.0 {source="Orphanet:250831", source="Orphanet:250831/ntbt"} xref: Orphanet:250831 {source="MONDO:equivalentTo"} xref: SCTID:716380002 {source="MONDO:equivalentTo"} xref: UMLS:C4049711 {source="NCIT:C123160", source="MONDO:equivalentTo"} @@ -325925,7 +325766,7 @@ id: MONDO:0016646 name: autosomal dominant optic atrophy and peripheral neuropathy def: "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." [Orphanet:250932] subset: ordo_disease {source="Orphanet:250932"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:250932", source="ORDO:250932/attributed", source="ORDO:250932/ntbt"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:250932/attributed", source="Orphanet:250932/ntbt", source="Orphanet:250932"} xref: Orphanet:250932 {source="MONDO:equivalentTo"} xref: UMLS:CN201872 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -325938,9 +325779,9 @@ name: autosomal recessive Stickler syndrome def: "A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." [Orphanet:250984] subset: ordo_clinical_subtype {source="Orphanet:250984"} synonym: "Stickler syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:Q87.5 {source="ORDO:250984/attributed", source="ORDO:250984/ntbt", source="Orphanet:250984"} -xref: OMIM:614134 {source="ORDO:250984/btnt", source="MONDO:superClassOf", source="Orphanet:250984"} -xref: OMIM:614284 {source="ORDO:250984/btnt", source="MONDO:superClassOf", source="Orphanet:250984"} +xref: ICD10CM:Q87.5 {source="Orphanet:250984/attributed", source="Orphanet:250984/ntbt", source="Orphanet:250984"} +xref: OMIM:614134 {source="MONDO:superClassOf", source="Orphanet:250984/btnt", source="Orphanet:250984"} +xref: OMIM:614284 {source="MONDO:superClassOf", source="Orphanet:250984/btnt", source="Orphanet:250984"} xref: Orphanet:250984 {source="MONDO:equivalentTo"} xref: UMLS:CN201875 {source="MONDO:equivalentTo"} is_a: MONDO:0019354 {source="MONDO:Redundant", source="Orphanet:250984"} ! Stickler syndrome @@ -325964,9 +325805,9 @@ synonym: "polyepiphyseal dysplasia" EXACT [DOID:12721] xref: DOID:12721 {source="MONDO:equivalentTo"} xref: GARD:0010756 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002654 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="ORDO:251/index", source="ORDO:251/ntbt", source="Orphanet:251"} +xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:251/ntbt", source="Orphanet:251", source="Orphanet:251/index"} xref: ICD9:756.56 {source="DOID:12721", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028197 {source="ORDO:251/e", source="Orphanet:251"} +xref: MedDRA:10028197 {source="Orphanet:251/e", source="Orphanet:251"} xref: MESH:D010009 {source="MONDO:subClassOf", source="DOID:12721"} xref: OMIM:132400 {source="DOID:12721", source="MONDO:superClassOf"} xref: OMIM:226900 {source="DOID:12721", source="MONDO:superClassOf"} @@ -325978,7 +325819,7 @@ xref: OMIMPS:132400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:251 {source="DOID:12721", source="MONDO:equivalentTo"} xref: SCTID:205504001 {source="DOID:12721"} xref: SCTID:59708000 {source="DOID:12721", source="MONDO:equivalentTo"} -xref: UMLS:C0026760 {source="DOID:12721", source="ORDO:251/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251"} +xref: UMLS:C0026760 {source="DOID:12721", source="Orphanet:251/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251"} is_a: MONDO:0005516 {source="DOID:12721", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019692 {source="Orphanet:251"} ! multiple epiphyseal dysplasia and pseudoachondroplasia relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -325998,15 +325839,15 @@ synonym: "Warburg micro syndrome" EXACT [Orphanet:2510] synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [DOID:0060237] xref: DOID:0060237 {source="MONDO:equivalentTo"} xref: GARD:0005534 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:2510", source="ORDO:2510/attributed", source="ORDO:2510/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:2510/attributed", source="Orphanet:2510/ntbt", source="Orphanet:2510"} xref: MESH:C536681 {source="DOID:0060237"} -xref: OMIM:600118 {source="ORDO:2510/e", source="Orphanet:2510", source="MONDO:superClassOf"} -xref: OMIM:614222 {source="Orphanet:2510", source="MONDO:superClassOf", source="ORDO:2510/btnt"} -xref: OMIM:614225 {source="Orphanet:2510", source="MONDO:superClassOf", source="ORDO:2510/btnt"} -xref: OMIM:615663 {source="Orphanet:2510", source="MONDO:superClassOf", source="ORDO:2510/btnt"} +xref: OMIM:600118 {source="Orphanet:2510", source="MONDO:superClassOf", source="Orphanet:2510/e"} +xref: OMIM:614222 {source="Orphanet:2510/btnt", source="Orphanet:2510", source="MONDO:superClassOf"} +xref: OMIM:614225 {source="Orphanet:2510/btnt", source="Orphanet:2510", source="MONDO:superClassOf"} +xref: OMIM:615663 {source="Orphanet:2510/btnt", source="Orphanet:2510", source="MONDO:superClassOf"} xref: OMIMPS:600118 {source="DOID:0060237", source="MONDO:equivalentTo"} xref: Orphanet:2510 {source="DOID:0060237", source="MONDO:equivalentTo"} -xref: UMLS:C1838625 {source="ORDO:2510/e", source="Orphanet:2510", source="DOID:0060237", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1838625 {source="Orphanet:2510", source="DOID:0060237", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2510/e"} xref: UMLS:CN158709 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:2510", source="Orphanet:2510/inferred"} ! syndromic intellectual disability is_a: MONDO:0006025 {source="DOID:0060237", source="MONDO:Redundant"} ! autosomal recessive disease @@ -326024,7 +325865,7 @@ def: "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of pa subset: ordo_malformation_syndrome {source="Orphanet:251004"} synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251004] synonym: "UPD(1)pat" EXACT [Orphanet:251004] -xref: ICD10CM:Q99.8 {source="ORDO:251004/attributed", source="ORDO:251004/ntbt", source="Orphanet:251004"} +xref: ICD10CM:Q99.8 {source="Orphanet:251004", source="Orphanet:251004/attributed", source="Orphanet:251004/ntbt"} xref: Orphanet:251004 {source="MONDO:equivalentTo"} xref: SCTID:766719006 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -326037,7 +325878,7 @@ def: "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of ma subset: ordo_malformation_syndrome {source="Orphanet:251009"} synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251009] synonym: "UPD(1)mat" EXACT [Orphanet:251009] -xref: ICD10CM:Q99.8 {source="Orphanet:251009", source="ORDO:251009/attributed", source="ORDO:251009/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:251009/attributed", source="Orphanet:251009/ntbt", source="Orphanet:251009"} xref: Orphanet:251009 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr1 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 1 (Human) @@ -326049,7 +325890,7 @@ def: "2q31.1 microdeletion syndrome is a well-defined and clinically recognisabl subset: ordo_malformation_syndrome {source="Orphanet:251014"} synonym: "Del(2)(q31.1)" EXACT [Orphanet:251014] synonym: "monosomy 2q31.1" EXACT [Orphanet:251014] -xref: ICD10CM:Q93.5 {source="ORDO:251014/attributed", source="ORDO:251014/ntbt", source="Orphanet:251014"} +xref: ICD10CM:Q93.5 {source="Orphanet:251014", source="Orphanet:251014/attributed", source="Orphanet:251014/ntbt"} xref: Orphanet:251014 {source="MONDO:equivalentTo"} xref: SCTID:716387004 {source="MONDO:equivalentTo"} xref: UMLS:C4274647 {source="MONDO:equivalentTo"} @@ -326066,7 +325907,7 @@ def: "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resu subset: ordo_malformation_syndrome {source="Orphanet:251028"} synonym: "Del(2)(q33.1)" EXACT [Orphanet:251028] synonym: "monosomy 2q33.1" EXACT [Orphanet:251028] -xref: ICD10CM:Q93.5 {source="ORDO:251028/attributed", source="ORDO:251028/ntbt", source="Orphanet:251028"} +xref: ICD10CM:Q93.5 {source="Orphanet:251028/attributed", source="Orphanet:251028/ntbt", source="Orphanet:251028"} xref: Orphanet:251028 {source="MONDO:equivalentTo"} xref: SCTID:763062006 {source="MONDO:equivalentTo"} xref: UMLS:CN201882 {source="MONDO:equivalentTo"} @@ -326088,7 +325929,7 @@ synonym: "Ring chromosome 5 syndrome" RELATED [Orphanet:251043] synonym: "Ring chromosome type 5" EXACT [MONDORULE:1, Orphanet:251043] synonym: "rose cluster 5" EXACT [NCIT:C121984] xref: GARD:0010841 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:251043", source="ORDO:251043/attributed", source="ORDO:251043/ntbt"} +xref: ICD10CM:Q93.2 {source="Orphanet:251043", source="Orphanet:251043/attributed", source="Orphanet:251043/ntbt"} xref: NCIT:C121984 {source="MONDO:equivalentTo"} xref: Orphanet:251043 {source="MONDO:equivalentTo"} xref: SCTID:765487008 {source="MONDO:equivalentTo"} @@ -326104,7 +325945,7 @@ def: "6p22 microdeletion syndrome is a newly described syndrome associated with subset: ordo_malformation_syndrome {source="Orphanet:251046"} synonym: "Del(6)(p22)" EXACT [Orphanet:251046] synonym: "monosomy 6p22" EXACT [Orphanet:251046] -xref: ICD10CM:Q93.5 {source="ORDO:251046/attributed", source="ORDO:251046/ntbt", source="Orphanet:251046"} +xref: ICD10CM:Q93.5 {source="Orphanet:251046", source="Orphanet:251046/attributed", source="Orphanet:251046/ntbt"} xref: Orphanet:251046 {source="MONDO:equivalentTo"} xref: SCTID:719662000 {source="MONDO:equivalentTo"} xref: UMLS:C4304528 {source="MONDO:equivalentTo"} @@ -326120,7 +325961,7 @@ name: 7q31 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:251061"} synonym: "Del(7)(q31)" EXACT [Orphanet:251061] synonym: "monosomy 7q31" EXACT [Orphanet:251061] -xref: ICD10CM:Q93.5 {source="ORDO:251061/attributed", source="ORDO:251061/ntbt", source="Orphanet:251061"} +xref: ICD10CM:Q93.5 {source="Orphanet:251061/attributed", source="Orphanet:251061/ntbt", source="Orphanet:251061"} xref: Orphanet:251061 {source="MONDO:equivalentTo"} xref: UMLS:CN201886 {source="MONDO:equivalentTo"} is_a: MONDO:0016906 {source="Orphanet:251061"} ! partial deletion of the long arm of chromosome 7 @@ -326135,7 +325976,7 @@ def: "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by th subset: ordo_malformation_syndrome {source="Orphanet:251066"} synonym: "Del(8)(p11.2)" EXACT [Orphanet:251066] synonym: "monosomy 8p11.2" EXACT [Orphanet:251066] -xref: ICD10CM:Q93.5 {source="Orphanet:251066", source="ORDO:251066/attributed", source="ORDO:251066/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:251066/attributed", source="Orphanet:251066/ntbt", source="Orphanet:251066"} xref: Orphanet:251066 {source="MONDO:equivalentTo"} xref: SCTID:719646006 {source="MONDO:equivalentTo"} xref: UMLS:C4304505 {source="MONDO:equivalentTo"} @@ -326156,7 +325997,7 @@ synonym: "Del(8)(p23.1)" EXACT [Orphanet:251071] synonym: "deletion 8p23.1" RELATED [GARD:0003769] synonym: "monosomy 8p23.1" EXACT [Orphanet:251071] xref: GARD:0003769 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.5 {source="ORDO:251071/attributed", source="ORDO:251071/ntbt", source="Orphanet:251071"} +xref: ICD10CM:Q93.5 {source="Orphanet:251071/attributed", source="Orphanet:251071/ntbt", source="Orphanet:251071"} xref: MESH:C537827 {source="MONDO:equivalentTo"} xref: Orphanet:251071 {source="MONDO:equivalentTo"} xref: SCTID:716381003 {source="MONDO:equivalentTo"} @@ -326200,24 +326041,24 @@ synonym: "microcephaly, primary, autosomal recessive" EXACT [MONDO:0000061] synonym: "true microcephaly" EXACT [Orphanet:2512] xref: DOID:0070296 {source="MONDO:equivalentTo"} xref: GARD:0012117 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q02 {source="ORDO:2512/attributed", source="ORDO:2512/ntbt", source="Orphanet:2512"} +xref: ICD10CM:Q02 {source="Orphanet:2512", source="Orphanet:2512/attributed", source="Orphanet:2512/ntbt"} xref: MESH:C579935 {source="MONDO:equivalentTo"} -xref: OMIM:251200 {source="ORDO:2512/e", source="MONDO:superClassOf", source="Orphanet:2512"} -xref: OMIM:603802 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:604317 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:604321 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:604804 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:608393 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:608716 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:612703 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:614673 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:614852 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:615414 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:616080 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:616402 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:616486 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:616681 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} -xref: OMIM:617090 {source="MONDO:superClassOf", source="ORDO:2512/btnt", source="Orphanet:2512"} +xref: OMIM:251200 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/e"} +xref: OMIM:603802 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:604317 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:604321 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:604804 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:608393 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:608716 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:612703 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:614673 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:614852 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:615414 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:616080 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:616402 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:616486 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:616681 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} +xref: OMIM:617090 {source="MONDO:superClassOf", source="Orphanet:2512", source="Orphanet:2512/btnt"} xref: OMIMPS:251200 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="MONDO:equivalentTo"} xref: SCTID:715981004 {source="MONDO:equivalentTo"} @@ -326233,7 +326074,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12117/autosom id: MONDO:0016661 name: infantile onset panniculitis with uveitis and systemic granulomatosis subset: ordo_disease {source="Orphanet:251304"} -xref: ICD10CM:M08.8 {source="ORDO:251304/ntbt", source="Orphanet:251304"} +xref: ICD10CM:M08.8 {source="Orphanet:251304", source="Orphanet:251304/ntbt"} xref: Orphanet:251304 {source="MONDO:equivalentTo"} is_a: MONDO:0017955 {source="Orphanet:251304"} ! granulomatous autoinflammatory syndrome is_a: MONDO:0019751 ! autoinflammatory syndrome @@ -326245,7 +326086,7 @@ name: idiopathic recurrent pericarditis def: "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." [Orphanet:251307] subset: ordo_disease {source="Orphanet:251307"} synonym: "idiopathic relapsing pericarditis" EXACT [Orphanet:251307] -xref: ICD10CM:I09.2 {source="MONDO:relatedTo", source="ORDO:251307/ntbt", source="Orphanet:251307"} +xref: ICD10CM:I09.2 {source="MONDO:relatedTo", source="Orphanet:251307/ntbt", source="Orphanet:251307"} xref: Orphanet:251307 {source="MONDO:equivalentTo"} xref: SCTID:766704005 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 {source="Orphanet:251307", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome @@ -326256,11 +326097,11 @@ id: MONDO:0016663 name: overlapping connective tissue disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:251312"} -xref: ICD10CM:M35.1 {source="ORDO:251312/e", source="Orphanet:251312"} -xref: MedDRA:10027754 {source="ORDO:251312/e", source="Orphanet:251312"} +xref: ICD10CM:M35.1 {source="Orphanet:251312", source="Orphanet:251312/e"} +xref: MedDRA:10027754 {source="Orphanet:251312", source="Orphanet:251312/e"} xref: Orphanet:251312 {source="MONDO:equivalentTo"} -xref: UMLS:C0026272 {source="ORDO:251312/e", source="MONDO:superClassOf", source="Orphanet:251312"} -xref: UMLS:C1858556 {source="ORDO:251312/e", source="MONDO:superClassOf", source="Orphanet:251312"} +xref: UMLS:C0026272 {source="MONDO:superClassOf", source="Orphanet:251312", source="Orphanet:251312/e"} +xref: UMLS:C1858556 {source="MONDO:superClassOf", source="Orphanet:251312", source="Orphanet:251312/e"} xref: UMLS:CN201903 {source="MONDO:equivalentTo"} is_a: MONDO:0003900 {source="PMID:22743033"} ! connective tissue disorder is_a: MONDO:0007179 {source="Orphanet:251312"} ! autoimmune disease @@ -326272,7 +326113,7 @@ def: "A skin hypersensitivity reaction due to exposure to a pharmacologic substa subset: ordo_disease {source="Orphanet:251325"} synonym: "drug induced cutaneous vasculitis" EXACT [NCIT:C112204] synonym: "drug induced vasculitis" EXACT [NCIT:C112204] -xref: ICD10CM:M31.8 {source="ORDO:251325/ntbt", source="Orphanet:251325"} +xref: ICD10CM:M31.8 {source="Orphanet:251325/ntbt", source="Orphanet:251325"} xref: NCIT:C112204 {source="MONDO:equivalentTo"} xref: Orphanet:251325 {source="MONDO:equivalentTo"} xref: UMLS:C3812646 {source="MONDO:equivalentTo", source="NCIT:C112204"} @@ -326284,7 +326125,7 @@ intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug id: MONDO:0016665 name: obsolete unclassified vasculitis subset: ordo_disease {source="Orphanet:251328"} -xref: ICD10CM:M31.8 {source="Orphanet:251328", source="ORDO:251328/ntbt"} +xref: ICD10CM:M31.8 {source="Orphanet:251328/ntbt", source="Orphanet:251328"} xref: Orphanet:251328 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/2494 property_value: IAO:0000231 "out of scope" xsd:string @@ -326308,7 +326149,7 @@ subset: gard_rare {source="GARD:0012459"} subset: ordo_group_of_disorders {source="Orphanet:251355"} synonym: "Double heterozygotes sickling disorder" EXACT [Orphanet:251355] xref: GARD:0012459 {source="MONDO:equivalentTo"} -xref: ICD10CM:D57.2 {source="Orphanet:251355", source="ORDO:251355/e", source="ORDO:251355/specific"} +xref: ICD10CM:D57.2 {source="Orphanet:251355", source="Orphanet:251355/specific", source="Orphanet:251355/e"} xref: Orphanet:251355 {source="MONDO:equivalentTo"} xref: UMLS:CN201907 {source="MONDO:equivalentTo"} is_a: MONDO:0017146 {source="Orphanet:251355"} ! sickle cell disease and related diseases @@ -326332,14 +326173,14 @@ synonym: "sickle cell-Beta thalassemia" EXACT [NCIT:C95539] synonym: "sickle cell-Beta-thalassemia" EXACT [NCIT:C95539] synonym: "sickle cell-beta-thalassemia disease syndrome" EXACT [GARD:0010333] xref: GARD:0010333 {source="MONDO:equivalentTo"} -xref: ICD10CM:D57.2 {source="ORDO:251359/inclusion", source="ORDO:251359/ntbt", source="Orphanet:251359"} -xref: MedDRA:10040655 {source="Orphanet:251359", source="ORDO:251359/e"} -xref: MedDRA:10055579 {source="Orphanet:251359", source="ORDO:251359/e"} +xref: ICD10CM:D57.2 {source="Orphanet:251359/inclusion", source="Orphanet:251359", source="Orphanet:251359/ntbt"} +xref: MedDRA:10040655 {source="Orphanet:251359/e", source="Orphanet:251359"} +xref: MedDRA:10055579 {source="Orphanet:251359/e", source="Orphanet:251359"} xref: NCIT:C95539 {source="MONDO:equivalentTo"} xref: Orphanet:251359 {source="GARD:0010333", source="MONDO:equivalentTo"} xref: SCTID:127041004 {source="MONDO:equivalentTo"} -xref: UMLS:C0221019 {source="GARD:0010333", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251359", source="ORDO:251359/e"} -xref: UMLS:C0857812 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251359", source="ORDO:251359/e"} +xref: UMLS:C0221019 {source="Orphanet:251359/e", source="GARD:0010333", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251359"} +xref: UMLS:C0857812 {source="Orphanet:251359/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251359"} is_a: MONDO:0016667 {source="Orphanet:251359"} ! sickle cell disease associated with an other hemoglobin anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia xsd:anyURI {source="GARD:0010333"} @@ -326350,10 +326191,10 @@ subset: ordo_disease {source="Orphanet:251365"} synonym: "HbSC disease" EXACT [Orphanet:251365] synonym: "sickle cell - hemoglobin C disease" RELATED [GARD:0006584] xref: GARD:0006584 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D57.2 {source="ORDO:251365/ntbt", source="Orphanet:251365", source="ORDO:251365/inclusion"} -xref: MedDRA:10057072 {source="ORDO:251365/e", source="Orphanet:251365"} +xref: ICD10CM:D57.2 {source="Orphanet:251365/inclusion", source="Orphanet:251365", source="Orphanet:251365/ntbt"} +xref: MedDRA:10057072 {source="Orphanet:251365", source="Orphanet:251365/e"} xref: Orphanet:251365 {source="MONDO:equivalentTo"} -xref: UMLS:C0019034 {source="ORDO:251365/e", source="MONDO:equivalentTo", source="Orphanet:251365"} +xref: UMLS:C0019034 {source="MONDO:equivalentTo", source="Orphanet:251365", source="Orphanet:251365/e"} is_a: MONDO:0016667 {source="Orphanet:251365"} ! sickle cell disease associated with an other hemoglobin anomaly [Term] @@ -326363,10 +326204,10 @@ subset: ordo_disease {source="Orphanet:251370"} synonym: "HbSD disease" EXACT [Orphanet:251370] synonym: "sickle cell - hemoglobin D disease" RELATED [GARD:0012458] xref: GARD:0012458 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D57.2 {source="Orphanet:251370", source="ORDO:251370/inclusion", source="ORDO:251370/ntbt"} -xref: MedDRA:10056724 {source="Orphanet:251370", source="ORDO:251370/e"} +xref: ICD10CM:D57.2 {source="Orphanet:251370", source="Orphanet:251370/ntbt", source="Orphanet:251370/inclusion"} +xref: MedDRA:10056724 {source="Orphanet:251370", source="Orphanet:251370/e"} xref: Orphanet:251370 {source="MONDO:equivalentTo"} -xref: UMLS:C0272084 {source="Orphanet:251370", source="MONDO:equivalentTo", source="ORDO:251370/e"} +xref: UMLS:C0272084 {source="Orphanet:251370", source="MONDO:equivalentTo", source="Orphanet:251370/e"} is_a: MONDO:0016667 {source="Orphanet:251370"} ! sickle cell disease associated with an other hemoglobin anomaly [Term] @@ -326374,9 +326215,9 @@ id: MONDO:0016671 name: sickle cell-hemoglobin E disease syndrome subset: ordo_disease {source="Orphanet:251375"} synonym: "HbSE disease" EXACT [Orphanet:251375] -xref: ICD10CM:D57.2 {source="Orphanet:251375", source="ORDO:251375/ntbt", source="ORDO:251375/inclusion"} +xref: ICD10CM:D57.2 {source="Orphanet:251375/ntbt", source="Orphanet:251375/inclusion", source="Orphanet:251375"} xref: Orphanet:251375 {source="MONDO:equivalentTo"} -xref: UMLS:C0272085 {source="MONDO:equivalentObsolete", source="Orphanet:251375", source="ORDO:251375/e"} +xref: UMLS:C0272085 {source="MONDO:equivalentObsolete", source="Orphanet:251375", source="Orphanet:251375/e"} is_a: MONDO:0016667 {source="Orphanet:251375"} ! sickle cell disease associated with an other hemoglobin anomaly [Term] @@ -326384,12 +326225,12 @@ id: MONDO:0016672 name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome subset: ordo_disease {source="Orphanet:251380"} synonym: "HPFH-sickle cell disease syndrome" EXACT [Orphanet:251380] -xref: HGNC:3627 {source="ORDO:251380/btnt", source="Orphanet:251380"} -xref: HGNC:5153 {source="ORDO:251380/btnt", source="Orphanet:251380"} -xref: ICD10CM:D57.2 {source="ORDO:251380/attributed", source="ORDO:251380/ntbt", source="Orphanet:251380"} -xref: OMIM:141749 {source="MONDO:relatedTo", source="ORDO:251380/btnt", source="Orphanet:251380"} -xref: OMIM:142470 {source="MONDO:relatedTo", source="ORDO:251380/btnt", source="Orphanet:251380"} -xref: OMIM:613566 {source="MONDO:relatedTo", source="ORDO:251380/btnt", source="Orphanet:251380"} +xref: HGNC:3627 {source="Orphanet:251380/btnt", source="Orphanet:251380"} +xref: HGNC:5153 {source="Orphanet:251380/btnt", source="Orphanet:251380"} +xref: ICD10CM:D57.2 {source="Orphanet:251380/attributed", source="Orphanet:251380/ntbt", source="Orphanet:251380"} +xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} +xref: OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} +xref: OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} xref: Orphanet:251380 {source="MONDO:equivalentTo"} xref: UMLS:CN201912 {source="MONDO:equivalentTo"} is_a: MONDO:0016667 {source="Orphanet:251380"} ! sickle cell disease associated with an other hemoglobin anomaly @@ -326402,8 +326243,8 @@ subset: gard_rare {source="GARD:0012923"} subset: ordo_clinical_subtype {source="Orphanet:251393"} synonym: "JEB-nH loc" EXACT [Orphanet:251393] xref: GARD:0012923 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.8 {source="Orphanet:251393", source="ORDO:251393/attributed", source="ORDO:251393/ntbt"} -xref: OMIM:226650 {source="MONDO:subClassOf", source="Orphanet:251393", source="ORDO:251393/ntbt"} +xref: ICD10CM:Q81.8 {source="Orphanet:251393", source="Orphanet:251393/attributed", source="Orphanet:251393/ntbt"} +xref: OMIM:226650 {source="MONDO:subClassOf", source="Orphanet:251393", source="Orphanet:251393/ntbt"} xref: Orphanet:251393 {source="MONDO:equivalentTo"} xref: UMLS:CN201914 {source="MONDO:equivalentTo"} is_a: MONDO:0009180 {source="Orphanet:251393"} ! junctional epidermolysis bullosa, non-Herlitz type @@ -326418,14 +326259,14 @@ comment: Editor note: todo - make disjoint with complete form (some classes inhe subset: ordo_malformation_syndrome {source="Orphanet:251510"} synonym: "46,XY partial testicular dysgenesis" EXACT [Orphanet:251510] synonym: "46,XY PGD" EXACT [Orphanet:251510] -xref: ICD10CM:Q56.1 {source="ORDO:251510/attributed", source="ORDO:251510/ntbt", source="Orphanet:251510"} -xref: OMIM:154230 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} -xref: OMIM:300018 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} -xref: OMIM:612965 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} -xref: OMIM:613762 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} -xref: OMIM:615542 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} -xref: OMIM:616067 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} -xref: OMIM:616425 {source="ORDO:251510/btnt", source="MONDO:superClassOf", source="Orphanet:251510"} +xref: ICD10CM:Q56.1 {source="Orphanet:251510", source="Orphanet:251510/attributed", source="Orphanet:251510/ntbt"} +xref: OMIM:154230 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} +xref: OMIM:300018 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} +xref: OMIM:612965 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} +xref: OMIM:613762 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} +xref: OMIM:615542 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} +xref: OMIM:616067 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} +xref: OMIM:616425 {source="MONDO:superClassOf", source="Orphanet:251510", source="Orphanet:251510/btnt"} xref: Orphanet:251510 {source="MONDO:equivalentTo"} xref: SCTID:725045004 {source="MONDO:equivalentTo"} xref: UMLS:C4510744 {source="MONDO:equivalentTo"} @@ -326447,9 +326288,9 @@ synonym: "short Achilles tendon" EXACT [Orphanet:251515] synonym: "short tendo calcaneus" EXACT [Orphanet:251515] synonym: "tendo calcaneus, short" RELATED [OMIM:187370] xref: DOID:0111593 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="Orphanet:251515", source="ORDO:251515/attributed", source="ORDO:251515/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:251515/attributed", source="Orphanet:251515/ntbt", source="Orphanet:251515"} xref: MESH:C566069 {source="MONDO:equivalentTo"} -xref: OMIM:187370 {source="MONDO:equivalentTo", source="Orphanet:251515", source="ORDO:251515/ntbt"} +xref: OMIM:187370 {source="MONDO:equivalentTo", source="Orphanet:251515/ntbt", source="Orphanet:251515"} xref: Orphanet:251515 {source="MONDO:equivalentTo"} xref: SCTID:275336002 {source="MONDO:equivalentTo"} xref: UMLS:C1861238 {source="OMIM:187370", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:251515"} @@ -326461,8 +326302,8 @@ name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder def: "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." [Orphanet:251523] subset: ordo_disease {source="Orphanet:251523"} synonym: "hyperzincemia and hypercalprotectinemia" EXACT [Orphanet:251523] -xref: ICD10CM:E83.2 {source="ORDO:251523/attributed", source="ORDO:251523/ntbt", source="Orphanet:251523"} -xref: OMIM:194470 {source="MONDO:subClassOf", source="ORDO:251523/ntbt", source="Orphanet:251523"} +xref: ICD10CM:E83.2 {source="Orphanet:251523/attributed", source="Orphanet:251523/ntbt", source="Orphanet:251523"} +xref: OMIM:194470 {source="MONDO:subClassOf", source="Orphanet:251523/ntbt", source="Orphanet:251523"} xref: Orphanet:251523 {source="MONDO:equivalentTo"} xref: UMLS:C1860229 {source="MONDO:equivalentTo", source="Orphanet:251523"} is_a: MONDO:0008691 ! zinc, elevated plasma @@ -326500,7 +326341,7 @@ xref: Orphanet:251558 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0021193 -consider: UMLS:C0206715 {source="ORDO:251558/e", source="Orphanet:251558"} +consider: UMLS:C0206715 {source="Orphanet:251558/e", source="Orphanet:251558"} [Term] id: MONDO:0016680 @@ -326532,9 +326373,9 @@ synonym: "sarcomatous glioblastoma" RELATED [GARD:0005653] xref: DOID:3071 {source="MONDO:equivalentTo"} xref: EFO:1001465 {source="MONDO:equivalentTo"} xref: GARD:0005653 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.9 {source="ORDO:251576/ntbt", source="Orphanet:251576"} +xref: ICD10CM:G71.9 {source="Orphanet:251576", source="Orphanet:251576/ntbt"} xref: ICDO:9442/3 {source="NCIT:C3796"} -xref: MedDRA:10018340 {source="ORDO:251576/e", source="Orphanet:251576"} +xref: MedDRA:10018340 {source="Orphanet:251576", source="Orphanet:251576/e"} xref: MESH:D018316 {source="MONDO:equivalentTo", source="DOID:3071"} xref: NCIT:C3796 {source="MONDO:equivalentTo", source="DOID:3071"} xref: ONCOTREE:GSARC {source="MONDO:equivalentTo"} @@ -326542,7 +326383,7 @@ xref: Orphanet:251576 {source="MONDO:equivalentTo"} xref: SCTID:189909006 {source="DOID:3071"} xref: SCTID:189918008 {source="DOID:3071"} xref: SCTID:35262004 {source="DOID:3071"} -xref: UMLS:C0206726 {source="MONDO:equivalentTo", source="ORDO:251576/e", source="NCIT:C3796", source="Orphanet:251576", source="DOID:3071"} +xref: UMLS:C0206726 {source="MONDO:equivalentTo", source="NCIT:C3796", source="Orphanet:251576", source="DOID:3071", source="Orphanet:251576/e"} is_a: MONDO:0002501 ! brain glioblastoma is_a: MONDO:0018177 {source="DOID:3071", source="MONDO:Redundant", source="NCIT:C3796/inferred", source="ONCOTREE:GSARC", source="Orphanet:251576", source="indirect"} ! glioblastoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma xsd:anyURI {source="GARD:0005653"} @@ -326555,13 +326396,13 @@ subset: ordo_histopathological_subtype {source="Orphanet:251579"} synonym: "Monstrocellular sarcoma" EXACT [DOID:3074] synonym: "Monstrocellular sarcoma [obs]" EXACT [DOID:3074] xref: DOID:3074 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251579/ntbt", source="Orphanet:251579"} +xref: ICD10CM:C71.9 {source="Orphanet:251579", source="Orphanet:251579/ntbt"} xref: ICDO:9441/3 {source="NCIT:C4325"} xref: MESH:D005909 {source="DOID:3074"} xref: NCIT:C4325 {source="MONDO:equivalentTo", source="DOID:3074"} xref: Orphanet:251579 {source="MONDO:equivalentTo"} xref: SCTID:44529004 {source="DOID:3074"} -xref: UMLS:C0334588 {source="MONDO:equivalentTo", source="Orphanet:251579", source="NCIT:C4325", source="ORDO:251579/e", source="DOID:3074"} +xref: UMLS:C0334588 {source="Orphanet:251579/e", source="MONDO:equivalentTo", source="Orphanet:251579", source="NCIT:C4325", source="DOID:3074"} xref: UMLS:C0334593 {source="MONDO:equivalentTo"} is_a: MONDO:0002501 ! brain glioblastoma is_a: MONDO:0018177 {source="DOID:3074", source="MONDO:Redundant", source="NCIT:C4325/inferred", source="Orphanet:251579", source="indirect"} ! glioblastoma @@ -326578,14 +326419,14 @@ synonym: "gliomatosis cerebri" EXACT [NCIT:C4318] synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [DOID:6128] xref: DOID:6128 {source="MONDO:equivalentTo"} xref: GARD:0006514 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.0 {source="Orphanet:251582", source="ORDO:251582/ntbt"} +xref: ICD10CM:C71.0 {source="Orphanet:251582", source="Orphanet:251582/ntbt"} xref: ICDO:9381/3 {source="NCIT:C4318"} -xref: MedDRA:10066254 {source="Orphanet:251582", source="ORDO:251582/e"} +xref: MedDRA:10066254 {source="Orphanet:251582", source="Orphanet:251582/e"} xref: MESH:D018302 {source="MONDO:subClassOf", source="DOID:6128"} xref: NCIT:C4318 {source="DOID:6128", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:251582 {source="MONDO:equivalentTo"} xref: SCTID:26138003 {source="DOID:6128"} -xref: UMLS:C0334576 {source="Orphanet:251582", source="ORDO:251582/e", source="DOID:6128", source="MONDO:equivalentTo", source="NCIT:C4318"} +xref: UMLS:C0334576 {source="Orphanet:251582", source="DOID:6128", source="MONDO:equivalentTo", source="Orphanet:251582/e", source="NCIT:C4318"} is_a: MONDO:0001657 {source="DOID:6128", source="MONDO:Redundant", source="NCIT:C4318"} ! brain cancer is_a: MONDO:0016680 {source="Orphanet:251582"} ! high grade astrocytic tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri xsd:anyURI {source="GARD:0006514"} @@ -326605,16 +326446,16 @@ synonym: "malignant astrocytoma" EXACT [NCIT:C9477] xref: DOID:3078 {source="MONDO:equivalentTo"} xref: EFO:0002499 {source="MONDO:equivalentTo"} xref: GARD:0005860 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C71.9 {source="ORDO:251589/ntbt", source="Orphanet:251589"} +xref: ICD10CM:C71.9 {source="Orphanet:251589/ntbt", source="Orphanet:251589"} xref: ICDO:9401/3 {source="NCIT:C9477"} -xref: MedDRA:10002224 {source="ORDO:251589/e", source="Orphanet:251589"} -xref: MedDRA:10060971 {source="ORDO:251589/e", source="Orphanet:251589"} +xref: MedDRA:10002224 {source="Orphanet:251589/e", source="Orphanet:251589"} +xref: MedDRA:10060971 {source="Orphanet:251589/e", source="Orphanet:251589"} xref: MESH:D001254 {source="DOID:3078", source="MONDO:subClassOf"} xref: NCIT:C9477 {source="DOID:3078", source="MONDO:equivalentTo"} xref: ONCOTREE:AASTR {source="MONDO:equivalentTo"} xref: Orphanet:251589 {source="MONDO:equivalentTo"} xref: SCTID:55353007 {source="DOID:3078"} -xref: UMLS:C0334579 {source="DOID:3078", source="NCIT:C9477", source="MONDO:equivalentTo", source="ORDO:251589/e", source="Orphanet:251589"} +xref: UMLS:C0334579 {source="DOID:3078", source="Orphanet:251589/e", source="NCIT:C9477", source="MONDO:equivalentTo", source="Orphanet:251589"} is_a: MONDO:0016680 {source="NCIT:C9477", source="Orphanet:251589"} ! high grade astrocytic tumor is_a: MONDO:0019781 {source="DOID:3078", source="NCIT:C9477"} ! astrocytoma (excluding glioblastoma) intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma) @@ -326625,9 +326466,9 @@ id: MONDO:0016685 name: low-grade astrocytoma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:251592"} -xref: MedDRA:10065869 {source="ORDO:251592/e", source="Orphanet:251592"} +xref: MedDRA:10065869 {source="Orphanet:251592", source="Orphanet:251592/e"} xref: Orphanet:251592 {source="MONDO:equivalentTo"} -xref: UMLS:C1314694 {source="ORDO:251592/e", source="Orphanet:251592", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1314694 {source="Orphanet:251592", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251592/e"} is_a: MONDO:0019781 {source="MONDO:Redundant", source="Orphanet:251592"} ! astrocytoma (excluding glioblastoma) intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma) intersection_of: has_modifier MONDO:0024495 ! tumor grade 1 or 2, general grading system @@ -326650,11 +326491,11 @@ synonym: "low-grade diffuse astrocytoma" RELATED [GARD:0005907] synonym: "protoplasmic astrocytoma (histologic variant)" RELATED [GARD:0005907] synonym: "WHO grade II astrocytoma" EXACT [NCIT:C7173] xref: GARD:0005907 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C71.9 {source="Orphanet:251595", source="ORDO:251595/ntbt"} +xref: ICD10CM:C71.9 {source="Orphanet:251595/ntbt", source="Orphanet:251595"} xref: NCIT:C7173 {source="MONDO:equivalentTo"} xref: ONCOTREE:DASTR {source="MONDO:equivalentTo"} xref: Orphanet:251595 {source="MONDO:equivalentTo"} -xref: UMLS:C0280785 {source="Orphanet:251595", source="ORDO:251595/e", source="MONDO:equivalentTo", source="NCIT:C7173"} +xref: UMLS:C0280785 {source="Orphanet:251595", source="MONDO:equivalentTo", source="Orphanet:251595/e", source="NCIT:C7173"} is_a: MONDO:0016685 {source="MONDO:Redundant", source="Orphanet:251595"} ! low-grade astrocytoma is_a: MONDO:0019781 {source="MONDO:0016686/inferred", source="MONDO:Redundant", source="NCIT:C7173", source="indirect"} ! astrocytoma (excluding glioblastoma) is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C7173"} ! grade II glioma @@ -326669,13 +326510,13 @@ synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008, NCIT:C4320] synonym: "protoplasmic astrocytoma" EXACT [NCIT:C4320] synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008] xref: DOID:7008 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251598/ntbt", source="Orphanet:251598"} +xref: ICD10CM:C71.9 {source="Orphanet:251598", source="Orphanet:251598/ntbt"} xref: ICDO:9410/3 {source="NCIT:C4320"} xref: MESH:D001254 {source="MONDO:subClassOf", source="DOID:7008"} xref: NCIT:C4320 {source="DOID:7008", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:251598 {source="MONDO:equivalentTo"} xref: SCTID:55094006 {source="DOID:7008"} -xref: UMLS:C0334580 {source="NCIT:C4320", source="DOID:7008", source="MONDO:equivalentTo", source="ORDO:251598/e", source="Orphanet:251598"} +xref: UMLS:C0334580 {source="NCIT:C4320", source="DOID:7008", source="MONDO:equivalentTo", source="Orphanet:251598", source="Orphanet:251598/e"} is_a: MONDO:0016686 {source="NCIT:C4320", source="Orphanet:251598"} ! diffuse astrocytoma [Term] @@ -326687,15 +326528,15 @@ synonym: "diffuse astrocytoma" EXACT EXCLUDE [DOID:6726] synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726, NCIT:C4322] synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322] xref: DOID:6726 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251601/ntbt", source="Orphanet:251601"} +xref: ICD10CM:C71.9 {source="Orphanet:251601", source="Orphanet:251601/ntbt"} xref: ICDO:9420/3 {source="NCIT:C4322"} -xref: MedDRA:10065889 {source="Orphanet:251601", source="ORDO:251601/e"} +xref: MedDRA:10065889 {source="Orphanet:251601/e", source="Orphanet:251601"} xref: MESH:D001254 {source="MONDO:subClassOf", source="DOID:6726"} xref: NCIT:C4322 {source="MONDO:equivalentTo", source="DOID:6726"} xref: Orphanet:251601 {source="MONDO:equivalentTo"} xref: SCTID:253063006 {source="DOID:6726"} xref: SCTID:71314006 {source="DOID:6726"} -xref: UMLS:C0334582 {source="MONDO:equivalentTo", source="NCIT:C4322", source="DOID:6726", source="Orphanet:251601", source="ORDO:251601/e"} +xref: UMLS:C0334582 {source="Orphanet:251601/e", source="MONDO:equivalentTo", source="NCIT:C4322", source="DOID:6726", source="Orphanet:251601"} is_a: MONDO:0016686 {source="NCIT:C4322", source="Orphanet:251601"} ! diffuse astrocytoma [Term] @@ -326708,13 +326549,13 @@ synonym: "gemistocytic astrocytoma" EXACT [NCIT:C4321] synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [DOID:7005] synonym: "Gemistocytoma" EXACT [NCIT:C4321] xref: DOID:7005 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251604/ntbt", source="Orphanet:251604"} +xref: ICD10CM:C71.9 {source="Orphanet:251604/ntbt", source="Orphanet:251604"} xref: ICDO:9411/3 {source="NCIT:C4321"} xref: MESH:D001254 {source="DOID:7005", source="MONDO:subClassOf"} xref: NCIT:C4321 {source="DOID:7005", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:251604 {source="MONDO:equivalentTo"} xref: SCTID:73982001 {source="DOID:7005"} -xref: UMLS:C0334581 {source="DOID:7005", source="MONDO:equivalentTo", source="NCIT:C4321", source="ORDO:251604/e", source="Orphanet:251604"} +xref: UMLS:C0334581 {source="DOID:7005", source="Orphanet:251604/e", source="MONDO:equivalentTo", source="NCIT:C4321", source="Orphanet:251604"} is_a: MONDO:0016686 {source="NCIT:C4321", source="Orphanet:251604"} ! diffuse astrocytoma [Term] @@ -326728,14 +326569,14 @@ synonym: "PXA" EXACT ABBREVIATION [ONCOTREE:PXA, Orphanet:251607] xref: DOID:4852 {source="MONDO:equivalentTo"} xref: GARD:0010631 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.9 {source="Orphanet:251607"} -xref: ICD10CM:C79.1 {source="ORDO:251607/ntbt"} +xref: ICD10CM:C79.1 {source="Orphanet:251607/ntbt"} xref: ICDO:9424/3 {source="NCIT:C4323"} xref: NCIT:C4323 {source="DOID:4852", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PXA {source="MONDO:equivalentTo"} xref: Orphanet:251607 {source="MONDO:equivalentTo"} xref: SCTID:189924002 {source="DOID:4852"} xref: SCTID:78838008 {source="DOID:4852"} -xref: UMLS:C0334586 {source="Orphanet:251607", source="ORDO:251607/e", source="DOID:4852", source="MONDO:equivalentTo", source="NCIT:C4323"} +xref: UMLS:C0334586 {source="Orphanet:251607", source="DOID:4852", source="MONDO:equivalentTo", source="Orphanet:251607/e", source="NCIT:C4323"} is_a: MONDO:0016685 {source="Orphanet:251607"} ! low-grade astrocytoma is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C4323", source="indirect"} ! astrocytoma (excluding glioblastoma) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma xsd:anyURI {source="GARD:0010631"} @@ -326755,7 +326596,7 @@ synonym: "Piloid astrocytoma" EXACT [DOID:4851] xref: DOID:4851 {source="MONDO:equivalentTo"} xref: GARD:0009808 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:C71.9 {source="Orphanet:251612"} -xref: ICD10CM:C79.1 {source="ORDO:251612/ntbt"} +xref: ICD10CM:C79.1 {source="Orphanet:251612/ntbt"} xref: ICDO:9421/1 {source="NCIT:C4047"} xref: MESH:D001254 {source="MONDO:subClassOf", source="DOID:4851"} xref: NCIT:C4047 {source="DOID:4851", source="MONDO:equivalentTo"} @@ -326766,7 +326607,7 @@ xref: SCTID:189915006 {source="DOID:4851"} xref: SCTID:253064000 {source="DOID:4851"} xref: SCTID:67859002 {source="DOID:4851"} xref: SCTID:763865009 {source="MONDO:equivalentTo"} -xref: UMLS:C0334583 {source="DOID:4851", source="MONDO:equivalentTo", source="NCIT:C4047", source="Orphanet:251612", source="ORDO:251612/e"} +xref: UMLS:C0334583 {source="Orphanet:251612/e", source="DOID:4851", source="MONDO:equivalentTo", source="NCIT:C4047", source="Orphanet:251612"} is_a: MONDO:0016685 {source="MONDO:Redundant", source="Orphanet:251612"} ! low-grade astrocytoma is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C4047", source="indirect"} ! astrocytoma (excluding glioblastoma) is_a: MONDO:0021638 {source="MONDO:Redundant", source="NCIT:C4047", source="indirect"} ! low grade astrocytic tumor @@ -326778,13 +326619,13 @@ def: "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occ subset: ordo_histopathological_subtype {source="Orphanet:251615"} synonym: "PMA" RELATED ABBREVIATION [ONCOTREE:PMA] xref: DOID:4845 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251615/ntbt", source="Orphanet:251615"} +xref: ICD10CM:C71.9 {source="Orphanet:251615/ntbt", source="Orphanet:251615"} xref: ICDO:9425/3 {source="NCIT:C40315"} xref: NCIT:C40315 {source="MONDO:equivalentTo", source="DOID:4845", source="exact-label-match"} xref: ONCOTREE:PMA {source="MONDO:equivalentTo"} xref: Orphanet:251615 {source="MONDO:equivalentTo"} xref: SCTID:388600004 {source="DOID:4845"} -xref: UMLS:C1519086 {source="NCIT:C40315", source="MONDO:equivalentTo", source="DOID:4845", source="ORDO:251615/e", source="Orphanet:251615"} +xref: UMLS:C1519086 {source="NCIT:C40315", source="Orphanet:251615/e", source="MONDO:equivalentTo", source="DOID:4845", source="Orphanet:251615"} is_a: MONDO:0016691 {source="Orphanet:251615", source="not supported by NCIT"} ! pilocytic astrocytoma is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C40315", source="indirect"} ! astrocytoma (excluding glioblastoma) @@ -326800,14 +326641,14 @@ synonym: "subependymal giant cell astrocytic tumor" EXACT [NCIT:C3696] synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [DOID:5077] xref: DOID:5077 {source="MONDO:equivalentTo"} xref: GARD:0010632 {source="MONDO:equivalentTo"} -xref: ICD10CM:D43.2 {source="Orphanet:251618", source="ORDO:251618/ntbt"} +xref: ICD10CM:D43.2 {source="Orphanet:251618", source="Orphanet:251618/ntbt"} xref: ICDO:9384/1 {source="NCIT:C3696"} xref: MESH:D001254 {source="MONDO:subClassOf", source="DOID:5077"} xref: NCIT:C3696 {source="MONDO:equivalentTo", source="DOID:5077"} xref: Orphanet:251618 {source="MONDO:equivalentTo"} xref: SCTID:1586004 {source="DOID:5077"} xref: SCTID:449799008 {source="MONDO:equivalentTo", source="DOID:5077"} -xref: UMLS:C0205768 {source="Orphanet:251618", source="ORDO:251618/e", source="MONDO:equivalentTo", source="NCIT:C3696", source="DOID:5077"} +xref: UMLS:C0205768 {source="Orphanet:251618", source="MONDO:equivalentTo", source="Orphanet:251618/e", source="NCIT:C3696", source="DOID:5077"} is_a: MONDO:0007667 {source="DOID:5077"} ! subependymoma is_a: MONDO:0016685 {source="Orphanet:251618"} ! low-grade astrocytoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma xsd:anyURI {source="GARD:0010632"} @@ -326834,17 +326675,17 @@ synonym: "WHO grade II oligodendroglial tumor" EXACT [NCIT:C3288] xref: DOID:3181 {source="MONDO:equivalentTo"} xref: GARD:0009953 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:C71.9 {source="Orphanet:251627"} -xref: ICD10CM:C79.1 {source="ORDO:251627/ntbt"} +xref: ICD10CM:C79.1 {source="Orphanet:251627/ntbt"} xref: ICDO:9450/3 {source="NCIT:C3288"} -xref: MedDRA:10030286 {source="Orphanet:251627", source="ORDO:251627/e"} +xref: MedDRA:10030286 {source="Orphanet:251627/e", source="Orphanet:251627"} xref: MESH:D009837 {source="MONDO:equivalentTo", source="DOID:3181"} xref: NCIT:C3288 {source="ONCOTREE:ODG", source="MONDO:equivalentTo"} xref: NCIT:C6960 {source="MONDO:subClassOf", source="DOID:3181"} -xref: OMIM:137800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:251627/ntbt", source="Orphanet:251627"} -xref: OMIM:616568 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:251627/ntbt", source="Orphanet:251627"} +xref: OMIM:137800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:251627/ntbt", source="Orphanet:251627"} +xref: OMIM:616568 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:251627/ntbt", source="Orphanet:251627"} xref: ONCOTREE:ODG {source="MONDO:equivalentTo"} xref: Orphanet:251627 {source="MONDO:equivalentTo"} -xref: UMLS:C0028945 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3181", source="Orphanet:251627", source="ORDO:251627/e"} +xref: UMLS:C0028945 {source="Orphanet:251627/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:3181", source="Orphanet:251627"} xref: UMLS:C0751396 {source="ONCOTREE:ODG", source="NCIT:C3288", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1335110 {source="MONDO:subClassOf", source="DOID:3181"} is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C3288", source="Orphanet:251627"} ! oligodendroglial tumor @@ -326868,15 +326709,15 @@ synonym: "WHO grade III oligodendroglial tumor" EXACT [NCIT:C4326] xref: EFO:0002501 {source="MONDO:equivalentTo"} xref: GARD:0009472 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.9 {source="Orphanet:251630"} -xref: ICD10CM:C79.1 {source="ORDO:251630/ntbt"} +xref: ICD10CM:C79.1 {source="Orphanet:251630/ntbt"} xref: ICDO:9451/3 {source="NCIT:C4326"} -xref: MedDRA:10026659 {source="Orphanet:251630", source="ORDO:251630/e"} +xref: MedDRA:10026659 {source="Orphanet:251630", source="Orphanet:251630/e"} xref: NCIT:C4326 {source="MONDO:equivalentTo"} -xref: OMIM:137800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:251630/ntbt", source="Orphanet:251630"} -xref: OMIM:616568 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:251630/ntbt", source="Orphanet:251630"} +xref: OMIM:137800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:251630", source="Orphanet:251630/ntbt"} +xref: OMIM:616568 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:251630", source="Orphanet:251630/ntbt"} xref: ONCOTREE:AODG {source="MONDO:equivalentTo"} xref: Orphanet:251630 {source="MONDO:equivalentTo"} -xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="Orphanet:251630", source="ORDO:251630/e", source="NCIT:C4326"} +xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="Orphanet:251630", source="NCIT:C4326", source="Orphanet:251630/e"} is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C4326", source="Orphanet:251630"} ! oligodendroglial tumor is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4326"} ! grade III glioma intersection_of: MONDO:0018744 ! oligodendroglial tumor @@ -326888,7 +326729,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9472/anaplast id: MONDO:0016697 name: low grade ependymoma subset: ordo_disease {source="Orphanet:251633"} -xref: ICD10CM:D43.2 {source="ORDO:251633/ntbt", source="Orphanet:251633"} +xref: ICD10CM:D43.2 {source="Orphanet:251633/ntbt", source="Orphanet:251633"} xref: Orphanet:251633 {source="MONDO:equivalentTo"} xref: UMLS:CN201940 {source="MONDO:equivalentTo"} is_a: MONDO:0003266 {source="MONDO:Redundant", source="Orphanet:251633", source="indirect"} ! ependymal tumor @@ -326914,9 +326755,9 @@ synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017] synonym: "WHO grade II ependymal tumor" NARROW [DOID:4844, NCIT:C3017] xref: DOID:4844 {source="MONDO:equivalentTo"} xref: GARD:0006353 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D43.2 {source="Orphanet:251636", source="ORDO:251636/ntbt"} +xref: ICD10CM:D43.2 {source="Orphanet:251636/ntbt", source="Orphanet:251636"} xref: ICDO:9391/3 {source="NCIT:C3017"} -xref: MedDRA:10014967 {source="Orphanet:251636", source="ORDO:251636/e"} +xref: MedDRA:10014967 {source="Orphanet:251636/e", source="Orphanet:251636"} xref: MESH:D004806 {source="DOID:4844", source="MONDO:equivalentTo"} xref: NCIT:C3017 {source="ONCOTREE:EPM", source="DOID:4844", source="MONDO:equivalentTo"} xref: ONCOTREE:EPM {source="MONDO:equivalentTo"} @@ -326925,7 +326766,7 @@ xref: SCTID:189913004 {source="DOID:4844"} xref: SCTID:253066003 {source="DOID:4844"} xref: SCTID:443643007 {source="DOID:4844"} xref: SCTID:57706008 {source="DOID:4844"} -xref: UMLS:C0014474 {source="ONCOTREE:EPM", source="DOID:4844", source="MONDO:equivalentTo", source="NCIT:C3017", source="Orphanet:251636", source="ORDO:251636/e"} +xref: UMLS:C0014474 {source="ONCOTREE:EPM", source="Orphanet:251636/e", source="DOID:4844", source="MONDO:equivalentTo", source="NCIT:C3017", source="Orphanet:251636"} xref: UMLS:CN201941 {source="MONDO:equivalentTo"} is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3017", source="ONCOTREE:EPM", source="Orphanet:251636/inferred"} ! ependymal tumor is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3017"} ! grade II glioma @@ -326945,7 +326786,7 @@ synonym: "myxopapillary ependymoma" EXACT [DOID:5075, NCIT:C3697] synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [DOID:5075] xref: DOID:5075 {source="MONDO:equivalentTo"} xref: GARD:0010633 {source="MONDO:equivalentTo"} -xref: ICD10CM:D43.2 {source="ORDO:251643/ntbt", source="Orphanet:251643"} +xref: ICD10CM:D43.2 {source="Orphanet:251643", source="Orphanet:251643/ntbt"} xref: ICDO:9394/1 {source="NCIT:C3697"} xref: MESH:D004806 {source="DOID:5075", source="MONDO:directSiblingOf"} xref: NCIT:C3697 {source="MONDO:equivalentTo", source="DOID:5075"} @@ -326953,7 +326794,7 @@ xref: OMIM:137800 {source="MONDO:relatedTo", source="GARD:0010633"} xref: ONCOTREE:MPE {source="MONDO:equivalentTo"} xref: Orphanet:251643 {source="MONDO:equivalentTo"} xref: SCTID:1623000 {source="DOID:5075"} -xref: UMLS:C0205769 {source="MONDO:equivalentTo", source="NCIT:C3697", source="Orphanet:251643", source="ORDO:251643/e", source="DOID:5075"} +xref: UMLS:C0205769 {source="MONDO:equivalentTo", source="NCIT:C3697", source="Orphanet:251643", source="DOID:5075", source="Orphanet:251643/e"} is_a: MONDO:0003266 {source="NCIT:C3697", source="ONCOTREE:MPE", source="Orphanet:251643/inferred"} ! ependymal tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma xsd:anyURI {source="GARD:0010633"} @@ -326975,13 +326816,13 @@ synonym: "undifferentiated ependymoma" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal neoplasm" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal tumor" EXACT [NCIT:C4049] xref: GARD:0010634 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251646/ntbt", source="Orphanet:251646"} +xref: ICD10CM:C71.9 {source="Orphanet:251646/ntbt", source="Orphanet:251646"} xref: ICDO:9392/3 {source="NCIT:C4049"} -xref: MedDRA:10014968 {source="ORDO:251646/e", source="Orphanet:251646"} +xref: MedDRA:10014968 {source="Orphanet:251646/e", source="Orphanet:251646"} xref: NCIT:C4049 {source="MONDO:equivalentTo"} xref: ONCOTREE:APE {source="MONDO:equivalentTo"} xref: Orphanet:251646 {source="MONDO:equivalentTo"} -xref: UMLS:C0280788 {source="MONDO:equivalentTo", source="NCIT:C4049", source="ORDO:251646/e", source="Orphanet:251646"} +xref: UMLS:C0280788 {source="Orphanet:251646/e", source="MONDO:equivalentTo", source="NCIT:C4049", source="Orphanet:251646"} is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C4049", source="ONCOTREE:APE", source="Orphanet:251646"} ! ependymal tumor is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4049"} ! grade III glioma intersection_of: MONDO:0003266 ! ependymal tumor @@ -327019,15 +326860,15 @@ synonym: "WHO grade II mixed glioma" EXACT [DOID:7912, NCIT:C4050] xref: DOID:7912 {source="MONDO:equivalentTo"} xref: EFO:0000630 {source="MONDO:equivalentTo"} xref: GARD:0009769 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251656/ntbt", source="Orphanet:251656"} -xref: MedDRA:10027744 {source="Orphanet:251656", source="ORDO:251656/e"} +xref: ICD10CM:C71.9 {source="Orphanet:251656", source="Orphanet:251656/ntbt"} +xref: MedDRA:10027744 {source="Orphanet:251656/e", source="Orphanet:251656"} xref: MESH:D009837 {source="DOID:7912", source="MONDO:directSiblingOf"} xref: NCIT:C4050 {source="MONDO:equivalentTo", source="DOID:7912"} xref: ONCOTREE:OAST {source="MONDO:equivalentTo"} xref: Orphanet:251656 {source="MONDO:equivalentTo"} xref: SCTID:22217002 {source="DOID:7912"} xref: SCTID:716647001 {source="MONDO:equivalentTo"} -xref: UMLS:C0280793 {source="MONDO:equivalentTo", source="DOID:7912", source="Orphanet:251656", source="ORDO:251656/e", source="NCIT:C4050"} +xref: UMLS:C0280793 {source="Orphanet:251656/e", source="MONDO:equivalentTo", source="DOID:7912", source="Orphanet:251656", source="NCIT:C4050"} is_a: MONDO:0003268 {source="DOID:7912", source="MONDO:Redundant", source="NCIT:C4050", source="indirect", source="linkedlifedata"} ! mixed glioma is_a: MONDO:0016701 {source="Orphanet:251656"} ! oligoastrocytic tumor is_a: MONDO:0021639 {source="NCIT:C4050"} ! grade II glioma @@ -327046,11 +326887,11 @@ synonym: "AOAST" RELATED ABBREVIATION [ONCOTREE:AOAST] synonym: "WHO grade III mixed glioma" EXACT [NCIT:C6959] xref: EFO:0002500 {source="MONDO:equivalentTo"} xref: GARD:0010637 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251663/ntbt", source="Orphanet:251663"} +xref: ICD10CM:C71.9 {source="Orphanet:251663", source="Orphanet:251663/ntbt"} xref: NCIT:C6959 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:AOAST {source="MONDO:equivalentTo"} xref: Orphanet:251663 {source="MONDO:equivalentTo"} -xref: UMLS:C0431108 {source="MONDO:equivalentTo", source="Orphanet:251663", source="ORDO:251663/e", source="NCIT:C6959"} +xref: UMLS:C0431108 {source="MONDO:equivalentTo", source="Orphanet:251663", source="Orphanet:251663/e", source="NCIT:C6959"} is_a: MONDO:0003268 {source="MONDO:Redundant", source="NCIT:C6959", source="indirect"} ! mixed glioma is_a: MONDO:0016701 {source="Orphanet:251663"} ! oligoastrocytic tumor is_a: MONDO:0020633 {source="NCIT:C6959"} ! anaplastic cancer @@ -327080,12 +326921,12 @@ synonym: "angiocentric glioma (WHO grade I)" EXACT [NCIT:C92552] synonym: "angiocentric neuroepithelial tumor" EXACT [NCIT:C92552] synonym: "ANGL" RELATED ABBREVIATION [ONCOTREE:ANGL] synonym: "Monomorphus angiocentric glioma" EXACT [NCIT:C92552] -xref: ICD10CM:C71.9 {source="Orphanet:251671", source="ORDO:251671/ntbt"} +xref: ICD10CM:C71.9 {source="Orphanet:251671/ntbt", source="Orphanet:251671"} xref: ICDO:9431/1 {source="NCIT:C92552"} xref: NCIT:C92552 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:ANGL {source="MONDO:equivalentTo"} xref: Orphanet:251671 {source="MONDO:equivalentTo"} -xref: UMLS:C2363903 {source="ORDO:251671/e", source="Orphanet:251671", source="MONDO:equivalentTo", source="NCIT:C92552"} +xref: UMLS:C2363903 {source="Orphanet:251671", source="MONDO:equivalentTo", source="Orphanet:251671/e", source="NCIT:C92552"} is_a: MONDO:0021042 ! glioma is_a: MONDO:0021637 {source="NCIT:C92552"} ! low grade glioma @@ -327106,7 +326947,7 @@ synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location] xref: DOID:3773 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:3774 {source="MONDO:equivalentTo"} xref: GARD:0010636 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251674/ntbt", source="Orphanet:251674"} +xref: ICD10CM:C71.9 {source="Orphanet:251674", source="Orphanet:251674/ntbt"} xref: ICDO:9444/1 {source="NCIT:C5592"} xref: NCIT:C5592 {source="DOID:3773", source="DOID:3774", source="MONDO:equivalentTo", source="MONDO:superClassOf"} xref: ONCOTREE:CHGL {source="MONDO:equivalentTo"} @@ -327133,14 +326974,14 @@ synonym: "astroblastoma (morphologic abnormality)" EXACT [DOID:7305] synonym: "cerebral astroblastoma" RELATED [GARD:0010635] xref: DOID:7305 {source="MONDO:equivalentTo"} xref: GARD:0010635 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:251679/ntbt", source="Orphanet:251679"} +xref: ICD10CM:C71.9 {source="Orphanet:251679/ntbt", source="Orphanet:251679"} xref: ICDO:9430/3 {source="NCIT:C4324"} xref: MESH:D018302 {source="MONDO:subClassOf", source="DOID:7305"} xref: NCIT:C4324 {source="DOID:7305", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:ASTB {source="MONDO:equivalentTo"} xref: Orphanet:251679 {source="MONDO:equivalentTo"} xref: SCTID:48952003 {source="DOID:7305"} -xref: UMLS:C0334587 {source="DOID:7305", source="MONDO:equivalentTo", source="NCIT:C4324", source="ORDO:251679/e", source="Orphanet:251679"} +xref: UMLS:C0334587 {source="Orphanet:251679/e", source="DOID:7305", source="MONDO:equivalentTo", source="NCIT:C4324", source="Orphanet:251679"} is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4324", source="indirect"} ! glioma relationship: excluded_subClassOf MONDO:0019781 {source="DOID:7305"} ! astrocytoma (excluding glioblastoma) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10635/astroblastoma xsd:anyURI {source="GARD:0010635"} @@ -327163,7 +327004,7 @@ name: anaplastic/large cell medulloblastoma def: "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." [NCIT:C129436] subset: ordo_histopathological_subtype {source="Orphanet:251855"} synonym: "large cell/anaplastic medulloblastoma" EXACT [NCIT:C129436] -xref: ICD10CM:C71.6 {source="ORDO:251855/ntbt", source="Orphanet:251855"} +xref: ICD10CM:C71.6 {source="Orphanet:251855/ntbt", source="Orphanet:251855"} xref: NCIT:C129436 {source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C6904 {source="ONCOTREE:AMBL"} xref: ONCOTREE:AMBL {source="MONDO:equivalentTo"} @@ -327182,10 +327023,10 @@ synonym: "MBEN" EXACT ABBREVIATION [Orphanet:251858] synonym: "medulloblastoma with extensive nodularity" EXACT [NCIT:C5407] synonym: "medulloblastoma with extensive nodularity and advanced neuronal differentiation" EXACT [NCIT:C5407] synonym: "nodular medulloblastoma" EXACT [NCIT:C5407] -xref: ICD10CM:C71.6 {source="ORDO:251858/ntbt", source="Orphanet:251858"} +xref: ICD10CM:C71.6 {source="Orphanet:251858/ntbt", source="Orphanet:251858"} xref: ICDO:9471/3 {source="NCIT:C5407"} xref: NCIT:C5407 {source="MONDO:equivalentTo"} -xref: OMIM:155255 {source="MONDO:subClassOf", source="ORDO:251858/ntbt", source="Orphanet:251858"} +xref: OMIM:155255 {source="MONDO:subClassOf", source="Orphanet:251858/ntbt", source="Orphanet:251858"} xref: ONCOTREE:MBEN {source="MONDO:equivalentTo"} xref: Orphanet:251858 {source="MONDO:equivalentTo"} xref: UMLS:C1334970 {source="MONDO:equivalentTo", source="NCIT:C5407"} @@ -327203,14 +327044,14 @@ synonym: "desmoplastic medulloblastoma" EXACT [MONDO:0005547] synonym: "desmoplastic nodular medulloblastoma" EXACT [NCIT:C4956] synonym: "desmoplastic/nodular medulloblastoma" EXACT [NCIT:C4956] xref: EFO:0005699 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.6 {source="ORDO:251863/ntbt", source="Orphanet:251863"} +xref: ICD10CM:C71.6 {source="Orphanet:251863", source="Orphanet:251863/ntbt"} xref: ICDO:9471/3 {source="NCIT:C4956"} xref: NCIT:C4956 {source="EFO:0005699", source="MONDO:equivalentTo"} -xref: OMIM:155255 {source="MONDO:subClassOf", source="ORDO:251863/ntbt", source="Orphanet:251863"} +xref: OMIM:155255 {source="MONDO:subClassOf", source="Orphanet:251863", source="Orphanet:251863/ntbt"} xref: ONCOTREE:DMBL {source="MONDO:equivalentTo"} xref: Orphanet:251863 {source="MONDO:equivalentTo"} xref: SCTID:32456001 {source="EFO:0005699"} -xref: UMLS:C0751291 {source="MONDO:equivalentTo", source="Orphanet:251863", source="ORDO:251863/e", source="NCIT:C4956"} +xref: UMLS:C0751291 {source="MONDO:equivalentTo", source="Orphanet:251863", source="Orphanet:251863/e", source="NCIT:C4956"} is_a: MONDO:0007959 {source="EFO:0005699", source="NCIT:C4956", source="Orphanet:251863"} ! medulloblastoma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3139 property_value: confidence "2.5133333333333328" xsd:double @@ -327221,9 +327062,9 @@ name: classic medulloblastoma def: "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." [Orphanet:251867] subset: ordo_histopathological_subtype {source="Orphanet:251867"} synonym: "classic medulloblastoma" EXACT [NCIT:C54039] -xref: ICD10CM:C71.6 {source="Orphanet:251867", source="ORDO:251867/ntbt"} +xref: ICD10CM:C71.6 {source="Orphanet:251867/ntbt", source="Orphanet:251867"} xref: NCIT:C54039 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:155255 {source="MONDO:subClassOf", source="Orphanet:251867", source="ORDO:251867/ntbt"} +xref: OMIM:155255 {source="MONDO:subClassOf", source="Orphanet:251867/ntbt", source="Orphanet:251867"} xref: Orphanet:251867 {source="MONDO:equivalentTo"} xref: SCTID:699704002 {source="MONDO:equivalentTo"} xref: UMLS:C1707400 {source="MONDO:equivalentTo", source="NCIT:C54039"} @@ -327241,11 +327082,11 @@ synonym: "central nervous system Ewing sarcoma/peripheral primitive neuroectoder synonym: "central nervous system PNET" EXACT [Orphanet:251870] synonym: "central nervous system primitive neuroectodermal tumor" RELATED [Orphanet:251870] synonym: "CNS PNET" RELATED [Orphanet:251870] -xref: MedDRA:10057846 {source="Orphanet:251870", source="ORDO:251870/e"} +xref: MedDRA:10057846 {source="Orphanet:251870", source="Orphanet:251870/e"} xref: NCIT:C129537 {source="MONDO:equivalentTo"} xref: Orphanet:251870 {source="MONDO:equivalentTo"} xref: UMLS:C0206093 {source="Orphanet:251870", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0206663 {source="Orphanet:251870", source="ORDO:251870/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0206663 {source="Orphanet:251870", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:251870/e"} is_a: MONDO:0002714 {source="NCIT:C129537"} ! central nervous system cancer is_a: MONDO:0016708 {source="Orphanet:251870"} ! embryonal tumor of neuroepithelial tissue is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C129537"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor @@ -327276,8 +327117,8 @@ synonym: "neuroectodermal tumors primitive" RELATED [GARD:0006352] xref: DOID:0080903 {source="MONDO:equivalentTo"} xref: DOID:4794 {source="MONDO:equivalentObsolete"} xref: GARD:0006352 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="Orphanet:251880", source="ORDO:251880/ntbt"} -xref: MedDRA:10014966 {source="ORDO:251880/e", source="Orphanet:251880"} +xref: ICD10CM:C71.9 {source="Orphanet:251880/ntbt", source="Orphanet:251880"} +xref: MedDRA:10014966 {source="Orphanet:251880", source="Orphanet:251880/e"} xref: MESH:D018242 {source="DOID:4794"} xref: NCIT:C4915 {source="DOID:4794", source="MONDO:equivalentTo"} xref: ONCOTREE:ETANTR {source="MONDO:equivalentTo"} @@ -327285,7 +327126,7 @@ xref: Orphanet:251880 {source="MONDO:equivalentTo"} xref: SCTID:21589007 {source="DOID:4794"} xref: SCTID:253070006 {source="DOID:4794"} xref: SCTID:715901002 {source="MONDO:equivalentTo"} -xref: UMLS:C0700367 {source="DOID:4794", source="NCIT:C4915", source="ORDO:251880/e", source="Orphanet:251880", source="MONDO:equivalentTo"} +xref: UMLS:C0700367 {source="DOID:4794", source="NCIT:C4915", source="Orphanet:251880", source="MONDO:equivalentTo", source="Orphanet:251880/e"} is_a: MONDO:0000640 {source="DOID:4794"} ! central nervous system primitive neuroectodermal neoplasm is_a: MONDO:0016713 {source="Orphanet:251880"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor @@ -327313,7 +327154,7 @@ xref: NCIT:C3473 {source="DesignPattern", source="MONDO:equivalentTo"} xref: ONCOTREE:CPT {source="MONDO:equivalentTo"} xref: Orphanet:251896 {source="MONDO:equivalentTo"} xref: SCTID:254942002 {source="MONDO:equivalentTo"} -xref: UMLS:C0085138 {source="NCIT:C3473", source="MONDO:equivalentTo", source="Orphanet:251896", source="ORDO:251896/e"} +xref: UMLS:C0085138 {source="NCIT:C3473", source="MONDO:equivalentTo", source="Orphanet:251896", source="Orphanet:251896/e"} is_a: MONDO:0005560 {source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disorder is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3473/inferred"} ! central nervous system neoplasm is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3473/inferred"} ! brain neoplasm @@ -327341,19 +327182,19 @@ synonym: "malignant neoplasm of the choroid plexus" BROAD [DOID:5648, NCIT:C4533 synonym: "malignant tumor of choroid plexus" BROAD [DOID:5648] xref: DOID:5648 {source="MONDO:equivalentTo"} xref: GARD:0008238 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C71.7 {source="ORDO:251899/ntbt", source="Orphanet:251899"} +xref: ICD10CM:C71.7 {source="Orphanet:251899/ntbt", source="Orphanet:251899"} xref: ICDO:9390/3 {source="NCIT:C4715"} -xref: MedDRA:10067478 {source="ORDO:251899/e", source="Orphanet:251899"} +xref: MedDRA:10067478 {source="Orphanet:251899/e", source="Orphanet:251899"} xref: MESH:C562943 {source="MONDO:equivalentTo", source="DOID:5648"} xref: NCIT:C4533 {source="MONDO:subClassOf", source="DOID:5648"} xref: NCIT:C4715 {source="MONDO:equivalentTo", source="DOID:5648"} -xref: OMIM:260500 {source="MONDO:subClassOf", source="ORDO:251899/ntbt", source="MONDO:directSiblingOf", source="Orphanet:251899"} +xref: OMIM:260500 {source="MONDO:subClassOf", source="Orphanet:251899/ntbt", source="MONDO:directSiblingOf", source="Orphanet:251899"} xref: ONCOTREE:CPC {source="MONDO:equivalentTo"} xref: Orphanet:251899 {source="MONDO:equivalentTo"} xref: SCTID:188292007 {source="MONDO:equivalentTo", source="DOID:5648"} xref: SCTID:88252006 {source="DOID:5648"} xref: UMLS:C0346289 {source="MONDO:notFoundInDiseaseSubset", source="DOID:5648"} -xref: UMLS:C0431109 {source="MONDO:notFoundInDiseaseSubset", source="DOID:5648", source="ORDO:251899/e", source="Orphanet:251899", source="NCIT:C4715"} +xref: UMLS:C0431109 {source="Orphanet:251899/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:5648", source="Orphanet:251899", source="NCIT:C4715"} is_a: MONDO:0002681 {source="DOID:5648", source="MONDO:Redundant", source="NCIT:C4715"} ! choroid plexus cancer is_a: MONDO:0004993 {source="DOID:5648", source="MESH:C562943", source="MONDO:Redundant", source="NCIT:C4715/inferred"} ! carcinoma is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C4715/inferred", source="ONCOTREE:CPC", source="OWLReasoner:2017", source="Orphanet:251899", source="indirect", source="linkedlifedata"} ! choroid plexus neoplasm @@ -327371,10 +327212,10 @@ synonym: "microcephaly seizures mental retardation heart disorders" RELATED DEPR synonym: "microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities" RELATED [GARD:0003632] synonym: "microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" RELATED DEPRECATED [GARD:0003632] xref: GARD:0003632 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2519", source="ORDO:2519/attributed", source="ORDO:2519/ntbt"} -xref: MESH:C537544 {source="MONDO:equivalentTo", source="Orphanet:2519", source="ORDO:2519/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2519/attributed", source="Orphanet:2519/ntbt", source="Orphanet:2519"} +xref: MESH:C537544 {source="Orphanet:2519/e", source="MONDO:equivalentTo", source="Orphanet:2519"} xref: Orphanet:2519 {source="MONDO:equivalentTo"} -xref: UMLS:C2931529 {source="MONDO:equivalentTo", source="Orphanet:2519", source="ORDO:2519/e"} +xref: UMLS:C2931529 {source="Orphanet:2519/e", source="MONDO:equivalentTo", source="Orphanet:2519"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2519", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -327420,15 +327261,15 @@ synonym: "primitive neuroectodermal tumor of the pineal gland" EXACT [NCIT:C9344 xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"} xref: EFO:1000475 {source="MONDO:equivalentTo"} xref: GARD:0009369 {source="MONDO:equivalentTo"} -xref: ICD10CM:C75.3 {source="ORDO:251909/ntbt", source="Orphanet:251909"} +xref: ICD10CM:C75.3 {source="Orphanet:251909", source="Orphanet:251909/ntbt"} xref: ICDO:9362/3 {source="NCIT:C9344"} -xref: MedDRA:10050487 {source="ORDO:251909/e", source="Orphanet:251909"} +xref: MedDRA:10050487 {source="Orphanet:251909", source="Orphanet:251909/e"} xref: MESH:D010871 {source="DOID:1664", source="EFO:1000475"} xref: NCIT:C9344 {source="MONDO:equivalentTo", source="DOID:1664", source="EFO:1000475"} xref: ONCOTREE:PBL {source="MONDO:equivalentTo"} xref: Orphanet:251909 {source="MONDO:equivalentTo"} xref: SCTID:31671006 {source="DOID:1664"} -xref: UMLS:C0205898 {source="NCIT:C9344", source="ORDO:251909/e", source="MONDO:equivalentTo", source="DOID:1664", source="Orphanet:251909"} +xref: UMLS:C0205898 {source="NCIT:C9344", source="MONDO:equivalentTo", source="DOID:1664", source="Orphanet:251909", source="Orphanet:251909/e"} is_a: MONDO:0003249 {source="DOID:1664", source="NCIT:C9344"} ! pineal gland cancer is_a: MONDO:0005564 {source="EFO:1000475", source="MONDO:Redundant", source="NCIT:C9344/inferred"} ! embryonal neoplasm is_a: MONDO:0016721 {source="Orphanet:251909"} ! pineal tumor of neuroepithelial tissue @@ -327448,14 +327289,14 @@ synonym: "pineocytoma, benign" EXACT [NCIT:C6966] xref: EFO:1000476 {source="MONDO:equivalentTo"} xref: GARD:0008207 {source="MONDO:equivalentTo"} xref: HP:0030407 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D44.5 {source="ORDO:251912/ntbt", source="Orphanet:251912"} +xref: ICD10CM:D44.5 {source="Orphanet:251912/ntbt", source="Orphanet:251912"} xref: ICDO:9361/1 {source="NCIT:C6966"} -xref: MedDRA:10035059 {source="ORDO:251912/e", source="Orphanet:251912"} +xref: MedDRA:10035059 {source="Orphanet:251912/e", source="Orphanet:251912"} xref: NCIT:C6966 {source="EFO:1000476", source="MONDO:equivalentTo"} xref: ONCOTREE:PINC {source="MONDO:equivalentTo"} xref: Orphanet:251912 {source="MONDO:equivalentTo"} xref: SCTID:255045009 {source="MONDO:equivalentTo"} -xref: UMLS:C0917890 {source="MONDO:equivalentTo", source="NCIT:C6966", source="ORDO:251912/e", source="Orphanet:251912"} +xref: UMLS:C0917890 {source="Orphanet:251912/e", source="MONDO:equivalentTo", source="NCIT:C6966", source="Orphanet:251912"} is_a: MONDO:0000627 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign endocrine neoplasm is_a: MONDO:0016721 {source="Orphanet:251912"} ! pineal tumor of neuroepithelial tissue is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C6966/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of brain @@ -327470,12 +327311,12 @@ def: "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the subset: ordo_disease {source="Orphanet:251915"} synonym: "PTPR" EXACT ABBREVIATION [ONCOTREE:PTPR, Orphanet:251915] xref: EFO:1000451 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.5 {source="Orphanet:251915", source="ORDO:251915/ntbt"} +xref: ICD10CM:D44.5 {source="Orphanet:251915", source="Orphanet:251915/ntbt"} xref: ICDO:9395/3 {source="NCIT:C92624"} xref: NCIT:C92624 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PTPR {source="MONDO:equivalentTo"} xref: Orphanet:251915 {source="MONDO:equivalentTo"} -xref: UMLS:C2985219 {source="Orphanet:251915", source="ORDO:251915/e", source="NCIT:C92624", source="MONDO:equivalentTo"} +xref: UMLS:C2985219 {source="Orphanet:251915", source="NCIT:C92624", source="MONDO:equivalentTo", source="Orphanet:251915/e"} is_a: MONDO:0016721 {source="Orphanet:251915"} ! pineal tumor of neuroepithelial tissue is_a: MONDO:0021193 {source="MONDO:Redundant", source="NCIT:C92624", source="indirect"} ! neuroepithelial neoplasm is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C92624", source="ONCOTREE:PTPR", source="indirect"} ! pineal body neoplasm @@ -327485,7 +327326,7 @@ id: MONDO:0016725 name: pineal parenchymal tumor of intermediate differenciation def: "Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity." [Orphanet:251919] subset: ordo_disease {source="Orphanet:251919"} -xref: ICD10CM:D44.5 {source="Orphanet:251919", source="ORDO:251919/ntbt"} +xref: ICD10CM:D44.5 {source="Orphanet:251919/ntbt", source="Orphanet:251919"} xref: Orphanet:251919 {source="MONDO:equivalentTo"} xref: UMLS:CN201973 {source="MONDO:equivalentTo"} is_a: MONDO:0016721 {source="Orphanet:251919"} ! pineal tumor of neuroepithelial tissue @@ -327549,7 +327390,7 @@ subset: ordo_disease {source="Orphanet:251937"} synonym: "GNC" RELATED ABBREVIATION [ONCOTREE:GNC] xref: DOID:2426 {source="MONDO:equivalentTo"} xref: GARD:0010638 {source="MONDO:equivalentTo"} -xref: ICD10CM:D36.1 {source="Orphanet:251937", source="ORDO:251937/ntbt"} +xref: ICD10CM:D36.1 {source="Orphanet:251937", source="Orphanet:251937/ntbt"} xref: ICDO:9492/0 {source="NCIT:C6934"} xref: MESH:D005729 {source="MONDO:equivalentTo", source="DOID:2426"} xref: MESH:D018305 {source="GARD:0010638"} @@ -327597,7 +327438,7 @@ xref: DOID:5078 {source="MONDO:equivalentTo"} xref: EFO:0003094 {source="MONDO:equivalentTo"} xref: GARD:0002430 {source="MONDO:equivalentTo"} xref: ICDO:9505/1 {source="NCIT:C3788"} -xref: MedDRA:10017701 {source="ORDO:251949/e", source="Orphanet:251949"} +xref: MedDRA:10017701 {source="Orphanet:251949", source="Orphanet:251949/e"} xref: MESH:D018303 {source="MONDO:equivalentTo", source="DOID:5078"} xref: NCIT:C27362 {source="DOID:5078"} xref: NCIT:C27363 {source="DOID:5078"} @@ -327606,7 +327447,7 @@ xref: ONCOTREE:GNG {source="MONDO:equivalentTo"} xref: Orphanet:251949 {source="MONDO:equivalentTo"} xref: SCTID:87191000119100 {source="MONDO:equivalentTo", source="DOID:5078"} xref: SCTID:89880005 {source="DOID:5078"} -xref: UMLS:C0206716 {source="ORDO:251949/e", source="Orphanet:251949", source="MONDO:equivalentTo", source="NCIT:C3788", source="DOID:5078"} +xref: UMLS:C0206716 {source="Orphanet:251949", source="MONDO:equivalentTo", source="Orphanet:251949/e", source="NCIT:C3788", source="DOID:5078"} xref: UMLS:C1332202 {source="MONDO:notFoundInDiseaseSubset", source="DOID:5078"} xref: UMLS:C1332969 {source="MONDO:notFoundInDiseaseSubset", source="DOID:5078"} is_a: MONDO:0016729 {source="NCIT:C3788", source="Orphanet:251949"} ! mixed neuronal-glial tumor @@ -327625,7 +327466,7 @@ xref: ICDO:9505/3 {source="NCIT:C4717"} xref: NCIT:C4717 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:AGNG {source="MONDO:equivalentTo"} xref: Orphanet:251957 {source="MONDO:equivalentTo"} -xref: UMLS:C0431112 {source="NCIT:C4717", source="MONDO:equivalentTo", source="Orphanet:251957", source="ORDO:251957/e"} +xref: UMLS:C0431112 {source="NCIT:C4717", source="Orphanet:251957/e", source="MONDO:equivalentTo", source="Orphanet:251957"} is_a: MONDO:0016729 {source="NCIT:C4717", source="Orphanet:251957"} ! mixed neuronal-glial tumor intersection_of: MONDO:0016733 ! ganglioglioma intersection_of: has_modifier PATO:0002092 ! anaplastic @@ -327645,7 +327486,7 @@ xref: ICDO:9509/1 {source="NCIT:C92554"} xref: NCIT:C92554 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PGNT {source="MONDO:equivalentTo"} xref: Orphanet:251962 {source="MONDO:equivalentTo"} -xref: UMLS:C2985174 {source="NCIT:C92554", source="MONDO:equivalentTo", source="Orphanet:251962", source="ORDO:251962/e"} +xref: UMLS:C2985174 {source="NCIT:C92554", source="MONDO:equivalentTo", source="Orphanet:251962", source="Orphanet:251962/e"} is_a: MONDO:0016729 {source="NCIT:C92554", source="Orphanet:251962"} ! mixed neuronal-glial tumor relationship: has_modifier MONDO:0024491 {source="NCIT:C92554"} ! tumor grade 1, general grading system @@ -327777,12 +327618,12 @@ synonym: "tumor of meningeal cluster" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of meninges" EXACT [NCIT:C3229] synonym: "tumor of the meninges" EXACT [NCIT:C3229] xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10061282 {source="ORDO:252025/e", source="Orphanet:252025"} +xref: MedDRA:10061282 {source="Orphanet:252025", source="Orphanet:252025/e"} xref: NCIT:C3229 {source="DesignPattern", source="MONDO:equivalentTo"} xref: ONCOTREE:MNGT {source="MONDO:equivalentTo"} xref: Orphanet:252025 {source="MONDO:equivalentTo"} xref: SCTID:126965008 {source="DesignPattern", source="MONDO:equivalentTo"} -xref: UMLS:C0025284 {source="ORDO:252025/e", source="MONDO:equivalentTo", source="Orphanet:252025", source="NCIT:C3229"} +xref: UMLS:C0025284 {source="MONDO:equivalentTo", source="Orphanet:252025", source="Orphanet:252025/e", source="NCIT:C3229"} is_a: MONDO:0021248 {source="Orphanet:252025"} ! nervous system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster @@ -327826,7 +327667,7 @@ xref: NCIT:C4662 {source="DOID:5900", source="MONDO:equivalentTo"} xref: Orphanet:252046 {source="MONDO:equivalentTo"} xref: SCTID:128730009 {source="DOID:5900"} xref: SCTID:277527003 {source="DOID:5900", source="MONDO:equivalentTo"} -xref: UMLS:C1266113 {source="Orphanet:252046", source="ORDO:252046/e", source="DOID:5900", source="MONDO:equivalentTo", source="NCIT:C4662"} +xref: UMLS:C1266113 {source="Orphanet:252046", source="DOID:5900", source="MONDO:equivalentTo", source="NCIT:C4662", source="Orphanet:252046/e"} is_a: MONDO:0003222 {source="DOID:5900", source="NCIT:C4662/inferred", source="linkedlifedata"} ! central nervous system melanocytic neoplasm is_a: MONDO:0016744 {source="Orphanet:252046"} ! primary melanocytic tumor of central nervous system @@ -327874,16 +327715,16 @@ synonym: "hemangioblastoma" EXACT [NCIT:C3801] synonym: "HMBL" RELATED ABBREVIATION [ONCOTREE:HMBL] xref: DOID:5241 {source="MONDO:equivalentTo"} xref: GARD:0008232 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D33.4 {source="MONDO:relatedTo", source="Orphanet:252054", source="ORDO:252054/btnt"} -xref: ICD10CM:D33.7 {source="Orphanet:252054", source="ORDO:252054/btnt"} +xref: ICD10CM:D33.4 {source="Orphanet:252054/btnt", source="MONDO:relatedTo", source="Orphanet:252054"} +xref: ICD10CM:D33.7 {source="Orphanet:252054/btnt", source="Orphanet:252054"} xref: ICDO:9161/1 {source="NCIT:C3801"} -xref: MedDRA:10018813 {source="ORDO:252054/e", source="Orphanet:252054"} +xref: MedDRA:10018813 {source="Orphanet:252054", source="Orphanet:252054/e"} xref: MESH:D018325 {source="MONDO:equivalentTo", source="DOID:5241"} xref: NCIT:C3801 {source="MONDO:equivalentTo", source="DOID:5241", source="exact-label-match"} xref: ONCOTREE:HMBL {source="MONDO:equivalentTo"} xref: Orphanet:252054 {source="MONDO:equivalentTo"} xref: SCTID:81201000 {source="DOID:5241"} -xref: UMLS:C0206734 {source="ORDO:252054/e", source="Orphanet:252054", source="MONDO:equivalentTo", source="DOID:5241", source="NCIT:C3801"} +xref: UMLS:C0206734 {source="Orphanet:252054", source="MONDO:equivalentTo", source="Orphanet:252054/e", source="DOID:5241", source="NCIT:C3801"} is_a: MONDO:0002407 {source="DOID:5241", source="MESH:D018325"} ! capillary hemangioma is_a: MONDO:0021248 {source="MONDO:Entailed", source="Orphanet:252054"} ! nervous system neoplasm relationship: has_modifier MONDO:0021136 {source="MONDO:0020036"} ! rare @@ -327911,11 +327752,11 @@ synonym: "Halal syndrome" EXACT [Orphanet:2521] synonym: "microcephaly cleft palate autosomal dominant" RELATED [GARD:0008623] synonym: "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" RELATED [Orphanet:2521] xref: GARD:0008623 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2521", source="ORDO:2521/attributed", source="ORDO:2521/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2521/attributed", source="Orphanet:2521/ntbt", source="Orphanet:2521"} xref: MESH:C535622 {source="MONDO:equivalentTo"} xref: Orphanet:2521 {source="MONDO:equivalentTo"} xref: SCTID:719394002 {source="MONDO:equivalentTo"} -xref: UMLS:C2930954 {source="ORDO:2521/e", source="Orphanet:2521", source="MONDO:equivalentTo"} +xref: UMLS:C2930954 {source="Orphanet:2521", source="MONDO:equivalentTo", source="Orphanet:2521/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2521", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2521"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015335 {source="Orphanet:2521"} ! orofacial clefting syndrome @@ -327933,7 +327774,7 @@ xref: ICDO:9571/3 {source="NCIT:C66845"} xref: NCIT:C66845 {source="MONDO:equivalentTo"} xref: Orphanet:252128 {source="MONDO:equivalentTo"} xref: SCTID:761958009 {source="MONDO:equivalentTo"} -xref: UMLS:C1266188 {source="MONDO:equivalentTo", source="ORDO:252128/e", source="Orphanet:252128", source="NCIT:C66845"} +xref: UMLS:C1266188 {source="Orphanet:252128/e", source="MONDO:equivalentTo", source="Orphanet:252128", source="NCIT:C66845"} is_a: MONDO:0019404 {source="MONDO:Redundant", source="Orphanet:252128"} ! perineurioma is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C66845/inferred"} ! peripheral nervous system cancer intersection_of: MONDO:0019404 ! perineurioma @@ -327979,7 +327820,7 @@ xref: EFO:0000622 {source="MONDO:equivalentTo"} xref: GARD:0007191 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9540/0 {source="NCIT:C3272"} -xref: MedDRA:10029267 {source="Orphanet:252183", source="ORDO:252183/e"} +xref: MedDRA:10029267 {source="Orphanet:252183/e", source="Orphanet:252183"} xref: MESH:D009455 {source="DOID:962", source="MONDO:equivalentTo"} xref: NCIT:C3272 {source="DOID:962", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:NFIB {source="MONDO:equivalentTo"} @@ -327989,7 +327830,7 @@ xref: SCTID:134214003 {source="DOID:962"} xref: SCTID:189947001 {source="DOID:962"} xref: SCTID:404029005 {source="DOID:962", source="MONDO:equivalentTo"} xref: SCTID:89084002 {source="DOID:962"} -xref: UMLS:C0027830 {source="DOID:962", source="NCIT:C3272", source="MONDO:equivalentTo", source="Orphanet:252183", source="ORDO:252183/e"} +xref: UMLS:C0027830 {source="DOID:962", source="NCIT:C3272", source="Orphanet:252183/e", source="MONDO:equivalentTo", source="Orphanet:252183"} is_a: MONDO:0001406 {source="DOID:962/inferred", source="MESH:D009455/inferred", source="MONDO:Redundant", source="NCIT:C3272", source="ONCOTREE:NFIB/inferred"} ! peripheral nervous system neoplasm is_a: MONDO:0002547 {source="DOID:962", source="MESH:D009455", source="NCIT:C3272", source="ONCOTREE:NFIB"} ! nerve sheath neoplasm is_a: MONDO:0016752 {source="Orphanet:252183"} ! benign peripheral nerve sheath tumor @@ -328031,7 +327872,7 @@ xref: Orphanet:252212 {source="MONDO:equivalentTo"} xref: SCTID:189951004 {source="DOID:6707"} xref: SCTID:354002 {source="DOID:6707"} xref: SCTID:404040002 {source="MONDO:equivalentTo", source="DOID:6707"} -xref: UMLS:C0334616 {source="ORDO:252212/e", source="MONDO:equivalentTo", source="Orphanet:252212", source="NCIT:C4335", source="DOID:6707"} +xref: UMLS:C0334616 {source="MONDO:equivalentTo", source="Orphanet:252212", source="NCIT:C4335", source="DOID:6707", source="Orphanet:252212/e"} is_a: MONDO:0017827 {source="DOID:6707", source="NCIT:C4335/inferred", source="Orphanet:252212", source="linkedlifedata"} ! malignant peripheral nerve sheath tumor [Term] @@ -328044,7 +327885,7 @@ synonym: "Franek-Bocker-Kahlen syndrome" EXACT [GARD:0003607, Orphanet:2523] synonym: "microcephaly - brain defect - spasticity - hypernatremia" RELATED [GARD:0003607] synonym: "microcephaly brain defect spasticity hypernatremia" RELATED [GARD:0003607] xref: GARD:0003607 {source="MONDO:equivalentTo"} -xref: ICD10CM:G98 {source="ORDO:2523/attributed", source="ORDO:2523/ntbt", source="Orphanet:2523"} +xref: ICD10CM:G98 {source="Orphanet:2523", source="Orphanet:2523/attributed", source="Orphanet:2523/ntbt"} xref: Orphanet:2523 {source="MONDO:equivalentTo", source="GARD:0003607"} xref: UMLS:CN202009 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:2523"} ! syndromic disease @@ -328059,17 +327900,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:2524"} synonym: "PCH2" EXACT ABBREVIATION [Orphanet:2524] synonym: "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy" RELATED [GARD:0010705] xref: GARD:0010705 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="ORDO:2524/attributed", source="ORDO:2524/ntbt", source="Orphanet:2524"} -xref: MESH:C548070 {source="MONDO:equivalentTo", source="Orphanet:2524", source="ORDO:2524/e"} +xref: ICD10CM:Q04.3 {source="Orphanet:2524", source="Orphanet:2524/attributed", source="Orphanet:2524/ntbt"} +xref: MESH:C548070 {source="MONDO:equivalentTo", source="Orphanet:2524", source="Orphanet:2524/e"} xref: NCIT:C124057 {source="MONDO:equivalentTo"} -xref: OMIM:277470 {source="ORDO:2524/btnt", source="Orphanet:2524", source="MONDO:superClassOf"} -xref: OMIM:612389 {source="ORDO:2524/btnt", source="Orphanet:2524", source="MONDO:superClassOf"} -xref: OMIM:612390 {source="ORDO:2524/btnt", source="Orphanet:2524", source="MONDO:superClassOf"} -xref: OMIM:613811 {source="ORDO:2524/btnt", source="Orphanet:2524", source="MONDO:superClassOf"} -xref: OMIM:617026 {source="ORDO:2524/btnt", source="Orphanet:2524", source="MONDO:superClassOf"} +xref: OMIM:277470 {source="Orphanet:2524", source="MONDO:superClassOf", source="Orphanet:2524/btnt"} +xref: OMIM:612389 {source="Orphanet:2524", source="MONDO:superClassOf", source="Orphanet:2524/btnt"} +xref: OMIM:612390 {source="Orphanet:2524", source="MONDO:superClassOf", source="Orphanet:2524/btnt"} +xref: OMIM:613811 {source="Orphanet:2524", source="MONDO:superClassOf", source="Orphanet:2524/btnt"} +xref: OMIM:617026 {source="Orphanet:2524", source="MONDO:superClassOf", source="Orphanet:2524/btnt"} xref: Orphanet:2524 {source="MONDO:equivalentTo"} xref: SCTID:715463008 {source="MONDO:equivalentTo"} -xref: UMLS:C2932714 {source="MONDO:equivalentTo", source="NCIT:C124057", source="Orphanet:2524", source="ORDO:2524/e"} +xref: UMLS:C2932714 {source="MONDO:equivalentTo", source="NCIT:C124057", source="Orphanet:2524", source="Orphanet:2524/e"} is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0020135 {source="Orphanet:2524", source="linkedlifedata"} ! pontocerebellar hypoplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 xsd:anyURI {source="GARD:0010705"} @@ -328085,13 +327926,13 @@ synonym: "Seemanova Lesny syndrome" RELATED [GARD:0003627] synonym: "Seemanova-Lesny syndrome" EXACT [Orphanet:2528] synonym: "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation" RELATED [GARD:0003627] xref: GARD:0003627 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2528/attributed", source="ORDO:2528/ntbt", source="Orphanet:2528"} -xref: MESH:C537536 {source="Orphanet:2528", source="ORDO:2528/e"} -xref: MESH:C537539 {source="MONDO:equivalentTo", source="Orphanet:2528", source="ORDO:2528/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:2528", source="Orphanet:2528/attributed", source="Orphanet:2528/ntbt"} +xref: MESH:C537536 {source="Orphanet:2528/e", source="Orphanet:2528"} +xref: MESH:C537539 {source="Orphanet:2528/e", source="MONDO:equivalentTo", source="Orphanet:2528"} xref: Orphanet:2528 {source="MONDO:equivalentTo"} xref: SCTID:715464002 {source="MONDO:equivalentTo"} -xref: UMLS:C0796151 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2528", source="ORDO:2528/e"} -xref: UMLS:C2931524 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2528", source="ORDO:2528/e"} +xref: UMLS:C0796151 {source="Orphanet:2528/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2528"} +xref: UMLS:C2931524 {source="Orphanet:2528/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2528"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2528", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2528"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019117 ! genetic nervous system disorder @@ -328112,13 +327953,13 @@ synonym: "spondyloepiphyseal dysplasia" EXACT CLINGEN_PREFERRED [] synonym: "spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia" EXACT [Orphanet:253] xref: DOID:0080027 {source="MONDO:equivalentTo"} xref: GARD:0007687 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.7 {source="ORDO:253/e", source="ORDO:253/specific", source="Orphanet:253"} +xref: ICD10CM:Q77.7 {source="Orphanet:253/specific", source="Orphanet:253/e", source="Orphanet:253"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062920 {source="ORDO:253/e", source="Orphanet:253"} +xref: MedDRA:10062920 {source="Orphanet:253/e", source="Orphanet:253"} xref: Orphanet:252 {source="MONDO:equivalentObsolete"} xref: Orphanet:253 {source="MONDO:equivalentTo"} xref: SCTID:254062008 {source="MONDO:equivalentTo"} -xref: UMLS:C0038015 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:253/e", source="Orphanet:253"} +xref: UMLS:C0038015 {source="Orphanet:253/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:253"} is_a: MONDO:0005516 {source="DOID:0080027"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:253"} ! primary bone dysplasia @@ -328129,10 +327970,10 @@ def: "Microcornea-corectopia-macular hypoplasia syndrome is characterised by mic subset: ordo_malformation_syndrome {source="Orphanet:2535"} synonym: "microcornea corectopia macular hypoplasia" RELATED [GARD:0003636] xref: GARD:0003636 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q15.8 {source="ORDO:2535/attributed", source="ORDO:2535/ntbt", source="Orphanet:2535"} -xref: MESH:C537551 {source="MONDO:equivalentTo", source="Orphanet:2535", source="ORDO:2535/e"} +xref: ICD10CM:Q15.8 {source="Orphanet:2535", source="Orphanet:2535/attributed", source="Orphanet:2535/ntbt"} +xref: MESH:C537551 {source="MONDO:equivalentTo", source="Orphanet:2535", source="Orphanet:2535/e"} xref: Orphanet:2535 {source="MONDO:equivalentObsolete"} -xref: UMLS:C2931531 {source="MONDO:equivalentTo", source="Orphanet:2535", source="ORDO:2535/e"} +xref: UMLS:C2931531 {source="MONDO:equivalentTo", source="Orphanet:2535", source="Orphanet:2535/e"} is_a: MONDO:0005328 {source="GARD:0003636"} ! eye disorder [Term] @@ -328142,7 +327983,7 @@ def: "Spondylometaphyseal dysplasias are a heterogeneous group of disorders asso subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254"} synonym: "spondylometaphyseal dysplasia" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q77.8 {source="ORDO:254/attributed", source="ORDO:254/ntbt", source="Orphanet:254"} +xref: ICD10CM:Q77.8 {source="Orphanet:254/attributed", source="Orphanet:254/ntbt", source="Orphanet:254"} xref: OMIMPS:184255 {source="MONDO:equivalentTo"} xref: Orphanet:254 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:254"} ! primary bone dysplasia @@ -328163,17 +328004,17 @@ synonym: "microphthalmia-anophthalmia-coloboma spectrum" EXACT [Orphanet:2542] synonym: "nonsyndromic anophthalmia-microphthalmia syndrome" EXACT [MONDO:patterns/isolated] synonym: "primitive anophthalmia" RELATED [GARD:0012085] xref: GARD:0012085 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q11.0 {source="ORDO:2542/specific", source="Orphanet:2542", source="ORDO:2542/btnt"} -xref: ICD10CM:Q11.1 {source="ORDO:2542/specific", source="Orphanet:2542", source="ORDO:2542/btnt"} -xref: ICD10CM:Q11.2 {source="ORDO:2542/specific", source="Orphanet:2542", source="ORDO:2542/btnt"} -xref: OMIM:156850 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} -xref: OMIM:251600 {source="Orphanet:2542", source="MONDO:relatedTo", source="ORDO:2542/e", source="MONDO:superClassOf"} -xref: OMIM:610093 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} -xref: OMIM:611038 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} -xref: OMIM:613094 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} -xref: OMIM:613517 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} -xref: OMIM:613704 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} -xref: OMIM:615113 {source="Orphanet:2542", source="MONDO:superClassOf", source="ORDO:2542/btnt"} +xref: ICD10CM:Q11.0 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"} +xref: ICD10CM:Q11.1 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"} +xref: ICD10CM:Q11.2 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"} +xref: OMIM:156850 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} +xref: OMIM:251600 {source="Orphanet:2542", source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:2542/e"} +xref: OMIM:610093 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} +xref: OMIM:611038 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} +xref: OMIM:613094 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} +xref: OMIM:613517 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} +xref: OMIM:613704 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} +xref: OMIM:615113 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="MONDO:superClassOf"} xref: Orphanet:2542 {source="MONDO:equivalentTo"} xref: UMLS:CN202019 {source="MONDO:equivalentTo"} is_a: MONDO:0015217 {source="MONDO:Redundant", source="Orphanet:2542"} ! non-syndromic developmental defect of the eye @@ -328192,7 +328033,7 @@ synonym: "Chromosome19p13.12 microdeletion" RELATED [GARD:0010991] synonym: "Del(19)(p13.12)" EXACT [Orphanet:254346] synonym: "monosomy 19p13.12" EXACT [Orphanet:254346] xref: GARD:0010991 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:254346/attributed", source="ORDO:254346/ntbt", source="Orphanet:254346"} +xref: ICD10CM:Q93.5 {source="Orphanet:254346", source="Orphanet:254346/attributed", source="Orphanet:254346/ntbt"} xref: Orphanet:254346 {source="MONDO:equivalentTo"} xref: SCTID:719597005 {source="MONDO:equivalentTo"} xref: UMLS:C4304579 {source="MONDO:equivalentTo"} @@ -328219,13 +328060,13 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 x property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus xsd:anyURI {source="GARD:0012344"} is_obsolete: true replaced_by: MONDO:0006572 -consider: ICD10CM:L43.0 {source="Orphanet:254367", source="ORDO:254367/btnt"} -consider: ICD10CM:L43.1 {source="Orphanet:254367", source="ORDO:254367/btnt", source="MONDO:superClassOf"} -consider: ICD10CM:L43.2 {source="Orphanet:254367", source="ORDO:254367/btnt"} -consider: ICD10CM:L43.3 {source="Orphanet:254367", source="ORDO:254367/btnt"} -consider: ICD10CM:L43.8 {source="Orphanet:254367", source="ORDO:254367/btnt"} -consider: ICD10CM:L43.9 {source="Orphanet:254367", source="ORDO:254367/btnt"} -consider: ICD10CM:L66.1 {source="Orphanet:254367", source="ORDO:254367/btnt", source="MONDO:superClassOf"} +consider: ICD10CM:L43.0 {source="Orphanet:254367/btnt", source="Orphanet:254367"} +consider: ICD10CM:L43.1 {source="Orphanet:254367/btnt", source="Orphanet:254367", source="MONDO:superClassOf"} +consider: ICD10CM:L43.2 {source="Orphanet:254367/btnt", source="Orphanet:254367"} +consider: ICD10CM:L43.3 {source="Orphanet:254367/btnt", source="Orphanet:254367"} +consider: ICD10CM:L43.8 {source="Orphanet:254367/btnt", source="Orphanet:254367"} +consider: ICD10CM:L43.9 {source="Orphanet:254367/btnt", source="Orphanet:254367"} +consider: ICD10CM:L66.1 {source="Orphanet:254367/btnt", source="Orphanet:254367", source="MONDO:superClassOf"} consider: UMLS:C0023646 {source="MONDO:subClassOf", source="Orphanet:254367"} [Term] @@ -328235,13 +328076,13 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254370"} synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [Orphanet:254370] synonym: "rare cutaneous LP" EXACT [Orphanet:254370] -xref: ICD10CM:L43.0 {source="Orphanet:254370", source="ORDO:254370/ntbt"} -xref: ICD10CM:L43.1 {source="MONDO:superClassOf", source="Orphanet:254370", source="ORDO:254370/ntbt"} -xref: ICD10CM:L43.2 {source="Orphanet:254370", source="ORDO:254370/ntbt"} -xref: ICD10CM:L43.3 {source="Orphanet:254370", source="ORDO:254370/ntbt"} -xref: ICD10CM:L43.8 {source="Orphanet:254370", source="ORDO:254370/ntbt"} -xref: ICD10CM:L43.9 {source="Orphanet:254370", source="ORDO:254370/ntbt"} -xref: ICD10CM:L66.1 {source="MONDO:superClassOf", source="Orphanet:254370", source="ORDO:254370/ntbt"} +xref: ICD10CM:L43.0 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} +xref: ICD10CM:L43.1 {source="MONDO:superClassOf", source="Orphanet:254370/ntbt", source="Orphanet:254370"} +xref: ICD10CM:L43.2 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} +xref: ICD10CM:L43.3 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} +xref: ICD10CM:L43.8 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} +xref: ICD10CM:L43.9 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} +xref: ICD10CM:L66.1 {source="MONDO:superClassOf", source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: Orphanet:254370 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN226995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 "out of scope" xsd:string @@ -328263,12 +328104,12 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:L43.0 {source="Orphanet:254373", source="ORDO:254373/ntbt"} -consider: ICD10CM:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="ORDO:254373/ntbt"} -consider: ICD10CM:L43.2 {source="Orphanet:254373", source="ORDO:254373/ntbt"} -consider: ICD10CM:L43.3 {source="Orphanet:254373", source="ORDO:254373/ntbt"} -consider: ICD10CM:L43.8 {source="Orphanet:254373", source="ORDO:254373/ntbt"} -consider: ICD10CM:L43.9 {source="Orphanet:254373", source="ORDO:254373/ntbt"} +consider: ICD10CM:L43.0 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} +consider: ICD10CM:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="Orphanet:254373/ntbt"} +consider: ICD10CM:L43.2 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} +consider: ICD10CM:L43.3 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} +consider: ICD10CM:L43.8 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} +consider: ICD10CM:L43.9 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} [Term] id: MONDO:0016769 @@ -328281,10 +328122,10 @@ synonym: "Blaschkoid LP" EXACT [Orphanet:254379] synonym: "linear LP" EXACT [Orphanet:254379] synonym: "llp" RELATED [GARD:0011898] xref: GARD:0011898 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="ORDO:254379/ntbt", source="Orphanet:254379"} +xref: ICD10CM:L43.8 {source="Orphanet:254379", source="Orphanet:254379/ntbt"} xref: Orphanet:254379 {source="MONDO:equivalentTo"} xref: SCTID:44509000 {source="MONDO:equivalentTo"} -xref: UMLS:C0023650 {source="ORDO:254379/e", source="MONDO:equivalentTo", source="Orphanet:254379"} +xref: UMLS:C0023650 {source="MONDO:equivalentTo", source="Orphanet:254379", source="Orphanet:254379/e"} is_a: MONDO:0006572 {source="Orphanet:254379"} ! lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus xsd:anyURI {source="GARD:0011898"} @@ -328301,10 +328142,10 @@ synonym: "lichen planus tropicus" EXACT [Orphanet:254395] synonym: "lichenoid melanodermatitis" EXACT [Orphanet:254395] synonym: "summertime actinic lichenoid eruption" EXACT [Orphanet:254395] xref: GARD:0012673 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="Orphanet:254395", source="ORDO:254395/ntbt"} +xref: ICD10CM:L43.8 {source="Orphanet:254395", source="Orphanet:254395/ntbt"} xref: Orphanet:254395 {source="MONDO:equivalentTo"} xref: SCTID:200999007 {source="MONDO:equivalentTo"} -xref: UMLS:C0406365 {source="Orphanet:254395", source="MONDO:equivalentTo", source="ORDO:254395/e"} +xref: UMLS:C0406365 {source="Orphanet:254395", source="MONDO:equivalentTo", source="Orphanet:254395/e"} is_a: MONDO:0006572 {source="Orphanet:254395"} ! lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus xsd:anyURI {source="GARD:0012673"} @@ -328316,7 +328157,7 @@ subset: gard_rare {source="GARD:0012676"} subset: ordo_disease {source="Orphanet:254411"} synonym: "annular atrophic LP" EXACT [Orphanet:254411] xref: GARD:0012676 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="Orphanet:254411", source="ORDO:254411/ntbt"} +xref: ICD10CM:L43.8 {source="Orphanet:254411/ntbt", source="Orphanet:254411"} xref: Orphanet:254411 {source="MONDO:equivalentTo"} xref: SCTID:720493003 {source="MONDO:equivalentTo"} xref: UMLS:C4304037 {source="MONDO:equivalentTo"} @@ -328331,10 +328172,10 @@ subset: gard_rare {source="GARD:0012674"} subset: ordo_disease {source="Orphanet:254424"} synonym: "annular LP" EXACT [Orphanet:254424] xref: GARD:0012674 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="ORDO:254424/ntbt", source="Orphanet:254424"} +xref: ICD10CM:L43.8 {source="Orphanet:254424", source="Orphanet:254424/ntbt"} xref: Orphanet:254424 {source="MONDO:equivalentTo"} xref: SCTID:201000006 {source="MONDO:equivalentTo"} -xref: UMLS:C0406363 {source="MONDO:equivalentTo", source="Orphanet:254424", source="ORDO:254424/e"} +xref: UMLS:C0406363 {source="MONDO:equivalentTo", source="Orphanet:254424", source="Orphanet:254424/e"} is_a: MONDO:0006572 {source="Orphanet:254424"} ! lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus xsd:anyURI {source="GARD:0012674"} @@ -328346,12 +328187,12 @@ subset: gard_rare {source="GARD:0012675"} subset: ordo_disease {source="Orphanet:254449"} synonym: "atrophic LP" EXACT [Orphanet:254449] xref: GARD:0012675 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="ORDO:254449/ntbt", source="Orphanet:254449"} -xref: MedDRA:10056959 {source="ORDO:254449/e", source="Orphanet:254449"} +xref: ICD10CM:L43.8 {source="Orphanet:254449/ntbt", source="Orphanet:254449"} +xref: MedDRA:10056959 {source="Orphanet:254449/e", source="Orphanet:254449"} xref: NCIT:C34777 {source="MONDO:equivalentTo"} xref: Orphanet:254449 {source="MONDO:equivalentTo"} xref: SCTID:25858008 {source="MONDO:equivalentTo"} -xref: UMLS:C0023647 {source="MONDO:equivalentTo", source="ORDO:254449/e", source="Orphanet:254449", source="NCIT:C34777"} +xref: UMLS:C0023647 {source="Orphanet:254449/e", source="MONDO:equivalentTo", source="Orphanet:254449", source="NCIT:C34777"} is_a: MONDO:0006572 {source="MONDO:Redundant", source="NCIT:C34777", source="indirect", source="linkedlifedata"} ! lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus xsd:anyURI {source="GARD:0012675"} @@ -328366,10 +328207,10 @@ synonym: "lichen planus pigmentosus inversus" EXACT [Orphanet:254463] synonym: "LP pigmentosa" EXACT [Orphanet:254463] synonym: "LP pigmentosus" EXACT [Orphanet:254463] xref: GARD:0010816 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="Orphanet:254463", source="ORDO:254463/ntbt"} +xref: ICD10CM:L43.8 {source="Orphanet:254463/ntbt", source="Orphanet:254463"} xref: Orphanet:254463 {source="MONDO:equivalentTo"} xref: SCTID:717061002 {source="MONDO:equivalentTo"} -xref: UMLS:C0406366 {source="ORDO:254463/e", source="Orphanet:254463", source="MONDO:equivalentTo"} +xref: UMLS:C0406366 {source="Orphanet:254463", source="MONDO:equivalentTo", source="Orphanet:254463/e"} is_a: MONDO:0006572 {source="Orphanet:254463"} ! lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus xsd:anyURI {source="GARD:0010816"} @@ -328381,10 +328222,10 @@ subset: gard_rare {source="GARD:0012677"} subset: ordo_disease {source="Orphanet:254478"} synonym: "LP pemphigoides" EXACT [Orphanet:254478] xref: GARD:0012677 {source="MONDO:equivalentTo"} -xref: ICD10CM:L43.8 {source="ORDO:254478/ntbt", source="Orphanet:254478"} +xref: ICD10CM:L43.8 {source="Orphanet:254478", source="Orphanet:254478/ntbt"} xref: Orphanet:254478 {source="MONDO:equivalentTo"} xref: SCTID:238653005 {source="MONDO:equivalentTo"} -xref: UMLS:C0406369 {source="ORDO:254478/e", source="MONDO:equivalentTo", source="Orphanet:254478"} +xref: UMLS:C0406369 {source="MONDO:equivalentTo", source="Orphanet:254478", source="Orphanet:254478/e"} is_a: MONDO:0006572 {source="Orphanet:254478"} ! lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides xsd:anyURI {source="GARD:0012677"} @@ -328396,10 +328237,10 @@ subset: gard_rare {source="GARD:0010886"} subset: ordo_disease {source="Orphanet:254492"} synonym: "FFA" EXACT ABBREVIATION [Orphanet:254492] xref: GARD:0010886 {source="MONDO:equivalentTo"} -xref: ICD10CM:L66.1 {source="MONDO:directSiblingOf", source="ORDO:254492/ntbt", source="Orphanet:254492"} +xref: ICD10CM:L66.1 {source="Orphanet:254492/ntbt", source="MONDO:directSiblingOf", source="Orphanet:254492"} xref: Orphanet:254492 {source="MONDO:equivalentTo"} xref: SCTID:717055000 {source="MONDO:equivalentTo"} -xref: UMLS:C1274700 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:254492/e", source="Orphanet:254492"} +xref: UMLS:C1274700 {source="Orphanet:254492/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:254492"} xref: UMLS:C4255374 {source="MONDO:equivalentTo"} is_a: MONDO:0004907 {source="Orphanet:254492", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia xsd:anyURI {source="GARD:0010886"} @@ -328410,10 +328251,10 @@ name: inhalational botulism def: "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." [Orphanet:254504] subset: ordo_clinical_subtype {source="Orphanet:254504"} synonym: "inhalation botulism" EXACT [Orphanet:254504] -xref: ICD10CM:A05.1 {source="ORDO:254504/ntbt", source="Orphanet:254504"} +xref: ICD10CM:A05.1 {source="Orphanet:254504/ntbt", source="Orphanet:254504"} xref: Orphanet:254504 {source="MONDO:equivalentTo"} xref: SCTID:409562009 {source="MONDO:equivalentTo"} -xref: UMLS:C1443900 {source="MONDO:equivalentTo", source="ORDO:254504/e", source="Orphanet:254504"} +xref: UMLS:C1443900 {source="Orphanet:254504/e", source="MONDO:equivalentTo", source="Orphanet:254504"} is_a: MONDO:0005498 {source="Orphanet:254504"} ! botulism [Term] @@ -328423,7 +328264,7 @@ def: "Iatrogenic botulism is the most recent man-made form of botulism, a rare a subset: ordo_clinical_subtype {source="Orphanet:254509"} synonym: "accidental botulism" EXACT [NCIT:C128345] synonym: "inadvertent botulism" EXACT [Orphanet:254509] -xref: ICD10CM:A05.1 {source="ORDO:254509/ntbt", source="Orphanet:254509"} +xref: ICD10CM:A05.1 {source="Orphanet:254509/ntbt", source="Orphanet:254509"} xref: NCIT:C128345 {source="MONDO:equivalentTo"} xref: Orphanet:254509 {source="MONDO:equivalentTo"} xref: UMLS:C4288922 {source="MONDO:equivalentTo"} @@ -328438,7 +328279,7 @@ def: "Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydra subset: ordo_malformation_syndrome {source="Orphanet:254519"} synonym: "MCA due to 14q32.2 maternally expressed gene defect" EXACT [Orphanet:254519] xref: DOID:0111712 {source="MONDO:equivalentTo"} -xref: OMIM:608149 {source="MONDO:superClassOf", source="ORDO:254519/e", source="Orphanet:254519"} +xref: OMIM:608149 {source="Orphanet:254519/e", source="MONDO:superClassOf", source="Orphanet:254519"} xref: Orphanet:254519 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:254519", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:254519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -328452,7 +328293,7 @@ name: paternal 14q32.2 microdeletion syndrome subset: ordo_etiological_subtype {source="Orphanet:254525"} synonym: "paternal del(14)(q32.2)" EXACT [Orphanet:254525] synonym: "paternal monosomy 14q32.2" EXACT [Orphanet:254525] -xref: ICD10CM:Q93.5 {source="ORDO:254525/attributed", source="ORDO:254525/ntbt", source="Orphanet:254525"} +xref: ICD10CM:Q93.5 {source="Orphanet:254525", source="Orphanet:254525/attributed", source="Orphanet:254525/ntbt"} xref: Orphanet:254525 {source="MONDO:equivalentTo"} xref: UMLS:CN202036 {source="MONDO:equivalentTo"} is_a: MONDO:0014541 {source="Orphanet:254525"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect @@ -328467,7 +328308,7 @@ name: maternal 14q32.2 microdeletion syndrome subset: ordo_etiological_subtype {source="Orphanet:254528"} synonym: "maternal del(14)(q32.2)" EXACT [Orphanet:254528] synonym: "maternal monosomy 14q32.2" EXACT [Orphanet:254528] -xref: ICD10CM:Q93.5 {source="ORDO:254528/attributed", source="ORDO:254528/ntbt", source="Orphanet:254528"} +xref: ICD10CM:Q93.5 {source="Orphanet:254528/attributed", source="Orphanet:254528/ntbt", source="Orphanet:254528"} xref: Orphanet:254528 {source="MONDO:equivalentTo"} xref: UMLS:CN202037 {source="MONDO:equivalentTo"} is_a: MONDO:0016779 {source="Orphanet:254528"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect @@ -328484,7 +328325,7 @@ is_a: MONDO:0014541 {source="Orphanet:254531"} ! motor developmental delay due t id: MONDO:0016783 name: maternal 14q32.2 hypermethylation syndrome subset: ordo_etiological_subtype {source="Orphanet:254534"} -xref: ICD10CM:Q99.8 {source="ORDO:254534/attributed", source="ORDO:254534/ntbt", source="Orphanet:254534"} +xref: ICD10CM:Q99.8 {source="Orphanet:254534", source="Orphanet:254534/attributed", source="Orphanet:254534/ntbt"} xref: Orphanet:254534 {source="MONDO:equivalentTo"} xref: UMLS:CN202039 {source="MONDO:equivalentTo"} is_a: MONDO:0016779 {source="Orphanet:254534"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect @@ -328501,7 +328342,7 @@ xref: ONCOTREE:GTD {source="MONDO:equivalentTo"} xref: Orphanet:254685 {source="MONDO:equivalentTo"} xref: SCTID:416402001 {source="MONDO:equivalentTo"} xref: UMLS:C1135868 {source="Orphanet:254685", source="MONDO:superClassOf"} -xref: UMLS:C2931618 {source="ORDO:254685/e", source="Orphanet:254685", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931618 {source="Orphanet:254685", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:254685/e"} is_a: MONDO:0021148 {source="Orphanet:254685"} ! female reproductive system neoplasm is_a: MONDO:0024575 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pregnancy disorder union_of: MONDO:0006248 ! hydatidiform mole @@ -328517,14 +328358,14 @@ synonym: "classical hydatidiform Mole" EXACT [NCIT:C4871] synonym: "complete hydatid Mole" EXACT [NCIT:C4871] synonym: "complete molar pregnancy" EXACT [Orphanet:254688] synonym: "complete Mole" EXACT [NCIT:C4871] -xref: ICD10CM:O01.0 {source="Orphanet:254688", source="ORDO:254688/e"} +xref: ICD10CM:O01.0 {source="Orphanet:254688", source="Orphanet:254688/e"} xref: NCIT:C4871 {source="MONDO:equivalentTo"} -xref: OMIM:231090 {source="ORDO:254688/btnt", source="Orphanet:254688", source="MONDO:superClassOf"} -xref: OMIM:614293 {source="ORDO:254688/btnt", source="Orphanet:254688", source="MONDO:superClassOf"} +xref: OMIM:231090 {source="Orphanet:254688", source="MONDO:superClassOf", source="Orphanet:254688/btnt"} +xref: OMIM:614293 {source="Orphanet:254688", source="MONDO:superClassOf", source="Orphanet:254688/btnt"} xref: ONCOTREE:CHM {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="MONDO:equivalentTo"} xref: SCTID:237249000 {source="MONDO:equivalentTo"} -xref: UMLS:C0678213 {source="MONDO:equivalentTo", source="Orphanet:254688", source="NCIT:C4871", source="ORDO:254688/e"} +xref: UMLS:C0678213 {source="MONDO:equivalentTo", source="Orphanet:254688", source="NCIT:C4871", source="Orphanet:254688/e"} is_a: MONDO:0006248 {source="NCIT:C4871", source="ONCOTREE:CHM", source="Orphanet:254688"} ! hydatidiform mole [Term] @@ -328539,13 +328380,13 @@ synonym: "partial hydatid Mole" EXACT [NCIT:C4293] synonym: "partial molar pregnancy" EXACT [Orphanet:254693] synonym: "partial Mole" EXACT [NCIT:C4293] synonym: "PHM" RELATED ABBREVIATION [ONCOTREE:PHM] -xref: ICD10CM:O01.1 {source="Orphanet:254693", source="ORDO:254693/e"} +xref: ICD10CM:O01.1 {source="Orphanet:254693", source="Orphanet:254693/e"} xref: ICDO:9103/0 {source="NCIT:C4293"} xref: NCIT:C4293 {source="MONDO:equivalentTo"} xref: ONCOTREE:PHM {source="MONDO:equivalentTo"} xref: Orphanet:254693 {source="MONDO:equivalentTo"} xref: SCTID:237250000 {source="MONDO:equivalentTo"} -xref: UMLS:C0334529 {source="Orphanet:254693", source="NCIT:C4293", source="ORDO:254693/e", source="MONDO:equivalentTo"} +xref: UMLS:C0334529 {source="Orphanet:254693", source="NCIT:C4293", source="MONDO:equivalentTo", source="Orphanet:254693/e"} is_a: MONDO:0006248 {source="NCIT:C4293", source="ONCOTREE:PHM", source="Orphanet:254693"} ! hydatidiform mole [Term] @@ -328556,14 +328397,14 @@ subset: ordo_disease {source="Orphanet:254698"} synonym: "epithelioid trophoblastic tumor" EXACT [MONDO:0002700] synonym: "ETT" RELATED ABBREVIATION [ONCOTREE:ETT] xref: DOID:3593 {source="MONDO:equivalentTo"} -xref: ICD10CM:D39.2 {source="ORDO:254698/ntbt", source="Orphanet:254698"} +xref: ICD10CM:D39.2 {source="Orphanet:254698", source="Orphanet:254698/ntbt"} xref: ICDO:9105/3 {source="NCIT:C6900"} xref: NCIT:C6900 {source="MONDO:equivalentTo", source="DOID:3593"} xref: ONCOTREE:ETT {source="MONDO:equivalentTo"} xref: Orphanet:254698 {source="MONDO:equivalentTo"} xref: SCTID:128767001 {source="DOID:3593"} xref: SCTID:609515005 {source="MONDO:equivalentTo", source="DOID:3593"} -xref: UMLS:C1266159 {source="ORDO:254698/e", source="MONDO:equivalentTo", source="Orphanet:254698", source="NCIT:C6900", source="DOID:3593"} +xref: UMLS:C1266159 {source="MONDO:equivalentTo", source="Orphanet:254698", source="NCIT:C6900", source="Orphanet:254698/e", source="DOID:3593"} is_a: MONDO:0002872 {source="DOID:3593", source="MONDO:Redundant", source="NCIT:C6900/inferred"} ! trophoblastic neoplasm is_a: MONDO:0018944 {source="NCIT:C6900", source="Orphanet:254698", source="linkedlifedata"} ! gestational trophoblastic neoplasm @@ -328590,7 +328431,7 @@ subset: ordo_group_of_disorders {source="Orphanet:254746"} synonym: "inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyruvate metabolic process disorder" EXACT [] synonym: "rare inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E74.4 {source="ORDO:254746/attributed", source="ORDO:254746/ntbt", source="Orphanet:254746"} +xref: ICD10CM:E74.4 {source="Orphanet:254746/attributed", source="Orphanet:254746/ntbt", source="Orphanet:254746"} xref: Orphanet:254746 {source="MONDO:equivalentTo"} xref: UMLS:CN226999 {source="MONDO:equivalentTo"} is_a: MONDO:0019243 {source="Orphanet:254746"} ! inborn disorder of energy metabolism @@ -328609,7 +328450,7 @@ synonym: "inborn tricarboxylic acid cycle disorder" EXACT [] synonym: "Krebs cycle disorder" EXACT [Orphanet:254749] synonym: "rare inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic] synonym: "TCA cycle disorder" EXACT [Orphanet:254749] -xref: ICD10CM:E88.8 {source="Orphanet:254749", source="ORDO:254749/attributed", source="ORDO:254749/ntbt"} +xref: ICD10CM:E88.8 {source="Orphanet:254749/attributed", source="Orphanet:254749/ntbt", source="Orphanet:254749"} xref: Orphanet:254749 {source="MONDO:equivalentTo"} xref: UMLS:CN227000 {source="MONDO:equivalentTo"} is_a: MONDO:0019243 {source="MONDO:Redundant", source="Orphanet:254749"} ! inborn disorder of energy metabolism @@ -328666,7 +328507,7 @@ id: MONDO:0016794 name: maternally-inherited mitochondrial myopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254788"} -xref: ICD10CM:G71.3 {source="ORDO:254788/attributed", source="ORDO:254788/ntbt", source="Orphanet:254788"} +xref: ICD10CM:G71.3 {source="Orphanet:254788", source="Orphanet:254788/attributed", source="Orphanet:254788/ntbt"} xref: Orphanet:254788 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:254788"} ! mitochondrial oxidative phosphorylation disorder @@ -328692,8 +328533,8 @@ def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group o subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254803"} synonym: "mtDNA depletion syndrome, encephalomyopathic form" EXACT [Orphanet:254803] -xref: OMIM:612073 {source="ORDO:254803/btnt", source="MONDO:superClassOf", source="Orphanet:254803"} -xref: OMIM:612075 {source="ORDO:254803/btnt", source="MONDO:superClassOf", source="Orphanet:254803"} +xref: OMIM:612073 {source="MONDO:superClassOf", source="Orphanet:254803/btnt", source="Orphanet:254803"} +xref: OMIM:612075 {source="MONDO:superClassOf", source="Orphanet:254803/btnt", source="Orphanet:254803"} xref: Orphanet:254803 {source="MONDO:equivalentTo"} xref: UMLS:CN202052 {source="MONDO:equivalentTo"} xref: UMLS:CN230130 {source="MONDO:equivalentTo"} @@ -328794,7 +328635,7 @@ id: MONDO:0016806 name: maternally-inherited mitochondrial dystonia def: "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." [Orphanet:254851] subset: ordo_disease {source="Orphanet:254851"} -xref: ICD10CM:G24.8 {source="Orphanet:254851", source="ORDO:254851/attributed", source="ORDO:254851/ntbt"} +xref: ICD10CM:G24.8 {source="Orphanet:254851/attributed", source="Orphanet:254851/ntbt", source="Orphanet:254851"} xref: Orphanet:254851 {source="MONDO:equivalentTo"} xref: SCTID:717054001 {source="MONDO:equivalentTo"} xref: UMLS:C4274074 {source="MONDO:equivalentTo"} @@ -328805,7 +328646,7 @@ id: MONDO:0016807 name: pure mitochondrial myopathy def: "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." [Orphanet:254854] subset: ordo_disease {source="Orphanet:254854"} -xref: ICD10CM:G71.3 {source="ORDO:254854/attributed", source="ORDO:254854/ntbt", source="Orphanet:254854"} +xref: ICD10CM:G71.3 {source="Orphanet:254854", source="Orphanet:254854/attributed", source="Orphanet:254854/ntbt"} xref: Orphanet:254854 {source="MONDO:equivalentTo"} xref: SCTID:732245008 {source="MONDO:equivalentTo"} xref: UMLS:C4517289 {source="MONDO:equivalentTo"} @@ -328834,7 +328675,7 @@ subset: ordo_disease {source="Orphanet:254881"} synonym: "mitochondrial spinocerebellar ataxia with epilepsy" EXACT [Orphanet:254881] synonym: "MSCAE" EXACT ABBREVIATION [Orphanet:254881] synonym: "SCAE" EXACT ABBREVIATION [Orphanet:254881] -xref: OMIM:607459 {source="MONDO:subClassOf", source="Orphanet:254881", source="ORDO:254881/ntbt"} +xref: OMIM:607459 {source="MONDO:subClassOf", source="Orphanet:254881/ntbt", source="Orphanet:254881"} xref: Orphanet:254881 {source="MONDO:equivalentTo"} xref: UMLS:C1843851 {source="MONDO:subClassOf", source="Orphanet:254881"} xref: UMLS:C1843852 {source="Orphanet:254881", source="MONDO:equivalentTo"} @@ -328849,10 +328690,10 @@ def: "Autosomal recessive form of progressive external ophthalmoplegia." [MONDO: subset: ordo_disease {source="Orphanet:254886"} synonym: "arPEO" EXACT [Orphanet:254886] synonym: "progressive external ophthalmoplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="ORDO:254886/attributed", source="ORDO:254886/ntbt", source="Orphanet:254886"} +xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:254886", source="Orphanet:254886/attributed", source="Orphanet:254886/ntbt"} xref: MESH:C564926 {source="MONDO:equivalentTo"} -xref: OMIM:258450 {source="ORDO:254886/btnt", source="Orphanet:254886", source="MONDO:superClassOf"} -xref: OMIM:617069 {source="ORDO:254886/btnt", source="Orphanet:254886", source="MONDO:superClassOf"} +xref: OMIM:258450 {source="Orphanet:254886", source="MONDO:superClassOf", source="Orphanet:254886/btnt"} +xref: OMIM:617069 {source="Orphanet:254886", source="MONDO:superClassOf", source="Orphanet:254886/btnt"} xref: Orphanet:254886 {source="MONDO:equivalentTo"} xref: UMLS:C1850303 {source="Orphanet:254886", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016797 {source="Orphanet:254886"} ! multiple mitochondrial DNA deletion syndrome @@ -328864,8 +328705,8 @@ id: MONDO:0016811 name: renal tubulopathy-encephalopathy-liver failure syndrome def: "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." [Orphanet:254902] subset: ordo_disease {source="Orphanet:254902"} -xref: ICD10CM:E88.8 {source="ORDO:254902/attributed", source="ORDO:254902/ntbt", source="Orphanet:254902"} -xref: OMIM:124000 {source="MONDO:subClassOf", source="ORDO:254902/ntbt", source="Orphanet:254902"} +xref: ICD10CM:E88.8 {source="Orphanet:254902/attributed", source="Orphanet:254902/ntbt", source="Orphanet:254902"} +xref: OMIM:124000 {source="MONDO:subClassOf", source="Orphanet:254902/ntbt", source="Orphanet:254902"} xref: Orphanet:254902 {source="MONDO:equivalentTo"} xref: UMLS:CN202065 {source="MONDO:equivalentTo"} is_a: MONDO:0007415 ! mitochondrial complex III deficiency nuclear type 1 @@ -328888,12 +328729,12 @@ synonym: "hereditary progressive dystonia with diurnal fluctuation" EXACT [Orpha synonym: "HPD with diurnal fluctuation" EXACT [Orphanet:255] synonym: "Segawa's disease" EXACT [NCIT:C116719] xref: GARD:0009817 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G24.8 {source="ORDO:255/attributed", source="ORDO:255/ntbt", source="Orphanet:255"} -xref: MESH:C538007 {source="MONDO:equivalentTo", source="ORDO:255/e", source="Orphanet:255"} +xref: ICD10CM:G24.8 {source="Orphanet:255/attributed", source="Orphanet:255/ntbt", source="Orphanet:255"} +xref: MESH:C538007 {source="Orphanet:255/e", source="MONDO:equivalentTo", source="Orphanet:255"} xref: NCIT:C116719 {source="MONDO:equivalentTo"} xref: Orphanet:255 {source="MONDO:equivalentTo"} xref: SCTID:230332007 {source="MONDO:equivalentTo"} -xref: UMLS:C1851920 {source="NCIT:C116719", source="MONDO:equivalentTo", source="ORDO:255/e", source="Orphanet:255"} +xref: UMLS:C1851920 {source="NCIT:C116719", source="Orphanet:255/e", source="MONDO:equivalentTo", source="Orphanet:255"} is_a: MONDO:0018329 {source="MONDO:Redundant", source="Orphanet:255"} ! persistent combined dystonia is_a: MONDO:0019058 {source="Orphanet:255"} ! neurometabolic disease intersection_of: MONDO:0018329 ! persistent combined dystonia @@ -328918,12 +328759,12 @@ synonym: "MILS" EXACT ABBREVIATION [Orphanet:255210] synonym: "mitochondrial DNA-associated Leigh syndrome" RELATED [GARD:0003671] synonym: "Subacute necrotizing encephalomyelopathy maternally inherited" RELATED [GARD:0003671] xref: GARD:0003671 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G31.8 {source="Orphanet:255210", source="ORDO:255210/attributed", source="ORDO:255210/ntbt"} +xref: ICD10CM:G31.8 {source="Orphanet:255210", source="Orphanet:255210/attributed", source="Orphanet:255210/ntbt"} xref: MESH:C536035 {source="MONDO:equivalentTo"} -xref: OMIM:256000 {source="MONDO:subClassOf", source="Orphanet:255210", source="ORDO:255210/ntbt"} +xref: OMIM:256000 {source="MONDO:subClassOf", source="Orphanet:255210", source="Orphanet:255210/ntbt"} xref: Orphanet:255210 {source="MONDO:equivalentTo"} xref: SCTID:717052002 {source="MONDO:equivalentTo"} -xref: UMLS:C2931092 {source="Orphanet:255210", source="ORDO:255210/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931092 {source="Orphanet:255210", source="Orphanet:255210/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0009723 {source="linkedlifedata"} ! Leigh syndrome is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder relationship: has_modifier SO:1000008 ! point_mutation @@ -328935,9 +328776,9 @@ name: Leigh syndrome with leukodystrophy subset: ordo_disease {source="Orphanet:255241"} synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [Orphanet:255241] synonym: "Leigh disease with leukodystrophy" EXACT [Orphanet:255241] -xref: ICD10CM:G31.8 {source="ORDO:255241/attributed", source="ORDO:255241/ntbt", source="Orphanet:255241"} -xref: OMIM:256000 {source="MONDO:subClassOf", source="ORDO:255241/ntbt", source="Orphanet:255241"} -xref: OMIM:616277 {source="MONDO:superClassOf", source="ORDO:255241/btnt", source="Orphanet:255241"} +xref: ICD10CM:G31.8 {source="Orphanet:255241/attributed", source="Orphanet:255241/ntbt", source="Orphanet:255241"} +xref: OMIM:256000 {source="MONDO:subClassOf", source="Orphanet:255241/ntbt", source="Orphanet:255241"} +xref: OMIM:616277 {source="MONDO:superClassOf", source="Orphanet:255241/btnt", source="Orphanet:255241"} xref: Orphanet:255241 {source="MONDO:equivalentTo"} xref: UMLS:CN202083 {source="MONDO:equivalentTo"} is_a: MONDO:0009723 ! Leigh syndrome @@ -328949,9 +328790,9 @@ name: Leigh syndrome with nephrotic syndrome subset: ordo_disease {source="Orphanet:255249"} synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [Orphanet:255249] synonym: "Leigh disease with nephrotic syndrome" EXACT [Orphanet:255249] -xref: ICD10CM:G31.8 {source="ORDO:255249/attributed", source="ORDO:255249/ntbt", source="Orphanet:255249"} -xref: OMIM:607426 {source="ORDO:255249/btnt", source="Orphanet:255249", source="MONDO:superClassOf"} -xref: OMIM:614652 {source="ORDO:255249/btnt", source="Orphanet:255249", source="MONDO:superClassOf"} +xref: ICD10CM:G31.8 {source="Orphanet:255249", source="Orphanet:255249/attributed", source="Orphanet:255249/ntbt"} +xref: OMIM:607426 {source="Orphanet:255249", source="MONDO:superClassOf", source="Orphanet:255249/btnt"} +xref: OMIM:614652 {source="Orphanet:255249", source="MONDO:superClassOf", source="Orphanet:255249/btnt"} xref: Orphanet:255249 {source="MONDO:equivalentTo"} xref: UMLS:CN202084 {source="MONDO:equivalentTo"} is_a: MONDO:0009723 {source="Orphanet:255249"} ! Leigh syndrome @@ -328967,20 +328808,20 @@ synonym: "ear-patella-short stature syndrome" EXACT [DOID:0060306] synonym: "Meier-Gorlin syndrome" EXACT [Orphanet:2554] xref: DOID:0060306 {source="MONDO:equivalentTo"} xref: GARD:0002033 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:2554", source="ORDO:2554/attributed", source="ORDO:2554/ntbt"} -xref: MedDRA:10070612 {source="ORDO:2554/e", source="Orphanet:2554"} -xref: MESH:C538012 {source="ORDO:2554/e", source="Orphanet:2554", source="MONDO:equivalentTo", source="DOID:0060306"} -xref: OMIM:224690 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt", source="DOID:0060306"} -xref: OMIM:613800 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt", source="DOID:0060306"} -xref: OMIM:613803 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt", source="DOID:0060306"} -xref: OMIM:613804 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt", source="DOID:0060306"} -xref: OMIM:613805 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt", source="DOID:0060306"} -xref: OMIM:616835 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt"} -xref: OMIM:617063 {source="Orphanet:2554", source="MONDO:superClassOf", source="ORDO:2554/btnt"} +xref: ICD10CM:Q87.1 {source="Orphanet:2554/attributed", source="Orphanet:2554/ntbt", source="Orphanet:2554"} +xref: MedDRA:10070612 {source="Orphanet:2554", source="Orphanet:2554/e"} +xref: MESH:C538012 {source="Orphanet:2554", source="MONDO:equivalentTo", source="DOID:0060306", source="Orphanet:2554/e"} +xref: OMIM:224690 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf", source="DOID:0060306"} +xref: OMIM:613800 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf", source="DOID:0060306"} +xref: OMIM:613803 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf", source="DOID:0060306"} +xref: OMIM:613804 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf", source="DOID:0060306"} +xref: OMIM:613805 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf", source="DOID:0060306"} +xref: OMIM:616835 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf"} +xref: OMIM:617063 {source="Orphanet:2554/btnt", source="Orphanet:2554", source="MONDO:superClassOf"} xref: OMIMPS:224690 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="MONDO:equivalentTo", source="DOID:0060306"} xref: SCTID:703508009 {source="MONDO:superClassOf", source="DOID:0060306"} -xref: UMLS:C1868684 {source="ORDO:2554/e", source="Orphanet:2554", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060306"} +xref: UMLS:C1868684 {source="Orphanet:2554", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060306", source="Orphanet:2554/e"} is_a: MONDO:0006025 {source="DOID:0060306", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015160 {source="Orphanet:2554", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015334 {source="Orphanet:2554"} ! branchial arch or oral-acral syndrome @@ -328997,7 +328838,7 @@ name: Mikati-Najjar-Sahli syndrome def: "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." [Orphanet:2558] subset: ordo_malformation_syndrome {source="Orphanet:2558"} synonym: "microcephaly-hypergonadotropic hypogonadism-short stature syndrome" EXACT [Orphanet:2558] -xref: ICD10CM:E22.8 {source="ORDO:2558/attributed", source="ORDO:2558/ntbt", source="Orphanet:2558"} +xref: ICD10CM:E22.8 {source="Orphanet:2558", source="Orphanet:2558/attributed", source="Orphanet:2558/ntbt"} xref: Orphanet:2558 {source="MONDO:equivalentTo"} xref: UMLS:CN202088 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease @@ -329009,7 +328850,7 @@ name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome def: "This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." [Orphanet:2560] subset: ordo_malformation_syndrome {source="Orphanet:2560"} xref: Orphanet:2560 {source="MONDO:equivalentTo"} -xref: UMLS:C2931024 {source="MONDO:equivalentTo", source="Orphanet:2560", source="ORDO:2560/e"} +xref: UMLS:C2931024 {source="Orphanet:2560/e", source="MONDO:equivalentTo", source="Orphanet:2560"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism [Term] @@ -329024,17 +328865,17 @@ synonym: "MYMY" RELATED ABBREVIATION [GARD:0007064] synonym: "progressive intracranial arterial occlusion" EXACT [DOID:13099] xref: DOID:13099 {source="MONDO:equivalentTo"} xref: GARD:0007064 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I67.5 {source="Orphanet:2573", source="ORDO:2573/e", source="ORDO:2573/specific", source="DOID:13099"} +xref: ICD10CM:I67.5 {source="Orphanet:2573", source="Orphanet:2573/e", source="DOID:13099", source="Orphanet:2573/specific"} xref: ICD9:437.5 {source="MONDO:superClassOf", source="DOID:13099"} -xref: MedDRA:10028047 {source="Orphanet:2573", source="ORDO:2573/e"} -xref: MESH:C536991 {source="Orphanet:2573", source="ORDO:2573/e"} -xref: MESH:D009072 {source="Orphanet:2573", source="ORDO:2573/e", source="MONDO:equivalentTo", source="DOID:13099"} +xref: MedDRA:10028047 {source="Orphanet:2573", source="Orphanet:2573/e"} +xref: MESH:C536991 {source="Orphanet:2573", source="Orphanet:2573/e"} +xref: MESH:D009072 {source="Orphanet:2573", source="MONDO:equivalentTo", source="Orphanet:2573/e", source="DOID:13099"} xref: NCIT:C84895 {source="MONDO:equivalentTo", source="DOID:13099"} -xref: OMIM:252350 {source="Orphanet:2573", source="ORDO:2573/e", source="MONDO:superClassOf", source="DOID:13099"} +xref: OMIM:252350 {source="Orphanet:2573", source="Orphanet:2573/e", source="MONDO:superClassOf", source="DOID:13099"} xref: OMIM:300845 {source="MONDO:superClassOf", source="DOID:13099"} -xref: OMIM:607151 {source="Orphanet:2573", source="MONDO:superClassOf", source="DOID:13099", source="ORDO:2573/btnt"} -xref: OMIM:608796 {source="Orphanet:2573", source="MONDO:superClassOf", source="DOID:13099", source="ORDO:2573/btnt"} -xref: OMIM:614042 {source="Orphanet:2573", source="MONDO:superClassOf", source="DOID:13099", source="ORDO:2573/btnt"} +xref: OMIM:607151 {source="Orphanet:2573", source="Orphanet:2573/btnt", source="MONDO:superClassOf", source="DOID:13099"} +xref: OMIM:608796 {source="Orphanet:2573", source="Orphanet:2573/btnt", source="MONDO:superClassOf", source="DOID:13099"} +xref: OMIM:614042 {source="Orphanet:2573", source="Orphanet:2573/btnt", source="MONDO:superClassOf", source="DOID:13099"} xref: OMIM:615750 {source="MONDO:superClassOf", source="DOID:13099"} xref: OMIMPS:252350 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2573 {source="MONDO:equivalentTo", source="DOID:13099"} @@ -329042,8 +328883,8 @@ xref: Orphanet:280679 {source="MONDO:superClassOf", source="DOID:13099"} xref: Orphanet:401945 {source="MONDO:superClassOf", source="DOID:13099"} xref: SCTID:69116000 {source="MONDO:superClassOf", source="DOID:13099"} xref: SCTID:89142007 {source="MONDO:equivalentTo", source="DOID:13099"} -xref: UMLS:C0026654 {source="Orphanet:2573", source="ORDO:2573/e", source="MONDO:equivalentTo", source="DOID:13099", source="NCIT:C84895"} -xref: UMLS:C2931384 {source="Orphanet:2573", source="ORDO:2573/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0026654 {source="Orphanet:2573", source="MONDO:equivalentTo", source="Orphanet:2573/e", source="DOID:13099", source="NCIT:C84895"} +xref: UMLS:C2931384 {source="Orphanet:2573", source="Orphanet:2573/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0006693 {source="DOID:13099", source="MESH:D009072"} ! cerebral arterial disease is_a: MONDO:0018791 {source="Orphanet:2573"} ! Moyomoya angiopathy is_a: MONDO:0019117 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:2573/inferred"} ! genetic nervous system disorder @@ -329056,7 +328897,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2580"} synonym: "shoulder girdle defect intellectual disability familial" RELATED [GARD:0004860] synonym: "shoulder girdle defect mental retardation familial" RELATED DEPRECATED [GARD:0004860] xref: GARD:0004860 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:2580", source="ORDO:2580/attributed", source="ORDO:2580/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:2580/attributed", source="Orphanet:2580/ntbt", source="Orphanet:2580"} xref: Orphanet:2580 {source="MONDO:equivalentObsolete"} xref: UMLS:CN227007 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:2580"} ! syndromic intellectual disability @@ -329067,11 +328908,11 @@ id: MONDO:0016822 name: myalgia-eosinophilia syndrome associated with tryptophan def: "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." [Orphanet:2582] subset: ordo_malformation_syndrome {source="Orphanet:2582"} -xref: ICD10CM:M35.8 {source="ORDO:2582/ntbt", source="Orphanet:2582"} -xref: MedDRA:10014952 {source="Orphanet:2582", source="ORDO:2582/e"} -xref: MESH:D016603 {source="MONDO:relatedTo", source="Orphanet:2582", source="ORDO:2582/e"} +xref: ICD10CM:M35.8 {source="Orphanet:2582/ntbt", source="Orphanet:2582"} +xref: MedDRA:10014952 {source="Orphanet:2582/e", source="Orphanet:2582"} +xref: MESH:D016603 {source="MONDO:relatedTo", source="Orphanet:2582/e", source="Orphanet:2582"} xref: Orphanet:2582 {source="MONDO:equivalentTo"} -xref: UMLS:C1275050 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2582", source="ORDO:2582/e"} +xref: UMLS:C1275050 {source="Orphanet:2582/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2582"} is_a: MONDO:0005554 {source="Orphanet:2582"} ! rheumatic disorder [Term] @@ -329082,15 +328923,15 @@ subset: ordo_disease {source="Orphanet:2583"} synonym: "Madura foot" EXACT [Orphanet:2583] xref: GARD:0003862 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:B47 {source="MONDO:equivalentTo"} -xref: ICD10CM:B47.0 {source="Orphanet:2583", source="ORDO:2583/btnt"} -xref: ICD10CM:B47.1 {source="Orphanet:2583", source="ORDO:2583/btnt"} -xref: ICD10CM:B47.9 {source="Orphanet:2583", source="ORDO:2583/btnt"} -xref: MedDRA:10028427 {source="Orphanet:2583", source="ORDO:2583/e"} -xref: MESH:D008271 {source="Orphanet:2583", source="MONDO:equivalentTo", source="ORDO:2583/e"} +xref: ICD10CM:B47.0 {source="Orphanet:2583", source="Orphanet:2583/btnt"} +xref: ICD10CM:B47.1 {source="Orphanet:2583", source="Orphanet:2583/btnt"} +xref: ICD10CM:B47.9 {source="Orphanet:2583", source="Orphanet:2583/btnt"} +xref: MedDRA:10028427 {source="Orphanet:2583", source="Orphanet:2583/e"} +xref: MESH:D008271 {source="Orphanet:2583", source="MONDO:equivalentTo", source="Orphanet:2583/e"} xref: NCIT:C85505 {source="MONDO:equivalentTo"} xref: Orphanet:2583 {source="MONDO:equivalentTo"} xref: SCTID:410039003 {source="MONDO:equivalentTo"} -xref: UMLS:C0024449 {source="Orphanet:2583", source="NCIT:C85505", source="MONDO:equivalentTo", source="ORDO:2583/e"} +xref: UMLS:C0024449 {source="Orphanet:2583", source="NCIT:C85505", source="MONDO:equivalentTo", source="Orphanet:2583/e"} is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C85505", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease is_a: MONDO:0019296 {source="https://github.com/monarch-initiative/mondo/issues/581"} ! subcutaneous tissue disorder relationship: disease_has_location UBERON:0002072 {source="disease_has_location UBERON:0002072 ! hypodermis"} ! hypodermis @@ -329111,18 +328952,18 @@ synonym: "multicentric myofibromatosis" EXACT [NCIT:C3742] synonym: "myofibromatosis" EXACT [NCIT:C3742] xref: DOID:0080109 {source="MONDO:equivalentTo"} xref: GARD:0002998 {source="MONDO:equivalentTo"} -xref: ICD10CM:D48.1 {source="Orphanet:2591", source="ORDO:2591/attributed", source="ORDO:2591/ntbt"} +xref: ICD10CM:D48.1 {source="Orphanet:2591/attributed", source="Orphanet:2591/ntbt", source="Orphanet:2591"} xref: ICDO:8824/1 {source="NCIT:C3742"} xref: MESH:D018224 {source="MONDO:equivalentTo"} xref: NCIT:C3742 {source="MONDO:equivalentTo"} -xref: OMIM:228550 {source="MONDO:superClassOf", source="DOID:0080109", source="Orphanet:2591", source="ORDO:2591/e"} -xref: OMIM:615293 {source="MONDO:superClassOf", source="DOID:0080109", source="Orphanet:2591", source="ORDO:2591/btnt"} +xref: OMIM:228550 {source="Orphanet:2591/e", source="MONDO:superClassOf", source="DOID:0080109", source="Orphanet:2591"} +xref: OMIM:615293 {source="MONDO:superClassOf", source="Orphanet:2591/btnt", source="DOID:0080109", source="Orphanet:2591"} xref: OMIMPS:228550 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: ONCOTREE:IMS {source="MONDO:equivalentTo"} xref: Orphanet:2591 {source="MONDO:equivalentTo", source="DOID:0080109"} xref: SCTID:254146000 {source="GARD:0002998", source="MONDO:superClassOf"} xref: UMLS:C0206648 {source="MONDO:equivalentTo", source="NCIT:C3742"} -xref: UMLS:C0432284 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2591", source="ORDO:2591/e"} +xref: UMLS:C0432284 {source="Orphanet:2591/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2591"} is_a: MONDO:0000654 {source="DOID:0080109", source="NCIT:C3742/inferred"} ! benign connective and soft tissue neoplasm is_a: MONDO:0003342 {source="NCIT:C3742"} ! benign perivascular tumor is_a: MONDO:0006424 {source="Orphanet:2591"} ! soft tissue neoplasm @@ -329145,11 +328986,11 @@ synonym: "mitochondrial myopathy with lactic acidosis" EXACT [MONDO:Lexical, OMI synonym: "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" EXACT [Orphanet:2597] synonym: "MMLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251950] xref: GARD:0003682 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="Orphanet:2597", source="ORDO:2597/attributed", source="ORDO:2597/ntbt"} -xref: MESH:C537476 {source="Orphanet:2597", source="ORDO:2597/e", source="MONDO:equivalentTo"} -xref: OMIM:251950 {source="Orphanet:2597", source="MONDO:equivalentTo", source="ORDO:2597/ntbt"} +xref: ICD10CM:G71.3 {source="Orphanet:2597", source="Orphanet:2597/attributed", source="Orphanet:2597/ntbt"} +xref: MESH:C537476 {source="Orphanet:2597", source="MONDO:equivalentTo", source="Orphanet:2597/e"} +xref: OMIM:251950 {source="Orphanet:2597", source="Orphanet:2597/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:2597 {source="MONDO:equivalentTo", source="OMIM:251950"} -xref: UMLS:C1855033 {source="Orphanet:2597", source="ORDO:2597/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:251950"} +xref: UMLS:C1855033 {source="Orphanet:2597", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2597/e", source="OMIM:251950"} is_a: MONDO:0009637 {source="MESH:C537476", source="MONDO:cjm"} ! inborn mitochondrial myopathy is_a: MONDO:0019589 {source="Orphanet:2597"} ! syndromic genetic hearing loss relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28900 {source="mim2gene_medgen"} ! PNPLA8 @@ -329166,15 +329007,15 @@ synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis" EX synonym: "methylmalonic acidemia and homocystinemia" RELATED [GARD:0003579] synonym: "methylmalonic aciduria with homocystinuria" EXACT [Orphanet:26] xref: GARD:0003579 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:26/attributed", source="ORDO:26/ntbt", source="Orphanet:26"} -xref: MESH:C537359 {source="ORDO:26/e", source="MONDO:equivalentTo", source="Orphanet:26"} -xref: OMIM:277380 {source="MONDO:superClassOf", source="ORDO:26/btnt", source="Orphanet:26"} -xref: OMIM:277400 {source="MONDO:superClassOf", source="ORDO:26/btnt", source="Orphanet:26"} -xref: OMIM:277410 {source="MONDO:superClassOf", source="ORDO:26/btnt", source="Orphanet:26"} -xref: OMIM:614857 {source="MONDO:superClassOf", source="ORDO:26/btnt", source="Orphanet:26"} +xref: ICD10CM:E71.1 {source="Orphanet:26", source="Orphanet:26/attributed", source="Orphanet:26/ntbt"} +xref: MESH:C537359 {source="MONDO:equivalentTo", source="Orphanet:26", source="Orphanet:26/e"} +xref: OMIM:277380 {source="MONDO:superClassOf", source="Orphanet:26", source="Orphanet:26/btnt"} +xref: OMIM:277400 {source="MONDO:superClassOf", source="Orphanet:26", source="Orphanet:26/btnt"} +xref: OMIM:277410 {source="MONDO:superClassOf", source="Orphanet:26", source="Orphanet:26/btnt"} +xref: OMIM:614857 {source="MONDO:superClassOf", source="Orphanet:26", source="Orphanet:26/btnt"} xref: OMIMPS:277400 {source="MONDO:equivalentTo"} xref: Orphanet:26 {source="MONDO:equivalentTo"} -xref: UMLS:C1848561 {source="ORDO:26/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:26"} +xref: UMLS:C1848561 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:26", source="Orphanet:26/e"} is_a: MONDO:0002012 {source="MONDO:Redundant"} ! methylmalonic acidemia is_a: MONDO:0004737 {source="MONDO:Redundant"} ! homocystinuria is_a: MONDO:0016624 ! inherited deficiency anemia @@ -329192,7 +329033,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3579/methylma id: MONDO:0016827 name: myopathy-growth delay-intellectual disability-hypospadias syndrome subset: ordo_malformation_syndrome {source="Orphanet:2601"} -xref: ICD10CM:G71.8 {source="ORDO:2601/attributed", source="ORDO:2601/ntbt", source="Orphanet:2601"} +xref: ICD10CM:G71.8 {source="Orphanet:2601", source="Orphanet:2601/attributed", source="Orphanet:2601/ntbt"} xref: Orphanet:2601 {source="MONDO:equivalentTo"} xref: UMLS:CN230273 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:2601"} ! syndromic intellectual disability @@ -329207,9 +329048,9 @@ subset: ordo_disease {source="Orphanet:260305"} synonym: "ARSA" EXACT ABBREVIATION [Orphanet:260305] synonym: "congenital sideroblastic anemia" BROAD [Orphanet:260305] synonym: "sideroblastic anemia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:D64.0 {source="ORDO:260305/attributed", source="ORDO:260305/ntbt", source="Orphanet:260305"} -xref: OMIM:182170 {source="MONDO:relatedTo", source="ORDO:260305/btnt", source="Orphanet:260305"} -xref: OMIM:205950 {source="MONDO:superClassOf", source="ORDO:260305/btnt", source="Orphanet:260305"} +xref: ICD10CM:D64.0 {source="Orphanet:260305/attributed", source="Orphanet:260305/ntbt", source="Orphanet:260305"} +xref: OMIM:182170 {source="MONDO:relatedTo", source="Orphanet:260305/btnt", source="Orphanet:260305"} +xref: OMIM:205950 {source="Orphanet:260305/btnt", source="MONDO:superClassOf", source="Orphanet:260305"} xref: Orphanet:260305 {source="MONDO:equivalentTo"} xref: SCTID:717050005 {source="MONDO:equivalentTo"} xref: UMLS:C4274077 {source="MONDO:equivalentTo"} @@ -329230,12 +329071,12 @@ synonym: "megaduodenum and/or megacystis" EXACT [Orphanet:2604] synonym: "pseudoobstruction idiopathic intestinal" RELATED [GARD:0003443] synonym: "visceral myopathy familial" RELATED [GARD:0003443] xref: GARD:0003443 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K56.0 {source="ORDO:2604/attributed", source="ORDO:2604/ntbt", source="Orphanet:2604"} +xref: ICD10CM:K56.0 {source="Orphanet:2604/attributed", source="Orphanet:2604/ntbt", source="Orphanet:2604"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:155310 {source="MONDO:subClassOf", source="ORDO:2604/ntbt", source="Orphanet:2604"} +xref: OMIM:155310 {source="MONDO:subClassOf", source="Orphanet:2604/ntbt", source="Orphanet:2604"} xref: Orphanet:2604 {source="MONDO:equivalentTo"} xref: SCTID:63684002 {source="MONDO:equivalentTo"} -xref: UMLS:C0266833 {source="MONDO:equivalentTo", source="ORDO:2604/e", source="Orphanet:2604"} +xref: UMLS:C0266833 {source="Orphanet:2604/e", source="MONDO:equivalentTo", source="Orphanet:2604"} xref: UMLS:C1835084 {source="MONDO:equivalentTo", source="Orphanet:2604"} xref: UMLS:CN202146 {source="MONDO:equivalentTo"} is_a: MONDO:0020754 {source="https://github.com/monarch-initiative/mondo/issues/2948", source="https://orcid.org/0000-0001-5493-2602"} ! visceral myopathy @@ -329254,22 +329095,22 @@ synonym: "Humeroperoneal neuromuscular disease, (formerly)" RELATED [GARD:000632 synonym: "scapuloperoneal syndrome, X-linked (formerly)" RELATED [GARD:0006329] xref: DOID:11726 {source="MONDO:equivalentTo"} xref: GARD:0006329 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:261/ntbt", source="Orphanet:261", source="ORDO:261/inclusion"} -xref: MESH:D020389 {source="MONDO:equivalentTo", source="DOID:11726", source="ORDO:261/e", source="Orphanet:261"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:261/inclusion", source="Orphanet:261", source="Orphanet:261/ntbt"} +xref: MESH:D020389 {source="MONDO:equivalentTo", source="DOID:11726", source="Orphanet:261", source="Orphanet:261/e"} xref: NCIT:C84685 {source="MONDO:equivalentTo", source="DOID:11726"} -xref: OMIM:181350 {source="ORDO:261/btnt", source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261"} -xref: OMIM:300696 {source="ORDO:261/btnt", source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261"} -xref: OMIM:310300 {source="ORDO:261/btnt", source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261"} -xref: OMIM:612998 {source="ORDO:261/btnt", source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261"} -xref: OMIM:612999 {source="ORDO:261/btnt", source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261"} -xref: OMIM:614302 {source="ORDO:261/btnt", source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261"} -xref: OMIM:616516 {source="ORDO:261/btnt", source="MONDO:superClassOf", source="Orphanet:261"} +xref: OMIM:181350 {source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} +xref: OMIM:300696 {source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} +xref: OMIM:310300 {source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} +xref: OMIM:612998 {source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} +xref: OMIM:612999 {source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} +xref: OMIM:614302 {source="DOID:11726", source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} +xref: OMIM:616516 {source="MONDO:superClassOf", source="Orphanet:261", source="Orphanet:261/btnt"} xref: OMIMPS:310300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:261 {source="MONDO:equivalentTo", source="DOID:11726"} xref: SCTID:111508004 {source="MONDO:equivalentTo", source="DOID:11726"} xref: SCTID:129620000 {source="DOID:11726", source="MONDO:superClassOf"} xref: SCTID:193233004 {source="DOID:11726"} -xref: UMLS:C0410189 {source="MONDO:equivalentTo", source="DOID:11726", source="ORDO:261/e", source="Orphanet:261", source="NCIT:C84685"} +xref: UMLS:C0410189 {source="MONDO:equivalentTo", source="DOID:11726", source="Orphanet:261", source="NCIT:C84685", source="Orphanet:261/e"} is_a: MONDO:0016106 {source="Orphanet:261"} ! progressive muscular dystrophy is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0019056 ! neuromuscular disease @@ -329282,7 +329123,7 @@ name: linear verrucous nevus syndrome subset: ordo_disease {source="Orphanet:2611"} synonym: "linear hamartoma syndrome" EXACT [Orphanet:2611] xref: GARD:0003259 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.5 {source="ORDO:2611/ntbt", source="Orphanet:2611"} +xref: ICD10CM:Q82.5 {source="Orphanet:2611", source="Orphanet:2611/ntbt"} xref: Orphanet:2611 {source="MONDO:equivalentTo"} xref: UMLS:CN202159 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:2611"} ! melanocytic nevus @@ -329311,7 +329152,7 @@ def: "14q12 microdeletion syndrome is a recently described syndrome characterize subset: ordo_malformation_syndrome {source="Orphanet:261144"} synonym: "Del(14)(q12)" EXACT [Orphanet:261144] synonym: "monosomy 14q12" EXACT [Orphanet:261144] -xref: ICD10CM:Q93.5 {source="ORDO:261144/attributed", source="ORDO:261144/ntbt", source="Orphanet:261144"} +xref: ICD10CM:Q93.5 {source="Orphanet:261144", source="Orphanet:261144/attributed", source="Orphanet:261144/ntbt"} xref: Orphanet:261144 {source="MONDO:equivalentTo"} xref: SCTID:719574007 {source="MONDO:equivalentTo"} xref: UMLS:C4305240 {source="MONDO:equivalentTo"} @@ -329359,7 +329200,7 @@ def: "16p13.11 microdeletion syndrome is a recently described syndrome character subset: ordo_malformation_syndrome {source="Orphanet:261236"} synonym: "Del(16)(p13.11)" EXACT [Orphanet:261236] synonym: "monosomy 16p13.11" EXACT [Orphanet:261236] -xref: ICD10CM:Q93.5 {source="ORDO:261236/attributed", source="ORDO:261236/ntbt", source="Orphanet:261236"} +xref: ICD10CM:Q93.5 {source="Orphanet:261236/attributed", source="Orphanet:261236/ntbt", source="Orphanet:261236"} xref: Orphanet:261236 {source="MONDO:equivalentTo"} xref: SCTID:719577000 {source="MONDO:equivalentTo"} xref: UMLS:C4304596 {source="MONDO:equivalentTo"} @@ -329398,7 +329239,7 @@ synonym: "chromosome 16q24.3 microdeletion syndrome" RELATED [GARD:0010935] synonym: "Del(16)(q24.3)" EXACT [Orphanet:261250] synonym: "monosomy 16q24.3" EXACT [Orphanet:261250] xref: GARD:0010935 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:261250", source="ORDO:261250/attributed", source="ORDO:261250/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261250/attributed", source="Orphanet:261250/ntbt", source="Orphanet:261250"} xref: Orphanet:261250 {source="MONDO:equivalentTo"} xref: SCTID:719580004 {source="MONDO:equivalentTo"} xref: UMLS:C4304594 {source="MONDO:equivalentTo"} @@ -329416,7 +329257,7 @@ def: "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the sh subset: ordo_malformation_syndrome {source="Orphanet:261257"} synonym: "distal del(17)(p13.3)" EXACT [Orphanet:261257] synonym: "distal monosomy 17p13.3" EXACT [Orphanet:261257] -xref: ICD10CM:Q93.5 {source="ORDO:261257/attributed", source="ORDO:261257/ntbt", source="Orphanet:261257"} +xref: ICD10CM:Q93.5 {source="Orphanet:261257", source="Orphanet:261257/attributed", source="Orphanet:261257/ntbt"} xref: Orphanet:261257 {source="MONDO:equivalentTo"} xref: SCTID:764696007 {source="MONDO:equivalentTo"} xref: UMLS:CN202175 {source="MONDO:equivalentTo"} @@ -329438,11 +329279,11 @@ synonym: "Duplication 17p" RELATED [GARD:0005318] synonym: "partial trisomy 17p" RELATED [GARD:0005318] synonym: "trisomy type 17p" EXACT [MONDORULE:4, Orphanet:261290] xref: GARD:0005318 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q92.2 {source="ORDO:261290/attributed", source="ORDO:261290/ntbt", source="Orphanet:261290"} +xref: ICD10CM:Q92.2 {source="Orphanet:261290/attributed", source="Orphanet:261290/ntbt", source="Orphanet:261290"} xref: MESH:C538048 {source="MONDO:equivalentTo"} xref: Orphanet:261290 {source="MONDO:equivalentTo"} xref: SCTID:717049005 {source="MONDO:equivalentTo"} -xref: UMLS:C0795865 {source="MONDO:equivalentTo", source="ORDO:261290/e", source="Orphanet:261290"} +xref: UMLS:C0795865 {source="Orphanet:261290/e", source="MONDO:equivalentTo", source="Orphanet:261290"} is_a: MONDO:0016950 {source="Orphanet:261290"} ! partial duplication of the short arm of chromosome 17 [Term] @@ -329454,7 +329295,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261295"} synonym: "Del(20)(p12.3)" EXACT [Orphanet:261295] synonym: "monosomy 20p12.3" EXACT [Orphanet:261295] xref: GARD:0012492 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:261295", source="ORDO:261295/attributed", source="ORDO:261295/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261295", source="Orphanet:261295/attributed", source="Orphanet:261295/ntbt"} xref: Orphanet:261295 {source="MONDO:equivalentTo"} xref: SCTID:719650004 {source="MONDO:equivalentTo"} xref: UMLS:C4304539 {source="MONDO:equivalentTo"} @@ -329474,7 +329315,7 @@ synonym: "paternal 20q13.2-q13.3 microdeletion syndrome" EXACT [Orphanet:261304] synonym: "paternal del(20)(q13.2q13.3)" EXACT [Orphanet:261304] synonym: "paternal monosomy 20q13.2-q13.3" EXACT [Orphanet:261304] synonym: "paternal monosomy 20q13.2q13.3" EXACT [Orphanet:261304] -xref: ICD10CM:Q93.5 {source="ORDO:261304/attributed", source="ORDO:261304/ntbt", source="Orphanet:261304"} +xref: ICD10CM:Q93.5 {source="Orphanet:261304/attributed", source="Orphanet:261304/ntbt", source="Orphanet:261304"} xref: Orphanet:261304 {source="MONDO:equivalentTo"} xref: SCTID:724070005 {source="MONDO:equivalentTo"} xref: UMLS:C4510306 {source="MONDO:equivalentTo"} @@ -329491,7 +329332,7 @@ def: "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial subset: ordo_malformation_syndrome {source="Orphanet:261311"} synonym: "Del(20)(q13.33)" EXACT [Orphanet:261311] synonym: "monosomy 20q13.33" EXACT [Orphanet:261311] -xref: ICD10CM:Q93.5 {source="ORDO:261311/attributed", source="ORDO:261311/ntbt", source="Orphanet:261311"} +xref: ICD10CM:Q93.5 {source="Orphanet:261311", source="Orphanet:261311/attributed", source="Orphanet:261311/ntbt"} xref: Orphanet:261311 {source="MONDO:equivalentTo"} xref: SCTID:733520002 {source="MONDO:equivalentTo"} xref: UMLS:C4518823 {source="MONDO:equivalentTo"} @@ -329521,13 +329362,13 @@ synonym: "partial trisomy of the short arm of chromosome 20" EXACT [Orphanet:261 synonym: "trisomy 20p" EXACT [GARD:0005333] synonym: "trisomy type 20p" EXACT [MONDORULE:4, Orphanet:261318] xref: GARD:0005333 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.2 {source="ORDO:261318/attributed", source="ORDO:261318/ntbt", source="Orphanet:261318"} +xref: ICD10CM:Q92.2 {source="Orphanet:261318/attributed", source="Orphanet:261318/ntbt", source="Orphanet:261318"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535371 {source="MONDO:equivalentTo"} xref: Orphanet:261318 {source="MONDO:equivalentTo"} xref: SCTID:111311004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265480 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:261318", source="ORDO:261318/e"} -xref: UMLS:C2930888 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005333", source="Orphanet:261318", source="ORDO:261318/e"} +xref: UMLS:C0265480 {source="Orphanet:261318/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:261318"} +xref: UMLS:C2930888 {source="Orphanet:261318/e", source="MONDO:notFoundInDiseaseSubset", source="GARD:0005333", source="Orphanet:261318"} is_a: MONDO:0016938 {source="Orphanet:261318"} ! partial trisomy of chromosome 20 [Term] @@ -329538,7 +329379,7 @@ synonym: "21q22.11-q22.12 microdeletion syndrome" EXACT [Orphanet:261323] synonym: "Del(21)(q22.11q22.12)" EXACT [Orphanet:261323] synonym: "monosomy 21q22.11-q22.12" EXACT [Orphanet:261323] synonym: "monosomy 21q22.11q22.12" EXACT [Orphanet:261323] -xref: ICD10CM:Q93.5 {source="ORDO:261323/attributed", source="ORDO:261323/ntbt", source="Orphanet:261323"} +xref: ICD10CM:Q93.5 {source="Orphanet:261323", source="Orphanet:261323/attributed", source="Orphanet:261323/ntbt"} xref: Orphanet:261323 {source="MONDO:equivalentTo"} xref: UMLS:CN202185 {source="MONDO:equivalentTo"} is_a: MONDO:0016919 {source="Orphanet:261323"} ! partial deletion of the long arm of chromosome 21 @@ -329570,7 +329411,7 @@ def: "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the part subset: ordo_malformation_syndrome {source="Orphanet:261344"} synonym: "Duplication 1q" EXACT [Orphanet:261344] synonym: "trisomy type 1q" EXACT [MONDORULE:4, Orphanet:261344] -xref: ICD10CM:Q92.2 {source="ORDO:261344/attributed", source="ORDO:261344/ntbt", source="Orphanet:261344"} +xref: ICD10CM:Q92.2 {source="Orphanet:261344", source="Orphanet:261344/attributed", source="Orphanet:261344/ntbt"} xref: Orphanet:261344 {source="MONDO:equivalentTo"} xref: SCTID:768927001 {source="MONDO:equivalentTo"} is_a: MONDO:0016952 {source="Orphanet:261344"} ! partial duplication of the long arm of chromosome 1 @@ -329589,7 +329430,7 @@ synonym: "juvenile giant cell arteritis" RELATED [GARD:0003068] synonym: "juvenile polymyalgia rheumatica" RELATED [GARD:0003068] synonym: "non-giant cell granulomatous temporal arteritis with eosinophilia" EXACT [Orphanet:26137] xref: GARD:0003068 {source="MONDO:equivalentTo"} -xref: ICD10CM:L95.8 {source="ORDO:26137/ntbt", source="Orphanet:26137"} +xref: ICD10CM:L95.8 {source="Orphanet:26137/ntbt", source="Orphanet:26137"} xref: Orphanet:26137 {source="MONDO:equivalentTo"} xref: SCTID:722020006 {source="MONDO:equivalentTo"} xref: UMLS:C0751547 {source="MONDO:equivalentTo", source="Orphanet:26137"} @@ -329610,7 +329451,7 @@ def: "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anoma subset: ordo_malformation_syndrome {source="Orphanet:261501"} synonym: "atypical Norrie disease due to del(X)(p11.3)" EXACT [Orphanet:261501] synonym: "atypical Norrie disease due to Xp11.3 microdeletion" EXACT [Orphanet:261501] -xref: ICD10CM:H35.5 {source="ORDO:261501/attributed", source="ORDO:261501/ntbt", source="MONDO:relatedTo", source="Orphanet:261501"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:261501", source="Orphanet:261501/attributed", source="Orphanet:261501/ntbt"} xref: Orphanet:261501 {source="MONDO:equivalentTo"} xref: SCTID:733626002 {source="MONDO:equivalentTo"} xref: UMLS:C4518083 {source="MONDO:equivalentTo"} @@ -329626,7 +329467,7 @@ name: maternal uniparental disomy of chromosome X subset: ordo_malformation_syndrome {source="Orphanet:261519"} synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261519] synonym: "UPD(X)mat" EXACT [Orphanet:261519] -xref: ICD10CM:Q99.8 {source="Orphanet:261519", source="ORDO:261519/attributed", source="ORDO:261519/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:261519/attributed", source="Orphanet:261519/ntbt", source="Orphanet:261519"} xref: Orphanet:261519 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human) @@ -329637,7 +329478,7 @@ name: paternal uniparental disomy of chromosome X subset: ordo_malformation_syndrome {source="Orphanet:261524"} synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261524] synonym: "UPD(X)pat" EXACT [Orphanet:261524] -xref: ICD10CM:Q99.8 {source="ORDO:261524/attributed", source="ORDO:261524/ntbt", source="Orphanet:261524"} +xref: ICD10CM:Q99.8 {source="Orphanet:261524/attributed", source="Orphanet:261524/ntbt", source="Orphanet:261524"} xref: Orphanet:261524 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human) @@ -329650,7 +329491,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261529"} synonym: "r(Y)" EXACT [Orphanet:261529] synonym: "Ring chromosome type Y" EXACT [MONDORULE:1, Orphanet:261529] synonym: "Ring chromosome Y syndrome" RELATED [Orphanet:261529] -xref: ICD10CM:Q98.6 {source="Orphanet:261529", source="ORDO:261529/attributed", source="ORDO:261529/ntbt"} +xref: ICD10CM:Q98.6 {source="Orphanet:261529", source="Orphanet:261529/attributed", source="Orphanet:261529/ntbt"} xref: Orphanet:261529 {source="MONDO:equivalentTo"} xref: SCTID:763407008 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder @@ -329665,7 +329506,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261534"} synonym: "49, XXXYY syndrome" RELATED [GARD:0010922] synonym: "XXXYY syndrome" RELATED [GARD:0010922] xref: GARD:0010922 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q98.8 {source="ORDO:261534/attributed", source="ORDO:261534/ntbt", source="Orphanet:261534"} +xref: ICD10CM:Q98.8 {source="Orphanet:261534", source="Orphanet:261534/attributed", source="Orphanet:261534/ntbt"} xref: Orphanet:261534 {source="MONDO:equivalentTo"} xref: UMLS:CN202197 {source="MONDO:equivalentTo"} is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy @@ -329684,7 +329525,7 @@ synonym: "Hirschsprung disease and intellectual disability due to monosomy 2q22" synonym: "Mowat-Wilson syndrome due to 2q22 microdeletion" EXACT [Orphanet:261537] synonym: "Mowat-Wilson syndrome due to del(2)q(22)" EXACT [Orphanet:261537] synonym: "Mowat-Wilson syndrome due to monosomy type 2q22" EXACT [MONDORULE:7, Orphanet:261537] -xref: ICD10CM:Q43.1 {source="ORDO:261537/attributed", source="ORDO:261537/ntbt", source="Orphanet:261537"} +xref: ICD10CM:Q43.1 {source="Orphanet:261537/attributed", source="Orphanet:261537/ntbt", source="Orphanet:261537"} xref: Orphanet:261537 {source="MONDO:equivalentTo"} xref: UMLS:CN202198 {source="MONDO:equivalentTo"} is_a: MONDO:0009341 {source="Orphanet:261537"} ! Mowat-Wilson syndrome @@ -329698,7 +329539,7 @@ id: MONDO:0016856 name: Mowat-Wilson syndrome due to a ZEB2 point mutation subset: ordo_etiological_subtype {source="Orphanet:261552"} synonym: "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation" EXACT [Orphanet:261552] -xref: ICD10CM:Q43.1 {source="ORDO:261552/attributed", source="ORDO:261552/ntbt", source="Orphanet:261552"} +xref: ICD10CM:Q43.1 {source="Orphanet:261552", source="Orphanet:261552/attributed", source="Orphanet:261552/ntbt"} xref: Orphanet:261552 {source="MONDO:equivalentTo"} xref: UMLS:CN202199 {source="MONDO:equivalentTo"} is_a: MONDO:0009341 {source="Orphanet:261552"} ! Mowat-Wilson syndrome @@ -329709,7 +329550,7 @@ id: MONDO:0016857 name: blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome def: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." [Orphanet:261559] subset: ordo_etiological_subtype {source="Orphanet:261559"} -xref: ICD10CM:Q10.3 {source="ORDO:261559/attributed", source="ORDO:261559/ntbt", source="Orphanet:261559"} +xref: ICD10CM:Q10.3 {source="Orphanet:261559/attributed", source="Orphanet:261559/ntbt", source="Orphanet:261559"} xref: OMIM:110100 {source="MONDO:subClassOf", source="Orphanet:261559"} xref: Orphanet:261559 {source="MONDO:equivalentTo"} xref: UMLS:CN202200 {source="MONDO:equivalentTo"} @@ -329727,7 +329568,7 @@ name: blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndro def: "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." [Orphanet:261572] subset: ordo_etiological_subtype {source="Orphanet:261572"} synonym: "blepharophimosis types 1 and 2 due to a point mutation" EXACT [Orphanet:261572] -xref: ICD10CM:Q10.3 {source="Orphanet:261572", source="ORDO:261572/attributed", source="ORDO:261572/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:261572/attributed", source="Orphanet:261572/ntbt", source="Orphanet:261572"} xref: OMIM:110100 {source="MONDO:subClassOf", source="Orphanet:261572"} xref: Orphanet:261572 {source="MONDO:equivalentTo"} xref: UMLS:CN202201 {source="MONDO:equivalentTo"} @@ -329743,7 +329584,7 @@ def: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expans subset: ordo_etiological_subtype {source="Orphanet:261579"} synonym: "blepharophimosis types 1 and 2 due to copy number variations" EXACT [Orphanet:261579] synonym: "blepharophimosis-epicanthus inversus-ptosis due to a CNV" EXACT [Orphanet:261579] -xref: ICD10CM:Q10.3 {source="ORDO:261579/attributed", source="ORDO:261579/ntbt", source="Orphanet:261579"} +xref: ICD10CM:Q10.3 {source="Orphanet:261579/attributed", source="Orphanet:261579/ntbt", source="Orphanet:261579"} xref: OMIM:110100 {source="MONDO:subClassOf", source="Orphanet:261579"} xref: Orphanet:261579 {source="MONDO:equivalentTo"} xref: UMLS:CN202202 {source="MONDO:equivalentTo"} @@ -329761,7 +329602,7 @@ synonym: "familial adenomatous polyposis due to del(5)(q22.2)" EXACT [Orphanet:2 synonym: "familial adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584] synonym: "familial polyposis coli due to monosomy 5q22.2" EXACT [Orphanet:261584] synonym: "FAP due to monosomy 5q22.2" EXACT [Orphanet:261584] -xref: ICD10CM:D12.6 {source="ORDO:261584/attributed", source="ORDO:261584/ntbt", source="Orphanet:261584"} +xref: ICD10CM:D12.6 {source="Orphanet:261584", source="Orphanet:261584/attributed", source="Orphanet:261584/ntbt"} xref: Orphanet:261584 {source="MONDO:equivalentTo"} xref: UMLS:CN202203 {source="MONDO:equivalentTo"} is_a: MONDO:0016904 {source="Orphanet:261584"} ! partial deletion of the long arm of chromosome 5 @@ -329779,8 +329620,8 @@ synonym: "Alagille syndrome due to monosomy 20p12" EXACT [Orphanet:261600] synonym: "Alagille-Watson syndrome due to monosomy 20p12" EXACT [Orphanet:261600] synonym: "Arteriohepatic dysplasia due to monosomy 20p12" EXACT [Orphanet:261600] synonym: "syndromic bile duct paucity due to monosomy 20p12" EXACT [Orphanet:261600] -xref: ICD10CM:Q44.7 {source="ORDO:261600/attributed", source="ORDO:261600/ntbt", source="Orphanet:261600"} -xref: OMIM:118450 {source="MONDO:subClassOf", source="ORDO:261600/ntbt", source="Orphanet:261600", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q44.7 {source="Orphanet:261600", source="Orphanet:261600/attributed", source="Orphanet:261600/ntbt"} +xref: OMIM:118450 {source="MONDO:subClassOf", source="Orphanet:261600", source="Orphanet:261600/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:261600 {source="MONDO:equivalentTo"} xref: UMLS:CN202205 {source="MONDO:equivalentTo"} is_a: MONDO:0007318 {source="Orphanet:261600"} ! Alagille syndrome @@ -329805,8 +329646,8 @@ synonym: "arteriohepatic dysplasia due to a JAG1 point mutation" EXACT [Orphanet synonym: "cholestasis with peripheral pulmonary stenosis" RELATED [OMIM:118450] synonym: "hepatic ductular hypoplasia, syndromatic" RELATED [OMIM:118450] synonym: "syndromic bile duct paucity due to a JAG1 point mutation" EXACT [Orphanet:261619] -xref: ICD10CM:Q44.7 {source="Orphanet:261619", source="ORDO:261619/attributed", source="ORDO:261619/ntbt"} -xref: OMIM:118450 {source="Orphanet:261619", source="MONDO:equivalentTo", source="ORDO:261619/ntbt"} +xref: ICD10CM:Q44.7 {source="Orphanet:261619", source="Orphanet:261619/attributed", source="Orphanet:261619/ntbt"} +xref: OMIM:118450 {source="Orphanet:261619", source="Orphanet:261619/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:261619 {source="MONDO:equivalentTo"} xref: UMLS:C1956125 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:118450"} xref: UMLS:CN202206 {source="MONDO:equivalentTo"} @@ -329822,7 +329663,7 @@ subset: ordo_etiological_subtype {source="Orphanet:261638"} synonym: "Duane-radial ray syndrome due to monosomy 20q13" EXACT [Orphanet:261638] synonym: "Okihiro syndrome due to del(20)(q13)" EXACT [Orphanet:261638] synonym: "Okihiro syndrome due to monosomy 20q13" EXACT [Orphanet:261638] -xref: ICD10CM:Q87.8 {source="Orphanet:261638", source="ORDO:261638/attributed", source="ORDO:261638/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:261638", source="Orphanet:261638/attributed", source="Orphanet:261638/ntbt"} xref: Orphanet:261638 {source="MONDO:equivalentTo"} xref: UMLS:CN202208 {source="MONDO:equivalentTo"} is_a: MONDO:0011812 {source="Orphanet:261638"} ! Duane-radial ray syndrome @@ -329836,7 +329677,7 @@ id: MONDO:0016864 name: Okihiro syndrome due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:261647"} synonym: "Duane-radial ray syndrome due to a point mutation" EXACT [Orphanet:261647] -xref: ICD10CM:Q87.8 {source="ORDO:261647/attributed", source="ORDO:261647/ntbt", source="Orphanet:261647"} +xref: ICD10CM:Q87.8 {source="Orphanet:261647/attributed", source="Orphanet:261647/ntbt", source="Orphanet:261647"} xref: Orphanet:261647 {source="MONDO:equivalentTo"} xref: UMLS:CN202209 {source="MONDO:equivalentTo"} is_a: MONDO:0011812 {source="Orphanet:261647"} ! Duane-radial ray syndrome @@ -329846,7 +329687,7 @@ relationship: has_modifier SO:1000008 ! point_mutation id: MONDO:0016865 name: Kleefstra syndrome due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:261652"} -xref: ICD10CM:Q87.8 {source="ORDO:261652/attributed", source="ORDO:261652/ntbt", source="Orphanet:261652"} +xref: ICD10CM:Q87.8 {source="Orphanet:261652", source="Orphanet:261652/attributed", source="Orphanet:261652/ntbt"} xref: Orphanet:261652 {source="MONDO:equivalentTo"} xref: UMLS:CN202210 {source="MONDO:equivalentTo"} is_a: MONDO:0012455 {source="Orphanet:261652"} ! Kleefstra syndrome @@ -329859,7 +329700,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261766"} synonym: "partial deletion of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261766] synonym: "partial monosomy of chromosome 1" EXACT [Orphanet:261766] -xref: ICD10CM:Q93.5 {source="ORDO:261766/attributed", source="ORDO:261766/ntbt", source="Orphanet:261766"} +xref: ICD10CM:Q93.5 {source="Orphanet:261766/attributed", source="Orphanet:261766/ntbt", source="Orphanet:261766"} xref: Orphanet:261766 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human) @@ -329872,7 +329713,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261771"} synonym: "partial deletion of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261771] synonym: "partial monosomy of chromosome 2" EXACT [Orphanet:261771] -xref: ICD10CM:Q93.5 {source="ORDO:261771/attributed", source="ORDO:261771/ntbt", source="Orphanet:261771"} +xref: ICD10CM:Q93.5 {source="Orphanet:261771", source="Orphanet:261771/attributed", source="Orphanet:261771/ntbt"} xref: Orphanet:261771 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr2 ! chromosome 2 (Human) @@ -329885,7 +329726,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261776"} synonym: "partial deletion of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261776] synonym: "partial monosomy of chromosome 3" EXACT [Orphanet:261776] -xref: ICD10CM:Q93.5 {source="ORDO:261776/attributed", source="ORDO:261776/ntbt", source="Orphanet:261776"} +xref: ICD10CM:Q93.5 {source="Orphanet:261776", source="Orphanet:261776/attributed", source="Orphanet:261776/ntbt"} xref: Orphanet:261776 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr3 ! chromosome 3 (Human) @@ -329922,7 +329763,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261791"} synonym: "partial deletion of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261791] synonym: "partial monosomy of chromosome 6" EXACT [Orphanet:261791] -xref: ICD10CM:Q93.5 {source="Orphanet:261791", source="ORDO:261791/attributed", source="ORDO:261791/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261791/attributed", source="Orphanet:261791/ntbt", source="Orphanet:261791"} xref: Orphanet:261791 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human) @@ -329935,7 +329776,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261796"} synonym: "partial deletion of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261796] synonym: "partial monosomy of chromosome 7" EXACT [Orphanet:261796] -xref: ICD10CM:Q93.5 {source="ORDO:261796/attributed", source="ORDO:261796/ntbt", source="Orphanet:261796"} +xref: ICD10CM:Q93.5 {source="Orphanet:261796", source="Orphanet:261796/attributed", source="Orphanet:261796/ntbt"} xref: Orphanet:261796 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human) @@ -329948,7 +329789,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261801"} synonym: "partial deletion of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261801] synonym: "partial monosomy of chromosome 8" EXACT [Orphanet:261801] -xref: ICD10CM:Q93.5 {source="ORDO:261801/attributed", source="ORDO:261801/ntbt", source="Orphanet:261801"} +xref: ICD10CM:Q93.5 {source="Orphanet:261801/attributed", source="Orphanet:261801/ntbt", source="Orphanet:261801"} xref: Orphanet:261801 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human) @@ -329961,7 +329802,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261806"} synonym: "partial deletion of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261806] synonym: "partial monosomy of chromosome 9" EXACT [Orphanet:261806] -xref: ICD10CM:Q93.5 {source="Orphanet:261806", source="ORDO:261806/attributed", source="ORDO:261806/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261806", source="Orphanet:261806/attributed", source="Orphanet:261806/ntbt"} xref: Orphanet:261806 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human) @@ -329986,7 +329827,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261816"} synonym: "partial deletion of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261816] synonym: "partial monosomy of chromosome 11" EXACT [Orphanet:261816] -xref: ICD10CM:Q93.5 {source="Orphanet:261816", source="ORDO:261816/attributed", source="ORDO:261816/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261816/attributed", source="Orphanet:261816/ntbt", source="Orphanet:261816"} xref: Orphanet:261816 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr11 ! chromosome 11 (Human) @@ -330001,7 +329842,7 @@ synonym: "partial deletion of chromosome 12q" EXACT [Orphanet:261821] synonym: "partial deletion of the long arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:261821] synonym: "partial monosomy of chromosome 12q" EXACT [Orphanet:261821] synonym: "partial monosomy of the long arm of chromosome 12" EXACT [Orphanet:261821] -xref: ICD10CM:Q93.5 {source="ORDO:261821/attributed", source="ORDO:261821/ntbt", source="Orphanet:261821"} +xref: ICD10CM:Q93.5 {source="Orphanet:261821/attributed", source="Orphanet:261821/ntbt", source="Orphanet:261821"} xref: Orphanet:261821 {source="MONDO:equivalentTo"} is_a: MONDO:0017277 {source="Orphanet:261821"} ! partial deletion of chromosome 12 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330015,7 +329856,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261826"} synonym: "partial deletion of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261826] synonym: "partial monosomy of chromosome 16" EXACT [Orphanet:261826] -xref: ICD10CM:Q93.5 {source="Orphanet:261826", source="ORDO:261826/attributed", source="ORDO:261826/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261826", source="Orphanet:261826/attributed", source="Orphanet:261826/ntbt"} xref: Orphanet:261826 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human) @@ -330028,7 +329869,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261831"} synonym: "partial deletion of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261831] synonym: "partial monosomy of chromosome 17" EXACT [Orphanet:261831] -xref: ICD10CM:Q93.5 {source="ORDO:261831/attributed", source="ORDO:261831/ntbt", source="Orphanet:261831"} +xref: ICD10CM:Q93.5 {source="Orphanet:261831", source="Orphanet:261831/attributed", source="Orphanet:261831/ntbt"} xref: Orphanet:261831 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human) @@ -330041,7 +329882,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261836"} synonym: "partial deletion of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261836] synonym: "partial monosomy of chromosome 18" EXACT [Orphanet:261836] -xref: ICD10CM:Q93.5 {source="Orphanet:261836", source="ORDO:261836/attributed", source="ORDO:261836/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261836", source="Orphanet:261836/attributed", source="Orphanet:261836/ntbt"} xref: Orphanet:261836 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human) @@ -330054,7 +329895,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261841"} synonym: "partial deletion of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261841] synonym: "partial monosomy of chromosome 19" EXACT [Orphanet:261841] -xref: ICD10CM:Q93.5 {source="ORDO:261841/attributed", source="ORDO:261841/ntbt", source="Orphanet:261841"} +xref: ICD10CM:Q93.5 {source="Orphanet:261841/attributed", source="Orphanet:261841/ntbt", source="Orphanet:261841"} xref: Orphanet:261841 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr19 ! chromosome 19 (Human) @@ -330067,7 +329908,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261846"} synonym: "partial deletion of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261846] synonym: "partial monosomy of chromosome 20" EXACT [Orphanet:261846] -xref: ICD10CM:Q93.5 {source="ORDO:261846/attributed", source="ORDO:261846/ntbt", source="Orphanet:261846"} +xref: ICD10CM:Q93.5 {source="Orphanet:261846/attributed", source="Orphanet:261846/ntbt", source="Orphanet:261846"} xref: Orphanet:261846 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human) @@ -330093,7 +329934,7 @@ synonym: "partial monosomy 1p" RELATED [GARD:0003730] synonym: "partial monosomy of chromosome 1p" EXACT [Orphanet:261857] synonym: "partial monosomy of the short arm of chromosome 1" EXACT [Orphanet:261857] xref: GARD:0003730 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:261857/attributed", source="ORDO:261857/ntbt", source="Orphanet:261857"} +xref: ICD10CM:Q93.5 {source="Orphanet:261857/attributed", source="Orphanet:261857/ntbt", source="Orphanet:261857"} xref: MESH:C535591 {source="MONDO:equivalentTo"} xref: NCIT:C36501 {source="MONDO:equivalentTo"} xref: Orphanet:261857 {source="MONDO:equivalentTo"} @@ -330112,7 +329953,7 @@ synonym: "partial deletion of chromosome 2p" EXACT [Orphanet:261866] synonym: "partial deletion of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261866] synonym: "partial monosomy of chromosome 2p" EXACT [Orphanet:261866] synonym: "partial monosomy of the short arm of chromosome 2" EXACT [Orphanet:261866] -xref: ICD10CM:Q93.5 {source="Orphanet:261866", source="ORDO:261866/attributed", source="ORDO:261866/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261866/attributed", source="Orphanet:261866/ntbt", source="Orphanet:261866"} xref: Orphanet:261866 {source="MONDO:equivalentTo"} is_a: MONDO:0016867 {source="Orphanet:261866"} ! partial deletion of chromosome 2 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330128,7 +329969,7 @@ synonym: "partial deletion of chromosome 3p" EXACT [Orphanet:261875] synonym: "partial deletion of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261875] synonym: "partial monosomy of chromosome 3p" EXACT [Orphanet:261875] synonym: "partial monosomy of the short arm of chromosome 3" EXACT [Orphanet:261875] -xref: ICD10CM:Q93.5 {source="ORDO:261875/attributed", source="ORDO:261875/ntbt", source="Orphanet:261875"} +xref: ICD10CM:Q93.5 {source="Orphanet:261875", source="Orphanet:261875/attributed", source="Orphanet:261875/ntbt"} xref: Orphanet:261875 {source="MONDO:equivalentTo"} is_a: MONDO:0016868 {source="Orphanet:261875"} ! partial deletion of chromosome 3 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330152,7 +329993,7 @@ synonym: "partial deletion of chromosome 5p" EXACT [Orphanet:261893] synonym: "partial deletion of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261893] synonym: "partial monosomy of chromosome 5p" EXACT [Orphanet:261893] synonym: "partial monosomy of the short arm of chromosome 5" EXACT [Orphanet:261893] -xref: ICD10CM:Q93.4 {source="Orphanet:261893", source="ORDO:261893/e", source="ORDO:261893/specific"} +xref: ICD10CM:Q93.4 {source="Orphanet:261893", source="Orphanet:261893/specific", source="Orphanet:261893/e"} xref: Orphanet:261893 {source="MONDO:equivalentTo"} xref: UMLS:C0010314 {source="Orphanet:261893", source="MONDO:superClassOf"} is_a: MONDO:0016870 {source="Orphanet:261893"} ! partial deletion of chromosome 5 @@ -330169,7 +330010,7 @@ synonym: "partial deletion of chromosome 6p" EXACT [Orphanet:261902] synonym: "partial deletion of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261902] synonym: "partial monosomy of chromosome 6p" EXACT [Orphanet:261902] synonym: "partial monosomy of the short arm of chromosome 6" EXACT [Orphanet:261902] -xref: ICD10CM:Q93.5 {source="Orphanet:261902", source="ORDO:261902/attributed", source="ORDO:261902/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261902", source="Orphanet:261902/attributed", source="Orphanet:261902/ntbt"} xref: Orphanet:261902 {source="MONDO:equivalentTo"} is_a: MONDO:0016871 {source="Orphanet:261902"} ! partial deletion of chromosome 6 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330194,7 +330035,7 @@ synonym: "partial monosomy 7p" RELATED [GARD:0001346] synonym: "partial monosomy of chromosome 7p" EXACT [Orphanet:261911] synonym: "partial monosomy of the short arm of chromosome 7" EXACT [Orphanet:261911] xref: GARD:0001346 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:261911/attributed", source="ORDO:261911/ntbt", source="Orphanet:261911"} +xref: ICD10CM:Q93.5 {source="Orphanet:261911/attributed", source="Orphanet:261911/ntbt", source="Orphanet:261911"} xref: Orphanet:261911 {source="MONDO:equivalentTo"} is_a: MONDO:0016872 {source="Orphanet:261911"} ! partial deletion of chromosome 7 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330219,12 +330060,12 @@ synonym: "partial monosomy 8p" RELATED [GARD:0003768] synonym: "partial monosomy of chromosome 8p" EXACT [Orphanet:261920] synonym: "partial monosomy of the short arm of chromosome 8" EXACT [Orphanet:261920] xref: GARD:0003768 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:261920/attributed", source="ORDO:261920/ntbt", source="Orphanet:261920"} +xref: ICD10CM:Q93.5 {source="Orphanet:261920/attributed", source="Orphanet:261920/ntbt", source="Orphanet:261920"} xref: MESH:C537826 {source="MONDO:equivalentTo"} xref: Orphanet:261920 {source="MONDO:equivalentTo"} xref: UMLS:C0795824 {source="GARD:0003768", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931634 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:261920"} -xref: UMLS:C2931635 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:261920/e", source="Orphanet:261920"} +xref: UMLS:C2931635 {source="Orphanet:261920/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:261920"} is_a: MONDO:0016873 {source="Orphanet:261920"} ! partial deletion of chromosome 8 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr8p ! 8p (Human) @@ -330248,9 +330089,9 @@ synonym: "partial deletion of chromosome 10p" EXACT [Orphanet:261938] synonym: "partial deletion of the short arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:261938] synonym: "partial monosomy of chromosome 10p" EXACT [Orphanet:261938] synonym: "partial monosomy of the short arm of chromosome 10" EXACT [Orphanet:261938] -xref: ICD10CM:Q93.5 {source="Orphanet:261938", source="ORDO:261938/attributed", source="ORDO:261938/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261938", source="Orphanet:261938/attributed", source="Orphanet:261938/ntbt"} xref: Orphanet:261938 {source="MONDO:equivalentTo"} -xref: UMLS:C0795836 {source="Orphanet:261938", source="ORDO:261938/e", source="MONDO:equivalentTo"} +xref: UMLS:C0795836 {source="Orphanet:261938", source="MONDO:equivalentTo", source="Orphanet:261938/e"} is_a: MONDO:0016875 {source="Orphanet:261938"} ! partial deletion of chromosome 10 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr10p ! 10p (Human) @@ -330265,7 +330106,7 @@ synonym: "partial deletion of chromosome 11p" EXACT [Orphanet:261947] synonym: "partial deletion of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261947] synonym: "partial monosomy of chromosome 11p" EXACT [Orphanet:261947] synonym: "partial monosomy of the short arm of chromosome 11" EXACT [Orphanet:261947] -xref: ICD10CM:Q93.5 {source="Orphanet:261947", source="ORDO:261947/attributed", source="ORDO:261947/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261947", source="Orphanet:261947/attributed", source="Orphanet:261947/ntbt"} xref: Orphanet:261947 {source="MONDO:equivalentTo"} is_a: MONDO:0016876 {source="Orphanet:261947"} ! partial deletion of chromosome 11 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330281,7 +330122,7 @@ synonym: "partial deletion of chromosome 16p" EXACT [Orphanet:261956] synonym: "partial deletion of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261956] synonym: "partial monosomy of chromosome 16p" EXACT [Orphanet:261956] synonym: "partial monosomy of the short arm of chromosome 16" EXACT [Orphanet:261956] -xref: ICD10CM:Q93.5 {source="ORDO:261956/attributed", source="ORDO:261956/ntbt", source="Orphanet:261956"} +xref: ICD10CM:Q93.5 {source="Orphanet:261956/attributed", source="Orphanet:261956/ntbt", source="Orphanet:261956"} xref: Orphanet:261956 {source="MONDO:equivalentTo"} is_a: MONDO:0016878 {source="Orphanet:261956"} ! partial deletion of chromosome 16 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330313,7 +330154,7 @@ synonym: "partial deletion of chromosome 19p" EXACT [Orphanet:261983] synonym: "partial deletion of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261983] synonym: "partial monosomy of chromosome 19p" EXACT [Orphanet:261983] synonym: "partial monosomy of the short arm of chromosome 19" EXACT [Orphanet:261983] -xref: ICD10CM:Q93.5 {source="ORDO:261983/attributed", source="ORDO:261983/ntbt", source="Orphanet:261983"} +xref: ICD10CM:Q93.5 {source="Orphanet:261983", source="Orphanet:261983/attributed", source="Orphanet:261983/ntbt"} xref: Orphanet:261983 {source="MONDO:equivalentTo"} is_a: MONDO:0016881 {source="Orphanet:261983"} ! partial deletion of chromosome 19 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330338,7 +330179,7 @@ synonym: "partial monosomy of chromosome 20p" EXACT [Orphanet:261992] synonym: "partial monosomy of the short arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261992] synonym: "Pure partial 20p deletion" EXACT [Orphanet:261992] xref: GARD:0003739 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:261992/attributed", source="ORDO:261992/ntbt", source="Orphanet:261992"} +xref: ICD10CM:Q93.5 {source="Orphanet:261992", source="Orphanet:261992/attributed", source="Orphanet:261992/ntbt"} xref: MESH:C535370 {source="MONDO:equivalentTo"} xref: Orphanet:1611 {source="GARD:0003739"} xref: Orphanet:261992 {source="MONDO:equivalentTo"} @@ -330356,7 +330197,7 @@ def: "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular d subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:262"} synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [Orphanet:262] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:262/ntbt", source="Orphanet:262", source="ORDO:262/inclusion"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:262/inclusion", source="Orphanet:262/ntbt", source="Orphanet:262"} xref: Orphanet:262 {source="MONDO:equivalentTo"} xref: UMLS:C0917713 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:262"} xref: UMLS:C3542021 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:262"} @@ -330391,7 +330232,7 @@ synonym: "partial monosomy 2q" RELATED [GARD:0003744] synonym: "partial monosomy of chromosome 2q" EXACT [Orphanet:262010] synonym: "partial monosomy of the long arm of chromosome 2" EXACT [Orphanet:262010] xref: GARD:0003744 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:262010", source="ORDO:262010/attributed", source="ORDO:262010/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262010", source="Orphanet:262010/attributed", source="Orphanet:262010/ntbt"} xref: MESH:C538315 {source="MONDO:equivalentTo"} xref: Orphanet:262010 {source="MONDO:equivalentTo"} xref: UMLS:C0795804 {source="Orphanet:262010", source="GARD:0003744", source="MONDO:equivalentTo"} @@ -330409,7 +330250,7 @@ synonym: "partial deletion of chromosome 3q" EXACT [Orphanet:262019] synonym: "partial deletion of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262019] synonym: "partial monosomy of chromosome 3q" EXACT [Orphanet:262019] synonym: "partial monosomy of the long arm of chromosome 3" EXACT [Orphanet:262019] -xref: ICD10CM:Q93.5 {source="ORDO:262019/attributed", source="ORDO:262019/ntbt", source="Orphanet:262019"} +xref: ICD10CM:Q93.5 {source="Orphanet:262019/attributed", source="Orphanet:262019/ntbt", source="Orphanet:262019"} xref: Orphanet:262019 {source="MONDO:equivalentTo"} is_a: MONDO:0016868 {source="Orphanet:262019"} ! partial deletion of chromosome 3 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330434,7 +330275,7 @@ synonym: "partial monosomy 4q" RELATED [GARD:0001340] synonym: "partial monosomy of chromosome 4q" EXACT [Orphanet:262029] synonym: "partial monosomy of the long arm of chromosome 4" EXACT [Orphanet:262029] xref: GARD:0001340 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:262029/attributed", source="ORDO:262029/ntbt", source="Orphanet:262029"} +xref: ICD10CM:Q93.5 {source="Orphanet:262029", source="Orphanet:262029/attributed", source="Orphanet:262029/ntbt"} xref: MESH:C537639 {source="MONDO:equivalentTo"} xref: Orphanet:262029 {source="MONDO:equivalentTo"} xref: UMLS:C0265404 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:262029"} @@ -330452,7 +330293,7 @@ synonym: "partial deletion of chromosome 5q" EXACT [Orphanet:262038] synonym: "partial deletion of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262038] synonym: "partial monosomy of chromosome 5q" EXACT [Orphanet:262038] synonym: "partial monosomy of the long arm of chromosome 5" EXACT [Orphanet:262038] -xref: ICD10CM:Q93.5 {source="ORDO:262038/attributed", source="ORDO:262038/ntbt", source="Orphanet:262038"} +xref: ICD10CM:Q93.5 {source="Orphanet:262038", source="Orphanet:262038/attributed", source="Orphanet:262038/ntbt"} xref: Orphanet:262038 {source="MONDO:equivalentTo"} xref: UMLS:C0740302 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:262038"} is_a: MONDO:0016870 {source="Orphanet:262038"} ! partial deletion of chromosome 5 @@ -330478,7 +330319,7 @@ synonym: "partial monosomy 6q" RELATED [GARD:0003760] synonym: "partial monosomy of chromosome 6q" EXACT [Orphanet:262047] synonym: "partial monosomy of the long arm of chromosome 6" EXACT [Orphanet:262047] xref: GARD:0003760 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:262047/attributed", source="ORDO:262047/ntbt", source="Orphanet:262047"} +xref: ICD10CM:Q93.5 {source="Orphanet:262047", source="Orphanet:262047/attributed", source="Orphanet:262047/ntbt"} xref: MESH:C537807 {source="MONDO:equivalentTo"} xref: Orphanet:262047 {source="MONDO:equivalentTo"} xref: UMLS:C0795816 {source="MONDO:equivalentTo", source="Orphanet:262047", source="GARD:0003760"} @@ -330506,7 +330347,7 @@ synonym: "partial monosomy 7q" RELATED [GARD:0003765] synonym: "partial monosomy of chromosome 7q" EXACT [Orphanet:262056] synonym: "partial monosomy of the long arm of chromosome 7" EXACT [Orphanet:262056] xref: GARD:0003765 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:262056", source="ORDO:262056/attributed", source="ORDO:262056/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262056/attributed", source="Orphanet:262056/ntbt", source="Orphanet:262056"} xref: NCIT:C36408 {source="MONDO:equivalentTo"} xref: Orphanet:262056 {source="MONDO:equivalentTo"} xref: UMLS:C1513483 {source="GARD:0003765", source="MONDO:notFoundInDiseaseSubset"} @@ -330533,7 +330374,7 @@ synonym: "partial monosomy 8q" RELATED [GARD:0003770] synonym: "partial monosomy of chromosome 8q" EXACT [Orphanet:262065] synonym: "partial monosomy of the long arm of chromosome 8" EXACT [Orphanet:262065] xref: GARD:0003770 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:262065", source="ORDO:262065/attributed", source="ORDO:262065/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262065", source="Orphanet:262065/attributed", source="Orphanet:262065/ntbt"} xref: MESH:C537828 {source="MONDO:equivalentTo"} xref: Orphanet:262065 {source="MONDO:equivalentTo"} xref: UMLS:C0795828 {source="Orphanet:262065", source="MONDO:equivalentTo", source="GARD:0003770"} @@ -330551,7 +330392,7 @@ synonym: "partial deletion of chromosome 9q" EXACT [Orphanet:262074] synonym: "partial deletion of the long arm of chromosome 9" EXACT [Orphanet:262074] synonym: "partial monosomy of chromosome 9q" EXACT [Orphanet:262074] synonym: "partial monosomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262074] -xref: ICD10CM:Q93.5 {source="Orphanet:262074", source="ORDO:262074/attributed", source="ORDO:262074/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262074", source="Orphanet:262074/attributed", source="Orphanet:262074/ntbt"} xref: Orphanet:262074 {source="MONDO:equivalentTo"} is_a: MONDO:0016874 {source="Orphanet:262074"} ! partial deletion of chromosome 9 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330567,7 +330408,7 @@ synonym: "partial deletion of chromosome 10q" EXACT [Orphanet:262083] synonym: "partial deletion of the long arm of chromosome 10" EXACT [Orphanet:262083] synonym: "partial monosomy of chromosome 10q" EXACT [Orphanet:262083] synonym: "partial monosomy of the long arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:262083] -xref: ICD10CM:Q93.5 {source="ORDO:262083/attributed", source="ORDO:262083/ntbt", source="Orphanet:262083"} +xref: ICD10CM:Q93.5 {source="Orphanet:262083/attributed", source="Orphanet:262083/ntbt", source="Orphanet:262083"} xref: Orphanet:262083 {source="MONDO:equivalentTo"} xref: UMLS:C0795839 {source="MONDO:equivalentTo", source="Orphanet:262083"} is_a: MONDO:0016875 {source="Orphanet:262083"} ! partial deletion of chromosome 10 @@ -330601,7 +330442,7 @@ xref: GARD:0001735 {source="MONDO:equivalentTo"} xref: GTR:AN0100478 {source="UMLS:CN035778"} xref: GTR:AN0100479 {source="UMLS:CN035778"} xref: GTR:AN0100480 {source="UMLS:CN035778"} -xref: ICD10CM:Q93.5 {source="Orphanet:262092", source="ORDO:262092/attributed", source="ORDO:262092/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262092/attributed", source="Orphanet:262092/ntbt", source="Orphanet:262092"} xref: MESH:C538296 {source="MONDO:equivalentTo"} xref: NCIT:C37312 {source="MONDO:equivalentTo"} xref: Orphanet:262092 {source="MONDO:equivalentTo"} @@ -330631,7 +330472,7 @@ synonym: "partial deletion of the long arm of chromosome type 13" EXACT [MONDORU synonym: "partial monosomy of chromosome 13q" EXACT [Orphanet:262101] synonym: "partial monosomy of the long arm of chromosome 13" EXACT [Orphanet:262101] xref: GARD:0001738 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:262101/attributed", source="ORDO:262101/ntbt", source="Orphanet:262101"} +xref: ICD10CM:Q93.5 {source="Orphanet:262101", source="Orphanet:262101/attributed", source="Orphanet:262101/ntbt"} xref: MESH:C535449 {source="MONDO:equivalentTo"} xref: NCIT:C36497 {source="MONDO:equivalentTo"} xref: Orphanet:262101 {source="MONDO:equivalentTo"} @@ -330658,7 +330499,7 @@ synonym: "partial monosomy 14q" RELATED [GARD:0003722] synonym: "partial monosomy of chromosome 14q" EXACT [Orphanet:262110] synonym: "partial monosomy of the long arm of chromosome 14" EXACT [Orphanet:262110] xref: GARD:0003722 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:262110", source="ORDO:262110/attributed", source="ORDO:262110/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262110/attributed", source="Orphanet:262110/ntbt", source="Orphanet:262110"} xref: Orphanet:262110 {source="MONDO:equivalentTo"} xref: UMLS:C2931701 {source="GARD:0003722", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330681,7 +330522,7 @@ synonym: "partial monosomy 15q" RELATED [GARD:0001746] synonym: "partial monosomy of chromosome 15q" EXACT [Orphanet:262119] synonym: "partial monosomy of the long arm of chromosome 15" EXACT [Orphanet:262119] xref: GARD:0001746 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:262119", source="ORDO:262119/attributed", source="ORDO:262119/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262119/attributed", source="Orphanet:262119/ntbt", source="Orphanet:262119"} xref: MESH:C538038 {source="MONDO:equivalentTo"} xref: Orphanet:262119 {source="MONDO:equivalentTo"} xref: UMLS:C2931708 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001746"} @@ -330698,7 +330539,7 @@ synonym: "partial deletion of chromosome 16q" EXACT [Orphanet:262128] synonym: "partial deletion of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262128] synonym: "partial monosomy of chromosome 16q" EXACT [Orphanet:262128] synonym: "partial monosomy of the long arm of chromosome 16" EXACT [Orphanet:262128] -xref: ICD10CM:Q93.5 {source="ORDO:262128/attributed", source="ORDO:262128/ntbt", source="Orphanet:262128"} +xref: ICD10CM:Q93.5 {source="Orphanet:262128", source="Orphanet:262128/attributed", source="Orphanet:262128/ntbt"} xref: Orphanet:262128 {source="MONDO:equivalentTo"} is_a: MONDO:0016878 {source="Orphanet:262128"} ! partial deletion of chromosome 16 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330714,7 +330555,7 @@ synonym: "partial deletion of chromosome 17q" EXACT [Orphanet:262137] synonym: "partial deletion of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262137] synonym: "partial monosomy of chromosome 17q" EXACT [Orphanet:262137] synonym: "partial monosomy of the long arm of chromosome 17" EXACT [Orphanet:262137] -xref: ICD10CM:Q93.5 {source="ORDO:262137/attributed", source="ORDO:262137/ntbt", source="Orphanet:262137"} +xref: ICD10CM:Q93.5 {source="Orphanet:262137", source="Orphanet:262137/attributed", source="Orphanet:262137/ntbt"} xref: Orphanet:262137 {source="MONDO:equivalentTo"} is_a: MONDO:0016879 {source="Orphanet:262137"} ! partial deletion of chromosome 17 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330738,7 +330579,7 @@ synonym: "partial deletion of chromosome 19q" EXACT [Orphanet:262155] synonym: "partial deletion of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262155] synonym: "partial monosomy of chromosome 19q" EXACT [Orphanet:262155] synonym: "partial monosomy of the long arm of chromosome 19" EXACT [Orphanet:262155] -xref: ICD10CM:Q93.5 {source="Orphanet:262155", source="ORDO:262155/attributed", source="ORDO:262155/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262155/attributed", source="Orphanet:262155/ntbt", source="Orphanet:262155"} xref: Orphanet:262155 {source="MONDO:equivalentTo"} is_a: MONDO:0016881 {source="Orphanet:262155"} ! partial deletion of chromosome 19 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330754,7 +330595,7 @@ synonym: "partial deletion of chromosome 20q" EXACT [Orphanet:262164] synonym: "partial deletion of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262164] synonym: "partial monosomy of chromosome 20q" EXACT [Orphanet:262164] synonym: "partial monosomy of the long arm of chromosome 20" EXACT [Orphanet:262164] -xref: ICD10CM:Q93.5 {source="Orphanet:262164", source="ORDO:262164/attributed", source="ORDO:262164/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262164", source="Orphanet:262164/attributed", source="Orphanet:262164/ntbt"} xref: Orphanet:262164 {source="MONDO:equivalentTo"} is_a: MONDO:0016882 {source="Orphanet:262164"} ! partial deletion of chromosome 20 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -330770,7 +330611,7 @@ synonym: "partial deletion of chromosome 21q" EXACT [Orphanet:262173] synonym: "partial deletion of the long arm of chromosome type 21" EXACT [MONDORULE:2, Orphanet:262173] synonym: "partial monosomy of chromosome 21q" EXACT [Orphanet:262173] synonym: "partial monosomy of the long arm of chromosome 21" EXACT [Orphanet:262173] -xref: ICD10CM:Q93.5 {source="Orphanet:262173", source="ORDO:262173/attributed", source="ORDO:262173/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262173", source="Orphanet:262173/attributed", source="Orphanet:262173/ntbt"} xref: Orphanet:262173 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr21q ! 21q (Human) @@ -331693,15 +331534,15 @@ synonym: "limb girdle muscular dystrophy" EXACT [DOID:11724] synonym: "limb-girdle muscular dystrophy" EXACT CLINGEN_PREFERRED [] xref: DOID:11724 {source="MONDO:equivalentTo"} xref: GARD:0006907 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:263/ntbt", source="DOID:11724", source="Orphanet:263", source="ORDO:263/inclusion"} -xref: MESH:D049288 {source="DOID:11724", source="MONDO:equivalentTo", source="ORDO:263/e", source="Orphanet:263"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:11724", source="Orphanet:263/inclusion", source="Orphanet:263", source="Orphanet:263/ntbt"} +xref: MESH:D049288 {source="Orphanet:263/e", source="DOID:11724", source="MONDO:equivalentTo", source="Orphanet:263"} xref: NCIT:C84828 {source="DOID:11724", source="MONDO:equivalentTo"} xref: Orphanet:263 {source="DOID:11724", source="MONDO:equivalentTo"} xref: SCTID:56096001 {source="DOID:11724"} xref: SCTID:78468005 {source="MONDO:equivalentTo"} xref: SCTID:93153005 {source="DOID:11724"} xref: UMLS:C0270950 {source="MONDO:equivalentTo"} -xref: UMLS:C0686353 {source="DOID:11724", source="MONDO:equivalentTo", source="NCIT:C84828", source="ORDO:263/e", source="Orphanet:263"} +xref: UMLS:C0686353 {source="Orphanet:263/e", source="DOID:11724", source="MONDO:equivalentTo", source="NCIT:C84828", source="Orphanet:263"} is_a: MONDO:0016106 {source="Orphanet:263"} ! progressive muscular dystrophy is_a: MONDO:0020121 {source="DOID:11724", source="MESH:D049288", source="MONDO:Redundant", source="NCIT:C84828", source="Orphanet:263/inferred", source="linkedlifedata"} ! muscular dystrophy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy xsd:anyURI {source="GARD:0006907"} @@ -331741,8 +331582,8 @@ synonym: "primary thymic epithelial neoplasm type B" EXACT [Orphanet:263317] synonym: "primary thymic epithelial tumor type B" EXACT [Orphanet:263317] synonym: "thymoma type B" EXACT [NCIT:C7114] xref: DOID:3282 {source="MONDO:equivalentTo"} -xref: ICD10CM:C37 {source="ORDO:263317/ntbt", source="Orphanet:263317"} -xref: ICD10CM:D15.0 {source="ORDO:263317/ntbt", source="MONDO:relatedTo", source="Orphanet:263317"} +xref: ICD10CM:C37 {source="Orphanet:263317/ntbt", source="Orphanet:263317"} +xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263317/ntbt", source="Orphanet:263317"} xref: NCIT:C7114 {source="MONDO:equivalentTo", source="DOID:3282"} xref: Orphanet:263317 {source="MONDO:equivalentTo"} xref: UMLS:C1328042 {source="NCIT:C7114", source="MONDO:equivalentTo", source="DOID:3282"} @@ -331764,20 +331605,20 @@ synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885] synonym: "thymoma, mixed type" EXACT [DOID:3280] xref: DOID:3280 {source="MONDO:equivalentTo"} xref: EFO:1000582 {source="MONDO:equivalentTo"} -xref: ICD10CM:C37 {source="ORDO:263324/ntbt", source="Orphanet:263324"} -xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="ORDO:263324/ntbt", source="Orphanet:263324"} +xref: ICD10CM:C37 {source="Orphanet:263324", source="Orphanet:263324/ntbt"} +xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263324", source="Orphanet:263324/ntbt"} xref: ICDO:8582/1 {source="NCIT:C6885"} xref: NCIT:C6885 {source="EFO:1000582", source="MONDO:equivalentTo", source="DOID:3280"} xref: Orphanet:263324 {source="MONDO:equivalentTo"} xref: SCTID:128709000 {source="DOID:3280"} -xref: UMLS:C1266092 {source="MONDO:equivalentTo", source="NCIT:C6885", source="ORDO:263324/e", source="Orphanet:263324", source="DOID:3280"} +xref: UMLS:C1266092 {source="MONDO:equivalentTo", source="NCIT:C6885", source="Orphanet:263324", source="DOID:3280", source="Orphanet:263324/e"} is_a: MONDO:0006456 {source="DOID:3280", source="EFO:1000582", source="NCIT:C6885", source="Orphanet:263324"} ! thymoma [Term] id: MONDO:0016976 name: well-differentiated thymic neuroendocrine carcinoma subset: ordo_histopathological_subtype {source="Orphanet:263331"} -xref: ICD10CM:C37 {source="Orphanet:263331", source="ORDO:263331/ntbt"} +xref: ICD10CM:C37 {source="Orphanet:263331/ntbt", source="Orphanet:263331"} xref: Orphanet:263331 {source="MONDO:equivalentTo"} xref: SCTID:717922007 {source="MONDO:equivalentTo"} xref: UMLS:CN202278 {source="MONDO:equivalentTo"} @@ -331787,7 +331628,7 @@ is_a: MONDO:0020516 {source="Orphanet:263331", source="linkedlifedata"} ! thymic id: MONDO:0016977 name: moderately-differentiated thymic neuroendocrine carcinoma subset: ordo_histopathological_subtype {source="Orphanet:263335"} -xref: ICD10CM:C37 {source="ORDO:263335/ntbt", source="Orphanet:263335"} +xref: ICD10CM:C37 {source="Orphanet:263335", source="Orphanet:263335/ntbt"} xref: Orphanet:263335 {source="MONDO:equivalentTo"} xref: UMLS:CN202279 {source="MONDO:equivalentTo"} is_a: MONDO:0020516 {source="Orphanet:263335"} ! thymic neuroendocrine carcinoma @@ -331796,7 +331637,7 @@ is_a: MONDO:0020516 {source="Orphanet:263335"} ! thymic neuroendocrine carcinoma id: MONDO:0016978 name: poorly differentiated thymic neuroendocrine carcinoma subset: ordo_histopathological_subtype {source="Orphanet:263339"} -xref: ICD10CM:C37 {source="ORDO:263339/ntbt", source="Orphanet:263339"} +xref: ICD10CM:C37 {source="Orphanet:263339/ntbt", source="Orphanet:263339"} xref: Orphanet:263339 {source="MONDO:equivalentTo"} xref: SCTID:717921000 {source="MONDO:equivalentTo"} xref: UMLS:CN202280 {source="MONDO:equivalentTo"} @@ -331808,7 +331649,7 @@ name: MRCS syndrome def: "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." [Orphanet:263347] subset: ordo_disease {source="Orphanet:263347"} synonym: "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" EXACT [Orphanet:263347] -xref: OMIM:193220 {source="MONDO:subClassOf", source="ORDO:263347/ntbt", source="Orphanet:263347"} +xref: OMIM:193220 {source="MONDO:subClassOf", source="Orphanet:263347", source="Orphanet:263347/ntbt"} xref: Orphanet:263347 {source="MONDO:equivalentTo"} xref: UMLS:C2674009 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:263347"} is_a: MONDO:0019118 {source="Orphanet:263347"} ! inherited retinal dystrophy @@ -331856,10 +331697,10 @@ xref: DOID:0001816 {source="MONDO:equivalentTo", source="EFO:0003968"} xref: EFO:0003967 {source="MONDO:equivalentTo"} xref: EFO:0003968 {source="MONDO:equivalentTo"} xref: HP:0200058 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C49.9 {source="ORDO:263413/ntbt", source="Orphanet:263413"} +xref: ICD10CM:C49.9 {source="Orphanet:263413", source="Orphanet:263413/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9120/3 {source="NCIT:C3088"} -xref: MedDRA:10002476 {source="Orphanet:263413", source="ORDO:263413/e"} +xref: MedDRA:10002476 {source="Orphanet:263413", source="Orphanet:263413/e"} xref: MESH:D006394 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"} xref: NCIT:C3088 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"} xref: ONCOTREE:ANGS {source="MONDO:equivalentTo"} @@ -331885,8 +331726,8 @@ def: "Bartter syndrome with hypocalcemia is a type of Bartter syndrome character subset: ordo_clinical_subtype {source="Orphanet:263417"} synonym: "Bartter syndrome type 5" EXACT [Orphanet:263417] synonym: "Bartter syndrome type V" EXACT [Orphanet:263417] -xref: ICD10CM:E26.8 {source="Orphanet:263417", source="ORDO:263417/attributed", source="ORDO:263417/ntbt"} -xref: OMIM:601198 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:263417", source="ORDO:263417/ntbt"} +xref: ICD10CM:E26.8 {source="Orphanet:263417/attributed", source="Orphanet:263417/ntbt", source="Orphanet:263417"} +xref: OMIM:601198 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:263417/ntbt", source="Orphanet:263417"} xref: Orphanet:263417 {source="MONDO:equivalentTo"} xref: UMLS:C3715128 {source="MONDO:equivalentTo"} is_a: MONDO:0015231 {source="Orphanet:263417"} ! Bartter syndrome @@ -331902,14 +331743,14 @@ synonym: "oculocutaneous melanocytic Nevus" EXACT [NCIT:C7583] synonym: "oculodermal melanocytosis" EXACT [NCIT:C7583] synonym: "Ota's Nevus" EXACT [NCIT:C7583] xref: EFO:1000396 {source="MONDO:equivalentTo"} -xref: ICD10CM:D22.3 {source="ORDO:263425/ntbt", source="Orphanet:263425"} +xref: ICD10CM:D22.3 {source="Orphanet:263425/ntbt", source="Orphanet:263425"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051713 {source="ORDO:263425/e", source="Orphanet:263425"} +xref: MedDRA:10051713 {source="Orphanet:263425/e", source="Orphanet:263425"} xref: MESH:D009507 {source="MONDO:equivalentTo"} xref: NCIT:C7583 {source="EFO:1000396", source="MONDO:equivalentTo"} xref: Orphanet:263425 {source="MONDO:equivalentTo"} xref: SCTID:414929001 {source="MONDO:equivalentTo"} -xref: UMLS:C0027961 {source="NCIT:C7583", source="MONDO:equivalentTo", source="ORDO:263425/e", source="Orphanet:263425"} +xref: UMLS:C0027961 {source="NCIT:C7583", source="Orphanet:263425/e", source="MONDO:equivalentTo", source="Orphanet:263425"} is_a: MONDO:0005073 {source="Orphanet:263425"} ! melanocytic nevus relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare @@ -331924,10 +331765,10 @@ synonym: "nevi of Ito" EXACT [GARD:0010830] synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432] xref: EFO:1000395 {source="MONDO:equivalentTo"} xref: GARD:0010830 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D22.6 {source="ORDO:263432/ntbt", source="Orphanet:263432"} +xref: ICD10CM:D22.6 {source="Orphanet:263432", source="Orphanet:263432/ntbt"} xref: NCIT:C7582 {source="EFO:1000395", source="MONDO:equivalentTo"} xref: Orphanet:263432 {source="MONDO:equivalentTo"} -xref: UMLS:C0022283 {source="NCIT:C7582", source="ORDO:263432/e", source="MONDO:equivalentTo", source="Orphanet:263432"} +xref: UMLS:C0022283 {source="NCIT:C7582", source="MONDO:equivalentTo", source="Orphanet:263432", source="Orphanet:263432/e"} xref: UMLS:CN202288 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:263432"} ! melanocytic nevus relationship: disease_shares_features_of MONDO:0016984 ! nevus of Ota @@ -331941,7 +331782,7 @@ subset: ordo_disease {source="Orphanet:263435"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:263435 {source="MONDO:equivalentTo"} xref: SCTID:239144007 {source="MONDO:equivalentTo"} -xref: UMLS:C0406819 {source="MONDO:equivalentTo", source="Orphanet:263435", source="ORDO:263435/e"} +xref: UMLS:C0406819 {source="MONDO:equivalentTo", source="Orphanet:263435", source="Orphanet:263435/e"} is_a: MONDO:0006499 ! hamartoma relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:263435"} ! obsolete rare skin tumor or hamartoma relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -331971,7 +331812,7 @@ name: hyperinsulinism due to HNF4A deficiency def: "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." [Orphanet:263455] subset: ordo_disease {source="Orphanet:263455"} synonym: "hyperinsulinemic hypoglycemia due to HNF4A deficiency" EXACT [Orphanet:263455] -xref: ICD10CM:E16.1 {source="ORDO:263455/attributed", source="ORDO:263455/ntbt", source="Orphanet:263455"} +xref: ICD10CM:E16.1 {source="Orphanet:263455", source="Orphanet:263455/attributed", source="Orphanet:263455/ntbt"} xref: Orphanet:263455 {source="MONDO:equivalentTo"} xref: SCTID:717048002 {source="MONDO:equivalentTo"} xref: UMLS:C4274078 {source="MONDO:equivalentTo"} @@ -331986,10 +331827,10 @@ synonym: "FHI" EXACT ABBREVIATION [Orphanet:263479] synonym: "Fuchs heterochromic cyclitis" RELATED [GARD:0006791] synonym: "Fuchs heterochromic uveitis" RELATED [GARD:0006791] xref: GARD:0006791 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H20.8 {source="ORDO:263479/ntbt", source="Orphanet:263479"} -xref: MedDRA:10017406 {source="Orphanet:263479", source="ORDO:263479/e"} +xref: ICD10CM:H20.8 {source="Orphanet:263479", source="Orphanet:263479/ntbt"} +xref: MedDRA:10017406 {source="Orphanet:263479", source="Orphanet:263479/e"} xref: Orphanet:263479 {source="MONDO:equivalentTo"} -xref: UMLS:C0016782 {source="MONDO:relatedTo", source="Orphanet:263479", source="ORDO:263479/e"} +xref: UMLS:C0016782 {source="MONDO:relatedTo", source="Orphanet:263479", source="Orphanet:263479/e"} is_a: MONDO:0017634 {source="Orphanet:263479"} ! non-infectious anterior uveitis [Term] @@ -332002,7 +331843,7 @@ synonym: "acquired hypoprothrombinemia" EXACT [Orphanet:26348] synonym: "acquired prothrombin deficiency" EXACT [MONDO:patterns/acquired] synonym: "hypoprothrombinemia, acquired" RELATED [GARD:0000475] xref: GARD:0000475 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D68.4 {source="ORDO:26348/ntbt", source="Orphanet:26348"} +xref: ICD10CM:D68.4 {source="Orphanet:26348/ntbt", source="Orphanet:26348"} xref: MESH:C538174 {source="MONDO:equivalentTo"} xref: NCIT:C131622 {source="MONDO:equivalentTo"} xref: Orphanet:26348 {source="MONDO:equivalentTo"} @@ -332021,8 +331862,8 @@ subset: ordo_disease {source="Orphanet:263524"} synonym: "ANEC" EXACT ABBREVIATION [Orphanet:263524] synonym: "isolated acute necrotizing encephalopathy" EXACT [Orphanet:263524] synonym: "isolated ANE" EXACT [Orphanet:263524] -xref: ICD10CM:G31.8 {source="ORDO:263524/ntbt", source="Orphanet:263524"} -xref: OMIM:614212 {source="ORDO:263524/btnt", source="MONDO:superClassOf", source="Orphanet:263524"} +xref: ICD10CM:G31.8 {source="Orphanet:263524/ntbt", source="Orphanet:263524"} +xref: OMIM:614212 {source="MONDO:superClassOf", source="Orphanet:263524/btnt", source="Orphanet:263524"} xref: Orphanet:263524 {source="MONDO:equivalentTo"} xref: SCTID:763310000 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 {source="Orphanet:263524"} ! infectious encephalitis @@ -332041,7 +331882,7 @@ name: generalized peeling skin syndrome type C subset: ordo_clinical_subtype {source="Orphanet:263558"} synonym: "generalized deciduous skin type C" EXACT [Orphanet:263558] synonym: "peeling skin syndrome type C" RELATED [Orphanet:263558] -xref: ICD10CM:Q80.8 {source="ORDO:263558/attributed", source="ORDO:263558/ntbt", source="Orphanet:263558"} +xref: ICD10CM:Q80.8 {source="Orphanet:263558", source="Orphanet:263558/attributed", source="Orphanet:263558/ntbt"} xref: Orphanet:263558 {source="MONDO:equivalentTo"} xref: UMLS:CN202307 {source="MONDO:equivalentTo"} is_a: MONDO:0010033 {source="Orphanet:263558"} ! generalized peeling skin syndrome @@ -332064,9 +331905,9 @@ synonym: "osteodysplastic primordial dwarfism type I" RELATED [GARD:0005120] synonym: "primordial microcephalic dwarfism, Crachami type" EXACT [GARD:0005120, Orphanet:2636] synonym: "Taybi-Linder syndrome" EXACT [Orphanet:2636] xref: GARD:0005120 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.1 {source="ORDO:2636/attributed", source="ORDO:2636/ntbt", source="Orphanet:2636"} -xref: OMIM:210710 {source="ORDO:2636/btnt", source="MONDO:superClassOf", source="Orphanet:2636", source="GARD:0005120"} -xref: OMIM:210730 {source="ORDO:2636/btnt", source="MONDO:superClassOf", source="Orphanet:2636"} +xref: ICD10CM:Q87.1 {source="Orphanet:2636", source="Orphanet:2636/attributed", source="Orphanet:2636/ntbt"} +xref: OMIM:210710 {source="MONDO:superClassOf", source="Orphanet:2636", source="GARD:0005120", source="Orphanet:2636/btnt"} +xref: OMIM:210730 {source="MONDO:superClassOf", source="Orphanet:2636", source="Orphanet:2636/btnt"} xref: Orphanet:2636 {source="MONDO:equivalentTo", source="GARD:0005120"} xref: SCTID:725461009 {source="MONDO:equivalentTo"} xref: UMLS:C1859452 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005120"} @@ -332079,8 +331920,8 @@ id: MONDO:0016995 name: familial multiple meningioma def: "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." [Orphanet:263662] subset: ordo_disease {source="Orphanet:263662"} -xref: ICD10CM:D32.9 {source="Orphanet:263662", source="ORDO:263662/ntbt"} -xref: OMIM:607174 {source="Orphanet:263662", source="ORDO:263662/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:D32.9 {source="Orphanet:263662/ntbt", source="Orphanet:263662"} +xref: OMIM:607174 {source="Orphanet:263662/btnt", source="Orphanet:263662", source="MONDO:superClassOf"} xref: Orphanet:263662 {source="MONDO:equivalentTo"} xref: UMLS:CN202309 {source="MONDO:equivalentTo"} is_a: MONDO:0016743 {source="Orphanet:263662"} ! tumor of meninges @@ -332091,7 +331932,7 @@ name: NK-cell enteropathy def: "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." [Orphanet:263665] comment: Editor note: TODO - complete axioms subset: ordo_disease {source="Orphanet:263665"} -xref: ICD10CM:K63.8 {source="ORDO:263665/ntbt", source="Orphanet:263665"} +xref: ICD10CM:K63.8 {source="Orphanet:263665", source="Orphanet:263665/ntbt"} xref: Orphanet:263665 {source="MONDO:equivalentTo"} xref: SCTID:723496007 {source="MONDO:equivalentTo"} xref: UMLS:C4509932 {source="MONDO:equivalentTo"} @@ -332166,7 +332007,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:261811", source="Orphanet:263726"} synonym: "partial deletion of chromosome type X" EXACT [MONDORULE:1, Orphanet:263726] synonym: "partial monosomy of chromosome X" EXACT [Orphanet:263726] -xref: ICD10CM:Q99.8 {source="ORDO:263726/attributed", source="ORDO:263726/ntbt", source="Orphanet:263726"} +xref: ICD10CM:Q99.8 {source="Orphanet:263726/attributed", source="Orphanet:263726/ntbt", source="Orphanet:263726"} xref: Orphanet:263726 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human) @@ -332181,7 +332022,7 @@ synonym: "partial deletion of chromosome Xp" EXACT [Orphanet:263731] synonym: "partial deletion of the short arm of chromosome X" EXACT [Orphanet:263731] synonym: "partial monosomy of chromosome Xp" EXACT [Orphanet:263731] synonym: "partial monosomy of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263731] -xref: ICD10CM:Q99.8 {source="ORDO:263731/attributed", source="ORDO:263731/ntbt", source="Orphanet:263731"} +xref: ICD10CM:Q99.8 {source="Orphanet:263731", source="Orphanet:263731/attributed", source="Orphanet:263731/ntbt"} xref: Orphanet:263731 {source="MONDO:equivalentTo"} is_a: MONDO:0017003 {source="Orphanet:263731"} ! partial deletion of chromosome X intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -332206,7 +332047,7 @@ name: obsolete X and Y chromosomal anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263749"} -xref: ICD10CM:Q98.8 {source="ORDO:263749/attributed", source="ORDO:263749/ntbt", source="Orphanet:263749"} +xref: ICD10CM:Q98.8 {source="Orphanet:263749/attributed", source="Orphanet:263749/ntbt", source="Orphanet:263749"} xref: Orphanet:263749 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 property_value: IAO:0000231 "out of scope" xsd:string @@ -332221,7 +332062,7 @@ synonym: "partial deletion of chromosome Xq" EXACT [Orphanet:263756] synonym: "partial deletion of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263756] synonym: "partial monosomy of chromosome Xq" EXACT [Orphanet:263756] synonym: "partial monosomy of the long arm of chromosome X" EXACT [Orphanet:263756] -xref: ICD10CM:Q99.8 {source="ORDO:263756/attributed", source="ORDO:263756/ntbt", source="Orphanet:263756"} +xref: ICD10CM:Q99.8 {source="Orphanet:263756", source="Orphanet:263756/attributed", source="Orphanet:263756/ntbt"} xref: Orphanet:263756 {source="MONDO:equivalentTo"} is_a: MONDO:0017003 {source="Orphanet:263756"} ! partial deletion of chromosome X intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -332235,7 +332076,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263768", source="Orphanet:262648"} synonym: "partial duplication of chromosome type X" EXACT [MONDORULE:1, Orphanet:263768] synonym: "partial trisomy of chromosome X" EXACT [Orphanet:263768] -xref: ICD10CM:Q99.8 {source="ORDO:263768/attributed", source="ORDO:263768/ntbt", source="Orphanet:263768"} +xref: ICD10CM:Q99.8 {source="Orphanet:263768/attributed", source="Orphanet:263768/ntbt", source="Orphanet:263768"} xref: Orphanet:263768 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human) @@ -332251,7 +332092,7 @@ synonym: "partial duplication of the short arm of chromosome type X" EXACT [MOND synonym: "partial trisomy of chromosome Xp" EXACT [GARD:0012421, Orphanet:263775] synonym: "partial trisomy of the short arm of chromosome X" EXACT [Orphanet:263775] xref: GARD:0012421 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q99.8 {source="ORDO:263775/attributed", source="ORDO:263775/ntbt", source="Orphanet:263775"} +xref: ICD10CM:Q99.8 {source="Orphanet:263775", source="Orphanet:263775/attributed", source="Orphanet:263775/ntbt"} xref: Orphanet:263775 {source="MONDO:equivalentTo"} is_a: MONDO:0017008 {source="Orphanet:263775"} ! partial duplication of chromosome X intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication @@ -332276,7 +332117,7 @@ synonym: "trisomy Xq" RELATED [GARD:0005369] synonym: "Xq duplication" RELATED [GARD:0005369] synonym: "Xq trisomy" RELATED [GARD:0005369] xref: GARD:0005369 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="Orphanet:263783", source="ORDO:263783/attributed", source="ORDO:263783/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:263783/attributed", source="Orphanet:263783/ntbt", source="Orphanet:263783"} xref: MESH:C536732 {source="MONDO:equivalentTo"} xref: Orphanet:263783 {source="MONDO:equivalentTo"} xref: UMLS:C0795891 {source="MONDO:equivalentTo"} @@ -332293,7 +332134,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263793"} synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:263793] synonym: "UPD(X)" EXACT [Orphanet:263793] -xref: ICD10CM:Q99.8 {source="Orphanet:263793", source="ORDO:263793/attributed", source="ORDO:263793/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:263793/attributed", source="Orphanet:263793/ntbt", source="Orphanet:263793"} xref: Orphanet:263793 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 property_value: IAO:0000231 "out of scope" xsd:string @@ -332320,7 +332161,7 @@ def: "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the part subset: ordo_malformation_syndrome {source="Orphanet:264450"} synonym: "Duplication 8p" EXACT [Orphanet:264450] synonym: "trisomy type 8p" EXACT [MONDORULE:4, Orphanet:264450] -xref: ICD10CM:Q92.2 {source="Orphanet:264450", source="ORDO:264450/attributed", source="ORDO:264450/ntbt"} +xref: ICD10CM:Q92.2 {source="Orphanet:264450", source="Orphanet:264450/attributed", source="Orphanet:264450/ntbt"} xref: MESH:C538019 {source="MONDO:equivalentTo"} xref: Orphanet:264450 {source="MONDO:equivalentTo"} is_a: MONDO:0016945 {source="Orphanet:264450"} ! partial duplication of the short arm of chromosome 8 @@ -332650,11 +332491,11 @@ consider: MONDO:0015925 id: MONDO:0017039 name: drug or radiation exposure-related interstitial lung disease subset: ordo_clinical_situation {source="Orphanet:264978"} -xref: ICD10CM:J70.0 {source="ORDO:264978/btnt", source="Orphanet:264978"} -xref: ICD10CM:J70.1 {source="ORDO:264978/btnt", source="Orphanet:264978"} -xref: ICD10CM:J70.2 {source="ORDO:264978/btnt", source="Orphanet:264978"} -xref: ICD10CM:J70.3 {source="ORDO:264978/btnt", source="Orphanet:264978"} -xref: ICD10CM:J70.4 {source="ORDO:264978/btnt", source="Orphanet:264978"} +xref: ICD10CM:J70.0 {source="Orphanet:264978/btnt", source="Orphanet:264978"} +xref: ICD10CM:J70.1 {source="Orphanet:264978/btnt", source="Orphanet:264978"} +xref: ICD10CM:J70.2 {source="Orphanet:264978/btnt", source="Orphanet:264978"} +xref: ICD10CM:J70.3 {source="Orphanet:264978/btnt", source="Orphanet:264978"} +xref: ICD10CM:J70.4 {source="Orphanet:264978/btnt", source="Orphanet:264978"} xref: Orphanet:264978 {source="MONDO:equivalentTo"} xref: UMLS:CN202350 {source="MONDO:equivalentTo"} is_a: MONDO:0017040 {source="Orphanet:264978"} ! exposure-related interstitial lung disease @@ -332691,21 +332532,21 @@ synonym: "Td" EXACT [Orphanet:2655] synonym: "thanatophoric dwarfism" EXACT [Orphanet:2655] xref: DOID:13481 {source="MONDO:equivalentTo"} xref: GARD:0000085 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.1 {source="ORDO:2655/specific", source="ORDO:2655/e", source="DOID:13481", source="Orphanet:2655"} +xref: ICD10CM:Q77.1 {source="DOID:13481", source="Orphanet:2655", source="Orphanet:2655/specific", source="Orphanet:2655/e"} xref: ICD9:259.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049808 {source="ORDO:2655/e", source="Orphanet:2655"} +xref: MedDRA:10049808 {source="Orphanet:2655", source="Orphanet:2655/e"} xref: MESH:D013796 {source="MONDO:equivalentTo", source="DOID:13481"} xref: NCIT:C85187 {source="MONDO:equivalentTo", source="DOID:13481"} -xref: OMIM:156830 {source="MONDO:superClassOf", source="ORDO:2655/btnt", source="Orphanet:2655"} -xref: OMIM:187600 {source="DOID:13481", source="MONDO:superClassOf", source="ORDO:2655/btnt", source="Orphanet:2655", source="GARD:0000085"} -xref: OMIM:187601 {source="DOID:13481", source="MONDO:superClassOf", source="ORDO:2655/btnt", source="Orphanet:2655"} +xref: OMIM:156830 {source="MONDO:superClassOf", source="Orphanet:2655", source="Orphanet:2655/btnt"} +xref: OMIM:187600 {source="DOID:13481", source="MONDO:superClassOf", source="Orphanet:2655", source="Orphanet:2655/btnt", source="GARD:0000085"} +xref: OMIM:187601 {source="DOID:13481", source="MONDO:superClassOf", source="Orphanet:2655", source="Orphanet:2655/btnt"} xref: OMIM:273680 {source="DOID:13481", source="MONDO:superClassOf"} xref: Orphanet:1860 {source="DOID:13481", source="MONDO:superClassOf"} xref: Orphanet:2655 {source="MONDO:equivalentTo", source="DOID:13481", source="GARD:0000085"} xref: Orphanet:93274 {source="DOID:13481", source="MONDO:superClassOf"} xref: Orphanet:93275 {source="DOID:13481", source="MONDO:superClassOf"} xref: SCTID:29352008 {source="MONDO:equivalentTo", source="DOID:13481"} -xref: UMLS:C0039743 {source="ORDO:2655/e", source="MONDO:equivalentTo", source="DOID:13481", source="Orphanet:2655", source="NCIT:C85187"} +xref: UMLS:C0039743 {source="MONDO:equivalentTo", source="DOID:13481", source="Orphanet:2655", source="NCIT:C85187", source="Orphanet:2655/e"} is_a: MONDO:0005516 {source="DOID:13481", source="MESH:D013796/inferred", source="linkedlifedata"} ! osteochondrodysplasia is_a: MONDO:0019685 {source="Orphanet:2655"} ! FGFR3-related chondrodysplasia relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:2655"} ! obsolete primary bone dysplasia with micromelia @@ -332722,14 +332563,14 @@ synonym: "mesoblastic nephroma" EXACT [NCIT:C6569] synonym: "stromal nephroma, malignant" EXACT [NCIT:C6569] xref: DOID:4773 {source="MONDO:equivalentTo"} xref: GARD:0001493 {source="MONDO:equivalentTo"} -xref: ICD10CM:D41.0 {source="Orphanet:2665", source="ORDO:2665/ntbt"} +xref: ICD10CM:D41.0 {source="Orphanet:2665/ntbt", source="Orphanet:2665"} xref: ICDO:8960/1 {source="NCIT:C6569"} -xref: MedDRA:10070665 {source="Orphanet:2665", source="ORDO:2665/e"} -xref: MESH:D018201 {source="MONDO:subClassOf", source="DOID:4773", source="Orphanet:2665", source="ORDO:2665/e"} +xref: MedDRA:10070665 {source="Orphanet:2665", source="Orphanet:2665/e"} +xref: MESH:D018201 {source="MONDO:subClassOf", source="DOID:4773", source="Orphanet:2665", source="Orphanet:2665/e"} xref: NCIT:C6569 {source="DOID:4773", source="MONDO:equivalentTo"} xref: Orphanet:2665 {source="MONDO:equivalentTo"} xref: SCTID:307604008 {source="MONDO:subClassOf", source="GARD:0001493"} -xref: UMLS:C1332965 {source="DOID:4773", source="Orphanet:2665", source="ORDO:2665/e", source="MONDO:equivalentTo", source="NCIT:C6569"} +xref: UMLS:C1332965 {source="DOID:4773", source="Orphanet:2665", source="MONDO:equivalentTo", source="Orphanet:2665/e", source="NCIT:C6569"} is_a: MONDO:0002730 {source="DOID:4773", source="NCIT:C6569/inferred"} ! childhood kidney neoplasm is_a: MONDO:0003130 {source="DOID:4773"} ! mesoblastic nephroma is_a: MONDO:0005564 {source="NCIT:C6569"} ! embryonal neoplasm @@ -332757,7 +332598,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2676"} synonym: "neuroectodermal endocrine syndrome" RELATED [GARD:0003959] synonym: "Oerter-Friedman-Anderson syndrome" EXACT [Orphanet:2676] xref: GARD:0003959 {source="MONDO:equivalentTo"} -xref: ICD10CM:E31.8 {source="Orphanet:2676", source="ORDO:2676/attributed", source="ORDO:2676/ntbt"} +xref: ICD10CM:E31.8 {source="Orphanet:2676/attributed", source="Orphanet:2676/ntbt", source="Orphanet:2676"} xref: Orphanet:2676 {source="MONDO:equivalentTo"} xref: SCTID:724090001 {source="MONDO:equivalentTo"} xref: UMLS:CN202391 {source="MONDO:equivalentTo"} @@ -332776,11 +332617,11 @@ comment: Editor note: see also MONDO:0005462 and MONDO:0021193 subset: gard_rare {source="GARD:0003963"} subset: ordo_disease {source="Orphanet:2677"} xref: GARD:0003963 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="ORDO:2677/ntbt", source="Orphanet:2677"} -xref: MESH:D018241 {source="ORDO:2677/e", source="Orphanet:2677"} -xref: OMIM:612219 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:2677/ntbt", source="Orphanet:2677"} +xref: ICD10CM:C71.9 {source="Orphanet:2677", source="Orphanet:2677/ntbt"} +xref: MESH:D018241 {source="Orphanet:2677", source="Orphanet:2677/e"} +xref: OMIM:612219 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:2677", source="Orphanet:2677/ntbt"} xref: Orphanet:2677 {source="MONDO:equivalentTo"} -xref: UMLS:C0027828 {source="ORDO:2677/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2677"} +xref: UMLS:C0027828 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2677", source="Orphanet:2677/e"} is_a: MONDO:0016708 {source="Orphanet:2677"} ! embryonal tumor of neuroepithelial tissue property_value: confidence "0.012345679012345512" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma xsd:anyURI {source="GARD:0003963"} @@ -332791,7 +332632,7 @@ name: infantile axonal neuropathy subset: gard_rare {source="GARD:0002996"} subset: ordo_disease {source="Orphanet:2679"} xref: GARD:0002996 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.8 {source="ORDO:2679/attributed", source="ORDO:2679/ntbt", source="Orphanet:2679"} +xref: ICD10CM:G60.8 {source="Orphanet:2679", source="Orphanet:2679/attributed", source="Orphanet:2679/ntbt"} xref: Orphanet:2679 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020127 {source="Orphanet:2679"} ! genetic peripheral neuropathy relationship: has_modifier HP:0003593 ! Infantile onset @@ -332817,15 +332658,15 @@ xref: DOID:3559 {source="MONDO:equivalentTo"} xref: EFO:0007456 {source="MONDO:equivalentTo"} xref: GARD:0002448 {source="MONDO:equivalentTo"} xref: GARD:0007488 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C78.6 {source="Orphanet:26790", source="DOID:3559", source="ORDO:26790/ntbt"} +xref: ICD10CM:C78.6 {source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/ntbt"} xref: ICDO:8480/6 {source="NCIT:C3345"} -xref: MedDRA:10037138 {source="ORDO:26790/e", source="Orphanet:26790"} -xref: MESH:D011553 {source="ORDO:26790/e", source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559"} +xref: MedDRA:10037138 {source="Orphanet:26790", source="Orphanet:26790/e"} +xref: MESH:D011553 {source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/e"} xref: NCIT:C3345 {source="MONDO:equivalentTo", source="DOID:3559", source="exact-label-match"} xref: Orphanet:26790 {source="MONDO:equivalentTo"} xref: SCTID:112679004 {source="DOID:3559"} xref: SCTID:307601000 {source="MONDO:equivalentTo", source="DOID:3559"} -xref: UMLS:C0033822 {source="ORDO:26790/e", source="GARD:0002448", source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="NCIT:C3345"} +xref: UMLS:C0033822 {source="GARD:0002448", source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="NCIT:C3345", source="Orphanet:26790/e"} is_a: MONDO:0001235 {source="DOID:3559", source="MONDO:Redundant"} ! appendix cancer is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C3345"} ! mucinous adenocarcinoma is_a: MONDO:0015682 {source="Orphanet:26790"} ! primary peritoneal tumor @@ -332836,8 +332677,8 @@ name: hypomyelination neuropathy-arthrogryposis syndrome def: "Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." [Orphanet:2680] subset: ordo_malformation_syndrome {source="Orphanet:2680"} synonym: "Boylan-dew syndrome" EXACT [Orphanet:2680] -xref: OMIM:616286 {source="MONDO:superClassOf", source="ORDO:2680/btnt", source="Orphanet:2680"} -xref: OMIM:616287 {source="MONDO:superClassOf", source="ORDO:2680/btnt", source="Orphanet:2680"} +xref: OMIM:616286 {source="Orphanet:2680/btnt", source="MONDO:superClassOf", source="Orphanet:2680"} +xref: OMIM:616287 {source="Orphanet:2680/btnt", source="MONDO:superClassOf", source="Orphanet:2680"} xref: Orphanet:2680 {source="MONDO:equivalentTo"} xref: UMLS:CN202399 {source="MONDO:equivalentTo"} is_a: MONDO:0015168 {source="Orphanet:2680"} ! arthrogryposis multiplex congenita @@ -332868,10 +332709,10 @@ synonym: "classic branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT synonym: "classic branched-chain ketoaciduria" EXACT [Orphanet:268145] synonym: "classic maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "classic MSUD" EXACT [Orphanet:268145] -xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="Orphanet:268145", source="ORDO:268145/attributed", source="ORDO:268145/ntbt"} -xref: OMIM:248600 {source="MONDO:subClassOf", source="Orphanet:268145", source="ORDO:268145/ntbt"} +xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="Orphanet:268145", source="Orphanet:268145/attributed", source="Orphanet:268145/ntbt"} +xref: OMIM:248600 {source="MONDO:subClassOf", source="Orphanet:268145", source="Orphanet:268145/ntbt"} xref: Orphanet:268145 {source="MONDO:equivalentTo"} -xref: UMLS:C0268568 {source="Orphanet:268145", source="MONDO:notFoundInDiseaseSubset", source="ORDO:268145/e"} +xref: UMLS:C0268568 {source="Orphanet:268145", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268145/e"} is_a: MONDO:0009563 {source="Orphanet:268145"} ! maple syrup urine disease property_value: confidence "0.6200294550810015" xsd:double @@ -332885,12 +332726,12 @@ synonym: "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency" EXACT synonym: "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162] synonym: "intermediate maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "Intermediate MSUD" EXACT [Orphanet:268162] -xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="ORDO:268162/attributed", source="ORDO:268162/ntbt", source="Orphanet:268162"} -xref: OMIM:248600 {source="MONDO:subClassOf", source="ORDO:268162/ntbt", source="Orphanet:268162"} -xref: OMIM:615135 {source="ORDO:268162/btnt", source="MONDO:superClassOf", source="Orphanet:268162"} +xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="Orphanet:268162", source="Orphanet:268162/attributed", source="Orphanet:268162/ntbt"} +xref: OMIM:248600 {source="MONDO:subClassOf", source="Orphanet:268162", source="Orphanet:268162/ntbt"} +xref: OMIM:615135 {source="MONDO:superClassOf", source="Orphanet:268162", source="Orphanet:268162/btnt"} xref: Orphanet:268162 {source="MONDO:equivalentTo"} xref: SCTID:405287008 {source="MONDO:equivalentTo"} -xref: UMLS:C1621920 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268162", source="ORDO:268162/e"} +xref: UMLS:C1621920 {source="Orphanet:268162/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268162"} is_a: MONDO:0009563 {source="Orphanet:268162", source="linkedlifedata"} ! maple syrup urine disease property_value: confidence "0.6200294550810015" xsd:double @@ -332904,11 +332745,11 @@ synonym: "intermittent branched-chain 2-ketoacid dehydrogenase deficiency" EXACT synonym: "intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173] synonym: "intermittent maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "intermittent MSUD" EXACT [Orphanet:268173] -xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="ORDO:268173/attributed", source="ORDO:268173/ntbt", source="Orphanet:268173"} -xref: OMIM:248600 {source="MONDO:subClassOf", source="ORDO:268173/ntbt", source="Orphanet:268173"} +xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="Orphanet:268173", source="Orphanet:268173/attributed", source="Orphanet:268173/ntbt"} +xref: OMIM:248600 {source="MONDO:subClassOf", source="Orphanet:268173", source="Orphanet:268173/ntbt"} xref: Orphanet:268173 {source="MONDO:equivalentTo"} xref: SCTID:405288003 {source="MONDO:equivalentTo"} -xref: UMLS:C0268569 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268173", source="ORDO:268173/e"} +xref: UMLS:C0268569 {source="Orphanet:268173/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268173"} is_a: MONDO:0009563 {source="Orphanet:268173", source="linkedlifedata"} ! maple syrup urine disease property_value: confidence "0.6200294550810015" xsd:double @@ -332922,8 +332763,8 @@ synonym: "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency synonym: "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184] synonym: "thiamine-responsive maple syrup urine disease" EXACT CLINGEN_PREFERRED [] synonym: "thiamine-responsive MSUD" EXACT [Orphanet:268184] -xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="ORDO:268184/attributed", source="ORDO:268184/ntbt", source="Orphanet:268184"} -xref: OMIM:248600 {source="MONDO:subClassOf", source="ORDO:268184/ntbt", source="Orphanet:268184"} +xref: ICD10CM:E71.0 {source="MONDO:subClassOf", source="Orphanet:268184", source="Orphanet:268184/attributed", source="Orphanet:268184/ntbt"} +xref: OMIM:248600 {source="MONDO:subClassOf", source="Orphanet:268184", source="Orphanet:268184/ntbt"} xref: Orphanet:268184 {source="MONDO:equivalentTo"} xref: UMLS:C0751285 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268184"} is_a: MONDO:0009563 {source="MONDO:Redundant", source="Orphanet:268184"} ! maple syrup urine disease @@ -332937,7 +332778,7 @@ name: mycophenolate mofetil embryopathy def: "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." [Orphanet:268249] subset: ordo_disease {source="Orphanet:268249"} synonym: "MMF embryopathy" EXACT [Orphanet:268249] -xref: ICD10CM:Q86.8 {source="Orphanet:268249", source="ORDO:268249/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:268249/ntbt", source="Orphanet:268249"} xref: Orphanet:268249 {source="MONDO:equivalentTo"} xref: SCTID:723406000 {source="MONDO:equivalentTo"} xref: UMLS:C4509879 {source="MONDO:equivalentTo"} @@ -332952,7 +332793,7 @@ synonym: "21q22.13q22.2 microdeletion syndrome" EXACT [Orphanet:268261] synonym: "Del(21)(q22.13q22.2)" EXACT [Orphanet:268261] synonym: "monosomy 21q22.13-q22.2" EXACT [Orphanet:268261] synonym: "monosomy 21q22.13q22.2" EXACT [Orphanet:268261] -xref: ICD10CM:Q93.5 {source="ORDO:268261/attributed", source="ORDO:268261/ntbt", source="Orphanet:268261"} +xref: ICD10CM:Q93.5 {source="Orphanet:268261", source="Orphanet:268261/attributed", source="Orphanet:268261/ntbt"} xref: Orphanet:268261 {source="MONDO:equivalentTo"} xref: UMLS:CN202414 {source="MONDO:equivalentTo"} is_a: MONDO:0013578 {source="Orphanet:268261"} ! DYRK1A-related intellectual disability syndrome @@ -332965,11 +332806,11 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3664 id: MONDO:0017057 name: hereditary thrombocytopenia with normal platelets subset: ordo_disease {source="Orphanet:268322"} -xref: ICD10CM:D69.4 {source="Orphanet:268322", source="ORDO:268322/attributed", source="ORDO:268322/ntbt"} -xref: OMIM:188000 {source="Orphanet:268322", source="MONDO:superClassOf", source="ORDO:268322/btnt"} -xref: OMIM:273900 {source="Orphanet:268322", source="MONDO:superClassOf", source="ORDO:268322/btnt"} -xref: OMIM:313900 {source="Orphanet:268322", source="MONDO:superClassOf", source="ORDO:268322/btnt"} -xref: OMIM:612004 {source="Orphanet:268322", source="MONDO:superClassOf", source="ORDO:268322/btnt"} +xref: ICD10CM:D69.4 {source="Orphanet:268322", source="Orphanet:268322/attributed", source="Orphanet:268322/ntbt"} +xref: OMIM:188000 {source="Orphanet:268322", source="Orphanet:268322/btnt", source="MONDO:superClassOf"} +xref: OMIM:273900 {source="Orphanet:268322", source="Orphanet:268322/btnt", source="MONDO:superClassOf"} +xref: OMIM:313900 {source="Orphanet:268322", source="Orphanet:268322/btnt", source="MONDO:superClassOf"} +xref: OMIM:612004 {source="Orphanet:268322", source="Orphanet:268322/btnt", source="MONDO:superClassOf"} xref: Orphanet:268322 {source="MONDO:equivalentTo"} xref: UMLS:CN227073 {source="MONDO:equivalentTo"} is_a: MONDO:0018796 {source="Orphanet:268322"} ! isolated constitutional thrombocytopenia @@ -332985,7 +332826,7 @@ synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease" EXACT [] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "RI-CMT" EXACT [Orphanet:268337] xref: GARD:0012452 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:268337", source="ORDO:268337/attributed", source="ORDO:268337/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:268337/attributed", source="Orphanet:268337/ntbt", source="Orphanet:268337"} xref: Orphanet:268337 {source="MONDO:equivalentTo"} xref: UMLS:CN202416 {source="MONDO:equivalentTo"} is_a: MONDO:0018778 {source="MONDO:Redundant", source="Orphanet:268337"} ! intermediate Charcot-Marie-Tooth disease @@ -333001,9 +332842,9 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:268357"} synonym: "disorder of neural tube closure" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "neural tube closure disease" EXACT [MONDO:design_pattern] -xref: OMIM:182940 {source="Orphanet:268357", source="MONDO:superClassOf", source="ORDO:268357/btnt"} -xref: OMIM:301410 {source="Orphanet:268357", source="MONDO:superClassOf", source="ORDO:268357/btnt"} -xref: OMIM:601634 {source="Orphanet:268357", source="MONDO:superClassOf", source="ORDO:268357/btnt"} +xref: OMIM:182940 {source="Orphanet:268357", source="Orphanet:268357/btnt", source="MONDO:superClassOf"} +xref: OMIM:301410 {source="Orphanet:268357", source="Orphanet:268357/btnt", source="MONDO:superClassOf"} +xref: OMIM:601634 {source="Orphanet:268357", source="Orphanet:268357/btnt", source="MONDO:superClassOf"} xref: Orphanet:268357 {source="MONDO:equivalentTo"} is_a: MONDO:0018075 {source="Orphanet:268357"} ! neural tube defect intersection_of: MONDO:0000001 ! disease or disorder @@ -333013,36 +332854,36 @@ intersection_of: disease_has_basis_in_disruption_of GO:0001843 ! neural tube clo id: MONDO:0017060 name: open iniencephaly subset: ordo_clinical_subtype {source="Orphanet:268363"} -xref: ICD10CM:Q00.2 {source="MONDO:subClassOf", source="ORDO:268363/attributed", source="ORDO:268363/ntbt", source="Orphanet:268363"} +xref: ICD10CM:Q00.2 {source="MONDO:subClassOf", source="Orphanet:268363/attributed", source="Orphanet:268363/ntbt", source="Orphanet:268363"} xref: Orphanet:268363 {source="MONDO:equivalentTo"} xref: SCTID:203928008 {source="MONDO:equivalentTo"} -xref: UMLS:C0431285 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:268363/e", source="Orphanet:268363"} +xref: UMLS:C0431285 {source="Orphanet:268363/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268363"} is_a: MONDO:0018968 {source="Orphanet:268363", source="linkedlifedata"} ! iniencephaly [Term] id: MONDO:0017061 name: closed iniencephaly subset: ordo_clinical_subtype {source="Orphanet:268366"} -xref: ICD10CM:Q00.2 {source="MONDO:subClassOf", source="Orphanet:268366", source="ORDO:268366/attributed", source="ORDO:268366/ntbt"} +xref: ICD10CM:Q00.2 {source="MONDO:subClassOf", source="Orphanet:268366", source="Orphanet:268366/attributed", source="Orphanet:268366/ntbt"} xref: Orphanet:268366 {source="MONDO:equivalentTo"} xref: SCTID:203927003 {source="MONDO:equivalentTo"} -xref: UMLS:C0431286 {source="Orphanet:268366", source="ORDO:268366/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0431286 {source="Orphanet:268366", source="Orphanet:268366/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018968 {source="Orphanet:268366", source="linkedlifedata"} ! iniencephaly [Term] id: MONDO:0017062 name: spina bifida aperta subset: ordo_morphological_anomaly {source="Orphanet:268369"} -xref: ICD10CM:Q05.0 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.1 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.2 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.3 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.4 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.5 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.6 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.7 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.8 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} -xref: ICD10CM:Q05.9 {source="Orphanet:268369", source="ORDO:268369/attributed", source="ORDO:268369/ntbt"} +xref: ICD10CM:Q05.0 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.1 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.2 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.3 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.4 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.5 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.6 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.7 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.8 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} +xref: ICD10CM:Q05.9 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} xref: Orphanet:268369 {source="MONDO:equivalentTo"} xref: SCTID:58557008 {source="MONDO:equivalentTo"} xref: UMLS:CN202421 {source="MONDO:equivalentTo"} @@ -333110,22 +332951,22 @@ synonym: "open spina bifida" RELATED [MESH:D016137] synonym: "spina bifida aperta" RELATED [MESH:D016137] synonym: "spina bifida manifesta" RELATED [MESH:D016137] synonym: "spina bifida, open" RELATED [MESH:D016137] -xref: ICD10CM:Q05.0 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.1 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.2 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.3 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.4 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.5 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.6 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.7 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.8 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: ICD10CM:Q05.9 {source="Orphanet:268744", source="ORDO:268744/attributed", source="ORDO:268744/ntbt"} -xref: MedDRA:10071011 {source="Orphanet:268744", source="ORDO:268744/e"} +xref: ICD10CM:Q05.0 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.1 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.2 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.3 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.4 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.5 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.6 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.7 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.8 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: ICD10CM:Q05.9 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} +xref: MedDRA:10071011 {source="Orphanet:268744", source="Orphanet:268744/e"} xref: MESH:D016137 {source="MONDO:equivalentTo"} xref: NCIT:C101201 {source="MONDO:equivalentTo"} xref: Orphanet:268744 {source="MONDO:equivalentTo"} xref: UMLS:C0025312 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C101201"} -xref: UMLS:C0037917 {source="Orphanet:268744", source="ORDO:268744/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0037917 {source="Orphanet:268744", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268744/e"} is_a: MONDO:0008449 {source="MESH:D016137", source="MONDO:Redundant", source="NCIT:C101201", source="indirect"} ! spina bifida is_a: MONDO:0019351 {source="Orphanet:268744"} ! isolated spina bifida @@ -333176,14 +333017,14 @@ id: MONDO:0017076 name: posterior meningocele def: "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." [Orphanet:268810] subset: ordo_morphological_anomaly {source="Orphanet:268810"} -xref: ICD10CM:Q05.1 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.2 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.3 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.4 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.6 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.7 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.8 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} -xref: ICD10CM:Q05.9 {source="Orphanet:268810", source="ORDO:268810/attributed", source="ORDO:268810/ntbt"} +xref: ICD10CM:Q05.1 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.2 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.3 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.4 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.6 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.7 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.8 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: ICD10CM:Q05.9 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} xref: Orphanet:268810 {source="MONDO:equivalentTo"} xref: UMLS:CN202439 {source="MONDO:equivalentTo"} is_a: MONDO:0017069 {source="Orphanet:268810"} ! spina bifida cystica @@ -333192,16 +333033,16 @@ is_a: MONDO:0017069 {source="Orphanet:268810"} ! spina bifida cystica id: MONDO:0017077 name: myelocystocele subset: ordo_morphological_anomaly {source="Orphanet:268813"} -xref: ICD10CM:Q05.0 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.1 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.2 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.3 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.4 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.5 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.6 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.7 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.8 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} -xref: ICD10CM:Q05.9 {source="ORDO:268813/attributed", source="ORDO:268813/ntbt", source="Orphanet:268813"} +xref: ICD10CM:Q05.0 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.1 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.2 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.3 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.4 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.5 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.6 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.7 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.8 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} +xref: ICD10CM:Q05.9 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} xref: Orphanet:268813 {source="MONDO:equivalentTo"} xref: SCTID:203994003 {source="MONDO:equivalentTo"} is_a: MONDO:0017069 {source="Orphanet:268813"} ! spina bifida cystica @@ -333217,11 +333058,11 @@ synonym: "cephalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cranium bifidum" EXACT [NCIT:C84687] synonym: "encephalocele" EXACT [NCIT:C84687] xref: HP:0011815 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q01.0 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="MONDO:superClassOf", source="Orphanet:268817"} -xref: ICD10CM:Q01.1 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="Orphanet:268817"} -xref: ICD10CM:Q01.2 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="MONDO:superClassOf", source="Orphanet:268817"} -xref: ICD10CM:Q01.8 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="Orphanet:268817"} -xref: ICD10CM:Q01.9 {source="ORDO:268817/attributed", source="ORDO:268817/ntbt", source="Orphanet:268817"} +xref: ICD10CM:Q01.0 {source="MONDO:superClassOf", source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} +xref: ICD10CM:Q01.1 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} +xref: ICD10CM:Q01.2 {source="MONDO:superClassOf", source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} +xref: ICD10CM:Q01.8 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} +xref: ICD10CM:Q01.9 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} xref: ICD9:742.0 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C84687 {source="MONDO:equivalentTo"} xref: Orphanet:268817 {source="MONDO:equivalentTo"} @@ -333243,15 +333084,15 @@ synonym: "cranial meningocele" RELATED [Orphanet:268820] synonym: "encephalomeningocele" RELATED [GARD:0003473] synonym: "meningoencephalocele" EXACT [] xref: GARD:0003473 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q01.0 {source="MONDO:relatedTo", source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"} -xref: ICD10CM:Q01.1 {source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"} -xref: ICD10CM:Q01.2 {source="MONDO:relatedTo", source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"} -xref: ICD10CM:Q01.8 {source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"} -xref: ICD10CM:Q01.9 {source="Orphanet:268820", source="ORDO:268820/ntbt", source="ORDO:268820/inclusion"} +xref: ICD10CM:Q01.0 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="MONDO:relatedTo", source="Orphanet:268820"} +xref: ICD10CM:Q01.1 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"} +xref: ICD10CM:Q01.2 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="MONDO:relatedTo", source="Orphanet:268820"} +xref: ICD10CM:Q01.8 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"} +xref: ICD10CM:Q01.9 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"} xref: NCIT:C124517 {source="MONDO:equivalentTo"} xref: Orphanet:268820 {source="MONDO:equivalentTo"} xref: SCTID:52330001 {source="MONDO:equivalentTo"} -xref: UMLS:C0009694 {source="NCIT:C124517", source="ORDO:268820/e", source="Orphanet:268820", source="MONDO:equivalentTo"} +xref: UMLS:C0009694 {source="NCIT:C124517", source="Orphanet:268820", source="MONDO:equivalentTo", source="Orphanet:268820/e"} xref: UMLS:C0266456 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0003473"} is_a: MONDO:0001147 {source="NCIT:C124517"} ! meningocele is_a: MONDO:0017078 {source="MONDO:Redundant", source="Orphanet:268820", source="linkedlifedata"} ! cephalocele @@ -333262,27 +333103,27 @@ intersection_of: disease_has_location UBERON:0003547 ! brain meninx id: MONDO:0017080 name: occipital encephalocele subset: ordo_clinical_subtype {source="Orphanet:268823"} -xref: ICD10CM:Q01.2 {source="MONDO:equivalentTo", source="Orphanet:268823", source="ORDO:268823/e", source="ORDO:268823/specific"} +xref: ICD10CM:Q01.2 {source="MONDO:equivalentTo", source="Orphanet:268823", source="Orphanet:268823/specific", source="Orphanet:268823/e"} xref: Orphanet:268823 {source="MONDO:equivalentTo"} xref: SCTID:42376006 {source="MONDO:equivalentTo"} -xref: UMLS:C0014067 {source="Orphanet:268823", source="MONDO:notFoundInDiseaseSubset", source="ORDO:268823/e"} +xref: UMLS:C0014067 {source="Orphanet:268823", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268823/e"} is_a: MONDO:0016057 {source="Orphanet:268823"} ! isolated encephalocele [Term] id: MONDO:0017081 name: parietal encephalocele subset: ordo_clinical_subtype {source="Orphanet:268826"} -xref: ICD10CM:Q01.8 {source="ORDO:268826/attributed", source="ORDO:268826/ntbt", source="Orphanet:268826"} +xref: ICD10CM:Q01.8 {source="Orphanet:268826/attributed", source="Orphanet:268826/ntbt", source="Orphanet:268826"} xref: Orphanet:268826 {source="MONDO:equivalentTo"} xref: SCTID:253109005 {source="MONDO:equivalentTo"} -xref: UMLS:C0431294 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:268826/e", source="Orphanet:268826"} +xref: UMLS:C0431294 {source="Orphanet:268826/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268826"} is_a: MONDO:0016057 {source="Orphanet:268826"} ! isolated encephalocele [Term] id: MONDO:0017082 name: basal encephalocele subset: ordo_clinical_subtype {source="Orphanet:268829"} -xref: ICD10CM:Q01.8 {source="Orphanet:268829", source="ORDO:268829/attributed", source="ORDO:268829/ntbt"} +xref: ICD10CM:Q01.8 {source="Orphanet:268829/attributed", source="Orphanet:268829/ntbt", source="Orphanet:268829"} xref: Orphanet:268829 {source="MONDO:equivalentTo"} xref: UMLS:C4023176 {source="MONDO:equivalentTo"} is_a: MONDO:0016057 {source="Orphanet:268829"} ! isolated encephalocele @@ -333332,14 +333173,14 @@ id: MONDO:0017087 name: neurenteric cyst subset: ordo_morphological_anomaly {source="Orphanet:268865"} xref: Orphanet:268865 {source="MONDO:equivalentTo"} -xref: UMLS:C0027806 {source="Orphanet:268865", source="ORDO:268865/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0027806 {source="Orphanet:268865", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268865/e"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect [Term] id: MONDO:0017088 name: isolated amyelia subset: ordo_morphological_anomaly {source="Orphanet:268868"} -xref: ICD10CM:Q06.0 {source="ORDO:268868/e", source="Orphanet:268868", source="ORDO:268868/specific"} +xref: ICD10CM:Q06.0 {source="Orphanet:268868/specific", source="Orphanet:268868", source="Orphanet:268868/e"} xref: Orphanet:268868 {source="MONDO:equivalentTo"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect @@ -333351,7 +333192,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268920"} synonym: "isolated macrencephaly" EXACT [Orphanet:268920] synonym: "isolated megalencephaly (disease)" EXACT [] synonym: "nonsyndromic megalencephaly (disease)" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q04.5 {source="Orphanet:268920", source="ORDO:268920/attributed", source="ORDO:268920/ntbt"} +xref: ICD10CM:Q04.5 {source="Orphanet:268920/attributed", source="Orphanet:268920/ntbt", source="Orphanet:268920"} xref: Orphanet:268920 {source="MONDO:equivalentTo"} xref: UMLS:C0221355 {source="Orphanet:268920", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016608 {source="MONDO:Redundant", source="Orphanet:268920"} ! megalencephaly @@ -333367,7 +333208,7 @@ name: midline cerebral malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:268926"} synonym: "Midline brain malformation" EXACT [Orphanet:268926] -xref: ICD10CM:Q04.8 {source="ORDO:268926/attributed", source="ORDO:268926/ntbt", source="Orphanet:268926"} +xref: ICD10CM:Q04.8 {source="Orphanet:268926", source="Orphanet:268926/attributed", source="Orphanet:268926/ntbt"} xref: Orphanet:268926 {source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:268926"} ! cerebral malformation is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:268926", source="Orphanet:268926/inferred"} ! genetic nervous system disorder @@ -333379,14 +333220,14 @@ id: MONDO:0017091 name: bilateral polymicrogyria def: "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." [Orphanet:268940] subset: ordo_morphological_anomaly {source="Orphanet:268940"} -xref: ICD10CM:Q04.3 {source="Orphanet:268940", source="ORDO:268940/attributed", source="ORDO:268940/ntbt"} -xref: OMIM:300388 {source="Orphanet:268940", source="MONDO:superClassOf", source="ORDO:268940/btnt"} -xref: OMIM:606854 {source="Orphanet:268940", source="MONDO:superClassOf", source="ORDO:268940/btnt"} -xref: OMIM:610031 {source="Orphanet:268940", source="MONDO:superClassOf", source="ORDO:268940/btnt"} -xref: OMIM:612691 {source="Orphanet:268940", source="MONDO:superClassOf", source="ORDO:268940/btnt"} -xref: OMIM:614833 {source="MONDO:superClassOf", source="ORDO:268940/btnt"} -xref: OMIM:615752 {source="Orphanet:268940", source="MONDO:superClassOf", source="ORDO:268940/btnt"} -xref: OMIM:616531 {source="Orphanet:268940", source="MONDO:superClassOf", source="ORDO:268940/btnt"} +xref: ICD10CM:Q04.3 {source="Orphanet:268940", source="Orphanet:268940/attributed", source="Orphanet:268940/ntbt"} +xref: OMIM:300388 {source="Orphanet:268940", source="Orphanet:268940/btnt", source="MONDO:superClassOf"} +xref: OMIM:606854 {source="Orphanet:268940", source="Orphanet:268940/btnt", source="MONDO:superClassOf"} +xref: OMIM:610031 {source="Orphanet:268940", source="Orphanet:268940/btnt", source="MONDO:superClassOf"} +xref: OMIM:612691 {source="Orphanet:268940", source="Orphanet:268940/btnt", source="MONDO:superClassOf"} +xref: OMIM:614833 {source="Orphanet:268940/btnt", source="MONDO:superClassOf"} +xref: OMIM:615752 {source="Orphanet:268940", source="Orphanet:268940/btnt", source="MONDO:superClassOf"} +xref: OMIM:616531 {source="Orphanet:268940", source="Orphanet:268940/btnt", source="MONDO:superClassOf"} xref: Orphanet:268940 {source="MONDO:equivalentTo"} xref: SCTID:765757003 {source="MONDO:equivalentTo"} is_a: MONDO:0000087 {source="Orphanet:268940"} ! polymicrogyria @@ -333396,7 +333237,7 @@ id: MONDO:0017092 name: unilateral polymicrogyria def: "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." [Orphanet:268943] subset: ordo_morphological_anomaly {source="Orphanet:268943"} -xref: ICD10CM:Q04.3 {source="ORDO:268943/attributed", source="ORDO:268943/ntbt", source="Orphanet:268943"} +xref: ICD10CM:Q04.3 {source="Orphanet:268943", source="Orphanet:268943/attributed", source="Orphanet:268943/ntbt"} xref: Orphanet:268943 {source="MONDO:equivalentTo"} xref: SCTID:715905006 {source="MONDO:equivalentTo"} xref: UMLS:C4024960 {source="MONDO:equivalentTo"} @@ -333407,7 +333248,7 @@ id: MONDO:0017093 name: unilateral focal polymicrogyria def: "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." [Orphanet:268947] subset: ordo_clinical_subtype {source="Orphanet:268947"} -xref: ICD10CM:Q04.3 {source="ORDO:268947/attributed", source="ORDO:268947/ntbt", source="Orphanet:268947"} +xref: ICD10CM:Q04.3 {source="Orphanet:268947/attributed", source="Orphanet:268947/ntbt", source="Orphanet:268947"} xref: Orphanet:268947 {source="MONDO:equivalentTo"} is_a: MONDO:0017092 {source="Orphanet:268947"} ! unilateral polymicrogyria @@ -333419,7 +333260,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:268950"} synonym: "brain cortical dysplasia" EXACT [Orphanet:268950] synonym: "cortical dysplasia" EXACT [NCIT:C42088] -xref: ICD10CM:Q04.8 {source="Orphanet:268950", source="ORDO:268950/attributed", source="ORDO:268950/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:268950/attributed", source="Orphanet:268950/ntbt", source="Orphanet:268950"} xref: MESH:D054220 {source="MONDO:equivalentTo"} xref: NCIT:C42088 {source="MONDO:equivalentTo"} xref: Orphanet:268950 {source="MONDO:equivalentTo"} @@ -333433,7 +333274,7 @@ id: MONDO:0017095 name: isolated focal cortical dysplasia type I subset: ordo_clinical_subtype {source="Orphanet:268961"} synonym: "FCD type I" EXACT [Orphanet:268961] -xref: ICD10CM:Q04.8 {source="Orphanet:268961", source="ORDO:268961/attributed", source="ORDO:268961/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:268961/attributed", source="Orphanet:268961/ntbt", source="Orphanet:268961"} xref: Orphanet:268961 {source="MONDO:equivalentTo"} xref: UMLS:CN202452 {source="MONDO:equivalentTo"} is_a: MONDO:0019009 {source="Orphanet:268961"} ! isolated focal cortical dysplasia @@ -333443,7 +333284,7 @@ id: MONDO:0017096 name: isolated focal cortical dysplasia type Ia subset: ordo_histopathological_subtype {source="Orphanet:268973"} synonym: "FCD type Ia" EXACT [Orphanet:268973] -xref: ICD10CM:Q04.8 {source="Orphanet:268973", source="ORDO:268973/attributed", source="ORDO:268973/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:268973", source="Orphanet:268973/attributed", source="Orphanet:268973/ntbt"} xref: Orphanet:268973 {source="MONDO:equivalentTo"} xref: UMLS:CN202453 {source="MONDO:equivalentTo"} is_a: MONDO:0017095 {source="Orphanet:268973"} ! isolated focal cortical dysplasia type I @@ -333453,7 +333294,7 @@ id: MONDO:0017097 name: isolated focal cortical dysplasia type Ib subset: ordo_histopathological_subtype {source="Orphanet:268980"} synonym: "FCD type IB" EXACT [Orphanet:268980] -xref: ICD10CM:Q04.8 {source="ORDO:268980/attributed", source="ORDO:268980/ntbt", source="Orphanet:268980"} +xref: ICD10CM:Q04.8 {source="Orphanet:268980/attributed", source="Orphanet:268980/ntbt", source="Orphanet:268980"} xref: Orphanet:268980 {source="MONDO:equivalentTo"} xref: UMLS:CN202454 {source="MONDO:equivalentTo"} is_a: MONDO:0017095 {source="Orphanet:268980"} ! isolated focal cortical dysplasia type I @@ -333463,7 +333304,7 @@ id: MONDO:0017098 name: isolated focal cortical dysplasia type Ic subset: ordo_histopathological_subtype {source="Orphanet:268987"} synonym: "FCD type Ic" EXACT [Orphanet:268987] -xref: ICD10CM:Q04.8 {source="ORDO:268987/attributed", source="ORDO:268987/ntbt", source="Orphanet:268987"} +xref: ICD10CM:Q04.8 {source="Orphanet:268987", source="Orphanet:268987/attributed", source="Orphanet:268987/ntbt"} xref: Orphanet:268987 {source="MONDO:equivalentTo"} xref: UMLS:CN202455 {source="MONDO:equivalentTo"} is_a: MONDO:0017095 {source="Orphanet:268987"} ! isolated focal cortical dysplasia type I @@ -333479,7 +333320,7 @@ id: MONDO:0017100 name: neutropenia-monocytopenia-deafness syndrome def: "Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." [Orphanet:2690] subset: ordo_disease {source="Orphanet:2690"} -xref: ICD10CM:D82.8 {source="Orphanet:2690", source="ORDO:2690/attributed", source="ORDO:2690/ntbt"} +xref: ICD10CM:D82.8 {source="Orphanet:2690/attributed", source="Orphanet:2690/ntbt", source="Orphanet:2690"} xref: Orphanet:2690 {source="MONDO:equivalentTo"} xref: UMLS:CN202458 {source="MONDO:equivalentTo"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia @@ -333490,8 +333331,8 @@ id: MONDO:0017101 name: isolated focal cortical dysplasia type IIa subset: ordo_histopathological_subtype {source="Orphanet:269001"} synonym: "FCD type IIa" EXACT [Orphanet:269001] -xref: ICD10CM:Q04.8 {source="ORDO:269001/attributed", source="ORDO:269001/ntbt", source="Orphanet:269001"} -xref: OMIM:607341 {source="MONDO:subClassOf", source="ORDO:269001/ntbt", source="Orphanet:269001"} +xref: ICD10CM:Q04.8 {source="Orphanet:269001/attributed", source="Orphanet:269001/ntbt", source="Orphanet:269001"} +xref: OMIM:607341 {source="MONDO:subClassOf", source="Orphanet:269001/ntbt", source="Orphanet:269001"} xref: Orphanet:269001 {source="MONDO:equivalentTo"} is_a: MONDO:0011818 {source="Orphanet:269001"} ! isolated focal cortical dysplasia type II property_value: confidence "0.8749999999999998" xsd:double @@ -333501,8 +333342,8 @@ id: MONDO:0017102 name: isolated focal cortical dysplasia type IIb subset: ordo_histopathological_subtype {source="Orphanet:269008"} synonym: "FCD type IIb" EXACT [Orphanet:269008] -xref: ICD10CM:Q04.8 {source="Orphanet:269008", source="ORDO:269008/attributed", source="ORDO:269008/ntbt"} -xref: OMIM:607341 {source="MONDO:subClassOf", source="Orphanet:269008", source="ORDO:269008/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:269008/attributed", source="Orphanet:269008/ntbt", source="Orphanet:269008"} +xref: OMIM:607341 {source="MONDO:subClassOf", source="Orphanet:269008/ntbt", source="Orphanet:269008"} xref: Orphanet:269008 {source="MONDO:equivalentTo"} xref: UMLS:CN202460 {source="MONDO:equivalentTo"} is_a: MONDO:0011818 {source="Orphanet:269008"} ! isolated focal cortical dysplasia type II @@ -333551,7 +333392,7 @@ property_value: IAO:0000589 "retrocerebellar cyst (disease)" xsd:string id: MONDO:0017107 name: isolated cerebellar vermis agenesis subset: ordo_morphological_anomaly {source="Orphanet:269203"} -xref: ICD10CM:Q04.3 {source="Orphanet:269203", source="ORDO:269203/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:269203/ntbt", source="Orphanet:269203"} xref: Orphanet:269203 {source="MONDO:equivalentTo"} is_a: MONDO:0020130 {source="Orphanet:269203"} ! malformation of the cerebellar vermis @@ -333559,7 +333400,7 @@ is_a: MONDO:0020130 {source="Orphanet:269203"} ! malformation of the cerebellar id: MONDO:0017108 name: isolated total cerebellar vermis agenesis subset: ordo_clinical_subtype {source="Orphanet:269206"} -xref: ICD10CM:Q04.3 {source="Orphanet:269206", source="ORDO:269206/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:269206/ntbt", source="Orphanet:269206"} xref: Orphanet:269206 {source="MONDO:equivalentTo"} is_a: MONDO:0017107 {source="Orphanet:269206"} ! isolated cerebellar vermis agenesis @@ -333567,7 +333408,7 @@ is_a: MONDO:0017107 {source="Orphanet:269206"} ! isolated cerebellar vermis agen id: MONDO:0017109 name: isolated partial cerebellar vermis agenesis subset: ordo_clinical_subtype {source="Orphanet:269209"} -xref: ICD10CM:Q04.3 {source="ORDO:269209/ntbt", source="Orphanet:269209"} +xref: ICD10CM:Q04.3 {source="Orphanet:269209", source="Orphanet:269209/ntbt"} xref: Orphanet:269209 {source="MONDO:equivalentTo"} is_a: MONDO:0017107 {source="Orphanet:269209"} ! isolated cerebellar vermis agenesis @@ -333575,7 +333416,7 @@ is_a: MONDO:0017107 {source="Orphanet:269209"} ! isolated cerebellar vermis agen id: MONDO:0017110 name: isolated Dandy-Walker malformation with hydrocephalus subset: ordo_clinical_subtype {source="Orphanet:269212"} -xref: ICD10CM:Q03.1 {source="Orphanet:269212", source="ORDO:269212/attributed", source="ORDO:269212/ntbt"} +xref: ICD10CM:Q03.1 {source="Orphanet:269212", source="Orphanet:269212/attributed", source="Orphanet:269212/ntbt"} xref: Orphanet:269212 {source="MONDO:equivalentTo"} is_a: MONDO:0009072 {source="Orphanet:269212"} ! Dandy-Walker syndrome @@ -333583,7 +333424,7 @@ is_a: MONDO:0009072 {source="Orphanet:269212"} ! Dandy-Walker syndrome id: MONDO:0017111 name: isolated Dandy-Walker malformation without hydrocephalus subset: ordo_clinical_subtype {source="Orphanet:269215"} -xref: ICD10CM:Q03.1 {source="Orphanet:269215", source="ORDO:269215/attributed", source="ORDO:269215/ntbt"} +xref: ICD10CM:Q03.1 {source="Orphanet:269215", source="Orphanet:269215/attributed", source="Orphanet:269215/ntbt"} xref: Orphanet:269215 {source="MONDO:equivalentTo"} is_a: MONDO:0009072 {source="Orphanet:269215"} ! Dandy-Walker syndrome @@ -333592,7 +333433,7 @@ id: MONDO:0017112 name: isolated unilateral hemispheric cerebellar hypoplasia def: "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." [Orphanet:269218] subset: ordo_morphological_anomaly {source="Orphanet:269218"} -xref: ICD10CM:Q04.3 {source="ORDO:269218/ntbt", source="Orphanet:269218"} +xref: ICD10CM:Q04.3 {source="Orphanet:269218", source="Orphanet:269218/ntbt"} xref: Orphanet:269218 {source="MONDO:equivalentTo"} xref: SCTID:766934006 {source="MONDO:equivalentTo"} is_a: MONDO:0020131 {source="Orphanet:269218"} ! malformation of the cerebellar hemispheres @@ -333602,7 +333443,7 @@ id: MONDO:0017113 name: isolated bilateral hemispheric cerebellar hypoplasia def: "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." [Orphanet:269221] subset: ordo_morphological_anomaly {source="Orphanet:269221"} -xref: ICD10CM:Q04.3 {source="ORDO:269221/ntbt", source="Orphanet:269221"} +xref: ICD10CM:Q04.3 {source="Orphanet:269221/ntbt", source="Orphanet:269221"} xref: Orphanet:269221 {source="MONDO:equivalentTo"} is_a: MONDO:0020131 {source="Orphanet:269221"} ! malformation of the cerebellar hemispheres @@ -333612,7 +333453,7 @@ name: global cerebellar malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:269224"} synonym: "diffuse cerebellar malformation" EXACT [Orphanet:269224] -xref: ICD10CM:Q04.3 {source="Orphanet:269224", source="ORDO:269224/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:269224", source="Orphanet:269224/ntbt"} xref: Orphanet:269224 {source="MONDO:equivalentTo"} is_a: MONDO:0015915 {source="Orphanet:269224"} ! cerebellar malformation @@ -333627,7 +333468,7 @@ id: MONDO:0017116 name: congenital communicating hydrocephalus subset: ordo_clinical_subtype {source="Orphanet:269505"} synonym: "congenital non-obstructive hydrocephalus" EXACT [Orphanet:269505] -xref: ICD10CM:Q03.8 {source="ORDO:269505/attributed", source="ORDO:269505/ntbt", source="Orphanet:269505"} +xref: ICD10CM:Q03.8 {source="Orphanet:269505", source="Orphanet:269505/attributed", source="Orphanet:269505/ntbt"} xref: Orphanet:269505 {source="MONDO:equivalentTo"} is_a: MONDO:0016349 {source="Orphanet:269505"} ! congenital hydrocephalus relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -333638,9 +333479,9 @@ id: MONDO:0017117 name: congenital non-communicating hydrocephalus subset: ordo_clinical_subtype {source="Orphanet:269510"} synonym: "congenital obstructive hydrocephalus" EXACT [Orphanet:269510] -xref: ICD10CM:Q03.1 {source="Orphanet:269510", source="ORDO:269510/specific", source="ORDO:269510/btnt"} -xref: ICD10CM:Q03.2 {source="Orphanet:269510", source="ORDO:269510/specific", source="ORDO:269510/btnt"} -xref: ICD10CM:Q03.8 {source="Orphanet:269510", source="ORDO:269510/specific", source="ORDO:269510/btnt"} +xref: ICD10CM:Q03.1 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"} +xref: ICD10CM:Q03.2 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"} +xref: ICD10CM:Q03.8 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"} xref: Orphanet:269510 {source="MONDO:equivalentTo"} xref: SCTID:762295002 {source="MONDO:equivalentTo"} is_a: MONDO:0016349 {source="Orphanet:269510"} ! congenital hydrocephalus @@ -333724,14 +333565,14 @@ synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [DOID:005076 synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [DOID:0050763] xref: DOID:0050763 {source="MONDO:equivalentTo"} xref: GARD:0000794 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q89.7 {source="Orphanet:2697", source="ORDO:2697/attributed", source="ORDO:2697/ntbt"} -xref: MESH:C535382 {source="ORDO:2697/e", source="Orphanet:2697", source="MONDO:equivalentTo"} -xref: OMIM:208085 {source="DOID:0050763", source="Orphanet:2697", source="MONDO:superClassOf", source="ORDO:2697/btnt"} -xref: OMIM:613404 {source="DOID:0050763", source="Orphanet:2697", source="MONDO:superClassOf", source="ORDO:2697/btnt"} +xref: ICD10CM:Q89.7 {source="Orphanet:2697/attributed", source="Orphanet:2697/ntbt", source="Orphanet:2697"} +xref: MESH:C535382 {source="Orphanet:2697", source="MONDO:equivalentTo", source="Orphanet:2697/e"} +xref: OMIM:208085 {source="Orphanet:2697/btnt", source="DOID:0050763", source="Orphanet:2697", source="MONDO:superClassOf"} +xref: OMIM:613404 {source="Orphanet:2697/btnt", source="DOID:0050763", source="Orphanet:2697", source="MONDO:superClassOf"} xref: OMIMPS:208085 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="MONDO:equivalentTo"} xref: SCTID:720513002 {source="MONDO:equivalentTo"} -xref: UMLS:C1859722 {source="ORDO:2697/e", source="Orphanet:2697", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1859722 {source="Orphanet:2697", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2697/e"} is_a: MONDO:0002254 {source="DOID:0050763", source="MONDO:Redundant", source="indirect"} ! syndromic disease is_a: MONDO:0008823 {source="linkedlifedata"} ! arthrogryposis multiplex congenita 2, neurogenic type is_a: MONDO:0015168 {source="Orphanet:2697", source="indirect"} ! arthrogryposis multiplex congenita @@ -333755,17 +333596,17 @@ synonym: "oro-facial noma" RELATED [GARD:0004001] xref: DOID:9672 {source="EFO:1001063", source="MONDO:equivalentTo"} xref: EFO:1001063 {source="MONDO:equivalentTo"} xref: GARD:0004001 {source="MONDO:equivalentTo"} -xref: ICD10CM:A69.0 {source="Orphanet:2700", source="ORDO:2700/e", source="DOID:9672"} +xref: ICD10CM:A69.0 {source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"} xref: ICD9:528.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9672"} -xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="ORDO:2700/e"} -xref: MESH:D009625 {source="EFO:1001063", source="MONDO:equivalentTo", source="Orphanet:2700", source="ORDO:2700/e", source="DOID:9672"} +xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="Orphanet:2700/e"} +xref: MESH:D009625 {source="EFO:1001063", source="MONDO:equivalentTo", source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"} xref: NCIT:C34852 {source="MONDO:equivalentTo", source="DOID:9672"} xref: Orphanet:2700 {source="MONDO:equivalentTo"} xref: SCTID:18116006 {source="MONDO:equivalentTo", source="DOID:9672"} xref: SCTID:196528007 {source="DOID:9672"} xref: SCTID:266427007 {source="DOID:9672"} xref: SCTID:399050001 {source="DOID:9672"} -xref: UMLS:C0028271 {source="MONDO:equivalentTo", source="Orphanet:2700", source="ORDO:2700/e", source="DOID:9672", source="NCIT:C34852"} +xref: UMLS:C0028271 {source="MONDO:equivalentTo", source="Orphanet:2700", source="DOID:9672", source="NCIT:C34852", source="Orphanet:2700/e"} is_a: MONDO:0004848 {source="DOID:9672", source="NCIT:C34852"} ! ulcerative stomatitis is_a: MONDO:0005113 {source="Orphanet:2700"} ! bacterial infectious disease relationship: excluded_subClassOf MONDO:0005318 {source="EFO:1001063"} ! canker sore @@ -333906,11 +333747,11 @@ name: omodysplasia def: "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." [Orphanet:2733] subset: ordo_malformation_syndrome {source="Orphanet:2733"} xref: DOID:0060288 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:2733/attributed", source="ORDO:2733/ntbt", source="Orphanet:2733"} +xref: ICD10CM:Q78.8 {source="Orphanet:2733", source="Orphanet:2733/attributed", source="Orphanet:2733/ntbt"} xref: MESH:C537746 {source="DOID:0060288"} xref: MESH:C567664 {source="DOID:0060288", source="MONDO:superClassOf"} -xref: OMIM:164745 {source="DOID:0060288", source="ORDO:2733/btnt", source="Orphanet:2733", source="MONDO:superClassOf"} -xref: OMIM:258315 {source="DOID:0060288", source="ORDO:2733/btnt", source="Orphanet:2733", source="MONDO:superClassOf"} +xref: OMIM:164745 {source="DOID:0060288", source="Orphanet:2733", source="MONDO:superClassOf", source="Orphanet:2733/btnt"} +xref: OMIM:258315 {source="DOID:0060288", source="Orphanet:2733", source="MONDO:superClassOf", source="Orphanet:2733/btnt"} xref: OMIMPS:258315 {source="MONDO:equivalentTo"} xref: Orphanet:2733 {source="DOID:0060288", source="MONDO:equivalentTo"} xref: SCTID:725164008 {source="MONDO:equivalentTo"} @@ -333938,17 +333779,17 @@ synonym: "volvulosis" EXACT [DOID:11678] xref: DOID:11678 {source="EFO:0007402", source="MONDO:equivalentTo"} xref: EFO:0007402 {source="MONDO:equivalentTo"} xref: GARD:0007252 {source="MONDO:equivalentTo"} -xref: ICD10CM:B73 {source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737", source="ORDO:2737/e"} +xref: ICD10CM:B73 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737"} xref: ICD9:125.3 {source="DOID:11678"} -xref: MedDRA:10030314 {source="Orphanet:2737", source="ORDO:2737/e"} -xref: MedDRA:10039202 {source="Orphanet:2737", source="ORDO:2737/e"} -xref: MESH:D009855 {source="DOID:11678", source="EFO:0007402", source="MONDO:equivalentTo", source="Orphanet:2737", source="ORDO:2737/e"} -xref: MESH:D015827 {source="MONDO:superClassOf", source="Orphanet:2737", source="ORDO:2737/e"} +xref: MedDRA:10030314 {source="Orphanet:2737/e", source="Orphanet:2737"} +xref: MedDRA:10039202 {source="Orphanet:2737/e", source="Orphanet:2737"} +xref: MESH:D009855 {source="Orphanet:2737/e", source="DOID:11678", source="EFO:0007402", source="MONDO:equivalentTo", source="Orphanet:2737"} +xref: MESH:D015827 {source="Orphanet:2737/e", source="MONDO:superClassOf", source="Orphanet:2737"} xref: NCIT:C34861 {source="DOID:11678", source="MONDO:equivalentTo"} xref: Orphanet:2737 {source="MONDO:equivalentTo"} xref: SCTID:38539003 {source="DOID:11678", source="MONDO:equivalentTo"} -xref: UMLS:C0029001 {source="DOID:11678", source="MONDO:equivalentTo", source="NCIT:C34861", source="Orphanet:2737", source="ORDO:2737/e"} -xref: UMLS:C0029002 {source="MONDO:superClassOf", source="Orphanet:2737", source="ORDO:2737/e"} +xref: UMLS:C0029001 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="NCIT:C34861", source="Orphanet:2737"} +xref: UMLS:C0029002 {source="Orphanet:2737/e", source="MONDO:superClassOf", source="Orphanet:2737"} is_a: MONDO:0005135 {source="DOID:11678/inferred", source="MESH:D009855/inferred", source="MONDO:Redundant", source="NCIT:C34861", source="indirect", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0016075 {source="DOID:11678", source="MESH:D009855", source="Orphanet:2737", source="linkedlifedata", source="linkedlifedata/inferred"} ! filariasis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -333988,12 +333829,12 @@ synonym: "Opitz-GBBB syndrome" EXACT [MONDO:0000449] synonym: "telecanthus with associated abnormalities" RELATED [GARD:0000193] xref: DOID:0050780 {source="MONDO:equivalentTo"} xref: GARD:0000193 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:2745/attributed", source="ORDO:2745/ntbt", source="Orphanet:2745"} +xref: ICD10CM:Q87.8 {source="Orphanet:2745", source="Orphanet:2745/attributed", source="Orphanet:2745/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: KEGG:H00583 {source="MONDO:relatedTo", source="DOID:0050780"} xref: NCIT:C125487 {source="MONDO:equivalentTo"} -xref: OMIM:145410 {source="ORDO:2745/btnt", source="MONDO:superClassOf", source="Orphanet:2745", source="DOID:0050780"} -xref: OMIM:300000 {source="ORDO:2745/btnt", source="MONDO:superClassOf", source="Orphanet:2745", source="DOID:0050780"} +xref: OMIM:145410 {source="MONDO:superClassOf", source="Orphanet:2745", source="Orphanet:2745/btnt", source="DOID:0050780"} +xref: OMIM:300000 {source="MONDO:superClassOf", source="Orphanet:2745", source="Orphanet:2745/btnt", source="DOID:0050780"} xref: OMIMPS:300000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2745 {source="MONDO:equivalentTo"} xref: SCTID:81771002 {source="MONDO:equivalentTo"} @@ -334019,7 +333860,7 @@ subset: ordo_group_of_disorders {source="Orphanet:2749"} synonym: "oro-mandibular-limb hypogenesis syndrome" RELATED [GARD:0004116] synonym: "Oroacral syndrome" EXACT [Orphanet:2749] xref: GARD:0004116 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.5 {source="ORDO:2749/attributed", source="ORDO:2749/ntbt", source="Orphanet:2749"} +xref: ICD10CM:Q87.5 {source="Orphanet:2749/attributed", source="Orphanet:2749/ntbt", source="Orphanet:2749"} xref: Orphanet:2749 {source="MONDO:equivalentTo"} xref: UMLS:CN202556 {source="MONDO:equivalentTo"} is_a: MONDO:0015498 {source="Orphanet:2749"} ! oromandibular-limb anomalies syndrome @@ -334035,10 +333876,10 @@ synonym: "crash syndrome" EXACT [Orphanet:275543] synonym: "L1 syndrome" EXACT CLINGEN_PREFERRED [] synonym: "L1CAM syndrome" EXACT [Orphanet:275543] xref: GARD:0012524 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.8 {source="ORDO:275543/attributed", source="ORDO:275543/ntbt", source="Orphanet:275543"} -xref: OMIM:303350 {source="MONDO:superClassOf", source="ORDO:275543/btnt", source="Orphanet:275543"} -xref: OMIM:304100 {source="MONDO:superClassOf", source="ORDO:275543/btnt", source="Orphanet:275543"} -xref: OMIM:307000 {source="MONDO:superClassOf", source="ORDO:275543/btnt", source="Orphanet:275543"} +xref: ICD10CM:Q04.8 {source="Orphanet:275543", source="Orphanet:275543/attributed", source="Orphanet:275543/ntbt"} +xref: OMIM:303350 {source="MONDO:superClassOf", source="Orphanet:275543", source="Orphanet:275543/btnt"} +xref: OMIM:304100 {source="MONDO:superClassOf", source="Orphanet:275543", source="Orphanet:275543/btnt"} +xref: OMIM:307000 {source="MONDO:superClassOf", source="Orphanet:275543", source="Orphanet:275543/btnt"} xref: Orphanet:275543 {source="MONDO:equivalentTo"} xref: UMLS:CN118845 {source="MONDO:equivalentTo"} is_a: MONDO:0019117 {source="MONDO:0017122-obsoleted"} ! genetic nervous system disorder @@ -334082,7 +333923,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:D69.8 {source="ORDO:275736/attributed", source="ORDO:275736/ntbt", source="Orphanet:275736"} +consider: ICD10CM:D69.8 {source="Orphanet:275736/attributed", source="Orphanet:275736/ntbt", source="Orphanet:275736"} [Term] id: MONDO:0017143 @@ -334102,7 +333943,7 @@ id: MONDO:0017144 name: alpha-thalassemia and related diseases subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275745"} -xref: ICD10CM:D56.0 {source="ORDO:275745/attributed", source="ORDO:275745/ntbt", source="MONDO:superClassOf", source="Orphanet:275745"} +xref: ICD10CM:D56.0 {source="MONDO:superClassOf", source="Orphanet:275745/attributed", source="Orphanet:275745/ntbt", source="Orphanet:275745"} xref: Orphanet:275745 {source="MONDO:equivalentTo"} xref: UMLS:CN202570 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="Orphanet:275745", source="Orphanet:275745/inferred"} ! anemia @@ -334114,7 +333955,7 @@ id: MONDO:0017145 name: beta-thalassemia and related diseases subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275749"} -xref: ICD10CM:D56.1 {source="ORDO:275749/attributed", source="ORDO:275749/ntbt", source="Orphanet:275749"} +xref: ICD10CM:D56.1 {source="Orphanet:275749/attributed", source="Orphanet:275749/ntbt", source="Orphanet:275749"} xref: Orphanet:275749 {source="MONDO:equivalentTo"} xref: UMLS:CN202571 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="Orphanet:275749", source="Orphanet:275749/inferred"} ! anemia @@ -334126,11 +333967,11 @@ id: MONDO:0017146 name: sickle cell disease and related diseases subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275752"} -xref: ICD10CM:D57.0 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"} -xref: ICD10CM:D57.1 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"} -xref: ICD10CM:D57.2 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"} -xref: ICD10CM:D57.3 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"} -xref: ICD10CM:D57.8 {source="ORDO:275752/specific", source="ORDO:275752/btnt", source="Orphanet:275752"} +xref: ICD10CM:D57.0 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} +xref: ICD10CM:D57.1 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} +xref: ICD10CM:D57.2 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} +xref: ICD10CM:D57.3 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} +xref: ICD10CM:D57.8 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} xref: Orphanet:275752 {source="MONDO:equivalentTo"} xref: UMLS:CN202572 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="Orphanet:275752", source="Orphanet:275752/inferred"} ! anemia @@ -334144,13 +333985,13 @@ def: "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pu subset: ordo_etiological_subtype {source="Orphanet:275766"} synonym: "IPAH" EXACT ABBREVIATION [Orphanet:275766] synonym: "primary pulmonary arterial hypertension" EXACT [Orphanet:275766] -xref: ICD10CM:I27.0 {source="MONDO:subClassOf", source="ORDO:275766/attributed", source="ORDO:275766/ntbt", source="Orphanet:275766"} +xref: ICD10CM:I27.0 {source="MONDO:subClassOf", source="Orphanet:275766", source="Orphanet:275766/attributed", source="Orphanet:275766/ntbt"} xref: ICD9:416.0 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10065151 {source="Orphanet:275766", source="ORDO:275766/e"} +xref: MedDRA:10065151 {source="Orphanet:275766", source="Orphanet:275766/e"} xref: Orphanet:275766 {source="MONDO:equivalentTo"} xref: SCTID:697898008 {source="MONDO:equivalentTo"} xref: UMLS:C0152171 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:275766"} -xref: UMLS:C3203102 {source="MONDO:equivalentTo", source="Orphanet:275766", source="ORDO:275766/e"} +xref: UMLS:C3203102 {source="MONDO:equivalentTo", source="Orphanet:275766", source="Orphanet:275766/e"} xref: UMLS:CN202574 {source="MONDO:equivalentTo"} is_a: MONDO:0008347 {source="Orphanet:275766"} ! idiopathic and/or familial pulmonary arterial hypertension relationship: has_modifier MONDO:0700005 ! idiopathic @@ -334164,7 +334005,7 @@ synonym: "familial pulmonary arterial hypertension" EXACT [Orphanet:275777] synonym: "FPAH" EXACT ABBREVIATION [Orphanet:275777] synonym: "hereditary pulmonary arterial hypertension" EXACT [MONDO:patterns/hereditary, Orphanet:275777] synonym: "HpaH" EXACT [Orphanet:275777] -xref: ICD10CM:I27.0 {source="MONDO:subClassOf", source="ORDO:275777/attributed", source="ORDO:275777/ntbt", source="Orphanet:275777"} +xref: ICD10CM:I27.0 {source="MONDO:subClassOf", source="Orphanet:275777", source="Orphanet:275777/attributed", source="Orphanet:275777/ntbt"} xref: NCIT:C121945 {source="MONDO:equivalentTo"} xref: OMIMPS:178600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:275777 {source="MONDO:equivalentTo"} @@ -334185,9 +334026,9 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275786"} synonym: "drug- or toxin-induced PAH" EXACT [Orphanet:275786] xref: EFO:0009192 {source="MONDO:equivalentTo"} -xref: ICD10CM:I27.2 {source="ORDO:275786/ntbt", source="Orphanet:275786"} +xref: ICD10CM:I27.2 {source="Orphanet:275786", source="Orphanet:275786/ntbt"} xref: Orphanet:275786 {source="MONDO:equivalentTo"} -xref: UMLS:C0340544 {source="MONDO:equivalentTo", source="Orphanet:275786", source="ORDO:275786/e"} +xref: UMLS:C0340544 {source="MONDO:equivalentTo", source="Orphanet:275786", source="Orphanet:275786/e"} is_a: MONDO:0015924 {source="Orphanet:275786"} ! pulmonary arterial hypertension [Term] @@ -334199,7 +334040,7 @@ subset: ordo_group_of_disorders {source="Orphanet:275791"} synonym: "PAH associated with another disease" EXACT [Orphanet:275791] synonym: "secondary PAH" EXACT [Orphanet:275791] xref: EFO:0009193 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="Orphanet:275791", source="ORDO:275791/ntbt"} +xref: ICD10CM:I27.2 {source="Orphanet:275791", source="Orphanet:275791/ntbt"} xref: Orphanet:275791 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202577 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -334215,7 +334056,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:275798"} synonym: "PAH associated with connective tissue disease" EXACT [Orphanet:275798] xref: EFO:0009196 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="ORDO:275798/ntbt", source="Orphanet:275798"} +xref: ICD10CM:I27.2 {source="Orphanet:275798", source="Orphanet:275798/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:275798 {source="MONDO:obsoleteEquivalent"} xref: SCTID:697903007 {source="MONDO:obsoleteEquivalent"} @@ -334234,7 +334075,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:275803"} synonym: "PAH associated with congenital heart disease" EXACT [Orphanet:275803] xref: EFO:0009054 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="Orphanet:275803", source="ORDO:275803/ntbt"} +xref: ICD10CM:I27.2 {source="Orphanet:275803/ntbt", source="Orphanet:275803"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:275803 {source="MONDO:obsoleteEquivalent"} xref: SCTID:697905000 {source="MONDO:obsoleteEquivalent"} @@ -334253,7 +334094,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:275808"} synonym: "PAH associated with HIV infaction" EXACT [Orphanet:275808] xref: EFO:0009194 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="Orphanet:275808", source="ORDO:275808/ntbt"} +xref: ICD10CM:I27.2 {source="Orphanet:275808/ntbt", source="Orphanet:275808"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:275808 {source="MONDO:obsoleteEquivalent"} xref: SCTID:697904001 {source="MONDO:obsoleteEquivalent"} @@ -334273,7 +334114,7 @@ synonym: "PAH associated with portal hypertension" EXACT [Orphanet:275813] synonym: "POPH" EXACT ABBREVIATION [Orphanet:275813] synonym: "Portopulmonary hypertension" EXACT [Orphanet:275813] xref: EFO:0009197 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="ORDO:275813/ntbt", source="Orphanet:275813"} +xref: ICD10CM:I27.2 {source="Orphanet:275813/ntbt", source="Orphanet:275813"} xref: Orphanet:275813 {source="MONDO:obsoleteEquivalent"} xref: SCTID:445237003 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1868851 {source="MONDO:obsoleteEquivalent", source="Orphanet:275813"} @@ -334290,7 +334131,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:275823"} synonym: "PAH associated with schistosomiasis" EXACT [Orphanet:275823] xref: EFO:0009198 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="ORDO:275823/ntbt", source="Orphanet:275823"} +xref: ICD10CM:I27.2 {source="Orphanet:275823", source="Orphanet:275823/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:275823 {source="MONDO:obsoleteEquivalent"} xref: SCTID:697907008 {source="MONDO:obsoleteEquivalent"} @@ -334308,7 +334149,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:275828"} synonym: "PAH associated with chronic hemolytic anemia" EXACT [Orphanet:275828] xref: EFO:0009195 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:I27.2 {source="Orphanet:275828", source="ORDO:275828/ntbt"} +xref: ICD10CM:I27.2 {source="Orphanet:275828", source="Orphanet:275828/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:275828 {source="MONDO:obsoleteEquivalent"} xref: SCTID:697908003 {source="MONDO:obsoleteEquivalent"} @@ -334326,7 +334167,7 @@ subset: ordo_group_of_disorders {source="Orphanet:275837"} synonym: "PH due to lung disease and/or hypoxia" EXACT [Orphanet:275837] synonym: "PH owing to lung disease and/or hypoxia" EXACT [Orphanet:275837] synonym: "pulmonary hypertension due to lung disease and/or hypoxia" EXACT [Orphanet:275837] -xref: ICD10CM:I27.2 {source="ORDO:275837/ntbt", source="Orphanet:275837"} +xref: ICD10CM:I27.2 {source="Orphanet:275837/ntbt", source="Orphanet:275837"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:275837 {source="MONDO:equivalentTo"} xref: SCTID:697910001 {source="MONDO:equivalentTo"} @@ -334366,10 +334207,10 @@ name: behavioral variant of frontotemporal dementia def: "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." [Orphanet:275864] subset: ordo_disease {source="Orphanet:275864"} synonym: "bv-FTD" EXACT [Orphanet:275864] -xref: ICD10CM:G31.0 {source="ORDO:275864/attributed", source="ORDO:275864/ntbt", source="Orphanet:275864"} +xref: ICD10CM:G31.0 {source="Orphanet:275864", source="Orphanet:275864/attributed", source="Orphanet:275864/ntbt"} xref: OMIM:600274 {source="MONDO:superClassOf", source="Orphanet:275864"} -xref: OMIM:600795 {source="ORDO:275864/btnt", source="MONDO:superClassOf", source="Orphanet:275864"} -xref: OMIM:616437 {source="ORDO:275864/btnt", source="MONDO:superClassOf", source="Orphanet:275864"} +xref: OMIM:600795 {source="MONDO:superClassOf", source="Orphanet:275864", source="Orphanet:275864/btnt"} +xref: OMIM:616437 {source="MONDO:superClassOf", source="Orphanet:275864", source="Orphanet:275864/btnt"} xref: Orphanet:275864 {source="MONDO:equivalentTo"} xref: SCTID:716994006 {source="MONDO:equivalentTo"} xref: UMLS:C4011788 {source="MONDO:equivalentTo"} @@ -334388,13 +334229,13 @@ synonym: "frontotemporal dementia with amyotrophic lateral sclerosis" EXACT [Orp synonym: "FTD-ALS" EXACT [Orphanet:275872] synonym: "FTD-MND" EXACT [Orphanet:275872] synonym: "FTDALS" EXACT ABBREVIATION [MONDO:0000712] -xref: OMIM:105550 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} -xref: OMIM:608030 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} -xref: OMIM:612069 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} -xref: OMIM:613954 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} -xref: OMIM:615911 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} -xref: OMIM:616437 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} -xref: OMIM:616439 {source="Orphanet:275872", source="ORDO:275872/btnt", source="MONDO:superClassOf"} +xref: OMIM:105550 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} +xref: OMIM:608030 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} +xref: OMIM:612069 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} +xref: OMIM:613954 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} +xref: OMIM:615911 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} +xref: OMIM:616437 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} +xref: OMIM:616439 {source="Orphanet:275872/btnt", source="Orphanet:275872", source="MONDO:superClassOf"} xref: OMIMPS:105550 {source="todo-check", source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="MONDO:equivalentTo"} xref: UMLS:C3888102 {source="Orphanet:275872", source="MONDO:superClassOf"} @@ -334427,10 +334268,10 @@ name: obsolete hemolytic disease due to fetomaternal alloimmunization comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:275938"} synonym: "hemolytic disease of the fetus and newborn" EXACT [Orphanet:275938] -xref: ICD10CM:P55.0 {source="Orphanet:275938", source="ORDO:275938/btnt"} -xref: ICD10CM:P55.1 {source="Orphanet:275938", source="ORDO:275938/btnt"} -xref: ICD10CM:P55.8 {source="Orphanet:275938", source="ORDO:275938/btnt"} -xref: ICD10CM:P55.9 {source="Orphanet:275938", source="ORDO:275938/btnt"} +xref: ICD10CM:P55.0 {source="Orphanet:275938", source="Orphanet:275938/btnt"} +xref: ICD10CM:P55.1 {source="Orphanet:275938", source="Orphanet:275938/btnt"} +xref: ICD10CM:P55.8 {source="Orphanet:275938", source="Orphanet:275938/btnt"} +xref: ICD10CM:P55.9 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: Orphanet:275938 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202585 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -334444,7 +334285,7 @@ name: hemolytic disease of the newborn with Kell alloimmunization subset: ordo_disease {source="Orphanet:275944"} synonym: "anti-K HDN" EXACT [Orphanet:275944] synonym: "maternal anti-Kell alloimmunization" EXACT [Orphanet:275944] -xref: ICD10CM:P55.8 {source="ORDO:275944/ntbt", source="Orphanet:275944"} +xref: ICD10CM:P55.8 {source="Orphanet:275944", source="Orphanet:275944/ntbt"} xref: Orphanet:275944 {source="MONDO:equivalentTo"} xref: UMLS:CN202586 {source="MONDO:equivalentTo"} is_a: MONDO:0003664 {source="Orphanet:275944"} ! hemolytic anemia @@ -334477,9 +334318,9 @@ id: MONDO:0017167 name: malignant epithelial tumor of salivary glands subset: ordo_disease {source="Orphanet:276145"} synonym: "malignant epithelial tumor of the salivary glands" RELATED [Orphanet:276145] -xref: ICD10CM:C07 {source="Orphanet:276145", source="ORDO:276145/btnt"} -xref: ICD10CM:C08.0 {source="Orphanet:276145", source="ORDO:276145/btnt"} -xref: ICD10CM:C08.1 {source="Orphanet:276145", source="ORDO:276145/btnt"} +xref: ICD10CM:C07 {source="Orphanet:276145", source="Orphanet:276145/btnt"} +xref: ICD10CM:C08.0 {source="Orphanet:276145", source="Orphanet:276145/btnt"} +xref: ICD10CM:C08.1 {source="Orphanet:276145", source="Orphanet:276145/btnt"} xref: Orphanet:276145 {source="MONDO:equivalentTo"} xref: UMLS:CN202591 {source="MONDO:equivalentTo"} is_a: MONDO:0005586 {source="MONDO:0017166-obsoleted"} ! head and neck neoplasm @@ -334489,9 +334330,9 @@ is_a: MONDO:0021223 {source="MONDO:0017166-obsoleted"} ! digestive system neopla id: MONDO:0017168 name: benign epithelial tumor of salivary glands subset: ordo_disease {source="Orphanet:276148"} -xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="ORDO:276148/btnt", source="Orphanet:276148"} -xref: ICD10CM:D11.7 {source="ORDO:276148/btnt", source="Orphanet:276148"} -xref: OMIM:181030 {source="MONDO:superClassOf", source="ORDO:276148/btnt", source="Orphanet:276148"} +xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:276148", source="Orphanet:276148/btnt"} +xref: ICD10CM:D11.7 {source="Orphanet:276148", source="Orphanet:276148/btnt"} +xref: OMIM:181030 {source="MONDO:superClassOf", source="Orphanet:276148", source="Orphanet:276148/btnt"} xref: Orphanet:276148 {source="MONDO:equivalentTo"} xref: UMLS:CN202592 {source="MONDO:equivalentTo"} is_a: MONDO:0005586 {source="MONDO:0017166-obsoleted"} ! head and neck neoplasm @@ -334510,15 +334351,15 @@ synonym: "multiple endocrine adenomatosis" EXACT [NCIT:C6432] synonym: "multiple endocrine neoplasia" EXACT [NCIT:C6432] synonym: "multiple endocrine neoplasia syndrome" EXACT [NCIT:C6432] synonym: "multiple endocrine neoplasia syndrome(s)" EXACT [NCIT:C6432] -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="ORDO:276161/inclusion", source="Orphanet:276161", source="ORDO:276161/ntbt"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:276161/ntbt", source="Orphanet:276161/inclusion", source="Orphanet:276161"} xref: ICD9:258.0 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:8360/1 {source="NCIT:C6432"} -xref: MedDRA:10061299 {source="Orphanet:276161", source="ORDO:276161/e"} +xref: MedDRA:10061299 {source="Orphanet:276161/e", source="Orphanet:276161"} xref: NCIT:C6432 {source="MONDO:equivalentTo"} xref: OMIMPS:131100 {source="MONDO:equivalentTo"} xref: Orphanet:276161 {source="MONDO:equivalentTo"} xref: SCTID:46724008 {source="MONDO:equivalentTo"} -xref: UMLS:C0027662 {source="NCIT:C6432", source="MONDO:equivalentTo", source="Orphanet:276161", source="ORDO:276161/e"} +xref: UMLS:C0027662 {source="Orphanet:276161/e", source="NCIT:C6432", source="MONDO:equivalentTo", source="Orphanet:276161"} is_a: MONDO:0015079 {source="Orphanet:276161"} ! multiple polyglandular tumor is_a: MONDO:0021058 {source="NCIT:C6432"} ! neoplastic syndrome is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy @@ -334545,7 +334386,7 @@ synonym: "arylsulfatase B deficiency, rapidly progressing" EXACT [Orphanet:27621 synonym: "MPS6, rapidly progressing" EXACT [Orphanet:276212] synonym: "MPSVI, rapidly progressing" EXACT [Orphanet:276212] synonym: "mucopolysaccharidosis type VI, rapidly progressing" EXACT [Orphanet:276212] -xref: ICD10CM:E76.2 {source="Orphanet:276212", source="ORDO:276212/attributed", source="ORDO:276212/ntbt"} +xref: ICD10CM:E76.2 {source="Orphanet:276212/attributed", source="Orphanet:276212/ntbt", source="Orphanet:276212"} xref: Orphanet:276212 {source="MONDO:equivalentTo"} xref: UMLS:CN202600 {source="MONDO:equivalentTo"} is_a: MONDO:0009661 {source="Orphanet:276212"} ! mucopolysaccharidosis type 6 @@ -334558,7 +334399,7 @@ synonym: "arylsulfatase B deficiency, slowly progressing" EXACT [Orphanet:276223 synonym: "MPS6, slowly progressing" EXACT [Orphanet:276223] synonym: "MPSVI, slowly progressing" EXACT [Orphanet:276223] synonym: "mucopolysaccharidosis type VI, slowly progressing" EXACT [Orphanet:276223] -xref: ICD10CM:E76.2 {source="Orphanet:276223", source="ORDO:276223/attributed", source="ORDO:276223/ntbt"} +xref: ICD10CM:E76.2 {source="Orphanet:276223/attributed", source="Orphanet:276223/ntbt", source="Orphanet:276223"} xref: Orphanet:276223 {source="MONDO:equivalentTo"} xref: UMLS:CN202601 {source="MONDO:equivalentTo"} is_a: MONDO:0009661 {source="Orphanet:276223"} ! mucopolysaccharidosis type 6 @@ -334571,10 +334412,10 @@ subset: ordo_disease {source="Orphanet:276234"} synonym: "isolated male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [Orphanet:276234] synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:276234", source="ORDO:276234/attributed", source="ORDO:276234/ntbt"} -xref: OMIM:606766 {source="Orphanet:276234", source="MONDO:superClassOf", source="ORDO:276234/btnt"} -xref: OMIM:612997 {source="Orphanet:276234", source="MONDO:superClassOf", source="ORDO:276234/btnt"} -xref: OMIM:614822 {source="Orphanet:276234", source="MONDO:superClassOf", source="ORDO:276234/btnt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:276234/attributed", source="Orphanet:276234/ntbt", source="Orphanet:276234"} +xref: OMIM:606766 {source="Orphanet:276234/btnt", source="Orphanet:276234", source="MONDO:superClassOf"} +xref: OMIM:612997 {source="Orphanet:276234/btnt", source="Orphanet:276234", source="MONDO:superClassOf"} +xref: OMIM:614822 {source="Orphanet:276234/btnt", source="Orphanet:276234", source="MONDO:superClassOf"} xref: Orphanet:276234 {source="MONDO:equivalentTo"} xref: UMLS:CN202602 {source="MONDO:equivalentTo"} is_a: MONDO:0005372 {source="MONDO:Redundant", source="Orphanet:276234"} ! male infertility @@ -334589,10 +334430,10 @@ subset: ordo_clinical_subtype {source="Orphanet:276238"} synonym: "azorean disease, type i" EXACT [] synonym: "SCA3, Joseph type" EXACT [Orphanet:276238] synonym: "spinocerebellar ataxia type 3, Joseph type" EXACT [Orphanet:276238] -xref: ICD10CM:G11.8 {source="ORDO:276238/attributed", source="ORDO:276238/ntbt", source="Orphanet:276238"} +xref: ICD10CM:G11.8 {source="Orphanet:276238", source="Orphanet:276238/attributed", source="Orphanet:276238/ntbt"} xref: Orphanet:276238 {source="MONDO:equivalentTo"} xref: SCTID:91953003 {source="MONDO:equivalentTo"} -xref: UMLS:C0751668 {source="ORDO:276238/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276238"} +xref: UMLS:C0751668 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276238", source="Orphanet:276238/e"} is_a: MONDO:0007182 {source="Orphanet:276238", source="linkedlifedata"} ! Machado-Joseph disease [Term] @@ -334603,10 +334444,10 @@ subset: ordo_clinical_subtype {source="Orphanet:276241"} synonym: "azorean disease, type ii" EXACT [] synonym: "SCA3, Thomas type" EXACT [Orphanet:276241] synonym: "spinocerebellar ataxia, Thomas type" EXACT [Orphanet:276241] -xref: ICD10CM:G11.8 {source="Orphanet:276241", source="ORDO:276241/attributed", source="ORDO:276241/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:276241", source="Orphanet:276241/attributed", source="Orphanet:276241/ntbt"} xref: Orphanet:276241 {source="MONDO:equivalentTo"} xref: SCTID:91954009 {source="MONDO:equivalentTo"} -xref: UMLS:C0751669 {source="Orphanet:276241", source="MONDO:notFoundInDiseaseSubset", source="ORDO:276241/e"} +xref: UMLS:C0751669 {source="Orphanet:276241", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276241/e"} is_a: MONDO:0007182 {source="Orphanet:276241", source="linkedlifedata"} ! Machado-Joseph disease [Term] @@ -334617,10 +334458,10 @@ subset: ordo_clinical_subtype {source="Orphanet:276244"} synonym: "azorean disease, type iii" EXACT [] synonym: "SCA3, Machado type" EXACT [Orphanet:276244] synonym: "spinocerebellar ataxia type 3, Machado type" EXACT [Orphanet:276244] -xref: ICD10CM:G11.8 {source="Orphanet:276244", source="ORDO:276244/attributed", source="ORDO:276244/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:276244", source="Orphanet:276244/attributed", source="Orphanet:276244/ntbt"} xref: Orphanet:276244 {source="MONDO:equivalentTo"} xref: SCTID:91955005 {source="MONDO:equivalentTo"} -xref: UMLS:C0751670 {source="Orphanet:276244", source="ORDO:276244/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751670 {source="Orphanet:276244", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276244/e"} is_a: MONDO:0007182 {source="Orphanet:276244", source="linkedlifedata"} ! Machado-Joseph disease [Term] @@ -334629,7 +334470,7 @@ name: hemihyperplasia-multiple lipomatosis syndrome def: "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." [Orphanet:276280] subset: ordo_malformation_syndrome {source="Orphanet:276280"} synonym: "HHML" EXACT ABBREVIATION [Orphanet:276280] -xref: ICD10CM:Q87.3 {source="ORDO:276280/attributed", source="ORDO:276280/ntbt", source="Orphanet:276280"} +xref: ICD10CM:Q87.3 {source="Orphanet:276280", source="Orphanet:276280/attributed", source="Orphanet:276280/ntbt"} xref: Orphanet:276280 {source="MONDO:equivalentTo"} xref: UMLS:CN202613 {source="MONDO:equivalentTo"} is_a: MONDO:0019716 {source="Orphanet:276280"} ! overgrowth syndrome @@ -334661,15 +334502,15 @@ xref: DOID:84 {source="MONDO:equivalentTo"} xref: GARD:0004133 {source="MONDO:equivalentObsolete", source="OMIM-shared"} xref: GARD:0012703 {source="MONDO:equivalentTo"} xref: HP:0010886 {source="MONDO:otherHierarchy"} -xref: ICD10CM:M93.2 {source="Orphanet:251262", source="Orphanet:2764", source="ORDO:2764/e", source="ORDO:251262/attributed", source="ORDO:251262/ntbt", source="DOID:84"} +xref: ICD10CM:M93.2 {source="Orphanet:251262/attributed", source="Orphanet:251262/ntbt", source="Orphanet:251262", source="Orphanet:2764", source="Orphanet:2764/e", source="DOID:84"} xref: ICD10CM:M93.9 {source="DOID:84"} xref: ICD9:732.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:84"} -xref: MedDRA:10031231 {source="Orphanet:2764", source="ORDO:2764/e"} +xref: MedDRA:10031231 {source="Orphanet:2764", source="Orphanet:2764/e"} xref: MESH:D010007 {source="DOID:84"} -xref: MESH:D010008 {source="Orphanet:2764", source="ORDO:2764/e", source="MONDO:equivalentTo", source="DOID:84"} +xref: MESH:D010008 {source="Orphanet:2764", source="MONDO:equivalentTo", source="Orphanet:2764/e", source="DOID:84"} xref: NCIT:C34877 {source="DOID:84"} xref: NCIT:C34878 {source="MONDO:equivalentTo", source="DOID:84"} -xref: OMIM:165800 {source="ORDO:251262/e", source="Orphanet:251262", source="MONDO:directSiblingOf", source="DOID:84"} +xref: OMIM:165800 {source="Orphanet:251262", source="Orphanet:251262/e", source="MONDO:directSiblingOf", source="DOID:84"} xref: Orphanet:251262 {source="MONDO:directSiblingOf", source="OMIM:165800"} xref: Orphanet:2764 {source="MONDO:equivalentTo"} xref: SCTID:156821002 {source="DOID:84"} @@ -334681,7 +334522,7 @@ xref: SCTID:268125000 {source="DOID:84"} xref: SCTID:70736000 {source="DOID:84"} xref: SCTID:82562007 {source="MONDO:equivalentTo", source="DOID:84"} xref: UMLS:C0029420 {source="MONDO:notFoundInDiseaseSubset", source="DOID:84"} -xref: UMLS:C0029421 {source="Orphanet:2764", source="NCBI:mim2gene_medline", source="ORDO:2764/e", source="MONDO:equivalentTo", source="DOID:84"} +xref: UMLS:C0029421 {source="Orphanet:2764", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2764/e", source="DOID:84"} xref: UMLS:C3665488 {source="Orphanet:251262", source="MONDO:notFoundInDiseaseSubset", source="OMIM:165800"} is_a: MONDO:0005380 {source="DOID:84", source="MONDO:Redundant", source="Orphanet:251262", source="Orphanet:2764", source="indirect"} ! osteonecrosis is_a: MONDO:0018239 {source="Orphanet:251262"} ! aggrecan-related bone disorder @@ -334695,7 +334536,7 @@ id: MONDO:0017179 name: limbic encephalitis with caspr2 antibodies def: "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia." [Orphanet:276402] subset: ordo_disease {source="Orphanet:276402"} -xref: ICD10CM:G13.1 {source="ORDO:276402/ntbt", source="Orphanet:276402"} +xref: ICD10CM:G13.1 {source="Orphanet:276402", source="Orphanet:276402/ntbt"} xref: Orphanet:276402 {source="MONDO:equivalentTo"} xref: SCTID:763793004 {source="MONDO:equivalentTo"} is_a: MONDO:0015594 {source="Orphanet:276402"} ! non-paraneoplastic limbic encephalitis @@ -334723,12 +334564,12 @@ synonym: "hypnic headache" EXACT [MONDO:ambiguous] synonym: "hypnic headache (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0010796 {source="MONDO:equivalentTo"} xref: HP:0012459 {source="MONDO:otherHierarchy"} -xref: ICD10CM:G44.8 {source="ORDO:276429/ntbt", source="Orphanet:276429"} +xref: ICD10CM:G44.8 {source="Orphanet:276429/ntbt", source="Orphanet:276429"} xref: ICD9:339.81 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D051270 {source="MONDO:equivalentTo"} xref: Orphanet:276429 {source="MONDO:equivalentTo"} xref: SCTID:122711000119109 {source="MONDO:equivalentTo"} -xref: UMLS:C0752150 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:276429/e", source="Orphanet:276429"} +xref: UMLS:C0752150 {source="Orphanet:276429/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276429"} is_a: MONDO:0021146 {source="Orphanet:276429"} ! headache disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020011"} ! rare property_value: IAO:0000589 "hypnic headache (disease)" xsd:string @@ -334748,10 +334589,10 @@ synonym: "hyperinsulinemia of infancy" EXACT [NCIT:C131425] synonym: "hyperinsulinemic hypoglycemia" EXACT [NCIT:C131425] synonym: "Neonatal hyperinsulinism" EXACT [NCIT:C131425] synonym: "Nesidioblastosis" EXACT [NCIT:C131425] -xref: ICD10CM:E16.1 {source="ORDO:276525/attributed", source="ORDO:276525/ntbt", source="Orphanet:276525"} +xref: ICD10CM:E16.1 {source="Orphanet:276525", source="Orphanet:276525/attributed", source="Orphanet:276525/ntbt"} xref: NCIT:C131425 {source="MONDO:equivalentTo"} xref: Orphanet:276525 {source="MONDO:equivalentTo"} -xref: UMLS:C2931834 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276525", source="ORDO:276525/e"} +xref: UMLS:C2931834 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276525", source="Orphanet:276525/e"} is_a: MONDO:0001933 {source="NCIT:C131425", source="indirect"} ! endocrine pancreas disorder is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:276525", source="indirect"} ! endocrine system disorder is_a: MONDO:0005803 {source="Orphanet:276525"} ! hyperinsulinemic hypoglycemia @@ -334765,7 +334606,7 @@ name: hyperinsulinism due to UCP2 deficiency def: "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." [Orphanet:276556] subset: ordo_disease {source="Orphanet:276556"} synonym: "hyperinsulinemic hypoglycemia due to UCP2 deficiency" EXACT [Orphanet:276556] -xref: ICD10CM:E16.1 {source="ORDO:276556/attributed", source="ORDO:276556/ntbt", source="Orphanet:276556"} +xref: ICD10CM:E16.1 {source="Orphanet:276556", source="Orphanet:276556/attributed", source="Orphanet:276556/ntbt"} xref: Orphanet:276556 {source="MONDO:equivalentTo"} xref: SCTID:721834007 {source="MONDO:equivalentTo"} xref: UMLS:C4303082 {source="MONDO:equivalentTo"} @@ -334777,8 +334618,8 @@ name: autosomal dominant hyperinsulinism due to SUR1 deficiency def: "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." [Orphanet:276575] subset: ordo_disease {source="Orphanet:276575"} synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:276575] -xref: ICD10CM:E16.1 {source="Orphanet:276575", source="ORDO:276575/attributed", source="ORDO:276575/ntbt"} -xref: OMIM:256450 {source="MONDO:subClassOf", source="Orphanet:276575", source="ORDO:276575/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:E16.1 {source="Orphanet:276575/attributed", source="Orphanet:276575/ntbt", source="Orphanet:276575"} +xref: OMIM:256450 {source="MONDO:subClassOf", source="Orphanet:276575/ntbt", source="Orphanet:276575", source="MONDO:directSiblingOf"} xref: Orphanet:276575 {source="MONDO:equivalentTo"} xref: SCTID:717046003 {source="MONDO:equivalentTo"} xref: UMLS:C4274080 {source="MONDO:equivalentTo"} @@ -334794,8 +334635,8 @@ def: "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of d subset: ordo_disease {source="Orphanet:276580"} synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:276580] synonym: "dominant KATP hyperinsulinism due to Kir6.2 deficiency" EXACT [Orphanet:276580] -xref: ICD10CM:E16.1 {source="ORDO:276580/attributed", source="ORDO:276580/ntbt", source="Orphanet:276580"} -xref: OMIM:601820 {source="MONDO:subClassOf", source="ORDO:276580/ntbt", source="Orphanet:276580"} +xref: ICD10CM:E16.1 {source="Orphanet:276580/attributed", source="Orphanet:276580/ntbt", source="Orphanet:276580"} +xref: OMIM:601820 {source="MONDO:subClassOf", source="Orphanet:276580/ntbt", source="Orphanet:276580"} xref: Orphanet:276580 {source="MONDO:equivalentTo"} xref: SCTID:717045004 {source="MONDO:equivalentTo"} xref: UMLS:C4274081 {source="MONDO:equivalentTo"} @@ -334811,7 +334652,7 @@ def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyp subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:276585"} synonym: "diazoxide-resistant hyperinsulinemic hypoglycemia" EXACT [Orphanet:276585] -xref: ICD10CM:E16.1 {source="Orphanet:276585", source="ORDO:276585/attributed", source="ORDO:276585/ntbt"} +xref: ICD10CM:E16.1 {source="Orphanet:276585", source="Orphanet:276585/attributed", source="Orphanet:276585/ntbt"} xref: Orphanet:276585 {source="MONDO:equivalentTo"} is_a: MONDO:0019010 {source="Orphanet:276585"} ! congenital isolated hyperinsulinism @@ -334820,8 +334661,8 @@ id: MONDO:0017187 name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency subset: ordo_disease {source="Orphanet:276598"} synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276598] -xref: ICD10CM:E16.1 {source="Orphanet:276598", source="ORDO:276598/attributed", source="ORDO:276598/ntbt"} -xref: OMIM:256450 {source="MONDO:subClassOf", source="Orphanet:276598", source="ORDO:276598/ntbt"} +xref: ICD10CM:E16.1 {source="Orphanet:276598/attributed", source="Orphanet:276598/ntbt", source="Orphanet:276598"} +xref: OMIM:256450 {source="MONDO:subClassOf", source="Orphanet:276598/ntbt", source="Orphanet:276598"} xref: Orphanet:276598 {source="MONDO:equivalentTo"} is_a: MONDO:0009734 ! hyperinsulinemic hypoglycemia, familial, 1 is_a: MONDO:0019265 {source="Orphanet:276598"} ! diazoxide-resistant focal hyperinsulinism @@ -334832,8 +334673,8 @@ id: MONDO:0017188 name: diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency subset: ordo_disease {source="Orphanet:276603"} synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276603] -xref: ICD10CM:E16.1 {source="ORDO:276603/attributed", source="ORDO:276603/ntbt", source="Orphanet:276603"} -xref: OMIM:601820 {source="MONDO:subClassOf", source="ORDO:276603/ntbt", source="Orphanet:276603"} +xref: ICD10CM:E16.1 {source="Orphanet:276603/attributed", source="Orphanet:276603/ntbt", source="Orphanet:276603"} +xref: OMIM:601820 {source="MONDO:subClassOf", source="Orphanet:276603/ntbt", source="Orphanet:276603"} xref: Orphanet:276603 {source="MONDO:equivalentTo"} is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2 is_a: MONDO:0019265 {source="Orphanet:276603"} ! diazoxide-resistant focal hyperinsulinism @@ -334845,7 +334686,7 @@ name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" [Orphanet:276608] subset: ordo_disease {source="Orphanet:276608"} synonym: "NI-PHH" EXACT [Orphanet:276608] -xref: ICD10CM:E16.1 {source="ORDO:276608/attributed", source="ORDO:276608/ntbt", source="Orphanet:276608"} +xref: ICD10CM:E16.1 {source="Orphanet:276608/attributed", source="Orphanet:276608/ntbt", source="Orphanet:276608"} xref: Orphanet:276608 {source="MONDO:equivalentTo"} xref: SCTID:717044000 {source="MONDO:equivalentTo"} xref: UMLS:C4274082 {source="MONDO:equivalentTo"} @@ -334857,8 +334698,8 @@ name: sporadic pheochromocytoma/secreting paraganglioma def: "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." [Orphanet:276621] subset: ordo_disease {source="Orphanet:276621"} xref: GARD:0007385 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C74.1 {source="ORDO:276621/ntbt", source="Orphanet:276621"} -xref: ICD10CM:D35.0 {source="ORDO:276621/ntbt", source="Orphanet:276621"} +xref: ICD10CM:C74.1 {source="Orphanet:276621", source="Orphanet:276621/ntbt"} +xref: ICD10CM:D35.0 {source="Orphanet:276621", source="Orphanet:276621/ntbt"} xref: Orphanet:276621 {source="MONDO:equivalentTo"} xref: UMLS:CN202630 {source="MONDO:equivalentTo"} is_a: MONDO:0000448 {source="MONDO:cjm"} ! paraganglioma @@ -334867,8 +334708,8 @@ is_a: MONDO:0000448 {source="MONDO:cjm"} ! paraganglioma id: MONDO:0017191 name: sporadic pheochromocytoma subset: ordo_clinical_subtype {source="Orphanet:276624"} -xref: ICD10CM:C74.1 {source="ORDO:276624/ntbt", source="Orphanet:276624"} -xref: ICD10CM:D35.0 {source="ORDO:276624/ntbt", source="Orphanet:276624"} +xref: ICD10CM:C74.1 {source="Orphanet:276624", source="Orphanet:276624/ntbt"} +xref: ICD10CM:D35.0 {source="Orphanet:276624", source="Orphanet:276624/ntbt"} xref: Orphanet:276624 {source="MONDO:equivalentTo"} xref: UMLS:CN202631 {source="MONDO:equivalentTo"} is_a: MONDO:0017190 {source="Orphanet:276624"} ! sporadic pheochromocytoma/secreting paraganglioma @@ -334877,8 +334718,8 @@ is_a: MONDO:0017190 {source="Orphanet:276624"} ! sporadic pheochromocytoma/secre id: MONDO:0017192 name: sporadic secreting paraganglioma subset: ordo_clinical_subtype {source="Orphanet:276627"} -xref: ICD10CM:C75.5 {source="ORDO:276627/ntbt", source="Orphanet:276627"} -xref: ICD10CM:D44.7 {source="ORDO:276627/ntbt", source="Orphanet:276627"} +xref: ICD10CM:C75.5 {source="Orphanet:276627/ntbt", source="Orphanet:276627"} +xref: ICD10CM:D44.7 {source="Orphanet:276627/ntbt", source="Orphanet:276627"} xref: Orphanet:276627 {source="MONDO:equivalentTo"} xref: UMLS:CN202632 {source="MONDO:equivalentTo"} is_a: MONDO:0017190 {source="Orphanet:276627"} ! sporadic pheochromocytoma/secreting paraganglioma @@ -334887,7 +334728,7 @@ is_a: MONDO:0017190 {source="Orphanet:276627"} ! sporadic pheochromocytoma/secre id: MONDO:0017193 name: symptomatic form of Coffin-Lowry syndrome in female carriers subset: ordo_malformation_syndrome {source="Orphanet:276630"} -xref: ICD10CM:Q87.0 {source="Orphanet:276630", source="ORDO:276630/attributed", source="ORDO:276630/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:276630/attributed", source="Orphanet:276630/ntbt", source="Orphanet:276630"} xref: Orphanet:276630 {source="MONDO:equivalentTo"} xref: UMLS:CN202633 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:276630", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -334913,16 +334754,16 @@ synonym: "tibia vara" RELATED [GARD:0000916] synonym: "tibia vara Blount" EXACT [Orphanet:2768] xref: DOID:14798 {source="MONDO:equivalentTo"} xref: GARD:0000916 {source="MONDO:equivalentTo"} -xref: ICD10CM:M92.5 {source="ORDO:2768/attributed", source="ORDO:2768/ntbt", source="Orphanet:2768"} +xref: ICD10CM:M92.5 {source="Orphanet:2768", source="Orphanet:2768/attributed", source="Orphanet:2768/ntbt"} xref: ICD9:736.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10072255 {source="Orphanet:2768", source="ORDO:2768/e"} -xref: MESH:C536237 {source="MONDO:equivalentTo", source="Orphanet:2768", source="ORDO:2768/e", source="DOID:14798"} +xref: MedDRA:10072255 {source="Orphanet:2768", source="Orphanet:2768/e"} +xref: MESH:C536237 {source="MONDO:equivalentTo", source="Orphanet:2768", source="Orphanet:2768/e", source="DOID:14798"} xref: NCIT:C118460 {source="MONDO:equivalentTo"} -xref: OMIM:188700 {source="ORDO:2768/btnt", source="MONDO:superClassOf", source="Orphanet:2768", source="DOID:14798"} -xref: OMIM:259200 {source="ORDO:2768/btnt", source="MONDO:superClassOf", source="Orphanet:2768", source="DOID:14798"} +xref: OMIM:188700 {source="MONDO:superClassOf", source="Orphanet:2768", source="Orphanet:2768/btnt", source="DOID:14798"} +xref: OMIM:259200 {source="MONDO:superClassOf", source="Orphanet:2768", source="Orphanet:2768/btnt", source="DOID:14798"} xref: Orphanet:2768 {source="MONDO:equivalentTo"} xref: SCTID:79353000 {source="MONDO:equivalentTo"} -xref: UMLS:C0175756 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2768", source="ORDO:2768/e"} +xref: UMLS:C0175756 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2768", source="Orphanet:2768/e"} xref: UMLS:C0220757 {source="MONDO:notFoundInDiseaseSubset", source="DOID:14798", source="NCIT:C118460"} is_a: MONDO:0005516 {source="DOID:14798"} ! osteochondrodysplasia is_a: MONDO:0019698 {source="Orphanet:2768"} ! bent bone dysplasia @@ -334936,14 +334777,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2771"} synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [DOID:0060231] synonym: "osteogenesis imperfecta-congenital joint contractures syndrome" EXACT [Orphanet:2771] xref: DOID:0060231 {source="MONDO:equivalentTo"} -xref: ICD10CM:M21.8 {source="DOID:0060231", source="Orphanet:2771", source="ORDO:2771/ntbt", source="ORDO:2771/index"} +xref: ICD10CM:M21.8 {source="DOID:0060231", source="Orphanet:2771", source="Orphanet:2771/index", source="Orphanet:2771/ntbt"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063718 {source="Orphanet:2771", source="ORDO:2771/e"} -xref: OMIM:259450 {source="DOID:0060231", source="Orphanet:2771", source="ORDO:2771/e", source="MONDO:superClassOf"} -xref: OMIM:609220 {source="DOID:0060231", source="Orphanet:2771", source="MONDO:superClassOf", source="ORDO:2771/btnt"} +xref: MedDRA:10063718 {source="Orphanet:2771", source="Orphanet:2771/e"} +xref: OMIM:259450 {source="DOID:0060231", source="Orphanet:2771", source="Orphanet:2771/e", source="MONDO:superClassOf"} +xref: OMIM:609220 {source="DOID:0060231", source="Orphanet:2771", source="Orphanet:2771/btnt", source="MONDO:superClassOf"} xref: Orphanet:2771 {source="DOID:0060231", source="MONDO:equivalentTo"} xref: SCTID:254113006 {source="MONDO:equivalentTo"} -xref: UMLS:C0432253 {source="Orphanet:2771", source="ORDO:2771/e", source="MONDO:equivalentTo"} +xref: UMLS:C0432253 {source="Orphanet:2771", source="MONDO:equivalentTo", source="Orphanet:2771/e"} xref: UMLS:C1836602 {source="Orphanet:2771", source="MONDO:superClassOf"} xref: UMLS:C1850168 {source="Orphanet:2771", source="MONDO:superClassOf"} is_a: MONDO:0000001 {source="MONDO:0015669-obsoleted"} ! disease or disorder @@ -334962,7 +334803,7 @@ synonym: "Al Gazali Sabrinathan Nair syndrome" RELATED [GARD:0000587] synonym: "Al Gazali-Nair syndrome" EXACT [GARD:0000587, Orphanet:2773] synonym: "osteogenesis imperfecta retinopathy seizures intellectual deficit" RELATED [GARD:0000587] xref: GARD:0000587 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:2773", source="ORDO:2773/attributed", source="ORDO:2773/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:2773", source="Orphanet:2773/attributed", source="Orphanet:2773/ntbt"} xref: MESH:C535617 {source="MONDO:equivalentTo"} xref: Orphanet:2773 {source="GARD:0000587", source="MONDO:equivalentTo"} xref: SCTID:722110003 {source="MONDO:equivalentTo"} @@ -334986,11 +334827,11 @@ synonym: "osteopathia striata with pigmentary dermopathy including white foreloc synonym: "Whyte Murphy syndrome" RELATED [GARD:0005562] synonym: "Whyte-Murphy syndrome" EXACT [Orphanet:2779] xref: GARD:0005562 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.8 {source="ORDO:2779/attributed", source="ORDO:2779/ntbt", source="Orphanet:2779"} +xref: ICD10CM:Q77.8 {source="Orphanet:2779", source="Orphanet:2779/attributed", source="Orphanet:2779/ntbt"} xref: MESH:C536054 {source="MONDO:equivalentTo"} -xref: OMIM:311280 {source="Orphanet:2779", source="ORDO:2779/e", source="MONDO:obsolete"} +xref: OMIM:311280 {source="Orphanet:2779", source="MONDO:obsolete", source="Orphanet:2779/e"} xref: Orphanet:2779 {source="MONDO:equivalentTo"} -xref: UMLS:C2931096 {source="MONDO:equivalentTo", source="Orphanet:2779", source="ORDO:2779/e"} +xref: UMLS:C2931096 {source="MONDO:equivalentTo", source="Orphanet:2779", source="Orphanet:2779/e"} is_a: MONDO:0003847 {source="OMIM:311280"} ! Mendelian disease is_a: MONDO:0019289 {source="Orphanet:2779"} ! hyperpigmentation of the skin relationship: disease_has_feature HP:0011001 {source="Orphanet:2779"} ! Increased bone mineral density @@ -335015,10 +334856,10 @@ synonym: "osteosclerosis fragilis" RELATED [GARD:0004155] xref: DOID:13533 {source="MONDO:equivalentTo"} xref: GARD:0004155 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011002 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q78.2 {source="Orphanet:2781", source="ORDO:2781/specific", source="ORDO:2781/e", source="DOID:13533"} +xref: ICD10CM:Q78.2 {source="Orphanet:2781", source="Orphanet:2781/e", source="Orphanet:2781/specific", source="DOID:13533"} xref: ICD9:756.52 {source="MONDO:equivalentTo", source="i2s", source="DOID:13533"} -xref: MedDRA:10031280 {source="Orphanet:2781", source="ORDO:2781/e"} -xref: MESH:D010022 {source="Orphanet:2781", source="ORDO:2781/e", source="DOID:13533"} +xref: MedDRA:10031280 {source="Orphanet:2781", source="Orphanet:2781/e"} +xref: MESH:D010022 {source="Orphanet:2781", source="Orphanet:2781/e", source="DOID:13533"} xref: NCIT:C26840 {source="MONDO:equivalentTo", source="DOID:13533"} xref: OMIMPS:259700 {source="DOID:13533"} xref: Orphanet:2781 {source="MONDO:equivalentTo"} @@ -335075,11 +334916,11 @@ subset: ordo_clinical_syndrome {source="Orphanet:279882"} synonym: "Spasmus nutans" EXACT [MONDO:ambiguous] synonym: "Spasmus nutans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0010533 {source="MONDO:otherHierarchy"} -xref: ICD10CM:F98.4 {source="Orphanet:279882", source="ORDO:279882/ntbt"} -xref: MedDRA:10059593 {source="Orphanet:279882", source="ORDO:279882/e"} +xref: ICD10CM:F98.4 {source="Orphanet:279882", source="Orphanet:279882/ntbt"} +xref: MedDRA:10059593 {source="Orphanet:279882", source="Orphanet:279882/e"} xref: Orphanet:279882 {source="MONDO:equivalentTo"} xref: SCTID:400948003 {source="MONDO:equivalentTo"} -xref: UMLS:C1527306 {source="Orphanet:279882", source="MONDO:equivalentTo", source="ORDO:279882/e"} +xref: UMLS:C1527306 {source="Orphanet:279882", source="MONDO:equivalentTo", source="Orphanet:279882/e"} is_a: MONDO:0005328 ! eye disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: IAO:0000589 "Spasmus nutans (disease)" xsd:string @@ -335091,14 +334932,14 @@ def: "Acute form of endophthalmitis." [MONDO:patterns/acute] subset: ordo_clinical_subtype {source="Orphanet:279888"} synonym: "endophthalmitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:11752 {source="MONDO:equivalentTo"} -xref: ICD10CM:H44.0 {source="MONDO:subClassOf", source="ORDO:279888/ntbt", source="Orphanet:279888"} -xref: ICD10CM:H44.1 {source="ORDO:279888/ntbt", source="Orphanet:279888"} +xref: ICD10CM:H44.0 {source="MONDO:subClassOf", source="Orphanet:279888", source="Orphanet:279888/ntbt"} +xref: ICD10CM:H44.1 {source="Orphanet:279888", source="Orphanet:279888/ntbt"} xref: ICD9:360.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:11752"} -xref: MedDRA:10000730 {source="ORDO:279888/e", source="Orphanet:279888"} +xref: MedDRA:10000730 {source="Orphanet:279888", source="Orphanet:279888/e"} xref: Orphanet:279888 {source="MONDO:equivalentTo"} xref: SCTID:1493002 {source="MONDO:equivalentTo", source="DOID:11752"} xref: SCTID:193268004 {source="DOID:11752"} -xref: UMLS:C0154773 {source="ORDO:279888/e", source="MONDO:equivalentTo", source="Orphanet:279888", source="DOID:11752"} +xref: UMLS:C0154773 {source="MONDO:equivalentTo", source="Orphanet:279888", source="Orphanet:279888/e", source="DOID:11752"} is_a: MONDO:0004863 {source="DOID:11752"} ! purulent endophthalmitis intersection_of: MONDO:0016047 ! endophthalmitis intersection_of: has_modifier PATO:0000389 ! acute @@ -335110,14 +334951,14 @@ def: "Chronic form of endophthalmitis." [MONDO:patterns/chronic] subset: ordo_clinical_subtype {source="Orphanet:279891"} synonym: "endophthalmitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10697 {source="MONDO:equivalentTo"} -xref: ICD10CM:H44.0 {source="MONDO:subClassOf", source="ORDO:279891/ntbt", source="Orphanet:279891"} -xref: ICD10CM:H44.1 {source="ORDO:279891/ntbt", source="Orphanet:279891"} +xref: ICD10CM:H44.0 {source="MONDO:subClassOf", source="Orphanet:279891/ntbt", source="Orphanet:279891"} +xref: ICD10CM:H44.1 {source="Orphanet:279891/ntbt", source="Orphanet:279891"} xref: ICD9:360.03 {source="DOID:10697", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10008864 {source="ORDO:279891/e", source="Orphanet:279891"} +xref: MedDRA:10008864 {source="Orphanet:279891/e", source="Orphanet:279891"} xref: Orphanet:279891 {source="MONDO:equivalentTo"} xref: SCTID:13978000 {source="DOID:10697", source="MONDO:equivalentTo"} xref: SCTID:193269007 {source="DOID:10697"} -xref: UMLS:C0154774 {source="DOID:10697", source="MONDO:equivalentTo", source="ORDO:279891/e", source="Orphanet:279891"} +xref: UMLS:C0154774 {source="DOID:10697", source="Orphanet:279891/e", source="MONDO:equivalentTo", source="Orphanet:279891"} is_a: MONDO:0004863 {source="DOID:10697"} ! purulent endophthalmitis intersection_of: MONDO:0016047 ! endophthalmitis intersection_of: has_modifier PATO:0001863 ! chronic @@ -335127,8 +334968,8 @@ id: MONDO:0017204 name: toxic maculopathy due to antimalarial drugs def: "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." [Orphanet:279894] subset: ordo_disease {source="Orphanet:279894"} -xref: ICD10CM:H35.3 {source="Orphanet:279894", source="MONDO:relatedTo", source="ORDO:279894/ntbt"} -xref: ICD10CM:T37.2 {source="Orphanet:279894", source="ORDO:279894/ntbt"} +xref: ICD10CM:H35.3 {source="Orphanet:279894", source="MONDO:relatedTo", source="Orphanet:279894/ntbt"} +xref: ICD10CM:T37.2 {source="Orphanet:279894", source="Orphanet:279894/ntbt"} xref: Orphanet:279894 {source="MONDO:equivalentTo"} xref: SCTID:763621004 {source="MONDO:equivalentTo"} xref: UMLS:CN202676 {source="MONDO:equivalentTo"} @@ -335166,7 +335007,7 @@ replaced_by: MONDO:0006806 id: MONDO:0017209 name: infectious posterior uveitis subset: ordo_disease {source="Orphanet:279919"} -xref: ICD10CM:H20.0 {source="ORDO:279919/ntbt", source="Orphanet:279919"} +xref: ICD10CM:H20.0 {source="Orphanet:279919/ntbt", source="Orphanet:279919"} xref: Orphanet:279919 {source="MONDO:equivalentTo"} is_a: MONDO:0001280 {source="MONDO:Redundant", source="Orphanet:279919"} ! choroiditis is_a: MONDO:0005550 {source="MONDO:Redundant", source="MONDO:cjm", source="indirect"} ! infectious disease @@ -335183,12 +335024,12 @@ synonym: "infectious secondary iridocyclitis" EXACT [DOID:9389] synonym: "secondary infected iridocyclitis" EXACT [DOID:9389] synonym: "secondary iridocyclitis, infectious" EXACT [DOID:9389, ICD9CM:364.03] xref: DOID:9389 {source="MONDO:equivalentTo"} -xref: ICD10CM:H20.0 {source="ORDO:279922/ntbt", source="Orphanet:279922"} +xref: ICD10CM:H20.0 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} xref: ICD10CM:H20.03 {source="DOID:9389"} -xref: ICD10CM:H20.1 {source="ORDO:279922/ntbt", source="Orphanet:279922"} -xref: ICD10CM:H20.2 {source="ORDO:279922/ntbt", source="Orphanet:279922"} -xref: ICD10CM:H20.8 {source="ORDO:279922/ntbt", source="Orphanet:279922"} -xref: ICD10CM:H20.9 {source="ORDO:279922/ntbt", source="Orphanet:279922"} +xref: ICD10CM:H20.1 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} +xref: ICD10CM:H20.2 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} +xref: ICD10CM:H20.8 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} +xref: ICD10CM:H20.9 {source="Orphanet:279922", source="Orphanet:279922/ntbt"} xref: ICD9:364.03 {source="DOID:9389"} xref: Orphanet:279922 {source="MONDO:equivalentTo"} xref: SCTID:193487008 {source="MONDO:equivalentTo", source="DOID:9389"} @@ -335203,7 +335044,7 @@ intersection_of: disease_has_inflammation_site UBERON:0011892 ! anterior uvea id: MONDO:0017211 name: infectious panuveitis subset: ordo_disease {source="Orphanet:279925"} -xref: ICD10CM:H44.1 {source="ORDO:279925/ntbt", source="Orphanet:279925"} +xref: ICD10CM:H44.1 {source="Orphanet:279925/ntbt", source="Orphanet:279925"} xref: Orphanet:279925 {source="MONDO:equivalentTo"} is_a: MONDO:0005550 {source="MONDO:Redundant", source="MONDO:cjm"} ! infectious disease is_a: MONDO:0017255 {source="Orphanet:279925"} ! panuveitis @@ -335244,10 +335085,10 @@ subset: ordo_disease {source="Orphanet:28"} synonym: "adenosylcobalamin deficiency" EXACT [Orphanet:28] synonym: "vitamin B12-responsive methylmalonic aciduria" EXACT [Orphanet:28] xref: GARD:0012623 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:28/ntbt", source="Orphanet:28", source="ORDO:28/inclusion"} -xref: OMIM:251100 {source="ORDO:28/btnt", source="MONDO:superClassOf", source="Orphanet:28"} -xref: OMIM:251110 {source="ORDO:28/btnt", source="MONDO:superClassOf", source="Orphanet:28"} -xref: OMIM:277410 {source="MONDO:relatedTo", source="ORDO:28/btnt", source="MONDO:superClassOf", source="Orphanet:28"} +xref: ICD10CM:E71.1 {source="Orphanet:28/inclusion", source="Orphanet:28", source="Orphanet:28/ntbt"} +xref: OMIM:251100 {source="MONDO:superClassOf", source="Orphanet:28", source="Orphanet:28/btnt"} +xref: OMIM:251110 {source="MONDO:superClassOf", source="Orphanet:28", source="Orphanet:28/btnt"} +xref: OMIM:277410 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:28", source="Orphanet:28/btnt"} xref: Orphanet:28 {source="MONDO:equivalentTo"} xref: SCTID:69614003 {source="MONDO:equivalentTo"} is_a: MONDO:0002012 ! methylmalonic acidemia @@ -335267,14 +335108,14 @@ subset: ordo_disease {source="Orphanet:280062"} synonym: "idiopathic calciphylaxis" RELATED [GARD:0005980] xref: DOID:4734 {source="MONDO:equivalentTo"} xref: GARD:0005980 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.5 {source="Orphanet:280062", source="ORDO:280062/ntbt"} +xref: ICD10CM:E83.5 {source="Orphanet:280062/ntbt", source="Orphanet:280062"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051714 {source="ORDO:280062/e", source="Orphanet:280062"} +xref: MedDRA:10051714 {source="Orphanet:280062", source="Orphanet:280062/e"} xref: MESH:D002115 {source="DOID:4734", source="MONDO:equivalentTo"} xref: NCIT:C84607 {source="DOID:4734", source="MONDO:equivalentTo"} xref: Orphanet:280062 {source="MONDO:equivalentTo"} xref: SCTID:237900002 {source="DOID:4734", source="MONDO:equivalentTo"} -xref: UMLS:C0006666 {source="ORDO:280062/e", source="Orphanet:280062", source="DOID:4734", source="MONDO:equivalentTo", source="NCIT:C84607"} +xref: UMLS:C0006666 {source="Orphanet:280062", source="DOID:4734", source="MONDO:equivalentTo", source="NCIT:C84607", source="Orphanet:280062/e"} is_a: MONDO:0002123 {source="DOID:4734", source="MESH:D002115"} ! calcinosis is_a: MONDO:0002254 {source="NCIT:C84607"} ! syndromic disease is_a: MONDO:0005385 {source="Orphanet:280062", source="Orphanet:280062/inferred"} ! vascular disorder @@ -335286,7 +335127,7 @@ id: MONDO:0017216 name: calciphylaxis cutis def: "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." [Orphanet:280065] subset: ordo_clinical_subtype {source="Orphanet:280065"} -xref: ICD10CM:E83.5 {source="ORDO:280065/ntbt", source="Orphanet:280065"} +xref: ICD10CM:E83.5 {source="Orphanet:280065", source="Orphanet:280065/ntbt"} xref: Orphanet:280065 {source="MONDO:equivalentTo"} xref: SCTID:717043006 {source="MONDO:equivalentTo"} xref: UMLS:C4274083 {source="MONDO:equivalentTo"} @@ -335298,7 +335139,7 @@ id: MONDO:0017217 name: visceral calciphylaxis def: "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." [Orphanet:280068] subset: ordo_clinical_subtype {source="Orphanet:280068"} -xref: ICD10CM:E83.5 {source="ORDO:280068/ntbt", source="Orphanet:280068"} +xref: ICD10CM:E83.5 {source="Orphanet:280068/ntbt", source="Orphanet:280068"} xref: Orphanet:280068 {source="MONDO:equivalentTo"} is_a: MONDO:0017215 {source="Orphanet:280068"} ! calciphylaxis @@ -335308,7 +335149,7 @@ name: septopreoptic holoprosencephaly def: "Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." [Orphanet:280195] subset: ordo_clinical_subtype {source="Orphanet:280195"} synonym: "Septopreoptic HPE" EXACT [Orphanet:280195] -xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:280195", source="ORDO:280195/attributed", source="ORDO:280195/ntbt"} +xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:280195/attributed", source="Orphanet:280195/ntbt", source="Orphanet:280195"} xref: OMIM:157170 {source="Orphanet:280195", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: OMIM:609637 {source="Orphanet:280195", source="MONDO:superClassOf"} xref: OMIM:610829 {source="Orphanet:280195", source="MONDO:superClassOf"} @@ -335328,8 +335169,8 @@ synonym: "HPE, minor form" EXACT [Orphanet:280200] synonym: "HPE-L" EXACT [Orphanet:280200] synonym: "Microform HPE" EXACT [Orphanet:280200] xref: DOID:0111380 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.2 {source="ORDO:280200/attributed", source="ORDO:280200/ntbt", source="Orphanet:280200", source="MONDO:directSiblingOf"} -xref: OMIM:147250 {source="ORDO:280200/btnt", source="MONDO:superClassOf", source="Orphanet:280200"} +xref: ICD10CM:Q04.2 {source="Orphanet:280200/attributed", source="Orphanet:280200/ntbt", source="Orphanet:280200", source="MONDO:directSiblingOf"} +xref: OMIM:147250 {source="MONDO:superClassOf", source="Orphanet:280200/btnt", source="Orphanet:280200"} xref: OMIM:157170 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:280200"} xref: OMIM:609637 {source="MONDO:superClassOf", source="Orphanet:280200"} xref: OMIM:610829 {source="MONDO:superClassOf", source="Orphanet:280200"} @@ -335345,7 +335186,7 @@ def: "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory t subset: ordo_clinical_subtype {source="Orphanet:280205"} synonym: "laryngo-tracheo-esophageal cleft type 0" EXACT [Orphanet:280205] synonym: "LTEC0" EXACT ABBREVIATION [Orphanet:280205] -xref: ICD10CM:Q32.1 {source="ORDO:280205/ntbt", source="Orphanet:280205"} +xref: ICD10CM:Q32.1 {source="Orphanet:280205/ntbt", source="Orphanet:280205"} xref: Orphanet:280205 {source="MONDO:equivalentTo"} xref: UMLS:CN202702 {source="MONDO:equivalentTo"} is_a: MONDO:0016060 {source="Orphanet:280205"} ! laryngotracheoesophageal cleft @@ -335358,7 +335199,7 @@ subset: ordo_clinical_subtype {source="Orphanet:280210"} synonym: "connatal PMD" EXACT [Orphanet:280210] synonym: "Pelizaeus-Merzbacher disease type II" EXACT [Orphanet:280210] synonym: "severe PMD" EXACT [Orphanet:280210] -xref: ICD10CM:E75.2 {source="ORDO:280210/attributed", source="ORDO:280210/ntbt", source="Orphanet:280210"} +xref: ICD10CM:E75.2 {source="Orphanet:280210", source="Orphanet:280210/attributed", source="Orphanet:280210/ntbt"} xref: Orphanet:280210 {source="MONDO:equivalentTo"} xref: UMLS:CN202703 {source="MONDO:equivalentTo"} is_a: MONDO:0010714 {source="Orphanet:280210"} ! Pelizaeus-Merzbacher disease @@ -335369,10 +335210,10 @@ name: Pelizaeus-Merzbacher disease, classic form def: "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." [Orphanet:280219] subset: ordo_clinical_subtype {source="Orphanet:280219"} synonym: "classic PMD" EXACT [Orphanet:280219] -xref: ICD10CM:E75.2 {source="Orphanet:280219", source="ORDO:280219/attributed", source="ORDO:280219/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:280219/attributed", source="Orphanet:280219/ntbt", source="Orphanet:280219"} xref: Orphanet:280219 {source="MONDO:equivalentTo"} xref: SCTID:87607002 {source="MONDO:equivalentTo"} -xref: UMLS:C0751916 {source="ORDO:280219/e", source="Orphanet:280219", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751916 {source="Orphanet:280219", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280219/e"} is_a: MONDO:0010714 {source="Orphanet:280219", source="linkedlifedata"} ! Pelizaeus-Merzbacher disease [Term] @@ -335381,9 +335222,9 @@ name: Pelizaeus-Merzbacher disease, transitional form def: "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." [Orphanet:280224] subset: ordo_clinical_subtype {source="Orphanet:280224"} synonym: "transitional PMD" EXACT [Orphanet:280224] -xref: ICD10CM:E75.2 {source="ORDO:280224/attributed", source="ORDO:280224/ntbt", source="Orphanet:280224"} +xref: ICD10CM:E75.2 {source="Orphanet:280224/attributed", source="Orphanet:280224/ntbt", source="Orphanet:280224"} xref: Orphanet:280224 {source="MONDO:equivalentTo"} -xref: UMLS:C0751917 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:280224/e", source="Orphanet:280224"} +xref: UMLS:C0751917 {source="Orphanet:280224/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280224"} is_a: MONDO:0010714 {source="Orphanet:280224"} ! Pelizaeus-Merzbacher disease [Term] @@ -335391,7 +335232,7 @@ id: MONDO:0017224 name: Pelizaeus-Merzbacher disease in female carriers def: "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." [Orphanet:280229] subset: ordo_clinical_subtype {source="Orphanet:280229"} -xref: ICD10CM:E75.2 {source="Orphanet:280229", source="ORDO:280229/attributed", source="ORDO:280229/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:280229", source="Orphanet:280229/attributed", source="Orphanet:280229/ntbt"} xref: Orphanet:280229 {source="MONDO:equivalentTo"} xref: UMLS:CN202706 {source="MONDO:equivalentTo"} is_a: MONDO:0010714 {source="Orphanet:280229"} ! Pelizaeus-Merzbacher disease @@ -335403,7 +335244,7 @@ def: "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectr subset: ordo_clinical_subtype {source="Orphanet:280234"} synonym: "Pelizaeus-Merzbacher disease, null syndrome" EXACT [Orphanet:280234] synonym: "PLP1 null syndrome" EXACT [Orphanet:280234] -xref: ICD10CM:E75.2 {source="ORDO:280234/attributed", source="ORDO:280234/ntbt", source="Orphanet:280234"} +xref: ICD10CM:E75.2 {source="Orphanet:280234", source="Orphanet:280234/attributed", source="Orphanet:280234/ntbt"} xref: Orphanet:280234 {source="MONDO:equivalentTo"} xref: UMLS:CN202707 {source="MONDO:equivalentTo"} is_a: MONDO:0010714 {source="Orphanet:280234"} ! Pelizaeus-Merzbacher disease @@ -335416,11 +335257,11 @@ subset: gard_rare {source="GARD:0012300"} subset: ordo_disease {source="Orphanet:280270"} synonym: "PMLD" EXACT ABBREVIATION [Orphanet:280270] xref: GARD:0012300 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:280270", source="ORDO:280270/attributed", source="ORDO:280270/ntbt"} -xref: OMIM:260600 {source="Orphanet:280270", source="MONDO:superClassOf", source="ORDO:280270/btnt"} -xref: OMIM:300523 {source="Orphanet:280270", source="MONDO:superClassOf", source="ORDO:280270/btnt"} -xref: OMIM:608804 {source="Orphanet:280270", source="MONDO:superClassOf", source="ORDO:280270/btnt"} -xref: OMIM:612233 {source="Orphanet:280270", source="MONDO:superClassOf", source="ORDO:280270/btnt"} +xref: ICD10CM:E75.2 {source="Orphanet:280270", source="Orphanet:280270/attributed", source="Orphanet:280270/ntbt"} +xref: OMIM:260600 {source="Orphanet:280270", source="Orphanet:280270/btnt", source="MONDO:superClassOf"} +xref: OMIM:300523 {source="Orphanet:280270", source="Orphanet:280270/btnt", source="MONDO:superClassOf"} +xref: OMIM:608804 {source="Orphanet:280270", source="Orphanet:280270/btnt", source="MONDO:superClassOf"} +xref: OMIM:612233 {source="Orphanet:280270", source="Orphanet:280270/btnt", source="MONDO:superClassOf"} xref: Orphanet:280270 {source="MONDO:equivalentTo"} xref: SCTID:717042001 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:280270", source="linkedlifedata"} ! leukodystrophy @@ -335436,7 +335277,7 @@ synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623] synonym: "IgG4-related pancreatitis" EXACT [Orphanet:280302] synonym: "lymphoplasmacytic sclerosing pancreatitis" EXACT [Orphanet:280302] xref: EFO:1000780 {source="MONDO:equivalentTo"} -xref: ICD10CM:K86.1 {source="Orphanet:280302", source="ORDO:280302/ntbt"} +xref: ICD10CM:K86.1 {source="Orphanet:280302/ntbt", source="Orphanet:280302"} xref: Orphanet:280302 {source="MONDO:equivalentTo"} xref: PMID:25985088 {source="EFO:1000780"} xref: SCTID:722872000 {source="MONDO:equivalentTo"} @@ -335454,7 +335295,7 @@ def: "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see t subset: ordo_clinical_subtype {source="Orphanet:280315"} synonym: "AIP type 2" EXACT [Orphanet:280315] synonym: "duct-centric pancreatitis" EXACT [Orphanet:280315] -xref: ICD10CM:K86.1 {source="ORDO:280315/ntbt", source="Orphanet:280315"} +xref: ICD10CM:K86.1 {source="Orphanet:280315/ntbt", source="Orphanet:280315"} xref: Orphanet:280315 {source="MONDO:equivalentTo"} xref: UMLS:CN202713 {source="MONDO:equivalentTo"} is_a: MONDO:0015175 {source="Orphanet:280315"} ! autoimmune pancreatitis @@ -335468,7 +335309,7 @@ synonym: "12p13.33 microdeletion syndrome" EXACT [Orphanet:280325] synonym: "Del(12)(p13.33)" EXACT [Orphanet:280325] synonym: "distal deletion 12p" EXACT [Orphanet:280325] synonym: "distal monosomy type 12p" EXACT [MONDORULE:4, Orphanet:280325] -xref: ICD10CM:Q93.5 {source="ORDO:280325/attributed", source="ORDO:280325/ntbt", source="Orphanet:280325"} +xref: ICD10CM:Q93.5 {source="Orphanet:280325/attributed", source="Orphanet:280325/ntbt", source="Orphanet:280325"} xref: Orphanet:280325 {source="MONDO:equivalentTo"} xref: UMLS:CN202714 {source="MONDO:equivalentTo"} is_a: MONDO:0022174 {source="Orphanet:280325"} ! chromosome 12p deletion @@ -335481,7 +335322,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3664 id: MONDO:0017230 name: autosomal semi-dominant severe lipodystrophic laminopathy subset: ordo_disease {source="Orphanet:280365"} -xref: ICD10CM:E88.1 {source="ORDO:280365/attributed", source="ORDO:280365/ntbt", source="Orphanet:280365"} +xref: ICD10CM:E88.1 {source="Orphanet:280365/attributed", source="Orphanet:280365/ntbt", source="Orphanet:280365"} xref: Orphanet:280365 {source="MONDO:equivalentTo"} xref: UMLS:CN202719 {source="MONDO:equivalentTo"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus @@ -335494,7 +335335,7 @@ name: erythropoietic uroporphyria associated with myeloid malignancy subset: gard_rare {source="GARD:0010948"} subset: ordo_disease {source="Orphanet:280379"} xref: GARD:0010948 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.2 {source="Orphanet:280379", source="ORDO:280379/attributed", source="ORDO:280379/ntbt"} +xref: ICD10CM:E80.2 {source="Orphanet:280379/attributed", source="Orphanet:280379/ntbt", source="Orphanet:280379"} xref: Orphanet:280379 {source="MONDO:equivalentTo"} is_a: MONDO:0019142 {source="Orphanet:280379"} ! inherited porphyria property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy xsd:anyURI {source="GARD:0010948"} @@ -335513,7 +335354,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare id: MONDO:0017233 name: familial Alzheimer-like prion disease subset: ordo_disease {source="Orphanet:280397"} -xref: ICD10CM:A81.8 {source="ORDO:280397/ntbt", source="Orphanet:280397"} +xref: ICD10CM:A81.8 {source="Orphanet:280397", source="Orphanet:280397/ntbt"} xref: Orphanet:280397 {source="MONDO:equivalentTo"} xref: SCTID:721219005 {source="MONDO:equivalentTo"} xref: UMLS:C4303482 {source="MONDO:equivalentTo"} @@ -335528,7 +335369,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280400"} synonym: "familial prion disease" EXACT [Orphanet:280400] synonym: "hereditary prion disease" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:A81.8 {source="ORDO:280400/attributed", source="ORDO:280400/ntbt", source="Orphanet:280400"} +xref: ICD10CM:A81.8 {source="Orphanet:280400/attributed", source="Orphanet:280400/ntbt", source="Orphanet:280400"} xref: Orphanet:280400 {source="MONDO:equivalentTo"} xref: UMLS:CN202725 {source="MONDO:equivalentTo"} is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:280400", source="Orphanet:280400/inferred"} ! genetic dementia @@ -335556,16 +335397,16 @@ subset: ordo_disease {source="Orphanet:280569"} synonym: "crescentic glomerulonephritis" EXACT [Orphanet:280569] synonym: "RPGN" EXACT ABBREVIATION [Orphanet:280569] xref: DOID:4776 {source="MONDO:equivalentTo"} -xref: ICD10CM:N01 {source="Orphanet:280569", source="DOID:4776", source="ORDO:280569/inclusion", source="ORDO:280569/ntbt"} +xref: ICD10CM:N01 {source="Orphanet:280569", source="DOID:4776", source="Orphanet:280569/ntbt", source="Orphanet:280569/inclusion"} xref: ICD9:580.4 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:582.4 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:583.4 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10018378 {source="Orphanet:280569", source="ORDO:280569/e"} +xref: MedDRA:10018378 {source="Orphanet:280569", source="Orphanet:280569/e"} xref: NCIT:C35264 {source="DOID:4776", source="MONDO:equivalentTo"} xref: Orphanet:280569 {source="MONDO:equivalentTo"} xref: SCTID:236392004 {source="DOID:4776", source="MONDO:equivalentTo"} xref: SCTID:45406000 {source="DOID:4776"} -xref: UMLS:C0221239 {source="Orphanet:280569", source="DOID:4776", source="NCIT:C35264", source="MONDO:equivalentTo", source="ORDO:280569/e"} +xref: UMLS:C0221239 {source="Orphanet:280569", source="DOID:4776", source="NCIT:C35264", source="MONDO:equivalentTo", source="Orphanet:280569/e"} xref: UMLS:C0403416 {source="Orphanet:280569", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002462 {source="DOID:4776", source="NCIT:C35264"} ! glomerulonephritis is_a: MONDO:0015163 {source="Orphanet:280569"} ! primary glomerular disease @@ -335576,8 +335417,8 @@ name: hereditary sensorimotor neuropathy with hyperelastic skin subset: gard_rare {source="GARD:0011010"} subset: ordo_disease {source="Orphanet:280598"} xref: GARD:0011010 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:280598/attributed", source="ORDO:280598/ntbt", source="Orphanet:280598"} -xref: OMIM:608895 {source="MONDO:subClassOf", source="ORDO:280598/ntbt", source="MONDO:relatedTo", source="Orphanet:280598"} +xref: ICD10CM:G60.0 {source="Orphanet:280598/attributed", source="Orphanet:280598/ntbt", source="Orphanet:280598"} +xref: OMIM:608895 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:280598/ntbt", source="Orphanet:280598"} xref: Orphanet:280598 {source="MONDO:equivalentTo"} xref: UMLS:CN202738 {source="MONDO:equivalentTo"} is_a: MONDO:0015359 {source="Orphanet:280598"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy @@ -335589,8 +335430,8 @@ id: MONDO:0017238 name: hemoglobinopathy Toms River subset: ordo_disease {source="Orphanet:280615"} synonym: "transient neonatal cyanosis and anemia due to Toms River Hemoglobin" EXACT [Orphanet:280615] -xref: ICD10CM:D58.2 {source="Orphanet:280615", source="ORDO:280615/attributed", source="ORDO:280615/ntbt"} -xref: OMIM:613977 {source="MONDO:subClassOf", source="Orphanet:280615", source="ORDO:280615/ntbt"} +xref: ICD10CM:D58.2 {source="Orphanet:280615/attributed", source="Orphanet:280615/ntbt", source="Orphanet:280615"} +xref: OMIM:613977 {source="MONDO:subClassOf", source="Orphanet:280615/ntbt", source="Orphanet:280615"} xref: Orphanet:280615 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:280615", source="Orphanet:280615/inferred"} ! anemia is_a: MONDO:0013511 {source="MONDO:cjm"} ! cyanosis, transient neonatal @@ -335604,8 +335445,8 @@ name: familial progressive hyper- and hypopigmentation def: "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." [Orphanet:280628] subset: ordo_disease {source="Orphanet:280628"} synonym: "FPHH" EXACT ABBREVIATION [Orphanet:280628] -xref: ICD10CM:L81.8 {source="Orphanet:280628", source="ORDO:280628/attributed", source="ORDO:280628/ntbt"} -xref: OMIM:145250 {source="MONDO:subClassOf", source="Orphanet:280628", source="ORDO:280628/ntbt"} +xref: ICD10CM:L81.8 {source="Orphanet:280628/attributed", source="Orphanet:280628/ntbt", source="Orphanet:280628"} +xref: OMIM:145250 {source="MONDO:subClassOf", source="Orphanet:280628/ntbt", source="Orphanet:280628"} xref: Orphanet:280628 {source="MONDO:equivalentTo"} xref: UMLS:C1840392 {source="MONDO:subClassOf", source="Orphanet:280628"} is_a: MONDO:0007771 ! hyperpigmentation with or without hypopigmentation, familial progressive @@ -335615,9 +335456,9 @@ property_value: confidence "1.6470588235294126" xsd:double id: MONDO:0017240 name: acrodysostosis with multiple hormone resistance subset: ordo_disease {source="Orphanet:280651"} -xref: ICD10CM:Q75.4 {source="ORDO:280651/attributed", source="ORDO:280651/ntbt", source="Orphanet:280651"} -xref: OMIM:101800 {source="ORDO:280651/btnt", source="MONDO:superClassOf", source="Orphanet:280651"} -xref: OMIM:614613 {source="ORDO:280651/btnt", source="MONDO:superClassOf", source="Orphanet:280651"} +xref: ICD10CM:Q75.4 {source="Orphanet:280651/attributed", source="Orphanet:280651/ntbt", source="Orphanet:280651"} +xref: OMIM:101800 {source="MONDO:superClassOf", source="Orphanet:280651/btnt", source="Orphanet:280651"} +xref: OMIM:614613 {source="MONDO:superClassOf", source="Orphanet:280651/btnt", source="Orphanet:280651"} xref: Orphanet:280651 {source="MONDO:equivalentTo"} xref: UMLS:CN202748 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:280651", source="Orphanet:280651/inferred"} ! endocrine system disorder @@ -335634,10 +335475,10 @@ subset: ordo_disease {source="Orphanet:280763"} synonym: "AP4 deficiency syndrome" EXACT [Orphanet:280763] synonym: "AP4 related intellectual disability and spastic paraplegia" EXACT [https://github.com/monarch-initiative/mondo/issues/1728] synonym: "severe intellectual disability and progressive spastic paraplegia" NARROW [Orphanet:280763] -xref: OMIM:612936 {source="ORDO:280763/btnt", source="MONDO:superClassOf", source="Orphanet:280763"} -xref: OMIM:613744 {source="ORDO:280763/btnt", source="MONDO:superClassOf", source="Orphanet:280763"} -xref: OMIM:614066 {source="ORDO:280763/btnt", source="MONDO:superClassOf", source="Orphanet:280763"} -xref: OMIM:614067 {source="ORDO:280763/btnt", source="MONDO:superClassOf", source="Orphanet:280763"} +xref: OMIM:612936 {source="MONDO:superClassOf", source="Orphanet:280763/btnt", source="Orphanet:280763"} +xref: OMIM:613744 {source="MONDO:superClassOf", source="Orphanet:280763/btnt", source="Orphanet:280763"} +xref: OMIM:614066 {source="MONDO:superClassOf", source="Orphanet:280763/btnt", source="Orphanet:280763"} +xref: OMIM:614067 {source="MONDO:superClassOf", source="Orphanet:280763/btnt", source="Orphanet:280763"} xref: Orphanet:280763 {source="MONDO:equivalentTo"} xref: UMLS:CN202757 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:280763"} ! syndromic intellectual disability @@ -335667,7 +335508,7 @@ name: bullous diffuse cutaneous mastocytosis def: "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." [Orphanet:280785] subset: ordo_clinical_subtype {source="Orphanet:280785"} synonym: "bullous DCM" EXACT [Orphanet:280785] -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:280785/ntbt", source="Orphanet:280785"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:280785/ntbt", source="Orphanet:280785"} xref: Orphanet:280785 {source="MONDO:equivalentTo"} is_a: MONDO:0019315 {source="Orphanet:280785"} ! diffuse cutaneous mastocytosis @@ -335679,7 +335520,7 @@ subset: ordo_clinical_subtype {source="Orphanet:280794"} synonym: "infiltrative small vesicular DCM" EXACT [Orphanet:280794] synonym: "infiltrative small vesicular diffuse cutaneous mastocytosis" EXACT [Orphanet:280794] synonym: "Pseudoxanthomatous DCM" EXACT [Orphanet:280794] -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:280794/ntbt", source="Orphanet:280794"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:280794/ntbt", source="Orphanet:280794"} xref: Orphanet:280794 {source="MONDO:equivalentTo"} is_a: MONDO:0019315 {source="Orphanet:280794"} ! diffuse cutaneous mastocytosis @@ -335689,7 +335530,7 @@ name: intralobar congenital pulmonary sequestration subset: ordo_clinical_subtype {source="Orphanet:280802"} synonym: "congenital intrapulmonary sequestration" EXACT [Orphanet:280802] synonym: "intralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280802] -xref: ICD10CM:Q33.2 {source="Orphanet:280802", source="ORDO:280802/ntbt"} +xref: ICD10CM:Q33.2 {source="Orphanet:280802/ntbt", source="Orphanet:280802"} xref: Orphanet:280802 {source="MONDO:equivalentTo"} is_a: MONDO:0017843 {source="Orphanet:280802"} ! congenital pulmonary sequestration @@ -335699,7 +335540,7 @@ name: extralobar congenital pulmonary sequestration subset: ordo_clinical_subtype {source="Orphanet:280811"} synonym: "congenital extrapulmonary sequestration" EXACT [Orphanet:280811] synonym: "extralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280811] -xref: ICD10CM:Q33.2 {source="Orphanet:280811", source="ORDO:280811/ntbt"} +xref: ICD10CM:Q33.2 {source="Orphanet:280811", source="Orphanet:280811/ntbt"} xref: Orphanet:280811 {source="MONDO:equivalentTo"} is_a: MONDO:0017843 {source="Orphanet:280811"} ! congenital pulmonary sequestration @@ -335707,7 +335548,7 @@ is_a: MONDO:0017843 {source="Orphanet:280811"} ! congenital pulmonary sequestrat id: MONDO:0017247 name: communicating congenital bronchopulmonary-foregut malformation subset: ordo_clinical_subtype {source="Orphanet:280821"} -xref: ICD10CM:Q33.2 {source="ORDO:280821/ntbt", source="Orphanet:280821"} +xref: ICD10CM:Q33.2 {source="Orphanet:280821/ntbt", source="Orphanet:280821"} xref: Orphanet:280821 {source="MONDO:equivalentTo"} is_a: MONDO:0017843 {source="Orphanet:280821"} ! congenital pulmonary sequestration @@ -335718,7 +335559,7 @@ subset: ordo_clinical_subtype {source="Orphanet:280827"} synonym: "congenital cystic adenomatoid malformation of the lung type 0" EXACT [Orphanet:280827] synonym: "congenital cystic adenomatous malformation of the lung type 0" EXACT [Orphanet:280827] synonym: "CPAM type 0" EXACT [Orphanet:280827] -xref: ICD10CM:Q33.0 {source="Orphanet:280827", source="ORDO:280827/ntbt"} +xref: ICD10CM:Q33.0 {source="Orphanet:280827/ntbt", source="Orphanet:280827"} xref: Orphanet:280827 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280827"} ! congenital pulmonary airway malformation @@ -335731,7 +335572,7 @@ synonym: "congenital cystic adenomatoid malformation of the lung type 1" EXACT [ synonym: "congenital cystic adenomatous malformation of the lung type 1" EXACT [Orphanet:280832] synonym: "congenital cystic disease of the lung type 1" EXACT [Orphanet:280832] synonym: "CPAM type 1" EXACT [Orphanet:280832] -xref: ICD10CM:Q33.0 {source="ORDO:280832/ntbt", source="Orphanet:280832"} +xref: ICD10CM:Q33.0 {source="Orphanet:280832/ntbt", source="Orphanet:280832"} xref: Orphanet:280832 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280832"} ! congenital pulmonary airway malformation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -335746,7 +335587,7 @@ synonym: "congenital cystic adenomatoid malformation of the lung type 2" EXACT [ synonym: "congenital cystic adenomatous malformation of the lung type 2" EXACT [Orphanet:280840] synonym: "congenital cystic disease of the lung type 2" EXACT [Orphanet:280840] synonym: "CPAM type 2" EXACT [Orphanet:280840] -xref: ICD10CM:Q33.0 {source="ORDO:280840/ntbt", source="Orphanet:280840"} +xref: ICD10CM:Q33.0 {source="Orphanet:280840/ntbt", source="Orphanet:280840"} xref: Orphanet:280840 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280840"} ! congenital pulmonary airway malformation @@ -335759,7 +335600,7 @@ synonym: "congenital cystic adenomatoid malformation of the lung type 3" EXACT [ synonym: "congenital cystic adenomatous malformation of the lung type 3" EXACT [Orphanet:280847] synonym: "congenital cystic disease of the lung type 3" EXACT [Orphanet:280847] synonym: "CPAM type 3" EXACT [Orphanet:280847] -xref: ICD10CM:Q33.0 {source="Orphanet:280847", source="ORDO:280847/ntbt"} +xref: ICD10CM:Q33.0 {source="Orphanet:280847", source="Orphanet:280847/ntbt"} xref: Orphanet:280847 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280847"} ! congenital pulmonary airway malformation @@ -335770,7 +335611,7 @@ subset: ordo_clinical_subtype {source="Orphanet:280854"} synonym: "congenital cystic adenomatoid malformation of the lung type 4" EXACT [Orphanet:280854] synonym: "congenital cystic adenomatous malformation of the lung type 4" EXACT [Orphanet:280854] synonym: "CPAM type 4" EXACT [Orphanet:280854] -xref: ICD10CM:Q33.0 {source="ORDO:280854/ntbt", source="Orphanet:280854"} +xref: ICD10CM:Q33.0 {source="Orphanet:280854/ntbt", source="Orphanet:280854"} xref: Orphanet:280854 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280854"} ! congenital pulmonary airway malformation @@ -335802,15 +335643,15 @@ xref: DOID:12030 {source="MONDO:equivalentTo", source="EFO:1001082"} xref: EFO:1001082 {source="MONDO:equivalentTo"} xref: GARD:0008577 {source="MONDO:equivalentTo"} xref: HP:0012121 {source="MONDO:otherHierarchy"} -xref: ICD10CM:H44.1 {source="ORDO:280898/ntbt", source="Orphanet:280898"} +xref: ICD10CM:H44.1 {source="Orphanet:280898/ntbt", source="Orphanet:280898"} xref: ICD10CM:H44.11 {source="DOID:12030"} xref: ICD9:360.12 {source="DOID:12030", source="MONDO:equivalentTo", source="i2s", source="MONDO:directSiblingOf"} -xref: MedDRA:10033687 {source="EFO:1001082", source="Orphanet:280898", source="ORDO:280898/e"} +xref: MedDRA:10033687 {source="Orphanet:280898/e", source="EFO:1001082", source="Orphanet:280898"} xref: MESH:D015864 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"} xref: NCIT:C84989 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"} xref: Orphanet:280898 {source="MONDO:equivalentTo"} xref: SCTID:75614007 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082", source="MONDO:directSiblingOf"} -xref: UMLS:C0030343 {source="NCIT:C84989", source="DOID:12030", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280898", source="ORDO:280898/e"} +xref: UMLS:C0030343 {source="Orphanet:280898/e", source="NCIT:C84989", source="DOID:12030", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280898"} is_a: MONDO:0020283 {source="DOID:12030", source="EFO:1001082", source="MESH:D015864", source="NCIT:C84989", source="Orphanet:280898", source="linkedlifedata"} ! uveitis property_value: IAO:0000589 "panuveitis (disease)" xsd:string @@ -335818,14 +335659,14 @@ property_value: IAO:0000589 "panuveitis (disease)" xsd:string id: MONDO:0017256 name: idiopathic anterior uveitis subset: ordo_disease {source="Orphanet:280914"} -xref: ICD10CM:H20.0 {source="Orphanet:280914", source="ORDO:280914/ntbt"} -xref: ICD10CM:H20.1 {source="Orphanet:280914", source="ORDO:280914/ntbt"} -xref: ICD10CM:H20.2 {source="Orphanet:280914", source="ORDO:280914/ntbt"} -xref: ICD10CM:H20.8 {source="Orphanet:280914", source="ORDO:280914/ntbt"} -xref: ICD10CM:H20.9 {source="Orphanet:280914", source="ORDO:280914/ntbt"} +xref: ICD10CM:H20.0 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} +xref: ICD10CM:H20.1 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} +xref: ICD10CM:H20.2 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} +xref: ICD10CM:H20.8 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} +xref: ICD10CM:H20.9 {source="Orphanet:280914/ntbt", source="Orphanet:280914"} xref: Orphanet:280914 {source="MONDO:equivalentTo"} xref: SCTID:231947004 {source="MONDO:equivalentTo"} -xref: UMLS:C0339315 {source="ORDO:280914/e", source="Orphanet:280914", source="MONDO:equivalentTo"} +xref: UMLS:C0339315 {source="Orphanet:280914", source="MONDO:equivalentTo", source="Orphanet:280914/e"} is_a: MONDO:0006651 {source="Orphanet:280914", source="linkedlifedata"} ! anterior uveitis intersection_of: MONDO:0006651 ! anterior uveitis intersection_of: has_modifier MONDO:0700005 ! idiopathic @@ -335835,7 +335676,7 @@ id: MONDO:0017257 name: idiopathic posterior uveitis def: "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." [Orphanet:280917] subset: ordo_disease {source="Orphanet:280917"} -xref: ICD10CM:H20.0 {source="ORDO:280917/ntbt", source="Orphanet:280917"} +xref: ICD10CM:H20.0 {source="Orphanet:280917", source="Orphanet:280917/ntbt"} xref: Orphanet:280917 {source="MONDO:equivalentTo"} is_a: MONDO:0019541 {source="Orphanet:280917"} ! non-infectious posterior uveitis relationship: has_modifier MONDO:0700005 ! idiopathic @@ -335845,7 +335686,7 @@ id: MONDO:0017258 name: idiopathic panuveitis def: "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." [Orphanet:280921] subset: ordo_disease {source="Orphanet:280921"} -xref: ICD10CM:H44.1 {source="Orphanet:280921", source="ORDO:280921/ntbt"} +xref: ICD10CM:H44.1 {source="Orphanet:280921", source="Orphanet:280921/ntbt"} xref: Orphanet:280921 {source="MONDO:equivalentTo"} xref: SCTID:766933000 {source="MONDO:equivalentTo"} is_a: MONDO:0017255 {source="Orphanet:280921"} ! panuveitis @@ -335927,8 +335768,8 @@ synonym: "syndrome associated with recessive X-linked ichthyosis" EXACT [MONDO:p synonym: "syndromic recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic] synonym: "syndromic RXLI" EXACT [Orphanet:281090] synonym: "syndromic X-linked ichthyosis" EXACT [Orphanet:281090] -xref: ICD10CM:Q80.1 {source="ORDO:281090/attributed", source="ORDO:281090/ntbt", source="Orphanet:281090"} -xref: OMIM:308100 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:281090/ntbt", source="Orphanet:281090"} +xref: ICD10CM:Q80.1 {source="Orphanet:281090/attributed", source="Orphanet:281090/ntbt", source="Orphanet:281090"} +xref: OMIM:308100 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:281090/ntbt", source="Orphanet:281090"} xref: Orphanet:281090 {source="MONDO:equivalentTo"} xref: SCTID:717041008 {source="MONDO:equivalentTo"} xref: UMLS:C4274085 {source="MONDO:equivalentTo"} @@ -335981,10 +335822,10 @@ synonym: "self-improving collodion baby" RELATED [Orphanet:281122] synonym: "self-improving congenital ichthyosis" EXACT [Orphanet:281122] synonym: "SHCB" EXACT ABBREVIATION [Orphanet:281122] synonym: "SICI" EXACT ABBREVIATION [Orphanet:281122] -xref: ICD10CM:Q80.2 {source="ORDO:281122/attributed", source="ORDO:281122/ntbt", source="Orphanet:281122"} -xref: OMIM:242100 {source="ORDO:281122/btnt", source="MONDO:superClassOf", source="Orphanet:281122"} -xref: OMIM:242300 {source="MONDO:subClassOf", source="ORDO:281122/ntbt", source="Orphanet:281122", source="MONDO:directSiblingOf"} -xref: OMIM:606545 {source="ORDO:281122/btnt", source="MONDO:superClassOf", source="Orphanet:281122"} +xref: ICD10CM:Q80.2 {source="Orphanet:281122", source="Orphanet:281122/attributed", source="Orphanet:281122/ntbt"} +xref: OMIM:242100 {source="MONDO:superClassOf", source="Orphanet:281122", source="Orphanet:281122/btnt"} +xref: OMIM:242300 {source="MONDO:subClassOf", source="Orphanet:281122", source="Orphanet:281122/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:606545 {source="MONDO:superClassOf", source="Orphanet:281122", source="Orphanet:281122/btnt"} xref: Orphanet:281122 {source="MONDO:equivalentTo"} xref: SCTID:718632004 {source="MONDO:equivalentTo"} xref: UMLS:C1855789 {source="MONDO:equivalentTo", source="Orphanet:281122"} @@ -335997,7 +335838,7 @@ name: acral self-healing collodion baby def: "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." [Orphanet:281127] subset: ordo_disease {source="Orphanet:281127"} synonym: "acral SHCB" EXACT [Orphanet:281127] -xref: ICD10CM:Q80.2 {source="Orphanet:281127", source="ORDO:281127/attributed", source="ORDO:281127/ntbt"} +xref: ICD10CM:Q80.2 {source="Orphanet:281127/attributed", source="Orphanet:281127/ntbt", source="Orphanet:281127"} xref: Orphanet:281127 {source="MONDO:equivalentTo"} xref: SCTID:718633009 {source="MONDO:equivalentTo"} is_a: MONDO:0017265 {source="Orphanet:281127"} ! autosomal recessive congenital ichthyosis @@ -336011,9 +335852,9 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:281210"} synonym: "inherited ichthyosis syndromic form, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked inherited ichthyosis syndromic form" EXACT [MONDO:design_pattern] -xref: MedDRA:10048063 {source="ORDO:281210/e", source="Orphanet:281210"} +xref: MedDRA:10048063 {source="Orphanet:281210", source="Orphanet:281210/e"} xref: Orphanet:281210 {source="MONDO:equivalentTo"} -xref: UMLS:C0079588 {source="MONDO:relatedTo", source="ORDO:281210/e", source="Orphanet:281210"} +xref: UMLS:C0079588 {source="MONDO:relatedTo", source="Orphanet:281210", source="Orphanet:281210/e"} is_a: MONDO:0017263 {source="MONDO:Redundant", source="Orphanet:281210"} ! inherited ichthyosis syndromic form intersection_of: MONDO:0017263 ! inherited ichthyosis syndromic form intersection_of: has_modifier HP:0001417 ! X-linked inheritance @@ -336107,18 +335948,18 @@ synonym: "pallidopontonigral degeneration" EXACT [DOID:9255] synonym: "Wilhemsen-Lynch disease" EXACT [DOID:9255] xref: DOID:9255 {source="MONDO:equivalentTo"} xref: GARD:0008436 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G31.0 {source="ORDO:282/attributed", source="ORDO:282/ntbt", source="Orphanet:282"} -xref: MedDRA:10068968 {source="ORDO:282/e", source="Orphanet:282"} +xref: ICD10CM:G31.0 {source="Orphanet:282", source="Orphanet:282/attributed", source="Orphanet:282/ntbt"} +xref: MedDRA:10068968 {source="Orphanet:282", source="Orphanet:282/e"} xref: MESH:C563003 {source="DOID:9255"} -xref: MESH:D057180 {source="ORDO:282/e", source="MONDO:equivalentTo", source="Orphanet:282"} +xref: MESH:D057180 {source="MONDO:equivalentTo", source="Orphanet:282", source="Orphanet:282/e"} xref: NCIT:C84719 {source="MONDO:equivalentTo"} -xref: OMIM:172700 {source="MONDO:superClassOf", source="ORDO:282/btnt", source="Orphanet:282"} -xref: OMIM:600274 {source="ORDO:282/e", source="MONDO:superClassOf", source="Orphanet:282", source="DOID:9255"} -xref: OMIM:600795 {source="MONDO:superClassOf", source="ORDO:282/btnt", source="Orphanet:282", source="DOID:9255"} -xref: OMIM:607485 {source="MONDO:superClassOf", source="ORDO:282/btnt", source="Orphanet:282"} +xref: OMIM:172700 {source="MONDO:superClassOf", source="Orphanet:282", source="Orphanet:282/btnt"} +xref: OMIM:600274 {source="MONDO:superClassOf", source="Orphanet:282", source="DOID:9255", source="Orphanet:282/e"} +xref: OMIM:600795 {source="MONDO:superClassOf", source="Orphanet:282", source="Orphanet:282/btnt", source="DOID:9255"} +xref: OMIM:607485 {source="MONDO:superClassOf", source="Orphanet:282", source="Orphanet:282/btnt"} xref: Orphanet:282 {source="MONDO:equivalentTo", source="DOID:9255"} xref: SCTID:42369001 {source="DOID:9255"} -xref: UMLS:C0338451 {source="ORDO:282/e", source="MONDO:equivalentTo", source="NCIT:C84719", source="Orphanet:282"} +xref: UMLS:C0338451 {source="MONDO:equivalentTo", source="NCIT:C84719", source="Orphanet:282", source="Orphanet:282/e"} xref: UMLS:C0520716 {source="MONDO:equivalentTo", source="DOID:9255"} is_a: MONDO:0001627 {source="DOID:9255", source="MESH:D057180/inferred", source="MONDO:Redundant", source="NCIT:C84719", source="indirect"} ! dementia is_a: MONDO:0005559 ! neurodegenerative disease @@ -336134,7 +335975,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:282124"} synonym: "partial deletion of chromosome type 12" EXACT [MONDORULE:2, Orphanet:282124] synonym: "partial monosomy of chromosome 12" EXACT [Orphanet:282124] -xref: ICD10CM:Q93.5 {source="ORDO:282124/attributed", source="ORDO:282124/ntbt", source="Orphanet:282124"} +xref: ICD10CM:Q93.5 {source="Orphanet:282124", source="Orphanet:282124/attributed", source="Orphanet:282124/ntbt"} xref: Orphanet:282124 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr12 ! chromosome 12 (Human) @@ -336156,7 +335997,7 @@ synonym: "autoimmune polyglandular syndrome" EXACT [Orphanet:282196] synonym: "autoimmune polyglandular syndrome(s)" EXACT [NCIT:C129726] synonym: "Lloyd's syndrome" EXACT [DOID:14040] xref: DOID:14040 {source="MONDO:equivalentTo"} -xref: ICD10CM:E31.0 {source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo", source="ORDO:282196/ntbt"} +xref: ICD10CM:E31.0 {source="Orphanet:282196/ntbt", source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D016884 {source="DOID:14040"} xref: NCIT:C129726 {source="MONDO:equivalentTo"} @@ -336166,7 +336007,7 @@ xref: SCTID:18947001 {source="DOID:14040"} xref: SCTID:190567009 {source="DOID:14040"} xref: SCTID:190568004 {source="DOID:14040"} xref: SCTID:41864002 {source="DOID:14040", source="MONDO:equivalentTo"} -xref: UMLS:C0085409 {source="ORDO:282196/e", source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo", source="NCIT:C84576"} +xref: UMLS:C0085409 {source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo", source="Orphanet:282196/e", source="NCIT:C84576"} xref: UMLS:C4316913 {source="MONDO:equivalentTo"} is_a: MONDO:0000569 {source="DOID:14040", source="MONDO:Redundant", source="linkedlifedata"} ! autoimmune disorder of endocrine system is_a: MONDO:0002254 {source="NCIT:C129726"} ! syndromic disease @@ -336183,17 +336024,17 @@ synonym: "early-onset Parkinson disease" EXACT [Orphanet:2828] synonym: "early-onset Parkinson's disease" RELATED [DOID:0060894] synonym: "YOPD" EXACT ABBREVIATION [Orphanet:2828] xref: DOID:0060894 {source="MONDO:equivalentTo"} -xref: ICD10CM:G20 {source="ORDO:2828/attributed", source="ORDO:2828/ntbt", source="Orphanet:2828"} -xref: OMIM:300557 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:600116 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:602404 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:605909 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:606324 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:606852 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:610297 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:613643 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} -xref: OMIM:615528 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", source="ORDO:2828/ntbt", source="Orphanet:2828"} -xref: OMIM:616840 {source="MONDO:superClassOf", source="ORDO:2828/btnt", source="Orphanet:2828"} +xref: ICD10CM:G20 {source="Orphanet:2828/attributed", source="Orphanet:2828/ntbt", source="Orphanet:2828"} +xref: OMIM:300557 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:600116 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:602404 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:605909 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:606324 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:606852 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:610297 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:613643 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} +xref: OMIM:615528 {source="MONDO:subClassOf", source="Orphanet:2828/ntbt", source="MONDO:directSiblingOf", source="Orphanet:2828"} +xref: OMIM:616840 {source="Orphanet:2828/btnt", source="MONDO:superClassOf", source="Orphanet:2828"} xref: Orphanet:2828 {source="MONDO:equivalentTo"} xref: Orphanet:391411 {source="MONDO:subClassOf", source="DOID:0060894", source="MONDO:directSiblingOf"} xref: SCTID:715345007 {source="MONDO:equivalentTo"} @@ -336215,7 +336056,7 @@ synonym: "Demodex disease or disorder" EXACT [] synonym: "Demodex infectious disease" EXACT [] synonym: "Demodicosis" EXACT [Orphanet:283] xref: GARD:0001802 {source="MONDO:equivalentTo"} -xref: ICD10CM:B88.0 {source="ORDO:283/ntbt", source="Orphanet:283"} +xref: ICD10CM:B88.0 {source="Orphanet:283", source="Orphanet:283/ntbt"} xref: Orphanet:283 {source="MONDO:equivalentTo"} xref: UMLS:C3854478 {source="MONDO:equivalentTo", source="Orphanet:283"} is_a: MONDO:0005135 {source="Orphanet:283"} ! parasitic infectious disease @@ -336251,17 +336092,17 @@ synonym: "multilocular hydatid" EXACT [DOID:12148] synonym: "small fox tapeworm" EXACT [DOID:12148] xref: DOID:12148 {source="MONDO:equivalentTo"} xref: GARD:0000207 {source="MONDO:equivalentTo"} -xref: ICD10CM:B67.5 {source="ORDO:284/btnt", source="Orphanet:284"} -xref: ICD10CM:B67.6 {source="ORDO:284/btnt", source="Orphanet:284", source="DOID:12148"} -xref: ICD10CM:B67.7 {source="ORDO:284/btnt", source="Orphanet:284", source="DOID:12148"} +xref: ICD10CM:B67.5 {source="Orphanet:284/btnt", source="Orphanet:284"} +xref: ICD10CM:B67.6 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"} +xref: ICD10CM:B67.7 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"} xref: ICD9:122.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:12148"} -xref: MedDRA:10053042 {source="ORDO:284/e", source="Orphanet:284"} -xref: MESH:C536591 {source="MONDO:equivalentTo", source="ORDO:284/e", source="Orphanet:284"} +xref: MedDRA:10053042 {source="Orphanet:284/e", source="Orphanet:284"} +xref: MESH:C536591 {source="Orphanet:284/e", source="MONDO:equivalentTo", source="Orphanet:284"} xref: Orphanet:284 {source="MONDO:equivalentTo"} xref: SCTID:21009004 {source="MONDO:equivalentTo", source="DOID:12148"} xref: SCTID:240816000 {source="DOID:12148"} xref: UMLS:C0152069 {source="MONDO:equivalentTo", source="DOID:12148"} -xref: UMLS:C0948954 {source="MONDO:equivalentObsolete", source="ORDO:284/e", source="Orphanet:284"} +xref: UMLS:C0948954 {source="Orphanet:284/e", source="MONDO:equivalentObsolete", source="Orphanet:284"} is_a: MONDO:0005135 {source="Orphanet:284"} ! parasitic infectious disease is_a: MONDO:0005738 {source="DOID:12148", source="MESH:C536591/inferred", source="MONDO:Redundant"} ! echinococcosis intersection_of: MONDO:0005550 ! infectious disease @@ -336276,7 +336117,7 @@ synonym: "10p12p11 microdeletion syndrome" EXACT [Orphanet:284169] synonym: "Del(10)(p11.21p12.31)" EXACT [Orphanet:284169] synonym: "deletion 10p11.21p12.31" EXACT [Orphanet:284169] synonym: "monosomy 10p11.21p12.31" EXACT [Orphanet:284169] -xref: OMIM:616708 {source="MONDO:subClassOf", source="ORDO:284169/ntbt", source="Orphanet:284169"} +xref: OMIM:616708 {source="MONDO:subClassOf", source="Orphanet:284169", source="Orphanet:284169/ntbt"} xref: Orphanet:284169 {source="MONDO:equivalentTo"} xref: UMLS:CN202845 {source="MONDO:equivalentTo"} is_a: MONDO:0014741 ! facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation @@ -336293,7 +336134,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:284180"} synonym: "dup(X)(p22)" EXACT [Orphanet:284180] synonym: "dup(X)(p22.13p22.2)" EXACT [Orphanet:284180] synonym: "Duplication Xp22" EXACT [Orphanet:284180] -xref: ICD10CM:Q99.8 {source="Orphanet:284180", source="ORDO:284180/attributed", source="ORDO:284180/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:284180/attributed", source="Orphanet:284180/ntbt", source="Orphanet:284180"} xref: Orphanet:284180 {source="MONDO:equivalentTo"} xref: UMLS:CN202846 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:284180", source="indirect"} ! syndromic intellectual disability @@ -336317,13 +336158,13 @@ synonym: "penoscrotal transposition (disease)" EXACT [https://orcid.org/0000-000 synonym: "Prepenile scrotum" RELATED [GARD:0004273] xref: GARD:0004273 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100600 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q55.8 {source="ORDO:2842/ntbt", source="Orphanet:2842"} -xref: MedDRA:10067287 {source="ORDO:2842/e", source="Orphanet:2842"} -xref: MESH:C536650 {source="ORDO:2842/e", source="MONDO:equivalentTo", source="Orphanet:2842"} +xref: ICD10CM:Q55.8 {source="Orphanet:2842", source="Orphanet:2842/ntbt"} +xref: MedDRA:10067287 {source="Orphanet:2842", source="Orphanet:2842/e"} +xref: MESH:C536650 {source="MONDO:equivalentTo", source="Orphanet:2842", source="Orphanet:2842/e"} xref: NCIT:C99010 {source="MONDO:equivalentTo"} xref: Orphanet:2842 {source="MONDO:equivalentTo"} xref: SCTID:312005008 {source="MONDO:equivalentTo"} -xref: UMLS:C1868854 {source="NCIT:C99010", source="ORDO:2842/e", source="MONDO:equivalentTo", source="Orphanet:2842"} +xref: UMLS:C1868854 {source="NCIT:C99010", source="MONDO:equivalentTo", source="Orphanet:2842", source="Orphanet:2842/e"} is_a: MONDO:0015933 {source="Orphanet:2842"} ! non-syndromic urogenital tract malformation of male property_value: IAO:0000589 "penoscrotal transposition (disease)" xsd:string @@ -336367,11 +336208,11 @@ synonym: "systemic IgG4-related plasmacytic syndrome" RELATED [GARD:0012521] synonym: "systemic IgG4-related sclerosing syndrome" RELATED [GARD:0012521] xref: DOID:0080356 {source="MONDO:equivalentTo"} xref: GARD:0012521 {source="DOID:0080356", source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MedDRA:10071569 {source="ORDO:284264/e", source="Orphanet:284264"} +xref: MedDRA:10071569 {source="Orphanet:284264", source="Orphanet:284264/e"} xref: NCIT:C95992 {source="MONDO:equivalentTo"} xref: Orphanet:284264 {source="DOID:0080356", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:596448 {source="MONDO:equivalentTo"} -xref: UMLS:C3203653 {source="ORDO:284264/e", source="Orphanet:284264", source="MONDO:equivalentTo"} +xref: UMLS:C3203653 {source="Orphanet:284264", source="MONDO:equivalentTo", source="Orphanet:284264/e"} xref: UMLS:C4087124 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C95992"} is_a: MONDO:0005046 {source="MONDO:Redundant", source="NCIT:C95992", source="indirect"} ! immune system disorder is_a: MONDO:0007179 {source="DOID:0080356"} ! autoimmune disease @@ -336394,7 +336235,7 @@ xref: EFO:0009068 {source="MONDO:equivalentTo"} xref: GARD:0010734 {source="MONDO:equivalentTo"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C123317 {source="MONDO:equivalentTo"} -xref: OMIM:601200 {source="MONDO:subClassOf", source="ORDO:284343/ntbt", source="Orphanet:284343", source="GARD:0010734"} +xref: OMIM:601200 {source="MONDO:subClassOf", source="Orphanet:284343", source="GARD:0010734", source="Orphanet:284343/ntbt"} xref: Orphanet:284343 {source="MONDO:equivalentTo"} xref: SCTID:702411003 {source="MONDO:equivalentTo"} xref: UMLS:C3839822 {source="MONDO:equivalentTo", source="NCIT:C123317"} @@ -336421,7 +336262,7 @@ def: "An instance of intrahepatic cholestasis that is caused by an inherited mod subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:284385"} synonym: "hereditary intrahepatic cholestasis" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:K83.1 {source="Orphanet:284385", source="ORDO:284385/attributed", source="ORDO:284385/ntbt"} +xref: ICD10CM:K83.1 {source="Orphanet:284385/attributed", source="Orphanet:284385/ntbt", source="Orphanet:284385"} xref: ICD9:576.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:284385 {source="MONDO:equivalentTo"} xref: SCTID:74162007 {source="MONDO:equivalentTo"} @@ -336440,7 +336281,7 @@ subset: gard_rare {source="GARD:0012768"} subset: ordo_clinical_syndrome {source="Orphanet:284388"} synonym: "RCVS" EXACT ABBREVIATION [Orphanet:284388] xref: GARD:0012768 {source="MONDO:equivalentTo"} -xref: ICD10CM:I67.8 {source="ORDO:284388/ntbt", source="Orphanet:284388"} +xref: ICD10CM:I67.8 {source="Orphanet:284388", source="Orphanet:284388/ntbt"} xref: ICD9:437.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:284388 {source="MONDO:equivalentTo"} xref: SCTID:700467001 {source="MONDO:equivalentTo"} @@ -336460,10 +336301,10 @@ synonym: "pulmonary adenocarcinoma of fetal type" EXACT [NCIT:C45509] synonym: "pulmonary endodermal tumor resembling fetal lung" EXACT [NCIT:C45509] synonym: "WDFA" EXACT ABBREVIATION [Orphanet:284395] synonym: "well-differentiated fetal lung adenocarcinoma" EXACT [NCIT:C45509] -xref: ICD10CM:C34.1 {source="Orphanet:284395", source="ORDO:284395/btnt"} -xref: ICD10CM:C34.2 {source="Orphanet:284395", source="ORDO:284395/btnt"} -xref: ICD10CM:C34.3 {source="Orphanet:284395", source="ORDO:284395/btnt"} -xref: ICD10CM:C34.8 {source="Orphanet:284395", source="ORDO:284395/btnt"} +xref: ICD10CM:C34.1 {source="Orphanet:284395", source="Orphanet:284395/btnt"} +xref: ICD10CM:C34.2 {source="Orphanet:284395", source="Orphanet:284395/btnt"} +xref: ICD10CM:C34.3 {source="Orphanet:284395", source="Orphanet:284395/btnt"} +xref: ICD10CM:C34.8 {source="Orphanet:284395", source="Orphanet:284395/btnt"} xref: ICDO:8333/3 {source="NCIT:C45509"} xref: NCIT:C45509 {source="MONDO:equivalentTo"} xref: Orphanet:284395 {source="MONDO:equivalentTo"} @@ -336484,7 +336325,7 @@ id: MONDO:0017294 name: glycerol kinase deficiency, infantile form def: "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." [Orphanet:284408] subset: ordo_clinical_subtype {source="Orphanet:284408"} -xref: ICD10CM:E74.8 {source="Orphanet:284408", source="ORDO:284408/attributed", source="ORDO:284408/ntbt"} +xref: ICD10CM:E74.8 {source="Orphanet:284408", source="Orphanet:284408/attributed", source="Orphanet:284408/ntbt"} xref: OMIM:307030 {source="MONDO:subClassOf", source="Orphanet:284408"} xref: Orphanet:284408 {source="MONDO:equivalentTo"} is_a: MONDO:0010613 {source="Orphanet:284408/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! inborn glycerol kinase deficiency @@ -336495,7 +336336,7 @@ id: MONDO:0017295 name: glycerol kinase deficiency, juvenile form def: "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." [Orphanet:284411] subset: ordo_clinical_subtype {source="Orphanet:284411"} -xref: ICD10CM:E74.8 {source="ORDO:284411/attributed", source="ORDO:284411/ntbt", source="Orphanet:284411"} +xref: ICD10CM:E74.8 {source="Orphanet:284411", source="Orphanet:284411/attributed", source="Orphanet:284411/ntbt"} xref: OMIM:307030 {source="MONDO:subClassOf", source="Orphanet:284411"} xref: Orphanet:284411 {source="MONDO:equivalentTo"} is_a: MONDO:0018459 {source="Orphanet:284411"} ! isolated glycerol kinase deficiency @@ -336506,7 +336347,7 @@ id: MONDO:0017296 name: glycerol kinase deficiency, adult form def: "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." [Orphanet:284414] subset: ordo_clinical_subtype {source="Orphanet:284414"} -xref: ICD10CM:E74.8 {source="ORDO:284414/attributed", source="ORDO:284414/ntbt", source="Orphanet:284414"} +xref: ICD10CM:E74.8 {source="Orphanet:284414", source="Orphanet:284414/attributed", source="Orphanet:284414/ntbt"} xref: OMIM:307030 {source="MONDO:subClassOf", source="Orphanet:284414"} xref: Orphanet:284414 {source="MONDO:equivalentTo"} is_a: MONDO:0018459 {source="Orphanet:284414"} ! isolated glycerol kinase deficiency @@ -336534,7 +336375,7 @@ xref: ICD9:362.10 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C538223 {source="MONDO:equivalentTo"} xref: Orphanet:284454 {source="MONDO:equivalentTo"} xref: SCTID:312929003 {source="MONDO:equivalentTo"} -xref: UMLS:C0730298 {source="MONDO:equivalentTo", source="Orphanet:284454", source="ORDO:284454/e"} +xref: UMLS:C0730298 {source="MONDO:equivalentTo", source="Orphanet:284454", source="Orphanet:284454/e"} is_a: MONDO:0005328 ! eye disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy xsd:anyURI {source="GARD:0008640"} @@ -336554,11 +336395,11 @@ name: congenital pericardium anomaly def: "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." [Orphanet:2846] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2846"} -xref: ICD10CM:Q24.8 {source="ORDO:2846/ntbt", source="Orphanet:2846"} +xref: ICD10CM:Q24.8 {source="Orphanet:2846/ntbt", source="Orphanet:2846"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:2846 {source="MONDO:equivalentTo"} xref: SCTID:93018000 {source="MONDO:equivalentTo"} -xref: UMLS:C0685699 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2846/e", source="Orphanet:2846"} +xref: UMLS:C0685699 {source="Orphanet:2846/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2846"} is_a: MONDO:0019512 {source="Orphanet:2846"} ! congenital heart malformation [Term] @@ -336598,13 +336439,13 @@ synonym: "ocular albinism (disease)" EXACT [https://orcid.org/0000-0002-6601-216 synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] xref: DOID:0050633 {source="MONDO:equivalentTo"} xref: HP:0001107 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:284804", source="ORDO:284804/inclusion", source="ORDO:284804/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:284804", source="Orphanet:284804/ntbt", source="Orphanet:284804/inclusion"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10065276 {source="Orphanet:284804", source="ORDO:284804/e"} +xref: MedDRA:10065276 {source="Orphanet:284804", source="Orphanet:284804/e"} xref: MESH:D016117 {source="MONDO:equivalentTo"} xref: Orphanet:284804 {source="MONDO:equivalentTo"} xref: SCTID:26399002 {source="MONDO:equivalentTo"} -xref: UMLS:C0078917 {source="Orphanet:284804", source="MONDO:notFoundInDiseaseSubset", source="ORDO:284804/e"} +xref: UMLS:C0078917 {source="Orphanet:284804", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:284804/e"} is_a: MONDO:0018134 {source="Orphanet:284804"} ! disorder of melanin metabolism is_a: MONDO:0020275 {source="Orphanet:284804"} ! oculocutaneous or ocular albinism property_value: IAO:0000589 "ocular albinism (disease)" xsd:string @@ -336617,7 +336458,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:284811"} synonym: "syndrome associated with oculocutaneous albinism" EXACT [MONDO:patterns/syndromic] synonym: "syndromic oculocutaneous albinism" EXACT [MONDO:patterns/syndromic] -xref: ICD10CM:E70.3 {source="ORDO:284811/attributed", source="ORDO:284811/ntbt", source="MONDO:relatedTo", source="Orphanet:284811"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:284811/attributed", source="Orphanet:284811/ntbt", source="Orphanet:284811"} xref: Orphanet:284811 {source="MONDO:equivalentTo"} xref: UMLS:CN227111 {source="MONDO:equivalentTo"} is_a: MONDO:0018134 ! disorder of melanin metabolism @@ -336629,12 +336470,12 @@ id: MONDO:0017306 name: disorder of phenylalanine metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:284814"} -xref: ICD10CM:E70.0 {source="ORDO:284814/specific", source="ORDO:284814/btnt", source="Orphanet:284814"} -xref: ICD10CM:E70.1 {source="ORDO:284814/specific", source="ORDO:284814/btnt", source="Orphanet:284814"} +xref: ICD10CM:E70.0 {source="Orphanet:284814/specific", source="Orphanet:284814/btnt", source="Orphanet:284814"} +xref: ICD10CM:E70.1 {source="Orphanet:284814/specific", source="Orphanet:284814/btnt", source="Orphanet:284814"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:284814 {source="MONDO:equivalentTo"} xref: SCTID:12957008 {source="MONDO:equivalentTo"} -xref: UMLS:C0268461 {source="MONDO:equivalentTo", source="Orphanet:284814", source="ORDO:284814/e"} +xref: UMLS:C0268461 {source="Orphanet:284814/e", source="MONDO:equivalentTo", source="Orphanet:284814"} is_a: MONDO:0019235 {source="Orphanet:284814"} ! inborn disorder of phenylalanin or tyrosine metabolism intersection_of: MONDO:0005066 ! metabolic disease intersection_of: disease_has_basis_in_disruption_of GO:0006558 ! L-phenylalanine metabolic process @@ -336644,7 +336485,7 @@ id: MONDO:0017307 name: disorder of tyrosine metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:284818"} -xref: ICD10CM:E70.2 {source="ORDO:284818/specific", source="Orphanet:284818", source="ORDO:284818/e"} +xref: ICD10CM:E70.2 {source="Orphanet:284818", source="Orphanet:284818/e", source="Orphanet:284818/specific"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:284818 {source="MONDO:equivalentTo"} xref: SCTID:37200009 {source="MONDO:equivalentTo"} @@ -336661,13 +336502,13 @@ subset: ordo_clinical_subtype {source="Orphanet:284973"} subset: speculative synonym: "Marfan syndrome type II" EXACT [NCIT:C75007] synonym: "MFS2" EXACT ABBREVIATION [Orphanet:284973] -xref: ICD10CM:Q87.4 {source="ORDO:284973/attributed", source="ORDO:284973/ntbt", source="Orphanet:284973"} +xref: ICD10CM:Q87.4 {source="Orphanet:284973", source="Orphanet:284973/attributed", source="Orphanet:284973/ntbt"} xref: MESH:C535911 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C75007 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:610168 {source="MONDO:subClassOf", source="ORDO:284973/ntbt", source="Orphanet:284973"} +xref: OMIM:610168 {source="MONDO:subClassOf", source="Orphanet:284973", source="Orphanet:284973/ntbt"} xref: Orphanet:284973 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C2698016 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C75007"} -xref: UMLS:C2931058 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:284973", source="ORDO:284973/e"} +xref: UMLS:C2931058 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:284973", source="Orphanet:284973/e"} is_obsolete: true replaced_by: MONDO:0012427 @@ -336677,7 +336518,7 @@ name: neonatal Marfan syndrome def: "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." [Orphanet:284979] subset: ordo_disease {source="Orphanet:284979"} synonym: "neonatal MFS" EXACT [Orphanet:284979] -xref: ICD10CM:Q87.4 {source="ORDO:284979/attributed", source="ORDO:284979/ntbt", source="Orphanet:284979"} +xref: ICD10CM:Q87.4 {source="Orphanet:284979/attributed", source="Orphanet:284979/ntbt", source="Orphanet:284979"} xref: Orphanet:284979 {source="MONDO:equivalentTo"} xref: SCTID:763839005 {source="MONDO:equivalentTo"} xref: UMLS:CN202885 {source="MONDO:equivalentTo"} @@ -336702,8 +336543,8 @@ id: MONDO:0017311 name: obsolete rare disease with thoracic aortic aneurysm and aortic dissection comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular disease' subset: ordo_group_of_disorders {source="Orphanet:285014"} -xref: ICD10CM:I71.1 {source="ORDO:285014/attributed", source="ORDO:285014/ntbt", source="Orphanet:285014"} -xref: ICD10CM:I71.2 {source="ORDO:285014/attributed", source="ORDO:285014/ntbt", source="Orphanet:285014"} +xref: ICD10CM:I71.1 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"} +xref: ICD10CM:I71.2 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"} xref: Orphanet:285014 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN202889 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -336721,16 +336562,16 @@ synonym: "Perrault syndrome" EXACT CLINGEN_PREFERRED [] synonym: "XX gonodal dysgenesis-deafness syndrome" EXACT [Orphanet:2855] xref: DOID:0050857 {source="MONDO:equivalentTo"} xref: GARD:0002542 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2855/attributed", source="ORDO:2855/ntbt", source="Orphanet:2855"} -xref: OMIM:233400 {source="ORDO:2855/e", source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857"} -xref: OMIM:614129 {source="ORDO:2855/btnt", source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857"} -xref: OMIM:614926 {source="ORDO:2855/btnt", source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857"} -xref: OMIM:615300 {source="ORDO:2855/btnt", source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857"} -xref: OMIM:616138 {source="ORDO:2855/btnt", source="MONDO:superClassOf", source="Orphanet:2855"} +xref: ICD10CM:Q87.8 {source="Orphanet:2855", source="Orphanet:2855/attributed", source="Orphanet:2855/ntbt"} +xref: OMIM:233400 {source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857", source="Orphanet:2855/e"} +xref: OMIM:614129 {source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857", source="Orphanet:2855/btnt"} +xref: OMIM:614926 {source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857", source="Orphanet:2855/btnt"} +xref: OMIM:615300 {source="MONDO:superClassOf", source="Orphanet:2855", source="DOID:0050857", source="Orphanet:2855/btnt"} +xref: OMIM:616138 {source="MONDO:superClassOf", source="Orphanet:2855", source="Orphanet:2855/btnt"} xref: OMIMPS:233400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="MONDO:equivalentTo", source="DOID:0050857"} xref: SCTID:93466004 {source="MONDO:equivalentTo"} -xref: UMLS:C0685838 {source="MONDO:equivalentTo", source="ORDO:2855/e", source="Orphanet:2855"} +xref: UMLS:C0685838 {source="MONDO:equivalentTo", source="Orphanet:2855", source="Orphanet:2855/e"} xref: UMLS:CN239459 {source="MONDO:equivalentTo"} is_a: MONDO:0006025 {source="DOID:0050857", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -336775,9 +336616,9 @@ synonym: "vascular EDS" RELATED [GARD:0002082] synonym: "vascular Ehlers-Danlos syndrome" RELATED [GARD:0002082] synonym: "vEDS" RELATED [GARD:0002082] xref: GARD:0002082 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:286/attributed", source="ORDO:286/ntbt", source="Orphanet:286"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:286/attributed", source="Orphanet:286/ntbt", source="Orphanet:286"} xref: NCIT:C125699 {source="MONDO:equivalentTo"} -xref: OMIM:130050 {source="MONDO:superClassOf", source="ORDO:286/e", source="Orphanet:286"} +xref: OMIM:130050 {source="Orphanet:286/e", source="MONDO:superClassOf", source="Orphanet:286"} xref: Orphanet:286 {source="MONDO:equivalentTo"} xref: SCTID:17025000 {source="MONDO:equivalentTo"} xref: UMLS:C0268338 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C125699", source="Orphanet:286"} @@ -336795,11 +336636,11 @@ synonym: "Al Gazali-Aziz-Salem syndrome" EXACT [Orphanet:2865] synonym: "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease" RELATED [GARD:0000583] synonym: "short stature, webbed neck, heart disease" RELATED [GARD:0000583] xref: GARD:0000583 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2865/attributed", source="ORDO:2865/ntbt", source="Orphanet:2865"} +xref: ICD10CM:Q87.8 {source="Orphanet:2865", source="Orphanet:2865/attributed", source="Orphanet:2865/ntbt"} xref: MESH:C535613 {source="MONDO:equivalentTo"} xref: Orphanet:2865 {source="MONDO:equivalentTo"} xref: SCTID:721073008 {source="MONDO:equivalentTo"} -xref: UMLS:C2930950 {source="MONDO:equivalentTo", source="Orphanet:2865", source="ORDO:2865/e"} +xref: UMLS:C2930950 {source="MONDO:equivalentTo", source="Orphanet:2865", source="Orphanet:2865/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2865", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2865"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -336813,7 +336654,7 @@ synonym: "short stature deafness neutrophil dysfunction" RELATED [GARD:0004841] synonym: "thong Douglas Ferrante syndrome" RELATED [GARD:0004841] synonym: "thong-Douglas-Ferrante syndrome" EXACT [Orphanet:2866] xref: GARD:0004841 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:2866/attributed", source="ORDO:2866/ntbt", source="Orphanet:2866"} +xref: ICD10CM:Q87.1 {source="Orphanet:2866", source="Orphanet:2866/attributed", source="Orphanet:2866/ntbt"} xref: Orphanet:2866 {source="MONDO:equivalentTo"} xref: SCTID:716192009 {source="MONDO:equivalentTo"} is_a: MONDO:0019589 {source="Orphanet:2866"} ! syndromic genetic hearing loss @@ -336826,11 +336667,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2874"} synonym: "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" RELATED [GARD:0004311] synonym: "Phacomatosis pigmentokeratotica" RELATED [GARD:0004311] xref: GARD:0004311 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.8 {source="Orphanet:2874", source="ORDO:2874/attributed", source="ORDO:2874/ntbt"} -xref: MESH:C537893 {source="Orphanet:2874", source="ORDO:2874/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q85.8 {source="Orphanet:2874/attributed", source="Orphanet:2874/ntbt", source="Orphanet:2874"} +xref: MESH:C537893 {source="Orphanet:2874", source="MONDO:equivalentTo", source="Orphanet:2874/e"} xref: Orphanet:2874 {source="MONDO:equivalentTo"} xref: SCTID:723455009 {source="MONDO:equivalentTo"} -xref: UMLS:C2931658 {source="Orphanet:2874", source="ORDO:2874/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931658 {source="Orphanet:2874", source="MONDO:equivalentTo", source="Orphanet:2874/e"} is_a: MONDO:0005073 {source="Orphanet:2874"} ! melanocytic nevus is_a: MONDO:0015950 {source="Orphanet:2874", source="indirect"} ! inherited skin tumor is_a: MONDO:0019755 ! developmental defect during embryogenesis @@ -336848,7 +336689,7 @@ synonym: "phakomatosis pigmentovascularis" EXACT [] synonym: "port-wine stain with oculocutaneous melanosis" EXACT [] synonym: "PPv" RELATED [GARD:0004312] xref: GARD:0004312 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q85.8 {source="ORDO:2875/attributed", source="ORDO:2875/ntbt", source="Orphanet:2875"} +xref: ICD10CM:Q85.8 {source="Orphanet:2875", source="Orphanet:2875/attributed", source="Orphanet:2875/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537894 {source="MONDO:equivalentTo"} xref: Orphanet:2875 {source="MONDO:equivalentTo"} @@ -336872,22 +336713,22 @@ synonym: "hereditary ovalocytosis" EXACT [NCIT:C35882] synonym: "ovalocytosis" EXACT [DOID:2373] xref: DOID:2373 {source="MONDO:equivalentTo"} xref: GARD:0006621 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D58.1 {source="DOID:2373", source="MONDO:equivalentTo", source="ORDO:288/e", source="ORDO:288/specific", source="Orphanet:288"} +xref: ICD10CM:D58.1 {source="Orphanet:288/specific", source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"} xref: ICD9:282.1 {source="DOID:2373", source="MONDO:superClassOf"} -xref: MedDRA:10014490 {source="ORDO:288/e", source="Orphanet:288"} -xref: MESH:D004612 {source="DOID:2373", source="MONDO:equivalentTo", source="ORDO:288/e", source="Orphanet:288"} +xref: MedDRA:10014490 {source="Orphanet:288/e", source="Orphanet:288"} +xref: MESH:D004612 {source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"} xref: NCIT:C35882 {source="DOID:2373", source="MONDO:equivalentTo"} xref: NCIT:C36293 {source="DOID:2373", source="MONDO:otherHierarchy"} -xref: OMIM:130600 {source="DOID:2373", source="ORDO:288/btnt", source="MONDO:superClassOf", source="Orphanet:288"} -xref: OMIM:235370 {source="ORDO:288/btnt", source="MONDO:superClassOf", source="Orphanet:288"} -xref: OMIM:611804 {source="DOID:2373", source="ORDO:288/btnt", source="MONDO:superClassOf", source="Orphanet:288"} +xref: OMIM:130600 {source="DOID:2373", source="Orphanet:288/btnt", source="MONDO:superClassOf", source="Orphanet:288"} +xref: OMIM:235370 {source="Orphanet:288/btnt", source="MONDO:superClassOf", source="Orphanet:288"} +xref: OMIM:611804 {source="DOID:2373", source="Orphanet:288/btnt", source="MONDO:superClassOf", source="Orphanet:288"} xref: Orphanet:288 {source="DOID:2373", source="MONDO:equivalentTo"} xref: SCTID:154801000 {source="DOID:2373"} xref: SCTID:178935009 {source="DOID:2373", source="MONDO:equivalentTo"} xref: SCTID:191169008 {source="DOID:2373", source="MONDO:superClassOf"} xref: SCTID:267558001 {source="DOID:2373"} xref: SCTID:58864003 {source="DOID:2373"} -xref: UMLS:C0013902 {source="DOID:2373", source="MONDO:equivalentTo", source="NCIT:C35882", source="ORDO:288/e", source="Orphanet:288"} +xref: UMLS:C0013902 {source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="NCIT:C35882", source="Orphanet:288"} is_a: MONDO:0003664 {source="Orphanet:288"} ! hemolytic anemia [Term] @@ -336897,15 +336738,15 @@ def: "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis subset: ordo_disease {source="Orphanet:2880"} synonym: "PEPCK deficiency" EXACT [Orphanet:2880] synonym: "phosphoenolpyruvate carboxykinase (GTP) deficiency" EXACT [NCIT:C99015] -xref: ICD10CM:E74.4 {source="Orphanet:2880", source="ORDO:2880/inclusion", source="ORDO:2880/ntbt"} +xref: ICD10CM:E74.4 {source="Orphanet:2880", source="Orphanet:2880/ntbt", source="Orphanet:2880/inclusion"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536654 {source="Orphanet:2880", source="MONDO:equivalentTo", source="ORDO:2880/e"} +xref: MESH:C536654 {source="Orphanet:2880", source="MONDO:equivalentTo", source="Orphanet:2880/e"} xref: NCIT:C99015 {source="MONDO:equivalentTo"} -xref: OMIM:261650 {source="Orphanet:2880", source="MONDO:superClassOf", source="ORDO:2880/btnt"} -xref: OMIM:261680 {source="Orphanet:2880", source="MONDO:superClassOf", source="ORDO:2880/btnt"} +xref: OMIM:261650 {source="Orphanet:2880", source="Orphanet:2880/btnt", source="MONDO:superClassOf"} +xref: OMIM:261680 {source="Orphanet:2880", source="Orphanet:2880/btnt", source="MONDO:superClassOf"} xref: Orphanet:2880 {source="MONDO:equivalentTo"} xref: SCTID:5335002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268194 {source="Orphanet:2880", source="MONDO:equivalentTo", source="NCIT:C99015", source="ORDO:2880/e"} +xref: UMLS:C0268194 {source="Orphanet:2880", source="MONDO:equivalentTo", source="Orphanet:2880/e", source="NCIT:C99015"} is_a: MONDO:0019214 {source="MESH:C536654", source="NCIT:C99015", source="Orphanet:2880/inferred"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0019225 {source="Orphanet:2880"} ! gluconeogenesis disorder @@ -336914,9 +336755,9 @@ id: MONDO:0017321 name: pili torti-onychodysplasia syndrome def: "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." [Orphanet:2890] subset: ordo_malformation_syndrome {source="Orphanet:2890"} -xref: MESH:C537399 {source="Orphanet:2890", source="ORDO:2890/e"} +xref: MESH:C537399 {source="Orphanet:2890/e", source="Orphanet:2890"} xref: Orphanet:2890 {source="MONDO:equivalentTo"} -xref: UMLS:C2931483 {source="MONDO:equivalentTo", source="Orphanet:2890", source="ORDO:2890/e"} +xref: UMLS:C2931483 {source="Orphanet:2890/e", source="MONDO:equivalentTo", source="Orphanet:2890"} is_a: MONDO:0019287 {source="Orphanet:2890"} ! ectodermal dysplasia syndrome [Term] @@ -336958,9 +336799,9 @@ synonym: "autosomal recessive hereditary hypophosphatemic rickets" EXACT [MONDO: synonym: "hereditary hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0050949 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="ORDO:289176/attributed", source="ORDO:289176/ntbt", source="Orphanet:289176"} -xref: OMIM:241520 {source="MONDO:superClassOf", source="ORDO:289176/btnt", source="Orphanet:289176", source="DOID:0050949"} -xref: OMIM:613312 {source="MONDO:superClassOf", source="ORDO:289176/btnt", source="Orphanet:289176", source="DOID:0050949"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:289176/attributed", source="Orphanet:289176/ntbt", source="Orphanet:289176"} +xref: OMIM:241520 {source="MONDO:superClassOf", source="Orphanet:289176/btnt", source="Orphanet:289176", source="DOID:0050949"} +xref: OMIM:613312 {source="MONDO:superClassOf", source="Orphanet:289176/btnt", source="Orphanet:289176", source="DOID:0050949"} xref: Orphanet:289176 {source="MONDO:equivalentTo"} xref: SCTID:90505000 {source="MONDO:equivalentTo"} xref: UMLS:CN202957 {source="MONDO:equivalentTo"} @@ -336977,8 +336818,8 @@ name: early-onset epileptic encephalopathy and intellectual disability due to GR def: "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI." [Orphanet:289266] subset: ordo_disease {source="Orphanet:289266"} synonym: "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:E72.1 {source="Orphanet:289266", source="ORDO:289266/attributed", source="ORDO:289266/ntbt"} -xref: OMIM:613971 {source="Orphanet:289266", source="ORDO:289266/e", source="MONDO:equivalentObsolete"} +xref: ICD10CM:E72.1 {source="Orphanet:289266", source="Orphanet:289266/attributed", source="Orphanet:289266/ntbt"} +xref: OMIM:613971 {source="Orphanet:289266", source="MONDO:equivalentObsolete", source="Orphanet:289266/e"} xref: Orphanet:289266 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:289266"} ! syndromic intellectual disability is_a: MONDO:0020072 {source="Orphanet:289266"} ! childhood-onset epilepsy syndrome @@ -336994,7 +336835,7 @@ synonym: "IDH Gene family" EXACT [NCIT:C129260] synonym: "infective dermatitis associated with human T-lymphotropic virus type 1" EXACT [Orphanet:289347] synonym: "infective dermatitis associated with human T-lymphotropic virus type I" EXACT [Orphanet:289347] synonym: "isocitrate dehydrogenase Gene family" EXACT [NCIT:C129260] -xref: ICD10CM:L30.3 {source="Orphanet:289347", source="ORDO:289347/ntbt"} +xref: ICD10CM:L30.3 {source="Orphanet:289347/ntbt", source="Orphanet:289347"} xref: NCIT:C129260 {source="MONDO:equivalentTo"} xref: Orphanet:289347 {source="MONDO:equivalentTo"} xref: UMLS:CN202966 {source="MONDO:equivalentTo"} @@ -337009,7 +336850,7 @@ def: "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ ce subset: ordo_disease {source="Orphanet:289356"} synonym: "NGCO" EXACT ABBREVIATION [Orphanet:289356] synonym: "primary non-gestational ovarian choriocarcinoma" EXACT [Orphanet:289356] -xref: ICD10CM:C56 {source="Orphanet:289356", source="ORDO:289356/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:289356", source="Orphanet:289356/ntbt"} xref: Orphanet:289356 {source="MONDO:equivalentTo"} xref: SCTID:716588005 {source="MONDO:equivalentTo"} xref: UMLS:C4274424 {source="MONDO:equivalentTo"} @@ -337021,7 +336862,7 @@ id: MONDO:0017328 name: non-central nervous system-localized embryonal carcinoma subset: ordo_clinical_subtype {source="Orphanet:289362"} synonym: "non-CNS-localized embryonal carcinoma" EXACT [Orphanet:289362] -xref: ICD10CM:C22.7 {source="ORDO:289362/ntbt", source="Orphanet:289362"} +xref: ICD10CM:C22.7 {source="Orphanet:289362/ntbt", source="Orphanet:289362"} xref: Orphanet:289362 {source="MONDO:equivalentTo"} xref: UMLS:CN202968 {source="MONDO:equivalentTo"} is_a: MONDO:0005440 {source="Orphanet:289362"} ! embryonal carcinoma @@ -337033,17 +336874,17 @@ def: "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract m subset: ordo_malformation_syndrome {source="Orphanet:289365"} synonym: "familial VUR" EXACT [Orphanet:289365] synonym: "hereditary vesicoureteral reflux (disease)" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:N13.7 {source="Orphanet:289365", source="ORDO:289365/attributed", source="ORDO:289365/ntbt"} -xref: OMIM:193000 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/ntbt", source="DOID:9620"} +xref: ICD10CM:N13.7 {source="Orphanet:289365", source="Orphanet:289365/attributed", source="Orphanet:289365/ntbt"} +xref: OMIM:193000 {source="Orphanet:289365", source="Orphanet:289365/ntbt", source="MONDO:superClassOf", source="DOID:9620"} xref: OMIM:314550 {source="MONDO:superClassOf", source="DOID:9620"} -xref: OMIM:610878 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} -xref: OMIM:613674 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} -xref: OMIM:614317 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} -xref: OMIM:614318 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} -xref: OMIM:614319 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} +xref: OMIM:610878 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} +xref: OMIM:613674 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} +xref: OMIM:614317 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} +xref: OMIM:614318 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} +xref: OMIM:614319 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} xref: OMIM:614674 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:9620"} -xref: OMIM:615390 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} -xref: OMIM:615963 {source="Orphanet:289365", source="MONDO:superClassOf", source="ORDO:289365/btnt", source="DOID:9620"} +xref: OMIM:615390 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} +xref: OMIM:615963 {source="Orphanet:289365", source="Orphanet:289365/btnt", source="MONDO:superClassOf", source="DOID:9620"} xref: OMIMPS:193000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:289365 {source="MONDO:equivalentTo"} xref: SCTID:763716008 {source="MONDO:equivalentTo"} @@ -337076,9 +336917,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2894"} synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability" RELATED [GARD:0004368] synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" RELATED DEPRECATED [GARD:0004368] xref: GARD:0004368 {source="MONDO:equivalentTo"} -xref: MESH:C537400 {source="Orphanet:2894", source="ORDO:2894/e", source="MONDO:equivalentTo"} +xref: MESH:C537400 {source="Orphanet:2894", source="MONDO:equivalentTo", source="Orphanet:2894/e"} xref: Orphanet:2894 {source="MONDO:equivalentObsolete"} -xref: UMLS:C2931484 {source="Orphanet:2894", source="ORDO:2894/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931484 {source="Orphanet:2894", source="MONDO:equivalentTo", source="Orphanet:2894/e"} is_a: MONDO:0015335 {source="Orphanet:2894"} ! orofacial clefting syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome xsd:anyURI {source="GARD:0004368"} @@ -337114,7 +336955,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:289513"} synonym: "Del(12)(q15)(q21.1)" EXACT [Orphanet:289513] synonym: "deletion 12q15q21.1" EXACT [Orphanet:289513] synonym: "monosomy 12q15q21.1" EXACT [Orphanet:289513] -xref: ICD10CM:Q93.5 {source="ORDO:289513/attributed", source="ORDO:289513/ntbt", source="Orphanet:289513"} +xref: ICD10CM:Q93.5 {source="Orphanet:289513", source="Orphanet:289513/attributed", source="Orphanet:289513/ntbt"} xref: Orphanet:289513 {source="MONDO:equivalentTo"} xref: SCTID:734030009 {source="MONDO:equivalentTo"} xref: UMLS:C4518344 {source="MONDO:equivalentTo"} @@ -337131,7 +336972,7 @@ name: microtriplication 11q24.1 def: "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." [Orphanet:289522] subset: ordo_malformation_syndrome {source="Orphanet:289522"} synonym: "tetrasomy 11q24.1" EXACT [Orphanet:289522] -xref: ICD10CM:Q99.8 {source="Orphanet:289522", source="ORDO:289522/attributed", source="ORDO:289522/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:289522/attributed", source="Orphanet:289522/ntbt", source="Orphanet:289522"} xref: Orphanet:289522 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:289522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0022173 {source="Orphanet:289522"} ! chromosome 11q trisomy @@ -337145,7 +336986,7 @@ subset: ordo_disease {source="Orphanet:289527"} synonym: "fatal infantile HCM due to mitochondrial complex I deficiency" EXACT [Orphanet:289527] synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency" EXACT [Orphanet:289527] synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency" EXACT [Orphanet:289527] -xref: ICD10CM:I42.2 {source="ORDO:289527/attributed", source="ORDO:289527/ntbt", source="Orphanet:289527"} +xref: ICD10CM:I42.2 {source="Orphanet:289527", source="Orphanet:289527/attributed", source="Orphanet:289527/ntbt"} xref: Orphanet:289527 {source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy @@ -337154,7 +336995,7 @@ id: MONDO:0017337 name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency def: "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." [Orphanet:289548] subset: ordo_disease {source="Orphanet:289548"} -xref: ICD10CM:E27.1 {source="ORDO:289548/attributed", source="ORDO:289548/ntbt", source="Orphanet:289548"} +xref: ICD10CM:E27.1 {source="Orphanet:289548", source="Orphanet:289548/attributed", source="Orphanet:289548/ntbt"} xref: Orphanet:289548 {source="MONDO:equivalentTo"} xref: SCTID:764960005 {source="MONDO:equivalentTo"} is_a: MONDO:0005495 {source="Orphanet:289548", source="Orphanet:289548/inferred"} ! adrenal gland disorder @@ -337193,9 +337034,9 @@ subset: ordo_disease {source="Orphanet:289586"} synonym: "autosomal recessive exfoliative ichthyosis" EXACT [Orphanet:289586] synonym: "exfoliative ichthyosis" EXACT CLINGEN_PREFERRED [] synonym: "ichthyosis exfoliativa" EXACT [Orphanet:289586] -xref: ICD10CM:Q80.8 {source="Orphanet:289586", source="ORDO:289586/attributed", source="ORDO:289586/ntbt"} -xref: OMIM:607936 {source="Orphanet:289586", source="MONDO:superClassOf", source="ORDO:289586/btnt"} -xref: OMIM:617115 {source="Orphanet:289586", source="MONDO:superClassOf", source="ORDO:289586/btnt"} +xref: ICD10CM:Q80.8 {source="Orphanet:289586/attributed", source="Orphanet:289586/ntbt", source="Orphanet:289586"} +xref: OMIM:607936 {source="Orphanet:289586/btnt", source="Orphanet:289586", source="MONDO:superClassOf"} +xref: OMIM:617115 {source="Orphanet:289586/btnt", source="Orphanet:289586", source="MONDO:superClassOf"} xref: Orphanet:289586 {source="MONDO:equivalentTo"} xref: UMLS:C1838440 {source="Orphanet:289586", source="MONDO:equivalentTo"} is_a: MONDO:0017265 {source="Orphanet:289586"} ! autosomal recessive congenital ichthyosis @@ -337211,7 +337052,7 @@ synonym: "juvenile nasopharyngeal angiofibroma (disease)" EXACT [https://orcid.o synonym: "nasopharyngeal angiofibroma" EXACT [NCIT:C27479] synonym: "nasopharyngeal juvenile angiofibroma" EXACT [NCIT:C27479] xref: HP:0030429 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D10.6 {source="Orphanet:289596", source="MONDO:relatedTo", source="ORDO:289596/ntbt"} +xref: ICD10CM:D10.6 {source="Orphanet:289596", source="MONDO:relatedTo", source="Orphanet:289596/ntbt"} xref: NCIT:C27479 {source="MONDO:equivalentTo"} xref: Orphanet:289596 {source="MONDO:equivalentTo"} xref: SCTID:716590006 {source="MONDO:equivalentTo"} @@ -337251,9 +337092,9 @@ comment: the classification of diseases such as HL and BL under this class is no subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:289644"} synonym: "EBV-associated lymphoproliferative disorder" EXACT [Orphanet:289644] -xref: MedDRA:10068349 {source="Orphanet:289644", source="ORDO:289644/e"} +xref: MedDRA:10068349 {source="Orphanet:289644", source="Orphanet:289644/e"} xref: Orphanet:289644 {source="MONDO:equivalentTo"} -xref: UMLS:C2363744 {source="Orphanet:289644", source="ORDO:289644/e", source="MONDO:equivalentTo"} +xref: UMLS:C2363744 {source="Orphanet:289644", source="MONDO:equivalentTo", source="Orphanet:289644/e"} is_a: MONDO:0017342 {source="Orphanet:289644"} ! Epstein-Barr virus-related tumor [Term] @@ -337290,7 +337131,7 @@ synonym: "Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elder synonym: "Epstein-Barr Virus Positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281] synonym: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281] synonym: "Senile EBV-associated B-cell lymphoproliferative disorder" EXACT [NCIT:C80281] -xref: ICD10CM:C83.3 {source="Orphanet:289661", source="ORDO:289661/ntbt"} +xref: ICD10CM:C83.3 {source="Orphanet:289661", source="Orphanet:289661/ntbt"} xref: ICDO:9680/3 {source="NCIT:C80281"} xref: NCIT:C80281 {source="MONDO:equivalentTo"} xref: Orphanet:289661 {source="MONDO:equivalentTo"} @@ -337309,16 +337150,16 @@ synonym: "PBL" EXACT ABBREVIATION [Orphanet:289666] synonym: "Plasmablastic lymphoma" EXACT [NCIT:C7224] synonym: "PLBL" RELATED ABBREVIATION [ONCOTREE:PLBL] xref: GARD:0012125 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.3 {source="Orphanet:289666", source="ORDO:289666/ntbt"} +xref: ICD10CM:C83.3 {source="Orphanet:289666/ntbt", source="Orphanet:289666"} xref: ICDO:9684/3 {source="NCIT:C7224"} xref: ICDO:9735/3 {source="NCIT:C7224"} -xref: MedDRA:10065039 {source="Orphanet:289666", source="ORDO:289666/e"} +xref: MedDRA:10065039 {source="Orphanet:289666", source="Orphanet:289666/e"} xref: MESH:D000069293 {source="MONDO:equivalentTo"} xref: NCIT:C7224 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PLBL {source="MONDO:equivalentTo"} xref: Orphanet:289666 {source="MONDO:equivalentTo"} xref: SCTID:724648008 {source="MONDO:equivalentTo"} -xref: UMLS:C3472614 {source="NCIT:C7224", source="Orphanet:289666", source="ORDO:289666/e", source="MONDO:equivalentTo"} +xref: UMLS:C3472614 {source="NCIT:C7224", source="Orphanet:289666", source="MONDO:equivalentTo", source="Orphanet:289666/e"} is_a: MONDO:0017343 {source="Orphanet:289666"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0017595 {source="MONDO:Redundant", source="Orphanet:289666", source="indirect"} ! aggressive B-cell non-Hodgkin lymphoma is_a: MONDO:0018905 {source="MESH:D000069293", source="NCIT:C7224"} ! diffuse large B-cell lymphoma @@ -337344,7 +337185,7 @@ xref: ICDO:8713/1 {source="NCIT:C50401"} xref: NCIT:C50401 {source="MONDO:equivalentTo"} xref: ONCOTREE:MPC {source="MONDO:equivalentTo"} xref: Orphanet:289685 {source="MONDO:equivalentTo"} -xref: UMLS:C1302808 {source="ORDO:289685/e", source="NCIT:C50401", source="Orphanet:289685", source="MONDO:equivalentTo"} +xref: UMLS:C1302808 {source="NCIT:C50401", source="Orphanet:289685", source="MONDO:equivalentTo", source="Orphanet:289685/e"} is_a: MONDO:0002604 {source="NCIT:C50401"} ! pericytic neoplasm is_a: MONDO:0017345 {source="Orphanet:289685"} ! Epstein-Barr virus-associated mesenchymal tumor @@ -337358,7 +337199,7 @@ synonym: "disorder of tryptophan metabolism" RELATED [Orphanet:289829] synonym: "inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn tryptophan metabolic process disorder" EXACT [] synonym: "rare inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E70.8 {source="ORDO:289829/inclusion", source="ORDO:289829/ntbt", source="Orphanet:289829"} +xref: ICD10CM:E70.8 {source="Orphanet:289829/ntbt", source="Orphanet:289829/inclusion", source="Orphanet:289829"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:289829 {source="MONDO:equivalentTo"} xref: SCTID:5181007 {source="MONDO:equivalentTo"} @@ -337373,7 +337214,7 @@ name: inborn disorder of lysine and hydroxylysine metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:289832"} synonym: "disorder of lysine and hydroxylysine metabolism" RELATED [Orphanet:289832] -xref: ICD10CM:E72.3 {source="ORDO:289832/specific", source="ORDO:289832/e", source="MONDO:equivalentTo", source="Orphanet:289832"} +xref: ICD10CM:E72.3 {source="MONDO:equivalentTo", source="Orphanet:289832", source="Orphanet:289832/specific", source="Orphanet:289832/e"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:289832 {source="MONDO:equivalentTo"} @@ -337386,11 +337227,11 @@ id: MONDO:0017352 name: disorder of glutamine metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:289841"} -xref: ICD10CM:E72.8 {source="ORDO:289841/index", source="Orphanet:289841", source="ORDO:289841/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:289841/ntbt", source="Orphanet:289841", source="Orphanet:289841/index"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:289841 {source="MONDO:equivalentTo"} xref: SCTID:190724004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342669 {source="ORDO:289841/e", source="Orphanet:289841", source="MONDO:equivalentTo"} +xref: UMLS:C0342669 {source="Orphanet:289841", source="MONDO:equivalentTo", source="Orphanet:289841/e"} is_a: MONDO:0019189 {source="MONDO:Redundant", source="Orphanet:289841", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism intersection_of: disease_disrupts GO:0006541 ! glutamine metabolic process @@ -337403,7 +337244,7 @@ subset: ordo_clinical_subtype {source="Orphanet:289857"} synonym: "classic glycine encephalopathy" EXACT [Orphanet:289857] synonym: "neonatal NKH" EXACT [Orphanet:289857] synonym: "neonatal non-ketotic hyperglycinemia" EXACT [Orphanet:289857] -xref: ICD10CM:E72.5 {source="ORDO:289857/attributed", source="ORDO:289857/ntbt", source="Orphanet:289857"} +xref: ICD10CM:E72.5 {source="Orphanet:289857", source="Orphanet:289857/attributed", source="Orphanet:289857/ntbt"} xref: Orphanet:289857 {source="MONDO:equivalentTo"} xref: UMLS:C0751748 {source="MONDO:subClassOf", source="Orphanet:289857"} is_a: MONDO:0011612 {source="Orphanet:289857"} ! glycine encephalopathy @@ -337418,7 +337259,7 @@ synonym: "glycine encephalopathy of infancy" EXACT [MONDO:design_pattern, MONDO: synonym: "infantile NKH" EXACT [Orphanet:289860] synonym: "infantile non-ketotic hyperglycinemia" EXACT [Orphanet:289860] synonym: "infantile onset glycine encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] -xref: ICD10CM:E72.5 {source="Orphanet:289860", source="ORDO:289860/attributed", source="ORDO:289860/ntbt"} +xref: ICD10CM:E72.5 {source="Orphanet:289860", source="Orphanet:289860/attributed", source="Orphanet:289860/ntbt"} xref: Orphanet:289860 {source="MONDO:equivalentTo"} is_a: MONDO:0011612 {source="MONDO:Redundant", source="Orphanet:289860"} ! glycine encephalopathy intersection_of: MONDO:0011612 ! glycine encephalopathy @@ -337434,7 +337275,7 @@ synonym: "disorder of proline metabolism" EXACT [Orphanet:289866] synonym: "inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn proline metabolic process disorder" EXACT [] synonym: "rare inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E72.8 {source="ORDO:289866/attributed", source="ORDO:289866/ntbt", source="Orphanet:289866"} +xref: ICD10CM:E72.8 {source="Orphanet:289866", source="Orphanet:289866/attributed", source="Orphanet:289866/ntbt"} xref: Orphanet:289866 {source="MONDO:equivalentTo"} xref: UMLS:CN227118 {source="MONDO:equivalentTo"} is_a: MONDO:0019230 {source="Orphanet:289866"} ! inborn disorder of ornithine or proline metabolism @@ -337451,10 +337292,10 @@ synonym: "disorder of ornithine metabolism" EXACT [Orphanet:289869] synonym: "inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn ornithine metabolic process disorder" EXACT [] synonym: "rare inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E72.4 {source="ORDO:289869/e", source="Orphanet:289869", source="ORDO:289869/specific"} +xref: ICD10CM:E72.4 {source="Orphanet:289869/e", source="Orphanet:289869/specific", source="Orphanet:289869"} xref: Orphanet:289869 {source="MONDO:equivalentTo"} xref: SCTID:237928008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342690 {source="MONDO:equivalentTo", source="ORDO:289869/e", source="Orphanet:289869"} +xref: UMLS:C0342690 {source="Orphanet:289869/e", source="MONDO:equivalentTo", source="Orphanet:289869"} is_a: MONDO:0019230 {source="Orphanet:289869"} ! inborn disorder of ornithine or proline metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006591 ! ornithine metabolic process @@ -337463,7 +337304,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006591 ! ornithine metab id: MONDO:0017357 name: transient hyperammonemia of the newborn subset: ordo_clinical_situation {source="Orphanet:289877"} -xref: ICD10CM:P74.8 {source="ORDO:289877/ntbt", source="Orphanet:289877"} +xref: ICD10CM:P74.8 {source="Orphanet:289877", source="Orphanet:289877/ntbt"} xref: Orphanet:289877 {source="MONDO:equivalentTo"} xref: UMLS:CN203020 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 ! respiratory system disorder @@ -337484,7 +337325,7 @@ def: "A group of five inherited disorders caused by mutations in the AUH, DNAJC1 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:289902"} xref: DOID:0060336 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="ORDO:289902/attributed", source="ORDO:289902/ntbt", source="DOID:0060336", source="Orphanet:289902"} +xref: ICD10CM:E71.1 {source="DOID:0060336", source="Orphanet:289902/attributed", source="Orphanet:289902/ntbt", source="Orphanet:289902"} xref: ICD10CM:E71.111 {source="DOID:0060336", source="MONDO:equivalentTo"} xref: MESH:C579867 {source="DOID:0060336", source="MONDO:equivalentTo"} xref: NCIT:C98678 {source="MONDO:equivalentTo"} @@ -337503,8 +337344,8 @@ def: "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn err subset: ordo_clinical_subtype {source="Orphanet:289916"} synonym: "complete deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:289916] synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut0" EXACT [Orphanet:289916] -xref: ICD10CM:E71.1 {source="Orphanet:289916", source="ORDO:289916/attributed", source="ORDO:289916/ntbt"} -xref: OMIM:251000 {source="MONDO:subClassOf", source="Orphanet:289916", source="ORDO:289916/ntbt"} +xref: ICD10CM:E71.1 {source="Orphanet:289916/attributed", source="Orphanet:289916/ntbt", source="Orphanet:289916"} +xref: OMIM:251000 {source="MONDO:subClassOf", source="Orphanet:289916/ntbt", source="Orphanet:289916"} xref: Orphanet:289916 {source="MONDO:equivalentTo"} xref: SCTID:237945003 {source="MONDO:equivalentTo"} xref: UMLS:C1855114 {source="MONDO:subClassOf", source="Orphanet:289916"} @@ -337526,14 +337367,14 @@ synonym: "rubella congenital" EXACT [GARD:0004744] xref: DOID:9228 {source="EFO:0007218", source="MONDO:obsolete"} xref: EFO:0007218 {source="MONDO:equivalentTo"} xref: GARD:0004744 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:P35.0 {source="ORDO:290/e", source="Orphanet:290", source="MONDO:equivalentTo"} +xref: ICD10CM:P35.0 {source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"} xref: ICD9:771.0 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10010618 {source="ORDO:290/e", source="Orphanet:290"} -xref: MESH:D012410 {source="ORDO:290/e", source="EFO:0007218", source="Orphanet:290", source="MONDO:equivalentTo"} +xref: MedDRA:10010618 {source="Orphanet:290", source="Orphanet:290/e"} +xref: MESH:D012410 {source="EFO:0007218", source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"} xref: NCIT:C34992 {source="MONDO:equivalentTo"} xref: Orphanet:290 {source="MONDO:equivalentTo"} xref: SCTID:1857005 {source="MONDO:equivalentTo"} -xref: UMLS:C0035921 {source="MONDO:relatedTo", source="ORDO:290/e", source="Orphanet:290", source="MONDO:equivalentTo", source="NCIT:C34992"} +xref: UMLS:C0035921 {source="MONDO:relatedTo", source="Orphanet:290", source="MONDO:equivalentTo", source="NCIT:C34992", source="Orphanet:290/e"} is_a: MONDO:0004656 {source="NCIT:C34992"} ! rubella is_a: MONDO:0005108 {source="EFO:0007218", source="MONDO:Redundant", source="NCIT:C34992/inferred"} ! viral infectious disease is_a: MONDO:0016511 {source="Orphanet:290"} ! infectious embryofetopathy @@ -337552,11 +337393,11 @@ synonym: "brachial plexus neuritis" EXACT [Orphanet:2901] synonym: "immune brachial plexus neuropathy" EXACT [Orphanet:2901] synonym: "mononeuritis multiplex with brachial predilection" EXACT [Orphanet:2901] synonym: "neuralgic shoulder amyotrophy" EXACT [Orphanet:2901] -xref: ICD10CM:G54.5 {source="ORDO:2901/ntbt", source="Orphanet:2901"} -xref: MedDRA:10063020 {source="ORDO:2901/e", source="Orphanet:2901"} -xref: OMIM:162100 {source="ORDO:2901/btnt", source="MONDO:superClassOf", source="Orphanet:2901"} +xref: ICD10CM:G54.5 {source="Orphanet:2901/ntbt", source="Orphanet:2901"} +xref: MedDRA:10063020 {source="Orphanet:2901/e", source="Orphanet:2901"} +xref: OMIM:162100 {source="MONDO:superClassOf", source="Orphanet:2901/btnt", source="Orphanet:2901"} xref: Orphanet:2901 {source="MONDO:equivalentTo"} -xref: UMLS:C0221759 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2901/e", source="Orphanet:2901"} +xref: UMLS:C0221759 {source="Orphanet:2901/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2901"} xref: UMLS:C1510479 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2901"} is_a: MONDO:0015923 {source="Orphanet:2901"} ! acquired peripheral neuropathy @@ -337574,7 +337415,7 @@ synonym: "chronic eosinophilic pneumonia (CEP)" RELATED [GARD:0001130] synonym: "chronic idiopathic eosinophilic pneumonia" RELATED [GARD:0001130] synonym: "eosinophilic idiopathic chronic pneumopathy" RELATED [GARD:0001130] xref: GARD:0001130 {source="MONDO:equivalentTo"} -xref: ICD10CM:J82 {source="ORDO:2902/ntbt", source="Orphanet:2902"} +xref: ICD10CM:J82 {source="Orphanet:2902", source="Orphanet:2902/ntbt"} xref: MESH:C535590 {source="MONDO:equivalentTo"} xref: Orphanet:2902 {source="MONDO:equivalentTo"} xref: UMLS:C0008680 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2902"} @@ -337601,13 +337442,13 @@ synonym: "Takatsuki syndrome" EXACT [Orphanet:2905] xref: DOID:14039 {source="MONDO:equivalentTo", source="EFO:1001115"} xref: EFO:1001115 {source="MONDO:equivalentTo"} xref: GARD:0007411 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MedDRA:10053869 {source="EFO:1001115", source="ORDO:2905/e", source="Orphanet:2905"} -xref: MESH:D016878 {source="MONDO:equivalentTo", source="EFO:1001115", source="ORDO:2905/e", source="DOID:14039", source="Orphanet:2905"} +xref: MedDRA:10053869 {source="Orphanet:2905/e", source="EFO:1001115", source="Orphanet:2905"} +xref: MESH:D016878 {source="Orphanet:2905/e", source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039", source="Orphanet:2905"} xref: NCIT:C80303 {source="MONDO:equivalentTo", source="EFO:1001115", source="exact-label-match", source="DOID:14039"} xref: Orphanet:2905 {source="MONDO:equivalentTo"} xref: SCTID:79268002 {source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039"} -xref: UMLS:C0085404 {source="NCIT:C80303", source="MONDO:equivalentTo", source="ORDO:2905/e", source="DOID:14039", source="Orphanet:2905"} -xref: UMLS:C1510415 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2905/e", source="Orphanet:2905"} +xref: UMLS:C0085404 {source="NCIT:C80303", source="Orphanet:2905/e", source="MONDO:equivalentTo", source="DOID:14039", source="Orphanet:2905"} +xref: UMLS:C1510415 {source="Orphanet:2905/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2905"} is_a: MONDO:0002254 {source="NCIT:C80303"} ! syndromic disease is_a: MONDO:0015923 {source="Orphanet:2905"} ! acquired peripheral neuropathy is_a: MONDO:0016169 {source="Orphanet:2905"} ! chronic acquired demyelinating polyneuropathy @@ -337621,9 +337462,9 @@ id: MONDO:0017365 name: hereditary acrokeratotic poikiloderma, Weary type subset: ordo_clinical_subtype {source="Orphanet:2907"} synonym: "congenital poikiloderma with bullae, Weary type" EXACT [Orphanet:2907] -xref: ICD10CM:Q82.8 {source="Orphanet:2907", source="ORDO:2907/attributed", source="ORDO:2907/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:2907", source="Orphanet:2907/attributed", source="Orphanet:2907/ntbt"} xref: Orphanet:2907 {source="MONDO:equivalentTo"} -xref: UMLS:C0406556 {source="Orphanet:2907", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2907/e"} +xref: UMLS:C0406556 {source="Orphanet:2907", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2907/e"} is_a: MONDO:0008260 {source="Orphanet:2907"} ! Kindler syndrome property_value: confidence "0.4586894586894583" xsd:double @@ -337639,16 +337480,16 @@ synonym: "hereditary paraganglioma-pheochromocytoma" RELATED [GARD:0011984] synonym: "hereditary pheochromocytoma-paraganglioma" EXACT CLINGEN_PREFERRED [] synonym: "SDHx-related paraganglioma-pheochromocytoma" RELATED [GARD:0011984] xref: GARD:0011984 {source="MONDO:equivalentTo"} -xref: ICD10CM:C74.1 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"} -xref: ICD10CM:C75.5 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"} -xref: ICD10CM:D35.0 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"} -xref: ICD10CM:D35.6 {source="Orphanet:29072", source="ORDO:29072/attributed", source="ORDO:29072/ntbt"} -xref: OMIM:115310 {source="Orphanet:29072", source="MONDO:superClassOf", source="ORDO:29072/btnt"} -xref: OMIM:168000 {source="Orphanet:29072", source="MONDO:superClassOf", source="ORDO:29072/btnt"} -xref: OMIM:171300 {source="Orphanet:29072", source="MONDO:superClassOf", source="ORDO:29072/btnt"} -xref: OMIM:601650 {source="Orphanet:29072", source="MONDO:superClassOf", source="ORDO:29072/btnt"} -xref: OMIM:605373 {source="Orphanet:29072", source="MONDO:superClassOf", source="ORDO:29072/btnt"} -xref: OMIM:614165 {source="Orphanet:29072", source="MONDO:superClassOf", source="ORDO:29072/btnt"} +xref: ICD10CM:C74.1 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} +xref: ICD10CM:C75.5 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} +xref: ICD10CM:D35.0 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} +xref: ICD10CM:D35.6 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} +xref: OMIM:115310 {source="Orphanet:29072", source="Orphanet:29072/btnt", source="MONDO:superClassOf"} +xref: OMIM:168000 {source="Orphanet:29072", source="Orphanet:29072/btnt", source="MONDO:superClassOf"} +xref: OMIM:171300 {source="Orphanet:29072", source="Orphanet:29072/btnt", source="MONDO:superClassOf"} +xref: OMIM:601650 {source="Orphanet:29072", source="Orphanet:29072/btnt", source="MONDO:superClassOf"} +xref: OMIM:605373 {source="Orphanet:29072", source="Orphanet:29072/btnt", source="MONDO:superClassOf"} +xref: OMIM:614165 {source="Orphanet:29072", source="Orphanet:29072/btnt", source="MONDO:superClassOf"} xref: Orphanet:29072 {source="MONDO:equivalentTo"} xref: UMLS:C1708353 {source="MONDO:equivalentTo"} is_a: MONDO:0005495 {source="Orphanet:29072"} ! adrenal gland disorder @@ -337728,7 +337569,7 @@ synonym: "mother-to-child transmission of varicella syndrome" EXACT [Orphanet:29 synonym: "Varicella embryopathy" RELATED [GARD:0000045] synonym: "Varicella virus antenatal infection" RELATED [GARD:0000045] xref: GARD:0000045 {source="MONDO:equivalentTo"} -xref: ICD10CM:P35.8 {source="ORDO:291/e", source="Orphanet:291"} +xref: ICD10CM:P35.8 {source="Orphanet:291", source="Orphanet:291/e"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C116800 {source="MONDO:equivalentTo"} xref: Orphanet:291 {source="MONDO:equivalentTo"} @@ -337756,18 +337597,18 @@ xref: DOID:4953 {source="MONDO:equivalentTo", source="EFO:0007450"} xref: EFO:0007450 {source="MONDO:equivalentTo"} xref: GARD:0007413 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:A80 {source="DOID:4953"} -xref: ICD10CM:A80.0 {source="ORDO:2912/btnt", source="Orphanet:2912"} -xref: ICD10CM:A80.1 {source="ORDO:2912/btnt", source="Orphanet:2912"} -xref: ICD10CM:A80.2 {source="ORDO:2912/btnt", source="Orphanet:2912"} -xref: ICD10CM:A80.3 {source="ORDO:2912/btnt", source="Orphanet:2912"} -xref: ICD10CM:A80.4 {source="ORDO:2912/btnt", source="MONDO:superClassOf", source="Orphanet:2912"} -xref: ICD10CM:A80.9 {source="ORDO:2912/btnt", source="DOID:4953", source="Orphanet:2912"} +xref: ICD10CM:A80.0 {source="Orphanet:2912/btnt", source="Orphanet:2912"} +xref: ICD10CM:A80.1 {source="Orphanet:2912/btnt", source="Orphanet:2912"} +xref: ICD10CM:A80.2 {source="Orphanet:2912/btnt", source="Orphanet:2912"} +xref: ICD10CM:A80.3 {source="Orphanet:2912/btnt", source="Orphanet:2912"} +xref: ICD10CM:A80.4 {source="MONDO:superClassOf", source="Orphanet:2912/btnt", source="Orphanet:2912"} +xref: ICD10CM:A80.9 {source="DOID:4953", source="Orphanet:2912/btnt", source="Orphanet:2912"} xref: ICD9:045 {source="DOID:4953"} xref: ICD9:045.9 {source="DOID:4953"} xref: ICD9:045.90 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:045.92 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036012 {source="ORDO:2912/e", source="Orphanet:2912"} -xref: MESH:D011051 {source="MONDO:equivalentTo", source="DOID:4953", source="ORDO:2912/e", source="EFO:0007450", source="Orphanet:2912"} +xref: MedDRA:10036012 {source="Orphanet:2912/e", source="Orphanet:2912"} +xref: MESH:D011051 {source="Orphanet:2912/e", source="MONDO:equivalentTo", source="DOID:4953", source="EFO:0007450", source="Orphanet:2912"} xref: NCIT:C35550 {source="MONDO:equivalentTo", source="DOID:4953"} xref: Orphanet:2912 {source="MONDO:equivalentTo"} xref: SCTID:154320008 {source="DOID:4953"} @@ -337779,7 +337620,7 @@ xref: SCTID:367318001 {source="DOID:4953"} xref: SCTID:398102009 {source="MONDO:equivalentTo", source="DOID:4953"} xref: SCTID:398256009 {source="DOID:4953"} xref: SCTID:54839009 {source="DOID:4953"} -xref: UMLS:C0032371 {source="NCIT:C35550", source="MONDO:equivalentTo", source="DOID:4953", source="ORDO:2912/e", source="Orphanet:2912"} +xref: UMLS:C0032371 {source="Orphanet:2912/e", source="NCIT:C35550", source="MONDO:equivalentTo", source="DOID:4953", source="Orphanet:2912"} is_a: MONDO:0002565 {source="MESH:D011051"} ! myelitis is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder is_a: MONDO:0005108 {source="DOID:4953", source="EFO:0007450", source="MESH:D011051/inferred", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease @@ -337811,7 +337652,7 @@ synonym: "congenital enterovirus infection" EXACT [] synonym: "congenital enterovirus infectious disease" EXACT [MONDO:design_pattern, MONDO:patterns/congenital] synonym: "congenital infection caused by enterovirus" EXACT [] synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292] -xref: ICD10CM:P35.8 {source="ORDO:292/ntbt", source="Orphanet:292"} +xref: ICD10CM:P35.8 {source="Orphanet:292", source="Orphanet:292/ntbt"} xref: Orphanet:292 {source="MONDO:equivalentTo"} xref: SCTID:716865000 {source="MONDO:equivalentTo"} xref: UMLS:C4274223 {source="MONDO:equivalentTo"} @@ -337848,14 +337689,14 @@ xref: ICD10CM:M02.1 {source="DOID:6196"} xref: ICD10CM:M02.10 {source="DOID:6196"} xref: ICD10CM:M02.3 {source="DOID:6196", source="Orphanet:29207"} xref: ICD10CM:M02.30 {source="DOID:6196"} -xref: ICD10CM:M02.8 {source="ORDO:29207/e"} +xref: ICD10CM:M02.8 {source="Orphanet:29207/e"} xref: ICD9:099.3 {source="DOID:6196"} xref: ICD9:711.3 {source="DOID:6196"} xref: ICD9:711.30 {source="DOID:6196"} xref: ICD9:711.40 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10003267 {source="ORDO:29207/e", source="Orphanet:29207"} -xref: MedDRA:10038294 {source="ORDO:29207/e", source="Orphanet:29207"} -xref: MESH:D016918 {source="MONDO:equivalentTo", source="DOID:6196", source="ORDO:29207/e", source="EFO:0007460", source="Orphanet:29207"} +xref: MedDRA:10003267 {source="Orphanet:29207/e", source="Orphanet:29207"} +xref: MedDRA:10038294 {source="Orphanet:29207/e", source="Orphanet:29207"} +xref: MESH:D016918 {source="Orphanet:29207/e", source="MONDO:equivalentTo", source="DOID:6196", source="EFO:0007460", source="Orphanet:29207"} xref: NCIT:C128332 {source="MONDO:equivalentTo"} xref: NCIT:C34975 {source="DOID:6196"} xref: Orphanet:29207 {source="MONDO:equivalentTo"} @@ -337867,8 +337708,8 @@ xref: SCTID:201506009 {source="DOID:6196"} xref: SCTID:266212009 {source="DOID:6196"} xref: SCTID:56528004 {source="DOID:6196"} xref: SCTID:67224007 {source="DOID:6196"} -xref: UMLS:C0035012 {source="MONDO:equivalentTo", source="DOID:6196", source="ORDO:29207/e", source="Orphanet:29207"} -xref: UMLS:C0085435 {source="NCIT:C128332", source="MONDO:equivalentTo", source="ORDO:29207/e", source="Orphanet:29207"} +xref: UMLS:C0035012 {source="Orphanet:29207/e", source="MONDO:equivalentTo", source="DOID:6196", source="Orphanet:29207"} +xref: UMLS:C0085435 {source="NCIT:C128332", source="Orphanet:29207/e", source="MONDO:equivalentTo", source="Orphanet:29207"} xref: UMLS:C0152085 {source="MONDO:notFoundInDiseaseSubset", source="DOID:6196"} xref: UMLS:CN203069 {source="MONDO:equivalentTo"} is_a: MONDO:0005554 {source="Orphanet:29207"} ! rheumatic disorder @@ -337886,11 +337727,11 @@ synonym: "Pfeiffer-Mayer syndrome" EXACT [Orphanet:2921] synonym: "short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities" RELATED [GARD:0004304] synonym: "short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities" RELATED DEPRECATED [GARD:0004304] xref: GARD:0004304 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:2921/attributed", source="ORDO:2921/ntbt", source="Orphanet:2921"} +xref: ICD10CM:Q87.2 {source="Orphanet:2921", source="Orphanet:2921/attributed", source="Orphanet:2921/ntbt"} xref: MESH:C537888 {source="MONDO:equivalentTo"} xref: Orphanet:2921 {source="MONDO:equivalentTo"} xref: SCTID:733088002 {source="MONDO:equivalentTo"} -xref: UMLS:C2931655 {source="MONDO:equivalentTo", source="ORDO:2921/e", source="Orphanet:2921"} +xref: UMLS:C2931655 {source="MONDO:equivalentTo", source="Orphanet:2921", source="Orphanet:2921/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2921", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:2921"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -337899,7 +337740,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO: id: MONDO:0017378 name: obsolete polymicrogyria-turricephaly-hypogenitalism syndrome comment: Obsolete in Orphanet -xref: ICD10CM:Q87.8 {source="ORDO:2925/attributed", source="ORDO:2925/ntbt", source="Orphanet:2925"} +xref: ICD10CM:Q87.8 {source="Orphanet:2925/attributed", source="Orphanet:2925/ntbt", source="Orphanet:2925"} xref: Orphanet:2925 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227120 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -337916,7 +337757,7 @@ synonym: "polyneuropathy - intellectual deficit - acromicria - premature menopau synonym: "polyneuropathy intellectual disability acromicria premature menopause" RELATED [GARD:0004424] synonym: "polyneuropathy mental retardation acromicria premature menopause" RELATED DEPRECATED [GARD:0004424] xref: GARD:0004424 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2928/attributed", source="ORDO:2928/ntbt", source="Orphanet:2928"} +xref: ICD10CM:Q87.8 {source="Orphanet:2928/attributed", source="Orphanet:2928/ntbt", source="Orphanet:2928"} xref: Orphanet:2928 {source="MONDO:equivalentTo"} xref: UMLS:CN203094 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:2928"} ! syndromic intellectual disability @@ -337940,11 +337781,11 @@ synonym: "polyposis familial of entire gastrointestinal tract" RELATED [GARD:000 synonym: "polyposis juvenile intestinal" RELATED [GARD:0003065] synonym: "polyposis, juvenile intestinal" EXACT [OMIM:174900, OMIM:genemap2] xref: GARD:0003065 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D12.6 {source="Orphanet:2929", source="ORDO:2929/attributed", source="ORDO:2929/ntbt"} +xref: ICD10CM:D12.6 {source="Orphanet:2929", source="Orphanet:2929/attributed", source="Orphanet:2929/ntbt"} xref: NCIT:C7754 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:174900 {source="Orphanet:2929", source="MONDO:equivalentTo", source="ORDO:2929/btnt"} -xref: OMIM:175050 {source="Orphanet:2929", source="MONDO:superClassOf", source="ORDO:2929/btnt"} -xref: OMIM:612242 {source="Orphanet:2929", source="MONDO:relatedTo", source="MONDO:superClassOf", source="ORDO:2929/ntbt"} +xref: OMIM:174900 {source="Orphanet:2929", source="Orphanet:2929/btnt", source="MONDO:equivalentTo"} +xref: OMIM:175050 {source="Orphanet:2929", source="Orphanet:2929/btnt", source="MONDO:superClassOf"} +xref: OMIM:612242 {source="Orphanet:2929", source="MONDO:relatedTo", source="Orphanet:2929/ntbt", source="MONDO:superClassOf"} xref: Orphanet:2929 {source="MONDO:equivalentTo"} xref: SCTID:9273005 {source="MONDO:equivalentTo"} xref: UMLS:C0345893 {source="Orphanet:2929", source="MONDO:equivalentTo", source="NCIT:C7754", source="MONDO:notFoundInDiseaseSubset"} @@ -337974,7 +337815,7 @@ synonym: "Simplexvirus caused infectious embryofetopathy" EXACT [MONDO:patterns/ synonym: "Simplexvirus infectious embryofetopathy" EXACT [] xref: GARD:0001486 {source="MONDO:equivalentTo"} xref: GARD:0007173 {source="MONDO:equivalentTo"} -xref: ICD10CM:P35.2 {source="ORDO:293/ntbt", source="Orphanet:293"} +xref: ICD10CM:P35.2 {source="Orphanet:293", source="Orphanet:293/ntbt"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:293 {source="MONDO:equivalentTo"} xref: SCTID:91576008 {source="MONDO:equivalentTo"} @@ -337993,8 +337834,8 @@ id: MONDO:0017382 name: familial clubfoot due to 5q31 microdeletion subset: ordo_etiological_subtype {source="Orphanet:293144"} synonym: "hereditary clubfoot due to 5q31 microdeletion" EXACT [Orphanet:293144] -xref: ICD10CM:Q66.8 {source="ORDO:293144/attributed", source="ORDO:293144/ntbt", source="Orphanet:293144"} -xref: OMIM:119800 {source="MONDO:subClassOf", source="ORDO:293144/ntbt", source="Orphanet:293144"} +xref: ICD10CM:Q66.8 {source="Orphanet:293144", source="Orphanet:293144/attributed", source="Orphanet:293144/ntbt"} +xref: OMIM:119800 {source="MONDO:subClassOf", source="Orphanet:293144", source="Orphanet:293144/ntbt"} xref: Orphanet:293144 {source="MONDO:equivalentTo"} xref: UMLS:CN203109 {source="MONDO:equivalentTo"} is_a: MONDO:0007342 ! clubfoot @@ -338005,8 +337846,8 @@ id: MONDO:0017383 name: familial clubfoot due to PITX1 point mutation subset: ordo_etiological_subtype {source="Orphanet:293150"} synonym: "hereditary clubfoot due to PITX1 point mutation" EXACT [Orphanet:293150] -xref: ICD10CM:Q66.8 {source="Orphanet:293150", source="ORDO:293150/attributed", source="ORDO:293150/ntbt"} -xref: OMIM:119800 {source="MONDO:subClassOf", source="Orphanet:293150", source="ORDO:293150/ntbt"} +xref: ICD10CM:Q66.8 {source="Orphanet:293150/attributed", source="Orphanet:293150/ntbt", source="Orphanet:293150"} +xref: OMIM:119800 {source="MONDO:subClassOf", source="Orphanet:293150/ntbt", source="Orphanet:293150"} xref: Orphanet:293150 {source="MONDO:equivalentTo"} xref: UMLS:CN203110 {source="MONDO:equivalentTo"} is_a: MONDO:0007342 ! clubfoot @@ -338023,13 +337864,13 @@ synonym: "AGEP" EXACT ABBREVIATION [Orphanet:293173] synonym: "pustular drug eruption" EXACT [Orphanet:293173] synonym: "toxic pustuloderma" EXACT [Orphanet:293173] xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048799 {source="Orphanet:293173", source="ORDO:293173/e"} +xref: MedDRA:10048799 {source="Orphanet:293173", source="Orphanet:293173/e"} xref: MESH:D056150 {source="MONDO:equivalentTo"} xref: NCIT:C112122 {source="MONDO:equivalentTo"} xref: Orphanet:293173 {source="MONDO:equivalentTo"} xref: SCTID:702617007 {source="MONDO:equivalentTo"} xref: UMLS:C0853331 {source="Orphanet:293173", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0877055 {source="Orphanet:293173", source="ORDO:293173/e", source="MONDO:equivalentTo", source="NCIT:C112122"} +xref: UMLS:C0877055 {source="Orphanet:293173", source="MONDO:equivalentTo", source="NCIT:C112122", source="Orphanet:293173/e"} is_a: MONDO:0002406 {source="MESH:D056150/inferred", source="NCIT:C112122"} ! dermatitis is_a: MONDO:0017396 {source="Orphanet:293173"} ! toxic dermatosis @@ -338049,10 +337890,10 @@ synonym: "MPEI" EXACT ABBREVIATION [Orphanet:293181] synonym: "MPSI" BROAD ABBREVIATION [Orphanet:293181] xref: GARD:0012919 {source="MONDO:equivalentTo"} xref: NCIT:C125387 {source="MONDO:equivalentTo"} -xref: OMIM:613722 {source="Orphanet:293181", source="MONDO:superClassOf", source="ORDO:293181/btnt"} -xref: OMIM:614959 {source="Orphanet:293181", source="MONDO:superClassOf", source="ORDO:293181/btnt"} -xref: OMIM:615338 {source="Orphanet:293181", source="MONDO:superClassOf", source="ORDO:293181/btnt"} -xref: OMIM:616645 {source="Orphanet:293181", source="MONDO:superClassOf", source="ORDO:293181/btnt"} +xref: OMIM:613722 {source="Orphanet:293181", source="Orphanet:293181/btnt", source="MONDO:superClassOf"} +xref: OMIM:614959 {source="Orphanet:293181", source="Orphanet:293181/btnt", source="MONDO:superClassOf"} +xref: OMIM:615338 {source="Orphanet:293181", source="Orphanet:293181/btnt", source="MONDO:superClassOf"} +xref: OMIM:616645 {source="Orphanet:293181", source="Orphanet:293181/btnt", source="MONDO:superClassOf"} xref: Orphanet:293181 {source="MONDO:equivalentTo"} xref: UMLS:CN203114 {source="MONDO:equivalentTo"} xref: UMLS:CN240507 {source="MONDO:equivalentTo"} @@ -338068,14 +337909,14 @@ synonym: "anaplastic rhabdomyosarcoma" EXACT [DOID:3250, NCIT:C4258] synonym: "pleomorphic rhabdomyosarcoma" EXACT [NCIT:C4258] synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT [DOID:3250] xref: DOID:3250 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:293199/ntbt", source="Orphanet:293199"} +xref: ICD10CM:C49.9 {source="Orphanet:293199", source="Orphanet:293199/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C4258 {source="MONDO:equivalentTo", source="DOID:3250", source="exact-label-match"} xref: ONCOTREE:PLRMS {source="MONDO:equivalentTo"} xref: Orphanet:293199 {source="MONDO:equivalentTo"} xref: SCTID:404054005 {source="MONDO:equivalentTo", source="DOID:3250"} xref: SCTID:77455004 {source="DOID:3250"} -xref: UMLS:C0334480 {source="MONDO:equivalentTo", source="Orphanet:293199", source="ORDO:293199/e", source="NCIT:C4258", source="DOID:3250"} +xref: UMLS:C0334480 {source="MONDO:equivalentTo", source="Orphanet:293199", source="NCIT:C4258", source="DOID:3250", source="Orphanet:293199/e"} is_a: MONDO:0005212 {source="DOID:3250", source="NCIT:C4258", source="ONCOTREE:PLRMS", source="linkedlifedata"} ! rhabdomyosarcoma [Term] @@ -338089,15 +337930,15 @@ synonym: "epithelioid sarcoma" EXACT [NCIT:C3714] synonym: "ES" EXACT ABBREVIATION [NCIT:C3714] xref: DOID:6193 {source="MONDO:equivalentTo"} xref: GARD:0010181 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:293202/ntbt", source="Orphanet:293202"} +xref: ICD10CM:C49.9 {source="Orphanet:293202/ntbt", source="Orphanet:293202"} xref: ICDO:8804/3 {source="NCIT:C3714"} -xref: MedDRA:10015099 {source="ORDO:293202/e", source="Orphanet:293202"} +xref: MedDRA:10015099 {source="Orphanet:293202/e", source="Orphanet:293202"} xref: MESH:D012509 {source="MONDO:subClassOf", source="DOID:6193"} xref: NCIT:C3714 {source="MONDO:equivalentTo", source="DOID:6193"} xref: ONCOTREE:EPIS {source="MONDO:equivalentTo"} xref: Orphanet:293202 {source="MONDO:equivalentTo"} xref: SCTID:59238007 {source="DOID:6193"} -xref: UMLS:C0205944 {source="MONDO:equivalentTo", source="ORDO:293202/e", source="DOID:6193", source="Orphanet:293202", source="NCIT:C3714"} +xref: UMLS:C0205944 {source="Orphanet:293202/e", source="MONDO:equivalentTo", source="DOID:6193", source="Orphanet:293202", source="NCIT:C3714"} is_a: MONDO:0018078 {source="NCIT:C3714", source="Orphanet:293202"} ! soft tissue sarcoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma xsd:anyURI {source="GARD:0010181"} @@ -338107,7 +337948,7 @@ name: celiac trunk compression syndrome def: "A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation." [Orphanet:293208] subset: ordo_disease {source="Orphanet:293208"} synonym: "Dunbar syndrome" EXACT [Orphanet:293208] -xref: ICD10CM:I77.4 {source="Orphanet:293208", source="ORDO:293208/e"} +xref: ICD10CM:I77.4 {source="Orphanet:293208", source="Orphanet:293208/e"} xref: Orphanet:293208 {source="MONDO:equivalentTo"} xref: UMLS:CN203119 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease or disorder @@ -338123,7 +337964,7 @@ subset: ordo_clinical_subtype {source="Orphanet:293284"} synonym: "BH4-responsive HPA/PKU" EXACT [Orphanet:293284] synonym: "BH4-responsive hyperphenylalaninemia/phenylketonuria" EXACT [Orphanet:293284] synonym: "tetrahydrobiopterin-responsive HPA/PKU" EXACT [Orphanet:293284] -xref: ICD10CM:E70.1 {source="Orphanet:293284", source="ORDO:293284/attributed", source="ORDO:293284/ntbt"} +xref: ICD10CM:E70.1 {source="Orphanet:293284/attributed", source="Orphanet:293284/ntbt", source="Orphanet:293284"} xref: Orphanet:293284 {source="MONDO:equivalentTo"} is_a: MONDO:0009861 {source="Orphanet:293284"} ! phenylketonuria relationship: disease_responds_to CHEBI:59560 ! sapropterin @@ -338137,7 +337978,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:293355"} synonym: "methylmalonic acidemia without homocystinuria" EXACT CLINGEN_PREFERRED [] synonym: "methylmalonic aciduria without homocystinuria" EXACT [Orphanet:293355] -xref: ICD10CM:E71.1 {source="ORDO:293355/attributed", source="ORDO:293355/ntbt", source="Orphanet:293355"} +xref: ICD10CM:E71.1 {source="Orphanet:293355", source="Orphanet:293355/attributed", source="Orphanet:293355/ntbt"} xref: Orphanet:293355 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -338150,7 +337991,7 @@ name: Grayson-Wilbrandt corneal dystrophy def: "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." [Orphanet:293375] subset: ordo_disease {source="Orphanet:293375"} synonym: "GWCD" EXACT ABBREVIATION [Orphanet:293375] -xref: ICD10CM:H18.5 {source="ORDO:293375/attributed", source="ORDO:293375/ntbt", source="Orphanet:293375"} +xref: ICD10CM:H18.5 {source="Orphanet:293375", source="Orphanet:293375/attributed", source="Orphanet:293375/ntbt"} xref: Orphanet:293375 {source="MONDO:equivalentTo"} xref: SCTID:717286002 {source="MONDO:equivalentTo"} is_a: MONDO:0020212 {source="Orphanet:293375"} ! superficial corneal dystrophy @@ -338162,11 +338003,11 @@ name: pre-descemet corneal dystrophy def: "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." [Orphanet:293462] subset: ordo_disease {source="Orphanet:293462"} synonym: "PDCD" EXACT ABBREVIATION [Orphanet:293462] -xref: ICD10CM:H18.5 {source="ORDO:293462/attributed", source="ORDO:293462/ntbt", source="Orphanet:293462"} +xref: ICD10CM:H18.5 {source="Orphanet:293462", source="Orphanet:293462/attributed", source="Orphanet:293462/ntbt"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:293462 {source="MONDO:equivalentTo"} xref: SCTID:231934009 {source="MONDO:equivalentTo"} -xref: UMLS:C0339282 {source="ORDO:293462/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:293462"} +xref: UMLS:C0339282 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:293462", source="Orphanet:293462/e"} is_a: MONDO:0020213 {source="Orphanet:293462", source="linkedlifedata"} ! stromal corneal dystrophy [Term] @@ -338206,10 +338047,10 @@ id: MONDO:0017395 name: fixed pigmented erythema subset: ordo_disease {source="Orphanet:293812"} synonym: "fixed drug eruption" EXACT [Orphanet:293812, PMID:9431719] -xref: MedDRA:10048796 {source="Orphanet:293812", source="ORDO:293812/e"} +xref: MedDRA:10048796 {source="Orphanet:293812/e", source="Orphanet:293812"} xref: Orphanet:293812 {source="MONDO:equivalentTo"} xref: SCTID:73692007 {source="MONDO:equivalentTo"} -xref: UMLS:C0877391 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:293812", source="ORDO:293812/e"} +xref: UMLS:C0877391 {source="Orphanet:293812/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:293812"} is_a: MONDO:0017396 {source="Orphanet:293812"} ! toxic dermatosis relationship: disease_has_feature HP:0010783 ! Erythema @@ -338227,7 +338068,7 @@ id: MONDO:0017397 name: constitutional dyserythropoietic anemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:293830"} -xref: ICD10CM:D64.4 {source="ORDO:293830/attributed", source="ORDO:293830/ntbt", source="MONDO:superClassOf", source="Orphanet:293830"} +xref: ICD10CM:D64.4 {source="MONDO:superClassOf", source="Orphanet:293830", source="Orphanet:293830/attributed", source="Orphanet:293830/ntbt"} xref: Orphanet:293830 {source="MONDO:equivalentTo"} is_a: MONDO:0002280 {source="Orphanet:293830"} ! anemia relationship: has_modifier MONDO:0021136 {source="MONDO:0015972"} ! rare @@ -338243,10 +338084,10 @@ synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT [Orphanet:293843 synonym: "oculopalatoskeletal syndrome" EXACT [DOID:0060225] xref: DOID:0060225 {source="MONDO:equivalentTo"} xref: GARD:0001118 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="DOID:0060225", source="Orphanet:293843", source="ORDO:293843/attributed", source="ORDO:293843/ntbt"} -xref: OMIM:248340 {source="DOID:0060225", source="MONDO:superClassOf", source="Orphanet:293843", source="ORDO:293843/btnt"} -xref: OMIM:257920 {source="MONDO:superClassOf", source="Orphanet:293843", source="ORDO:293843/btnt"} -xref: OMIM:265050 {source="DOID:0060225", source="MONDO:superClassOf", source="Orphanet:293843", source="ORDO:293843/btnt"} +xref: ICD10CM:Q87.8 {source="DOID:0060225", source="Orphanet:293843/attributed", source="Orphanet:293843/ntbt", source="Orphanet:293843"} +xref: OMIM:248340 {source="DOID:0060225", source="MONDO:superClassOf", source="Orphanet:293843/btnt", source="Orphanet:293843"} +xref: OMIM:257920 {source="MONDO:superClassOf", source="Orphanet:293843/btnt", source="Orphanet:293843"} +xref: OMIM:265050 {source="DOID:0060225", source="MONDO:superClassOf", source="Orphanet:293843/btnt", source="Orphanet:293843"} xref: OMIMPS:257920 {source="MONDO:equivalentTo", source="DOID:0060225"} xref: Orphanet:293843 {source="MONDO:equivalentTo", source="DOID:0060225"} xref: SCTID:720756005 {source="MONDO:equivalentTo"} @@ -338265,7 +338106,7 @@ def: "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotempor subset: ordo_disease {source="Orphanet:293848"} synonym: "RTLA" EXACT ABBREVIATION [Orphanet:293848] synonym: "rvFTD" EXACT [Orphanet:293848] -xref: ICD10CM:G31.0 {source="Orphanet:293848", source="ORDO:293848/attributed", source="ORDO:293848/ntbt"} +xref: ICD10CM:G31.0 {source="Orphanet:293848/attributed", source="Orphanet:293848/ntbt", source="Orphanet:293848"} xref: OMIM:600274 {source="MONDO:subClassOf", source="Orphanet:293848"} xref: Orphanet:293848 {source="MONDO:equivalentTo"} xref: SCTID:716667005 {source="MONDO:equivalentTo"} @@ -338283,8 +338124,8 @@ synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrom synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" RELATED [Orphanet:293864] synonym: "Mitchell-Riley syndrome" EXACT [MONDO:Lexical, OMIM:615710] synonym: "MTCHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615710] -xref: ICD10CM:Q45.8 {source="ORDO:293864/attributed", source="ORDO:293864/ntbt", source="Orphanet:293864"} -xref: OMIM:615710 {source="ORDO:293864/btnt", source="MONDO:equivalentTo", source="Orphanet:293864"} +xref: ICD10CM:Q45.8 {source="Orphanet:293864/attributed", source="Orphanet:293864/ntbt", source="Orphanet:293864"} +xref: OMIM:615710 {source="MONDO:equivalentTo", source="Orphanet:293864/btnt", source="Orphanet:293864"} xref: Orphanet:293864 {source="OMIM:615710", source="MONDO:equivalentTo"} xref: UMLS:C2748662 {source="OMIM:615710", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:293864"} is_a: MONDO:0015212 {source="Orphanet:293864"} ! syndromic intestinal malformation @@ -338297,7 +338138,7 @@ id: MONDO:0017401 name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form subset: ordo_clinical_subtype {source="Orphanet:293888"} synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" EXACT [Orphanet:293888] -xref: ICD10CM:I42.8 {source="ORDO:293888/attributed", source="ORDO:293888/ntbt", source="Orphanet:293888"} +xref: ICD10CM:I42.8 {source="Orphanet:293888/attributed", source="Orphanet:293888/ntbt", source="Orphanet:293888"} xref: OMIM:107970 {source="MONDO:superClassOf", source="Orphanet:293888"} xref: OMIM:610193 {source="MONDO:superClassOf", source="Orphanet:293888"} xref: Orphanet:293888 {source="MONDO:equivalentTo"} @@ -338309,7 +338150,7 @@ id: MONDO:0017402 name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form subset: ordo_clinical_subtype {source="Orphanet:293899"} synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" EXACT [Orphanet:293899] -xref: ICD10CM:I42.8 {source="ORDO:293899/attributed", source="ORDO:293899/ntbt", source="Orphanet:293899"} +xref: ICD10CM:I42.8 {source="Orphanet:293899/attributed", source="Orphanet:293899/ntbt", source="Orphanet:293899"} xref: OMIM:107970 {source="MONDO:superClassOf", source="Orphanet:293899"} xref: OMIM:610193 {source="MONDO:superClassOf", source="Orphanet:293899"} xref: Orphanet:293899 {source="MONDO:equivalentTo"} @@ -338323,7 +338164,7 @@ subset: ordo_clinical_subtype {source="Orphanet:293910"} synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" EXACT [Orphanet:293910] synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" EXACT [Orphanet:293910] synonym: "familial isolated arrhythmogenic ventricular dysplasia, classic form" EXACT [Orphanet:293910] -xref: ICD10CM:I42.8 {source="ORDO:293910/attributed", source="ORDO:293910/ntbt", source="Orphanet:293910"} +xref: ICD10CM:I42.8 {source="Orphanet:293910/attributed", source="Orphanet:293910/ntbt", source="Orphanet:293910"} xref: OMIM:107970 {source="MONDO:superClassOf", source="Orphanet:293910"} xref: OMIM:610193 {source="MONDO:superClassOf", source="Orphanet:293910"} xref: Orphanet:293910 {source="MONDO:equivalentTo"} @@ -338337,7 +338178,7 @@ def: "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic int subset: ordo_malformation_syndrome {source="Orphanet:293939"} synonym: "distal dup(X)q(28)" EXACT [Orphanet:293939] synonym: "distal trisomy Xq28" EXACT [Orphanet:293939] -xref: ICD10CM:Q99.8 {source="Orphanet:293939", source="ORDO:293939/attributed", source="ORDO:293939/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:293939/attributed", source="Orphanet:293939/ntbt", source="Orphanet:293939"} xref: Orphanet:293939 {source="MONDO:equivalentTo"} xref: UMLS:CN203151 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293939"} ! syndromic intellectual disability @@ -338355,7 +338196,7 @@ def: "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly cha subset: ordo_malformation_syndrome {source="Orphanet:293948"} synonym: "Del(1)p(21.3)" EXACT [Orphanet:293948] synonym: "monosomy 1p21.3" EXACT [Orphanet:293948] -xref: ICD10CM:Q93.5 {source="Orphanet:293948", source="ORDO:293948/attributed", source="ORDO:293948/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:293948", source="Orphanet:293948/attributed", source="Orphanet:293948/ntbt"} xref: Orphanet:293948 {source="MONDO:equivalentTo"} xref: SCTID:719600006 {source="MONDO:equivalentTo"} xref: UMLS:C4304578 {source="MONDO:equivalentTo"} @@ -338386,7 +338227,7 @@ id: MONDO:0017407 name: deficiency in anterior pituitary function - variable immunodeficiency syndrome subset: ordo_disease {source="Orphanet:293978"} synonym: "David syndrome" EXACT [Orphanet:293978] -xref: OMIM:615577 {source="MONDO:subClassOf", source="Orphanet:293978", source="ORDO:293978/ntbt"} +xref: OMIM:615577 {source="MONDO:subClassOf", source="Orphanet:293978", source="Orphanet:293978/ntbt"} xref: Orphanet:293978 {source="MONDO:equivalentTo"} is_a: MONDO:0014260 ! immunodeficiency, common variable, 10 is_a: MONDO:0015132 {source="MONDO:0018041-obsoleted"} ! immunodeficiency predominantly affecting antibody production @@ -338426,12 +338267,12 @@ synonym: "congenital cytomegalovirus" RELATED [GARD:0001480] synonym: "mother-to-child transmission of cytomegalovirus syndrome" EXACT [Orphanet:294] xref: GARD:0001409 {source="MONDO:equivalentTo"} xref: GARD:0001480 {source="MONDO:equivalentTo"} -xref: ICD10CM:P35.1 {source="ORDO:294/e", source="Orphanet:294"} +xref: ICD10CM:P35.1 {source="Orphanet:294", source="Orphanet:294/e"} xref: NCIT:C122427 {source="MONDO:equivalentTo"} xref: Orphanet:294 {source="MONDO:equivalentTo", source="GARD:0001480"} xref: SCTID:276701009 {source="MONDO:equivalentTo"} xref: UMLS:C0158945 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0001480"} -xref: UMLS:C0349499 {source="MONDO:equivalentTo", source="ORDO:294/e", source="Orphanet:294"} +xref: UMLS:C0349499 {source="MONDO:equivalentTo", source="Orphanet:294", source="Orphanet:294/e"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0005132 {source="MONDO:cjm", source="NCIT:C122427", source="linkedlifedata"} ! cytomegalovirus infection is_a: MONDO:0016511 {source="Orphanet:294"} ! infectious embryofetopathy @@ -338449,10 +338290,10 @@ subset: ordo_disease {source="Orphanet:2940"} xref: DOID:0060263 {source="MONDO:equivalentTo"} xref: GARD:0007430 {source="MONDO:equivalentTo"} xref: HP:0002132 {source="DOID:0060263", source="MONDO:otherHierarchy"} -xref: ICD10CM:Q04.6 {source="ORDO:2940/index", source="DOID:0060263", source="Orphanet:2940", source="ORDO:2940/ntbt"} -xref: MedDRA:10036172 {source="Orphanet:2940", source="ORDO:2940/e"} +xref: ICD10CM:Q04.6 {source="DOID:0060263", source="Orphanet:2940/ntbt", source="Orphanet:2940", source="Orphanet:2940/index"} +xref: MedDRA:10036172 {source="Orphanet:2940", source="Orphanet:2940/e"} xref: MESH:D065708 {source="DOID:0060263", source="MONDO:equivalentTo"} -xref: OMIM:175780 {source="DOID:0060263", source="Orphanet:2940", source="ORDO:2940/btnt", source="MONDO:superClassOf"} +xref: OMIM:175780 {source="DOID:0060263", source="Orphanet:2940/btnt", source="Orphanet:2940", source="MONDO:superClassOf"} xref: Orphanet:2940 {source="DOID:0060263", source="MONDO:equivalentTo"} xref: SCTID:204071008 {source="DOID:0060263"} xref: SCTID:38353004 {source="DOID:0060263"} @@ -338471,8 +338312,8 @@ name: neonatal inflammatory skin and bowel disease def: "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." [Orphanet:294023] subset: ordo_disease {source="Orphanet:294023"} synonym: "inflammatory skin and bowel disease, neonatal" EXACT [MONDO:0000180] -xref: OMIM:614328 {source="MONDO:superClassOf", source="ORDO:294023/btnt", source="Orphanet:294023"} -xref: OMIM:616069 {source="MONDO:superClassOf", source="ORDO:294023/btnt", source="Orphanet:294023"} +xref: OMIM:614328 {source="MONDO:superClassOf", source="Orphanet:294023", source="Orphanet:294023/btnt"} +xref: OMIM:616069 {source="MONDO:superClassOf", source="Orphanet:294023", source="Orphanet:294023/btnt"} xref: OMIMPS:614328 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="MONDO:equivalentTo"} xref: UMLS:CN228266 {source="MONDO:equivalentTo"} @@ -338500,7 +338341,7 @@ subset: ordo_disease {source="Orphanet:294049"} synonym: "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" EXACT [Orphanet:294049] synonym: "RLS" EXACT ABBREVIATION [Orphanet:294049] xref: EFO:0002319 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.8 {source="ORDO:294049/attributed", source="ORDO:294049/ntbt", source="Orphanet:294049"} +xref: ICD10CM:Q74.8 {source="Orphanet:294049/attributed", source="Orphanet:294049/ntbt", source="Orphanet:294049"} xref: Orphanet:294049 {source="MONDO:equivalentTo"} xref: UMLS:CN203163 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="Orphanet:294049"} ! disorder of multiple glycosylation @@ -338528,7 +338369,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294060"} synonym: "pterygium syndrome" RELATED [MESH:C537377] xref: DOID:0080110 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.8 {source="ORDO:294060/attributed", source="ORDO:294060/ntbt", source="Orphanet:294060"} +xref: ICD10CM:Q79.8 {source="Orphanet:294060/attributed", source="Orphanet:294060/ntbt", source="Orphanet:294060"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537377 {source="MONDO:equivalentTo"} xref: OMIM:178110 {source="DOID:0080110", source="MONDO:superClassOf"} @@ -338537,7 +338378,7 @@ xref: OMIM:265000 {source="DOID:0080110", source="MONDO:superClassOf"} xref: OMIM:312150 {source="DOID:0080110", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:294060 {source="MONDO:equivalentTo"} xref: SCTID:205819008 {source="MONDO:equivalentTo"} -xref: UMLS:C0265261 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294060", source="ORDO:294060/e"} +xref: UMLS:C0265261 {source="Orphanet:294060/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294060"} is_a: MONDO:0015225 {source="Orphanet:294060"} ! arthrogryposis syndrome [Term] @@ -338559,7 +338400,7 @@ xref: DOID:4952 {source="MONDO:equivalentTo", source="EFO:0007454"} xref: EFO:0007454 {source="MONDO:equivalentTo"} xref: GARD:0004454 {source="MONDO:equivalentTo"} xref: ICD10CM:G10-G14 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:G14 {source="DOID:4952", source="Orphanet:2942", source="ORDO:2942/e"} +xref: ICD10CM:G14 {source="DOID:4952", source="Orphanet:2942", source="Orphanet:2942/e"} xref: MESH:D016262 {source="DOID:4952", source="MONDO:equivalentTo", source="EFO:0007454"} xref: Orphanet:2942 {source="MONDO:equivalentTo"} xref: SCTID:31097004 {source="DOID:4952", source="MONDO:equivalentTo"} @@ -338580,8 +338421,8 @@ synonym: "Ivemark II syndrome" EXACT [Orphanet:294415] synonym: "Ivemark's syndrome" EXACT [DOID:0060259] synonym: "Renohepaticopancreatic dysplasia" EXACT [Orphanet:294415] xref: DOID:0060259 {source="MONDO:equivalentTo"} -xref: OMIM:208540 {source="DOID:0060259", source="MONDO:superClassOf", source="Orphanet:294415", source="ORDO:294415/btnt"} -xref: OMIM:615415 {source="DOID:0060259", source="MONDO:superClassOf", source="Orphanet:294415", source="ORDO:294415/btnt"} +xref: OMIM:208540 {source="DOID:0060259", source="MONDO:superClassOf", source="Orphanet:294415/btnt", source="Orphanet:294415"} +xref: OMIM:615415 {source="DOID:0060259", source="MONDO:superClassOf", source="Orphanet:294415/btnt", source="Orphanet:294415"} xref: OMIMPS:208540 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:294415 {source="DOID:0060259", source="MONDO:equivalentTo"} xref: SCTID:763891005 {source="MONDO:equivalentTo"} @@ -338613,12 +338454,12 @@ synonym: "amelia" BROAD [MONDO:ambiguous] synonym: "isolated amelia" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic amelia" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0009827 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q73.0 {source="Orphanet:294925", source="ORDO:294925/e", source="ORDO:294925/specific"} -xref: MedDRA:10001926 {source="Orphanet:294925", source="ORDO:294925/e"} +xref: ICD10CM:Q73.0 {source="Orphanet:294925", source="Orphanet:294925/e", source="Orphanet:294925/specific"} +xref: MedDRA:10001926 {source="Orphanet:294925", source="Orphanet:294925/e"} xref: NCIT:C34370 {source="MONDO:equivalentTo"} xref: Orphanet:294925 {source="MONDO:equivalentTo"} xref: SCTID:62588002 {source="MONDO:equivalentTo"} -xref: UMLS:C0002447 {source="Orphanet:294925", source="ORDO:294925/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0002447 {source="Orphanet:294925", source="Orphanet:294925/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019713 {source="MONDO:Redundant", source="Orphanet:294925", source="Orphanet:294925/inferred"} ! non-syndromic limb reduction defect intersection_of: MONDO:0019713 ! non-syndromic limb reduction defect intersection_of: disease_has_feature HP:0009827 ! Amelia @@ -338650,7 +338491,7 @@ name: adactyly of hand subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294931"} synonym: "fingers absent" EXACT [Orphanet:294931] -xref: ICD10CM:Q71.3 {source="ORDO:294931/attributed", source="ORDO:294931/ntbt", source="Orphanet:294931"} +xref: ICD10CM:Q71.3 {source="Orphanet:294931/attributed", source="Orphanet:294931/ntbt", source="Orphanet:294931"} xref: Orphanet:294931 {source="MONDO:equivalentTo"} xref: UMLS:C0728895 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294931"} is_a: MONDO:0017421 {source="Orphanet:294931"} ! non-syndromic terminal limb defects @@ -338661,8 +338502,8 @@ name: split hand or/and split foot malformation comment: Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss) subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294935"} -xref: ICD10CM:Q71.6 {source="Orphanet:294935", source="ORDO:294935/attributed", source="ORDO:294935/btnt"} -xref: ICD10CM:Q72.7 {source="Orphanet:294935", source="ORDO:294935/attributed", source="ORDO:294935/btnt"} +xref: ICD10CM:Q71.6 {source="Orphanet:294935", source="Orphanet:294935/attributed", source="Orphanet:294935/btnt"} +xref: ICD10CM:Q72.7 {source="Orphanet:294935", source="Orphanet:294935/attributed", source="Orphanet:294935/btnt"} xref: Orphanet:294935 {source="MONDO:equivalentTo"} is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis relationship: disease_has_feature HP:0100257 ! Ectrodactyly @@ -338679,7 +338520,7 @@ synonym: "isolated brachydactyly" RELATED [https://orcid.org/0000-0002-6601-2165 synonym: "nonsyndromic brachydactyly" EXACT [https://orcid.org/0000-0002-6601-2165] xref: Orphanet:294937 {source="MONDO:equivalentTo", source="DOID:0050581"} xref: SCTID:43476002 {source="MONDO:equivalentTo"} -xref: UMLS:C0221357 {source="ORDO:294937/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0221357 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294937/e"} is_a: MONDO:0017421 {source="Orphanet:294937"} ! non-syndromic terminal limb defects is_a: MONDO:0021004 ! brachydactyly relationship: disease_has_feature HP:0001156 ! Brachydactyly @@ -338693,7 +338534,7 @@ subset: gard_rare {source="GARD:0012767"} subset: ordo_group_of_disorders {source="Orphanet:294939"} synonym: "preaxial polydactyly of hand" EXACT [Orphanet:294939] xref: GARD:0012767 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q69.1 {source="Orphanet:294939", source="ORDO:294939/attributed", source="ORDO:294939/ntbt"} +xref: ICD10CM:Q69.1 {source="Orphanet:294939/attributed", source="Orphanet:294939/ntbt", source="Orphanet:294939"} xref: OMIMPS:174400 {source="MONDO:equivalentTo"} xref: Orphanet:294939 {source="MONDO:equivalentTo"} xref: UMLS:C1395852 {source="Orphanet:294939", source="MONDO:notFoundInDiseaseSubset"} @@ -338709,7 +338550,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294942"} synonym: "postaxial polydactyly of hand" EXACT [Orphanet:294942] xref: GARD:0012460 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q69.0 {source="ORDO:294942/attributed", source="ORDO:294942/ntbt", source="Orphanet:294942"} +xref: ICD10CM:Q69.0 {source="Orphanet:294942/attributed", source="Orphanet:294942/ntbt", source="Orphanet:294942"} xref: Orphanet:294942 {source="MONDO:equivalentTo"} xref: SCTID:205131007 {source="MONDO:equivalentTo"} is_a: MONDO:0011348 {source="Orphanet:294942"} ! non-syndromic polydactyly @@ -338719,9 +338560,9 @@ id: MONDO:0017427 name: congenital deformities of limbs subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294944"} -xref: MedDRA:10024500 {source="ORDO:294944/e", source="Orphanet:294944"} +xref: MedDRA:10024500 {source="Orphanet:294944/e", source="Orphanet:294944"} xref: Orphanet:294944 {source="MONDO:equivalentTo"} -xref: UMLS:C0206762 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:294944/e", source="Orphanet:294944"} +xref: UMLS:C0206762 {source="Orphanet:294944/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294944"} is_a: MONDO:0015227 {source="Orphanet:294944"} ! non-syndromic limb malformation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -338731,7 +338572,7 @@ id: MONDO:0017428 name: congenital deformities of fingers subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294947"} -xref: ICD10CM:Q68.1 {source="Orphanet:294947", source="ORDO:294947/attributed", source="ORDO:294947/ntbt"} +xref: ICD10CM:Q68.1 {source="Orphanet:294947", source="Orphanet:294947/attributed", source="Orphanet:294947/ntbt"} xref: Orphanet:294947 {source="MONDO:equivalentTo"} is_a: MONDO:0017427 {source="Orphanet:294947"} ! congenital deformities of limbs relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -338816,7 +338657,7 @@ xref: Orphanet:1300 {source="DOID:0060055", source="MONDO:superClassOf"} xref: Orphanet:294963 {source="DOID:0060055", source="MONDO:equivalentTo"} xref: SCTID:205820002 {source="DOID:0060055"} xref: SCTID:66783006 {source="DOID:0060055", source="MONDO:equivalentTo"} -xref: UMLS:C0265259 {source="DOID:0060055", source="NCIT:C118786", source="MONDO:equivalentTo", source="Orphanet:294963", source="ORDO:294963/e"} +xref: UMLS:C0265259 {source="DOID:0060055", source="Orphanet:294963/e", source="NCIT:C118786", source="MONDO:equivalentTo", source="Orphanet:294963"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118786", source="indirect"} ! syndromic disease is_a: MONDO:0015225 {source="Orphanet:294963"} ! arthrogryposis syndrome relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:294963"} ! obsolete syndrome or malformation associated with head and neck malformations @@ -338830,7 +338671,7 @@ subset: ordo_group_of_disorders {source="Orphanet:294965"} synonym: "LCCS" EXACT ABBREVIATION [Orphanet:294965] xref: DOID:0060558 {source="MONDO:equivalentTo"} xref: GARD:0012643 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q68.8 {source="DOID:0060558", source="Orphanet:294965", source="ORDO:294965/attributed", source="ORDO:294965/ntbt"} +xref: ICD10CM:Q68.8 {source="DOID:0060558", source="Orphanet:294965/attributed", source="Orphanet:294965/ntbt", source="Orphanet:294965"} xref: OMIMPS:253310 {source="MONDO:equivalentTo", source="DOID:0060558"} xref: Orphanet:294965 {source="MONDO:equivalentTo", source="DOID:0060558"} xref: UMLS:CN239241 {source="MONDO:equivalentTo"} @@ -338847,7 +338688,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:294967"} synonym: "forelimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic amelia of forelimb" EXACT [MONDO:design_pattern] xref: HP:0009812 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q71.0 {source="ORDO:294967/specific", source="Orphanet:294967", source="ORDO:294967/e"} +xref: ICD10CM:Q71.0 {source="Orphanet:294967/specific", source="Orphanet:294967/e", source="Orphanet:294967"} xref: Orphanet:294967 {source="MONDO:equivalentTo"} xref: SCTID:205306000 {source="MONDO:equivalentTo"} is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294967", source="linkedlifedata"} ! non-syndromic amelia @@ -338862,7 +338703,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:294969"} synonym: "hindlimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic amelia of hindlimb" EXACT [MONDO:design_pattern] xref: HP:0009818 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q72.0 {source="Orphanet:294969", source="ORDO:294969/e", source="ORDO:294969/specific"} +xref: ICD10CM:Q72.0 {source="Orphanet:294969", source="Orphanet:294969/e", source="Orphanet:294969/specific"} xref: Orphanet:294969 {source="MONDO:equivalentTo"} xref: SCTID:265798000 {source="MONDO:equivalentTo"} is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294969", source="linkedlifedata"} ! non-syndromic amelia @@ -338879,7 +338720,7 @@ synonym: "Tetraamelia, autosomal recessive" RELATED [GARD:0005148] synonym: "total amelia" EXACT [Orphanet:294971] xref: GARD:0005148 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0003057 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q73.0 {source="ORDO:294971/attributed", source="ORDO:294971/ntbt", source="Orphanet:294971"} +xref: ICD10CM:Q73.0 {source="Orphanet:294971", source="Orphanet:294971/attributed", source="Orphanet:294971/ntbt"} xref: MESH:C536498 {source="MONDO:equivalentTo"} xref: Orphanet:294971 {source="MONDO:equivalentTo"} xref: SCTID:702313004 {source="MONDO:equivalentTo"} @@ -338893,7 +338734,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:294973"} synonym: "congenital absence of humerus" EXACT [Orphanet:294973] synonym: "congenital hypoplasia of humerus" EXACT [Orphanet:294973] synonym: "humeral intercalary meromelia" EXACT [Orphanet:294973] -xref: ICD10CM:Q71.8 {source="ORDO:294973/ntbt", source="ORDO:294973/index", source="Orphanet:294973"} +xref: ICD10CM:Q71.8 {source="Orphanet:294973/ntbt", source="Orphanet:294973", source="Orphanet:294973/index"} xref: Orphanet:294973 {source="MONDO:equivalentTo"} is_a: MONDO:0019713 {source="Orphanet:294973", source="Orphanet:294973/inferred"} ! non-syndromic limb reduction defect @@ -338905,7 +338746,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:294975"} synonym: "humero-radio-ulnar intercalary transverse meromelia" EXACT [Orphanet:294975] synonym: "phocomelia" EXACT [Orphanet:294975] xref: GARD:0012123 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q71.1 {source="MONDO:equivalentTo", source="ORDO:294975/e", source="ORDO:294975/specific", source="Orphanet:294975"} +xref: ICD10CM:Q71.1 {source="Orphanet:294975/specific", source="Orphanet:294975/e", source="MONDO:equivalentTo", source="Orphanet:294975"} xref: NCIT:C34928 {source="MONDO:equivalentTo"} xref: Orphanet:294975 {source="MONDO:equivalentTo"} xref: SCTID:22841008 {source="MONDO:equivalentTo"} @@ -338919,7 +338760,7 @@ id: MONDO:0017442 name: congenital absence of thigh and lower leg with foot present subset: ordo_morphological_anomaly {source="Orphanet:294977"} synonym: "Femorotibiofibular intercalary transverse meromelia" EXACT [Orphanet:294977] -xref: ICD10CM:Q72.1 {source="MONDO:equivalentTo", source="ORDO:294977/specific", source="ORDO:294977/e", source="Orphanet:294977"} +xref: ICD10CM:Q72.1 {source="Orphanet:294977/specific", source="Orphanet:294977/e", source="MONDO:equivalentTo", source="Orphanet:294977"} xref: ICD9:755.33 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:294977 {source="MONDO:equivalentTo"} xref: SCTID:55852007 {source="MONDO:equivalentTo"} @@ -338933,9 +338774,9 @@ name: congenital absence of both forearm and hand def: "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." [Orphanet:294979] subset: ordo_morphological_anomaly {source="Orphanet:294979"} synonym: "radio-ulnar terminal transverse meromelia" EXACT [Orphanet:294979] -xref: ICD10CM:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="ORDO:294979/specific", source="ORDO:294979/e"} +xref: ICD10CM:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="Orphanet:294979/e", source="Orphanet:294979/specific"} xref: Orphanet:294979 {source="MONDO:equivalentTo"} -xref: UMLS:C1306663 {source="Orphanet:294979", source="MONDO:notFoundInDiseaseSubset", source="ORDO:294979/e"} +xref: UMLS:C1306663 {source="Orphanet:294979", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294979/e"} is_a: MONDO:0017421 {source="Orphanet:294979"} ! non-syndromic terminal limb defects relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -338945,7 +338786,7 @@ id: MONDO:0017444 name: congenital absence of both lower leg and foot subset: ordo_morphological_anomaly {source="Orphanet:294981"} synonym: "tibiofibular terminal transverse meromelia" EXACT [Orphanet:294981] -xref: ICD10CM:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="ORDO:294981/e", source="ORDO:294981/specific"} +xref: ICD10CM:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="Orphanet:294981/specific", source="Orphanet:294981/e"} xref: Orphanet:294981 {source="MONDO:equivalentTo"} xref: SCTID:278532000 {source="MONDO:equivalentTo"} is_a: MONDO:0017421 {source="Orphanet:294981"} ! non-syndromic terminal limb defects @@ -338957,7 +338798,7 @@ id: MONDO:0017445 name: acheiria subset: ordo_morphological_anomaly {source="Orphanet:294983"} synonym: "congenital absence of hand" EXACT [Orphanet:294983] -xref: ICD10CM:Q71.3 {source="Orphanet:294983", source="ORDO:294983/e", source="ORDO:294983/specific"} +xref: ICD10CM:Q71.3 {source="Orphanet:294983/specific", source="Orphanet:294983", source="Orphanet:294983/e"} xref: Orphanet:294983 {source="MONDO:equivalentTo"} xref: SCTID:371199008 {source="MONDO:equivalentTo"} is_a: MONDO:0017421 {source="Orphanet:294983"} ! non-syndromic terminal limb defects @@ -338967,7 +338808,7 @@ id: MONDO:0017446 name: apodia subset: ordo_morphological_anomaly {source="Orphanet:294986"} synonym: "congenital absence of foot" EXACT [Orphanet:294986] -xref: ICD10CM:Q72.3 {source="ORDO:294986/e", source="ORDO:294986/specific", source="Orphanet:294986"} +xref: ICD10CM:Q72.3 {source="Orphanet:294986/specific", source="Orphanet:294986/e", source="Orphanet:294986"} xref: Orphanet:294986 {source="MONDO:equivalentTo"} xref: SCTID:371197005 {source="MONDO:equivalentTo"} xref: UMLS:C0265624 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294986"} @@ -338980,7 +338821,7 @@ def: "Congenital absence/hypoplasia of thumb is a rare developmental defect duri subset: ordo_morphological_anomaly {source="Orphanet:294988"} synonym: "thumb hypodactyly" EXACT [Orphanet:294988] synonym: "thumb oligodactyly" EXACT [Orphanet:294988] -xref: ICD10CM:Q71.3 {source="ORDO:294988/attributed", source="ORDO:294988/ntbt", source="Orphanet:294988"} +xref: ICD10CM:Q71.3 {source="Orphanet:294988/attributed", source="Orphanet:294988/ntbt", source="Orphanet:294988"} xref: Orphanet:294988 {source="MONDO:equivalentTo"} is_a: MONDO:0017422 {source="Orphanet:294988"} ! adactyly of hand relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -338992,8 +338833,8 @@ name: congenital absence/hypoplasia of fingers excluding thumb subset: ordo_morphological_anomaly {source="Orphanet:294990"} synonym: "digits 2-5 hypodactyly" EXACT [Orphanet:294990] synonym: "digits 2-5 oligodactyly" EXACT [Orphanet:294990] -xref: ICD10CM:Q71.3 {source="Orphanet:294990", source="ORDO:294990/attributed", source="ORDO:294990/ntbt"} -xref: OMIM:102650 {source="Orphanet:294990", source="ORDO:294990/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q71.3 {source="Orphanet:294990/attributed", source="Orphanet:294990/ntbt", source="Orphanet:294990"} +xref: OMIM:102650 {source="Orphanet:294990/btnt", source="Orphanet:294990", source="MONDO:superClassOf"} xref: Orphanet:294990 {source="MONDO:equivalentTo"} is_a: MONDO:0017422 {source="Orphanet:294990"} ! adactyly of hand relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339008,7 +338849,7 @@ synonym: "ectrodactyly of hand" EXACT [Orphanet:294992] synonym: "split hand" EXACT [MONDO:ambiguous] synonym: "split hand (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001171 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q71.6 {source="Orphanet:294992", source="ORDO:294992/e", source="ORDO:294992/specific"} +xref: ICD10CM:Q71.6 {source="Orphanet:294992", source="Orphanet:294992/specific", source="Orphanet:294992/e"} xref: Orphanet:294992 {source="MONDO:equivalentTo"} is_a: MONDO:0017423 {source="Orphanet:294992"} ! split hand or/and split foot malformation property_value: IAO:0000589 "split hand (disease)" xsd:string @@ -339020,10 +338861,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:294994"} synonym: "split foot" EXACT [MONDO:ambiguous] synonym: "split foot (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001839 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q72.7 {source="Orphanet:294994", source="ORDO:294994/e", source="ORDO:294994/specific"} +xref: ICD10CM:Q72.7 {source="Orphanet:294994/specific", source="Orphanet:294994", source="Orphanet:294994/e"} xref: Orphanet:294994 {source="MONDO:equivalentTo"} xref: SCTID:205358006 {source="MONDO:equivalentTo"} -xref: UMLS:C0432028 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294994", source="ORDO:294994/e"} +xref: UMLS:C0432028 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294994", source="Orphanet:294994/e"} is_a: MONDO:0017423 {source="Orphanet:294994"} ! split hand or/and split foot malformation property_value: IAO:0000589 "split foot (disease)" xsd:string @@ -339035,7 +338876,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:294996"} synonym: "manus non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic brachydactyly of manus" EXACT [MONDO:design_pattern] synonym: "short fingers" EXACT [Orphanet:294996] -xref: ICD10CM:Q71.8 {source="ORDO:294996/attributed", source="ORDO:294996/ntbt", source="Orphanet:294996"} +xref: ICD10CM:Q71.8 {source="Orphanet:294996", source="Orphanet:294996/attributed", source="Orphanet:294996/ntbt"} xref: Orphanet:294996 {source="MONDO:equivalentTo"} is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294996"} ! non-syndromic brachydactyly intersection_of: MONDO:0017424 ! non-syndromic brachydactyly @@ -339049,11 +338890,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:294998"} synonym: "non-syndromic brachydactyly of pes" EXACT [MONDO:design_pattern] synonym: "pes non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "short toes" EXACT [Orphanet:294998] -xref: ICD10CM:Q72.8 {source="Orphanet:294998", source="ORDO:294998/attributed", source="ORDO:294998/ntbt"} +xref: ICD10CM:Q72.8 {source="Orphanet:294998/attributed", source="Orphanet:294998/ntbt", source="Orphanet:294998"} xref: ICD9:755.66 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:294998 {source="MONDO:equivalentTo"} xref: SCTID:205346006 {source="MONDO:equivalentTo"} -xref: UMLS:C0432029 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294998", source="ORDO:294998/e"} +xref: UMLS:C0432029 {source="Orphanet:294998/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294998"} is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294998", source="linkedlifedata"} ! non-syndromic brachydactyly intersection_of: MONDO:0017424 ! non-syndromic brachydactyly intersection_of: disease_has_location UBERON:0002387 ! pes @@ -339073,7 +338914,7 @@ synonym: "Parvovirus antenatal infection" EXACT [Orphanet:295] synonym: "Parvovirus B19 antenatal infection" RELATED [GARD:0004236] xref: GARD:0002310 {source="MONDO:equivalentTo"} xref: GARD:0004236 {source="MONDO:equivalentTo"} -xref: ICD10CM:P35.8 {source="ORDO:295/ntbt", source="Orphanet:295"} +xref: ICD10CM:P35.8 {source="Orphanet:295/ntbt", source="Orphanet:295"} xref: MESH:C536301 {source="MONDO:equivalentTo"} xref: Orphanet:295 {source="MONDO:equivalentTo"} xref: SCTID:715197005 {source="MONDO:equivalentTo"} @@ -339089,11 +338930,11 @@ name: triphalangeal thumb-polysyndactyly syndrome def: "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." [Orphanet:2950] subset: ordo_malformation_syndrome {source="Orphanet:2950"} synonym: "TPT-PS syndrome" EXACT [Orphanet:2950] -xref: ICD10CM:Q74.8 {source="Orphanet:2950", source="ORDO:2950/attributed", source="ORDO:2950/ntbt"} -xref: MESH:C536563 {source="ORDO:2950/e", source="Orphanet:2950"} -xref: OMIM:174500 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:2950", source="ORDO:2950/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:2950/attributed", source="Orphanet:2950/ntbt", source="Orphanet:2950"} +xref: MESH:C536563 {source="Orphanet:2950", source="Orphanet:2950/e"} +xref: OMIM:174500 {source="MONDO:subClassOf", source="Orphanet:2950/ntbt", source="MONDO:relatedTo", source="Orphanet:2950"} xref: Orphanet:2950 {source="MONDO:equivalentTo"} -xref: UMLS:C1969369 {source="ORDO:2950/e", source="Orphanet:2950", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1969369 {source="Orphanet:2950", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2950/e"} xref: UMLS:CN203197 {source="MONDO:equivalentTo"} is_a: MONDO:0019054 {source="Orphanet:2950"} ! congenital limb malformation relationship: disease_has_major_feature MONDO:0008270 ! polydactyly of a triphalangeal thumb @@ -339106,7 +338947,7 @@ def: "Hyperphalangy is a congenital, non-syndromic limb malformation characteriz subset: ordo_morphological_anomaly {source="Orphanet:295002"} synonym: "supernumerary phalanges" EXACT [Orphanet:295002] synonym: "supernumerary phalanx" EXACT [Orphanet:295002] -xref: ICD10CM:Q74.8 {source="ORDO:295002/attributed", source="ORDO:295002/ntbt", source="Orphanet:295002"} +xref: ICD10CM:Q74.8 {source="Orphanet:295002", source="Orphanet:295002/attributed", source="Orphanet:295002/ntbt"} xref: Orphanet:295002 {source="MONDO:equivalentTo"} xref: SCTID:763535005 {source="MONDO:equivalentTo"} is_a: MONDO:0019714 {source="Orphanet:295002"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy @@ -339121,10 +338962,10 @@ synonym: "mesoaxial polydactyly" EXACT [Orphanet:295004] synonym: "mesoaxial polydactyly of fingers" EXACT [Orphanet:295004] synonym: "mirror hand" EXACT [Orphanet:295004] xref: GARD:0012769 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q69.0 {source="ORDO:295004/attributed", source="ORDO:295004/ntbt", source="Orphanet:295004"} +xref: ICD10CM:Q69.0 {source="Orphanet:295004", source="Orphanet:295004/attributed", source="Orphanet:295004/ntbt"} xref: Orphanet:295004 {source="MONDO:equivalentTo"} xref: SCTID:205130008 {source="MONDO:equivalentTo"} -xref: UMLS:C0431903 {source="ORDO:295004/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295004"} +xref: UMLS:C0431903 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295004", source="Orphanet:295004/e"} is_a: MONDO:0011348 {source="Orphanet:295004", source="Orphanet:295004/inferred"} ! non-syndromic polydactyly [Term] @@ -339136,10 +338977,10 @@ synonym: "bifid halluces" EXACT [Orphanet:295006] synonym: "bifid hallux" EXACT [Orphanet:295006] synonym: "preaxial polydactyly of foot" EXACT [Orphanet:295006] xref: GARD:0012771 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q69.2 {source="ORDO:295006/attributed", source="ORDO:295006/ntbt", source="Orphanet:295006"} +xref: ICD10CM:Q69.2 {source="Orphanet:295006/attributed", source="Orphanet:295006/ntbt", source="Orphanet:295006"} xref: Orphanet:295006 {source="MONDO:equivalentTo"} xref: SCTID:205132000 {source="MONDO:equivalentTo"} -xref: UMLS:C0432036 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:295006/e", source="Orphanet:295006"} +xref: UMLS:C0432036 {source="Orphanet:295006/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295006"} is_a: MONDO:0011348 {source="Orphanet:295006"} ! non-syndromic polydactyly [Term] @@ -339148,10 +338989,10 @@ name: obsolete postaxial polydactyly of toes comment: Obsolete in Orphanet synonym: "postaxial polydactyly of foot" EXACT [Orphanet:295008] xref: GARD:0012770 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:Q69.2 {source="ORDO:295008/attributed", source="ORDO:295008/ntbt", source="Orphanet:295008"} +xref: ICD10CM:Q69.2 {source="Orphanet:295008/attributed", source="Orphanet:295008/ntbt", source="Orphanet:295008"} xref: Orphanet:295008 {source="MONDO:obsoleteEquivalent"} xref: SCTID:205133005 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0432037 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:295008/e", source="Orphanet:295008"} +xref: UMLS:C0432037 {source="Orphanet:295008/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295008"} is_obsolete: true consider: MONDO:0011348 @@ -339162,7 +339003,7 @@ comment: Obsolete in Orphanet synonym: "central polydactyly of foot" EXACT [Orphanet:295010] synonym: "mesoaxial polydactyly of toes" EXACT [Orphanet:295010] synonym: "mirror foot" EXACT [Orphanet:295010] -xref: ICD10CM:Q69.2 {source="Orphanet:295010", source="ORDO:295010/attributed", source="ORDO:295010/ntbt"} +xref: ICD10CM:Q69.2 {source="Orphanet:295010", source="Orphanet:295010/attributed", source="Orphanet:295010/ntbt"} xref: Orphanet:295010 {source="MONDO:obsoleteEquivalent"} xref: SCTID:253967005 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -339176,7 +339017,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:295012"} synonym: "mitten hand" EXACT [Orphanet:295012] synonym: "syndactyly, mitten type" EXACT [Orphanet:295012] synonym: "unilateral syndactyly of digits 2-5" EXACT [Orphanet:295012] -xref: ICD10CM:Q70.1 {source="Orphanet:295012", source="ORDO:295012/attributed", source="ORDO:295012/ntbt"} +xref: ICD10CM:Q70.1 {source="Orphanet:295012/attributed", source="Orphanet:295012/ntbt", source="Orphanet:295012"} xref: Orphanet:295012 {source="MONDO:equivalentTo"} xref: SCTID:763624007 {source="MONDO:equivalentTo"} xref: UMLS:CN203203 {source="MONDO:equivalentTo"} @@ -339188,7 +339029,7 @@ id: MONDO:0017461 name: familial isolated clinodactyly of fingers def: "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." [Orphanet:295014] subset: ordo_morphological_anomaly {source="Orphanet:295014"} -xref: ICD10CM:Q68.1 {source="ORDO:295014/attributed", source="ORDO:295014/ntbt", source="Orphanet:295014"} +xref: ICD10CM:Q68.1 {source="Orphanet:295014", source="Orphanet:295014/attributed", source="Orphanet:295014/ntbt"} xref: Orphanet:295014 {source="MONDO:equivalentTo"} xref: SCTID:763691008 {source="MONDO:equivalentTo"} xref: UMLS:C0265610 {source="Orphanet:295014", source="MONDO:notFoundInDiseaseSubset"} @@ -339201,11 +339042,11 @@ def: "A condition characterized by non-union of the tibia, which is present at b subset: ordo_clinical_subtype {source="Orphanet:295018"} synonym: "congenital pseudarthrosis of the tibia" EXACT [Orphanet:295018] synonym: "congenital pseudarthrosis of tibia" EXACT [NCIT:C132080] -xref: ICD10CM:Q74.2 {source="ORDO:295018/attributed", source="ORDO:295018/ntbt", source="Orphanet:295018"} +xref: ICD10CM:Q74.2 {source="Orphanet:295018", source="Orphanet:295018/attributed", source="Orphanet:295018/ntbt"} xref: NCIT:C132080 {source="MONDO:equivalentTo"} xref: Orphanet:295018 {source="MONDO:equivalentTo"} xref: SCTID:55379003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265661 {source="MONDO:equivalentTo", source="Orphanet:295018", source="ORDO:295018/e"} +xref: UMLS:C0265661 {source="Orphanet:295018/e", source="MONDO:equivalentTo", source="Orphanet:295018"} is_a: MONDO:0015525 {source="Orphanet:295018"} ! congenital pseudoarthrosis of the limbs relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -339215,7 +339056,7 @@ id: MONDO:0017463 name: congenital pseudoarthrosis of the femur subset: ordo_clinical_subtype {source="Orphanet:295020"} synonym: "congenital pseudarthrosis of the femur" EXACT [Orphanet:295020] -xref: ICD10CM:Q74.2 {source="Orphanet:295020", source="ORDO:295020/attributed", source="ORDO:295020/ntbt"} +xref: ICD10CM:Q74.2 {source="Orphanet:295020/attributed", source="Orphanet:295020/ntbt", source="Orphanet:295020"} xref: Orphanet:295020 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295020"} ! congenital pseudoarthrosis of the limbs relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339226,7 +339067,7 @@ id: MONDO:0017464 name: congenital pseudoarthrosis of the fibula subset: ordo_clinical_subtype {source="Orphanet:295022"} synonym: "congenital pseudarthrosis of the fibula" EXACT [Orphanet:295022] -xref: ICD10CM:Q74.2 {source="Orphanet:295022", source="ORDO:295022/attributed", source="ORDO:295022/ntbt"} +xref: ICD10CM:Q74.2 {source="Orphanet:295022/attributed", source="Orphanet:295022/ntbt", source="Orphanet:295022"} xref: Orphanet:295022 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295022"} ! congenital pseudoarthrosis of the limbs relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339237,7 +339078,7 @@ id: MONDO:0017465 name: congenital pseudoarthrosis of the radius subset: ordo_clinical_subtype {source="Orphanet:295024"} synonym: "congenital pseudarthrosis of the radius" EXACT [Orphanet:295024] -xref: ICD10CM:Q74.0 {source="ORDO:295024/attributed", source="ORDO:295024/ntbt", source="Orphanet:295024"} +xref: ICD10CM:Q74.0 {source="Orphanet:295024", source="Orphanet:295024/attributed", source="Orphanet:295024/ntbt"} xref: Orphanet:295024 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295024"} ! congenital pseudoarthrosis of the limbs relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339248,7 +339089,7 @@ id: MONDO:0017466 name: congenital pseudoarthrosis of the ulna subset: ordo_clinical_subtype {source="Orphanet:295026"} synonym: "congenital pseudarthrosis of the ulna" EXACT [Orphanet:295026] -xref: ICD10CM:Q74.0 {source="ORDO:295026/attributed", source="ORDO:295026/ntbt", source="Orphanet:295026"} +xref: ICD10CM:Q74.0 {source="Orphanet:295026", source="Orphanet:295026/attributed", source="Orphanet:295026/ntbt"} xref: Orphanet:295026 {source="MONDO:equivalentTo"} is_a: MONDO:0015525 {source="Orphanet:295026"} ! congenital pseudoarthrosis of the limbs relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339260,7 +339101,7 @@ name: tibio-fibular synostosis def: "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." [Orphanet:295028] subset: ordo_morphological_anomaly {source="Orphanet:295028"} synonym: "Tibio-fibular fusion" EXACT [Orphanet:295028] -xref: ICD10CM:Q74.2 {source="ORDO:295028/attributed", source="ORDO:295028/ntbt", source="Orphanet:295028"} +xref: ICD10CM:Q74.2 {source="Orphanet:295028/attributed", source="Orphanet:295028/ntbt", source="Orphanet:295028"} xref: Orphanet:295028 {source="MONDO:equivalentTo"} xref: SCTID:737581000 {source="MONDO:equivalentTo"} is_a: MONDO:0017429 {source="Orphanet:295028"} ! joint formation defects @@ -339269,11 +339110,11 @@ is_a: MONDO:0017429 {source="Orphanet:295028"} ! joint formation defects id: MONDO:0017468 name: congenital shoulder dislocation subset: ordo_morphological_anomaly {source="Orphanet:295030"} -xref: ICD10CM:Q68.8 {source="Orphanet:295030", source="ORDO:295030/inclusion", source="ORDO:295030/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:295030", source="Orphanet:295030/ntbt", source="Orphanet:295030/inclusion"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:295030 {source="MONDO:equivalentTo"} xref: SCTID:23876003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265562 {source="Orphanet:295030", source="ORDO:295030/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265562 {source="Orphanet:295030", source="Orphanet:295030/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017430 {source="Orphanet:295030"} ! non-syndromic congenital joint dislocations relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -339285,9 +339126,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:295032"} synonym: "congenital radial head dislocation" EXACT [Orphanet:295032] synonym: "isolated congenital elbow dislocation" EXACT [Orphanet:295032] synonym: "isolated congenital radial head dislocation" RELATED [Orphanet:295032] -xref: ICD10CM:Q68.8 {source="Orphanet:295032", source="ORDO:295032/inclusion", source="ORDO:295032/ntbt"} +xref: ICD10CM:Q68.8 {source="Orphanet:295032/inclusion", source="Orphanet:295032", source="Orphanet:295032/ntbt"} xref: Orphanet:295032 {source="MONDO:equivalentTo"} -xref: UMLS:C0265561 {source="Orphanet:295032", source="ORDO:295032/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265561 {source="Orphanet:295032", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295032/e"} is_a: MONDO:0017430 {source="Orphanet:295032"} ! non-syndromic congenital joint dislocations relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -339299,12 +339140,12 @@ subset: ordo_morphological_anomaly {source="Orphanet:295034"} synonym: "congenital knee dislocation" EXACT [MONDO:ambiguous] synonym: "congenital knee dislocation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0005191 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q68.2 {source="Orphanet:295034", source="ORDO:295034/ntbt", source="ORDO:295034/inclusion"} +xref: ICD10CM:Q68.2 {source="Orphanet:295034/ntbt", source="Orphanet:295034/inclusion", source="Orphanet:295034"} xref: ICD9:754.41 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10010520 {source="Orphanet:295034", source="ORDO:295034/e"} +xref: MedDRA:10010520 {source="Orphanet:295034", source="Orphanet:295034/e"} xref: Orphanet:295034 {source="MONDO:equivalentTo"} xref: SCTID:59068006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265669 {source="Orphanet:295034", source="ORDO:295034/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265669 {source="Orphanet:295034", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295034/e"} is_a: MONDO:0017430 {source="Orphanet:295034"} ! non-syndromic congenital joint dislocations relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -339318,11 +339159,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:295036"} synonym: "congenital dislocation of the patella" RELATED [GARD:0009692] synonym: "congenital patellar dislocation" RELATED [GARD:0009692] xref: GARD:0009692 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.1 {source="ORDO:295036/ntbt", source="Orphanet:295036", source="ORDO:295036/inclusion"} +xref: ICD10CM:Q74.1 {source="Orphanet:295036/inclusion", source="Orphanet:295036", source="Orphanet:295036/ntbt"} xref: MESH:C538081 {source="MONDO:equivalentTo"} xref: Orphanet:295036 {source="MONDO:equivalentTo"} xref: SCTID:205067002 {source="MONDO:equivalentTo"} -xref: UMLS:C0345360 {source="Orphanet:295036", source="MONDO:notFoundInDiseaseSubset", source="ORDO:295036/e"} +xref: UMLS:C0345360 {source="Orphanet:295036", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295036/e"} is_a: MONDO:0017430 {source="Orphanet:295036"} ! non-syndromic congenital joint dislocations property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella xsd:anyURI {source="GARD:0009692"} @@ -339330,7 +339171,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9692/congenit id: MONDO:0017472 name: patella aplasia/hypoplasia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295038"} -xref: ICD10CM:Q74.1 {source="ORDO:295038/attributed", source="ORDO:295038/ntbt", source="Orphanet:295038"} +xref: ICD10CM:Q74.1 {source="Orphanet:295038", source="Orphanet:295038/attributed", source="Orphanet:295038/ntbt"} xref: Orphanet:295038 {source="MONDO:equivalentTo"} is_a: MONDO:0008205 {source="Orphanet:295038"} ! patella aplasia/hypoplasia @@ -339338,7 +339179,7 @@ is_a: MONDO:0008205 {source="Orphanet:295038"} ! patella aplasia/hypoplasia id: MONDO:0017473 name: patella aplasia/hypoplasia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295041"} -xref: ICD10CM:Q74.1 {source="Orphanet:295041", source="ORDO:295041/attributed", source="ORDO:295041/ntbt"} +xref: ICD10CM:Q74.1 {source="Orphanet:295041", source="Orphanet:295041/attributed", source="Orphanet:295041/ntbt"} xref: Orphanet:295041 {source="MONDO:equivalentTo"} is_a: MONDO:0008205 {source="Orphanet:295041"} ! patella aplasia/hypoplasia @@ -339352,7 +339193,7 @@ synonym: "megalodactylism of the hand" RELATED [GARD:0008529] synonym: "Megalodactyly of the hand" RELATED [GARD:0008529] xref: GARD:0008529 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100746 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q74.0 {source="Orphanet:295044", source="ORDO:295044/attributed", source="ORDO:295044/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:295044/attributed", source="Orphanet:295044/ntbt", source="Orphanet:295044"} xref: MESH:C537720 {source="MONDO:equivalentTo"} xref: Orphanet:295044 {source="MONDO:equivalentTo"} xref: SCTID:297195000 {source="MONDO:equivalentTo"} @@ -339369,7 +339210,7 @@ synonym: "megalodactylism of the foot" RELATED [GARD:0006951] synonym: "Megalodactyly of the foot" RELATED [GARD:0006951] xref: GARD:0006951 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0100747 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q74.2 {source="ORDO:295047/index", source="ORDO:295047/ntbt", source="Orphanet:295047"} +xref: ICD10CM:Q74.2 {source="Orphanet:295047", source="Orphanet:295047/index", source="Orphanet:295047/ntbt"} xref: MESH:C537719 {source="MONDO:equivalentTo"} xref: Orphanet:295047 {source="MONDO:equivalentTo"} xref: UMLS:C2931596 {source="Orphanet:295047", source="MONDO:notFoundInDiseaseSubset"} @@ -339379,9 +339220,9 @@ is_a: MONDO:0017431 {source="Orphanet:295047"} ! non-syndromic limb overgrowth id: MONDO:0017476 name: upper limb hypertrophy subset: ordo_morphological_anomaly {source="Orphanet:295049"} -xref: ICD10CM:Q74.0 {source="ORDO:295049/attributed", source="ORDO:295049/ntbt", source="Orphanet:295049"} +xref: ICD10CM:Q74.0 {source="Orphanet:295049", source="Orphanet:295049/attributed", source="Orphanet:295049/ntbt"} xref: Orphanet:295049 {source="MONDO:equivalentTo"} -xref: UMLS:C0575518 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295049", source="ORDO:295049/e"} +xref: UMLS:C0575518 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295049", source="Orphanet:295049/e"} is_a: MONDO:0017431 {source="Orphanet:295049"} ! non-syndromic limb overgrowth [Term] @@ -339389,7 +339230,7 @@ id: MONDO:0017477 name: lower limb hypertrophy def: "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia." [Orphanet:295051] subset: ordo_morphological_anomaly {source="Orphanet:295051"} -xref: ICD10CM:Q74.2 {source="Orphanet:295051", source="ORDO:295051/attributed", source="ORDO:295051/ntbt"} +xref: ICD10CM:Q74.2 {source="Orphanet:295051", source="Orphanet:295051/attributed", source="Orphanet:295051/ntbt"} xref: Orphanet:295051 {source="MONDO:equivalentTo"} is_a: MONDO:0017431 {source="Orphanet:295051"} ! non-syndromic limb overgrowth @@ -339397,7 +339238,7 @@ is_a: MONDO:0017431 {source="Orphanet:295051"} ! non-syndromic limb overgrowth id: MONDO:0017478 name: amelia of upper limb, unilateral subset: ordo_clinical_subtype {source="Orphanet:295053"} -xref: ICD10CM:Q71.0 {source="Orphanet:295053", source="ORDO:295053/attributed", source="ORDO:295053/ntbt"} +xref: ICD10CM:Q71.0 {source="Orphanet:295053/attributed", source="Orphanet:295053/ntbt", source="Orphanet:295053"} xref: Orphanet:295053 {source="MONDO:equivalentTo"} is_a: MONDO:0017437 {source="Orphanet:295053"} ! amelia of upper limb @@ -339405,7 +339246,7 @@ is_a: MONDO:0017437 {source="Orphanet:295053"} ! amelia of upper limb id: MONDO:0017479 name: amelia of upper limb, bilateral subset: ordo_clinical_subtype {source="Orphanet:295055"} -xref: ICD10CM:Q71.0 {source="Orphanet:295055", source="ORDO:295055/attributed", source="ORDO:295055/ntbt"} +xref: ICD10CM:Q71.0 {source="Orphanet:295055/attributed", source="Orphanet:295055/ntbt", source="Orphanet:295055"} xref: Orphanet:295055 {source="MONDO:equivalentTo"} is_a: MONDO:0017437 {source="Orphanet:295055"} ! amelia of upper limb @@ -339413,7 +339254,7 @@ is_a: MONDO:0017437 {source="Orphanet:295055"} ! amelia of upper limb id: MONDO:0017480 name: amelia of lower limb, unilateral subset: ordo_clinical_subtype {source="Orphanet:295057"} -xref: ICD10CM:Q72.0 {source="ORDO:295057/attributed", source="ORDO:295057/ntbt", source="Orphanet:295057"} +xref: ICD10CM:Q72.0 {source="Orphanet:295057", source="Orphanet:295057/attributed", source="Orphanet:295057/ntbt"} xref: Orphanet:295057 {source="MONDO:equivalentTo"} is_a: MONDO:0017438 {source="Orphanet:295057"} ! amelia of lower limb @@ -339421,7 +339262,7 @@ is_a: MONDO:0017438 {source="Orphanet:295057"} ! amelia of lower limb id: MONDO:0017481 name: amelia of lower limb, bilateral subset: ordo_clinical_subtype {source="Orphanet:295059"} -xref: ICD10CM:Q72.0 {source="ORDO:295059/attributed", source="ORDO:295059/ntbt", source="Orphanet:295059"} +xref: ICD10CM:Q72.0 {source="Orphanet:295059", source="Orphanet:295059/attributed", source="Orphanet:295059/ntbt"} xref: Orphanet:295059 {source="MONDO:equivalentTo"} is_a: MONDO:0017438 {source="Orphanet:295059"} ! amelia of lower limb @@ -339430,7 +339271,7 @@ id: MONDO:0017482 name: humeral agenesis/hypoplasia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295061"} synonym: "humeral intercalary meromelia, unilateral" EXACT [Orphanet:295061] -xref: ICD10CM:Q71.8 {source="ORDO:295061/attributed", source="ORDO:295061/ntbt", source="Orphanet:295061"} +xref: ICD10CM:Q71.8 {source="Orphanet:295061/attributed", source="Orphanet:295061/ntbt", source="Orphanet:295061"} xref: Orphanet:295061 {source="MONDO:equivalentTo"} is_a: MONDO:0017440 {source="Orphanet:295061"} ! humeral agenesis/hypoplasia @@ -339439,7 +339280,7 @@ id: MONDO:0017483 name: humeral agenesis/hypoplasia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295063"} synonym: "humeral intercalary meromelia, bilateral" EXACT [Orphanet:295063] -xref: ICD10CM:Q71.8 {source="Orphanet:295063", source="ORDO:295063/attributed", source="ORDO:295063/ntbt"} +xref: ICD10CM:Q71.8 {source="Orphanet:295063", source="Orphanet:295063/attributed", source="Orphanet:295063/ntbt"} xref: Orphanet:295063 {source="MONDO:equivalentTo"} is_a: MONDO:0017440 {source="Orphanet:295063"} ! humeral agenesis/hypoplasia @@ -339448,7 +339289,7 @@ id: MONDO:0017484 name: femoral agenesis/hypoplasia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295065"} synonym: "femoral intercalary meromelia, unilateral" EXACT [Orphanet:295065] -xref: ICD10CM:Q72.4 {source="Orphanet:295065", source="ORDO:295065/attributed", source="ORDO:295065/ntbt"} +xref: ICD10CM:Q72.4 {source="Orphanet:295065", source="Orphanet:295065/attributed", source="Orphanet:295065/ntbt"} xref: Orphanet:295065 {source="MONDO:equivalentTo"} is_a: MONDO:0016032 {source="Orphanet:295065"} ! femoral agenesis/hypoplasia @@ -339457,7 +339298,7 @@ id: MONDO:0017485 name: femoral agenesis/hypoplasia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295067"} synonym: "femoral intercalary meromelia, bilateral" EXACT [Orphanet:295067] -xref: ICD10CM:Q72.4 {source="Orphanet:295067", source="ORDO:295067/attributed", source="ORDO:295067/ntbt"} +xref: ICD10CM:Q72.4 {source="Orphanet:295067/attributed", source="Orphanet:295067/ntbt", source="Orphanet:295067"} xref: Orphanet:295067 {source="MONDO:equivalentTo"} is_a: MONDO:0016032 {source="Orphanet:295067"} ! femoral agenesis/hypoplasia @@ -339466,7 +339307,7 @@ id: MONDO:0017486 name: radial hemimelia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295069"} synonym: "radial longitidinal meromelia, unilateral" EXACT [Orphanet:295069] -xref: ICD10CM:Q71.4 {source="ORDO:295069/attributed", source="ORDO:295069/ntbt", source="Orphanet:295069"} +xref: ICD10CM:Q71.4 {source="Orphanet:295069", source="Orphanet:295069/attributed", source="Orphanet:295069/ntbt"} xref: Orphanet:295069 {source="MONDO:equivalentTo"} is_a: MONDO:0019671 {source="Orphanet:295069"} ! radial hemimelia @@ -339475,7 +339316,7 @@ id: MONDO:0017487 name: radial hemimelia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295071"} synonym: "radial longitidinal meromelia, bilateral" EXACT [Orphanet:295071] -xref: ICD10CM:Q71.4 {source="ORDO:295071/attributed", source="ORDO:295071/ntbt", source="Orphanet:295071"} +xref: ICD10CM:Q71.4 {source="Orphanet:295071/attributed", source="Orphanet:295071/ntbt", source="Orphanet:295071"} xref: Orphanet:295071 {source="MONDO:equivalentTo"} is_a: MONDO:0019671 {source="Orphanet:295071"} ! radial hemimelia @@ -339484,7 +339325,7 @@ id: MONDO:0017488 name: ulnar hemimelia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295073"} synonym: "ulnar longitudinal meromelia, bilateral" EXACT [Orphanet:295073] -xref: ICD10CM:Q71.5 {source="Orphanet:295073", source="ORDO:295073/attributed", source="ORDO:295073/ntbt"} +xref: ICD10CM:Q71.5 {source="Orphanet:295073", source="Orphanet:295073/attributed", source="Orphanet:295073/ntbt"} xref: Orphanet:295073 {source="MONDO:equivalentTo"} is_a: MONDO:0019670 {source="Orphanet:295073"} ! ulnar hemimelia @@ -339493,7 +339334,7 @@ id: MONDO:0017489 name: ulnar hemimelia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295075"} synonym: "ulnar longitudinal meromelia, unilateral" EXACT [Orphanet:295075] -xref: ICD10CM:Q71.5 {source="Orphanet:295075", source="ORDO:295075/attributed", source="ORDO:295075/ntbt"} +xref: ICD10CM:Q71.5 {source="Orphanet:295075/attributed", source="Orphanet:295075/ntbt", source="Orphanet:295075"} xref: Orphanet:295075 {source="MONDO:equivalentTo"} is_a: MONDO:0019670 {source="Orphanet:295075"} ! ulnar hemimelia @@ -339502,7 +339343,7 @@ id: MONDO:0017490 name: tibial hemimelia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295077"} synonym: "tibial longitudinal meromelia, unilateral" EXACT [Orphanet:295077] -xref: ICD10CM:Q72.5 {source="Orphanet:295077", source="ORDO:295077/attributed", source="ORDO:295077/ntbt"} +xref: ICD10CM:Q72.5 {source="Orphanet:295077/attributed", source="Orphanet:295077/ntbt", source="Orphanet:295077"} xref: Orphanet:295077 {source="MONDO:equivalentTo"} xref: UMLS:CN203228 {source="MONDO:equivalentTo"} is_a: MONDO:0010144 {source="Orphanet:295077"} ! tibial hemimelia @@ -339512,7 +339353,7 @@ id: MONDO:0017491 name: tibial hemimelia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295079"} synonym: "tibial longitudinal meromelia, bilateral" EXACT [Orphanet:295079] -xref: ICD10CM:Q72.5 {source="ORDO:295079/attributed", source="ORDO:295079/ntbt", source="Orphanet:295079"} +xref: ICD10CM:Q72.5 {source="Orphanet:295079", source="Orphanet:295079/attributed", source="Orphanet:295079/ntbt"} xref: Orphanet:295079 {source="MONDO:equivalentTo"} xref: UMLS:CN203229 {source="MONDO:equivalentTo"} is_a: MONDO:0010144 {source="Orphanet:295079"} ! tibial hemimelia @@ -339522,7 +339363,7 @@ id: MONDO:0017492 name: fibular hemimelia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295081"} synonym: "fibular longitudinal meromelia, unilateral" EXACT [Orphanet:295081] -xref: ICD10CM:Q72.6 {source="Orphanet:295081", source="ORDO:295081/attributed", source="ORDO:295081/ntbt"} +xref: ICD10CM:Q72.6 {source="Orphanet:295081/attributed", source="Orphanet:295081/ntbt", source="Orphanet:295081"} xref: Orphanet:295081 {source="MONDO:equivalentTo"} is_a: MONDO:0019672 {source="Orphanet:295081"} ! fibular hemimelia @@ -339531,7 +339372,7 @@ id: MONDO:0017493 name: fibular hemimelia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295083"} synonym: "fibular longitudinal meromelia, bilateral" EXACT [Orphanet:295083] -xref: ICD10CM:Q72.6 {source="ORDO:295083/attributed", source="ORDO:295083/ntbt", source="Orphanet:295083"} +xref: ICD10CM:Q72.6 {source="Orphanet:295083/attributed", source="Orphanet:295083/ntbt", source="Orphanet:295083"} xref: Orphanet:295083 {source="MONDO:equivalentTo"} is_a: MONDO:0019672 {source="Orphanet:295083"} ! fibular hemimelia @@ -339540,7 +339381,7 @@ id: MONDO:0017494 name: obsolete congenital absence of upper arm and forearm with hand present, unilateral comment: Obsolete in Orphanet synonym: "humero-radio-ulnar intercalary transverse meromelia, unilateral" EXACT [Orphanet:295085] -xref: ICD10CM:Q71.1 {source="MONDO:subClassOf", source="Orphanet:295085", source="ORDO:295085/attributed", source="ORDO:295085/ntbt"} +xref: ICD10CM:Q71.1 {source="MONDO:subClassOf", source="Orphanet:295085", source="Orphanet:295085/attributed", source="Orphanet:295085/ntbt"} xref: Orphanet:295085 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0017441 @@ -339550,7 +339391,7 @@ id: MONDO:0017495 name: obsolete congenital absence of upper arm and forearm with hand present, bilateral comment: Obsolete in Orphanet synonym: "humero-radio-ulnar intercalary transverse meromelia, bilateral" EXACT [Orphanet:295087] -xref: ICD10CM:Q71.1 {source="MONDO:subClassOf", source="Orphanet:295087", source="ORDO:295087/attributed", source="ORDO:295087/ntbt"} +xref: ICD10CM:Q71.1 {source="MONDO:subClassOf", source="Orphanet:295087", source="Orphanet:295087/attributed", source="Orphanet:295087/ntbt"} xref: ICD10CM:Q71.13 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:295087 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -339561,7 +339402,7 @@ id: MONDO:0017496 name: congenital absence of thigh and lower leg with foot present, unilateral subset: ordo_clinical_subtype {source="Orphanet:295089"} synonym: "Femorotibiofibular intercalary transverse meromelia, unilateral" EXACT [Orphanet:295089] -xref: ICD10CM:Q72.1 {source="MONDO:subClassOf", source="Orphanet:295089", source="ORDO:295089/attributed", source="ORDO:295089/ntbt"} +xref: ICD10CM:Q72.1 {source="MONDO:subClassOf", source="Orphanet:295089/attributed", source="Orphanet:295089/ntbt", source="Orphanet:295089"} xref: Orphanet:295089 {source="MONDO:equivalentTo"} is_a: MONDO:0017442 {source="Orphanet:295089"} ! congenital absence of thigh and lower leg with foot present relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339572,7 +339413,7 @@ id: MONDO:0017497 name: congenital absence of thigh and lower leg with foot present, bilateral subset: ordo_clinical_subtype {source="Orphanet:295091"} synonym: "Femorotibiofibular intercalary transverse meromelia, bilateral" EXACT [Orphanet:295091] -xref: ICD10CM:Q72.1 {source="MONDO:subClassOf", source="ORDO:295091/attributed", source="ORDO:295091/ntbt", source="Orphanet:295091"} +xref: ICD10CM:Q72.1 {source="MONDO:subClassOf", source="Orphanet:295091/attributed", source="Orphanet:295091/ntbt", source="Orphanet:295091"} xref: ICD10CM:Q72.13 {source="MONDO:equivalentTo"} xref: Orphanet:295091 {source="MONDO:equivalentTo"} is_a: MONDO:0017442 {source="ICD10CM:Q72.13", source="Orphanet:295091"} ! congenital absence of thigh and lower leg with foot present @@ -339585,7 +339426,7 @@ name: congenital absence of both forearm and hand, unilateral def: "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." [Orphanet:295093] subset: ordo_clinical_subtype {source="Orphanet:295093"} synonym: "radio-ulnar terminal transverse meromelia, unilateral" EXACT [Orphanet:295093] -xref: ICD10CM:Q71.2 {source="MONDO:subClassOf", source="ORDO:295093/attributed", source="ORDO:295093/ntbt", source="Orphanet:295093"} +xref: ICD10CM:Q71.2 {source="MONDO:subClassOf", source="Orphanet:295093/attributed", source="Orphanet:295093/ntbt", source="Orphanet:295093"} xref: Orphanet:295093 {source="MONDO:equivalentTo"} is_a: MONDO:0017443 {source="Orphanet:295093"} ! congenital absence of both forearm and hand relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339597,7 +339438,7 @@ name: congenital absence of both forearm and hand, bilateral def: "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." [Orphanet:295095] subset: ordo_clinical_subtype {source="Orphanet:295095"} synonym: "radio-ulnar terminal transverse meromelia, bilateral" EXACT [Orphanet:295095] -xref: ICD10CM:Q71.2 {source="MONDO:subClassOf", source="Orphanet:295095", source="ORDO:295095/attributed", source="ORDO:295095/ntbt"} +xref: ICD10CM:Q71.2 {source="MONDO:subClassOf", source="Orphanet:295095", source="Orphanet:295095/attributed", source="Orphanet:295095/ntbt"} xref: ICD10CM:Q71.23 {source="MONDO:equivalentTo"} xref: Orphanet:295095 {source="MONDO:equivalentTo"} is_a: MONDO:0017443 {source="ICD10CM:Q71.23", source="Orphanet:295095"} ! congenital absence of both forearm and hand @@ -339609,7 +339450,7 @@ id: MONDO:0017500 name: congenital absence of both lower leg and foot, unilateral subset: ordo_clinical_subtype {source="Orphanet:295097"} synonym: "tibiofibular terminal transverse meromelia, unilateral" EXACT [Orphanet:295097] -xref: ICD10CM:Q72.2 {source="MONDO:subClassOf", source="Orphanet:295097", source="ORDO:295097/attributed", source="ORDO:295097/ntbt"} +xref: ICD10CM:Q72.2 {source="MONDO:subClassOf", source="Orphanet:295097/attributed", source="Orphanet:295097/ntbt", source="Orphanet:295097"} xref: Orphanet:295097 {source="MONDO:equivalentTo"} is_a: MONDO:0017444 {source="Orphanet:295097"} ! congenital absence of both lower leg and foot relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339620,7 +339461,7 @@ id: MONDO:0017501 name: congenital absence of both lower leg and foot, bilateral subset: ordo_clinical_subtype {source="Orphanet:295099"} synonym: "tibiofibular terminal transverse meromelia, bilateral" EXACT [Orphanet:295099] -xref: ICD10CM:Q72.2 {source="MONDO:subClassOf", source="Orphanet:295099", source="ORDO:295099/attributed", source="ORDO:295099/ntbt"} +xref: ICD10CM:Q72.2 {source="MONDO:subClassOf", source="Orphanet:295099/attributed", source="Orphanet:295099/ntbt", source="Orphanet:295099"} xref: ICD10CM:Q72.23 {source="MONDO:equivalentTo"} xref: Orphanet:295099 {source="MONDO:equivalentTo"} is_a: MONDO:0017444 {source="ICD10CM:Q72.23", source="Orphanet:295099"} ! congenital absence of both lower leg and foot @@ -339632,9 +339473,9 @@ id: MONDO:0017502 name: acheiria, unilateral subset: ordo_clinical_subtype {source="Orphanet:295101"} synonym: "congenital absence of hand, unilateral" EXACT [Orphanet:295101] -xref: ICD10CM:Q71.3 {source="ORDO:295101/attributed", source="ORDO:295101/ntbt", source="Orphanet:295101"} +xref: ICD10CM:Q71.3 {source="Orphanet:295101", source="Orphanet:295101/attributed", source="Orphanet:295101/ntbt"} xref: Orphanet:295101 {source="MONDO:equivalentTo"} -xref: UMLS:C0685393 {source="ORDO:295101/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295101"} +xref: UMLS:C0685393 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295101", source="Orphanet:295101/e"} is_a: MONDO:0017445 {source="Orphanet:295101"} ! acheiria [Term] @@ -339642,10 +339483,10 @@ id: MONDO:0017503 name: acheiria, bilateral subset: ordo_clinical_subtype {source="Orphanet:295103"} synonym: "congenital absence of hand, bilateral" EXACT [Orphanet:295103] -xref: ICD10CM:Q71.3 {source="ORDO:295103/attributed", source="ORDO:295103/ntbt", source="Orphanet:295103"} +xref: ICD10CM:Q71.3 {source="Orphanet:295103", source="Orphanet:295103/attributed", source="Orphanet:295103/ntbt"} xref: Orphanet:295103 {source="MONDO:equivalentTo"} xref: SCTID:371189003 {source="MONDO:equivalentTo"} -xref: UMLS:C0685394 {source="ORDO:295103/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295103"} +xref: UMLS:C0685394 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295103", source="Orphanet:295103/e"} is_a: MONDO:0017445 {source="Orphanet:295103", source="linkedlifedata", source="linkedlifedata/inferred"} ! acheiria [Term] @@ -339653,7 +339494,7 @@ id: MONDO:0017504 name: apodia, unilateral subset: ordo_clinical_subtype {source="Orphanet:295105"} synonym: "congenital absence of foot, unilateral" EXACT [Orphanet:295105] -xref: ICD10CM:Q72.3 {source="ORDO:295105/attributed", source="ORDO:295105/ntbt", source="Orphanet:295105"} +xref: ICD10CM:Q72.3 {source="Orphanet:295105/attributed", source="Orphanet:295105/ntbt", source="Orphanet:295105"} xref: Orphanet:295105 {source="MONDO:equivalentTo"} is_a: MONDO:0017446 {source="Orphanet:295105"} ! apodia @@ -339662,7 +339503,7 @@ id: MONDO:0017505 name: apodia, bilateral subset: ordo_clinical_subtype {source="Orphanet:295107"} synonym: "congenital absence of foot, bilateral" EXACT [Orphanet:295107] -xref: ICD10CM:Q72.3 {source="ORDO:295107/attributed", source="ORDO:295107/ntbt", source="Orphanet:295107"} +xref: ICD10CM:Q72.3 {source="Orphanet:295107/attributed", source="Orphanet:295107/ntbt", source="Orphanet:295107"} xref: Orphanet:295107 {source="MONDO:equivalentTo"} is_a: MONDO:0017446 {source="Orphanet:295107"} ! apodia @@ -339673,7 +339514,7 @@ def: "Congenital absence/hypoplasia of thumb, unilateral is a rare developmental subset: ordo_clinical_subtype {source="Orphanet:295110"} synonym: "thumb hypodactyly, unilateral" EXACT [Orphanet:295110] synonym: "thumb oligodactyly, unilateral" EXACT [Orphanet:295110] -xref: ICD10CM:Q71.3 {source="Orphanet:295110", source="ORDO:295110/attributed", source="ORDO:295110/ntbt"} +xref: ICD10CM:Q71.3 {source="Orphanet:295110/attributed", source="Orphanet:295110/ntbt", source="Orphanet:295110"} xref: Orphanet:295110 {source="MONDO:equivalentTo"} is_a: MONDO:0017447 {source="Orphanet:295110"} ! congenital absence/hypoplasia of thumb relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339686,7 +339527,7 @@ def: "Congenital absence/hypoplasia of thumb, bilateral is a rare developmental subset: ordo_clinical_subtype {source="Orphanet:295112"} synonym: "thumb hypodactyly, bilateral" EXACT [Orphanet:295112] synonym: "thumb oligodactyly, bilateral" EXACT [Orphanet:295112] -xref: ICD10CM:Q71.3 {source="ORDO:295112/attributed", source="ORDO:295112/ntbt", source="Orphanet:295112"} +xref: ICD10CM:Q71.3 {source="Orphanet:295112", source="Orphanet:295112/attributed", source="Orphanet:295112/ntbt"} xref: Orphanet:295112 {source="MONDO:equivalentTo"} is_a: MONDO:0017447 {source="Orphanet:295112"} ! congenital absence/hypoplasia of thumb relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339699,7 +339540,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295114"} synonym: "Adactyly of hand, bilateral" EXACT [Orphanet:295114] synonym: "digits 2-5 hypodactyly, bilateral" EXACT [Orphanet:295114] synonym: "digits 2-5 oligodactyly, bilateral" EXACT [Orphanet:295114] -xref: ICD10CM:Q71.3 {source="ORDO:295114/attributed", source="ORDO:295114/ntbt", source="Orphanet:295114"} +xref: ICD10CM:Q71.3 {source="Orphanet:295114", source="Orphanet:295114/attributed", source="Orphanet:295114/ntbt"} xref: Orphanet:295114 {source="MONDO:equivalentTo"} is_a: MONDO:0017448 {source="Orphanet:295114"} ! congenital absence/hypoplasia of fingers excluding thumb relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -339710,7 +339551,7 @@ id: MONDO:0017509 name: adactyly of foot, unilateral subset: ordo_clinical_subtype {source="Orphanet:295116"} synonym: "congenital absence of toes, unilateral" EXACT [Orphanet:295116] -xref: ICD10CM:Q72.8 {source="ORDO:295116/attributed", source="ORDO:295116/ntbt", source="Orphanet:295116"} +xref: ICD10CM:Q72.8 {source="Orphanet:295116/attributed", source="Orphanet:295116/ntbt", source="Orphanet:295116"} xref: Orphanet:295116 {source="MONDO:equivalentTo"} is_a: MONDO:0018563 {source="Orphanet:295116"} ! adactyly of foot @@ -339719,7 +339560,7 @@ id: MONDO:0017510 name: adactyly of foot, bilateral subset: ordo_clinical_subtype {source="Orphanet:295118"} synonym: "congenital absence of toes, bilateral" EXACT [Orphanet:295118] -xref: ICD10CM:Q72.8 {source="ORDO:295118/attributed", source="ORDO:295118/ntbt", source="Orphanet:295118"} +xref: ICD10CM:Q72.8 {source="Orphanet:295118/attributed", source="Orphanet:295118/ntbt", source="Orphanet:295118"} xref: Orphanet:295118 {source="MONDO:equivalentTo"} is_a: MONDO:0018563 {source="Orphanet:295118"} ! adactyly of foot @@ -339728,7 +339569,7 @@ id: MONDO:0017511 name: split hand, unilateral def: "Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:295120] subset: ordo_clinical_subtype {source="Orphanet:295120"} -xref: ICD10CM:Q71.6 {source="Orphanet:295120", source="ORDO:295120/attributed", source="ORDO:295120/ntbt"} +xref: ICD10CM:Q71.6 {source="Orphanet:295120", source="Orphanet:295120/attributed", source="Orphanet:295120/ntbt"} xref: Orphanet:295120 {source="MONDO:equivalentTo"} is_a: MONDO:0017449 {source="Orphanet:295120"} ! split hand @@ -339737,7 +339578,7 @@ id: MONDO:0017512 name: split hand, bilateral def: "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:295122] subset: ordo_clinical_subtype {source="Orphanet:295122"} -xref: ICD10CM:Q71.6 {source="Orphanet:295122", source="ORDO:295122/attributed", source="ORDO:295122/ntbt"} +xref: ICD10CM:Q71.6 {source="Orphanet:295122/attributed", source="Orphanet:295122/ntbt", source="Orphanet:295122"} xref: Orphanet:295122 {source="MONDO:equivalentTo"} is_a: MONDO:0017449 {source="Orphanet:295122"} ! split hand @@ -339745,7 +339586,7 @@ is_a: MONDO:0017449 {source="Orphanet:295122"} ! split hand id: MONDO:0017513 name: split foot, unilateral subset: ordo_clinical_subtype {source="Orphanet:295124"} -xref: ICD10CM:Q72.7 {source="ORDO:295124/attributed", source="ORDO:295124/ntbt", source="Orphanet:295124"} +xref: ICD10CM:Q72.7 {source="Orphanet:295124", source="Orphanet:295124/attributed", source="Orphanet:295124/ntbt"} xref: Orphanet:295124 {source="MONDO:equivalentTo"} is_a: MONDO:0017450 {source="Orphanet:295124"} ! split foot @@ -339753,7 +339594,7 @@ is_a: MONDO:0017450 {source="Orphanet:295124"} ! split foot id: MONDO:0017514 name: split foot, bilateral subset: ordo_clinical_subtype {source="Orphanet:295126"} -xref: ICD10CM:Q72.7 {source="ORDO:295126/attributed", source="ORDO:295126/ntbt", source="Orphanet:295126"} +xref: ICD10CM:Q72.7 {source="Orphanet:295126", source="Orphanet:295126/attributed", source="Orphanet:295126/ntbt"} xref: ICD10CM:Q72.73 {source="MONDO:equivalentTo"} xref: Orphanet:295126 {source="MONDO:equivalentTo"} is_a: MONDO:0017450 {source="Orphanet:295126"} ! split foot @@ -339763,7 +339604,7 @@ id: MONDO:0017515 name: brachydactyly of fingers, unilateral subset: ordo_clinical_subtype {source="Orphanet:295128"} synonym: "short fingers, unilateral" EXACT [Orphanet:295128] -xref: ICD10CM:Q71.8 {source="ORDO:295128/attributed", source="ORDO:295128/ntbt", source="Orphanet:295128"} +xref: ICD10CM:Q71.8 {source="Orphanet:295128", source="Orphanet:295128/attributed", source="Orphanet:295128/ntbt"} xref: Orphanet:295128 {source="MONDO:equivalentTo"} is_a: MONDO:0017451 {source="Orphanet:295128"} ! non-syndromic brachydactyly of fingers @@ -339772,7 +339613,7 @@ id: MONDO:0017516 name: brachydactyly of fingers, bilateral subset: ordo_clinical_subtype {source="Orphanet:295130"} synonym: "short fingers, bilateral" EXACT [Orphanet:295130] -xref: ICD10CM:Q71.8 {source="Orphanet:295130", source="ORDO:295130/attributed", source="ORDO:295130/ntbt"} +xref: ICD10CM:Q71.8 {source="Orphanet:295130/attributed", source="Orphanet:295130/ntbt", source="Orphanet:295130"} xref: Orphanet:295130 {source="MONDO:equivalentTo"} is_a: MONDO:0017451 {source="Orphanet:295130"} ! non-syndromic brachydactyly of fingers @@ -339781,7 +339622,7 @@ id: MONDO:0017517 name: brachydactyly of toes, unilateral subset: ordo_clinical_subtype {source="Orphanet:295132"} synonym: "short toes, unilateral" EXACT [Orphanet:295132] -xref: ICD10CM:Q72.8 {source="Orphanet:295132", source="ORDO:295132/attributed", source="ORDO:295132/ntbt"} +xref: ICD10CM:Q72.8 {source="Orphanet:295132/attributed", source="Orphanet:295132/ntbt", source="Orphanet:295132"} xref: Orphanet:295132 {source="MONDO:equivalentTo"} is_a: MONDO:0017452 {source="Orphanet:295132"} ! non-syndromic brachydactyly of toes @@ -339790,7 +339631,7 @@ id: MONDO:0017518 name: brachydactyly of toes, bilateral subset: ordo_clinical_subtype {source="Orphanet:295134"} synonym: "short toes, bilateral" EXACT [Orphanet:295134] -xref: ICD10CM:Q72.8 {source="ORDO:295134/attributed", source="ORDO:295134/ntbt", source="Orphanet:295134"} +xref: ICD10CM:Q72.8 {source="Orphanet:295134", source="Orphanet:295134/attributed", source="Orphanet:295134/ntbt"} xref: Orphanet:295134 {source="MONDO:equivalentTo"} is_a: MONDO:0017452 {source="Orphanet:295134"} ! non-syndromic brachydactyly of toes @@ -339798,7 +339639,7 @@ is_a: MONDO:0017452 {source="Orphanet:295134"} ! non-syndromic brachydactyly of id: MONDO:0017519 name: symbrachydactyly of hand and foot, unilateral subset: ordo_clinical_subtype {source="Orphanet:295136"} -xref: ICD10CM:Q73.8 {source="ORDO:295136/attributed", source="ORDO:295136/ntbt", source="Orphanet:295136"} +xref: ICD10CM:Q73.8 {source="Orphanet:295136", source="Orphanet:295136/attributed", source="Orphanet:295136/ntbt"} xref: Orphanet:295136 {source="MONDO:equivalentTo"} xref: UMLS:CN203252 {source="MONDO:equivalentTo"} is_a: MONDO:0015516 {source="Orphanet:295136"} ! symbrachydactyly of hands and feet @@ -339807,7 +339648,7 @@ is_a: MONDO:0015516 {source="Orphanet:295136"} ! symbrachydactyly of hands and f id: MONDO:0017520 name: symbrachydactyly of hand and foot, bilateral subset: ordo_clinical_subtype {source="Orphanet:295138"} -xref: ICD10CM:Q73.8 {source="ORDO:295138/attributed", source="ORDO:295138/ntbt", source="Orphanet:295138"} +xref: ICD10CM:Q73.8 {source="Orphanet:295138/attributed", source="Orphanet:295138/ntbt", source="Orphanet:295138"} xref: Orphanet:295138 {source="MONDO:equivalentTo"} xref: UMLS:CN203253 {source="MONDO:equivalentTo"} is_a: MONDO:0015516 {source="Orphanet:295138"} ! symbrachydactyly of hands and feet @@ -339819,7 +339660,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295140"} synonym: "hyperphalangy in digits 2-5" EXACT [Orphanet:295140] synonym: "supernumerary phalanges, unilateral" EXACT [Orphanet:295140] synonym: "supernumerary phalanx, unilateral" EXACT [Orphanet:295140] -xref: ICD10CM:Q74.8 {source="Orphanet:295140", source="ORDO:295140/attributed", source="ORDO:295140/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:295140", source="Orphanet:295140/attributed", source="Orphanet:295140/ntbt"} xref: Orphanet:295140 {source="MONDO:equivalentTo"} is_a: MONDO:0017455 {source="Orphanet:295140"} ! hyperphalangy @@ -339829,7 +339670,7 @@ name: hyperphalangy, bilateral subset: ordo_clinical_subtype {source="Orphanet:295142"} synonym: "supernumerary phalanges, bilateral" EXACT [Orphanet:295142] synonym: "supernumerary phalanx, bilateral" EXACT [Orphanet:295142] -xref: ICD10CM:Q74.8 {source="Orphanet:295142", source="ORDO:295142/attributed", source="ORDO:295142/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:295142", source="Orphanet:295142/attributed", source="Orphanet:295142/ntbt"} xref: Orphanet:295142 {source="MONDO:equivalentTo"} is_a: MONDO:0017455 {source="Orphanet:295142"} ! hyperphalangy @@ -339838,7 +339679,7 @@ id: MONDO:0017523 name: polydactyly of a biphalangeal thumb, unilateral subset: ordo_clinical_subtype {source="Orphanet:295144"} synonym: "preaxial polydactyly type 1, unilateral" EXACT [Orphanet:295144] -xref: ICD10CM:Q69.1 {source="Orphanet:295144", source="ORDO:295144/attributed", source="ORDO:295144/ntbt"} +xref: ICD10CM:Q69.1 {source="Orphanet:295144/attributed", source="Orphanet:295144/ntbt", source="Orphanet:295144"} xref: Orphanet:295144 {source="MONDO:equivalentTo"} xref: UMLS:CN203254 {source="MONDO:equivalentTo"} is_a: MONDO:0008269 {source="Orphanet:295144"} ! polydactyly of a biphalangeal thumb @@ -339848,7 +339689,7 @@ id: MONDO:0017524 name: polydactyly of a biphalangeal thumb, bilateral subset: ordo_clinical_subtype {source="Orphanet:295146"} synonym: "preaxial polydactyly type 1, bilateral" EXACT [Orphanet:295146] -xref: ICD10CM:Q69.1 {source="ORDO:295146/attributed", source="ORDO:295146/ntbt", source="Orphanet:295146"} +xref: ICD10CM:Q69.1 {source="Orphanet:295146", source="Orphanet:295146/attributed", source="Orphanet:295146/ntbt"} xref: Orphanet:295146 {source="MONDO:equivalentTo"} xref: UMLS:CN203255 {source="MONDO:equivalentTo"} is_a: MONDO:0008269 {source="Orphanet:295146"} ! polydactyly of a biphalangeal thumb @@ -339859,7 +339700,7 @@ name: polydactyly of a triphalangeal thumb, unilateral subset: ordo_clinical_subtype {source="Orphanet:295148"} synonym: "preaxial polydactyly type 2, unilateral" EXACT [Orphanet:295148] synonym: "unilateral PPD2" EXACT [Orphanet:295148] -xref: ICD10CM:Q69.1 {source="ORDO:295148/attributed", source="ORDO:295148/ntbt", source="Orphanet:295148"} +xref: ICD10CM:Q69.1 {source="Orphanet:295148", source="Orphanet:295148/attributed", source="Orphanet:295148/ntbt"} xref: Orphanet:295148 {source="MONDO:equivalentTo"} xref: UMLS:CN203256 {source="MONDO:equivalentTo"} is_a: MONDO:0008270 {source="Orphanet:295148"} ! polydactyly of a triphalangeal thumb @@ -339870,7 +339711,7 @@ name: polydactyly of a triphalangeal thumb, bilateral subset: ordo_clinical_subtype {source="Orphanet:295150"} synonym: "bilateral PPD2" EXACT [Orphanet:295150] synonym: "preaxial polydactyly type 2, bilateral" EXACT [Orphanet:295150] -xref: ICD10CM:Q69.1 {source="Orphanet:295150", source="ORDO:295150/attributed", source="ORDO:295150/ntbt"} +xref: ICD10CM:Q69.1 {source="Orphanet:295150", source="Orphanet:295150/attributed", source="Orphanet:295150/ntbt"} xref: Orphanet:295150 {source="MONDO:equivalentTo"} xref: UMLS:CN203257 {source="MONDO:equivalentTo"} is_a: MONDO:0008270 {source="Orphanet:295150"} ! polydactyly of a triphalangeal thumb @@ -339880,7 +339721,7 @@ id: MONDO:0017527 name: polydactyly of an index finger, unilateral subset: ordo_clinical_subtype {source="Orphanet:295152"} synonym: "preaxial polydactyly type 3, unilateral" EXACT [Orphanet:295152] -xref: ICD10CM:Q69.0 {source="Orphanet:295152", source="ORDO:295152/attributed", source="ORDO:295152/ntbt"} +xref: ICD10CM:Q69.0 {source="Orphanet:295152/attributed", source="Orphanet:295152/ntbt", source="Orphanet:295152"} xref: Orphanet:295152 {source="MONDO:equivalentTo"} xref: UMLS:CN203258 {source="MONDO:equivalentTo"} is_a: MONDO:0008271 {source="Orphanet:295152"} ! polydactyly of an index finger @@ -339890,7 +339731,7 @@ id: MONDO:0017528 name: polydactyly of an index finger, bilateral subset: ordo_clinical_subtype {source="Orphanet:295154"} synonym: "preaxial polydactyly type 3, bilateral" EXACT [Orphanet:295154] -xref: ICD10CM:Q69.0 {source="Orphanet:295154", source="ORDO:295154/attributed", source="ORDO:295154/ntbt"} +xref: ICD10CM:Q69.0 {source="Orphanet:295154/attributed", source="Orphanet:295154/ntbt", source="Orphanet:295154"} xref: Orphanet:295154 {source="MONDO:equivalentTo"} xref: UMLS:CN203259 {source="MONDO:equivalentTo"} is_a: MONDO:0008271 {source="Orphanet:295154"} ! polydactyly of an index finger @@ -339900,7 +339741,7 @@ id: MONDO:0017529 name: polysyndactyly, unilateral subset: ordo_clinical_subtype {source="Orphanet:295159"} synonym: "preaxial polydactyly type 4, unilateral" EXACT [Orphanet:295159] -xref: ICD10CM:Q70.4 {source="ORDO:295159/attributed", source="ORDO:295159/ntbt", source="Orphanet:295159"} +xref: ICD10CM:Q70.4 {source="Orphanet:295159", source="Orphanet:295159/attributed", source="Orphanet:295159/ntbt"} xref: Orphanet:295159 {source="MONDO:equivalentTo"} xref: UMLS:CN203260 {source="MONDO:equivalentTo"} is_a: MONDO:0008272 {source="Orphanet:295159"} ! polysyndactyly 4 @@ -339910,7 +339751,7 @@ id: MONDO:0017530 name: polysyndactyly, bilateral subset: ordo_clinical_subtype {source="Orphanet:295161"} synonym: "preaxial polydactyly type 4, bilateral" EXACT [Orphanet:295161] -xref: ICD10CM:Q70.4 {source="Orphanet:295161", source="ORDO:295161/attributed", source="ORDO:295161/ntbt"} +xref: ICD10CM:Q70.4 {source="Orphanet:295161", source="Orphanet:295161/attributed", source="Orphanet:295161/ntbt"} xref: Orphanet:295161 {source="MONDO:equivalentTo"} xref: UMLS:CN203261 {source="MONDO:equivalentTo"} is_a: MONDO:0008272 {source="Orphanet:295161"} ! polysyndactyly 4 @@ -339919,7 +339760,7 @@ is_a: MONDO:0008272 {source="Orphanet:295161"} ! polysyndactyly 4 id: MONDO:0017531 name: postaxial polydactyly type A, unilateral subset: ordo_clinical_subtype {source="Orphanet:295163"} -xref: ICD10CM:Q69.0 {source="Orphanet:295163", source="ORDO:295163/attributed", source="ORDO:295163/ntbt"} +xref: ICD10CM:Q69.0 {source="Orphanet:295163/attributed", source="Orphanet:295163/ntbt", source="Orphanet:295163"} xref: Orphanet:295163 {source="MONDO:equivalentTo"} xref: UMLS:CN203262 {source="MONDO:equivalentTo"} is_a: MONDO:0019673 {source="Orphanet:295163"} ! postaxial polydactyly type A @@ -339928,7 +339769,7 @@ is_a: MONDO:0019673 {source="Orphanet:295163"} ! postaxial polydactyly type A id: MONDO:0017532 name: postaxial polydactyly type A, bilateral subset: ordo_clinical_subtype {source="Orphanet:295165"} -xref: ICD10CM:Q69.0 {source="Orphanet:295165", source="ORDO:295165/attributed", source="ORDO:295165/ntbt"} +xref: ICD10CM:Q69.0 {source="Orphanet:295165/attributed", source="Orphanet:295165/ntbt", source="Orphanet:295165"} xref: Orphanet:295165 {source="MONDO:equivalentTo"} xref: UMLS:CN203263 {source="MONDO:equivalentTo"} is_a: MONDO:0019673 {source="Orphanet:295165"} ! postaxial polydactyly type A @@ -339937,7 +339778,7 @@ is_a: MONDO:0019673 {source="Orphanet:295165"} ! postaxial polydactyly type A id: MONDO:0017533 name: postaxial polydactyly type B, unilateral subset: ordo_clinical_subtype {source="Orphanet:295167"} -xref: ICD10CM:Q69.0 {source="ORDO:295167/attributed", source="ORDO:295167/ntbt", source="Orphanet:295167"} +xref: ICD10CM:Q69.0 {source="Orphanet:295167", source="Orphanet:295167/attributed", source="Orphanet:295167/ntbt"} xref: Orphanet:295167 {source="MONDO:equivalentTo"} xref: UMLS:CN203264 {source="MONDO:equivalentTo"} is_a: MONDO:0019674 {source="Orphanet:295167"} ! postaxial polydactyly type B @@ -339946,7 +339787,7 @@ is_a: MONDO:0019674 {source="Orphanet:295167"} ! postaxial polydactyly type B id: MONDO:0017534 name: postaxial polydactyly type B, bilateral subset: ordo_clinical_subtype {source="Orphanet:295169"} -xref: ICD10CM:Q69.0 {source="ORDO:295169/attributed", source="ORDO:295169/ntbt", source="Orphanet:295169"} +xref: ICD10CM:Q69.0 {source="Orphanet:295169", source="Orphanet:295169/attributed", source="Orphanet:295169/ntbt"} xref: Orphanet:295169 {source="MONDO:equivalentTo"} xref: UMLS:CN203265 {source="MONDO:equivalentTo"} is_a: MONDO:0019674 {source="Orphanet:295169"} ! postaxial polydactyly type B @@ -339957,7 +339798,7 @@ name: central polydactyly of fingers, unilateral subset: ordo_clinical_subtype {source="Orphanet:295171"} synonym: "mesoaxial polydactyly of fingers, unilateral" EXACT [Orphanet:295171] synonym: "mirror hand, unilateral" EXACT [Orphanet:295171] -xref: ICD10CM:Q69.0 {source="ORDO:295171/attributed", source="ORDO:295171/ntbt", source="Orphanet:295171"} +xref: ICD10CM:Q69.0 {source="Orphanet:295171/attributed", source="Orphanet:295171/ntbt", source="Orphanet:295171"} xref: Orphanet:295171 {source="MONDO:equivalentTo"} is_a: MONDO:0017456 {source="Orphanet:295171"} ! central polydactyly of fingers @@ -339967,7 +339808,7 @@ name: central polydactyly of fingers, bilateral subset: ordo_clinical_subtype {source="Orphanet:295173"} synonym: "mesoaxial polydactyly of fingers, bilateral" EXACT [Orphanet:295173] synonym: "mirror hand, bilateral" EXACT [Orphanet:295173] -xref: ICD10CM:Q69.0 {source="Orphanet:295173", source="ORDO:295173/attributed", source="ORDO:295173/ntbt"} +xref: ICD10CM:Q69.0 {source="Orphanet:295173", source="Orphanet:295173/attributed", source="Orphanet:295173/ntbt"} xref: Orphanet:295173 {source="MONDO:equivalentTo"} is_a: MONDO:0017456 {source="Orphanet:295173"} ! central polydactyly of fingers @@ -339978,7 +339819,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295175"} synonym: "bifid great toes, unilateral" EXACT [Orphanet:295175] synonym: "bifid halluces, unilateral" EXACT [Orphanet:295175] synonym: "bifid hallux, unilateral" EXACT [Orphanet:295175] -xref: ICD10CM:Q69.2 {source="Orphanet:295175", source="ORDO:295175/attributed", source="ORDO:295175/ntbt"} +xref: ICD10CM:Q69.2 {source="Orphanet:295175", source="Orphanet:295175/attributed", source="Orphanet:295175/ntbt"} xref: Orphanet:295175 {source="MONDO:equivalentTo"} is_a: MONDO:0017457 {source="Orphanet:295175"} ! Preaxial polydactyly of toes @@ -339989,7 +339830,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295177"} synonym: "bifid great toes, bilateral" EXACT [Orphanet:295177] synonym: "bifid halluces, bilateral" EXACT [Orphanet:295177] synonym: "bifid hallux, bilateral" EXACT [Orphanet:295177] -xref: ICD10CM:Q69.2 {source="Orphanet:295177", source="ORDO:295177/attributed", source="ORDO:295177/ntbt"} +xref: ICD10CM:Q69.2 {source="Orphanet:295177/attributed", source="Orphanet:295177/ntbt", source="Orphanet:295177"} xref: Orphanet:295177 {source="MONDO:equivalentTo"} is_a: MONDO:0017457 {source="Orphanet:295177"} ! Preaxial polydactyly of toes @@ -339997,7 +339838,7 @@ is_a: MONDO:0017457 {source="Orphanet:295177"} ! Preaxial polydactyly of toes id: MONDO:0017539 name: obsolete postaxial polydactyly of toes, unilateral comment: Obsolete in Orphanet -xref: ICD10CM:Q69.2 {source="ORDO:295179/attributed", source="ORDO:295179/ntbt", source="Orphanet:295179"} +xref: ICD10CM:Q69.2 {source="Orphanet:295179", source="Orphanet:295179/attributed", source="Orphanet:295179/ntbt"} xref: Orphanet:295179 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0011348 @@ -340006,7 +339847,7 @@ consider: MONDO:0011348 id: MONDO:0017540 name: obsolete postaxial polydactyly of toes, bilateral comment: Obsolete in Orphanet -xref: ICD10CM:Q69.2 {source="ORDO:295181/attributed", source="ORDO:295181/ntbt", source="Orphanet:295181"} +xref: ICD10CM:Q69.2 {source="Orphanet:295181/attributed", source="Orphanet:295181/ntbt", source="Orphanet:295181"} xref: Orphanet:295181 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0011348 @@ -340017,7 +339858,7 @@ name: obsolete central polydactyly of toes, unilateral comment: Obsolete in Orphanet synonym: "mesoaxial polydactyly of toes, unilateral" EXACT [Orphanet:295183] synonym: "mirror foot, unilateral" EXACT [Orphanet:295183] -xref: ICD10CM:Q69.2 {source="Orphanet:295183", source="ORDO:295183/attributed", source="ORDO:295183/ntbt"} +xref: ICD10CM:Q69.2 {source="Orphanet:295183", source="Orphanet:295183/attributed", source="Orphanet:295183/ntbt"} xref: Orphanet:295183 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0011348 @@ -340028,7 +339869,7 @@ name: obsolete central polydactyly of toes, bilateral comment: Obsolete in Orphanet synonym: "mesoaxial polydactyly of toes, bilateral" EXACT [Orphanet:295185] synonym: "mirror foot, bilateral" EXACT [Orphanet:295185] -xref: ICD10CM:Q69.2 {source="Orphanet:295185", source="ORDO:295185/attributed", source="ORDO:295185/ntbt"} +xref: ICD10CM:Q69.2 {source="Orphanet:295185/attributed", source="Orphanet:295185/ntbt", source="Orphanet:295185"} xref: Orphanet:295185 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0011348 @@ -340042,10 +339883,10 @@ synonym: "SD1b" EXACT [Orphanet:295189] synonym: "syndactyly type 1, Lueken type" EXACT [Orphanet:295189] synonym: "syndactyly type 1b" EXACT [Orphanet:295189] synonym: "Zygodactyly, Lueken type" EXACT [Orphanet:295189] -xref: ICD10CM:Q70.0 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"} -xref: ICD10CM:Q70.1 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"} -xref: ICD10CM:Q70.2 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"} -xref: ICD10CM:Q70.3 {source="ORDO:295189/nd", source="ORDO:295189/attributed", source="Orphanet:295189"} +xref: ICD10CM:Q70.0 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} +xref: ICD10CM:Q70.1 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} +xref: ICD10CM:Q70.2 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} +xref: ICD10CM:Q70.3 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} xref: Orphanet:295189 {source="MONDO:equivalentTo"} xref: UMLS:CN203275 {source="MONDO:equivalentTo"} is_a: MONDO:0008512 {source="Orphanet:295189"} ! syndactyly type 1 @@ -340059,10 +339900,10 @@ synonym: "SD1c" EXACT [Orphanet:295191] synonym: "syndactyly type 1, Montagu type" EXACT [Orphanet:295191] synonym: "syndactyly type 1c" EXACT [Orphanet:295191] synonym: "Zygodactyly, Montagu type" EXACT [Orphanet:295191] -xref: ICD10CM:Q70.0 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"} -xref: ICD10CM:Q70.1 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"} -xref: ICD10CM:Q70.2 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"} -xref: ICD10CM:Q70.3 {source="ORDO:295191/nd", source="Orphanet:295191", source="ORDO:295191/attributed"} +xref: ICD10CM:Q70.0 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} +xref: ICD10CM:Q70.1 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} +xref: ICD10CM:Q70.2 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} +xref: ICD10CM:Q70.3 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} xref: Orphanet:295191 {source="MONDO:equivalentTo"} xref: UMLS:CN203276 {source="MONDO:equivalentTo"} is_a: MONDO:0008512 {source="Orphanet:295191"} ! syndactyly type 1 @@ -340076,7 +339917,7 @@ synonym: "SD1d" EXACT [Orphanet:295193] synonym: "syndactyly type 1, Castilla type" EXACT [Orphanet:295193] synonym: "syndactyly type 1d" EXACT [Orphanet:295193] synonym: "Zygodactyly, Castilla type" EXACT [Orphanet:295193] -xref: ICD10CM:Q70.3 {source="ORDO:295193/attributed", source="ORDO:295193/ntbt", source="Orphanet:295193"} +xref: ICD10CM:Q70.3 {source="Orphanet:295193/attributed", source="Orphanet:295193/ntbt", source="Orphanet:295193"} xref: Orphanet:295193 {source="MONDO:equivalentTo"} xref: UMLS:CN203277 {source="MONDO:equivalentTo"} is_a: MONDO:0008512 {source="Orphanet:295193"} ! syndactyly type 1 @@ -340085,7 +339926,7 @@ is_a: MONDO:0008512 {source="Orphanet:295193"} ! syndactyly type 1 id: MONDO:0017546 name: congenital vertical talus, unilateral subset: ordo_clinical_subtype {source="Orphanet:295201"} -xref: ICD10CM:Q66.8 {source="ORDO:295201/attributed", source="ORDO:295201/ntbt", source="Orphanet:295201"} +xref: ICD10CM:Q66.8 {source="Orphanet:295201", source="Orphanet:295201/attributed", source="Orphanet:295201/ntbt"} xref: Orphanet:295201 {source="MONDO:equivalentTo"} is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus @@ -340093,7 +339934,7 @@ is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus id: MONDO:0017547 name: congenital vertical talus, bilateral subset: ordo_clinical_subtype {source="Orphanet:295203"} -xref: ICD10CM:Q66.8 {source="ORDO:295203/attributed", source="ORDO:295203/ntbt", source="Orphanet:295203"} +xref: ICD10CM:Q66.8 {source="Orphanet:295203", source="Orphanet:295203/attributed", source="Orphanet:295203/ntbt"} xref: Orphanet:295203 {source="MONDO:equivalentTo"} is_a: MONDO:0008652 {source="Orphanet:295203"} ! congenital vertical talus @@ -340102,7 +339943,7 @@ id: MONDO:0017548 name: humero-radio-ulnar synostosis, unilateral subset: ordo_clinical_subtype {source="Orphanet:295205"} synonym: "humero-radio-ulnar fusion, unilateral" EXACT [Orphanet:295205] -xref: ICD10CM:Q74.0 {source="ORDO:295205/attributed", source="ORDO:295205/ntbt", source="Orphanet:295205"} +xref: ICD10CM:Q74.0 {source="Orphanet:295205", source="Orphanet:295205/attributed", source="Orphanet:295205/ntbt"} xref: Orphanet:295205 {source="MONDO:equivalentTo"} is_a: MONDO:0017983 {source="Orphanet:295205"} ! humero-radio-ulnar synostosis @@ -340111,7 +339952,7 @@ id: MONDO:0017549 name: humero-radio-ulnar synostosis, bilateral subset: ordo_clinical_subtype {source="Orphanet:295207"} synonym: "humero-radio-ulnar fusion, bilateral" EXACT [Orphanet:295207] -xref: ICD10CM:Q74.0 {source="Orphanet:295207", source="ORDO:295207/attributed", source="ORDO:295207/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:295207/attributed", source="Orphanet:295207/ntbt", source="Orphanet:295207"} xref: Orphanet:295207 {source="MONDO:equivalentTo"} is_a: MONDO:0017983 {source="Orphanet:295207"} ! humero-radio-ulnar synostosis @@ -340120,7 +339961,7 @@ id: MONDO:0017550 name: humero-radial synostosis, unilateral subset: ordo_clinical_subtype {source="Orphanet:295209"} synonym: "humero-radial fusion, unilateral" EXACT [Orphanet:295209] -xref: ICD10CM:Q74.0 {source="ORDO:295209/attributed", source="ORDO:295209/ntbt", source="Orphanet:295209"} +xref: ICD10CM:Q74.0 {source="Orphanet:295209/attributed", source="Orphanet:295209/ntbt", source="Orphanet:295209"} xref: Orphanet:295209 {source="MONDO:equivalentTo"} is_a: MONDO:0007737 {source="Orphanet:295209"} ! humeroradial synostosis @@ -340129,7 +339970,7 @@ id: MONDO:0017551 name: humero-radial synostosis, bilateral subset: ordo_clinical_subtype {source="Orphanet:295211"} synonym: "humero-radial fusion, bilateral" EXACT [Orphanet:295211] -xref: ICD10CM:Q74.0 {source="ORDO:295211/attributed", source="ORDO:295211/ntbt", source="Orphanet:295211"} +xref: ICD10CM:Q74.0 {source="Orphanet:295211", source="Orphanet:295211/attributed", source="Orphanet:295211/ntbt"} xref: Orphanet:295211 {source="MONDO:equivalentTo"} is_a: MONDO:0007737 {source="Orphanet:295211"} ! humeroradial synostosis @@ -340138,7 +339979,7 @@ id: MONDO:0017552 name: humero-ulnar synostosis, unilateral subset: ordo_clinical_subtype {source="Orphanet:295213"} synonym: "humero-ulnar fusion, unilateral" EXACT [Orphanet:295213] -xref: ICD10CM:Q74.0 {source="ORDO:295213/attributed", source="ORDO:295213/ntbt", source="Orphanet:295213"} +xref: ICD10CM:Q74.0 {source="Orphanet:295213", source="Orphanet:295213/attributed", source="Orphanet:295213/ntbt"} xref: Orphanet:295213 {source="MONDO:equivalentTo"} is_a: MONDO:0019782 {source="Orphanet:295213"} ! humero-ulnar synostosis @@ -340147,7 +339988,7 @@ id: MONDO:0017553 name: humero-ulnar synostosis, bilateral subset: ordo_clinical_subtype {source="Orphanet:295215"} synonym: "humero-ulnar fusion, bilateral" EXACT [Orphanet:295215] -xref: ICD10CM:Q74.0 {source="ORDO:295215/attributed", source="ORDO:295215/ntbt", source="Orphanet:295215"} +xref: ICD10CM:Q74.0 {source="Orphanet:295215/attributed", source="Orphanet:295215/ntbt", source="Orphanet:295215"} xref: Orphanet:295215 {source="MONDO:equivalentTo"} is_a: MONDO:0019782 {source="Orphanet:295215"} ! humero-ulnar synostosis @@ -340156,7 +339997,7 @@ id: MONDO:0017554 name: radio-ulnar synostosis, unilateral subset: ordo_clinical_subtype {source="Orphanet:295217"} synonym: "radio-ulnar fusion, unilateral" EXACT [Orphanet:295217] -xref: ICD10CM:Q74.0 {source="ORDO:295217/attributed", source="ORDO:295217/ntbt", source="Orphanet:295217"} +xref: ICD10CM:Q74.0 {source="Orphanet:295217/attributed", source="Orphanet:295217/ntbt", source="Orphanet:295217"} xref: Orphanet:295217 {source="MONDO:equivalentTo"} xref: UMLS:CN203290 {source="MONDO:equivalentTo"} is_a: MONDO:0017985 {source="Orphanet:295217"} ! congenital radioulnar synostosis @@ -340166,7 +340007,7 @@ id: MONDO:0017555 name: radio-ulnar synostosis, bilateral subset: ordo_clinical_subtype {source="Orphanet:295219"} synonym: "radio-ulnar fusion, bilateral" EXACT [Orphanet:295219] -xref: ICD10CM:Q74.0 {source="ORDO:295219/attributed", source="ORDO:295219/ntbt", source="Orphanet:295219"} +xref: ICD10CM:Q74.0 {source="Orphanet:295219/attributed", source="Orphanet:295219/ntbt", source="Orphanet:295219"} xref: Orphanet:295219 {source="MONDO:equivalentTo"} xref: UMLS:CN203291 {source="MONDO:equivalentTo"} is_a: MONDO:0017985 {source="Orphanet:295219"} ! congenital radioulnar synostosis @@ -340175,7 +340016,7 @@ is_a: MONDO:0017985 {source="Orphanet:295219"} ! congenital radioulnar synostosi id: MONDO:0017556 name: Madelung deformity, unilateral subset: ordo_clinical_subtype {source="Orphanet:295221"} -xref: ICD10CM:Q74.0 {source="Orphanet:295221", source="ORDO:295221/attributed", source="ORDO:295221/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:295221/attributed", source="Orphanet:295221/ntbt", source="Orphanet:295221"} xref: Orphanet:295221 {source="MONDO:equivalentTo"} is_a: MONDO:0018154 {source="Orphanet:295221"} ! Madelung deformity @@ -340183,7 +340024,7 @@ is_a: MONDO:0018154 {source="Orphanet:295221"} ! Madelung deformity id: MONDO:0017557 name: Madelung deformity, bilateral subset: ordo_clinical_subtype {source="Orphanet:295223"} -xref: ICD10CM:Q74.0 {source="ORDO:295223/attributed", source="ORDO:295223/ntbt", source="Orphanet:295223"} +xref: ICD10CM:Q74.0 {source="Orphanet:295223", source="Orphanet:295223/attributed", source="Orphanet:295223/ntbt"} xref: Orphanet:295223 {source="MONDO:equivalentTo"} is_a: MONDO:0018154 {source="Orphanet:295223"} ! Madelung deformity @@ -340191,7 +340032,7 @@ is_a: MONDO:0018154 {source="Orphanet:295223"} ! Madelung deformity id: MONDO:0017558 name: congenital elbow dislocation, unilateral subset: ordo_clinical_subtype {source="Orphanet:295225"} -xref: ICD10CM:Q68.8 {source="ORDO:295225/attributed", source="ORDO:295225/ntbt", source="Orphanet:295225"} +xref: ICD10CM:Q68.8 {source="Orphanet:295225", source="Orphanet:295225/attributed", source="Orphanet:295225/ntbt"} xref: Orphanet:295225 {source="MONDO:equivalentTo"} is_a: MONDO:0017469 {source="Orphanet:295225"} ! congenital elbow dislocation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -340201,7 +340042,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017559 name: congenital elbow dislocation, bilateral subset: ordo_clinical_subtype {source="Orphanet:295227"} -xref: ICD10CM:Q68.8 {source="ORDO:295227/attributed", source="ORDO:295227/ntbt", source="Orphanet:295227"} +xref: ICD10CM:Q68.8 {source="Orphanet:295227", source="Orphanet:295227/attributed", source="Orphanet:295227/ntbt"} xref: Orphanet:295227 {source="MONDO:equivalentTo"} is_a: MONDO:0017469 {source="Orphanet:295227"} ! congenital elbow dislocation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -340215,12 +340056,12 @@ subset: ordo_clinical_subtype {source="Orphanet:295229"} synonym: "genu recurvatum" EXACT [NCIT:C103184] synonym: "hyperextension deformity of knee" EXACT [NCIT:C103184] synonym: "hyperextension of knee deformity" EXACT [NCIT:C103184] -xref: ICD10CM:Q68.2 {source="ORDO:295229/inclusion", source="Orphanet:295229", source="ORDO:295229/ntbt"} +xref: ICD10CM:Q68.2 {source="Orphanet:295229/ntbt", source="Orphanet:295229/inclusion", source="Orphanet:295229"} xref: ICD9:754.40 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C103184 {source="MONDO:equivalentTo"} xref: Orphanet:295229 {source="MONDO:equivalentTo"} xref: SCTID:205063003 {source="MONDO:equivalentTo"} -xref: UMLS:C0152235 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295229", source="ORDO:295229/e"} +xref: UMLS:C0152235 {source="Orphanet:295229/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295229"} is_a: MONDO:0017470 {source="Orphanet:295229"} ! congenital knee dislocation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -340229,7 +340070,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017561 name: congenital genu flexum subset: ordo_clinical_subtype {source="Orphanet:295232"} -xref: ICD10CM:Q68.2 {source="Orphanet:295232", source="ORDO:295232/attributed", source="ORDO:295232/ntbt"} +xref: ICD10CM:Q68.2 {source="Orphanet:295232/attributed", source="Orphanet:295232/ntbt", source="Orphanet:295232"} xref: Orphanet:295232 {source="MONDO:equivalentTo"} is_a: MONDO:0017470 {source="Orphanet:295232"} ! congenital knee dislocation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -340239,7 +340080,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017562 name: congenital patella dislocation, unilateral subset: ordo_clinical_subtype {source="Orphanet:295234"} -xref: ICD10CM:Q74.1 {source="ORDO:295234/attributed", source="ORDO:295234/ntbt", source="Orphanet:295234"} +xref: ICD10CM:Q74.1 {source="Orphanet:295234", source="Orphanet:295234/attributed", source="Orphanet:295234/ntbt"} xref: Orphanet:295234 {source="MONDO:equivalentTo"} is_a: MONDO:0017471 {source="Orphanet:295234"} ! congenital patella dislocation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -340249,7 +340090,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017563 name: congenital patella dislocation, bilateral subset: ordo_clinical_subtype {source="Orphanet:295237"} -xref: ICD10CM:Q74.1 {source="ORDO:295237/attributed", source="ORDO:295237/ntbt", source="Orphanet:295237"} +xref: ICD10CM:Q74.1 {source="Orphanet:295237/attributed", source="Orphanet:295237/ntbt", source="Orphanet:295237"} xref: Orphanet:295237 {source="MONDO:equivalentTo"} is_a: MONDO:0017471 {source="Orphanet:295237"} ! congenital patella dislocation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -340260,7 +340101,7 @@ id: MONDO:0017564 name: macrodactyly of fingers, unilateral subset: ordo_clinical_subtype {source="Orphanet:295239"} synonym: "macrodactyly of hand, unilateral" EXACT [Orphanet:295239] -xref: ICD10CM:Q74.0 {source="ORDO:295239/attributed", source="ORDO:295239/ntbt", source="Orphanet:295239"} +xref: ICD10CM:Q74.0 {source="Orphanet:295239/attributed", source="Orphanet:295239/ntbt", source="Orphanet:295239"} xref: Orphanet:295239 {source="MONDO:equivalentTo"} is_a: MONDO:0017474 {source="Orphanet:295239"} ! macrodactyly of fingers @@ -340269,7 +340110,7 @@ id: MONDO:0017565 name: macrodactyly of fingers, bilateral subset: ordo_clinical_subtype {source="Orphanet:295241"} synonym: "macrodactyly of hand, bilateral" EXACT [Orphanet:295241] -xref: ICD10CM:Q74.0 {source="Orphanet:295241", source="ORDO:295241/attributed", source="ORDO:295241/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:295241", source="Orphanet:295241/attributed", source="Orphanet:295241/ntbt"} xref: Orphanet:295241 {source="MONDO:equivalentTo"} is_a: MONDO:0017474 {source="Orphanet:295241"} ! macrodactyly of fingers @@ -340278,7 +340119,7 @@ id: MONDO:0017566 name: macrodactyly of toes, unilateral subset: ordo_clinical_subtype {source="Orphanet:295243"} synonym: "macrodactyly of foot, unilateral" EXACT [Orphanet:295243] -xref: ICD10CM:Q74.2 {source="Orphanet:295243", source="ORDO:295243/attributed", source="ORDO:295243/ntbt"} +xref: ICD10CM:Q74.2 {source="Orphanet:295243/attributed", source="Orphanet:295243/ntbt", source="Orphanet:295243"} xref: Orphanet:295243 {source="MONDO:equivalentTo"} is_a: MONDO:0017475 {source="Orphanet:295243"} ! macrodactyly of toes @@ -340287,7 +340128,7 @@ id: MONDO:0017567 name: macrodactyly of toes, bilateral subset: ordo_clinical_subtype {source="Orphanet:295245"} synonym: "macrodactyly of foot, bilateral" EXACT [Orphanet:295245] -xref: ICD10CM:Q74.2 {source="ORDO:295245/attributed", source="ORDO:295245/ntbt", source="Orphanet:295245"} +xref: ICD10CM:Q74.2 {source="Orphanet:295245", source="Orphanet:295245/attributed", source="Orphanet:295245/ntbt"} xref: Orphanet:295245 {source="MONDO:equivalentTo"} is_a: MONDO:0017475 {source="Orphanet:295245"} ! macrodactyly of toes @@ -340299,11 +340140,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2956"} synonym: "acrodysplasia scoliosis" EXACT [Orphanet:2956] synonym: "brachydactyly-scoliosis-carpal fusion syndrome" EXACT [Orphanet:2956] xref: GARD:0000491 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:2956/attributed", source="ORDO:2956/ntbt", source="Orphanet:2956"} -xref: MESH:C538180 {source="ORDO:2956/e", source="Orphanet:2956"} -xref: MESH:C538277 {source="ORDO:2956/e", source="Orphanet:2956"} +xref: ICD10CM:Q87.8 {source="Orphanet:2956/attributed", source="Orphanet:2956/ntbt", source="Orphanet:2956"} +xref: MESH:C538180 {source="Orphanet:2956/e", source="Orphanet:2956"} +xref: MESH:C538277 {source="Orphanet:2956/e", source="Orphanet:2956"} xref: Orphanet:2956 {source="MONDO:equivalentTo"} -xref: UMLS:C2931761 {source="MONDO:equivalentTo", source="ORDO:2956/e", source="Orphanet:2956"} +xref: UMLS:C2931761 {source="Orphanet:2956/e", source="MONDO:equivalentTo", source="Orphanet:2956"} xref: UMLS:C2931790 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2956"} xref: UMLS:CN203304 {source="MONDO:equivalentTo"} is_a: MONDO:0018234 {source="Orphanet:2956", source="Orphanet:2956/inferred"} ! dysostosis @@ -340326,15 +340167,15 @@ synonym: "progeroid syndrome, de Barsy type" RELATED [GARD:0000049] xref: DOID:0070143 {source="MONDO:equivalentTo"} xref: GARD:0000049 {source="MONDO:equivalentTo"} xref: GARD:49 {source="DOID:0070143"} -xref: ICD10CM:Q87.8 {source="Orphanet:2962", source="ORDO:2962/attributed", source="ORDO:2962/ntbt"} -xref: MESH:C535990 {source="Orphanet:2962", source="ORDO:2962/e", source="MONDO:equivalentTo"} -xref: OMIM:219150 {source="Orphanet:2962", source="ORDO:2962/btnt", source="GARD:0000049", source="MONDO:superClassOf"} -xref: OMIM:614438 {source="Orphanet:2962", source="ORDO:2962/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q87.8 {source="Orphanet:2962/attributed", source="Orphanet:2962/ntbt", source="Orphanet:2962"} +xref: MESH:C535990 {source="Orphanet:2962", source="MONDO:equivalentTo", source="Orphanet:2962/e"} +xref: OMIM:219150 {source="Orphanet:2962/btnt", source="Orphanet:2962", source="GARD:0000049", source="MONDO:superClassOf"} +xref: OMIM:614438 {source="Orphanet:2962/btnt", source="Orphanet:2962", source="MONDO:superClassOf"} xref: Orphanet:2962 {source="DOID:0070143", source="MONDO:equivalentTo", source="GARD:0000049"} xref: PMID:18388779 {source="DOID:0070143"} xref: SCTID:238826008 {source="DOID:0070143", source="MONDO:equivalentTo"} xref: SCTID:59252009 {source="DOID:0070143", source="MONDO:superClassOf"} -xref: UMLS:C0268354 {source="DOID:0070143", source="Orphanet:2962", source="ORDO:2962/e", source="GARD:0000049", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268354 {source="DOID:0070143", source="Orphanet:2962", source="GARD:0000049", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2962/e"} is_a: MONDO:0006025 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal recessive disease is_a: MONDO:0019303 {source="Orphanet:2962"} ! premature aging syndrome relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:2962"} ! obsolete rare hereditary metabolic disease with peripheral neuropathy @@ -340355,15 +340196,15 @@ synonym: "congenital leukocyte adherence deficiency" EXACT [DOID:6612] synonym: "LAD" BROAD ABBREVIATION [Orphanet:2968] xref: DOID:6612 {source="MONDO:equivalentTo"} xref: GARD:0009544 {source="MONDO:equivalentTo"} -xref: ICD10CM:D84.8 {source="ORDO:2968/attributed", source="ORDO:2968/ntbt", source="DOID:6612", source="Orphanet:2968"} -xref: MESH:D018370 {source="DOID:6612", source="Orphanet:2968", source="ORDO:2968/e"} +xref: ICD10CM:D84.8 {source="DOID:6612", source="Orphanet:2968", source="Orphanet:2968/attributed", source="Orphanet:2968/ntbt"} +xref: MESH:D018370 {source="Orphanet:2968/e", source="DOID:6612", source="Orphanet:2968"} xref: NCIT:C27874 {source="DOID:6612", source="MONDO:equivalentTo"} -xref: OMIM:116920 {source="ORDO:2968/btnt", source="MONDO:superClassOf", source="Orphanet:2968"} -xref: OMIM:266265 {source="ORDO:2968/btnt", source="DOID:6612", source="MONDO:superClassOf", source="Orphanet:2968"} -xref: OMIM:612840 {source="ORDO:2968/btnt", source="MONDO:superClassOf", source="Orphanet:2968"} +xref: OMIM:116920 {source="MONDO:superClassOf", source="Orphanet:2968", source="Orphanet:2968/btnt"} +xref: OMIM:266265 {source="DOID:6612", source="MONDO:superClassOf", source="Orphanet:2968", source="Orphanet:2968/btnt"} +xref: OMIM:612840 {source="MONDO:superClassOf", source="Orphanet:2968", source="Orphanet:2968/btnt"} xref: Orphanet:2968 {source="DOID:6612", source="MONDO:equivalentTo"} xref: SCTID:77358003 {source="DOID:6612", source="MONDO:equivalentTo"} -xref: UMLS:C0242597 {source="DOID:6612", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2968", source="ORDO:2968/e"} +xref: UMLS:C0242597 {source="Orphanet:2968/e", source="DOID:6612", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2968"} xref: UMLS:C0272187 {source="MONDO:equivalentTo", source="NCIT:C27874"} xref: UMLS:C0398738 {source="MONDO:superClassOf", source="Orphanet:2968"} xref: UMLS:C2064642 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009544"} @@ -340382,11 +340223,11 @@ synonym: "Proteus like syndrome intellectual disability eye defect" RELATED [GAR synonym: "Proteus like syndrome mental retardation eye defect" RELATED DEPRECATED [GARD:0004525] xref: GARD:0004525 {source="MONDO:equivalentTo"} xref: GARD:0012801 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.3 {source="ORDO:2969/attributed", source="ORDO:2969/ntbt", source="Orphanet:2969"} -xref: OMIM:158350 {source="MONDO:subClassOf", source="ORDO:2969/ntbt", source="MONDO:relatedTo", source="Orphanet:2969"} +xref: ICD10CM:Q87.3 {source="Orphanet:2969/attributed", source="Orphanet:2969/ntbt", source="Orphanet:2969"} +xref: OMIM:158350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:2969/ntbt", source="Orphanet:2969"} xref: Orphanet:2969 {source="MONDO:equivalentTo"} xref: SCTID:716862002 {source="MONDO:equivalentTo"} -xref: UMLS:C1866398 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2969/e", source="Orphanet:2969"} +xref: UMLS:C1866398 {source="Orphanet:2969/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2969"} is_a: MONDO:0015950 {source="Orphanet:2969"} ! inherited skin tumor relationship: disease_shares_features_of MONDO:0008318 ! Proteus syndrome property_value: confidence "1.14975845410628" xsd:double @@ -340409,18 +340250,18 @@ synonym: "Western European tick-borne encephalitis" EXACT [DOID:0050175] xref: DOID:0050175 {source="MONDO:equivalentTo"} xref: EFO:1001309 {source="MONDO:equivalentTo"} xref: GARD:0005216 {source="MONDO:equivalentTo"} -xref: ICD10CM:A84.0 {source="ORDO:297/btnt", source="Orphanet:297"} -xref: ICD10CM:A84.1 {source="ORDO:297/btnt", source="Orphanet:297", source="DOID:0050175"} -xref: ICD10CM:A84.8 {source="ORDO:297/btnt", source="Orphanet:297"} -xref: ICD10CM:A84.9 {source="ORDO:297/btnt", source="Orphanet:297"} +xref: ICD10CM:A84.0 {source="Orphanet:297/btnt", source="Orphanet:297"} +xref: ICD10CM:A84.1 {source="Orphanet:297/btnt", source="Orphanet:297", source="DOID:0050175"} +xref: ICD10CM:A84.8 {source="Orphanet:297/btnt", source="Orphanet:297"} +xref: ICD10CM:A84.9 {source="Orphanet:297/btnt", source="Orphanet:297"} xref: ICD9:063.2 {source="DOID:0050175"} -xref: MedDRA:10043848 {source="ORDO:297/e", source="Orphanet:297"} -xref: MESH:D004675 {source="MONDO:equivalentTo", source="ORDO:297/e", source="Orphanet:297", source="DOID:0050175"} +xref: MedDRA:10043848 {source="Orphanet:297/e", source="Orphanet:297"} +xref: MESH:D004675 {source="Orphanet:297/e", source="MONDO:equivalentTo", source="Orphanet:297", source="DOID:0050175"} xref: NCIT:C34579 {source="MONDO:equivalentTo"} xref: Orphanet:297 {source="MONDO:equivalentTo"} xref: SCTID:16901001 {source="DOID:0050175"} xref: UMLS:C0014054 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050175"} -xref: UMLS:C0014061 {source="MONDO:equivalentTo", source="ORDO:297/e", source="Orphanet:297"} +xref: UMLS:C0014061 {source="Orphanet:297/e", source="MONDO:equivalentTo", source="Orphanet:297"} is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C34579", source="Orphanet:297"} ! viral encephalitis is_a: MONDO:0020067 {source="MESH:D004675/inferred", source="MONDO:Redundant", source="NCIT:C34579/inferred", source="Orphanet:297", source="indirect"} ! infectious encephalitis is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -340439,7 +340280,7 @@ name: 46,XX disorder of sex development-anorectal anomalies syndrome def: "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." [Orphanet:2973] subset: ordo_malformation_syndrome {source="Orphanet:2973"} synonym: "female pseudohermaphroditism-anorectal anomalies syndrome" EXACT [Orphanet:2973] -xref: ICD10CM:Q56.2 {source="Orphanet:2973", source="ORDO:2973/attributed", source="ORDO:2973/ntbt"} +xref: ICD10CM:Q56.2 {source="Orphanet:2973/attributed", source="Orphanet:2973/ntbt", source="Orphanet:2973"} xref: Orphanet:2973 {source="MONDO:equivalentTo"} xref: UMLS:CN203326 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:2973"} ! syndromic anorectal malformation @@ -340456,14 +340297,14 @@ synonym: "chronic intestinal pseudo-obstruction" EXACT [MONDO:design_pattern] synonym: "cipo" EXACT [Orphanet:2978] synonym: "intestinal pseudo-obstruction, chronic" EXACT [MONDO:patterns/chronic] xref: GARD:0012744 {source="MONDO:equivalentTo"} -xref: ICD10CM:K59.8 {source="ORDO:2978/attributed", source="ORDO:2978/ntbt", source="Orphanet:2978"} -xref: OMIM:243180 {source="ORDO:2978/btnt", source="MONDO:superClassOf", source="Orphanet:2978"} -xref: OMIM:300048 {source="ORDO:2978/btnt", source="MONDO:superClassOf", source="Orphanet:2978"} -xref: OMIM:601223 {source="ORDO:2978/btnt", source="MONDO:superClassOf", source="Orphanet:2978"} -xref: OMIM:609629 {source="ORDO:2978/btnt", source="MONDO:superClassOf", source="Orphanet:2978"} +xref: ICD10CM:K59.8 {source="Orphanet:2978/attributed", source="Orphanet:2978/ntbt", source="Orphanet:2978"} +xref: OMIM:243180 {source="MONDO:superClassOf", source="Orphanet:2978/btnt", source="Orphanet:2978"} +xref: OMIM:300048 {source="MONDO:superClassOf", source="Orphanet:2978/btnt", source="Orphanet:2978"} +xref: OMIM:601223 {source="MONDO:superClassOf", source="Orphanet:2978/btnt", source="Orphanet:2978"} +xref: OMIM:609629 {source="MONDO:superClassOf", source="Orphanet:2978/btnt", source="Orphanet:2978"} xref: Orphanet:2978 {source="MONDO:equivalentTo"} xref: SCTID:235828008 {source="MONDO:equivalentTo"} -xref: UMLS:C0238062 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:2978/e", source="Orphanet:2978"} +xref: UMLS:C0238062 {source="Orphanet:2978/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2978"} is_a: MONDO:0021189 {source="Orphanet:2978"} ! intestinal motility disease intersection_of: MONDO:0002803 ! intestinal pseudo-obstruction intersection_of: has_modifier PATO:0001863 ! chronic @@ -340488,12 +340329,12 @@ synonym: "POLIP" RELATED ABBREVIATION [GARD:0009920] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" RELATED [GARD:0009920] synonym: "thymidine phosphorylase deficiency" RELATED [GARD:0009920] xref: GARD:0009920 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:298/attributed", source="ORDO:298/ntbt", source="Orphanet:298"} +xref: ICD10CM:G71.3 {source="Orphanet:298/attributed", source="Orphanet:298/ntbt", source="Orphanet:298"} xref: MESH:C537477 {source="MONDO:equivalentTo"} xref: NCIT:C119678 {source="MONDO:equivalentTo"} -xref: OMIM:603041 {source="MONDO:subClassOf", source="ORDO:298/ntbt", source="MONDO:relatedTo", source="Orphanet:298", source="GARD:0009920"} -xref: OMIM:612075 {source="MONDO:subClassOf", source="ORDO:298/ntbt", source="MONDO:relatedTo", source="Orphanet:298"} -xref: OMIM:613662 {source="MONDO:subClassOf", source="ORDO:298/ntbt", source="MONDO:relatedTo", source="Orphanet:298"} +xref: OMIM:603041 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:298/ntbt", source="Orphanet:298", source="GARD:0009920"} +xref: OMIM:612075 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:298/ntbt", source="Orphanet:298"} +xref: OMIM:613662 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:298/ntbt", source="Orphanet:298"} xref: Orphanet:298 {source="MONDO:equivalentTo", source="GARD:0009920"} xref: SCTID:718214007 {source="MONDO:equivalentTo"} xref: UMLS:C0872218 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C119678", source="Orphanet:298"} @@ -340514,13 +340355,13 @@ synonym: "46,XX differences of Sex development" EXACT [NCIT:C127169] synonym: "46,XX disorders of Sex development" EXACT [NCIT:C127169] synonym: "46,XX DSD" EXACT [Orphanet:2982] synonym: "female pseudohermaphroditism" EXACT [Orphanet:2982] -xref: ICD10CM:Q56.2 {source="Orphanet:2982", source="ORDO:2982/ntbt"} -xref: MESH:D058489 {source="Orphanet:2982", source="ORDO:2982/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q56.2 {source="Orphanet:2982", source="Orphanet:2982/ntbt"} +xref: MESH:D058489 {source="Orphanet:2982", source="MONDO:equivalentTo", source="Orphanet:2982/e"} xref: NCIT:C127169 {source="MONDO:equivalentTo"} xref: Orphanet:2982 {source="MONDO:equivalentTo"} xref: SCTID:8800006 {source="MONDO:equivalentTo"} xref: UMLS:C0238394 {source="Orphanet:2982", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2936403 {source="Orphanet:2982", source="ORDO:2982/e", source="MONDO:equivalentTo", source="NCIT:C127169"} +xref: UMLS:C2936403 {source="Orphanet:2982", source="MONDO:equivalentTo", source="NCIT:C127169", source="Orphanet:2982/e"} xref: UMLS:CN776919 {source="MONDO:equivalentTo"} is_a: MONDO:0002145 {source="MESH:D058489", source="NCIT:C127169", source="Orphanet:2982"} ! difference of sexual differentiation @@ -340536,7 +340377,7 @@ synonym: "Shapiro's syndrome" RELATED [GARD:0004815] synonym: "spontaneous periodic hypothermia syndrome" RELATED [GARD:0004815] synonym: "spontaneous recurrent hypothermia syndrome" RELATED [GARD:0004815] xref: GARD:0004815 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G90.8 {source="ORDO:29822/ntbt", source="Orphanet:29822"} +xref: ICD10CM:G90.8 {source="Orphanet:29822/ntbt", source="Orphanet:29822"} xref: MESH:C537594 {source="MONDO:equivalentTo"} xref: Orphanet:29822 {source="MONDO:equivalentTo"} xref: UMLS:C2931542 {source="MONDO:equivalentTo", source="Orphanet:29822"} @@ -340570,10 +340411,10 @@ synonym: "trigonocephaly ptosis intellectual disability" RELATED [GARD:0005279] synonym: "trigonocephaly ptosis mental retardation" RELATED DEPRECATED [GARD:0005279] xref: DOID:0060229 {source="MONDO:equivalentTo"} xref: GARD:0005279 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:2995", source="ORDO:2995/attributed", source="ORDO:2995/ntbt", source="DOID:0060229"} +xref: ICD10CM:Q87.0 {source="Orphanet:2995/attributed", source="Orphanet:2995/ntbt", source="Orphanet:2995", source="DOID:0060229"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:243310 {source="GARD:0005279", source="Orphanet:2995", source="ORDO:2995/btnt", source="MONDO:superClassOf", source="DOID:0060229"} -xref: OMIM:614583 {source="Orphanet:2995", source="ORDO:2995/btnt", source="MONDO:superClassOf", source="DOID:0060229"} +xref: OMIM:243310 {source="GARD:0005279", source="Orphanet:2995/btnt", source="Orphanet:2995", source="MONDO:superClassOf", source="DOID:0060229"} +xref: OMIM:614583 {source="Orphanet:2995/btnt", source="Orphanet:2995", source="MONDO:superClassOf", source="DOID:0060229"} xref: OMIMPS:243310 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2995 {source="MONDO:equivalentTo"} xref: SCTID:702410002 {source="MONDO:equivalentTo"} @@ -340610,8 +340451,8 @@ synonym: "hereditary infantile gigantism" EXACT [Orphanet:300373] synonym: "hereditary pituitary hyperplasia" EXACT [Orphanet:300373] synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [Orphanet:300373] synonym: "X-LAG (X-linked acrogigantism)" EXACT [Orphanet:300373] -xref: ICD10CM:E22.0 {source="ORDO:300373/attributed", source="ORDO:300373/ntbt", source="Orphanet:300373"} -xref: OMIM:300942 {source="MONDO:superClassOf", source="ORDO:300373/btnt", source="Orphanet:300373"} +xref: ICD10CM:E22.0 {source="Orphanet:300373/attributed", source="Orphanet:300373/ntbt", source="Orphanet:300373"} +xref: OMIM:300942 {source="Orphanet:300373/btnt", source="MONDO:superClassOf", source="Orphanet:300373"} xref: Orphanet:300373 {source="MONDO:equivalentTo"} xref: UMLS:CN203384 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted", source="MONDO:0015968-obsoleted"} ! endocrine system disorder @@ -340638,7 +340479,7 @@ synonym: "pituitary gland carcinoma" EXACT [NCIT:C4536] synonym: "PTCA" RELATED ABBREVIATION [ONCOTREE:PTCA] xref: DOID:4916 {source="MONDO:equivalentTo"} xref: HP:0011763 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C75.1 {source="ORDO:300385/ntbt", source="Orphanet:300385"} +xref: ICD10CM:C75.1 {source="Orphanet:300385/ntbt", source="Orphanet:300385"} xref: ICDO:8272/3 {source="NCIT:C4536"} xref: MESH:D010911 {source="DOID:4916"} xref: NCIT:C4536 {source="MONDO:equivalentTo", source="DOID:4916"} @@ -340646,7 +340487,7 @@ xref: ONCOTREE:PTCA {source="MONDO:equivalentTo"} xref: Orphanet:300385 {source="MONDO:equivalentTo"} xref: SCTID:128665000 {source="DOID:4916"} xref: SCTID:254955001 {source="MONDO:equivalentTo", source="DOID:4916"} -xref: UMLS:C0346300 {source="MONDO:equivalentTo", source="DOID:4916", source="NCIT:C4536", source="Orphanet:300385", source="ORDO:300385/e"} +xref: UMLS:C0346300 {source="Orphanet:300385/e", source="MONDO:equivalentTo", source="DOID:4916", source="NCIT:C4536", source="Orphanet:300385"} is_a: MONDO:0002109 {source="DOID:4916", source="MONDO:Redundant", source="NCIT:C4536", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary cancer is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C4536"} ! adenocarcinoma is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4536/inferred", source="Orphanet:300385", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pituitary tumor @@ -340660,7 +340501,7 @@ id: MONDO:0017583 name: mirror polydactyly-vertebral segmentation-limbs defects syndrome def: "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." [Orphanet:3004] subset: ordo_malformation_syndrome {source="Orphanet:3004"} -xref: ICD10CM:Q87.2 {source="Orphanet:3004", source="ORDO:3004/attributed", source="ORDO:3004/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:3004", source="Orphanet:3004/attributed", source="Orphanet:3004/ntbt"} xref: Orphanet:3004 {source="MONDO:equivalentTo"} xref: UMLS:CN203387 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:3004"} ! syndromic disease @@ -340760,13 +340601,13 @@ synonym: "carcinoma of hepatopancreatic ampulla" EXACT [MONDO:patterns/carcinoma synonym: "hepatopancreatic ampulla carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4932 {source="MONDO:equivalentTo"} xref: EFO:1000079 {source="MONDO:equivalentTo"} -xref: ICD10CM:C24.1 {source="ORDO:300557/ntbt", source="Orphanet:300557"} -xref: MedDRA:10048853 {source="ORDO:300557/e", source="Orphanet:300557"} +xref: ICD10CM:C24.1 {source="Orphanet:300557", source="Orphanet:300557/ntbt"} +xref: MedDRA:10048853 {source="Orphanet:300557", source="Orphanet:300557/e"} xref: NCIT:C3908 {source="DOID:4932", source="MONDO:equivalentTo", source="EFO:1000079"} xref: ONCOTREE:AMPCA {source="MONDO:equivalentTo"} xref: Orphanet:300557 {source="MONDO:equivalentTo"} xref: SCTID:254609000 {source="DOID:4932", source="MONDO:equivalentTo"} -xref: UMLS:C0262401 {source="ORDO:300557/e", source="DOID:4932", source="MONDO:equivalentTo", source="NCIT:C3908", source="Orphanet:300557"} +xref: UMLS:C0262401 {source="DOID:4932", source="MONDO:equivalentTo", source="NCIT:C3908", source="Orphanet:300557", source="Orphanet:300557/e"} is_a: MONDO:0000919 {source="DOID:4932", source="MONDO:Redundant", source="NCIT:C3908", source="linkedlifedata/inferred"} ! ampulla of vater cancer is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3908", source="indirect"} ! digestive system carcinoma is_a: MONDO:0021335 {source="MONDO:Redundant", source="linkedlifedata"} ! carcinoma of duodenum @@ -340778,7 +340619,7 @@ id: MONDO:0017591 name: combined pulmonary fibrosis-emphysema syndrome subset: ordo_disease {source="Orphanet:300564"} synonym: "CPFE" EXACT ABBREVIATION [Orphanet:300564] -xref: ICD10CM:J84.1 {source="Orphanet:300564", source="ORDO:300564/ntbt"} +xref: ICD10CM:J84.1 {source="Orphanet:300564/ntbt", source="Orphanet:300564"} xref: Orphanet:300564 {source="MONDO:equivalentTo"} xref: UMLS:CN203401 {source="MONDO:equivalentTo"} is_a: MONDO:0002429 {source="Orphanet:300564"} ! idiopathic interstitial pneumonia @@ -340788,9 +340629,9 @@ id: MONDO:0017592 name: staphylococcal toxemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:300579"} -xref: MedDRA:10041932 {source="ORDO:300579/e", source="Orphanet:300579"} +xref: MedDRA:10041932 {source="Orphanet:300579", source="Orphanet:300579/e"} xref: Orphanet:300579 {source="MONDO:equivalentTo"} -xref: UMLS:C0854511 {source="ORDO:300579/e", source="MONDO:equivalentTo", source="Orphanet:300579"} +xref: UMLS:C0854511 {source="MONDO:equivalentTo", source="Orphanet:300579", source="Orphanet:300579/e"} is_a: MONDO:0005113 {source="Orphanet:300579"} ! bacterial infectious disease relationship: disease_has_infectious_agent NCBITaxon:1279 ! Staphylococcus relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare @@ -340806,10 +340647,10 @@ synonym: "JALS" EXACT ABBREVIATION [Orphanet:300605] synonym: "juvenile Charcot disease" EXACT [Orphanet:300605] synonym: "juvenile Lou Gehrig disease" EXACT [Orphanet:300605] xref: GARD:0011901 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:300605/attributed", source="ORDO:300605/ntbt", source="Orphanet:300605"} -xref: OMIM:205100 {source="ORDO:300605/btnt", source="MONDO:superClassOf", source="Orphanet:300605"} -xref: OMIM:602099 {source="ORDO:300605/btnt", source="MONDO:superClassOf", source="Orphanet:300605"} -xref: OMIM:614373 {source="ORDO:300605/btnt", source="MONDO:superClassOf", source="Orphanet:300605"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:300605/attributed", source="Orphanet:300605/ntbt", source="Orphanet:300605"} +xref: OMIM:205100 {source="MONDO:superClassOf", source="Orphanet:300605/btnt", source="Orphanet:300605"} +xref: OMIM:602099 {source="MONDO:superClassOf", source="Orphanet:300605/btnt", source="Orphanet:300605"} +xref: OMIM:614373 {source="MONDO:superClassOf", source="Orphanet:300605/btnt", source="Orphanet:300605"} xref: Orphanet:300605 {source="MONDO:equivalentTo"} xref: SCTID:718555006 {source="MONDO:equivalentTo"} xref: UMLS:C3468114 {source="MONDO:equivalentTo"} @@ -340854,7 +340695,7 @@ synonym: "diffuse large B-cell lymphoma of central nervous system" EXACT [MONDO: synonym: "DLBCL of the CNS" EXACT [Orphanet:300849] synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [NCIT:C71720] synonym: "primary DLBCL of the CNS" EXACT [NCIT:C71720] -xref: ICD10CM:C83.3 {source="ORDO:300849/ntbt", source="Orphanet:300849"} +xref: ICD10CM:C83.3 {source="Orphanet:300849/ntbt", source="Orphanet:300849"} xref: ICDO:9680/3 {source="NCIT:C71720"} xref: NCIT:C71720 {source="DesignPattern", source="MONDO:equivalentTo"} xref: Orphanet:300849 {source="MONDO:equivalentTo"} @@ -340876,13 +340717,13 @@ synonym: "T-cell/histiocyte rich lymphoma" EXACT [NCIT:C9496] synonym: "T-cell/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496] synonym: "THRLBCL" EXACT ABBREVIATION [ONCOTREE:THRLBCL, Orphanet:300857] xref: GARD:0012257 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.3 {source="ORDO:300857/ntbt", source="Orphanet:300857"} +xref: ICD10CM:C83.3 {source="Orphanet:300857", source="Orphanet:300857/ntbt"} xref: ICDO:9680/3 {source="NCIT:C9496"} xref: ICDO:9688/3 {source="NCIT:C9496"} xref: NCIT:C9496 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:THRLBCL {source="MONDO:equivalentTo"} xref: Orphanet:300857 {source="MONDO:equivalentTo"} -xref: UMLS:C1321547 {source="NCIT:C9496", source="MONDO:equivalentTo", source="Orphanet:300857", source="ORDO:300857/e"} +xref: UMLS:C1321547 {source="NCIT:C9496", source="MONDO:equivalentTo", source="Orphanet:300857", source="Orphanet:300857/e"} is_a: MONDO:0018905 {source="NCIT:C9496", source="Orphanet:300857"} ! diffuse large B-cell lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma xsd:anyURI {source="GARD:0012257"} @@ -340901,14 +340742,14 @@ synonym: "primary cutaneous CD30 Positive anaplastic large cell lymphoma" EXACT synonym: "primary cutaneous CD30+ ALCL" EXACT [NCIT:C6860] synonym: "primary cutaneous CD30+ anaplastic large cell lymphoma" EXACT [NCIT:C6860] synonym: "regressive atypical histiocytosis" EXACT [Orphanet:300865] -xref: ICD10CM:C86.6 {source="ORDO:300865/ntbt", source="Orphanet:300865"} -xref: MedDRA:10065863 {source="ORDO:300865/e", source="Orphanet:300865"} +xref: ICD10CM:C86.6 {source="Orphanet:300865", source="Orphanet:300865/ntbt"} +xref: MedDRA:10065863 {source="Orphanet:300865", source="Orphanet:300865/e"} xref: MESH:D054446 {source="MONDO:equivalentTo"} xref: NCIT:C6860 {source="MONDO:equivalentTo"} xref: ONCOTREE:PCALCL {source="MONDO:equivalentTo"} xref: Orphanet:300865 {source="MONDO:equivalentTo"} -xref: UMLS:C1301362 {source="ORDO:300865/e", source="NCIT:C6860", source="MONDO:equivalentTo", source="Orphanet:300865"} -xref: UMLS:C1698767 {source="ORDO:300865/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:300865"} +xref: UMLS:C1301362 {source="NCIT:C6860", source="MONDO:equivalentTo", source="Orphanet:300865", source="Orphanet:300865/e"} +xref: UMLS:C1698767 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:300865", source="Orphanet:300865/e"} is_a: MONDO:0000607 {source="MESH:D054446", source="NCIT:C6860"} ! primary cutaneous T-cell non-Hodgkin lymphoma is_a: MONDO:0018897 {source="Orphanet:300865"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease is_a: MONDO:0020325 {source="NCIT:C6860"} ! anaplastic large cell lymphoma @@ -340920,7 +340761,7 @@ def: "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell subset: ordo_disease {source="Orphanet:300869"} synonym: "SDRPL" EXACT ABBREVIATION [ONCOTREE:SDRPL, Orphanet:300869] synonym: "splenic diffuse red pulp lymphoma" EXACT [Orphanet:300869] -xref: ICD10CM:C83.0 {source="ORDO:300869/ntbt", source="Orphanet:300869"} +xref: ICD10CM:C83.0 {source="Orphanet:300869/ntbt", source="Orphanet:300869"} xref: ICDO:9591/3 {source="NCIT:C80309"} xref: NCIT:C80309 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:SDRPL {source="MONDO:equivalentTo"} @@ -340942,14 +340783,14 @@ synonym: "leukemic reticuloendotheliosis variant" EXACT [Orphanet:300878] synonym: "prolymphocytic variant of hairy cell leukemia" EXACT [NCIT:C7401, Orphanet:300878] synonym: "prolymphocytic variant of HCL" EXACT [Orphanet:300878] xref: DOID:713 {source="MONDO:equivalentTo"} -xref: ICD10CM:C91.4 {source="ORDO:300878/ntbt", source="Orphanet:300878"} +xref: ICD10CM:C91.4 {source="Orphanet:300878", source="Orphanet:300878/ntbt"} xref: ICDO:9591/3 {source="NCIT:C7401"} -xref: MedDRA:10019054 {source="ORDO:300878/e", source="Orphanet:300878"} +xref: MedDRA:10019054 {source="Orphanet:300878", source="Orphanet:300878/e"} xref: NCIT:C7401 {source="DOID:713", source="MONDO:equivalentTo"} xref: Orphanet:300878 {source="MONDO:equivalentTo"} xref: SCTID:277568007 {source="DOID:713", source="MONDO:equivalentTo"} xref: SCTID:54087003 {source="DOID:713"} -xref: UMLS:C0349633 {source="DOID:713", source="MONDO:equivalentTo", source="ORDO:300878/e", source="NCIT:C7401", source="Orphanet:300878"} +xref: UMLS:C0349633 {source="DOID:713", source="MONDO:equivalentTo", source="NCIT:C7401", source="Orphanet:300878", source="Orphanet:300878/e"} is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7401", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C7401", source="indirect"} ! lymphoid leukemia is_a: MONDO:0017594 {source="MONDO:Redundant", source="Orphanet:300878", source="indirect"} ! indolent B-cell non-Hodgkin lymphoma @@ -340961,7 +340802,7 @@ name: diffuse large B-cell lymphoma with chronic inflammation def: "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." [Orphanet:300888] subset: ordo_disease {source="Orphanet:300888"} synonym: "DLBCL with chronic inflammation" EXACT [Orphanet:300888] -xref: ICD10CM:C83.3 {source="ORDO:300888/ntbt", source="Orphanet:300888"} +xref: ICD10CM:C83.3 {source="Orphanet:300888", source="Orphanet:300888/ntbt"} xref: Orphanet:300888 {source="MONDO:equivalentTo"} is_a: MONDO:0017343 {source="Orphanet:300888"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0018905 {source="Orphanet:300888"} ! diffuse large B-cell lymphoma @@ -340977,7 +340818,7 @@ synonym: "ALK+ anaplastic large cell lymphoma" EXACT [Orphanet:300895] synonym: "ALK-positive anaplastic large cell lymphoma" EXACT [NCIT:C37193] synonym: "ALKoma" EXACT [NCIT:C37193] synonym: "anaplastic large cell lymphoma, ALK-positive" EXACT [NCIT:C37193] -xref: ICD10CM:C84.6 {source="Orphanet:300895", source="ORDO:300895/e"} +xref: ICD10CM:C84.6 {source="Orphanet:300895", source="Orphanet:300895/e"} xref: ICDO:9714/3 {source="NCIT:C37193"} xref: NCIT:C37193 {source="MONDO:equivalentTo"} xref: Orphanet:300895 {source="MONDO:equivalentTo"} @@ -340995,11 +340836,11 @@ synonym: "ALK- anaplastic large cell lymphoma" EXACT [Orphanet:300903] synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194] synonym: "anaplastic large cell lymphoma, ALK-negative" EXACT [MONDO:0006083, NCIT:C37194] xref: EFO:1000083 {source="MONDO:equivalentTo"} -xref: ICD10CM:C84.7 {source="Orphanet:300903", source="ORDO:300903/e"} +xref: ICD10CM:C84.7 {source="Orphanet:300903/e", source="Orphanet:300903"} xref: ICDO:9702/3 {source="NCIT:C37194"} xref: NCIT:C37194 {source="MONDO:equivalentTo", source="EFO:1000083"} xref: Orphanet:300903 {source="MONDO:equivalentTo"} -xref: UMLS:C1332078 {source="MONDO:equivalentTo", source="Orphanet:300903", source="ORDO:300903/e", source="NCIT:C37194"} +xref: UMLS:C1332078 {source="Orphanet:300903/e", source="MONDO:equivalentTo", source="Orphanet:300903", source="NCIT:C37194"} is_a: MONDO:0020325 {source="EFO:1000083", source="NCIT:C37194", source="Orphanet:300903"} ! anaplastic large cell lymphoma [Term] @@ -341046,8 +340887,8 @@ synonym: "Hunt's syndrome (formerly)" RELATED [GARD:0007525] synonym: "Ramsay Hunt syndrome" EXACT [Orphanet:3020] synonym: "Ramsay Hunt syndrome type 2 (formerly)" RELATED [GARD:0007525] xref: GARD:0007525 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10EXP:B02.2+ {source="Orphanet:3020", source="ORDO:3020/ntbt"} -xref: ICD10EXP:G53.0* {source="Orphanet:3020", source="ORDO:3020/ntbt"} +xref: ICD10EXP:B02.2+ {source="Orphanet:3020/ntbt", source="Orphanet:3020"} +xref: ICD10EXP:G53.0* {source="Orphanet:3020/ntbt", source="Orphanet:3020"} xref: Orphanet:3020 {source="MONDO:equivalentTo"} xref: UMLS:C0017409 {source="MONDO:relatedTo", source="Orphanet:3020"} is_a: MONDO:0005108 {source="Orphanet:3020"} ! viral infectious disease @@ -341065,15 +340906,15 @@ synonym: "caudal dysplasia" EXACT [Orphanet:3027] synonym: "sacral agenesis syndrome" EXACT [Orphanet:3027] synonym: "sacral regression syndrome" EXACT [Orphanet:3027] xref: GARD:0006007 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q76.0 {source="Orphanet:3027", source="ORDO:3027/attributed", source="ORDO:3027/ntbt"} -xref: MedDRA:10054842 {source="ORDO:3027/e", source="Orphanet:3027"} -xref: MedDRA:10059387 {source="ORDO:3027/e", source="Orphanet:3027"} -xref: MedDRA:10068896 {source="ORDO:3027/e", source="Orphanet:3027"} +xref: ICD10CM:Q76.0 {source="Orphanet:3027/attributed", source="Orphanet:3027/ntbt", source="Orphanet:3027"} +xref: MedDRA:10054842 {source="Orphanet:3027", source="Orphanet:3027/e"} +xref: MedDRA:10059387 {source="Orphanet:3027", source="Orphanet:3027/e"} +xref: MedDRA:10068896 {source="Orphanet:3027", source="Orphanet:3027/e"} xref: NCIT:C124505 {source="MONDO:equivalentTo"} -xref: OMIM:600145 {source="MONDO:subClassOf", source="Orphanet:3027", source="ORDO:3027/ntbt"} +xref: OMIM:600145 {source="MONDO:subClassOf", source="Orphanet:3027/ntbt", source="Orphanet:3027"} xref: Orphanet:3027 {source="MONDO:equivalentTo"} -xref: UMLS:C0300948 {source="ORDO:3027/e", source="Orphanet:3027", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0344490 {source="ORDO:3027/e", source="Orphanet:3027", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0300948 {source="Orphanet:3027", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3027/e"} +xref: UMLS:C0344490 {source="Orphanet:3027", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3027/e"} xref: UMLS:C1838568 {source="MONDO:equivalentTo"} xref: UMLS:C1867774 {source="Orphanet:3027", source="MONDO:equivalentTo"} xref: UMLS:C2609260 {source="Orphanet:3027", source="MONDO:notFoundInDiseaseSubset"} @@ -341097,11 +340938,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:3033"} synonym: "primitive renal tubule syndrome" EXACT [Orphanet:3033] synonym: "renotubular dysgenesis" EXACT [Orphanet:3033] xref: GARD:0000379 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q63.8 {source="ORDO:3033/ntbt", source="Orphanet:3033"} -xref: OMIM:267430 {source="MONDO:superClassOf", source="ORDO:3033/btnt", source="Orphanet:3033"} +xref: ICD10CM:Q63.8 {source="Orphanet:3033/ntbt", source="Orphanet:3033"} +xref: OMIM:267430 {source="MONDO:superClassOf", source="Orphanet:3033/btnt", source="Orphanet:3033"} xref: Orphanet:3033 {source="MONDO:equivalentTo"} xref: SCTID:702397002 {source="MONDO:equivalentTo"} -xref: UMLS:C0266313 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3033", source="ORDO:3033/e"} +xref: UMLS:C0266313 {source="Orphanet:3033/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3033"} is_a: MONDO:0019720 {source="Orphanet:3033"} ! non-syndromic renal or urinary tract malformation [Term] @@ -341117,7 +340958,7 @@ synonym: "epidermolysis bullosa intraepidermic" RELATED [GARD:0010752] synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644] xref: DOID:4644 {source="MONDO:equivalentTo"} xref: GARD:0010752 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.0 {source="ORDO:304/e", source="Orphanet:304", source="DOID:4644", source="ORDO:304/specific", source="MONDO:equivalentTo"} +xref: ICD10CM:Q81.0 {source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="Orphanet:304/e", source="Orphanet:304/specific"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D016110 {source="DOID:4644", source="MONDO:equivalentTo"} xref: NCIT:C84692 {source="DOID:4644", source="MONDO:equivalentTo"} @@ -341131,7 +340972,7 @@ xref: OMIMPS:131760 {source="MONDO:equivalentTo"} xref: Orphanet:304 {source="MONDO:equivalentTo"} xref: SCTID:205585003 {source="DOID:4644"} xref: SCTID:67144006 {source="DOID:4644", source="MONDO:equivalentTo"} -xref: UMLS:C0079298 {source="ORDO:304/e", source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="NCIT:C84692"} +xref: UMLS:C0079298 {source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="NCIT:C84692", source="Orphanet:304/e"} is_a: MONDO:0006541 {source="DOID:4644", source="ICD10CM:Q81.0", source="MESH:D016110", source="MONDO:Redundant", source="NCIT:C84692", source="indirect", source="linkedlifedata"} ! epidermolysis bullosa is_a: MONDO:0019276 {source="Orphanet:304"} ! inherited epidermolysis bullosa relationship: has_modifier MONDO:0021152 {source="MONDO:equivalentTo"} ! inherited @@ -341186,14 +341027,14 @@ synonym: "JEB" EXACT ABBREVIATION [Orphanet:305] synonym: "junctional epidermolysis bullosa" EXACT CLINGEN_PREFERRED [] xref: DOID:3209 {source="MONDO:equivalentTo"} xref: GARD:0002152 {source="MONDO:equivalentTo"} -xref: MESH:D016109 {source="ORDO:305/e", source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209"} +xref: MESH:D016109 {source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209", source="Orphanet:305/e"} xref: NCIT:C90598 {source="MONDO:equivalentTo", source="DOID:3209"} xref: Orphanet:305 {source="MONDO:equivalentTo"} xref: SCTID:33662006 {source="MONDO:superClassOf", source="DOID:3209"} xref: SCTID:399971009 {source="DOID:3209"} xref: SCTID:76905008 {source="DOID:3209"} xref: SCTID:79855003 {source="MONDO:equivalentTo", source="DOID:3209"} -xref: UMLS:C0079301 {source="ORDO:305/e", source="NCIT:C90598", source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209"} +xref: UMLS:C0079301 {source="NCIT:C90598", source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209", source="Orphanet:305/e"} is_a: MONDO:0000001 {source="MONDO:0020014-obsoleted"} ! disease or disorder is_a: MONDO:0006541 {source="DOID:3209", source="MESH:D016109", source="MONDO:Redundant", source="NCIT:C90598", source="Orphanet:305", source="indirect", source="linkedlifedata/inferred"} ! epidermolysis bullosa is_a: MONDO:0019276 {source="MONDO:Redundant", source="Orphanet:305"} ! inherited epidermolysis bullosa @@ -341222,7 +341063,7 @@ synonym: "Sex-linked mental retardation, short stature, obesity and hypogonadism synonym: "X-linked intellectual disability - short stature – obesity" RELATED [GARD:0000345] synonym: "Young-Hughes syndrome" EXACT [Orphanet:3055] xref: GARD:0000345 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:3055/attributed", source="ORDO:3055/ntbt", source="Orphanet:3055"} +xref: ICD10CM:Q87.8 {source="Orphanet:3055/attributed", source="Orphanet:3055/ntbt", source="Orphanet:3055"} xref: MESH:C536715 {source="MONDO:equivalentTo"} xref: Orphanet:3055 {source="MONDO:equivalentTo"} xref: UMLS:C0796264 {source="MONDO:equivalentTo", source="Orphanet:3055"} @@ -341246,13 +341087,13 @@ synonym: "BFIS" EXACT ABBREVIATION [Orphanet:306] synonym: "seizures, benign familial infantile" EXACT [OMIMPS:601764] xref: DOID:0060169 {source="MONDO:equivalentTo"} xref: GARD:0000857 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="Orphanet:306", source="ORDO:306/attributed", source="ORDO:306/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:306/attributed", source="Orphanet:306/ntbt", source="Orphanet:306"} xref: ICD9:V17.2 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:601764 {source="ORDO:306/e", source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf"} -xref: OMIM:605751 {source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf", source="ORDO:306/btnt"} -xref: OMIM:607745 {source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf", source="ORDO:306/btnt"} -xref: OMIM:612627 {source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf", source="ORDO:306/btnt"} -xref: OMIM:617080 {source="Orphanet:306", source="MONDO:superClassOf", source="ORDO:306/btnt"} +xref: OMIM:601764 {source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf", source="Orphanet:306/e"} +xref: OMIM:605751 {source="Orphanet:306/btnt", source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf"} +xref: OMIM:607745 {source="Orphanet:306/btnt", source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf"} +xref: OMIM:612627 {source="Orphanet:306/btnt", source="DOID:0060169", source="Orphanet:306", source="MONDO:superClassOf"} +xref: OMIM:617080 {source="Orphanet:306/btnt", source="Orphanet:306", source="MONDO:superClassOf"} xref: OMIMPS:601764 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:306 {source="DOID:0060169", source="MONDO:equivalentTo"} xref: SCTID:230410004 {source="MONDO:equivalentTo"} @@ -341266,7 +341107,7 @@ relationship: has_modifier MONDO:0021152 {source="OMIMPS:601764"} ! inherited id: MONDO:0017616 name: X-linked intellectual disability, Schutz type subset: ordo_disease {source="Orphanet:3062"} -xref: ICD10CM:Q87.8 {source="ORDO:3062/attributed", source="ORDO:3062/ntbt", source="Orphanet:3062"} +xref: ICD10CM:Q87.8 {source="Orphanet:3062", source="Orphanet:3062/attributed", source="Orphanet:3062/ntbt"} xref: Orphanet:3062 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:3062"} ! X-linked syndromic intellectual disability @@ -341283,7 +341124,7 @@ synonym: "adult-onset immunodeficiency with acquired Anti-interferon-gamma autoa synonym: "adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" EXACT [Orphanet:306431] synonym: "anti-IFN-gamma autoantibody syndrome" RELATED [GARD:0011992] xref: GARD:0011992 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D84.8 {source="ORDO:306431/ntbt", source="Orphanet:306431"} +xref: ICD10CM:D84.8 {source="Orphanet:306431", source="Orphanet:306431/ntbt"} xref: Orphanet:306431 {source="MONDO:equivalentTo"} is_a: MONDO:0017769 {source="Orphanet:306431"} ! acquired immunodeficiency intersection_of: MONDO:0017769 ! acquired immunodeficiency @@ -341297,7 +341138,7 @@ synonym: "congenital sucrase-isomaltose malabsorption with starch intolerance" E synonym: "congenital sucrose intolerance with starch intolerance" EXACT [Orphanet:306436] synonym: "CSID with starch intolerance" EXACT [Orphanet:306436] synonym: "disaccharide intolerance with starch intolerance" EXACT [Orphanet:306436] -xref: ICD10CM:E74.3 {source="Orphanet:306436", source="ORDO:306436/attributed", source="ORDO:306436/ntbt"} +xref: ICD10CM:E74.3 {source="Orphanet:306436", source="Orphanet:306436/attributed", source="Orphanet:306436/ntbt"} xref: Orphanet:306436 {source="MONDO:equivalentTo"} is_a: MONDO:0009114 {source="Orphanet:306436"} ! congenital sucrase-isomaltase deficiency relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -341311,7 +341152,7 @@ synonym: "congenital sucrase-isomaltose malabsorption with minimal starch tolera synonym: "congenital sucrose intolerance with minimal starch tolerance" EXACT [Orphanet:306446] synonym: "CSID with minimal starch tolerance" EXACT [Orphanet:306446] synonym: "disaccharide intolerance with minimal starch tolerance" EXACT [Orphanet:306446] -xref: ICD10CM:E74.3 {source="ORDO:306446/attributed", source="ORDO:306446/ntbt", source="Orphanet:306446"} +xref: ICD10CM:E74.3 {source="Orphanet:306446/attributed", source="Orphanet:306446/ntbt", source="Orphanet:306446"} xref: Orphanet:306446 {source="MONDO:equivalentTo"} is_a: MONDO:0009114 {source="Orphanet:306446"} ! congenital sucrase-isomaltase deficiency relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -341325,7 +341166,7 @@ synonym: "congenital sucrase-isomaltose malabsorption without starch intolerance synonym: "congenital sucrose intolerance without starch intolerance" EXACT [Orphanet:306462] synonym: "CSID without starch intolerance" EXACT [Orphanet:306462] synonym: "disaccharide intolerance without starch intolerance" EXACT [Orphanet:306462] -xref: ICD10CM:E74.3 {source="ORDO:306462/attributed", source="ORDO:306462/ntbt", source="Orphanet:306462"} +xref: ICD10CM:E74.3 {source="Orphanet:306462", source="Orphanet:306462/attributed", source="Orphanet:306462/ntbt"} xref: Orphanet:306462 {source="MONDO:equivalentTo"} is_a: MONDO:0009114 {source="Orphanet:306462"} ! congenital sucrase-isomaltase deficiency disjoint_from: MONDO:0017621 ! congenital sucrase-isomaltase deficiency with starch and lactose intolerance @@ -341340,7 +341181,7 @@ synonym: "congenital sucrase-isomaltose malabsorption with starch and lactose in synonym: "congenital sucrose intolerance with starch and lactose intolerance" EXACT [Orphanet:306474] synonym: "CSID with starch and lactose intolerance" EXACT [Orphanet:306474] synonym: "disaccharide intolerance with starch and lactose intolerance" EXACT [Orphanet:306474] -xref: ICD10CM:E74.3 {source="ORDO:306474/attributed", source="ORDO:306474/ntbt", source="Orphanet:306474"} +xref: ICD10CM:E74.3 {source="Orphanet:306474/attributed", source="Orphanet:306474/ntbt", source="Orphanet:306474"} xref: Orphanet:306474 {source="MONDO:equivalentTo"} is_a: MONDO:0009114 {source="Orphanet:306474"} ! congenital sucrase-isomaltase deficiency relationship: disease_has_feature HP:0004789 ! Lactose intolerance @@ -341354,7 +341195,7 @@ subset: ordo_clinical_subtype {source="Orphanet:306486"} synonym: "congenital sucrose-isomaltose malabsorption without sucrose intolerance" EXACT [Orphanet:306486] synonym: "CSID without sucrose intolerance" EXACT [Orphanet:306486] synonym: "disaccharide intolerance without sucrose intolerance" EXACT [Orphanet:306486] -xref: ICD10CM:E74.3 {source="ORDO:306486/attributed", source="ORDO:306486/ntbt", source="Orphanet:306486"} +xref: ICD10CM:E74.3 {source="Orphanet:306486", source="Orphanet:306486/attributed", source="Orphanet:306486/ntbt"} xref: Orphanet:306486 {source="MONDO:equivalentTo"} is_a: MONDO:0009114 {source="Orphanet:306486"} ! congenital sucrase-isomaltase deficiency relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -341374,7 +341215,7 @@ xref: DOID:0080191 {source="MONDO:equivalentTo"} xref: GARD:0012800 {source="MONDO:equivalentTo"} xref: Orphanet:306498 {source="MONDO:equivalentTo"} xref: SCTID:722859001 {source="MONDO:equivalentTo"} -xref: UMLS:C1959582 {source="MONDO:equivalentTo", source="ORDO:306498/e", source="Orphanet:306498"} +xref: UMLS:C1959582 {source="Orphanet:306498/e", source="MONDO:equivalentTo", source="Orphanet:306498"} is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:306498"} ! obsolete rare skin tumor or hamartoma @@ -341391,7 +341232,7 @@ subset: ordo_group_of_disorders {source="Orphanet:306516"} synonym: "FHHNC" EXACT ABBREVIATION [Orphanet:306516] synonym: "Michellis-Castrillo syndrome" EXACT [Orphanet:306516] xref: GARD:0009891 {source="MONDO:equivalentTo"} -xref: ICD10CM:E83.4 {source="Orphanet:306516", source="ORDO:306516/attributed", source="ORDO:306516/ntbt"} +xref: ICD10CM:E83.4 {source="Orphanet:306516", source="Orphanet:306516/attributed", source="Orphanet:306516/ntbt"} xref: Orphanet:306516 {source="MONDO:equivalentTo"} xref: UMLS:C0268451 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009891"} xref: UMLS:CN203511 {source="MONDO:equivalentTo"} @@ -341414,7 +341255,7 @@ name: familial primary hypomagnesemia with normocalcuria def: "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type." [Orphanet:306522] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306522"} -xref: ICD10CM:E83.4 {source="ORDO:306522/attributed", source="ORDO:306522/ntbt", source="Orphanet:306522"} +xref: ICD10CM:E83.4 {source="Orphanet:306522/attributed", source="Orphanet:306522/ntbt", source="Orphanet:306522"} xref: Orphanet:306522 {source="MONDO:equivalentTo"} xref: UMLS:CN227164 {source="MONDO:equivalentTo"} is_a: MONDO:0018100 {source="Orphanet:306522"} ! familial primary hypomagnesemia @@ -341428,9 +341269,9 @@ synonym: "congenital hereditary facial palsy with variable deafness" EXACT [Orph synonym: "congenital hereditary facial palsy with variable hearing loss" EXACT [Orphanet:306530] synonym: "congenital hereditary facial paralysis with variable deafness" EXACT [Orphanet:306530] synonym: "congenital hereditary facial paralysis-variable deafness syndrome" EXACT [Orphanet:306530] -xref: ICD10CM:Q87.0 {source="ORDO:306530/attributed", source="ORDO:306530/ntbt", source="Orphanet:306530"} -xref: OMIM:604185 {source="ORDO:306530/btnt", source="MONDO:superClassOf", source="Orphanet:306530"} -xref: OMIM:614744 {source="ORDO:306530/btnt", source="MONDO:superClassOf", source="Orphanet:306530"} +xref: ICD10CM:Q87.0 {source="Orphanet:306530", source="Orphanet:306530/attributed", source="Orphanet:306530/ntbt"} +xref: OMIM:604185 {source="MONDO:superClassOf", source="Orphanet:306530", source="Orphanet:306530/btnt"} +xref: OMIM:614744 {source="MONDO:superClassOf", source="Orphanet:306530", source="Orphanet:306530/btnt"} xref: Orphanet:306530 {source="MONDO:equivalentTo"} xref: SCTID:722389002 {source="MONDO:equivalentTo"} is_a: MONDO:0015499 {source="Orphanet:306530"} ! paralytic facial malformation @@ -341445,7 +341286,7 @@ synonym: "subcutaneous spherulocystic disease" EXACT [Orphanet:306553] xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:306553 {source="MONDO:equivalentTo"} xref: SCTID:81139004 {source="MONDO:equivalentTo"} -xref: UMLS:C0027123 {source="MONDO:equivalentTo", source="ORDO:306553/e", source="Orphanet:306553"} +xref: UMLS:C0027123 {source="Orphanet:306553/e", source="MONDO:equivalentTo", source="Orphanet:306553"} is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare @@ -341453,8 +341294,8 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare id: MONDO:0017629 name: sodium channelopathy-related small fiber neuropathy subset: ordo_disease {source="Orphanet:306577"} -xref: OMIM:133020 {source="MONDO:subClassOf", source="ORDO:306577/ntbt", source="Orphanet:306577"} -xref: OMIM:615551 {source="MONDO:superClassOf", source="ORDO:306577/btnt", source="Orphanet:306577"} +xref: OMIM:133020 {source="MONDO:subClassOf", source="Orphanet:306577/ntbt", source="Orphanet:306577"} +xref: OMIM:615551 {source="Orphanet:306577/btnt", source="MONDO:superClassOf", source="Orphanet:306577"} xref: Orphanet:306577 {source="MONDO:equivalentTo"} is_a: MONDO:0020127 {source="Orphanet:306577"} ! genetic peripheral neuropathy is_a: MONDO:0021016 ! channelopathy @@ -341525,7 +341366,7 @@ subset: ordo_group_of_disorders {source="Orphanet:306648"} synonym: "non-infectious iridocyclitis" EXACT [Orphanet:306648] xref: Orphanet:306648 {source="MONDO:equivalentTo"} xref: SCTID:267619000 {source="MONDO:equivalentTo"} -xref: UMLS:C0339317 {source="Orphanet:306648", source="ORDO:306648/e", source="MONDO:equivalentTo"} +xref: UMLS:C0339317 {source="Orphanet:306648", source="MONDO:equivalentTo", source="Orphanet:306648/e"} is_a: MONDO:0006651 {source="Orphanet:306648", source="linkedlifedata", source="linkedlifedata/inferred"} ! anterior uveitis [Term] @@ -341547,7 +341388,7 @@ name: hemiparkinsonism-hemiatrophy syndrome def: "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." [Orphanet:306669] subset: ordo_disease {source="Orphanet:306669"} synonym: "Hp-HA syndrome" EXACT [Orphanet:306669] -xref: ICD10CM:G20 {source="Orphanet:306669", source="ORDO:306669/attributed", source="ORDO:306669/ntbt"} +xref: ICD10CM:G20 {source="Orphanet:306669/attributed", source="Orphanet:306669/ntbt", source="Orphanet:306669"} xref: Orphanet:306669 {source="MONDO:equivalentTo"} xref: UMLS:CN203531 {source="MONDO:equivalentTo"} is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder @@ -341573,13 +341414,13 @@ subset: ordo_disease {source="Orphanet:306682"} synonym: "manganese intoxication" EXACT [Orphanet:306682] synonym: "Manganism" EXACT [Orphanet:306682] xref: EFO:1001808 {source="MONDO:equivalentTo"} -xref: ICD10CM:T57.2 {source="Orphanet:306682", source="ORDO:306682/e"} +xref: ICD10CM:T57.2 {source="Orphanet:306682", source="Orphanet:306682/e"} xref: ICD9:503 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058951 {source="Orphanet:306682", source="ORDO:306682/e"} +xref: MedDRA:10058951 {source="Orphanet:306682", source="Orphanet:306682/e"} xref: MESH:D020149 {source="MONDO:equivalentTo"} xref: Orphanet:306682 {source="MONDO:equivalentTo"} xref: SCTID:88687001 {source="MONDO:equivalentTo"} -xref: UMLS:C0677050 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:306682", source="ORDO:306682/e"} +xref: UMLS:C0677050 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:306682", source="Orphanet:306682/e"} is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:306682"} ! poisoning intersection_of: MONDO:0029000 ! poisoning intersection_of: realized_in_response_to_stimulus CHEBI:25154 ! manganese molecular entity @@ -341591,10 +341432,10 @@ id: MONDO:0017639 name: carbon monoxide-induced parkinsonism subset: ordo_disease {source="Orphanet:306686"} synonym: "CO-induced parkinsonism" EXACT [Orphanet:306686] -xref: ICD10CM:G21.2 {source="Orphanet:306686", source="ORDO:306686/ntbt"} +xref: ICD10CM:G21.2 {source="Orphanet:306686/ntbt", source="Orphanet:306686"} xref: Orphanet:306686 {source="MONDO:equivalentTo"} xref: SCTID:230293003 {source="MONDO:equivalentTo"} -xref: UMLS:C0393565 {source="MONDO:equivalentTo", source="Orphanet:306686", source="ORDO:306686/e"} +xref: UMLS:C0393565 {source="Orphanet:306686/e", source="MONDO:equivalentTo", source="Orphanet:306686"} is_a: MONDO:0021095 {source="MONDO:0017637-obsoleted"} ! parkinsonian disorder is_a: MONDO:0029000 {source="Orphanet:306686"} ! poisoning intersection_of: MONDO:0021095 ! parkinsonian disorder @@ -341606,7 +341447,7 @@ id: MONDO:0017640 name: cyanide-induced parkinsonism def: "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." [Orphanet:306692] subset: ordo_disease {source="Orphanet:306692"} -xref: ICD10CM:G21.2 {source="ORDO:306692/ntbt", source="Orphanet:306692"} +xref: ICD10CM:G21.2 {source="Orphanet:306692", source="Orphanet:306692/ntbt"} xref: Orphanet:306692 {source="MONDO:equivalentTo"} xref: SCTID:766872002 {source="MONDO:equivalentTo"} xref: UMLS:CN203536 {source="MONDO:equivalentTo"} @@ -341632,7 +341473,7 @@ consider: MONDO:0005395 id: MONDO:0017642 name: intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome subset: ordo_malformation_syndrome {source="Orphanet:3067"} -xref: ICD10CM:Q87.8 {source="Orphanet:3067", source="ORDO:3067/attributed", source="ORDO:3067/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3067", source="Orphanet:3067/attributed", source="Orphanet:3067/ntbt"} xref: Orphanet:3067 {source="MONDO:equivalentTo"} xref: UMLS:CN227166 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:3067"} ! syndromic intellectual disability @@ -341704,9 +341545,9 @@ name: Sydenham chorea def: "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." [GARD:0007716] subset: ordo_clinical_situation {source="Orphanet:306731"} xref: GARD:0007716 {source="MONDO:equivalentTo"} -xref: ICD10CM:I02.0 {source="ORDO:306731/nd", source="Orphanet:306731"} -xref: ICD10CM:I02.9 {source="ORDO:306731/nd", source="Orphanet:306731"} -xref: MedDRA:10042732 {source="ORDO:306731/e", source="Orphanet:306731"} +xref: ICD10CM:I02.0 {source="Orphanet:306731/nd", source="Orphanet:306731"} +xref: ICD10CM:I02.9 {source="Orphanet:306731/nd", source="Orphanet:306731"} +xref: MedDRA:10042732 {source="Orphanet:306731/e", source="Orphanet:306731"} xref: Orphanet:306731 {source="MONDO:equivalentTo"} xref: UMLS:C0152113 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:306731"} is_a: MONDO:0005071 {source="GARD:0007716"} ! nervous system disorder @@ -341814,7 +341655,7 @@ name: hyperekplexia def: "A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia" [Wikipedia:Hyperekplexia] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306773"} -xref: ICD10CM:G25.8 {source="ORDO:306773/ntbt"} +xref: ICD10CM:G25.8 {source="Orphanet:306773/ntbt"} xref: Orphanet:306773 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 {source="Orphanet:306773"} ! movement disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare @@ -341823,7 +341664,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare id: MONDO:0017659 name: sporadic hyperekplexia subset: ordo_disease {source="Orphanet:306776"} -xref: ICD10CM:G25.8 {source="ORDO:306776/ntbt", source="Orphanet:306776"} +xref: ICD10CM:G25.8 {source="Orphanet:306776/ntbt", source="Orphanet:306776"} xref: Orphanet:306776 {source="MONDO:equivalentTo"} is_a: MONDO:0017658 {source="Orphanet:306776"} ! hyperekplexia @@ -341910,11 +341751,11 @@ synonym: "diffuse keratosis palmoplantaris" EXACT [Orphanet:307141] synonym: "diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307141] synonym: "diffuse PPK" EXACT [Orphanet:307141] xref: HP:0007435 -xref: ICD10CM:Q82.8 {source="ORDO:307141/attributed", source="ORDO:307141/ntbt", source="Orphanet:307141"} +xref: ICD10CM:Q82.8 {source="Orphanet:307141", source="Orphanet:307141/attributed", source="Orphanet:307141/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:307141 {source="MONDO:equivalentTo"} xref: SCTID:400123002 {source="MONDO:equivalentTo"} -xref: UMLS:C0022584 {source="ORDO:307141/e", source="MONDO:equivalentTo", source="Orphanet:307141"} +xref: UMLS:C0022584 {source="MONDO:equivalentTo", source="Orphanet:307141", source="Orphanet:307141/e"} is_a: MONDO:0019272 {source="Orphanet:307141", source="linkedlifedata"} ! hereditary palmoplantar keratoderma [Term] @@ -341927,7 +341768,7 @@ synonym: "isolated diffuse keratosis palmoplantaris" EXACT [Orphanet:307148] synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307148] synonym: "isolated diffuse PPK" EXACT [Orphanet:307148] synonym: "nonsyndromic diffuse palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q82.8 {source="Orphanet:307148", source="ORDO:307148/attributed", source="ORDO:307148/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:307148/attributed", source="Orphanet:307148/ntbt", source="Orphanet:307148"} xref: Orphanet:307148 {source="MONDO:equivalentTo"} xref: UMLS:C0022584 {source="MONDO:subClassOf", source="Orphanet:307148"} is_a: MONDO:0017666 {source="MONDO:Redundant", source="Orphanet:307148"} ! diffuse palmoplantar keratoderma @@ -341946,7 +341787,7 @@ synonym: "mental retardation short stature hypertelorism" RELATED DEPRECATED [GA synonym: "Stoll-GC)raudel-Chauvin syndrome" EXACT [GARD:0003514, Orphanet:3074] synonym: "Stoll-Géraudel-Chauvin syndrome" RELATED [GARD:0003514] xref: GARD:0003514 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3074/attributed", source="ORDO:3074/ntbt", source="Orphanet:3074"} +xref: ICD10CM:Q87.8 {source="Orphanet:3074/attributed", source="Orphanet:3074/ntbt", source="Orphanet:3074"} xref: Orphanet:3074 {source="MONDO:equivalentTo", source="GARD:0003514"} xref: UMLS:CN203552 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3074", source="indirect"} ! syndromic intellectual disability @@ -341967,7 +341808,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q82.8 {source="ORDO:307711/attributed", source="ORDO:307711/ntbt", source="Orphanet:307711"} +consider: ICD10CM:Q82.8 {source="Orphanet:307711/attributed", source="Orphanet:307711/ntbt", source="Orphanet:307711"} [Term] id: MONDO:0017670 @@ -341975,7 +341816,7 @@ name: autosomal dominant diffuse mutilating palmoplantar keratoderma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307773"} synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [Orphanet:307773] -xref: ICD10CM:Q82.8 {source="ORDO:307773/attributed", source="ORDO:307773/ntbt", source="Orphanet:307773"} +xref: ICD10CM:Q82.8 {source="Orphanet:307773", source="Orphanet:307773/attributed", source="Orphanet:307773/ntbt"} xref: Orphanet:307773 {source="MONDO:equivalentTo"} xref: UMLS:CN229100 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma @@ -341993,7 +341834,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q82.8 {source="Orphanet:307804", source="ORDO:307804/attributed", source="ORDO:307804/ntbt"} +consider: ICD10CM:Q82.8 {source="Orphanet:307804/attributed", source="Orphanet:307804/ntbt", source="Orphanet:307804"} [Term] id: MONDO:0017672 @@ -342003,7 +341844,7 @@ subset: ordo_group_of_disorders {source="Orphanet:307837"} synonym: "focal keratosis palmoplantaris" EXACT [Orphanet:307837] synonym: "focal palmoplantar hyperkeratosis" EXACT [Orphanet:307837] synonym: "focal PPK" EXACT [Orphanet:307837] -xref: ICD10CM:Q82.8 {source="Orphanet:307837", source="ORDO:307837/attributed", source="ORDO:307837/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:307837/attributed", source="Orphanet:307837/ntbt", source="Orphanet:307837"} xref: Orphanet:307837 {source="MONDO:equivalentTo"} is_a: MONDO:0019272 {source="Orphanet:307837"} ! hereditary palmoplantar keratoderma @@ -342017,7 +341858,7 @@ synonym: "isolated focal keratosis palmoplantaris" EXACT [Orphanet:307846] synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [Orphanet:307846] synonym: "isolated focal PPK" EXACT [Orphanet:307846] synonym: "nonsyndromic focal palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q82.8 {source="Orphanet:307846", source="ORDO:307846/attributed", source="ORDO:307846/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:307846/attributed", source="Orphanet:307846/ntbt", source="Orphanet:307846"} xref: Orphanet:307846 {source="MONDO:equivalentTo"} is_a: MONDO:0017672 {source="MONDO:Redundant", source="Orphanet:307846"} ! focal palmoplantar keratoderma intersection_of: MONDO:0017672 ! focal palmoplantar keratoderma @@ -342037,7 +341878,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q82.8 {source="ORDO:307871/attributed", source="ORDO:307871/ntbt", source="Orphanet:307871"} +consider: ICD10CM:Q82.8 {source="Orphanet:307871/attributed", source="Orphanet:307871/ntbt", source="Orphanet:307871"} [Term] id: MONDO:0017675 @@ -342049,10 +341890,10 @@ synonym: "punctate keratosis palmoplantaris" EXACT [DOID:0060361, Orphanet:30796 synonym: "punctate palmoplantar hyperkeratosis" EXACT [DOID:0060361, Orphanet:307967] synonym: "punctate PPK" EXACT [Orphanet:307967] xref: DOID:0060361 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:307967", source="ORDO:307967/attributed", source="ORDO:307967/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:307967/attributed", source="Orphanet:307967/ntbt", source="Orphanet:307967"} xref: Orphanet:307967 {source="MONDO:equivalentTo", source="DOID:0060361"} xref: SCTID:402773000 {source="MONDO:equivalentTo", source="DOID:0060361"} -xref: UMLS:C1274216 {source="ORDO:307967/e", source="Orphanet:307967", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060361"} +xref: UMLS:C1274216 {source="Orphanet:307967", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:307967/e", source="DOID:0060361"} xref: UMLS:C4024851 {source="MONDO:equivalentTo"} is_a: MONDO:0019272 {source="Orphanet:307967", source="linkedlifedata"} ! hereditary palmoplantar keratoderma @@ -342062,7 +341903,7 @@ name: marginal papular palmoplantar keratoderma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307995"} synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [Orphanet:307995] -xref: ICD10CM:Q82.8 {source="Orphanet:307995", source="ORDO:307995/attributed", source="ORDO:307995/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:307995/attributed", source="Orphanet:307995/ntbt", source="Orphanet:307995"} xref: Orphanet:307995 {source="MONDO:equivalentTo"} is_a: MONDO:0016518 {source="Orphanet:307995"} ! isolated punctate palmoplantar keratoderma @@ -342074,10 +341915,10 @@ synonym: "PPKP3 without elastoidosis" EXACT [Orphanet:308013] synonym: "PPPK3 without elastoidosis" EXACT [Orphanet:308013] synonym: "punctate palmoplantar hyperkeratosis type 3 without elastoidosis" EXACT [Orphanet:308013] synonym: "punctate palmoplantar keratoderma type 3 without elastoidosis" EXACT [Orphanet:308013] -xref: ICD10CM:Q82.8 {source="ORDO:308013/attributed", source="ORDO:308013/ntbt", source="Orphanet:308013"} +xref: ICD10CM:Q82.8 {source="Orphanet:308013", source="Orphanet:308013/attributed", source="Orphanet:308013/ntbt"} xref: Orphanet:308013 {source="MONDO:equivalentTo"} xref: SCTID:400115004 {source="MONDO:equivalentTo"} -xref: UMLS:C1302839 {source="MONDO:equivalentTo", source="Orphanet:308013", source="ORDO:308013/e"} +xref: UMLS:C1302839 {source="MONDO:equivalentTo", source="Orphanet:308013", source="Orphanet:308013/e"} is_a: MONDO:0017676 {source="Orphanet:308013"} ! marginal papular palmoplantar keratoderma [Term] @@ -342120,7 +341961,7 @@ name: erythrokeratoderma variabilis progressiva def: "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." [Orphanet:308166] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:308166"} -xref: ICD10CM:Q82.8 {source="ORDO:308166/attributed", source="ORDO:308166/ntbt", source="Orphanet:308166"} +xref: ICD10CM:Q82.8 {source="Orphanet:308166", source="Orphanet:308166/attributed", source="Orphanet:308166/ntbt"} xref: Orphanet:308166 {source="MONDO:equivalentTo"} is_a: MONDO:0019270 {source="Orphanet:308166"} ! erythrokeratoderma relationship: has_modifier MONDO:0021136 {source="MONDO:0015946"} ! rare @@ -342134,7 +341975,7 @@ synonym: "intellectual disability, postaxial polydactyly, phalangeal hypoplasia, synonym: "Kozlowski-Krajewska syndrome" EXACT [Orphanet:3082] synonym: "mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" RELATED DEPRECATED [GARD:0003141] xref: GARD:0003141 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:3082/attributed", source="ORDO:3082/ntbt", source="Orphanet:3082"} +xref: ICD10CM:Q87.2 {source="Orphanet:3082", source="Orphanet:3082/attributed", source="Orphanet:3082/ntbt"} xref: MESH:C537615 {source="MONDO:equivalentTo"} xref: Orphanet:3082 {source="MONDO:equivalentTo"} xref: UMLS:C2931547 {source="MONDO:equivalentTo", source="Orphanet:3082"} @@ -342147,8 +341988,8 @@ id: MONDO:0017683 name: methylcobalamin deficiency type cblDv1 subset: ordo_clinical_subtype {source="Orphanet:308380"} synonym: "functional methionine synthase deficiency type cblDv1" EXACT [Orphanet:308380] -xref: ICD10CM:E72.1 {source="Orphanet:308380", source="ORDO:308380/attributed", source="ORDO:308380/ntbt"} -xref: OMIM:277410 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:308380", source="ORDO:308380/ntbt"} +xref: ICD10CM:E72.1 {source="Orphanet:308380/attributed", source="Orphanet:308380/ntbt", source="Orphanet:308380"} +xref: OMIM:277410 {source="MONDO:subClassOf", source="Orphanet:308380/ntbt", source="MONDO:relatedTo", source="Orphanet:308380"} xref: Orphanet:308380 {source="MONDO:equivalentTo"} xref: UMLS:C1848552 {source="Orphanet:308380", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN203574 {source="MONDO:equivalentTo"} @@ -342163,7 +342004,7 @@ subset: ordo_group_of_disorders {source="Orphanet:308407"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:308407 {source="MONDO:equivalentTo"} xref: SCTID:237940008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342707 {source="ORDO:308407/e", source="Orphanet:308407", source="MONDO:equivalentTo"} +xref: UMLS:C0342707 {source="Orphanet:308407", source="MONDO:equivalentTo", source="Orphanet:308407/e"} is_a: MONDO:0019189 {source="Orphanet:308407", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism [Term] @@ -342171,8 +342012,8 @@ id: MONDO:0017685 name: vitamin B12-responsive methylmalonic acidemia, type cblDv2 subset: ordo_clinical_subtype {source="Orphanet:308442"} synonym: "vitamin B12-responsive methylmalonic aciduria, type cblDv2" EXACT [Orphanet:308442] -xref: ICD10CM:E71.1 {source="ORDO:308442/attributed", source="ORDO:308442/ntbt", source="Orphanet:308442"} -xref: OMIM:277410 {source="MONDO:subClassOf", source="ORDO:308442/ntbt", source="MONDO:relatedTo", source="Orphanet:308442"} +xref: ICD10CM:E71.1 {source="Orphanet:308442", source="Orphanet:308442/attributed", source="Orphanet:308442/ntbt"} +xref: OMIM:277410 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:308442", source="Orphanet:308442/ntbt"} xref: Orphanet:308442 {source="MONDO:equivalentTo"} xref: UMLS:C1848552 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:308442"} xref: UMLS:CN203582 {source="MONDO:equivalentTo"} @@ -342203,7 +342044,7 @@ subset: ordo_group_of_disorders {source="Orphanet:308451"} synonym: "inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn neutral amino acid transport disorder" EXACT [] synonym: "rare inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E72.0 {source="ORDO:308451/attributed", source="ORDO:308451/ntbt", source="Orphanet:308451"} +xref: ICD10CM:E72.0 {source="Orphanet:308451", source="Orphanet:308451/attributed", source="Orphanet:308451/ntbt"} xref: Orphanet:308451 {source="MONDO:equivalentTo"} xref: UMLS:CN203583 {source="MONDO:equivalentTo"} is_a: MONDO:0019216 {source="Orphanet:308451"} ! inborn disorder of amino acid absorption and transport @@ -342226,10 +342067,10 @@ id: MONDO:0017689 name: disorder of fructose metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:308463"} -xref: ICD10CM:E74.1 {source="ORDO:308463/e", source="Orphanet:308463", source="ORDO:308463/specific"} +xref: ICD10CM:E74.1 {source="Orphanet:308463/specific", source="Orphanet:308463", source="Orphanet:308463/e"} xref: Orphanet:308463 {source="MONDO:equivalentTo"} xref: SCTID:39452003 {source="MONDO:equivalentTo"} -xref: UMLS:C0342744 {source="MONDO:equivalentTo", source="ORDO:308463/e", source="Orphanet:308463"} +xref: UMLS:C0342744 {source="MONDO:equivalentTo", source="Orphanet:308463", source="Orphanet:308463/e"} is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308463"} ! inborn carbohydrate metabolic disorder intersection_of: MONDO:0019214 ! inborn carbohydrate metabolic disorder intersection_of: disease_has_basis_in_disruption_of GO:0006000 ! fructose metabolic process @@ -342239,10 +342080,10 @@ id: MONDO:0017690 name: disorder of galactose metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:308467"} -xref: ICD10CM:E74.2 {source="ORDO:308467/e", source="ORDO:308467/specific", source="Orphanet:308467"} +xref: ICD10CM:E74.2 {source="Orphanet:308467/specific", source="Orphanet:308467/e", source="Orphanet:308467"} xref: Orphanet:308467 {source="MONDO:equivalentTo"} xref: SCTID:237963003 {source="MONDO:equivalentTo"} -xref: UMLS:C0342745 {source="MONDO:equivalentTo", source="ORDO:308467/e", source="Orphanet:308467"} +xref: UMLS:C0342745 {source="Orphanet:308467/e", source="MONDO:equivalentTo", source="Orphanet:308467"} is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308467"} ! inborn carbohydrate metabolic disorder intersection_of: MONDO:0019214 ! inborn carbohydrate metabolic disorder intersection_of: disease_has_basis_in_disruption_of GO:0006012 ! galactose metabolic process @@ -342256,7 +342097,7 @@ synonym: "erythrocyte GALE deficiency" EXACT [Orphanet:308473] synonym: "erythrocyte GALE-D" EXACT [Orphanet:308473] synonym: "erythrocyte UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308473] synonym: "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308473] -xref: ICD10CM:E74.2 {source="ORDO:308473/attributed", source="ORDO:308473/ntbt", source="Orphanet:308473"} +xref: ICD10CM:E74.2 {source="Orphanet:308473", source="Orphanet:308473/attributed", source="Orphanet:308473/ntbt"} xref: Orphanet:308473 {source="MONDO:equivalentTo"} xref: SCTID:297238008 {source="MONDO:equivalentTo"} xref: UMLS:C0574090 {source="MONDO:equivalentTo"} @@ -342271,7 +342112,7 @@ synonym: "generalized GALE deficiency" EXACT [Orphanet:308487] synonym: "generalized GALE-D" EXACT [Orphanet:308487] synonym: "generalized UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308487] synonym: "generalized uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308487] -xref: ICD10CM:E74.2 {source="ORDO:308487/attributed", source="ORDO:308487/ntbt", source="Orphanet:308487"} +xref: ICD10CM:E74.2 {source="Orphanet:308487/attributed", source="Orphanet:308487/ntbt", source="Orphanet:308487"} xref: Orphanet:308487 {source="MONDO:equivalentTo"} xref: SCTID:297237003 {source="MONDO:equivalentTo"} xref: UMLS:C0574089 {source="MONDO:equivalentTo"} @@ -342286,7 +342127,7 @@ synonym: "glycogen storage disease type 0" EXACT [Wikipedia:Glycogen_storage_dis synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD0" EXACT ABBREVIATION [Wikipedia:Glycogen_storage_disease_type_0] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308520/attributed", source="ORDO:308520/ntbt", source="Orphanet:308520"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308520/attributed", source="Orphanet:308520/ntbt", source="Orphanet:308520"} xref: Orphanet:308520 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203589 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -342309,7 +342150,7 @@ synonym: "GSD due to acid maltase deficiency, infantile onset" EXACT [Orphanet:3 synonym: "GSD type 2, infantile onset" EXACT [Orphanet:308552] synonym: "GSD type II, infantile onset" EXACT [Orphanet:308552] synonym: "Pompe disease, infantile onset" EXACT [Orphanet:308552] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308552/attributed", source="ORDO:308552/ntbt", source="Orphanet:308552"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308552", source="Orphanet:308552/attributed", source="Orphanet:308552/ntbt"} xref: Orphanet:308552 {source="MONDO:equivalentTo"} xref: SCTID:722302009 {source="MONDO:equivalentTo"} xref: UMLS:C0751173 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:308552"} @@ -342330,8 +342171,8 @@ synonym: "glycogenosis type IV, progressive hepatic form" EXACT [Orphanet:308621 synonym: "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" EXACT [Orphanet:308621] synonym: "GSD type 4, progressive hepatic form" EXACT [Orphanet:308621] synonym: "GSDIV, progressive hepatic form" EXACT [Orphanet:308621] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308621/attributed", source="ORDO:308621/ntbt", source="Orphanet:308621"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="ORDO:308621/ntbt", source="Orphanet:308621"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308621/attributed", source="Orphanet:308621/ntbt", source="Orphanet:308621"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308621/ntbt", source="Orphanet:308621"} xref: Orphanet:308621 {source="MONDO:equivalentTo"} xref: UMLS:CN203594 {source="MONDO:equivalentTo"} is_a: MONDO:0009292 {source="Orphanet:308621"} ! glycogen storage disease due to glycogen branching enzyme deficiency @@ -342350,8 +342191,8 @@ synonym: "glycogenosis type IV, non progressive hepatic form" EXACT [Orphanet:30 synonym: "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form" EXACT [Orphanet:308638] synonym: "GSD type 4, non progressive hepatic form" EXACT [Orphanet:308638] synonym: "GSDIV, non progressive hepatic form" EXACT [Orphanet:308638] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308638", source="ORDO:308638/attributed", source="ORDO:308638/ntbt"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308638", source="ORDO:308638/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308638/attributed", source="Orphanet:308638/ntbt", source="Orphanet:308638"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308638/ntbt", source="Orphanet:308638"} xref: Orphanet:308638 {source="MONDO:equivalentTo"} xref: UMLS:CN203595 {source="MONDO:equivalentTo"} is_a: MONDO:0009292 {source="Orphanet:308638"} ! glycogen storage disease due to glycogen branching enzyme deficiency @@ -342370,8 +342211,8 @@ synonym: "glycogenosis type IV, fatal perinatal neuromuscular form" EXACT [Orpha synonym: "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] synonym: "GSD type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] synonym: "GSDIV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308655", source="ORDO:308655/attributed", source="ORDO:308655/ntbt"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308655", source="ORDO:308655/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308655/attributed", source="Orphanet:308655/ntbt", source="Orphanet:308655"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308655/ntbt", source="Orphanet:308655"} xref: Orphanet:308655 {source="MONDO:equivalentTo"} xref: UMLS:C1856303 {source="MONDO:equivalentTo", source="Orphanet:308655"} is_a: MONDO:0009292 {source="Orphanet:308655"} ! glycogen storage disease due to glycogen branching enzyme deficiency @@ -342390,8 +342231,8 @@ synonym: "glycogenosis type IV, congenital neuromuscular form" EXACT [Orphanet:3 synonym: "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form" EXACT [Orphanet:308670] synonym: "GSD type 4, congenital neuromuscular form" EXACT [Orphanet:308670] synonym: "GSDIV, congenital neuromuscular form" EXACT [Orphanet:308670] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308670/attributed", source="ORDO:308670/ntbt", source="Orphanet:308670"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="ORDO:308670/ntbt", source="Orphanet:308670"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308670", source="Orphanet:308670/attributed", source="Orphanet:308670/ntbt"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308670", source="Orphanet:308670/ntbt"} xref: Orphanet:308670 {source="MONDO:equivalentTo"} xref: UMLS:C1856304 {source="MONDO:equivalentTo", source="Orphanet:308670"} is_a: MONDO:0009292 {source="Orphanet:308670"} ! glycogen storage disease due to glycogen branching enzyme deficiency @@ -342412,11 +342253,11 @@ synonym: "glycogenosis type IV, childhood combined hepatic and myopathic form" E synonym: "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] synonym: "GSD type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] synonym: "GSDIV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308684/attributed", source="ORDO:308684/ntbt", source="Orphanet:308684"} -xref: MedDRA:10053250 {source="Orphanet:308684", source="ORDO:308684/e"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="ORDO:308684/ntbt", source="Orphanet:308684"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308684", source="Orphanet:308684/attributed", source="Orphanet:308684/ntbt"} +xref: MedDRA:10053250 {source="Orphanet:308684", source="Orphanet:308684/e"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308684", source="Orphanet:308684/ntbt"} xref: Orphanet:308684 {source="MONDO:equivalentTo"} -xref: UMLS:C0017922 {source="MONDO:relatedTo", source="Orphanet:308684", source="ORDO:308684/e"} +xref: UMLS:C0017922 {source="MONDO:relatedTo", source="Orphanet:308684", source="Orphanet:308684/e"} is_a: MONDO:0009292 {source="Orphanet:308684"} ! glycogen storage disease due to glycogen branching enzyme deficiency property_value: confidence "0.2757499999999997" xsd:double @@ -342433,8 +342274,8 @@ synonym: "glycogenosis type IV, childhood neuromuscular form" EXACT [Orphanet:30 synonym: "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form" EXACT [Orphanet:308698] synonym: "GSD type 4, childhood neuromuscular form" EXACT [Orphanet:308698] synonym: "GSDIV, childhood neuromuscular form" EXACT [Orphanet:308698] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308698/attributed", source="ORDO:308698/ntbt", source="Orphanet:308698"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="ORDO:308698/ntbt", source="Orphanet:308698"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308698/attributed", source="Orphanet:308698/ntbt", source="Orphanet:308698"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308698/ntbt", source="Orphanet:308698"} xref: Orphanet:308698 {source="MONDO:equivalentTo"} xref: UMLS:C1856305 {source="MONDO:equivalentTo", source="Orphanet:308698"} is_a: MONDO:0009292 {source="Orphanet:308698"} ! glycogen storage disease due to glycogen branching enzyme deficiency @@ -342453,8 +342294,8 @@ synonym: "glycogenosis type IV, adult neuromuscular form" EXACT [Orphanet:308712 synonym: "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form" EXACT [Orphanet:308712] synonym: "GSD type 4, adult neuromuscular form" EXACT [Orphanet:308712] synonym: "GSDIV, adult neuromuscular form" EXACT [Orphanet:308712] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:308712/attributed", source="ORDO:308712/ntbt", source="Orphanet:308712"} -xref: OMIM:232500 {source="MONDO:subClassOf", source="ORDO:308712/ntbt", source="Orphanet:308712"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:308712/attributed", source="Orphanet:308712/ntbt", source="Orphanet:308712"} +xref: OMIM:232500 {source="MONDO:subClassOf", source="Orphanet:308712/ntbt", source="Orphanet:308712"} xref: Orphanet:308712 {source="MONDO:equivalentTo"} xref: UMLS:CN203601 {source="MONDO:equivalentTo"} is_a: MONDO:0009292 {source="Orphanet:308712"} ! glycogen storage disease due to glycogen branching enzyme deficiency @@ -342488,7 +342329,7 @@ subset: ordo_group_of_disorders {source="Orphanet:309"} synonym: "epilepsy, partial, familial" RELATED [GARD:0002173] synonym: "hereditary partial epilepsy" EXACT [MONDO:patterns/hereditary] xref: GARD:0002173 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.1 {source="ORDO:309/attributed", source="ORDO:309/ntbt", source="Orphanet:309"} +xref: ICD10CM:G40.1 {source="Orphanet:309", source="Orphanet:309/attributed", source="Orphanet:309/ntbt"} xref: Orphanet:309 {source="MONDO:equivalentTo"} xref: UMLS:CN227178 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="Orphanet:309"} ! childhood-onset epilepsy syndrome @@ -342514,9 +342355,9 @@ synonym: "TAPVR" RELATED ABBREVIATION [GARD:0004599] synonym: "TAPVR1" RELATED ABBREVIATION [GARD:0004599] synonym: "total anomalous pulmonary venous return" RELATED [GARD:0004599] xref: GARD:0004599 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q26.2 {source="ORDO:3090/btnt", source="Orphanet:3090"} -xref: ICD10CM:Q26.3 {source="ORDO:3090/btnt", source="Orphanet:3090"} -xref: ICD10CM:Q26.4 {source="ORDO:3090/btnt", source="Orphanet:3090"} +xref: ICD10CM:Q26.2 {source="Orphanet:3090", source="Orphanet:3090/btnt"} +xref: ICD10CM:Q26.3 {source="Orphanet:3090", source="Orphanet:3090/btnt"} +xref: ICD10CM:Q26.4 {source="Orphanet:3090", source="Orphanet:3090/btnt"} xref: OMIM:106700 {source="GARD:0004599", source="MONDO:superClassOf"} xref: Orphanet:3090 {source="GARD:0004599", source="MONDO:equivalentTo"} xref: UMLS:C0036400 {source="GARD:0004599", source="MONDO:superClassOf"} @@ -342545,9 +342386,9 @@ id: MONDO:0017708 name: mevalonate kinase deficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309025"} -xref: MedDRA:10072221 {source="Orphanet:309025", source="ORDO:309025/e"} +xref: MedDRA:10072221 {source="Orphanet:309025", source="Orphanet:309025/e"} xref: Orphanet:309025 {source="MONDO:equivalentTo"} -xref: UMLS:C0342731 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309025", source="ORDO:309025/e"} +xref: UMLS:C0342731 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309025", source="Orphanet:309025/e"} xref: UMLS:C1959626 {source="MONDO:superClassOf", source="Orphanet:309025"} is_a: MONDO:0017953 {source="Orphanet:309025"} ! hereditary periodic fever syndrome is_a: MONDO:0019240 {source="Orphanet:309025"} ! sterol biosynthesis disorder @@ -342578,12 +342419,12 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017711 name: pancreatic colipase deficiency subset: ordo_disease {source="Orphanet:309108"} -xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="ORDO:309108/attributed", source="ORDO:309108/ntbt", source="Orphanet:309108"} +xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309108/attributed", source="Orphanet:309108/ntbt", source="Orphanet:309108"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:614338 {source="MONDO:subClassOf", source="ORDO:309108/ntbt", source="Orphanet:309108"} +xref: OMIM:614338 {source="MONDO:subClassOf", source="Orphanet:309108/ntbt", source="Orphanet:309108"} xref: Orphanet:309108 {source="MONDO:equivalentTo"} xref: SCTID:69478001 {source="MONDO:equivalentTo"} -xref: UMLS:C0268241 {source="MONDO:equivalentTo", source="Orphanet:309108", source="ORDO:309108/e"} +xref: UMLS:C0268241 {source="Orphanet:309108/e", source="MONDO:equivalentTo", source="Orphanet:309108"} is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency property_value: confidence "1.9907692307692302" xsd:double @@ -342592,8 +342433,8 @@ id: MONDO:0017712 name: combined pancreatic lipase-colipase deficiency def: "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." [https://orcid.org/0000-0001-5208-3432, Orphanet:309111] subset: ordo_disease {source="Orphanet:309111"} -xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="ORDO:309111/attributed", source="ORDO:309111/ntbt", source="Orphanet:309111"} -xref: OMIM:614338 {source="MONDO:subClassOf", source="ORDO:309111/ntbt", source="Orphanet:309111"} +xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309111", source="Orphanet:309111/attributed", source="Orphanet:309111/ntbt"} +xref: OMIM:614338 {source="MONDO:subClassOf", source="Orphanet:309111", source="Orphanet:309111/ntbt"} xref: Orphanet:309111 {source="MONDO:equivalentTo"} is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency property_value: confidence "1.9907692307692302" xsd:double @@ -342603,7 +342444,7 @@ id: MONDO:0017713 name: disorder of fatty acid oxidation and ketogenesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309115"} -xref: ICD10CM:E71.3 {source="ORDO:309115/attributed", source="ORDO:309115/ntbt", source="Orphanet:309115"} +xref: ICD10CM:E71.3 {source="Orphanet:309115", source="Orphanet:309115/attributed", source="Orphanet:309115/ntbt"} xref: Orphanet:309115 {source="MONDO:equivalentTo"} xref: UMLS:CN227183 {source="MONDO:equivalentTo"} is_a: MONDO:0019223 {source="Orphanet:309115"} ! inborn disorder of fatty acid oxidation and ketone body metabolism @@ -342614,10 +342455,10 @@ id: MONDO:0017714 name: acyl-CoA dehydrogenase deficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309120"} -xref: ICD10CM:E71.3 {source="Orphanet:309120", source="ORDO:309120/attributed", source="ORDO:309120/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:309120/attributed", source="Orphanet:309120/ntbt", source="Orphanet:309120"} xref: Orphanet:309120 {source="MONDO:equivalentTo"} xref: SCTID:82319005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268635 {source="Orphanet:309120", source="ORDO:309120/e", source="MONDO:equivalentTo"} +xref: UMLS:C0268635 {source="Orphanet:309120", source="MONDO:equivalentTo", source="Orphanet:309120/e"} is_a: MONDO:0017713 {source="Orphanet:309120"} ! disorder of fatty acid oxidation and ketogenesis [Term] @@ -342625,10 +342466,10 @@ id: MONDO:0017715 name: 3-hydroxyacyl-CoA dehydrogenase deficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309127"} -xref: ICD10CM:E71.3 {source="ORDO:309127/attributed", source="ORDO:309127/ntbt", source="Orphanet:309127"} -xref: OMIM:231530 {source="ORDO:71212/e", source="Orphanet:71212", source="MONDO:equivalentTO", source="GARD:0009870"} +xref: ICD10CM:E71.3 {source="Orphanet:309127/attributed", source="Orphanet:309127/ntbt", source="Orphanet:309127"} +xref: OMIM:231530 {source="Orphanet:71212", source="MONDO:equivalentTO", source="GARD:0009870", source="Orphanet:71212/e"} xref: Orphanet:309127 {source="MONDO:equivalentTo"} -xref: UMLS:C1291230 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:309127/e", source="Orphanet:309127"} +xref: UMLS:C1291230 {source="Orphanet:309127/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309127"} is_a: MONDO:0017713 {source="Orphanet:309127"} ! disorder of fatty acid oxidation and ketogenesis [Term] @@ -342636,7 +342477,7 @@ id: MONDO:0017716 name: disorder of carnitine cycle and carnitine transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309130"} -xref: ICD10CM:E71.3 {source="Orphanet:309130", source="ORDO:309130/attributed", source="ORDO:309130/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:309130/attributed", source="Orphanet:309130/ntbt", source="Orphanet:309130"} xref: Orphanet:309130 {source="MONDO:equivalentTo"} xref: UMLS:CN227184 {source="MONDO:equivalentTo"} is_a: MONDO:0019223 {source="Orphanet:309130"} ! inborn disorder of fatty acid oxidation and ketone body metabolism @@ -342646,7 +342487,7 @@ id: MONDO:0017717 name: obsolete metabolic disease due to other fatty acid oxidation disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:309133"} -xref: ICD10CM:E71.3 {source="ORDO:309133/attributed", source="ORDO:309133/ntbt", source="Orphanet:309133"} +xref: ICD10CM:E71.3 {source="Orphanet:309133", source="Orphanet:309133/attributed", source="Orphanet:309133/ntbt"} xref: Orphanet:309133 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203613 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -342675,13 +342516,13 @@ subset: ordo_group_of_disorders {source="Orphanet:309144"} synonym: "mucolipidosis type IV" EXACT EXCLUDE [DOID:2368] xref: DOID:2368 {source="MONDO:equivalentTo"} xref: GARD:0012510 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.0 {source="ORDO:309144/btnt", source="Orphanet:309144", source="MONDO:superClassOf", source="ORDO:309144/specific"} -xref: ICD10CM:E75.1 {source="ORDO:309144/btnt", source="Orphanet:309144", source="ORDO:309144/specific"} +xref: ICD10CM:E75.0 {source="Orphanet:309144", source="MONDO:superClassOf", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"} +xref: ICD10CM:E75.1 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"} xref: ICD10CM:E75.10 {source="DOID:2368"} xref: MESH:D005733 {source="DOID:2368"} xref: Orphanet:309144 {source="MONDO:equivalentTo"} xref: SCTID:50967008 {source="MONDO:equivalentTo", source="DOID:2368"} -xref: UMLS:C0017083 {source="MONDO:equivalentTo", source="Orphanet:309144", source="DOID:2368", source="ORDO:309144/e"} +xref: UMLS:C0017083 {source="MONDO:equivalentTo", source="Orphanet:309144", source="DOID:2368", source="Orphanet:309144/e"} is_a: MONDO:0019255 {source="DOID:2368", source="MONDO:0018299-obsoleted", source="Orphanet:309144", source="indirect"} ! sphingolipidosis [Term] @@ -342696,13 +342537,13 @@ synonym: "GM2-gangliosidosis, B, B1, AB variant" RELATED [GARD:0002522] synonym: "GM>2< gangliosidosis" EXACT [DOID:3321] xref: DOID:3321 {source="MONDO:equivalentTo"} xref: GARD:0002522 {source="MONDO:equivalentTo", source="MONDO:superClassOf"} -xref: ICD10CM:E75.0 {source="ORDO:309152/e", source="DOID:3321", source="ORDO:309152/specific", source="Orphanet:309152", source="MONDO:equivalentTo"} +xref: ICD10CM:E75.0 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/specific", source="Orphanet:309152/e"} xref: ICD10CM:E75.00 {source="DOID:3321"} xref: MESH:D020143 {source="DOID:3321", source="MONDO:equivalentTo"} xref: Orphanet:309152 {source="MONDO:equivalentTo"} xref: SCTID:33316007 {source="DOID:3321", source="MONDO:equivalentTo"} xref: UMLS:C0039373 {source="Orphanet:309152", source="MONDO:superClassOf"} -xref: UMLS:C0268274 {source="ORDO:309152/e", source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo"} +xref: UMLS:C0268274 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/e"} is_a: MONDO:0017719 {source="DOID:3321", source="Orphanet:309152", source="linkedlifedata"} ! gangliosidosis is_a: MONDO:0019058 {source="Orphanet:309152"} ! neurometabolic disease is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:309152"} ! inherited neurodegenerative disorder @@ -342713,10 +342554,10 @@ name: Sandhoff disease, infantile form subset: ordo_clinical_subtype {source="Orphanet:309155"} synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [Orphanet:309155] synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309155] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="ORDO:309155/attributed", source="ORDO:309155/ntbt", source="Orphanet:309155"} -xref: OMIM:268800 {source="MONDO:subClassOf", source="ORDO:309155/ntbt", source="Orphanet:309155"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309155", source="Orphanet:309155/attributed", source="Orphanet:309155/ntbt"} +xref: OMIM:268800 {source="MONDO:subClassOf", source="Orphanet:309155", source="Orphanet:309155/ntbt"} xref: Orphanet:309155 {source="MONDO:equivalentTo"} -xref: UMLS:C0751490 {source="Orphanet:309155", source="MONDO:notFoundInDiseaseSubset", source="ORDO:309155/e"} +xref: UMLS:C0751490 {source="Orphanet:309155", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309155/e"} xref: UMLS:C1849322 {source="Orphanet:309155", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN203617 {source="MONDO:equivalentTo"} is_a: MONDO:0010006 {source="Orphanet:309155"} ! Sandhoff disease @@ -342728,10 +342569,10 @@ name: Sandhoff disease, juvenile form subset: ordo_clinical_subtype {source="Orphanet:309162"} synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [Orphanet:309162] synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309162] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309162", source="ORDO:309162/attributed", source="ORDO:309162/ntbt"} -xref: OMIM:268800 {source="MONDO:subClassOf", source="Orphanet:309162", source="ORDO:309162/ntbt"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309162", source="Orphanet:309162/attributed", source="Orphanet:309162/ntbt"} +xref: OMIM:268800 {source="MONDO:subClassOf", source="Orphanet:309162", source="Orphanet:309162/ntbt"} xref: Orphanet:309162 {source="MONDO:equivalentTo"} -xref: UMLS:C0751491 {source="Orphanet:309162", source="ORDO:309162/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751491 {source="Orphanet:309162", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309162/e"} xref: UMLS:C1849321 {source="Orphanet:309162", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN203618 {source="MONDO:equivalentTo"} is_a: MONDO:0010006 {source="Orphanet:309162"} ! Sandhoff disease @@ -342746,10 +342587,10 @@ synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169] synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern] synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169] synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="ORDO:309169/attributed", source="ORDO:309169/ntbt", source="Orphanet:309169"} -xref: OMIM:268800 {source="MONDO:subClassOf", source="ORDO:309169/ntbt", source="Orphanet:309169"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309169/attributed", source="Orphanet:309169/ntbt", source="Orphanet:309169"} +xref: OMIM:268800 {source="MONDO:subClassOf", source="Orphanet:309169/ntbt", source="Orphanet:309169"} xref: Orphanet:309169 {source="MONDO:equivalentTo"} -xref: UMLS:C0751489 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:309169/e", source="Orphanet:309169"} +xref: UMLS:C0751489 {source="Orphanet:309169/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309169"} xref: UMLS:C1849320 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309169"} xref: UMLS:CN203619 {source="MONDO:equivalentTo"} is_a: MONDO:0010006 {source="MONDO:Redundant", source="Orphanet:309169"} ! Sandhoff disease @@ -342763,7 +342604,7 @@ name: Tay-Sachs disease, b variant, infantile form subset: ordo_clinical_subtype {source="Orphanet:309178"} synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [Orphanet:309178] synonym: "hexosaminidase A deficiency, infantile form" EXACT [Orphanet:309178] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="ORDO:309178/attributed", source="ORDO:309178/ntbt", source="Orphanet:309178"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309178", source="Orphanet:309178/attributed", source="Orphanet:309178/ntbt"} xref: Orphanet:309178 {source="MONDO:equivalentTo"} xref: UMLS:CN203620 {source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309178"} ! Tay-Sachs disease @@ -342774,7 +342615,7 @@ name: Tay-Sachs disease, b variant, juvenile form subset: ordo_clinical_subtype {source="Orphanet:309185"} synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [Orphanet:309185] synonym: "hexosaminidase A deficiency, juvenile form" EXACT [Orphanet:309185] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309185", source="ORDO:309185/attributed", source="ORDO:309185/ntbt"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309185/attributed", source="Orphanet:309185/ntbt", source="Orphanet:309185"} xref: Orphanet:309185 {source="MONDO:equivalentTo"} xref: UMLS:CN203621 {source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309185"} ! Tay-Sachs disease @@ -342785,7 +342626,7 @@ name: Tay-Sachs disease, b variant, adult form subset: ordo_clinical_subtype {source="Orphanet:309192"} synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [Orphanet:309192] synonym: "hexosaminidase A deficiency, adult form" EXACT [Orphanet:309192] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309192", source="ORDO:309192/attributed", source="ORDO:309192/ntbt"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309192", source="Orphanet:309192/attributed", source="Orphanet:309192/ntbt"} xref: Orphanet:309192 {source="MONDO:equivalentTo"} xref: UMLS:C1848914 {source="Orphanet:309192", source="MONDO:equivalentTo"} is_a: MONDO:0010100 {source="Orphanet:309192"} ! Tay-Sachs disease @@ -342796,8 +342637,8 @@ id: MONDO:0017727 name: fixed subaortic stenosis def: "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form." [Orphanet:3092] subset: ordo_morphological_anomaly {source="Orphanet:3092"} -xref: ICD10CM:Q24.4 {source="ORDO:3092/e", source="Orphanet:3092"} -xref: OMIM:271950 {source="ORDO:3092/btnt", source="MONDO:superClassOf", source="Orphanet:3092"} +xref: ICD10CM:Q24.4 {source="Orphanet:3092", source="Orphanet:3092/e"} +xref: OMIM:271950 {source="MONDO:superClassOf", source="Orphanet:3092", source="Orphanet:3092/btnt"} xref: Orphanet:3092 {source="MONDO:equivalentTo"} xref: UMLS:C1848979 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3092"} is_a: MONDO:0020286 {source="Orphanet:3092"} ! aortic malformation @@ -342808,7 +342649,7 @@ name: Tay-Sachs disease, B1 variant subset: ordo_clinical_subtype {source="Orphanet:309239"} synonym: "GM2 gangliosidosis, B1 variant" EXACT [Orphanet:309239] synonym: "hexosaminidase A deficiency, B1 variant" EXACT [Orphanet:309239] -xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="ORDO:309239/attributed", source="ORDO:309239/ntbt", source="Orphanet:309239"} +xref: ICD10CM:E75.0 {source="MONDO:subClassOf", source="Orphanet:309239/attributed", source="Orphanet:309239/ntbt", source="Orphanet:309239"} xref: Orphanet:309239 {source="MONDO:equivalentTo"} xref: SCTID:238024005 {source="MONDO:equivalentTo"} xref: UMLS:C1848916 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309239"} @@ -342822,7 +342663,7 @@ name: metachromatic leukodystrophy, late infantile form subset: ordo_clinical_subtype {source="Orphanet:309256"} synonym: "arylsulfatase A deficiency, late infantile form" EXACT [Orphanet:309256] synonym: "MLD, late infantile form" EXACT [Orphanet:309256] -xref: ICD10CM:E75.2 {source="ORDO:309256/attributed", source="ORDO:309256/ntbt", source="Orphanet:309256"} +xref: ICD10CM:E75.2 {source="Orphanet:309256", source="Orphanet:309256/attributed", source="Orphanet:309256/ntbt"} xref: Orphanet:309256 {source="MONDO:equivalentTo"} xref: UMLS:C0751278 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309256"} is_a: MONDO:0009591 ! metachromatic leukodystrophy, juvenile form @@ -342834,9 +342675,9 @@ name: metachromatic leukodystrophy, adult form subset: ordo_clinical_subtype {source="Orphanet:309271"} synonym: "arylsulfatase A deficiency, adult form" EXACT [Orphanet:309271] synonym: "MLD, adult form" EXACT [Orphanet:309271] -xref: ICD10CM:E75.2 {source="Orphanet:309271", source="ORDO:309271/attributed", source="ORDO:309271/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:309271/attributed", source="Orphanet:309271/ntbt", source="Orphanet:309271"} xref: Orphanet:309271 {source="MONDO:equivalentTo"} -xref: UMLS:C0751279 {source="ORDO:309271/e", source="Orphanet:309271", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0751279 {source="Orphanet:309271", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309271/e"} is_a: MONDO:0009591 ! metachromatic leukodystrophy, juvenile form property_value: confidence "0.0" xsd:double @@ -342848,10 +342689,10 @@ subset: disease_grouping subset: gard_rare {source="GARD:0010670"} subset: ordo_group_of_disorders {source="Orphanet:309279"} xref: GARD:0010670 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.0 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"} -xref: ICD10CM:E77.1 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"} -xref: ICD10CM:E77.8 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"} -xref: ICD10CM:E77.9 {source="ORDO:309279/btnt", source="Orphanet:309279", source="ORDO:309279/specific"} +xref: ICD10CM:E77.0 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} +xref: ICD10CM:E77.1 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} +xref: ICD10CM:E77.8 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} +xref: ICD10CM:E77.9 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} xref: Orphanet:309279 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:309279"} ! lysosomal storage disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis xsd:anyURI {source="GARD:0010670"} @@ -342861,7 +342702,7 @@ id: MONDO:0017732 name: alpha-mannosidosis, infantile form subset: ordo_clinical_subtype {source="Orphanet:309282"} synonym: "lysosomal alpha-D-mannosidase deficiency, infantile form" EXACT [Orphanet:309282] -xref: ICD10CM:E77.1 {source="Orphanet:309282", source="ORDO:309282/attributed", source="ORDO:309282/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:309282/attributed", source="Orphanet:309282/ntbt", source="Orphanet:309282"} xref: Orphanet:309282 {source="MONDO:equivalentTo"} is_a: MONDO:0009561 {source="Orphanet:309282"} ! alpha-mannosidosis @@ -342873,7 +342714,7 @@ synonym: "Alpha-mannosidosis adult-onset form" RELATED [GTR:AN0103811] synonym: "lysosomal alpha-D-mannosidase deficiency, adult form" EXACT [Orphanet:309288] xref: GTR:AN0103810 {source="UMLS:CN036949"} xref: GTR:AN0103811 {source="UMLS:CN036949"} -xref: ICD10CM:E77.1 {source="ORDO:309288/attributed", source="ORDO:309288/ntbt", source="Orphanet:309288"} +xref: ICD10CM:E77.1 {source="Orphanet:309288", source="Orphanet:309288/attributed", source="Orphanet:309288/ntbt"} xref: Orphanet:309288 {source="MONDO:equivalentTo"} xref: UMLS:CN036949 {source="MONDO:equivalentTo"} is_a: MONDO:0009561 {source="Orphanet:309288"} ! alpha-mannosidosis @@ -342884,8 +342725,8 @@ name: sialidosis def: "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." [Orphanet:309294] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309294"} -xref: ICD10CM:E77.1 {source="Orphanet:309294", source="ORDO:309294/inclusion", source="ORDO:309294/ntbt"} -xref: MedDRA:10058800 {source="Orphanet:309294", source="ORDO:309294/e"} +xref: ICD10CM:E77.1 {source="Orphanet:309294/inclusion", source="Orphanet:309294", source="Orphanet:309294/ntbt"} +xref: MedDRA:10058800 {source="Orphanet:309294", source="Orphanet:309294/e"} xref: Orphanet:309294 {source="MONDO:equivalentTo"} xref: SCTID:38795005 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="MONDO:cjm", source="Orphanet:309294/inferred", source="linkedlifedata/inferred"} ! lysosomal storage disease @@ -342895,12 +342736,12 @@ is_a: MONDO:0019251 {source="Orphanet:309294"} ! oligosaccharidosis id: MONDO:0017735 name: congenital aortic valve stenosis subset: ordo_morphological_anomaly {source="Orphanet:3093"} -xref: ICD10CM:Q23.0 {source="Orphanet:3093", source="ORDO:3093/e"} +xref: ICD10CM:Q23.0 {source="Orphanet:3093", source="Orphanet:3093/e"} xref: ICD9:746.3 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10010371 {source="Orphanet:3093", source="ORDO:3093/e"} +xref: MedDRA:10010371 {source="Orphanet:3093", source="Orphanet:3093/e"} xref: Orphanet:3093 {source="MONDO:equivalentTo"} xref: SCTID:18546004 {source="MONDO:equivalentTo"} -xref: UMLS:C0152417 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3093", source="ORDO:3093/e"} +xref: UMLS:C0152417 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3093", source="Orphanet:3093/e"} is_a: MONDO:0020286 {source="Orphanet:3093", source="indirect"} ! aortic malformation is_a: MONDO:0020293 {source="Orphanet:3093", source="indirect"} ! ascending aorta anomaly is_a: MONDO:0042981 {source="linkedlifedata"} ! aortic valve stenosis @@ -342912,11 +342753,11 @@ id: MONDO:0017736 name: disorder of sialic acid metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309319"} -xref: ICD10CM:E77.8 {source="Orphanet:309319", source="ORDO:309319/attributed", source="ORDO:309319/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309319", source="Orphanet:309319/attributed", source="Orphanet:309319/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:309319 {source="MONDO:equivalentTo"} xref: SCTID:238050009 {source="MONDO:equivalentTo"} -xref: UMLS:C0342851 {source="Orphanet:309319", source="ORDO:309319/e", source="MONDO:equivalentTo"} +xref: UMLS:C0342851 {source="Orphanet:309319", source="MONDO:equivalentTo", source="Orphanet:309319/e"} is_a: MONDO:0002561 {source="Orphanet:309319"} ! lysosomal storage disease [Term] @@ -342926,7 +342767,7 @@ subset: gard_rare {source="GARD:0010871"} subset: ordo_clinical_subtype {source="Orphanet:309331"} synonym: "Intermediate Salla disease" RELATED [GARD:0010871] xref: GARD:0010871 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:309331/attributed", source="ORDO:309331/ntbt", source="Orphanet:309331"} +xref: ICD10CM:E77.8 {source="Orphanet:309331", source="Orphanet:309331/attributed", source="Orphanet:309331/ntbt"} xref: Orphanet:309331 {source="MONDO:equivalentTo"} xref: UMLS:CN203640 {source="MONDO:equivalentTo"} is_a: MONDO:0019366 {source="Orphanet:309331"} ! free sialic acid storage disease @@ -342937,7 +342778,7 @@ id: MONDO:0017738 name: lysosomal glycogen storage disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309337"} -xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:309337", source="ORDO:309337/attributed", source="ORDO:309337/ntbt"} +xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:309337/attributed", source="Orphanet:309337/ntbt", source="Orphanet:309337"} xref: Orphanet:309337 {source="MONDO:equivalentTo"} xref: UMLS:CN203642 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:309337"} ! lysosomal storage disease @@ -342959,7 +342800,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309347"} synonym: "disorder of protein N-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "protein N-linked glycosylation disease" EXACT [MONDO:design_pattern] -xref: ICD10CM:E77.8 {source="ORDO:309347/attributed", source="ORDO:309347/ntbt", source="Orphanet:309347"} +xref: ICD10CM:E77.8 {source="Orphanet:309347/attributed", source="Orphanet:309347/ntbt", source="Orphanet:309347"} xref: Orphanet:309347 {source="MONDO:equivalentTo"} xref: UMLS:CN227187 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309347"} ! congenital disorder of glycosylation @@ -342974,7 +342815,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309447"} synonym: "disorder of protein O-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "protein O-linked glycosylation disease" EXACT [MONDO:design_pattern] -xref: ICD10CM:E77.8 {source="Orphanet:309447", source="ORDO:309447/attributed", source="ORDO:309447/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309447/attributed", source="Orphanet:309447/ntbt", source="Orphanet:309447"} xref: Orphanet:309447 {source="MONDO:equivalentTo"} xref: UMLS:CN227188 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309447"} ! congenital disorder of glycosylation @@ -342986,7 +342827,7 @@ id: MONDO:0017742 name: disorder of O-xylosylglycan synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309450"} -xref: ICD10CM:E77.8 {source="Orphanet:309450", source="ORDO:309450/attributed", source="ORDO:309450/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309450/attributed", source="Orphanet:309450/ntbt", source="Orphanet:309450"} xref: Orphanet:309450 {source="MONDO:equivalentTo"} xref: UMLS:CN227189 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309450"} ! disorder of protein O-glycosylation @@ -342996,7 +342837,7 @@ id: MONDO:0017743 name: disorder of O-N-acetylgalactosaminylglycan synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309458"} -xref: ICD10CM:E77.8 {source="Orphanet:309458", source="ORDO:309458/attributed", source="ORDO:309458/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309458/attributed", source="Orphanet:309458/ntbt", source="Orphanet:309458"} xref: Orphanet:309458 {source="MONDO:equivalentTo"} xref: UMLS:CN227190 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309458"} ! disorder of protein O-glycosylation @@ -343006,7 +342847,7 @@ id: MONDO:0017744 name: disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309463"} -xref: ICD10CM:E77.8 {source="ORDO:309463/attributed", source="ORDO:309463/ntbt", source="Orphanet:309463"} +xref: ICD10CM:E77.8 {source="Orphanet:309463", source="Orphanet:309463/attributed", source="Orphanet:309463/ntbt"} xref: Orphanet:309463 {source="MONDO:equivalentTo"} xref: UMLS:CN227191 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309463"} ! disorder of protein O-glycosylation @@ -343016,7 +342857,7 @@ id: MONDO:0017745 name: disorder of O-mannosylglycan synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309469"} -xref: ICD10CM:E77.8 {source="Orphanet:309469", source="ORDO:309469/attributed", source="ORDO:309469/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309469/attributed", source="Orphanet:309469/ntbt", source="Orphanet:309469"} xref: Orphanet:309469 {source="MONDO:equivalentTo"} xref: UMLS:CN227192 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309469"} ! disorder of protein O-glycosylation @@ -343030,10 +342871,10 @@ synonym: "atypical RTT" EXACT [Orphanet:3095] synonym: "Rett like syndrome" RELATED [GARD:0004694] synonym: "Rett syndrome variant" EXACT [Orphanet:3095] xref: GARD:0004694 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:F84.2 {source="ORDO:3095/attributed", source="ORDO:3095/ntbt", source="Orphanet:3095"} -xref: OMIM:300672 {source="ORDO:3095/btnt", source="MONDO:superClassOf", source="Orphanet:3095"} -xref: OMIM:312750 {source="MONDO:subClassOf", source="ORDO:3095/ntbt", source="Orphanet:3095"} -xref: OMIM:613454 {source="ORDO:3095/btnt", source="MONDO:superClassOf", source="Orphanet:3095"} +xref: ICD10CM:F84.2 {source="Orphanet:3095", source="Orphanet:3095/attributed", source="Orphanet:3095/ntbt"} +xref: OMIM:300672 {source="MONDO:superClassOf", source="Orphanet:3095", source="Orphanet:3095/btnt"} +xref: OMIM:312750 {source="MONDO:subClassOf", source="Orphanet:3095", source="Orphanet:3095/ntbt"} +xref: OMIM:613454 {source="MONDO:superClassOf", source="Orphanet:3095", source="Orphanet:3095/btnt"} xref: Orphanet:3095 {source="MONDO:equivalentTo"} xref: SCTID:718393002 {source="MONDO:equivalentTo"} xref: UMLS:C2748910 {source="MONDO:equivalentTo", source="Orphanet:3095"} @@ -343052,7 +342893,7 @@ id: MONDO:0017747 name: disorder of fucoglycosan synthesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309505"} -xref: ICD10CM:E77.8 {source="Orphanet:309505", source="ORDO:309505/attributed", source="ORDO:309505/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309505", source="Orphanet:309505/attributed", source="Orphanet:309505/ntbt"} xref: Orphanet:309505 {source="MONDO:equivalentTo"} xref: UMLS:CN227193 {source="MONDO:equivalentTo"} is_a: MONDO:0017741 {source="Orphanet:309505"} ! disorder of protein O-glycosylation @@ -343064,7 +342905,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309515"} synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [Orphanet:309515] synonym: "disorder of glycosphingolipid and GPI-anchored proteins glycosylation" EXACT [Orphanet:309515] -xref: ICD10CM:E77.8 {source="ORDO:309515/attributed", source="ORDO:309515/ntbt", source="Orphanet:309515"} +xref: ICD10CM:E77.8 {source="Orphanet:309515/attributed", source="Orphanet:309515/ntbt", source="Orphanet:309515"} xref: Orphanet:309515 {source="MONDO:equivalentTo"} xref: UMLS:CN227194 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309515"} ! congenital disorder of glycosylation @@ -343075,7 +342916,7 @@ id: MONDO:0017749 name: disorder of multiple glycosylation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309526"} -xref: ICD10CM:E77.8 {source="ORDO:309526/attributed", source="ORDO:309526/ntbt", source="Orphanet:309526"} +xref: ICD10CM:E77.8 {source="Orphanet:309526/attributed", source="Orphanet:309526/ntbt", source="Orphanet:309526"} xref: Orphanet:309526 {source="MONDO:equivalentTo"} xref: UMLS:CN227195 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 {source="Orphanet:309526"} ! congenital disorder of glycosylation @@ -343086,7 +342927,7 @@ name: defect in conserved oligomeric Golgi complex subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309568"} synonym: "defect in COG complex" EXACT [Orphanet:309568] -xref: ICD10CM:E77.8 {source="Orphanet:309568", source="ORDO:309568/attributed", source="ORDO:309568/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:309568/attributed", source="Orphanet:309568/ntbt", source="Orphanet:309568"} xref: Orphanet:309568 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="MONDO:Redundant", source="Orphanet:309568"} ! disorder of multiple glycosylation intersection_of: MONDO:0017749 ! disorder of multiple glycosylation @@ -343103,7 +342944,7 @@ id: MONDO:0017752 name: defect in V-ATPase subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309778"} -xref: ICD10CM:E77.8 {source="ORDO:309778/attributed", source="ORDO:309778/ntbt", source="Orphanet:309778"} +xref: ICD10CM:E77.8 {source="Orphanet:309778/attributed", source="Orphanet:309778/ntbt", source="Orphanet:309778"} xref: Orphanet:309778 {source="MONDO:equivalentTo"} is_a: MONDO:0017749 {source="Orphanet:309778"} ! disorder of multiple glycosylation @@ -343136,14 +342977,14 @@ synonym: "inborn error of porphyrin-containing compound metabolic process" EXACT synonym: "inborn porphyrin-containing compound metabolic process disorder" EXACT [] synonym: "inherited disorder of porphyrin metabolism" EXACT [] synonym: "rare inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E80.0 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.1 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.2 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.3 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.4 {source="Orphanet:309813", source="MONDO:relatedTo", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.5 {source="Orphanet:309813", source="MONDO:superClassOf", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.6 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"} -xref: ICD10CM:E80.7 {source="Orphanet:309813", source="ORDO:309813/specific", source="ORDO:309813/btnt"} +xref: ICD10CM:E80.0 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.1 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.2 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.3 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.4 {source="Orphanet:309813", source="MONDO:relatedTo", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.5 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="MONDO:superClassOf", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.6 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} +xref: ICD10CM:E80.7 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"} xref: Orphanet:309813 {source="MONDO:equivalentTo"} xref: SCTID:403832004 {source="MONDO:equivalentTo"} xref: UMLS:C1275125 {source="MONDO:equivalentTo"} @@ -343207,7 +343048,7 @@ subset: ordo_group_of_disorders {source="Orphanet:309830"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:309830 {source="MONDO:equivalentTo"} xref: SCTID:237921002 {source="MONDO:equivalentTo"} -xref: UMLS:C0342685 {source="MONDO:equivalentTo", source="Orphanet:309830", source="ORDO:309830/e"} +xref: UMLS:C0342685 {source="Orphanet:309830/e", source="MONDO:equivalentTo", source="Orphanet:309830"} is_a: MONDO:0019219 {source="MONDO:Redundant", source="Orphanet:309830"} ! inborn disorder of neurotransmitter metabolism and transport intersection_of: MONDO:0019219 ! inborn disorder of neurotransmitter metabolism and transport intersection_of: disease_has_basis_in_disruption_of GO:0042423 ! catecholamine biosynthetic process @@ -343226,14 +343067,14 @@ id: MONDO:0017761 name: disorder of mineral absorption and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309836"} -xref: ICD10CM:E83.0 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.1 {source="Orphanet:309836", source="MONDO:relatedTo", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.2 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.3 {source="Orphanet:309836", source="MONDO:relatedTo", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.4 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.5 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.8 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"} -xref: ICD10CM:E83.9 {source="Orphanet:309836", source="ORDO:309836/specific", source="ORDO:309836/btnt"} +xref: ICD10CM:E83.0 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.1 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.2 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.3 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.4 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.5 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.8 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} +xref: ICD10CM:E83.9 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"} xref: Orphanet:309836 {source="MONDO:equivalentTo"} xref: UMLS:CN227205 {source="MONDO:equivalentTo"} is_a: MONDO:0017757 {source="Orphanet:309836"} ! disorder of metabolite absorption and transport @@ -343248,12 +343089,12 @@ synonym: "copper Transport disorders" RELATED [GTR:AN0119091] synonym: "inborn cellular copper ion homeostasis disorder" EXACT [] synonym: "inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E83.0 {source="ORDO:309839/e", source="ORDO:309839/specific", source="Orphanet:309839"} +xref: ICD10CM:E83.0 {source="Orphanet:309839", source="Orphanet:309839/specific", source="Orphanet:309839/e"} xref: ICD9:275.1 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10061091 {source="ORDO:309839/e", source="Orphanet:309839"} +xref: MedDRA:10061091 {source="Orphanet:309839", source="Orphanet:309839/e"} xref: Orphanet:309839 {source="MONDO:equivalentTo"} xref: SCTID:79886009 {source="MONDO:equivalentTo"} -xref: UMLS:C0012714 {source="ORDO:309839/e", source="Orphanet:309839", source="MONDO:equivalentTo"} +xref: UMLS:C0012714 {source="Orphanet:309839", source="MONDO:equivalentTo", source="Orphanet:309839/e"} xref: UMLS:CN043585 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309839"} ! disorder of mineral absorption and transport intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -343264,7 +343105,7 @@ id: MONDO:0017763 name: disorder of iron metabolism and transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309842"} -xref: ICD10CM:E83.1 {source="MONDO:relatedTo", source="ORDO:309842/e", source="ORDO:309842/specific", source="Orphanet:309842"} +xref: ICD10CM:E83.1 {source="Orphanet:309842/specific", source="MONDO:relatedTo", source="Orphanet:309842/e", source="Orphanet:309842"} xref: Orphanet:309842 {source="MONDO:equivalentTo"} xref: UMLS:CN227206 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309842"} ! disorder of mineral absorption and transport @@ -343276,12 +343117,12 @@ name: disorder of zinc metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309845"} synonym: "disorder of zinc metabolism and transport" RELATED [Orphanet:309845] -xref: ICD10CM:E83.2 {source="ORDO:309845/specific", source="Orphanet:309845", source="ORDO:309845/e"} +xref: ICD10CM:E83.2 {source="Orphanet:309845/specific", source="Orphanet:309845/e", source="Orphanet:309845"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048260 {source="Orphanet:309845", source="ORDO:309845/e"} +xref: MedDRA:10048260 {source="Orphanet:309845/e", source="Orphanet:309845"} xref: Orphanet:309845 {source="MONDO:equivalentTo"} xref: SCTID:46727001 {source="MONDO:equivalentTo"} -xref: UMLS:C0268085 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309845", source="ORDO:309845/e"} +xref: UMLS:C0268085 {source="Orphanet:309845/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:309845"} is_a: MONDO:0017761 {source="Orphanet:309845"} ! disorder of mineral absorption and transport [Term] @@ -343293,7 +343134,7 @@ subset: ordo_group_of_disorders {source="Orphanet:309848"} synonym: "inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn magnesium ion transport disorder" EXACT [] synonym: "rare inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E83.4 {source="Orphanet:309848", source="ORDO:309848/attributed", source="ORDO:309848/ntbt"} +xref: ICD10CM:E83.4 {source="Orphanet:309848/attributed", source="Orphanet:309848/ntbt", source="Orphanet:309848"} xref: Orphanet:309848 {source="MONDO:equivalentTo"} xref: UMLS:CN227207 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309848"} ! disorder of mineral absorption and transport @@ -343305,7 +343146,7 @@ id: MONDO:0017766 name: disorder of manganese transport subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309851"} -xref: ICD10CM:E83.8 {source="ORDO:309851/attributed", source="ORDO:309851/ntbt", source="Orphanet:309851"} +xref: ICD10CM:E83.8 {source="Orphanet:309851/attributed", source="Orphanet:309851/ntbt", source="Orphanet:309851"} xref: Orphanet:309851 {source="MONDO:equivalentTo"} xref: UMLS:CN227208 {source="MONDO:equivalentTo"} is_a: MONDO:0017761 {source="Orphanet:309851"} ! disorder of mineral absorption and transport @@ -343323,20 +343164,19 @@ synonym: "RHF - rheumatic fever" EXACT [DOID:1586] xref: DOID:1586 {source="MONDO:equivalentTo", source="EFO:1001160"} xref: EFO:1001160 {source="MONDO:equivalentTo"} xref: GARD:0005699 {source="MONDO:equivalentTo"} -xref: ICD10CM:I00 {source="DOID:1586", source="ORDO:3099/btnt", source="Orphanet:3099"} -xref: ICD10CM:I00-I02 {source="DOID:1586"} -xref: ICD10CM:I00-I02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:I01.0 {source="ORDO:3099/btnt", source="Orphanet:3099"} -xref: ICD10CM:I01.1 {source="ORDO:3099/btnt", source="Orphanet:3099"} -xref: ICD10CM:I01.2 {source="ORDO:3099/btnt", source="Orphanet:3099"} -xref: ICD10CM:I01.8 {source="ORDO:3099/btnt", source="Orphanet:3099"} -xref: ICD10CM:I01.9 {source="ORDO:3099/btnt", source="Orphanet:3099"} +xref: ICD10CM:I00 {source="DOID:1586", source="Orphanet:3099/btnt", source="Orphanet:3099"} +xref: ICD10CM:I00-I02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1586", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:I01.0 {source="Orphanet:3099/btnt", source="Orphanet:3099"} +xref: ICD10CM:I01.1 {source="Orphanet:3099/btnt", source="Orphanet:3099"} +xref: ICD10CM:I01.2 {source="Orphanet:3099/btnt", source="Orphanet:3099"} +xref: ICD10CM:I01.8 {source="Orphanet:3099/btnt", source="Orphanet:3099"} +xref: ICD10CM:I01.9 {source="Orphanet:3099/btnt", source="Orphanet:3099"} xref: ICD9:390 {source="DOID:1586"} xref: ICD9:390-392.99 {source="DOID:1586"} -xref: MedDRA:10039054 {source="Orphanet:3099", source="EFO:1001160", source="ORDO:3099/e"} -xref: MESH:D012213 {source="DOID:1586", source="MONDO:equivalentTo", source="Orphanet:3099", source="EFO:1001160", source="ORDO:3099/e"} +xref: MedDRA:10039054 {source="Orphanet:3099/e", source="Orphanet:3099", source="EFO:1001160"} +xref: MESH:D012213 {source="DOID:1586", source="Orphanet:3099/e", source="MONDO:equivalentTo", source="Orphanet:3099", source="EFO:1001160"} xref: NCIT:C34984 {source="DOID:1586", source="MONDO:equivalentTo", source="EFO:1001160"} -xref: OMIM:268240 {source="MONDO:superClassOf", source="ORDO:3099/btnt", source="Orphanet:3099"} +xref: OMIM:268240 {source="MONDO:superClassOf", source="Orphanet:3099/btnt", source="Orphanet:3099"} xref: Orphanet:3099 {source="MONDO:equivalentTo"} xref: SCTID:155264006 {source="DOID:1586"} xref: SCTID:155265007 {source="DOID:1586"} @@ -343349,7 +343189,7 @@ xref: SCTID:266276003 {source="DOID:1586"} xref: SCTID:274095001 {source="DOID:1586"} xref: SCTID:58718002 {source="DOID:1586", source="MONDO:equivalentTo", source="EFO:1001160"} xref: SCTID:81077008 {source="MONDO:relatedTo", source="DOID:1586"} -xref: UMLS:C0035436 {source="DOID:1586", source="MONDO:equivalentTo", source="NCIT:C34984", source="Orphanet:3099", source="ORDO:3099/e"} +xref: UMLS:C0035436 {source="DOID:1586", source="Orphanet:3099/e", source="MONDO:equivalentTo", source="NCIT:C34984", source="Orphanet:3099"} xref: UMLS:C0264743 {source="DOID:1586", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005554 {source="MESH:D012213", source="Orphanet:3099"} ! rheumatic disorder is_a: MONDO:0021673 {source="https://orcid.org/0000-0001-5208-3432"} ! post-bacterial disorder @@ -343368,13 +343208,13 @@ subset: ordo_group_of_disorders {source="Orphanet:310"} synonym: "epilepsy, sensory-induced" EXACT [DOID:2548] xref: DOID:2548 {source="MONDO:equivalentTo", source="EFO:1001146"} xref: EFO:1001146 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.8 {source="ORDO:310/ntbt", source="Orphanet:310"} +xref: ICD10CM:G40.8 {source="Orphanet:310/ntbt", source="Orphanet:310"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D020195 {source="MONDO:equivalentTo", source="EFO:1001146", source="ORDO:310/e", source="DOID:2548", source="Orphanet:310"} +xref: MESH:D020195 {source="Orphanet:310/e", source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548", source="Orphanet:310"} xref: NCIT:C85041 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548"} xref: Orphanet:310 {source="MONDO:equivalentTo"} xref: SCTID:79745005 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548"} -xref: UMLS:C0270857 {source="MONDO:equivalentTo", source="NCIT:C85041", source="ORDO:310/e", source="DOID:2548", source="Orphanet:310"} +xref: UMLS:C0270857 {source="Orphanet:310/e", source="MONDO:equivalentTo", source="NCIT:C85041", source="DOID:2548", source="Orphanet:310"} is_a: MONDO:0005027 {source="DOID:2548/inferred", source="EFO:1001146", source="MESH:D020195", source="MONDO:Redundant", source="NCIT:C85041", source="indirect", source="linkedlifedata"} ! epilepsy is_a: MONDO:0100036 {source="DOID:2548", source="http://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy relationship: excluded_subClassOf MONDO:0020072 {source="Orphanet:310"} ! childhood-onset epilepsy syndrome @@ -343396,7 +343236,7 @@ name: Robinow-like syndrome def: "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." [Orphanet:3105] subset: ordo_malformation_syndrome {source="Orphanet:3105"} synonym: "Saal-Greenstein syndrome" EXACT [Orphanet:3105] -xref: ICD10CM:Q87.1 {source="Orphanet:3105", source="ORDO:3105/attributed", source="ORDO:3105/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:3105/attributed", source="Orphanet:3105/ntbt", source="Orphanet:3105"} xref: Orphanet:3105 {source="MONDO:equivalentTo"} xref: SCTID:721905000 {source="MONDO:equivalentTo"} xref: UMLS:C4302956 {source="MONDO:equivalentTo"} @@ -343416,11 +343256,11 @@ synonym: "MRKH" EXACT ABBREVIATION [NCIT:C124853] synonym: "MRKH syndrome" EXACT [Orphanet:3109] synonym: "Mullerian aplasia/dysgenesis" EXACT [NCIT:C124853] synonym: "Rokitansky syndrome" EXACT [Orphanet:3109] -xref: ICD10CM:Q51.8 {source="ORDO:3109/attributed", source="ORDO:3109/ntbt", source="Orphanet:3109"} -xref: MedDRA:10065148 {source="Orphanet:3109", source="ORDO:3109/e"} +xref: ICD10CM:Q51.8 {source="Orphanet:3109", source="Orphanet:3109/attributed", source="Orphanet:3109/ntbt"} +xref: MedDRA:10065148 {source="Orphanet:3109", source="Orphanet:3109/e"} xref: NCIT:C124853 {source="MONDO:equivalentTo"} -xref: OMIM:277000 {source="ORDO:3109/btnt", source="MONDO:superClassOf", source="Orphanet:3109"} -xref: OMIM:601076 {source="ORDO:3109/btnt", source="MONDO:superClassOf", source="Orphanet:3109"} +xref: OMIM:277000 {source="MONDO:superClassOf", source="Orphanet:3109", source="Orphanet:3109/btnt"} +xref: OMIM:601076 {source="MONDO:superClassOf", source="Orphanet:3109", source="Orphanet:3109/btnt"} xref: Orphanet:3109 {source="MONDO:equivalentTo"} xref: UMLS:C1698581 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3109", source="NCIT:C124853"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124853", source="indirect"} ! syndromic disease @@ -343431,7 +343271,7 @@ is_a: MONDO:0019721 {source="Orphanet:3109"} ! syndromic renal or urinary tract id: MONDO:0017772 name: oral erosive lichen subset: ordo_disease {source="Orphanet:31142"} -xref: ICD10CM:L43.8 {source="ORDO:31142/ntbt", source="Orphanet:31142"} +xref: ICD10CM:L43.8 {source="Orphanet:31142/ntbt", source="Orphanet:31142"} xref: Orphanet:31142 {source="MONDO:equivalentTo"} xref: UMLS:CN203692 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder @@ -343442,13 +343282,13 @@ name: hypoalphalipoproteinemia def: "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." [NCIT:C84774] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:31153"} -xref: ICD10CM:E78.6 {source="ORDO:31153/attributed", source="ORDO:31153/ntbt", source="Orphanet:31153"} -xref: MedDRA:10065156 {source="ORDO:31153/e", source="Orphanet:31153"} -xref: MESH:D052456 {source="MONDO:equivalentTo", source="ORDO:31153/e", source="Orphanet:31153"} +xref: ICD10CM:E78.6 {source="Orphanet:31153/attributed", source="Orphanet:31153/ntbt", source="Orphanet:31153"} +xref: MedDRA:10065156 {source="Orphanet:31153/e", source="Orphanet:31153"} +xref: MESH:D052456 {source="Orphanet:31153/e", source="MONDO:equivalentTo", source="Orphanet:31153"} xref: NCIT:C84774 {source="MONDO:equivalentTo"} xref: Orphanet:31153 {source="MONDO:equivalentTo"} xref: SCTID:190785000 {source="MONDO:equivalentTo"} -xref: UMLS:C0473527 {source="MONDO:equivalentTo", source="ORDO:31153/e", source="Orphanet:31153", source="NCIT:C84774"} +xref: UMLS:C0473527 {source="Orphanet:31153/e", source="MONDO:equivalentTo", source="Orphanet:31153", source="NCIT:C84774"} is_a: MONDO:0005066 {source="MESH:D052456/inferred", source="MONDO:Redundant", source="NCIT:C84774", source="Orphanet:31153/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015904"} ! rare @@ -343460,12 +343300,12 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:31154"} synonym: "hypo-beta-lipoproteinemia" EXACT [DOID:1390] xref: DOID:1390 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.6 {source="ORDO:31154/attributed", source="ORDO:31154/ntbt", source="Orphanet:31154"} -xref: MESH:D006995 {source="MONDO:equivalentTo", source="ORDO:31154/e", source="DOID:1390", source="Orphanet:31154"} +xref: ICD10CM:E78.6 {source="Orphanet:31154/attributed", source="Orphanet:31154/ntbt", source="Orphanet:31154"} +xref: MESH:D006995 {source="Orphanet:31154/e", source="MONDO:equivalentTo", source="DOID:1390", source="Orphanet:31154"} xref: Orphanet:31154 {source="MONDO:equivalentTo"} xref: Orphanet:426 {source="MONDO:subClassOf"} xref: SCTID:190786004 {source="MONDO:equivalentTo", source="DOID:1390"} -xref: UMLS:C0020597 {source="MONDO:equivalentTo", source="ORDO:31154/e", source="DOID:1390", source="Orphanet:31154"} +xref: UMLS:C0020597 {source="Orphanet:31154/e", source="MONDO:equivalentTo", source="DOID:1390", source="Orphanet:31154"} is_a: MONDO:0001822 {source="DOID:1390", source="MESH:D006995"} ! hypolipoproteinemia relationship: has_modifier MONDO:0021136 {source="MONDO:0015904"} ! rare @@ -343488,21 +343328,21 @@ synonym: "Whitmore disease" RELATED [GARD:0009546] synonym: "Whitmore's disease" EXACT [DOID:5052] xref: DOID:5052 {source="MONDO:equivalentTo"} xref: GARD:0009546 {source="MONDO:equivalentTo"} -xref: ICD10CM:A24.1 {source="Orphanet:31202", source="ORDO:31202/btnt"} -xref: ICD10CM:A24.2 {source="Orphanet:31202", source="ORDO:31202/btnt"} -xref: ICD10CM:A24.3 {source="Orphanet:31202", source="ORDO:31202/btnt"} +xref: ICD10CM:A24.1 {source="Orphanet:31202/btnt", source="Orphanet:31202"} +xref: ICD10CM:A24.2 {source="Orphanet:31202/btnt", source="Orphanet:31202"} +xref: ICD10CM:A24.3 {source="Orphanet:31202/btnt", source="Orphanet:31202"} xref: ICD10CM:A24.9 {source="DOID:5052"} xref: ICD9:025 {source="DOID:5052"} -xref: MedDRA:10069748 {source="Orphanet:31202", source="ORDO:31202/e"} -xref: MESH:D008554 {source="Orphanet:31202", source="MONDO:equivalentTo", source="DOID:5052", source="ORDO:31202/e"} +xref: MedDRA:10069748 {source="Orphanet:31202", source="Orphanet:31202/e"} +xref: MESH:D008554 {source="Orphanet:31202", source="MONDO:equivalentTo", source="Orphanet:31202/e", source="DOID:5052"} xref: NCIT:C128336 {source="MONDO:equivalentTo"} -xref: OMIM:615557 {source="Orphanet:31202", source="MONDO:superClassOf", source="ORDO:31202/btnt"} +xref: OMIM:615557 {source="Orphanet:31202/btnt", source="Orphanet:31202", source="MONDO:superClassOf"} xref: Orphanet:31202 {source="MONDO:equivalentTo"} xref: SCTID:186312003 {source="MONDO:equivalentTo"} xref: SCTID:187306003 {source="DOID:5052"} xref: SCTID:34458001 {source="DOID:5052"} xref: SCTID:428111003 {source="DOID:5052"} -xref: UMLS:C0025229 {source="Orphanet:31202", source="MONDO:equivalentTo", source="NCIT:C128336", source="DOID:5052", source="ORDO:31202/e"} +xref: UMLS:C0025229 {source="Orphanet:31202", source="MONDO:equivalentTo", source="NCIT:C128336", source="Orphanet:31202/e", source="DOID:5052"} xref: UMLS:C0348970 {source="MONDO:equivalentTo"} xref: UMLS:C0348971 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:5052"} ! primary bacterial infectious disease @@ -343528,12 +343368,12 @@ xref: DOID:2312 {source="MONDO:equivalentTo", source="EFO:0007397"} xref: EFO:0007397 {source="MONDO:equivalentTo"} xref: GARD:0007210 {source="MONDO:equivalentTo"} xref: ICD10CM:A43 {source="DOID:2312", source="MONDO:equivalentTo"} -xref: ICD10CM:A43.0 {source="Orphanet:31204", source="ORDO:31204/btnt"} -xref: ICD10CM:A43.1 {source="Orphanet:31204", source="ORDO:31204/btnt"} -xref: ICD10CM:A43.8 {source="Orphanet:31204", source="ORDO:31204/btnt"} -xref: ICD10CM:A43.9 {source="DOID:2312", source="Orphanet:31204", source="ORDO:31204/btnt"} -xref: MedDRA:10029444 {source="ORDO:31204/e", source="Orphanet:31204"} -xref: MESH:C536125 {source="ORDO:31204/e", source="Orphanet:31204"} +xref: ICD10CM:A43.0 {source="Orphanet:31204/btnt", source="Orphanet:31204"} +xref: ICD10CM:A43.1 {source="Orphanet:31204/btnt", source="Orphanet:31204"} +xref: ICD10CM:A43.8 {source="Orphanet:31204/btnt", source="Orphanet:31204"} +xref: ICD10CM:A43.9 {source="Orphanet:31204/btnt", source="DOID:2312", source="Orphanet:31204"} +xref: MedDRA:10029444 {source="Orphanet:31204", source="Orphanet:31204/e"} +xref: MESH:C536125 {source="Orphanet:31204", source="Orphanet:31204/e"} xref: MESH:D009617 {source="DOID:2312", source="MONDO:equivalentTo", source="EFO:0007397"} xref: Orphanet:31204 {source="MONDO:equivalentTo"} xref: SCTID:186404005 {source="DOID:2312"} @@ -343563,17 +343403,17 @@ synonym: "classic lamellar ichthyosis" EXACT [Orphanet:313] synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313] synonym: "LI" EXACT ABBREVIATION [Orphanet:313] xref: GARD:0010803 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q80.2 {source="Orphanet:313", source="ORDO:313/specific", source="ORDO:313/e"} -xref: MedDRA:10023686 {source="Orphanet:313", source="ORDO:313/e"} -xref: MESH:D017490 {source="Orphanet:313", source="MONDO:superClassOf", source="ORDO:313/e"} +xref: ICD10CM:Q80.2 {source="Orphanet:313", source="Orphanet:313/e", source="Orphanet:313/specific"} +xref: MedDRA:10023686 {source="Orphanet:313", source="Orphanet:313/e"} +xref: MESH:D017490 {source="Orphanet:313", source="Orphanet:313/e", source="MONDO:superClassOf"} xref: NCIT:C84805 {source="MONDO:equivalentTo"} -xref: OMIM:146750 {source="Orphanet:313", source="ORDO:313/w", source="MONDO:superClassOf"} -xref: OMIM:242300 {source="MONDO:subClassOf", source="Orphanet:313", source="MONDO:relatedTo", source="ORDO:313/ntbt"} -xref: OMIM:601277 {source="Orphanet:313", source="MONDO:superClassOf", source="ORDO:313/btnt"} -xref: OMIM:604777 {source="Orphanet:313", source="MONDO:superClassOf", source="ORDO:313/btnt"} -xref: OMIM:606545 {source="Orphanet:313", source="MONDO:superClassOf", source="ORDO:313/btnt"} -xref: OMIM:612281 {source="Orphanet:313", source="MONDO:superClassOf", source="ORDO:313/btnt"} -xref: OMIM:613943 {source="Orphanet:313", source="MONDO:superClassOf", source="ORDO:313/btnt"} +xref: OMIM:146750 {source="Orphanet:313", source="MONDO:superClassOf", source="Orphanet:313/w"} +xref: OMIM:242300 {source="MONDO:subClassOf", source="Orphanet:313", source="MONDO:relatedTo", source="Orphanet:313/ntbt"} +xref: OMIM:601277 {source="Orphanet:313", source="Orphanet:313/btnt", source="MONDO:superClassOf"} +xref: OMIM:604777 {source="Orphanet:313", source="Orphanet:313/btnt", source="MONDO:superClassOf"} +xref: OMIM:606545 {source="Orphanet:313", source="Orphanet:313/btnt", source="MONDO:superClassOf"} +xref: OMIM:612281 {source="Orphanet:313", source="Orphanet:313/btnt", source="MONDO:superClassOf"} +xref: OMIM:613943 {source="Orphanet:313", source="Orphanet:313/btnt", source="MONDO:superClassOf"} xref: Orphanet:313 {source="MONDO:equivalentTo"} xref: UMLS:C0079154 {source="NCIT:C84805", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005093 {source="Orphanet:313/inferred"} ! skin disorder @@ -343594,13 +343434,13 @@ synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_ synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "NAGA deficiency" EXACT [Orphanet:3137] synonym: "Schindler disease" EXACT [Orphanet:3137] -xref: ICD10CM:E77.1 {source="Orphanet:3137", source="ORDO:3137/attributed", source="ORDO:3137/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:3137/attributed", source="Orphanet:3137/ntbt", source="Orphanet:3137"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:609241 {source="Orphanet:3137", source="MONDO:superClassOf", source="ORDO:3137/btnt"} -xref: OMIM:609242 {source="Orphanet:3137", source="MONDO:superClassOf", source="ORDO:3137/btnt"} +xref: OMIM:609241 {source="Orphanet:3137/btnt", source="Orphanet:3137", source="MONDO:superClassOf"} +xref: OMIM:609242 {source="Orphanet:3137/btnt", source="Orphanet:3137", source="MONDO:superClassOf"} xref: Orphanet:3137 {source="MONDO:equivalentTo"} xref: SCTID:238048001 {source="MONDO:equivalentTo"} -xref: UMLS:C0342850 {source="ORDO:3137/e", source="Orphanet:3137", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0342850 {source="Orphanet:3137", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3137/e"} xref: UMLS:C1836544 {source="Orphanet:3137", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019058 {source="Orphanet:3137"} ! neurometabolic disease is_a: MONDO:0019251 {source="Orphanet:3137"} ! oligosaccharidosis @@ -343615,7 +343455,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:313781"} synonym: "20p subtelomeric deletion syndrome" EXACT [Orphanet:313781] synonym: "Del(20)(p13)" EXACT [Orphanet:313781] synonym: "monosomy 20p13" EXACT [Orphanet:313781] -xref: ICD10CM:Q93.5 {source="Orphanet:313781", source="ORDO:313781/attributed", source="ORDO:313781/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:313781/attributed", source="Orphanet:313781/ntbt", source="Orphanet:313781"} xref: Orphanet:313781 {source="MONDO:equivalentTo"} xref: UMLS:CN203720 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:313781"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -343632,8 +343472,8 @@ name: 12p12.1 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:313884"} synonym: "Del(12)(p12.1)" EXACT [Orphanet:313884] synonym: "monosomy 12p12.1" EXACT [Orphanet:313884] -xref: ICD10CM:Q93.5 {source="Orphanet:313884", source="ORDO:313884/attributed", source="ORDO:313884/ntbt"} -xref: OMIM:616803 {source="MONDO:subClassOf", source="Orphanet:313884", source="ORDO:313884/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:313884", source="Orphanet:313884/attributed", source="Orphanet:313884/ntbt"} +xref: OMIM:616803 {source="MONDO:subClassOf", source="Orphanet:313884", source="Orphanet:313884/ntbt"} xref: Orphanet:313884 {source="MONDO:equivalentTo"} xref: UMLS:CN203731 {source="MONDO:equivalentTo"} is_a: MONDO:0022174 {source="Orphanet:313884"} ! chromosome 12p deletion @@ -343647,7 +343487,7 @@ id: MONDO:0017782 name: developmental and speech delay due to SOX5 deficiency def: "Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." [Orphanet:313892] subset: ordo_disease {source="Orphanet:313892"} -xref: OMIM:616803 {source="MONDO:subClassOf", source="ORDO:313892/ntbt", source="Orphanet:313892"} +xref: OMIM:616803 {source="MONDO:subClassOf", source="Orphanet:313892/ntbt", source="Orphanet:313892"} xref: Orphanet:313892 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:313892"} ! syndromic intellectual disability relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -343659,10 +343499,10 @@ name: congenital pancreatic cyst subset: ordo_morphological_anomaly {source="Orphanet:313906"} synonym: "neonatal congenital pancreatic cyst" EXACT [Orphanet:313906] synonym: "true congenital pancreatic cyst" EXACT [Orphanet:313906] -xref: ICD10CM:Q45.2 {source="MONDO:equivalentTo", source="ORDO:313906/e", source="Orphanet:313906"} +xref: ICD10CM:Q45.2 {source="Orphanet:313906/e", source="MONDO:equivalentTo", source="Orphanet:313906"} xref: Orphanet:313906 {source="MONDO:equivalentTo"} xref: SCTID:204808002 {source="MONDO:equivalentTo"} -xref: UMLS:C0341480 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:313906/e", source="Orphanet:313906"} +xref: UMLS:C0341480 {source="Orphanet:313906/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:313906"} is_a: MONDO:0002356 {source="Orphanet:313906"} ! pancreas disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015112"} ! rare relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -343675,8 +343515,8 @@ def: "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare f subset: ordo_disease {source="Orphanet:313920"} synonym: "EBV-associated gastric carcinoma" EXACT [Orphanet:313920] synonym: "EBVaGC" EXACT [Orphanet:313920] -xref: ICD10CM:C16.0 {source="Orphanet:313920", source="ORDO:313920/ntbt"} -xref: ICD10CM:C16.2 {source="Orphanet:313920", source="ORDO:313920/ntbt"} +xref: ICD10CM:C16.0 {source="Orphanet:313920/ntbt", source="Orphanet:313920"} +xref: ICD10CM:C16.2 {source="Orphanet:313920/ntbt", source="Orphanet:313920"} xref: Orphanet:313920 {source="MONDO:equivalentTo"} xref: SCTID:716586009 {source="MONDO:equivalentTo"} xref: UMLS:CN203734 {source="MONDO:equivalentTo"} @@ -343726,7 +343566,7 @@ synonym: "Leiner disease" EXACT [Orphanet:314] synonym: "Leiner-Moussous desquamative erythroderma" RELATED [GARD:0002191, MESH:C535512] xref: GARD:0002191 {source="MONDO:equivalentTo"} xref: HGNC:1331 {source="GARD:0002191"} -xref: ICD10CM:L21.1 {source="Orphanet:314", source="ORDO:314/index", source="ORDO:314/ntbt"} +xref: ICD10CM:L21.1 {source="Orphanet:314/ntbt", source="Orphanet:314", source="Orphanet:314/index"} xref: MESH:C535512 {source="MONDO:equivalentTo"} xref: Orphanet:314 {source="MONDO:equivalentTo"} xref: UMLS:C2930920 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0002191"} @@ -343751,7 +343591,7 @@ id: MONDO:0017789 name: idiopathic linear interstitial keratitis def: "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." [Orphanet:314017] subset: ordo_disease {source="Orphanet:314017"} -xref: ICD10CM:H16.3 {source="Orphanet:314017", source="ORDO:314017/ntbt"} +xref: ICD10CM:H16.3 {source="Orphanet:314017/ntbt", source="Orphanet:314017"} xref: Orphanet:314017 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder relationship: has_modifier MONDO:0700005 ! idiopathic @@ -343782,7 +343622,7 @@ id: MONDO:0017791 name: high bone mass osteogenesis imperfecta subset: ordo_disease {source="Orphanet:314029"} synonym: "high bone mass OI" EXACT [Orphanet:314029] -xref: ICD10CM:Q78.0 {source="Orphanet:314029", source="MONDO:relatedTo", source="ORDO:314029/attributed", source="ORDO:314029/ntbt"} +xref: ICD10CM:Q78.0 {source="Orphanet:314029", source="MONDO:relatedTo", source="Orphanet:314029/attributed", source="Orphanet:314029/ntbt"} xref: Orphanet:314029 {source="MONDO:equivalentTo"} xref: UMLS:CN203741 {source="MONDO:equivalentTo"} is_a: MONDO:0019019 {source="Orphanet:314029"} ! osteogenesis imperfecta @@ -343821,7 +343661,7 @@ name: Xq12-q13.3 duplication syndrome def: "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." [Orphanet:314389] subset: ordo_malformation_syndrome {source="Orphanet:314389"} synonym: "dup(X)(q12-q13.3)" EXACT [Orphanet:314389] -xref: ICD10CM:Q99.8 {source="Orphanet:314389", source="ORDO:314389/attributed", source="ORDO:314389/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:314389", source="Orphanet:314389/attributed", source="Orphanet:314389/ntbt"} xref: Orphanet:314389 {source="MONDO:equivalentTo"} xref: SCTID:764711007 {source="MONDO:equivalentTo"} xref: UMLS:CN203749 {source="MONDO:equivalentTo"} @@ -343846,14 +343686,14 @@ synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419] synonym: "aot" RELATED [GARD:0005747] xref: DOID:0050894 {source="MONDO:equivalentTo"} xref: GARD:0005747 {source="MONDO:equivalentTo"} -xref: ICD10CM:C41.1 {source="ORDO:314419/ntbt", source="Orphanet:314419"} +xref: ICD10CM:C41.1 {source="Orphanet:314419", source="Orphanet:314419/ntbt"} xref: ICDO:9310/0 {source="NCIT:C4313"} -xref: MedDRA:10066796 {source="ORDO:314419/e", source="Orphanet:314419"} +xref: MedDRA:10066796 {source="Orphanet:314419", source="Orphanet:314419/e"} xref: MESH:D000564 {source="MONDO:equivalentTo"} xref: NCIT:C4313 {source="MONDO:equivalentTo"} xref: Orphanet:314419 {source="MONDO:equivalentTo"} xref: SCTID:285311001 {source="MONDO:equivalentTo"} -xref: UMLS:C0002448 {source="MONDO:equivalentTo", source="ORDO:314419/e", source="NCIT:C4313", source="Orphanet:314419"} +xref: UMLS:C0002448 {source="MONDO:equivalentTo", source="NCIT:C4313", source="Orphanet:314419", source="Orphanet:314419/e"} xref: UMLS:C0563212 {source="MONDO:equivalentTo"} is_a: MONDO:0005165 {source="DOID:0050894", source="DOID:0050894/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! benign neoplasm is_a: MONDO:0021192 {source="MESH:D000564", source="MONDO:Redundant", source="NCIT:C4313", source="Orphanet:314419", source="indirect"} ! odontogenic neoplasm @@ -343885,7 +343725,7 @@ replaced_by: MONDO:0021192 id: MONDO:0017798 name: Spigelian hernia-cryptorchidism syndrome subset: ordo_malformation_syndrome {source="Orphanet:314432"} -xref: ICD10CM:K43.6 {source="ORDO:314432/ntbt", source="Orphanet:314432"} +xref: ICD10CM:K43.6 {source="Orphanet:314432/ntbt", source="Orphanet:314432"} xref: Orphanet:314432 {source="MONDO:equivalentTo"} xref: UMLS:CN203757 {source="MONDO:equivalentTo"} is_a: MONDO:0015216 {source="Orphanet:314432"} ! syndromic diaphragmatic or abdominal wall malformation @@ -343897,14 +343737,14 @@ def: "A rare syndrome affecting females. It is characterized by pleural effusion subset: ordo_clinical_syndrome {source="Orphanet:314451"} synonym: "Demons-Meigs syndrome" EXACT [Orphanet:314451] synonym: "Meigs' syndrome" EXACT [NCIT:C3223] -xref: ICD10CM:D27 {source="ORDO:314451/ntbt", source="Orphanet:314451"} +xref: ICD10CM:D27 {source="Orphanet:314451/ntbt", source="Orphanet:314451"} xref: ICD9:629.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10027139 {source="ORDO:314451/e", source="Orphanet:314451"} +xref: MedDRA:10027139 {source="Orphanet:314451/e", source="Orphanet:314451"} xref: MESH:D008539 {source="MONDO:equivalentTo"} xref: NCIT:C3223 {source="MONDO:equivalentTo"} xref: Orphanet:314451 {source="MONDO:equivalentTo"} xref: SCTID:63402005 {source="MONDO:equivalentTo"} -xref: UMLS:C0025184 {source="MONDO:equivalentTo", source="NCIT:C3223", source="ORDO:314451/e", source="Orphanet:314451"} +xref: UMLS:C0025184 {source="Orphanet:314451/e", source="MONDO:equivalentTo", source="NCIT:C3223", source="Orphanet:314451"} is_a: MONDO:0000646 {source="Orphanet:314451"} ! ovarian benign neoplasm is_a: MONDO:0021058 {source="NCIT:C3223"} ! neoplastic syndrome relationship: has_modifier MONDO:0021136 {source="MONDO:0019965"} ! rare @@ -343915,7 +343755,7 @@ id: MONDO:0017800 name: pseudo-Meigs syndrome subset: ordo_clinical_syndrome {source="Orphanet:314459"} synonym: "pseudo-Demons-Meigs syndrome" EXACT [Orphanet:314459] -xref: ICD10CM:D27 {source="Orphanet:314459", source="ORDO:314459/ntbt"} +xref: ICD10CM:D27 {source="Orphanet:314459/ntbt", source="Orphanet:314459"} xref: Orphanet:314459 {source="MONDO:equivalentTo"} xref: UMLS:CN203759 {source="MONDO:equivalentTo"} is_a: MONDO:0000646 {source="Orphanet:314459"} ! ovarian benign neoplasm @@ -343927,7 +343767,7 @@ name: atypical Meigs syndrome subset: ordo_clinical_syndrome {source="Orphanet:314466"} synonym: "atypical Demons-Meigs syndrome" EXACT [Orphanet:314466] synonym: "incomplete Meigs syndrome" EXACT [Orphanet:314466] -xref: ICD10CM:D27 {source="Orphanet:314466", source="ORDO:314466/ntbt"} +xref: ICD10CM:D27 {source="Orphanet:314466", source="Orphanet:314466/ntbt"} xref: Orphanet:314466 {source="MONDO:equivalentTo"} xref: UMLS:CN203760 {source="MONDO:equivalentTo"} is_a: MONDO:0000646 {source="Orphanet:314466"} ! ovarian benign neoplasm @@ -343938,7 +343778,7 @@ id: MONDO:0017802 name: ovarian fibrothecoma def: "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." [Orphanet:314478] subset: ordo_disease {source="Orphanet:314478"} -xref: ICD10CM:D27 {source="Orphanet:314478", source="ORDO:314478/ntbt"} +xref: ICD10CM:D27 {source="Orphanet:314478", source="Orphanet:314478/ntbt"} xref: Orphanet:314478 {source="MONDO:equivalentTo"} xref: SCTID:765190005 {source="MONDO:equivalentTo"} xref: UMLS:CN203762 {source="MONDO:equivalentTo"} @@ -343983,8 +343823,8 @@ id: MONDO:0017806 name: 15q overgrowth syndrome def: "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." [Orphanet:314585] subset: ordo_malformation_syndrome {source="Orphanet:314585"} -xref: ICD10CM:Q87.3 {source="ORDO:314585/attributed", source="ORDO:314585/ntbt", source="Orphanet:314585"} -xref: OMIM:614846 {source="MONDO:superClassOf", source="ORDO:314585/btnt", source="Orphanet:314585"} +xref: ICD10CM:Q87.3 {source="Orphanet:314585/attributed", source="Orphanet:314585/ntbt", source="Orphanet:314585"} +xref: OMIM:614846 {source="Orphanet:314585/btnt", source="MONDO:superClassOf", source="Orphanet:314585"} xref: Orphanet:314585 {source="MONDO:equivalentTo"} xref: UMLS:CN203769 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:314585"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -344015,7 +343855,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:314621"} synonym: "DPG-plus syndrome" EXACT [Orphanet:314621] synonym: "Duplication of the pituitary gland-plus syndrome" EXACT [Orphanet:314621] synonym: "hypophyseal duplication" EXACT [Orphanet:314621] -xref: ICD10CM:Q89.2 {source="Orphanet:314621", source="ORDO:314621/attributed", source="ORDO:314621/ntbt"} +xref: ICD10CM:Q89.2 {source="Orphanet:314621", source="Orphanet:314621/attributed", source="Orphanet:314621/ntbt"} xref: Orphanet:314621 {source="MONDO:equivalentTo"} xref: UMLS:CN203774 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder @@ -344026,8 +343866,8 @@ id: MONDO:0017809 name: parkinsonism due to ATP13A2 deficiency subset: ordo_disease {source="Orphanet:314632"} synonym: "CLN12 disease" EXACT [Orphanet:314632] -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:314632", source="ORDO:314632/attributed", source="ORDO:314632/ntbt"} -xref: OMIM:606693 {source="MONDO:subClassOf", source="Orphanet:314632", source="ORDO:314632/ntbt"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:314632", source="Orphanet:314632/attributed", source="Orphanet:314632/ntbt"} +xref: OMIM:606693 {source="MONDO:subClassOf", source="Orphanet:314632", source="Orphanet:314632/ntbt"} xref: Orphanet:314632 {source="MONDO:equivalentTo"} xref: UMLS:CN203776 {source="MONDO:equivalentTo"} is_a: MONDO:0011706 ! Kufor-Rakeb syndrome @@ -344040,7 +343880,7 @@ name: variant ABeta2M amyloidosis def: "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." [Orphanet:314652] subset: ordo_disease {source="Orphanet:314652"} synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet:314652] -xref: ICD10CM:E85.1 {source="ORDO:314652/attributed", source="ORDO:314652/ntbt", source="Orphanet:314652"} +xref: ICD10CM:E85.1 {source="Orphanet:314652/attributed", source="Orphanet:314652/ntbt", source="Orphanet:314652"} xref: Orphanet:314652 {source="MONDO:equivalentTo"} xref: SCTID:722292000 {source="MONDO:equivalentTo"} xref: UMLS:C4302669 {source="MONDO:equivalentTo"} @@ -344055,7 +343895,7 @@ subset: ordo_clinical_subtype {source="Orphanet:314655"} synonym: "5q31.3 microdeletion syndrome" EXACT [Orphanet:314655] synonym: "Del(5)(q31.3)" EXACT [Orphanet:314655] synonym: "monosomy 5q31.3" EXACT [Orphanet:314655] -xref: ICD10CM:Q93.5 {source="Orphanet:314655", source="ORDO:314655/attributed", source="ORDO:314655/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:314655/attributed", source="Orphanet:314655/ntbt", source="Orphanet:314655"} xref: Orphanet:314655 {source="MONDO:equivalentTo"} xref: SCTID:768555009 {source="MONDO:equivalentTo"} xref: UMLS:CN203780 {source="MONDO:equivalentTo"} @@ -344085,8 +343925,8 @@ synonym: "Van Maldergem Wetzburger Verloes syndrome" RELATED [GARD:0005456] xref: DOID:0060238 {source="MONDO:equivalentTo"} xref: GARD:0005456 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C536530 {source="DOID:0060238"} -xref: OMIM:601390 {source="ORDO:314679/e", source="Orphanet:314679", source="MONDO:superClassOf", source="DOID:0060238"} -xref: OMIM:615546 {source="Orphanet:314679", source="MONDO:superClassOf", source="DOID:0060238", source="ORDO:314679/btnt"} +xref: OMIM:601390 {source="Orphanet:314679", source="MONDO:superClassOf", source="DOID:0060238", source="Orphanet:314679/e"} +xref: OMIM:615546 {source="Orphanet:314679/btnt", source="Orphanet:314679", source="MONDO:superClassOf", source="DOID:0060238"} xref: OMIMPS:601390 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:314679 {source="MONDO:equivalentTo", source="DOID:0060238"} xref: UMLS:C1832390 {source="Orphanet:314679", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060238"} @@ -344126,10 +343966,10 @@ name: acquired porencephaly def: "An instance of porencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_etiological_subtype {source="Orphanet:314697"} synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired] -xref: ICD10CM:G93.0 {source="Orphanet:314697", source="ORDO:314697/inclusion", source="ORDO:314697/ntbt"} +xref: ICD10CM:G93.0 {source="Orphanet:314697", source="Orphanet:314697/ntbt", source="Orphanet:314697/inclusion"} xref: Orphanet:314697 {source="MONDO:equivalentTo"} xref: SCTID:38837006 {source="MONDO:equivalentTo"} -xref: UMLS:C0151860 {source="Orphanet:314697", source="MONDO:equivalentTo", source="ORDO:314697/e"} +xref: UMLS:C0151860 {source="Orphanet:314697", source="MONDO:equivalentTo", source="Orphanet:314697/e"} is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:314697"} ! porencephaly intersection_of: MONDO:0017410 ! porencephaly intersection_of: has_modifier MONDO:0021141 ! acquired @@ -344142,12 +343982,12 @@ subset: ordo_clinical_subtype {source="Orphanet:314701"} synonym: "systemic AL amyloidosis" EXACT [Orphanet:314701] synonym: "systemic amyloidosis" EXACT [NCIT:C8299] synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [NCIT:C8299] -xref: ICD10CM:E85.0 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"} -xref: ICD10CM:E85.1 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"} -xref: ICD10CM:E85.2 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"} -xref: ICD10CM:E85.3 {source="ORDO:314701/specific", source="Orphanet:314701", source="ORDO:314701/btnt"} +xref: ICD10CM:E85.0 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} +xref: ICD10CM:E85.1 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} +xref: ICD10CM:E85.2 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} +xref: ICD10CM:E85.3 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} xref: NCIT:C8299 {source="MONDO:equivalentTo"} -xref: OMIM:254500 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:314701", source="ORDO:314701/ntbt"} +xref: OMIM:254500 {source="MONDO:subClassOf", source="Orphanet:314701/ntbt", source="MONDO:relatedTo", source="Orphanet:314701"} xref: Orphanet:314701 {source="MONDO:equivalentTo"} xref: SCTID:89449005 {source="MONDO:equivalentTo"} xref: UMLS:C0268380 {source="NCIT:C8299", source="MONDO:equivalentTo"} @@ -344161,7 +344001,7 @@ name: primary localized amyloidosis def: "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." [Orphanet:314709] subset: ordo_clinical_subtype {source="Orphanet:314709"} synonym: "localized AL amyloidosis" EXACT [Orphanet:314709] -xref: ICD10CM:E85.4 {source="ORDO:314709/e", source="ORDO:314709/specific", source="Orphanet:314709"} +xref: ICD10CM:E85.4 {source="Orphanet:314709/specific", source="Orphanet:314709/e", source="Orphanet:314709"} xref: Orphanet:314709 {source="MONDO:equivalentTo"} is_a: MONDO:0019438 {source="Orphanet:314709"} ! AL amyloidosis @@ -344179,8 +344019,8 @@ id: MONDO:0017819 name: atypical dentin dysplasia due to SMOC2 deficiency subset: ordo_clinical_subtype {source="Orphanet:314721"} synonym: "dentin dysplasia type 1 with microdontia and shape anomalies" EXACT [Orphanet:314721] -xref: ICD10CM:K00.5 {source="Orphanet:314721", source="ORDO:314721/attributed", source="ORDO:314721/ntbt"} -xref: OMIM:125400 {source="MONDO:subClassOf", source="Orphanet:314721", source="ORDO:314721/ntbt"} +xref: ICD10CM:K00.5 {source="Orphanet:314721/attributed", source="Orphanet:314721/ntbt", source="Orphanet:314721"} +xref: OMIM:125400 {source="MONDO:subClassOf", source="Orphanet:314721/ntbt", source="Orphanet:314721"} xref: Orphanet:314721 {source="MONDO:equivalentTo"} xref: UMLS:CN203789 {source="MONDO:equivalentTo"} is_a: MONDO:0007436 ! dentin dysplasia type I @@ -344213,7 +344053,7 @@ subset: ordo_group_of_disorders {source="Orphanet:314759"} synonym: "mixed secreting pituitary adenoma" EXACT [Orphanet:314759] xref: Orphanet:314759 {source="MONDO:equivalentTo"} xref: SCTID:254961003 {source="MONDO:equivalentTo"} -xref: UMLS:C0346305 {source="MONDO:equivalentTo", source="Orphanet:314759", source="ORDO:314759/e"} +xref: UMLS:C0346305 {source="MONDO:equivalentTo", source="Orphanet:314759", source="Orphanet:314759/e"} is_a: MONDO:0003429 {source="Orphanet:314759"} ! functioning pituitary gland adenoma [Term] @@ -344224,7 +344064,7 @@ synonym: "GH and PRL cosecreting pituitary adenoma" EXACT [Orphanet:314769] synonym: "Growth hormone and prolactin cosecreting pituitary adenoma" EXACT [Orphanet:314769] synonym: "Somatolactotropinoma" EXACT [Orphanet:314769] synonym: "Somatoprolactinoma" EXACT [Orphanet:314769] -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="ORDO:314769/ntbt", source="Orphanet:314769"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314769", source="Orphanet:314769/ntbt"} xref: Orphanet:314769 {source="MONDO:equivalentTo"} xref: UMLS:CN203793 {source="MONDO:equivalentTo"} is_a: MONDO:0017822 {source="Orphanet:314769"} ! mixed functioning pituitary adenoma @@ -344235,9 +344075,9 @@ name: familial isolated pituitary adenoma comment: Editor note: TODO check this subset: ordo_disease {source="Orphanet:314777"} synonym: "FIPA" EXACT ABBREVIATION [Orphanet:314777] -xref: ICD10CM:D35.2 {source="Orphanet:314777", source="MONDO:relatedTo", source="ORDO:314777/ntbt"} -xref: OMIM:102200 {source="MONDO:subClassOf", source="Orphanet:314777", source="ORDO:314777/ntbt"} -xref: OMIM:600634 {source="Orphanet:314777", source="MONDO:superClassOf", source="ORDO:314777/btnt"} +xref: ICD10CM:D35.2 {source="Orphanet:314777", source="MONDO:relatedTo", source="Orphanet:314777/ntbt"} +xref: OMIM:102200 {source="MONDO:subClassOf", source="Orphanet:314777", source="Orphanet:314777/ntbt"} +xref: OMIM:600634 {source="Orphanet:314777", source="Orphanet:314777/btnt", source="MONDO:superClassOf"} xref: OMIMPS:102200 {source="MONDO:equivalentTo"} xref: Orphanet:314777 {source="MONDO:equivalentTo"} xref: SCTID:702375004 {source="MONDO:equivalentTo"} @@ -344252,7 +344092,7 @@ relationship: has_modifier MONDO:0021152 {source="OMIMPS:102200"} ! inherited id: MONDO:0017825 name: silent pituitary adenoma subset: ordo_histopathological_subtype {source="Orphanet:314786"} -xref: ICD10CM:D35.2 {source="Orphanet:314786", source="MONDO:relatedTo", source="ORDO:314786/ntbt"} +xref: ICD10CM:D35.2 {source="Orphanet:314786", source="MONDO:relatedTo", source="Orphanet:314786/ntbt"} xref: Orphanet:314786 {source="MONDO:equivalentTo"} xref: UMLS:CN203795 {source="MONDO:equivalentTo"} is_a: MONDO:0019613 {source="Orphanet:314786"} ! non-functioning pituitary adenoma @@ -344261,7 +344101,7 @@ is_a: MONDO:0019613 {source="Orphanet:314786"} ! non-functioning pituitary adeno id: MONDO:0017826 name: null pituitary adenoma subset: ordo_histopathological_subtype {source="Orphanet:314790"} -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="ORDO:314790/ntbt", source="Orphanet:314790"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314790/ntbt", source="Orphanet:314790"} xref: Orphanet:314790 {source="MONDO:equivalentTo"} xref: UMLS:CN203796 {source="MONDO:equivalentTo"} is_a: MONDO:0019613 {source="Orphanet:314790"} ! non-functioning pituitary adenoma @@ -344292,11 +344132,11 @@ synonym: "neurogenic sarcoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "schwannoma, malignant" EXACT [NCIT:C3798] xref: DOID:5940 {source="MONDO:equivalentTo"} xref: GARD:0010872 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C47.9 {source="Orphanet:3148", source="ORDO:3148/ntbt"} +xref: ICD10CM:C47.9 {source="Orphanet:3148/ntbt", source="Orphanet:3148"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9540/3 {source="NCIT:C3798"} xref: ICDO:9560/3 {source="NCIT:C3798"} -xref: MedDRA:10029236 {source="ORDO:3148/e", source="Orphanet:3148"} +xref: MedDRA:10029236 {source="Orphanet:3148", source="Orphanet:3148/e"} xref: MESH:D009442 {source="DOID:5940"} xref: NCIT:C3798 {source="DOID:5940", source="MONDO:equivalentTo"} xref: ONCOTREE:MPNST {source="MONDO:equivalentTo"} @@ -344307,7 +344147,7 @@ xref: SCTID:19897006 {source="DOID:5940"} xref: SCTID:404037002 {source="DOID:5940", source="MONDO:equivalentTo"} xref: SCTID:77418004 {source="DOID:5940"} xref: UMLS:C0206729 {source="Orphanet:3148", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0751690 {source="DOID:5940", source="ORDO:3148/e", source="Orphanet:3148", source="MONDO:equivalentTo", source="NCIT:C3798"} +xref: UMLS:C0751690 {source="DOID:5940", source="Orphanet:3148", source="MONDO:equivalentTo", source="NCIT:C3798", source="Orphanet:3148/e"} is_a: MONDO:0002547 {source="DOID:5940", source="NCIT:C3798", source="ONCOTREE:MPNST"} ! nerve sheath neoplasm is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C3798", source="indirect"} ! sarcoma is_a: MONDO:0016749 {source="Orphanet:3148"} ! tumor of cranial and spinal nerves @@ -344319,7 +344159,7 @@ id: MONDO:0017828 name: primary renal tubular acidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:314822"} -xref: ICD10CM:N25.8 {source="Orphanet:314822", source="ORDO:314822/attributed", source="ORDO:314822/ntbt"} +xref: ICD10CM:N25.8 {source="Orphanet:314822/attributed", source="Orphanet:314822/ntbt", source="Orphanet:314822"} xref: Orphanet:314822 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:314822"} ! inherited renal tubular disease @@ -344331,7 +344171,7 @@ def: "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of subset: ordo_clinical_subtype {source="Orphanet:314889"} synonym: "AD pRTA" EXACT [Orphanet:314889] synonym: "proximal renal tubular acidosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:N25.8 {source="Orphanet:314889", source="ORDO:314889/attributed", source="ORDO:314889/ntbt"} +xref: ICD10CM:N25.8 {source="Orphanet:314889/attributed", source="Orphanet:314889/ntbt", source="Orphanet:314889"} xref: Orphanet:314889 {source="MONDO:equivalentTo"} xref: UMLS:CN203801 {source="MONDO:equivalentTo"} is_a: MONDO:0008369 {source="MONDO:Redundant", source="Orphanet:314889"} ! proximal renal tubular acidosis @@ -344345,7 +344185,7 @@ def: "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative dis subset: ordo_clinical_subtype {source="Orphanet:314911"} synonym: "infantile Canavan disease" EXACT [Orphanet:314911] synonym: "neonatal Canavan disease" EXACT [Orphanet:314911] -xref: ICD10CM:E75.2 {source="Orphanet:314911", source="ORDO:314911/attributed", source="ORDO:314911/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:314911/attributed", source="Orphanet:314911/ntbt", source="Orphanet:314911"} xref: Orphanet:314911 {source="MONDO:equivalentTo"} xref: UMLS:C0751664 {source="Orphanet:314911", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0751666 {source="Orphanet:314911", source="MONDO:notFoundInDiseaseSubset"} @@ -344358,7 +344198,7 @@ name: mild Canavan disease def: "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." [Orphanet:314918] subset: ordo_clinical_subtype {source="Orphanet:314918"} synonym: "juvenile Canavan disease" EXACT [Orphanet:314918] -xref: ICD10CM:E75.2 {source="ORDO:314918/attributed", source="ORDO:314918/ntbt", source="Orphanet:314918"} +xref: ICD10CM:E75.2 {source="Orphanet:314918/attributed", source="Orphanet:314918/ntbt", source="Orphanet:314918"} xref: Orphanet:314918 {source="MONDO:equivalentTo"} xref: UMLS:C0751667 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:314918"} is_a: MONDO:0010079 {source="Orphanet:314918"} ! Canavan disease @@ -344374,9 +344214,9 @@ synonym: "Mycobacterium xenopi caused disease or disorder" EXACT [MONDO:patterns synonym: "Mycobacterium xenopi disease or disorder" EXACT [] synonym: "Mycobacterium xenopi infectious disease" EXACT [] xref: GARD:0010550 {source="MONDO:equivalentTo"} -xref: ICD10CM:A31.8 {source="ORDO:314946/ntbt", source="Orphanet:314946"} +xref: ICD10CM:A31.8 {source="Orphanet:314946", source="Orphanet:314946/ntbt"} xref: Orphanet:314946 {source="MONDO:equivalentTo"} -xref: UMLS:C0275715 {source="MONDO:equivalentTo", source="Orphanet:314946", source="ORDO:314946/e"} +xref: UMLS:C0275715 {source="MONDO:equivalentTo", source="Orphanet:314946", source="Orphanet:314946/e"} is_a: MONDO:0005113 {source="Orphanet:314946"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:1789 ! Mycobacterium xenopi @@ -344431,7 +344271,7 @@ synonym: "erythrokeratoderma \"en cocardes\"" RELATED [Orphanet:315] synonym: "erythrokeratoderma ''en cocardes''" RELATED [Orphanet:315] synonym: "erythrokeratoderma 'en cocardes'" RELATED [GARD:0001722] xref: GARD:0001722 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:315", source="ORDO:315/attributed", source="ORDO:315/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:315", source="Orphanet:315/attributed", source="Orphanet:315/ntbt"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:315 {source="GARD:0001722", source="MONDO:equivalentTo"} xref: SCTID:239062001 {source="MONDO:equivalentTo"} @@ -344446,7 +344286,7 @@ id: MONDO:0017837 name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome def: "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." [Orphanet:3151] subset: ordo_disease {source="Orphanet:3151"} -xref: ICD10CM:G37.8 {source="ORDO:3151/attributed", source="ORDO:3151/ntbt", source="Orphanet:3151"} +xref: ICD10CM:G37.8 {source="Orphanet:3151/attributed", source="Orphanet:3151/ntbt", source="Orphanet:3151"} xref: Orphanet:3151 {source="MONDO:equivalentTo"} xref: UMLS:CN203814 {source="MONDO:equivalentTo"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease @@ -344462,16 +344302,16 @@ synonym: "cortical hyperostosis with syndactyly" EXACT [NCIT:C131133] synonym: "cortical hyperostosis-syndactyly syndrome" EXACT [Orphanet:3152] xref: DOID:0060251 {source="MONDO:equivalentTo"} xref: GARD:0004771 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M85.2 {source="Orphanet:3152", source="ORDO:3152/attributed", source="ORDO:3152/ntbt"} +xref: ICD10CM:M85.2 {source="Orphanet:3152/attributed", source="Orphanet:3152/ntbt", source="Orphanet:3152"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537525 {source="MONDO:equivalentTo", source="Orphanet:3152", source="ORDO:3152/e", source="DOID:0060251"} +xref: MESH:C537525 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="Orphanet:3152", source="DOID:0060251"} xref: NCIT:C131133 {source="MONDO:equivalentTo"} -xref: OMIM:269500 {source="MONDO:superClassOf", source="Orphanet:3152", source="ORDO:3152/btnt"} -xref: OMIM:614305 {source="MONDO:superClassOf", source="Orphanet:3152", source="ORDO:3152/btnt"} +xref: OMIM:269500 {source="MONDO:superClassOf", source="Orphanet:3152/btnt", source="Orphanet:3152"} +xref: OMIM:614305 {source="MONDO:superClassOf", source="Orphanet:3152/btnt", source="Orphanet:3152"} xref: OMIMPS:269500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3152 {source="MONDO:equivalentTo", source="DOID:0060251"} xref: SCTID:17568006 {source="MONDO:equivalentTo", source="DOID:0060251"} -xref: UMLS:C0265301 {source="MONDO:equivalentTo", source="NCIT:C131133", source="Orphanet:3152", source="ORDO:3152/e", source="DOID:0060251"} +xref: UMLS:C0265301 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="NCIT:C131133", source="Orphanet:3152", source="DOID:0060251"} is_a: MONDO:0002185 {source="DOID:0060251", source="MESH:C537525"} ! hyperostosis relationship: disease_has_feature HP:0011001 {source="Orphanet:3152"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3152"} ! obsolete primary bone dysplasia with increased bone density @@ -344483,7 +344323,7 @@ name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, s def: "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." [Orphanet:315306] subset: ordo_clinical_subtype {source="Orphanet:315306"} synonym: "classic 21-OHD CAH, salt wasting form" EXACT [Orphanet:315306] -xref: ICD10CM:E25.0 {source="Orphanet:315306", source="ORDO:315306/attributed", source="ORDO:315306/ntbt"} +xref: ICD10CM:E25.0 {source="Orphanet:315306/attributed", source="Orphanet:315306/ntbt", source="Orphanet:315306"} xref: Orphanet:315306 {source="MONDO:equivalentTo"} is_a: MONDO:0008728 {source="Orphanet:315306"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency @@ -344493,7 +344333,7 @@ name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, s def: "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." [Orphanet:315311] subset: ordo_clinical_subtype {source="Orphanet:315311"} synonym: "classic 21-OHD CAH, simple virilizing form" EXACT [Orphanet:315311] -xref: ICD10CM:E25.0 {source="ORDO:315311/attributed", source="ORDO:315311/ntbt", source="Orphanet:315311"} +xref: ICD10CM:E25.0 {source="Orphanet:315311/attributed", source="Orphanet:315311/ntbt", source="Orphanet:315311"} xref: Orphanet:315311 {source="MONDO:equivalentTo"} is_a: MONDO:0008728 {source="Orphanet:315311"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency @@ -344528,17 +344368,17 @@ synonym: "Senior Loken syndrome" RELATED [GARD:0000322] synonym: "SLSN" EXACT ABBREVIATION [Orphanet:3156] xref: DOID:0050576 {source="MONDO:equivalentTo"} xref: GARD:0000322 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="ORDO:3156/attributed", source="ORDO:3156/ntbt"} -xref: MESH:C537580 {source="Orphanet:3156", source="ORDO:3156/e", source="MONDO:equivalentTo"} -xref: OMIM:266900 {source="Orphanet:3156", source="ORDO:3156/e", source="DOID:0050576", source="MONDO:superClassOf"} -xref: OMIM:606995 {source="Orphanet:3156", source="DOID:0050576", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:606996 {source="Orphanet:3156", source="DOID:0050576", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:609254 {source="Orphanet:3156", source="DOID:0050576", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:610189 {source="Orphanet:3156", source="DOID:0050576", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:613615 {source="Orphanet:3156", source="DOID:0050576", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:614845 {source="Orphanet:3156", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:616307 {source="Orphanet:3156", source="MONDO:superClassOf", source="ORDO:3156/btnt"} -xref: OMIM:616629 {source="Orphanet:3156", source="MONDO:superClassOf", source="ORDO:3156/btnt"} +xref: ICD10CM:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/attributed", source="Orphanet:3156/ntbt"} +xref: MESH:C537580 {source="Orphanet:3156", source="MONDO:equivalentTo", source="Orphanet:3156/e"} +xref: OMIM:266900 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/e", source="MONDO:superClassOf"} +xref: OMIM:606995 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:606996 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:609254 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:610189 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:613615 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:614845 {source="Orphanet:3156", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:616307 {source="Orphanet:3156", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} +xref: OMIM:616629 {source="Orphanet:3156", source="Orphanet:3156/btnt", source="MONDO:superClassOf"} xref: OMIMPS:266900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="DOID:0050576", source="MONDO:equivalentTo"} xref: UMLS:C0403553 {source="Orphanet:3156", source="MONDO:notFoundInDiseaseSubset"} @@ -344563,7 +344403,7 @@ synonym: "congenital sequestration of lung" EXACT [NCIT:C97124] synonym: "pulmonary sequestration" EXACT [GARD:0004593, NCIT:C97124] synonym: "sequestered lobe (pulmonary sequestration)" EXACT [NCIT:C97124] xref: GARD:0004593 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q33.2 {source="Orphanet:3161", source="ORDO:3161/e"} +xref: ICD10CM:Q33.2 {source="Orphanet:3161/e", source="Orphanet:3161"} xref: MESH:D001998 {source="MONDO:equivalentTo"} xref: NCIT:C97124 {source="MONDO:equivalentTo"} xref: Orphanet:3161 {source="MONDO:equivalentTo"} @@ -344591,13 +344431,13 @@ synonym: "Sézary syndrome" EXACT [Orphanet:3162] xref: DOID:8541 {source="MONDO:equivalentTo", source="EFO:1000785"} xref: EFO:1000785 {source="MONDO:equivalentTo"} xref: GARD:0007629 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C84.1 {source="ORDO:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} +xref: ICD10CM:C84.1 {source="Orphanet:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} xref: ICD10CM:C84.10 {source="DOID:8541"} xref: ICD9:202.2 {source="EFO:1000785", source="DOID:8541"} xref: ICDO:9701/3 {source="NCIT:C3366"} -xref: MedDRA:10040493 {source="ORDO:3162/e", source="Orphanet:3162"} +xref: MedDRA:10040493 {source="Orphanet:3162/e", source="Orphanet:3162"} xref: MedDRA:10040500 {source="EFO:1000785"} -xref: MESH:D012751 {source="MONDO:equivalentTo", source="EFO:1000785", source="ORDO:3162/e", source="DOID:8541", source="Orphanet:3162"} +xref: MESH:D012751 {source="Orphanet:3162/e", source="MONDO:equivalentTo", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} xref: NCIT:C3366 {source="MONDO:equivalentTo", source="DOID:8541"} xref: ONCOTREE:SS {source="MONDO:equivalentTo"} xref: Orphanet:3162 {source="MONDO:equivalentTo"} @@ -344605,7 +344445,7 @@ xref: SCTID:118611004 {source="MONDO:equivalentTo", source="DOID:8541"} xref: SCTID:188629004 {source="DOID:8541"} xref: SCTID:188638002 {source="DOID:8541"} xref: SCTID:4950009 {source="DOID:8541"} -xref: UMLS:C0036920 {source="MONDO:equivalentTo", source="NCIT:C3366", source="ORDO:3162/e", source="DOID:8541", source="Orphanet:3162"} +xref: UMLS:C0036920 {source="Orphanet:3162/e", source="MONDO:equivalentTo", source="NCIT:C3366", source="DOID:8541", source="Orphanet:3162"} is_a: MONDO:0000607 {source="DOID:8541", source="EFO:1000785", source="MESH:D012751"} ! primary cutaneous T-cell non-Hodgkin lymphoma is_a: MONDO:0015817 {source="Orphanet:3162"} ! aggressive primary cutaneous T-cell lymphoma @@ -344616,7 +344456,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:316226"} synonym: "SPAX" EXACT ABBREVIATION [Orphanet:316226] xref: DOID:0050952 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="Orphanet:316226", source="MONDO:relatedTo", source="ORDO:316226/index", source="ORDO:316226/ntbt"} +xref: ICD10CM:G11.4 {source="Orphanet:316226", source="Orphanet:316226/index", source="MONDO:relatedTo", source="Orphanet:316226/ntbt"} xref: MESH:C564815 {source="MONDO:equivalentTo"} xref: OMIMPS:108600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:316226 {source="MONDO:equivalentTo"} @@ -344632,7 +344472,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:316235"} synonym: "AD-SPAX" EXACT [Orphanet:316235] synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="ORDO:316235/attributed", source="ORDO:316235/ntbt", source="Orphanet:316235"} +xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:316235/attributed", source="Orphanet:316235/ntbt", source="Orphanet:316235"} xref: Orphanet:316235 {source="MONDO:equivalentTo"} xref: UMLS:CN229111 {source="MONDO:equivalentTo"} is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316235"} ! spastic ataxia @@ -344647,7 +344487,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:316240"} synonym: "AR-SPAX" EXACT [Orphanet:316240] synonym: "spastic ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G11.8 {source="ORDO:316240/attributed", source="ORDO:316240/ntbt", source="Orphanet:316240"} +xref: ICD10CM:G11.8 {source="Orphanet:316240", source="Orphanet:316240/attributed", source="Orphanet:316240/ntbt"} xref: Orphanet:316240 {source="MONDO:equivalentTo"} xref: UMLS:CN229112 {source="MONDO:equivalentTo"} is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316240"} ! spastic ataxia @@ -344671,10 +344511,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:3167"} synonym: "fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" RELATED [GARD:0004867] synonym: "Siegler Brewer Carey syndrome" RELATED [GARD:0004867] xref: GARD:0004867 {source="MONDO:equivalentTo"} -xref: MESH:C537335 {source="Orphanet:3167", source="ORDO:3167/e", source="MONDO:equivalentTo"} +xref: MESH:C537335 {source="Orphanet:3167", source="MONDO:equivalentTo", source="Orphanet:3167/e"} xref: Orphanet:3167 {source="MONDO:equivalentTo"} xref: SCTID:721076000 {source="MONDO:equivalentTo"} -xref: UMLS:C2931473 {source="Orphanet:3167", source="ORDO:3167/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931473 {source="Orphanet:3167", source="MONDO:equivalentTo", source="Orphanet:3167/e"} is_a: MONDO:0005087 {source="Orphanet:3167"} ! respiratory system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome xsd:anyURI {source="GARD:0004867"} @@ -344691,14 +344531,14 @@ synonym: "sirenomelia sequence" RELATED [GARD:0007652] synonym: "Sirenomelus" RELATED [GARD:0007652] synonym: "symmelia" EXACT [NCIT:C118455] xref: GARD:0007652 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:3169", source="ORDO:3169/inclusion", source="ORDO:3169/ntbt"} -xref: MedDRA:10049216 {source="Orphanet:3169", source="ORDO:3169/e"} -xref: MESH:C538595 {source="Orphanet:3169", source="ORDO:3169/e"} +xref: ICD10CM:Q87.2 {source="Orphanet:3169/inclusion", source="Orphanet:3169", source="Orphanet:3169/ntbt"} +xref: MedDRA:10049216 {source="Orphanet:3169", source="Orphanet:3169/e"} +xref: MESH:C538595 {source="Orphanet:3169", source="Orphanet:3169/e"} xref: NCIT:C118455 {source="MONDO:equivalentTo"} -xref: OMIM:600145 {source="MONDO:subClassOf", source="Orphanet:3169", source="ORDO:3169/ntbt"} +xref: OMIM:600145 {source="MONDO:subClassOf", source="Orphanet:3169", source="Orphanet:3169/ntbt"} xref: Orphanet:3169 {source="MONDO:equivalentTo"} xref: SCTID:67254002 {source="MONDO:equivalentTo"} -xref: UMLS:C0037205 {source="Orphanet:3169", source="ORDO:3169/e", source="NCIT:C118455", source="MONDO:equivalentTo"} +xref: UMLS:C0037205 {source="Orphanet:3169", source="NCIT:C118455", source="MONDO:equivalentTo", source="Orphanet:3169/e"} is_a: MONDO:0010831 ! familial caudal dysgenesis property_value: confidence "0.12499999999999978" xsd:double @@ -344731,19 +344571,19 @@ synonym: "progressive symmetric erythrokeratodermia" RELATED [Orphanet:316] synonym: "progressive symmetric erythrokeratodermia, Gottron type" RELATED [Orphanet:316] xref: DOID:0050467 {source="MONDO:equivalentTo"} xref: GARD:0003096 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:317", source="Orphanet:316", source="ORDO:317/attributed", source="ORDO:317/ntbt", source="ORDO:316/attributed", source="ORDO:316/ntbt"} -xref: MedDRA:10049048 {source="ORDO:317/e", source="Orphanet:317"} +xref: ICD10CM:Q82.8 {source="Orphanet:316/attributed", source="Orphanet:316/ntbt", source="Orphanet:317/attributed", source="Orphanet:317/ntbt", source="Orphanet:317", source="Orphanet:316"} +xref: MedDRA:10049048 {source="Orphanet:317", source="Orphanet:317/e"} xref: MESH:C536154 {source="MONDO:equivalentTo"} xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo"} xref: NCIT:C84696 {source="DOID:0050467", source="MONDO:equivalentTo"} -xref: OMIM:133200 {source="ORDO:316/w", source="DOID:0050467", source="Orphanet:317", source="Orphanet:316", source="MONDO:superClassOf", source="ORDO:317/ntbt", source="GARD:0003096"} +xref: OMIM:133200 {source="Orphanet:317/ntbt", source="DOID:0050467", source="Orphanet:317", source="Orphanet:316", source="MONDO:superClassOf", source="GARD:0003096", source="Orphanet:316/w"} xref: OMIMPS:133200 {source="MONDO:equivalentTo"} xref: Orphanet:316 {source="MONDO:equivalentTo", source="OMIM:133200"} xref: Orphanet:317 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:133200"} xref: Orphanet:495 {source="MONDO:superClassOf", source="OMIM:133200", source="GARD:0003096"} xref: SCTID:254184006 {source="DOID:0050467"} xref: SCTID:70041004 {source="DOID:0050467", source="MONDO:equivalentTo"} -xref: UMLS:C0265961 {source="ORDO:317/e", source="DOID:0050467", source="Orphanet:317", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133200", source="NCIT:C84696"} +xref: UMLS:C0265961 {source="DOID:0050467", source="Orphanet:317", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133200", source="Orphanet:317/e", source="NCIT:C84696"} xref: UMLS:C1851479 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:133200"} xref: UMLS:C1851480 {source="DOID:0050467", source="MONDO:notFoundInDiseaseSubset", source="OMIM:133200"} is_a: MONDO:0017262 {source="Orphanet:317", source="PMID:20643494"} ! inherited non-syndromic ichthyosis @@ -344763,7 +344603,7 @@ synonym: "infantile spasms broad thumbs" RELATED [GARD:0003002] synonym: "Tsao Ellingson syndrome" RELATED [GARD:0003002] synonym: "Tsao-Ellingson syndrome" EXACT [Orphanet:3173] xref: GARD:0003002 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.4 {source="ORDO:3173/attributed", source="ORDO:3173/ntbt", source="Orphanet:3173"} +xref: ICD10CM:G40.4 {source="Orphanet:3173/attributed", source="Orphanet:3173/ntbt", source="Orphanet:3173"} xref: Orphanet:3173 {source="GARD:0003002", source="MONDO:equivalentTo"} xref: UMLS:CN203849 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="Orphanet:3173"} ! epilepsy syndrome @@ -344786,23 +344626,23 @@ synonym: "extrinsic allergic pneumonia hypersensitivity pneumonitis" RELATED [GA synonym: "HP" EXACT ABBREVIATION [Orphanet:31740] synonym: "hypersensitivity pneumonitis" EXACT [GARD:0000012] xref: GARD:0000012 {source="MONDO:equivalentTo"} -xref: ICD10CM:J67.0 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.1 {source="Orphanet:31740", source="MONDO:relatedTo", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.2 {source="Orphanet:31740", source="ORDO:31740/btnt", source="MONDO:directSiblingOf"} -xref: ICD10CM:J67.3 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.4 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.5 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.6 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.7 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.8 {source="Orphanet:31740", source="ORDO:31740/btnt"} -xref: ICD10CM:J67.9 {source="Orphanet:31740", source="ORDO:31740/btnt"} +xref: ICD10CM:J67.0 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.1 {source="Orphanet:31740", source="MONDO:relatedTo", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.2 {source="Orphanet:31740", source="Orphanet:31740/btnt", source="MONDO:directSiblingOf"} +xref: ICD10CM:J67.3 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.4 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.5 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.6 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.7 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.8 {source="Orphanet:31740", source="Orphanet:31740/btnt"} +xref: ICD10CM:J67.9 {source="Orphanet:31740", source="Orphanet:31740/btnt"} xref: ICD9:495.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:495.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10001890 {source="Orphanet:31740", source="ORDO:31740/e"} -xref: MESH:D000542 {source="Orphanet:31740", source="MONDO:relatedTo", source="ORDO:31740/e"} +xref: MedDRA:10001890 {source="Orphanet:31740", source="Orphanet:31740/e"} +xref: MESH:D000542 {source="Orphanet:31740", source="MONDO:relatedTo", source="Orphanet:31740/e"} xref: Orphanet:31740 {source="GARD:0000012", source="MONDO:equivalentTo"} xref: SCTID:37471005 {source="MONDO:equivalentTo"} -xref: UMLS:C0002390 {source="Orphanet:31740", source="GARD:0000012", source="MONDO:notFoundInDiseaseSubset", source="ORDO:31740/e"} +xref: UMLS:C0002390 {source="Orphanet:31740", source="GARD:0000012", source="Orphanet:31740/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000771 {source="Orphanet:31740"} ! allergic respiratory disease is_a: MONDO:0017040 {source="Orphanet:31740"} ! exposure-related interstitial lung disease relationship: has_modifier MONDO:0021136 {source="MONDO:0020028"} ! rare @@ -344819,7 +344659,7 @@ def: "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:317419"} synonym: "T-B- SCID" EXACT [Orphanet:317419] -xref: ICD10CM:D81.1 {source="ORDO:317419/specific", source="Orphanet:317419", source="ORDO:317419/e"} +xref: ICD10CM:D81.1 {source="Orphanet:317419", source="Orphanet:317419/e", source="Orphanet:317419/specific"} xref: Orphanet:317419 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="Orphanet:317419"} ! severe combined immunodeficiency @@ -344827,8 +344667,8 @@ is_a: MONDO:0015974 {source="Orphanet:317419"} ! severe combined immunodeficienc id: MONDO:0017856 name: X-linked spasticity-intellectual disability-epilepsy syndrome subset: ordo_disease {source="Orphanet:3175"} -xref: ICD10CM:G25.3 {source="ORDO:3175/attributed", source="ORDO:3175/ntbt", source="Orphanet:3175"} -xref: OMIM:308350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:3175/ntbt", source="Orphanet:3175"} +xref: ICD10CM:G25.3 {source="Orphanet:3175/attributed", source="Orphanet:3175/ntbt", source="Orphanet:3175"} +xref: OMIM:308350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:3175/ntbt", source="Orphanet:3175"} xref: Orphanet:3175 {source="MONDO:equivalentTo"} xref: UMLS:CN203866 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:3175"} ! X-linked syndromic intellectual disability @@ -344839,7 +344679,7 @@ id: MONDO:0017857 name: spina bifida-hypospadias syndrome def: "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." [Orphanet:3176] subset: ordo_malformation_syndrome {source="Orphanet:3176"} -xref: ICD10CM:Q05.9 {source="ORDO:3176/attributed", source="ORDO:3176/ntbt", source="Orphanet:3176"} +xref: ICD10CM:Q05.9 {source="Orphanet:3176/attributed", source="Orphanet:3176/ntbt", source="Orphanet:3176"} xref: Orphanet:3176 {source="MONDO:equivalentTo"} xref: UMLS:CN203872 {source="MONDO:equivalentTo"} is_a: MONDO:0015620 {source="Orphanet:3176"} ! syndromic urogenital tract malformation @@ -344869,13 +344709,13 @@ synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923] synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923] xref: GARD:0009620 {source="MONDO:equivalentTo"} xref: GARD:0009750 {source="MONDO:equivalentTo"} -xref: ICD10CM:C94.0 {source="Orphanet:318", source="ORDO:318/ntbt"} +xref: ICD10CM:C94.0 {source="Orphanet:318", source="Orphanet:318/ntbt"} xref: ICD9:205.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:207.00 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9840/3 {source="NCIT:C8923"} xref: MESH:D004915 {source="MONDO:equivalentTo"} xref: NCIT:C8923 {source="MONDO:equivalentTo"} -xref: OMIM:133180 {source="MONDO:superClassOf", source="Orphanet:318", source="ORDO:318/btnt"} +xref: OMIM:133180 {source="MONDO:superClassOf", source="Orphanet:318", source="Orphanet:318/btnt"} xref: Orphanet:318 {source="MONDO:equivalentTo"} xref: SCTID:93451002 {source="MONDO:equivalentTo"} xref: UMLS:C0023440 {source="MONDO:equivalentTo", source="Orphanet:318", source="GARD:0009750", source="NCIT:C8923"} @@ -344889,7 +344729,7 @@ id: MONDO:0017859 name: colchicine poisoning def: "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." [Orphanet:31824] subset: ordo_clinical_situation {source="Orphanet:31824"} -xref: ICD10CM:T50.4 {source="ORDO:31824/ntbt", source="Orphanet:31824"} +xref: ICD10CM:T50.4 {source="Orphanet:31824", source="Orphanet:31824/ntbt"} xref: ICD9:974.7 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:31824 {source="MONDO:equivalentTo"} xref: SCTID:24354007 {source="MONDO:equivalentTo"} @@ -344903,7 +344743,7 @@ id: MONDO:0017860 name: methanol poisoning def: "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." [Orphanet:31825] subset: ordo_disease {source="Orphanet:31825"} -xref: ICD10CM:T51.1 {source="ORDO:31825/e", source="Orphanet:31825"} +xref: ICD10CM:T51.1 {source="Orphanet:31825", source="Orphanet:31825/e"} xref: Orphanet:31825 {source="MONDO:equivalentTo"} xref: UMLS:CN203895 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31825"} ! poisoning @@ -344916,11 +344756,11 @@ id: MONDO:0017861 name: ethylene glycol poisoning def: "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." [Orphanet:31826] subset: ordo_disease {source="Orphanet:31826"} -xref: ICD10CM:T52.8 {source="ORDO:31826/ntbt", source="Orphanet:31826"} +xref: ICD10CM:T52.8 {source="Orphanet:31826/ntbt", source="Orphanet:31826"} xref: ICD9:982.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:31826 {source="MONDO:equivalentTo"} xref: SCTID:426692001 {source="MONDO:equivalentTo"} -xref: UMLS:C0413194 {source="ORDO:31826/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:31826"} +xref: UMLS:C0413194 {source="Orphanet:31826/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:31826"} is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31826"} ! poisoning intersection_of: MONDO:0029000 ! poisoning intersection_of: realized_in_response_to_stimulus CHEBI:30742 ! ethylene glycol @@ -344931,7 +344771,7 @@ id: MONDO:0017862 name: paraquat poisoning def: "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." [Orphanet:31827] subset: ordo_disease {source="Orphanet:31827"} -xref: ICD10CM:T60.3 {source="ORDO:31827/ntbt", source="Orphanet:31827"} +xref: ICD10CM:T60.3 {source="Orphanet:31827", source="Orphanet:31827/ntbt"} xref: Orphanet:31827 {source="MONDO:equivalentTo"} xref: UMLS:CN227212 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31827"} ! poisoning @@ -344944,7 +344784,7 @@ id: MONDO:0017863 name: digitalis poisoning def: "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances." [Orphanet:31828] subset: ordo_clinical_situation {source="Orphanet:31828"} -xref: ICD10CM:T46.0 {source="ORDO:31828/ntbt", source="Orphanet:31828"} +xref: ICD10CM:T46.0 {source="Orphanet:31828/ntbt", source="Orphanet:31828"} xref: Orphanet:31828 {source="MONDO:equivalentTo"} xref: SCTID:12876009 {source="MONDO:equivalentTo"} xref: UMLS:CN203897 {source="MONDO:equivalentTo"} @@ -344960,12 +344800,12 @@ subset: ordo_morphological_anomaly {source="Orphanet:3188"} synonym: "pulmonary vein stenosis" RELATED [GARD:0004598] synonym: "pulmonary veins stenosis" RELATED [GARD:0004598] xref: GARD:0004598 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q26.3 {source="Orphanet:3188", source="ORDO:3188/e"} +xref: ICD10CM:Q26.3 {source="Orphanet:3188", source="Orphanet:3188/e"} xref: Orphanet:3188 {source="MONDO:equivalentTo"} xref: SCTID:234062003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265915 {source="Orphanet:3188", source="MONDO:notFoundInDiseaseSubset", source="ORDO:3188/e"} +xref: UMLS:C0265915 {source="Orphanet:3188", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3188/e"} xref: UMLS:C0340756 {source="MONDO:equivalentTo"} -xref: UMLS:C0344679 {source="Orphanet:3188", source="MONDO:notFoundInDiseaseSubset", source="ORDO:3188/e"} +xref: UMLS:C0344679 {source="Orphanet:3188", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3188/e"} is_a: MONDO:0020292 {source="Orphanet:3188"} ! congenital anomaly of the great arteries [Term] @@ -344979,12 +344819,12 @@ synonym: "valvar pulmonary stenosis" RELATED [GARD:0004596] synonym: "valvate pulmonary stenosis" RELATED [GARD:0004596] synonym: "valvular pulmonary stenosis" RELATED [GARD:0004596] xref: GARD:0004596 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q22.1 {source="Orphanet:3189", source="ORDO:3189/e", source="MONDO:equivalentTo"} -xref: MedDRA:10037451 {source="Orphanet:3189", source="ORDO:3189/e"} -xref: MESH:D011666 {source="Orphanet:3189", source="ORDO:3189/e", source="MONDO:relatedTo"} -xref: OMIM:265500 {source="Orphanet:3189", source="MONDO:superClassOf", source="ORDO:3189/btnt"} +xref: ICD10CM:Q22.1 {source="Orphanet:3189", source="MONDO:equivalentTo", source="Orphanet:3189/e"} +xref: MedDRA:10037451 {source="Orphanet:3189", source="Orphanet:3189/e"} +xref: MESH:D011666 {source="Orphanet:3189", source="MONDO:relatedTo", source="Orphanet:3189/e"} +xref: OMIM:265500 {source="Orphanet:3189", source="Orphanet:3189/btnt", source="MONDO:superClassOf"} xref: Orphanet:3189 {source="MONDO:equivalentTo"} -xref: UMLS:C0162164 {source="Orphanet:3189", source="ORDO:3189/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0162164 {source="Orphanet:3189", source="Orphanet:3189/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020287 {source="Orphanet:3189"} ! pulmonary artery or pulmonary branch anomaly [Term] @@ -344993,10 +344833,10 @@ name: subpulmonary stenosis subset: gard_rare {source="GARD:0005051"} subset: ordo_clinical_subtype {source="Orphanet:3190"} xref: GARD:0005051 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q24.3 {source="Orphanet:3190", source="ORDO:3190/e"} +xref: ICD10CM:Q24.3 {source="Orphanet:3190", source="Orphanet:3190/e"} xref: Orphanet:3190 {source="MONDO:equivalentTo"} xref: SCTID:448476001 {source="MONDO:equivalentTo"} -xref: UMLS:C3165028 {source="MONDO:equivalentTo", source="Orphanet:3190", source="ORDO:3190/e"} +xref: UMLS:C3165028 {source="MONDO:equivalentTo", source="Orphanet:3190", source="Orphanet:3190/e"} is_a: MONDO:0017865 {source="Orphanet:3190"} ! congenital pulmonary valve stenosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis xsd:anyURI {source="GARD:0005051"} @@ -345006,7 +344846,7 @@ name: distal 17p13.1 microdeletion syndrome def: "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." [Orphanet:319171] subset: ordo_malformation_syndrome {source="Orphanet:319171"} synonym: "distal del(17)(p13.1)" EXACT [Orphanet:319171] -xref: ICD10CM:Q93.5 {source="Orphanet:319171", source="ORDO:319171/attributed", source="ORDO:319171/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:319171/attributed", source="Orphanet:319171/ntbt", source="Orphanet:319171"} xref: Orphanet:319171 {source="MONDO:equivalentTo"} xref: UMLS:CN203914 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319171", source="indirect"} ! syndromic intellectual disability @@ -345023,7 +344863,7 @@ id: MONDO:0017868 name: diencephalic-mesencephalic junction dysplasia def: "Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." [Orphanet:319192] subset: ordo_morphological_anomaly {source="Orphanet:319192"} -xref: ICD10CM:Q04.8 {source="Orphanet:319192", source="ORDO:319192/attributed", source="ORDO:319192/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:319192", source="Orphanet:319192/attributed", source="Orphanet:319192/ntbt"} xref: Orphanet:319192 {source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:319192"} ! cerebral malformation is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:319192", source="Orphanet:319192/inferred"} ! genetic nervous system disorder @@ -345035,7 +344875,7 @@ id: MONDO:0017869 name: chondroectodermal dysplasia with night blindness def: "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." [Orphanet:319195] subset: ordo_disease {source="Orphanet:319195"} -xref: ICD10CM:Q77.6 {source="Orphanet:319195", source="ORDO:319195/attributed", source="ORDO:319195/ntbt"} +xref: ICD10CM:Q77.6 {source="Orphanet:319195/attributed", source="Orphanet:319195/ntbt", source="Orphanet:319195"} xref: Orphanet:319195 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="Orphanet:319195"} ! eye disorder is_a: MONDO:0018230 {source="Orphanet:319195"} ! primary bone dysplasia @@ -345051,7 +344891,7 @@ subset: gard_rare {source="GARD:0004594"} subset: ordo_clinical_subtype {source="Orphanet:3192"} synonym: "pulmonary supravalvular stenosis" RELATED [GARD:0004594] xref: GARD:0004594 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q25.6 {source="Orphanet:3192", source="ORDO:3192/e"} +xref: ICD10CM:Q25.6 {source="Orphanet:3192", source="Orphanet:3192/e"} xref: Orphanet:3192 {source="MONDO:equivalentTo"} xref: UMLS:C2910138 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0004594"} is_a: MONDO:0017865 {source="Orphanet:3192"} ! congenital pulmonary valve stenosis @@ -345063,7 +344903,7 @@ name: bilateral massive adrenal hemorrhage subset: ordo_etiological_subtype {source="Orphanet:319205"} synonym: "bilateral adrenal hemorrhage" EXACT [Orphanet:319205] synonym: "BMAH" EXACT ABBREVIATION [Orphanet:319205] -xref: ICD10CM:E27.4 {source="ORDO:319205/ntbt", source="Orphanet:319205"} +xref: ICD10CM:E27.4 {source="Orphanet:319205/ntbt", source="Orphanet:319205"} xref: Orphanet:319205 {source="MONDO:equivalentTo"} xref: UMLS:CN203920 {source="MONDO:equivalentTo"} is_a: MONDO:0019801 {source="Orphanet:319205"} ! acute adrenal insufficiency @@ -345075,7 +344915,7 @@ def: "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old W subset: ordo_disease {source="Orphanet:319213"} synonym: "Zambian hemorrhagic fever" EXACT [Orphanet:319213] xref: DOID:0050202 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.8 {source="ORDO:319213/ntbt", source="Orphanet:319213"} +xref: ICD10CM:A96.8 {source="Orphanet:319213", source="Orphanet:319213/ntbt"} xref: Orphanet:319213 {source="MONDO:equivalentTo"} xref: SCTID:716585008 {source="MONDO:equivalentTo"} xref: UMLS:C4274433 {source="MONDO:equivalentTo"} @@ -345098,7 +344938,7 @@ subset: ordo_disease {source="Orphanet:319223"} synonym: "Argentinian hemorrhagic fever" EXACT [Orphanet:319223] synonym: "Junin hemorrhagic fever" EXACT [Orphanet:319223] xref: DOID:0050194 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.0 {source="ORDO:319223/e", source="Orphanet:319223"} +xref: ICD10CM:A96.0 {source="Orphanet:319223/e", source="Orphanet:319223"} xref: Orphanet:319223 {source="MONDO:equivalentTo"} xref: SCTID:58868000 {source="MONDO:equivalentTo"} xref: UMLS:C0019097 {source="MONDO:equivalentTo", source="Orphanet:319223"} @@ -345117,11 +344957,11 @@ def: "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a subset: ordo_disease {source="Orphanet:319229"} synonym: "Machupo hemorrhagic fever" EXACT [Orphanet:319229] xref: DOID:0050195 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.1 {source="Orphanet:319229", source="ORDO:319229/e"} -xref: MedDRA:10005932 {source="Orphanet:319229", source="ORDO:319229/e"} +xref: ICD10CM:A96.1 {source="Orphanet:319229", source="Orphanet:319229/e"} +xref: MedDRA:10005932 {source="Orphanet:319229", source="Orphanet:319229/e"} xref: Orphanet:319229 {source="MONDO:equivalentTo"} xref: SCTID:67247008 {source="MONDO:equivalentTo"} -xref: UMLS:C0282192 {source="Orphanet:319229", source="MONDO:equivalentTo", source="ORDO:319229/e"} +xref: UMLS:C0282192 {source="Orphanet:319229", source="MONDO:equivalentTo", source="Orphanet:319229/e"} is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319229", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: MONDO:0100332 NCBITaxon:11628 ! disease has primary infectious agent Machupo mammarenavirus @@ -345135,10 +344975,10 @@ def: "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a vi subset: ordo_disease {source="Orphanet:319234"} synonym: "Guanarito hemorrhagic fever" EXACT [Orphanet:319234] xref: DOID:0050196 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.8 {source="ORDO:319234/ntbt", source="Orphanet:319234"} +xref: ICD10CM:A96.8 {source="Orphanet:319234/ntbt", source="Orphanet:319234"} xref: Orphanet:319234 {source="MONDO:equivalentTo"} xref: SCTID:359673001 {source="MONDO:equivalentTo"} -xref: UMLS:C0042470 {source="MONDO:equivalentTo", source="ORDO:319234/e", source="Orphanet:319234"} +xref: UMLS:C0042470 {source="Orphanet:319234/e", source="MONDO:equivalentTo", source="Orphanet:319234"} is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319234", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: MONDO:0100332 NCBITaxon:45219 ! disease has primary infectious agent Guanarito mammarenavirus @@ -345153,10 +344993,10 @@ def: "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered subset: ordo_disease {source="Orphanet:319239"} synonym: "Sabia hemorrhagic fever" EXACT [Orphanet:319239] xref: DOID:0050197 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.8 {source="ORDO:319239/ntbt", source="Orphanet:319239"} +xref: ICD10CM:A96.8 {source="Orphanet:319239/ntbt", source="Orphanet:319239"} xref: Orphanet:319239 {source="MONDO:equivalentTo"} xref: SCTID:240524001 {source="MONDO:equivalentTo"} -xref: UMLS:C0343633 {source="MONDO:equivalentTo", source="Orphanet:319239", source="ORDO:319239/e"} +xref: UMLS:C0343633 {source="Orphanet:319239/e", source="MONDO:equivalentTo", source="Orphanet:319239"} is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319239", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: MONDO:0100332 NCBITaxon:2169992 ! disease has primary infectious agent Brazilian mammarenavirus @@ -345168,7 +345008,7 @@ name: Chapare hemorrhagic fever def: "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." [Orphanet:319244] subset: ordo_disease {source="Orphanet:319244"} xref: DOID:0050198 {source="MONDO:equivalentTo"} -xref: ICD10CM:A96.8 {source="ORDO:319244/ntbt", source="Orphanet:319244"} +xref: ICD10CM:A96.8 {source="Orphanet:319244", source="Orphanet:319244/ntbt"} xref: Orphanet:319244 {source="MONDO:equivalentTo"} xref: SCTID:716584007 {source="MONDO:equivalentTo"} xref: UMLS:C4274434 {source="MONDO:equivalentTo"} @@ -345191,15 +345031,15 @@ synonym: "HARDS" RELATED ABBREVIATION [GARD:0000069] xref: DOID:14472 {source="MONDO:equivalentTo", source="EFO:0007296"} xref: EFO:0007296 {source="MONDO:equivalentTo"} xref: GARD:0000069 {source="MONDO:equivalentTo"} -xref: ICD10EXP:B33.4+ {source="ORDO:319247/e", source="Orphanet:319247"} -xref: ICD10EXP:J17.1* {source="ORDO:319247/e", source="Orphanet:319247"} +xref: ICD10EXP:B33.4+ {source="Orphanet:319247/e", source="Orphanet:319247"} +xref: ICD10EXP:J17.1* {source="Orphanet:319247/e", source="Orphanet:319247"} xref: ICD9:480.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10019143 {source="ORDO:319247/e", source="Orphanet:319247"} +xref: MedDRA:10019143 {source="Orphanet:319247/e", source="Orphanet:319247"} xref: MESH:D018804 {source="DOID:14472", source="MONDO:equivalentTo", source="EFO:0007296"} xref: NCIT:C84747 {source="DOID:14472", source="MONDO:equivalentTo"} xref: Orphanet:319247 {source="MONDO:equivalentTo"} xref: SCTID:120639003 {source="DOID:14472", source="MONDO:equivalentTo"} -xref: UMLS:C0243025 {source="GARD:0000069", source="NCIT:C84747", source="DOID:14472", source="MONDO:equivalentTo", source="ORDO:319247/e", source="Orphanet:319247"} +xref: UMLS:C0243025 {source="Orphanet:319247/e", source="GARD:0000069", source="NCIT:C84747", source="DOID:14472", source="MONDO:equivalentTo", source="Orphanet:319247"} is_a: MONDO:0002254 {source="NCIT:C84747"} ! syndromic disease is_a: MONDO:0005780 {source="MESH:D018804", source="MONDO:Redundant", source="NCIT:C84747", source="linkedlifedata"} ! hantavirus infectious disease is_a: MONDO:0018087 {source="Orphanet:319247"} ! viral hemorrhagic fever @@ -345223,14 +345063,14 @@ def: "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is subset: ordo_disease {source="Orphanet:319251"} synonym: "RVF" EXACT ABBREVIATION [NCIT:C128419] xref: DOID:1328 {source="MONDO:equivalentTo"} -xref: ICD10CM:A92.4 {source="Orphanet:319251", source="ORDO:319251/e", source="MONDO:equivalentTo", source="DOID:1328"} -xref: MedDRA:10039143 {source="Orphanet:319251", source="ORDO:319251/e"} +xref: ICD10CM:A92.4 {source="Orphanet:319251", source="MONDO:equivalentTo", source="DOID:1328", source="Orphanet:319251/e"} +xref: MedDRA:10039143 {source="Orphanet:319251", source="Orphanet:319251/e"} xref: MESH:D012295 {source="MONDO:equivalentTo", source="DOID:1328"} xref: NCIT:C128419 {source="MONDO:equivalentTo"} xref: Orphanet:319251 {source="MONDO:equivalentTo"} xref: SCTID:402917003 {source="MONDO:equivalentTo", source="DOID:1328"} xref: SCTID:7077006 {source="DOID:1328"} -xref: UMLS:C0035613 {source="Orphanet:319251", source="ORDO:319251/e", source="MONDO:equivalentTo", source="DOID:1328", source="NCIT:C128419"} +xref: UMLS:C0035613 {source="Orphanet:319251", source="MONDO:equivalentTo", source="DOID:1328", source="Orphanet:319251/e", source="NCIT:C128419"} is_a: MONDO:0018087 {source="MESH:D012295", source="MONDO:Redundant", source="NCIT:C128419", source="Orphanet:319251"} ! viral hemorrhagic fever is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease intersection_of: MONDO:0018087 ! viral hemorrhagic fever @@ -345253,13 +345093,13 @@ synonym: "monkey disease" EXACT [Orphanet:319254] synonym: "monkey fever" EXACT [Orphanet:319254] xref: DOID:11320 {source="MONDO:equivalentTo"} xref: GARD:0008257 {source="MONDO:equivalentTo"} -xref: ICD10CM:A98.2 {source="MONDO:equivalentTo", source="ORDO:319254/e", source="Orphanet:319254", source="DOID:11320"} +xref: ICD10CM:A98.2 {source="MONDO:equivalentTo", source="Orphanet:319254", source="DOID:11320", source="Orphanet:319254/e"} xref: ICD9:065.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11320"} -xref: MedDRA:10023505 {source="ORDO:319254/e", source="Orphanet:319254"} +xref: MedDRA:10023505 {source="Orphanet:319254", source="Orphanet:319254/e"} xref: MESH:D007733 {source="MONDO:equivalentTo", source="DOID:11320"} xref: Orphanet:319254 {source="MONDO:equivalentTo"} xref: SCTID:23097003 {source="MONDO:equivalentTo", source="DOID:11320"} -xref: UMLS:C0022810 {source="MONDO:equivalentTo", source="ORDO:319254/e", source="Orphanet:319254", source="DOID:11320"} +xref: UMLS:C0022810 {source="MONDO:equivalentTo", source="Orphanet:319254", source="DOID:11320", source="Orphanet:319254/e"} is_a: MONDO:0018087 {source="MESH:D007733", source="Orphanet:319254", source="linkedlifedata"} ! viral hemorrhagic fever intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0100332 NCBITaxon:33743 ! disease has primary infectious agent Kyasanur Forest disease virus @@ -345274,13 +345114,13 @@ subset: gard_rare {source="GARD:0008254"} subset: ordo_disease {source="Orphanet:319266"} xref: DOID:992 {source="MONDO:equivalentTo"} xref: GARD:0008254 {source="MONDO:equivalentTo"} -xref: ICD10CM:A98.1 {source="MONDO:equivalentTo", source="Orphanet:319266", source="ORDO:319266/e", source="DOID:992"} +xref: ICD10CM:A98.1 {source="MONDO:equivalentTo", source="Orphanet:319266", source="DOID:992", source="Orphanet:319266/e"} xref: ICD9:065.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:992"} -xref: MedDRA:10030310 {source="Orphanet:319266", source="ORDO:319266/e"} +xref: MedDRA:10030310 {source="Orphanet:319266", source="Orphanet:319266/e"} xref: MESH:D006481 {source="MONDO:equivalentTo", source="DOID:992"} xref: Orphanet:319266 {source="MONDO:equivalentTo"} xref: SCTID:48113006 {source="MONDO:equivalentTo", source="DOID:992"} -xref: UMLS:C0019103 {source="MONDO:equivalentTo", source="Orphanet:319266", source="ORDO:319266/e", source="DOID:992"} +xref: UMLS:C0019103 {source="MONDO:equivalentTo", source="Orphanet:319266", source="DOID:992", source="Orphanet:319266/e"} is_a: MONDO:0018087 {source="MESH:D006481", source="MONDO:Redundant", source="Orphanet:319266", source="linkedlifedata"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: MONDO:0100332 NCBITaxon:12542 ! disease has primary infectious agent Omsk hemorrhagic fever virus @@ -345326,12 +345166,12 @@ xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"} xref: EFO:0000640 {source="MONDO:equivalentTo"} xref: GARD:0009572 {source="MONDO:equivalentObsolete"} xref: GARD:0009575 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="ORDO:47044/attributed", source="ORDO:47044/ntbt", source="ORDO:319298/ntbt", source="Orphanet:47044", source="Orphanet:319298"} -xref: MESH:C538614 {source="DOID:4465", source="ORDO:47044/e", source="Orphanet:47044"} +xref: ICD10CM:C64 {source="Orphanet:47044", source="Orphanet:319298", source="Orphanet:319298/ntbt", source="Orphanet:47044/attributed", source="Orphanet:47044/ntbt"} +xref: MESH:C538614 {source="DOID:4465", source="Orphanet:47044", source="Orphanet:47044/e"} xref: MESH:D002292 {source="MONDO:subClassOf", source="DOID:4465"} xref: NCIT:C27890 {source="DOID:4465"} xref: NCIT:C6975 {source="DOID:4465", source="EFO:0000640", source="MONDO:equivalentTo"} -xref: OMIM:605074 {source="DOID:4465", source="EFO:0000640", source="MONDO:superClassOf", source="ORDO:47044/e", source="Orphanet:47044"} +xref: OMIM:605074 {source="DOID:4465", source="EFO:0000640", source="MONDO:superClassOf", source="Orphanet:47044", source="Orphanet:47044/e"} xref: ONCOTREE:PRCC {source="MONDO:equivalentTo"} xref: Orphanet:319298 {source="MONDO:equivalentTo"} xref: Orphanet:47044 {source="MONDO:superClassOf", source="OMIM:605074"} @@ -345339,10 +345179,10 @@ xref: SCTID:4797003 {source="DOID:4465"} xref: SCTID:733608000 {source="MONDO:equivalentTo"} xref: UMLS:C0007134 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0879257 {source="MONDO:superClassOf", source="Orphanet:47044"} -xref: UMLS:C1306837 {source="DOID:4465", source="MONDO:equivalentTo", source="ORDO:319298/e", source="NCIT:C6975", source="Orphanet:319298"} +xref: UMLS:C1306837 {source="DOID:4465", source="MONDO:equivalentTo", source="NCIT:C6975", source="Orphanet:319298", source="Orphanet:319298/e"} xref: UMLS:C1336078 {source="DOID:4465", source="MONDO:equivalentTo"} xref: UMLS:C1336839 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:605074"} -xref: UMLS:C2931899 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:47044/e", source="Orphanet:47044"} +xref: UMLS:C2931899 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:47044", source="Orphanet:47044/e"} xref: UMLS:CN205129 {source="MONDO:equivalentTo"} is_a: MONDO:0002512 {source="NCIT:C6975"} ! papillary adenocarcinoma is_a: MONDO:0005086 {source="DC-OMIM:605074", source="DOID:4465", source="EFO:0000640", source="MONDO:0017884/inferred", source="MONDO:Redundant", source="ONCOTREE:PRCC/inferred", source="Orphanet:319298", source="indirect"} ! renal cell carcinoma @@ -345376,7 +345216,7 @@ synonym: "renal cell carcinoma, chromophobe type" EXACT [NCIT:C4146] xref: DOID:4471 {source="MONDO:equivalentTo", source="EFO:0000335"} xref: EFO:0000335 {source="MONDO:equivalentTo"} xref: GARD:0006064 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="Orphanet:319303", source="ORDO:319303/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:319303/ntbt", source="Orphanet:319303"} xref: ICDO:8270/3 {source="NCIT:C4146"} xref: ICDO:8317/3 {source="NCIT:C4146"} xref: MESH:D002292 {source="MONDO:subClassOf", source="DOID:4471"} @@ -345386,7 +345226,7 @@ xref: Orphanet:319303 {source="MONDO:equivalentTo"} xref: SCTID:128667008 {source="DOID:4471"} xref: SCTID:1443001 {source="EFO:0000335"} xref: SCTID:733471003 {source="MONDO:equivalentTo"} -xref: UMLS:C1266042 {source="MONDO:equivalentTo", source="NCIT:C4146", source="DOID:4471", source="Orphanet:319303", source="ORDO:319303/e"} +xref: UMLS:C1266042 {source="Orphanet:319303/e", source="MONDO:equivalentTo", source="NCIT:C4146", source="DOID:4471", source="Orphanet:319303"} xref: UMLS:C3887514 {source="MONDO:equivalentTo"} is_a: MONDO:0005086 {source="DOID:4471", source="EFO:0000335", source="MONDO:0017885/inferred", source="MONDO:Redundant", source="ONCOTREE:CHRCC/inferred", source="Orphanet:319303", source="indirect"} ! renal cell carcinoma is_a: MONDO:0005549 {source="NCIT:C4146"} ! renal cell adenocarcinoma @@ -345400,8 +345240,8 @@ def: "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of subset: ordo_disease {source="Orphanet:319308"} synonym: "carcinoma associated with MITF/TFE translocation" EXACT [Orphanet:319308] synonym: "translocation renal cell carcinoma" EXACT [Orphanet:319308] -xref: ICD10CM:C64 {source="Orphanet:319308", source="ORDO:319308/ntbt"} -xref: OMIM:300854 {source="Orphanet:319308", source="MONDO:superClassOf", source="ORDO:319308/btnt"} +xref: ICD10CM:C64 {source="Orphanet:319308/ntbt", source="Orphanet:319308"} +xref: OMIM:300854 {source="Orphanet:319308/btnt", source="Orphanet:319308", source="MONDO:superClassOf"} xref: Orphanet:319308 {source="MONDO:equivalentTo"} xref: SCTID:764694005 {source="MONDO:equivalentTo"} xref: UMLS:C4518356 {source="MONDO:equivalentTo"} @@ -345415,7 +345255,7 @@ subset: ordo_histopathological_subtype {source="Orphanet:319314"} synonym: "renal cell cancer associated with neuroblastoma" EXACT [NCIT:C100051] synonym: "renal cell carcinoma after neuroblastoma" EXACT [Orphanet:319314] synonym: "renal cell carcinoma associated with neuroblastoma" EXACT [NCIT:C100051] -xref: ICD10CM:C64 {source="Orphanet:319314", source="ORDO:319314/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:319314/ntbt", source="Orphanet:319314"} xref: NCIT:C100051 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:319314 {source="MONDO:equivalentTo"} xref: UMLS:C3272295 {source="NCIT:C100051", source="MONDO:equivalentTo"} @@ -345434,7 +345274,7 @@ name: tubulocystic renal cell carcinoma def: "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." [Orphanet:319325] subset: ordo_disease {source="Orphanet:319325"} synonym: "Tubulocystic renal cell cancer" EXACT [NCIT:C126303] -xref: ICD10CM:C64 {source="Orphanet:319325", source="ORDO:319325/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:319325/ntbt", source="Orphanet:319325"} xref: NCIT:C126303 {source="MONDO:equivalentTo"} xref: Orphanet:319325 {source="MONDO:equivalentTo"} xref: SCTID:733603009 {source="MONDO:equivalentTo"} @@ -345461,7 +345301,7 @@ subset: ordo_disease {source="Orphanet:319332"} synonym: "autosomal recessive myogenic AMC" EXACT [Orphanet:319332] synonym: "SYNE1-related AMC" EXACT [Orphanet:319332] synonym: "SYNE1-related arthrogryposis multiplex congenita" EXACT [Orphanet:319332] -xref: ICD10CM:Q74.3 {source="ORDO:319332/attributed", source="ORDO:319332/ntbt", source="Orphanet:319332"} +xref: ICD10CM:Q74.3 {source="Orphanet:319332", source="Orphanet:319332/attributed", source="Orphanet:319332/ntbt"} xref: Orphanet:319332 {source="MONDO:equivalentTo"} xref: SCTID:764812008 {source="MONDO:equivalentTo"} xref: UMLS:CN203942 {source="MONDO:equivalentTo"} @@ -345478,7 +345318,7 @@ synonym: "hereditary acute myeloid leukemia" EXACT [MONDO:patterns/hereditary] synonym: "inherited AML" EXACT [Orphanet:319465] synonym: "Pure familial acute myeloid leukemia" EXACT [Orphanet:319465] synonym: "Pure familial AML" EXACT [Orphanet:319465] -xref: ICD10CM:C92.0 {source="ORDO:319465/attributed", source="ORDO:319465/ntbt", source="Orphanet:319465"} +xref: ICD10CM:C92.0 {source="Orphanet:319465/attributed", source="Orphanet:319465/ntbt", source="Orphanet:319465"} xref: OMIM:601626 {source="MONDO:subClassOf", source="Orphanet:319465"} xref: Orphanet:319465 {source="MONDO:equivalentTo"} xref: SCTID:764940002 {source="MONDO:equivalentTo"} @@ -345500,7 +345340,7 @@ synonym: "acute myeloid Leukemia with non-germline mutated CEBPA" EXACT [NCIT:C8 synonym: "AML with CEBPA somatic mutations" EXACT [Orphanet:319480] synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433] synonym: "non-familial acute myeloid leukemia with mutated CEBPA" EXACT [NCIT:C82433] -xref: ICD10CM:C92.0 {source="Orphanet:319480", source="ORDO:319480/attributed", source="ORDO:319480/ntbt"} +xref: ICD10CM:C92.0 {source="Orphanet:319480", source="Orphanet:319480/attributed", source="Orphanet:319480/ntbt"} xref: NCIT:C82433 {source="MONDO:equivalentTo"} xref: OMIM:601626 {source="MONDO:subClassOf", source="Orphanet:319480"} xref: Orphanet:319480 {source="MONDO:equivalentTo"} @@ -345516,15 +345356,15 @@ subset: ordo_disease {source="Orphanet:319487"} synonym: "familial nonmedullary thyroid gland carcinoma" EXACT [NCIT:C118829] synonym: "familial pure nonmedullary thyroid carcinoma" EXACT [Orphanet:319487] synonym: "FNMTC" EXACT ABBREVIATION [NCIT:C118829, Orphanet:319487] -xref: ICD10CM:C73 {source="ORDO:319487/attributed", source="ORDO:319487/ntbt", source="Orphanet:319487"} +xref: ICD10CM:C73 {source="Orphanet:319487/attributed", source="Orphanet:319487/ntbt", source="Orphanet:319487"} xref: NCIT:C118829 {source="MONDO:equivalentTo"} -xref: OMIM:188470 {source="ORDO:319487/btnt", source="MONDO:superClassOf", source="Orphanet:319487"} -xref: OMIM:188550 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:319487/ntbt", source="Orphanet:319487"} -xref: OMIM:603386 {source="ORDO:319487/btnt", source="MONDO:superClassOf", source="Orphanet:319487"} -xref: OMIM:603744 {source="ORDO:319487/btnt", source="MONDO:superClassOf", source="Orphanet:319487"} -xref: OMIM:606240 {source="ORDO:319487/btnt", source="MONDO:superClassOf", source="Orphanet:319487"} -xref: OMIM:616534 {source="ORDO:319487/btnt", source="MONDO:superClassOf", source="Orphanet:319487"} -xref: OMIM:616535 {source="ORDO:319487/btnt", source="MONDO:superClassOf", source="Orphanet:319487"} +xref: OMIM:188470 {source="MONDO:superClassOf", source="Orphanet:319487/btnt", source="Orphanet:319487"} +xref: OMIM:188550 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:319487/ntbt", source="Orphanet:319487"} +xref: OMIM:603386 {source="MONDO:superClassOf", source="Orphanet:319487/btnt", source="Orphanet:319487"} +xref: OMIM:603744 {source="MONDO:superClassOf", source="Orphanet:319487/btnt", source="Orphanet:319487"} +xref: OMIM:606240 {source="MONDO:superClassOf", source="Orphanet:319487/btnt", source="Orphanet:319487"} +xref: OMIM:616534 {source="MONDO:superClassOf", source="Orphanet:319487/btnt", source="Orphanet:319487"} +xref: OMIM:616535 {source="MONDO:superClassOf", source="Orphanet:319487/btnt", source="Orphanet:319487"} xref: Orphanet:319487 {source="MONDO:equivalentTo"} xref: UMLS:C3896673 {source="MONDO:equivalentTo", source="NCIT:C118829"} xref: UMLS:CN227215 {source="MONDO:equivalentTo"} @@ -345540,7 +345380,7 @@ comment: Note the OMIM phenotypic series lacks a member classified by ORDO subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:319494"} synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201] -xref: ICD10CM:C73 {source="ORDO:319494/attributed", source="ORDO:319494/ntbt", source="Orphanet:319494"} +xref: ICD10CM:C73 {source="Orphanet:319494", source="Orphanet:319494/attributed", source="Orphanet:319494/ntbt"} xref: OMIMPS:188550 {source="MONDO:equivalentTo"} xref: Orphanet:319494 {source="MONDO:equivalentTo"} xref: UMLS:C3501843 {source="MONDO:equivalentTo"} @@ -345559,7 +345399,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:319535"} synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [Orphanet:319535] synonym: "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:D84.8 {source="ORDO:319535/attributed", source="ORDO:319535/ntbt", source="Orphanet:319535"} +xref: ICD10CM:D84.8 {source="Orphanet:319535/attributed", source="Orphanet:319535/ntbt", source="Orphanet:319535"} xref: Orphanet:319535 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203953 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -345575,7 +345415,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:319539"} synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [Orphanet:319539] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:D84.8 {source="Orphanet:319539", source="ORDO:319539/attributed", source="ORDO:319539/ntbt"} +xref: ICD10CM:D84.8 {source="Orphanet:319539/attributed", source="Orphanet:319539/ntbt", source="Orphanet:319539"} xref: Orphanet:319539 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203954 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -345591,7 +345431,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:319543"} synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [Orphanet:319543] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:D84.8 {source="ORDO:319543/attributed", source="ORDO:319543/ntbt", source="Orphanet:319543"} +xref: ICD10CM:D84.8 {source="Orphanet:319543", source="Orphanet:319543/attributed", source="Orphanet:319543/ntbt"} xref: Orphanet:319543 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203955 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -345610,11 +345450,11 @@ synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial d synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547] synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [Orphanet:319547] synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547] -xref: ICD10CM:D84.8 {source="ORDO:319547/attributed", source="ORDO:319547/ntbt", source="Orphanet:319547"} -xref: OMIM:614889 {source="MONDO:subClassOf", source="ORDO:319547/ntbt", source="Orphanet:319547"} +xref: ICD10CM:D84.8 {source="Orphanet:319547/attributed", source="Orphanet:319547/ntbt", source="Orphanet:319547"} +xref: OMIM:614889 {source="MONDO:subClassOf", source="Orphanet:319547/ntbt", source="Orphanet:319547"} xref: Orphanet:319547 {source="MONDO:equivalentTo"} xref: UMLS:CN203956 {source="MONDO:equivalentTo"} -is_a: MONDO:0013953 {source="ORDO:319547/ntbt"} ! immunodeficiency 28 +is_a: MONDO:0013953 {source="Orphanet:319547/ntbt"} ! immunodeficiency 28 is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases [Term] @@ -345628,8 +345468,8 @@ synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319569] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569] synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -xref: ICD10CM:D84.8 {source="ORDO:319569/attributed", source="ORDO:319569/ntbt", source="Orphanet:319569"} -xref: OMIM:209950 {source="MONDO:subClassOf", source="ORDO:319569/ntbt", source="Orphanet:319569"} +xref: ICD10CM:D84.8 {source="Orphanet:319569/attributed", source="Orphanet:319569/ntbt", source="Orphanet:319569"} +xref: OMIM:209950 {source="MONDO:subClassOf", source="Orphanet:319569/ntbt", source="Orphanet:319569"} xref: Orphanet:319569 {source="MONDO:equivalentTo"} xref: UMLS:CN203960 {source="MONDO:equivalentTo"} is_a: MONDO:0008856 ! immunodeficiency 27A @@ -345648,11 +345488,11 @@ synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases synonym: "autosomal recessive MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319574] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574] synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -xref: ICD10CM:D84.8 {source="ORDO:319574/attributed", source="ORDO:319574/ntbt", source="Orphanet:319574"} -xref: OMIM:614889 {source="MONDO:subClassOf", source="ORDO:319574/ntbt", source="Orphanet:319574"} +xref: ICD10CM:D84.8 {source="Orphanet:319574", source="Orphanet:319574/attributed", source="Orphanet:319574/ntbt"} +xref: OMIM:614889 {source="MONDO:subClassOf", source="Orphanet:319574", source="Orphanet:319574/ntbt"} xref: Orphanet:319574 {source="MONDO:equivalentTo"} xref: UMLS:CN203961 {source="MONDO:equivalentTo"} -is_a: MONDO:0013953 {source="ORDO:319547/ntbt"} ! immunodeficiency 28 +is_a: MONDO:0013953 {source="Orphanet:319547/ntbt"} ! immunodeficiency 28 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5440 {source="Orphanet:319574"} ! IFNGR2 property_value: confidence "6.435897435897435" xsd:double @@ -345667,7 +345507,7 @@ synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases synonym: "autosomal dominant MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319589] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589] synonym: "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -xref: ICD10CM:D84.8 {source="Orphanet:319589", source="ORDO:319589/attributed", source="ORDO:319589/ntbt"} +xref: ICD10CM:D84.8 {source="Orphanet:319589/attributed", source="Orphanet:319589/ntbt", source="Orphanet:319589"} xref: Orphanet:319589 {source="MONDO:equivalentTo"} xref: UMLS:CN203963 {source="MONDO:equivalentTo"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases @@ -345682,7 +345522,7 @@ synonym: "Lyngstadaas syndrome" EXACT [Orphanet:3196] synonym: "severe dental aberrations in familial steroid dehydrogenase deficiency" RELATED [GARD:0005015] synonym: "steroid dehydrogenase deficiency dental anomalies" RELATED [GARD:0005015] xref: GARD:0005015 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:K76.8 {source="Orphanet:3196", source="ORDO:3196/attributed", source="ORDO:3196/ntbt"} +xref: ICD10CM:K76.8 {source="Orphanet:3196/attributed", source="Orphanet:3196/ntbt", source="Orphanet:3196"} xref: MESH:C537490 {source="MONDO:equivalentTo"} xref: Orphanet:3196 {source="MONDO:equivalentTo"} xref: SCTID:723583009 {source="MONDO:equivalentTo"} @@ -345699,9 +345539,9 @@ subset: ordo_disease {source="Orphanet:319605"} subset: predisposition synonym: "mendelian susceptibility to mycobacterial diseases, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked MSMD" EXACT [Orphanet:319605] -xref: ICD10CM:D84.8 {source="Orphanet:319605", source="ORDO:319605/attributed", source="ORDO:319605/ntbt"} -xref: OMIM:300636 {source="Orphanet:319605", source="MONDO:superClassOf", source="ORDO:319605/btnt"} -xref: OMIM:300645 {source="Orphanet:319605", source="MONDO:superClassOf", source="ORDO:319605/btnt"} +xref: ICD10CM:D84.8 {source="Orphanet:319605/attributed", source="Orphanet:319605/ntbt", source="Orphanet:319605"} +xref: OMIM:300636 {source="Orphanet:319605/btnt", source="Orphanet:319605", source="MONDO:superClassOf"} +xref: OMIM:300645 {source="Orphanet:319605/btnt", source="Orphanet:319605", source="MONDO:superClassOf"} xref: Orphanet:319605 {source="MONDO:equivalentTo"} xref: SCTID:719814009 {source="MONDO:equivalentTo"} xref: UMLS:C4304413 {source="MONDO:equivalentTo"} @@ -345716,8 +345556,8 @@ name: amyloidosis cutis dyschromia def: "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." [Orphanet:319635] subset: ordo_disease {source="Orphanet:319635"} synonym: "amyloidosis cutis dyschromica" EXACT [Orphanet:319635] -xref: ICD10EXP:E85.4+ {source="ORDO:319635/ntbt", source="Orphanet:319635"} -xref: ICD10EXP:L99.0* {source="ORDO:319635/ntbt", source="Orphanet:319635"} +xref: ICD10EXP:E85.4+ {source="Orphanet:319635/ntbt", source="Orphanet:319635"} +xref: ICD10EXP:L99.0* {source="Orphanet:319635/ntbt", source="Orphanet:319635"} xref: Orphanet:319635 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="Orphanet:319635"} ! primary cutaneous amyloidosis @@ -345760,15 +345600,15 @@ synonym: "pyroglutamic aciduria" EXACT [NCIT:C128193] synonym: "pyroglutamicaciduria" EXACT [Orphanet:32] synonym: "rare inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:0010047 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D55.1 {source="Orphanet:32", source="ORDO:32/attributed", source="ORDO:32/ntbt"} -xref: MESH:C536835 {source="Orphanet:32", source="ORDO:32/e", source="MONDO:equivalentTo"} +xref: ICD10CM:D55.1 {source="Orphanet:32", source="Orphanet:32/attributed", source="Orphanet:32/ntbt"} +xref: MESH:C536835 {source="Orphanet:32", source="MONDO:equivalentTo", source="Orphanet:32/e"} xref: NCIT:C128193 {source="MONDO:equivalentTo"} -xref: OMIM:231900 {source="Orphanet:32", source="MONDO:superClassOf", source="ORDO:32/btnt"} -xref: OMIM:266130 {source="Orphanet:32", source="MONDO:superClassOf", source="ORDO:32/btnt"} +xref: OMIM:231900 {source="Orphanet:32", source="Orphanet:32/btnt", source="MONDO:superClassOf"} +xref: OMIM:266130 {source="Orphanet:32", source="Orphanet:32/btnt", source="MONDO:superClassOf"} xref: Orphanet:32 {source="MONDO:equivalentTo"} xref: SCTID:234589002 {source="MONDO:equivalentTo"} -xref: UMLS:C0398746 {source="Orphanet:32", source="ORDO:32/e", source="MONDO:equivalentTo", source="NCIT:C128193"} -xref: UMLS:C1291643 {source="Orphanet:32", source="ORDO:32/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0398746 {source="Orphanet:32", source="MONDO:equivalentTo", source="Orphanet:32/e", source="NCIT:C128193"} +xref: UMLS:C1291643 {source="Orphanet:32", source="Orphanet:32/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019052 {source="MESH:C536835/inferred", source="MONDO:Redundant", source="NCIT:C128193", source="Orphanet:32/inferred"} ! inborn errors of metabolism is_a: MONDO:0019241 {source="Orphanet:32", source="indirect"} ! inborn disorder of the gamma-glutamyl cycle is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment @@ -345786,9 +345626,9 @@ synonym: "hereditary xerocytosis" EXACT [GARD:0005623, Orphanet:3202] synonym: "xerocytosis hereditary" RELATED [GARD:0005623] xref: DOID:0111575 {source="MONDO:equivalentTo"} xref: GARD:0005623 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.8 {source="Orphanet:3202", source="ORDO:3202/attributed", source="ORDO:3202/ntbt"} -xref: OMIM:194380 {source="GARD:0005623", source="Orphanet:3202", source="MONDO:superClassOf", source="ORDO:3202/btnt"} -xref: OMIM:616689 {source="Orphanet:3202", source="MONDO:superClassOf", source="ORDO:3202/btnt"} +xref: ICD10CM:D58.8 {source="Orphanet:3202", source="Orphanet:3202/attributed", source="Orphanet:3202/ntbt"} +xref: OMIM:194380 {source="GARD:0005623", source="Orphanet:3202", source="Orphanet:3202/btnt", source="MONDO:superClassOf"} +xref: OMIM:616689 {source="Orphanet:3202", source="Orphanet:3202/btnt", source="MONDO:superClassOf"} xref: Orphanet:3202 {source="GARD:0005623", source="MONDO:equivalentTo"} xref: SCTID:715526002 {source="MONDO:equivalentTo"} xref: UMLS:C0272051 {source="GARD:0005623", source="Orphanet:3202", source="MONDO:notFoundInDiseaseSubset"} @@ -345805,7 +345645,7 @@ id: MONDO:0017912 name: X-linked pure spastic paraplegia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:320332"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320332", source="ORDO:320332/attributed", source="ORDO:320332/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320332", source="Orphanet:320332/attributed", source="Orphanet:320332/ntbt"} xref: Orphanet:320332 {source="MONDO:equivalentTo"} is_a: MONDO:0015149 {source="Orphanet:320332"} ! pure hereditary spastic paraplegia @@ -345817,7 +345657,7 @@ subset: ordo_group_of_disorders {source="Orphanet:320335"} synonym: "Pure or complex familial spastic paraplegia" EXACT [Orphanet:320335] synonym: "Pure or complicated familial spastic paraplegia" EXACT [Orphanet:320335] synonym: "Pure or complicated hereditary spastic paraplegia" EXACT [Orphanet:320335] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320335/attributed", source="ORDO:320335/ntbt", source="Orphanet:320335"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320335", source="Orphanet:320335/attributed", source="Orphanet:320335/ntbt"} xref: Orphanet:320335 {source="MONDO:equivalentTo"} xref: UMLS:CN227219 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="Orphanet:320335"} ! hereditary spastic paraplegia @@ -345828,7 +345668,7 @@ name: pure or complex autosomal dominant spastic paraplegia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:320342"} synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320342", source="ORDO:320342/attributed", source="ORDO:320342/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320342/attributed", source="Orphanet:320342/ntbt", source="Orphanet:320342"} xref: Orphanet:320342 {source="MONDO:equivalentTo"} is_a: MONDO:0017913 {source="Orphanet:320342"} ! pure or complex hereditary spastic paraplegia @@ -345838,7 +345678,7 @@ name: pure or complex autosomal recessive spastic paraplegia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:320346"} synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320346/attributed", source="ORDO:320346/ntbt", source="Orphanet:320346"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320346", source="Orphanet:320346/attributed", source="Orphanet:320346/ntbt"} xref: Orphanet:320346 {source="MONDO:equivalentTo"} is_a: MONDO:0017913 {source="Orphanet:320346"} ! pure or complex hereditary spastic paraplegia @@ -345848,7 +345688,7 @@ name: pure or complex X-linked spastic paraplegia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:320350"} synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320350/attributed", source="ORDO:320350/ntbt", source="Orphanet:320350"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320350/attributed", source="Orphanet:320350/ntbt", source="Orphanet:320350"} xref: Orphanet:320350 {source="MONDO:equivalentTo"} is_a: MONDO:0017913 {source="Orphanet:320350"} ! pure or complex hereditary spastic paraplegia @@ -345859,7 +345699,7 @@ def: "A rare, genetic, complex hereditary spastic paraplegia disorder characteri subset: ordo_disease {source="Orphanet:320360"} synonym: "maternally-inherited SPG" EXACT [Orphanet:320360] synonym: "MT-ATP6-related mitochondrial spastic paraplegia" EXACT [https://orcid.org/0000-0001-6330-7526, Orphanet:320360] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:320360/attributed", source="ORDO:320360/ntbt", source="Orphanet:320360"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:320360/attributed", source="Orphanet:320360/ntbt", source="Orphanet:320360"} xref: Orphanet:320360 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="Orphanet:320360"} ! complex hereditary spastic paraplegia @@ -345892,10 +345732,10 @@ synonym: "OEIS complex" EXACT [https://github.com/monarch-initiative/mondo/issue synonym: "OEIS syndrome" EXACT [NCIT:C99142] xref: DOID:0080173 {source="MONDO:equivalentTo"} xref: GARD:0002207 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q64.1 {source="ORDO:322/attributed", source="ORDO:322/ntbt", source="Orphanet:322"} +xref: ICD10CM:Q64.1 {source="Orphanet:322/attributed", source="Orphanet:322/ntbt", source="Orphanet:322"} xref: NCIT:C99142 {source="MONDO:equivalentTo"} -xref: OMIM:258040 {source="DOID:0080173", source="MONDO:equivalentTo", source="ORDO:322/btnt", source="Orphanet:322"} -xref: OMIM:600057 {source="MONDO:superClassOf", source="ORDO:322/e", source="Orphanet:322"} +xref: OMIM:258040 {source="DOID:0080173", source="MONDO:equivalentTo", source="Orphanet:322/btnt", source="Orphanet:322"} +xref: OMIM:600057 {source="Orphanet:322/e", source="MONDO:superClassOf", source="Orphanet:322"} xref: Orphanet:322 {source="DOID:0080173", source="MONDO:equivalentTo"} xref: UMLS:C1838703 {source="Orphanet:322"} xref: UMLS:C1850321 {source="MONDO:equivalentTo"} @@ -345921,7 +345761,7 @@ synonym: "sensorineural deafness, hypospadias, and synostosis of metacarpals and synonym: "short stature, intellectual disability and multiple dysmorphisms" RELATED [GARD:0004303] synonym: "short stature, mental retardation and multiple dysmorphisms" RELATED DEPRECATED [GARD:0004303] xref: GARD:0004303 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3224", source="ORDO:3224/attributed", source="ORDO:3224/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3224", source="Orphanet:3224/attributed", source="Orphanet:3224/ntbt"} xref: MESH:C537887 {source="MONDO:equivalentTo"} xref: Orphanet:3224 {source="MONDO:equivalentTo"} xref: SCTID:721086004 {source="MONDO:equivalentTo"} @@ -345954,9 +345794,9 @@ name: deafness-onychodystrophy syndrome def: "Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." [Orphanet:3231] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:3231"} -xref: ICD10CM:Q87.8 {source="ORDO:3231/attributed", source="ORDO:3231/ntbt", source="Orphanet:3231"} -xref: OMIM:124480 {source="MONDO:superClassOf", source="ORDO:3231/btnt", source="Orphanet:3231"} -xref: OMIM:220500 {source="MONDO:superClassOf", source="ORDO:3231/btnt", source="Orphanet:3231"} +xref: ICD10CM:Q87.8 {source="Orphanet:3231/attributed", source="Orphanet:3231/ntbt", source="Orphanet:3231"} +xref: OMIM:124480 {source="MONDO:superClassOf", source="Orphanet:3231/btnt", source="Orphanet:3231"} +xref: OMIM:220500 {source="MONDO:superClassOf", source="Orphanet:3231/btnt", source="Orphanet:3231"} xref: Orphanet:3231 {source="MONDO:equivalentTo"} xref: UMLS:CN204041 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:3231"} ! syndromic intellectual disability @@ -345975,14 +345815,14 @@ synonym: "facio-audio-symphalangism" EXACT [Orphanet:3237] synonym: "symphalangism-brachydactyly syndrome" EXACT [Orphanet:3237] synonym: "WL syndrome" EXACT [Orphanet:3237] xref: DOID:0050794 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="Orphanet:3237", source="ORDO:3237/attributed", source="ORDO:3237/ntbt"} -xref: OMIM:186500 {source="DOID:0050794", source="Orphanet:3237", source="ORDO:3237/btnt", source="MONDO:superClassOf"} -xref: OMIM:610017 {source="DOID:0050794", source="Orphanet:3237", source="ORDO:3237/btnt", source="MONDO:superClassOf"} -xref: OMIM:612961 {source="DOID:0050794", source="Orphanet:3237", source="ORDO:3237/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q78.8 {source="Orphanet:3237/attributed", source="Orphanet:3237/ntbt", source="Orphanet:3237"} +xref: OMIM:186500 {source="Orphanet:3237/btnt", source="DOID:0050794", source="Orphanet:3237", source="MONDO:superClassOf"} +xref: OMIM:610017 {source="Orphanet:3237/btnt", source="DOID:0050794", source="Orphanet:3237", source="MONDO:superClassOf"} +xref: OMIM:612961 {source="Orphanet:3237/btnt", source="DOID:0050794", source="Orphanet:3237", source="MONDO:superClassOf"} xref: OMIMPS:186500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="MONDO:equivalentTo"} -xref: UMLS:C0175700 {source="MONDO:relatedTo", source="Orphanet:3237", source="ORDO:3237/e"} -xref: UMLS:C0342282 {source="Orphanet:3237", source="ORDO:3237/e", source="MONDO:superClassOf"} +xref: UMLS:C0175700 {source="MONDO:relatedTo", source="Orphanet:3237", source="Orphanet:3237/e"} +xref: UMLS:C0342282 {source="Orphanet:3237", source="MONDO:superClassOf", source="Orphanet:3237/e"} xref: UMLS:CN204052 {source="MONDO:equivalentTo"} is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation @@ -346008,7 +345848,7 @@ name: T-cell immunodeficiency with epidermodysplasia verruciformis def: "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." [Orphanet:324294] subset: ordo_disease {source="Orphanet:324294"} synonym: "T-cell immunodeficiency due to RHOH deficiency" EXACT [Orphanet:324294] -xref: ICD10CM:D84.8 {source="ORDO:324294/attributed", source="ORDO:324294/ntbt", source="Orphanet:324294"} +xref: ICD10CM:D84.8 {source="Orphanet:324294/attributed", source="Orphanet:324294/ntbt", source="Orphanet:324294"} xref: Orphanet:324294 {source="MONDO:equivalentTo"} xref: UMLS:CN714013 {source="MONDO:equivalentTo"} is_a: MONDO:0015135 {source="MONDO:0018033-obsoleted"} ! primary immunodeficiency due to a genetic defect in innate immunity @@ -346028,7 +345868,7 @@ id: MONDO:0017927 name: severe lateral tibial bowing with short stature def: "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." [Orphanet:324307] subset: ordo_disease {source="Orphanet:324307"} -xref: ICD10CM:Q68.4 {source="ORDO:324307/attributed", source="ORDO:324307/ntbt", source="Orphanet:324307"} +xref: ICD10CM:Q68.4 {source="Orphanet:324307", source="Orphanet:324307/attributed", source="Orphanet:324307/ntbt"} xref: Orphanet:324307 {source="MONDO:equivalentTo"} xref: SCTID:766819001 {source="MONDO:equivalentTo"} xref: UMLS:CN204066 {source="MONDO:equivalentTo"} @@ -346041,7 +345881,7 @@ def: "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, result subset: ordo_malformation_syndrome {source="Orphanet:324313"} synonym: "Del(9)(p13)" EXACT [Orphanet:324313] synonym: "monosomy 9p13" EXACT [Orphanet:324313] -xref: ICD10CM:Q93.5 {source="Orphanet:324313", source="ORDO:324313/attributed", source="ORDO:324313/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:324313/attributed", source="Orphanet:324313/ntbt", source="Orphanet:324313"} xref: Orphanet:324313 {source="MONDO:equivalentTo"} xref: SCTID:764725008 {source="MONDO:equivalentTo"} xref: UMLS:CN204067 {source="MONDO:equivalentTo"} @@ -346057,7 +345897,7 @@ id: MONDO:0017929 name: congenital achiasma def: "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." [Orphanet:324353] subset: ordo_morphological_anomaly {source="Orphanet:324353"} -xref: ICD10CM:H47.4 {source="MONDO:relatedTo", source="ORDO:324353/attributed", source="ORDO:324353/ntbt", source="Orphanet:324353"} +xref: ICD10CM:H47.4 {source="MONDO:relatedTo", source="Orphanet:324353/attributed", source="Orphanet:324353/ntbt", source="Orphanet:324353"} xref: Orphanet:324353 {source="MONDO:equivalentTo"} xref: SCTID:734031008 {source="MONDO:equivalentTo"} is_a: MONDO:0020132 {source="Orphanet:324353"} ! cranial nerve and nuclear aplasia @@ -346068,7 +345908,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017930 name: mixed sclerosing bone dystrophy with extra-skeletal manifestations subset: ordo_disease {source="Orphanet:324364"} -xref: ICD10CM:M85.8 {source="ORDO:324364/attributed", source="ORDO:324364/ntbt", source="Orphanet:324364"} +xref: ICD10CM:M85.8 {source="Orphanet:324364/attributed", source="Orphanet:324364/ntbt", source="Orphanet:324364"} xref: Orphanet:324364 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:324364"} ! bone disorder relationship: disease_has_feature HP:0011001 {source="Orphanet:324364"} ! Increased bone mineral density @@ -346080,7 +345920,7 @@ name: hereditary inclusion body myopathy type 4 def: "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." [Orphanet:324381] subset: ordo_disease {source="Orphanet:324381"} synonym: "HIBM4" EXACT ABBREVIATION [Orphanet:324381] -xref: ICD10CM:G71.8 {source="ORDO:324381/attributed", source="ORDO:324381/ntbt", source="Orphanet:324381"} +xref: ICD10CM:G71.8 {source="Orphanet:324381", source="Orphanet:324381/attributed", source="Orphanet:324381/ntbt"} xref: Orphanet:324381 {source="MONDO:equivalentTo"} xref: UMLS:CN227223 {source="MONDO:equivalentTo"} is_a: MONDO:0016112 {source="Orphanet:324381"} ! inclusion myopathy @@ -346099,7 +345939,7 @@ name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial def: "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." [Orphanet:324525] subset: ordo_disease {source="Orphanet:324525"} synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [Orphanet:324525] -xref: ICD10CM:I42.2 {source="Orphanet:324525", source="ORDO:324525/attributed", source="ORDO:324525/ntbt"} +xref: ICD10CM:I42.2 {source="Orphanet:324525/attributed", source="Orphanet:324525/ntbt", source="Orphanet:324525"} xref: Orphanet:324525 {source="MONDO:equivalentTo"} xref: UMLS:CN204073 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -346113,7 +345953,7 @@ def: "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability subset: ordo_malformation_syndrome {source="Orphanet:324540"} synonym: "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540] synonym: "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540] -xref: ICD10CM:Q87.0 {source="ORDO:324540/attributed", source="ORDO:324540/ntbt", source="Orphanet:324540"} +xref: ICD10CM:Q87.0 {source="Orphanet:324540/attributed", source="Orphanet:324540/ntbt", source="Orphanet:324540"} xref: Orphanet:324540 {source="MONDO:equivalentTo"} xref: UMLS:CN204076 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324540", source="indirect"} ! syndromic intellectual disability @@ -346126,7 +345966,7 @@ name: hyperinsulinism due to HNF1A deficiency def: "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." [Orphanet:324575] subset: ordo_disease {source="Orphanet:324575"} synonym: "hyperinsulinemic hypoglycemia due to HNF1A deficiency" EXACT [Orphanet:324575] -xref: ICD10CM:E16.1 {source="Orphanet:324575", source="ORDO:324575/attributed", source="ORDO:324575/ntbt"} +xref: ICD10CM:E16.1 {source="Orphanet:324575", source="Orphanet:324575/attributed", source="Orphanet:324575/ntbt"} xref: Orphanet:324575 {source="MONDO:equivalentTo"} xref: SCTID:721234004 {source="MONDO:equivalentTo"} xref: UMLS:C4303475 {source="MONDO:equivalentTo"} @@ -346137,7 +345977,7 @@ id: MONDO:0017936 name: benign Samaritan congenital myopathy def: "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." [Orphanet:324581] subset: ordo_disease {source="Orphanet:324581"} -xref: ICD10CM:G71.2 {source="ORDO:324581/attributed", source="ORDO:324581/ntbt", source="Orphanet:324581"} +xref: ICD10CM:G71.2 {source="Orphanet:324581", source="Orphanet:324581/attributed", source="Orphanet:324581/ntbt"} xref: Orphanet:324581 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy @@ -346145,7 +345985,7 @@ is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy id: MONDO:0017937 name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain subset: ordo_disease {source="Orphanet:324585"} -xref: ICD10CM:G60.0 {source="ORDO:324585/attributed", source="ORDO:324585/ntbt", source="Orphanet:324585"} +xref: ICD10CM:G60.0 {source="Orphanet:324585/attributed", source="Orphanet:324585/ntbt", source="Orphanet:324585"} xref: Orphanet:324585 {source="MONDO:equivalentTo"} xref: UMLS:CN204081 {source="MONDO:equivalentTo"} is_a: MONDO:0019548 {source="Orphanet:324585"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease @@ -346164,8 +346004,8 @@ name: classic multiminicore myopathy subset: ordo_clinical_subtype {source="Orphanet:324604"} synonym: "classic MmD" EXACT [Orphanet:324604] synonym: "classic multiminicore disease" EXACT [Orphanet:324604] -xref: ICD10CM:G71.2 {source="ORDO:324604/attributed", source="ORDO:324604/ntbt", source="Orphanet:324604"} -xref: OMIM:602771 {source="MONDO:subClassOf", source="ORDO:324604/ntbt", source="Orphanet:324604"} +xref: ICD10CM:G71.2 {source="Orphanet:324604", source="Orphanet:324604/attributed", source="Orphanet:324604/ntbt"} +xref: OMIM:602771 {source="MONDO:subClassOf", source="Orphanet:324604", source="Orphanet:324604/ntbt"} xref: Orphanet:324604 {source="MONDO:equivalentTo"} xref: UMLS:CN204085 {source="MONDO:equivalentTo"} is_a: MONDO:0018948 {source="Orphanet:324604"} ! multiminicore myopathy @@ -346177,7 +346017,7 @@ name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutatio def: "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." [Orphanet:324611] subset: ordo_disease {source="Orphanet:324611"} synonym: "CMT2 due to KIF5A mutation" EXACT [Orphanet:324611] -xref: ICD10CM:G60.0 {source="Orphanet:324611", source="ORDO:324611/attributed", source="ORDO:324611/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:324611", source="Orphanet:324611/attributed", source="Orphanet:324611/ntbt"} xref: Orphanet:324611 {source="MONDO:equivalentTo"} xref: SCTID:764730007 {source="MONDO:equivalentTo"} xref: UMLS:CN204086 {source="MONDO:equivalentTo"} @@ -346202,7 +346042,7 @@ synonym: "CHIKV infection" RELATED [GARD:0006038] synonym: "CK" RELATED ABBREVIATION [GARD:0006038] xref: DOID:0050012 {source="MONDO:equivalentTo"} xref: GARD:0006038 {source="MONDO:equivalentTo"} -xref: ICD10CM:A92.0 {source="ORDO:324625/e", source="Orphanet:324625"} +xref: ICD10CM:A92.0 {source="Orphanet:324625", source="Orphanet:324625/e"} xref: MESH:D065632 {source="MONDO:equivalentTo"} xref: NCIT:C128422 {source="MONDO:equivalentTo"} xref: Orphanet:324625 {source="MONDO:equivalentTo"} @@ -346226,7 +346066,7 @@ subset: ordo_disease {source="Orphanet:324632"} synonym: "Hendra henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hendra henipavirus disease or disorder" EXACT [] synonym: "Hendra henipavirus infectious disease" EXACT [] -xref: ICD10CM:B33.8 {source="Orphanet:324632", source="ORDO:324632/ntbt"} +xref: ICD10CM:B33.8 {source="Orphanet:324632/ntbt", source="Orphanet:324632"} xref: Orphanet:324632 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 {source="Orphanet:324632"} ! infectious encephalitis intersection_of: MONDO:0005550 ! infectious disease @@ -346243,7 +346083,7 @@ synonym: "GDS" EXACT ABBREVIATION [Orphanet:324636] synonym: "painful bruising syndrome" EXACT [Orphanet:324636] synonym: "psychogenic purpura" EXACT [Orphanet:324636] xref: GARD:0006481 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D69.2 {source="ORDO:324636/ntbt", source="Orphanet:324636"} +xref: ICD10CM:D69.2 {source="Orphanet:324636", source="Orphanet:324636/ntbt"} xref: ICD9:287.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535645 {source="MONDO:equivalentTo"} xref: Orphanet:324636 {source="MONDO:equivalentTo"} @@ -346258,11 +346098,11 @@ def: "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious subset: ordo_disease {source="Orphanet:324648"} synonym: "iNTS disease" EXACT [Orphanet:324648] synonym: "invasive non-typhoidal salmonella disease" EXACT [Orphanet:324648] -xref: ICD10CM:A02.0 {source="ORDO:324648/btnt", source="Orphanet:324648"} -xref: ICD10CM:A02.1 {source="ORDO:324648/btnt", source="Orphanet:324648"} -xref: ICD10CM:A02.2 {source="ORDO:324648/btnt", source="Orphanet:324648"} -xref: ICD10CM:A02.8 {source="ORDO:324648/btnt", source="Orphanet:324648"} -xref: ICD10CM:A02.9 {source="ORDO:324648/btnt", source="Orphanet:324648"} +xref: ICD10CM:A02.0 {source="Orphanet:324648", source="Orphanet:324648/btnt"} +xref: ICD10CM:A02.1 {source="Orphanet:324648", source="Orphanet:324648/btnt"} +xref: ICD10CM:A02.2 {source="Orphanet:324648", source="Orphanet:324648/btnt"} +xref: ICD10CM:A02.8 {source="Orphanet:324648", source="Orphanet:324648/btnt"} +xref: ICD10CM:A02.9 {source="Orphanet:324648", source="Orphanet:324648/btnt"} xref: Orphanet:324648 {source="MONDO:equivalentTo"} xref: SCTID:763772002 {source="MONDO:equivalentTo"} is_a: MONDO:0000827 {source="Orphanet:324648"} ! salmonellosis @@ -346276,9 +346116,9 @@ synonym: "ABeta amyloidosis, Piedmont type" EXACT [Orphanet:324703] synonym: "ABetaL34V-related amyloidosis" EXACT [Orphanet:324703] synonym: "HCHWA, Piedmont type" EXACT [Orphanet:324703] synonym: "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" EXACT [Orphanet:324703] -xref: ICD10EXP:E85.4+ {source="ORDO:324703/attributed", source="ORDO:324703/ntbt", source="Orphanet:324703"} -xref: ICD10EXP:I68.0* {source="ORDO:324703/attributed", source="ORDO:324703/ntbt", source="Orphanet:324703"} -xref: OMIM:605714 {source="MONDO:subClassOf", source="ORDO:324703/ntbt", source="Orphanet:324703"} +xref: ICD10EXP:E85.4+ {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} +xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:324703", source="Orphanet:324703/ntbt"} xref: Orphanet:324703 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: confidence "0.5" xsd:double @@ -346292,9 +346132,9 @@ synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708] synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708] synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708] -xref: ICD10EXP:E85.4+ {source="ORDO:324708/attributed", source="ORDO:324708/ntbt", source="Orphanet:324708"} -xref: ICD10EXP:I68.0* {source="ORDO:324708/attributed", source="ORDO:324708/ntbt", source="Orphanet:324708"} -xref: OMIM:605714 {source="MONDO:subClassOf", source="ORDO:324708/ntbt", source="Orphanet:324708"} +xref: ICD10EXP:E85.4+ {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} +xref: ICD10EXP:I68.0* {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} +xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:324708/ntbt", source="Orphanet:324708"} xref: Orphanet:324708 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: confidence "0.5" xsd:double @@ -346308,9 +346148,9 @@ synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713] synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Italian type" EXACT [Orphanet:324713] synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713] -xref: ICD10EXP:E85.4+ {source="ORDO:324713/attributed", source="ORDO:324713/ntbt", source="Orphanet:324713"} -xref: ICD10EXP:I68.0* {source="ORDO:324713/attributed", source="ORDO:324713/ntbt", source="Orphanet:324713"} -xref: OMIM:605714 {source="MONDO:subClassOf", source="ORDO:324713/ntbt", source="Orphanet:324713"} +xref: ICD10EXP:E85.4+ {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} +xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:324713", source="Orphanet:324713/ntbt"} xref: Orphanet:324713 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: confidence "0.5" xsd:double @@ -346325,9 +346165,9 @@ synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718] synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID:0070028] synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718] synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718] -xref: ICD10EXP:E85.4+ {source="ORDO:324718/attributed", source="ORDO:324718/ntbt", source="Orphanet:324718"} -xref: ICD10EXP:I68.0* {source="ORDO:324718/attributed", source="ORDO:324718/ntbt", source="Orphanet:324718"} -xref: OMIM:605714 {source="MONDO:subClassOf", source="ORDO:324718/ntbt", source="Orphanet:324718"} +xref: ICD10EXP:E85.4+ {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} +xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:324718", source="Orphanet:324718/ntbt"} xref: Orphanet:324718 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: confidence "0.5" xsd:double @@ -346341,9 +346181,9 @@ synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723] synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028] synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723] synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723] -xref: ICD10EXP:E85.4+ {source="Orphanet:324723", source="ORDO:324723/attributed", source="ORDO:324723/ntbt"} -xref: ICD10EXP:I68.0* {source="Orphanet:324723", source="ORDO:324723/attributed", source="ORDO:324723/ntbt"} -xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:324723", source="ORDO:324723/ntbt"} +xref: ICD10EXP:E85.4+ {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} +xref: ICD10EXP:I68.0* {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} +xref: OMIM:605714 {source="MONDO:subClassOf", source="Orphanet:324723/ntbt", source="Orphanet:324723"} xref: Orphanet:324723 {source="MONDO:equivalentTo"} is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related property_value: confidence "0.5" xsd:double @@ -346353,7 +346193,7 @@ id: MONDO:0017950 name: microcephalic primordial dwarfism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:324761"} -xref: ICD10CM:Q87.1 {source="ORDO:324761/attributed", source="ORDO:324761/ntbt", source="Orphanet:324761"} +xref: ICD10CM:Q87.1 {source="Orphanet:324761/attributed", source="Orphanet:324761/ntbt", source="Orphanet:324761"} xref: Orphanet:324761 {source="MONDO:equivalentTo"} xref: UMLS:CN437676 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324761", source="indirect"} ! syndromic intellectual disability @@ -346369,7 +346209,7 @@ name: trichorhinophalangeal syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:324764"} synonym: "TRPS" EXACT ABBREVIATION [MONDO:Lexical] -xref: ICD10CM:Q87.8 {source="Orphanet:324764", source="ORDO:324764/attributed", source="ORDO:324764/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:324764/attributed", source="Orphanet:324764/ntbt", source="Orphanet:324764"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: OMIMPS:190350 {source="MONDO:equivalentTo"} xref: Orphanet:324764 {source="MONDO:equivalentTo"} @@ -346398,7 +346238,7 @@ def: "An instance of periodic fever syndrome that is caused by an inherited modi subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:324924"} synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:E85.0 {source="ORDO:324924/attributed", source="ORDO:324924/ntbt", source="Orphanet:324924"} +xref: ICD10CM:E85.0 {source="Orphanet:324924", source="Orphanet:324924/attributed", source="Orphanet:324924/ntbt"} xref: MESH:D056660 {source="MONDO:equivalentTo"} xref: Orphanet:324924 {source="MONDO:equivalentTo"} xref: UMLS:CN204099 {source="MONDO:equivalentTo"} @@ -346505,7 +346345,7 @@ name: 46,XX disorder of sex development induced by endogenous maternal-derived a subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:325093"} synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [Orphanet:325093] -xref: ICD10CM:Q56.2 {source="ORDO:325093/ntbt", source="Orphanet:325093"} +xref: ICD10CM:Q56.2 {source="Orphanet:325093", source="Orphanet:325093/ntbt"} xref: Orphanet:325093 {source="MONDO:equivalentTo"} xref: UMLS:CN227227 {source="MONDO:equivalentTo"} is_a: MONDO:0019608 {source="Orphanet:325093"} ! 46,XX disorder of sex development induced by maternal-derived androgen @@ -346516,7 +346356,7 @@ name: 46,XX disorder of sex development induced by exogenous maternal-derived an subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:325099"} synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [Orphanet:325099] -xref: ICD10CM:Q56.2 {source="ORDO:325099/ntbt", source="Orphanet:325099"} +xref: ICD10CM:Q56.2 {source="Orphanet:325099/ntbt", source="Orphanet:325099"} xref: Orphanet:325099 {source="MONDO:equivalentTo"} xref: UMLS:CN227228 {source="MONDO:equivalentTo"} is_a: MONDO:0019608 {source="Orphanet:325099"} ! 46,XX disorder of sex development induced by maternal-derived androgen @@ -346557,7 +346397,7 @@ synonym: "bilateral anorchia" EXACT [Orphanet:325124] synonym: "congenital absence of testes" RELATED [GARD:0005819] synonym: "empty scrotum" RELATED [GARD:0005819] xref: GARD:0005819 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q55.0 {source="ORDO:325124/attributed", source="ORDO:325124/ntbt", source="Orphanet:325124"} +xref: ICD10CM:Q55.0 {source="Orphanet:325124/attributed", source="Orphanet:325124/ntbt", source="Orphanet:325124"} xref: Orphanet:325124 {source="MONDO:equivalentTo"} xref: SCTID:371015003 {source="MONDO:equivalentTo"} is_a: MONDO:0005372 ! male infertility @@ -346616,7 +346456,7 @@ id: MONDO:0017972 name: classic congenital lipoid adrenal hyperplasia due to STAR deficency subset: ordo_clinical_subtype {source="Orphanet:325524"} synonym: "classic CLAH" EXACT [Orphanet:325524] -xref: ICD10CM:E25.0 {source="Orphanet:325524", source="ORDO:325524/attributed", source="ORDO:325524/ntbt"} +xref: ICD10CM:E25.0 {source="Orphanet:325524", source="Orphanet:325524/attributed", source="Orphanet:325524/ntbt"} xref: Orphanet:325524 {source="MONDO:equivalentTo"} is_a: MONDO:0008725 {source="Orphanet:325524"} ! congenital lipoid adrenal hyperplasia due to STAR deficency relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -346626,7 +346466,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0017973 name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency subset: ordo_clinical_subtype {source="Orphanet:325529"} -xref: ICD10CM:E25.0 {source="ORDO:325529/attributed", source="ORDO:325529/ntbt", source="Orphanet:325529"} +xref: ICD10CM:E25.0 {source="Orphanet:325529", source="Orphanet:325529/attributed", source="Orphanet:325529/ntbt"} xref: Orphanet:325529 {source="MONDO:equivalentTo"} is_a: MONDO:0005372 {source="MONDO:0018387-obsoleted", source="MONDO:0018406-obsoleted"} ! male infertility is_a: MONDO:0008725 {source="Orphanet:325529"} ! congenital lipoid adrenal hyperplasia due to STAR deficency @@ -346705,18 +346545,18 @@ synonym: "FAS deficiency" EXACT [Orphanet:3261] xref: CSP:1560-5548 {source="DOID:6688"} xref: DOID:6688 {source="MONDO:equivalentTo"} xref: GARD:0008686 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D47.9 {source="ORDO:3261/attributed", source="ORDO:3261/ntbt", source="DOID:6688", source="Orphanet:3261"} +xref: ICD10CM:D47.9 {source="DOID:6688", source="Orphanet:3261/attributed", source="Orphanet:3261/ntbt", source="Orphanet:3261"} xref: ICD10CM:D89.82 {source="DOID:6688"} xref: ICD9:279.41 {source="DOID:6688", source="MONDO:superClassOf"} -xref: MedDRA:10069521 {source="ORDO:3261/e", source="Orphanet:3261"} -xref: MESH:D056735 {source="DOID:6688", source="MONDO:equivalentTo", source="ORDO:3261/e", source="Orphanet:3261"} +xref: MedDRA:10069521 {source="Orphanet:3261/e", source="Orphanet:3261"} +xref: MESH:D056735 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:equivalentTo", source="Orphanet:3261"} xref: NCIT:C37864 {source="DOID:6688", source="MONDO:equivalentTo"} -xref: OMIM:601859 {source="DOID:6688", source="MONDO:superClassOf", source="ORDO:3261/e", source="Orphanet:3261"} -xref: OMIM:603909 {source="ORDO:3261/btnt", source="MONDO:superClassOf", source="Orphanet:3261"} -xref: OMIM:615559 {source="ORDO:3261/btnt", source="MONDO:superClassOf", source="Orphanet:3261"} +xref: OMIM:601859 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:superClassOf", source="Orphanet:3261"} +xref: OMIM:603909 {source="MONDO:superClassOf", source="Orphanet:3261/btnt", source="Orphanet:3261"} +xref: OMIM:615559 {source="MONDO:superClassOf", source="Orphanet:3261/btnt", source="Orphanet:3261"} xref: Orphanet:3261 {source="DOID:6688", source="MONDO:equivalentTo"} xref: SCTID:702444009 {source="DOID:6688", source="MONDO:superClassOf"} -xref: UMLS:C1328840 {source="DOID:6688", source="MONDO:equivalentTo", source="NCIT:C37864", source="ORDO:3261/e", source="Orphanet:3261"} +xref: UMLS:C1328840 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:equivalentTo", source="NCIT:C37864", source="Orphanet:3261"} is_a: MONDO:0002459 {source="DOID:6688"} ! type IV hypersensitivity disease is_a: MONDO:0016537 {source="MESH:D056735", source="MONDO:Redundant", source="Orphanet:3261"} ! lymphoproliferative syndrome is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C37864", source="indirect"} ! neoplastic syndrome @@ -346757,7 +346597,7 @@ name: humero-radio-ulnar synostosis def: "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." [Orphanet:3266] subset: ordo_morphological_anomaly {source="Orphanet:3266"} synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266] -xref: ICD10CM:Q74.0 {source="Orphanet:3266", source="ORDO:3266/attributed", source="ORDO:3266/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:3266", source="Orphanet:3266/attributed", source="Orphanet:3266/ntbt"} xref: Orphanet:3266 {source="MONDO:equivalentTo"} is_a: MONDO:0017429 {source="Orphanet:3266"} ! joint formation defects @@ -346769,8 +346609,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:3267"} synonym: "craniosynostosis, lambdoidal" RELATED [GARD:0003168] synonym: "lambdoid synostosis" RELATED [GARD:0003168] xref: GARD:0003168 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:3267", source="ORDO:3267/attributed", source="ORDO:3267/ntbt"} -xref: OMIM:600775 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:3267", source="ORDO:3267/ntbt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:3267/attributed", source="Orphanet:3267/ntbt", source="Orphanet:3267"} +xref: OMIM:600775 {source="MONDO:subClassOf", source="Orphanet:3267/ntbt", source="MONDO:relatedTo", source="Orphanet:3267"} xref: Orphanet:3267 {source="MONDO:equivalentTo"} xref: SCTID:766884000 {source="MONDO:equivalentTo"} xref: UMLS:CN204142 {source="MONDO:equivalentTo"} @@ -346795,14 +346635,14 @@ xref: DOID:9827 {source="MONDO:equivalentTo"} xref: GARD:0004630 {source="MONDO:equivalentTo"} xref: GARD:0010876 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002974 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q74.0 {source="Orphanet:3269", source="DOID:9827", source="ORDO:3269/ntbt", source="ORDO:3269/inclusion"} +xref: ICD10CM:Q74.0 {source="Orphanet:3269/inclusion", source="Orphanet:3269/ntbt", source="Orphanet:3269", source="DOID:9827"} xref: ICD9:755.53 {source="DOID:9827", source="MONDO:equivalentTo", source="i2s"} xref: MESH:C562408 {source="DOID:9827", source="MONDO:equivalentTo"} -xref: OMIM:179300 {source="GARD:0004630", source="MONDO:relatedTo", source="Orphanet:3269", source="DOID:9827", source="ORDO:3269/ntbt"} +xref: OMIM:179300 {source="Orphanet:3269/ntbt", source="GARD:0004630", source="MONDO:relatedTo", source="Orphanet:3269", source="DOID:9827"} xref: Orphanet:3269 {source="MONDO:equivalentTo", source="OMIM:179300", source="MONDO:superClassOf"} xref: SCTID:33313004 {source="DOID:9827", source="MONDO:equivalentTo"} xref: UMLS:C0158761 {source="NCBI:mim2gene_medline", source="Orphanet:3269", source="DOID:9827", source="OMIM:179300", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0431795 {source="ORDO:3269/e", source="Orphanet:3269", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0431795 {source="Orphanet:3269", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3269/e"} xref: UMLS:C2931147 {source="GARD:0004630", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017429 {source="Orphanet:3269"} ! joint formation defects relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -346832,17 +346672,17 @@ subset: ordo_group_of_disorders {source="Orphanet:3280"} synonym: "hydromyelia" RELATED [Orphanet:3280] xref: DOID:327 {source="MONDO:equivalentTo"} xref: GARD:0007725 {source="MONDO:equivalentTo"} -xref: ICD10CM:G95.0 {source="Orphanet:3280", source="ORDO:3280/e"} -xref: ICD10CM:Q06.4 {source="Orphanet:3280", source="ORDO:3280/e"} -xref: MedDRA:10042928 {source="Orphanet:3280", source="ORDO:3280/e"} -xref: MESH:D013595 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="ORDO:3280/e"} +xref: ICD10CM:G95.0 {source="Orphanet:3280", source="Orphanet:3280/e"} +xref: ICD10CM:Q06.4 {source="Orphanet:3280", source="Orphanet:3280/e"} +xref: MedDRA:10042928 {source="Orphanet:3280", source="Orphanet:3280/e"} +xref: MESH:D013595 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="Orphanet:3280/e"} xref: NCIT:C85179 {source="DOID:327", source="MONDO:equivalentTo"} -xref: OMIM:186700 {source="MONDO:superClassOf", source="Orphanet:3280", source="ORDO:3280/e"} +xref: OMIM:186700 {source="MONDO:superClassOf", source="Orphanet:3280", source="Orphanet:3280/e"} xref: Orphanet:3280 {source="MONDO:equivalentTo"} xref: SCTID:111496009 {source="DOID:327", source="MONDO:equivalentTo"} xref: SCTID:155020007 {source="DOID:327"} xref: SCTID:267695005 {source="DOID:327"} -xref: UMLS:C0039144 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="ORDO:3280/e", source="NCIT:C85179"} +xref: UMLS:C0039144 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="NCIT:C85179", source="Orphanet:3280/e"} xref: UMLS:C0152444 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3280"} xref: UMLS:C1861301 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3280"} is_a: MONDO:0002545 {source="DOID:327", source="MESH:D013595", source="NCIT:C85179", source="linkedlifedata"} ! spinal cord disorder @@ -346860,7 +346700,7 @@ synonym: "multifocal atrial tachycardia" EXACT [MONDO:ambiguous] synonym: "multifocal atrial tachycardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0001235 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011701 {source="MONDO:otherHierarchy"} -xref: ICD10CM:I47.1 {source="ORDO:3282/ntbt", source="Orphanet:3282"} +xref: ICD10CM:I47.1 {source="Orphanet:3282", source="Orphanet:3282/ntbt"} xref: ICD9:427.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:3282 {source="MONDO:equivalentTo"} xref: SCTID:49982000 {source="MONDO:equivalentTo"} @@ -346877,7 +346717,7 @@ subset: ordo_disease {source="Orphanet:3283"} synonym: "JET" EXACT ABBREVIATION [Orphanet:3283] synonym: "junctional ectopic tachycardia" EXACT [Orphanet:3283] xref: GARD:0002706 {source="MONDO:equivalentTo"} -xref: ICD10CM:I47.1 {source="ORDO:3283/inclusion", source="ORDO:3283/e", source="Orphanet:3283"} +xref: ICD10CM:I47.1 {source="Orphanet:3283/e", source="Orphanet:3283/inclusion", source="Orphanet:3283"} xref: ICD9:427.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D013613 {source="MONDO:equivalentTo"} xref: NCIT:C111646 {source="MONDO:equivalentTo"} @@ -346908,13 +346748,13 @@ synonym: "syncopal paroxysmal tachycardia" RELATED [GARD:0004421] synonym: "ventricular tachycardia, catecholaminergic polymorphic" EXACT [OMIMPS:604772] xref: DOID:0060674 {source="MONDO:equivalentTo"} xref: GARD:0004421 {source="MONDO:equivalentTo"} -xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="ORDO:3286/attributed", source="ORDO:3286/ntbt", source="Orphanet:3286"} +xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="Orphanet:3286/attributed", source="Orphanet:3286/ntbt", source="Orphanet:3286"} xref: MESH:C536334 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:604772 {source="GARD:0004421", source="MONDO:superClassOf", source="Orphanet:3286", source="ORDO:3286/e"} -xref: OMIM:611938 {source="MONDO:superClassOf", source="ORDO:3286/btnt", source="Orphanet:3286"} -xref: OMIM:614021 {source="MONDO:superClassOf", source="ORDO:3286/btnt", source="Orphanet:3286"} -xref: OMIM:614916 {source="MONDO:superClassOf", source="ORDO:3286/btnt", source="Orphanet:3286"} -xref: OMIM:615441 {source="MONDO:superClassOf", source="ORDO:3286/btnt", source="Orphanet:3286"} +xref: OMIM:604772 {source="GARD:0004421", source="Orphanet:3286/e", source="MONDO:superClassOf", source="Orphanet:3286"} +xref: OMIM:611938 {source="MONDO:superClassOf", source="Orphanet:3286/btnt", source="Orphanet:3286"} +xref: OMIM:614021 {source="MONDO:superClassOf", source="Orphanet:3286/btnt", source="Orphanet:3286"} +xref: OMIM:614916 {source="MONDO:superClassOf", source="Orphanet:3286/btnt", source="Orphanet:3286"} +xref: OMIM:615441 {source="MONDO:superClassOf", source="Orphanet:3286/btnt", source="Orphanet:3286"} xref: OMIMPS:604772 {source="DOID:0060674", source="MONDO:equivalentTo"} xref: Orphanet:3286 {source="GARD:0004421", source="DOID:0060674", source="MONDO:equivalentTo"} xref: SCTID:419671004 {source="MONDO:equivalentTo"} @@ -346943,14 +346783,14 @@ synonym: "Young female arteritis" RELATED [OMIM:207600] xref: DOID:2508 {source="MONDO:equivalentTo"} xref: EFO:1001857 {source="MONDO:equivalentTo"} xref: GARD:0007730 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:M31.4 {source="Orphanet:3287", source="ORDO:3287/e", source="DOID:2508"} +xref: ICD10CM:M31.4 {source="Orphanet:3287", source="Orphanet:3287/e", source="DOID:2508"} xref: ICD9:446.7 {source="DOID:2508"} -xref: MedDRA:10043097 {source="Orphanet:3287", source="ORDO:3287/e"} +xref: MedDRA:10043097 {source="Orphanet:3287", source="Orphanet:3287/e"} xref: MESH:D001015 {source="DOID:2508"} -xref: MESH:D013625 {source="Orphanet:3287", source="MONDO:equivalentTo", source="ORDO:3287/e", source="DOID:2508"} +xref: MESH:D013625 {source="Orphanet:3287", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"} xref: NCIT:C34391 {source="MONDO:equivalentTo", source="DOID:2508"} xref: NCIT:C35062 {source="MONDO:equivalentTo", source="DOID:2508"} -xref: OMIM:207600 {source="Orphanet:3287", source="MONDO:equivalentTo", source="ORDO:3287/e", source="DOID:2508"} +xref: OMIM:207600 {source="Orphanet:3287", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"} xref: Orphanet:3287 {source="MONDO:subClassOf", source="OMIM:207600", source="MONDO:equivalentTo"} xref: SCTID:155445002 {source="DOID:2508"} xref: SCTID:195361009 {source="DOID:2508"} @@ -346960,7 +346800,7 @@ xref: SCTID:359789008 {source="DOID:2508"} xref: SCTID:42153001 {source="DOID:2508"} xref: UMLS:C0003490 {source="OMIM:207600", source="MONDO:notFoundInDiseaseSubset", source="DOID:2508"} xref: UMLS:C0035615 {source="NCIT:C34391", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0039263 {source="NCIT:C35062", source="Orphanet:3287", source="NCBI:mim2gene_medline", source="OMIM:207600", source="MONDO:equivalentTo", source="ORDO:3287/e", source="DOID:2508"} +xref: UMLS:C0039263 {source="NCIT:C35062", source="Orphanet:3287", source="NCBI:mim2gene_medline", source="OMIM:207600", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"} is_a: MONDO:0000473 {source="DOID:2508", source="NCIT:C34391", source="NCIT:C35062/inferred", source="linkedlifedata/inferred"} ! arterial disorder is_a: MONDO:0002254 {source="DOID:2508", source="NCIT:C34391"} ! syndromic disease is_a: MONDO:0015488 {source="Orphanet:3287"} ! predominantly large-vessel vasculitis @@ -346972,7 +346812,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0017992 name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis subset: ordo_disease {source="Orphanet:329173"} -xref: OMIM:615895 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:329173", source="ORDO:329173/ntbt"} +xref: OMIM:615895 {source="MONDO:subClassOf", source="Orphanet:329173/ntbt", source="MONDO:relatedTo", source="Orphanet:329173"} xref: Orphanet:329173 {source="MONDO:equivalentTo"} xref: UMLS:CN237438 {source="MONDO:equivalentTo"} is_a: MONDO:0015823 ! primary immunodeficiency due to a defect in adaptive immunity @@ -346985,7 +346825,7 @@ name: cerebral sinovenous thrombosis def: "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents." [PMID:28798906] subset: ordo_disease {source="Orphanet:329217"} synonym: "CSVT" EXACT ABBREVIATION [Orphanet:329217, PMID:28798906] -xref: ICD10CM:I67.6 {source="Orphanet:329217", source="ORDO:329217/ntbt"} +xref: ICD10CM:I67.6 {source="Orphanet:329217", source="Orphanet:329217/ntbt"} xref: Orphanet:329217 {source="MONDO:equivalentTo"} is_a: MONDO:0020676 {source="Orphanet:329217"} ! disorder of central nervous system or retinal vasculature relationship: disease_has_feature HP:0001977 {source="PMID:28798906"} ! Abnormal thrombosis @@ -346996,7 +346836,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare id: MONDO:0017994 name: severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency subset: ordo_disease {source="Orphanet:329249"} -xref: ICD10CM:E66.8 {source="ORDO:329249/attributed", source="ORDO:329249/ntbt", source="Orphanet:329249"} +xref: ICD10CM:E66.8 {source="Orphanet:329249/attributed", source="Orphanet:329249/ntbt", source="Orphanet:329249"} xref: Orphanet:329249 {source="MONDO:equivalentTo"} xref: UMLS:CN204200 {source="MONDO:equivalentTo"} is_a: MONDO:0020075 {source="Orphanet:329249"} ! genetic non-syndromic obesity @@ -347018,7 +346858,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO: id: MONDO:0017996 name: obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency comment: Obsolete in Orphanet -xref: OMIM:615057 {source="ORDO:329255/e", source="Orphanet:329255", source="MONDO:obsoleteEquivalentObsolete"} +xref: OMIM:615057 {source="Orphanet:329255/e", source="Orphanet:329255", source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:329255 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN204202 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -347043,7 +346883,7 @@ synonym: "neurodegeneration with brain iron accumulation caused by mutation in P synonym: "PLA2G6 neurodegeneration with brain iron accumulation" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PLAN" EXACT ABBREVIATION [Orphanet:329303] xref: GARD:0012567 {source="MONDO:equivalentTo"} -xref: ICD10CM:G23.0 {source="ORDO:329303/attributed", source="ORDO:329303/ntbt", source="Orphanet:329303"} +xref: ICD10CM:G23.0 {source="Orphanet:329303/attributed", source="Orphanet:329303/ntbt", source="Orphanet:329303"} xref: Orphanet:329303 {source="MONDO:equivalentTo"} intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9039 ! PLA2G6 @@ -347057,7 +346897,7 @@ def: "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, subset: ordo_disease {source="Orphanet:329308"} synonym: "FAHN" EXACT ABBREVIATION [Orphanet:329308] xref: GARD:0010810 {source="MONDO:equivalentTo"} -xref: ICD10CM:G23.0 {source="Orphanet:329308", source="ORDO:329308/attributed", source="ORDO:329308/ntbt"} +xref: ICD10CM:G23.0 {source="Orphanet:329308", source="Orphanet:329308/attributed", source="Orphanet:329308/ntbt"} xref: Orphanet:329308 {source="MONDO:equivalentTo"} xref: UMLS:C3668943 {source="Orphanet:329308", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015089 {source="Orphanet:329308"} ! autosomal recessive complex spastic paraplegia @@ -347072,7 +346912,7 @@ def: "Thrombocythemia with distal limb defects is a rare, genetic syndrome with subset: ordo_disease {source="Orphanet:329319"} synonym: "familial thrombocytosis with transverse limb defect" EXACT [Orphanet:329319] synonym: "thrombocythemia with distal limb defects" RELATED [Orphanet:329319] -xref: ICD10CM:Q87.2 {source="Orphanet:329319", source="ORDO:329319/attributed", source="ORDO:329319/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:329319", source="Orphanet:329319/attributed", source="Orphanet:329319/ntbt"} xref: Orphanet:329319 {source="MONDO:equivalentTo"} xref: UMLS:CN204208 {source="MONDO:equivalentTo"} is_a: MONDO:0018234 ! dysostosis @@ -347086,7 +346926,7 @@ name: inverse Klippel-Trenaunay syndrome subset: ordo_disease {source="Orphanet:329324"} synonym: "cutaneous hemangioma with muscle or bone atrophy" EXACT [Orphanet:329324] synonym: "inverse Klippel-Trénaunay syndrome" RELATED [Orphanet:329324] -xref: ICD10CM:Q87.2 {source="ORDO:329324/inclusion", source="Orphanet:329324", source="ORDO:329324/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:329324/ntbt", source="Orphanet:329324/inclusion", source="Orphanet:329324"} xref: Orphanet:329324 {source="MONDO:equivalentTo"} xref: UMLS:CN204209 {source="MONDO:equivalentTo"} is_a: MONDO:0016524 {source="Orphanet:329324"} ! congenital vascular bone syndrome @@ -347099,8 +346939,8 @@ name: adult-onset chronic progressive external ophthalmoplegia with mitochondria def: "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." [Orphanet:329336] subset: ordo_disease {source="Orphanet:329336"} synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [Orphanet:329336] -xref: ICD10CM:G71.3 {source="ORDO:329336/attributed", source="ORDO:329336/ntbt", source="Orphanet:329336"} -xref: OMIM:616479 {source="MONDO:superClassOf", source="ORDO:329336/btnt", source="Orphanet:329336"} +xref: ICD10CM:G71.3 {source="Orphanet:329336/attributed", source="Orphanet:329336/ntbt", source="Orphanet:329336"} +xref: OMIM:616479 {source="Orphanet:329336/btnt", source="MONDO:superClassOf", source="Orphanet:329336"} xref: Orphanet:329336 {source="MONDO:equivalentTo"} xref: SCTID:725464001 {source="MONDO:equivalentTo"} xref: UMLS:C4511138 {source="MONDO:equivalentTo"} @@ -347115,7 +346955,7 @@ name: limbic encephalitis with DPP6 antibodies subset: ordo_disease {source="Orphanet:329341"} synonym: "limbic encephalitis with dipeptidyl-peptidase 6 antibodies" EXACT [Orphanet:329341] synonym: "limbic encephalitis with DPPX antibodies" EXACT [Orphanet:329341] -xref: ICD10CM:G13.1 {source="ORDO:329341/ntbt", source="Orphanet:329341"} +xref: ICD10CM:G13.1 {source="Orphanet:329341", source="Orphanet:329341/ntbt"} xref: Orphanet:329341 {source="MONDO:equivalentTo"} is_a: MONDO:0015594 {source="Orphanet:329341"} ! non-paraneoplastic limbic encephalitis @@ -347124,7 +346964,7 @@ id: MONDO:0018004 name: acute megakaryoblastic leukemia without down syndrome subset: ordo_clinical_subtype {source="Orphanet:329469"} synonym: "non-DS-AMKL" EXACT [Orphanet:329469] -xref: ICD10CM:C94.2 {source="ORDO:329469/ntbt", source="Orphanet:329469"} +xref: ICD10CM:C94.2 {source="Orphanet:329469/ntbt", source="Orphanet:329469"} xref: Orphanet:329469 {source="MONDO:equivalentTo"} xref: UMLS:CN204216 {source="MONDO:equivalentTo"} is_a: MONDO:0018872 {source="Orphanet:329469"} ! acute megakaryoblastic leukemia @@ -347134,7 +346974,7 @@ id: MONDO:0018005 name: spastic paraplegia-Paget disease of bone syndrome def: "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." [Orphanet:329475] subset: ordo_disease {source="Orphanet:329475"} -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:329475/attributed", source="ORDO:329475/ntbt", source="Orphanet:329475"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:329475/attributed", source="Orphanet:329475/ntbt", source="Orphanet:329475"} xref: Orphanet:329475 {source="MONDO:equivalentTo"} xref: UMLS:CN204217 {source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:329475"} ! autosomal dominant complex spastic paraplegia @@ -347145,7 +346985,7 @@ id: MONDO:0018006 name: adult-onset distal myopathy due to VCP mutation def: "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." [Orphanet:329478] subset: ordo_disease {source="Orphanet:329478"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:329478", source="ORDO:329478/attributed", source="ORDO:329478/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:329478/attributed", source="Orphanet:329478/ntbt", source="Orphanet:329478"} xref: Orphanet:329478 {source="MONDO:equivalentTo"} xref: UMLS:CN204218 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:329478"} ! autosomal dominant distal myopathy @@ -347170,7 +347010,7 @@ id: MONDO:0018008 name: idiopathic giant cell myocarditis subset: ordo_disease {source="Orphanet:329874"} synonym: "IGCM" EXACT ABBREVIATION [Orphanet:329874] -xref: ICD10CM:I40.8 {source="Orphanet:329874", source="ORDO:329874/ntbt"} +xref: ICD10CM:I40.8 {source="Orphanet:329874/ntbt", source="Orphanet:329874"} xref: Orphanet:329874 {source="MONDO:equivalentTo"} is_a: MONDO:0004994 {source="Orphanet:329874"} ! cardiomyopathy relationship: has_modifier MONDO:0700005 ! idiopathic @@ -347181,7 +347021,7 @@ name: non-hypoproteinemic hypertrophic gastropathy def: "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." [Orphanet:329883] subset: ordo_disease {source="Orphanet:329883"} synonym: "hypertrophic gastropathy without hypoproteinemia" EXACT [Orphanet:329883] -xref: ICD10CM:K29.6 {source="ORDO:329883/ntbt", source="Orphanet:329883"} +xref: ICD10CM:K29.6 {source="Orphanet:329883", source="Orphanet:329883/ntbt"} xref: Orphanet:329883 {source="MONDO:equivalentTo"} is_a: MONDO:0015111 {source="Orphanet:329883"} ! gastroesophageal disease @@ -347199,7 +347039,7 @@ id: MONDO:0018011 name: juvenile overlap myositis def: "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." [Orphanet:329894] subset: ordo_disease {source="Orphanet:329894"} -xref: ICD10CM:M33.0 {source="ORDO:329894/ntbt", source="Orphanet:329894"} +xref: ICD10CM:M33.0 {source="Orphanet:329894", source="Orphanet:329894/ntbt"} xref: Orphanet:329894 {source="MONDO:equivalentTo"} xref: SCTID:766252004 {source="MONDO:equivalentTo"} is_a: MONDO:0018010 {source="Orphanet:329894"} ! juvenile idiopathic inflammatory myopathy @@ -347218,9 +347058,9 @@ synonym: "C3 glomerulopathy" EXACT [Orphanet:329918] synonym: "non-Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329918] synonym: "non-Ig-mediated MPGN" EXACT [Orphanet:329918] synonym: "non-immunoglobulin-mediated MPGN" EXACT [Orphanet:329918] -xref: ICD10CM:N00.5 {source="ORDO:329918/attributed", source="ORDO:329918/ntbt", source="Orphanet:329918"} -xref: OMIM:609814 {source="ORDO:329918/btnt", source="MONDO:superClassOf", source="Orphanet:329918"} -xref: OMIM:614809 {source="ORDO:329918/btnt", source="MONDO:superClassOf", source="Orphanet:329918"} +xref: ICD10CM:N00.5 {source="Orphanet:329918", source="Orphanet:329918/attributed", source="Orphanet:329918/ntbt"} +xref: OMIM:609814 {source="MONDO:superClassOf", source="Orphanet:329918", source="Orphanet:329918/btnt"} +xref: OMIM:614809 {source="MONDO:superClassOf", source="Orphanet:329918", source="Orphanet:329918/btnt"} xref: Orphanet:329918 {source="MONDO:equivalentTo"} is_a: MONDO:0018904 {source="Orphanet:329918"} ! primary membranoproliferative glomerulonephritis @@ -347233,7 +347073,7 @@ synonym: "transient neonatal glutaric acidemia type 2" EXACT [Orphanet:329942] synonym: "transient neonatal glutaric aciduria type 2" EXACT [Orphanet:329942] synonym: "transient neonatal MAD deficiency" EXACT [Orphanet:329942] synonym: "transient neonatal MADD" EXACT [Orphanet:329942] -xref: ICD10CM:E71.3 {source="ORDO:329942/attributed", source="ORDO:329942/ntbt", source="Orphanet:329942"} +xref: ICD10CM:E71.3 {source="Orphanet:329942/attributed", source="Orphanet:329942/ntbt", source="Orphanet:329942"} xref: Orphanet:329942 {source="MONDO:equivalentTo"} xref: SCTID:723552005 {source="MONDO:equivalentTo"} xref: UMLS:CN204228 {source="MONDO:equivalentTo"} @@ -347244,7 +347084,7 @@ relationship: has_modifier HP:0025153 ! Transient id: MONDO:0018015 name: intermittent hydrarthrosis subset: ordo_disease {source="Orphanet:329967"} -xref: ICD10CM:M12.4 {source="ORDO:329967/e", source="Orphanet:329967", source="ORDO:329967/specific", source="MONDO:equivalentTo"} +xref: ICD10CM:M12.4 {source="Orphanet:329967", source="MONDO:equivalentTo", source="Orphanet:329967/e", source="Orphanet:329967/specific"} xref: Orphanet:329967 {source="MONDO:equivalentTo"} xref: SCTID:711286009 {source="MONDO:equivalentTo"} xref: UMLS:C0149910 {source="MONDO:equivalentTo"} @@ -347258,7 +347098,7 @@ def: "Classic endocrine tumor of the appendix is a type of endocrine tumor of th subset: ordo_clinical_subtype {source="Orphanet:329977"} synonym: "classic appendiceal neuroendocrine tumor" EXACT [Orphanet:329977] synonym: "classic appendix neuroendocrine tumor" EXACT [Orphanet:329977] -xref: ICD10CM:D37.3 {source="Orphanet:329977", source="ORDO:329977/ntbt"} +xref: ICD10CM:D37.3 {source="Orphanet:329977", source="Orphanet:329977/ntbt"} xref: Orphanet:329977 {source="MONDO:equivalentTo"} xref: UMLS:CN204231 {source="MONDO:equivalentTo"} is_a: MONDO:0015066 {source="Orphanet:329977"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade @@ -347276,7 +347116,7 @@ synonym: "goblet cell carcinoma" EXACT [MONDO:patterns/location] synonym: "goblet cell tumor" EXACT [Orphanet:329984] synonym: "mucinous carcinoid" RELATED [GARD:0010414] xref: GARD:0010414 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C18.1 {source="Orphanet:329984", source="ORDO:329984/ntbt"} +xref: ICD10CM:C18.1 {source="Orphanet:329984/ntbt", source="Orphanet:329984"} xref: Orphanet:329984 {source="MONDO:equivalentTo"} xref: UMLS:C0205695 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:329984"} is_a: MONDO:0015066 {source="Orphanet:329984"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade @@ -347292,7 +347132,7 @@ synonym: "ATTRwt-related amyloidosis" EXACT [Orphanet:330001] synonym: "Senile systemic amyloidosis" EXACT [Orphanet:330001] synonym: "SSA" EXACT ABBREVIATION [Orphanet:330001] synonym: "wild type ATTR-related amyloidosis" EXACT [Orphanet:330001] -xref: ICD10CM:E85.8 {source="Orphanet:330001", source="ORDO:330001/ntbt"} +xref: ICD10CM:E85.8 {source="Orphanet:330001", source="Orphanet:330001/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:330001 {source="MONDO:equivalentTo"} xref: SCTID:237877004 {source="MONDO:equivalentTo"} @@ -347309,7 +347149,7 @@ subset: ordo_disease {source="Orphanet:330015"} synonym: "Lead intoxication" EXACT [Orphanet:330015] synonym: "plumbism" EXACT [Orphanet:330015] synonym: "saturnism" EXACT [Orphanet:330015] -xref: ICD10CM:T56.0 {source="ORDO:330015/e", source="Orphanet:330015"} +xref: ICD10CM:T56.0 {source="Orphanet:330015", source="Orphanet:330015/e"} xref: ICD9:984.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:984.9 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D007855 {source="MONDO:equivalentTo"} @@ -347331,7 +347171,7 @@ synonym: "Mercury intoxication" EXACT [Orphanet:330021] synonym: "Mercury toxicity" RELATED [GARD:0007021] xref: EFO:1001810 {source="MONDO:equivalentTo"} xref: GARD:0007021 {source="MONDO:equivalentTo"} -xref: ICD10CM:T56.1 {source="Orphanet:330021", source="ORDO:330021/e"} +xref: ICD10CM:T56.1 {source="Orphanet:330021", source="Orphanet:330021/e"} xref: ICD9:985.0 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D008630 {source="MONDO:equivalentTo"} xref: Orphanet:330021 {source="MONDO:equivalentTo"} @@ -347347,7 +347187,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7021/mercury- id: MONDO:0018021 name: hypotrichosis-deafness syndrome subset: ordo_disease {source="Orphanet:330029"} -xref: ICD10CM:H90.5 {source="ORDO:330029/attributed", source="ORDO:330029/ntbt", source="Orphanet:330029"} +xref: ICD10CM:H90.5 {source="Orphanet:330029", source="Orphanet:330029/attributed", source="Orphanet:330029/ntbt"} xref: Orphanet:330029 {source="MONDO:equivalentTo"} xref: UMLS:CN204237 {source="MONDO:equivalentTo"} is_a: MONDO:0017681 {source="Orphanet:330029"} ! erythrokeratoderma variabilis progressiva @@ -347361,7 +347201,7 @@ name: hemoglobin Lepore-beta-thalassemia syndrome subset: ordo_disease {source="Orphanet:330032"} synonym: "HbLepore-beta-thalassemia syndrome" EXACT [Orphanet:330032] synonym: "Lepore-beta-thalassemia syndrome" EXACT [Orphanet:330032] -xref: ICD10CM:D56.8 {source="Orphanet:330032", source="ORDO:330032/attributed", source="ORDO:330032/ntbt"} +xref: ICD10CM:D56.8 {source="Orphanet:330032", source="Orphanet:330032/attributed", source="Orphanet:330032/ntbt"} xref: Orphanet:330032 {source="MONDO:equivalentTo"} xref: UMLS:CN227251 {source="MONDO:equivalentTo"} is_a: MONDO:0017145 {source="Orphanet:330032"} ! beta-thalassemia and related diseases @@ -347377,7 +347217,7 @@ synonym: "M hemoglobinopathy" EXACT [Orphanet:330041] synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971, OMIM:genemap2] synonym: "methemoglobinemia, beta-globin type" RELATED [GARD:0013007] xref: GARD:0013007 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D74.0 {source="ORDO:330041/attributed", source="ORDO:330041/ntbt", source="Orphanet:330041"} +xref: ICD10CM:D74.0 {source="Orphanet:330041/attributed", source="Orphanet:330041/ntbt", source="Orphanet:330041"} xref: MESH:C581942 {source="MONDO:equivalentTo"} xref: OMIM:617971 {source="MONDO:equivalentTo"} xref: Orphanet:330041 {source="MONDO:equivalentTo", source="OMIM:617971"} @@ -347398,7 +347238,7 @@ subset: gard_rare {source="GARD:0009654"} subset: ordo_disease {source="Orphanet:330058"} synonym: "hV" RELATED [GARD:0009654] xref: GARD:0009654 {source="MONDO:equivalentTo"} -xref: ICD10CM:L56.4 {source="Orphanet:330058", source="ORDO:330058/ntbt"} +xref: ICD10CM:L56.4 {source="Orphanet:330058/ntbt", source="Orphanet:330058"} xref: MESH:D006837 {source="MONDO:equivalentTo"} xref: NCIT:C84766 {source="MONDO:equivalentTo"} xref: OMIM:603794 {source="MONDO:superClassOf", source="GARD:0009654"} @@ -347415,7 +347255,7 @@ name: chronic actinic dermatitis subset: ordo_disease {source="Orphanet:330064"} synonym: "actinic reticuloid" EXACT [Orphanet:330064] synonym: "chronic photosensitivity dermatitis" EXACT [Orphanet:330064] -xref: ICD10CM:L57.8 {source="Orphanet:330064", source="ORDO:330064/ntbt"} +xref: ICD10CM:L57.8 {source="Orphanet:330064", source="Orphanet:330064/ntbt"} xref: ICD9:692.73 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:330064 {source="MONDO:equivalentTo"} xref: SCTID:52636001 {source="MONDO:equivalentTo"} @@ -347432,11 +347272,11 @@ subset: gard_rare {source="GARD:0005151"} subset: ordo_malformation_syndrome {source="Orphanet:3305"} synonym: "tetraploidy" EXACT [] xref: GARD:0005151 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.7 {source="ORDO:3305/attributed", source="ORDO:3305/ntbt", source="Orphanet:3305"} -xref: MESH:D057891 {source="MONDO:equivalentTo", source="Orphanet:3305", source="ORDO:3305/e"} +xref: ICD10CM:Q92.7 {source="Orphanet:3305", source="Orphanet:3305/attributed", source="Orphanet:3305/ntbt"} +xref: MESH:D057891 {source="MONDO:equivalentTo", source="Orphanet:3305", source="Orphanet:3305/e"} xref: Orphanet:3305 {source="MONDO:equivalentTo"} xref: SCTID:726363000 {source="MONDO:equivalentTo"} -xref: UMLS:C0333694 {source="Orphanet:3305", source="MONDO:notFoundInDiseaseSubset", source="ORDO:3305/e"} +xref: UMLS:C0333694 {source="Orphanet:3305", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3305/e"} xref: UMLS:C0795884 {source="MONDO:equivalentTo"} is_a: MONDO:0019934 {source="MESH:D057891", source="Orphanet:3305"} ! polyploidy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5151/tetraploidy xsd:anyURI {source="GARD:0005151"} @@ -347460,7 +347300,7 @@ synonym: "non-distal tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "non-telomeric tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "tetrasomy 15q" RELATED [GARD:0005153] xref: GARD:0005153 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="ORDO:3306/attributed", source="ORDO:3306/ntbt", source="Orphanet:3306"} +xref: ICD10CM:Q99.8 {source="Orphanet:3306", source="Orphanet:3306/attributed", source="Orphanet:3306/ntbt"} xref: MESH:C580205 {source="MONDO:equivalentTo"} xref: Orphanet:3306 {source="MONDO:equivalentTo", source="GARD:0005153"} xref: SCTID:723332005 {source="MONDO:equivalentTo"} @@ -347478,7 +347318,7 @@ def: "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotyp subset: ordo_malformation_syndrome {source="Orphanet:3309"} synonym: "Isochromosome 5p" EXACT [Orphanet:3309] synonym: "tetrasomy type 5p" EXACT [MONDORULE:4, Orphanet:3309] -xref: ICD10CM:Q99.8 {source="ORDO:3309/attributed", source="ORDO:3309/ntbt", source="Orphanet:3309"} +xref: ICD10CM:Q99.8 {source="Orphanet:3309", source="Orphanet:3309/attributed", source="Orphanet:3309/ntbt"} xref: Orphanet:3309 {source="MONDO:equivalentTo"} xref: SCTID:766755003 {source="MONDO:equivalentTo"} is_a: MONDO:0016942 {source="Orphanet:3309", source="Orphanet:3309/inferred"} ! partial trisomy/tetrasomy of the short arm of chromosome 5 @@ -347499,13 +347339,13 @@ synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331] synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211] xref: DOID:2211 {source="MONDO:equivalentTo"} xref: GARD:0010766 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D68.2 {source="ORDO:331/attributed", source="ORDO:331/ntbt", source="Orphanet:331"} +xref: ICD10CM:D68.2 {source="Orphanet:331/attributed", source="Orphanet:331/ntbt", source="Orphanet:331"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D005177 {source="DOID:2211", source="MONDO:equivalentTo"} xref: NCIT:C131633 {source="MONDO:equivalentTo"} xref: NCIT:C98941 {source="DOID:2211"} -xref: OMIM:613225 {source="ORDO:331/btnt", source="DOID:2211", source="MONDO:superClassOf", source="Orphanet:331"} -xref: OMIM:613235 {source="ORDO:331/btnt", source="DOID:2211", source="MONDO:superClassOf", source="Orphanet:331"} +xref: OMIM:613225 {source="DOID:2211", source="MONDO:superClassOf", source="Orphanet:331/btnt", source="Orphanet:331"} +xref: OMIM:613235 {source="DOID:2211", source="MONDO:superClassOf", source="Orphanet:331/btnt", source="Orphanet:331"} xref: Orphanet:331 {source="MONDO:equivalentTo"} xref: SCTID:18604004 {source="DOID:2211"} xref: SCTID:50189006 {source="DOID:2211", source="MONDO:equivalentTo"} @@ -347528,11 +347368,11 @@ synonym: "Mosaic tetrasomy 9p" RELATED [GARD:0000042] synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042] synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310] xref: GARD:0000042 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="Orphanet:3310", source="ORDO:3310/attributed", source="ORDO:3310/ntbt"} -xref: MESH:C538027 {source="Orphanet:3310", source="ORDO:3310/e", source="MONDO:equivalentTo"} +xref: ICD10CM:Q99.8 {source="Orphanet:3310", source="Orphanet:3310/attributed", source="Orphanet:3310/ntbt"} +xref: MESH:C538027 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"} xref: Orphanet:3310 {source="MONDO:equivalentTo"} xref: SCTID:715530004 {source="MONDO:equivalentTo"} -xref: UMLS:C0795832 {source="Orphanet:3310", source="ORDO:3310/e", source="MONDO:equivalentTo"} +xref: UMLS:C0795832 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"} is_a: MONDO:0700043 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 relationship: disease_arises_from_structure CHR:9606-chr9p {source="https://orcid.org/0000-0002-4142-7153"} ! 9p (Human) relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3492 @@ -347545,12 +347385,12 @@ def: "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a f subset: ordo_disease {source="Orphanet:33111"} synonym: "granulomatous slack skin" EXACT [] xref: GARD:0010986 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C84.0 {source="ORDO:33111/ntbt", source="Orphanet:33111", source="MONDO:directSiblingOf"} +xref: ICD10CM:C84.0 {source="Orphanet:33111/ntbt", source="Orphanet:33111", source="MONDO:directSiblingOf"} xref: NCIT:C35464 {source="MONDO:equivalentTo"} xref: Orphanet:33111 {source="MONDO:equivalentTo"} xref: SCTID:277796003 {source="MONDO:equivalentTo"} -xref: UMLS:C0376407 {source="MONDO:equivalentTo", source="ORDO:33111/e", source="Orphanet:33111"} -xref: UMLS:C0457002 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:33111/e", source="Orphanet:33111"} +xref: UMLS:C0376407 {source="Orphanet:33111/e", source="MONDO:equivalentTo", source="Orphanet:33111"} +xref: UMLS:C0457002 {source="Orphanet:33111/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:33111"} is_a: MONDO:0015821 {source="Orphanet:33111", source="indirect"} ! mycosis fungoides and variants is_a: MONDO:0045071 {source="NCIT:C35464"} ! mycosis fungoides variant @@ -347584,13 +347424,13 @@ synonym: "fetal thalidomide syndrome" EXACT [Orphanet:3312] synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082] synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082] xref: GARD:0002313 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q86.8 {source="Orphanet:3312", source="ORDO:3312/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:3312", source="Orphanet:3312/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071249 {source="Orphanet:3312", source="ORDO:3312/e"} +xref: MedDRA:10071249 {source="Orphanet:3312", source="Orphanet:3312/e"} xref: NCIT:C99082 {source="MONDO:equivalentTo"} xref: Orphanet:3312 {source="MONDO:equivalentTo"} xref: SCTID:36193003 {source="MONDO:equivalentTo"} -xref: UMLS:C0432365 {source="NCIT:C99082", source="Orphanet:3312", source="ORDO:3312/e", source="MONDO:equivalentTo"} +xref: UMLS:C0432365 {source="NCIT:C99082", source="Orphanet:3312", source="MONDO:equivalentTo", source="Orphanet:3312/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99082", source="indirect"} ! syndromic disease is_a: MONDO:0016677 {source="Orphanet:3312"} ! toxic or drug-related embryofetopathy is_a: MONDO:0018234 ! dysostosis @@ -347613,7 +347453,7 @@ id: MONDO:0018036 name: obsolete immunodeficiency due to absence of thymus comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:331220"} -xref: ICD10CM:D81.4 {source="Orphanet:331220", source="ORDO:331220/attributed", source="ORDO:331220/ntbt"} +xref: ICD10CM:D81.4 {source="Orphanet:331220", source="Orphanet:331220/attributed", source="Orphanet:331220/ntbt"} xref: Orphanet:331220 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -347632,7 +347472,7 @@ synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956] synonym: "hyperimmunoglobulin E syndrome" EXACT [GARD:0010956, NCIT:C3144] xref: DOID:0080545 {source="MONDO:equivalentTo"} xref: GARD:0010956 {source="MONDO:equivalentTo"} -xref: ICD10CM:D82.4 {source="ORDO:331223/e", source="ORDO:331223/specific", source="Orphanet:331223"} +xref: ICD10CM:D82.4 {source="Orphanet:331223", source="Orphanet:331223/specific", source="Orphanet:331223/e"} xref: NCIT:C3144 {source="MONDO:equivalentTo"} xref: OMIM:147060 {source="MONDO:superClassOf", source="GARD:0010956"} xref: OMIM:243700 {source="MONDO:superClassOf", source="GARD:0010956"} @@ -347663,7 +347503,7 @@ synonym: "selective immunoglobulin M deficiency" EXACT [Orphanet:331235] synonym: "SIgMD" RELATED [GARD:0012547] xref: DOID:0050222 {source="MONDO:equivalentTo"} xref: GARD:0012547 {source="MONDO:equivalentTo"} -xref: ICD10CM:D80.4 {source="ORDO:331235/specific", source="Orphanet:331235", source="ORDO:331235/e"} +xref: ICD10CM:D80.4 {source="Orphanet:331235", source="Orphanet:331235/e", source="Orphanet:331235/specific"} xref: ICD9:279.02 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:331235 {source="MONDO:equivalentTo"} xref: SCTID:190980000 {source="MONDO:equivalentTo"} @@ -347692,7 +347532,7 @@ xref: UMLS:CN204282 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:D80.8 {source="ORDO:331244/specific", source="Orphanet:331244", source="ORDO:331244/e"} +consider: ICD10CM:D80.8 {source="Orphanet:331244", source="Orphanet:331244/e", source="Orphanet:331244/specific"} [Term] id: MONDO:0018042 @@ -347714,11 +347554,11 @@ def: "Thomas syndrome is characterised by renal anomalies, cardiac malformations subset: ordo_malformation_syndrome {source="Orphanet:3316"} synonym: "Potter sequence-cleft lip/palate-cardiopathy syndrome" EXACT [Orphanet:3316] xref: GARD:0005175 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:3316/attributed", source="ORDO:3316/ntbt", source="Orphanet:3316"} -xref: MESH:C536514 {source="MONDO:equivalentTo", source="Orphanet:3316", source="ORDO:3316/e"} +xref: ICD10CM:Q87.8 {source="Orphanet:3316", source="Orphanet:3316/attributed", source="Orphanet:3316/ntbt"} +xref: MESH:C536514 {source="MONDO:equivalentTo", source="Orphanet:3316", source="Orphanet:3316/e"} xref: Orphanet:3316 {source="MONDO:equivalentTo"} xref: SCTID:716740009 {source="MONDO:equivalentTo"} -xref: UMLS:C2931225 {source="MONDO:equivalentTo", source="Orphanet:3316", source="ORDO:3316/e"} +xref: UMLS:C2931225 {source="MONDO:equivalentTo", source="Orphanet:3316", source="Orphanet:3316/e"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015161 {source="Orphanet:3316", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015335 {source="Orphanet:3316"} ! orofacial clefting syndrome @@ -347734,7 +347574,7 @@ subset: ordo_disease {source="Orphanet:33208"} synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737] synonym: "primary hypersomnia" EXACT [Orphanet:33208] xref: GARD:0008737 {source="MONDO:equivalentTo"} -xref: ICD10CM:F51.1 {source="ORDO:33208/e", source="Orphanet:33208"} +xref: ICD10CM:F51.1 {source="Orphanet:33208", source="Orphanet:33208/e"} xref: MESH:D020177 {source="MONDO:equivalentTo"} xref: NCIT:C116343 {source="MONDO:equivalentTo"} xref: Orphanet:33208 {source="MONDO:equivalentTo"} @@ -347757,17 +347597,17 @@ synonym: "Growth retardation prenatal with progressive pancytopenia and cerebell synonym: "Hoyeraal Hreidarsson syndrome" RELATED [GARD:0000346] synonym: "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" EXACT [Orphanet:3322] xref: GARD:0000346 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:3322", source="ORDO:3322/attributed", source="ORDO:3322/ntbt"} -xref: MESH:C536068 {source="ORDO:3322/e", source="Orphanet:3322", source="MONDO:equivalentTo"} -xref: OMIM:305000 {source="MONDO:subClassOf", source="Orphanet:3322", source="ORDO:3322/ntbt"} -xref: OMIM:613989 {source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf", source="ORDO:3322/btnt"} -xref: OMIM:613990 {source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf", source="ORDO:3322/btnt"} -xref: OMIM:615190 {source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf", source="ORDO:3322/btnt"} -xref: OMIM:616353 {source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf", source="ORDO:3322/btnt"} -xref: OMIM:616553 {source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf", source="ORDO:3322/btnt"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:3322/attributed", source="Orphanet:3322/ntbt", source="Orphanet:3322"} +xref: MESH:C536068 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"} +xref: OMIM:305000 {source="MONDO:subClassOf", source="Orphanet:3322/ntbt", source="Orphanet:3322"} +xref: OMIM:613989 {source="Orphanet:3322/btnt", source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf"} +xref: OMIM:613990 {source="Orphanet:3322/btnt", source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf"} +xref: OMIM:615190 {source="Orphanet:3322/btnt", source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf"} +xref: OMIM:616353 {source="Orphanet:3322/btnt", source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf"} +xref: OMIM:616553 {source="Orphanet:3322/btnt", source="MONDO:relatedTo", source="Orphanet:3322", source="MONDO:superClassOf"} xref: Orphanet:3322 {source="MONDO:equivalentTo"} xref: SCTID:707276009 {source="MONDO:equivalentTo"} -xref: UMLS:C1846142 {source="ORDO:3322/e", source="Orphanet:3322", source="MONDO:equivalentTo"} +xref: UMLS:C1846142 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"} is_a: MONDO:0010584 ! dyskeratosis congenita, X-linked is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation @@ -347783,9 +347623,9 @@ synonym: "Braddock-Carey syndrome" EXACT [Orphanet:3323] synonym: "congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay" RELATED [GARD:0005193] synonym: "thrombocytopenia Robin sequence" RELATED [GARD:0005193] xref: GARD:0005193 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: MESH:C536898 {source="Orphanet:3323", source="ORDO:3323/e", source="MONDO:equivalentTo"} +xref: MESH:C536898 {source="Orphanet:3323", source="MONDO:equivalentTo", source="Orphanet:3323/e"} xref: Orphanet:3323 {source="MONDO:equivalentTo"} -xref: UMLS:C2931364 {source="Orphanet:3323", source="ORDO:3323/e", source="MONDO:equivalentTo"} +xref: UMLS:C2931364 {source="Orphanet:3323", source="MONDO:equivalentTo", source="Orphanet:3323/e"} is_a: MONDO:0015335 {source="Orphanet:3323"} ! orofacial clefting syndrome [Term] @@ -347796,10 +347636,10 @@ subset: ordo_disease {source="Orphanet:3324"} synonym: "thrombomodulin anomalies, familial" RELATED [GARD:0005195] xref: GARD:0005195 {source="MONDO:equivalentTo"} xref: HGNC:11784 {source="GARD:0005195"} -xref: ICD10CM:D68.8 {source="Orphanet:3324", source="ORDO:3324/attributed", source="ORDO:3324/ntbt"} -xref: MESH:C536900 {source="ORDO:3324/e", source="Orphanet:3324", source="MONDO:equivalentTo"} +xref: ICD10CM:D68.8 {source="Orphanet:3324/attributed", source="Orphanet:3324/ntbt", source="Orphanet:3324"} +xref: MESH:C536900 {source="Orphanet:3324", source="MONDO:equivalentTo", source="Orphanet:3324/e"} xref: Orphanet:3324 {source="MONDO:equivalentTo"} -xref: UMLS:C2931365 {source="ORDO:3324/e", source="Orphanet:3324", source="MONDO:equivalentTo"} +xref: UMLS:C2931365 {source="Orphanet:3324", source="MONDO:equivalentTo", source="Orphanet:3324/e"} is_a: MONDO:0021181 {source="MONDO:0016633-obsoleted"} ! inherited blood coagulation disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial xsd:anyURI {source="GARD:0005195"} @@ -347816,12 +347656,12 @@ synonym: "heparin-induced thrombocytopenia type 2" EXACT [Orphanet:3325] synonym: "HIT" EXACT ABBREVIATION [Orphanet:3325] xref: GARD:0002650 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011874 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D69.5 {source="Orphanet:3325", source="ORDO:3325/ntbt"} +xref: ICD10CM:D69.5 {source="Orphanet:3325/ntbt", source="Orphanet:3325"} xref: ICD9:289.84 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10062506 {source="Orphanet:3325", source="ORDO:3325/e"} +xref: MedDRA:10062506 {source="Orphanet:3325", source="Orphanet:3325/e"} xref: Orphanet:3325 {source="MONDO:equivalentTo"} xref: SCTID:73397007 {source="MONDO:equivalentTo"} -xref: UMLS:C0272285 {source="Orphanet:3325", source="ORDO:3325/e", source="MONDO:equivalentTo"} +xref: UMLS:C0272285 {source="Orphanet:3325", source="MONDO:equivalentTo", source="Orphanet:3325/e"} is_a: MONDO:0000831 {source="Orphanet:3325"} ! thrombotic disease property_value: IAO:0000589 "heparin-induced thrombocytopenia (disease)" xsd:string @@ -347851,10 +347691,10 @@ synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [GARD:000 synonym: "tibial hemimelia with split hand/foot malformation" EXACT [Orphanet:3329] synonym: "tibial hemimelia-ectrodactyly syndrome" EXACT [Orphanet:3329] xref: GARD:0001369 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="ORDO:3329/attributed", source="ORDO:3329/ntbt", source="Orphanet:3329"} -xref: OMIM:119100 {source="ORDO:3329/btnt", source="GARD:0001369", source="MONDO:superClassOf", source="Orphanet:3329"} -xref: OMIM:610685 {source="ORDO:3329/btnt", source="MONDO:superClassOf", source="Orphanet:3329"} -xref: OMIM:612576 {source="ORDO:3329/btnt", source="MONDO:superClassOf", source="Orphanet:3329"} +xref: ICD10CM:Q73.8 {source="Orphanet:3329", source="Orphanet:3329/attributed", source="Orphanet:3329/ntbt"} +xref: OMIM:119100 {source="GARD:0001369", source="MONDO:superClassOf", source="Orphanet:3329", source="Orphanet:3329/btnt"} +xref: OMIM:610685 {source="MONDO:superClassOf", source="Orphanet:3329", source="Orphanet:3329/btnt"} +xref: OMIM:612576 {source="MONDO:superClassOf", source="Orphanet:3329", source="Orphanet:3329/btnt"} xref: Orphanet:3329 {source="MONDO:equivalentTo", source="GARD:0001369"} xref: UMLS:C1861553 {source="GARD:0001369", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3329"} is_a: MONDO:0015335 {source="Orphanet:3329"} ! orofacial clefting syndrome @@ -347876,7 +347716,7 @@ synonym: "Jessner-Kanof lymphocytic infiltration of the skin" EXACT [Orphanet:33 synonym: "Jessner-Kanof syndrome" RELATED [GARD:0006940] synonym: "lymphocytic infiltrate of Jessner" RELATED [GARD:0006940] xref: GARD:0006940 {source="MONDO:equivalentTo"} -xref: ICD10CM:L98.6 {source="Orphanet:33314", source="ORDO:33314/ntbt"} +xref: ICD10CM:L98.6 {source="Orphanet:33314/ntbt", source="Orphanet:33314"} xref: Orphanet:33314 {source="GARD:0006940", source="MONDO:equivalentTo"} xref: UMLS:C0580181 {source="Orphanet:33314", source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder @@ -347889,8 +347729,8 @@ def: "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformat subset: ordo_malformation_syndrome {source="Orphanet:3332"} synonym: "Werner mesomelic syndrome" EXACT [Orphanet:3332] xref: DOID:0111564 {source="MONDO:subClassOf"} -xref: ICD10CM:Q74.8 {source="Orphanet:3332", source="ORDO:3332/attributed", source="ORDO:3332/ntbt"} -xref: OMIM:188740 {source="MONDO:subClassOf", source="Orphanet:3332", source="ORDO:3332/ntbt"} +xref: ICD10CM:Q74.8 {source="Orphanet:3332", source="Orphanet:3332/attributed", source="Orphanet:3332/ntbt"} +xref: OMIM:188740 {source="MONDO:subClassOf", source="Orphanet:3332", source="Orphanet:3332/ntbt"} xref: Orphanet:3332 {source="MONDO:equivalentTo"} xref: SCTID:716741008 {source="MONDO:equivalentTo"} xref: UMLS:CN204341 {source="MONDO:equivalentTo"} @@ -347906,22 +347746,22 @@ def: "Trichothiodystrophy or TTD is a heterogeneous group disorders characterize subset: ordo_disease {source="Orphanet:33364"} synonym: "trichothiodystrophy syndrome" EXACT [NCIT:C4924] xref: GARD:0012109 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L67.8 {source="ORDO:33364/attributed", source="ORDO:33364/ntbt", source="Orphanet:33364"} -xref: MedDRA:10044628 {source="ORDO:33364/e", source="Orphanet:33364"} -xref: MESH:C536559 {source="ORDO:33364/e", source="Orphanet:33364"} -xref: MESH:D054463 {source="ORDO:33364/e", source="Orphanet:33364"} +xref: ICD10CM:L67.8 {source="Orphanet:33364/attributed", source="Orphanet:33364/ntbt", source="Orphanet:33364"} +xref: MedDRA:10044628 {source="Orphanet:33364/e", source="Orphanet:33364"} +xref: MESH:C536559 {source="Orphanet:33364/e", source="Orphanet:33364"} +xref: MESH:D054463 {source="Orphanet:33364/e", source="Orphanet:33364"} xref: NCIT:C4924 {source="MONDO:equivalentTo"} -xref: OMIM:234050 {source="ORDO:33364/btnt", source="MONDO:superClassOf", source="Orphanet:33364"} -xref: OMIM:300953 {source="ORDO:33364/btnt", source="MONDO:superClassOf", source="Orphanet:33364"} -xref: OMIM:601675 {source="ORDO:33364/btnt", source="MONDO:superClassOf", source="Orphanet:33364"} -xref: OMIM:616390 {source="ORDO:33364/btnt", source="MONDO:superClassOf", source="Orphanet:33364"} -xref: OMIM:616395 {source="ORDO:33364/btnt", source="MONDO:superClassOf", source="Orphanet:33364"} -xref: OMIM:616943 {source="ORDO:33364/btnt", source="MONDO:superClassOf", source="Orphanet:33364"} +xref: OMIM:234050 {source="MONDO:superClassOf", source="Orphanet:33364/btnt", source="Orphanet:33364"} +xref: OMIM:300953 {source="MONDO:superClassOf", source="Orphanet:33364/btnt", source="Orphanet:33364"} +xref: OMIM:601675 {source="MONDO:superClassOf", source="Orphanet:33364/btnt", source="Orphanet:33364"} +xref: OMIM:616390 {source="MONDO:superClassOf", source="Orphanet:33364/btnt", source="Orphanet:33364"} +xref: OMIM:616395 {source="MONDO:superClassOf", source="Orphanet:33364/btnt", source="Orphanet:33364"} +xref: OMIM:616943 {source="MONDO:superClassOf", source="Orphanet:33364/btnt", source="Orphanet:33364"} xref: OMIMPS:601675 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:33364 {source="MONDO:equivalentTo"} xref: SCTID:723551003 {source="MONDO:equivalentTo"} -xref: UMLS:C0740342 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:33364/e", source="Orphanet:33364"} -xref: UMLS:C1955934 {source="MONDO:equivalentTo", source="ORDO:33364/e", source="Orphanet:33364", source="NCIT:C4924"} +xref: UMLS:C0740342 {source="Orphanet:33364/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:33364"} +xref: UMLS:C1955934 {source="Orphanet:33364/e", source="MONDO:equivalentTo", source="Orphanet:33364", source="NCIT:C4924"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C4924", source="indirect"} ! syndromic disease is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C4924", source="Orphanet:33364/inferred"} ! Mendelian disease is_a: MONDO:0005372 ! male infertility @@ -347944,24 +347784,24 @@ synonym: "autosomal dominant atrial fibrillation" RELATED [GARD:0009740] synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:0050650 {source="MONDO:equivalentTo"} xref: GARD:0009740 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I48.9 {source="Orphanet:334", source="ORDO:334/attributed", source="ORDO:334/ntbt"} -xref: OMIM:607554 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:608583 {source="MONDO:superClassOf", source="ORDO:334/e"} -xref: OMIM:608988 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:611493 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:611494 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:611819 {source="MONDO:relatedTo", source="ORDO:334/ntbt"} -xref: OMIM:612201 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:612240 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:613055 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:613120 {source="MONDO:relatedTo", source="ORDO:334/ntbt"} -xref: OMIM:613980 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:614022 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:614049 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:614050 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:615377 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:615378 {source="MONDO:superClassOf", source="ORDO:334/btnt"} -xref: OMIM:615770 {source="MONDO:superClassOf", source="ORDO:334/btnt"} +xref: ICD10CM:I48.9 {source="Orphanet:334", source="Orphanet:334/attributed", source="Orphanet:334/ntbt"} +xref: OMIM:607554 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:608583 {source="MONDO:superClassOf", source="Orphanet:334/e"} +xref: OMIM:608988 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:611493 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:611494 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:611819 {source="MONDO:relatedTo", source="Orphanet:334/ntbt"} +xref: OMIM:612201 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:612240 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:613055 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:613120 {source="MONDO:relatedTo", source="Orphanet:334/ntbt"} +xref: OMIM:613980 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:614022 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:614049 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:614050 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:615377 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:615378 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} +xref: OMIM:615770 {source="Orphanet:334/btnt", source="MONDO:superClassOf"} xref: OMIMPS:608583 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"} xref: SCTID:715395008 {source="MONDO:equivalentTo"} @@ -347993,7 +347833,7 @@ synonym: "pediatric hepatoma" RELATED [GARD:0009331] synonym: "pediatric liver cell carcinoma" RELATED [GARD:0009331] xref: DOID:0070322 {source="MONDO:equivalentTo"} xref: GARD:0009331 {source="DOID:0070322", source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C22.0 {source="Orphanet:33402", source="ORDO:33402/ntbt"} +xref: ICD10CM:C22.0 {source="Orphanet:33402/ntbt", source="Orphanet:33402"} xref: NCIT:C7955 {source="DOID:0070322", source="MONDO:equivalentTo"} xref: Orphanet:33402 {source="DOID:0070322", source="MONDO:equivalentTo"} xref: UMLS:CN204349 {source="MONDO:equivalentTo"} @@ -348006,12 +347846,12 @@ id: MONDO:0018056 name: bullous lichen planus def: "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions." [Orphanet:33408] subset: ordo_disease {source="Orphanet:33408"} -xref: ICD10CM:L43.1 {source="ORDO:33408/e", source="MONDO:equivalentTo", source="Orphanet:33408"} -xref: MedDRA:10056960 {source="ORDO:33408/e", source="Orphanet:33408"} +xref: ICD10CM:L43.1 {source="MONDO:equivalentTo", source="Orphanet:33408", source="Orphanet:33408/e"} +xref: MedDRA:10056960 {source="Orphanet:33408", source="Orphanet:33408/e"} xref: NCIT:C34778 {source="MONDO:equivalentTo"} xref: Orphanet:33408 {source="MONDO:equivalentTo"} xref: SCTID:6111009 {source="MONDO:equivalentTo"} -xref: UMLS:C0023648 {source="ORDO:33408/e", source="MONDO:equivalentTo", source="Orphanet:33408", source="NCIT:C34778"} +xref: UMLS:C0023648 {source="MONDO:equivalentTo", source="Orphanet:33408", source="NCIT:C34778", source="Orphanet:33408/e"} is_a: MONDO:0006572 {source="ICD10CM:L43.1", source="MONDO:Redundant", source="NCIT:C34778", source="indirect", source="linkedlifedata"} ! lichen planus [Term] @@ -348030,12 +347870,12 @@ synonym: "congenital absence of trachea" EXACT [NCIT:C35376] synonym: "congenital tracheal agenesis" RELATED [GARD:0005233] synonym: "tracheal absence" EXACT [NCIT:C35376] xref: GARD:0005233 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q32.1 {source="Orphanet:3346", source="ORDO:3346/ntbt"} -xref: MESH:C536975 {source="ORDO:3346/e", source="Orphanet:3346", source="MONDO:equivalentTo"} +xref: ICD10CM:Q32.1 {source="Orphanet:3346/ntbt", source="Orphanet:3346"} +xref: MESH:C536975 {source="Orphanet:3346", source="MONDO:equivalentTo", source="Orphanet:3346/e"} xref: NCIT:C35376 {source="MONDO:equivalentTo"} xref: Orphanet:3346 {source="MONDO:equivalentTo"} xref: SCTID:3987009 {source="MONDO:equivalentTo"} -xref: UMLS:C1261567 {source="ORDO:3346/e", source="Orphanet:3346", source="MONDO:equivalentTo", source="NCIT:C35376"} +xref: UMLS:C1261567 {source="Orphanet:3346", source="MONDO:equivalentTo", source="NCIT:C35376", source="Orphanet:3346/e"} is_a: MONDO:0015221 {source="Orphanet:3346"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015505 {source="Orphanet:3346"} ! tracheal anomaly is_a: MONDO:0015930 {source="Orphanet:3346"} ! respiratory malformation @@ -348050,15 +347890,15 @@ xref: DOID:0080176 {source="MONDO:equivalentTo"} xref: DOID:9929 {source="EFO:1001040"} xref: EFO:1001040 {source="MONDO:equivalentTo"} xref: ICD10CM:A39.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="EFO:1001040"} -xref: ICD10EXP:A39.0+ {source="ORDO:33475/e", source="Orphanet:33475"} -xref: ICD10EXP:G01* {source="ORDO:33475/e", source="Orphanet:33475"} +xref: ICD10EXP:A39.0+ {source="Orphanet:33475/e", source="Orphanet:33475"} +xref: ICD10EXP:G01* {source="Orphanet:33475/e", source="Orphanet:33475"} xref: ICD9:036.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="i2s", source="EFO:1001040"} -xref: MedDRA:10027249 {source="ORDO:33475/e", source="Orphanet:33475"} +xref: MedDRA:10027249 {source="Orphanet:33475/e", source="Orphanet:33475"} xref: MedDRA:10027276 {source="EFO:1001040"} -xref: MESH:D008585 {source="DOID:0080176", source="MONDO:equivalentTo", source="ORDO:33475/e", source="EFO:1001040", source="Orphanet:33475"} +xref: MESH:D008585 {source="DOID:0080176", source="Orphanet:33475/e", source="MONDO:equivalentTo", source="EFO:1001040", source="Orphanet:33475"} xref: Orphanet:33475 {source="MONDO:equivalentTo"} xref: SCTID:192644005 {source="MONDO:equivalentTo", source="EFO:1001040"} -xref: UMLS:C0025294 {source="MONDO:equivalentTo", source="ORDO:33475/e", source="Orphanet:33475"} +xref: UMLS:C0025294 {source="Orphanet:33475/e", source="MONDO:equivalentTo", source="Orphanet:33475"} is_a: MONDO:0006670 {source="DOID:0080176", source="MESH:D008585", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:33475", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disorder of the nervous system @@ -348071,9 +347911,9 @@ subset: ordo_disease {source="Orphanet:335"} synonym: "congenital fibrinogen deficiency" EXACT CLINGEN_PREFERRED [] synonym: "fibrinogen deficiency, congenital" RELATED [GARD:0002320] xref: GARD:0002320 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="Orphanet:335", source="ORDO:335/attributed", source="ORDO:335/ntbt"} -xref: OMIM:202400 {source="Orphanet:335", source="MONDO:superClassOf", source="ORDO:335/btnt"} -xref: OMIM:616004 {source="Orphanet:335", source="MONDO:superClassOf", source="ORDO:335/btnt"} +xref: ICD10CM:D68.2 {source="Orphanet:335", source="Orphanet:335/attributed", source="Orphanet:335/ntbt"} +xref: OMIM:202400 {source="Orphanet:335", source="Orphanet:335/btnt", source="MONDO:superClassOf"} +xref: OMIM:616004 {source="Orphanet:335", source="Orphanet:335/btnt", source="MONDO:superClassOf"} xref: Orphanet:335 {source="MONDO:equivalentTo"} xref: UMLS:C2062367 {source="GARD:0002320", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease @@ -348130,14 +347970,14 @@ synonym: "Weber-Christian panniculitis" EXACT [Orphanet:33577] xref: DOID:1525 {source="MONDO:equivalentTo", source="EFO:1000742"} xref: EFO:1000742 {source="MONDO:equivalentTo"} xref: GARD:0007879 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M35.6 {source="Orphanet:33577", source="DOID:1525", source="ORDO:33577/e"} -xref: MedDRA:10047883 {source="Orphanet:33577", source="ORDO:33577/e"} -xref: MESH:D010201 {source="Orphanet:33577", source="MONDO:equivalentTo", source="DOID:1525", source="ORDO:33577/e"} +xref: ICD10CM:M35.6 {source="Orphanet:33577", source="Orphanet:33577/e", source="DOID:1525"} +xref: MedDRA:10047883 {source="Orphanet:33577", source="Orphanet:33577/e"} +xref: MESH:D010201 {source="Orphanet:33577", source="MONDO:equivalentTo", source="Orphanet:33577/e", source="DOID:1525"} xref: Orphanet:33577 {source="MONDO:equivalentTo"} xref: SCTID:203120002 {source="DOID:1525"} xref: SCTID:203121003 {source="DOID:1525"} xref: SCTID:33760009 {source="MONDO:equivalentTo", source="DOID:1525"} -xref: UMLS:C0030328 {source="Orphanet:33577", source="MONDO:equivalentTo", source="DOID:1525", source="ORDO:33577/e"} +xref: UMLS:C0030328 {source="Orphanet:33577", source="MONDO:equivalentTo", source="Orphanet:33577/e", source="DOID:1525"} is_a: MONDO:0006591 {source="DOID:1525", source="EFO:1000742", source="MESH:D010201", source="linkedlifedata", source="linkedlifedata/inferred"} ! panniculitis is_a: MONDO:0019296 {source="Orphanet:33577"} ! subcutaneous tissue disorder @@ -348149,7 +347989,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3365"} synonym: "Hunter Rudd Hoffmann syndrome" RELATED [GARD:0002756] synonym: "Hunter-Rudd-Hoffmann syndrome" EXACT [Orphanet:3365] xref: GARD:0002756 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="Orphanet:3365", source="ORDO:3365/attributed", source="ORDO:3365/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:3365", source="Orphanet:3365/attributed", source="Orphanet:3365/ntbt"} xref: Orphanet:3365 {source="MONDO:equivalentTo"} xref: SCTID:719949001 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:3365"} ! syndromic craniosynostosis @@ -348161,9 +348001,9 @@ def: "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis charact subset: ordo_morphological_anomaly {source="Orphanet:3366"} synonym: "non-syndromic metopic craniosynostosis" EXACT [Orphanet:3366] synonym: "nonsyndromic trigonocephaly" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:3366", source="ORDO:3366/inclusion", source="ORDO:3366/ntbt"} -xref: OMIM:190440 {source="Orphanet:3366", source="MONDO:superClassOf", source="ORDO:3366/btnt"} -xref: OMIM:614485 {source="Orphanet:3366", source="MONDO:superClassOf", source="ORDO:3366/btnt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:3366/ntbt", source="Orphanet:3366", source="Orphanet:3366/inclusion"} +xref: OMIM:190440 {source="Orphanet:3366/btnt", source="Orphanet:3366", source="MONDO:superClassOf"} +xref: OMIM:614485 {source="Orphanet:3366/btnt", source="Orphanet:3366", source="MONDO:superClassOf"} xref: OMIMPS:190440 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="MONDO:equivalentTo"} xref: UMLS:C0265535 {source="Orphanet:3366", source="MONDO:notFoundInDiseaseSubset"} @@ -348194,13 +348034,13 @@ synonym: "trisomy type X" EXACT [MONDORULE:1, Orphanet:3375] synonym: "trisomy X" EXACT [GARD:0005672] synonym: "XXX syndrome" EXACT [GARD:0005672, Orphanet:3375] xref: GARD:0005672 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q97.0 {source="Orphanet:3375", source="ORDO:3375/specific", source="ORDO:3375/e"} +xref: ICD10CM:Q97.0 {source="Orphanet:3375", source="Orphanet:3375/e", source="Orphanet:3375/specific"} xref: MESH:C535318 {source="MONDO:equivalentTo"} -xref: MESH:D014314 {source="Orphanet:3375", source="ORDO:3375/e"} +xref: MESH:D014314 {source="Orphanet:3375", source="Orphanet:3375/e"} xref: NCIT:C129718 {source="MONDO:equivalentTo"} xref: Orphanet:3375 {source="MONDO:equivalentTo", source="GARD:0005672"} xref: SCTID:35111009 {source="MONDO:equivalentTo"} -xref: UMLS:C0221033 {source="Orphanet:3375", source="MONDO:equivalentTo", source="GARD:0005672", source="ORDO:3375/e", source="NCIT:C129718"} +xref: UMLS:C0221033 {source="Orphanet:3375", source="MONDO:equivalentTo", source="Orphanet:3375/e", source="GARD:0005672", source="NCIT:C129718"} is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C129718"} ! syndromic disease is_a: MONDO:0019852 {source="Orphanet:3375"} ! inherited primary ovarian failure is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy @@ -348217,13 +348057,13 @@ synonym: "chromosome triploidy syndrome" RELATED [GARD:0005295] synonym: "triploid syndrome" RELATED [GARD:0005295] synonym: "triploidy syndrome" RELATED [GARD:0005295] xref: GARD:0005295 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.7 {source="Orphanet:3376", source="ORDO:3376/attributed", source="ORDO:3376/ntbt"} +xref: ICD10CM:Q92.7 {source="Orphanet:3376", source="Orphanet:3376/attributed", source="Orphanet:3376/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D057885 {source="Orphanet:3376", source="ORDO:3376/e", source="MONDO:equivalentTo"} +xref: MESH:D057885 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"} xref: NCIT:C85204 {source="MONDO:equivalentTo"} xref: Orphanet:3376 {source="MONDO:equivalentTo"} xref: SCTID:66651005 {source="MONDO:equivalentTo"} -xref: UMLS:C0333693 {source="Orphanet:3376", source="ORDO:3376/e", source="MONDO:equivalentTo"} +xref: UMLS:C0333693 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"} is_a: MONDO:0016565 {source="Orphanet:3376"} ! syndromic genetic obesity is_a: MONDO:0019934 {source="MESH:D057885", source="Orphanet:3376", source="linkedlifedata"} ! polyploidy relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3376"} ! obsolete chromosomal anomaly with cataract @@ -348244,12 +348084,12 @@ synonym: "trisomy 13" EXACT [DOID:11665] synonym: "trisomy type 13" EXACT [MONDORULE:2, Orphanet:3378] xref: DOID:11665 {source="MONDO:equivalentTo"} xref: GARD:0007341 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q91.4 {source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"} -xref: ICD10CM:Q91.5 {source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"} -xref: ICD10CM:Q91.6 {source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"} -xref: ICD10CM:Q91.7 {source="DOID:11665", source="ORDO:3378/specific", source="Orphanet:3378", source="ORDO:3378/btnt"} +xref: ICD10CM:Q91.4 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} +xref: ICD10CM:Q91.5 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} +xref: ICD10CM:Q91.6 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} +xref: ICD10CM:Q91.7 {source="DOID:11665", source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} xref: ICD9:758.1 {source="DOID:11665", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10044686 {source="Orphanet:3378", source="ORDO:3378/e"} +xref: MedDRA:10044686 {source="Orphanet:3378", source="Orphanet:3378/e"} xref: MESH:C536305 {source="DOID:11665", source="MONDO:equivalentTo"} xref: NCIT:C101223 {source="DOID:11665", source="MONDO:equivalentTo"} xref: NCIT:C36529 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:preferredExternal"} @@ -348262,7 +348102,7 @@ xref: SCTID:254267009 {source="DOID:11665"} xref: SCTID:268344000 {source="DOID:11665"} xref: SCTID:268357008 {source="DOID:11665"} xref: UMLS:C0152095 {source="DOID:11665", source="Orphanet:3378", source="MONDO:equivalentTo", source="NCIT:C101223"} -xref: UMLS:C2936830 {source="Orphanet:3378", source="ORDO:3378/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2936830 {source="Orphanet:3378", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3378/e"} xref: UMLS:CN204386 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C101223"} ! syndromic disease is_a: MONDO:0015216 {source="Orphanet:3378"} ! syndromic diaphragmatic or abdominal wall malformation @@ -348286,10 +348126,10 @@ synonym: "distal duplication 17q" EXACT [Orphanet:3379] synonym: "distal trisomy type 17q" EXACT [MONDORULE:4, Orphanet:3379] synonym: "telomeric duplication 17q" EXACT [Orphanet:3379] synonym: "trisomy 17qter" EXACT [Orphanet:3379] -xref: MESH:C536579 {source="ORDO:3379/e", source="Orphanet:3379"} +xref: MESH:C536579 {source="Orphanet:3379", source="Orphanet:3379/e"} xref: Orphanet:3379 {source="MONDO:equivalentTo"} xref: SCTID:766051001 {source="MONDO:equivalentTo"} -xref: UMLS:C2931247 {source="ORDO:3379/e", source="Orphanet:3379", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931247 {source="Orphanet:3379", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3379/e"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0016967 {source="Orphanet:3379"} ! partial duplication of the long arm of chromosome 17 relationship: disease_arises_from_structure CHR:9606-chr17q {source="https://orcid.org/0000-0002-4142-7153"} ! 17q (Human) @@ -348328,12 +348168,12 @@ synonym: "trisomy E (formerly)" RELATED [GARD:0006321] synonym: "trisomy type 18" EXACT [MONDORULE:2, Orphanet:3380] xref: DOID:1085 {source="MONDO:equivalentTo"} xref: GARD:0006321 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q91.0 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific"} -xref: ICD10CM:Q91.1 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific"} -xref: ICD10CM:Q91.2 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific"} -xref: ICD10CM:Q91.3 {source="ORDO:3380/btnt", source="Orphanet:3380", source="ORDO:3380/specific", source="DOID:1085"} +xref: ICD10CM:Q91.0 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} +xref: ICD10CM:Q91.1 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} +xref: ICD10CM:Q91.2 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} +xref: ICD10CM:Q91.3 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380", source="DOID:1085"} xref: ICD9:758.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:1085"} -xref: MedDRA:10053884 {source="ORDO:3380/e", source="Orphanet:3380"} +xref: MedDRA:10053884 {source="Orphanet:3380/e", source="Orphanet:3380"} xref: MESH:C580500 {source="MONDO:equivalentTo", source="DOID:1085"} xref: NCIT:C101362 {source="DOID:1085"} xref: NCIT:C36626 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"} @@ -348342,7 +348182,7 @@ xref: SCTID:157022000 {source="DOID:1085"} xref: SCTID:205626006 {source="DOID:1085"} xref: SCTID:254265001 {source="DOID:1085"} xref: SCTID:51500006 {source="MONDO:equivalentTo", source="DOID:1085"} -xref: UMLS:C0152096 {source="MONDO:equivalentTo", source="ORDO:3380/e", source="Orphanet:3380", source="DOID:1085"} +xref: UMLS:C0152096 {source="Orphanet:3380/e", source="MONDO:equivalentTo", source="Orphanet:3380", source="DOID:1085"} is_a: MONDO:0015216 {source="Orphanet:3380"} ! syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0015246 {source="Orphanet:3380"} ! syndromic anorectal malformation is_a: MONDO:0019040 {source="DOID:1085", source="Orphanet:3380/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal disorder @@ -348368,9 +348208,9 @@ synonym: "persistent truncus arteriosus (disease)" EXACT [https://orcid.org/0000 synonym: "TAC" EXACT ABBREVIATION [Orphanet:3384] synonym: "truncus arteriosus" EXACT [NCIT:C98880] xref: GARD:0007375 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q20.0 {source="ORDO:3384/specific", source="ORDO:3384/e", source="Orphanet:3384"} +xref: ICD10CM:Q20.0 {source="Orphanet:3384/specific", source="Orphanet:3384/e", source="Orphanet:3384"} xref: NCIT:C98880 {source="MONDO:equivalentTo"} -xref: OMIM:217095 {source="MONDO:subClassOf", source="ORDO:3384/ntbt"} +xref: OMIM:217095 {source="MONDO:subClassOf", source="Orphanet:3384/ntbt"} xref: Orphanet:3384 {source="MONDO:equivalentTo"} xref: UMLS:C0041207 {source="NCIT:C98880", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3384"} is_a: MONDO:0005453 {source="NCIT:C98880"} ! congenital heart disease @@ -348422,22 +348262,21 @@ synonym: "TB" RELATED ABBREVIATION [GARD:0007827] synonym: "tuberculosis disease" EXACT [NCIT:C3423] xref: DOID:399 {source="MONDO:equivalentTo"} xref: GARD:0007827 {source="MONDO:equivalentTo"} -xref: ICD10CM:A15-A19 {source="MONDO:equivalentTo"} xref: ICD10CM:A15-A19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:017.92 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:017.94 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:017.96 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10044755 {source="Orphanet:3389", source="ORDO:3389/e"} +xref: MedDRA:10044755 {source="Orphanet:3389", source="Orphanet:3389/e"} xref: MESH:D014375 {source="DOID:399"} -xref: MESH:D014376 {source="Orphanet:3389", source="ORDO:3389/e", source="MONDO:equivalentTo", source="DOID:399"} +xref: MESH:D014376 {source="Orphanet:3389", source="MONDO:equivalentTo", source="Orphanet:3389/e", source="DOID:399"} xref: NCIT:C3423 {source="MONDO:equivalentTo"} -xref: OMIM:607948 {source="Orphanet:3389", source="MONDO:superClassOf", source="ORDO:3389/btnt"} +xref: OMIM:607948 {source="Orphanet:3389", source="Orphanet:3389/btnt", source="MONDO:superClassOf"} xref: Orphanet:3389 {source="MONDO:equivalentTo"} xref: SCTID:15202009 {source="DOID:399"} xref: SCTID:56717001 {source="MONDO:equivalentTo"} xref: UMLS:C0041295 {source="DOID:399"} -xref: UMLS:C0041296 {source="Orphanet:3389", source="ORDO:3389/e", source="MONDO:equivalentTo", source="NCIT:C3423"} +xref: UMLS:C0041296 {source="Orphanet:3389", source="MONDO:equivalentTo", source="Orphanet:3389/e", source="NCIT:C3423"} xref: UMLS:C0151332 {source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:399"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="Orphanet:3389"} ! bacterial infectious disease @@ -348468,17 +348307,17 @@ xref: DOID:2123 {source="MONDO:equivalentTo"} xref: EFO:1001444 {source="MONDO:equivalentTo"} xref: GARD:0000396 {source="MONDO:equivalentTo"} xref: ICD10CM:A21 {source="MONDO:equivalentTo"} -xref: ICD10CM:A21.0 {source="ORDO:3392/btnt", source="MONDO:superClassOf", source="Orphanet:3392"} -xref: ICD10CM:A21.1 {source="ORDO:3392/btnt", source="MONDO:superClassOf", source="Orphanet:3392"} -xref: ICD10CM:A21.2 {source="ORDO:3392/btnt", source="Orphanet:3392"} -xref: ICD10CM:A21.3 {source="ORDO:3392/btnt", source="MONDO:superClassOf", source="Orphanet:3392"} -xref: ICD10CM:A21.7 {source="ORDO:3392/btnt", source="Orphanet:3392"} -xref: ICD10CM:A21.8 {source="ORDO:3392/btnt", source="Orphanet:3392"} -xref: ICD10CM:A21.9 {source="ORDO:3392/btnt", source="Orphanet:3392"} +xref: ICD10CM:A21.0 {source="MONDO:superClassOf", source="Orphanet:3392", source="Orphanet:3392/btnt"} +xref: ICD10CM:A21.1 {source="MONDO:superClassOf", source="Orphanet:3392", source="Orphanet:3392/btnt"} +xref: ICD10CM:A21.2 {source="Orphanet:3392", source="Orphanet:3392/btnt"} +xref: ICD10CM:A21.3 {source="MONDO:superClassOf", source="Orphanet:3392", source="Orphanet:3392/btnt"} +xref: ICD10CM:A21.7 {source="Orphanet:3392", source="Orphanet:3392/btnt"} +xref: ICD10CM:A21.8 {source="Orphanet:3392", source="Orphanet:3392/btnt"} +xref: ICD10CM:A21.9 {source="Orphanet:3392", source="Orphanet:3392/btnt"} xref: ICD9:021.8 {source="DOID:2123"} xref: ICD9:021.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10045146 {source="Orphanet:3392", source="ORDO:3392/e"} -xref: MESH:D014406 {source="DOID:2123", source="MONDO:equivalentTo", source="Orphanet:3392", source="ORDO:3392/e"} +xref: MedDRA:10045146 {source="Orphanet:3392/e", source="Orphanet:3392"} +xref: MESH:D014406 {source="Orphanet:3392/e", source="DOID:2123", source="MONDO:equivalentTo", source="Orphanet:3392"} xref: NCIT:C85208 {source="MONDO:equivalentTo"} xref: Orphanet:3392 {source="MONDO:equivalentTo"} xref: SCTID:111834003 {source="DOID:2123"} @@ -348486,7 +348325,7 @@ xref: SCTID:186298002 {source="DOID:2123"} xref: SCTID:186299005 {source="DOID:2123"} xref: SCTID:19265001 {source="MONDO:equivalentTo"} xref: UMLS:C0029835 {source="DOID:2123", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0041351 {source="NCIT:C85208", source="MONDO:equivalentTo", source="Orphanet:3392", source="ORDO:3392/e"} +xref: UMLS:C0041351 {source="Orphanet:3392/e", source="NCIT:C85208", source="MONDO:equivalentTo", source="Orphanet:3392"} is_a: MONDO:0000314 {source="DOID:2123"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:2123/inferred", source="EFO:1001444", source="MESH:D014406/inferred", source="MONDO:Redundant", source="NCIT:C85208", source="Orphanet:3392", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0100120 {comment="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -348547,13 +348386,13 @@ synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450] synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450] xref: GARD:0005201 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:C37 {source="Orphanet:3398", source="ORDO:3398/ntbt"} -xref: ICD10CM:D15.0 {source="Orphanet:3398", source="ORDO:3398/ntbt", source="MONDO:directSiblingOf"} -xref: MESH:C536905 {source="Orphanet:3398", source="ORDO:3398/e", source="MONDO:equivalentTo"} +xref: ICD10CM:C37 {source="Orphanet:3398", source="Orphanet:3398/ntbt"} +xref: ICD10CM:D15.0 {source="Orphanet:3398", source="Orphanet:3398/ntbt", source="MONDO:directSiblingOf"} +xref: MESH:C536905 {source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"} xref: NCIT:C6450 {source="DesignPattern", source="MONDO:equivalentTo"} xref: ONCOTREE:TET {source="MONDO:equivalentTo"} xref: Orphanet:3398 {source="MONDO:equivalentTo"} -xref: UMLS:C1266101 {source="NCIT:C6450", source="Orphanet:3398", source="ORDO:3398/e", source="MONDO:equivalentTo"} +xref: UMLS:C1266101 {source="NCIT:C6450", source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"} is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C6450", source="ONCOTREE:TET", source="Orphanet:3398"} ! thymus neoplasm is_a: MONDO:0005626 {source="MESH:C536905", source="MONDO:Redundant", source="NCIT:C6450"} ! epithelial neoplasm intersection_of: MONDO:0005626 ! epithelial neoplasm @@ -348583,14 +348422,14 @@ def: "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially subset: ordo_disease {source="Orphanet:340"} synonym: "Hantavirosis" EXACT [Orphanet:340] synonym: "Hantavirus fever" EXACT [Orphanet:340] -xref: ICD10EXP:A98.5+ {source="ORDO:340/e", source="Orphanet:340"} -xref: ICD10EXP:N08.0* {source="ORDO:340/e", source="Orphanet:340"} -xref: MedDRA:10023484 {source="ORDO:340/e", source="Orphanet:340"} -xref: MESH:C535630 {source="MONDO:equivalentTo", source="ORDO:340/e", source="Orphanet:340"} -xref: MESH:D006480 {source="ORDO:340/e", source="Orphanet:340"} +xref: ICD10EXP:A98.5+ {source="Orphanet:340/e", source="Orphanet:340"} +xref: ICD10EXP:N08.0* {source="Orphanet:340/e", source="Orphanet:340"} +xref: MedDRA:10023484 {source="Orphanet:340/e", source="Orphanet:340"} +xref: MESH:C535630 {source="Orphanet:340/e", source="MONDO:equivalentTo", source="Orphanet:340"} +xref: MESH:D006480 {source="Orphanet:340/e", source="Orphanet:340"} xref: Orphanet:340 {source="MONDO:equivalentTo"} -xref: UMLS:C0019101 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:340/e", source="Orphanet:340"} -xref: UMLS:C2930957 {source="MONDO:equivalentTo", source="ORDO:340/e", source="Orphanet:340"} +xref: UMLS:C0019101 {source="Orphanet:340/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:340"} +xref: UMLS:C2930957 {source="Orphanet:340/e", source="MONDO:equivalentTo", source="Orphanet:340"} xref: UMLS:CN204401 {source="MONDO:equivalentTo"} is_a: MONDO:0018087 {source="MESH:C535630/inferred", source="Orphanet:340"} ! viral hemorrhagic fever relationship: disease_has_infectious_agent NCBITaxon:1980442 ! Orthohantavirus @@ -348603,7 +348442,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:3400"} synonym: "aorto-ventricular tunnel" EXACT [MONDO:ambiguous] synonym: "aorto-ventricular tunnel (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0011627 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q20.8 {source="Orphanet:3400", source="ORDO:3400/ntbt"} +xref: ICD10CM:Q20.8 {source="Orphanet:3400", source="Orphanet:3400/ntbt"} xref: Orphanet:3400 {source="MONDO:equivalentTo"} xref: UMLS:CN225932 {source="MONDO:equivalentTo"} is_a: MONDO:0020293 {source="Orphanet:3400"} ! ascending aorta anomaly @@ -348618,7 +348457,7 @@ synonym: "transient neonatal tyrosinemia" EXACT [MONDO:cjm] synonym: "transient tyrosinemia of the neonate" EXACT [Orphanet:3402] synonym: "tyrosine-oxidase temporary deficiency" RELATED [GARD:0005388] xref: GARD:0005388 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:P74.5 {source="ORDO:3402/specific", source="Orphanet:3402", source="ORDO:3402/e"} +xref: ICD10CM:P74.5 {source="Orphanet:3402", source="Orphanet:3402/e", source="Orphanet:3402/specific"} xref: Orphanet:3402 {source="MONDO:equivalentTo"} xref: UMLS:CN204402 {source="MONDO:equivalentTo"} is_a: MONDO:0017307 {source="Orphanet:3402"} ! disorder of tyrosine metabolism @@ -348633,12 +348472,12 @@ subset: ordo_morphological_anomaly {source="Orphanet:3403"} synonym: "parchment right ventricle" RELATED [GARD:0005393] synonym: "Uhl's anomaly" RELATED [GARD:0005393] xref: GARD:0005393 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q24.8 {source="ORDO:3403/ntbt", source="Orphanet:3403"} -xref: MedDRA:10048951 {source="ORDO:3403/e", source="Orphanet:3403"} -xref: MESH:C536932 {source="ORDO:3403/e", source="MONDO:equivalentTo", source="Orphanet:3403"} -xref: OMIM:107970 {source="MONDO:relatedTo", source="ORDO:3403/ntbt", source="Orphanet:3403"} +xref: ICD10CM:Q24.8 {source="Orphanet:3403", source="Orphanet:3403/ntbt"} +xref: MedDRA:10048951 {source="Orphanet:3403", source="Orphanet:3403/e"} +xref: MESH:C536932 {source="MONDO:equivalentTo", source="Orphanet:3403", source="Orphanet:3403/e"} +xref: OMIM:107970 {source="MONDO:relatedTo", source="Orphanet:3403", source="Orphanet:3403/ntbt"} xref: Orphanet:3403 {source="MONDO:equivalentTo"} -xref: UMLS:C0265857 {source="ORDO:3403/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3403"} +xref: UMLS:C0265857 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3403", source="Orphanet:3403/e"} is_a: MONDO:0004994 {source="Orphanet:3403"} ! cardiomyopathy property_value: confidence "0.23456790123456783" xsd:double @@ -348651,9 +348490,9 @@ synonym: "umbilical cord ulcer with intestinal atresia" RELATED [GARD:0005403] synonym: "umbilical cord ulceration and intestinal atresia" RELATED [GARD:0005403] synonym: "umbilical ulceration and intestinal atresia" RELATED [GARD:0005403] xref: GARD:0005403 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: MESH:C536938 {source="MONDO:equivalentTo", source="ORDO:3405/e", source="Orphanet:3405"} +xref: MESH:C536938 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"} xref: Orphanet:3405 {source="MONDO:equivalentTo"} -xref: UMLS:C2931371 {source="MONDO:equivalentTo", source="ORDO:3405/e", source="Orphanet:3405"} +xref: UMLS:C2931371 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"} is_a: MONDO:0015212 {source="Orphanet:3405"} ! syndromic intestinal malformation [Term] @@ -348665,7 +348504,7 @@ subset: ordo_disease {source="Orphanet:3406"} synonym: "keratosis pilaris affecting the follicles of the eyebrow hairs" RELATED [GARD:0005395] synonym: "type of genodermatosis" RELATED [GARD:0005395] xref: GARD:0005395 {source="MONDO:equivalentTo"} -xref: OMIM:604093 {source="MONDO:subClassOf", source="ORDO:3406/ntbt", source="Orphanet:3406"} +xref: OMIM:604093 {source="MONDO:subClassOf", source="Orphanet:3406", source="Orphanet:3406/ntbt"} xref: Orphanet:3406 {source="MONDO:equivalentTo"} xref: UMLS:C0263429 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005395"} is_a: MONDO:0018855 {source="Orphanet:3406"} ! keratosis pilaris atrophicans @@ -348712,17 +348551,17 @@ synonym: "FMF" EXACT ABBREVIATION [Orphanet:342] synonym: "periodic disease" EXACT [Orphanet:342] xref: DOID:2987 {source="MONDO:equivalentTo"} xref: GARD:0006421 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.0 {source="ORDO:342/inclusion", source="ORDO:342/ntbt", source="DOID:2987", source="Orphanet:342"} +xref: ICD10CM:E85.0 {source="DOID:2987", source="Orphanet:342/ntbt", source="Orphanet:342/inclusion", source="Orphanet:342"} xref: ICD9:277.31 {source="MONDO:equivalentTo", source="DOID:2987", source="i2s"} -xref: MedDRA:10016207 {source="ORDO:342/e", source="Orphanet:342"} -xref: MESH:D010505 {source="MONDO:equivalentTo", source="DOID:2987", source="ORDO:342/e", source="Orphanet:342"} +xref: MedDRA:10016207 {source="Orphanet:342/e", source="Orphanet:342"} +xref: MESH:D010505 {source="Orphanet:342/e", source="MONDO:equivalentTo", source="DOID:2987", source="Orphanet:342"} xref: NCIT:C84707 {source="MONDO:equivalentTo", source="DOID:2987"} -xref: OMIM:134610 {source="ORDO:342/btnt", source="MONDO:superClassOf", source="DOID:2987", source="Orphanet:342"} -xref: OMIM:249100 {source="MONDO:superClassOf", source="DOID:2987", source="ORDO:342/e", source="Orphanet:342"} +xref: OMIM:134610 {source="MONDO:superClassOf", source="DOID:2987", source="Orphanet:342/btnt", source="Orphanet:342"} +xref: OMIM:249100 {source="Orphanet:342/e", source="MONDO:superClassOf", source="DOID:2987", source="Orphanet:342"} xref: Orphanet:342 {source="MONDO:equivalentTo", source="DOID:2987"} xref: SCTID:12579009 {source="MONDO:equivalentTo", source="DOID:2987"} -xref: UMLS:C0031069 {source="MONDO:equivalentTo", source="DOID:2987", source="NCIT:C84707", source="ORDO:342/e", source="Orphanet:342"} -xref: UMLS:C0585274 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:342/e", source="Orphanet:342"} +xref: UMLS:C0031069 {source="Orphanet:342/e", source="MONDO:equivalentTo", source="DOID:2987", source="NCIT:C84707", source="Orphanet:342"} +xref: UMLS:C0585274 {source="Orphanet:342/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:342"} is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0017953 {source="MESH:D010505", source="Orphanet:342"} ! hereditary periodic fever syndrome is_a: MONDO:0019724 {source="Orphanet:342"} ! secondary glomerular disease @@ -348742,17 +348581,17 @@ synonym: "double outlet right ventricle with subpulmonary ventricular septal def synonym: "Taussig-Bing syndrome or defect" EXACT EXCLUDE [DOID:6406] xref: DOID:6406 {source="MONDO:equivalentTo"} xref: GARD:0001908 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q20.1 {source="Orphanet:3426", source="ORDO:3426/e", source="ORDO:3426/specific"} -xref: MedDRA:10013611 {source="Orphanet:3426", source="ORDO:3426/e"} -xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="ORDO:3426/e"} +xref: ICD10CM:Q20.1 {source="Orphanet:3426", source="Orphanet:3426/specific", source="Orphanet:3426/e"} +xref: MedDRA:10013611 {source="Orphanet:3426", source="Orphanet:3426/e"} +xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/e"} xref: NCIT:C98916 {source="DOID:6406", source="MONDO:equivalentTo"} -xref: OMIM:217095 {source="MONDO:subClassOf", source="ORDO:3426/ntbt"} +xref: OMIM:217095 {source="MONDO:subClassOf", source="Orphanet:3426/ntbt"} xref: Orphanet:3426 {source="MONDO:equivalentTo"} xref: SCTID:204298001 {source="DOID:6406"} xref: SCTID:204299009 {source="MONDO:equivalentTo"} xref: SCTID:204302009 {source="DOID:6406"} xref: SCTID:7484005 {source="DOID:6406"} -xref: UMLS:C0013069 {source="GARD:0001908", source="NCIT:C98916", source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="ORDO:3426/e", source="OMIM:217095"} +xref: UMLS:C0013069 {source="GARD:0001908", source="NCIT:C98916", source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="OMIM:217095", source="Orphanet:3426/e"} is_a: MONDO:0002070 {source="DOID:6406"} ! ventricular septal defect is_a: MONDO:0016581 {source="Orphanet:3426"} ! conotruncal heart malformations is_a: MONDO:0017131 {source="Orphanet:3426"} ! genetic cardiac anomaly @@ -348770,11 +348609,11 @@ synonym: "Double outlet left ventricle" EXACT [MONDO:ambiguous] synonym: "double outlet left ventricle (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0001907 {source="MONDO:equivalentTo"} xref: HP:0011581 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q20.2 {source="ORDO:3427/e", source="Orphanet:3427"} +xref: ICD10CM:Q20.2 {source="Orphanet:3427", source="Orphanet:3427/e"} xref: ICD9:745.19 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:3427 {source="MONDO:equivalentTo"} xref: SCTID:7368005 {source="MONDO:equivalentTo"} -xref: UMLS:C0265809 {source="GARD:0001907", source="ORDO:3427/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3427"} +xref: UMLS:C0265809 {source="GARD:0001907", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3427", source="Orphanet:3427/e"} is_a: MONDO:0016581 {source="Orphanet:3427"} ! conotruncal heart malformations property_value: IAO:0000589 "double outlet left ventricle (disease)" xsd:string @@ -348789,7 +348628,7 @@ synonym: "microcephaly, short stature, brachydactyly type D, flattened occiput, synonym: "Viljoen Kallis Voges syndrome" RELATED [GARD:0005490] synonym: "Viljoen-Kallis-Voges syndrome" EXACT [Orphanet:3433] xref: GARD:0005490 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:3433", source="ORDO:3433/attributed", source="ORDO:3433/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:3433", source="Orphanet:3433/attributed", source="Orphanet:3433/ntbt"} xref: MESH:C536349 {source="MONDO:equivalentTo"} xref: Orphanet:3433 {source="GARD:0005490", source="MONDO:equivalentTo"} xref: SCTID:719378009 {source="MONDO:equivalentTo"} @@ -348816,9 +348655,9 @@ synonym: "Vogt-Koyanagi syndrome" EXACT [DOID:12297, ICD9CM:364.24] synonym: "Vogt-Koyanagi-Harada syndrome" RELATED [GARD:0007862] xref: DOID:12297 {source="MONDO:equivalentTo"} xref: GARD:0007862 {source="MONDO:equivalentTo"} -xref: ICD10CM:H20.8 {source="ORDO:3437/ntbt", source="Orphanet:3437"} +xref: ICD10CM:H20.8 {source="Orphanet:3437", source="Orphanet:3437/ntbt"} xref: ICD10CM:H20.82 {source="DOID:12297"} -xref: ICD10CM:H30.8 {source="ORDO:3437/ntbt", source="Orphanet:3437"} +xref: ICD10CM:H30.8 {source="Orphanet:3437", source="Orphanet:3437/ntbt"} xref: ICD10CM:H30.81 {source="DOID:12297"} xref: ICD9:363.22 {source="MONDO:equivalentTo", source="i2s", source="DOID:12297"} xref: ICD9:364.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:12297"} @@ -348871,24 +348710,24 @@ synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016 synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258] xref: DOID:9258 {source="MONDO:equivalentTo"} xref: GARD:0005525 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="ORDO:3440/index", source="ORDO:3440/ntbt", source="Orphanet:3440"} -xref: MedDRA:10069203 {source="Orphanet:3440", source="ORDO:3440/e"} -xref: MESH:D014849 {source="DOID:9258", source="Orphanet:3440", source="ORDO:3440/e"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:3440/index", source="Orphanet:3440/ntbt", source="Orphanet:3440"} +xref: MedDRA:10069203 {source="Orphanet:3440/e", source="Orphanet:3440"} +xref: MESH:D014849 {source="Orphanet:3440/e", source="DOID:9258", source="Orphanet:3440"} xref: NCIT:C75008 {source="MONDO:superClassOf", source="DOID:9258"} xref: NCIT:C85222 {source="MONDO:equivalentTo", source="DOID:9258"} -xref: OMIM:148820 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} -xref: OMIM:193500 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} -xref: OMIM:193510 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} -xref: OMIM:600193 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} -xref: OMIM:606662 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} -xref: OMIM:608890 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} -xref: OMIM:611584 {source="MONDO:superClassOf", source="ORDO:3440/btnt", source="Orphanet:3440"} +xref: OMIM:148820 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} +xref: OMIM:193500 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} +xref: OMIM:193510 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} +xref: OMIM:600193 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} +xref: OMIM:606662 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} +xref: OMIM:608890 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} +xref: OMIM:611584 {source="MONDO:superClassOf", source="Orphanet:3440/btnt", source="Orphanet:3440"} xref: OMIMPS:193500 {source="MONDO:equivalentTo", source="DOID:9258"} xref: Orphanet:3440 {source="MONDO:equivalentTo", source="DOID:9258"} xref: Orphanet:895 {source="MONDO:superClassOf", source="DOID:9258"} xref: SCTID:47434006 {source="DOID:9258"} xref: SCTID:715952000 {source="MONDO:equivalentTo"} -xref: UMLS:C0043008 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3440", source="ORDO:3440/e"} +xref: UMLS:C0043008 {source="Orphanet:3440/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3440"} xref: UMLS:C0079661 {source="MONDO:notFoundInDiseaseSubset", source="DOID:9258"} xref: UMLS:C1847800 {source="MONDO:superClassOf", source="DOID:9258"} xref: UMLS:C3266898 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C85222", source="DOID:9258", source="Orphanet:3440"} @@ -348912,7 +348751,7 @@ id: MONDO:0018095 name: Weaver-Williams syndrome def: "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." [Orphanet:3448] subset: ordo_malformation_syndrome {source="Orphanet:3448"} -xref: ICD10CM:Q87.8 {source="ORDO:3448/attributed", source="ORDO:3448/ntbt", source="Orphanet:3448"} +xref: ICD10CM:Q87.8 {source="Orphanet:3448", source="Orphanet:3448/attributed", source="Orphanet:3448/ntbt"} xref: Orphanet:3448 {source="MONDO:equivalentTo"} xref: UMLS:CN204431 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3448", source="indirect"} ! syndromic intellectual disability @@ -348936,20 +348775,20 @@ synonym: "WM syndrome" RELATED [GARD:0004936] synonym: "WMS" RELATED ABBREVIATION [GARD:0004936] xref: DOID:0050475 {source="MONDO:equivalentTo"} xref: GARD:0004936 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:3449/index", source="ORDO:3449/ntbt", source="Orphanet:3449"} +xref: ICD10CM:Q87.0 {source="Orphanet:3449", source="Orphanet:3449/index", source="Orphanet:3449/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10064963 {source="ORDO:3449/e", source="Orphanet:3449"} -xref: MESH:D056846 {source="DOID:0050475", source="MONDO:equivalentTo", source="ORDO:3449/e", source="Orphanet:3449"} +xref: MedDRA:10064963 {source="Orphanet:3449", source="Orphanet:3449/e"} +xref: MESH:D056846 {source="DOID:0050475", source="MONDO:equivalentTo", source="Orphanet:3449", source="Orphanet:3449/e"} xref: NCIT:C85226 {source="DOID:0050475", source="MONDO:equivalentTo"} -xref: OMIM:277600 {source="DOID:0050475", source="ORDO:3449/btnt", source="MONDO:superClassOf", source="Orphanet:3449"} -xref: OMIM:608328 {source="DOID:0050475", source="ORDO:3449/btnt", source="MONDO:superClassOf", source="Orphanet:3449"} +xref: OMIM:277600 {source="DOID:0050475", source="MONDO:superClassOf", source="Orphanet:3449", source="Orphanet:3449/btnt"} +xref: OMIM:608328 {source="DOID:0050475", source="MONDO:superClassOf", source="Orphanet:3449", source="Orphanet:3449/btnt"} xref: OMIM:613195 {source="DOID:0050475", source="MONDO:superClassOf"} -xref: OMIM:614819 {source="DOID:0050475", source="ORDO:3449/btnt", source="MONDO:superClassOf", source="Orphanet:3449"} +xref: OMIM:614819 {source="DOID:0050475", source="MONDO:superClassOf", source="Orphanet:3449", source="Orphanet:3449/btnt"} xref: OMIMPS:277600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:3449 {source="DOID:0050475", source="MONDO:equivalentTo"} xref: SCTID:205801004 {source="DOID:0050475"} xref: SCTID:2884008 {source="DOID:0050475", source="MONDO:equivalentTo"} -xref: UMLS:C0265313 {source="DOID:0050475", source="MONDO:equivalentTo", source="ORDO:3449/e", source="Orphanet:3449", source="NCIT:C85226"} +xref: UMLS:C0265313 {source="DOID:0050475", source="MONDO:equivalentTo", source="Orphanet:3449", source="NCIT:C85226", source="Orphanet:3449/e"} xref: UMLS:C1869114 {source="DOID:0050475", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1869115 {source="DOID:0050475", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000429 {source="DOID:0050475"} ! autosomal genetic disease @@ -348976,22 +348815,22 @@ synonym: "X-linked infantile spasm syndrome" RELATED [GARD:0007887] synonym: "X-linked infantile spasms" RELATED [GARD:0007887] xref: DOID:0050562 {source="MONDO:equivalentTo"} xref: GARD:0007887 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G40.4 {source="ORDO:3451/inclusion", source="ORDO:3451/ntbt", source="Orphanet:3451"} +xref: ICD10CM:G40.4 {source="Orphanet:3451/ntbt", source="Orphanet:3451/inclusion", source="Orphanet:3451"} xref: ICD9:345.60 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10021750 {source="Orphanet:3451", source="ORDO:3451/e"} +xref: MedDRA:10021750 {source="Orphanet:3451/e", source="Orphanet:3451"} xref: NCIT:C84788 {source="MONDO:equivalentTo"} -xref: OMIM:300672 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:308350 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:613477 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:613722 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:615006 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:616139 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:616341 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} -xref: OMIM:617065 {source="MONDO:superClassOf", source="ORDO:3451/btnt", source="Orphanet:3451"} +xref: OMIM:300672 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:308350 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:613477 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:613722 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:615006 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:616139 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:616341 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} +xref: OMIM:617065 {source="MONDO:superClassOf", source="Orphanet:3451/btnt", source="Orphanet:3451"} xref: Orphanet:3451 {source="MONDO:equivalentTo"} xref: SCTID:28055006 {source="MONDO:equivalentTo"} -xref: UMLS:C0037769 {source="NCIT:C84788", source="MONDO:equivalentTo", source="Orphanet:3451", source="ORDO:3451/e"} +xref: UMLS:C0037769 {source="NCIT:C84788", source="Orphanet:3451/e", source="MONDO:equivalentTo", source="Orphanet:3451"} is_a: MONDO:0000413 {source="DOID:0050562"} ! infancy electroclinical syndrome is_a: MONDO:0000508 {source="Orphanet:3451"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84788", source="indirect"} ! syndromic disease @@ -349009,7 +348848,7 @@ synonym: "LGMD1E" EXACT ABBREVIATION [Orphanet:34517] synonym: "limb-girdle muscular dystrophy type 1E" RELATED [GARD:0012529] xref: DOID:0110305 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"} xref: GARD:0012529 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:34517/attributed", source="ORDO:34517/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:34517/attributed", source="Orphanet:34517/ntbt"} xref: Orphanet:34517 {source="MONDO:equivalentObsolete"} xref: UMLS:C3148763 {source="OMIM:603511", source="MONDO:equivalentTo", source="Orphanet:34517"} is_a: MONDO:0015151 {source="Orphanet:34517"} ! muscular dystrophy, limb-girdle, autosomal dominant @@ -349033,7 +348872,7 @@ synonym: "hypomagnesemia" BROAD [OMIMPS:602014] synonym: "primary familial hypomagnesemia" EXACT [DOID:0060879] xref: DOID:0060879 {source="MONDO:equivalentTo"} xref: GARD:0002906 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E83.4 {source="Orphanet:34526", source="DOID:0060879", source="ORDO:34526/attributed", source="ORDO:34526/ntbt"} +xref: ICD10CM:E83.4 {source="Orphanet:34526/attributed", source="Orphanet:34526/ntbt", source="Orphanet:34526", source="DOID:0060879"} xref: NCIT:C123263 {source="MONDO:equivalentTo"} xref: OMIMPS:602014 {source="MONDO:equivalentTo", source="DOID:0060879"} xref: Orphanet:34526 {source="MONDO:equivalentTo", source="DOID:0060879"} @@ -349052,10 +348891,10 @@ id: MONDO:0018101 name: familial primary hypomagnesemia with normocalciuria and normocalcemia def: "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." [Orphanet:34527] subset: ordo_disease {source="Orphanet:34527"} -xref: ICD10CM:E83.4 {source="Orphanet:34527", source="ORDO:34527/attributed", source="ORDO:34527/ntbt"} -xref: OMIM:611718 {source="Orphanet:34527", source="MONDO:superClassOf", source="ORDO:34527/btnt"} -xref: OMIM:613882 {source="Orphanet:34527", source="MONDO:superClassOf", source="ORDO:34527/btnt"} -xref: OMIM:616418 {source="Orphanet:34527", source="MONDO:superClassOf", source="ORDO:34527/btnt"} +xref: ICD10CM:E83.4 {source="Orphanet:34527/attributed", source="Orphanet:34527/ntbt", source="Orphanet:34527"} +xref: OMIM:611718 {source="Orphanet:34527/btnt", source="Orphanet:34527", source="MONDO:superClassOf"} +xref: OMIM:613882 {source="Orphanet:34527/btnt", source="Orphanet:34527", source="MONDO:superClassOf"} +xref: OMIM:616418 {source="Orphanet:34527/btnt", source="Orphanet:34527", source="MONDO:superClassOf"} xref: Orphanet:34527 {source="MONDO:equivalentTo"} xref: SCTID:725031005 {source="MONDO:equivalentTo"} xref: UMLS:C4510731 {source="MONDO:equivalentTo"} @@ -349073,12 +348912,12 @@ synonym: "corneal dystrophy" EXACT [MONDO:ambiguous] synonym: "corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2566 {source="MONDO:equivalentTo"} xref: HP:0001131 {source="MONDO:otherHierarchy"} -xref: ICD10CM:H18.5 {source="Orphanet:34533", source="DOID:2566", source="ORDO:34533/specific", source="ORDO:34533/e"} +xref: ICD10CM:H18.5 {source="Orphanet:34533", source="DOID:2566", source="Orphanet:34533/e", source="Orphanet:34533/specific"} xref: ICD10CM:H18.50 {source="DOID:2566"} xref: ICD9:371.5 {source="DOID:2566"} xref: ICD9:371.50 {source="DOID:2566"} -xref: MedDRA:10011005 {source="Orphanet:34533", source="ORDO:34533/e"} -xref: MESH:D003317 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="ORDO:34533/e"} +xref: MedDRA:10011005 {source="Orphanet:34533", source="Orphanet:34533/e"} +xref: MESH:D003317 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="Orphanet:34533/e"} xref: NCIT:C34512 {source="DOID:2566"} xref: NCIT:C34513 {source="MONDO:equivalentTo", source="DOID:2566"} xref: Orphanet:34533 {source="MONDO:equivalentTo"} @@ -349088,7 +348927,7 @@ xref: SCTID:193842001 {source="DOID:2566"} xref: SCTID:5587004 {source="MONDO:equivalentTo", source="DOID:2566"} xref: SCTID:77797009 {source="DOID:2566"} xref: UMLS:C0010035 {source="Orphanet:34533", source="DOID:2566", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0010036 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="ORDO:34533/e", source="NCIT:C34513"} +xref: UMLS:C0010036 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="Orphanet:34533/e", source="NCIT:C34513"} is_a: MONDO:0000942 {source="DOID:2566", source="MESH:D003317", source="NCIT:C34513/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal disorder is_a: MONDO:0005328 {source="Orphanet:34533"} ! eye disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare @@ -349105,7 +348944,7 @@ synonym: "Quinquaud's decalvans folliculitis" RELATED [GARD:0000373] synonym: "Quinquaud's disease" RELATED [GARD:0000373] synonym: "Quinquaud’s disease" RELATED [GARD:0000373] xref: GARD:0000373 {source="MONDO:equivalentTo"} -xref: ICD10CM:L66.2 {source="Orphanet:346", source="ORDO:346/e"} +xref: ICD10CM:L66.2 {source="Orphanet:346", source="Orphanet:346/e"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:346 {source="MONDO:equivalentTo"} xref: SCTID:53593008 {source="MONDO:equivalentTo"} @@ -349119,10 +348958,10 @@ name: obsolete Torg-Winchester syndrome comment: Reason: obsoleted in Orphanet, out of scope. Term to consider: MONDO:0010201. subset: ordo_clinical_subtype {source="Orphanet:3460"} synonym: "Winchester syndrome" EXACT [Orphanet:3460] -xref: ICD10CM:M89.5 {source="Orphanet:3460", source="ORDO:3460/attributed", source="ORDO:3460/ntbt"} -xref: MESH:C536051 {source="Orphanet:3460", source="ORDO:3460/e"} +xref: ICD10CM:M89.5 {source="Orphanet:3460/attributed", source="Orphanet:3460/ntbt", source="Orphanet:3460"} +xref: MESH:C536051 {source="Orphanet:3460/e", source="Orphanet:3460"} xref: Orphanet:3460 {source="MONDO:obsoleteEquivalentObsolete"} -xref: UMLS:C1850155 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3460", source="ORDO:3460/e"} +xref: UMLS:C1850155 {source="Orphanet:3460/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3460"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3949 property_value: IAO:0000231 "out of scope" xsd:string is_obsolete: true @@ -349142,16 +348981,16 @@ synonym: "WFS" EXACT ABBREVIATION [DOID:10632] synonym: "Wolfram syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:10632 {source="MONDO:equivalentTo"} xref: GARD:0007898 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E13.8 {source="Orphanet:3463", source="ORDO:3463/attributed", source="ORDO:3463/ntbt"} +xref: ICD10CM:E13.8 {source="Orphanet:3463", source="Orphanet:3463/attributed", source="Orphanet:3463/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="ORDO:3463/e"} +xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="Orphanet:3463/e"} xref: NCIT:C35133 {source="DOID:10632", source="MONDO:equivalentTo"} -xref: OMIM:222300 {source="Orphanet:3463", source="MONDO:superClassOf", source="ORDO:3463/e"} -xref: OMIM:598500 {source="Orphanet:3463", source="MONDO:superClassOf", source="ORDO:3463/btnt"} -xref: OMIM:604928 {source="Orphanet:3463", source="MONDO:superClassOf", source="ORDO:3463/btnt"} +xref: OMIM:222300 {source="Orphanet:3463", source="MONDO:superClassOf", source="Orphanet:3463/e"} +xref: OMIM:598500 {source="Orphanet:3463", source="Orphanet:3463/btnt", source="MONDO:superClassOf"} +xref: OMIM:604928 {source="Orphanet:3463", source="Orphanet:3463/btnt", source="MONDO:superClassOf"} xref: Orphanet:3463 {source="DOID:10632", source="MONDO:equivalentTo"} xref: SCTID:70694009 {source="DOID:10632", source="MONDO:equivalentTo"} -xref: UMLS:C0043207 {source="DOID:10632", source="Orphanet:3463", source="NCIT:C35133", source="MONDO:equivalentTo", source="ORDO:3463/e"} +xref: UMLS:C0043207 {source="DOID:10632", source="Orphanet:3463", source="NCIT:C35133", source="MONDO:equivalentTo", source="Orphanet:3463/e"} xref: UMLS:CN184630 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:10632", source="MONDO:Redundant", source="NCIT:C35133", source="indirect"} ! syndromic disease is_a: MONDO:0018609 {source="Orphanet:3463"} ! syndromic hereditary optic neuropathy @@ -349175,12 +349014,12 @@ synonym: "xanthine stone disease" EXACT [Orphanet:3467] synonym: "xanthinuria" RELATED [DOID:0060236] xref: DOID:0060236 {source="MONDO:equivalentTo"} xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"} -xref: ICD10CM:E79.8 {source="Orphanet:3467", source="ORDO:3467/ntbt", source="ORDO:3467/inclusion"} +xref: ICD10CM:E79.8 {source="Orphanet:3467/inclusion", source="Orphanet:3467/ntbt", source="Orphanet:3467"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562584 {source="DOID:0060236", source="MONDO:superClassOf"} xref: MESH:C566358 {source="DOID:0060236", source="MONDO:superClassOf"} -xref: OMIM:278300 {source="Orphanet:3467", source="DOID:0060236", source="MONDO:superClassOf", source="ORDO:3467/btnt"} -xref: OMIM:603592 {source="Orphanet:3467", source="DOID:0060236", source="MONDO:superClassOf", source="ORDO:3467/btnt"} +xref: OMIM:278300 {source="Orphanet:3467/btnt", source="Orphanet:3467", source="DOID:0060236", source="MONDO:superClassOf"} +xref: OMIM:603592 {source="Orphanet:3467/btnt", source="Orphanet:3467", source="DOID:0060236", source="MONDO:superClassOf"} xref: OMIMPS:278300 {source="MONDO:equivalentTo"} xref: Orphanet:3467 {source="MONDO:equivalentTo", source="DOID:0060236", source="MONDO:superClassOf"} xref: SCTID:124147007 {source="DOID:0060236"} @@ -349200,7 +349039,7 @@ property_value: confidence "19.999999999999982" xsd:double id: MONDO:0018107 name: idiopathic recurrent and disabling cutaneous herpes subset: ordo_disease {source="Orphanet:35061"} -xref: ICD10CM:B00.1 {source="Orphanet:35061", source="ORDO:35061/ntbt"} +xref: ICD10CM:B00.1 {source="Orphanet:35061/ntbt", source="Orphanet:35061"} xref: Orphanet:35061 {source="MONDO:equivalentTo"} xref: UMLS:CN204468 {source="MONDO:equivalentTo"} is_a: MONDO:0005108 {source="Orphanet:35061"} ! viral infectious disease @@ -349212,7 +349051,7 @@ id: MONDO:0018108 name: idiopathic disseminated cytomegalovirus infection subset: ordo_disease {source="Orphanet:35062"} synonym: "idiopathic disseminated CMV infection" EXACT [Orphanet:35062] -xref: ICD10CM:B25.8 {source="Orphanet:35062", source="ORDO:35062/ntbt"} +xref: ICD10CM:B25.8 {source="Orphanet:35062", source="Orphanet:35062/ntbt"} xref: Orphanet:35062 {source="MONDO:equivalentTo"} xref: UMLS:CN204469 {source="MONDO:equivalentTo"} is_a: MONDO:0005108 {source="Orphanet:35062"} ! viral infectious disease @@ -349225,7 +349064,7 @@ id: MONDO:0018109 name: fulminant viral hepatitis def: "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." [Orphanet:35063] subset: ordo_disease {source="Orphanet:35063"} -xref: ICD10CM:K72 {source="ORDO:35063/ntbt", source="Orphanet:35063"} +xref: ICD10CM:K72 {source="Orphanet:35063", source="Orphanet:35063/ntbt"} xref: Orphanet:35063 {source="MONDO:equivalentTo"} is_a: MONDO:0002251 ! hepatitis relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare @@ -349244,7 +349083,7 @@ relationship: has_modifier MONDO:0700005 ! idiopathic id: MONDO:0018111 name: idiopathic severe pneumococcemia subset: ordo_disease {source="Orphanet:35065"} -xref: ICD10CM:A40.3 {source="ORDO:35065/ntbt", source="Orphanet:35065"} +xref: ICD10CM:A40.3 {source="Orphanet:35065", source="Orphanet:35065/ntbt"} xref: Orphanet:35065 {source="MONDO:equivalentTo"} is_a: MONDO:0005113 {source="Orphanet:35065"} ! bacterial infectious disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare @@ -349257,10 +349096,10 @@ def: "Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characte subset: ordo_morphological_anomaly {source="Orphanet:35093"} synonym: "isolated dolichocephaly" EXACT [Orphanet:35093] synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093] -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:35093", source="ORDO:35093/attributed", source="ORDO:35093/ntbt"} -xref: OMIM:123100 {source="Orphanet:35093", source="MONDO:superClassOf", source="ORDO:35093/btnt"} -xref: OMIM:600775 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:35093", source="ORDO:35093/ntbt"} -xref: OMIM:615529 {source="Orphanet:35093", source="MONDO:superClassOf", source="ORDO:35093/btnt"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:35093/attributed", source="Orphanet:35093/ntbt", source="Orphanet:35093"} +xref: OMIM:123100 {source="Orphanet:35093/btnt", source="Orphanet:35093", source="MONDO:superClassOf"} +xref: OMIM:600775 {source="MONDO:subClassOf", source="Orphanet:35093/ntbt", source="MONDO:relatedTo", source="Orphanet:35093"} +xref: OMIM:615529 {source="Orphanet:35093/btnt", source="Orphanet:35093", source="MONDO:superClassOf"} xref: Orphanet:35093 {source="MONDO:equivalentTo"} xref: UMLS:C0265534 {source="Orphanet:35093", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015337 {source="Orphanet:35093"} ! isolated craniosynostosis @@ -349275,10 +349114,10 @@ def: "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosyn subset: ordo_morphological_anomaly {source="Orphanet:35098"} synonym: "non-syndromic unicoronal synostosis" EXACT [Orphanet:35098] synonym: "synostotic plagiocephaly" EXACT [Orphanet:35098] -xref: ICD10CM:Q67.3 {source="ORDO:35098/e", source="Orphanet:35098", source="ORDO:35098/specific"} -xref: OMIM:123100 {source="ORDO:35098/btnt", source="MONDO:superClassOf", source="Orphanet:35098"} -xref: OMIM:615314 {source="ORDO:35098/btnt", source="MONDO:superClassOf", source="Orphanet:35098"} -xref: OMIM:616602 {source="ORDO:35098/btnt", source="MONDO:superClassOf", source="Orphanet:35098"} +xref: ICD10CM:Q67.3 {source="Orphanet:35098/specific", source="Orphanet:35098", source="Orphanet:35098/e"} +xref: OMIM:123100 {source="MONDO:superClassOf", source="Orphanet:35098", source="Orphanet:35098/btnt"} +xref: OMIM:615314 {source="MONDO:superClassOf", source="Orphanet:35098", source="Orphanet:35098/btnt"} +xref: OMIM:616602 {source="MONDO:superClassOf", source="Orphanet:35098", source="Orphanet:35098/btnt"} xref: Orphanet:35098 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:35098"} ! isolated craniosynostosis is_a: MONDO:0015368 ! neuro-ophthalmological disease @@ -349290,10 +349129,10 @@ name: isolated brachycephaly def: "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." [Orphanet:35099] subset: ordo_morphological_anomaly {source="Orphanet:35099"} synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099] -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="ORDO:35099/attributed", source="ORDO:35099/ntbt", source="Orphanet:35099"} -xref: OMIM:123100 {source="ORDO:35099/btnt", source="MONDO:superClassOf", source="Orphanet:35099"} -xref: OMIM:615314 {source="ORDO:35099/btnt", source="MONDO:superClassOf", source="Orphanet:35099"} -xref: OMIM:616602 {source="ORDO:35099/btnt", source="MONDO:superClassOf", source="Orphanet:35099"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:35099/attributed", source="Orphanet:35099/ntbt", source="Orphanet:35099"} +xref: OMIM:123100 {source="MONDO:superClassOf", source="Orphanet:35099/btnt", source="Orphanet:35099"} +xref: OMIM:615314 {source="MONDO:superClassOf", source="Orphanet:35099/btnt", source="Orphanet:35099"} +xref: OMIM:616602 {source="MONDO:superClassOf", source="Orphanet:35099/btnt", source="Orphanet:35099"} xref: Orphanet:35099 {source="MONDO:equivalentTo"} xref: UMLS:C0221356 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35099"} is_a: MONDO:0015337 {source="Orphanet:35099"} ! isolated craniosynostosis @@ -349306,13 +349145,13 @@ name: epidermal nevus syndrome def: "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." [MESH:D054000] subset: ordo_disease {source="Orphanet:35125"} synonym: "Epidermal hamartoma syndrome" EXACT [Orphanet:35125] -xref: ICD10CM:Q85.8 {source="ORDO:35125/attributed", source="ORDO:35125/ntbt", source="Orphanet:35125"} -xref: MedDRA:10014985 {source="ORDO:35125/e", source="Orphanet:35125"} -xref: MESH:C536114 {source="ORDO:35125/e", source="Orphanet:35125"} -xref: MESH:D054000 {source="ORDO:35125/e", source="Orphanet:35125"} +xref: ICD10CM:Q85.8 {source="Orphanet:35125/attributed", source="Orphanet:35125/ntbt", source="Orphanet:35125"} +xref: MedDRA:10014985 {source="Orphanet:35125/e", source="Orphanet:35125"} +xref: MESH:C536114 {source="Orphanet:35125/e", source="Orphanet:35125"} +xref: MESH:D054000 {source="Orphanet:35125/e", source="Orphanet:35125"} xref: Orphanet:35125 {source="MONDO:equivalentTo"} xref: SCTID:239112008 {source="MONDO:equivalentTo"} -xref: UMLS:C0334082 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:35125/e", source="Orphanet:35125"} +xref: UMLS:C0334082 {source="Orphanet:35125/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35125"} is_a: MONDO:0005073 {source="Orphanet:35125"} ! melanocytic nevus relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare @@ -349327,15 +349166,15 @@ synonym: "galactose intolerance" EXACT [DOID:9870] synonym: "galactosemia" EXACT [MONDO:0004908] xref: DOID:9870 {source="MONDO:equivalentTo"} xref: GARD:0002424 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E74.2 {source="ORDO:352/inclusion", source="ORDO:352/ntbt", source="Orphanet:352"} +xref: ICD10CM:E74.2 {source="Orphanet:352/inclusion", source="Orphanet:352/ntbt", source="Orphanet:352"} xref: ICD10CM:E74.21 {source="DOID:9870"} xref: ICD9:271.1 {source="MONDO:equivalentTo", source="i2s", source="DOID:9870"} -xref: MedDRA:10017604 {source="ORDO:352/e", source="Orphanet:352"} -xref: MESH:D005693 {source="MONDO:equivalentTo", source="ORDO:352/e", source="DOID:9870", source="Orphanet:352"} +xref: MedDRA:10017604 {source="Orphanet:352/e", source="Orphanet:352"} +xref: MESH:D005693 {source="Orphanet:352/e", source="MONDO:equivalentTo", source="DOID:9870", source="Orphanet:352"} xref: NCIT:C84723 {source="MONDO:equivalentTo", source="DOID:9870"} -xref: OMIM:230200 {source="ORDO:352/btnt", source="MONDO:superClassOf", source="Orphanet:352"} -xref: OMIM:230350 {source="ORDO:352/btnt", source="MONDO:superClassOf", source="DOID:9870", source="Orphanet:352"} -xref: OMIM:230400 {source="ORDO:352/btnt", source="MONDO:superClassOf", source="DOID:9870", source="Orphanet:352"} +xref: OMIM:230200 {source="MONDO:superClassOf", source="Orphanet:352/btnt", source="Orphanet:352"} +xref: OMIM:230350 {source="MONDO:superClassOf", source="Orphanet:352/btnt", source="DOID:9870", source="Orphanet:352"} +xref: OMIM:230400 {source="MONDO:superClassOf", source="Orphanet:352/btnt", source="DOID:9870", source="Orphanet:352"} xref: OMIMPS:230400 {source="MONDO:equivalentTo"} xref: Orphanet:352 {source="MONDO:equivalentTo"} xref: SCTID:154738008 {source="DOID:9870"} @@ -349344,7 +349183,7 @@ xref: SCTID:190747003 {source="DOID:9870"} xref: SCTID:190749000 {source="MONDO:relatedTo", source="DOID:9870"} xref: SCTID:267498002 {source="DOID:9870"} xref: SCTID:38177000 {source="DOID:9870"} -xref: UMLS:C0016952 {source="NCIT:C84723", source="MONDO:equivalentTo", source="ORDO:352/e", source="DOID:9870", source="Orphanet:352"} +xref: UMLS:C0016952 {source="NCIT:C84723", source="Orphanet:352/e", source="MONDO:equivalentTo", source="DOID:9870", source="Orphanet:352"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0017690 {source="Orphanet:352", source="linkedlifedata"} ! disorder of galactose metabolism is_a: MONDO:0019052 {source="DOID:9870/inferred", source="MESH:D005693/inferred", source="MONDO:Redundant", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn errors of metabolism @@ -349420,7 +349259,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0000002 ! mitochondrial g id: MONDO:0018122 name: digital anomalies-intellectual disability-short stature syndrome subset: ordo_disease {source="Orphanet:352487"} -xref: ICD10CM:Q87.2 {source="Orphanet:352487", source="ORDO:352487/attributed", source="ORDO:352487/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:352487/attributed", source="Orphanet:352487/ntbt", source="Orphanet:352487"} xref: Orphanet:352487 {source="MONDO:equivalentTo"} xref: UMLS:CN204494 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:352487"} ! X-linked syndromic intellectual disability @@ -349432,7 +349271,7 @@ def: "Intellectual disability-obesity-brain malformations-facial dysmorphism syn subset: ordo_disease {source="Orphanet:352530"} synonym: "autosomal recessive intellectual disability due to TRAPPC9 deficiency" EXACT [Orphanet:352530] synonym: "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q04.8 {source="Orphanet:352530", source="ORDO:352530/attributed", source="ORDO:352530/ntbt"} +xref: ICD10CM:Q04.8 {source="Orphanet:352530/attributed", source="Orphanet:352530/ntbt", source="Orphanet:352530"} xref: Orphanet:352530 {source="MONDO:equivalentTo"} xref: UMLS:CN204496 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:352530"} ! syndromic intellectual disability @@ -349451,7 +349290,7 @@ synonym: "OOM" RELATED ABBREVIATION [GARD:0009652] synonym: "TIO" EXACT ABBREVIATION [Orphanet:352540] synonym: "tumor-induced osteomalacia" EXACT [Orphanet:352540] xref: GARD:0009652 {source="MONDO:equivalentTo"} -xref: ICD10CM:M83.8 {source="Orphanet:352540", source="ORDO:352540/ntbt"} +xref: ICD10CM:M83.8 {source="Orphanet:352540", source="Orphanet:352540/ntbt"} xref: MESH:C537751 {source="MONDO:equivalentTo"} xref: NCIT:C67235 {source="MONDO:equivalentTo"} xref: Orphanet:352540 {source="MONDO:equivalentTo"} @@ -349470,7 +349309,7 @@ name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation def: "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." [Orphanet:352587] subset: ordo_disease {source="Orphanet:352587"} synonym: "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" EXACT [Orphanet:352587] -xref: ICD10CM:Q04.8 {source="ORDO:352587/attributed", source="ORDO:352587/ntbt", source="Orphanet:352587"} +xref: ICD10CM:Q04.8 {source="Orphanet:352587", source="Orphanet:352587/attributed", source="Orphanet:352587/ntbt"} xref: Orphanet:352587 {source="MONDO:equivalentTo"} xref: UMLS:CN204502 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:352587"} ! monogenic epilepsy @@ -349482,8 +349321,8 @@ def: "A rare, genetic epilepsy syndrome characterized by neonatal or early infan subset: ordo_disease {source="Orphanet:352596"} synonym: "PMED" EXACT ABBREVIATION [Orphanet:352596] synonym: "progressive myoclonus epilepsy with dystonia" EXACT [Orphanet:352596] -xref: ICD10CM:G40.3 {source="Orphanet:352596", source="ORDO:352596/attributed", source="ORDO:352596/ntbt"} -xref: OMIM:615338 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:352596", source="ORDO:352596/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:352596/attributed", source="Orphanet:352596/ntbt", source="Orphanet:352596"} +xref: OMIM:615338 {source="MONDO:subClassOf", source="Orphanet:352596/ntbt", source="MONDO:relatedTo", source="Orphanet:352596"} xref: Orphanet:352596 {source="MONDO:equivalentTo"} xref: SCTID:763349002 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 {source="Orphanet:352596"} ! infantile epilepsy syndrome @@ -349497,7 +349336,7 @@ def: "16q24.1 microdeletion syndrome is a partial autosomal monosomy characteriz subset: ordo_disease {source="Orphanet:352629"} synonym: "Del(16)(q24.1)" EXACT [Orphanet:352629] synonym: "monosomy 16q24.1" EXACT [Orphanet:352629] -xref: ICD10CM:Q93.5 {source="ORDO:352629/attributed", source="ORDO:352629/ntbt", source="Orphanet:352629"} +xref: ICD10CM:Q93.5 {source="Orphanet:352629/attributed", source="Orphanet:352629/ntbt", source="Orphanet:352629"} xref: Orphanet:352629 {source="MONDO:equivalentTo"} xref: UMLS:CN204505 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:352629", source="Orphanet:352629/inferred"} ! respiratory system disorder @@ -349513,7 +349352,7 @@ name: phalangeal microgeodic syndrome def: "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." [Orphanet:352636] subset: ordo_disease {source="Orphanet:352636"} synonym: "phalangeal osteolysis" EXACT [Orphanet:352636] -xref: ICD10CM:M89.5 {source="ORDO:352636/attributed", source="ORDO:352636/ntbt", source="Orphanet:352636"} +xref: ICD10CM:M89.5 {source="Orphanet:352636", source="Orphanet:352636/attributed", source="Orphanet:352636/ntbt"} xref: Orphanet:352636 {source="MONDO:equivalentTo"} xref: UMLS:CN204506 {source="MONDO:equivalentTo"} is_a: MONDO:0019707 {source="Orphanet:352636"} ! primary osteolysis @@ -349524,7 +349363,7 @@ name: autosomal recessive cerebellar ataxia with late-onset spasticity def: "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." [Orphanet:352641] subset: ordo_disease {source="Orphanet:352641"} synonym: "autosomal recessive cerebellar ataxia due to GBA2 deficiency" EXACT [Orphanet:352641] -xref: ICD10CM:G11.8 {source="Orphanet:352641", source="ORDO:352641/attributed", source="ORDO:352641/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:352641/attributed", source="Orphanet:352641/ntbt", source="Orphanet:352641"} xref: Orphanet:352641 {source="MONDO:equivalentTo"} xref: SCTID:763348005 {source="MONDO:equivalentTo"} xref: UMLS:CN204507 {source="MONDO:equivalentTo"} @@ -349536,7 +349375,7 @@ id: MONDO:0018130 name: brain dopamine-serotonin vesicular transport disease def: "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." [Orphanet:352649] subset: ordo_disease {source="Orphanet:352649"} -xref: ICD10CM:G25.8 {source="Orphanet:352649", source="ORDO:352649/attributed", source="ORDO:352649/ntbt"} +xref: ICD10CM:G25.8 {source="Orphanet:352649/attributed", source="Orphanet:352649/ntbt", source="Orphanet:352649"} xref: Orphanet:352649 {source="MONDO:equivalentTo"} xref: SCTID:717942003 {source="MONDO:equivalentTo"} xref: UMLS:C4303546 {source="MONDO:equivalentTo"} @@ -349550,7 +349389,7 @@ name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dy subset: ordo_etiological_subtype {source="Orphanet:352665"} synonym: "9q21 microdeletion syndrome" EXACT [Orphanet:352665] synonym: "Del(9)(q21)" EXACT [Orphanet:352665] -xref: ICD10CM:Q93.5 {source="ORDO:352665/attributed", source="ORDO:352665/ntbt", source="Orphanet:352665"} +xref: ICD10CM:Q93.5 {source="Orphanet:352665", source="Orphanet:352665/attributed", source="Orphanet:352665/ntbt"} xref: Orphanet:352665 {source="MONDO:equivalentTo"} xref: UMLS:CN204512 {source="MONDO:equivalentTo"} is_a: MONDO:0016908 {source="Orphanet:352665"} ! partial monosomy of the long arm of chromosome 9 @@ -349586,7 +349425,7 @@ subset: ordo_disease {source="Orphanet:352723"} synonym: "attenuated Chediak-Higashi syndrome" EXACT [Orphanet:352723] synonym: "atypical Chediak-Higashi syndrome" EXACT [Orphanet:352723] synonym: "atypical Chédiak-Higashi syndrome" EXACT [Orphanet:352723] -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="ORDO:352723/attributed", source="ORDO:352723/ntbt", source="Orphanet:352723"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:352723/attributed", source="Orphanet:352723/ntbt", source="Orphanet:352723"} xref: Orphanet:352723 {source="MONDO:equivalentTo"} xref: SCTID:720520009 {source="MONDO:equivalentTo"} xref: UMLS:C4304022 {source="MONDO:equivalentTo"} @@ -349613,9 +349452,9 @@ synonym: "OCA1" EXACT ABBREVIATION [Orphanet:352731] synonym: "oculocutaneous albinism type 1" EXACT CLINGEN_PREFERRED [] synonym: "oculocutaneous albinism, tyrosinase negative" RELATED [GARD:0004037] xref: GARD:0004037 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:352731/attributed", source="ORDO:352731/ntbt", source="Orphanet:352731"} -xref: OMIM:203100 {source="ORDO:352731/btnt", source="Orphanet:352731", source="MONDO:superClassOf"} -xref: OMIM:606952 {source="ORDO:352731/btnt", source="Orphanet:352731", source="MONDO:superClassOf"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:352731", source="Orphanet:352731/attributed", source="Orphanet:352731/ntbt"} +xref: OMIM:203100 {source="Orphanet:352731", source="MONDO:superClassOf", source="Orphanet:352731/btnt"} +xref: OMIM:606952 {source="Orphanet:352731", source="MONDO:superClassOf", source="Orphanet:352731/btnt"} xref: Orphanet:352731 {source="MONDO:equivalentTo"} xref: SCTID:765146000 {source="MONDO:equivalentTo"} xref: UMLS:C0268494 {source="Orphanet:352731", source="MONDO:notFoundInDiseaseSubset"} @@ -349629,7 +349468,7 @@ def: "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely r subset: ordo_clinical_subtype {source="Orphanet:352734"} synonym: "MP OCA type 1" EXACT [Orphanet:352734] synonym: "OCA1-MP" EXACT [Orphanet:352734] -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:352734/attributed", source="ORDO:352734/ntbt", source="Orphanet:352734"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:352734/attributed", source="Orphanet:352734/ntbt", source="Orphanet:352734"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:352734 {source="MONDO:equivalentTo"} xref: SCTID:237919007 {source="MONDO:equivalentTo"} @@ -349643,8 +349482,8 @@ def: "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extre subset: ordo_clinical_subtype {source="Orphanet:352737"} synonym: "OCA1-TS" EXACT [Orphanet:352737] synonym: "TS OCA type 1" EXACT [Orphanet:352737] -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:352737", source="ORDO:352737/attributed", source="ORDO:352737/ntbt"} -xref: OMIM:606952 {source="MONDO:subClassOf", source="Orphanet:352737", source="MONDO:directSiblingOf", source="ORDO:352737/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:352737/attributed", source="Orphanet:352737/ntbt", source="Orphanet:352737"} +xref: OMIM:606952 {source="MONDO:subClassOf", source="Orphanet:352737/ntbt", source="Orphanet:352737", source="MONDO:directSiblingOf"} xref: Orphanet:352737 {source="MONDO:equivalentTo"} xref: UMLS:C1847132 {source="MONDO:equivalentTo", source="Orphanet:352737"} is_a: MONDO:0018135 {source="Orphanet:352737"} ! oculocutaneous albinism type 1 @@ -349668,8 +349507,8 @@ synonym: "Waardenburg syndrome/albinism, digenic" EXACT [OMIM:103470, OMIM:genem synonym: "Waardenburg syndrome/ocular albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2] synonym: "WS2-OA" EXACT [DOID:0090100] xref: DOID:0090100 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="DOID:0090100", source="Orphanet:352740", source="ORDO:352740/attributed", source="ORDO:352740/ntbt"} -xref: OMIM:103470 {source="DOID:0090100", source="Orphanet:352740", source="ORDO:352740/e", source="MONDO:equivalentTo"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:352740/attributed", source="Orphanet:352740/ntbt", source="DOID:0090100", source="Orphanet:352740"} +xref: OMIM:103470 {source="DOID:0090100", source="Orphanet:352740", source="MONDO:equivalentTo", source="Orphanet:352740/e"} xref: Orphanet:352740 {source="MONDO:subClassOf", source="OMIM:103470", source="DOID:0090100", source="MONDO:equivalentTo"} xref: UMLS:C1863198 {source="OMIM:103470", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} is_a: MONDO:0017304 {source="Orphanet:352740"} ! ocular albinism @@ -349705,7 +349544,7 @@ def: "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe subset: ordo_clinical_subtype {source="Orphanet:353308"} synonym: "pyruvate carboxylase deficiency type A" EXACT [Orphanet:353308] synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [Orphanet:353308] -xref: ICD10CM:E74.4 {source="ORDO:353308/attributed", source="ORDO:353308/ntbt", source="Orphanet:353308"} +xref: ICD10CM:E74.4 {source="Orphanet:353308/attributed", source="Orphanet:353308/ntbt", source="Orphanet:353308"} xref: OMIM:266150 {source="MONDO:subClassOf", source="Orphanet:353308"} xref: Orphanet:353308 {source="MONDO:equivalentTo"} xref: UMLS:CN204538 {source="MONDO:equivalentTo"} @@ -349718,7 +349557,7 @@ name: pyruvate carboxylase deficiency, severe neonatal type def: "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." [Orphanet:353314] subset: ordo_clinical_subtype {source="Orphanet:353314"} synonym: "pyruvate carboxylase deficiency type B" EXACT [Orphanet:353314] -xref: ICD10CM:E74.4 {source="ORDO:353314/attributed", source="ORDO:353314/ntbt", source="Orphanet:353314"} +xref: ICD10CM:E74.4 {source="Orphanet:353314", source="Orphanet:353314/attributed", source="Orphanet:353314/ntbt"} xref: OMIM:266150 {source="MONDO:subClassOf", source="Orphanet:353314"} xref: Orphanet:353314 {source="MONDO:equivalentTo"} xref: UMLS:CN204539 {source="MONDO:equivalentTo"} @@ -349731,7 +349570,7 @@ name: pyruvate carboxylase deficiency, benign type def: "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." [Orphanet:353320] subset: ordo_clinical_subtype {source="Orphanet:353320"} synonym: "pyruvate carboxylase deficiency type C" EXACT [Orphanet:353320] -xref: ICD10CM:E74.4 {source="Orphanet:353320", source="ORDO:353320/attributed", source="ORDO:353320/ntbt"} +xref: ICD10CM:E74.4 {source="Orphanet:353320/attributed", source="Orphanet:353320/ntbt", source="Orphanet:353320"} xref: OMIM:266150 {source="MONDO:subClassOf", source="Orphanet:353320"} xref: Orphanet:353320 {source="MONDO:equivalentTo"} xref: UMLS:CN204540 {source="MONDO:equivalentTo"} @@ -349742,11 +349581,11 @@ property_value: confidence "1.0" xsd:double id: MONDO:0018144 name: congenital myasthenic syndromes with glycosylation defect subset: ordo_etiological_subtype {source="Orphanet:353327"} -xref: ICD10CM:G70.2 {source="ORDO:353327/attributed", source="ORDO:353327/ntbt", source="Orphanet:353327"} -xref: OMIM:610542 {source="ORDO:353327/btnt", source="MONDO:superClassOf", source="Orphanet:353327"} -xref: OMIM:614750 {source="ORDO:353327/btnt", source="MONDO:superClassOf", source="Orphanet:353327"} -xref: OMIM:616227 {source="ORDO:353327/btnt", source="MONDO:superClassOf", source="Orphanet:353327"} -xref: OMIM:616228 {source="ORDO:353327/btnt", source="MONDO:superClassOf", source="Orphanet:353327"} +xref: ICD10CM:G70.2 {source="Orphanet:353327", source="Orphanet:353327/attributed", source="Orphanet:353327/ntbt"} +xref: OMIM:610542 {source="MONDO:superClassOf", source="Orphanet:353327", source="Orphanet:353327/btnt"} +xref: OMIM:614750 {source="MONDO:superClassOf", source="Orphanet:353327", source="Orphanet:353327/btnt"} +xref: OMIM:616227 {source="MONDO:superClassOf", source="Orphanet:353327", source="Orphanet:353327/btnt"} +xref: OMIM:616228 {source="MONDO:superClassOf", source="Orphanet:353327", source="Orphanet:353327/btnt"} xref: Orphanet:353327 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:353327"} ! disorder of protein N-glycosylation @@ -349762,7 +349601,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:353334"} synonym: "congenital arteriovenous anastomoses of the retina" EXACT [Orphanet:353334] synonym: "congenital arteriovenous communication of the retina" EXACT [Orphanet:353334] synonym: "congenital retinal arteriovenous anastomoses" EXACT [Orphanet:353334] -xref: ICD10CM:Q14.8 {source="Orphanet:353334", source="ORDO:353334/ntbt"} +xref: ICD10CM:Q14.8 {source="Orphanet:353334/ntbt", source="Orphanet:353334"} xref: Orphanet:353334 {source="MONDO:equivalentTo"} is_a: MONDO:0015145 {source="Orphanet:353334"} ! neurovascular malformation relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare @@ -349776,7 +349615,7 @@ def: "Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease subset: ordo_disease {source="Orphanet:353344"} synonym: "aneurysmal telangiectasia" EXACT [Orphanet:353344] synonym: "visible and exudative idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353344] -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:353344", source="ORDO:353344/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:353344/ntbt", source="MONDO:relatedTo", source="Orphanet:353344"} xref: Orphanet:353344 {source="MONDO:equivalentTo"} xref: UMLS:CN204544 {source="MONDO:equivalentTo"} is_a: MONDO:0020676 {source="MONDO:0018833-obsoleted"} ! disorder of central nervous system or retinal vasculature @@ -349788,7 +349627,7 @@ name: idiopathic macular telangiectasia type 3 def: "Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." [Orphanet:353351] subset: ordo_disease {source="Orphanet:353351"} synonym: "occlusive idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353351] -xref: ICD10CM:H35.5 {source="Orphanet:353351", source="MONDO:relatedTo", source="ORDO:353351/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:353351", source="MONDO:relatedTo", source="Orphanet:353351/ntbt"} xref: Orphanet:353351 {source="MONDO:equivalentTo"} xref: UMLS:CN204545 {source="MONDO:equivalentTo"} is_a: MONDO:0020676 {source="MONDO:0018833-obsoleted"} ! disorder of central nervous system or retinal vasculature @@ -349804,7 +349643,7 @@ synonym: "vasoproliferative tumor of ocular fundus" EXACT [Orphanet:353356] synonym: "vasoproliferative tumor of the ocular fundus" EXACT [Orphanet:353356] synonym: "vasoproliferative tumor of the retina" RELATED [Orphanet:353356] synonym: "VPTR" EXACT ABBREVIATION [Orphanet:353356] -xref: ICD10CM:D31.2 {source="Orphanet:353356", source="ORDO:353356/ntbt"} +xref: ICD10CM:D31.2 {source="Orphanet:353356/ntbt", source="Orphanet:353356"} xref: Orphanet:353356 {source="MONDO:equivalentTo"} xref: UMLS:CN204546 {source="MONDO:equivalentTo"} is_a: MONDO:0020676 {source="Orphanet:353356"} ! disorder of central nervous system or retinal vasculature @@ -349829,19 +349668,19 @@ synonym: "Landing disease" EXACT [Orphanet:354] synonym: "Landing syndrome" EXACT [DOID:3322] xref: DOID:3322 {source="MONDO:equivalentTo"} xref: GARD:0010891 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.1 {source="ORDO:354/ntbt", source="ORDO:354/inclusion", source="Orphanet:354"} +xref: ICD10CM:E75.1 {source="Orphanet:354/ntbt", source="Orphanet:354/inclusion", source="Orphanet:354"} xref: ICD10CM:E75.19 {source="DOID:3322"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D016537 {source="DOID:3322", source="MONDO:equivalentTo", source="ORDO:354/e", source="Orphanet:354"} +xref: MESH:D016537 {source="DOID:3322", source="Orphanet:354/e", source="MONDO:equivalentTo", source="Orphanet:354"} xref: NCIT:C84739 {source="DOID:3322", source="MONDO:equivalentTo"} -xref: OMIM:230500 {source="ORDO:354/btnt", source="DOID:3322", source="MONDO:superClassOf", source="Orphanet:354"} -xref: OMIM:230600 {source="ORDO:354/btnt", source="DOID:3322", source="MONDO:superClassOf", source="Orphanet:354"} -xref: OMIM:230650 {source="ORDO:354/btnt", source="DOID:3322", source="MONDO:superClassOf", source="Orphanet:354"} +xref: OMIM:230500 {source="DOID:3322", source="Orphanet:354/btnt", source="MONDO:superClassOf", source="Orphanet:354"} +xref: OMIM:230600 {source="DOID:3322", source="Orphanet:354/btnt", source="MONDO:superClassOf", source="Orphanet:354"} +xref: OMIM:230650 {source="DOID:3322", source="Orphanet:354/btnt", source="MONDO:superClassOf", source="Orphanet:354"} xref: Orphanet:354 {source="MONDO:equivalentTo"} xref: SCTID:124465002 {source="MONDO:equivalentTo"} xref: SCTID:238025006 {source="DOID:3322"} xref: SCTID:32917001 {source="DOID:3322"} -xref: UMLS:C0085131 {source="DOID:3322", source="MONDO:equivalentTo", source="NCIT:C84739", source="ORDO:354/e", source="Orphanet:354"} +xref: UMLS:C0085131 {source="DOID:3322", source="Orphanet:354/e", source="MONDO:equivalentTo", source="NCIT:C84739", source="Orphanet:354"} xref: UMLS:C0268271 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:354"} xref: UMLS:C2718068 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:354"} is_a: MONDO:0002561 {source="DOID:3322/inferred", source="MESH:D016537/inferred", source="MONDO:Redundant", source="NCIT:C84739", source="Orphanet:354/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease @@ -349881,23 +349720,23 @@ synonym: "lipoid histiocytosis (kerasin type)" EXACT [DOID:1926] synonym: "sphingolipidosis 1" RELATED [GARD:0008233] xref: DOID:1926 {source="MONDO:equivalentTo"} xref: GARD:0008233 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.2 {source="ORDO:355/inclusion", source="ORDO:355/ntbt", source="Orphanet:355"} +xref: ICD10CM:E75.2 {source="Orphanet:355/ntbt", source="Orphanet:355/inclusion", source="Orphanet:355"} xref: ICD10CM:E75.22 {source="MONDO:equivalentTo", source="DOID:1926"} -xref: MedDRA:10018048 {source="ORDO:355/e", source="Orphanet:355"} -xref: MESH:D005776 {source="MONDO:equivalentTo", source="ORDO:355/e", source="DOID:1926", source="Orphanet:355"} +xref: MedDRA:10018048 {source="Orphanet:355/e", source="Orphanet:355"} +xref: MESH:D005776 {source="Orphanet:355/e", source="MONDO:equivalentTo", source="DOID:1926", source="Orphanet:355"} xref: NCIT:C61268 {source="MONDO:equivalentTo", source="DOID:1926"} -xref: OMIM:230800 {source="MONDO:superClassOf", source="ORDO:355/btnt", source="Orphanet:355"} -xref: OMIM:230900 {source="MONDO:superClassOf", source="ORDO:355/btnt", source="Orphanet:355"} -xref: OMIM:231000 {source="MONDO:superClassOf", source="ORDO:355/btnt", source="Orphanet:355"} -xref: OMIM:231005 {source="MONDO:superClassOf", source="ORDO:355/btnt", source="Orphanet:355"} -xref: OMIM:608013 {source="MONDO:superClassOf", source="ORDO:355/btnt", source="Orphanet:355"} -xref: OMIM:610539 {source="MONDO:superClassOf", source="ORDO:355/btnt", source="Orphanet:355"} +xref: OMIM:230800 {source="MONDO:superClassOf", source="Orphanet:355/btnt", source="Orphanet:355"} +xref: OMIM:230900 {source="MONDO:superClassOf", source="Orphanet:355/btnt", source="Orphanet:355"} +xref: OMIM:231000 {source="MONDO:superClassOf", source="Orphanet:355/btnt", source="Orphanet:355"} +xref: OMIM:231005 {source="MONDO:superClassOf", source="Orphanet:355/btnt", source="Orphanet:355"} +xref: OMIM:608013 {source="MONDO:superClassOf", source="Orphanet:355/btnt", source="Orphanet:355"} +xref: OMIM:610539 {source="MONDO:superClassOf", source="Orphanet:355/btnt", source="Orphanet:355"} xref: Orphanet:355 {source="MONDO:equivalentTo", source="DOID:1926"} xref: SCTID:180485001 {source="DOID:1926"} xref: SCTID:190794006 {source="MONDO:equivalentTo", source="DOID:1926"} xref: SCTID:2859005 {source="DOID:1926"} xref: SCTID:62201009 {source="DOID:1926"} -xref: UMLS:C0017205 {source="MONDO:equivalentTo", source="ORDO:355/e", source="DOID:1926", source="NCIT:C61268", source="Orphanet:355"} +xref: UMLS:C0017205 {source="Orphanet:355/e", source="MONDO:equivalentTo", source="DOID:1926", source="NCIT:C61268", source="Orphanet:355"} is_a: MONDO:0002561 {source="DOID:1926/inferred", source="MESH:D005776/inferred", source="MONDO:Redundant", source="NCIT:C61268", source="Orphanet:355/inferred"} ! lysosomal storage disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0019255 {source="DOID:1926", source="MESH:D005776", source="NCIT:C61268", source="Orphanet:355", source="linkedlifedata"} ! sphingolipidosis @@ -349952,11 +349791,11 @@ synonym: "geographic serpiginous choroiditis" RELATED [GARD:0000031] synonym: "peripapillary choriopathy" RELATED [GARD:0000031] synonym: "serpiginous choroidopathy" RELATED [GARD:0000031] xref: GARD:0000031 {source="MONDO:equivalentTo"} -xref: ICD10CM:H30.8 {source="ORDO:35686/ntbt", source="Orphanet:35686"} +xref: ICD10CM:H30.8 {source="Orphanet:35686/ntbt", source="Orphanet:35686"} xref: ICD9:363.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:35686 {source="MONDO:equivalentTo"} xref: SCTID:312491004 {source="MONDO:equivalentTo"} -xref: UMLS:C0729842 {source="MONDO:equivalentTo", source="ORDO:35686/e", source="Orphanet:35686"} +xref: UMLS:C0729842 {source="Orphanet:35686/e", source="MONDO:equivalentTo", source="Orphanet:35686"} is_a: MONDO:0019541 {source="Orphanet:35686"} ! non-infectious posterior uveitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis xsd:anyURI {source="GARD:0000031"} @@ -349974,16 +349813,16 @@ synonym: "polyostotic sclerosing histiocytosis" EXACT [NCIT:C53972] xref: DOID:4329 {source="EFO:1000926", source="MONDO:equivalentTo"} xref: EFO:1000926 {source="MONDO:equivalentTo"} xref: GARD:0006369 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D76.3 {source="ORDO:35687/ntbt", source="Orphanet:35687"} +xref: ICD10CM:D76.3 {source="Orphanet:35687/ntbt", source="Orphanet:35687"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10060801 {source="EFO:1000926", source="ORDO:35687/e", source="Orphanet:35687"} -xref: MESH:D031249 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="ORDO:35687/e", source="Orphanet:35687"} +xref: MedDRA:10060801 {source="EFO:1000926", source="Orphanet:35687/e", source="Orphanet:35687"} +xref: MESH:D031249 {source="EFO:1000926", source="Orphanet:35687/e", source="MONDO:equivalentTo", source="DOID:4329", source="Orphanet:35687"} xref: NCIT:C53972 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="exact-label-match"} xref: ONCOTREE:ECD {source="MONDO:equivalentTo"} xref: Orphanet:35687 {source="MONDO:equivalentTo"} xref: SCTID:699537002 {source="MONDO:equivalentTo", source="DOID:4329"} xref: SCTID:703711007 {source="EFO:1000926", source="DOID:4329"} -xref: UMLS:C0878675 {source="MONDO:equivalentTo", source="DOID:4329", source="NCIT:C53972", source="ORDO:35687/e", source="Orphanet:35687"} +xref: UMLS:C0878675 {source="Orphanet:35687/e", source="MONDO:equivalentTo", source="DOID:4329", source="NCIT:C53972", source="Orphanet:35687"} is_a: MONDO:0015531 {source="DOID:4329", source="MESH:D031249", source="Orphanet:35687"} ! non-Langerhans cell histiocytosis is_a: MONDO:0017955 {source="Orphanet:35687"} ! granulomatous autoinflammatory syndrome relationship: disease_has_feature MONDO:0006247 {source="NCIT:C53972"} ! histiocytic and dendritic cell neoplasm @@ -349995,13 +349834,13 @@ name: Madelung deformity def: "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." [Orphanet:35688] subset: ordo_morphological_anomaly {source="Orphanet:35688"} xref: GARD:0012973 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q74.0 {source="Orphanet:35688", source="ORDO:35688/inclusion", source="ORDO:35688/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:35688", source="Orphanet:35688/ntbt", source="Orphanet:35688/inclusion"} xref: ICD9:755.54 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10007700 {source="Orphanet:35688", source="ORDO:35688/e"} -xref: OMIM:127300 {source="MONDO:subClassOf", source="Orphanet:35688", source="ORDO:35688/ntbt"} +xref: MedDRA:10007700 {source="Orphanet:35688", source="Orphanet:35688/e"} +xref: OMIM:127300 {source="MONDO:subClassOf", source="Orphanet:35688", source="Orphanet:35688/ntbt"} xref: Orphanet:35688 {source="MONDO:equivalentTo"} xref: SCTID:4530000 {source="MONDO:equivalentTo"} -xref: UMLS:C0152441 {source="Orphanet:35688", source="MONDO:notFoundInDiseaseSubset", source="ORDO:35688/e"} +xref: UMLS:C0152441 {source="Orphanet:35688", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35688/e"} is_a: MONDO:0007481 ! Leri-Weill dyschondrosteosis is_a: MONDO:0017429 {source="Orphanet:35688"} ! joint formation defects property_value: confidence "2.1999999999999997" xsd:double @@ -350017,13 +349856,13 @@ synonym: "PLS" EXACT ABBREVIATION [Orphanet:35689] synonym: "primary lateral sclerosis" EXACT [DOID:230, ICD9CM:335.24] xref: DOID:230 {source="MONDO:equivalentTo"} xref: GARD:0010684 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:35689", source="ORDO:35689/inclusion", source="ORDO:35689/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:35689", source="Orphanet:35689/ntbt", source="Orphanet:35689/inclusion"} xref: ICD10CM:G12.29 {source="DOID:230"} xref: ICD9:335.24 {source="MONDO:equivalentTo", source="i2s", source="DOID:230"} -xref: MedDRA:10036704 {source="Orphanet:35689", source="ORDO:35689/e"} +xref: MedDRA:10036704 {source="Orphanet:35689", source="Orphanet:35689/e"} xref: MESH:D016472 {source="MONDO:subClassOf", source="DOID:230"} xref: NCIT:C129933 {source="MONDO:equivalentTo"} -xref: OMIM:611637 {source="Orphanet:35689", source="MONDO:superClassOf", source="DOID:230", source="ORDO:35689/e"} +xref: OMIM:611637 {source="Orphanet:35689", source="Orphanet:35689/e", source="MONDO:superClassOf", source="DOID:230"} xref: Orphanet:35689 {source="MONDO:equivalentTo", source="DOID:230"} xref: SCTID:81211007 {source="MONDO:equivalentTo", source="DOID:230"} xref: UMLS:C0154682 {source="Orphanet:35689", source="MONDO:equivalentTo", source="DOID:230"} @@ -350039,7 +349878,7 @@ synonym: "3q26-q27microdeletion syndrome" EXACT [Orphanet:356947] synonym: "Del(3)(q26q27)" EXACT [Orphanet:356947] synonym: "monosomy 3q26-q27" EXACT [Orphanet:356947] synonym: "monosomy 3q26q27" EXACT [Orphanet:356947] -xref: ICD10CM:Q93.5 {source="ORDO:356947/attributed", source="ORDO:356947/ntbt", source="Orphanet:356947"} +xref: ICD10CM:Q93.5 {source="Orphanet:356947/attributed", source="Orphanet:356947/ntbt", source="Orphanet:356947"} xref: Orphanet:356947 {source="MONDO:equivalentTo"} xref: UMLS:CN204590 {source="MONDO:equivalentTo"} is_a: MONDO:0016902 {source="Orphanet:356947"} ! partial deletion of the long arm of chromosome 3 @@ -350055,7 +349894,7 @@ synonym: "combined oxidative phosphorylation defect" EXACT [Orphanet:35696] synonym: "combined OXPHOS defect" EXACT [Orphanet:35696] synonym: "combined OXPHOS deficiency" EXACT [Orphanet:35696] synonym: "COXPD" EXACT ABBREVIATION [Orphanet:35696] -xref: ICD10CM:E88.8 {source="ORDO:35696/attributed", source="ORDO:35696/ntbt", source="Orphanet:35696"} +xref: ICD10CM:E88.8 {source="Orphanet:35696/attributed", source="Orphanet:35696/ntbt", source="Orphanet:35696"} xref: Orphanet:35696 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227273 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -350071,11 +349910,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35698"} synonym: "mtDNA depletion syndrome" EXACT [Orphanet:35698] xref: DOID:0070329 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:35698/attributed", source="ORDO:35698/ntbt", source="Orphanet:35698"} -xref: MedDRA:10059396 {source="ORDO:35698/e", source="Orphanet:35698"} +xref: ICD10CM:G71.3 {source="Orphanet:35698/attributed", source="Orphanet:35698/ntbt", source="Orphanet:35698"} +xref: MedDRA:10059396 {source="Orphanet:35698/e", source="Orphanet:35698"} xref: OMIMPS:603041 {source="MONDO:equivalentTo"} xref: Orphanet:35698 {source="MONDO:equivalentTo"} -xref: UMLS:C0342782 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:35698/e", source="Orphanet:35698"} +xref: UMLS:C0342782 {source="Orphanet:35698/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35698"} xref: UMLS:CN239350 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:35698", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder relationship: excluded_subClassOf MONDO:0015188 {source="Orphanet:35698"} ! obsolete metabolic disorder with intestinal involvement @@ -350090,8 +349929,8 @@ synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008] xref: DOID:0080388 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.8 {source="Orphanet:357008", source="ORDO:357008/attributed", source="ORDO:357008/ntbt"} -xref: OMIM:615008 {source="MONDO:subClassOf", source="Orphanet:357008", source="ORDO:357008/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:357008/attributed", source="Orphanet:357008/ntbt", source="Orphanet:357008"} +xref: OMIM:615008 {source="MONDO:subClassOf", source="Orphanet:357008/ntbt", source="Orphanet:357008"} xref: Orphanet:357008 {source="MONDO:equivalentTo"} xref: UMLS:CN204596 {source="MONDO:equivalentTo"} is_a: MONDO:0016244 {source="Orphanet:357008"} ! atypical hemolytic-uremic syndrome @@ -350107,7 +349946,7 @@ synonym: "RB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180200] synonym: "retinoblastoma, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] synonym: "retinoblastoma, trilateral, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] xref: DOID:4648 {source="MONDO:equivalentTo"} -xref: ICD10CM:C69.2 {source="Orphanet:357027", source="ORDO:357027/attributed", source="ORDO:357027/ntbt"} +xref: ICD10CM:C69.2 {source="Orphanet:357027/attributed", source="Orphanet:357027/ntbt", source="Orphanet:357027"} xref: MESH:D012175 {source="MONDO:subClassOf", source="DOID:4648"} xref: NCIT:C8495 {source="MONDO:equivalentTo", source="DOID:4648"} xref: OMIM:180200 {source="Orphanet:357027", source="MONDO:equivalentTo"} @@ -350125,7 +349964,7 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2760# id: MONDO:0018161 name: non-hereditary retinoblastoma subset: ordo_clinical_subtype {source="Orphanet:357034"} -xref: ICD10CM:C69.2 {source="ORDO:357034/attributed", source="ORDO:357034/ntbt", source="Orphanet:357034"} +xref: ICD10CM:C69.2 {source="Orphanet:357034/attributed", source="Orphanet:357034/ntbt", source="Orphanet:357034"} xref: Orphanet:357034 {source="MONDO:equivalentTo"} xref: UMLS:CN204600 {source="MONDO:equivalentTo"} is_a: MONDO:0008380 {source="Orphanet:357034"} ! retinoblastoma @@ -350139,7 +349978,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:35705"} synonym: "neurometabolic disorder due to serine deficiency" EXACT CLINGEN_PREFERRED [] synonym: "serine deficiency" EXACT [Orphanet:35705] -xref: ICD10CM:E72.8 {source="Orphanet:35705", source="ORDO:35705/attributed", source="ORDO:35705/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:35705", source="Orphanet:35705/attributed", source="Orphanet:35705/ntbt"} xref: Orphanet:35705 {source="MONDO:equivalentTo"} xref: UMLS:CN227274 {source="MONDO:equivalentTo"} is_a: MONDO:0000421 ! inborn serine deficiency @@ -350166,9 +350005,9 @@ synonym: "cutis laxa, autosomal recessive, type IIA" EXACT [MONDO:Lexical, OMIM: synonym: "cutis laxa, debre type" EXACT [OMIM:219200] xref: DOID:0070134 {source="MONDO:equivalentTo"} xref: GARD:0001638 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:357058", source="DOID:0070134", source="ORDO:357058/attributed", source="ORDO:357058/ntbt"} -xref: OMIM:219200 {source="Orphanet:357058", source="DOID:0070134", source="MONDO:equivalentTo", source="ORDO:357058/btnt"} -xref: OMIM:278250 {source="Orphanet:357058", source="MONDO:superClassOf", source="ORDO:357058/btnt"} +xref: ICD10CM:Q82.8 {source="Orphanet:357058", source="Orphanet:357058/attributed", source="Orphanet:357058/ntbt", source="DOID:0070134"} +xref: OMIM:219200 {source="Orphanet:357058", source="Orphanet:357058/btnt", source="DOID:0070134", source="MONDO:equivalentTo"} +xref: OMIM:278250 {source="Orphanet:357058", source="Orphanet:357058/btnt", source="MONDO:superClassOf"} xref: Orphanet:357058 {source="MONDO:equivalentTo"} xref: UMLS:C0268355 {source="Orphanet:357058", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005066 ! metabolic disease @@ -350194,7 +350033,7 @@ synonym: "arterial scalenus anticus syndrome" EXACT [Orphanet:357107] synonym: "arterial thoracic outlet compression syndrome" EXACT [Orphanet:357107] synonym: "arterial TOS" EXACT [Orphanet:357107] synonym: "ATOS" EXACT ABBREVIATION [Orphanet:357107] -xref: ICD10CM:G54.0 {source="Orphanet:357107", source="ORDO:357107/ntbt"} +xref: ICD10CM:G54.0 {source="Orphanet:357107/ntbt", source="Orphanet:357107"} xref: Orphanet:357107 {source="MONDO:equivalentTo"} xref: SCTID:8051000119105 {source="MONDO:equivalentTo"} xref: UMLS:C1956395 {source="Orphanet:357107", source="MONDO:equivalentTo"} @@ -350214,7 +350053,7 @@ synonym: "Venous scalenus anticus syndrome" EXACT [Orphanet:357131] synonym: "Venous thoracic outlet compression syndrome" EXACT [Orphanet:357131] synonym: "Venous TOS" EXACT [Orphanet:357131] synonym: "VTOS" EXACT ABBREVIATION [Orphanet:357131] -xref: ICD10CM:G54.0 {source="ORDO:357131/ntbt", source="Orphanet:357131"} +xref: ICD10CM:G54.0 {source="Orphanet:357131/ntbt", source="Orphanet:357131"} xref: Orphanet:357131 {source="MONDO:equivalentTo"} xref: SCTID:25981000119102 {source="MONDO:equivalentTo"} xref: UMLS:C1956396 {source="MONDO:equivalentTo", source="Orphanet:357131"} @@ -350233,7 +350072,7 @@ synonym: "OSMF" EXACT ABBREVIATION [Orphanet:357154] xref: DOID:5773 {source="MONDO:equivalentTo"} xref: EFO:1001818 {source="MONDO:equivalentTo"} xref: GARD:0007264 {source="MONDO:equivalentTo"} -xref: ICD10CM:K13.5 {source="DOID:5773", source="MONDO:equivalentTo", source="Orphanet:357154", source="ORDO:357154/e"} +xref: ICD10CM:K13.5 {source="DOID:5773", source="Orphanet:357154/e", source="MONDO:equivalentTo", source="Orphanet:357154"} xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D009914 {source="DOID:5773", source="MONDO:equivalentTo"} xref: NCIT:C34866 {source="DOID:5773", source="MONDO:equivalentTo"} @@ -350250,7 +350089,7 @@ id: MONDO:0018167 name: primary essential cutis verticis gyrata def: "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." [Orphanet:357220] subset: ordo_disease {source="Orphanet:357220"} -xref: ICD10CM:Q82.8 {source="Orphanet:357220", source="ORDO:357220/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:357220/ntbt", source="Orphanet:357220"} xref: Orphanet:357220 {source="MONDO:equivalentTo"} xref: SCTID:765135003 {source="MONDO:equivalentTo"} xref: UMLS:CN204615 {source="MONDO:equivalentTo"} @@ -350260,7 +350099,7 @@ is_a: MONDO:0019033 {source="Orphanet:357220"} ! primary cutis verticis gyrata id: MONDO:0018168 name: primary non-essential cutis verticis gyrata subset: ordo_disease {source="Orphanet:357225"} -xref: ICD10CM:Q82.8 {source="Orphanet:357225", source="ORDO:357225/attributed", source="ORDO:357225/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:357225/attributed", source="Orphanet:357225/ntbt", source="Orphanet:357225"} xref: Orphanet:357225 {source="MONDO:equivalentTo"} xref: UMLS:CN204616 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:357225"} ! syndromic intellectual disability @@ -350277,11 +350116,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:35737"} synonym: "Ectasic coloboma" EXACT [Orphanet:35737] synonym: "Volubilis syndrome" EXACT [Orphanet:35737] xref: GARD:0013354 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q14.2 {source="Orphanet:35737", source="ORDO:35737/attributed", source="ORDO:35737/ntbt"} -xref: MedDRA:10027974 {source="ORDO:35737/e", source="Orphanet:35737"} -xref: OMIM:120430 {source="MONDO:subClassOf", source="Orphanet:35737", source="ORDO:35737/ntbt"} +xref: ICD10CM:Q14.2 {source="Orphanet:35737/attributed", source="Orphanet:35737/ntbt", source="Orphanet:35737"} +xref: MedDRA:10027974 {source="Orphanet:35737", source="Orphanet:35737/e"} +xref: OMIM:120430 {source="MONDO:subClassOf", source="Orphanet:35737/ntbt", source="Orphanet:35737"} xref: Orphanet:35737 {source="MONDO:equivalentTo"} -xref: UMLS:C0549307 {source="ORDO:35737/e", source="Orphanet:35737", source="MONDO:equivalentTo"} +xref: UMLS:C0549307 {source="Orphanet:35737", source="MONDO:equivalentTo", source="Orphanet:35737/e"} is_a: MONDO:0007354 ! coloboma of optic nerve is_a: MONDO:0020145 {source="MONDO:0020149-obsoleted"} ! developmental defect of the eye is_a: MONDO:0020249 {source="Orphanet:35737"} ! hereditary optic neuropathy @@ -350318,10 +350157,10 @@ synonym: "MOGCT" EXACT ABBREVIATION [Orphanet:35807] synonym: "ovarian germ cell cancer" EXACT [NCIT:C4514, Orphanet:35807] synonym: "ovary malignant germ cell tumor" EXACT [MONDO:patterns/location] xref: DOID:2155 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:35807/ntbt", source="Orphanet:35807"} +xref: ICD10CM:C56 {source="Orphanet:35807", source="Orphanet:35807/ntbt"} xref: MESH:C562841 {source="DOID:2155"} xref: NCIT:C4514 {source="DOID:2155", source="MONDO:equivalentTo"} -xref: OMIM:603737 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="ORDO:35807/e", source="Orphanet:35807"} +xref: OMIM:603737 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:35807", source="Orphanet:35807/e"} xref: Orphanet:35807 {source="MONDO:equivalentTo"} xref: SCTID:254869000 {source="DOID:2155", source="MONDO:equivalentTo"} xref: UMLS:C0346180 {source="DOID:2155", source="MONDO:equivalentTo", source="Orphanet:35807", source="NCIT:C4514"} @@ -350346,7 +350185,7 @@ synonym: "malignant ovarian sex cord-stromal tumor" EXACT [Orphanet:35808] synonym: "malignant Sex cord-stromal tumor of ovary" EXACT [NCIT:C8053] synonym: "malignant Sex cord-stromal tumor of the ovary" EXACT [NCIT:C8053] synonym: "ovarian sex cord-stromal tumor, malignant" EXACT [MONDO:patterns/malignant] -xref: ICD10CM:C56 {source="ORDO:35808/ntbt", source="Orphanet:35808"} +xref: ICD10CM:C56 {source="Orphanet:35808/ntbt", source="Orphanet:35808"} xref: NCIT:C8053 {source="MONDO:equivalentTo"} xref: Orphanet:35808 {source="MONDO:equivalentTo"} xref: UMLS:C1334609 {source="MONDO:equivalentTo", source="NCIT:C8053"} @@ -350362,9 +350201,9 @@ id: MONDO:0018173 name: acute opioid poisoning def: "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." [Orphanet:35889] subset: ordo_disease {source="Orphanet:35889"} -xref: ICD10CM:T40.0 {source="Orphanet:35889", source="ORDO:35889/btnt"} -xref: ICD10CM:T40.1 {source="Orphanet:35889", source="ORDO:35889/btnt"} -xref: ICD10CM:T40.2 {source="Orphanet:35889", source="ORDO:35889/btnt"} +xref: ICD10CM:T40.0 {source="Orphanet:35889", source="Orphanet:35889/btnt"} +xref: ICD10CM:T40.1 {source="Orphanet:35889", source="Orphanet:35889/btnt"} +xref: ICD10CM:T40.2 {source="Orphanet:35889", source="Orphanet:35889/btnt"} xref: Orphanet:35889 {source="MONDO:equivalentTo"} xref: UMLS:CN227277 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="Orphanet:35889"} ! poisoning @@ -350398,10 +350237,10 @@ synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE synonym: "F5F8D" EXACT ABBREVIATION [Orphanet:35909] synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909] synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909] -xref: ICD10CM:D68.8 {source="ORDO:35909/attributed", source="ORDO:35909/ntbt", source="Orphanet:35909"} -xref: OMIM:227300 {source="ORDO:35909/btnt", source="MONDO:superClassOf", source="Orphanet:35909"} -xref: OMIM:227310 {source="ORDO:35909/btnt", source="MONDO:superClassOf", source="Orphanet:35909"} -xref: OMIM:613625 {source="ORDO:35909/btnt", source="MONDO:superClassOf", source="Orphanet:35909"} +xref: ICD10CM:D68.8 {source="Orphanet:35909/attributed", source="Orphanet:35909/ntbt", source="Orphanet:35909"} +xref: OMIM:227300 {source="MONDO:superClassOf", source="Orphanet:35909/btnt", source="Orphanet:35909"} +xref: OMIM:227310 {source="MONDO:superClassOf", source="Orphanet:35909/btnt", source="Orphanet:35909"} +xref: OMIM:613625 {source="MONDO:superClassOf", source="Orphanet:35909/btnt", source="Orphanet:35909"} xref: Orphanet:35909 {source="MONDO:equivalentTo"} xref: SCTID:715559004 {source="MONDO:equivalentTo"} xref: UMLS:C1856883 {source="MONDO:equivalentTo", source="Orphanet:35909"} @@ -350439,16 +350278,16 @@ xref: DOID:3068 {source="MONDO:equivalentTo"} xref: GARD:0002491 {source="MONDO:equivalentTo"} xref: HP:0012174 {source="MONDO:otherHierarchy"} xref: HP:0100843 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C71.9 {source="ORDO:360/ntbt", source="Orphanet:360"} +xref: ICD10CM:C71.9 {source="Orphanet:360", source="Orphanet:360/ntbt"} xref: ICDO:9440/3 {source="NCIT:C3058"} -xref: MedDRA:10018336 {source="ORDO:360/e", source="Orphanet:360"} -xref: MedDRA:10018337 {source="ORDO:360/e", source="Orphanet:360"} -xref: MESH:D005909 {source="DOID:3068", source="ORDO:360/e", source="Orphanet:360"} +xref: MedDRA:10018336 {source="Orphanet:360", source="Orphanet:360/e"} +xref: MedDRA:10018337 {source="Orphanet:360", source="Orphanet:360/e"} +xref: MESH:D005909 {source="DOID:3068", source="Orphanet:360", source="Orphanet:360/e"} xref: NCIT:C3058 {source="DOID:3068", source="MONDO:equivalentTo"} xref: NCIT:C39750 {source="DOID:3068"} xref: NCIT:C9094 {source="DOID:3068"} -xref: OMIM:137800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:360/ntbt", source="Orphanet:360"} -xref: OMIM:613029 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:360/ntbt", source="Orphanet:360"} +xref: OMIM:137800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:360", source="Orphanet:360/ntbt"} +xref: OMIM:613029 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:360", source="Orphanet:360/ntbt"} xref: ONCOTREE:GB {source="MONDO:equivalentTo"} xref: ONCOTREE:GBM {source="MONDO:equivalentTo"} xref: Orphanet:360 {source="MONDO:equivalentTo"} @@ -350456,10 +350295,10 @@ xref: SCTID:189917003 {source="DOID:3068"} xref: SCTID:269506004 {source="DOID:3068"} xref: SCTID:393563007 {source="MONDO:equivalentTo"} xref: SCTID:63634009 {source="DOID:3068"} -xref: UMLS:C0017636 {source="DOID:3068", source="MONDO:equivalentTo", source="ORDO:360/e", source="Orphanet:360", source="NCIT:C3058"} +xref: UMLS:C0017636 {source="DOID:3068", source="MONDO:equivalentTo", source="Orphanet:360", source="NCIT:C3058", source="Orphanet:360/e"} xref: UMLS:C0278878 {source="DOID:3068", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1514422 {source="DOID:3068", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1621958 {source="MONDO:equivalentTo", source="ORDO:360/e", source="Orphanet:360"} +xref: UMLS:C1621958 {source="MONDO:equivalentTo", source="Orphanet:360", source="Orphanet:360/e"} xref: UMLS:CN227279 {source="MONDO:equivalentTo"} is_a: MONDO:0016680 {source="NCIT:C3058", source="Orphanet:360"} ! high grade astrocytic tumor relationship: has_modifier MONDO:0024494 {source="NCIT:C3058"} ! tumor grade 4, general grading system @@ -350475,13 +350314,13 @@ synonym: "intestinal lymphangiectasia" EXACT [MONDO:ambiguous] synonym: "intestinal lymphangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0012331 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002593 {source="MONDO:otherHierarchy"} -xref: ICD10CM:I89.0 {source="ORDO:36204/ntbt", source="Orphanet:36204"} +xref: ICD10CM:I89.0 {source="Orphanet:36204/ntbt", source="Orphanet:36204"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10025213 {source="ORDO:36204/e", source="Orphanet:36204"} -xref: MESH:D008201 {source="ORDO:36204/e", source="Orphanet:36204"} +xref: MedDRA:10025213 {source="Orphanet:36204/e", source="Orphanet:36204"} +xref: MESH:D008201 {source="Orphanet:36204/e", source="Orphanet:36204"} xref: Orphanet:36204 {source="MONDO:equivalentTo"} xref: SCTID:197260007 {source="MONDO:equivalentTo"} -xref: UMLS:C0024215 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:36204/e", source="Orphanet:36204"} +xref: UMLS:C0024215 {source="Orphanet:36204/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36204"} is_a: MONDO:0005020 {source="Orphanet:36204"} ! intestinal disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: IAO:0000589 "intestinal lymphangiectasia (disease)" xsd:string @@ -350496,7 +350335,7 @@ replaced_by: MONDO:0001881 id: MONDO:0018180 name: staphylococcal scarlet fever subset: ordo_disease {source="Orphanet:36235"} -xref: ICD10CM:A38 {source="ORDO:36235/ntbt", source="MONDO:relatedTo", source="Orphanet:36235"} +xref: ICD10CM:A38 {source="MONDO:relatedTo", source="Orphanet:36235/ntbt", source="Orphanet:36235"} xref: Orphanet:36235 {source="MONDO:equivalentTo"} xref: UMLS:CN204670 {source="MONDO:equivalentTo"} is_a: MONDO:0017592 {source="Orphanet:36235"} ! staphylococcal toxemia @@ -350517,17 +350356,17 @@ synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063] synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [DOID:9063] xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"} xref: EFO:0007473 {source="MONDO:equivalentTo"} -xref: ICD10CM:L00 {source="DOID:9063", source="MONDO:equivalentTo", source="ORDO:36236/e", source="Orphanet:36236"} +xref: ICD10CM:L00 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="Orphanet:36236"} xref: ICD9:695.81 {source="DOID:9063", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10041929 {source="ORDO:36236/e", source="Orphanet:36236"} -xref: MESH:D013206 {source="DOID:9063", source="MONDO:equivalentTo", source="ORDO:36236/e", source="EFO:0007473", source="Orphanet:36236"} +xref: MedDRA:10041929 {source="Orphanet:36236/e", source="Orphanet:36236"} +xref: MESH:D013206 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="EFO:0007473", source="Orphanet:36236"} xref: NCIT:C85077 {source="DOID:9063", source="MONDO:equivalentTo"} xref: Orphanet:36236 {source="MONDO:equivalentTo"} xref: SCTID:200946001 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:277475006 {source="MONDO:equivalentTo"} xref: SCTID:367537006 {source="DOID:9063"} xref: SCTID:87758007 {source="DOID:9063"} -xref: UMLS:C0038165 {source="DOID:9063", source="MONDO:equivalentTo", source="NCIT:C85077", source="ORDO:36236/e", source="Orphanet:36236"} +xref: UMLS:C0038165 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="NCIT:C85077", source="Orphanet:36236"} xref: UMLS:C0678185 {source="MONDO:equivalentTo"} is_a: MONDO:0000315 {source="DOID:9063"} ! commensal bacterial infectious disease is_a: MONDO:0005093 {source="DOID:9063", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disorder @@ -350543,12 +350382,12 @@ id: MONDO:0018182 name: bullous impetigo def: "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus." [Orphanet:36237] subset: ordo_disease {source="Orphanet:36237"} -xref: ICD10CM:L01.0 {source="ORDO:36237/ntbt", source="Orphanet:36237"} +xref: ICD10CM:L01.0 {source="Orphanet:36237/ntbt", source="Orphanet:36237"} xref: ICD10CM:L01.03 {source="MONDO:equivalentTo"} -xref: MedDRA:10006563 {source="ORDO:36237/e", source="Orphanet:36237"} +xref: MedDRA:10006563 {source="Orphanet:36237/e", source="Orphanet:36237"} xref: Orphanet:36237 {source="MONDO:equivalentTo"} xref: SCTID:399183005 {source="MONDO:equivalentTo"} -xref: UMLS:C0021100 {source="MONDO:equivalentTo", source="ORDO:36237/e", source="Orphanet:36237"} +xref: UMLS:C0021100 {source="Orphanet:36237/e", source="MONDO:equivalentTo", source="Orphanet:36237"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0017592 {source="Orphanet:36237"} ! staphylococcal toxemia @@ -350557,7 +350396,7 @@ id: MONDO:0018183 name: staphylococcal necrotizing pneumonia def: "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." [Orphanet:36238] subset: ordo_disease {source="Orphanet:36238"} -xref: ICD10CM:J15.2 {source="Orphanet:36238", source="ORDO:36238/ntbt"} +xref: ICD10CM:J15.2 {source="Orphanet:36238", source="Orphanet:36238/ntbt"} xref: Orphanet:36238 {source="MONDO:equivalentTo"} xref: SCTID:763888005 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="Orphanet:36238"} ! respiratory system disorder @@ -350570,7 +350409,7 @@ def: "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrativ subset: ordo_clinical_situation {source="Orphanet:36273"} synonym: "Borrmann gastric cancer type 4" EXACT [Orphanet:36273] synonym: "linitis plastica of the stomach" EXACT [Orphanet:36273] -xref: ICD10CM:C16.9 {source="ORDO:36273/ntbt", source="Orphanet:36273"} +xref: ICD10CM:C16.9 {source="Orphanet:36273", source="Orphanet:36273/ntbt"} xref: Orphanet:36273 {source="MONDO:equivalentTo"} xref: SCTID:721629005 {source="MONDO:equivalentTo"} xref: UMLS:CN204677 {source="MONDO:equivalentTo"} @@ -350596,7 +350435,7 @@ comment: Reason: grouping class. This term is from orphanet and refers specifica subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363203"} synonym: "supernumerary circular chromosome" BROAD [NCIT:C3360] -xref: ICD10CM:Q93.2 {source="ORDO:363203/attributed", source="ORDO:363203/ntbt", source="Orphanet:363203"} +xref: ICD10CM:Q93.2 {source="Orphanet:363203", source="Orphanet:363203/attributed", source="Orphanet:363203/ntbt"} xref: MESH:D012303 {source="MONDO:subClassOf"} xref: NCIT:C3360 {source="MONDO:subClassOf"} xref: Orphanet:363203 {source="MONDO:obsoleteEquivalent"} @@ -350622,7 +350461,7 @@ name: genetic intestinal polyposis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363314"} synonym: "familial intestinal polyposis" EXACT [Orphanet:363314] -xref: ICD10CM:D12.6 {source="ORDO:363314/attributed", source="ORDO:363314/ntbt", source="Orphanet:363314"} +xref: ICD10CM:D12.6 {source="Orphanet:363314", source="Orphanet:363314/attributed", source="Orphanet:363314/ntbt"} xref: Orphanet:363314 {source="MONDO:equivalentTo"} xref: UMLS:C2713443 {source="MONDO:equivalentTo", source="Orphanet:363314"} is_a: MONDO:0005020 {source="Orphanet:363314"} ! intestinal disorder @@ -350636,9 +350475,9 @@ id: MONDO:0018189 name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome def: "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." [Orphanet:363429] subset: ordo_disease {source="Orphanet:363429"} -xref: ICD10CM:G11.1 {source="Orphanet:363429", source="ORDO:363429/attributed", source="ORDO:363429/ntbt"} -xref: OMIM:614831 {source="MONDO:superClassOf", source="Orphanet:363429", source="ORDO:363429/btnt"} -xref: OMIM:616204 {source="MONDO:superClassOf", source="Orphanet:363429", source="ORDO:363429/btnt"} +xref: ICD10CM:G11.1 {source="Orphanet:363429/attributed", source="Orphanet:363429/ntbt", source="Orphanet:363429"} +xref: OMIM:614831 {source="MONDO:superClassOf", source="Orphanet:363429/btnt", source="Orphanet:363429"} +xref: OMIM:616204 {source="MONDO:superClassOf", source="Orphanet:363429/btnt", source="Orphanet:363429"} xref: Orphanet:363429 {source="MONDO:equivalentTo"} xref: UMLS:CN204693 {source="MONDO:equivalentTo"} is_a: MONDO:0019216 {source="Orphanet:363429"} ! inborn disorder of amino acid absorption and transport @@ -350651,9 +350490,9 @@ subset: ordo_disease {source="Orphanet:363447"} synonym: "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" EXACT [Orphanet:363447] synonym: "SMALED" EXACT ABBREVIATION [Orphanet:363447] synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [OMIMPS:158600] -xref: ICD10CM:G12.1 {source="ORDO:363447/attributed", source="ORDO:363447/ntbt", source="Orphanet:363447"} -xref: OMIM:158600 {source="ORDO:363447/btnt", source="MONDO:superClassOf", source="Orphanet:363447"} -xref: OMIM:615290 {source="ORDO:363447/btnt", source="MONDO:superClassOf", source="Orphanet:363447"} +xref: ICD10CM:G12.1 {source="Orphanet:363447", source="Orphanet:363447/attributed", source="Orphanet:363447/ntbt"} +xref: OMIM:158600 {source="MONDO:superClassOf", source="Orphanet:363447", source="Orphanet:363447/btnt"} +xref: OMIM:615290 {source="MONDO:superClassOf", source="Orphanet:363447", source="Orphanet:363447/btnt"} xref: OMIMPS:158600 {source="MONDO:equivalentTo"} xref: Orphanet:363447 {source="MONDO:equivalentTo"} xref: UMLS:C1834690 {source="MONDO:superClassOf", source="Orphanet:363447"} @@ -350678,11 +350517,11 @@ name: paratesticular adenocarcinoma subset: ordo_disease {source="Orphanet:363478"} synonym: "adenocarcinoma of paratestis" EXACT [Orphanet:363478] synonym: "adenocarcinoma of the paratestis" EXACT [Orphanet:363478] -xref: ICD10CM:C63.0 {source="ORDO:363478/btnt", source="Orphanet:363478"} -xref: ICD10CM:C63.1 {source="ORDO:363478/btnt", source="Orphanet:363478"} -xref: ICD10CM:C63.2 {source="ORDO:363478/btnt", source="Orphanet:363478"} -xref: ICD10CM:C63.7 {source="ORDO:363478/btnt", source="Orphanet:363478"} -xref: ICD10CM:C63.8 {source="ORDO:363478/btnt", source="Orphanet:363478"} +xref: ICD10CM:C63.0 {source="Orphanet:363478", source="Orphanet:363478/btnt"} +xref: ICD10CM:C63.1 {source="Orphanet:363478", source="Orphanet:363478/btnt"} +xref: ICD10CM:C63.2 {source="Orphanet:363478", source="Orphanet:363478/btnt"} +xref: ICD10CM:C63.7 {source="Orphanet:363478", source="Orphanet:363478/btnt"} +xref: ICD10CM:C63.8 {source="Orphanet:363478", source="Orphanet:363478/btnt"} xref: Orphanet:363478 {source="MONDO:equivalentTo"} is_a: MONDO:0018191 {source="Orphanet:363478"} ! tumor of testis and paratestis @@ -350696,9 +350535,9 @@ synonym: "testicular teratoma" EXACT [MONDO:ambiguous] synonym: "testicular teratoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1000573 {source="MONDO:equivalentTo"} xref: HP:0100616 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C62.9 {source="Orphanet:363483", source="ORDO:363483/ntbt"} +xref: ICD10CM:C62.9 {source="Orphanet:363483", source="Orphanet:363483/ntbt"} xref: NCIT:C3877 {source="EFO:1000573", source="MONDO:equivalentTo"} -xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:363483", source="ORDO:363483/ntbt"} +xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:363483", source="Orphanet:363483/ntbt"} xref: Orphanet:363483 {source="MONDO:equivalentTo"} xref: UMLS:C0238451 {source="Orphanet:363483", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3877"} is_a: MONDO:0005040 {source="EFO:1000573", source="NCIT:C3877/inferred"} ! germ cell tumor @@ -350729,7 +350568,7 @@ id: MONDO:0018197 name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form subset: ordo_disease {source="Orphanet:363534"} synonym: "mtDNA depletion syndrome, hepatocerebrorenal form" EXACT [Orphanet:363534] -xref: ICD10CM:E88.8 {source="ORDO:363534/attributed", source="ORDO:363534/ntbt", source="Orphanet:363534"} +xref: ICD10CM:E88.8 {source="Orphanet:363534", source="Orphanet:363534/attributed", source="Orphanet:363534/ntbt"} xref: Orphanet:363534 {source="MONDO:equivalentTo"} xref: UMLS:CN204706 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -350745,7 +350584,7 @@ subset: ordo_disease {source="Orphanet:363549"} synonym: "acute infantile encephalopathy predominantly affecting the frontal lobes" EXACT [Orphanet:363549] synonym: "AESD" EXACT ABBREVIATION [Orphanet:363549] synonym: "AIEF" EXACT ABBREVIATION [Orphanet:363549] -xref: ICD10CM:G40.4 {source="ORDO:363549/ntbt", source="Orphanet:363549"} +xref: ICD10CM:G40.4 {source="Orphanet:363549/ntbt", source="Orphanet:363549"} xref: Orphanet:363549 {source="MONDO:equivalentTo"} xref: SCTID:766044005 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome @@ -350812,7 +350651,7 @@ name: LMNA-related cardiocutaneous progeria syndrome def: "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." [Orphanet:363618] subset: ordo_disease {source="Orphanet:363618"} synonym: "LCPS" EXACT ABBREVIATION [Orphanet:363618] -xref: ICD10CM:E34.8 {source="ORDO:363618/attributed", source="ORDO:363618/ntbt", source="Orphanet:363618"} +xref: ICD10CM:E34.8 {source="Orphanet:363618/attributed", source="Orphanet:363618/ntbt", source="Orphanet:363618"} xref: Orphanet:363618 {source="MONDO:equivalentTo"} xref: UMLS:CN204714 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! Mendelian disease @@ -350826,7 +350665,7 @@ name: 20q11.2 microduplication syndrome def: "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." [Orphanet:363659] subset: ordo_malformation_syndrome {source="Orphanet:363659"} synonym: "dup(20)(q11.2)" EXACT [Orphanet:363659] -xref: ICD10CM:Q93.5 {source="ORDO:363659/attributed", source="ORDO:363659/ntbt", source="Orphanet:363659"} +xref: ICD10CM:Q93.5 {source="Orphanet:363659/attributed", source="Orphanet:363659/ntbt", source="Orphanet:363659"} xref: Orphanet:363659 {source="MONDO:equivalentTo"} xref: SCTID:763061004 {source="MONDO:equivalentTo"} xref: UMLS:CN204718 {source="MONDO:equivalentTo"} @@ -350847,8 +350686,8 @@ synonym: "distal deletion 1q" EXACT [Orphanet:36367] synonym: "distal monosomy type 1q" EXACT [MONDORULE:4, Orphanet:36367] synonym: "monosomy 1qter" EXACT [Orphanet:36367] synonym: "telomeric deletion 1q" EXACT [Orphanet:36367] -xref: ICD10CM:Q93.5 {source="ORDO:36367/attributed", source="ORDO:36367/ntbt", source="Orphanet:36367"} -xref: OMIM:612337 {source="MONDO:subClassOf", source="ORDO:36367/ntbt", source="MONDO:relatedTo", source="Orphanet:36367"} +xref: ICD10CM:Q93.5 {source="Orphanet:36367/attributed", source="Orphanet:36367/ntbt", source="Orphanet:36367"} +xref: OMIM:612337 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:36367/ntbt", source="Orphanet:36367"} xref: Orphanet:36367 {source="MONDO:equivalentTo"} xref: SCTID:717633007 {source="MONDO:equivalentTo"} xref: UMLS:C4273897 {source="MONDO:equivalentTo"} @@ -350865,8 +350704,8 @@ property_value: confidence "24.666666666666668" xsd:double id: MONDO:0018206 name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia subset: ordo_disease {source="Orphanet:363677"} -xref: ICD10CM:G71.2 {source="ORDO:363677/attributed", source="ORDO:363677/ntbt", source="Orphanet:363677"} -xref: OMIM:605637 {source="MONDO:subClassOf", source="ORDO:363677/ntbt", source="Orphanet:363677"} +xref: ICD10CM:G71.2 {source="Orphanet:363677", source="Orphanet:363677/attributed", source="Orphanet:363677/ntbt"} +xref: OMIM:605637 {source="MONDO:subClassOf", source="Orphanet:363677", source="Orphanet:363677/ntbt"} xref: Orphanet:363677 {source="MONDO:equivalentTo"} is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia is_a: MONDO:0015368 ! neuro-ophthalmological disease @@ -350879,7 +350718,7 @@ name: 2p13.2 microdeletion syndrome def: "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." [Orphanet:363680] subset: ordo_malformation_syndrome {source="Orphanet:363680"} synonym: "Del(2)(p13.2)" EXACT [Orphanet:363680] -xref: ICD10CM:Q93.5 {source="Orphanet:363680", source="ORDO:363680/attributed", source="ORDO:363680/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:363680", source="Orphanet:363680/attributed", source="Orphanet:363680/ntbt"} xref: Orphanet:363680 {source="MONDO:equivalentTo"} xref: UMLS:CN204723 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:363680"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -350896,8 +350735,8 @@ name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion subset: ordo_etiological_subtype {source="Orphanet:363700"} synonym: "Von Recklinghausen disease due to NF1 mutation or intragenic deletion" EXACT [Orphanet:363700] xref: DOID:0111253 {source="MONDO:subClassOf"} -xref: ICD10CM:Q85.0 {source="ORDO:363700/attributed", source="ORDO:363700/ntbt", source="Orphanet:363700"} -xref: OMIM:162200 {source="MONDO:subClassOf", source="Orphanet:363700", source="ORDO:363700/e"} +xref: ICD10CM:Q85.0 {source="Orphanet:363700", source="Orphanet:363700/attributed", source="Orphanet:363700/ntbt"} +xref: OMIM:162200 {source="MONDO:subClassOf", source="Orphanet:363700", source="Orphanet:363700/e"} xref: Orphanet:363700 {source="MONDO:equivalentTo"} xref: UMLS:CN204726 {source="MONDO:equivalentTo"} is_a: MONDO:0018975 {source="Orphanet:363700"} ! neurofibromatosis type 1 @@ -350908,7 +350747,7 @@ name: Alexander disease type I def: "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." [Orphanet:363717] subset: ordo_clinical_subtype {source="Orphanet:363717"} synonym: "AxD type I" EXACT [Orphanet:363717] -xref: ICD10CM:E75.2 {source="ORDO:363717/attributed", source="ORDO:363717/ntbt", source="Orphanet:363717"} +xref: ICD10CM:E75.2 {source="Orphanet:363717/attributed", source="Orphanet:363717/ntbt", source="Orphanet:363717"} xref: OMIM:203450 {source="MONDO:subClassOf", source="Orphanet:363717"} xref: Orphanet:363717 {source="MONDO:equivalentTo"} xref: UMLS:CN204729 {source="MONDO:equivalentTo"} @@ -350920,7 +350759,7 @@ name: Alexander disease type II def: "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." [Orphanet:363722] subset: ordo_clinical_subtype {source="Orphanet:363722"} synonym: "AxD type II" EXACT [Orphanet:363722] -xref: ICD10CM:E75.2 {source="ORDO:363722/attributed", source="ORDO:363722/ntbt", source="Orphanet:363722"} +xref: ICD10CM:E75.2 {source="Orphanet:363722", source="Orphanet:363722/attributed", source="Orphanet:363722/ntbt"} xref: OMIM:203450 {source="MONDO:subClassOf", source="Orphanet:363722"} xref: Orphanet:363722 {source="MONDO:equivalentTo"} xref: UMLS:CN204730 {source="MONDO:equivalentTo"} @@ -350935,7 +350774,7 @@ subset: ordo_disease {source="Orphanet:363746"} synonym: "Balint-Holmes syndrome" EXACT [Orphanet:363746] synonym: "optic ataxia-gaze apraxia-simultanagnosia syndrome" EXACT [Orphanet:363746] synonym: "psychic paralysis of visual fixation" EXACT [MONDO:cjm, PMID:13208876] -xref: ICD10CM:H51.8 {source="ORDO:363746/ntbt", source="Orphanet:363746"} +xref: ICD10CM:H51.8 {source="Orphanet:363746", source="Orphanet:363746/ntbt"} xref: Orphanet:363746 {source="MONDO:equivalentTo"} xref: SCTID:765212008 {source="MONDO:equivalentTo"} xref: UMLS:C0270706 {source="MONDO:equivalentObsolete", source="Orphanet:363746"} @@ -350952,8 +350791,8 @@ subset: ordo_disease {source="Orphanet:36382"} synonym: "familial CAD" EXACT [Orphanet:36382] synonym: "hereditary CAD" EXACT [Orphanet:36382] synonym: "hereditary cervical artery dissection" EXACT [MONDO:patterns/hereditary, Orphanet:36382] -xref: ICD10CM:I72.0 {source="Orphanet:36382", source="ORDO:36382/attributed", source="ORDO:36382/ntbt"} -xref: ICD10CM:I72.5 {source="Orphanet:36382", source="ORDO:36382/attributed", source="ORDO:36382/ntbt"} +xref: ICD10CM:I72.0 {source="Orphanet:36382", source="Orphanet:36382/attributed", source="Orphanet:36382/ntbt"} +xref: ICD10CM:I72.5 {source="Orphanet:36382", source="Orphanet:36382/attributed", source="Orphanet:36382/ntbt"} xref: Orphanet:36382 {source="MONDO:equivalentTo"} xref: UMLS:CN204734 {source="MONDO:equivalentTo"} is_a: MONDO:0015953 {source="Orphanet:36382"} ! genetic central nervous system and retinal vascular disease @@ -350977,18 +350816,18 @@ synonym: "neuropathy hereditary sensory radicular, autosomal dominant" RELATED [ xref: DOID:0070162 {source="MONDO:equivalentTo"} xref: GARD:0006635 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:6635 {source="DOID:0070162"} -xref: ICD10CM:G60.8 {source="ORDO:36386/attributed", source="ORDO:36386/ntbt", source="Orphanet:36386"} -xref: OMIM:162400 {source="ORDO:36386/btnt", source="MONDO:superClassOf", source="Orphanet:36386"} -xref: OMIM:613640 {source="ORDO:36386/btnt", source="MONDO:superClassOf", source="Orphanet:36386"} -xref: OMIM:613708 {source="ORDO:36386/btnt", source="MONDO:superClassOf", source="Orphanet:36386"} -xref: OMIM:615632 {source="ORDO:36386/btnt", source="MONDO:superClassOf", source="Orphanet:36386"} +xref: ICD10CM:G60.8 {source="Orphanet:36386/attributed", source="Orphanet:36386/ntbt", source="Orphanet:36386"} +xref: OMIM:162400 {source="MONDO:superClassOf", source="Orphanet:36386/btnt", source="Orphanet:36386"} +xref: OMIM:613640 {source="MONDO:superClassOf", source="Orphanet:36386/btnt", source="Orphanet:36386"} +xref: OMIM:613708 {source="MONDO:superClassOf", source="Orphanet:36386/btnt", source="Orphanet:36386"} +xref: OMIM:615632 {source="MONDO:superClassOf", source="Orphanet:36386/btnt", source="Orphanet:36386"} xref: Orphanet:36386 {source="MONDO:equivalentTo", source="DOID:0070162"} xref: PMID:18348718 {source="DOID:0070162"} xref: SCTID:230553002 {source="DOID:0070162"} xref: SCTID:397734008 {source="MONDO:equivalentTo", source="DOID:0070162"} xref: SCTID:52647008 {source="DOID:0070162"} xref: SCTID:87920002 {source="DOID:0070162"} -xref: UMLS:C0020071 {source="ORDO:36386/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36386", source="DOID:0070162"} +xref: UMLS:C0020071 {source="Orphanet:36386/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36386", source="DOID:0070162"} is_a: MONDO:0015364 {source="DOID:0070162", source="Orphanet:36386/inferred"} ! hereditary sensory and autonomic neuropathy is_a: MONDO:0015365 {source="Orphanet:36386"} ! autosomal dominant hereditary sensory and autonomic neuropathy is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis @@ -351005,18 +350844,18 @@ synonym: "generalized epilepsy with febrile seizures-plus" RELATED [Orphanet:363 synonym: "genetic epilepsy with febrile seizures plus" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] synonym: "genetic epilepsy with febrile seizures-plus" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] xref: DOID:0060170 {source="MONDO:equivalentTo"} -xref: ICD10CM:G40.3 {source="ORDO:36387/attributed", source="ORDO:36387/ntbt", source="DOID:0060170", source="Orphanet:36387"} +xref: ICD10CM:G40.3 {source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/attributed", source="Orphanet:36387/ntbt"} xref: MESH:C565808 {source="MONDO:equivalentTo"} xref: NCIT:C122811 {source="MONDO:equivalentTo"} -xref: OMIM:604233 {source="MONDO:superClassOf", source="ORDO:36387/e", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:604403 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:609800 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:611277 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:612279 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:613060 {source="MONDO:subClassOf", source="ORDO:36387/ntbt", source="MONDO:superClassOf", source="Orphanet:36387"} -xref: OMIM:613828 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:613863 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} -xref: OMIM:616172 {source="ORDO:36387/btnt", source="MONDO:superClassOf", source="Orphanet:36387"} +xref: OMIM:604233 {source="Orphanet:36387/e", source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387"} +xref: OMIM:604403 {source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/btnt"} +xref: OMIM:609800 {source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/btnt"} +xref: OMIM:611277 {source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/btnt"} +xref: OMIM:612279 {source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/btnt"} +xref: OMIM:613060 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:36387", source="Orphanet:36387/ntbt"} +xref: OMIM:613828 {source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/btnt"} +xref: OMIM:613863 {source="MONDO:superClassOf", source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/btnt"} +xref: OMIM:616172 {source="MONDO:superClassOf", source="Orphanet:36387", source="Orphanet:36387/btnt"} xref: OMIMPS:604233 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="MONDO:equivalentTo", source="DOID:0060170"} xref: SCTID:699688008 {source="MONDO:equivalentTo"} @@ -351041,12 +350880,12 @@ synonym: "PCD" EXACT ABBREVIATION [Orphanet:36388] synonym: "PNS" EXACT ABBREVIATION [Orphanet:36388] xref: GARD:0007326 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD9:331.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10072106 {source="ORDO:36388/e", source="Orphanet:36388"} +xref: MedDRA:10072106 {source="Orphanet:36388/e", source="Orphanet:36388"} xref: Orphanet:36388 {source="MONDO:equivalentTo"} xref: SCTID:192877007 {source="MONDO:equivalentTo"} xref: UMLS:C0393534 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36388"} xref: UMLS:C0751911 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36388"} -xref: UMLS:C3267031 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:36388/e", source="Orphanet:36388"} +xref: UMLS:C3267031 {source="Orphanet:36388/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:36388"} is_a: MONDO:0005071 {source="Orphanet:36388"} ! nervous system disorder is_a: MONDO:0021073 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! paraneoplastic syndrome intersection_of: MONDO:0021073 ! paraneoplastic syndrome @@ -351061,7 +350900,7 @@ synonym: "Del(17)(q21.31)" EXACT [Orphanet:363958] synonym: "monosomy 17q21.31" EXACT [Orphanet:363958] xref: DOID:0050880 {source="MONDO:equivalentTo"} xref: DOID:0070076 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:Q93.5 {source="ORDO:363958/attributed", source="ORDO:363958/ntbt", source="Orphanet:363958"} +xref: ICD10CM:Q93.5 {source="Orphanet:363958/attributed", source="Orphanet:363958/ntbt", source="Orphanet:363958"} xref: MESH:C566476 {source="MONDO:equivalentTo"} xref: OMIM:610443 {source="MONDO:subClassOf", source="Orphanet:363958"} xref: Orphanet:363958 {source="MONDO:equivalentTo"} @@ -351079,7 +350918,7 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/4174 id: MONDO:0018217 name: Koolen-de Vries syndrome due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:363965"} -xref: ICD10CM:Q93.5 {source="ORDO:363965/attributed", source="ORDO:363965/ntbt", source="Orphanet:363965"} +xref: ICD10CM:Q93.5 {source="Orphanet:363965/attributed", source="Orphanet:363965/ntbt", source="Orphanet:363965"} xref: Orphanet:363965 {source="MONDO:equivalentTo"} xref: UMLS:CN204741 {source="MONDO:equivalentTo"} is_a: MONDO:0012496 {source="Orphanet:363965"} ! Koolen-de Vries syndrome @@ -351089,7 +350928,7 @@ relationship: has_modifier SO:1000008 ! point_mutation id: MONDO:0018218 name: autosomal recessive cerebral atrophy subset: ordo_disease {source="Orphanet:363969"} -xref: ICD10CM:G31.8 {source="ORDO:363969/attributed", source="ORDO:363969/ntbt", source="Orphanet:363969"} +xref: ICD10CM:G31.8 {source="Orphanet:363969/attributed", source="Orphanet:363969/ntbt", source="Orphanet:363969"} xref: Orphanet:363969 {source="MONDO:equivalentTo"} xref: UMLS:CN204742 {source="MONDO:equivalentTo"} is_a: MONDO:0024237 {source="Orphanet:363969"} ! inherited neurodegenerative disorder @@ -351105,7 +350944,7 @@ synonym: "IHF" EXACT ABBREVIATION [Orphanet:364013] synonym: "immune fetal edema" EXACT [Orphanet:364013] synonym: "immune fetal hydrops" EXACT [Orphanet:364013] synonym: "immune HF" EXACT [Orphanet:364013] -xref: ICD10CM:P56.0 {source="Orphanet:364013", source="ORDO:364013/e"} +xref: ICD10CM:P56.0 {source="Orphanet:364013", source="Orphanet:364013/e"} xref: ICD9:773.3 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C111904 {source="MONDO:equivalentTo"} xref: Orphanet:364013 {source="MONDO:equivalentTo"} @@ -351117,8 +350956,8 @@ is_a: MONDO:0015193 {source="NCIT:C111904", source="Orphanet:364013", source="li id: MONDO:0018222 name: X-linked intellectual disability due to GRIA3 anomalies subset: ordo_disease {source="Orphanet:364028"} -xref: ICD10CM:F72 {source="ORDO:364028/attributed", source="ORDO:364028/ntbt", source="Orphanet:364028"} -xref: OMIM:300699 {source="Orphanet:364028", source="MONDO:superClassOf", source="ORDO:364028/e"} +xref: ICD10CM:F72 {source="Orphanet:364028", source="Orphanet:364028/attributed", source="Orphanet:364028/ntbt"} +xref: OMIM:300699 {source="Orphanet:364028", source="MONDO:superClassOf", source="Orphanet:364028/e"} xref: Orphanet:364028 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:364028"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:364028"} ! X-linked syndromic intellectual disability @@ -351134,7 +350973,7 @@ synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [DOID:007032 synonym: "systemic EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [Orphanet:364033] synonym: "systemic EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80374] xref: DOID:0070324 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.9 {source="Orphanet:364033", source="DOID:0070324", source="ORDO:364033/ntbt"} +xref: ICD10CM:D47.9 {source="Orphanet:364033", source="Orphanet:364033/ntbt", source="DOID:0070324"} xref: ICDO:9724/3 {source="NCIT:C80374"} xref: MESH:D008232 {source="DOID:0070324"} xref: NCIT:C80374 {source="DOID:0070324", source="MONDO:equivalentTo"} @@ -351160,7 +350999,7 @@ synonym: "hydroa vacciniforme-like cutaneous T-cell lymphoma" EXACT [NCIT:C45327 synonym: "hydroa vacciniforme-like lymphoma" EXACT [NCIT:C45327] synonym: "hydroa vacciniforme-like lymphoproliferative disorder" EXACT [NCIT:C45327] synonym: "hydroa-like cutaneous T-cell lymphoma" EXACT [Orphanet:364039] -xref: ICD10CM:C84.5 {source="ORDO:364039/ntbt", source="Orphanet:364039"} +xref: ICD10CM:C84.5 {source="Orphanet:364039", source="Orphanet:364039/ntbt"} xref: ICDO:9725/3 {source="NCIT:C45327"} xref: NCIT:C45327 {source="MONDO:equivalentTo"} xref: Orphanet:364039 {source="MONDO:equivalentTo"} @@ -351181,7 +351020,7 @@ synonym: "ALK-DLBCL" EXACT [NCIT:C7225] synonym: "ALK-positive large B-cell lymphoma" EXACT [NCIT:C7225] synonym: "diffuse large B-cell lymphoma with expression of full-length ALK" EXACT [NCIT:C7225] synonym: "diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase" EXACT [NCIT:C7225] -xref: ICD10CM:C83.3 {source="Orphanet:364043", source="ORDO:364043/ntbt"} +xref: ICD10CM:C83.3 {source="Orphanet:364043", source="Orphanet:364043/ntbt"} xref: ICDO:9737/3 {source="NCIT:C7225"} xref: NCIT:C7225 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:364043 {source="MONDO:equivalentTo"} @@ -351194,8 +351033,8 @@ id: MONDO:0018226 name: infantile epileptic-dyskinetic encephalopathy def: "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." [Orphanet:364063] subset: ordo_disease {source="Orphanet:364063"} -xref: ICD10CM:G40.4 {source="ORDO:364063/attributed", source="ORDO:364063/ntbt", source="Orphanet:364063"} -xref: OMIM:308350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:364063/ntbt", source="Orphanet:364063"} +xref: ICD10CM:G40.4 {source="Orphanet:364063/attributed", source="Orphanet:364063/ntbt", source="Orphanet:364063"} +xref: OMIM:308350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:364063/ntbt", source="Orphanet:364063"} xref: Orphanet:364063 {source="MONDO:equivalentTo"} is_a: MONDO:0018329 {source="Orphanet:364063"} ! persistent combined dystonia relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:364063"} ! ARX-related epileptic encephalopathy @@ -351214,7 +351053,7 @@ synonym: "Mac Duffie syndrome" EXACT [Orphanet:36412] synonym: "McDuffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412] synonym: "McDuffie syndrome" EXACT [Orphanet:36412] xref: GARD:0006725 {source="MONDO:equivalentTo"} -xref: ICD10CM:M31.8 {source="ORDO:36412/ntbt", source="Orphanet:36412"} +xref: ICD10CM:M31.8 {source="Orphanet:36412/ntbt", source="Orphanet:36412"} xref: Orphanet:36412 {source="MONDO:equivalentTo"} xref: SCTID:239945009 {source="MONDO:equivalentTo"} xref: UMLS:C0343206 {source="GARD:0006725", source="MONDO:equivalentTo"} @@ -351228,7 +351067,7 @@ id: MONDO:0018228 name: bipartite talus def: "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." [Orphanet:364198] subset: ordo_morphological_anomaly {source="Orphanet:364198"} -xref: ICD10CM:Q66.8 {source="Orphanet:364198", source="ORDO:364198/attributed", source="ORDO:364198/ntbt"} +xref: ICD10CM:Q66.8 {source="Orphanet:364198", source="Orphanet:364198/attributed", source="Orphanet:364198/ntbt"} xref: Orphanet:364198 {source="MONDO:equivalentTo"} xref: SCTID:763128009 {source="MONDO:equivalentTo"} xref: UMLS:CN227287 {source="MONDO:equivalentTo"} @@ -351250,16 +351089,16 @@ synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [OMIM:608579] xref: DOID:0050426 {source="EFO:0004276", source="MONDO:equivalentTo"} xref: EFO:0004276 {source="MONDO:equivalentTo", source="DOID:0050426"} xref: GARD:0007700 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L51.1 {source="Orphanet:36426", source="MONDO:equivalentTo", source="DOID:0050426", source="ORDO:36426/ntbt"} +xref: ICD10CM:L51.1 {source="Orphanet:36426", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo", source="DOID:0050426"} xref: ICD10CM:L51.2 {source="DOID:0050426"} xref: ICD9:695.12 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:695.13 {source="EFO:0004276", source="MONDO:equivalentTo", source="i2s", source="DOID:0050426"} xref: ICD9:695.15 {source="MONDO:subClassOf", source="DOID:0050426"} -xref: MedDRA:10042033 {source="Orphanet:36426", source="ORDO:36426/e"} -xref: MESH:D013262 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426", source="ORDO:36426/e"} +xref: MedDRA:10042033 {source="Orphanet:36426", source="Orphanet:36426/e"} +xref: MESH:D013262 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="Orphanet:36426/e", source="DOID:0050426"} xref: NCIT:C79484 {source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426"} xref: NCIT:C79777 {source="MONDO:subClassOf", source="DOID:0050426"} -xref: OMIM:608579 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="ORDO:36426/ntbt"} +xref: OMIM:608579 {source="Orphanet:36426", source="EFO:0004276", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:36426 {source="OMIM:608579", source="MONDO:equivalentTo"} xref: SCTID:156362004 {source="DOID:0050426"} xref: SCTID:200919006 {source="DOID:0050426"} @@ -351269,7 +351108,7 @@ xref: SCTID:267848009 {source="DOID:0050426"} xref: SCTID:403609001 {source="DOID:0050426"} xref: SCTID:73442001 {source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426"} xref: UMLS:C0014518 {source="MONDO:subClassOf", source="DOID:0050426"} -xref: UMLS:C0038325 {source="Orphanet:36426", source="NCIT:C79484", source="MONDO:equivalentTo", source="DOID:0050426", source="ORDO:36426/e"} +xref: UMLS:C0038325 {source="Orphanet:36426", source="NCIT:C79484", source="MONDO:equivalentTo", source="Orphanet:36426/e", source="DOID:0050426"} xref: UMLS:C1274933 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050426"} xref: UMLS:C1837818 {source="OMIM:608579", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1840548 {source="OMIM:608579", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -351424,7 +351263,7 @@ id: MONDO:0018241 name: primary short bowel syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:365563"} -xref: ICD10CM:Q41.0 {source="Orphanet:365563", source="ORDO:365563/attributed", source="ORDO:365563/ntbt"} +xref: ICD10CM:Q41.0 {source="Orphanet:365563/attributed", source="Orphanet:365563/ntbt", source="Orphanet:365563"} xref: Orphanet:365563 {source="MONDO:equivalentTo"} xref: UMLS:CN204780 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="Orphanet:365563"} ! intestinal disorder @@ -351439,10 +351278,10 @@ subset: ordo_disease {source="Orphanet:36913"} synonym: "autoimmune hypoparathyroidism" EXACT [MONDO:ambiguous] synonym: "autoimmune hypoparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0011771 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E20.8 {source="Orphanet:36913", source="ORDO:36913/ntbt"} +xref: ICD10CM:E20.8 {source="Orphanet:36913/ntbt", source="Orphanet:36913"} xref: Orphanet:36913 {source="MONDO:equivalentTo"} xref: SCTID:75316000 {source="MONDO:equivalentTo"} -xref: UMLS:C0271865 {source="ORDO:36913/e", source="Orphanet:36913", source="MONDO:equivalentTo"} +xref: UMLS:C0271865 {source="Orphanet:36913", source="MONDO:equivalentTo", source="Orphanet:36913/e"} is_a: MONDO:0001220 {source="Orphanet:36913"} ! hypoparathyroidism intersection_of: MONDO:0001220 ! hypoparathyroidism intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -351453,8 +351292,8 @@ property_value: IAO:0000589 "autoimmune hypoparathyroidism (disease)" xsd:string id: MONDO:0018243 name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome subset: ordo_disease {source="Orphanet:369847"} -xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="ORDO:369847/attributed", source="ORDO:369847/ntbt", source="Orphanet:369847"} -xref: OMIM:615356 {source="Orphanet:369847", source="MONDO:superClassOf", source="ORDO:369847/w"} +xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:369847", source="Orphanet:369847/attributed", source="Orphanet:369847/ntbt"} +xref: OMIM:615356 {source="Orphanet:369847", source="MONDO:superClassOf", source="Orphanet:369847/w"} xref: Orphanet:369847 {source="MONDO:equivalentTo"} xref: UMLS:CN204803 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:369847"} ! syndromic intellectual disability @@ -351465,7 +351304,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015957", source="MONDO: id: MONDO:0018244 name: obesity due to SIM1 deficiency subset: ordo_disease {source="Orphanet:369873"} -xref: ICD10CM:E66.8 {source="Orphanet:369873", source="ORDO:369873/attributed", source="ORDO:369873/ntbt"} +xref: ICD10CM:E66.8 {source="Orphanet:369873", source="Orphanet:369873/attributed", source="Orphanet:369873/ntbt"} xref: Orphanet:369873 {source="MONDO:equivalentTo"} is_a: MONDO:0020075 {source="Orphanet:369873"} ! genetic non-syndromic obesity intersection_of: MONDO:0020075 ! genetic non-syndromic obesity @@ -351477,7 +351316,7 @@ name: 2p21 microdeletion syndrome without cystinuria def: "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." [Orphanet:369881] subset: ordo_malformation_syndrome {source="Orphanet:369881"} synonym: "Del(2)(p21) without cystinuria" EXACT [Orphanet:369881] -xref: ICD10CM:Q93.5 {source="Orphanet:369881", source="ORDO:369881/attributed", source="ORDO:369881/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:369881/attributed", source="Orphanet:369881/ntbt", source="Orphanet:369881"} xref: Orphanet:369881 {source="MONDO:equivalentTo"} xref: UMLS:CN204807 {source="MONDO:equivalentTo"} is_a: MONDO:0018246 {source="Orphanet:369881"} ! homozygous 2p21 microdeletion syndrome @@ -351491,7 +351330,7 @@ name: homozygous 2p21 microdeletion syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:369886"} synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886] -xref: ICD10CM:Q93.5 {source="Orphanet:369886", source="ORDO:369886/attributed", source="ORDO:369886/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:369886/attributed", source="Orphanet:369886/ntbt", source="Orphanet:369886"} xref: OMIM:606407 {source="MONDO:relatedTo"} xref: Orphanet:369886 {source="MONDO:equivalentTo"} xref: UMLS:CN204808 {source="MONDO:equivalentTo"} @@ -351509,8 +351348,8 @@ synonym: "CADDS" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affilia synonym: "contiguous ABCD1 DXS1357E deletion syndrome" EXACT [Orphanet:369942] synonym: "Zellweger-like contiguous gene deletion syndrome" EXACT [Orphanet:369942] xref: GARD:0012472 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:369942", source="ORDO:369942/attributed", source="ORDO:369942/ntbt"} -xref: OMIM:300475 {source="MONDO:subClassOf", source="Orphanet:369942", source="ORDO:369942/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:369942", source="Orphanet:369942/attributed", source="Orphanet:369942/ntbt"} +xref: OMIM:300475 {source="MONDO:subClassOf", source="Orphanet:369942", source="Orphanet:369942/ntbt"} xref: Orphanet:369942 {source="MONDO:equivalentTo"} xref: UMLS:C1845408 {source="Orphanet:369942", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN180200 {source="MONDO:equivalentTo"} @@ -351528,7 +351367,7 @@ name: intellectual disability-seizures-macrocephaly-obesity syndrome def: "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." [Orphanet:369950] subset: ordo_disease {source="Orphanet:369950"} synonym: "Der(8)t(8;12)" EXACT [Orphanet:369950] -xref: ICD10CM:Q87.8 {source="Orphanet:369950", source="ORDO:369950/attributed", source="ORDO:369950/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:369950", source="Orphanet:369950/attributed", source="Orphanet:369950/ntbt"} xref: Orphanet:369950 {source="MONDO:equivalentTo"} xref: UMLS:CN204818 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369950", source="indirect"} ! syndromic intellectual disability @@ -351540,7 +351379,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO: id: MONDO:0018249 name: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome subset: ordo_malformation_syndrome {source="Orphanet:369979"} -xref: ICD10CM:Q87.2 {source="ORDO:369979/attributed", source="ORDO:369979/ntbt", source="Orphanet:369979"} +xref: ICD10CM:Q87.2 {source="Orphanet:369979", source="Orphanet:369979/attributed", source="Orphanet:369979/ntbt"} xref: Orphanet:369979 {source="MONDO:equivalentTo"} xref: UMLS:CN204822 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -351549,8 +351388,8 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0018250 name: diffuse palmoplantar keratoderma with painful fissures subset: ordo_disease {source="Orphanet:369999"} -xref: ICD10CM:Q82.8 {source="Orphanet:369999", source="ORDO:369999/attributed", source="ORDO:369999/ntbt"} -xref: OMIM:148700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:369999", source="ORDO:369999/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:369999/attributed", source="Orphanet:369999/ntbt", source="Orphanet:369999"} +xref: OMIM:148700 {source="MONDO:subClassOf", source="Orphanet:369999/ntbt", source="MONDO:relatedTo", source="Orphanet:369999"} xref: Orphanet:369999 {source="MONDO:equivalentTo"} xref: UMLS:CN204824 {source="MONDO:equivalentTo"} is_a: MONDO:0020093 {source="Orphanet:369999"} ! autosomal dominant isolated diffuse palmoplantar keratoderma @@ -351577,13 +351416,13 @@ synonym: "GSDIX" EXACT ABBREVIATION [https://www.ncbi.nlm.nih.gov/books/NBK55061 synonym: "gycogenosis due to PhK deficiency" EXACT [Orphanet:370] synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, NCIT:C122662] xref: DOID:0050594 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:370/ntbt", source="Orphanet:370", source="ORDO:370/inclusion"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:370/inclusion", source="Orphanet:370", source="Orphanet:370/ntbt"} xref: MESH:C580130 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C122662 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:370 {source="MONDO:obsoleteEquivalent"} xref: SCTID:235908005 {source="MONDO:obsoleteEquivalent", source="MONDO:preferredExternal"} xref: SCTID:40191005 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0268147 {source="MONDO:obsoleteEquivalent", source="ORDO:370/e", source="NCIT:C122662", source="Orphanet:370"} +xref: UMLS:C0268147 {source="MONDO:obsoleteEquivalent", source="NCIT:C122662", source="Orphanet:370", source="Orphanet:370/e"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string is_obsolete: true @@ -351593,8 +351432,8 @@ consider: MONDO:0002412 id: MONDO:0018252 name: focal palmoplantar keratoderma with joint keratoses subset: ordo_disease {source="Orphanet:370002"} -xref: ICD10CM:Q82.8 {source="ORDO:370002/attributed", source="ORDO:370002/ntbt", source="Orphanet:370002"} -xref: OMIM:148700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:370002/ntbt", source="Orphanet:370002"} +xref: ICD10CM:Q82.8 {source="Orphanet:370002", source="Orphanet:370002/attributed", source="Orphanet:370002/ntbt"} +xref: OMIM:148700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:370002", source="Orphanet:370002/ntbt"} xref: Orphanet:370002 {source="MONDO:equivalentTo"} xref: UMLS:CN204827 {source="MONDO:equivalentTo"} is_a: MONDO:0017673 {source="Orphanet:370002"} ! isolated focal palmoplantar keratoderma @@ -351604,7 +351443,7 @@ property_value: confidence "2.888888888888888" xsd:double id: MONDO:0018253 name: intellectual disability-facial dysmorphism-hand anomalies syndrome subset: ordo_malformation_syndrome {source="Orphanet:370010"} -xref: ICD10CM:Q87.0 {source="Orphanet:370010", source="ORDO:370010/attributed", source="ORDO:370010/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:370010/attributed", source="Orphanet:370010/ntbt", source="Orphanet:370010"} xref: Orphanet:370010 {source="MONDO:equivalentTo"} xref: UMLS:CN204829 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:370010", source="indirect"} ! syndromic intellectual disability @@ -351615,7 +351454,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO: id: MONDO:0018254 name: spondyloepimetaphyseal dysplasia, Isidor type subset: ordo_disease {source="Orphanet:370015"} -xref: ICD10CM:Q77.8 {source="ORDO:370015/attributed", source="ORDO:370015/ntbt", source="Orphanet:370015"} +xref: ICD10CM:Q77.8 {source="Orphanet:370015/attributed", source="Orphanet:370015/ntbt", source="Orphanet:370015"} xref: Orphanet:370015 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:370015"} ! spondyloepiphyseal dysplasia @@ -351623,7 +351462,7 @@ is_a: MONDO:0016761 {source="Orphanet:370015"} ! spondyloepiphyseal dysplasia id: MONDO:0018255 name: spondylometaphyseal dysplasia, Czarny-Ratajczak type subset: ordo_disease {source="Orphanet:370019"} -xref: ICD10CM:Q77.8 {source="ORDO:370019/attributed", source="ORDO:370019/ntbt", source="Orphanet:370019"} +xref: ICD10CM:Q77.8 {source="Orphanet:370019/attributed", source="Orphanet:370019/ntbt", source="Orphanet:370019"} xref: Orphanet:370019 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:370019"} ! spondylometaphyseal dysplasia @@ -351633,7 +351472,7 @@ name: acute myeloid leukemia with t(8;16)(p11;p13) translocation def: "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." [Orphanet:370026] subset: ordo_disease {source="Orphanet:370026"} synonym: "AML with t(8;16)(p11;p13) translocation" EXACT [Orphanet:370026] -xref: ICD10CM:C92.0 {source="ORDO:370026/ntbt", source="Orphanet:370026"} +xref: ICD10CM:C92.0 {source="Orphanet:370026/ntbt", source="Orphanet:370026"} xref: Orphanet:370026 {source="MONDO:equivalentTo"} xref: SCTID:725390002 {source="MONDO:equivalentTo"} xref: UMLS:C4511003 {source="MONDO:equivalentTo"} @@ -351646,7 +351485,7 @@ name: familial syringomyelia def: "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_clinical_subtype {source="Orphanet:370034"} synonym: "hereditary syringomyelia" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:Q06.4 {source="ORDO:370034/attributed", source="ORDO:370034/ntbt", source="Orphanet:370034"} +xref: ICD10CM:Q06.4 {source="Orphanet:370034", source="Orphanet:370034/attributed", source="Orphanet:370034/ntbt"} xref: Orphanet:370034 {source="MONDO:equivalentTo"} xref: UMLS:CN204832 {source="MONDO:equivalentTo"} is_a: MONDO:0020508 {source="Orphanet:370034"} ! primary syringomyelia @@ -351658,7 +351497,7 @@ id: MONDO:0018258 name: Angora hair nevus subset: ordo_disease {source="Orphanet:370039"} synonym: "Schauder syndrome" EXACT [Orphanet:370039] -xref: ICD10CM:Q82.5 {source="ORDO:370039/ntbt", source="Orphanet:370039"} +xref: ICD10CM:Q82.5 {source="Orphanet:370039/ntbt", source="Orphanet:370039"} xref: Orphanet:370039 {source="MONDO:equivalentTo"} xref: UMLS:CN204833 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:370039"} ! melanocytic nevus @@ -351669,7 +351508,7 @@ id: MONDO:0018259 name: didymosis aplasticosebacea subset: ordo_disease {source="Orphanet:370046"} synonym: "aplasia cutis congenita-nevus sebaceus syndrome" EXACT [Orphanet:370046] -xref: ICD10CM:Q84.8 {source="ORDO:370046/ntbt", source="Orphanet:370046"} +xref: ICD10CM:Q84.8 {source="Orphanet:370046", source="Orphanet:370046/ntbt"} xref: Orphanet:370046 {source="MONDO:equivalentTo"} xref: UMLS:CN204834 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:370046"} ! melanocytic nevus @@ -351681,7 +351520,7 @@ name: scalp syndrome subset: ordo_disease {source="Orphanet:370052"} synonym: "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052] synonym: "sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052] -xref: ICD10CM:Q84.8 {source="Orphanet:370052", source="ORDO:370052/ntbt"} +xref: ICD10CM:Q84.8 {source="Orphanet:370052", source="Orphanet:370052/ntbt"} xref: Orphanet:370052 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:370052"} ! melanocytic nevus relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare @@ -351692,7 +351531,7 @@ name: Nevada syndrome def: "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." [Orphanet:370059] subset: ordo_disease {source="Orphanet:370059"} synonym: "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" EXACT [Orphanet:370059] -xref: ICD10CM:Q84.8 {source="ORDO:370059/ntbt", source="Orphanet:370059"} +xref: ICD10CM:Q84.8 {source="Orphanet:370059/ntbt", source="Orphanet:370059"} xref: Orphanet:370059 {source="MONDO:equivalentTo"} xref: UMLS:CN204836 {source="MONDO:equivalentTo"} is_a: MONDO:0005073 {source="Orphanet:370059"} ! melanocytic nevus @@ -351706,7 +351545,7 @@ subset: ordo_group_of_disorders {source="Orphanet:370068"} synonym: "FACS" EXACT ABBREVIATION [Orphanet:370068] synonym: "fetal AEDS" EXACT [Orphanet:370068] synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068] -xref: ICD10CM:Q86.8 {source="ORDO:370068/ntbt", source="Orphanet:370068"} +xref: ICD10CM:Q86.8 {source="Orphanet:370068", source="Orphanet:370068/ntbt"} xref: Orphanet:370068 {source="MONDO:equivalentTo"} xref: UMLS:C1739111 {source="MONDO:equivalentTo", source="Orphanet:370068"} is_a: MONDO:0016677 {source="Orphanet:370068"} ! toxic or drug-related embryofetopathy @@ -351716,7 +351555,7 @@ id: MONDO:0018263 name: fetal carbamazepine syndrome def: "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." [Orphanet:370076] subset: ordo_disease {source="Orphanet:370076"} -xref: ICD10CM:Q86.8 {source="Orphanet:370076", source="ORDO:370076/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:370076/ntbt", source="Orphanet:370076"} xref: ICD9:760.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:370076 {source="MONDO:equivalentTo"} xref: SCTID:254249002 {source="MONDO:equivalentTo"} @@ -351731,11 +351570,10 @@ def: "A form of oculocutaneous albinism characterized by light hair at birth tha subset: ordo_disease {source="Orphanet:370097"} synonym: "albinism, oculocutaneous, type VI" RELATED [OMIM:113750] synonym: "OCA6" EXACT ABBREVIATION [OMIM:113750, Orphanet:370097] -synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750] synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750, OMIM:genemap2] xref: DOID:0080614 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:370097", source="ORDO:370097/attributed", source="ORDO:370097/ntbt"} -xref: OMIM:113750 {source="Orphanet:370097", source="MONDO:equivalentTo", source="ORDO:370097/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:370097/attributed", source="Orphanet:370097/ntbt", source="Orphanet:370097"} +xref: OMIM:113750 {source="Orphanet:370097/ntbt", source="Orphanet:370097", source="MONDO:equivalentTo"} xref: Orphanet:370097 {source="MONDO:equivalentTo", source="OMIM:113750"} xref: SCTID:722058005 {source="MONDO:equivalentTo"} xref: UMLS:C2676042 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:113750"} @@ -351762,7 +351600,7 @@ name: ataxia - telangiectasia variant def: "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." [Orphanet:370109] subset: ordo_disease {source="Orphanet:370109"} synonym: "v-AT" EXACT [Orphanet:370109] -xref: ICD10CM:G11.3 {source="Orphanet:370109", source="ORDO:370109/attributed", source="ORDO:370109/ntbt"} +xref: ICD10CM:G11.3 {source="Orphanet:370109", source="Orphanet:370109/attributed", source="Orphanet:370109/ntbt"} xref: Orphanet:370109 {source="MONDO:equivalentTo"} xref: UMLS:C1876175 {source="Orphanet:370109", source="MONDO:equivalentTo"} is_a: MONDO:0018329 {source="Orphanet:370109"} ! persistent combined dystonia @@ -351772,7 +351610,7 @@ relationship: disease_shares_features_of MONDO:0008840 {source="https://github.c id: MONDO:0018267 name: combined cervical dystonia subset: ordo_disease {source="Orphanet:370114"} -xref: ICD10CM:G24.3 {source="ORDO:370114/attributed", source="ORDO:370114/ntbt", source="Orphanet:370114"} +xref: ICD10CM:G24.3 {source="Orphanet:370114/attributed", source="Orphanet:370114/ntbt", source="Orphanet:370114"} xref: Orphanet:370114 {source="MONDO:equivalentTo"} is_a: MONDO:0018329 {source="Orphanet:370114"} ! persistent combined dystonia @@ -351782,7 +351620,7 @@ name: Medich giant platelet syndrome def: "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." [Orphanet:370127] subset: ordo_disease {source="Orphanet:370127"} synonym: "Medich macrothrombocytopenia" EXACT [Orphanet:370127] -xref: ICD10CM:D69.1 {source="ORDO:370127/attributed", source="ORDO:370127/ntbt", source="Orphanet:370127"} +xref: ICD10CM:D69.1 {source="Orphanet:370127/attributed", source="Orphanet:370127/ntbt", source="Orphanet:370127"} xref: Orphanet:370127 {source="MONDO:equivalentTo"} xref: SCTID:718554005 {source="MONDO:equivalentTo"} xref: UMLS:C4305375 {source="MONDO:equivalentTo"} @@ -351798,7 +351636,7 @@ subset: gard_rare {source="GARD:0009282"} subset: ordo_disease {source="Orphanet:370131"} synonym: "platelet granule deficiency disorder" RELATED [GARD:0009282] xref: GARD:0009282 {source="MONDO:equivalentTo"} -xref: ICD10CM:D69.1 {source="Orphanet:370131", source="ORDO:370131/attributed", source="ORDO:370131/ntbt"} +xref: ICD10CM:D69.1 {source="Orphanet:370131/attributed", source="Orphanet:370131/ntbt", source="Orphanet:370131"} xref: MESH:C536702 {source="MONDO:equivalentTo"} xref: Orphanet:370131 {source="MONDO:equivalentTo"} xref: SCTID:718553004 {source="MONDO:equivalentTo"} @@ -351822,7 +351660,7 @@ synonym: "extraskeletal Ewing sarcoma" EXACT [NCIT:C7135] synonym: "extraskeletal Ewing tumor" EXACT [Orphanet:370334] synonym: "extraskeletal Ewing's sarcoma" EXACT [NCIT:C7135] xref: DOID:4232 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:370334/ntbt", source="Orphanet:370334"} +xref: ICD10CM:C49.9 {source="Orphanet:370334/ntbt", source="Orphanet:370334"} xref: NCIT:C27293 {source="MONDO:subClassOf", source="DOID:4232"} xref: NCIT:C7135 {source="MONDO:equivalentTo"} xref: Orphanet:370334 {source="MONDO:equivalentTo"} @@ -351848,7 +351686,7 @@ synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341] synonym: "PPNET" EXACT ABBREVIATION [Orphanet:370348] synonym: "pPNET" EXACT [NCIT:C9341] -xref: ICD10CM:C71.9 {source="Orphanet:370348", source="ORDO:370348/ntbt"} +xref: ICD10CM:C71.9 {source="Orphanet:370348/ntbt", source="Orphanet:370348"} xref: ICDO:9364/3 {source="NCIT:C9341"} xref: NCIT:C9341 {source="MONDO:0021039", source="MONDO:equivalentTo"} xref: Orphanet:370348 {source="MONDO:equivalentTo"} @@ -351872,7 +351710,7 @@ id: MONDO:0018273 name: XYLT1-CDG subset: ordo_disease {source="Orphanet:370930"} synonym: "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" EXACT [MEDGEN:C4750849] -xref: ICD10CM:E77.8 {source="ORDO:370930/attributed", source="ORDO:370930/ntbt", source="Orphanet:370930"} +xref: ICD10CM:E77.8 {source="Orphanet:370930/attributed", source="Orphanet:370930/ntbt", source="Orphanet:370930"} xref: Orphanet:370930 {source="MONDO:equivalentTo"} xref: UMLS:CN204859 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:370930"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -351903,8 +351741,8 @@ synonym: "SPDRS" EXACT ABBREVIATION [OMIM:609056] synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933] xref: DOID:0060470 {source="MONDO:equivalentTo"} xref: GARD:0012059 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:171714", source="Orphanet:370938", source="ORDO:370938/attributed", source="ORDO:370938/ntbt", source="ORDO:171714/attributed", source="ORDO:171714/ntbt", source="ORDO:370933/attributed", source="ORDO:370933/ntbt", source="Orphanet:370933"} -xref: OMIM:609056 {source="Orphanet:171714", source="MONDO:equivalentTo", source="ORDO:370938/ntbt", source="ORDO:171714/ntbt", source="ORDO:370938"} +xref: ICD10CM:E77.8 {source="Orphanet:171714", source="Orphanet:370938/attributed", source="Orphanet:370938/ntbt", source="Orphanet:171714/attributed", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="Orphanet:370933/attributed", source="Orphanet:370933/ntbt", source="Orphanet:370933"} +xref: OMIM:609056 {source="Orphanet:171714", source="Orphanet:370938/ntbt", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="MONDO:equivalentTo"} xref: Orphanet:171714 {source="MONDO:equivalentObsolete", source="OMIM:609056"} xref: Orphanet:370933 {source="MONDO:equivalentTo"} xref: Orphanet:370938 {source="MONDO:equivalentObsolete", source="DOID:0060470"} @@ -351940,12 +351778,12 @@ id: MONDO:0018276 name: muscular dystrophy-dystroglycanopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:370953"} -synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, ORDO:370953, Orphanet:370953] +synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, Orphanet:370953] synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [Orphanet:370953] synonym: "muscular dystrophy-dystroglycanopathy" EXACT CLINGEN_PREFERRED [] xref: DOID:0050588 {source="MONDO:equivalentTo"} xref: GARD:0012584 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="DOID:0050588", source="Orphanet:370953", source="ORDO:370953/attributed", source="ORDO:370953/ntbt"} +xref: ICD10CM:G71.2 {source="DOID:0050588", source="Orphanet:370953/attributed", source="Orphanet:370953/ntbt", source="Orphanet:370953"} xref: OMIM:613150 {source="DOID:0050588", source="MONDO:superClassOf"} xref: OMIM:613151 {source="DOID:0050588", source="MONDO:superClassOf"} xref: OMIM:613152 {source="DOID:0050588", source="MONDO:superClassOf"} @@ -351974,12 +351812,12 @@ name: congenital muscular dystrophy with cerebellar involvement subset: ordo_disease {source="Orphanet:370959"} synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959] synonym: "CMD-CRB" EXACT [Orphanet:370959] -xref: ICD10CM:G71.2 {source="Orphanet:370959", source="ORDO:370959/attributed", source="ORDO:370959/ntbt"} -xref: OMIM:606612 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="ORDO:370959/ntbt"} -xref: OMIM:613151 {source="Orphanet:370959", source="MONDO:superClassOf", source="ORDO:370959/btnt"} -xref: OMIM:613155 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="ORDO:370959/ntbt"} -xref: OMIM:613156 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="ORDO:370959/ntbt"} -xref: OMIM:615351 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="ORDO:370959/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:370959", source="Orphanet:370959/attributed", source="Orphanet:370959/ntbt"} +xref: OMIM:606612 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="Orphanet:370959/ntbt"} +xref: OMIM:613151 {source="Orphanet:370959", source="Orphanet:370959/btnt", source="MONDO:superClassOf"} +xref: OMIM:613155 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="Orphanet:370959/ntbt"} +xref: OMIM:613156 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="Orphanet:370959/ntbt"} +xref: OMIM:615351 {source="MONDO:subClassOf", source="Orphanet:370959", source="MONDO:relatedTo", source="Orphanet:370959/ntbt"} xref: Orphanet:370959 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017745 {source="Orphanet:370959"} ! disorder of O-mannosylglycan synthesis @@ -351995,12 +351833,12 @@ name: congenital muscular dystrophy with intellectual disability subset: ordo_disease {source="Orphanet:370968"} synonym: "CMD with intellectual disability" EXACT [Orphanet:370968] synonym: "CMD-MR" EXACT [Orphanet:370968] -xref: ICD10CM:G71.2 {source="Orphanet:370968", source="ORDO:370968/attributed", source="ORDO:370968/ntbt"} -xref: OMIM:606612 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="ORDO:370968/ntbt"} -xref: OMIM:608840 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="ORDO:370968/ntbt"} -xref: OMIM:613155 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="ORDO:370968/ntbt"} -xref: OMIM:613156 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="ORDO:370968/ntbt"} -xref: OMIM:615351 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="ORDO:370968/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:370968", source="Orphanet:370968/attributed", source="Orphanet:370968/ntbt"} +xref: OMIM:606612 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="Orphanet:370968/ntbt"} +xref: OMIM:608840 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="Orphanet:370968/ntbt"} +xref: OMIM:613155 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="Orphanet:370968/ntbt"} +xref: OMIM:613156 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="Orphanet:370968/ntbt"} +xref: OMIM:615351 {source="MONDO:subClassOf", source="Orphanet:370968", source="MONDO:relatedTo", source="Orphanet:370968/ntbt"} xref: Orphanet:370968 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017745 {source="Orphanet:370968"} ! disorder of O-mannosylglycan synthesis @@ -352017,9 +351855,9 @@ subset: ordo_disease {source="Orphanet:370980"} synonym: "CMD without intellectual disability" EXACT [Orphanet:370980] synonym: "CMD-no MR" EXACT [Orphanet:370980] synonym: "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" EXACT [Orphanet:370980] -xref: ICD10CM:G71.2 {source="ORDO:370980/attributed", source="ORDO:370980/ntbt", source="Orphanet:370980"} -xref: OMIM:606612 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:370980/ntbt", source="Orphanet:370980"} -xref: OMIM:613152 {source="ORDO:370980/btnt", source="Orphanet:370980", source="MONDO:superClassOf"} +xref: ICD10CM:G71.2 {source="Orphanet:370980", source="Orphanet:370980/attributed", source="Orphanet:370980/ntbt"} +xref: OMIM:606612 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:370980", source="Orphanet:370980/ntbt"} +xref: OMIM:613152 {source="Orphanet:370980", source="MONDO:superClassOf", source="Orphanet:370980/btnt"} xref: Orphanet:370980 {source="MONDO:equivalentTo"} is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017745 {source="Orphanet:370980"} ! disorder of O-mannosylglycan synthesis @@ -352035,8 +351873,8 @@ name: muscle-eye-brain disease with bilateral multicystic leucodystrophy def: "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." [Orphanet:370997] subset: ordo_disease {source="Orphanet:370997"} synonym: "MEB disease with bilateral multicystic leucodystrophy" EXACT [Orphanet:370997] -xref: ICD10CM:G71.2 {source="Orphanet:370997", source="ORDO:370997/attributed", source="ORDO:370997/ntbt"} -xref: OMIM:616538 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:370997", source="ORDO:370997/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:370997/attributed", source="Orphanet:370997/ntbt", source="Orphanet:370997"} +xref: OMIM:616538 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:370997/ntbt", source="Orphanet:370997"} xref: Orphanet:370997 {source="MONDO:equivalentTo"} is_a: MONDO:0018276 ! muscular dystrophy-dystroglycanopathy is_a: MONDO:0018283 {source="Orphanet:370997"} ! primary qualitative or quantitative defects of alpha-dystroglycan @@ -352050,7 +351888,7 @@ name: congenital muscular dystrophy with hyperlaxity def: "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." [Orphanet:371007] subset: ordo_disease {source="Orphanet:371007"} synonym: "CMDH" EXACT ABBREVIATION [Orphanet:371007] -xref: ICD10CM:G71.2 {source="ORDO:371007/attributed", source="ORDO:371007/ntbt", source="Orphanet:371007"} +xref: ICD10CM:G71.2 {source="Orphanet:371007/attributed", source="Orphanet:371007/ntbt", source="Orphanet:371007"} xref: Orphanet:371007 {source="MONDO:equivalentTo"} xref: SCTID:763314009 {source="MONDO:equivalentTo"} is_a: MONDO:0019950 {source="Orphanet:371007"} ! congenital muscular dystrophy @@ -352065,7 +351903,7 @@ subset: ordo_group_of_disorders {source="Orphanet:371024"} synonym: "Alpha-dystroglycanopathy" EXACT [Orphanet:371024] synonym: "dystroglycanopathy" EXACT [Orphanet:371024] synonym: "qualitative or quantitative defects of alpha-dystroglycan" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:G71.2 {source="ORDO:371024/attributed", source="ORDO:371024/ntbt", source="Orphanet:371024"} +xref: ICD10CM:G71.2 {source="Orphanet:371024", source="Orphanet:371024/attributed", source="Orphanet:371024/ntbt"} xref: Orphanet:371024 {source="MONDO:equivalentTo"} xref: UMLS:C2936406 {source="Orphanet:371024", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016139 {source="Orphanet:371024"} ! qualitative or quantitative protein defects in neuromuscular diseases @@ -352077,7 +351915,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371040"} synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040] synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040] -xref: ICD10CM:G71.2 {source="Orphanet:371040", source="ORDO:371040/attributed", source="ORDO:371040/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:371040", source="Orphanet:371040/attributed", source="Orphanet:371040/ntbt"} xref: Orphanet:371040 {source="MONDO:equivalentTo"} is_a: MONDO:0018282 {source="Orphanet:371040"} ! qualitative or quantitative defects of alpha-dystroglycan @@ -352087,7 +351925,7 @@ name: obsolete congenital disorder of glycosylation with neurological involvemen comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371047"} synonym: "CDG with neurological involvement" EXACT [Orphanet:371047] -xref: ICD10CM:E77.8 {source="ORDO:371047/attributed", source="ORDO:371047/ntbt", source="Orphanet:371047"} +xref: ICD10CM:E77.8 {source="Orphanet:371047", source="Orphanet:371047/attributed", source="Orphanet:371047/ntbt"} xref: Orphanet:371047 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -352107,7 +351945,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:E77.8 {source="Orphanet:371054", source="ORDO:371054/attributed", source="ORDO:371054/ntbt"} +consider: ICD10CM:E77.8 {source="Orphanet:371054/attributed", source="Orphanet:371054/ntbt", source="Orphanet:371054"} [Term] id: MONDO:0018286 @@ -352121,7 +351959,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:E77.8 {source="Orphanet:371064", source="ORDO:371064/attributed", source="ORDO:371064/ntbt"} +consider: ICD10CM:E77.8 {source="Orphanet:371064", source="Orphanet:371064/attributed", source="Orphanet:371064/ntbt"} [Term] id: MONDO:0018287 @@ -352135,7 +351973,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:E77.8 {source="ORDO:371071/attributed", source="ORDO:371071/ntbt", source="Orphanet:371071"} +consider: ICD10CM:E77.8 {source="Orphanet:371071/attributed", source="Orphanet:371071/ntbt", source="Orphanet:371071"} [Term] id: MONDO:0018288 @@ -352143,7 +351981,7 @@ name: obsolete congenital disorder of glycosylation with hepatic involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371157"} synonym: "CDG with hepatic involvement" EXACT [Orphanet:371157] -xref: ICD10CM:E77.8 {source="ORDO:371157/attributed", source="ORDO:371157/ntbt", source="Orphanet:371157"} +xref: ICD10CM:E77.8 {source="Orphanet:371157", source="Orphanet:371157/attributed", source="Orphanet:371157/ntbt"} xref: Orphanet:371157 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -352157,7 +351995,7 @@ name: obsolete congenital disorder of glycosylation with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371176"} synonym: "CDG with dilated cardiomyopathy" EXACT [Orphanet:371176] -xref: ICD10CM:E77.8 {source="Orphanet:371176", source="ORDO:371176/attributed", source="ORDO:371176/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:371176/attributed", source="Orphanet:371176/ntbt", source="Orphanet:371176"} xref: Orphanet:371176 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -352177,7 +352015,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:E77.8 {source="Orphanet:371183", source="ORDO:371183/attributed", source="ORDO:371183/ntbt"} +consider: ICD10CM:E77.8 {source="Orphanet:371183", source="Orphanet:371183/attributed", source="Orphanet:371183/ntbt"} [Term] id: MONDO:0018291 @@ -352185,7 +352023,7 @@ name: obsolete congenital disorder of glycosylation with intestinal involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371188"} synonym: "CDG with intestinal involvement" EXACT [Orphanet:371188] -xref: ICD10CM:E77.8 {source="ORDO:371188/attributed", source="ORDO:371188/ntbt", source="Orphanet:371188"} +xref: ICD10CM:E77.8 {source="Orphanet:371188", source="Orphanet:371188/attributed", source="Orphanet:371188/ntbt"} xref: Orphanet:371188 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -352199,7 +352037,7 @@ name: congenital disorder of glycosylation-related bone disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371195"} synonym: "CDG-related bone disorder" EXACT [Orphanet:371195] -xref: ICD10CM:E77.8 {source="Orphanet:371195", source="ORDO:371195/attributed", source="ORDO:371195/ntbt"} +xref: ICD10CM:E77.8 {source="Orphanet:371195/attributed", source="Orphanet:371195/ntbt", source="Orphanet:371195"} xref: Orphanet:371195 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="Orphanet:371195"} ! bone disorder is_a: MONDO:0015286 ! congenital disorder of glycosylation @@ -352215,7 +352053,7 @@ name: obsolete congenital disorder of glycosylation with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371200"} synonym: "CDG with skin involvement" EXACT [Orphanet:371200] -xref: ICD10CM:E77.8 {source="ORDO:371200/attributed", source="ORDO:371200/ntbt", source="Orphanet:371200"} +xref: ICD10CM:E77.8 {source="Orphanet:371200", source="Orphanet:371200/attributed", source="Orphanet:371200/ntbt"} xref: Orphanet:371200 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -352235,7 +352073,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:E77.8 {source="ORDO:371207/attributed", source="ORDO:371207/ntbt", source="Orphanet:371207"} +consider: ICD10CM:E77.8 {source="Orphanet:371207/attributed", source="Orphanet:371207/ntbt", source="Orphanet:371207"} [Term] id: MONDO:0018295 @@ -352249,7 +352087,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:E77.8 {source="ORDO:371212/attributed", source="ORDO:371212/ntbt", source="Orphanet:371212"} +consider: ICD10CM:E77.8 {source="Orphanet:371212", source="Orphanet:371212/attributed", source="Orphanet:371212/ntbt"} [Term] id: MONDO:0018296 @@ -352259,7 +352097,7 @@ subset: gard_rare {source="GARD:0012782"} subset: ordo_group_of_disorders {source="Orphanet:371235"} synonym: "CDG with developmental anomaly" EXACT [Orphanet:371235] xref: GARD:0012782 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E77.8 {source="ORDO:371235/attributed", source="ORDO:371235/ntbt", source="Orphanet:371235"} +xref: ICD10CM:E77.8 {source="Orphanet:371235", source="Orphanet:371235/attributed", source="Orphanet:371235/ntbt"} xref: Orphanet:371235 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -352282,9 +352120,9 @@ name: multicentric osteolysis-nodulosis-arthropathy spectrum def: "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." [Orphanet:371428] subset: ordo_disease {source="Orphanet:371428"} synonym: "mona spectrum" EXACT [Orphanet:371428] -xref: ICD10CM:Q85.9 {source="ORDO:371428/attributed", source="ORDO:371428/ntbt", source="Orphanet:371428"} -xref: OMIM:259600 {source="MONDO:superClassOf", source="ORDO:371428/btnt", source="Orphanet:371428"} -xref: OMIM:277950 {source="MONDO:superClassOf", source="ORDO:371428/btnt", source="Orphanet:371428"} +xref: ICD10CM:Q85.9 {source="Orphanet:371428/attributed", source="Orphanet:371428/ntbt", source="Orphanet:371428"} +xref: OMIM:259600 {source="MONDO:superClassOf", source="Orphanet:371428/btnt", source="Orphanet:371428"} +xref: OMIM:277950 {source="MONDO:superClassOf", source="Orphanet:371428/btnt", source="Orphanet:371428"} xref: Orphanet:371428 {source="MONDO:equivalentTo"} xref: SCTID:716868003 {source="MONDO:equivalentTo"} xref: UMLS:CN227313 {source="MONDO:equivalentTo"} @@ -352321,18 +352159,18 @@ synonym: "ulcerative cystitis" EXACT [DOID:13949] xref: DOID:13949 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:1678 {source="MONDO:equivalentTo", source="EFO:1000869"} xref: EFO:1000869 {source="MONDO:equivalentTo"} -xref: ICD10CM:N30.1 {source="DOID:1678", source="ORDO:37202/e", source="Orphanet:37202"} +xref: ICD10CM:N30.1 {source="Orphanet:37202/e", source="DOID:1678", source="Orphanet:37202"} xref: ICD9:595.1 {source="MONDO:equivalentTo", source="DOID:1678", source="i2s", source="EFO:1000869"} xref: MedDRA:10008927 {source="EFO:1000869"} -xref: MedDRA:10011796 {source="ORDO:37202/e", source="Orphanet:37202"} -xref: MESH:D018856 {source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="ORDO:37202/e", source="Orphanet:37202", source="EFO:1000869"} +xref: MedDRA:10011796 {source="Orphanet:37202/e", source="Orphanet:37202"} +xref: MESH:D018856 {source="Orphanet:37202/e", source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="Orphanet:37202", source="EFO:1000869"} xref: NCIT:C27189 {source="MONDO:cjm", source="DOID:13949", source="MONDO:equivalentTo"} xref: Orphanet:37202 {source="MONDO:equivalentTo"} xref: SCTID:111409009 {source="DOID:13949", source="MONDO:equivalentTo"} xref: SCTID:197834003 {source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="MONDO:preferredExternal", source="EFO:1000869"} xref: SCTID:197838000 {source="DOID:1678"} xref: SCTID:44497007 {source="DOID:1678"} -xref: UMLS:C0282488 {source="NCIT:C27189", source="DOID:13949", source="MONDO:equivalentTo", source="ORDO:37202/e", source="Orphanet:37202"} +xref: UMLS:C0282488 {source="NCIT:C27189", source="Orphanet:37202/e", source="DOID:13949", source="MONDO:equivalentTo", source="Orphanet:37202"} xref: UMLS:C0600040 {source="MONDO:equivalentTo", source="DOID:1678", source="Orphanet:37202"} xref: UMLS:C1720830 {source="MONDO:equivalentTo", source="Orphanet:37202"} xref: UMLS:C3160917 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:37202"} @@ -352347,7 +352185,7 @@ id: MONDO:0018302 name: acquired kinky hair syndrome def: "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." [Orphanet:37559] subset: ordo_disease {source="Orphanet:37559"} -xref: ICD10CM:L67.8 {source="Orphanet:37559", source="ORDO:37559/ntbt"} +xref: ICD10CM:L67.8 {source="Orphanet:37559", source="Orphanet:37559/ntbt"} xref: Orphanet:37559 {source="MONDO:equivalentTo"} xref: UMLS:CN204889 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder @@ -352358,7 +352196,7 @@ name: generalized isolated dystonia comment: Editor note: consider merging with generalized dystonia if no complex forms subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:376724"} -xref: ICD10CM:G24.1 {source="ORDO:376724/attributed", source="ORDO:376724/ntbt", source="Orphanet:376724"} +xref: ICD10CM:G24.1 {source="Orphanet:376724", source="Orphanet:376724/attributed", source="Orphanet:376724/ntbt"} xref: Orphanet:376724 {source="MONDO:equivalentTo"} is_a: MONDO:0000476 {source="MONDO:Redundant", source="MONDO:cjm"} ! generalized dystonia is_a: MONDO:0015494 {source="MONDO:Redundant", source="Orphanet:376724"} ! isolated dystonia @@ -352377,13 +352215,13 @@ synonym: "chronic urticaria with macroglobulinemia" EXACT [Orphanet:37748] xref: DOID:4371 {source="EFO:1001165", source="MONDO:equivalentTo"} xref: EFO:1001165 {source="MONDO:equivalentTo"} xref: GARD:0012390 {source="MONDO:equivalentTo"} -xref: ICD10CM:L50.8 {source="Orphanet:37748", source="ORDO:37748/ntbt"} +xref: ICD10CM:L50.8 {source="Orphanet:37748", source="Orphanet:37748/ntbt"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10062908 {source="ORDO:37748/e", source="Orphanet:37748"} -xref: MESH:D019873 {source="ORDO:37748/e", source="EFO:1001165", source="Orphanet:37748", source="MONDO:equivalentTo", source="DOID:4371"} +xref: MedDRA:10062908 {source="Orphanet:37748", source="Orphanet:37748/e"} +xref: MESH:D019873 {source="EFO:1001165", source="Orphanet:37748", source="MONDO:equivalentTo", source="Orphanet:37748/e", source="DOID:4371"} xref: Orphanet:37748 {source="MONDO:equivalentTo"} xref: SCTID:402415001 {source="EFO:1001165", source="MONDO:equivalentTo", source="DOID:4371"} -xref: UMLS:C0524988 {source="ORDO:37748/e", source="Orphanet:37748", source="MONDO:equivalentTo", source="DOID:4371"} +xref: UMLS:C0524988 {source="Orphanet:37748", source="MONDO:equivalentTo", source="Orphanet:37748/e", source="DOID:4371"} is_a: MONDO:0019751 {source="GARD:0012390"} ! autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0002459 {source="DOID:4371"} ! type IV hypersensitivity disease relationship: excluded_subClassOf MONDO:0005492 {source="Orphanet:37748"} ! urticaria @@ -352405,24 +352243,24 @@ synonym: "granulomatous disease, chronic" RELATED [GARD:0006100] synonym: "Quie syndrome" EXACT [DOID:3265] xref: DOID:3265 {source="MONDO:equivalentTo"} xref: GARD:0006100 {source="MONDO:equivalentTo"} -xref: ICD10CM:D71 {source="DOID:3265", source="Orphanet:379", source="ORDO:379/inclusion", source="ORDO:379/ntbt"} -xref: MedDRA:10008906 {source="Orphanet:379", source="ORDO:379/e"} -xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="ORDO:379/e"} +xref: ICD10CM:D71 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/ntbt", source="Orphanet:379/inclusion"} +xref: MedDRA:10008906 {source="Orphanet:379", source="Orphanet:379/e"} +xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e"} xref: NCIT:C26788 {source="DOID:3265", source="MONDO:equivalentTo"} xref: OMIM:138990 {source="DOID:3265", source="MONDO:superClassOf"} -xref: OMIM:233670 {source="Orphanet:379", source="MONDO:superClassOf", source="ORDO:379/btnt"} -xref: OMIM:233690 {source="DOID:3265", source="Orphanet:379", source="MONDO:superClassOf", source="ORDO:379/btnt"} -xref: OMIM:233700 {source="DOID:3265", source="Orphanet:379", source="MONDO:superClassOf", source="ORDO:379/btnt"} -xref: OMIM:233710 {source="DOID:3265", source="Orphanet:379", source="MONDO:superClassOf", source="ORDO:379/btnt"} -xref: OMIM:306400 {source="DOID:3265", source="Orphanet:379", source="MONDO:superClassOf", source="ORDO:379/btnt"} -xref: OMIM:613960 {source="DOID:3265", source="Orphanet:379", source="MONDO:superClassOf", source="ORDO:379/btnt"} +xref: OMIM:233670 {source="Orphanet:379", source="Orphanet:379/btnt", source="MONDO:superClassOf"} +xref: OMIM:233690 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/btnt", source="MONDO:superClassOf"} +xref: OMIM:233700 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/btnt", source="MONDO:superClassOf"} +xref: OMIM:233710 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/btnt", source="MONDO:superClassOf"} +xref: OMIM:306400 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/btnt", source="MONDO:superClassOf"} +xref: OMIM:613960 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/btnt", source="MONDO:superClassOf"} xref: OMIMPS:306400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:379 {source="DOID:3265", source="MONDO:equivalentTo"} xref: SCTID:11210002 {source="DOID:3265"} xref: SCTID:191352003 {source="DOID:3265"} xref: SCTID:191354002 {source="DOID:3265"} xref: SCTID:387759001 {source="DOID:3265", source="MONDO:equivalentTo"} -xref: UMLS:C0018203 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="NCIT:C26788", source="ORDO:379/e"} +xref: UMLS:C0018203 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e", source="NCIT:C26788"} is_a: MONDO:0003778 {source="Orphanet:379", source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of immunity is_a: MONDO:0005910 {source="DOID:3265", source="MESH:D006105"} ! phagocyte bactericidal dysfunction is_a: MONDO:0021166 {source="linkedlifedata"} ! inflammatory disease @@ -352453,11 +352291,11 @@ synonym: "Griscelli-Pruni��ras syndrome" EXACT [DOID:0060831] synonym: "partial albinism-immunodeficiency syndrome" EXACT [DOID:0060831, Orphanet:381] xref: DOID:0060831 {source="MONDO:equivalentTo"} xref: GARD:0010913 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060831", source="ORDO:381/attributed", source="ORDO:381/ntbt", source="Orphanet:381"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060831", source="Orphanet:381", source="Orphanet:381/attributed", source="Orphanet:381/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:214450 {source="MONDO:superClassOf", source="ORDO:381/btnt", source="Orphanet:381"} -xref: OMIM:607624 {source="MONDO:superClassOf", source="ORDO:381/btnt", source="Orphanet:381"} -xref: OMIM:609227 {source="MONDO:superClassOf", source="ORDO:381/btnt", source="Orphanet:381"} +xref: OMIM:214450 {source="MONDO:superClassOf", source="Orphanet:381", source="Orphanet:381/btnt"} +xref: OMIM:607624 {source="MONDO:superClassOf", source="Orphanet:381", source="Orphanet:381/btnt"} +xref: OMIM:609227 {source="MONDO:superClassOf", source="Orphanet:381", source="Orphanet:381/btnt"} xref: OMIMPS:214450 {source="DOID:0060831", source="MONDO:equivalentTo"} xref: Orphanet:381 {source="DOID:0060831", source="MONDO:equivalentTo"} xref: SCTID:37548006 {source="MONDO:equivalentTo"} @@ -352477,11 +352315,11 @@ synonym: "NBIA" EXACT ABBREVIATION [DOID:0110734, Orphanet:385] synonym: "neurodegeneration with brain iron accumulation" EXACT CLINGEN_PREFERRED [] xref: DOID:0110734 {source="MONDO:equivalentTo"} xref: GARD:0011899 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G23.0 {source="DOID:0110734", source="ORDO:385/attributed", source="ORDO:385/ntbt", source="Orphanet:385"} -xref: MESH:C538421 {source="DOID:0110734", source="MONDO:equivalentTo", source="ORDO:385/e", source="Orphanet:385"} +xref: ICD10CM:G23.0 {source="DOID:0110734", source="Orphanet:385/attributed", source="Orphanet:385/ntbt", source="Orphanet:385"} +xref: MESH:C538421 {source="DOID:0110734", source="Orphanet:385/e", source="MONDO:equivalentTo", source="Orphanet:385"} xref: OMIMPS:234200 {source="DOID:0110734", source="MONDO:equivalentTo"} xref: Orphanet:385 {source="DOID:0110734", source="MONDO:equivalentTo"} -xref: UMLS:C2931845 {source="DOID:0110734", source="MONDO:notFoundInDiseaseSubset", source="ORDO:385/e", source="Orphanet:385"} +xref: UMLS:C2931845 {source="DOID:0110734", source="Orphanet:385/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:385"} is_a: MONDO:0002279 {source="MESH:C538421"} ! iron metabolism disease is_a: MONDO:0002283 {source="MESH:C538421"} ! neuroaxonal dystrophy is_a: MONDO:0005395 ! movement disorder @@ -352511,7 +352349,7 @@ synonym: "MHL" EXACT ABBREVIATION [Orphanet:386] synonym: "VMC" EXACT ABBREVIATION [Orphanet:386] synonym: "Von Meyenburg complexes disease" EXACT [Orphanet:386] xref: GARD:0002651 {source="MONDO:equivalentTo"} -xref: ICD10CM:D13.4 {source="ORDO:386/btnt", source="Orphanet:386"} +xref: ICD10CM:D13.4 {source="Orphanet:386/btnt", source="Orphanet:386"} xref: NCIT:C5751 {source="MONDO:equivalentTo"} xref: Orphanet:386 {source="MONDO:equivalentTo"} xref: SCTID:715397000 {source="MONDO:equivalentTo"} @@ -352540,24 +352378,24 @@ synonym: "pelvirectal achalasia" EXACT [DOID:10487] synonym: "total intestinal aganglionosis" NARROW EXCLUDE [DOID:10487] xref: DOID:10487 {source="MONDO:equivalentTo"} xref: GARD:0006660 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q43.1 {source="ORDO:388/specific", source="ORDO:388/e", source="DOID:10487", source="Orphanet:388"} -xref: MedDRA:10010539 {source="ORDO:388/e", source="Orphanet:388"} -xref: MESH:D006627 {source="MONDO:equivalentTo", source="ORDO:388/e", source="DOID:10487", source="Orphanet:388"} +xref: ICD10CM:Q43.1 {source="Orphanet:388/specific", source="Orphanet:388/e", source="DOID:10487", source="Orphanet:388"} +xref: MedDRA:10010539 {source="Orphanet:388/e", source="Orphanet:388"} +xref: MESH:D006627 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="DOID:10487", source="Orphanet:388"} xref: NCIT:C34700 {source="MONDO:equivalentTo", source="DOID:10487"} -xref: OMIM:142623 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:600155 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:600156 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:606874 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:606875 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:608462 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:611644 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:613711 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} -xref: OMIM:613712 {source="MONDO:superClassOf", source="DOID:10487", source="ORDO:388/btnt", source="Orphanet:388"} +xref: OMIM:142623 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:600155 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:600156 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:606874 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:606875 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:608462 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:611644 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:613711 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} +xref: OMIM:613712 {source="MONDO:superClassOf", source="Orphanet:388/btnt", source="DOID:10487", source="Orphanet:388"} xref: OMIMPS:142623 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="MONDO:equivalentTo", source="DOID:10487"} xref: SCTID:204739008 {source="MONDO:equivalentTo"} xref: SCTID:6687001 {source="DOID:10487"} -xref: UMLS:C0019569 {source="MONDO:equivalentTo", source="NCIT:C34700", source="ORDO:388/e", source="DOID:10487", source="Orphanet:388"} +xref: UMLS:C0019569 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="NCIT:C34700", source="DOID:10487", source="Orphanet:388"} xref: UMLS:C3661523 {source="MONDO:equivalentTo", source="Orphanet:388"} is_a: MONDO:0021189 {source="Orphanet:388"} ! intestinal motility disease is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy @@ -352607,9 +352445,9 @@ synonym: "letterer-Siwe disease of spleen" EXACT [DOID:2571] xref: DOID:2571 {source="MONDO:equivalentTo"} xref: EFO:1000318 {source="MONDO:equivalentTo"} xref: GARD:0006858 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:C96.0 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"} -xref: ICD10CM:C96.5 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"} -xref: ICD10CM:C96.6 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/btnt"} +xref: ICD10CM:C96.0 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} +xref: ICD10CM:C96.5 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} +xref: ICD10CM:C96.6 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} xref: ICD9:202.5 {source="DOID:2571"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9751/1 {source="NCIT:C3107"} @@ -352617,14 +352455,14 @@ xref: ICDO:9751/3 {source="NCIT:C3107"} xref: ICDO:9752/1 {source="NCIT:C3107"} xref: ICDO:9753/1 {source="NCIT:C3107"} xref: ICDO:9754/3 {source="NCIT:C3107"} -xref: MedDRA:10069698 {source="Orphanet:389", source="ORDO:389/e"} +xref: MedDRA:10069698 {source="Orphanet:389", source="Orphanet:389/e"} xref: MESH:C538636 {source="DOID:2571"} -xref: MESH:D006646 {source="DOID:2571", source="Orphanet:389", source="ORDO:389/e"} +xref: MESH:D006646 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/e"} xref: NCIT:C3107 {source="DOID:2571", source="MONDO:equivalentTo", source="EFO:1000318"} xref: NCIT:C3160 {source="DOID:2571", source="MONDO:superClassOf"} xref: NCIT:C6920 {source="DOID:2571", source="MONDO:superClassOf"} xref: OMIM:246400 {source="DOID:2571", source="MONDO:superClassOf"} -xref: OMIM:604856 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="ORDO:389/e"} +xref: OMIM:604856 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="Orphanet:389/e"} xref: ONCOTREE:LCH {source="MONDO:equivalentTo"} xref: Orphanet:389 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:604856"} xref: SCTID:110450007 {source="DOID:2571"} @@ -352648,7 +352486,7 @@ xref: SCTID:366059005 {source="DOID:2571"} xref: SCTID:39795003 {source="DOID:2571", source="MONDO:superClassOf"} xref: SCTID:65399007 {source="DOID:2571", source="MONDO:equivalentTo"} xref: SCTID:67574008 {source="DOID:2571"} -xref: UMLS:C0019621 {source="DOID:2571", source="Orphanet:389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604856", source="NCIT:C3107", source="ORDO:389/e"} +xref: UMLS:C0019621 {source="DOID:2571", source="Orphanet:389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:604856", source="Orphanet:389/e", source="NCIT:C3107"} xref: UMLS:C0023381 {source="DOID:2571", source="MONDO:superClassOf"} xref: UMLS:C0432547 {source="MONDO:equivalentTo"} xref: UMLS:C0432548 {source="MONDO:equivalentTo"} @@ -352673,11 +352511,11 @@ subset: gard_rare {source="GARD:0004500"} subset: ordo_disease {source="Orphanet:39"} synonym: "progressive acromelanosis" RELATED [GARD:0004500] xref: GARD:0004500 {source="MONDO:equivalentTo"} -xref: ICD10CM:L81.4 {source="ORDO:39/ntbt", source="Orphanet:39"} +xref: ICD10CM:L81.4 {source="Orphanet:39", source="Orphanet:39/ntbt"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:39 {source="MONDO:equivalentTo"} xref: SCTID:239089006 {source="MONDO:equivalentTo"} -xref: UMLS:C0406779 {source="ORDO:39/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:39"} +xref: UMLS:C0406779 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:39", source="Orphanet:39/e"} is_a: MONDO:0019289 {source="Orphanet:39", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4500/acromelanosis xsd:anyURI {source="GARD:0004500"} @@ -352693,21 +352531,21 @@ synonym: "Histoplasma infectious disease" EXACT [] xref: DOID:1731 {source="MONDO:equivalentTo", source="EFO:0007310"} xref: EFO:0007310 {source="MONDO:equivalentTo"} xref: ICD10CM:B39 {source="DOID:1731", source="MONDO:equivalentTo"} -xref: ICD10CM:B39.0 {source="Orphanet:390", source="ORDO:390/btnt"} -xref: ICD10CM:B39.1 {source="Orphanet:390", source="ORDO:390/btnt"} -xref: ICD10CM:B39.2 {source="Orphanet:390", source="ORDO:390/btnt"} -xref: ICD10CM:B39.3 {source="Orphanet:390", source="ORDO:390/btnt"} -xref: ICD10CM:B39.4 {source="Orphanet:390", source="ORDO:390/btnt"} -xref: ICD10CM:B39.5 {source="Orphanet:390", source="ORDO:390/btnt"} -xref: ICD10CM:B39.9 {source="DOID:1731", source="Orphanet:390", source="ORDO:390/btnt"} +xref: ICD10CM:B39.0 {source="Orphanet:390", source="Orphanet:390/btnt"} +xref: ICD10CM:B39.1 {source="Orphanet:390", source="Orphanet:390/btnt"} +xref: ICD10CM:B39.2 {source="Orphanet:390", source="Orphanet:390/btnt"} +xref: ICD10CM:B39.3 {source="Orphanet:390", source="Orphanet:390/btnt"} +xref: ICD10CM:B39.4 {source="Orphanet:390", source="Orphanet:390/btnt"} +xref: ICD10CM:B39.5 {source="Orphanet:390", source="Orphanet:390/btnt"} +xref: ICD10CM:B39.9 {source="DOID:1731", source="Orphanet:390", source="Orphanet:390/btnt"} xref: ICD9:115 {source="DOID:1731"} xref: ICD9:115.9 {source="DOID:1731"} xref: ICD9:115.90 {source="MONDO:equivalentTo", source="i2s"} xref: ICD9:115.99 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10020141 {source="ORDO:390/e", source="Orphanet:390"} -xref: MedDRA:10021808 {source="ORDO:390/e", source="Orphanet:390"} +xref: MedDRA:10020141 {source="Orphanet:390", source="Orphanet:390/e"} +xref: MedDRA:10021808 {source="Orphanet:390", source="Orphanet:390/e"} xref: MESH:C538362 {source="MONDO:relatedTo", source="DOID:1731"} -xref: MESH:D006660 {source="ORDO:390/e", source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="EFO:0007310"} +xref: MESH:D006660 {source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="Orphanet:390/e", source="EFO:0007310"} xref: NCIT:C34977 {source="DOID:1731"} xref: NCIT:C77201 {source="DOID:1731", source="MONDO:equivalentTo"} xref: Orphanet:390 {source="MONDO:equivalentTo"} @@ -352718,9 +352556,9 @@ xref: SCTID:187056001 {source="DOID:1731"} xref: SCTID:187063001 {source="DOID:1731"} xref: SCTID:187482000 {source="DOID:1731"} xref: SCTID:266218008 {source="DOID:1731"} -xref: UMLS:C0019655 {source="ORDO:390/e", source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="NCIT:C77201"} +xref: UMLS:C0019655 {source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="NCIT:C77201", source="Orphanet:390/e"} xref: UMLS:C0035288 {source="MONDO:relatedTo", source="DOID:1731"} -xref: UMLS:C0153261 {source="ORDO:390/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:390"} +xref: UMLS:C0153261 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:390", source="Orphanet:390/e"} is_a: MONDO:0000308 {source="DOID:1731"} ! primary systemic mycosis is_a: MONDO:0002041 {source="DOID:1731/inferred", source="ICD10CM:B39", source="MESH:D006660", source="MONDO:Redundant", source="NCIT:C77201", source="Orphanet:390", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -352738,7 +352576,7 @@ id: MONDO:0018314 name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression def: "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." [Orphanet:391316] subset: ordo_disease {source="Orphanet:391316"} -xref: ICD10CM:G40.2 {source="ORDO:391316/attributed", source="ORDO:391316/ntbt", source="Orphanet:391316"} +xref: ICD10CM:G40.2 {source="Orphanet:391316/attributed", source="Orphanet:391316/ntbt", source="Orphanet:391316"} xref: Orphanet:391316 {source="MONDO:equivalentTo"} xref: UMLS:CN204956 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 {source="Orphanet:391316"} ! monogenic epilepsy @@ -352749,7 +352587,7 @@ relationship: has_modifier HP:0003593 {source="Orphanet:391316"} ! Infantile ons id: MONDO:0018315 name: X-linked osteoporosis with fractures subset: ordo_disease {source="Orphanet:391330"} -xref: OMIM:300910 {source="ORDO:391330/nd", source="MONDO:relatedTo", source="Orphanet:391330"} +xref: OMIM:300910 {source="MONDO:relatedTo", source="Orphanet:391330", source="Orphanet:391330/nd"} xref: Orphanet:391330 {source="MONDO:equivalentTo"} is_a: MONDO:0005298 {source="https://orcid.org/0000-0001-5208-3432"} ! osteoporosis relationship: disease_has_feature HP:0004349 {source="Orphanet:391330"} ! Reduced bone mineral density @@ -352759,7 +352597,7 @@ relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:391330"} ! obs id: MONDO:0018316 name: fatal post-viral neurodegenerative disorder subset: ordo_disease {source="Orphanet:391343"} -xref: ICD10CM:G04.8 {source="ORDO:391343/attributed", source="ORDO:391343/ntbt", source="Orphanet:391343"} +xref: ICD10CM:G04.8 {source="Orphanet:391343", source="Orphanet:391343/attributed", source="Orphanet:391343/ntbt"} xref: Orphanet:391343 {source="MONDO:equivalentTo"} xref: UMLS:CN204961 {source="MONDO:equivalentTo"} is_a: MONDO:0015144 {source="Orphanet:391343"} ! brain inflammatory disease @@ -352791,10 +352629,10 @@ subset: ordo_disease {source="Orphanet:391384"} synonym: "FEPS" EXACT ABBREVIATION [Orphanet:391384] xref: DOID:0111728 {source="MONDO:equivalentTo"} xref: GARD:0012684 {source="MONDO:equivalentTo"} -xref: ICD10CM:M79.6 {source="ORDO:391384/attributed", source="ORDO:391384/ntbt", source="Orphanet:391384"} -xref: OMIM:615040 {source="MONDO:superClassOf", source="ORDO:391384/btnt", source="Orphanet:391384"} +xref: ICD10CM:M79.6 {source="Orphanet:391384", source="Orphanet:391384/attributed", source="Orphanet:391384/ntbt"} +xref: OMIM:615040 {source="MONDO:superClassOf", source="Orphanet:391384", source="Orphanet:391384/btnt"} xref: OMIM:615551 {source="GARD:0012684", source="MONDO:superClassOf"} -xref: OMIM:615552 {source="MONDO:superClassOf", source="ORDO:391384/btnt", source="Orphanet:391384"} +xref: OMIM:615552 {source="MONDO:superClassOf", source="Orphanet:391384", source="Orphanet:391384/btnt"} xref: OMIMPS:615040 {source="MONDO:equivalentTo"} xref: Orphanet:391384 {source="MONDO:equivalentTo"} xref: UMLS:CN204967 {source="MONDO:equivalentTo"} @@ -352807,9 +352645,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12684/familia id: MONDO:0018320 name: primary microcephaly-mild intellectual disability-young-onset diabetes syndrome subset: ordo_disease {source="Orphanet:391408"} -xref: ICD10CM:Q87.8 {source="Orphanet:391408", source="ORDO:391408/attributed", source="ORDO:391408/ntbt"} -xref: OMIM:616033 {source="Orphanet:391408", source="MONDO:superClassOf", source="ORDO:391408/btnt"} -xref: OMIM:616817 {source="Orphanet:391408", source="MONDO:superClassOf", source="ORDO:391408/btnt"} +xref: ICD10CM:Q87.8 {source="Orphanet:391408", source="Orphanet:391408/attributed", source="Orphanet:391408/ntbt"} +xref: OMIM:616033 {source="Orphanet:391408", source="Orphanet:391408/btnt", source="MONDO:superClassOf"} +xref: OMIM:616817 {source="Orphanet:391408", source="Orphanet:391408/btnt", source="MONDO:superClassOf"} xref: Orphanet:391408 {source="MONDO:equivalentTo"} xref: UMLS:CN204971 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:391408"} ! syndromic intellectual disability @@ -352822,9 +352660,9 @@ id: MONDO:0018321 name: atypical juvenile parkinsonism def: "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." [Orphanet:391411] subset: ordo_disease {source="Orphanet:391411"} -xref: ICD10CM:G20 {source="ORDO:391411/attributed", source="ORDO:391411/ntbt", source="Orphanet:391411"} -xref: OMIM:615528 {source="ORDO:391411/btnt", source="MONDO:superClassOf", source="Orphanet:391411"} -xref: OMIM:615530 {source="ORDO:391411/btnt", source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:391411"} +xref: ICD10CM:G20 {source="Orphanet:391411", source="Orphanet:391411/attributed", source="Orphanet:391411/ntbt"} +xref: OMIM:615528 {source="MONDO:superClassOf", source="Orphanet:391411", source="Orphanet:391411/btnt"} +xref: OMIM:615530 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:391411", source="Orphanet:391411/btnt"} xref: Orphanet:391411 {source="MONDO:equivalentTo"} xref: SCTID:725146001 {source="MONDO:equivalentTo"} xref: UMLS:C4510873 {source="MONDO:equivalentTo"} @@ -352845,7 +352683,7 @@ synonym: "HSD10 deficiency, infantile type" EXACT [Orphanet:391428] synonym: "HSD10 disease, classic type" EXACT [Orphanet:391428] synonym: "MHBD deficiency, classic type" EXACT [Orphanet:391428] synonym: "MHBD deficiency, infantile type" EXACT [Orphanet:391428] -xref: ICD10CM:E72.8 {source="Orphanet:391428", source="ORDO:391428/attributed", source="ORDO:391428/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:391428", source="Orphanet:391428/attributed", source="Orphanet:391428/ntbt"} xref: OMIM:300438 {source="MONDO:subClassOf", source="Orphanet:391428"} xref: Orphanet:391428 {source="MONDO:equivalentTo"} xref: UMLS:CN204974 {source="MONDO:equivalentTo"} @@ -352861,7 +352699,7 @@ synonym: "2-methyl-3-hydroxybutyric aciduria, neonatal type" EXACT [Orphanet:391 synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type" EXACT [Orphanet:391457] synonym: "HSD10 deficiency, neonatal type" EXACT [Orphanet:391457] synonym: "MHBD deficiency, neonatal type" EXACT [Orphanet:391457] -xref: ICD10CM:E72.8 {source="Orphanet:391457", source="ORDO:391457/attributed", source="ORDO:391457/ntbt"} +xref: ICD10CM:E72.8 {source="Orphanet:391457/attributed", source="Orphanet:391457/ntbt", source="Orphanet:391457"} xref: OMIM:300438 {source="MONDO:subClassOf", source="Orphanet:391457"} xref: Orphanet:391457 {source="MONDO:equivalentTo"} xref: UMLS:CN204975 {source="MONDO:equivalentTo"} @@ -352875,7 +352713,7 @@ def: "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromusc subset: ordo_clinical_subtype {source="Orphanet:391490"} synonym: "adult-onset acquired myasthenia" EXACT [Orphanet:391490] synonym: "adult-onset autoimmune myasthenia gravis" EXACT [Orphanet:391490] -xref: ICD10CM:G70.0 {source="MONDO:subClassOf", source="Orphanet:391490", source="ORDO:391490/ntbt"} +xref: ICD10CM:G70.0 {source="MONDO:subClassOf", source="Orphanet:391490/ntbt", source="Orphanet:391490"} xref: Orphanet:391490 {source="MONDO:equivalentTo"} is_a: MONDO:0009688 {source="Orphanet:391490"} ! myasthenia gravis intersection_of: MONDO:0009688 ! myasthenia gravis @@ -352891,7 +352729,7 @@ synonym: "juvenile acquired myasthenia" EXACT [Orphanet:391497] synonym: "juvenile autoimmune myasthenia gravis" EXACT [Orphanet:391497] synonym: "myasthenia gravis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric myasthenia gravis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -xref: ICD10CM:G70.0 {source="MONDO:subClassOf", source="ORDO:391497/ntbt", source="Orphanet:391497"} +xref: ICD10CM:G70.0 {source="MONDO:subClassOf", source="Orphanet:391497", source="Orphanet:391497/ntbt"} xref: Orphanet:391497 {source="MONDO:equivalentTo"} is_a: MONDO:0009688 {source="MONDO:Redundant", source="Orphanet:391497"} ! myasthenia gravis intersection_of: MONDO:0009688 ! myasthenia gravis @@ -352906,7 +352744,7 @@ synonym: "neonatal myasthenia gravis" EXACT [Orphanet:391504] synonym: "NMG" EXACT ABBREVIATION [Orphanet:391504] synonym: "transient neonatal acquired myasthenia" EXACT [Orphanet:391504] synonym: "transient neonatal autoimmune myasthenia gravis" EXACT [Orphanet:391504] -xref: ICD10CM:P94.0 {source="Orphanet:391504", source="MONDO:equivalentTo", source="ORDO:391504/e"} +xref: ICD10CM:P94.0 {source="Orphanet:391504", source="MONDO:equivalentTo", source="Orphanet:391504/e"} xref: NCIT:C117308 {source="MONDO:equivalentTo"} xref: Orphanet:391504 {source="MONDO:equivalentTo"} xref: UMLS:C0158982 {source="Orphanet:391504", source="MONDO:notFoundInDiseaseSubset"} @@ -352924,7 +352762,7 @@ synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060] synonym: "glomus tumor" EXACT [NCIT:C3060] synonym: "glomus tumour" EXACT [DOID:2431] xref: DOID:2431 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="ORDO:391651/ntbt", source="Orphanet:391651"} +xref: ICD10CM:D18.0 {source="Orphanet:391651", source="Orphanet:391651/ntbt"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8711/0 {source="NCIT:C3060"} xref: MESH:D005918 {source="DOID:2431", source="MONDO:equivalentTo"} @@ -352946,10 +352784,10 @@ name: homozygous familial hypercholesterolemia subset: ordo_disease {source="Orphanet:391665"} synonym: "HoFH" EXACT [Orphanet:391665] synonym: "homozygous familial hypercholesterolemia" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:E78.0 {source="ORDO:391665/attributed", source="ORDO:391665/ntbt", source="Orphanet:391665"} -xref: OMIM:143890 {source="MONDO:subClassOf", source="ORDO:391665/ntbt", source="Orphanet:391665"} -xref: OMIM:602247 {source="ORDO:391665/btnt", source="MONDO:superClassOf", source="Orphanet:391665"} -xref: OMIM:603813 {source="ORDO:391665/btnt", source="MONDO:superClassOf", source="Orphanet:391665"} +xref: ICD10CM:E78.0 {source="Orphanet:391665/attributed", source="Orphanet:391665/ntbt", source="Orphanet:391665"} +xref: OMIM:143890 {source="MONDO:subClassOf", source="Orphanet:391665/ntbt", source="Orphanet:391665"} +xref: OMIM:602247 {source="MONDO:superClassOf", source="Orphanet:391665/btnt", source="Orphanet:391665"} +xref: OMIM:603813 {source="MONDO:superClassOf", source="Orphanet:391665/btnt", source="Orphanet:391665"} xref: Orphanet:391665 {source="MONDO:equivalentTo"} xref: SCTID:238078005 {source="MONDO:equivalentTo"} xref: UMLS:C0342881 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:391665"} @@ -352962,7 +352800,7 @@ id: MONDO:0018329 name: persistent combined dystonia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:391711"} -xref: ICD10CM:G24.1 {source="ORDO:391711/attributed", source="ORDO:391711/ntbt", source="Orphanet:391711"} +xref: ICD10CM:G24.1 {source="Orphanet:391711/attributed", source="Orphanet:391711/ntbt", source="Orphanet:391711"} xref: Orphanet:391711 {source="MONDO:equivalentTo"} is_a: MONDO:0020065 {source="Orphanet:391711"} ! combined dystonia @@ -352974,7 +352812,7 @@ subset: ordo_disease {source="Orphanet:391723"} synonym: "appendiceal mucinous adenocarcinoma" EXACT [Orphanet:391723] synonym: "appendix mucinous adenocarcinoma" EXACT [NCIT:C43558] synonym: "vermiform appendix mucinous adenocarcinoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C18.1 {source="ORDO:391723/ntbt", source="Orphanet:391723"} +xref: ICD10CM:C18.1 {source="Orphanet:391723/ntbt", source="Orphanet:391723"} xref: NCIT:C43558 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:MAAP {source="MONDO:equivalentTo"} xref: Orphanet:391723 {source="MONDO:equivalentTo"} @@ -352998,7 +352836,7 @@ subset: ordo_clinical_subtype {source="Orphanet:394529"} synonym: "glutaric aciduria type 2, severe neonatal type" EXACT [Orphanet:394529] synonym: "MAD deficiency, severe neonatal type" EXACT [Orphanet:394529] synonym: "MADD, severe neonatal type" EXACT [Orphanet:394529] -xref: ICD10CM:E71.3 {source="Orphanet:394529", source="ORDO:394529/attributed", source="ORDO:394529/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:394529", source="Orphanet:394529/attributed", source="Orphanet:394529/ntbt"} xref: Orphanet:394529 {source="MONDO:equivalentTo"} xref: UMLS:CN205004 {source="MONDO:equivalentTo"} is_a: MONDO:0009282 {source="Orphanet:394529"} ! multiple acyl-CoA dehydrogenase deficiency @@ -353010,7 +352848,7 @@ subset: ordo_clinical_subtype {source="Orphanet:394532"} synonym: "glutaric aciduria type 2, mild type" EXACT [Orphanet:394532] synonym: "MAD deficiency, mild type" EXACT [Orphanet:394532] synonym: "MADD, mild type" EXACT [Orphanet:394532] -xref: ICD10CM:E71.3 {source="ORDO:394532/attributed", source="ORDO:394532/ntbt", source="Orphanet:394532"} +xref: ICD10CM:E71.3 {source="Orphanet:394532", source="Orphanet:394532/attributed", source="Orphanet:394532/ntbt"} xref: Orphanet:394532 {source="MONDO:equivalentTo"} xref: UMLS:CN205005 {source="MONDO:equivalentTo"} is_a: MONDO:0009282 {source="Orphanet:394532"} ! multiple acyl-CoA dehydrogenase deficiency @@ -353051,7 +352889,7 @@ id: MONDO:0018336 name: obsolete Silver-Russell syndrome due to a point mutation comment: We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome. subset: ordo_etiological_subtype {source="Orphanet:397590"} -xref: ICD10CM:Q87.1 {source="Orphanet:397590", source="ORDO:397590/attributed", source="ORDO:397590/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:397590/attributed", source="Orphanet:397590/ntbt", source="Orphanet:397590"} xref: Orphanet:397590 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN225933 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1842 xsd:anyURI @@ -353062,8 +352900,8 @@ consider: MONDO:0008394 id: MONDO:0018337 name: severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency subset: ordo_disease {source="Orphanet:397593"} -xref: ICD10CM:E88.8 {source="Orphanet:397593", source="ORDO:397593/attributed", source="ORDO:397593/ntbt"} -xref: OMIM:615595 {source="Orphanet:397593", source="MONDO:superClassOf", source="ORDO:397593/btnt"} +xref: ICD10CM:E88.8 {source="Orphanet:397593", source="Orphanet:397593/attributed", source="Orphanet:397593/ntbt"} +xref: OMIM:615595 {source="Orphanet:397593", source="Orphanet:397593/btnt", source="MONDO:superClassOf"} xref: Orphanet:397593 {source="MONDO:equivalentTo"} is_a: MONDO:0044970 {source="Orphanet:397593"} ! mitochondrial disease @@ -353074,10 +352912,10 @@ subset: ordo_disease {source="Orphanet:397596"} synonym: "APDS" EXACT ABBREVIATION [Orphanet:397596] synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [Orphanet:397596] xref: GARD:0011983 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.8 {source="Orphanet:397596", source="ORDO:397596/attributed", source="ORDO:397596/ntbt"} +xref: ICD10CM:D81.8 {source="Orphanet:397596", source="Orphanet:397596/attributed", source="Orphanet:397596/ntbt"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:615513 {source="Orphanet:397596", source="MONDO:superClassOf", source="ORDO:397596/btnt"} -xref: OMIM:616005 {source="Orphanet:397596", source="MONDO:superClassOf", source="ORDO:397596/btnt"} +xref: OMIM:615513 {source="Orphanet:397596", source="Orphanet:397596/btnt", source="MONDO:superClassOf"} +xref: OMIM:616005 {source="Orphanet:397596", source="Orphanet:397596/btnt", source="MONDO:superClassOf"} xref: Orphanet:397596 {source="MONDO:equivalentTo"} xref: SCTID:711480000 {source="MONDO:equivalentTo"} xref: UMLS:C3714976 {source="Orphanet:397596", source="MONDO:equivalentTo"} @@ -353091,7 +352929,7 @@ subset: ordo_disease {source="Orphanet:397606"} synonym: "chronic diarrhea with hereditary sensory and autonomic neuropathy" EXACT [Orphanet:397606] synonym: "chronic diarrhea with HSAN" EXACT [Orphanet:397606] synonym: "prion protein systemic amyloidosis" EXACT [Orphanet:397606] -xref: ICD10CM:G60.8 {source="Orphanet:397606", source="ORDO:397606/attributed", source="ORDO:397606/ntbt"} +xref: ICD10CM:G60.8 {source="Orphanet:397606/attributed", source="Orphanet:397606/ntbt", source="Orphanet:397606"} xref: Orphanet:397606 {source="MONDO:equivalentTo"} xref: SCTID:733422008 {source="MONDO:equivalentTo"} xref: UMLS:C4518776 {source="MONDO:equivalentTo"} @@ -353104,8 +352942,8 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare id: MONDO:0018340 name: hereditary isolated aplastic anemia subset: ordo_disease {source="Orphanet:397692"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:397692", source="ORDO:397692/inclusion", source="ORDO:397692/ntbt"} -xref: OMIM:616553 {source="Orphanet:397692", source="MONDO:superClassOf", source="ORDO:397692/btnt"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:397692", source="Orphanet:397692/ntbt", source="Orphanet:397692/inclusion"} +xref: OMIM:616553 {source="Orphanet:397692", source="Orphanet:397692/btnt", source="MONDO:superClassOf"} xref: Orphanet:397692 {source="MONDO:equivalentTo"} is_a: MONDO:0001713 {source="Orphanet:397692"} ! inherited aplastic anemia @@ -353115,7 +352953,7 @@ name: 3q27.3 microdeletion syndrome def: "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." [Orphanet:397695] subset: ordo_disease {source="Orphanet:397695"} synonym: "Del(3)(q27.3)" EXACT [Orphanet:397695] -xref: ICD10CM:Q93.5 {source="Orphanet:397695", source="ORDO:397695/attributed", source="ORDO:397695/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:397695", source="Orphanet:397695/attributed", source="Orphanet:397695/ntbt"} xref: Orphanet:397695 {source="MONDO:equivalentTo"} xref: UMLS:CN225942 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397695", source="indirect"} ! syndromic intellectual disability @@ -353133,9 +352971,9 @@ def: "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an e subset: ordo_malformation_syndrome {source="Orphanet:397715"} synonym: "JBTS with JATD" EXACT [Orphanet:397715] synonym: "Joubert syndrome with JATD" EXACT [Orphanet:397715] -xref: ICD10CM:Q04.3 {source="ORDO:397715/attributed", source="ORDO:397715/ntbt", source="Orphanet:397715"} -xref: OMIM:615636 {source="ORDO:397715/btnt", source="MONDO:superClassOf", source="Orphanet:397715"} -xref: OMIM:616546 {source="ORDO:397715/btnt", source="MONDO:superClassOf", source="Orphanet:397715"} +xref: ICD10CM:Q04.3 {source="Orphanet:397715/attributed", source="Orphanet:397715/ntbt", source="Orphanet:397715"} +xref: OMIM:615636 {source="MONDO:superClassOf", source="Orphanet:397715/btnt", source="Orphanet:397715"} +xref: OMIM:616546 {source="MONDO:superClassOf", source="Orphanet:397715/btnt", source="Orphanet:397715"} xref: Orphanet:397715 {source="MONDO:equivalentTo"} xref: SCTID:733418003 {source="MONDO:equivalentTo"} xref: UMLS:C4518774 {source="MONDO:equivalentTo"} @@ -353147,7 +352985,7 @@ is_a: MONDO:0015461 {source="Orphanet:397715"} ! short rib-polydactyly syndrome id: MONDO:0018343 name: periodic paralysis with later-onset distal motor neuropathy subset: ordo_disease {source="Orphanet:397750"} -xref: ICD10CM:G72.3 {source="Orphanet:397750", source="ORDO:397750/attributed", source="ORDO:397750/ntbt"} +xref: ICD10CM:G72.3 {source="Orphanet:397750", source="Orphanet:397750/attributed", source="Orphanet:397750/ntbt"} xref: Orphanet:397750 {source="MONDO:equivalentTo"} is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:397750"} ! periodic paralysis is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -353158,7 +352996,7 @@ relationship: has_modifier SO:1000008 ! point_mutation id: MONDO:0018344 name: periodic paralysis with transient compartment-like syndrome subset: ordo_disease {source="Orphanet:397755"} -xref: ICD10CM:G72.3 {source="ORDO:397755/attributed", source="ORDO:397755/ntbt", source="Orphanet:397755"} +xref: ICD10CM:G72.3 {source="Orphanet:397755", source="Orphanet:397755/attributed", source="Orphanet:397755/ntbt"} xref: Orphanet:397755 {source="MONDO:equivalentTo"} xref: UMLS:CN226077 {source="MONDO:equivalentTo"} is_a: MONDO:0016122 {source="Orphanet:397755"} ! periodic paralysis @@ -353176,7 +353014,7 @@ id: MONDO:0018346 name: ferro-cerebro-cutaneous syndrome subset: ordo_disease {source="Orphanet:397922"} synonym: "cerebro-cutaneous syndrome with iron overload" EXACT [Orphanet:397922] -xref: ICD10CM:G23.0 {source="ORDO:397922/attributed", source="ORDO:397922/ntbt", source="Orphanet:397922"} +xref: ICD10CM:G23.0 {source="Orphanet:397922/attributed", source="Orphanet:397922/ntbt", source="Orphanet:397922"} xref: Orphanet:397922 {source="MONDO:equivalentTo"} xref: UMLS:CN226080 {source="MONDO:equivalentTo"} is_a: MONDO:0005066 {source="Orphanet:397922"} ! metabolic disease @@ -353190,7 +353028,7 @@ name: severe intellectual disability-progressive postnatal microcephaly- midline subset: ordo_disease {source="Orphanet:397933"} synonym: "IQSEC2-related syndromic intellectual disability" EXACT [Orphanet:397933] synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [Orphanet:397933] -xref: ICD10CM:Q87.8 {source="ORDO:397933/attributed", source="ORDO:397933/ntbt", source="Orphanet:397933"} +xref: ICD10CM:Q87.8 {source="Orphanet:397933/attributed", source="Orphanet:397933/ntbt", source="Orphanet:397933"} xref: Orphanet:397933 {source="MONDO:equivalentTo"} xref: UMLS:CN226082 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:397933"} ! X-linked syndromic intellectual disability @@ -353215,7 +353053,7 @@ synonym: "congenital disorder of glycosylation type II due to MAN1B1 deficiency" synonym: "intellectual disability-truncal obesity syndrome" EXACT [Orphanet:397941] synonym: "MAN1B1-CDG" EXACT CLINGEN_PREFERRED [] xref: GARD:0012417 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:397941/attributed", source="ORDO:397941/ntbt", source="Orphanet:397941"} +xref: ICD10CM:E77.8 {source="Orphanet:397941", source="Orphanet:397941/attributed", source="Orphanet:397941/ntbt"} xref: Orphanet:397941 {source="MONDO:equivalentTo"} xref: SCTID:733450008 {source="MONDO:equivalentTo"} xref: UMLS:C4518783 {source="MONDO:equivalentTo"} @@ -353240,11 +353078,11 @@ subset: ordo_disease {source="Orphanet:398053"} synonym: "adenocarcinoma of the penis" RELATED [Orphanet:398053] synonym: "penile adenocarcinoma" EXACT [NCIT:C27817, Orphanet:398053] synonym: "penis adenocarcinoma" EXACT [MONDO:patterns/location] -xref: ICD10CM:C60.0 {source="ORDO:398053/ntbt", source="Orphanet:398053"} -xref: ICD10CM:C60.1 {source="ORDO:398053/ntbt", source="Orphanet:398053"} -xref: ICD10CM:C60.2 {source="ORDO:398053/ntbt", source="Orphanet:398053"} -xref: ICD10CM:C60.8 {source="ORDO:398053/ntbt", source="Orphanet:398053"} -xref: ICD10CM:C60.9 {source="ORDO:398053/ntbt", source="Orphanet:398053"} +xref: ICD10CM:C60.0 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} +xref: ICD10CM:C60.1 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} +xref: ICD10CM:C60.2 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} +xref: ICD10CM:C60.8 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} +xref: ICD10CM:C60.9 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} xref: Orphanet:398053 {source="MONDO:equivalentTo"} intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0000989 ! penis @@ -353269,11 +353107,11 @@ synonym: "PSCC" RELATED ABBREVIATION [ONCOTREE:PSCC] synonym: "squamous cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729] synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729] xref: DOID:5518 {source="MONDO:equivalentTo"} -xref: ICD10CM:C60.0 {source="Orphanet:398058", source="ORDO:398058/ntbt"} -xref: ICD10CM:C60.1 {source="Orphanet:398058", source="ORDO:398058/ntbt"} -xref: ICD10CM:C60.2 {source="Orphanet:398058", source="ORDO:398058/ntbt"} -xref: ICD10CM:C60.8 {source="Orphanet:398058", source="ORDO:398058/ntbt"} -xref: ICD10CM:C60.9 {source="Orphanet:398058", source="ORDO:398058/ntbt"} +xref: ICD10CM:C60.0 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} +xref: ICD10CM:C60.1 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} +xref: ICD10CM:C60.2 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} +xref: ICD10CM:C60.8 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} +xref: ICD10CM:C60.9 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} xref: NCIT:C6979 {source="DOID:5518"} xref: NCIT:C7729 {source="MONDO:equivalentTo", source="DOID:5518"} xref: ONCOTREE:PSCC {source="MONDO:equivalentTo"} @@ -353298,7 +353136,7 @@ synonym: "refractory sprue" EXACT [Orphanet:398063] synonym: "type I refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "type II refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] xref: EFO:0009266 {source="MONDO:equivalentTo"} -xref: ICD10CM:K90.0 {source="MONDO:relatedTo", source="Orphanet:398063", source="ORDO:398063/ntbt"} +xref: ICD10CM:K90.0 {source="MONDO:relatedTo", source="Orphanet:398063/ntbt", source="Orphanet:398063"} xref: Orphanet:398063 {source="MONDO:equivalentTo"} xref: UMLS:CN226092 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="Orphanet:398063"} ! intestinal disorder @@ -353312,7 +353150,7 @@ name: Prader-Willi-like syndrome def: "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." [Orphanet:398073] subset: ordo_disease {source="Orphanet:398073"} synonym: "PWS-like" EXACT [Orphanet:398073] -xref: ICD10CM:Q87.1 {source="ORDO:398073/attributed", source="ORDO:398073/ntbt", source="Orphanet:398073"} +xref: ICD10CM:Q87.1 {source="Orphanet:398073/attributed", source="Orphanet:398073/ntbt", source="Orphanet:398073"} xref: Orphanet:398073 {source="MONDO:equivalentTo"} xref: UMLS:CN226094 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder @@ -353332,7 +353170,7 @@ synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED DEPRECATED synonym: "PWS-like due to a point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "PWS-like due to point mutation" RELATED DEPRECATED [Orphanet:398079] synonym: "SIM1-related PWLS" EXACT [Orphanet:398079] -xref: ICD10CM:Q87.1 {source="Orphanet:398079", source="ORDO:398079/attributed", source="ORDO:398079/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:398079/attributed", source="Orphanet:398079/ntbt", source="Orphanet:398079"} xref: Orphanet:398079 {source="MONDO:equivalentTo"} xref: UMLS:CN226095 {source="MONDO:equivalentTo"} is_a: MONDO:0018354 {source="Orphanet:398079"} ! Prader-Willi-like syndrome @@ -353354,7 +353192,7 @@ name: neonatal antiphospholipid syndrome subset: ordo_disease {source="Orphanet:398097"} synonym: "neonatal antiphospholipid antibody syndrome" EXACT [Orphanet:398097] synonym: "neonatal Hughes syndrome" EXACT [Orphanet:398097] -xref: ICD10CM:D68.6 {source="ORDO:398097/ntbt", source="Orphanet:398097"} +xref: ICD10CM:D68.6 {source="Orphanet:398097/ntbt", source="Orphanet:398097"} xref: Orphanet:398097 {source="MONDO:equivalentTo"} xref: UMLS:CN226098 {source="MONDO:equivalentTo"} is_a: MONDO:0018356 {source="Orphanet:398097"} ! secondary neonatal autoimmune disease @@ -353366,7 +353204,7 @@ name: neonatal autoimmune hemolytic anemia subset: ordo_disease {source="Orphanet:398109"} synonym: "neonatal AHA" EXACT [Orphanet:398109] synonym: "neonatal AIHA" EXACT [Orphanet:398109] -xref: ICD10CM:D59.1 {source="ORDO:398109/ntbt", source="Orphanet:398109"} +xref: ICD10CM:D59.1 {source="Orphanet:398109/ntbt", source="Orphanet:398109"} xref: Orphanet:398109 {source="MONDO:equivalentTo"} is_a: MONDO:0003664 {source="MONDO:cjm"} ! hemolytic anemia is_a: MONDO:0018356 {source="Orphanet:398109"} ! secondary neonatal autoimmune disease @@ -353376,7 +353214,7 @@ id: MONDO:0018359 name: neonatal dermatomyositis subset: ordo_disease {source="Orphanet:398117"} synonym: "neonatal DM" EXACT [Orphanet:398117] -xref: ICD10CM:M33.1 {source="ORDO:398117/ntbt", source="Orphanet:398117"} +xref: ICD10CM:M33.1 {source="Orphanet:398117", source="Orphanet:398117/ntbt"} xref: Orphanet:398117 {source="MONDO:equivalentTo"} is_a: MONDO:0016367 {source="MONDO:cjm"} ! dermatomyositis is_a: MONDO:0018356 {source="Orphanet:398117"} ! secondary neonatal autoimmune disease @@ -353394,7 +353232,7 @@ synonym: "neonatal SLE" RELATED [GARD:0009563] synonym: "neonatal systemic lupus erythematosus" RELATED [GARD:0009563] xref: EFO:0004537 {source="MONDO:equivalentTo"} xref: GARD:0009563 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:M32.8 {source="Orphanet:398124", source="ORDO:398124/ntbt"} +xref: ICD10CM:M32.8 {source="Orphanet:398124", source="Orphanet:398124/ntbt"} xref: MESH:C536397 {source="MONDO:equivalentTo"} xref: NCIT:C99236 {source="MONDO:equivalentTo", source="EFO:0004537"} xref: Orphanet:398124 {source="MONDO:equivalentTo"} @@ -353407,7 +353245,7 @@ is_a: MONDO:0018356 {source="Orphanet:398124"} ! secondary neonatal autoimmune d id: MONDO:0018361 name: neonatal scleroderma subset: ordo_disease {source="Orphanet:398127"} -xref: ICD10CM:P83.8 {source="ORDO:398127/ntbt", source="Orphanet:398127"} +xref: ICD10CM:P83.8 {source="Orphanet:398127", source="Orphanet:398127/ntbt"} xref: Orphanet:398127 {source="MONDO:equivalentTo"} is_a: MONDO:0018356 {source="Orphanet:398127"} ! secondary neonatal autoimmune disease is_a: MONDO:0019340 {source="MONDO:cjm"} ! scleroderma @@ -353420,7 +353258,7 @@ subset: ordo_disease {source="Orphanet:398147"} synonym: "AFP" EXACT ABBREVIATION [Orphanet:398147] synonym: "atypical facial pain" EXACT [Orphanet:398147] synonym: "PIFP" EXACT ABBREVIATION [Orphanet:398147] -xref: ICD10CM:G50.1 {source="ORDO:398147/e", source="Orphanet:398147"} +xref: ICD10CM:G50.1 {source="Orphanet:398147", source="Orphanet:398147/e"} xref: Orphanet:398147 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="Orphanet:398147"} ! nervous system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0020009"} ! rare @@ -353432,11 +353270,11 @@ name: focal facial dermal dysplasia def: "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." [Orphanet:398166] subset: ordo_malformation_syndrome {source="Orphanet:398166"} synonym: "FFDD" EXACT ABBREVIATION [Orphanet:398166] -xref: ICD10CM:Q82.8 {source="Orphanet:398166", source="ORDO:398166/attributed", source="ORDO:398166/ntbt"} -xref: OMIM:136500 {source="Orphanet:398166", source="MONDO:superClassOf", source="ORDO:398166/btnt"} -xref: OMIM:227260 {source="Orphanet:398166", source="MONDO:superClassOf", source="ORDO:398166/btnt"} -xref: OMIM:614973 {source="Orphanet:398166", source="MONDO:superClassOf", source="ORDO:398166/btnt"} -xref: OMIM:614974 {source="Orphanet:398166", source="MONDO:superClassOf", source="ORDO:398166/btnt"} +xref: ICD10CM:Q82.8 {source="Orphanet:398166", source="Orphanet:398166/attributed", source="Orphanet:398166/ntbt"} +xref: OMIM:136500 {source="Orphanet:398166", source="Orphanet:398166/btnt", source="MONDO:superClassOf"} +xref: OMIM:227260 {source="Orphanet:398166", source="Orphanet:398166/btnt", source="MONDO:superClassOf"} +xref: OMIM:614973 {source="Orphanet:398166", source="Orphanet:398166/btnt", source="MONDO:superClassOf"} +xref: OMIM:614974 {source="Orphanet:398166", source="Orphanet:398166/btnt", source="MONDO:superClassOf"} xref: OMIMPS:136500 {source="MONDO:equivalentTo"} xref: Orphanet:398166 {source="MONDO:equivalentTo"} xref: UMLS:C2936827 {source="Orphanet:398166", source="MONDO:notFoundInDiseaseSubset"} @@ -353507,10 +353345,10 @@ synonym: "primary peritoneal serous papillary adenocarcinoma" EXACT [NCIT:C7695] synonym: "primary peritoneal serous papillary carcinoma" EXACT [NCIT:C7695] synonym: "primary serous papillary carcinoma of peritoneum" EXACT [DOID:6228, NCIT:C7695] xref: DOID:6228 {source="MONDO:equivalentTo"} -xref: ICD10CM:C48.0 {source="Orphanet:398980", source="ORDO:398980/ntbt"} -xref: ICD10CM:C48.1 {source="Orphanet:398980", source="ORDO:398980/ntbt"} -xref: ICD10CM:C48.2 {source="Orphanet:398980", source="ORDO:398980/ntbt"} -xref: ICD10CM:C48.8 {source="Orphanet:398980", source="ORDO:398980/ntbt"} +xref: ICD10CM:C48.0 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} +xref: ICD10CM:C48.1 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} +xref: ICD10CM:C48.2 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} +xref: ICD10CM:C48.8 {source="Orphanet:398980", source="Orphanet:398980/ntbt"} xref: NCIT:C7695 {source="DOID:6228", source="MONDO:equivalentTo"} xref: Orphanet:398980 {source="MONDO:equivalentTo"} xref: SCTID:15674004 {source="DOID:6228"} @@ -353543,7 +353381,7 @@ synonym: "ovarian immature teratoma" EXACT [NCIT:C8111, Orphanet:398987] synonym: "ovarian malignant teratoma" EXACT [Orphanet:398987] synonym: "ovary malignant teratoma" EXACT [MONDO:patterns/location] xref: DOID:6331 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:398987/ntbt", source="Orphanet:398987"} +xref: ICD10CM:C56 {source="Orphanet:398987", source="Orphanet:398987/ntbt"} xref: NCIT:C8111 {source="MONDO:equivalentTo", source="DOID:6331"} xref: ONCOTREE:OIMT {source="MONDO:equivalentTo"} xref: Orphanet:398987 {source="MONDO:equivalentTo"} @@ -353561,7 +353399,7 @@ id: MONDO:0018370 name: KLHL9-related early-onset distal myopathy def: "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." [Orphanet:399081] subset: ordo_disease {source="Orphanet:399081"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:399081/attributed", source="ORDO:399081/ntbt", source="Orphanet:399081"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399081", source="Orphanet:399081/attributed", source="Orphanet:399081/ntbt"} xref: Orphanet:399081 {source="MONDO:equivalentTo"} xref: SCTID:763776004 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:399081"} ! autosomal dominant distal myopathy @@ -353571,7 +353409,7 @@ id: MONDO:0018371 name: nebulin-related early-onset distal myopathy subset: ordo_disease {source="Orphanet:399103"} synonym: "distal nebulin myopathy" RELATED [Orphanet:399103] -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399103", source="ORDO:399103/attributed", source="ORDO:399103/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:399103", source="Orphanet:399103/attributed", source="Orphanet:399103/ntbt"} xref: Orphanet:399103 {source="MONDO:equivalentTo"} is_a: MONDO:0016109 {source="Orphanet:399103"} ! autosomal recessive distal myopathy @@ -353589,12 +353427,12 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399164"} synonym: "avascular necrosis of bone" EXACT [DOID:10159, NCIT:C34841] synonym: "AVN" EXACT ABBREVIATION [Orphanet:399164] -xref: ICD10CM:M87.0 {source="ORDO:399164/btnt", source="Orphanet:399164"} -xref: ICD10CM:M87.1 {source="ORDO:399164/btnt", source="Orphanet:399164"} -xref: ICD10CM:M87.2 {source="ORDO:399164/btnt", source="Orphanet:399164"} -xref: ICD10CM:M87.3 {source="ORDO:399164/btnt", source="Orphanet:399164"} -xref: ICD10CM:M87.8 {source="ORDO:399164/btnt", source="Orphanet:399164"} -xref: ICD10CM:M87.9 {source="ORDO:399164/btnt", source="Orphanet:399164"} +xref: ICD10CM:M87.0 {source="Orphanet:399164/btnt", source="Orphanet:399164"} +xref: ICD10CM:M87.1 {source="Orphanet:399164/btnt", source="Orphanet:399164"} +xref: ICD10CM:M87.2 {source="Orphanet:399164/btnt", source="Orphanet:399164"} +xref: ICD10CM:M87.3 {source="Orphanet:399164/btnt", source="Orphanet:399164"} +xref: ICD10CM:M87.8 {source="Orphanet:399164/btnt", source="Orphanet:399164"} +xref: ICD10CM:M87.9 {source="Orphanet:399164/btnt", source="Orphanet:399164"} xref: NCIT:C34841 {source="MONDO:equivalentTo"} xref: Orphanet:399164 {source="MONDO:equivalentTo"} xref: SCTID:397758007 {source="MONDO:equivalentTo"} @@ -353607,9 +353445,9 @@ name: secondary avascular necrosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399169"} synonym: "secondary AVN" EXACT [Orphanet:399169] -xref: ICD10CM:M87.1 {source="Orphanet:399169", source="ORDO:399169/ntbt"} -xref: ICD10CM:M87.2 {source="Orphanet:399169", source="ORDO:399169/ntbt"} -xref: ICD10CM:M87.3 {source="Orphanet:399169", source="ORDO:399169/ntbt"} +xref: ICD10CM:M87.1 {source="Orphanet:399169", source="Orphanet:399169/ntbt"} +xref: ICD10CM:M87.2 {source="Orphanet:399169", source="Orphanet:399169/ntbt"} +xref: ICD10CM:M87.3 {source="Orphanet:399169", source="Orphanet:399169/ntbt"} xref: Orphanet:399169 {source="MONDO:equivalentTo"} is_a: MONDO:0018373 {source="Orphanet:399169"} ! avascular necrosis @@ -353618,7 +353456,7 @@ id: MONDO:0018375 name: traumatic avascular necrosis subset: ordo_disease {source="Orphanet:399175"} synonym: "traumatic AVN" EXACT [Orphanet:399175] -xref: ICD10CM:M87.2 {source="ORDO:399175/e", source="Orphanet:399175"} +xref: ICD10CM:M87.2 {source="Orphanet:399175/e", source="Orphanet:399175"} xref: Orphanet:399175 {source="MONDO:equivalentTo"} is_a: MONDO:0018374 {source="Orphanet:399175"} ! secondary avascular necrosis @@ -353627,8 +353465,8 @@ id: MONDO:0018376 name: secondary non-traumatic avascular necrosis subset: ordo_disease {source="Orphanet:399180"} synonym: "secondary non-traumatic AVN" EXACT [Orphanet:399180] -xref: ICD10CM:M87.1 {source="ORDO:399180/ntbt", source="Orphanet:399180"} -xref: ICD10CM:M87.3 {source="ORDO:399180/ntbt", source="Orphanet:399180"} +xref: ICD10CM:M87.1 {source="Orphanet:399180", source="Orphanet:399180/ntbt"} +xref: ICD10CM:M87.3 {source="Orphanet:399180", source="Orphanet:399180/ntbt"} xref: Orphanet:399180 {source="MONDO:equivalentTo"} is_a: MONDO:0018374 {source="Orphanet:399180"} ! secondary avascular necrosis @@ -353667,7 +353505,7 @@ name: primary avascular necrosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399302"} synonym: "primary AVN" EXACT [Orphanet:399302] -xref: ICD10CM:M87.8 {source="Orphanet:399302", source="ORDO:399302/ntbt"} +xref: ICD10CM:M87.8 {source="Orphanet:399302/ntbt", source="Orphanet:399302"} xref: Orphanet:399302 {source="MONDO:equivalentTo"} is_a: MONDO:0018373 {source="Orphanet:399302"} ! avascular necrosis @@ -353676,7 +353514,7 @@ id: MONDO:0018380 name: idiopathic avascular necrosis subset: ordo_disease {source="Orphanet:399307"} synonym: "idiopathic AVN" EXACT [Orphanet:399307] -xref: ICD10CM:M87.0 {source="Orphanet:399307", source="ORDO:399307/e"} +xref: ICD10CM:M87.0 {source="Orphanet:399307", source="Orphanet:399307/e"} xref: Orphanet:399307 {source="MONDO:equivalentTo"} is_a: MONDO:0018379 {source="Orphanet:399307"} ! primary avascular necrosis relationship: has_modifier MONDO:0700005 ! idiopathic @@ -353700,7 +353538,7 @@ xref: EFO:0008575 {source="MONDO:equivalentTo"} xref: GARD:0012704 {source="MONDO:equivalentTo"} xref: ICD10CM:M42 {source="MONDO:equivalentTo"} xref: ICD10CM:M92 {source="DOID:8125"} -xref: ICD10CM:M93.9 {source="ORDO:399319/ntbt", source="Orphanet:399319", source="DOID:8125"} +xref: ICD10CM:M93.9 {source="Orphanet:399319/ntbt", source="Orphanet:399319", source="DOID:8125"} xref: ICD9:732.6 {source="MONDO:relatedTo", source="i2s", source="DOID:8125"} xref: MESH:D055034 {source="MONDO:equivalentTo", source="DOID:8125"} xref: NCIT:C34879 {source="MONDO:equivalentTo", source="DOID:8125"} @@ -353728,7 +353566,7 @@ synonym: "slipped capital femoral epiphysis" EXACT [Orphanet:399329] synonym: "slipped upper femoral epiphysis" EXACT [Orphanet:399329] synonym: "SufE" EXACT [Orphanet:399329] xref: EFO:1001317 {source="MONDO:equivalentTo"} -xref: ICD10CM:M93.9 {source="ORDO:399329/ntbt", source="Orphanet:399329"} +xref: ICD10CM:M93.9 {source="Orphanet:399329", source="Orphanet:399329/ntbt"} xref: Orphanet:399329 {source="MONDO:equivalentTo"} xref: SCTID:26460006 {source="MONDO:equivalentTo"} is_a: MONDO:0005380 {source="Orphanet:399329"} ! osteonecrosis @@ -353741,7 +353579,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399380"} synonym: "bone necrosis of genetic origin" EXACT [Orphanet:399380] synonym: "genetic osteonecrosis" EXACT [MONDO:patterns/genetic] -xref: ICD10CM:M93.9 {source="ORDO:399380/attributed", source="ORDO:399380/ntbt", source="Orphanet:399380"} +xref: ICD10CM:M93.9 {source="Orphanet:399380/attributed", source="Orphanet:399380/ntbt", source="Orphanet:399380"} xref: Orphanet:399380 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="MONDO:Entailed", source="Orphanet:399380"} ! bone disorder intersection_of: MONDO:0005380 ! osteonecrosis @@ -353755,7 +353593,7 @@ def: "An instance of avascular necrosis that is caused by a modification of the subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399388"} synonym: "genetic avascular necrosis" EXACT [MONDO:patterns/genetic] -xref: ICD10CM:M93.9 {source="Orphanet:399388", source="ORDO:399388/attributed", source="ORDO:399388/ntbt"} +xref: ICD10CM:M93.9 {source="Orphanet:399388/attributed", source="Orphanet:399388/ntbt", source="Orphanet:399388"} xref: Orphanet:399388 {source="MONDO:equivalentTo"} is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:399388"} ! osteonecrosis of genetic origin intersection_of: MONDO:0018373 ! avascular necrosis @@ -353768,7 +353606,7 @@ def: "An instance of osteochondrosis that is caused by a modification of the ind subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399391"} synonym: "genetic osteochondrosis" EXACT [MONDO:patterns/genetic] -xref: ICD10CM:M93.9 {source="ORDO:399391/attributed", source="ORDO:399391/ntbt", source="Orphanet:399391"} +xref: ICD10CM:M93.9 {source="Orphanet:399391/attributed", source="Orphanet:399391/ntbt", source="Orphanet:399391"} xref: Orphanet:399391 {source="MONDO:equivalentTo"} is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:399391"} ! osteonecrosis of genetic origin intersection_of: MONDO:0018381 ! osteochondrosis @@ -353788,7 +353626,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:399572/ntbt", source="Orphanet:399572"} +consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399572/ntbt", source="Orphanet:399572"} [Term] id: MONDO:0018387 @@ -353802,7 +353640,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399584", source="ORDO:399584/ntbt"} +consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399584", source="Orphanet:399584/ntbt"} [Term] id: MONDO:0018388 @@ -353816,7 +353654,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399685", source="ORDO:399685/attributed", source="ORDO:399685/ntbt"} +consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399685/attributed", source="Orphanet:399685/ntbt", source="Orphanet:399685"} [Term] id: MONDO:0018389 @@ -353824,7 +353662,7 @@ name: obsolete male infertility due to gonadal dysgenesis or sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399764"} synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [Orphanet:399764] -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399764", source="ORDO:399764/attributed", source="ORDO:399764/ntbt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399764/attributed", source="Orphanet:399764/ntbt", source="Orphanet:399764"} xref: Orphanet:399764 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227337 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -353837,7 +353675,7 @@ id: MONDO:0018390 name: obsolete male infertility due to sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399771"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399771", source="ORDO:399771/attributed", source="ORDO:399771/ntbt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399771", source="Orphanet:399771/attributed", source="Orphanet:399771/ntbt"} xref: Orphanet:399771 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227338 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -353851,7 +353689,7 @@ name: obsolete male infertility with spermatogenesis disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399775"} xref: GARD:0012512 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399775", source="ORDO:399775/attributed", source="ORDO:399775/ntbt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399775/attributed", source="Orphanet:399775/ntbt", source="Orphanet:399775"} xref: Orphanet:399775 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227339 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -353866,7 +353704,7 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: gard_rare {source="GARD:0012513"} subset: ordo_group_of_disorders {source="Orphanet:399786"} xref: GARD:0012513 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399786", source="ORDO:399786/attributed", source="ORDO:399786/ntbt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399786/attributed", source="Orphanet:399786/ntbt", source="Orphanet:399786"} xref: Orphanet:399786 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227340 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -353880,18 +353718,18 @@ id: MONDO:0018393 name: male infertility with azoospermia or oligozoospermia due to single gene mutation def: "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." [Orphanet:399805] subset: ordo_disease {source="Orphanet:399805"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:399805/attributed", source="ORDO:399805/ntbt", source="Orphanet:399805"} -xref: OMIM:108420 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:258150 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:270960 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399805/attributed", source="Orphanet:399805/ntbt", source="Orphanet:399805"} +xref: OMIM:108420 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:258150 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:270960 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} xref: OMIM:305700 {source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:309120 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:613957 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:615081 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:615413 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:615841 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:615842 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} -xref: OMIM:616950 {source="ORDO:399805/btnt", source="MONDO:superClassOf", source="Orphanet:399805"} +xref: OMIM:309120 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:613957 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:615081 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:615413 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:615841 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:615842 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} +xref: OMIM:616950 {source="MONDO:superClassOf", source="Orphanet:399805/btnt", source="Orphanet:399805"} xref: Orphanet:399805 {source="MONDO:equivalentTo"} xref: UMLS:CN225947 {source="MONDO:equivalentTo"} is_a: MONDO:0005372 {source="Orphanet:399805"} ! male infertility @@ -353902,11 +353740,11 @@ name: male infertility with teratozoospermia due to single gene mutation def: "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." [Orphanet:399808] subset: ordo_disease {source="Orphanet:399808"} xref: GARD:0012514 {source="MONDO:equivalentTo"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:399808/attributed", source="ORDO:399808/ntbt", source="Orphanet:399808"} -xref: OMIM:102530 {source="MONDO:superClassOf", source="ORDO:399808/btnt", source="Orphanet:399808"} -xref: OMIM:243060 {source="MONDO:superClassOf", source="ORDO:399808/btnt", source="Orphanet:399808"} -xref: OMIM:613958 {source="MONDO:superClassOf", source="ORDO:399808/btnt", source="Orphanet:399808"} -xref: OMIM:615413 {source="MONDO:superClassOf", source="ORDO:399808/btnt", source="Orphanet:399808"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399808/attributed", source="Orphanet:399808/ntbt", source="Orphanet:399808"} +xref: OMIM:102530 {source="MONDO:superClassOf", source="Orphanet:399808/btnt", source="Orphanet:399808"} +xref: OMIM:243060 {source="MONDO:superClassOf", source="Orphanet:399808/btnt", source="Orphanet:399808"} +xref: OMIM:613958 {source="MONDO:superClassOf", source="Orphanet:399808/btnt", source="Orphanet:399808"} +xref: OMIM:615413 {source="MONDO:superClassOf", source="Orphanet:399808/btnt", source="Orphanet:399808"} xref: Orphanet:399808 {source="MONDO:equivalentTo"} xref: SCTID:764096006 {source="MONDO:equivalentTo"} xref: UMLS:CN252642 {source="MONDO:equivalentTo"} @@ -353918,7 +353756,7 @@ name: obsolete male infertility due to sperm motility disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399813"} synonym: "Male infertility due to asthenozoospermia" EXACT [Orphanet:399813] -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:399813/attributed", source="ORDO:399813/ntbt", source="Orphanet:399813"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399813", source="Orphanet:399813/attributed", source="Orphanet:399813/ntbt"} xref: Orphanet:399813 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227341 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -353955,7 +353793,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N97.0 {source="Orphanet:399831", source="ORDO:399831/ntbt"} +consider: ICD10CM:N97.0 {source="Orphanet:399831/ntbt", source="Orphanet:399831"} [Term] id: MONDO:0018398 @@ -353963,7 +353801,7 @@ name: obsolete female infertility due to a congenital hypogonadotropic hypogonad comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399846", source="Orphanet:399839"} synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [Orphanet:399846] -xref: ICD10CM:N97.0 {source="Orphanet:399839", source="ORDO:399839/attributed", source="ORDO:399839/ntbt"} +xref: ICD10CM:N97.0 {source="Orphanet:399839/attributed", source="Orphanet:399839/ntbt", source="Orphanet:399839"} xref: Orphanet:399839 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -354004,7 +353842,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N97.0 {source="Orphanet:399853", source="ORDO:399853/ntbt"} +consider: ICD10CM:N97.0 {source="Orphanet:399853/ntbt", source="Orphanet:399853"} [Term] id: MONDO:0018402 @@ -354014,7 +353852,7 @@ subset: ordo_group_of_disorders {source="Orphanet:399877"} synonym: "female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] synonym: "rare female infertility due to gonadal dysgenesis" RELATED [Orphanet:399877] synonym: "rare female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] -xref: ICD10CM:N97.0 {source="ORDO:399877/attributed", source="ORDO:399877/ntbt", source="Orphanet:399877"} +xref: ICD10CM:N97.0 {source="Orphanet:399877", source="Orphanet:399877/attributed", source="Orphanet:399877/ntbt"} xref: Orphanet:399877 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -354027,7 +353865,7 @@ name: obsolete female infertility due to an implantation defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399882"} synonym: "rare female infertility due to an implantation defect" RELATED [Orphanet:399882] -xref: ICD10CM:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="ORDO:399882/ntbt"} +xref: ICD10CM:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="Orphanet:399882/ntbt"} xref: Orphanet:399882 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -354064,7 +353902,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399983", source="ORDO:399983/attributed", source="ORDO:399983/ntbt"} +consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399983", source="Orphanet:399983/attributed", source="Orphanet:399983/ntbt"} [Term] id: MONDO:0018406 @@ -354078,7 +353916,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399994", source="ORDO:399994/attributed", source="ORDO:399994/ntbt"} +consider: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399994", source="Orphanet:399994/attributed", source="Orphanet:399994/ntbt"} [Term] id: MONDO:0018407 @@ -354086,7 +353924,7 @@ name: obsolete male infertility due to obstructive azoospermia of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399998"} synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [Orphanet:399998] -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:399998/attributed", source="ORDO:399998/ntbt", source="Orphanet:399998"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:399998", source="Orphanet:399998/attributed", source="Orphanet:399998/ntbt"} xref: Orphanet:399998 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -354115,24 +353953,24 @@ synonym: "unilocular echinococcosis" EXACT [DOID:1495] synonym: "unilocular hydatid disease" EXACT [DOID:1495] xref: DOID:1495 {source="MONDO:equivalentTo"} xref: GARD:0002764 {source="MONDO:equivalentTo"} -xref: ICD10CM:B67.0 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.1 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.2 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.3 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.4 {source="Orphanet:400", source="DOID:1495", source="ORDO:400/btnt"} -xref: ICD10CM:B67.5 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.6 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.7 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.8 {source="Orphanet:400", source="ORDO:400/btnt"} -xref: ICD10CM:B67.9 {source="Orphanet:400", source="ORDO:400/btnt"} +xref: ICD10CM:B67.0 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.1 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.2 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.3 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.4 {source="Orphanet:400", source="DOID:1495", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.5 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.6 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.7 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.8 {source="Orphanet:400", source="Orphanet:400/btnt"} +xref: ICD10CM:B67.9 {source="Orphanet:400", source="Orphanet:400/btnt"} xref: ICD9:122.4 {source="DOID:1495"} -xref: MedDRA:10014096 {source="Orphanet:400", source="ORDO:400/e"} -xref: MESH:D004443 {source="MONDO:subClassOf", source="Orphanet:400", source="ORDO:400/e"} +xref: MedDRA:10014096 {source="Orphanet:400", source="Orphanet:400/e"} +xref: MESH:D004443 {source="MONDO:subClassOf", source="Orphanet:400", source="Orphanet:400/e"} xref: Orphanet:400 {source="MONDO:equivalentTo"} xref: SCTID:187138004 {source="DOID:1495"} xref: SCTID:721822004 {source="MONDO:equivalentTo"} xref: SCTID:75006000 {source="MONDO:subClassOf", source="DOID:1495"} -xref: UMLS:C0013502 {source="MONDO:subClassOf", source="Orphanet:400", source="GARD:0002764", source="ORDO:400/e"} +xref: UMLS:C0013502 {source="MONDO:subClassOf", source="Orphanet:400", source="GARD:0002764", source="Orphanet:400/e"} xref: UMLS:C0152068 {source="MONDO:subClassOf", source="DOID:1495"} xref: UMLS:C0153290 {source="MONDO:equivalentTo"} xref: UMLS:C0153291 {source="MONDO:equivalentTo"} @@ -354189,7 +354027,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N97.0 {source="ORDO:400011/attributed", source="ORDO:400011/ntbt", source="Orphanet:400011"} +consider: ICD10CM:N97.0 {source="Orphanet:400011/attributed", source="Orphanet:400011/ntbt", source="Orphanet:400011"} [Term] id: MONDO:0018412 @@ -354216,14 +354054,14 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:N97.0 {source="ORDO:400022/attributed", source="ORDO:400022/ntbt", source="Orphanet:400022"} +consider: ICD10CM:N97.0 {source="Orphanet:400022/attributed", source="Orphanet:400022/ntbt", source="Orphanet:400022"} [Term] id: MONDO:0018414 name: obsolete female infertility due to an implantation defect of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:400025"} -xref: ICD10CM:N97.2 {source="Orphanet:400025", source="MONDO:relatedTo", source="ORDO:400025/attributed", source="ORDO:400025/ntbt"} +xref: ICD10CM:N97.2 {source="Orphanet:400025", source="MONDO:relatedTo", source="Orphanet:400025/attributed", source="Orphanet:400025/ntbt"} xref: Orphanet:400025 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -354241,7 +354079,7 @@ id: MONDO:0018416 name: autosomal recessive spastic paraplegia type 59 subset: ordo_disease {source="Orphanet:401795"} synonym: "SPG59" EXACT ABBREVIATION [Orphanet:401795] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401795", source="ORDO:401795/attributed", source="ORDO:401795/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401795", source="Orphanet:401795/attributed", source="Orphanet:401795/ntbt"} xref: Orphanet:401795 {source="MONDO:equivalentTo"} xref: UMLS:CN226121 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401795"} ! autosomal recessive complex spastic paraplegia @@ -354251,7 +354089,7 @@ id: MONDO:0018417 name: autosomal recessive spastic paraplegia type 60 subset: ordo_disease {source="Orphanet:401800"} synonym: "SPG60" EXACT ABBREVIATION [Orphanet:401800] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401800", source="ORDO:401800/attributed", source="ORDO:401800/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401800/attributed", source="Orphanet:401800/ntbt", source="Orphanet:401800"} xref: Orphanet:401800 {source="MONDO:equivalentTo"} xref: UMLS:CN226122 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401800"} ! autosomal recessive complex spastic paraplegia @@ -354261,7 +354099,7 @@ id: MONDO:0018418 name: autosomal recessive spastic paraplegia type 66 subset: ordo_disease {source="Orphanet:401815"} synonym: "SPG66" EXACT ABBREVIATION [Orphanet:401815] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:401815/attributed", source="ORDO:401815/ntbt", source="Orphanet:401815"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401815", source="Orphanet:401815/attributed", source="Orphanet:401815/ntbt"} xref: Orphanet:401815 {source="MONDO:equivalentTo"} xref: UMLS:CN226125 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401815"} ! autosomal recessive complex spastic paraplegia @@ -354272,7 +354110,7 @@ name: autosomal recessive spastic paraplegia type 67 def: "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." [Orphanet:401820] subset: ordo_disease {source="Orphanet:401820"} synonym: "SPG67" EXACT ABBREVIATION [Orphanet:401820] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401820", source="ORDO:401820/attributed", source="ORDO:401820/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401820", source="Orphanet:401820/attributed", source="Orphanet:401820/ntbt"} xref: Orphanet:401820 {source="MONDO:equivalentTo"} xref: SCTID:766767001 {source="MONDO:equivalentTo"} xref: UMLS:CN226126 {source="MONDO:equivalentTo"} @@ -354283,7 +354121,7 @@ id: MONDO:0018420 name: autosomal recessive spastic paraplegia type 68 subset: ordo_disease {source="Orphanet:401825"} synonym: "SPG68" EXACT ABBREVIATION [Orphanet:401825] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:401825/attributed", source="ORDO:401825/ntbt", source="Orphanet:401825"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401825", source="Orphanet:401825/attributed", source="Orphanet:401825/ntbt"} xref: Orphanet:401825 {source="MONDO:equivalentTo"} xref: UMLS:CN226127 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401825"} ! autosomal recessive complex spastic paraplegia @@ -354293,7 +354131,7 @@ id: MONDO:0018421 name: autosomal recessive spastic paraplegia type 69 subset: ordo_disease {source="Orphanet:401830"} synonym: "SPG69" EXACT ABBREVIATION [Orphanet:401830] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401830", source="ORDO:401830/attributed", source="ORDO:401830/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401830/attributed", source="Orphanet:401830/ntbt", source="Orphanet:401830"} xref: Orphanet:401830 {source="MONDO:equivalentTo"} xref: UMLS:CN226128 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401830"} ! autosomal recessive complex spastic paraplegia @@ -354304,7 +354142,7 @@ name: autosomal recessive spastic paraplegia type 70 def: "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." [Orphanet:401835] subset: ordo_disease {source="Orphanet:401835"} synonym: "SPG70" EXACT ABBREVIATION [Orphanet:401835] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="ORDO:401835/attributed", source="ORDO:401835/ntbt", source="Orphanet:401835"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401835", source="Orphanet:401835/attributed", source="Orphanet:401835/ntbt"} xref: Orphanet:401835 {source="MONDO:equivalentTo"} xref: UMLS:CN226129 {source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401835"} ! autosomal recessive complex spastic paraplegia @@ -354314,7 +354152,7 @@ id: MONDO:0018423 name: autosomal recessive spastic paraplegia type 71 subset: ordo_disease {source="Orphanet:401840"} synonym: "SPG71" EXACT ABBREVIATION [Orphanet:401840] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401840", source="ORDO:401840/attributed", source="ORDO:401840/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:401840", source="Orphanet:401840/attributed", source="Orphanet:401840/ntbt"} xref: Orphanet:401840 {source="MONDO:equivalentTo"} xref: UMLS:CN226130 {source="MONDO:equivalentTo"} is_a: MONDO:0015090 {source="Orphanet:401840"} ! autosomal recessive pure spastic paraplegia @@ -354332,7 +354170,7 @@ synonym: "lipoic acid biosynthesis defect" RELATED [Orphanet:401854] synonym: "lipoic acid biosynthesis defects" RELATED [GARD:0012679] synonym: "rare inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:0012679 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E88.8 {source="Orphanet:401854", source="ORDO:401854/attributed", source="ORDO:401854/ntbt"} +xref: ICD10CM:E88.8 {source="Orphanet:401854/attributed", source="Orphanet:401854/ntbt", source="Orphanet:401854"} xref: Orphanet:401854 {source="MONDO:equivalentTo"} is_a: MONDO:0004069 {source="Orphanet:401854"} ! inborn mitochondrial metabolism disorder intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -354345,7 +354183,7 @@ subset: ordo_disease {source="Orphanet:401901"} synonym: "C9ORF72-related Huntington disease phenocopy" EXACT [Orphanet:401901] synonym: "C9ORF72-related Huntington disease-like syndrome" EXACT [Orphanet:401901] synonym: "Huntington disease phenocopy due to C9ORF72 expansions" EXACT [Orphanet:401901] -xref: ICD10CM:G10 {source="ORDO:401901/attributed", source="ORDO:401901/ntbt", source="Orphanet:401901"} +xref: ICD10CM:G10 {source="Orphanet:401901", source="Orphanet:401901/attributed", source="Orphanet:401901/ntbt"} xref: Orphanet:401901 {source="MONDO:equivalentTo"} xref: UMLS:CN226138 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 ! movement disorder @@ -354360,7 +354198,7 @@ subset: ordo_clinical_subtype {source="Orphanet:401911"} synonym: "AXIN2-related AFAP" EXACT [Orphanet:401911] synonym: "AXIN2-related attenuated familial polyposis coli" EXACT [Orphanet:401911] synonym: "AXIN2-related attenuated FAP" EXACT [Orphanet:401911] -xref: ICD10CM:D12.6 {source="ORDO:401911/attributed", source="ORDO:401911/ntbt", source="Orphanet:401911"} +xref: ICD10CM:D12.6 {source="Orphanet:401911", source="Orphanet:401911/attributed", source="Orphanet:401911/ntbt"} xref: Orphanet:401911 {source="MONDO:equivalentTo"} xref: UMLS:CN226139 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:401911"} ! attenuated familial adenomatous polyposis @@ -354377,7 +354215,7 @@ name: 9q31.1q31.3 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:401923"} synonym: "Del(9)(q31.1q31.3)" EXACT [Orphanet:401923] synonym: "monosomy 9q31.1q31.3" EXACT [Orphanet:401923] -xref: ICD10CM:Q93.5 {source="ORDO:401923/attributed", source="ORDO:401923/ntbt", source="Orphanet:401923"} +xref: ICD10CM:Q93.5 {source="Orphanet:401923", source="Orphanet:401923/attributed", source="Orphanet:401923/ntbt"} xref: Orphanet:401923 {source="MONDO:equivalentTo"} xref: UMLS:CN226140 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:401923", source="indirect"} ! syndromic intellectual disability @@ -354395,7 +354233,7 @@ name: 14q24.1q24.3 microdeletion syndrome subset: ordo_malformation_syndrome {source="Orphanet:401935"} synonym: "Del(14)(q24.1q24.3)" EXACT [Orphanet:401935] synonym: "monosomy 14q24.1q24.3" EXACT [Orphanet:401935] -xref: ICD10CM:Q93.5 {source="ORDO:401935/attributed", source="ORDO:401935/ntbt", source="Orphanet:401935"} +xref: ICD10CM:Q93.5 {source="Orphanet:401935", source="Orphanet:401935/attributed", source="Orphanet:401935/ntbt"} xref: Orphanet:401935 {source="MONDO:equivalentTo"} xref: UMLS:CN226142 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:401935"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -354412,7 +354250,7 @@ id: MONDO:0018430 name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome def: "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." [Orphanet:401959] subset: ordo_malformation_syndrome {source="Orphanet:401959"} -xref: ICD10CM:Q04.3 {source="ORDO:401959/attributed", source="ORDO:401959/ntbt", source="Orphanet:401959"} +xref: ICD10CM:Q04.3 {source="Orphanet:401959/attributed", source="Orphanet:401959/ntbt", source="Orphanet:401959"} xref: Orphanet:401959 {source="MONDO:equivalentTo"} xref: UMLS:CN226145 {source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:401959"} ! cerebral malformation @@ -354428,7 +354266,7 @@ comment: Editor note: in ORDO this is classified as AR, but this leads to incons subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:401993"} subset: ordo_inheritance_inconsistent -xref: ICD10CM:G90.8 {source="Orphanet:401993", source="ORDO:401993/attributed", source="ORDO:401993/ntbt"} +xref: ICD10CM:G90.8 {source="Orphanet:401993", source="Orphanet:401993/attributed", source="Orphanet:401993/ntbt"} xref: Orphanet:401993 {source="MONDO:equivalentTo"} xref: UMLS:CN226150 {source="MONDO:equivalentTo"} is_a: MONDO:0015364 {source="MONDO:cjm", source="Orphanet:401993/inferred"} ! hereditary sensory and autonomic neuropathy @@ -354442,7 +354280,7 @@ subset: ordo_group_of_disorders {source="Orphanet:402007"} synonym: "lichen myxoedematosus" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/] synonym: "lichenoid myxedema" RELATED [] synonym: "papular mucinosis" RELATED [https://www.dermnetnz.org/topics/lichen-myxoedematosus/] -xref: ICD10CM:L98.5 {source="Orphanet:402007", source="ORDO:402007/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:402007", source="Orphanet:402007/ntbt"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:402007 {source="MONDO:equivalentTo"} xref: SCTID:111197009 {source="MONDO:equivalentTo"} @@ -354456,7 +354294,7 @@ name: acute myeloid leukemia with t(6;9)(p23;q34) def: "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." [Orphanet:402014] subset: ordo_disease {source="Orphanet:402014"} synonym: "AML with t(6;9)(p23;q34)" EXACT [Orphanet:402014] -xref: ICD10CM:C92.0 {source="ORDO:402014/ntbt", source="Orphanet:402014"} +xref: ICD10CM:C92.0 {source="Orphanet:402014/ntbt", source="Orphanet:402014"} xref: Orphanet:402014 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402014"} ! acute myeloid leukemia @@ -354465,7 +354303,7 @@ id: MONDO:0018434 name: acute myeloid leukemia with t(9;11)(p22;q23) subset: ordo_disease {source="Orphanet:402017"} synonym: "AML with t(9;11)(p22;q23)" EXACT [Orphanet:402017] -xref: ICD10CM:C92.0 {source="Orphanet:402017", source="ORDO:402017/ntbt"} +xref: ICD10CM:C92.0 {source="Orphanet:402017/ntbt", source="Orphanet:402017"} xref: Orphanet:402017 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402017"} ! acute myeloid leukemia @@ -354479,7 +354317,7 @@ synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELA synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [Orphanet:402020] synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [Orphanet:402020] xref: GARD:0012759 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.0 {source="ORDO:402020/ntbt", source="Orphanet:402020"} +xref: ICD10CM:C92.0 {source="Orphanet:402020/ntbt", source="Orphanet:402020"} xref: Orphanet:402020 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402020"} ! acute myeloid leukemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262 xsd:anyURI {source="GARD:0012759"} @@ -354490,7 +354328,7 @@ name: megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) def: "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." [Orphanet:402023] subset: ordo_disease {source="Orphanet:402023"} synonym: "megakaryoblastic AML with t(1;22)(p13;q13)" EXACT [Orphanet:402023] -xref: ICD10CM:C94.2 {source="Orphanet:402023", source="ORDO:402023/ntbt"} +xref: ICD10CM:C94.2 {source="Orphanet:402023/ntbt", source="Orphanet:402023"} xref: Orphanet:402023 {source="MONDO:equivalentTo"} xref: SCTID:763796007 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402023"} ! acute myeloid leukemia @@ -354501,7 +354339,7 @@ name: acute myeloid leukemia with NPM1 somatic mutations def: "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." [Orphanet:402026] subset: ordo_disease {source="Orphanet:402026"} synonym: "AML with NPM1 somatic mutations" EXACT [Orphanet:402026] -xref: ICD10CM:C92.0 {source="Orphanet:402026", source="ORDO:402026/ntbt"} +xref: ICD10CM:C92.0 {source="Orphanet:402026", source="Orphanet:402026/ntbt"} xref: Orphanet:402026 {source="MONDO:equivalentTo"} xref: SCTID:763309005 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:402026"} ! acute myeloid leukemia @@ -354513,7 +354351,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:402029"} synonym: "EGID" EXACT ABBREVIATION [Orphanet:402029] synonym: "primary eosinophilic gastrointestinal disease" EXACT [PMID:22792476] -xref: ICD10CM:K52.8 {source="Orphanet:402029", source="ORDO:402029/ntbt"} +xref: ICD10CM:K52.8 {source="Orphanet:402029", source="Orphanet:402029/ntbt"} xref: Orphanet:402029 {source="MONDO:equivalentTo"} xref: UMLS:CN226154 {source="MONDO:equivalentTo"} is_a: MONDO:0005020 ! intestinal disorder @@ -354524,7 +354362,7 @@ id: MONDO:0018439 name: eosinophilic colitis def: "Inflammation of the colon that is characterized by eosinic infiltration." [NCIT:C27053] subset: ordo_disease {source="Orphanet:402035"} -xref: ICD10CM:K52.8 {source="ORDO:402035/ntbt", source="Orphanet:402035"} +xref: ICD10CM:K52.8 {source="Orphanet:402035/ntbt", source="Orphanet:402035"} xref: ICD10CM:K52.82 {source="MONDO:equivalentTo"} xref: ICD9:558.42 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C27053 {source="MONDO:equivalentTo"} @@ -354543,9 +354381,9 @@ synonym: "AR dRTA" EXACT [Orphanet:402041] synonym: "autosomal recessive distal renal tubular acidosis (disease)" EXACT [] synonym: "autosomal recessive distal RTA" EXACT [Orphanet:402041] synonym: "distal renal tubular acidosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:N25.8 {source="ORDO:402041/attributed", source="ORDO:402041/ntbt", source="Orphanet:402041"} -xref: OMIM:267300 {source="ORDO:402041/btnt", source="MONDO:superClassOf", source="Orphanet:402041"} -xref: OMIM:602722 {source="ORDO:402041/btnt", source="MONDO:superClassOf", source="Orphanet:402041"} +xref: ICD10CM:N25.8 {source="Orphanet:402041", source="Orphanet:402041/attributed", source="Orphanet:402041/ntbt"} +xref: OMIM:267300 {source="MONDO:superClassOf", source="Orphanet:402041", source="Orphanet:402041/btnt"} +xref: OMIM:602722 {source="MONDO:superClassOf", source="Orphanet:402041", source="Orphanet:402041/btnt"} xref: Orphanet:402041 {source="MONDO:equivalentTo"} xref: UMLS:C1864498 {source="MONDO:equivalentTo", source="Orphanet:402041"} is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:402041"} ! distal renal tubular acidosis @@ -354572,7 +354410,7 @@ synonym: "fetal acitretin syndrome" RELATED [GARD:0000468] synonym: "fetal acitretin/etretinate syndrome" EXACT [Orphanet:40366] synonym: "retinoid embryopathy" EXACT [Orphanet:40366] xref: GARD:0000468 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q86.8 {source="Orphanet:40366", source="ORDO:40366/ntbt"} +xref: ICD10CM:Q86.8 {source="Orphanet:40366", source="Orphanet:40366/ntbt"} xref: MESH:C538169 {source="MONDO:equivalentTo"} xref: Orphanet:40366 {source="MONDO:equivalentTo"} xref: SCTID:725287006 {source="MONDO:equivalentTo"} @@ -354585,7 +354423,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/468/acitretin id: MONDO:0018443 name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome subset: ordo_malformation_syndrome {source="Orphanet:404451"} -xref: ICD10CM:Q87.8 {source="ORDO:404451/attributed", source="ORDO:404451/ntbt", source="Orphanet:404451"} +xref: ICD10CM:Q87.8 {source="Orphanet:404451/attributed", source="Orphanet:404451/ntbt", source="Orphanet:404451"} xref: Orphanet:404451 {source="MONDO:equivalentTo"} xref: UMLS:CN226185 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404451", source="indirect"} ! syndromic intellectual disability @@ -354600,7 +354438,7 @@ subset: ordo_group_of_disorders {source="Orphanet:404469"} synonym: "female infertility due to fecundation defect" EXACT [Orphanet:404469] synonym: "rare female infertility due to oocyte maturation" RELATED [Orphanet:404469] synonym: "rare female infertility due to oocyte maturation defect" RELATED [Orphanet:404469] -xref: ICD10CM:N97.8 {source="Orphanet:404469", source="ORDO:404469/attributed", source="ORDO:404469/ntbt"} +xref: ICD10CM:N97.8 {source="Orphanet:404469", source="Orphanet:404469/attributed", source="Orphanet:404469/ntbt"} xref: Orphanet:404469 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -354612,7 +354450,7 @@ id: MONDO:0018445 name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome subset: ordo_malformation_syndrome {source="Orphanet:404476"} synonym: "glow syndrome" EXACT [Orphanet:404476] -xref: ICD10CM:Q87.3 {source="Orphanet:404476", source="ORDO:404476/attributed", source="ORDO:404476/ntbt"} +xref: ICD10CM:Q87.3 {source="Orphanet:404476/attributed", source="Orphanet:404476/ntbt", source="Orphanet:404476"} xref: Orphanet:404476 {source="MONDO:equivalentTo"} xref: UMLS:CN226190 {source="MONDO:equivalentTo"} is_a: MONDO:0017891 {source="Orphanet:404476"} ! inherited renal cancer-predisposing syndrome @@ -354623,7 +354461,7 @@ id: MONDO:0018446 name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404481"} -xref: ICD10CM:G11.1 {source="ORDO:404481/attributed", source="ORDO:404481/ntbt", source="Orphanet:404481"} +xref: ICD10CM:G11.1 {source="Orphanet:404481", source="Orphanet:404481/attributed", source="Orphanet:404481/ntbt"} xref: Orphanet:404481 {source="MONDO:equivalentTo"} xref: UMLS:CN226191 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:404481"} ! syndromic intellectual disability @@ -354638,7 +354476,7 @@ def: "An uncommon benign cartilaginous neoplasm arising from the bone. It is cha subset: ordo_disease {source="Orphanet:404507"} synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830] xref: EFO:0000332 {source="MONDO:equivalentTo"} -xref: ICD10CM:D16.9 {source="ORDO:404507/ntbt", source="Orphanet:404507"} +xref: ICD10CM:D16.9 {source="Orphanet:404507", source="Orphanet:404507/ntbt"} xref: ICDO:9241/0 {source="NCIT:C3830"} xref: NCIT:C3830 {source="EFO:0000332", source="MONDO:equivalentTo"} xref: Orphanet:404507 {source="MONDO:equivalentTo"} @@ -354653,7 +354491,7 @@ id: MONDO:0018448 name: clear cell papillary renal cell carcinoma def: "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." [Orphanet:404511] subset: ordo_histopathological_subtype {source="Orphanet:404511"} -xref: ICD10CM:C64 {source="ORDO:404511/ntbt", source="Orphanet:404511"} +xref: ICD10CM:C64 {source="Orphanet:404511/ntbt", source="Orphanet:404511"} xref: ONCOTREE:CCPRC {source="MONDO:equivalentTo"} xref: Orphanet:404511 {source="MONDO:equivalentTo"} xref: SCTID:734015000 {source="MONDO:equivalentTo"} @@ -354665,7 +354503,7 @@ id: MONDO:0018449 name: acquired cystic disease-associated renal cell carcinoma def: "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." [Orphanet:404514] subset: ordo_disease {source="Orphanet:404514"} -xref: ICD10CM:C64 {source="Orphanet:404514", source="ORDO:404514/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:404514/ntbt", source="Orphanet:404514"} xref: Orphanet:404514 {source="MONDO:equivalentTo"} xref: UMLS:CN226194 {source="MONDO:equivalentTo"} is_a: MONDO:0005086 {source="Orphanet:404514"} ! renal cell carcinoma @@ -354679,7 +354517,7 @@ synonym: "diaphragmatic spinal muscular atrophy type 2" EXACT [Orphanet:404521] synonym: "severe infantile axonal neuropathy with respiratory failure type 2" EXACT [Orphanet:404521] synonym: "SMARD2" EXACT ABBREVIATION [Orphanet:404521] synonym: "X-linked spinal muscular atrophy with respiratory distress" EXACT [Orphanet:404521] -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:404521/attributed", source="ORDO:404521/ntbt", source="Orphanet:404521"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:404521/attributed", source="Orphanet:404521/ntbt", source="Orphanet:404521"} xref: Orphanet:404521 {source="MONDO:equivalentTo"} xref: UMLS:CN226195 {source="MONDO:equivalentTo"} is_a: MONDO:0018451 {source="Orphanet:404521"} ! X-linked distal hereditary motor neuropathy @@ -354693,7 +354531,7 @@ subset: ordo_group_of_disorders {source="Orphanet:404538"} synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked dHMN" EXACT [Orphanet:404538] synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538] -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:404538", source="ORDO:404538/attributed", source="ORDO:404538/ntbt"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:404538/attributed", source="Orphanet:404538/ntbt", source="Orphanet:404538"} xref: Orphanet:404538 {source="MONDO:equivalentTo"} is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:404538"} ! distal hereditary motor neuropathy intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy @@ -354721,10 +354559,10 @@ synonym: "FAMM syndrome" EXACT [NCIT:C27264] synonym: "FAMM-PC syndrome" EXACT [Orphanet:404560] synonym: "FAMMM syndrome" EXACT [Orphanet:404560] synonym: "melanoma-pancreatic cancer syndrome" BROAD [Orphanet:404560] -xref: ICD10CM:D22.9 {source="ORDO:404560/nd", source="ORDO:404560/attributed", source="Orphanet:404560"} +xref: ICD10CM:D22.9 {source="Orphanet:404560", source="Orphanet:404560/nd", source="Orphanet:404560/attributed"} xref: NCIT:C27264 {source="MONDO:equivalentTo"} -xref: OMIM:155600 {source="ORDO:404560/btnt", source="MONDO:superClassOf", source="Orphanet:404560"} -xref: OMIM:606719 {source="ORDO:404560/btnt", source="MONDO:superClassOf", source="Orphanet:404560"} +xref: OMIM:155600 {source="MONDO:superClassOf", source="Orphanet:404560", source="Orphanet:404560/btnt"} +xref: OMIM:606719 {source="MONDO:superClassOf", source="Orphanet:404560", source="Orphanet:404560/btnt"} xref: Orphanet:404560 {source="MONDO:equivalentTo"} xref: UMLS:C0013403 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:404560"} xref: UMLS:C0205747 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:404560"} @@ -354802,11 +354640,11 @@ synonym: "FHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] synonym: "hypocalciuric hypercalcemia" RELATED [OMIMPS:145980] xref: DOID:0060699 {source="MONDO:equivalentTo"} xref: GARD:0010828 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E83.5 {source="Orphanet:405", source="DOID:0060699", source="ORDO:405/attributed", source="ORDO:405/ntbt"} +xref: ICD10CM:E83.5 {source="Orphanet:405/attributed", source="Orphanet:405/ntbt", source="Orphanet:405", source="DOID:0060699"} xref: NCIT:C123262 {source="MONDO:equivalentTo"} -xref: OMIM:145980 {source="Orphanet:405", source="MONDO:superClassOf", source="ORDO:405/btnt"} -xref: OMIM:145981 {source="Orphanet:405", source="MONDO:superClassOf", source="ORDO:405/btnt"} -xref: OMIM:600740 {source="Orphanet:405", source="MONDO:superClassOf", source="ORDO:405/btnt"} +xref: OMIM:145980 {source="Orphanet:405/btnt", source="Orphanet:405", source="MONDO:superClassOf"} +xref: OMIM:145981 {source="Orphanet:405/btnt", source="Orphanet:405", source="MONDO:superClassOf"} +xref: OMIM:600740 {source="Orphanet:405/btnt", source="Orphanet:405", source="MONDO:superClassOf"} xref: OMIMPS:145980 {source="DOID:0060699", source="MONDO:equivalentTo"} xref: Orphanet:405 {source="DOID:0060699", source="MONDO:equivalentTo"} xref: SCTID:237885008 {source="MONDO:equivalentTo"} @@ -354831,12 +354669,12 @@ synonym: "isolated inborn glycerol kinase deficiency" EXACT [] synonym: "nonsyndromic glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic inborn glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] xref: GARD:0002807 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E74.8 {source="ORDO:408/attributed", source="ORDO:408/ntbt", source="Orphanet:408"} -xref: MESH:C538138 {source="ORDO:408/e", source="Orphanet:408"} -xref: OMIM:307030 {source="MONDO:subClassOf", source="ORDO:408/e", source="Orphanet:408"} +xref: ICD10CM:E74.8 {source="Orphanet:408", source="Orphanet:408/attributed", source="Orphanet:408/ntbt"} +xref: MESH:C538138 {source="Orphanet:408", source="Orphanet:408/e"} +xref: OMIM:307030 {source="MONDO:subClassOf", source="Orphanet:408", source="Orphanet:408/e"} xref: Orphanet:408 {source="MONDO:equivalentTo"} xref: UMLS:C0268418 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:408"} -xref: UMLS:C0574108 {source="ORDO:408/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:408"} +xref: UMLS:C0574108 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:408", source="Orphanet:408/e"} is_a: MONDO:0010613 {source="MONDO:Redundant", source="Orphanet:408"} ! inborn glycerol kinase deficiency intersection_of: MONDO:0010613 ! inborn glycerol kinase deficiency intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -354852,12 +354690,12 @@ synonym: "idiopathic recurrent vitreal hemorrhage" RELATED [GARD:0006309] synonym: "idiopathic retinal perivasculitis" EXACT [Orphanet:40923] synonym: "idiopathic retinal vasculitis" EXACT [Orphanet:40923] xref: GARD:0006309 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.0 {source="ORDO:40923/ntbt", source="Orphanet:40923"} -xref: MedDRA:10057429 {source="ORDO:40923/e", source="Orphanet:40923"} -xref: MESH:C538011 {source="MONDO:equivalentTo", source="ORDO:40923/e", source="Orphanet:40923"} +xref: ICD10CM:H35.0 {source="Orphanet:40923/ntbt", source="Orphanet:40923"} +xref: MedDRA:10057429 {source="Orphanet:40923/e", source="Orphanet:40923"} +xref: MESH:C538011 {source="Orphanet:40923/e", source="MONDO:equivalentTo", source="Orphanet:40923"} xref: Orphanet:40923 {source="MONDO:equivalentTo"} xref: SCTID:54122009 {source="MONDO:equivalentTo"} -xref: UMLS:C0271073 {source="MONDO:equivalentTo", source="ORDO:40923/e", source="Orphanet:40923"} +xref: UMLS:C0271073 {source="Orphanet:40923/e", source="MONDO:equivalentTo", source="Orphanet:40923"} is_a: MONDO:0005328 ! eye disorder relationship: disease_has_location UBERON:0000966 ! retina relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare @@ -354867,7 +354705,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6309/eales-di id: MONDO:0018461 name: Angelman syndrome due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:411511"} -xref: ICD10CM:Q93.5 {source="Orphanet:411511", source="ORDO:411511/attributed", source="ORDO:411511/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:411511", source="Orphanet:411511/attributed", source="Orphanet:411511/ntbt"} xref: Orphanet:411511 {source="MONDO:equivalentTo"} xref: UMLS:CN237441 {source="MONDO:equivalentTo"} is_a: MONDO:0007113 {source="Orphanet:411511"} ! Angelman syndrome @@ -354877,7 +354715,7 @@ relationship: has_modifier SO:1000008 ! point_mutation id: MONDO:0018462 name: Angelman syndrome due to imprinting defect in 15q11-q13 subset: ordo_etiological_subtype {source="Orphanet:411515"} -xref: ICD10CM:Q93.5 {source="ORDO:411515/attributed", source="ORDO:411515/ntbt", source="Orphanet:411515"} +xref: ICD10CM:Q93.5 {source="Orphanet:411515", source="Orphanet:411515/attributed", source="Orphanet:411515/ntbt"} xref: Orphanet:411515 {source="MONDO:equivalentTo"} xref: UMLS:CN237442 {source="MONDO:equivalentTo"} is_a: MONDO:0007113 {source="Orphanet:411515"} ! Angelman syndrome @@ -354889,7 +354727,7 @@ def: "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mi subset: ordo_clinical_subtype {source="Orphanet:411536"} synonym: "mild PRPP synthetase superactivity" EXACT [Orphanet:411536] synonym: "mild PRPS1 superactivity" EXACT [Orphanet:411536] -xref: ICD10CM:E79.8 {source="ORDO:411536/attributed", source="ORDO:411536/ntbt", source="Orphanet:411536"} +xref: ICD10CM:E79.8 {source="Orphanet:411536", source="Orphanet:411536/attributed", source="Orphanet:411536/ntbt"} xref: OMIM:300661 {source="MONDO:subClassOf", source="Orphanet:411536"} xref: Orphanet:411536 {source="MONDO:equivalentTo"} xref: UMLS:CN237443 {source="MONDO:equivalentTo"} @@ -354903,7 +354741,7 @@ def: "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the subset: ordo_clinical_subtype {source="Orphanet:411543"} synonym: "severe PRPP synthetase superactivity" EXACT [Orphanet:411543] synonym: "severe PRPS1 superactivity" EXACT [Orphanet:411543] -xref: ICD10CM:E79.8 {source="Orphanet:411543", source="ORDO:411543/attributed", source="ORDO:411543/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:411543/attributed", source="Orphanet:411543/ntbt", source="Orphanet:411543"} xref: OMIM:300661 {source="MONDO:subClassOf", source="Orphanet:411543"} xref: Orphanet:411543 {source="MONDO:equivalentTo"} xref: UMLS:CN237444 {source="MONDO:equivalentTo"} @@ -354920,7 +354758,7 @@ synonym: "Hirata disease" EXACT [Orphanet:411593] synonym: "insulin autoimmune hypoglycemia" RELATED [GARD:0010808] xref: DOID:0040100 {source="MONDO:equivalentTo"} xref: GARD:0010808 {source="MONDO:equivalentTo"} -xref: ICD10CM:E16.1 {source="Orphanet:411593", source="ORDO:411593/ntbt"} +xref: ICD10CM:E16.1 {source="Orphanet:411593/ntbt", source="Orphanet:411593"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:411593 {source="MONDO:equivalentTo"} xref: SCTID:408539000 {source="MONDO:equivalentTo"} @@ -354949,8 +354787,8 @@ synonym: "cystinosis, atypical nephropathic" RELATED [OMIM:219800] synonym: "cystinosis, infantile nephropathic" EXACT [OMIM:219800] synonym: "lysosomal cystine transport protein, defect of" RELATED [OMIM:219800] synonym: "nephropathic infantile cystinosis" EXACT CLINGEN_PREFERRED [] -xref: ICD10EXP:E72.0+ {source="ORDO:411629/attributed", source="ORDO:411629/ntbt", source="Orphanet:411629"} -xref: ICD10EXP:N16.3* {source="ORDO:411629/attributed", source="ORDO:411629/ntbt", source="Orphanet:411629"} +xref: ICD10EXP:E72.0+ {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"} +xref: ICD10EXP:N16.3* {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"} xref: OMIM:219800 {source="MONDO:subclassOf", source="Orphanet:411629"} xref: Orphanet:213 {source="MONDO:subClassOf", source="OMIM:219800"} xref: Orphanet:411629 {source="OMIM:219800", source="MONDO:equivalentTo"} @@ -354959,7 +354797,7 @@ xref: UMLS:C2749685 {source="OMIM:219800", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C2931187 {source="OMIM:219800", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C129932"} xref: UMLS:C3537440 {source="OMIM:219800", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:411629"} is_a: MONDO:0019743 {source="Orphanet:411629"} ! nephropathy secondary to a storage or other metabolic disease -is_a: MONDO:0100151 {source="NCIT:C129932", source="ORDO:213/btnt"} ! nephropathic cystinosis +is_a: MONDO:0100151 {source="NCIT:C129932", source="Orphanet:213/btnt"} ! nephropathic cystinosis intersection_of: MONDO:0100151 ! nephropathic cystinosis intersection_of: has_modifier HP:0003593 ! Infantile onset relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2518 {source="mim2gene_medgen"} ! CTNS @@ -354972,7 +354810,7 @@ subset: ordo_disease {source="Orphanet:411696"} synonym: "PPI-REE" EXACT [Orphanet:411696] synonym: "PPI-responsive esophageal eosinophilia" EXACT [Orphanet:411696] synonym: "PPIRee" EXACT [Orphanet:411696] -xref: ICD10CM:K20 {source="Orphanet:411696", source="ORDO:411696/ntbt"} +xref: ICD10CM:K20 {source="Orphanet:411696", source="Orphanet:411696/ntbt"} xref: Orphanet:411696 {source="MONDO:equivalentTo"} is_a: MONDO:0018438 {source="Orphanet:411696"} ! eosinophilic gastrointestinal disease @@ -354983,7 +354821,7 @@ subset: ordo_disease {source="Orphanet:411703"} synonym: "non-tuberculous mycobacterial lung disease" EXACT [Orphanet:411703] synonym: "nontuberculous mycobacterial lung disease" RELATED [GARD:0012829] xref: GARD:0012829 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:A31.0 {source="ORDO:411703/e", source="Orphanet:411703"} +xref: ICD10CM:A31.0 {source="Orphanet:411703", source="Orphanet:411703/e"} xref: Orphanet:411703 {source="MONDO:equivalentTo"} xref: UMLS:CN237452 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="Orphanet:411703"} ! respiratory system disorder @@ -355011,12 +354849,12 @@ xref: DOID:14766 {source="MONDO:equivalentTo"} xref: GARD:0009228 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0000104 {source="MONDO:otherHierarchy"} xref: HP:0008678 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q60.0 {source="MONDO:superClassOf", source="ORDO:411709/specific", source="ORDO:411709/btnt", source="Orphanet:411709"} -xref: ICD10CM:Q60.1 {source="MONDO:superClassOf", source="ORDO:411709/specific", source="ORDO:411709/btnt", source="Orphanet:411709"} -xref: ICD10CM:Q60.2 {source="ORDO:411709/specific", source="ORDO:411709/btnt", source="Orphanet:411709"} +xref: ICD10CM:Q60.0 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="MONDO:superClassOf", source="Orphanet:411709"} +xref: ICD10CM:Q60.1 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="MONDO:superClassOf", source="Orphanet:411709"} +xref: ICD10CM:Q60.2 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"} xref: NCIT:C99041 {source="MONDO:equivalentTo"} -xref: OMIM:191830 {source="MONDO:superClassOf", source="DOID:14766", source="ORDO:411709/btnt", source="Orphanet:411709"} -xref: OMIM:615721 {source="MONDO:superClassOf", source="ORDO:411709/btnt", source="Orphanet:411709"} +xref: OMIM:191830 {source="Orphanet:411709/btnt", source="MONDO:superClassOf", source="DOID:14766", source="Orphanet:411709"} +xref: OMIM:615721 {source="Orphanet:411709/btnt", source="MONDO:superClassOf", source="Orphanet:411709"} xref: OMIMPS:191830 {source="MONDO:equivalentTo"} xref: Orphanet:411709 {source="OMIM:191830", source="MONDO:equivalentTo"} xref: SCTID:204942005 {source="MONDO:equivalentTo"} @@ -355041,7 +354879,7 @@ subset: ordo_disease {source="Orphanet:411777"} synonym: "GEKA" EXACT ABBREVIATION [Orphanet:411777] synonym: "generalized eruptive keratoacanthomas of Grzybowski" EXACT [Orphanet:411777] synonym: "Grzybowski syndrome" EXACT [Orphanet:411777] -xref: ICD10CM:L85.8 {source="Orphanet:411777", source="ORDO:411777/ntbt"} +xref: ICD10CM:L85.8 {source="Orphanet:411777/ntbt", source="Orphanet:411777"} xref: Orphanet:411777 {source="MONDO:equivalentTo"} xref: SCTID:254664008 {source="MONDO:equivalentTo"} xref: UMLS:C0345985 {source="MONDO:equivalentTo"} @@ -355055,7 +354893,7 @@ name: familial isolated trichomegaly def: "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." [Orphanet:411788] subset: ordo_disease {source="Orphanet:411788"} xref: DOID:0111566 {source="MONDO:equivalentTo"} -xref: OMIM:190330 {source="MONDO:subClassOf", source="Orphanet:411788", source="ORDO:411788/ntbt"} +xref: OMIM:190330 {source="MONDO:subClassOf", source="Orphanet:411788/ntbt", source="Orphanet:411788"} xref: Orphanet:411788 {source="MONDO:equivalentTo"} xref: SCTID:764523004 {source="MONDO:equivalentTo"} is_a: MONDO:0008593 ! trichomegaly @@ -355093,15 +354931,15 @@ synonym: "remnant hyperlipidemia" EXACT [DOID:3145, NCIT:C34710] synonym: "remnant removal disease" RELATED [GARD:0006703] xref: DOID:3145 {source="MONDO:equivalentTo"} xref: GARD:0006703 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E78.2 {source="Orphanet:412", source="ORDO:412/inclusion", source="ORDO:412/ntbt"} -xref: MedDRA:10060751 {source="Orphanet:412", source="ORDO:412/e"} -xref: MESH:D006952 {source="Orphanet:412", source="DOID:3145", source="ORDO:412/e"} +xref: ICD10CM:E78.2 {source="Orphanet:412", source="Orphanet:412/ntbt", source="Orphanet:412/inclusion"} +xref: MedDRA:10060751 {source="Orphanet:412", source="Orphanet:412/e"} +xref: MESH:D006952 {source="Orphanet:412", source="DOID:3145", source="Orphanet:412/e"} xref: NCIT:C34710 {source="DOID:3145", source="MONDO:otherHierarchy"} xref: OMIM:617347 {source="Orphanet:412", source="MONDO:equivalentTo"} xref: Orphanet:412 {source="OMIM:617347", source="MONDO:equivalentTo"} xref: SCTID:398796005 {source="DOID:3145", source="MONDO:equivalentTo"} xref: SCTID:42569002 {source="DOID:3145"} -xref: UMLS:C0020479 {source="OMIM:617347", source="Orphanet:412", source="DOID:3145", source="MONDO:equivalentTo", source="ORDO:412/e"} +xref: UMLS:C0020479 {source="OMIM:617347", source="Orphanet:412", source="DOID:3145", source="MONDO:equivalentTo", source="Orphanet:412/e"} xref: UMLS:C1862561 {source="MONDO:equivalentTo"} xref: UMLS:C1862591 {source="OMIM:617347", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2676098 {source="OMIM:617347", source="MONDO:notFoundInDiseaseSubset"} @@ -355114,7 +354952,7 @@ def: "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized subset: ordo_malformation_syndrome {source="Orphanet:412035"} synonym: "Del(13)(q12.3)" EXACT [Orphanet:412035] synonym: "monosomy 13q12.3" EXACT [Orphanet:412035] -xref: ICD10CM:Q93.5 {source="ORDO:412035/attributed", source="ORDO:412035/ntbt", source="Orphanet:412035"} +xref: ICD10CM:Q93.5 {source="Orphanet:412035/attributed", source="Orphanet:412035/ntbt", source="Orphanet:412035"} xref: Orphanet:412035 {source="MONDO:equivalentTo"} xref: UMLS:CN237459 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:412035"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -355130,7 +354968,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3664 id: MONDO:0018475 name: PRKAR1B-related neurodegenerative dementia with intermediate filaments subset: ordo_disease {source="Orphanet:412066"} -xref: ICD10CM:G31.8 {source="Orphanet:412066", source="ORDO:412066/attributed", source="ORDO:412066/ntbt"} +xref: ICD10CM:G31.8 {source="Orphanet:412066/attributed", source="Orphanet:412066/ntbt", source="Orphanet:412066"} xref: Orphanet:412066 {source="MONDO:equivalentTo"} xref: UMLS:CN237461 {source="MONDO:equivalentTo"} is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:412066", source="Orphanet:412066/inferred"} ! genetic dementia @@ -355140,7 +354978,7 @@ is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:412066", source= id: MONDO:0018476 name: dystonia-aphonia syndrome subset: ordo_disease {source="Orphanet:412217"} -xref: ICD10CM:G24.8 {source="Orphanet:412217", source="ORDO:412217/attributed", source="ORDO:412217/ntbt"} +xref: ICD10CM:G24.8 {source="Orphanet:412217/attributed", source="Orphanet:412217/ntbt", source="Orphanet:412217"} xref: Orphanet:412217 {source="MONDO:equivalentTo"} xref: UMLS:CN237465 {source="MONDO:equivalentTo"} is_a: MONDO:0018329 {source="Orphanet:412217"} ! persistent combined dystonia @@ -355157,7 +354995,7 @@ xref: DOID:2382 {source="EFO:1001002", source="MONDO:equivalentTo"} xref: EFO:1001002 {source="MONDO:equivalentTo"} xref: GARD:0006830 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:P57 {source="EFO:1001002", source="DOID:2382"} -xref: ICD10CM:P57.9 {source="ORDO:415286/ntbt", source="Orphanet:415286", source="DOID:2382"} +xref: ICD10CM:P57.9 {source="Orphanet:415286/ntbt", source="Orphanet:415286", source="DOID:2382"} xref: MedDRA:10023376 {source="EFO:1001002"} xref: MESH:D007647 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"} xref: NCIT:C84799 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"} @@ -355197,25 +355035,25 @@ synonym: "lipoid CAH" EXACT [DOID:0050811] xref: DOID:0050811 {source="MONDO:equivalentTo"} xref: GARD:0001467 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:E25 {source="DOID:0050811"} -xref: ICD10CM:E25.0 {source="ORDO:418/specific", source="ORDO:418/e", source="Orphanet:418"} +xref: ICD10CM:E25.0 {source="Orphanet:418", source="Orphanet:418/specific", source="Orphanet:418/e"} xref: ICD10CM:E25.9 {source="DOID:0050811"} xref: ICD9:255.2 {source="DOID:0050811"} -xref: MedDRA:10010323 {source="ORDO:418/e", source="Orphanet:418"} -xref: MESH:D000312 {source="ORDO:418/e", source="MONDO:equivalentTo", source="Orphanet:418"} +xref: MedDRA:10010323 {source="Orphanet:418", source="Orphanet:418/e"} +xref: MESH:D000312 {source="MONDO:equivalentTo", source="Orphanet:418", source="Orphanet:418/e"} xref: NCIT:C34360 {source="MONDO:equivalentTo"} -xref: OMIM:201710 {source="ORDO:418/btnt", source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811"} -xref: OMIM:201810 {source="ORDO:418/btnt", source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811"} -xref: OMIM:201910 {source="ORDO:418/btnt", source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811"} -xref: OMIM:202010 {source="ORDO:418/btnt", source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811"} -xref: OMIM:202110 {source="ORDO:418/btnt", source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811"} -xref: OMIM:613571 {source="ORDO:418/btnt", source="Orphanet:418", source="MONDO:superClassOf"} +xref: OMIM:201710 {source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811", source="Orphanet:418/btnt"} +xref: OMIM:201810 {source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811", source="Orphanet:418/btnt"} +xref: OMIM:201910 {source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811", source="Orphanet:418/btnt"} +xref: OMIM:202010 {source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811", source="Orphanet:418/btnt"} +xref: OMIM:202110 {source="Orphanet:418", source="MONDO:superClassOf", source="DOID:0050811", source="Orphanet:418/btnt"} +xref: OMIM:613571 {source="Orphanet:418", source="MONDO:superClassOf", source="Orphanet:418/btnt"} xref: Orphanet:418 {source="MONDO:equivalentTo", source="DOID:0050811"} xref: SCTID:154706003 {source="DOID:0050811"} xref: SCTID:190510000 {source="DOID:0050811"} xref: SCTID:190519004 {source="DOID:0050811"} xref: SCTID:237751000 {source="MONDO:equivalentTo"} xref: SCTID:267395000 {source="DOID:0050811"} -xref: UMLS:C0001627 {source="NCIT:C34360", source="ORDO:418/e", source="MONDO:equivalentTo", source="Orphanet:418"} +xref: UMLS:C0001627 {source="NCIT:C34360", source="MONDO:equivalentTo", source="Orphanet:418", source="Orphanet:418/e"} xref: UMLS:C0701163 {source="MONDO:equivalentTo", source="DOID:0050811"} is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder is_a: MONDO:0005523 {source="DOID:0050811", source="MESH:D000312"} ! steroid inherited metabolic disorder @@ -355228,10 +355066,10 @@ id: MONDO:0018480 name: carcinoma of esophagus, salivary gland type subset: ordo_disease {source="Orphanet:418945"} synonym: "esophageal carcinoma, salivary gland type" EXACT [Orphanet:418945] -xref: ICD10CM:C15.3 {source="Orphanet:418945", source="ORDO:418945/nd"} -xref: ICD10CM:C15.4 {source="Orphanet:418945", source="ORDO:418945/nd"} -xref: ICD10CM:C15.5 {source="Orphanet:418945", source="ORDO:418945/nd"} -xref: ICD10CM:C15.8 {source="Orphanet:418945", source="ORDO:418945/nd"} +xref: ICD10CM:C15.3 {source="Orphanet:418945", source="Orphanet:418945/nd"} +xref: ICD10CM:C15.4 {source="Orphanet:418945", source="Orphanet:418945/nd"} +xref: ICD10CM:C15.5 {source="Orphanet:418945", source="Orphanet:418945/nd"} +xref: ICD10CM:C15.8 {source="Orphanet:418945", source="Orphanet:418945/nd"} xref: Orphanet:418945 {source="MONDO:equivalentTo"} xref: UMLS:CN237468 {source="MONDO:equivalentTo"} is_a: MONDO:0019086 {source="Orphanet:418945"} ! carcinoma of esophagus @@ -355245,10 +355083,10 @@ synonym: "esophageal undifferentiated carcinoma" EXACT [NCIT:C27422] synonym: "esophagus undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "undifferentiated esophageal cancer" EXACT [NCIT:C27422] synonym: "undifferentiated esophageal carcinoma" EXACT [Orphanet:418951] -xref: ICD10CM:C15.3 {source="Orphanet:418951", source="ORDO:418951/nd"} -xref: ICD10CM:C15.4 {source="Orphanet:418951", source="ORDO:418951/nd"} -xref: ICD10CM:C15.5 {source="Orphanet:418951", source="ORDO:418951/nd"} -xref: ICD10CM:C15.8 {source="Orphanet:418951", source="ORDO:418951/nd"} +xref: ICD10CM:C15.3 {source="Orphanet:418951/nd", source="Orphanet:418951"} +xref: ICD10CM:C15.4 {source="Orphanet:418951/nd", source="Orphanet:418951"} +xref: ICD10CM:C15.5 {source="Orphanet:418951/nd", source="Orphanet:418951"} +xref: ICD10CM:C15.8 {source="Orphanet:418951/nd", source="Orphanet:418951"} xref: NCIT:C27422 {source="MONDO:equivalentTo"} xref: Orphanet:418951 {source="MONDO:equivalentTo"} xref: UMLS:C2188058 {source="NCIT:C27422", source="MONDO:equivalentTo"} @@ -355273,7 +355111,7 @@ comment: Editor note: TODO DP for secondary diseases subset: ordo_disease {source="Orphanet:420259"} synonym: "secondary PAP" EXACT [Orphanet:420259] synonym: "SPAP" EXACT ABBREVIATION [PMID:19465834] -xref: ICD10CM:J84.0 {source="ORDO:420259/ntbt", source="Orphanet:420259"} +xref: ICD10CM:J84.0 {source="Orphanet:420259", source="Orphanet:420259/ntbt"} xref: Orphanet:420259 {source="MONDO:equivalentTo"} xref: SCTID:707510005 {source="MONDO:equivalentTo"} xref: UMLS:C3873302 {source="MONDO:equivalentTo"} @@ -355296,7 +355134,7 @@ synonym: "superior semicircular canal dehiscence syndrome" EXACT [DOID:0080193] synonym: "third mobile window syndrome" EXACT [DOID:0080193] xref: DOID:0080193 {source="MONDO:equivalentTo"} xref: GARD:0010993 {source="MONDO:equivalentTo"} -xref: ICD10CM:H83.8 {source="ORDO:420402/ntbt", source="Orphanet:420402", source="DOID:0080193"} +xref: ICD10CM:H83.8 {source="Orphanet:420402", source="Orphanet:420402/ntbt", source="DOID:0080193"} xref: Orphanet:420402 {source="MONDO:equivalentTo"} xref: SCTID:717799003 {source="MONDO:equivalentTo"} is_a: MONDO:0024623 {source="Orphanet:420402"} ! otorhinolaryngologic disease @@ -355325,7 +355163,7 @@ synonym: "GSD type II, late onset" EXACT [Orphanet:420429] synonym: "GSD type II, late-onset" EXACT [Orphanet:420429] synonym: "Pompe disease, late onset" EXACT [Orphanet:420429] synonym: "Pompe disease, late-onset" EXACT [Orphanet:420429] -xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="ORDO:420429/attributed", source="ORDO:420429/ntbt", source="Orphanet:420429"} +xref: ICD10CM:E74.0 {source="MONDO:subClassOf", source="Orphanet:420429", source="Orphanet:420429/attributed", source="Orphanet:420429/ntbt"} xref: Orphanet:420429 {source="MONDO:equivalentTo"} xref: SCTID:722343009 {source="MONDO:equivalentTo"} xref: UMLS:C0342753 {source="MONDO:equivalentTo"} @@ -355340,7 +355178,7 @@ subset: gard_rare {source="GARD:0012062"} subset: ordo_disease {source="Orphanet:420556"} synonym: "visual snow" RELATED [GARD:0012062] xref: GARD:0012062 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.8 {source="ORDO:420556/ntbt", source="Orphanet:420556"} +xref: ICD10CM:H53.8 {source="Orphanet:420556", source="Orphanet:420556/ntbt"} xref: Orphanet:420556 {source="MONDO:equivalentTo"} xref: UMLS:CN237477 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder @@ -355351,7 +355189,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12062/visual- id: MONDO:0018487 name: autosomal recessive severe congenital neutropenia due to CXCR2 deficiency subset: ordo_disease {source="Orphanet:420699"} -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="ORDO:420699/attributed", source="ORDO:420699/ntbt", source="Orphanet:420699"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:420699", source="Orphanet:420699/attributed", source="Orphanet:420699/ntbt"} xref: Orphanet:420699 {source="MONDO:equivalentTo"} is_a: MONDO:0018542 {source="Orphanet:420699", source="Orphanet:420699/inferred"} ! severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia @@ -355380,7 +355218,7 @@ def: "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a subset: ordo_disease {source="Orphanet:420789"} synonym: "anti-IgLON5 disease" EXACT [Orphanet:420789] synonym: "anti-IgLON5 syndrome" EXACT [Orphanet:420789] -xref: ICD10CM:G04.8 {source="ORDO:420789/ntbt", source="Orphanet:420789"} +xref: ICD10CM:G04.8 {source="Orphanet:420789", source="Orphanet:420789/ntbt"} xref: Orphanet:420789 {source="MONDO:equivalentTo"} xref: SCTID:765751002 {source="MONDO:equivalentTo"} xref: UMLS:CN237490 {source="MONDO:equivalentTo"} @@ -355397,7 +355235,7 @@ name: cono-spondylar dysplasia def: "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." [Orphanet:420794] subset: ordo_malformation_syndrome {source="Orphanet:420794"} synonym: "short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome" EXACT [Orphanet:420794] -xref: ICD10CM:Q77.7 {source="Orphanet:420794", source="ORDO:420794/attributed", source="ORDO:420794/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:420794/attributed", source="Orphanet:420794/ntbt", source="Orphanet:420794"} xref: Orphanet:420794 {source="MONDO:equivalentTo"} xref: SCTID:766874001 {source="MONDO:equivalentTo"} xref: UMLS:CN237491 {source="MONDO:equivalentTo"} @@ -355429,9 +355267,9 @@ synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260] synonym: "hereditary conventional (clear cell) renal cell carcinoma" EXACT [NCIT:C36260] synonym: "hereditary conventional renal cell carcinoma" RELATED [DOID:7192] xref: DOID:7192 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="ORDO:422526/attributed", source="ORDO:422526/ntbt", source="Orphanet:422526"} +xref: ICD10CM:C64 {source="Orphanet:422526", source="Orphanet:422526/attributed", source="Orphanet:422526/ntbt"} xref: NCIT:C36260 {source="MONDO:equivalentTo", source="DOID:7192", source="exact-label-match"} -xref: OMIM:144700 {source="MONDO:subClassOf", source="ORDO:422526/ntbt", source="Orphanet:422526"} +xref: OMIM:144700 {source="MONDO:subClassOf", source="Orphanet:422526", source="Orphanet:422526/ntbt"} xref: Orphanet:422526 {source="MONDO:equivalentTo"} xref: SCTID:764961009 {source="MONDO:equivalentTo"} xref: UMLS:C1333985 {source="DOID:7192", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C36260"} @@ -355458,17 +355296,17 @@ synonym: "malignant hyperthermia of anesthesia" EXACT CLINGEN_PREFERRED [] synonym: "malignant hyperthermia syndrome" EXACT [NCIT:C84869] xref: DOID:8545 {source="MONDO:equivalentTo"} xref: HP:0002047 {source="MONDO:otherHierarchy"} -xref: ICD10CM:T88.3 {source="DOID:8545", source="Orphanet:423", source="ORDO:423/specific", source="ORDO:423/e"} +xref: ICD10CM:T88.3 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/e", source="Orphanet:423/specific"} xref: ICD9:995.86 {source="DOID:8545"} -xref: MedDRA:10020844 {source="Orphanet:423", source="ORDO:423/e"} -xref: MESH:D008305 {source="DOID:8545", source="Orphanet:423", source="MONDO:equivalentTo", source="ORDO:423/e"} +xref: MedDRA:10020844 {source="Orphanet:423", source="Orphanet:423/e"} +xref: MESH:D008305 {source="DOID:8545", source="Orphanet:423", source="MONDO:equivalentTo", source="Orphanet:423/e"} xref: NCIT:C84869 {source="DOID:8545", source="MONDO:equivalentTo"} -xref: OMIM:145600 {source="DOID:8545", source="Orphanet:423", source="MONDO:superClassOf", source="ORDO:423/e"} -xref: OMIM:154275 {source="DOID:8545", source="Orphanet:423", source="MONDO:superClassOf", source="ORDO:423/btnt"} -xref: OMIM:154276 {source="DOID:8545", source="Orphanet:423", source="MONDO:superClassOf", source="ORDO:423/btnt"} -xref: OMIM:600467 {source="DOID:8545", source="Orphanet:423", source="MONDO:superClassOf", source="ORDO:423/btnt"} -xref: OMIM:601887 {source="DOID:8545", source="Orphanet:423", source="MONDO:superClassOf", source="ORDO:423/btnt"} -xref: OMIM:601888 {source="DOID:8545", source="Orphanet:423", source="MONDO:superClassOf", source="ORDO:423/btnt"} +xref: OMIM:145600 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/e", source="MONDO:superClassOf"} +xref: OMIM:154275 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/btnt", source="MONDO:superClassOf"} +xref: OMIM:154276 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/btnt", source="MONDO:superClassOf"} +xref: OMIM:600467 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/btnt", source="MONDO:superClassOf"} +xref: OMIM:601887 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/btnt", source="MONDO:superClassOf"} +xref: OMIM:601888 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/btnt", source="MONDO:superClassOf"} xref: OMIMPS:145600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:423 {source="DOID:8545", source="MONDO:equivalentTo"} xref: SCTID:111738008 {source="DOID:8545"} @@ -355478,7 +355316,7 @@ xref: SCTID:248453001 {source="DOID:8545"} xref: SCTID:269435009 {source="DOID:8545"} xref: SCTID:405500008 {source="DOID:8545"} xref: SCTID:405501007 {source="DOID:8545", source="MONDO:equivalentTo"} -xref: UMLS:C0024591 {source="DOID:8545", source="Orphanet:423", source="NCIT:C84869", source="MONDO:equivalentTo", source="ORDO:423/e"} +xref: UMLS:C0024591 {source="DOID:8545", source="Orphanet:423", source="NCIT:C84869", source="MONDO:equivalentTo", source="Orphanet:423/e"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder is_a: MONDO:0019119 {source="Orphanet:423"} ! muscular channelopathy relationship: disease_has_major_feature HP:0002047 ! Malignant hyperthermia @@ -355490,7 +355328,7 @@ id: MONDO:0018494 name: microcephaly-short stature-intellectual disability-facial dysmorphism syndrome def: "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." [Orphanet:423306] subset: ordo_malformation_syndrome {source="Orphanet:423306"} -xref: ICD10CM:Q87.1 {source="ORDO:423306/attributed", source="ORDO:423306/ntbt", source="Orphanet:423306"} +xref: ICD10CM:Q87.1 {source="Orphanet:423306", source="Orphanet:423306/attributed", source="Orphanet:423306/ntbt"} xref: Orphanet:423306 {source="MONDO:equivalentTo"} xref: UMLS:CN237496 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:423306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -355500,7 +355338,7 @@ id: MONDO:0018495 name: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome def: "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." [Orphanet:423479] subset: ordo_disease {source="Orphanet:423479"} -xref: ICD10CM:E79.8 {source="Orphanet:423479", source="ORDO:423479/attributed", source="ORDO:423479/ntbt"} +xref: ICD10CM:E79.8 {source="Orphanet:423479", source="Orphanet:423479/attributed", source="Orphanet:423479/ntbt"} xref: Orphanet:423479 {source="MONDO:equivalentTo"} xref: UMLS:CN237501 {source="MONDO:equivalentTo"} is_a: MONDO:0019058 {source="Orphanet:423479", source="indirect"} ! neurometabolic disease @@ -355538,7 +355376,7 @@ id: MONDO:0018498 name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect subset: ordo_clinical_subtype {source="Orphanet:423693"} synonym: "DORV with subaortic or doubly committed VSD" EXACT [Orphanet:423693] -xref: ICD10CM:Q20.1 {source="Orphanet:423693", source="ORDO:423693/attributed", source="ORDO:423693/ntbt"} +xref: ICD10CM:Q20.1 {source="Orphanet:423693/attributed", source="Orphanet:423693/ntbt", source="Orphanet:423693"} xref: Orphanet:423693 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:423693"} ! double outlet right ventricle @@ -355547,7 +355385,7 @@ id: MONDO:0018499 name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy subset: ordo_clinical_subtype {source="Orphanet:423712"} synonym: "DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy" EXACT [Orphanet:423712] -xref: ICD10CM:Q24.8 {source="Orphanet:423712", source="ORDO:423712/attributed", source="ORDO:423712/ntbt"} +xref: ICD10CM:Q24.8 {source="Orphanet:423712/attributed", source="Orphanet:423712/ntbt", source="Orphanet:423712"} xref: Orphanet:423712 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:423712"} ! double outlet right ventricle @@ -355562,7 +355400,7 @@ synonym: "creeping eruption" RELATED [GARD:0001629] synonym: "dew itch" RELATED [GARD:0001629] synonym: "ground itch" RELATED [GARD:0001629] xref: GARD:0001629 {source="MONDO:equivalentTo"} -xref: ICD10CM:B76.9 {source="ORDO:423717/ntbt", source="Orphanet:423717"} +xref: ICD10CM:B76.9 {source="Orphanet:423717/ntbt", source="Orphanet:423717"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D007815 {source="MONDO:equivalentTo"} xref: Orphanet:423717 {source="MONDO:equivalentTo"} @@ -355606,14 +355444,14 @@ id: MONDO:0018503 name: carcinoma of stomach, salivary gland type subset: ordo_disease {source="Orphanet:423781"} synonym: "gastric carcinoma, salivary gland type" EXACT [Orphanet:423781] -xref: ICD10CM:C16.0 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.1 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.2 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.3 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.4 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.5 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.6 {source="ORDO:423781/nd", source="Orphanet:423781"} -xref: ICD10CM:C16.8 {source="ORDO:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.0 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.1 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.2 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.3 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.4 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.5 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.6 {source="Orphanet:423781/nd", source="Orphanet:423781"} +xref: ICD10CM:C16.8 {source="Orphanet:423781/nd", source="Orphanet:423781"} xref: Orphanet:423781 {source="MONDO:equivalentTo"} xref: UMLS:CN237508 {source="MONDO:equivalentTo"} is_a: MONDO:0004950 {source="Orphanet:423781"} ! gastric carcinoma @@ -355634,14 +355472,14 @@ synonym: "undifferentiated carcinoma of the stomach" EXACT [NCIT:C5476] synonym: "undifferentiated gastric (stomach) cancer" EXACT [NCIT:C5476] synonym: "undifferentiated gastric carcinoma" EXACT [NCIT:C5476, Orphanet:423786] synonym: "undifferentiated stomach adenocarcinoma" RELATED [ONCOTREE:USTAD] -xref: ICD10CM:C16.0 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.1 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.2 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.3 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.4 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.5 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.6 {source="Orphanet:423786", source="ORDO:423786/nd"} -xref: ICD10CM:C16.8 {source="Orphanet:423786", source="ORDO:423786/nd"} +xref: ICD10CM:C16.0 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.1 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.2 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.3 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.4 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.5 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.6 {source="Orphanet:423786/nd", source="Orphanet:423786"} +xref: ICD10CM:C16.8 {source="Orphanet:423786/nd", source="Orphanet:423786"} xref: NCIT:C5476 {source="DesignPattern", source="MONDO:equivalentTo"} xref: ONCOTREE:USTAD {source="MONDO:equivalentTo"} xref: Orphanet:423786 {source="MONDO:equivalentTo"} @@ -355685,7 +355523,7 @@ id: MONDO:0018507 name: microcephaly-complex motor and sensory axonal neuropathy syndrome def: "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." [Orphanet:423894] subset: ordo_disease {source="Orphanet:423894"} -xref: ICD10CM:G60.0 {source="Orphanet:423894", source="ORDO:423894/attributed", source="ORDO:423894/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:423894", source="Orphanet:423894/attributed", source="Orphanet:423894/ntbt"} xref: Orphanet:423894 {source="MONDO:equivalentTo"} xref: UMLS:CN237512 {source="MONDO:equivalentTo"} is_a: MONDO:0019601 {source="Orphanet:423894"} ! autosomal recessive axonal hereditary motor and sensory neuropathy @@ -355714,11 +355552,11 @@ synonym: "small intestinal squamous cell cancer" EXACT [NCIT:C43534] synonym: "small intestinal squamous cell carcinoma" EXACT [NCIT:C43534] synonym: "small intestine squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of the small bowel" EXACT [Orphanet:423968] -xref: ICD10CM:C17.0 {source="ORDO:423968/nd", source="Orphanet:423968"} -xref: ICD10CM:C17.1 {source="ORDO:423968/nd", source="Orphanet:423968"} -xref: ICD10CM:C17.2 {source="ORDO:423968/nd", source="Orphanet:423968"} -xref: ICD10CM:C17.3 {source="ORDO:423968/nd", source="Orphanet:423968"} -xref: ICD10CM:C17.8 {source="ORDO:423968/nd", source="Orphanet:423968"} +xref: ICD10CM:C17.0 {source="Orphanet:423968", source="Orphanet:423968/nd"} +xref: ICD10CM:C17.1 {source="Orphanet:423968", source="Orphanet:423968/nd"} +xref: ICD10CM:C17.2 {source="Orphanet:423968", source="Orphanet:423968/nd"} +xref: ICD10CM:C17.3 {source="Orphanet:423968", source="Orphanet:423968/nd"} +xref: ICD10CM:C17.8 {source="Orphanet:423968", source="Orphanet:423968/nd"} xref: NCIT:C43534 {source="MONDO:equivalentTo"} xref: Orphanet:423968 {source="MONDO:equivalentTo"} xref: UMLS:C1710111 {source="MONDO:equivalentTo", source="NCIT:C43534"} @@ -355801,15 +355639,15 @@ synonym: "squamous cell carcinoma of colon" EXACT [DOID:5519, NCIT:C5490] synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490] synonym: "squamous cell colon carcinoma" EXACT [NCIT:C5490] xref: DOID:5519 {source="MONDO:equivalentTo"} -xref: ICD10CM:C18.0 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.2 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.3 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.4 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.5 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.6 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.7 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.8 {source="Orphanet:423994", source="ORDO:423994/nd"} -xref: ICD10CM:C18.9 {source="Orphanet:423994", source="ORDO:423994/nd"} +xref: ICD10CM:C18.0 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.2 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.3 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.4 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.5 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.6 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.7 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.8 {source="Orphanet:423994", source="Orphanet:423994/nd"} +xref: ICD10CM:C18.9 {source="Orphanet:423994", source="Orphanet:423994/nd"} xref: NCIT:C5490 {source="MONDO:equivalentTo", source="DOID:5519"} xref: Orphanet:423994 {source="MONDO:equivalentTo"} xref: SCTID:766981007 {source="MONDO:equivalentTo"} @@ -355851,7 +355689,7 @@ synonym: "squamous carcinoma of the rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of the rectum" EXACT [DOID:5528, NCIT:C5554] xref: DOID:5528 {source="MONDO:equivalentTo"} -xref: ICD10CM:C20 {source="ORDO:424002/ntbt", source="Orphanet:424002"} +xref: ICD10CM:C20 {source="Orphanet:424002/ntbt", source="Orphanet:424002"} xref: NCIT:C5554 {source="MONDO:equivalentTo", source="DOID:5528"} xref: Orphanet:424002 {source="MONDO:equivalentTo"} xref: SCTID:766979005 {source="MONDO:equivalentTo"} @@ -355919,11 +355757,11 @@ synonym: "pancreas squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic squamous cell carcinoma" EXACT [Orphanet:424039] synonym: "squamous cell carcinoma of the pancreas" RELATED [Orphanet:424039] xref: DOID:0080323 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.0 {source="Orphanet:424039", source="ORDO:424039/nd"} -xref: ICD10CM:C25.1 {source="Orphanet:424039", source="ORDO:424039/nd"} -xref: ICD10CM:C25.2 {source="Orphanet:424039", source="ORDO:424039/nd"} -xref: ICD10CM:C25.7 {source="Orphanet:424039", source="ORDO:424039/nd"} -xref: ICD10CM:C25.8 {source="Orphanet:424039", source="ORDO:424039/nd"} +xref: ICD10CM:C25.0 {source="Orphanet:424039/nd", source="Orphanet:424039"} +xref: ICD10CM:C25.1 {source="Orphanet:424039/nd", source="Orphanet:424039"} +xref: ICD10CM:C25.2 {source="Orphanet:424039/nd", source="Orphanet:424039"} +xref: ICD10CM:C25.7 {source="Orphanet:424039/nd", source="Orphanet:424039"} +xref: ICD10CM:C25.8 {source="Orphanet:424039/nd", source="Orphanet:424039"} xref: Orphanet:424039 {source="MONDO:equivalentTo"} xref: UMLS:C2675993 {source="MONDO:equivalentTo"} xref: UMLS:CN237524 {source="MONDO:equivalentTo"} @@ -355958,11 +355796,11 @@ synonym: "pancreatic mucinous cystadenoma" EXACT [MONDO:0004157, NCIT:C5718] synonym: "pancreatic mucinous cystic neoplasm" RELATED [DOID:7235] xref: DOID:7235 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:7735 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.0 {source="ORDO:424053/nd", source="Orphanet:424053"} -xref: ICD10CM:C25.1 {source="ORDO:424053/nd", source="Orphanet:424053"} -xref: ICD10CM:C25.2 {source="ORDO:424053/nd", source="Orphanet:424053"} -xref: ICD10CM:C25.7 {source="ORDO:424053/nd", source="Orphanet:424053"} -xref: ICD10CM:C25.8 {source="ORDO:424053/nd", source="Orphanet:424053"} +xref: ICD10CM:C25.0 {source="Orphanet:424053/nd", source="Orphanet:424053"} +xref: ICD10CM:C25.1 {source="Orphanet:424053/nd", source="Orphanet:424053"} +xref: ICD10CM:C25.2 {source="Orphanet:424053/nd", source="Orphanet:424053"} +xref: ICD10CM:C25.7 {source="Orphanet:424053/nd", source="Orphanet:424053"} +xref: ICD10CM:C25.8 {source="Orphanet:424053/nd", source="Orphanet:424053"} xref: NCIT:C41247 {source="DOID:7235"} xref: NCIT:C5718 {source="DesignPattern", source="DOID:7735", source="MONDO:equivalentTo"} xref: Orphanet:424053 {source="MONDO:equivalentTo"} @@ -355992,11 +355830,11 @@ synonym: "solid pseudopapillary carcinoma of the pancreas" EXACT [NCIT:C5728] synonym: "solid pseudopapillary neoplasm of the pancreas" EXACT [Orphanet:424065] xref: DOID:6827 {source="MONDO:equivalentTo"} xref: EFO:1000542 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.0 {source="Orphanet:424065", source="ORDO:424065/nd"} -xref: ICD10CM:C25.1 {source="Orphanet:424065", source="ORDO:424065/nd"} -xref: ICD10CM:C25.2 {source="Orphanet:424065", source="ORDO:424065/nd"} -xref: ICD10CM:C25.7 {source="Orphanet:424065", source="ORDO:424065/nd"} -xref: ICD10CM:C25.8 {source="Orphanet:424065", source="ORDO:424065/nd"} +xref: ICD10CM:C25.0 {source="Orphanet:424065/nd", source="Orphanet:424065"} +xref: ICD10CM:C25.1 {source="Orphanet:424065/nd", source="Orphanet:424065"} +xref: ICD10CM:C25.2 {source="Orphanet:424065/nd", source="Orphanet:424065"} +xref: ICD10CM:C25.7 {source="Orphanet:424065/nd", source="Orphanet:424065"} +xref: ICD10CM:C25.8 {source="Orphanet:424065/nd", source="Orphanet:424065"} xref: ICDO:8452/3 {source="NCIT:C5728"} xref: NCIT:C5728 {source="MONDO:equivalentTo", source="DOID:6827"} xref: Orphanet:424065 {source="MONDO:equivalentTo"} @@ -356019,11 +355857,11 @@ synonym: "OGCT of pancreas" EXACT [Orphanet:424080] synonym: "pancreatic osteoclastic giant cell tumor" EXACT [Orphanet:424080] synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [Orphanet:424080] synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cells" EXACT [Orphanet:424080] -xref: ICD10CM:C25.0 {source="Orphanet:424080", source="ORDO:424080/nd"} -xref: ICD10CM:C25.1 {source="Orphanet:424080", source="ORDO:424080/nd"} -xref: ICD10CM:C25.2 {source="Orphanet:424080", source="ORDO:424080/nd"} -xref: ICD10CM:C25.7 {source="Orphanet:424080", source="ORDO:424080/nd"} -xref: ICD10CM:C25.8 {source="Orphanet:424080", source="ORDO:424080/nd"} +xref: ICD10CM:C25.0 {source="Orphanet:424080", source="Orphanet:424080/nd"} +xref: ICD10CM:C25.1 {source="Orphanet:424080", source="Orphanet:424080/nd"} +xref: ICD10CM:C25.2 {source="Orphanet:424080", source="Orphanet:424080/nd"} +xref: ICD10CM:C25.7 {source="Orphanet:424080", source="Orphanet:424080/nd"} +xref: ICD10CM:C25.8 {source="Orphanet:424080", source="Orphanet:424080/nd"} xref: Orphanet:424080 {source="MONDO:equivalentTo"} xref: UMLS:CN237530 {source="MONDO:equivalentTo"} is_a: MONDO:0005192 {source="Orphanet:424080"} ! exocrine pancreatic carcinoma @@ -356035,7 +355873,7 @@ name: congenital myopathy with myasthenic-like onset def: "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." [Orphanet:424107] subset: ordo_disease {source="Orphanet:424107"} synonym: "congenital myopathy with myasthenic-like onset" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:G71.2 {source="Orphanet:424107", source="ORDO:424107/attributed", source="ORDO:424107/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:424107/attributed", source="Orphanet:424107/ntbt", source="Orphanet:424107"} xref: Orphanet:424107 {source="MONDO:equivalentTo"} xref: SCTID:763315005 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:424107"} ! congenital myopathy @@ -356107,8 +355945,8 @@ subset: ordo_disease {source="Orphanet:424943"} synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943] -xref: ICD10CM:C22.0 {source="Orphanet:424943", source="ORDO:424943/nd"} -xref: ICD10CM:C22.1 {source="Orphanet:424943", source="ORDO:424943/nd"} +xref: ICD10CM:C22.0 {source="Orphanet:424943", source="Orphanet:424943/nd"} +xref: ICD10CM:C22.1 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: Orphanet:424943 {source="MONDO:equivalentTo"} xref: UMLS:CN242181 {source="MONDO:equivalentTo"} is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424943"} ! carcinoma of liver and intrahepatic biliary tract @@ -356121,9 +355959,9 @@ name: undifferentiated carcinoma of liver and intrahepatic biliary tract def: "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." [Orphanet:424970] subset: ordo_disease {source="Orphanet:424970"} synonym: "undifferentiated carcinoma of liver and IBT" EXACT [Orphanet:424970] -xref: ICD10CM:C22.0 {source="ORDO:424970/nd", source="Orphanet:424970"} -xref: ICD10CM:C22.1 {source="ORDO:424970/nd", source="Orphanet:424970"} -xref: ICD10CM:C22.7 {source="ORDO:424970/nd", source="Orphanet:424970"} +xref: ICD10CM:C22.0 {source="Orphanet:424970/nd", source="Orphanet:424970"} +xref: ICD10CM:C22.1 {source="Orphanet:424970/nd", source="Orphanet:424970"} +xref: ICD10CM:C22.7 {source="Orphanet:424970/nd", source="Orphanet:424970"} xref: Orphanet:424970 {source="MONDO:equivalentTo"} xref: UMLS:CN242153 {source="MONDO:equivalentTo"} is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424970"} ! carcinoma of liver and intrahepatic biliary tract @@ -356136,8 +355974,8 @@ name: squamous cell carcinoma of liver and intrahepatic biliary tract def: "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." [Orphanet:424975] subset: ordo_disease {source="Orphanet:424975"} synonym: "squamous cell carcinoma of liver and IBT" EXACT [Orphanet:424975] -xref: ICD10CM:C22.0 {source="Orphanet:424975", source="ORDO:424975/nd"} -xref: ICD10CM:C22.1 {source="Orphanet:424975", source="ORDO:424975/nd"} +xref: ICD10CM:C22.0 {source="Orphanet:424975/nd", source="Orphanet:424975"} +xref: ICD10CM:C22.1 {source="Orphanet:424975/nd", source="Orphanet:424975"} xref: Orphanet:424975 {source="MONDO:equivalentTo"} xref: UMLS:CN242131 {source="MONDO:equivalentTo"} is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424975"} ! carcinoma of liver and intrahepatic biliary tract @@ -356150,7 +355988,7 @@ name: biliary cystadenocarcinoma def: "A cystadenocarcinoma that involves the biliary tree." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:424982"} synonym: "intrahepatic bile duct cystadenocarcinoma" EXACT [Orphanet:424982] -xref: ICD10CM:C22.1 {source="ORDO:424982/ntbt", source="Orphanet:424982"} +xref: ICD10CM:C22.1 {source="Orphanet:424982/ntbt", source="Orphanet:424982"} xref: Orphanet:424982 {source="MONDO:equivalentTo"} xref: UMLS:C2064409 {source="MONDO:equivalentTo"} is_a: MONDO:0018531 {source="MONDO:Redundant", source="Orphanet:424982", source="indirect"} ! carcinoma of liver and intrahepatic biliary tract @@ -356165,10 +356003,10 @@ subset: ordo_disease {source="Orphanet:424991"} synonym: "adenocarcinoma of gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and extrahepatic biliary tract" EXACT [Orphanet:424991] -xref: ICD10CM:C23 {source="ORDO:424991/nd", source="Orphanet:424991"} -xref: ICD10CM:C24.0 {source="ORDO:424991/nd", source="Orphanet:424991"} -xref: ICD10CM:C24.1 {source="ORDO:424991/nd", source="Orphanet:424991"} -xref: ICD10CM:C24.8 {source="ORDO:424991/nd", source="Orphanet:424991"} +xref: ICD10CM:C23 {source="Orphanet:424991/nd", source="Orphanet:424991"} +xref: ICD10CM:C24.0 {source="Orphanet:424991/nd", source="Orphanet:424991"} +xref: ICD10CM:C24.1 {source="Orphanet:424991/nd", source="Orphanet:424991"} +xref: ICD10CM:C24.8 {source="Orphanet:424991/nd", source="Orphanet:424991"} xref: Orphanet:424991 {source="MONDO:equivalentTo"} xref: SCTID:765741003 {source="MONDO:equivalentTo"} xref: UMLS:CN237537 {source="MONDO:equivalentTo"} @@ -356182,11 +356020,11 @@ name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract def: "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." [Orphanet:424996] subset: ordo_disease {source="Orphanet:424996"} synonym: "squamous cell carcinoma of gallblader and EBT" EXACT [Orphanet:424996] -xref: ICD10CM:C23 {source="Orphanet:424996", source="ORDO:424996/nd"} -xref: ICD10CM:C24.0 {source="Orphanet:424996", source="ORDO:424996/nd"} -xref: ICD10CM:C24.1 {source="Orphanet:424996", source="ORDO:424996/nd"} -xref: ICD10CM:C24.8 {source="Orphanet:424996", source="ORDO:424996/nd"} -xref: ICD10CM:C24.9 {source="Orphanet:424996", source="ORDO:424996/nd"} +xref: ICD10CM:C23 {source="Orphanet:424996/nd", source="Orphanet:424996"} +xref: ICD10CM:C24.0 {source="Orphanet:424996/nd", source="Orphanet:424996"} +xref: ICD10CM:C24.1 {source="Orphanet:424996/nd", source="Orphanet:424996"} +xref: ICD10CM:C24.8 {source="Orphanet:424996/nd", source="Orphanet:424996"} +xref: ICD10CM:C24.9 {source="Orphanet:424996/nd", source="Orphanet:424996"} xref: Orphanet:424996 {source="MONDO:equivalentTo"} xref: SCTID:766978002 {source="MONDO:equivalentTo"} xref: UMLS:CN237538 {source="MONDO:equivalentTo"} @@ -356232,7 +356070,7 @@ synonym: "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome" E synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [Orphanet:42642] synonym: "PFAPA" EXACT ABBREVIATION [GARD:0005657] xref: GARD:0005657 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E85.0 {source="Orphanet:42642", source="ORDO:42642/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:42642/ntbt", source="Orphanet:42642"} xref: NCIT:C116917 {source="MONDO:equivalentTo"} xref: Orphanet:42642 {source="MONDO:equivalentTo"} xref: SCTID:717231003 {source="MONDO:equivalentTo"} @@ -356249,10 +356087,10 @@ id: MONDO:0018541 name: familial hypoaldosteronism def: "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." [Orphanet:427] subset: ordo_disease {source="Orphanet:427"} -xref: ICD10CM:E27.4 {source="Orphanet:427", source="ORDO:427/attributed", source="ORDO:427/ntbt"} -xref: OMIM:203400 {source="Orphanet:427", source="MONDO:superClassOf", source="ORDO:427/btnt"} -xref: OMIM:606984 {source="Orphanet:427", source="MONDO:superClassOf", source="ORDO:427/btnt"} -xref: OMIM:610600 {source="Orphanet:427", source="MONDO:superClassOf", source="ORDO:427/btnt"} +xref: ICD10CM:E27.4 {source="Orphanet:427/attributed", source="Orphanet:427/ntbt", source="Orphanet:427"} +xref: OMIM:203400 {source="Orphanet:427/btnt", source="Orphanet:427", source="MONDO:superClassOf"} +xref: OMIM:606984 {source="Orphanet:427/btnt", source="Orphanet:427", source="MONDO:superClassOf"} +xref: OMIM:610600 {source="Orphanet:427/btnt", source="Orphanet:427", source="MONDO:superClassOf"} xref: Orphanet:427 {source="MONDO:equivalentTo"} xref: SCTID:715343000 {source="MONDO:equivalentTo"} xref: UMLS:C4275180 {source="MONDO:equivalentTo"} @@ -356269,10 +356107,10 @@ subset: ordo_group_of_disorders {source="Orphanet:42738"} synonym: "neutropenia, severe congenital" EXACT [OMIMPS:202700] synonym: "SCN" EXACT ABBREVIATION [] xref: DOID:0050590 {source="MONDO:equivalentTo"} -xref: ICD10CM:D70 {source="MONDO:subClassOf", source="ORDO:42738/attributed", source="ORDO:42738/ntbt", source="Orphanet:42738", source="DOID:0050590"} +xref: ICD10CM:D70 {source="MONDO:subClassOf", source="Orphanet:42738/attributed", source="Orphanet:42738/ntbt", source="Orphanet:42738", source="DOID:0050590"} xref: ICD9:288.01 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10052210 {source="ORDO:42738/e", source="Orphanet:42738"} -xref: MESH:C537592 {source="ORDO:42738/e", source="Orphanet:42738"} +xref: MedDRA:10052210 {source="Orphanet:42738/e", source="Orphanet:42738"} +xref: MESH:C537592 {source="Orphanet:42738/e", source="Orphanet:42738"} xref: OMIM:202700 {source="MONDO:superClassOf", source="DOID:0050590"} xref: OMIM:300299 {source="MONDO:superClassOf", source="DOID:0050590"} xref: OMIM:610738 {source="MONDO:superClassOf", source="DOID:0050590"} @@ -356285,7 +356123,7 @@ xref: Orphanet:42738 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="MONDO:superClassOf", source="DOID:0050590"} xref: Orphanet:86788 {source="MONDO:superClassOf", source="DOID:0050590"} xref: SCTID:89655007 {source="MONDO:equivalentTo"} -xref: UMLS:C1853118 {source="ORDO:42738/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:42738"} +xref: UMLS:C1853118 {source="Orphanet:42738/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:42738"} is_a: MONDO:0001475 {source="DOID:0050590", source="linkedlifedata"} ! neutropenia is_a: MONDO:0015134 {source="Orphanet:42738"} ! constitutional neutropenia relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -356304,9 +356142,9 @@ synonym: "hypocalcemia" BROAD [OMIMPS:601198] synonym: "hypocalcemia, autosomal dominant" EXACT [GARD:0002877] xref: DOID:0090109 {source="MONDO:equivalentTo"} xref: GARD:0002877 {source="MONDO:equivalentTo", source="DOID:0090109"} -xref: ICD10CM:E20.8 {source="Orphanet:428", source="ORDO:428/attributed", source="ORDO:428/ntbt", source="DOID:0090109"} -xref: OMIM:601198 {source="ORDO:428/e", source="MONDO:superClassOf", source="Orphanet:428"} -xref: OMIM:615361 {source="MONDO:superClassOf", source="Orphanet:428", source="ORDO:428/btnt"} +xref: ICD10CM:E20.8 {source="Orphanet:428", source="Orphanet:428/attributed", source="Orphanet:428/ntbt", source="DOID:0090109"} +xref: OMIM:601198 {source="MONDO:superClassOf", source="Orphanet:428", source="Orphanet:428/e"} +xref: OMIM:615361 {source="MONDO:superClassOf", source="Orphanet:428", source="Orphanet:428/btnt"} xref: OMIMPS:601198 {source="MONDO:cjm", source="MONDO:equivalentTo", source="DOID:0090109"} xref: Orphanet:428 {source="MONDO:equivalentTo", source="DOID:0090109"} xref: SCTID:711152006 {source="MONDO:equivalentTo"} @@ -356346,18 +356184,18 @@ synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588] synonym: "X-linked ALD" EXACT [Orphanet:43] xref: DOID:10588 {source="MONDO:equivalentTo"} xref: GARD:0005758 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E71.3 {source="Orphanet:43", source="ORDO:43/inclusion", source="ORDO:43/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:43", source="Orphanet:43/ntbt", source="Orphanet:43/inclusion"} xref: ICD10CM:E71.52 {source="DOID:10588"} xref: ICD10CM:E71.529 {source="DOID:10588"} xref: ICD10CM:G37.0 {source="DOID:10588"} xref: ICD9:341.1 {source="DOID:10588", source="MONDO:relatedTo"} -xref: MedDRA:10051260 {source="Orphanet:43", source="ORDO:43/e"} -xref: MESH:D000326 {source="DOID:10588", source="Orphanet:43", source="ORDO:43/e", source="MONDO:equivalentTo"} +xref: MedDRA:10051260 {source="Orphanet:43", source="Orphanet:43/e"} +xref: MESH:D000326 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"} xref: MESH:D002549 {source="DOID:10588", source="MONDO:unrelated"} xref: NCIT:C61252 {source="DOID:10588", source="MONDO:equivalentTo"} xref: NCIT:C84670 {source="DOID:10588"} -xref: OMIM:300100 {source="DOID:10588", source="Orphanet:43", source="ORDO:43/e", source="MONDO:equivalentTo"} -xref: OMIM:302700 {source="Orphanet:43", source="MONDO:relatedTo", source="ORDO:43/btnt"} +xref: OMIM:300100 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"} +xref: OMIM:302700 {source="Orphanet:43", source="MONDO:relatedTo", source="Orphanet:43/btnt"} xref: Orphanet:43 {source="MONDO:equivalentTo"} xref: SCTID:155059003 {source="DOID:10588"} xref: SCTID:192932009 {source="DOID:10588"} @@ -356366,7 +356204,7 @@ xref: SCTID:44875002 {source="DOID:10588"} xref: SCTID:49692006 {source="DOID:10588", source="MONDO:relatedTo"} xref: SCTID:65389002 {source="DOID:10588"} xref: UMLS:C0007795 {source="DOID:10588", source="MONDO:relatedTo"} -xref: UMLS:C0162309 {source="DOID:10588", source="Orphanet:43", source="ORDO:43/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0162309 {source="DOID:10588", source="Orphanet:43", source="Orphanet:43/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000425 {source="MESH:D000326/inferred", source="Orphanet:43"} ! X-linked disease is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:43", source="Orphanet:43/inferred"} ! adrenal gland disorder is_a: MONDO:0015547 ! genetic dementia @@ -356401,11 +356239,11 @@ synonym: "serotonin toxicity" EXACT [Orphanet:43116] synonym: "serotonin toxidrome" EXACT [Orphanet:43116] xref: EFO:1001842 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10040108 {source="ORDO:43116/e", source="Orphanet:43116"} -xref: MESH:D020230 {source="ORDO:43116/e", source="Orphanet:43116", source="MONDO:equivalentTo"} +xref: MedDRA:10040108 {source="Orphanet:43116", source="Orphanet:43116/e"} +xref: MESH:D020230 {source="Orphanet:43116", source="MONDO:equivalentTo", source="Orphanet:43116/e"} xref: Orphanet:43116 {source="MONDO:equivalentTo"} xref: SCTID:371089000 {source="MONDO:equivalentTo"} -xref: UMLS:C0699828 {source="ORDO:43116/e", source="Orphanet:43116", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0699828 {source="Orphanet:43116", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:43116/e"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder [Term] @@ -356413,7 +356251,7 @@ id: MONDO:0018547 name: acute tricyclic antidepressant poisoning def: "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." [Orphanet:43117] subset: ordo_clinical_situation {source="Orphanet:43117"} -xref: ICD10CM:T43.0 {source="Orphanet:43117", source="ORDO:43117/ntbt"} +xref: ICD10CM:T43.0 {source="Orphanet:43117/ntbt", source="Orphanet:43117"} xref: Orphanet:43117 {source="MONDO:equivalentTo"} xref: UMLS:CN227537 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning @@ -356461,7 +356299,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:431341"} synonym: "patent urachus" EXACT [MONDO:ambiguous] synonym: "patent urachus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0010479 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q64.4 {source="Orphanet:431341", source="ORDO:431341/ntbt"} +xref: ICD10CM:Q64.4 {source="Orphanet:431341", source="Orphanet:431341/ntbt"} xref: NCIT:C99005 {source="MONDO:equivalentTo"} xref: Orphanet:431341 {source="MONDO:equivalentTo"} xref: SCTID:398316009 {source="MONDO:equivalentTo"} @@ -356475,7 +356313,7 @@ id: MONDO:0018552 name: urachal sinus def: "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." [Orphanet:431344] subset: ordo_morphological_anomaly {source="Orphanet:431344"} -xref: ICD10CM:Q64.4 {source="Orphanet:431344", source="ORDO:431344/ntbt"} +xref: ICD10CM:Q64.4 {source="Orphanet:431344", source="Orphanet:431344/ntbt"} xref: Orphanet:431344 {source="MONDO:equivalentTo"} xref: SCTID:451030007 {source="MONDO:equivalentTo"} xref: UMLS:CN237553 {source="MONDO:equivalentTo"} @@ -356487,7 +356325,7 @@ name: urachal diverticulum def: "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." [Orphanet:431347] subset: ordo_morphological_anomaly {source="Orphanet:431347"} synonym: "Vesicourachal diverticulum" EXACT [Orphanet:431347] -xref: ICD10CM:Q64.4 {source="ORDO:431347/ntbt", source="Orphanet:431347"} +xref: ICD10CM:Q64.4 {source="Orphanet:431347", source="Orphanet:431347/ntbt"} xref: NCIT:C123254 {source="MONDO:equivalentTo"} xref: Orphanet:431347 {source="MONDO:equivalentTo"} xref: SCTID:253899000 {source="MONDO:equivalentTo"} @@ -356530,27 +356368,27 @@ synonym: "secondary hypogonadism" EXACT [NCIT:C113347] xref: DOID:0090070 {source="MONDO:equivalentTo"} xref: DOID:7455 {source="MONDO:equivalentObsolete"} xref: HP:0000044 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E23.0 {source="ORDO:432/inclusion", source="MONDO:relatedTo", source="DOID:0090070", source="ORDO:432/ntbt", source="Orphanet:432"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:432/ntbt", source="DOID:0090070", source="Orphanet:432/inclusion", source="Orphanet:432"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C113347 {source="MONDO:equivalentTo"} -xref: OMIM:146110 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:147950 {source="MONDO:superClassOf", source="ORDO:432/ntbt"} -xref: OMIM:244200 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:308700 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:610628 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:612370 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:612702 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614837 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614838 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614839 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614840 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614841 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614842 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614858 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:614880 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:615266 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:615269 {source="MONDO:superClassOf", source="ORDO:432/btnt"} -xref: OMIM:615270 {source="MONDO:superClassOf", source="ORDO:432/btnt"} +xref: OMIM:146110 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:147950 {source="MONDO:superClassOf", source="Orphanet:432/ntbt"} +xref: OMIM:244200 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:308700 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:610628 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:612370 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:612702 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614837 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614838 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614839 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614840 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614841 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614842 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614858 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:614880 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:615266 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:615269 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} +xref: OMIM:615270 {source="MONDO:superClassOf", source="Orphanet:432/btnt"} xref: OMIMPS:147950 {source="MONDO:equivalentTo", source="DOID:0090070"} xref: Orphanet:432 {source="MONDO:equivalentTo", source="DOID:0090070"} xref: Orphanet:478 {source="MONDO:superClassOf", source="DOID:0090070"} @@ -356580,15 +356418,15 @@ synonym: "myasthenic-myopathic syndrome of Lambert-Eaton" EXACT [GARD:0006851] xref: DOID:0050214 {source="MONDO:equivalentTo"} xref: GARD:0006851 {source="MONDO:equivalentTo"} xref: ICD10CM:G70.80 {source="DOID:0050214"} -xref: ICD10CM:G73.1 {source="ORDO:43393/e", source="Orphanet:43393"} +xref: ICD10CM:G73.1 {source="Orphanet:43393/e", source="Orphanet:43393"} xref: ICD9:358.3 {source="DOID:0050214"} -xref: MedDRA:10067685 {source="ORDO:43393/e", source="Orphanet:43393"} -xref: MESH:D015624 {source="DOID:0050214", source="MONDO:equivalentTo", source="ORDO:43393/e", source="Orphanet:43393"} +xref: MedDRA:10067685 {source="Orphanet:43393/e", source="Orphanet:43393"} +xref: MESH:D015624 {source="Orphanet:43393/e", source="DOID:0050214", source="MONDO:equivalentTo", source="Orphanet:43393"} xref: NCIT:C3155 {source="DOID:0050214", source="MONDO:equivalentTo"} xref: Orphanet:43393 {source="MONDO:equivalentTo"} xref: SCTID:230688006 {source="DOID:0050214"} xref: SCTID:56989000 {source="DOID:0050214", source="MONDO:equivalentTo"} -xref: UMLS:C0022972 {source="DOID:0050214", source="MONDO:equivalentTo", source="ORDO:43393/e", source="NCIT:C3155", source="Orphanet:43393"} +xref: UMLS:C0022972 {source="Orphanet:43393/e", source="DOID:0050214", source="MONDO:equivalentTo", source="NCIT:C3155", source="Orphanet:43393"} is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:43393"} ! paraneoplastic neurologic syndrome is_a: MONDO:0018743 {source="Orphanet:43393"} ! immune-mediated acquired neuromuscular junction disease is_a: MONDO:0021073 {source="MESH:D015624/inferred", source="MONDO:Redundant", source="NCIT:C3155", source="indirect"} ! paraneoplastic syndrome @@ -356642,7 +356480,7 @@ id: MONDO:0018560 name: anterior urethral valve comment: Editor note: consider obsoleting as represents a finding subset: ordo_morphological_anomaly {source="Orphanet:435372"} -xref: ICD10CM:Q64.7 {source="ORDO:435372/attributed", source="ORDO:435372/ntbt", source="Orphanet:435372"} +xref: ICD10CM:Q64.7 {source="Orphanet:435372/attributed", source="Orphanet:435372/ntbt", source="Orphanet:435372"} xref: Orphanet:435372 {source="MONDO:equivalentTo"} xref: SCTID:253907008 {source="MONDO:equivalentTo"} xref: UMLS:CN242188 {source="MONDO:equivalentTo"} @@ -356677,7 +356515,7 @@ id: MONDO:0018563 name: adactyly of foot subset: ordo_morphological_anomaly {source="Orphanet:435623"} synonym: "congenital absence of toes" EXACT [Orphanet:435623] -xref: ICD10CM:Q72.8 {source="Orphanet:435623", source="ORDO:435623/attributed", source="ORDO:435623/ntbt"} +xref: ICD10CM:Q72.8 {source="Orphanet:435623", source="Orphanet:435623/attributed", source="Orphanet:435623/ntbt"} xref: Orphanet:435623 {source="MONDO:equivalentTo"} xref: SCTID:66345008 {source="MONDO:equivalentTo"} is_a: MONDO:0017421 {source="Orphanet:435623"} ! non-syndromic terminal limb defects @@ -356690,7 +356528,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:435638"} synonym: "Del(3)p(25.3)" EXACT [Orphanet:435638] synonym: "intellectual disability-epilepsy-stereotypic hand movement syndrome" EXACT [Orphanet:435638] synonym: "monosomy 3p25.3" EXACT [Orphanet:435638] -xref: ICD10CM:Q93.5 {source="ORDO:435638/attributed", source="ORDO:435638/ntbt", source="Orphanet:435638"} +xref: ICD10CM:Q93.5 {source="Orphanet:435638", source="Orphanet:435638/attributed", source="Orphanet:435638/ntbt"} xref: Orphanet:435638 {source="MONDO:equivalentTo"} xref: UMLS:CN237571 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:435638"} ! syndromic intellectual disability @@ -356715,7 +356553,7 @@ is_a: MONDO:0019720 {source="Orphanet:435743"} ! non-syndromic renal or urinary id: MONDO:0018566 name: short stature-advanced bone age-early-onset osteoarthritis syndrome subset: ordo_disease {source="Orphanet:435804"} -xref: ICD10CM:M89.8 {source="ORDO:435804/attributed", source="ORDO:435804/ntbt", source="Orphanet:435804"} +xref: ICD10CM:M89.8 {source="Orphanet:435804", source="Orphanet:435804/attributed", source="Orphanet:435804/ntbt"} xref: Orphanet:435804 {source="MONDO:equivalentTo"} xref: UMLS:CN237575 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:435804"} ! primary bone dysplasia @@ -356726,8 +356564,8 @@ id: MONDO:0018567 name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation subset: ordo_disease {source="Orphanet:435819"} synonym: "CMT2 due to TFG mutation" EXACT [Orphanet:435819] -xref: ICD10CM:G60.0 {source="ORDO:435819/attributed", source="ORDO:435819/ntbt", source="Orphanet:435819"} -xref: OMIM:604484 {source="MONDO:subClassOf", source="ORDO:435819/w", source="Orphanet:435819"} +xref: ICD10CM:G60.0 {source="Orphanet:435819/attributed", source="Orphanet:435819/ntbt", source="Orphanet:435819"} +xref: OMIM:604484 {source="MONDO:subClassOf", source="Orphanet:435819/w", source="Orphanet:435819"} xref: Orphanet:435819 {source="MONDO:equivalentTo"} xref: UMLS:CN237576 {source="MONDO:equivalentTo"} is_a: MONDO:0011468 ! hereditary motor and sensory neuropathy, Okinawa type @@ -356748,7 +356586,7 @@ id: MONDO:0018569 name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome def: "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." [Orphanet:435938] subset: ordo_malformation_syndrome {source="Orphanet:435938"} -xref: ICD10CM:Q87.8 {source="ORDO:435938/attributed", source="ORDO:435938/ntbt", source="Orphanet:435938"} +xref: ICD10CM:Q87.8 {source="Orphanet:435938/attributed", source="Orphanet:435938/ntbt", source="Orphanet:435938"} xref: Orphanet:435938 {source="MONDO:equivalentTo"} xref: UMLS:CN237580 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:435938"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -356770,23 +356608,23 @@ synonym: "phosphoethanolaminuria" EXACT [Orphanet:436] synonym: "Rathburn disease" EXACT [Orphanet:436] xref: DOID:14213 {source="MONDO:equivalentTo"} xref: GARD:0006734 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E83.3 {source="Orphanet:436", source="ORDO:436/inclusion", source="ORDO:436/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:E83.3 {source="Orphanet:436/inclusion", source="Orphanet:436", source="Orphanet:436/ntbt", source="MONDO:directSiblingOf"} xref: ICD10CM:E83.39 {source="DOID:14213"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10049933 {source="ORDO:436/e", source="Orphanet:436"} +xref: MedDRA:10049933 {source="Orphanet:436", source="Orphanet:436/e"} xref: MESH:C562440 {source="MONDO:superClassOf", source="DOID:14213"} -xref: MESH:D007014 {source="ORDO:436/e", source="Orphanet:436", source="MONDO:equivalentTo", source="DOID:14213"} +xref: MESH:D007014 {source="Orphanet:436", source="MONDO:equivalentTo", source="Orphanet:436/e", source="DOID:14213"} xref: NCIT:C26798 {source="MONDO:equivalentTo", source="DOID:14213"} -xref: OMIM:146300 {source="Orphanet:436", source="MONDO:superClassOf", source="ORDO:436/btnt"} -xref: OMIM:241500 {source="Orphanet:436", source="MONDO:superClassOf", source="ORDO:436/btnt"} -xref: OMIM:241510 {source="Orphanet:436", source="MONDO:superClassOf", source="ORDO:436/btnt"} +xref: OMIM:146300 {source="Orphanet:436", source="Orphanet:436/btnt", source="MONDO:superClassOf"} +xref: OMIM:241500 {source="Orphanet:436", source="Orphanet:436/btnt", source="MONDO:superClassOf"} +xref: OMIM:241510 {source="Orphanet:436", source="Orphanet:436/btnt", source="MONDO:superClassOf"} xref: Orphanet:436 {source="MONDO:equivalentTo"} xref: SCTID:124431003 {source="DOID:14213"} xref: SCTID:190859005 {source="DOID:14213"} xref: SCTID:30174008 {source="MONDO:superClassOf", source="DOID:14213"} xref: SCTID:360792001 {source="MONDO:equivalentTo", source="DOID:14213"} xref: SCTID:70848009 {source="DOID:14213"} -xref: UMLS:C0020630 {source="ORDO:436/e", source="Orphanet:436", source="MONDO:equivalentTo", source="NCIT:C26798", source="DOID:14213"} +xref: UMLS:C0020630 {source="Orphanet:436", source="MONDO:equivalentTo", source="Orphanet:436/e", source="NCIT:C26798", source="DOID:14213"} xref: UMLS:C0220743 {source="MONDO:superClassOf", source="DOID:14213"} is_a: MONDO:0000426 {source="DOID:14213", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0005066 {source="MESH:D007014/inferred", source="MONDO:Redundant", source="NCIT:C26798", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease @@ -356801,7 +356639,7 @@ id: MONDO:0018571 name: contractures-developmental delay-Pierre Robin syndrome subset: ordo_malformation_syndrome {source="Orphanet:436003"} synonym: "5q23 microdeletion syndrome" EXACT [Orphanet:436003] -xref: ICD10CM:Q87.0 {source="ORDO:436003/attributed", source="ORDO:436003/ntbt", source="Orphanet:436003"} +xref: ICD10CM:Q87.0 {source="Orphanet:436003/attributed", source="Orphanet:436003/ntbt", source="Orphanet:436003"} xref: Orphanet:436003 {source="MONDO:equivalentTo"} xref: UMLS:CN237584 {source="MONDO:equivalentTo"} is_a: MONDO:0015160 {source="Orphanet:436003", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -356813,7 +356651,7 @@ is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:436003"} ! genet id: MONDO:0018572 name: severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome subset: ordo_malformation_syndrome {source="Orphanet:436141"} -xref: ICD10CM:Q87.8 {source="ORDO:436141/attributed", source="ORDO:436141/ntbt", source="Orphanet:436141"} +xref: ICD10CM:Q87.8 {source="Orphanet:436141", source="Orphanet:436141/attributed", source="Orphanet:436141/ntbt"} xref: Orphanet:436141 {source="MONDO:equivalentTo"} xref: UMLS:CN237585 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:436141", source="indirect"} ! syndromic intellectual disability @@ -356826,7 +356664,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO: id: MONDO:0018573 name: intrauterine growth restriction-short stature-early adult-onset diabetes syndrome subset: ordo_disease {source="Orphanet:436144"} -xref: ICD10CM:Q87.1 {source="ORDO:436144/attributed", source="ORDO:436144/ntbt", source="Orphanet:436144"} +xref: ICD10CM:Q87.1 {source="Orphanet:436144/attributed", source="Orphanet:436144/ntbt", source="Orphanet:436144"} xref: Orphanet:436144 {source="MONDO:equivalentTo"} xref: UMLS:CN237586 {source="MONDO:equivalentTo"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus @@ -356836,9 +356674,9 @@ id: MONDO:0018574 name: intellectual disability-expressive aphasia-facial dysmorphism syndrome subset: ordo_disease {source="Orphanet:436151"} synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151] -xref: ICD10CM:Q87.0 {source="ORDO:436151/attributed", source="ORDO:436151/ntbt", source="Orphanet:436151"} -xref: OMIM:616078 {source="ORDO:436151/btnt", source="MONDO:superClassOf", source="Orphanet:436151"} -xref: OMIM:616083 {source="ORDO:436151/btnt", source="MONDO:superClassOf", source="Orphanet:436151"} +xref: ICD10CM:Q87.0 {source="Orphanet:436151", source="Orphanet:436151/attributed", source="Orphanet:436151/ntbt"} +xref: OMIM:616078 {source="MONDO:superClassOf", source="Orphanet:436151", source="Orphanet:436151/btnt"} +xref: OMIM:616083 {source="MONDO:superClassOf", source="Orphanet:436151", source="Orphanet:436151/btnt"} xref: Orphanet:436151 {source="MONDO:equivalentTo"} xref: UMLS:CN237587 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:436151"} ! syndromic intellectual disability @@ -356848,8 +356686,8 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare id: MONDO:0018575 name: microcephalic primordial dwarfism-insulin resistance syndrome subset: ordo_malformation_syndrome {source="Orphanet:436182"} -xref: ICD10CM:Q87.1 {source="ORDO:436182/attributed", source="ORDO:436182/ntbt", source="Orphanet:436182"} -xref: OMIM:616541 {source="MONDO:superClassOf", source="ORDO:436182/btnt", source="Orphanet:436182"} +xref: ICD10CM:Q87.1 {source="Orphanet:436182", source="Orphanet:436182/attributed", source="Orphanet:436182/ntbt"} +xref: OMIM:616541 {source="MONDO:superClassOf", source="Orphanet:436182", source="Orphanet:436182/btnt"} xref: OMIM:617253 {source="MONDO:superClassOf", source="Orphanet:436182"} xref: Orphanet:436182 {source="MONDO:equivalentTo"} xref: UMLS:CN237592 {source="MONDO:equivalentTo"} @@ -356860,7 +356698,7 @@ is_a: MONDO:0019852 {source="Orphanet:436182"} ! inherited primary ovarian failu id: MONDO:0018576 name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy subset: ordo_disease {source="Orphanet:436271"} -xref: ICD10CM:G93.4 {source="ORDO:436271/attributed", source="ORDO:436271/ntbt", source="Orphanet:436271"} +xref: ICD10CM:G93.4 {source="Orphanet:436271", source="Orphanet:436271/attributed", source="Orphanet:436271/ntbt"} xref: Orphanet:436271 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019046 {source="Orphanet:436271"} ! leukodystrophy @@ -356872,7 +356710,7 @@ id: MONDO:0018577 name: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa subset: ordo_disease {source="Orphanet:436274"} synonym: "PXE-like syndrome with retinitis pigmentosa" EXACT [Orphanet:436274] -xref: ICD10CM:Q82.8 {source="ORDO:436274/attributed", source="ORDO:436274/ntbt", source="Orphanet:436274"} +xref: ICD10CM:Q82.8 {source="Orphanet:436274/attributed", source="Orphanet:436274/ntbt", source="Orphanet:436274"} xref: Orphanet:436274 {source="MONDO:equivalentTo"} xref: UMLS:CN237597 {source="MONDO:equivalentTo"} is_a: MONDO:0019292 {source="Orphanet:436274", source="Orphanet:436274/inferred"} ! dermis elastic tissue disorder @@ -356900,8 +356738,8 @@ is_a: MONDO:0019223 {source="Orphanet:438072"} ! inborn disorder of fatty acid o id: MONDO:0018580 name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome subset: ordo_disease {source="Orphanet:438213"} -xref: ICD10CM:G40.4 {source="Orphanet:438213", source="ORDO:438213/attributed", source="ORDO:438213/ntbt"} -xref: OMIM:616158 {source="MONDO:superClassOf", source="Orphanet:438213", source="ORDO:438213/btnt"} +xref: ICD10CM:G40.4 {source="Orphanet:438213/attributed", source="Orphanet:438213/ntbt", source="Orphanet:438213"} +xref: OMIM:616158 {source="MONDO:superClassOf", source="Orphanet:438213/btnt", source="Orphanet:438213"} xref: Orphanet:438213 {source="MONDO:equivalentTo"} xref: UMLS:CN237608 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:438213"} ! syndromic intellectual disability @@ -356915,8 +356753,8 @@ subset: gard_rare {source="GARD:0013110"} subset: ordo_clinical_subtype {source="Orphanet:438266"} synonym: "perm" EXACT [Orphanet:438266] xref: GARD:0013110 {source="MONDO:equivalentTo"} -xref: ICD10CM:G04.8 {source="ORDO:438266/ntbt", source="Orphanet:438266"} -xref: OMIM:184850 {source="MONDO:subClassOf", source="ORDO:438266/ntbt", source="Orphanet:438266"} +xref: ICD10CM:G04.8 {source="Orphanet:438266", source="Orphanet:438266/ntbt"} +xref: OMIM:184850 {source="MONDO:subClassOf", source="Orphanet:438266", source="Orphanet:438266/ntbt"} xref: Orphanet:438266 {source="MONDO:equivalentTo"} xref: UMLS:C1861457 {source="MONDO:equivalentTo", source="Orphanet:438266"} is_a: MONDO:0008491 {source="Orphanet:438266"} ! stiff-person syndrome @@ -356931,7 +356769,7 @@ synonym: "Mahvash disease" EXACT [Orphanet:438274] synonym: "Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" EXACT [GARD:0010460] synonym: "Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460] xref: GARD:0010460 {source="MONDO:equivalentTo"} -xref: ICD10CM:E16.3 {source="ORDO:438274/ntbt", source="Orphanet:438274"} +xref: ICD10CM:E16.3 {source="Orphanet:438274", source="Orphanet:438274/ntbt"} xref: Orphanet:438274 {source="MONDO:equivalentTo"} xref: UMLS:CN237611 {source="MONDO:equivalentTo"} is_a: MONDO:0021040 {source="Orphanet:438274"} ! pancreatic neoplasm @@ -356941,7 +356779,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015621", source="MONDO: id: MONDO:0018583 name: human infection by orthopoxvirus subset: ordo_disease {source="Orphanet:438279"} -xref: ICD10CM:B08.0 {source="Orphanet:438279", source="ORDO:438279/e"} +xref: ICD10CM:B08.0 {source="Orphanet:438279/e", source="Orphanet:438279"} xref: Orphanet:438279 {source="MONDO:equivalentTo"} xref: UMLS:CN237612 {source="MONDO:equivalentTo"} is_a: MONDO:0005108 {source="Orphanet:438279"} ! viral infectious disease @@ -356960,7 +356798,7 @@ subset: ordo_clinical_syndrome {source="Orphanet:439175"} synonym: "childhood AIS" EXACT [Orphanet:439175] synonym: "childhood arterial ischemic stroke" EXACT [Orphanet:439175] synonym: "pediatric AIS" EXACT [Orphanet:439175] -xref: ICD10CM:I63.5 {source="ORDO:439175/ntbt", source="Orphanet:439175"} +xref: ICD10CM:I63.5 {source="Orphanet:439175", source="Orphanet:439175/ntbt"} xref: Orphanet:439175 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="Orphanet:439175", source="Orphanet:439175/inferred"} ! vascular disorder is_a: MONDO:0020676 {source="Orphanet:439175"} ! disorder of central nervous system or retinal vasculature @@ -356976,7 +356814,7 @@ name: zinc-responsive necrolytic acral erythema subset: ordo_clinical_situation {source="Orphanet:439196"} synonym: "NAE" EXACT ABBREVIATION [Orphanet:439196] synonym: "necrolytic acral erythema" EXACT [Orphanet:439196] -xref: ICD10CM:L53.8 {source="ORDO:439196/ntbt", source="Orphanet:439196"} +xref: ICD10CM:L53.8 {source="Orphanet:439196", source="Orphanet:439196/ntbt"} xref: Orphanet:439196 {source="MONDO:equivalentTo"} xref: SCTID:762543009 {source="MONDO:equivalentTo"} xref: UMLS:CN237615 {source="MONDO:equivalentTo"} @@ -356991,7 +356829,7 @@ synonym: "chronic obstetric brachial plexus injury" EXACT [Orphanet:439202] synonym: "chronic obstetric brachial plexus palsy" EXACT [Orphanet:439202] synonym: "non-recovering OBPI" EXACT [Orphanet:439202] synonym: "non-recovering OBPL" EXACT [Orphanet:439202] -xref: ICD10CM:P14.3 {source="ORDO:439202/ntbt", source="Orphanet:439202"} +xref: ICD10CM:P14.3 {source="Orphanet:439202/ntbt", source="Orphanet:439202"} xref: Orphanet:439202 {source="MONDO:equivalentTo"} xref: UMLS:CN237616 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:439202"} ! acquired peripheral neuropathy @@ -357003,7 +356841,7 @@ def: "A rare, systemic amyloidosis characterized by slowly progressive renal dis subset: ordo_disease {source="Orphanet:439224"} synonym: "LECT2 amyloidosis" EXACT [https://orcid.org/0000-0002-2825-0621] synonym: "leukocyte chemotactic factor-2 amyloidosis" EXACT [Orphanet:439224] -xref: ICD10CM:E85.8 {source="ORDO:439224/ntbt", source="Orphanet:439224"} +xref: ICD10CM:E85.8 {source="Orphanet:439224/ntbt", source="Orphanet:439224"} xref: Orphanet:439224 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439224"} ! amyloidosis @@ -357012,7 +356850,7 @@ id: MONDO:0018589 name: AApoAIV amyloidosis subset: ordo_disease {source="Orphanet:439232"} synonym: "apolipoprotein A-IV amyloidosis" EXACT [Orphanet:439232] -xref: ICD10CM:E85.8 {source="ORDO:439232/ntbt", source="Orphanet:439232"} +xref: ICD10CM:E85.8 {source="Orphanet:439232", source="Orphanet:439232/ntbt"} xref: Orphanet:439232 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis is_a: MONDO:0019724 {source="Orphanet:439232"} ! secondary glomerular disease @@ -357033,11 +356871,11 @@ subset: ordo_disease {source="Orphanet:439254"} synonym: "familial cerebral amyloid angiopathy" EXACT [Orphanet:439254] synonym: "ITM2B-related amyloidosis" EXACT [Orphanet:439254] synonym: "ITM2B-related cerebral amyloid angiopathy" EXACT [Orphanet:439254] -xref: ICD10EXP:E85.4+ {source="ORDO:439254/attributed", source="ORDO:439254/ntbt", source="Orphanet:439254"} -xref: ICD10EXP:I68.0* {source="ORDO:439254/attributed", source="ORDO:439254/ntbt", source="Orphanet:439254"} +xref: ICD10EXP:E85.4+ {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} +xref: ICD10EXP:I68.0* {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:117300 {source="ORDO:439254/btnt", source="MONDO:superClassOf", source="Orphanet:439254"} -xref: OMIM:176500 {source="ORDO:439254/btnt", source="MONDO:superClassOf", source="Orphanet:439254"} +xref: OMIM:117300 {source="MONDO:superClassOf", source="Orphanet:439254", source="Orphanet:439254/btnt"} +xref: OMIM:176500 {source="MONDO:superClassOf", source="Orphanet:439254", source="Orphanet:439254/btnt"} xref: Orphanet:439254 {source="MONDO:equivalentTo"} xref: SCTID:45639009 {source="MONDO:equivalentTo"} xref: UMLS:CN237622 {source="MONDO:equivalentTo"} @@ -357055,7 +356893,7 @@ subset: ordo_clinical_subtype {source="Orphanet:439729"} synonym: "cutaneous PAN" EXACT [Orphanet:439729] synonym: "cutaneous periarteritis nodosa" EXACT [Orphanet:439729] xref: GARD:0007415 {source="MONDO:equivalentTo"} -xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="ORDO:439729/ntbt", source="Orphanet:439729"} +xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="Orphanet:439729", source="Orphanet:439729/ntbt"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C117295 {source="MONDO:equivalentTo"} xref: Orphanet:439729 {source="MONDO:equivalentTo"} @@ -357072,7 +356910,7 @@ name: primary polyarteritis nodosa subset: ordo_clinical_subtype {source="Orphanet:439737"} synonym: "primary PAN" EXACT [Orphanet:439737] synonym: "primary periarteritis nodosa" EXACT [Orphanet:439737] -xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="Orphanet:439737", source="ORDO:439737/e"} +xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="Orphanet:439737", source="Orphanet:439737/e"} xref: Orphanet:439737 {source="MONDO:equivalentTo"} xref: UMLS:CN237623 {source="MONDO:equivalentTo"} is_a: MONDO:0019170 {source="Orphanet:439737"} ! polyarteritis nodosa @@ -357085,7 +356923,7 @@ subset: ordo_clinical_subtype {source="Orphanet:439746"} synonym: "Scondary PAN" EXACT [Orphanet:439746] synonym: "secondary PAN" EXACT [Orphanet:439746] synonym: "secondary periarteritis nodosa" EXACT [Orphanet:439746] -xref: ICD10CM:M30.8 {source="Orphanet:439746", source="ORDO:439746/ntbt"} +xref: ICD10CM:M30.8 {source="Orphanet:439746", source="Orphanet:439746/ntbt"} xref: Orphanet:439746 {source="MONDO:equivalentTo"} xref: UMLS:CN237624 {source="MONDO:equivalentTo"} is_a: MONDO:0019170 {source="Orphanet:439746"} ! polyarteritis nodosa @@ -357097,7 +356935,7 @@ def: "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN subset: ordo_clinical_subtype {source="Orphanet:439755"} synonym: "single-organ PAN" EXACT [Orphanet:439755] synonym: "single-organ periarteritis nodosa" EXACT [Orphanet:439755] -xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="ORDO:439755/ntbt", source="Orphanet:439755"} +xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="Orphanet:439755/ntbt", source="Orphanet:439755"} xref: Orphanet:439755 {source="MONDO:equivalentTo"} xref: UMLS:CN242112 {source="MONDO:equivalentTo"} is_a: MONDO:0018593 {source="Orphanet:439755"} ! primary polyarteritis nodosa @@ -357109,7 +356947,7 @@ def: "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvascu subset: ordo_clinical_subtype {source="Orphanet:439762"} synonym: "systemic PAN" EXACT [Orphanet:439762] synonym: "systemic periarteritis nodosa" EXACT [Orphanet:439762] -xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="ORDO:439762/ntbt", source="Orphanet:439762"} +xref: ICD10CM:M30.0 {source="MONDO:subClassOf", source="Orphanet:439762", source="Orphanet:439762/ntbt"} xref: Orphanet:439762 {source="MONDO:equivalentTo"} xref: UMLS:C0031036 {source="MONDO:subClassOf", source="Orphanet:439762"} xref: UMLS:CN242146 {source="MONDO:equivalentTo"} @@ -357140,23 +356978,23 @@ subset: ordo_disease {source="Orphanet:44"} synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559] synonym: "NALD" EXACT ABBREVIATION [Orphanet:44] xref: GARD:0000559 {source="MONDO:obsoleteEquivalent"} -xref: ICD10CM:E71.3 {source="Orphanet:44", source="ORDO:44/attributed", source="ORDO:44/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:44/attributed", source="Orphanet:44/ntbt", source="Orphanet:44"} xref: ICD10CM:E71.511 {source="MONDO:obsoleteEquivalent"} -xref: MESH:D018901 {source="ORDO:44/e", source="Orphanet:44"} +xref: MESH:D018901 {source="Orphanet:44", source="Orphanet:44/e"} xref: NCIT:C99251 {source="MONDO:obsoleteEquivalent"} -xref: OMIM:202370 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:266510 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:601539 {source="MONDO:subClassOf", source="Orphanet:44", source="ORDO:44/ntbt", source="MONDO:directSiblingOf"} -xref: OMIM:614863 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:614867 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:614871 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:614873 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:614877 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:614885 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} -xref: OMIM:614920 {source="Orphanet:44", source="MONDO:superClassOf", source="ORDO:44/btnt"} +xref: OMIM:202370 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:266510 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:601539 {source="MONDO:subClassOf", source="Orphanet:44/ntbt", source="Orphanet:44", source="MONDO:directSiblingOf"} +xref: OMIM:614863 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:614867 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:614871 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:614873 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:614877 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:614885 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} +xref: OMIM:614920 {source="Orphanet:44/btnt", source="Orphanet:44", source="MONDO:superClassOf"} xref: Orphanet:44 {source="MONDO:obsoleteEquivalent"} xref: SCTID:238061001 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0282525 {source="ORDO:44/e", source="Orphanet:44", source="MONDO:obsoleteEquivalent", source="NCIT:C99251"} +xref: UMLS:C0282525 {source="Orphanet:44", source="MONDO:obsoleteEquivalent", source="NCIT:C99251", source="Orphanet:44/e"} property_value: IAO:0000231 "out of scope" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3222 xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy xsd:anyURI {source="GARD:0000559"} @@ -357169,7 +357007,7 @@ name: congenital oculomotor nerve palsy subset: ordo_disease {source="Orphanet:440221"} synonym: "congenital CNIII lesion" EXACT [Orphanet:440221] synonym: "congenital third cranial nerve palsy" EXACT [Orphanet:440221] -xref: ICD10CM:Q07.8 {source="Orphanet:440221", source="ORDO:440221/attributed", source="ORDO:440221/ntbt"} +xref: ICD10CM:Q07.8 {source="Orphanet:440221", source="Orphanet:440221/attributed", source="Orphanet:440221/ntbt"} xref: Orphanet:440221 {source="MONDO:equivalentTo"} is_a: MONDO:0015083 {source="Orphanet:440221"} ! nuclear oculomotor paralysis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -357181,7 +357019,7 @@ name: congenital abducens nerve palsy subset: ordo_disease {source="Orphanet:440233"} synonym: "benign congenital sixth cranial nerve palsy" EXACT [Orphanet:440233] synonym: "congenital CNVI palsy" EXACT [Orphanet:440233] -xref: ICD10CM:Q07.8 {source="Orphanet:440233", source="ORDO:440233/attributed", source="ORDO:440233/ntbt"} +xref: ICD10CM:Q07.8 {source="Orphanet:440233/attributed", source="Orphanet:440233/ntbt", source="Orphanet:440233"} xref: Orphanet:440233 {source="MONDO:equivalentTo"} is_a: MONDO:0015083 {source="Orphanet:440233"} ! nuclear oculomotor paralysis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -357202,7 +357040,7 @@ id: MONDO:0018602 name: necrotizing soft tissue infection subset: ordo_disease {source="Orphanet:440368"} synonym: "NSTI" EXACT ABBREVIATION [Orphanet:440368] -xref: ICD10CM:M72.6 {source="MONDO:relatedTo", source="ORDO:440368/ntbt", source="Orphanet:440368"} +xref: ICD10CM:M72.6 {source="MONDO:relatedTo", source="Orphanet:440368", source="Orphanet:440368/ntbt"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:440368 {source="MONDO:equivalentTo"} @@ -357217,8 +357055,8 @@ id: MONDO:0018603 name: interstitial lung disease due to SP-C deficiency subset: ordo_disease {source="Orphanet:440392"} synonym: "interstitial lung disease due to surfactant protein C deficiency" EXACT [Orphanet:440392] -xref: ICD10CM:J84.8 {source="ORDO:440392/attributed", source="ORDO:440392/ntbt", source="Orphanet:440392"} -xref: OMIM:610913 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", source="ORDO:440392/ntbt", source="Orphanet:440392"} +xref: ICD10CM:J84.8 {source="Orphanet:440392/attributed", source="Orphanet:440392/ntbt", source="Orphanet:440392"} +xref: OMIM:610913 {source="MONDO:subClassOf", source="Orphanet:440392/ntbt", source="MONDO:directSiblingOf", source="Orphanet:440392"} xref: Orphanet:440392 {source="MONDO:equivalentTo"} xref: UMLS:CN237633 {source="MONDO:equivalentTo"} is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis @@ -357232,14 +357070,14 @@ def: "Hereditary nonpolyposis colorectal cancer characterized by the absence of subset: ordo_disease {source="Orphanet:440437"} synonym: "familial colorectal cancer type X" EXACT [NCIT:C120084] synonym: "FCCTX" EXACT ABBREVIATION [NCIT:C120084, Orphanet:440437] -xref: ICD10CM:C18.0 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.1 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.2 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.3 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.4 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.5 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.6 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} -xref: ICD10CM:C18.7 {source="ORDO:440437/attributed", source="ORDO:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.0 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.1 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.2 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.3 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.4 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.5 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.6 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} +xref: ICD10CM:C18.7 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} xref: NCIT:C120084 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:440437 {source="MONDO:equivalentTo"} xref: UMLS:C3896578 {source="NCIT:C120084", source="MONDO:equivalentTo"} @@ -357291,13 +357129,13 @@ synonym: "PAF" EXACT ABBREVIATION [Orphanet:441] synonym: "Pure dysautonomia" EXACT [Orphanet:441] synonym: "Pure idiopatic dysautonomia" EXACT [Orphanet:441] xref: GARD:0010428 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G90.3 {source="ORDO:441/ntbt", source="Orphanet:441"} -xref: MESH:C544351 {source="ORDO:441/e", source="Orphanet:441"} -xref: MESH:D054970 {source="MONDO:equivalentTo", source="ORDO:441/e", source="Orphanet:441"} +xref: ICD10CM:G90.3 {source="Orphanet:441/ntbt", source="Orphanet:441"} +xref: MESH:C544351 {source="Orphanet:441/e", source="Orphanet:441"} +xref: MESH:D054970 {source="Orphanet:441/e", source="MONDO:equivalentTo", source="Orphanet:441"} xref: Orphanet:441 {source="MONDO:equivalentTo"} xref: SCTID:84438001 {source="MONDO:equivalentTo"} -xref: UMLS:C0393911 {source="MONDO:equivalentTo", source="ORDO:441/e", source="Orphanet:441"} -xref: UMLS:C2931939 {source="MONDO:equivalentTo", source="ORDO:441/e", source="Orphanet:441"} +xref: UMLS:C0393911 {source="Orphanet:441/e", source="MONDO:equivalentTo", source="Orphanet:441"} +xref: UMLS:C2931939 {source="Orphanet:441/e", source="MONDO:equivalentTo", source="Orphanet:441"} xref: UMLS:CN205091 {source="MONDO:equivalentTo"} is_a: MONDO:0001292 {source="Orphanet:441"} ! autonomic nervous system disorder is_a: MONDO:0007803 ! multiple system atrophy @@ -357322,7 +357160,7 @@ intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation id: MONDO:0018610 name: early-onset posterior subcapsular cataract subset: ordo_clinical_subtype {source="Orphanet:441447"} -xref: ICD10CM:H26.0 {source="ORDO:441447/attributed", source="ORDO:441447/ntbt", source="Orphanet:441447"} +xref: ICD10CM:H26.0 {source="Orphanet:441447", source="Orphanet:441447/attributed", source="Orphanet:441447/ntbt"} xref: Orphanet:441447 {source="MONDO:equivalentTo"} xref: UMLS:CN237646 {source="MONDO:equivalentTo"} is_a: MONDO:0020377 {source="Orphanet:441447"} ! early-onset partial cataract @@ -357331,7 +357169,7 @@ is_a: MONDO:0020377 {source="Orphanet:441447"} ! early-onset partial cataract id: MONDO:0018611 name: early-onset lamellar cataract subset: ordo_clinical_subtype {source="Orphanet:441452"} -xref: OMIM:613763 {source="MONDO:subClassOf", source="Orphanet:441452", source="ORDO:441452/ntbt"} +xref: OMIM:613763 {source="MONDO:subClassOf", source="Orphanet:441452/ntbt", source="Orphanet:441452"} xref: Orphanet:441452 {source="MONDO:equivalentTo"} xref: UMLS:CN237647 {source="MONDO:equivalentTo"} is_a: MONDO:0013411 ! cataract 16 multiple types @@ -357352,17 +357190,17 @@ synonym: "fetal iodine deficiency syndrome" RELATED [] synonym: "infantile hypothyroidism" RELATED [] xref: DOID:0050328 {source="MONDO:equivalentTo"} xref: GARD:0001487 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E00.0 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"} -xref: ICD10CM:E00.1 {source="ORDO:442/btnt", source="DOID:0050328", source="ORDO:442/specific", source="Orphanet:442"} -xref: ICD10CM:E00.2 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"} -xref: ICD10CM:E00.9 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"} -xref: ICD10CM:E03.0 {source="ORDO:442/btnt", source="ORDO:442/specific", source="Orphanet:442"} -xref: ICD10CM:E03.1 {source="ORDO:442/btnt", source="DOID:0050328", source="ORDO:442/specific", source="Orphanet:442"} +xref: ICD10CM:E00.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} +xref: ICD10CM:E00.1 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="DOID:0050328", source="Orphanet:442"} +xref: ICD10CM:E00.2 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} +xref: ICD10CM:E00.9 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} +xref: ICD10CM:E03.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} +xref: ICD10CM:E03.1 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="DOID:0050328", source="Orphanet:442"} xref: ICD9:243 {source="DOID:0050328", source="linkedlifedata"} xref: ICD9:269.3 {source="linkedlifedata"} xref: ICD9:759.89 {source="linkedlifedata"} -xref: MedDRA:10010510 {source="ORDO:442/e", source="Orphanet:442"} -xref: MESH:D003409 {source="MONDO:equivalentTo", source="DOID:0050328", source="ORDO:442/e", source="Orphanet:442"} +xref: MedDRA:10010510 {source="Orphanet:442/e", source="Orphanet:442"} +xref: MESH:D003409 {source="Orphanet:442/e", source="MONDO:equivalentTo", source="DOID:0050328", source="Orphanet:442"} xref: NCIT:C26734 {source="MONDO:equivalentTo", source="DOID:0050328"} xref: NCIT:C98921 {source="MONDO:otherHierarchy", source="DOID:0050328"} xref: OMIM:218700 {source="MONDO:superClassOf", source="DOID:0050328"} @@ -357386,7 +357224,7 @@ xref: SCTID:267376007 {source="DOID:0050328"} xref: SCTID:267465007 {source="DOID:0050328"} xref: SCTID:3614006 {source="DOID:0050328"} xref: SCTID:75065003 {source="DOID:0050328"} -xref: UMLS:C0010308 {source="MONDO:equivalentTo", source="DOID:0050328", source="ORDO:442/e", source="NCIT:C26734", source="Orphanet:442"} +xref: UMLS:C0010308 {source="Orphanet:442/e", source="MONDO:equivalentTo", source="DOID:0050328", source="NCIT:C26734", source="Orphanet:442"} xref: UMLS:C0342200 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050328"} is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder is_a: MONDO:0005420 {source="DOID:0050328", source="MESH:D003409", source="MONDO:Redundant", source="NCIT:C26734", source="Orphanet:442", source="Orphanet:442/inferred", source="linkedlifedata"} ! hypothyroidism @@ -357401,7 +357239,7 @@ id: MONDO:0018613 name: AH amyloidosis subset: ordo_disease {source="Orphanet:442582"} synonym: "heavy chain amyloidosis" EXACT [Orphanet:442582] -xref: ICD10CM:E85.9 {source="ORDO:442582/ntbt", source="Orphanet:442582"} +xref: ICD10CM:E85.9 {source="Orphanet:442582/ntbt", source="Orphanet:442582"} xref: Orphanet:442582 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:442582"} ! amyloidosis is_a: MONDO:0019724 {source="Orphanet:442582"} ! secondary glomerular disease @@ -357413,23 +357251,23 @@ def: "A rare infantile epilepsy syndrome characterized by early onset of seizure subset: ordo_disease {source="Orphanet:442835"} synonym: "undetermined early-onset epileptic encephalopathy" EXACT CLINGEN_PREFERRED [] synonym: "undetermined EOEE" EXACT [Orphanet:442835] -xref: ICD10CM:G40.4 {source="ORDO:442835/attributed", source="ORDO:442835/ntbt", source="Orphanet:442835"} -xref: OMIM:614558 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:615833 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:615871 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:615905 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:616056 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:616211 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:616339 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:616346 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:616366 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:616409 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:617105 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:617106 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:617132 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:617153 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:617162 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} -xref: OMIM:617166 {source="ORDO:442835/btnt", source="MONDO:superClassOf", source="Orphanet:442835"} +xref: ICD10CM:G40.4 {source="Orphanet:442835/attributed", source="Orphanet:442835/ntbt", source="Orphanet:442835"} +xref: OMIM:614558 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:615833 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:615871 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:615905 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:616056 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:616211 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:616339 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:616346 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:616366 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:616409 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:617105 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:617106 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:617132 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:617153 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:617162 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} +xref: OMIM:617166 {source="MONDO:superClassOf", source="Orphanet:442835/btnt", source="Orphanet:442835"} xref: Orphanet:442835 {source="MONDO:equivalentTo"} is_a: MONDO:0020070 {source="Orphanet:442835"} ! neonatal epilepsy syndrome is_a: MONDO:0020071 {source="Orphanet:442835"} ! infantile epilepsy syndrome @@ -357442,7 +357280,7 @@ def: "Hemicrania continua (HC) is a type of primary headache disorder, which mea subset: gard_rare {source="GARD:0010795"} subset: ordo_disease {source="Orphanet:443070"} xref: GARD:0010795 {source="MONDO:equivalentTo"} -xref: ICD10CM:G44.0 {source="ORDO:443070/ntbt", source="Orphanet:443070"} +xref: ICD10CM:G44.0 {source="Orphanet:443070", source="Orphanet:443070/ntbt"} xref: ICD10CM:G44.51 {source="MONDO:equivalentTo"} xref: ICD9:339.41 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:443070 {source="MONDO:equivalentTo"} @@ -357464,7 +357302,7 @@ synonym: "central serous retinopathy" EXACT [NCIT:C115124] synonym: "CSC" EXACT ABBREVIATION [NCIT:C115124] synonym: "CSCR" EXACT ABBREVIATION [Orphanet:443079] xref: GARD:0000200 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.7 {source="Orphanet:443079", source="ORDO:443079/ntbt"} +xref: ICD10CM:H35.7 {source="Orphanet:443079", source="Orphanet:443079/ntbt"} xref: ICD9:362.41 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D056833 {source="MONDO:equivalentTo"} xref: NCIT:C115124 {source="MONDO:equivalentTo"} @@ -357482,7 +357320,7 @@ def: "Baroreflex failure is a rare disorder that causes fluctuations in blood pr subset: gard_rare {source="GARD:0010664"} subset: ordo_clinical_syndrome {source="Orphanet:443084"} xref: GARD:0010664 {source="MONDO:equivalentTo"} -xref: ICD10CM:G90.4 {source="ORDO:443084/ntbt", source="Orphanet:443084"} +xref: ICD10CM:G90.4 {source="Orphanet:443084", source="Orphanet:443084/ntbt"} xref: Orphanet:443084 {source="MONDO:equivalentTo"} xref: UMLS:CN237655 {source="MONDO:equivalentTo"} is_a: MONDO:0001292 {source="Orphanet:443084"} ! autonomic nervous system disorder @@ -357512,7 +357350,7 @@ replaced_by: MONDO:0005803 id: MONDO:0018620 name: hypothalamic adipsic hypernatraemia syndrome subset: ordo_disease {source="Orphanet:443101"} -xref: ICD10CM:E23.3 {source="Orphanet:443101", source="ORDO:443101/ntbt"} +xref: ICD10CM:E23.3 {source="Orphanet:443101", source="Orphanet:443101/ntbt"} xref: Orphanet:443101 {source="MONDO:equivalentTo"} xref: UMLS:CN237660 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder @@ -357523,7 +357361,7 @@ id: MONDO:0018621 name: lymphoplasmacytic lymphoma without IgM production subset: ordo_disease {source="Orphanet:443159"} synonym: "lymphoplasmacytic lymphoma without Immunoglobulin M production" EXACT [Orphanet:443159] -xref: ICD10CM:C83.0 {source="Orphanet:443159", source="ORDO:443159/ntbt"} +xref: ICD10CM:C83.0 {source="Orphanet:443159/ntbt", source="Orphanet:443159"} xref: Orphanet:443159 {source="MONDO:equivalentTo"} is_a: MONDO:0017594 {source="Orphanet:443159"} ! indolent B-cell non-Hodgkin lymphoma @@ -357541,7 +357379,7 @@ def: "Postpartum psychosis is a rare psychiatric emergency in which symptoms of subset: ordo_disease {source="Orphanet:443173"} synonym: "puerperal psychosis" EXACT [Orphanet:443173] xref: ICD10CM:F53 {source="MONDO:equivalentTo"} -xref: ICD10CM:F53.1 {source="ORDO:443173/ntbt", source="Orphanet:443173"} +xref: ICD10CM:F53.1 {source="Orphanet:443173/ntbt", source="Orphanet:443173"} xref: ICD9:648.44 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:443173 {source="MONDO:equivalentTo"} xref: SCTID:18260003 {source="MONDO:equivalentTo"} @@ -357556,7 +357394,7 @@ id: MONDO:0018624 name: spontaneous intracranial hypotension subset: ordo_disease {source="Orphanet:443180"} synonym: "spontaneous cerebrospinal fluid leak" EXACT [Orphanet:443180] -xref: ICD10CM:G96.0 {source="ORDO:443180/e", source="Orphanet:443180"} +xref: ICD10CM:G96.0 {source="Orphanet:443180", source="Orphanet:443180/e"} xref: Orphanet:443180 {source="MONDO:equivalentTo"} xref: UMLS:C0751731 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:443180"} xref: UMLS:C3544264 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:443180"} @@ -357570,8 +357408,8 @@ id: MONDO:0018625 name: classic stiff person syndrome subset: ordo_clinical_subtype {source="Orphanet:443192"} synonym: "classic SPS" EXACT [Orphanet:443192] -xref: ICD10CM:G25.8 {source="ORDO:443192/ntbt", source="Orphanet:443192"} -xref: OMIM:184850 {source="MONDO:subClassOf", source="ORDO:443192/ntbt", source="Orphanet:443192"} +xref: ICD10CM:G25.8 {source="Orphanet:443192", source="Orphanet:443192/ntbt"} +xref: OMIM:184850 {source="MONDO:subClassOf", source="Orphanet:443192", source="Orphanet:443192/ntbt"} xref: Orphanet:443192 {source="MONDO:equivalentTo"} xref: UMLS:CN237666 {source="MONDO:equivalentTo"} is_a: MONDO:0008491 {source="Orphanet:443192"} ! stiff-person syndrome @@ -357594,10 +357432,10 @@ synonym: "paratyphoid fever B" RELATED [DOID:3055, ICD9CM:002.2, NCIT:C34895] synonym: "paratyphoid fever C" RELATED [DOID:3055, ICD9CM:002.3, NCIT:C34896] xref: DOID:3055 {source="MONDO:equivalentTo", source="EFO:0007420"} xref: EFO:0007420 {source="MONDO:equivalentTo"} -xref: ICD10CM:A01.1 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"} -xref: ICD10CM:A01.2 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"} -xref: ICD10CM:A01.3 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"} -xref: ICD10CM:A01.4 {source="DOID:3055", source="ORDO:443227/btnt", source="Orphanet:443227"} +xref: ICD10CM:A01.1 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} +xref: ICD10CM:A01.2 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} +xref: ICD10CM:A01.3 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} +xref: ICD10CM:A01.4 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} xref: ICD9:002.1 {source="DOID:3055"} xref: ICD9:002.2 {source="DOID:3055"} xref: ICD9:002.3 {source="DOID:3055", source="MONDO:equivalentTo", source="i2s"} @@ -357655,8 +357493,8 @@ name: focal stiff limb syndrome subset: ordo_clinical_subtype {source="Orphanet:443804"} synonym: "focal stiff-person syndrome" EXACT [Orphanet:443804] synonym: "Stiff leg syndrome" EXACT [Orphanet:443804] -xref: ICD10CM:G25.8 {source="ORDO:443804/ntbt", source="Orphanet:443804"} -xref: OMIM:184850 {source="MONDO:subClassOf", source="ORDO:443804/ntbt", source="Orphanet:443804"} +xref: ICD10CM:G25.8 {source="Orphanet:443804", source="Orphanet:443804/ntbt"} +xref: OMIM:184850 {source="MONDO:subClassOf", source="Orphanet:443804", source="Orphanet:443804/ntbt"} xref: Orphanet:443804 {source="MONDO:equivalentTo"} xref: UMLS:CN237672 {source="MONDO:equivalentTo"} is_a: MONDO:0008491 {source="Orphanet:443804"} ! stiff-person syndrome @@ -357701,12 +357539,12 @@ synonym: "hypotrichosis, Marie Unna type" EXACT [Orphanet:444] synonym: "Marie Unna congenital hypotrichosis" EXACT [Orphanet:444] synonym: "MUHH" EXACT ABBREVIATION [Orphanet:444] xref: GARD:0003390 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q84.0 {source="Orphanet:444", source="ORDO:444/attributed", source="ORDO:444/ntbt"} -xref: MESH:C535912 {source="Orphanet:444", source="MONDO:equivalentTo", source="ORDO:444/e"} -xref: OMIM:146550 {source="Orphanet:444", source="MONDO:superClassOf", source="ORDO:444/btnt"} -xref: OMIM:612841 {source="Orphanet:444", source="MONDO:superClassOf", source="ORDO:444/btnt"} +xref: ICD10CM:Q84.0 {source="Orphanet:444", source="Orphanet:444/attributed", source="Orphanet:444/ntbt"} +xref: MESH:C535912 {source="Orphanet:444", source="MONDO:equivalentTo", source="Orphanet:444/e"} +xref: OMIM:146550 {source="Orphanet:444", source="Orphanet:444/btnt", source="MONDO:superClassOf"} +xref: OMIM:612841 {source="Orphanet:444", source="Orphanet:444/btnt", source="MONDO:superClassOf"} xref: Orphanet:444 {source="MONDO:equivalentTo"} -xref: UMLS:C2931059 {source="Orphanet:444", source="MONDO:equivalentTo", source="ORDO:444/e"} +xref: UMLS:C2931059 {source="Orphanet:444", source="MONDO:equivalentTo", source="Orphanet:444/e"} is_a: MONDO:0004907 {source="Orphanet:444"} ! alopecia [Term] @@ -357717,7 +357555,7 @@ synonym: "11q22.2-q22.3 deletion syndrome" EXACT [Orphanet:444002] synonym: "Del(11)(q22.2q22.3)" EXACT [Orphanet:444002] synonym: "monosomy 11q22.2-q22.3" EXACT [Orphanet:444002] synonym: "monosomy 11q22.2q22.3" EXACT [Orphanet:444002] -xref: ICD10CM:Q93.5 {source="Orphanet:444002", source="ORDO:444002/attributed", source="ORDO:444002/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:444002", source="Orphanet:444002/attributed", source="Orphanet:444002/ntbt"} xref: Orphanet:444002 {source="MONDO:equivalentTo"} xref: UMLS:CN237678 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:444002"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -357736,7 +357574,7 @@ def: "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual subset: ordo_malformation_syndrome {source="Orphanet:444051"} synonym: "Del(20)(q11.2)" EXACT [Orphanet:444051] synonym: "monosomy 20q11" EXACT [Orphanet:444051] -xref: ICD10CM:Q93.5 {source="ORDO:444051/attributed", source="ORDO:444051/ntbt", source="Orphanet:444051"} +xref: ICD10CM:Q93.5 {source="Orphanet:444051/attributed", source="Orphanet:444051/ntbt", source="Orphanet:444051"} xref: Orphanet:444051 {source="MONDO:equivalentTo"} xref: UMLS:CN237681 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:444051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -357775,7 +357613,7 @@ id: MONDO:0018635 name: idiopathic phalangeal acro-osteolysis subset: ordo_disease {source="Orphanet:444316"} synonym: "idiopathic phalangeal acroosteolysis" EXACT [Orphanet:444316] -xref: ICD10CM:M89.5 {source="ORDO:444316/ntbt", source="Orphanet:444316"} +xref: ICD10CM:M89.5 {source="Orphanet:444316", source="Orphanet:444316/ntbt"} xref: Orphanet:444316 {source="MONDO:equivalentTo"} is_a: MONDO:0005380 {source="Orphanet:444316"} ! osteonecrosis relationship: has_modifier MONDO:0700005 ! idiopathic @@ -357789,7 +357627,7 @@ synonym: "TPPII deficiency" EXACT [Orphanet:444463] synonym: "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease" EXACT [Orphanet:444463] synonym: "triangle disease" EXACT [Orphanet:444463] synonym: "tripeptidyl-peptidase II deficiency" EXACT [Orphanet:444463] -xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="ORDO:444463/attributed", source="ORDO:444463/ntbt", source="Orphanet:444463"} +xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:444463/attributed", source="Orphanet:444463/ntbt", source="Orphanet:444463"} xref: Orphanet:444463 {source="MONDO:equivalentTo"} xref: UMLS:CN237691 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease @@ -357799,11 +357637,11 @@ id: MONDO:0018637 name: familial chylomicronemia syndrome subset: ordo_disease {source="Orphanet:444490"} xref: DOID:0111417 {source="MONDO:equivalentTo"} -xref: ICD10CM:E78.3 {source="ORDO:444490/ntbt", source="Orphanet:444490", source="ORDO:444490/inclusion"} -xref: OMIM:118830 {source="ORDO:444490/btnt", source="MONDO:superClassOf", source="Orphanet:444490"} -xref: OMIM:207750 {source="ORDO:444490/btnt", source="MONDO:superClassOf", source="Orphanet:444490"} -xref: OMIM:238600 {source="ORDO:444490/btnt", source="MONDO:superClassOf", source="Orphanet:444490"} -xref: OMIM:615947 {source="ORDO:444490/btnt", source="MONDO:superClassOf", source="Orphanet:444490"} +xref: ICD10CM:E78.3 {source="Orphanet:444490/inclusion", source="Orphanet:444490", source="Orphanet:444490/ntbt"} +xref: OMIM:118830 {source="MONDO:superClassOf", source="Orphanet:444490", source="Orphanet:444490/btnt"} +xref: OMIM:207750 {source="MONDO:superClassOf", source="Orphanet:444490", source="Orphanet:444490/btnt"} +xref: OMIM:238600 {source="MONDO:superClassOf", source="Orphanet:444490", source="Orphanet:444490/btnt"} +xref: OMIM:615947 {source="MONDO:superClassOf", source="Orphanet:444490", source="Orphanet:444490/btnt"} xref: Orphanet:444490 {source="MONDO:equivalentTo"} xref: UMLS:CN231410 {source="MONDO:equivalentTo"} is_a: MONDO:0015902 {source="Orphanet:444490"} ! major hypertriglyceridemia @@ -357858,7 +357696,7 @@ subset: ordo_disease {source="Orphanet:447731"} synonym: "MAP3K14 non-severe combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-severe combined immunodeficiency caused by mutation in MAP3K14" EXACT [MONDO:design_pattern] synonym: "primary immunodeficiency with multifaceted aberrant lymphoid immunity" EXACT [Orphanet:447731] -xref: ICD10CM:D81.8 {source="Orphanet:447731", source="ORDO:447731/attributed", source="ORDO:447731/ntbt"} +xref: ICD10CM:D81.8 {source="Orphanet:447731", source="Orphanet:447731/attributed", source="Orphanet:447731/ntbt"} xref: Orphanet:447731 {source="MONDO:equivalentTo"} is_a: MONDO:0018814 {source="MONDO:Redundant", source="Orphanet:447731"} ! non-SCID combined immunodeficiency intersection_of: MONDO:0018814 ! non-SCID combined immunodeficiency @@ -357872,7 +357710,7 @@ id: MONDO:0018643 name: susceptibility to localized juvenile periodontitis subset: ordo_disease {source="Orphanet:447740"} subset: predisposition -xref: ICD10CM:D71 {source="ORDO:447740/attributed", source="ORDO:447740/ntbt", source="Orphanet:447740"} +xref: ICD10CM:D71 {source="Orphanet:447740/attributed", source="Orphanet:447740/ntbt", source="Orphanet:447740"} xref: Orphanet:447740 {source="MONDO:equivalentTo"} is_a: MONDO:0015978 {source="Orphanet:447740"} ! functional neutrophil defect relationship: predisposes_towards MONDO:0005076 ! periodontitis @@ -357883,7 +357721,7 @@ name: autosomal dominant complex spastic paraplegia type 9B comment: Editor note: check this subset: ordo_clinical_subtype {source="Orphanet:447757"} synonym: "AD-SPG9B" EXACT [Orphanet:447757] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:447757", source="ORDO:447757/attributed", source="ORDO:447757/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:447757/attributed", source="Orphanet:447757/ntbt", source="Orphanet:447757"} xref: Orphanet:447757 {source="MONDO:equivalentTo"} xref: UMLS:CN237702 {source="MONDO:equivalentTo"} is_a: MONDO:0015091 {source="Orphanet:447757"} ! autosomal dominant spastic paraplegia type 9 @@ -357892,7 +357730,7 @@ is_a: MONDO:0015091 {source="Orphanet:447757"} ! autosomal dominant spastic para id: MONDO:0018645 name: IgG4-related sclerosing cholangitis subset: ordo_disease {source="Orphanet:447764"} -xref: ICD10CM:K83.0 {source="MONDO:subClassOf", source="Orphanet:447764", source="ORDO:447764/ntbt"} +xref: ICD10CM:K83.0 {source="MONDO:subClassOf", source="Orphanet:447764", source="Orphanet:447764/ntbt"} xref: Orphanet:447764 {source="MONDO:equivalentTo"} xref: SCTID:722870008 {source="MONDO:equivalentTo"} xref: UMLS:C4302109 {source="MONDO:equivalentTo"} @@ -357932,7 +357770,7 @@ property_value: IAO:0000589 "sclerosing cholangitis (disease)" xsd:string id: MONDO:0018647 name: secondary sclerosing cholangitis subset: ordo_disease {source="Orphanet:447774"} -xref: ICD10CM:K83.0 {source="MONDO:subClassOf", source="ORDO:447774/ntbt", source="Orphanet:447774"} +xref: ICD10CM:K83.0 {source="MONDO:subClassOf", source="Orphanet:447774/ntbt", source="Orphanet:447774"} xref: Orphanet:447774 {source="MONDO:equivalentTo"} xref: SCTID:197442005 {source="MONDO:equivalentTo"} xref: UMLS:C0400978 {source="MONDO:equivalentTo"} @@ -357946,7 +357784,7 @@ subset: ordo_disease {source="Orphanet:447777"} synonym: "KTOC" EXACT ABBREVIATION [Orphanet:447777] synonym: "odontogenic Keratocyst" EXACT [NCIT:C54302] synonym: "odontogenic keratocystoma" EXACT [Orphanet:447777] -xref: ICD10CM:D16.4 {source="Orphanet:447777", source="ORDO:447777/ntbt"} +xref: ICD10CM:D16.4 {source="Orphanet:447777/ntbt", source="Orphanet:447777"} xref: NCIT:C54302 {source="MONDO:equivalentTo"} xref: Orphanet:447777 {source="MONDO:equivalentTo"} xref: SCTID:713277006 {source="MONDO:equivalentTo"} @@ -357964,7 +357802,7 @@ subset: obsoletion_candidate subset: ordo_clinical_syndrome {source="Orphanet:447788"} synonym: "cortical visual impairment" EXACT [Orphanet:447788] synonym: "visual cortex disorder" EXACT [NCIT:C35275] -xref: ICD10CM:H47.6 {source="Orphanet:447788", source="ORDO:447788/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:H47.6 {source="Orphanet:447788/ntbt", source="Orphanet:447788", source="MONDO:directSiblingOf"} xref: NCIT:C35275 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:447788 {source="MONDO:obsoleteEquivalent"} xref: SCTID:413924001 {source="MONDO:obsoleteEquivalent"} @@ -358008,10 +357846,10 @@ name: Polymerase proofreading-related adenomatous polyposis subset: ordo_clinical_subtype {source="Orphanet:447877"} synonym: "Polymerase proofreading-related adenomatous polyposis" EXACT CLINGEN_PREFERRED [] synonym: "PPAP" EXACT ABBREVIATION [Orphanet:447877] -xref: ICD10CM:D12.6 {source="Orphanet:447877", source="ORDO:447877/attributed", source="ORDO:447877/ntbt"} +xref: ICD10CM:D12.6 {source="Orphanet:447877", source="Orphanet:447877/attributed", source="Orphanet:447877/ntbt"} xref: NCIT:C162484 {source="MONDO:equivalentTo"} -xref: OMIM:612591 {source="Orphanet:447877", source="MONDO:superClassOf", source="ORDO:447877/btnt"} -xref: OMIM:615083 {source="Orphanet:447877", source="MONDO:superClassOf", source="ORDO:447877/btnt"} +xref: OMIM:612591 {source="Orphanet:447877", source="Orphanet:447877/btnt", source="MONDO:superClassOf"} +xref: OMIM:615083 {source="Orphanet:447877", source="Orphanet:447877/btnt", source="MONDO:superClassOf"} xref: Orphanet:447877 {source="MONDO:equivalentTo"} is_a: MONDO:0016362 {source="Orphanet:447877"} ! attenuated familial adenomatous polyposis @@ -358029,8 +357867,8 @@ relationship: has_modifier MONDO:0700005 ! idiopathic id: MONDO:0018655 name: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome subset: ordo_disease {source="Orphanet:447893"} -xref: ICD10CM:E75.2 {source="Orphanet:447893", source="ORDO:447893/attributed", source="ORDO:447893/ntbt"} -xref: OMIM:607694 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:447893", source="ORDO:447893/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:447893/attributed", source="Orphanet:447893/ntbt", source="Orphanet:447893"} +xref: OMIM:607694 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:447893/ntbt", source="Orphanet:447893"} xref: Orphanet:447893 {source="MONDO:equivalentTo"} xref: UMLS:CN237713 {source="MONDO:equivalentTo"} is_a: MONDO:0019117 {source="MONDO:0017122-obsoleted"} ! genetic nervous system disorder @@ -358043,8 +357881,8 @@ id: MONDO:0018656 name: tremor-ataxia-central hypomyelination syndrome subset: ordo_disease {source="Orphanet:447896"} synonym: "tach syndrome" EXACT [Orphanet:447896] -xref: ICD10CM:E75.2 {source="Orphanet:447896", source="ORDO:447896/attributed", source="ORDO:447896/ntbt"} -xref: OMIM:607694 {source="MONDO:subClassOf", source="Orphanet:447896", source="MONDO:relatedTo", source="ORDO:447896/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:447896", source="Orphanet:447896/attributed", source="Orphanet:447896/ntbt"} +xref: OMIM:607694 {source="MONDO:subClassOf", source="Orphanet:447896", source="MONDO:relatedTo", source="Orphanet:447896/ntbt"} xref: Orphanet:447896 {source="MONDO:equivalentTo"} xref: UMLS:CN237714 {source="MONDO:equivalentTo"} is_a: MONDO:0004884 ! eye degenerative disorder @@ -358078,7 +357916,7 @@ name: 19p13.3 microduplication syndrome def: "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." [Orphanet:447980] subset: ordo_malformation_syndrome {source="Orphanet:447980"} synonym: "dup(19)(p13.13)" EXACT [Orphanet:447980] -xref: OMIM:613638 {source="MONDO:subClassOf", source="ORDO:447980/ntbt", source="Orphanet:447980"} +xref: OMIM:613638 {source="MONDO:subClassOf", source="Orphanet:447980/ntbt", source="Orphanet:447980"} xref: Orphanet:447980 {source="MONDO:equivalentTo"} xref: UMLS:CN237720 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:447980", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -358113,11 +357951,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:448"} synonym: "hemophilia" EXACT CLINGEN_PREFERRED [] xref: GARD:0010418 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MedDRA:10061992 {source="ORDO:448/e", source="Orphanet:448"} +xref: MedDRA:10061992 {source="Orphanet:448", source="Orphanet:448/e"} xref: NCIT:C3093 {source="MONDO:equivalentTo"} xref: Orphanet:448 {source="MONDO:equivalentTo"} xref: SCTID:90935002 {source="MONDO:equivalentTo"} -xref: UMLS:C0684275 {source="ORDO:448/e", source="Orphanet:448", source="MONDO:equivalentTo", source="NCIT:C3093"} +xref: UMLS:C0684275 {source="Orphanet:448", source="MONDO:equivalentTo", source="Orphanet:448/e", source="NCIT:C3093"} is_a: MONDO:0002242 {source="NCIT:C3093"} ! coagulation protein disease relationship: excluded_subClassOf MONDO:0019039 {source="Orphanet:448"} ! obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect @@ -358165,9 +358003,9 @@ def: "Brachyolmia, recessive type is a form of brachyolmia, a group of rare gene subset: ordo_malformation_syndrome {source="Orphanet:448242"} synonym: "brachyolmia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "brachyolmia, Hobaek/Toledo type" EXACT [Orphanet:448242] -xref: ICD10CM:Q76.3 {source="ORDO:448242/attributed", source="ORDO:448242/ntbt", source="Orphanet:448242"} -xref: OMIM:271530 {source="ORDO:448242/btnt", source="MONDO:superClassOf", source="Orphanet:448242"} -xref: OMIM:271630 {source="ORDO:448242/btnt", source="MONDO:superClassOf", source="Orphanet:448242"} +xref: ICD10CM:Q76.3 {source="Orphanet:448242/attributed", source="Orphanet:448242/ntbt", source="Orphanet:448242"} +xref: OMIM:271530 {source="MONDO:superClassOf", source="Orphanet:448242/btnt", source="Orphanet:448242"} +xref: OMIM:271630 {source="MONDO:superClassOf", source="Orphanet:448242/btnt", source="Orphanet:448242"} xref: Orphanet:448242 {source="MONDO:equivalentTo"} xref: UMLS:CN237725 {source="MONDO:equivalentTo"} is_a: MONDO:0015262 {source="MONDO:Redundant", source="Orphanet:448242"} ! brachyolmia @@ -358180,7 +358018,7 @@ name: regressive spondylometaphyseal dysplasia subset: ordo_malformation_syndrome {source="Orphanet:448267"} synonym: "Pelger-Huet anomaly with mild skeletal anomalies" EXACT [OMIM:618019, OMIM:genemap2] synonym: "regressive spondylometaphyseal dysplasia" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q77.8 {source="Orphanet:448267", source="ORDO:448267/attributed", source="ORDO:448267/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:448267/attributed", source="Orphanet:448267/ntbt", source="Orphanet:448267"} xref: OMIM:618019 {source="MONDO:equivalentTo"} xref: Orphanet:448267 {source="MONDO:equivalentTo"} xref: UMLS:CN248525 {source="MONDO:equivalentTo"} @@ -358195,7 +358033,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:448270"} synonym: "ectopia cordis" EXACT [MONDO:ambiguous] synonym: "ectopia cordis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001683 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q24.8 {source="Orphanet:448270", source="ORDO:448270/ntbt"} +xref: ICD10CM:Q24.8 {source="Orphanet:448270/ntbt", source="Orphanet:448270"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D054083 {source="MONDO:equivalentTo"} xref: NCIT:C111643 {source="MONDO:equivalentTo"} @@ -358212,7 +358050,7 @@ name: X-linked acrogigantism due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:448348"} synonym: "familial infantile gigantism due to a point mutation" EXACT [Orphanet:448348] synonym: "X-LAG (X-linked acrogigantism) due to a point mutation" EXACT [Orphanet:448348] -xref: ICD10CM:E22.0 {source="Orphanet:448348", source="ORDO:448348/attributed", source="ORDO:448348/ntbt"} +xref: ICD10CM:E22.0 {source="Orphanet:448348", source="Orphanet:448348/attributed", source="Orphanet:448348/ntbt"} xref: Orphanet:448348 {source="MONDO:equivalentTo"} xref: UMLS:CN237730 {source="MONDO:equivalentTo"} is_a: MONDO:0017581 {source="Orphanet:448348"} ! familial infantile gigantism @@ -358231,17 +358069,17 @@ synonym: "pediatric hepatoblastoma" EXACT [NCIT:C3728] xref: DOID:687 {source="MONDO:equivalentTo"} xref: EFO:1000292 {source="MONDO:equivalentTo"} xref: GARD:0002657 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C22.2 {source="DOID:687", source="ORDO:449/e", source="Orphanet:449"} +xref: ICD10CM:C22.2 {source="DOID:687", source="Orphanet:449", source="Orphanet:449/e"} xref: ICDO:8970/3 {source="NCIT:C3728"} -xref: MedDRA:10062001 {source="ORDO:449/e", source="Orphanet:449"} -xref: MESH:D018197 {source="DOID:687", source="ORDO:449/e", source="Orphanet:449", source="MONDO:equivalentTo"} +xref: MedDRA:10062001 {source="Orphanet:449", source="Orphanet:449/e"} +xref: MESH:D018197 {source="DOID:687", source="Orphanet:449", source="MONDO:equivalentTo", source="Orphanet:449/e"} xref: NCIT:C3728 {source="DOID:687", source="MONDO:equivalentTo", source="EFO:1000292"} -xref: OMIM:114550 {source="MONDO:subClassOf", source="Orphanet:449", source="ORDO:449/ntbt"} +xref: OMIM:114550 {source="MONDO:subClassOf", source="Orphanet:449/ntbt", source="Orphanet:449"} xref: ONCOTREE:LIHB {source="MONDO:equivalentTo"} xref: Orphanet:449 {source="MONDO:equivalentTo"} xref: SCTID:109843000 {source="DOID:687"} xref: SCTID:45024009 {source="DOID:687"} -xref: UMLS:C0206624 {source="DOID:687", source="NCIT:C3728", source="ORDO:449/e", source="Orphanet:449", source="MONDO:equivalentTo"} +xref: UMLS:C0206624 {source="DOID:687", source="NCIT:C3728", source="Orphanet:449", source="MONDO:equivalentTo", source="Orphanet:449/e"} is_a: MONDO:0005564 {source="EFO:1000292", source="NCIT:C3728"} ! embryonal neoplasm is_a: MONDO:0007256 ! hepatocellular carcinoma property_value: confidence "2.6111111111111107" xsd:double @@ -358306,7 +358144,7 @@ synonym: "snake bite poisoning" RELATED [] synonym: "snake venom causing toxic effect" RELATED [] synonym: "snake venom poisoning" RELATED [] synonym: "toxic effect of bite of venomous snake" RELATED [] -xref: ICD10CM:T63.0 {source="ORDO:449285/e", source="Orphanet:449285"} +xref: ICD10CM:T63.0 {source="Orphanet:449285", source="Orphanet:449285/e"} xref: Orphanet:449285 {source="MONDO:equivalentTo"} xref: SCTID:61288004 {source="MONDO:equivalentTo"} xref: UMLS:CN237735 {source="MONDO:equivalentTo"} @@ -358317,8 +358155,8 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare id: MONDO:0018670 name: symptomatic form of fragile X syndrome in female carrier subset: ordo_disease {source="Orphanet:449291"} -xref: ICD10CM:Q99.2 {source="Orphanet:449291", source="ORDO:449291/attributed", source="ORDO:449291/ntbt"} -xref: OMIM:300624 {source="MONDO:subClassOf", source="Orphanet:449291", source="ORDO:449291/ntbt"} +xref: ICD10CM:Q99.2 {source="Orphanet:449291", source="Orphanet:449291/attributed", source="Orphanet:449291/ntbt"} +xref: OMIM:300624 {source="MONDO:subClassOf", source="Orphanet:449291", source="Orphanet:449291/ntbt"} xref: Orphanet:449291 {source="MONDO:equivalentTo"} xref: UMLS:CN237736 {source="MONDO:equivalentTo"} is_a: MONDO:0010383 ! fragile X syndrome @@ -358329,7 +358167,7 @@ property_value: confidence "2.3760683760683765" xsd:double id: MONDO:0018671 name: IgG4-related kidney disease subset: ordo_disease {source="Orphanet:449395"} -xref: ICD10CM:N11.8 {source="ORDO:449395/ntbt", source="Orphanet:449395"} +xref: ICD10CM:N11.8 {source="Orphanet:449395", source="Orphanet:449395/ntbt"} xref: Orphanet:449395 {source="MONDO:equivalentTo"} xref: UMLS:CN237737 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -358341,7 +358179,7 @@ id: MONDO:0018672 name: IgG4-related aortitis subset: ordo_disease {source="Orphanet:449400"} synonym: "IgG4-related periaortitis" EXACT [Orphanet:449400] -xref: ICD10CM:I77.6 {source="Orphanet:449400", source="ORDO:449400/ntbt"} +xref: ICD10CM:I77.6 {source="Orphanet:449400/ntbt", source="Orphanet:449400"} xref: Orphanet:449400 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:449400"} ! IgG4-related disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare @@ -358357,7 +358195,7 @@ synonym: "idiopathic hypertrophic craniospinal pachymeningitis" RELATED [GARD:00 synonym: "idiopathic hypertrophic pachymeningitis" EXACT [Orphanet:449427] synonym: "idiopathic hypertrophic spinal pachymeningitis" RELATED [GARD:0013256] xref: GARD:0013256 {source="MONDO:equivalentTo"} -xref: ICD10CM:G03.9 {source="Orphanet:449427", source="ORDO:449427/ntbt"} +xref: ICD10CM:G03.9 {source="Orphanet:449427/ntbt", source="Orphanet:449427"} xref: Orphanet:449427 {source="MONDO:equivalentTo"} xref: SCTID:762282007 {source="MONDO:equivalentTo"} xref: UMLS:C4545992 {source="MONDO:equivalentTo"} @@ -358375,7 +358213,7 @@ synonym: "IgG4-related sialadenitis" EXACT [Orphanet:449432] synonym: "Kuttner tumor" EXACT [NCIT:C82887] synonym: "Kuttner's tumor" EXACT [NCIT:C82887] synonym: "Küttner tumor" EXACT [Orphanet:449432] -xref: ICD10CM:K11.2 {source="ORDO:449432/ntbt", source="Orphanet:449432"} +xref: ICD10CM:K11.2 {source="Orphanet:449432/ntbt", source="Orphanet:449432"} xref: NCIT:C82887 {source="MONDO:equivalentTo"} xref: Orphanet:449432 {source="MONDO:equivalentTo"} xref: SCTID:448131008 {source="MONDO:equivalentTo"} @@ -358390,7 +358228,7 @@ def: "A IgG4-related disease that involves the eye." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:449563"} synonym: "eye IgG4-related disease" EXACT [MONDO:patterns/location] synonym: "IgG4-related disease of eye" EXACT [] -xref: ICD10CM:H05.1 {source="ORDO:449563/ntbt", source="Orphanet:449563"} +xref: ICD10CM:H05.1 {source="Orphanet:449563", source="Orphanet:449563/ntbt"} xref: Orphanet:449563 {source="MONDO:equivalentTo"} xref: UMLS:CN237741 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder @@ -358408,7 +358246,7 @@ synonym: "eosinophilic angiocentric fibrosis" EXACT [GARD:0002032] synonym: "IgG4-related eosinophilic angiocentric fibrosis" EXACT [Orphanet:449566] synonym: "Sinonasal eosinophilic angiocentric fibrosis" RELATED [GARD:0002032] xref: GARD:0002032 {source="MONDO:equivalentTo"} -xref: ICD10CM:J39.8 {source="ORDO:449566/ntbt", source="Orphanet:449566"} +xref: ICD10CM:J39.8 {source="Orphanet:449566/ntbt", source="Orphanet:449566"} xref: Orphanet:449566 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:449566"} ! IgG4-related disease is_a: MONDO:0024623 {source="Orphanet:449566"} ! otorhinolaryngologic disease @@ -358431,21 +358269,21 @@ synonym: "situs ambiguus" RELATED [DOID:0050545] synonym: "visceral heterotaxy" EXACT [Orphanet:450] xref: DOID:0050545 {source="MONDO:equivalentTo"} xref: EFO:0009081 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q89.3 {source="ORDO:450/nd", source="MONDO:superClassOf", source="Orphanet:450"} -xref: MedDRA:10067265 {source="ORDO:450/e", source="Orphanet:450"} +xref: ICD10CM:Q89.3 {source="MONDO:superClassOf", source="Orphanet:450/nd", source="Orphanet:450"} +xref: MedDRA:10067265 {source="Orphanet:450/e", source="Orphanet:450"} xref: NCIT:C117273 {source="MONDO:equivalentTo"} -xref: OMIM:270100 {source="ORDO:450/btnt", source="MONDO:superClassOf", source="Orphanet:450"} -xref: OMIM:306955 {source="DOID:0050545", source="MONDO:superClassOf", source="ORDO:450/e", source="Orphanet:450"} -xref: OMIM:601086 {source="ORDO:450/btnt", source="MONDO:superClassOf", source="Orphanet:450"} -xref: OMIM:605376 {source="ORDO:450/btnt", source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450"} -xref: OMIM:606325 {source="ORDO:450/btnt", source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450"} -xref: OMIM:613751 {source="ORDO:450/btnt", source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450"} -xref: OMIM:614779 {source="ORDO:450/btnt", source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450"} -xref: OMIM:616749 {source="ORDO:450/btnt", source="MONDO:superClassOf", source="Orphanet:450"} +xref: OMIM:270100 {source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} +xref: OMIM:306955 {source="Orphanet:450/e", source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450"} +xref: OMIM:601086 {source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} +xref: OMIM:605376 {source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} +xref: OMIM:606325 {source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} +xref: OMIM:613751 {source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} +xref: OMIM:614779 {source="DOID:0050545", source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} +xref: OMIM:616749 {source="MONDO:superClassOf", source="Orphanet:450", source="Orphanet:450/btnt"} xref: OMIM:617205 {source="MONDO:superClassOf", source="Orphanet:450"} xref: OMIMPS:306955 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:450 {source="MONDO:equivalentTo", source="DOID:0050545"} -xref: UMLS:C3178805 {source="MONDO:equivalentTo", source="ORDO:450/e", source="Orphanet:450", source="NCIT:C117273"} +xref: UMLS:C3178805 {source="Orphanet:450/e", source="MONDO:equivalentTo", source="Orphanet:450", source="NCIT:C117273"} is_a: MONDO:0002254 {source="NCIT:C117273"} ! syndromic disease is_a: MONDO:0020284 {source="Orphanet:450"} ! heart position anomaly relationship: has_modifier MONDO:0021152 {source="OMIMPS:306955"} ! inherited @@ -358454,7 +358292,7 @@ relationship: has_modifier MONDO:0021152 {source="OMIMPS:306955"} ! inherited id: MONDO:0018678 name: polyclonal hyperviscosity syndrome subset: ordo_clinical_syndrome {source="Orphanet:450322"} -xref: ICD10CM:D89.0 {source="MONDO:relatedTo", source="ORDO:450322/ntbt", source="Orphanet:450322"} +xref: ICD10CM:D89.0 {source="MONDO:relatedTo", source="Orphanet:450322", source="Orphanet:450322/ntbt"} xref: Orphanet:450322 {source="MONDO:equivalentTo"} xref: UMLS:CN237743 {source="MONDO:equivalentTo"} is_a: MONDO:0005570 {source="Orphanet:450322"} ! hematologic disorder @@ -358463,7 +358301,7 @@ is_a: MONDO:0005570 {source="Orphanet:450322"} ! hematologic disorder id: MONDO:0018679 name: primary cutaneous plasmacytosis subset: ordo_disease {source="Orphanet:451602"} -xref: ICD10CM:L98.6 {source="ORDO:451602/ntbt", source="Orphanet:451602"} +xref: ICD10CM:L98.6 {source="Orphanet:451602/ntbt", source="Orphanet:451602"} xref: Orphanet:451602 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0017287 {source="Orphanet:451602"} ! IgG4-related disease @@ -358476,7 +358314,7 @@ subset: ordo_disease {source="Orphanet:451607"} synonym: "lymphadenosis Benigna cutis" EXACT [NCIT:C62776] synonym: "lymphocytoma cutis" EXACT [NCIT:C62776] synonym: "pseudolymphoma of Spiegler" EXACT [NCIT:C62776] -xref: ICD10CM:L98.6 {source="ORDO:451607/ntbt", source="Orphanet:451607"} +xref: ICD10CM:L98.6 {source="Orphanet:451607/ntbt", source="Orphanet:451607"} xref: NCIT:C62776 {source="MONDO:equivalentTo"} xref: Orphanet:451607 {source="MONDO:equivalentTo"} xref: SCTID:128862000 {source="MONDO:equivalentTo"} @@ -358490,7 +358328,7 @@ name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dy subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:453499"} synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" EXACT CLINGEN_PREFERRED [] -xref: OMIM:616580 {source="Orphanet:453499", source="MONDO:superClassOf", source="ORDO:453499/btnt"} +xref: OMIM:616580 {source="Orphanet:453499/btnt", source="Orphanet:453499", source="MONDO:superClassOf"} xref: Orphanet:453499 {source="MONDO:equivalentTo"} xref: UMLS:CN237747 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:453499", source="indirect"} ! syndromic intellectual disability @@ -358527,7 +358365,7 @@ synonym: "fish scale disease, acquired" RELATED [GARD:0000476] synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831] synonym: "ichthyosis, acquired" RELATED [GARD:0000476] xref: GARD:0000476 {source="MONDO:equivalentTo"} -xref: ICD10CM:L85.0 {source="MONDO:equivalentTo", source="ORDO:454/e", source="Orphanet:454"} +xref: ICD10CM:L85.0 {source="Orphanet:454/e", source="MONDO:equivalentTo", source="Orphanet:454"} xref: MESH:C538175 {source="MONDO:equivalentTo"} xref: NCIT:C112831 {source="MONDO:equivalentTo"} xref: Orphanet:454 {source="MONDO:equivalentTo"} @@ -358546,7 +358384,7 @@ name: idiopathic neonatal atrial flutter def: "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." [Orphanet:45452] subset: ordo_disease {source="Orphanet:45452"} synonym: "neonatal cardiac dysrhythmia" EXACT [ICD10CM:P29.1] -xref: ICD10CM:P29.1 {source="ORDO:45452/ntbt", source="MONDO:equivalentTo", source="Orphanet:45452"} +xref: ICD10CM:P29.1 {source="MONDO:equivalentTo", source="Orphanet:45452/ntbt", source="Orphanet:45452"} xref: Orphanet:45452 {source="MONDO:equivalentTo"} xref: SCTID:715560009 {source="MONDO:equivalentTo"} xref: UMLS:CN205105 {source="MONDO:equivalentTo"} @@ -358558,10 +358396,10 @@ id: MONDO:0018685 name: incessant infant ventricular tachycardia def: "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." [Orphanet:45453] subset: ordo_disease {source="Orphanet:45453"} -xref: ICD10CM:I47.2 {source="ORDO:45453/ntbt", source="MONDO:relatedTo", source="Orphanet:45453"} +xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="Orphanet:45453/ntbt", source="Orphanet:45453"} xref: Orphanet:45453 {source="MONDO:equivalentTo"} xref: SCTID:233908008 {source="MONDO:equivalentTo"} -xref: UMLS:C0340487 {source="MONDO:equivalentTo", source="ORDO:45453/e", source="Orphanet:45453"} +xref: UMLS:C0340487 {source="Orphanet:45453/e", source="MONDO:equivalentTo", source="Orphanet:45453"} is_a: MONDO:0016348 {source="Orphanet:45453"} ! non-genetic cardiac rhythm disease [Term] @@ -358573,9 +358411,9 @@ subset: ordo_disease {source="Orphanet:454700"} synonym: "acquired CJD" EXACT [MESH:C538481] synonym: "acquired Creutzfeldt Jacob disease" EXACT [MONDO:patterns/acquired] synonym: "sporadic CJD" RELATED [MESH:C538481] -xref: ICD10CM:A81.0 {source="ORDO:454700/ntbt", source="Orphanet:454700"} +xref: ICD10CM:A81.0 {source="Orphanet:454700", source="Orphanet:454700/ntbt"} xref: MESH:C538481 {source="MONDO:equivalentTo"} -xref: OMIM:123400 {source="MONDO:relatedTo", source="ORDO:454700/ntbt", source="Orphanet:454700", source="MONDO:directSiblingOf"} +xref: OMIM:123400 {source="MONDO:relatedTo", source="Orphanet:454700", source="MONDO:directSiblingOf", source="Orphanet:454700/ntbt"} xref: Orphanet:454700 {source="MONDO:equivalentTo"} xref: UMLS:CN237752 {source="MONDO:equivalentTo"} is_a: MONDO:0005357 {source="MESH:C538481", source="MONDO:Redundant"} ! Creutzfeldt Jacob disease @@ -358593,7 +358431,7 @@ synonym: "progressive spinal muscular atrophy" EXACT [DOID:318] synonym: "pure progressive muscular atrophy" RELATED [DOID:318] xref: DOID:318 {source="MONDO:equivalentTo"} xref: EFO:0008864 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="ORDO:454706/ntbt", source="Orphanet:454706"} +xref: ICD10CM:G12.2 {source="MONDO:subClassOf", source="Orphanet:454706/ntbt", source="Orphanet:454706"} xref: ICD10CM:G12.21 {source="MONDO:subClassOf", source="DOID:318"} xref: ICD9:335.21 {source="DOID:318", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D009134 {source="DOID:318", source="MONDO:directSiblingOf"} @@ -358612,7 +358450,7 @@ id: MONDO:0018688 name: anti-p200 pemphigoid subset: ordo_disease {source="Orphanet:454710"} xref: EFO:0008597 {source="MONDO:equivalentTo"} -xref: ICD10CM:L12.8 {source="Orphanet:454710", source="ORDO:454710/ntbt"} +xref: ICD10CM:L12.8 {source="Orphanet:454710/ntbt", source="Orphanet:454710"} xref: Orphanet:454710 {source="MONDO:equivalentTo"} xref: UMLS:CN237754 {source="MONDO:equivalentTo"} is_a: MONDO:0019337 {source="EFO:0008597/inferred", source="Orphanet:454710"} ! autoimmune bullous skin disease @@ -358631,7 +358469,7 @@ synonym: "plasmacytic leukemia" EXACT [NCIT:C3180] xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"} xref: EFO:0006475 {source="MONDO:equivalentTo"} xref: GARD:0009373 {source="MONDO:equivalentTo"} -xref: ICD10CM:C90.1 {source="DOID:9513", source="Orphanet:454714", source="ORDO:454714/e"} +xref: ICD10CM:C90.1 {source="DOID:9513", source="Orphanet:454714", source="Orphanet:454714/e"} xref: ICD10CM:C90.10 {source="DOID:9513"} xref: ICD9:203.1 {source="DOID:9513", source="EFO:0006475"} xref: ICD9:203.10 {source="MONDO:equivalentTo", source="i2s"} @@ -358672,11 +358510,11 @@ synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon refle xref: DOID:11549 {source="EFO:0004126", source="MONDO:equivalentTo"} xref: EFO:0004126 {source="MONDO:equivalentTo"} xref: GARD:0005749 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:H57.0 {source="Orphanet:454718", source="ORDO:454718/ntbt"} +xref: ICD10CM:H57.0 {source="Orphanet:454718/ntbt", source="Orphanet:454718"} xref: MESH:D000270 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo"} xref: MESH:D015845 {source="EFO:0004126"} xref: NCIT:C34357 {source="DOID:11549", source="MONDO:equivalentTo"} -xref: OMIM:103100 {source="MONDO:relatedTo", source="DOID:11549", source="EFO:0004126", source="Orphanet:454718", source="ORDO:454718/ntbt"} +xref: OMIM:103100 {source="MONDO:relatedTo", source="DOID:11549", source="EFO:0004126", source="Orphanet:454718/ntbt", source="Orphanet:454718"} xref: Orphanet:454718 {source="MONDO:equivalentTo"} xref: SCTID:123051004 {source="DOID:11549"} xref: SCTID:24225004 {source="DOID:11549", source="MONDO:equivalentTo"} @@ -358694,7 +358532,7 @@ replaced_by: MONDO:0006335 id: MONDO:0018692 name: variably protease-sensitive prionopathy subset: ordo_disease {source="Orphanet:454742"} -xref: ICD10CM:A81.8 {source="Orphanet:454742", source="ORDO:454742/ntbt"} +xref: ICD10CM:A81.8 {source="Orphanet:454742/ntbt", source="Orphanet:454742"} xref: Orphanet:454742 {source="MONDO:equivalentTo"} xref: SCTID:721165001 {source="MONDO:equivalentTo"} xref: UMLS:C4303527 {source="MONDO:equivalentTo"} @@ -358718,7 +358556,7 @@ synonym: "H-type tracheoesophageal fistula" EXACT [Orphanet:454750] synonym: "isolated tracheoesophageal fistula" RELATED [Orphanet:454750] synonym: "tracheo-esophageal fistula" EXACT [NCIT:C35080] synonym: "tracheoesophageal fistula" EXACT [NCIT:C35080] -xref: ICD10CM:Q39.2 {source="Orphanet:454750", source="ORDO:454750/e"} +xref: ICD10CM:Q39.2 {source="Orphanet:454750", source="Orphanet:454750/e"} xref: NCIT:C35080 {source="MONDO:equivalentTo"} xref: Orphanet:454750 {source="MONDO:equivalentTo"} xref: UMLS:C0040588 {source="Orphanet:454750", source="MONDO:notFoundInDiseaseSubset"} @@ -358735,7 +358573,7 @@ synonym: "avian flu" EXACT [DOID:4492] synonym: "bird flu" EXACT [DOID:4492] xref: DOID:4492 {source="EFO:0005222", source="MONDO:equivalentTo"} xref: EFO:0005222 {source="MONDO:equivalentTo"} -xref: ICD10CM:J09 {source="ORDO:454836/ntbt", source="Orphanet:454836"} +xref: ICD10CM:J09 {source="Orphanet:454836/ntbt", source="Orphanet:454836"} xref: ICD10CM:J09.X {source="DOID:4492"} xref: MESH:D005585 {source="MONDO:equivalentTo", source="DOID:4492"} xref: Orphanet:454836 {source="MONDO:equivalentTo"} @@ -358755,7 +358593,7 @@ id: MONDO:0018696 name: corticobasal syndrome def: "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." [Orphanet:454887] subset: ordo_disease {source="Orphanet:454887"} -xref: ICD10CM:G31.0 {source="ORDO:454887/attributed", source="ORDO:454887/ntbt", source="Orphanet:454887"} +xref: ICD10CM:G31.0 {source="Orphanet:454887", source="Orphanet:454887/attributed", source="Orphanet:454887/ntbt"} xref: Orphanet:454887 {source="MONDO:equivalentTo"} xref: UMLS:CN237765 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 ! movement disorder @@ -358773,7 +358611,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:456298"} synonym: "Del(1)(p35.2)" EXACT [Orphanet:456298] synonym: "deletion 1p35.2" EXACT [Orphanet:456298] synonym: "monosomy 1p35.2" EXACT [Orphanet:456298] -xref: ICD10CM:Q93.5 {source="ORDO:456298/attributed", source="ORDO:456298/ntbt", source="Orphanet:456298"} +xref: ICD10CM:Q93.5 {source="Orphanet:456298/attributed", source="Orphanet:456298/ntbt", source="Orphanet:456298"} xref: Orphanet:456298 {source="MONDO:equivalentTo"} xref: UMLS:CN237766 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:456298"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -358829,7 +358667,7 @@ def: "A clinicopathologic variant of multicentric Castleman's disease characteri subset: ordo_disease {source="Orphanet:457077"} synonym: "TAFRO syndrome" EXACT [PMID:23801135] synonym: "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome" EXACT [Orphanet:457077] -xref: ICD10CM:M35.8 {source="ORDO:457077/ntbt", source="Orphanet:457077"} +xref: ICD10CM:M35.8 {source="Orphanet:457077/ntbt", source="Orphanet:457077"} xref: Orphanet:457077 {source="MONDO:equivalentTo"} xref: UMLS:CN237773 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-1780-5230"} ! autoimmune disease @@ -358844,7 +358682,7 @@ id: MONDO:0018703 name: isolated splenogonadal fusion subset: ordo_morphological_anomaly {source="Orphanet:457083"} synonym: "SGF" EXACT ABBREVIATION [Orphanet:457083] -xref: ICD10CM:Q89.0 {source="ORDO:457083/ntbt", source="Orphanet:457083"} +xref: ICD10CM:Q89.0 {source="Orphanet:457083", source="Orphanet:457083/ntbt"} xref: Orphanet:457083 {source="MONDO:equivalentTo"} xref: UMLS:CN242095 {source="MONDO:equivalentTo"} is_a: MONDO:0015213 {source="Orphanet:457083"} ! non-syndromic visceral malformation @@ -358876,7 +358714,7 @@ name: syndromic sensorineural deafness due to combined oxidative phosphorylation subset: ordo_disease {source="Orphanet:457223"} synonym: "syndromic sensorineural deafness due to COXPD" EXACT [Orphanet:457223] synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [Orphanet:457223] -xref: ICD10CM:G31.8 {source="ORDO:457223/attributed", source="ORDO:457223/ntbt", source="Orphanet:457223"} +xref: ICD10CM:G31.8 {source="Orphanet:457223/attributed", source="Orphanet:457223/ntbt", source="Orphanet:457223"} xref: Orphanet:457223 {source="MONDO:equivalentTo"} xref: UMLS:CN242144 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -358894,12 +358732,12 @@ name: squamous cell carcinoma of the oral tongue subset: ordo_disease {source="Orphanet:457252"} synonym: "oral tongue squamous cell carcinoma" EXACT [Orphanet:457252] synonym: "OTSCC" EXACT ABBREVIATION [Orphanet:457252] -xref: ICD10CM:C02.0 {source="ORDO:457252/btnt", source="Orphanet:457252"} -xref: ICD10CM:C02.1 {source="ORDO:457252/btnt", source="Orphanet:457252"} -xref: ICD10CM:C02.2 {source="ORDO:457252/btnt", source="Orphanet:457252"} -xref: ICD10CM:C02.3 {source="ORDO:457252/btnt", source="Orphanet:457252"} -xref: ICD10CM:C02.4 {source="ORDO:457252/btnt", source="Orphanet:457252"} -xref: ICD10CM:C02.8 {source="ORDO:457252/btnt", source="Orphanet:457252"} +xref: ICD10CM:C02.0 {source="Orphanet:457252", source="Orphanet:457252/btnt"} +xref: ICD10CM:C02.1 {source="Orphanet:457252", source="Orphanet:457252/btnt"} +xref: ICD10CM:C02.2 {source="Orphanet:457252", source="Orphanet:457252/btnt"} +xref: ICD10CM:C02.3 {source="Orphanet:457252", source="Orphanet:457252/btnt"} +xref: ICD10CM:C02.4 {source="Orphanet:457252", source="Orphanet:457252/btnt"} +xref: ICD10CM:C02.8 {source="Orphanet:457252", source="Orphanet:457252/btnt"} xref: Orphanet:457252 {source="MONDO:equivalentTo"} xref: UMLS:CN242132 {source="MONDO:equivalentTo"} is_a: MONDO:0000500 ! tongue squamous cell carcinoma @@ -358910,7 +358748,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0017371"} ! rare id: MONDO:0018709 name: X-linked intellectual disability-hypotonia-movement disorder syndrome subset: ordo_disease {source="Orphanet:457260"} -xref: OMIM:300958 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:457260/ntbt", source="Orphanet:457260"} +xref: OMIM:300958 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:457260", source="Orphanet:457260/ntbt"} xref: Orphanet:457260 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:457260"} ! X-linked syndromic intellectual disability property_value: confidence "5.6923076923076925" xsd:double @@ -358919,7 +358757,7 @@ property_value: confidence "5.6923076923076925" xsd:double id: MONDO:0018710 name: megalencephaly-severe kyphoscoliosis-overgrowth syndrome subset: ordo_malformation_syndrome {source="Orphanet:457359"} -xref: OMIM:617011 {source="MONDO:subClassOf", source="Orphanet:457359", source="ORDO:457359/ntbt"} +xref: OMIM:617011 {source="MONDO:subClassOf", source="Orphanet:457359", source="Orphanet:457359/ntbt"} xref: Orphanet:457359 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457359", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0014863 ! macrocephaly, dysmorphic facies, and psychomotor retardation @@ -358944,7 +358782,7 @@ name: composite hemangioendothelioma def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." [NCIT:P378] subset: ordo_disease {source="Orphanet:458758"} synonym: "composite hemangioendothelioma" EXACT [NCIT:C45475] -xref: ICD10CM:D18.0 {source="Orphanet:458758", source="ORDO:458758/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:458758/ntbt", source="Orphanet:458758"} xref: NCIT:C45475 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:458758 {source="MONDO:equivalentTo"} xref: SCTID:403984006 {source="MONDO:equivalentTo"} @@ -358961,7 +358799,7 @@ def: "An intermediate, locally aggressive and rarely metastasizing blood vessel subset: ordo_disease {source="Orphanet:458763"} synonym: "hobnail hemangioendothelioma" EXACT [NCIT:C27511] synonym: "retiform hemangioendothelioma" EXACT [NCIT:C27511] -xref: ICD10CM:D18.0 {source="ORDO:458763/ntbt", source="Orphanet:458763"} +xref: ICD10CM:D18.0 {source="Orphanet:458763/ntbt", source="Orphanet:458763"} xref: NCIT:C27511 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:458763 {source="MONDO:equivalentTo"} xref: SCTID:403982005 {source="MONDO:equivalentTo"} @@ -358981,7 +358819,7 @@ synonym: "malignant endothelial papillary angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary Endovascular angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526] synonym: "pila" EXACT [NCIT:C7526] -xref: ICD10CM:D18.0 {source="Orphanet:458768", source="ORDO:458768/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:458768/ntbt", source="Orphanet:458768"} xref: ICDO:9135/1 {source="NCIT:C7526"} xref: NCIT:C7526 {source="MONDO:equivalentTo"} xref: Orphanet:458768 {source="MONDO:equivalentTo"} @@ -359016,7 +358854,7 @@ name: partially involuting congenital hemangioma def: "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" [https://doi.org/10.1016/j.jaad.2013.09.018] subset: ordo_disease {source="Orphanet:458785"} synonym: "PICH" EXACT ABBREVIATION [https://doi.org/10.1016/j.jaad.2013.09.018] -xref: ICD10CM:D18.0 {source="ORDO:458785/ntbt", source="Orphanet:458785"} +xref: ICD10CM:D18.0 {source="Orphanet:458785/ntbt", source="Orphanet:458785"} xref: Orphanet:458785 {source="MONDO:equivalentTo"} is_a: MONDO:0018715 {source="Orphanet:458785"} ! congenital hemangioma @@ -359025,7 +358863,7 @@ id: MONDO:0018717 name: mixed cystic lymphatic malformation subset: ordo_malformation_syndrome {source="Orphanet:458792"} synonym: "mixed cystic lymphangioma" EXACT [Orphanet:458792] -xref: ICD10CM:D18.1 {source="ORDO:458792/ntbt", source="Orphanet:458792"} +xref: ICD10CM:D18.1 {source="Orphanet:458792", source="Orphanet:458792/ntbt"} xref: Orphanet:458792 {source="MONDO:equivalentTo"} is_a: MONDO:0018720 {source="Orphanet:458792"} ! common cystic lymphatic malformation @@ -359115,7 +358953,7 @@ name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome subset: ordo_malformation_syndrome {source="Orphanet:459074"} synonym: "7q36.3 microduplication syndrome" EXACT [Orphanet:459074] synonym: "dup(7)(q36.3)" EXACT [Orphanet:459074] -xref: ICD10CM:Q04.0 {source="ORDO:459074/attributed", source="ORDO:459074/ntbt", source="Orphanet:459074"} +xref: ICD10CM:Q04.0 {source="Orphanet:459074", source="Orphanet:459074/attributed", source="Orphanet:459074/ntbt"} xref: Orphanet:459074 {source="MONDO:equivalentTo"} xref: UMLS:CN242137 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459074", source="indirect"} ! syndromic intellectual disability @@ -359211,7 +359049,7 @@ subset: ordo_disease {source="Orphanet:464318"} synonym: "verrucous keratotic hemangioma" EXACT [MONDO:0003106, NCIT:C4299] synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [DOID:470] xref: DOID:470 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.0 {source="ORDO:464318/ntbt", source="Orphanet:464318"} +xref: ICD10CM:D18.0 {source="Orphanet:464318/ntbt", source="Orphanet:464318"} xref: ICDO:9142/0 {source="NCIT:C4299"} xref: NCIT:C4299 {source="MONDO:equivalentTo", source="DOID:470"} xref: Orphanet:464318 {source="MONDO:equivalentTo"} @@ -359236,7 +359074,7 @@ synonym: "MLT1" EXACT ABBREVIATION [NCIT:C60672] synonym: "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele" EXACT [NCIT:C60672] synonym: "multifocal lymphangioendotheliomatosis with thrombocytopenia" EXACT [Orphanet:464321] xref: GARD:0010467 {source="MONDO:equivalentTo"} -xref: ICD10CM:D18.1 {source="Orphanet:464321", source="ORDO:464321/ntbt"} +xref: ICD10CM:D18.1 {source="Orphanet:464321/ntbt", source="Orphanet:464321"} xref: NCIT:C60672 {source="MONDO:equivalentTo"} xref: Orphanet:464321 {source="MONDO:equivalentTo"} xref: UMLS:CN242151 {source="MONDO:equivalentTo"} @@ -359249,7 +359087,7 @@ def: "A generalized lymphatic anomaly characterized by kaposiform spindled lymph comment: Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784] subset: ordo_disease {source="Orphanet:464329"} synonym: "KLA" BROAD ABBREVIATION [PMID:24252784] -xref: ICD10CM:D18.1 {source="ORDO:464329/ntbt", source="Orphanet:464329"} +xref: ICD10CM:D18.1 {source="Orphanet:464329/ntbt", source="Orphanet:464329"} xref: Orphanet:464329 {source="MONDO:equivalentTo"} is_a: MONDO:0024296 {source="Orphanet:464329"} ! vascular neoplasm relationship: disease_shares_features_of MONDO:0016236 ! kaposiform hemangioendothelioma @@ -359262,7 +359100,7 @@ subset: ordo_disease {source="Orphanet:464343"} synonym: "caps" EXACT [Orphanet:464343] synonym: "catastrophic APS" EXACT [Orphanet:464343] xref: GARD:0009820 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.6 {source="Orphanet:464343", source="ORDO:464343/ntbt"} +xref: ICD10CM:D68.6 {source="Orphanet:464343/ntbt", source="Orphanet:464343"} xref: ICD9:289.81 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:464343 {source="MONDO:equivalentTo"} xref: SCTID:609329007 {source="MONDO:equivalentTo"} @@ -359275,7 +359113,7 @@ id: MONDO:0018738 name: benign metanephric tumour def: "A benign neoplasm that involves the metanephros." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:464359"} -xref: ICD10CM:D30.0 {source="ORDO:464359/ntbt", source="Orphanet:464359"} +xref: ICD10CM:D30.0 {source="Orphanet:464359", source="Orphanet:464359/ntbt"} xref: Orphanet:464359 {source="MONDO:equivalentTo"} xref: UMLS:CN242075 {source="MONDO:equivalentTo"} is_a: MONDO:0021163 {source="Orphanet:464359"} ! kidney neoplasm @@ -359287,7 +359125,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0019749"} ! rare id: MONDO:0018739 name: neonatal alloimmune neutropenia subset: ordo_disease {source="Orphanet:464370"} -xref: ICD10CM:P61.5 {source="ORDO:464370/ntbt", source="MONDO:relatedTo", source="Orphanet:464370"} +xref: ICD10CM:P61.5 {source="MONDO:relatedTo", source="Orphanet:464370/ntbt", source="Orphanet:464370"} xref: Orphanet:464370 {source="MONDO:equivalentTo"} xref: SCTID:14333004 {source="MONDO:equivalentTo"} xref: UMLS:C0272176 {source="MONDO:equivalentTo"} @@ -359300,7 +359138,7 @@ def: "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine a subset: ordo_disease {source="Orphanet:464453"} synonym: "acquired methemoglobinemia" EXACT [MONDO:patterns/acquired, Orphanet:464453] synonym: "drug induced methemoglobinemia" EXACT [NCIT:C101045] -xref: ICD10CM:D74.8 {source="Orphanet:464453", source="ORDO:464453/ntbt"} +xref: ICD10CM:D74.8 {source="Orphanet:464453/ntbt", source="Orphanet:464453"} xref: NCIT:C101045 {source="MONDO:equivalentTo"} xref: Orphanet:464453 {source="MONDO:equivalentTo"} xref: SCTID:191390009 {source="MONDO:equivalentTo"} @@ -359365,9 +359203,9 @@ name: superficial pemphigus def: "Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." [Orphanet:46485] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:46485"} -xref: ICD10CM:L10.2 {source="ORDO:46485/btnt", source="Orphanet:46485"} -xref: ICD10CM:L10.3 {source="ORDO:46485/btnt", source="Orphanet:46485"} -xref: ICD10CM:L10.4 {source="ORDO:46485/btnt", source="MONDO:superClassOf", source="Orphanet:46485"} +xref: ICD10CM:L10.2 {source="Orphanet:46485", source="Orphanet:46485/btnt"} +xref: ICD10CM:L10.3 {source="Orphanet:46485", source="Orphanet:46485/btnt"} +xref: ICD10CM:L10.4 {source="MONDO:superClassOf", source="Orphanet:46485", source="Orphanet:46485/btnt"} xref: Orphanet:46485 {source="MONDO:equivalentTo"} xref: UMLS:CN227541 {source="MONDO:equivalentTo"} is_a: MONDO:0019337 {source="Orphanet:46485"} ! autoimmune bullous skin disease @@ -359391,13 +359229,13 @@ synonym: "ocular pemphigus" RELATED [DOID:11656] xref: DOID:11656 {source="EFO:1000680", source="MONDO:equivalentTo"} xref: EFO:1000680 {source="MONDO:equivalentTo"} xref: GARD:0005913 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L12.1 {source="DOID:11656", source="ORDO:46486/ntbt", source="Orphanet:46486"} +xref: ICD10CM:L12.1 {source="DOID:11656", source="Orphanet:46486/ntbt", source="Orphanet:46486"} xref: ICD9:694.6 {source="DOID:11656"} xref: ICD9:694.61 {source="DOID:11656", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10057052 {source="ORDO:46486/e", source="Orphanet:46486"} +xref: MedDRA:10057052 {source="Orphanet:46486/e", source="Orphanet:46486"} xref: MESH:D010390 {source="DOID:11656"} xref: NCIT:C34907 {source="DOID:11656", source="MONDO:equivalentTo"} -xref: OMIM:164185 {source="MONDO:subClassOf", source="ORDO:46486/ntbt", source="MONDO:superClassOf", source="Orphanet:46486"} +xref: OMIM:164185 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:46486/ntbt", source="Orphanet:46486"} xref: Orphanet:46486 {source="MONDO:equivalentTo"} xref: SCTID:193905009 {source="DOID:11656"} xref: SCTID:194590009 {source="DOID:11656"} @@ -359425,10 +359263,10 @@ synonym: "epidermolysis bullosa Aquisita" EXACT [NCIT:C84690] xref: DOID:4313 {source="EFO:1000691", source="MONDO:equivalentTo"} xref: EFO:1000691 {source="MONDO:equivalentTo"} xref: GARD:0006360 {source="MONDO:equivalentTo"} -xref: ICD10CM:L12.3 {source="DOID:4313", source="MONDO:equivalentTo", source="ORDO:46487/e", source="Orphanet:46487"} +xref: ICD10CM:L12.3 {source="Orphanet:46487/e", source="DOID:4313", source="MONDO:equivalentTo", source="Orphanet:46487"} xref: ICD10CM:L12.30 {source="DOID:4313"} xref: ICD9:695.19 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056508 {source="ORDO:46487/e", source="Orphanet:46487"} +xref: MedDRA:10056508 {source="Orphanet:46487/e", source="Orphanet:46487"} xref: MESH:D016107 {source="DOID:4313", source="MONDO:equivalentTo"} xref: NCIT:C84690 {source="DOID:4313", source="MONDO:equivalentTo"} xref: Orphanet:46487 {source="MONDO:equivalentTo", source="GARD:0006360"} @@ -359448,12 +359286,12 @@ name: linear IgA Dermatosis def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." [MESH:D062027] subset: ordo_disease {source="Orphanet:46488"} xref: GARD:0010960 {source="MONDO:equivalentTo"} -xref: ICD10CM:L10.8 {source="ORDO:46488/ntbt", source="Orphanet:46488"} -xref: MedDRA:10024515 {source="ORDO:46488/e", source="Orphanet:46488"} +xref: ICD10CM:L10.8 {source="Orphanet:46488/ntbt", source="Orphanet:46488"} +xref: MedDRA:10024515 {source="Orphanet:46488/e", source="Orphanet:46488"} xref: MESH:D062027 {source="MONDO:equivalentTo"} xref: Orphanet:46488 {source="MONDO:equivalentTo"} xref: SCTID:95330001 {source="MONDO:equivalentTo"} -xref: UMLS:C0406650 {source="MONDO:equivalentTo", source="ORDO:46488/e", source="Orphanet:46488"} +xref: UMLS:C0406650 {source="Orphanet:46488/e", source="MONDO:equivalentTo", source="Orphanet:46488"} is_a: MONDO:0019337 {source="Orphanet:46488"} ! autoimmune bullous skin disease [Term] @@ -359462,12 +359300,12 @@ name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome def: "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." [Orphanet:46532] subset: ordo_disease {source="Orphanet:46532"} synonym: "HPFH-beta-thalassemia syndrome" EXACT [Orphanet:46532] -xref: HGNC:3627 {source="ORDO:46532/btnt", source="Orphanet:46532"} -xref: HGNC:5153 {source="ORDO:46532/btnt", source="Orphanet:46532"} -xref: ICD10CM:D56.4 {source="ORDO:46532/e", source="ORDO:46532/specific", source="Orphanet:46532"} -xref: OMIM:141749 {source="ORDO:46532/btnt", source="MONDO:relatedTo", source="Orphanet:46532"} -xref: OMIM:142470 {source="ORDO:46532/btnt", source="MONDO:relatedTo", source="Orphanet:46532"} -xref: OMIM:613566 {source="ORDO:46532/btnt", source="MONDO:relatedTo", source="Orphanet:46532"} +xref: HGNC:3627 {source="Orphanet:46532/btnt", source="Orphanet:46532"} +xref: HGNC:5153 {source="Orphanet:46532/btnt", source="Orphanet:46532"} +xref: ICD10CM:D56.4 {source="Orphanet:46532/specific", source="Orphanet:46532/e", source="Orphanet:46532"} +xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} +xref: OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} +xref: OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} xref: Orphanet:46532 {source="MONDO:equivalentTo"} xref: UMLS:CN205122 {source="MONDO:equivalentTo"} is_a: MONDO:0017145 {source="Orphanet:46532"} ! beta-thalassemia and related diseases @@ -359498,7 +359336,7 @@ id: MONDO:0018752 name: exercise-induced malignant hyperthermia subset: ordo_disease {source="Orphanet:466650"} synonym: "Exertional heat stroke" EXACT [Orphanet:466650] -xref: ICD10CM:T88.3 {source="ORDO:466650/ntbt", source="Orphanet:466650"} +xref: ICD10CM:T88.3 {source="Orphanet:466650/ntbt", source="Orphanet:466650"} xref: Orphanet:466650 {source="MONDO:equivalentTo"} xref: SCTID:735907005 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder @@ -359520,7 +359358,7 @@ is_obsolete: true id: MONDO:0018754 name: cyanide poisoning subset: ordo_clinical_situation {source="Orphanet:466670"} -xref: ICD10CM:T65.0 {source="Orphanet:466670", source="ORDO:466670/e"} +xref: ICD10CM:T65.0 {source="Orphanet:466670/e", source="Orphanet:466670"} xref: ICD9:989.0 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:466670 {source="MONDO:equivalentTo"} xref: SCTID:66207005 {source="MONDO:equivalentTo"} @@ -359535,7 +359373,7 @@ subset: ordo_disease {source="Orphanet:466677"} synonym: "poisoning caused by scorpion venom" EXACT [] synonym: "poisoning due to scorpion venom" EXACT [] synonym: "toxic effect of venom of scorpion" EXACT [] -xref: ICD10CM:T63.2 {source="ORDO:466677/e", source="Orphanet:466677"} +xref: ICD10CM:T63.2 {source="Orphanet:466677", source="Orphanet:466677/e"} xref: Orphanet:466677 {source="MONDO:equivalentTo"} xref: SCTID:217670007 {source="MONDO:equivalentTo"} xref: UMLS:CN242103 {source="MONDO:equivalentTo"} @@ -359548,7 +359386,7 @@ name: euthyroid Graves orbitopathy comment: Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970 subset: ordo_disease {source="Orphanet:466682"} synonym: "euthyroid Graves ophthalmopathy" EXACT [Orphanet:466682] -xref: ICD10CM:H05.2 {source="ORDO:466682/ntbt", source="Orphanet:466682"} +xref: ICD10CM:H05.2 {source="Orphanet:466682/ntbt", source="Orphanet:466682"} xref: Orphanet:466682 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease or disorder is_a: MONDO:0007179 {source="PMID:28427469"} ! autoimmune disease @@ -359560,7 +359398,7 @@ id: MONDO:0018757 name: supratip dysplasia def: "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." [Orphanet:466695] subset: ordo_morphological_anomaly {source="Orphanet:466695"} -xref: ICD10CM:J34.8 {source="Orphanet:466695", source="ORDO:466695/ntbt"} +xref: ICD10CM:J34.8 {source="Orphanet:466695", source="Orphanet:466695/ntbt"} xref: Orphanet:466695 {source="MONDO:equivalentTo"} is_a: MONDO:0015503 {source="Orphanet:466695"} ! nose and cavum anomaly @@ -359569,9 +359407,9 @@ id: MONDO:0018758 name: familial patent arterial duct def: "Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." [Orphanet:466729] subset: ordo_morphological_anomaly {source="Orphanet:466729"} -xref: OMIM:607411 {source="ORDO:466729/btnt", source="MONDO:superClassOf", source="Orphanet:466729"} -xref: OMIM:617035 {source="ORDO:466729/btnt", source="MONDO:superClassOf", source="Orphanet:466729"} -xref: OMIM:617039 {source="ORDO:466729/btnt", source="MONDO:superClassOf", source="Orphanet:466729"} +xref: OMIM:607411 {source="MONDO:superClassOf", source="Orphanet:466729/btnt", source="Orphanet:466729"} +xref: OMIM:617035 {source="MONDO:superClassOf", source="Orphanet:466729/btnt", source="Orphanet:466729"} +xref: OMIM:617039 {source="MONDO:superClassOf", source="Orphanet:466729/btnt", source="Orphanet:466729"} xref: Orphanet:466729 {source="MONDO:equivalentTo"} xref: UMLS:CN242171 {source="MONDO:equivalentTo"} is_a: MONDO:0017131 {source="Orphanet:466729"} ! genetic cardiac anomaly @@ -359616,7 +359454,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:467"} synonym: "congenital combined pituitary hormone deficiency" EXACT [Orphanet:467] synonym: "congenital hypopituitarism" EXACT [Orphanet:467] -xref: ICD10CM:E23.0 {source="Orphanet:467", source="MONDO:relatedTo", source="ORDO:467/attributed", source="ORDO:467/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:467", source="MONDO:relatedTo", source="Orphanet:467/attributed", source="Orphanet:467/ntbt"} xref: Orphanet:467 {source="MONDO:equivalentTo"} is_a: MONDO:0019824 {source="Orphanet:467"} ! non-acquired pituitary hormone deficiency @@ -359676,9 +359514,9 @@ synonym: "trimethylaminuria" EXACT [OMIM:602079, OMIM:genemap2] xref: DOID:0080361 {source="MONDO:equivalentTo"} xref: GARD:0006447 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: HP:0003614 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E88.8 {source="ORDO:468726/ntbt", source="Orphanet:468726", source="ORDO:468726/inclusion"} +xref: ICD10CM:E88.8 {source="Orphanet:468726/inclusion", source="Orphanet:468726", source="Orphanet:468726/ntbt"} xref: MESH:C536561 {source="MONDO:equivalentTo"} -xref: OMIM:602079 {source="ORDO:468726/ntbt", source="MONDO:equivalentTo", source="Orphanet:468726"} +xref: OMIM:602079 {source="MONDO:equivalentTo", source="Orphanet:468726", source="Orphanet:468726/ntbt"} xref: Orphanet:35056 {source="OMIM:602079"} xref: Orphanet:468726 {source="MONDO:equivalentTo"} is_a: MONDO:0019189 {source="Orphanet:468726"} ! inborn disorder of amino acid and other organic acid metabolism @@ -359700,14 +359538,14 @@ synonym: "FCAS" EXACT ABBREVIATION [Orphanet:47045] synonym: "FCU" EXACT ABBREVIATION [Orphanet:47045] xref: DOID:0090061 {source="MONDO:equivalentTo"} xref: GARD:0009535 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L50.2 {source="ORDO:47045/ntbt", source="Orphanet:47045", source="DOID:0090061", source="ORDO:47045/inclusion"} -xref: MedDRA:10064570 {source="ORDO:47045/e", source="Orphanet:47045"} +xref: ICD10CM:L50.2 {source="Orphanet:47045/inclusion", source="Orphanet:47045/ntbt", source="Orphanet:47045", source="DOID:0090061"} +xref: MedDRA:10064570 {source="Orphanet:47045/e", source="Orphanet:47045"} xref: NCIT:C119053 {source="MONDO:equivalentTo"} -xref: OMIM:120100 {source="ORDO:47045/btnt", source="MONDO:superClassOf", source="Orphanet:47045"} -xref: OMIM:616115 {source="ORDO:47045/btnt", source="MONDO:superClassOf", source="Orphanet:47045"} +xref: OMIM:120100 {source="MONDO:superClassOf", source="Orphanet:47045/btnt", source="Orphanet:47045"} +xref: OMIM:616115 {source="MONDO:superClassOf", source="Orphanet:47045/btnt", source="Orphanet:47045"} xref: OMIMPS:120100 {source="MONDO:equivalentTo", source="DOID:0090061"} xref: Orphanet:47045 {source="MONDO:equivalentTo", source="DOID:0090061"} -xref: UMLS:C0343068 {source="MONDO:equivalentTo", source="ORDO:47045/e", source="Orphanet:47045", source="NCIT:C119053"} +xref: UMLS:C0343068 {source="Orphanet:47045/e", source="MONDO:equivalentTo", source="Orphanet:47045", source="NCIT:C119053"} xref: UMLS:CN230757 {source="MONDO:equivalentTo"} is_a: MONDO:0016168 {source="Orphanet:47045"} ! cryopyrin-associated periodic syndrome is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119053", source="Orphanet:47045/inferred", source="PMID:23827249", source="indirect"} ! autoinflammatory syndrome @@ -359727,16 +359565,16 @@ synonym: "Isosporosis" EXACT [DOID:2112] xref: DOID:2112 {source="MONDO:equivalentTo", source="EFO:0007232"} xref: EFO:0007232 {source="MONDO:equivalentTo"} xref: GARD:0003033 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:A07.3 {source="DOID:2112", source="MONDO:equivalentTo", source="ORDO:472/e", source="Orphanet:472"} -xref: MedDRA:10023076 {source="ORDO:472/e", source="Orphanet:472"} -xref: MESH:D021865 {source="DOID:2112", source="MONDO:equivalentTo", source="ORDO:472/e", source="Orphanet:472", source="EFO:0007232"} +xref: ICD10CM:A07.3 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472"} +xref: MedDRA:10023076 {source="Orphanet:472/e", source="Orphanet:472"} +xref: MESH:D021865 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472", source="EFO:0007232"} xref: NCIT:C4076 {source="DOID:2112", source="MONDO:equivalentTo"} xref: Orphanet:472 {source="MONDO:equivalentTo"} xref: SCTID:240373006 {source="DOID:2112"} xref: SCTID:360427001 {source="DOID:2112"} xref: SCTID:371423007 {source="DOID:2112", source="MONDO:equivalentTo"} xref: SCTID:73034009 {source="DOID:2112"} -xref: UMLS:C0311386 {source="DOID:2112", source="NCIT:C4076", source="MONDO:equivalentTo", source="ORDO:472/e", source="Orphanet:472"} +xref: UMLS:C0311386 {source="Orphanet:472/e", source="DOID:2112", source="NCIT:C4076", source="MONDO:equivalentTo", source="Orphanet:472"} is_a: MONDO:0005135 {source="DOID:2112/inferred", source="EFO:0007232", source="MESH:D021865/inferred", source="MONDO:Redundant", source="NCIT:C4076", source="Orphanet:472", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease is_a: MONDO:0005707 {source="DOID:2112", source="MESH:D021865", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis intersection_of: MONDO:0005550 ! infectious disease @@ -359762,23 +359600,23 @@ synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [DOID: synonym: "thoracic pelvic phalangeal dystrophy" EXACT [DOID:0050592, PMID:6636109] xref: DOID:0050592 {source="MONDO:equivalentTo"} xref: GARD:0003049 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.2 {source="ORDO:474/inclusion", source="ORDO:474/ntbt", source="Orphanet:474", source="DOID:0050592"} -xref: MedDRA:10057621 {source="ORDO:474/e", source="Orphanet:474"} -xref: MESH:C537571 {source="MONDO:equivalentTo", source="ORDO:474/e", source="Orphanet:474"} +xref: ICD10CM:Q77.2 {source="Orphanet:474/ntbt", source="Orphanet:474/inclusion", source="Orphanet:474", source="DOID:0050592"} +xref: MedDRA:10057621 {source="Orphanet:474/e", source="Orphanet:474"} +xref: MESH:C537571 {source="Orphanet:474/e", source="MONDO:equivalentTo", source="Orphanet:474"} xref: NCIT:C84794 {source="MONDO:equivalentTo"} -xref: OMIM:208500 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:611263 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:613091 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:613819 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:614376 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:615630 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:615633 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:616300 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} -xref: OMIM:617088 {source="ORDO:474/btnt", source="MONDO:superClassOf", source="Orphanet:474"} +xref: OMIM:208500 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:611263 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:613091 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:613819 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:614376 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:615630 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:615633 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:616300 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} +xref: OMIM:617088 {source="MONDO:superClassOf", source="Orphanet:474/btnt", source="Orphanet:474"} xref: OMIMPS:208500 {source="MONDO:equivalentTo", source="DOID:0050592"} xref: Orphanet:474 {source="MONDO:equivalentTo", source="DOID:0050592"} xref: SCTID:75049004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265275 {source="MONDO:equivalentTo", source="ORDO:474/e", source="Orphanet:474", source="NCIT:C84794"} +xref: UMLS:C0265275 {source="Orphanet:474/e", source="MONDO:equivalentTo", source="Orphanet:474", source="NCIT:C84794"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84794", source="indirect"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy @@ -359820,23 +359658,23 @@ synonym: "Joubert-Boltshauser syndrome" EXACT [Orphanet:475] synonym: "pure Joubert syndrome" EXACT [Orphanet:475] xref: DOID:0050777 {source="MONDO:equivalentTo"} xref: GARD:0006802 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.3 {source="ORDO:475/attributed", source="ORDO:475/ntbt", source="DOID:0050777", source="Orphanet:475"} +xref: ICD10CM:Q04.3 {source="DOID:0050777", source="Orphanet:475/attributed", source="Orphanet:475/ntbt", source="Orphanet:475"} xref: NCIT:C74996 {source="MONDO:equivalentTo"} -xref: OMIM:213300 {source="MONDO:superClassOf", source="ORDO:475/e", source="Orphanet:475"} -xref: OMIM:610688 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:612291 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:614173 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:614424 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:614464 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:614615 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:614970 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:615636 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:616490 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:616654 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:616781 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:616784 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:617120 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} -xref: OMIM:617121 {source="ORDO:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:213300 {source="Orphanet:475/e", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:610688 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:612291 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:614173 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:614424 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:614464 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:614615 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:614970 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:615636 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:616490 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:616654 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:616781 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:616784 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:617120 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} +xref: OMIM:617121 {source="Orphanet:475/btnt", source="MONDO:superClassOf", source="Orphanet:475"} xref: OMIMPS:213300 {source="DOID:0050777", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="DOID:0050777", source="MONDO:equivalentTo"} xref: SCTID:716997004 {source="MONDO:equivalentTo"} @@ -359948,12 +359786,12 @@ synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrom synonym: "KID/HID syndrome" EXACT [Orphanet:477] synonym: "Senter syndrome" EXACT [Orphanet:477] xref: GARD:0003113 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q80.8 {source="Orphanet:477", source="ORDO:477/attributed", source="ORDO:477/ntbt"} +xref: ICD10CM:Q80.8 {source="Orphanet:477", source="Orphanet:477/attributed", source="Orphanet:477/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048786 {source="Orphanet:477", source="ORDO:477/e"} -xref: OMIM:148210 {source="Orphanet:477", source="MONDO:superClassOf", source="ORDO:477/e"} -xref: OMIM:242150 {source="Orphanet:477", source="MONDO:superClassOf", source="ORDO:477/btnt"} -xref: OMIM:602540 {source="Orphanet:477", source="MONDO:superClassOf", source="ORDO:477/btnt"} +xref: MedDRA:10048786 {source="Orphanet:477", source="Orphanet:477/e"} +xref: OMIM:148210 {source="Orphanet:477", source="MONDO:superClassOf", source="Orphanet:477/e"} +xref: OMIM:242150 {source="Orphanet:477", source="Orphanet:477/btnt", source="MONDO:superClassOf"} +xref: OMIM:602540 {source="Orphanet:477", source="Orphanet:477/btnt", source="MONDO:superClassOf"} xref: OMIMPS:148210 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="MONDO:equivalentTo"} xref: SCTID:2625009 {source="MONDO:equivalentTo"} @@ -360183,34 +360021,34 @@ synonym: "Kallman's syndrome" EXACT [DOID:3614] synonym: "Olfacto-genital pathological sequence" EXACT [Orphanet:478] xref: DOID:3614 {source="MONDO:equivalentTo"} xref: GARD:0010771 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="Orphanet:478", source="MONDO:relatedTo", source="ORDO:478/inclusion", source="DOID:3614", source="ORDO:478/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:478", source="MONDO:relatedTo", source="Orphanet:478/ntbt", source="DOID:3614", source="Orphanet:478/inclusion"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10053142 {source="Orphanet:478", source="ORDO:478/e"} -xref: MESH:D017436 {source="Orphanet:478", source="MONDO:equivalentTo", source="DOID:3614", source="ORDO:478/e"} +xref: MedDRA:10053142 {source="Orphanet:478", source="Orphanet:478/e"} +xref: MESH:D017436 {source="Orphanet:478", source="MONDO:equivalentTo", source="Orphanet:478/e", source="DOID:3614"} xref: NCIT:C75479 {source="MONDO:equivalentTo", source="DOID:3614"} -xref: OMIM:147950 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/ntbt"} -xref: OMIM:244200 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:308700 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:610628 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:612370 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:612702 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:614837 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:614838 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:614840 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:614858 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:614880 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:614897 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:615266 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:615267 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:615269 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:615270 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:615271 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} -xref: OMIM:616030 {source="Orphanet:478", source="MONDO:superClassOf", source="ORDO:478/btnt"} +xref: OMIM:147950 {source="Orphanet:478", source="Orphanet:478/ntbt", source="MONDO:superClassOf"} +xref: OMIM:244200 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:308700 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:610628 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:612370 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:612702 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:614837 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:614838 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:614840 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:614858 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:614880 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:614897 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:615266 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:615267 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:615269 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:615270 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:615271 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} +xref: OMIM:616030 {source="Orphanet:478", source="Orphanet:478/btnt", source="MONDO:superClassOf"} xref: Orphanet:478 {source="MONDO:equivalentTo", source="DOID:3614"} xref: SCTID:190559001 {source="DOID:3614"} xref: SCTID:33927004 {source="MONDO:subClassOf", source="DOID:3614"} xref: SCTID:93559003 {source="MONDO:equivalentTo", source="DOID:3614"} -xref: UMLS:C0162809 {source="Orphanet:478", source="MONDO:equivalentTo", source="DOID:3614", source="NCIT:C75479", source="ORDO:478/e"} +xref: UMLS:C0162809 {source="Orphanet:478", source="MONDO:equivalentTo", source="Orphanet:478/e", source="DOID:3614", source="NCIT:C75479"} is_a: MONDO:0002254 {source="NCIT:C75479"} ! syndromic disease is_a: MONDO:0018555 {source="DOID:3614", source="NCIT:C75479", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypogonadotropic hypogonadism relationship: disease_has_feature HP:0000789 {source="Wikidata"} ! Infertility @@ -360225,16 +360063,16 @@ subset: ordo_morphological_anomaly {source="Orphanet:48"} synonym: "congenital bilateral agenesis of vas deferens" EXACT [Orphanet:48] synonym: "congenital bilateral aplasia of vas deferens" EXACT [Orphanet:48] xref: GARD:0005461 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q55.4 {source="ORDO:48/attributed", source="ORDO:48/ntbt", source="Orphanet:48"} +xref: ICD10CM:Q55.4 {source="Orphanet:48", source="Orphanet:48/attributed", source="Orphanet:48/ntbt"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10010670 {source="ORDO:48/e", source="Orphanet:48"} -xref: MESH:C535984 {source="ORDO:48/e", source="Orphanet:48"} -xref: OMIM:277180 {source="MONDO:superClassOf", source="ORDO:48/btnt", source="Orphanet:48"} -xref: OMIM:300985 {source="MONDO:superClassOf", source="ORDO:48/btnt", source="Orphanet:48"} +xref: MedDRA:10010670 {source="Orphanet:48", source="Orphanet:48/e"} +xref: MESH:C535984 {source="Orphanet:48", source="Orphanet:48/e"} +xref: OMIM:277180 {source="MONDO:superClassOf", source="Orphanet:48", source="Orphanet:48/btnt"} +xref: OMIM:300985 {source="MONDO:superClassOf", source="Orphanet:48", source="Orphanet:48/btnt"} xref: OMIMPS:277180 {source="MONDO:equivalentTo"} xref: Orphanet:48 {source="MONDO:equivalentTo"} xref: SCTID:275416002 {source="MONDO:equivalentTo"} -xref: UMLS:C0403814 {source="ORDO:48/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:48"} +xref: UMLS:C0403814 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:48", source="Orphanet:48/e"} is_a: MONDO:0005372 ! male infertility is_a: MONDO:0015933 {source="Orphanet:48"} ! non-syndromic urogenital tract malformation of male is_a: MONDO:0021145 {source="Orphanet:48", source="Orphanet:48/inferred"} ! disorder of genitourinary system @@ -360501,13 +360339,13 @@ subset: ordo_disease {source="Orphanet:48104"} xref: DOID:8553 {source="MONDO:equivalentTo"} xref: EFO:0006835 {source="MONDO:equivalentTo"} xref: GARD:0007510 {source="MONDO:equivalentTo"} -xref: ICD10CM:L88 {source="MONDO:equivalentTo", source="ORDO:48104/e", source="Orphanet:48104", source="DOID:8553"} +xref: ICD10CM:L88 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"} xref: ICD9:686.01 {source="MONDO:equivalentTo", source="i2s", source="DOID:8553"} -xref: MedDRA:10037635 {source="ORDO:48104/e", source="Orphanet:48104"} -xref: MESH:D017511 {source="MONDO:equivalentTo", source="ORDO:48104/e", source="Orphanet:48104", source="DOID:8553"} +xref: MedDRA:10037635 {source="Orphanet:48104/e", source="Orphanet:48104"} +xref: MESH:D017511 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"} xref: Orphanet:48104 {source="MONDO:equivalentTo"} xref: SCTID:74578003 {source="MONDO:equivalentTo", source="DOID:8553"} -xref: UMLS:C0085652 {source="MONDO:equivalentTo", source="ORDO:48104/e", source="Orphanet:48104", source="DOID:8553"} +xref: UMLS:C0085652 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"} is_a: MONDO:0002922 {source="DOID:8553", source="MESH:D017511", source="linkedlifedata"} ! pyoderma is_a: MONDO:0017954 {source="Orphanet:48104"} ! pyogenic autoinflammatory syndrome is_a: MONDO:0019751 ! autoinflammatory syndrome @@ -360534,10 +360372,10 @@ subset: ordo_clinical_subtype {source="Orphanet:48162"} synonym: "MADSAM" EXACT ABBREVIATION [Orphanet:48162] synonym: "multifocal acquired demyelinating sensory and motor neuropathy" EXACT [Orphanet:48162] xref: GARD:0013070 {source="MONDO:equivalentTo"} -xref: ICD10CM:G61.8 {source="Orphanet:48162", source="ORDO:48162/ntbt"} -xref: MedDRA:10065580 {source="ORDO:48162/e", source="Orphanet:48162"} +xref: ICD10CM:G61.8 {source="Orphanet:48162/ntbt", source="Orphanet:48162"} +xref: MedDRA:10065580 {source="Orphanet:48162", source="Orphanet:48162/e"} xref: Orphanet:48162 {source="MONDO:equivalentTo"} -xref: UMLS:C1695985 {source="ORDO:48162/e", source="Orphanet:48162", source="MONDO:equivalentTo"} +xref: UMLS:C1695985 {source="Orphanet:48162", source="MONDO:equivalentTo", source="Orphanet:48162/e"} is_a: MONDO:0006702 {source="Orphanet:48162"} ! chronic inflammatory demyelinating polyradiculoneuropathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0007691 {source="Orphanet:48162"} ! Guillain-Barre syndrome, familial @@ -360610,15 +360448,15 @@ synonym: "Kimura's disease" EXACT [DOID:7365, NCIT:C26867] xref: DOID:7365 {source="MONDO:equivalentTo", source="EFO:1000722"} xref: EFO:1000722 {source="MONDO:equivalentTo"} xref: GARD:0006835 {source="MONDO:equivalentTo"} -xref: ICD10CM:I89.8 {source="ORDO:482/ntbt", source="Orphanet:482"} -xref: MedDRA:10048640 {source="ORDO:482/e", source="Orphanet:482"} -xref: MESH:D000796 {source="MONDO:equivalentTo", source="ORDO:482/e", source="Orphanet:482", source="DOID:7365"} +xref: ICD10CM:I89.8 {source="Orphanet:482/ntbt", source="Orphanet:482"} +xref: MedDRA:10048640 {source="Orphanet:482/e", source="Orphanet:482"} +xref: MESH:D000796 {source="Orphanet:482/e", source="MONDO:equivalentTo", source="Orphanet:482", source="DOID:7365"} xref: NCIT:C26867 {source="MONDO:equivalentTo", source="DOID:7365"} xref: Orphanet:482 {source="MONDO:equivalentTo"} xref: SCTID:254791004 {source="DOID:7365"} xref: SCTID:399894006 {source="DOID:7365"} xref: SCTID:69484003 {source="DOID:7365"} -xref: UMLS:C0033838 {source="MONDO:equivalentTo", source="ORDO:482/e", source="NCIT:C26867", source="Orphanet:482", source="DOID:7365"} +xref: UMLS:C0033838 {source="Orphanet:482/e", source="MONDO:equivalentTo", source="NCIT:C26867", source="Orphanet:482", source="DOID:7365"} xref: Wikipedia:Kimura's_disease {source="EFO:1000722"} is_a: MONDO:0002052 {source="https://orcid.org/0000-0002-1780-5230"} ! lymphadenitis is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-1780-5230"} ! autoimmune disease @@ -360677,7 +360515,7 @@ synonym: "non-cirrhotic nodular transformation" RELATED [GARD:0010929] synonym: "non-cirrhotic nodulation" EXACT [Orphanet:48372] synonym: "non-cirrhotic portal hypertension" RELATED [GARD:0010929] xref: GARD:0010929 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K76.8 {source="Orphanet:48372", source="ORDO:48372/ntbt"} +xref: ICD10CM:K76.8 {source="Orphanet:48372", source="Orphanet:48372/ntbt"} xref: ICD9:573.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:48372 {source="MONDO:equivalentTo"} xref: SCTID:715140008 {source="MONDO:equivalentTo"} @@ -360697,7 +360535,7 @@ id: MONDO:0018837 name: postinfectious vasculitis def: "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." [Orphanet:48435] subset: ordo_disease {source="Orphanet:48435"} -xref: ICD10CM:I77.6 {source="ORDO:48435/ntbt", source="Orphanet:48435"} +xref: ICD10CM:I77.6 {source="Orphanet:48435/ntbt", source="Orphanet:48435"} xref: Orphanet:48435 {source="MONDO:equivalentTo"} xref: SCTID:724063005 {source="MONDO:equivalentTo"} xref: UMLS:C4510302 {source="MONDO:equivalentTo"} @@ -360723,10 +360561,10 @@ xref: DOID:0050453 {source="MONDO:equivalentTo"} xref: GARD:0007300 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: GARD:0012291 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0001339 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q04.3 {source="DOID:0050453", source="Orphanet:48471", source="ORDO:48471/ntbt", source="ORDO:48471/inclusion"} +xref: ICD10CM:Q04.3 {source="Orphanet:48471/inclusion", source="DOID:0050453", source="Orphanet:48471", source="Orphanet:48471/ntbt"} xref: ICD10CM:Q04.8 {source="DOID:0050453"} -xref: MedDRA:10048911 {source="ORDO:48471/e", source="Orphanet:48471"} -xref: MESH:D054082 {source="ORDO:48471/e", source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471"} +xref: MedDRA:10048911 {source="Orphanet:48471", source="Orphanet:48471/e"} +xref: MESH:D054082 {source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="Orphanet:48471/e"} xref: NCIT:C103921 {source="DOID:0050453", source="MONDO:equivalentTo"} xref: OMIM:300067 {source="DOID:0050453", source="MONDO:superClassOf"} xref: OMIM:300215 {source="DOID:0050453", source="MONDO:superClassOf"} @@ -360739,7 +360577,7 @@ xref: Orphanet:102009 {source="DOID:0050453", source="MONDO:superClassOf"} xref: Orphanet:48471 {source="MONDO:equivalentTo"} xref: SCTID:204036008 {source="DOID:0050453", source="MONDO:equivalentTo"} xref: SCTID:23024003 {source="DOID:0050453"} -xref: UMLS:C0266463 {source="ORDO:48471/e", source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="NCIT:C103921"} +xref: UMLS:C0266463 {source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="NCIT:C103921", source="Orphanet:48471/e"} xref: UMLS:C0266483 {source="DOID:0050453", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000508 {source="Orphanet:48471"} ! syndromic intellectual disability is_a: MONDO:0002320 {source="DOID:0050453", source="indirect"} ! congenital nervous system disorder @@ -360815,16 +360653,16 @@ synonym: "PEL" EXACT ABBREVIATION [NCIT:C6915, ONCOTREE:PEL, Orphanet:48686] synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915] xref: EFO:1000491 {source="MONDO:equivalentTo"} xref: GARD:0009247 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.8 {source="ORDO:48686/ntbt", source="Orphanet:48686"} +xref: ICD10CM:C83.8 {source="Orphanet:48686/ntbt", source="Orphanet:48686"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9678/3 {source="NCIT:C6915"} -xref: MedDRA:10065857 {source="ORDO:48686/e", source="Orphanet:48686"} -xref: MESH:D054685 {source="MONDO:equivalentTo", source="ORDO:48686/e", source="Orphanet:48686"} +xref: MedDRA:10065857 {source="Orphanet:48686/e", source="Orphanet:48686"} +xref: MESH:D054685 {source="Orphanet:48686/e", source="MONDO:equivalentTo", source="Orphanet:48686"} xref: NCIT:C6915 {source="EFO:1000491", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:PEL {source="MONDO:equivalentTo"} xref: Orphanet:48686 {source="MONDO:equivalentTo"} xref: SCTID:713516007 {source="MONDO:equivalentTo"} -xref: UMLS:C1292753 {source="MONDO:equivalentTo", source="ORDO:48686/e", source="Orphanet:48686", source="NCIT:C6915"} +xref: UMLS:C1292753 {source="Orphanet:48686/e", source="MONDO:equivalentTo", source="Orphanet:48686", source="NCIT:C6915"} is_a: MONDO:0015157 {source="Orphanet:48686"} ! human herpesvirus 8-related tumor is_a: MONDO:0017343 {source="Orphanet:48686"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0017595 {source="MONDO:Redundant", source="Orphanet:48686", source="indirect"} ! aggressive B-cell non-Hodgkin lymphoma @@ -360842,7 +360680,7 @@ synonym: "embryonal carcinoma of CNS" EXACT [DOID:7232, NCIT:C7010] synonym: "embryonal carcinoma of the central nervous system" EXACT [DOID:7232, NCIT:C7010] synonym: "embryonal carcinoma of the CNS" EXACT [Orphanet:48736] xref: DOID:7232 {source="MONDO:equivalentTo"} -xref: ICD10CM:C71.9 {source="Orphanet:48736", source="ORDO:48736/ntbt"} +xref: ICD10CM:C71.9 {source="Orphanet:48736/ntbt", source="Orphanet:48736"} xref: NCIT:C7010 {source="MONDO:equivalentTo", source="DOID:7232"} xref: ONCOTREE:BEC {source="MONDO:equivalentTo"} xref: Orphanet:48736 {source="MONDO:equivalentTo"} @@ -360863,13 +360701,13 @@ synonym: "urachal cyst" EXACT [MONDO:ambiguous] synonym: "urachal cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0005425 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: HP:0012618 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q64.4 {source="Orphanet:488", source="ORDO:488/ntbt"} -xref: MedDRA:10065375 {source="Orphanet:488", source="ORDO:488/e"} -xref: MESH:D014496 {source="Orphanet:488", source="MONDO:equivalentTo", source="ORDO:488/e"} +xref: ICD10CM:Q64.4 {source="Orphanet:488", source="Orphanet:488/ntbt"} +xref: MedDRA:10065375 {source="Orphanet:488", source="Orphanet:488/e"} +xref: MESH:D014496 {source="Orphanet:488", source="MONDO:equivalentTo", source="Orphanet:488/e"} xref: NCIT:C85216 {source="MONDO:equivalentTo"} xref: Orphanet:488 {source="MONDO:equivalentTo"} xref: SCTID:17234001 {source="MONDO:equivalentTo"} -xref: UMLS:C0041915 {source="Orphanet:488", source="MONDO:notFoundInDiseaseSubset", source="ORDO:488/e"} +xref: UMLS:C0041915 {source="Orphanet:488", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:488/e"} is_a: MONDO:0018565 {source="Orphanet:488"} ! congenital urachal anomaly property_value: IAO:0000589 "urachal cyst (disease)" xsd:string @@ -360880,11 +360718,11 @@ def: "Focal myositis is a rare inflammatory myopathy characterized by a localize subset: ordo_disease {source="Orphanet:48918"} synonym: "focal nodular myositis" EXACT [Orphanet:48918] synonym: "inflammatory pseudotumor of skeletal muscle" EXACT [Orphanet:48918] -xref: ICD10CM:M60.8 {source="ORDO:48918/ntbt", source="Orphanet:48918"} +xref: ICD10CM:M60.8 {source="Orphanet:48918", source="Orphanet:48918/ntbt"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:48918 {source="MONDO:equivalentTo"} xref: SCTID:240119009 {source="MONDO:equivalentTo"} -xref: UMLS:C0751357 {source="ORDO:48918/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:48918"} +xref: UMLS:C0751357 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:48918", source="Orphanet:48918/e"} is_a: MONDO:0020122 {source="Orphanet:48918"} ! acquired idiopathic inflammatory myopathy [Term] @@ -360900,13 +360738,13 @@ synonym: "micropenis" RELATED [GARD:0004272] synonym: "penis agenesia" RELATED [GARD:0004272] synonym: "penis agenesis" EXACT [Orphanet:49] xref: GARD:0004272 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q55.5 {source="Orphanet:49", source="ORDO:49/e"} -xref: MESH:C536649 {source="MONDO:equivalentTo", source="Orphanet:49", source="ORDO:49/e"} +xref: ICD10CM:Q55.5 {source="Orphanet:49", source="Orphanet:49/e"} +xref: MESH:C536649 {source="MONDO:equivalentTo", source="Orphanet:49", source="Orphanet:49/e"} xref: NCIT:C99009 {source="MONDO:equivalentTo"} xref: Orphanet:49 {source="MONDO:equivalentTo"} xref: SCTID:59981001 {source="MONDO:equivalentTo"} xref: UMLS:C0555231 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C99009"} -xref: UMLS:C1387005 {source="Orphanet:49", source="MONDO:notFoundInDiseaseSubset", source="ORDO:49/e"} +xref: UMLS:C1387005 {source="Orphanet:49", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:49/e"} is_a: MONDO:0015933 {source="Orphanet:49"} ! non-syndromic urogenital tract malformation of male is_a: MONDO:0020040 {source="Orphanet:49"} ! 46,XY disorder of sex development @@ -360916,7 +360754,7 @@ name: omphalomesenteric cyst subset: gard_rare {source="GARD:0004081"} subset: ordo_morphological_anomaly {source="Orphanet:490"} xref: GARD:0004081 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q43.0 {source="ORDO:490/ntbt", source="Orphanet:490"} +xref: ICD10CM:Q43.0 {source="Orphanet:490", source="Orphanet:490/ntbt"} xref: Orphanet:490 {source="MONDO:equivalentTo"} xref: SCTID:80880002 {source="MONDO:equivalentTo"} xref: UMLS:C0266180 {source="GARD:0004081", source="MONDO:notFoundInDiseaseSubset"} @@ -360934,15 +360772,15 @@ synonym: "Ormond disease" EXACT [Orphanet:49041] synonym: "Ormond's disease" RELATED [GARD:0009568] synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876] xref: GARD:0009568 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N13.5 {source="Orphanet:49041", source="ORDO:49041/ntbt"} +xref: ICD10CM:N13.5 {source="Orphanet:49041/ntbt", source="Orphanet:49041"} xref: ICD9:593.4 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10038979 {source="ORDO:49041/e", source="Orphanet:49041"} -xref: MESH:D012185 {source="ORDO:49041/e", source="Orphanet:49041", source="MONDO:equivalentTo"} +xref: MedDRA:10038979 {source="Orphanet:49041", source="Orphanet:49041/e"} +xref: MESH:D012185 {source="Orphanet:49041", source="MONDO:equivalentTo", source="Orphanet:49041/e"} xref: NCIT:C26876 {source="MONDO:equivalentTo"} -xref: OMIM:228800 {source="Orphanet:49041", source="MONDO:superClassOf", source="ORDO:49041/btnt"} +xref: OMIM:228800 {source="Orphanet:49041/btnt", source="Orphanet:49041", source="MONDO:superClassOf"} xref: Orphanet:49041 {source="MONDO:equivalentTo"} xref: SCTID:197808006 {source="MONDO:equivalentTo"} -xref: UMLS:C0035357 {source="ORDO:49041/e", source="Orphanet:49041", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0035357 {source="Orphanet:49041", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:49041/e"} is_a: MONDO:0017287 {source="Orphanet:49041"} ! IgG4-related disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare @@ -360964,10 +360802,10 @@ synonym: "opalescent teeth without osteogenesis imperfecta" EXACT [Orphanet:4904 xref: DOID:4154 {source="MONDO:equivalentTo"} xref: GARD:0006258 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0000703 {source="MONDO:otherHierarchy"} -xref: ICD10CM:K00.5 {source="Orphanet:49042", source="ORDO:49042/inclusion", source="ORDO:49042/ntbt", source="DOID:4154"} +xref: ICD10CM:K00.5 {source="Orphanet:49042/ntbt", source="Orphanet:49042/inclusion", source="Orphanet:49042", source="DOID:4154"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10054013 {source="ORDO:49042/e", source="Orphanet:49042"} -xref: MESH:D003811 {source="ORDO:49042/e", source="Orphanet:49042", source="MONDO:equivalentTo", source="DOID:4154"} +xref: MedDRA:10054013 {source="Orphanet:49042", source="Orphanet:49042/e"} +xref: MESH:D003811 {source="Orphanet:49042", source="MONDO:equivalentTo", source="Orphanet:49042/e", source="DOID:4154"} xref: NCIT:C84667 {source="MONDO:equivalentTo", source="DOID:4154"} xref: OMIM:125490 {source="MONDO:superClassOf", source="DOID:4154"} xref: OMIM:125500 {source="MONDO:superClassOf", source="DOID:4154"} @@ -360975,7 +360813,7 @@ xref: Orphanet:49042 {source="MONDO:equivalentTo"} xref: SCTID:196286005 {source="MONDO:equivalentTo", source="DOID:4154"} xref: SCTID:367461002 {source="DOID:4154"} xref: SCTID:45742009 {source="DOID:4154"} -xref: UMLS:C0011436 {source="NCIT:C84667", source="ORDO:49042/e", source="Orphanet:49042", source="MONDO:equivalentTo", source="DOID:4154"} +xref: UMLS:C0011436 {source="NCIT:C84667", source="Orphanet:49042", source="MONDO:equivalentTo", source="Orphanet:49042/e", source="DOID:4154"} xref: UMLS:C2973527 {source="Orphanet:49042", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0006999 {source="DOID:4154", source="MESH:D003811/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tooth disorder is_a: MONDO:0015668 {source="Orphanet:49042"} ! hereditary dentin defect @@ -360995,7 +360833,7 @@ synonym: "proliferating Pilar tumor" EXACT [NCIT:C27125] synonym: "proliferating trichilemmal tumor" EXACT [NCIT:C27125] synonym: "proliferating Tricholemmal tumor" EXACT [NCIT:C27125] xref: GARD:0004509 {source="MONDO:equivalentTo"} -xref: ICD10CM:L72.1 {source="ORDO:492/ntbt", source="Orphanet:492"} +xref: ICD10CM:L72.1 {source="Orphanet:492", source="Orphanet:492/ntbt"} xref: ICDO:8103/0 {source="NCIT:C27125"} xref: ICDO:8103/1 {source="NCIT:C27125"} xref: NCIT:C27125 {source="MONDO:equivalentTo"} @@ -361017,7 +360855,7 @@ comment: Editor note: consider adding subtypes subset: ordo_disease {source="Orphanet:493"} synonym: "hereditary keratoacanthoma" EXACT [MONDO:patterns/hereditary, Orphanet:493] synonym: "multiple keratoacanthoma" EXACT [Orphanet:493] -xref: ICD10CM:L85.8 {source="ORDO:493/attributed", source="ORDO:493/ntbt", source="Orphanet:493"} +xref: ICD10CM:L85.8 {source="Orphanet:493/attributed", source="Orphanet:493/ntbt", source="Orphanet:493"} xref: Orphanet:493 {source="MONDO:equivalentTo"} xref: SCTID:716774008 {source="MONDO:equivalentTo"} xref: UMLS:C0546476 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:493"} @@ -361047,22 +360885,22 @@ synonym: "Rod monochromacy" EXACT [Orphanet:49382] synonym: "Rod monochromatism" EXACT [Orphanet:49382] synonym: "total color blindness" EXACT [Orphanet:49382] xref: DOID:13911 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.5 {source="Orphanet:49382", source="ORDO:49382/inclusion", source="ORDO:49382/ntbt"} +xref: ICD10CM:H53.5 {source="Orphanet:49382/inclusion", source="Orphanet:49382/ntbt", source="Orphanet:49382"} xref: ICD10CM:H53.51 {source="DOID:13911", source="MONDO:equivalentTo"} xref: ICD9:368.54 {source="DOID:13911"} -xref: MedDRA:10000454 {source="ORDO:49382/e", source="Orphanet:49382"} +xref: MedDRA:10000454 {source="Orphanet:49382", source="Orphanet:49382/e"} xref: MESH:D003117 {source="DOID:13911"} xref: NCIT:C84528 {source="DOID:13911", source="MONDO:equivalentTo"} -xref: OMIM:216900 {source="ORDO:49382/e", source="Orphanet:49382", source="MONDO:superClassOf"} -xref: OMIM:262300 {source="Orphanet:49382", source="MONDO:superClassOf", source="ORDO:49382/btnt"} -xref: OMIM:610024 {source="Orphanet:49382", source="MONDO:superClassOf", source="ORDO:49382/btnt"} -xref: OMIM:613093 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:49382", source="ORDO:49382/ntbt"} -xref: OMIM:613856 {source="Orphanet:49382", source="MONDO:superClassOf", source="ORDO:49382/btnt"} -xref: OMIM:616517 {source="Orphanet:49382", source="MONDO:superClassOf", source="ORDO:49382/btnt"} +xref: OMIM:216900 {source="Orphanet:49382", source="MONDO:superClassOf", source="Orphanet:49382/e"} +xref: OMIM:262300 {source="Orphanet:49382/btnt", source="Orphanet:49382", source="MONDO:superClassOf"} +xref: OMIM:610024 {source="Orphanet:49382/btnt", source="Orphanet:49382", source="MONDO:superClassOf"} +xref: OMIM:613093 {source="MONDO:subClassOf", source="Orphanet:49382/ntbt", source="MONDO:relatedTo", source="Orphanet:49382"} +xref: OMIM:613856 {source="Orphanet:49382/btnt", source="Orphanet:49382", source="MONDO:superClassOf"} +xref: OMIM:616517 {source="Orphanet:49382/btnt", source="Orphanet:49382", source="MONDO:superClassOf"} xref: Orphanet:49382 {source="DOID:13911", source="MONDO:equivalentTo"} xref: SCTID:102450007 {source="MONDO:equivalentTo"} xref: SCTID:56852002 {source="DOID:13911"} -xref: UMLS:C0152200 {source="ORDO:49382/e", source="DOID:13911", source="NCIT:C84528", source="Orphanet:49382", source="MONDO:equivalentTo"} +xref: UMLS:C0152200 {source="DOID:13911", source="NCIT:C84528", source="Orphanet:49382", source="MONDO:equivalentTo", source="Orphanet:49382/e"} is_a: MONDO:0001703 {source="DOID:13911", source="Orphanet:49382", source="linkedlifedata", source="linkedlifedata/inferred"} ! color vision disorder is_a: MONDO:0020208 {source="Orphanet:49382"} ! syndromic myopia relationship: disease_has_feature HP:0000646 {source="Wikidata"} ! Amblyopia @@ -361079,8 +360917,8 @@ synonym: "keratosis palmoplantaris transgrediens et progrediens" EXACT [Orphanet synonym: "progressive diffuse palmoplantar keratoderma" EXACT [Orphanet:495] synonym: "progressive diffuse PPK" EXACT [Orphanet:495] synonym: "transgrediens et progrediens PPK" EXACT [Orphanet:495] -xref: ICD10CM:Q82.8 {source="ORDO:495/attributed", source="ORDO:495/ntbt", source="Orphanet:495"} -xref: OMIM:133200 {source="MONDO:subClassOf", source="ORDO:495/ntbt", source="MONDO:directSiblingOf", source="Orphanet:495"} +xref: ICD10CM:Q82.8 {source="Orphanet:495/attributed", source="Orphanet:495/ntbt", source="Orphanet:495"} +xref: OMIM:133200 {source="MONDO:subClassOf", source="Orphanet:495/ntbt", source="MONDO:directSiblingOf", source="Orphanet:495"} xref: Orphanet:495 {source="MONDO:equivalentTo"} xref: UMLS:C1851479 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:495"} xref: UMLS:C1851480 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:495"} @@ -361096,14 +360934,14 @@ def: "A life-threatening, rapidly progressive thrombotic disorder affecting main subset: ordo_disease {source="Orphanet:49566"} synonym: "acquired PF" EXACT [Orphanet:49566] synonym: "acquired purpura fulminans" EXACT [MONDO:patterns/acquired] -xref: ICD10CM:D65 {source="ORDO:49566/ntbt", source="Orphanet:49566"} -xref: MedDRA:10037556 {source="ORDO:49566/e", source="Orphanet:49566"} -xref: MESH:D014884 {source="MONDO:relatedTo", source="ORDO:49566/e", source="Orphanet:49566"} -xref: MESH:D055665 {source="MONDO:relatedTo", source="ORDO:49566/e", source="Orphanet:49566"} +xref: ICD10CM:D65 {source="Orphanet:49566/ntbt", source="Orphanet:49566"} +xref: MedDRA:10037556 {source="Orphanet:49566/e", source="Orphanet:49566"} +xref: MESH:D014884 {source="MONDO:relatedTo", source="Orphanet:49566/e", source="Orphanet:49566"} +xref: MESH:D055665 {source="MONDO:relatedTo", source="Orphanet:49566/e", source="Orphanet:49566"} xref: Orphanet:49566 {source="MONDO:equivalentTo"} xref: SCTID:725157006 {source="MONDO:equivalentTo"} -xref: UMLS:C0043068 {source="MONDO:relatedTo", source="ORDO:49566/e", source="Orphanet:49566"} -xref: UMLS:C0085650 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:49566/e", source="Orphanet:49566"} +xref: UMLS:C0043068 {source="MONDO:relatedTo", source="Orphanet:49566/e", source="Orphanet:49566"} +xref: UMLS:C0085650 {source="Orphanet:49566/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:49566"} xref: UMLS:C4510896 {source="MONDO:equivalentTo"} xref: UMLS:CN205163 {source="MONDO:equivalentTo"} is_a: MONDO:0000831 {source="Orphanet:49566"} ! thrombotic disease @@ -361133,7 +360971,7 @@ synonym: "ulerythema ophryogenes" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenes with multiple congenital anomalies" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412] xref: GARD:0001042 {source="MONDO:equivalentTo"} -xref: ICD10CM:L85.8 {source="ORDO:498/attributed", source="ORDO:498/ntbt", source="Orphanet:498"} +xref: ICD10CM:L85.8 {source="Orphanet:498/attributed", source="Orphanet:498/ntbt", source="Orphanet:498"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537412 {source="MONDO:equivalentTo"} xref: OMIM:604093 {source="MONDO:equivalentTo", source="GARD:0001042"} @@ -361153,8 +360991,8 @@ def: "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin subset: ordo_disease {source="Orphanet:49804"} synonym: "amyloid lichen" EXACT [Orphanet:49804] synonym: "lichen amyloidosus" EXACT [Orphanet:49804] -xref: ICD10EXP:E85.4+ {source="Orphanet:49804", source="ORDO:49804/ntbt"} -xref: ICD10EXP:L99.0* {source="Orphanet:49804", source="ORDO:49804/ntbt"} +xref: ICD10EXP:E85.4+ {source="Orphanet:49804", source="Orphanet:49804/ntbt"} +xref: ICD10EXP:L99.0* {source="Orphanet:49804", source="Orphanet:49804/ntbt"} xref: Orphanet:49804 {source="MONDO:equivalentTo"} xref: SCTID:718105008 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="Orphanet:49804", source="linkedlifedata"} ! primary cutaneous amyloidosis @@ -361166,13 +361004,13 @@ subset: gard_rare {source="GARD:0001609"} subset: ordo_disease {source="Orphanet:504"} synonym: "migratory myiasis" EXACT [Orphanet:504] xref: GARD:0001609 {source="MONDO:equivalentTo"} -xref: ICD10CM:B87.0 {source="MONDO:subClassOf", source="Orphanet:504", source="ORDO:504/ntbt"} -xref: MedDRA:10059547 {source="ORDO:504/e", source="Orphanet:504"} -xref: MESH:D007815 {source="MONDO:relatedTo", source="ORDO:504/e", source="Orphanet:504"} +xref: ICD10CM:B87.0 {source="MONDO:subClassOf", source="Orphanet:504/ntbt", source="Orphanet:504"} +xref: MedDRA:10059547 {source="Orphanet:504", source="Orphanet:504/e"} +xref: MESH:D007815 {source="MONDO:relatedTo", source="Orphanet:504", source="Orphanet:504/e"} xref: Orphanet:504 {source="MONDO:equivalentTo"} xref: SCTID:417441005 {source="MONDO:equivalentTo"} -xref: UMLS:C0546999 {source="ORDO:504/e", source="Orphanet:504", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1562462 {source="ORDO:504/e", source="Orphanet:504", source="MONDO:equivalentTo"} +xref: UMLS:C0546999 {source="Orphanet:504", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:504/e"} +xref: UMLS:C1562462 {source="Orphanet:504", source="MONDO:equivalentTo", source="Orphanet:504/e"} is_a: MONDO:0020568 {source="Orphanet:504", source="linkedlifedata"} ! cutaneous myiasis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis xsd:anyURI {source="GARD:0001609"} @@ -361186,7 +361024,7 @@ synonym: "Graham Little syndrome" EXACT [Orphanet:505] synonym: "Graham-Little-Piccardi-Lassueur syndrome" RELATED [GARD:0003195] synonym: "Piccardi-Lassueur-Little syndrome" EXACT [Orphanet:505] xref: GARD:0003195 {source="MONDO:equivalentTo"} -xref: ICD10CM:L66.1 {source="Orphanet:505", source="ORDO:505/attributed", source="ORDO:505/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:L66.1 {source="Orphanet:505", source="MONDO:directSiblingOf", source="Orphanet:505/attributed", source="Orphanet:505/ntbt"} xref: Orphanet:505 {source="MONDO:equivalentTo"} xref: SCTID:718215008 {source="MONDO:equivalentTo"} xref: UMLS:C0023645 {source="GARD:0003195", source="MONDO:directSiblingOf"} @@ -361206,7 +361044,7 @@ name: microlissencephaly-micromelia syndrome def: "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." [Orphanet:50810] subset: ordo_malformation_syndrome {source="Orphanet:50810"} synonym: "Basel-Vanagaite-Sirota syndrome" EXACT [Orphanet:50810] -xref: ICD10CM:Q04.3 {source="ORDO:50810/attributed", source="ORDO:50810/ntbt", source="Orphanet:50810"} +xref: ICD10CM:Q04.3 {source="Orphanet:50810", source="Orphanet:50810/attributed", source="Orphanet:50810/ntbt"} xref: Orphanet:50810 {source="MONDO:equivalentTo"} xref: UMLS:CN205181 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:50810"} ! syndromic intellectual disability @@ -361218,7 +361056,7 @@ name: Zellweger-like syndrome without peroxisomal anomalies def: "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." [Orphanet:50812] subset: ordo_disease {source="Orphanet:50812"} synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812] -xref: ICD10CM:Q87.8 {source="ORDO:50812/attributed", source="ORDO:50812/ntbt", source="Orphanet:50812"} +xref: ICD10CM:Q87.8 {source="Orphanet:50812/attributed", source="Orphanet:50812/ntbt", source="Orphanet:50812"} xref: Orphanet:50812 {source="MONDO:equivalentTo"} xref: SCTID:718880003 {source="MONDO:equivalentTo"} xref: UMLS:C4305104 {source="MONDO:equivalentTo"} @@ -361251,7 +361089,7 @@ synonym: "Kikuchi's disease" RELATED [GARD:0006834] synonym: "Kikuchi-Fujimoto's disease" RELATED [GARD:0006834] synonym: "nosocomial Kikuchi's disease" RELATED [GARD:0006834] xref: GARD:0006834 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I88.1 {source="Orphanet:50918", source="ORDO:50918/ntbt"} +xref: ICD10CM:I88.1 {source="Orphanet:50918", source="Orphanet:50918/ntbt"} xref: MESH:D020042 {source="MONDO:equivalentTo"} xref: NCIT:C71719 {source="MONDO:equivalentTo"} xref: Orphanet:50918 {source="MONDO:equivalentTo"} @@ -361267,10 +361105,10 @@ subset: ordo_disease {source="Orphanet:50942"} synonym: "keratosis palmoplantaris striata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris striata et areata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942] -xref: ICD10CM:Q82.8 {source="ORDO:50942/attributed", source="ORDO:50942/ntbt", source="Orphanet:50942"} -xref: OMIM:148700 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="ORDO:50942/ntbt", source="Orphanet:50942"} -xref: OMIM:607654 {source="MONDO:superClassOf", source="ORDO:50942/btnt", source="Orphanet:50942"} -xref: OMIM:612908 {source="MONDO:superClassOf", source="ORDO:50942/btnt", source="Orphanet:50942"} +xref: ICD10CM:Q82.8 {source="Orphanet:50942", source="Orphanet:50942/attributed", source="Orphanet:50942/ntbt"} +xref: OMIM:148700 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:50942", source="Orphanet:50942/ntbt"} +xref: OMIM:607654 {source="MONDO:superClassOf", source="Orphanet:50942", source="Orphanet:50942/btnt"} +xref: OMIM:612908 {source="MONDO:superClassOf", source="Orphanet:50942", source="Orphanet:50942/btnt"} xref: Orphanet:50942 {source="MONDO:equivalentTo"} xref: SCTID:764958008 {source="MONDO:equivalentTo"} xref: UMLS:CN205191 {source="MONDO:equivalentTo"} @@ -361294,21 +361132,21 @@ synonym: "encephalopathy, familial infantile, with calcification of basal gangli synonym: "pseudotoxoplasmosis syndrome" RELATED [GARD:0000575] xref: DOID:0050629 {source="MONDO:equivalentTo"} xref: GARD:0000575 {source="MONDO:equivalentTo"} -xref: ICD10CM:G31.8 {source="DOID:0050629", source="ORDO:51/attributed", source="ORDO:51/ntbt", source="Orphanet:51"} +xref: ICD10CM:G31.8 {source="Orphanet:51/attributed", source="Orphanet:51/ntbt", source="DOID:0050629", source="Orphanet:51"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535607 {source="MONDO:equivalentTo", source="ORDO:51/e", source="Orphanet:51"} -xref: OMIM:114100 {source="MONDO:superClassOf", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:225750 {source="GARD:0000575", source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:610181 {source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:610329 {source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:610333 {source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:612952 {source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:615010 {source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} -xref: OMIM:615846 {source="MONDO:superClassOf", source="DOID:0050629", source="ORDO:51/btnt", source="Orphanet:51"} +xref: MESH:C535607 {source="Orphanet:51/e", source="MONDO:equivalentTo", source="Orphanet:51"} +xref: OMIM:114100 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="Orphanet:51"} +xref: OMIM:225750 {source="GARD:0000575", source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} +xref: OMIM:610181 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} +xref: OMIM:610329 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} +xref: OMIM:610333 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} +xref: OMIM:612952 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} +xref: OMIM:615010 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} +xref: OMIM:615846 {source="Orphanet:51/btnt", source="MONDO:superClassOf", source="DOID:0050629", source="Orphanet:51"} xref: OMIMPS:225750 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:51 {source="GARD:0000575", source="MONDO:equivalentTo", source="DOID:0050629"} xref: SCTID:230312006 {source="MONDO:equivalentTo"} -xref: UMLS:C0393591 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:51/e", source="Orphanet:51"} +xref: UMLS:C0393591 {source="Orphanet:51/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:51"} is_a: MONDO:0000508 {source="Orphanet:51"} ! syndromic intellectual disability is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of immunity is_a: MONDO:0006025 {source="DOID:0050629", source="MONDO:Redundant"} ! autosomal recessive disease @@ -361336,24 +361174,24 @@ synonym: "MLD" EXACT ABBREVIATION [DOID:10581, Orphanet:512] synonym: "Scholz cerebral sclerosis" EXACT [DOID:10581] synonym: "sulfatide lipoidosis" EXACT [DOID:10581] xref: DOID:10581 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="Orphanet:512", source="ORDO:512/inclusion", source="ORDO:512/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:512/ntbt", source="Orphanet:512", source="Orphanet:512/inclusion"} xref: ICD10CM:E75.25 {source="DOID:10581"} xref: ICD10CM:E75.29 {source="DOID:10581"} -xref: MedDRA:10067609 {source="Orphanet:512", source="ORDO:512/e"} -xref: MESH:C538597 {source="Orphanet:512", source="ORDO:512/e"} -xref: MESH:D007966 {source="Orphanet:512", source="MONDO:equivalentTo", source="DOID:10581", source="ORDO:512/e"} +xref: MedDRA:10067609 {source="Orphanet:512", source="Orphanet:512/e"} +xref: MESH:C538597 {source="Orphanet:512", source="Orphanet:512/e"} +xref: MESH:D007966 {source="Orphanet:512", source="MONDO:equivalentTo", source="Orphanet:512/e", source="DOID:10581"} xref: NCIT:C61251 {source="MONDO:equivalentTo", source="DOID:10581"} -xref: OMIM:156310 {source="Orphanet:512", source="MONDO:superClassOf", source="ORDO:512/btnt"} -xref: OMIM:249900 {source="Orphanet:512", source="MONDO:superClassOf", source="DOID:10581", source="ORDO:512/btnt"} -xref: OMIM:250100 {source="Orphanet:512", source="MONDO:superClassOf", source="DOID:10581", source="ORDO:512/e"} +xref: OMIM:156310 {source="Orphanet:512/btnt", source="Orphanet:512", source="MONDO:superClassOf"} +xref: OMIM:249900 {source="Orphanet:512/btnt", source="Orphanet:512", source="MONDO:superClassOf", source="DOID:10581"} +xref: OMIM:250100 {source="Orphanet:512", source="MONDO:superClassOf", source="Orphanet:512/e", source="DOID:10581"} xref: Orphanet:512 {source="MONDO:equivalentTo", source="DOID:10581"} xref: SCTID:192784006 {source="DOID:10581"} xref: SCTID:3621006 {source="DOID:10581"} xref: SCTID:396338004 {source="DOID:10581"} xref: SCTID:44359008 {source="DOID:10581"} xref: SCTID:66521008 {source="MONDO:equivalentTo"} -xref: UMLS:C0023522 {source="Orphanet:512", source="MONDO:equivalentTo", source="NCIT:C61251", source="DOID:10581", source="ORDO:512/e"} -xref: UMLS:C2713319 {source="Orphanet:512", source="MONDO:notFoundInDiseaseSubset", source="ORDO:512/e"} +xref: UMLS:C0023522 {source="Orphanet:512", source="MONDO:equivalentTo", source="NCIT:C61251", source="Orphanet:512/e", source="DOID:10581"} +xref: UMLS:C2713319 {source="Orphanet:512", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:512/e"} is_a: MONDO:0002561 {source="DOID:10581/inferred", source="MESH:D007966/inferred", source="MONDO:Redundant", source="NCIT:C61251", source="Orphanet:512/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0015547 ! genetic dementia is_a: MONDO:0019046 {source="NCIT:C61251", source="Orphanet:512", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy @@ -361368,7 +361206,7 @@ def: "Cobblestone lissencephaly is a rare central nervous system malformation wh subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:51577"} synonym: "lissencephaly type 2" EXACT [Orphanet:51577] -xref: ICD10CM:Q04.3 {source="Orphanet:51577", source="ORDO:51577/inclusion", source="ORDO:51577/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:51577/ntbt", source="Orphanet:51577/inclusion", source="Orphanet:51577"} xref: Orphanet:51577 {source="MONDO:equivalentTo"} xref: SCTID:253149002 {source="MONDO:equivalentTo"} xref: UMLS:C0431376 {source="Orphanet:51577", source="MONDO:notFoundInDiseaseSubset"} @@ -361388,14 +361226,14 @@ synonym: "infantile arteriosclerosis" EXACT [DOID:0050644, Orphanet:51608] synonym: "occlusive infantile arteriopathy" EXACT [Orphanet:51608] xref: DOID:0050644 {source="MONDO:equivalentTo"} xref: GARD:0008380 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q28.8 {source="ORDO:51608/ntbt", source="ORDO:51608/index", source="Orphanet:51608"} -xref: MESH:C537440 {source="MONDO:equivalentTo", source="ORDO:51608/e", source="Orphanet:51608"} -xref: OMIM:208000 {source="DOID:0050644", source="MONDO:superClassOf", source="ORDO:51608/e", source="Orphanet:51608"} -xref: OMIM:614473 {source="DOID:0050644", source="MONDO:superClassOf", source="ORDO:51608/e", source="Orphanet:51608"} +xref: ICD10CM:Q28.8 {source="Orphanet:51608/index", source="Orphanet:51608/ntbt", source="Orphanet:51608"} +xref: MESH:C537440 {source="Orphanet:51608/e", source="MONDO:equivalentTo", source="Orphanet:51608"} +xref: OMIM:208000 {source="Orphanet:51608/e", source="DOID:0050644", source="MONDO:superClassOf", source="Orphanet:51608"} +xref: OMIM:614473 {source="Orphanet:51608/e", source="DOID:0050644", source="MONDO:superClassOf", source="Orphanet:51608"} xref: OMIMPS:208000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:51608 {source="MONDO:equivalentTo", source="DOID:0050644"} -xref: UMLS:C0264955 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:51608/e", source="Orphanet:51608"} -xref: UMLS:C1859727 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:51608/e", source="Orphanet:51608"} +xref: UMLS:C0264955 {source="Orphanet:51608/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:51608"} +xref: UMLS:C1859727 {source="Orphanet:51608/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:51608"} is_a: MONDO:0005385 {source="Orphanet:51608"} ! vascular disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0016517"} ! rare relationship: has_modifier MONDO:0021152 {source="OMIMPS:208000"} ! inherited @@ -361416,16 +361254,16 @@ synonym: "AMML" EXACT ABBREVIATION [NCIT:C7463] synonym: "AMMoL" EXACT [GARD:0000529, Orphanet:517] xref: EFO:0000223 {source="MONDO:equivalentTo"} xref: GARD:0000529 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.5 {source="ORDO:517/e", source="Orphanet:517"} +xref: ICD10CM:C92.5 {source="Orphanet:517", source="Orphanet:517/e"} xref: ICDO:9867/3 {source="NCIT:C7463"} -xref: MedDRA:10000890 {source="ORDO:517/e", source="Orphanet:517"} -xref: MESH:D015479 {source="ORDO:517/e", source="Orphanet:517"} +xref: MedDRA:10000890 {source="Orphanet:517", source="Orphanet:517/e"} +xref: MESH:D015479 {source="Orphanet:517", source="Orphanet:517/e"} xref: NCIT:C7463 {source="MONDO:equivalentTo", source="EFO:0000223"} xref: ONCOTREE:AMML {source="MONDO:equivalentTo"} xref: Orphanet:517 {source="MONDO:equivalentTo", source="GARD:0000529"} xref: SCTID:110005000 {source="MONDO:equivalentTo"} xref: SCTID:30962008 {source="EFO:0000223"} -xref: UMLS:C0023479 {source="NCIT:C7463", source="ORDO:517/e", source="MONDO:equivalentTo", source="Orphanet:517"} +xref: UMLS:C0023479 {source="NCIT:C7463", source="MONDO:equivalentTo", source="Orphanet:517", source="Orphanet:517/e"} is_a: MONDO:0015667 {source="NCIT:C7463"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000223"} ! bilineal acute myeloid leukemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia xsd:anyURI {source="GARD:0000529"} @@ -361456,7 +361294,7 @@ synonym: "thrombocytic leukaemia" EXACT [DOID:8761] xref: DOID:8761 {source="MONDO:equivalentTo"} xref: EFO:0003025 {source="MONDO:equivalentTo"} xref: GARD:0000524 {source="MONDO:equivalentTo"} -xref: ICD10CM:C94.2 {source="ORDO:518/ntbt", source="Orphanet:518", source="DOID:8761"} +xref: ICD10CM:C94.2 {source="Orphanet:518", source="DOID:8761", source="Orphanet:518/ntbt"} xref: ICD10CM:C94.20 {source="DOID:8761"} xref: ICD9:207.2 {source="DOID:8761"} xref: ICDO:9910/3 {source="NCIT:C3170"} @@ -361526,17 +361364,17 @@ xref: DOID:9119 {source="EFO:0000222", source="MONDO:equivalentTo"} xref: EFO:0000222 {source="MONDO:equivalentTo"} xref: GARD:0000537 {source="MONDO:equivalentTo"} xref: GARD:0012757 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.0 {source="DOID:9119", source="ORDO:519/e", source="Orphanet:519"} +xref: ICD10CM:C92.0 {source="DOID:9119", source="Orphanet:519", source="Orphanet:519/e"} xref: ICD10CM:C92.00 {source="DOID:9119"} xref: ICD9:205.0 {source="DOID:9119", source="EFO:0000222"} xref: ICD9:205.00 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9861/3 {source="NCIT:C3171"} xref: KEGG:05221 {source="DOID:9119", source="MONDO:relatedTo"} -xref: MedDRA:10000880 {source="ORDO:519/e", source="Orphanet:519"} -xref: MESH:D015470 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519"} +xref: MedDRA:10000880 {source="Orphanet:519", source="Orphanet:519/e"} +xref: MESH:D015470 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="Orphanet:519", source="Orphanet:519/e"} xref: NCIT:C27753 {source="DOID:9119"} xref: NCIT:C3171 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo"} -xref: OMIM:601626 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519"} +xref: OMIM:601626 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="Orphanet:519", source="Orphanet:519/e"} xref: ONCOTREE:AML {source="MONDO:equivalentTo"} xref: Orphanet:519 {source="MONDO:equivalentTo"} xref: SCTID:154591002 {source="DOID:9119"} @@ -361544,8 +361382,8 @@ xref: SCTID:17788007 {source="DOID:9119", source="EFO:0000222"} xref: SCTID:277600006 {source="DOID:9119"} xref: SCTID:413443009 {source="DOID:9119", source="EFO:0000222"} xref: SCTID:91861009 {source="DOID:9119", source="MONDO:equivalentTo"} -xref: UMLS:C0023467 {source="NCIT:C3171", source="DOID:9119", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:519/e", source="Orphanet:519", source="GARD:0000537", source="OMIM:601626"} -xref: UMLS:C1879321 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:519/e", source="Orphanet:519"} +xref: UMLS:C0023467 {source="NCIT:C3171", source="DOID:9119", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:519", source="GARD:0000537", source="OMIM:601626", source="Orphanet:519/e"} +xref: UMLS:C1879321 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:519", source="Orphanet:519/e"} xref: UMLS:C3275959 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:601626"} is_a: MONDO:0004643 {source="DOID:9119", source="MESH:D015470", source="MONDO:Redundant", source="NCIT:C3171", source="linkedlifedata"} ! myeloid leukemia is_a: MONDO:0005170 {source="EFO:0000222", source="MONDO:Redundant", source="NCIT:C3171/inferred", source="ONCOTREE:AML/inferred"} ! myeloid neoplasm @@ -361573,18 +361411,18 @@ synonym: "SBLA syndrome" EXACT [DOID:3012] synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED [GARD:0006902] xref: DOID:3012 {source="MONDO:equivalentTo"} xref: GARD:0006902 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D48.9 {source="Orphanet:524", source="ORDO:524/attributed", source="ORDO:524/ntbt"} +xref: ICD10CM:D48.9 {source="Orphanet:524", source="Orphanet:524/attributed", source="Orphanet:524/ntbt"} xref: ICD9:V84.01 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066795 {source="ORDO:524/e", source="Orphanet:524"} -xref: MESH:D016864 {source="DOID:3012", source="ORDO:524/e", source="Orphanet:524", source="MONDO:equivalentTo"} +xref: MedDRA:10066795 {source="Orphanet:524", source="Orphanet:524/e"} +xref: MESH:D016864 {source="DOID:3012", source="Orphanet:524", source="MONDO:equivalentTo", source="Orphanet:524/e"} xref: NCIT:C3476 {source="DOID:3012", source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:151623 {source="DOID:3012", source="ORDO:524/e", source="Orphanet:524", source="MONDO:superClassOf"} -xref: OMIM:609265 {source="DOID:3012", source="Orphanet:524", source="MONDO:superClassOf", source="ORDO:524/btnt"} -xref: OMIM:609266 {source="DOID:3012", source="Orphanet:524", source="MONDO:superClassOf", source="ORDO:524/btnt"} +xref: OMIM:151623 {source="DOID:3012", source="Orphanet:524", source="MONDO:superClassOf", source="Orphanet:524/e"} +xref: OMIM:609265 {source="DOID:3012", source="Orphanet:524", source="Orphanet:524/btnt", source="MONDO:superClassOf"} +xref: OMIM:609266 {source="DOID:3012", source="Orphanet:524", source="Orphanet:524/btnt", source="MONDO:superClassOf"} xref: OMIMPS:151623 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:524 {source="DOID:3012", source="MONDO:equivalentTo"} xref: SCTID:428850001 {source="DOID:3012", source="MONDO:equivalentTo"} -xref: UMLS:C0085390 {source="DOID:3012", source="ORDO:524/e", source="Orphanet:524", source="MONDO:equivalentTo", source="NCIT:C3476"} +xref: UMLS:C0085390 {source="DOID:3012", source="Orphanet:524", source="MONDO:equivalentTo", source="Orphanet:524/e", source="NCIT:C3476"} is_a: MONDO:0000426 {source="DOID:3012", source="MONDO:Redundant", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D016864", source="NCIT:C3476", source="Orphanet:524", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:524"} ! inherited nervous system cancer-predisposing syndrome @@ -361605,11 +361443,11 @@ synonym: "MCL" EXACT ABBREVIATION [NCIT:C4337, Orphanet:52416] xref: DOID:0050746 {source="MONDO:equivalentTo"} xref: EFO:1001469 {source="MONDO:equivalentTo"} xref: GARD:0006969 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C83.1 {source="ORDO:52416/e", source="Orphanet:52416"} +xref: ICD10CM:C83.1 {source="Orphanet:52416", source="Orphanet:52416/e"} xref: ICD9:200.40 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9673/3 {source="NCIT:C4337"} -xref: MedDRA:10061275 {source="ORDO:52416/e", source="Orphanet:52416"} -xref: MESH:D020522 {source="ORDO:52416/e", source="MONDO:equivalentTo", source="DOID:0050746", source="Orphanet:52416"} +xref: MedDRA:10061275 {source="Orphanet:52416", source="Orphanet:52416/e"} +xref: MESH:D020522 {source="MONDO:equivalentTo", source="DOID:0050746", source="Orphanet:52416", source="Orphanet:52416/e"} xref: NCIT:C4337 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:MCL {source="MONDO:equivalentTo"} xref: Orphanet:52416 {source="MONDO:equivalentTo"} @@ -361622,8 +361460,8 @@ is_a: MONDO:0017595 {source="Orphanet:52416"} ! aggressive B-cell non-Hodgkin ly id: MONDO:0018877 name: retinitis punctata albescens subset: ordo_disease {source="Orphanet:52427"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:52427/index", source="ORDO:52427/ntbt", source="Orphanet:52427"} -xref: OMIM:136880 {source="MONDO:subClassOf", source="ORDO:52427/ntbt", source="Orphanet:52427"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:52427", source="Orphanet:52427/index", source="Orphanet:52427/ntbt"} +xref: OMIM:136880 {source="MONDO:subClassOf", source="Orphanet:52427", source="Orphanet:52427/ntbt"} xref: Orphanet:52427 {source="MONDO:equivalentTo"} xref: SCTID:715562001 {source="MONDO:equivalentTo"} xref: UMLS:C0311338 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52427"} @@ -361644,10 +361482,10 @@ synonym: "bor" EXACT [DOID:0060232] synonym: "branchiootic dysplasia" EXACT [DOID:0060232] xref: DOID:0060232 {source="MONDO:equivalentTo"} xref: GARD:0010148 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="DOID:0060232", source="ORDO:52429/attributed", source="ORDO:52429/ntbt", source="Orphanet:52429"} -xref: OMIM:120502 {source="DOID:0060232", source="ORDO:52429/btnt", source="MONDO:superClassOf", source="Orphanet:52429"} -xref: OMIM:602588 {source="DOID:0060232", source="ORDO:52429/e", source="MONDO:superClassOf", source="Orphanet:52429"} -xref: OMIM:608389 {source="DOID:0060232", source="ORDO:52429/btnt", source="MONDO:superClassOf", source="Orphanet:52429"} +xref: ICD10CM:Q87.0 {source="DOID:0060232", source="Orphanet:52429/attributed", source="Orphanet:52429/ntbt", source="Orphanet:52429"} +xref: OMIM:120502 {source="DOID:0060232", source="MONDO:superClassOf", source="Orphanet:52429/btnt", source="Orphanet:52429"} +xref: OMIM:602588 {source="Orphanet:52429/e", source="DOID:0060232", source="MONDO:superClassOf", source="Orphanet:52429"} +xref: OMIM:608389 {source="DOID:0060232", source="MONDO:superClassOf", source="Orphanet:52429/btnt", source="Orphanet:52429"} xref: Orphanet:52429 {source="DOID:0060232", source="MONDO:equivalentTo"} xref: SCTID:764810000 {source="MONDO:equivalentTo"} xref: UMLS:CN205225 {source="MONDO:equivalentTo"} @@ -361671,11 +361509,11 @@ synonym: "lichen planopilaris classic type" RELATED [GARD:0003247] synonym: "lichen planus follicularis" EXACT [Orphanet:525] synonym: "LPP" EXACT ABBREVIATION [Orphanet:525] xref: GARD:0003247 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L66.1 {source="ORDO:525/e", source="Orphanet:525", source="MONDO:equivalentTo"} -xref: MESH:C535892 {source="ORDO:525/e", source="Orphanet:525", source="MONDO:equivalentTo"} +xref: ICD10CM:L66.1 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} +xref: MESH:C535892 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} xref: Orphanet:525 {source="MONDO:equivalentTo"} xref: SCTID:64540004 {source="MONDO:equivalentTo"} -xref: UMLS:C0023645 {source="ORDO:525/e", source="Orphanet:525", source="MONDO:equivalentTo"} +xref: UMLS:C0023645 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} is_a: MONDO:0004907 {source="Orphanet:525"} ! alopecia [Term] @@ -361719,16 +361557,16 @@ xref: ICD10CM:D37-D48 {source="MONDO:subClassOf", source="https://github.com/mon xref: ICD9:238.7 {source="DOID:0050908"} xref: ICD9:238.75 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9989/3 {source="NCIT:C3247"} -xref: MedDRA:10028532 {source="ORDO:52688/e", source="Orphanet:52688"} -xref: MESH:D009190 {source="DOID:0050908", source="EFO:0000198", source="ORDO:52688/e", source="Orphanet:52688"} +xref: MedDRA:10028532 {source="Orphanet:52688", source="Orphanet:52688/e"} +xref: MESH:D009190 {source="DOID:0050908", source="EFO:0000198", source="Orphanet:52688", source="Orphanet:52688/e"} xref: MESH:D011289 {source="EFO:0000198"} xref: NCIT:C3247 {source="EFO:0000198", source="MONDO:equivalentTo"} -xref: OMIM:614286 {source="DOID:0050908", source="EFO:0000198", source="ORDO:52688/e", source="Orphanet:52688", source="MONDO:equivalentTo"} +xref: OMIM:614286 {source="DOID:0050908", source="EFO:0000198", source="Orphanet:52688", source="MONDO:equivalentTo", source="Orphanet:52688/e"} xref: ONCOTREE:MDS {source="MONDO:equivalentTo"} xref: Orphanet:52688 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="OMIM:614286"} xref: SCTID:109995007 {source="MONDO:equivalentTo"} xref: SCTID:128623006 {source="EFO:0000198"} -xref: UMLS:C0026985 {source="ORDO:52688/e", source="Orphanet:52688", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0026985 {source="Orphanet:52688", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52688/e"} xref: UMLS:C0026986 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0033027 {source="MONDO:equivalentTo"} xref: UMLS:C2713368 {source="DOID:0050908", source="MONDO:notFoundInDiseaseSubset"} @@ -361750,10 +361588,10 @@ synonym: "systemic vasculitis" NARROW [Orphanet:52759] xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"} xref: EFO:0006803 {source="MONDO:equivalentTo"} xref: GARD:0009565 {source="MONDO:equivalentTo"} -xref: MedDRA:10036023 {source="ORDO:52759/e", source="Orphanet:52759"} -xref: MedDRA:10047115 {source="ORDO:52759/e", source="Orphanet:52759"} -xref: MESH:D014657 {source="DOID:865", source="MONDO:equivalentTo", source="ORDO:52759/e", source="EFO:0006803", source="Orphanet:52759"} -xref: MESH:D056647 {source="ORDO:52759/e", source="Orphanet:52759"} +xref: MedDRA:10036023 {source="Orphanet:52759/e", source="Orphanet:52759"} +xref: MedDRA:10047115 {source="Orphanet:52759/e", source="Orphanet:52759"} +xref: MESH:D014657 {source="Orphanet:52759/e", source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="Orphanet:52759"} +xref: MESH:D056647 {source="Orphanet:52759/e", source="Orphanet:52759"} xref: NCIT:C26912 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="exact-label-match"} xref: OMIM:615688 {source="MONDO:superClassOf", source="EFO:0006803"} xref: Orphanet:52759 {source="MONDO:equivalentTo"} @@ -361761,8 +361599,8 @@ xref: SCTID:195375002 {source="DOID:865"} xref: SCTID:266325003 {source="DOID:865"} xref: SCTID:31996006 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803"} xref: SCTID:393589007 {source="DOID:865"} -xref: UMLS:C0042384 {source="DOID:865", source="MONDO:equivalentTo", source="ORDO:52759/e", source="Orphanet:52759", source="NCIT:C26912"} -xref: UMLS:C0264939 {source="ORDO:52759/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52759"} +xref: UMLS:C0042384 {source="Orphanet:52759/e", source="DOID:865", source="MONDO:equivalentTo", source="Orphanet:52759", source="NCIT:C26912"} +xref: UMLS:C0264939 {source="Orphanet:52759/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52759"} xref: Wikipedia:Vasculitis {source="EFO:0006803"} is_a: MONDO:0000001 ! disease or disorder is_a: MONDO:0005385 {source="Orphanet:52759"} ! vascular disorder @@ -361787,16 +361625,16 @@ synonym: "Lawrence-Seip syndrome" EXACT [NCIT:C84594] synonym: "lipoatrophic diabetes" EXACT [Orphanet:528] synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594] synonym: "total lipodystrophy" EXACT [NCIT:C84594] -xref: ICD10CM:E88.1 {source="ORDO:528/attributed", source="ORDO:528/ntbt", source="Orphanet:528"} +xref: ICD10CM:E88.1 {source="Orphanet:528", source="Orphanet:528/attributed", source="Orphanet:528/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10024603 {source="ORDO:528/e", source="Orphanet:528"} +xref: MedDRA:10024603 {source="Orphanet:528", source="Orphanet:528/e"} xref: NCIT:C84594 {source="MONDO:equivalentTo"} -xref: OMIM:269700 {source="ORDO:528/btnt", source="Orphanet:528", source="MONDO:superClassOf"} -xref: OMIM:608594 {source="ORDO:528/btnt", source="Orphanet:528", source="MONDO:superClassOf"} -xref: OMIM:612526 {source="ORDO:528/btnt", source="Orphanet:528", source="MONDO:superClassOf"} +xref: OMIM:269700 {source="Orphanet:528", source="MONDO:superClassOf", source="Orphanet:528/btnt"} +xref: OMIM:608594 {source="Orphanet:528", source="MONDO:superClassOf", source="Orphanet:528/btnt"} +xref: OMIM:612526 {source="Orphanet:528", source="MONDO:superClassOf", source="Orphanet:528/btnt"} xref: Orphanet:528 {source="MONDO:equivalentTo"} xref: SCTID:127012008 {source="MONDO:relatedTo"} -xref: UMLS:C0011859 {source="ORDO:528/e", source="Orphanet:528", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0011859 {source="Orphanet:528", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:528/e"} xref: UMLS:C0221032 {source="Orphanet:528", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C84594"} is_a: MONDO:0006573 {source="MONDO:Redundant", source="NCIT:C84594", source="indirect", source="linkedlifedata"} ! lipodystrophy is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:528"} ! genetic lipodystrophy @@ -361815,7 +361653,7 @@ subset: gard_rare {source="GARD:0004733"} subset: ordo_disease {source="Orphanet:529"} synonym: "Roch-Leri syndrome" RELATED [GARD:0004733] xref: GARD:0004733 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.2 {source="ORDO:529/attributed", source="ORDO:529/ntbt", source="Orphanet:529"} +xref: ICD10CM:E88.2 {source="Orphanet:529", source="Orphanet:529/attributed", source="Orphanet:529/ntbt"} xref: Orphanet:529 {source="MONDO:equivalentTo"} xref: SCTID:716772007 {source="MONDO:equivalentTo"} xref: UMLS:C4274284 {source="MONDO:equivalentTo"} @@ -361828,7 +361666,7 @@ id: MONDO:0018885 name: orbital leiomyoma def: "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." [Orphanet:52994] subset: ordo_disease {source="Orphanet:52994"} -xref: ICD10CM:D31.6 {source="Orphanet:52994", source="ORDO:52994/ntbt"} +xref: ICD10CM:D31.6 {source="Orphanet:52994", source="Orphanet:52994/ntbt"} xref: Orphanet:52994 {source="MONDO:equivalentTo"} xref: SCTID:719045009 {source="MONDO:equivalentTo"} xref: UMLS:C4305000 {source="MONDO:equivalentTo"} @@ -361854,20 +361692,20 @@ xref: Orphanet:535 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0005282 -consider: ICD10CM:L93.0 {source="Orphanet:535", source="MONDO:superClassOf", source="ORDO:535/btnt"} -consider: ICD10CM:L93.1 {source="Orphanet:535", source="MONDO:superClassOf", source="ORDO:535/btnt"} -consider: ICD10CM:L93.2 {source="Orphanet:535", source="ORDO:535/btnt"} -consider: MedDRA:10056509 {source="ORDO:535/e", source="Orphanet:535"} -consider: MESH:D008178 {source="ORDO:535/e", source="Orphanet:535", source="MONDO:relatedTo"} -consider: UMLS:C0024137 {source="ORDO:535/e", source="Orphanet:535", source="MONDO:relatedTo"} +consider: ICD10CM:L93.0 {source="Orphanet:535", source="Orphanet:535/btnt", source="MONDO:superClassOf"} +consider: ICD10CM:L93.1 {source="Orphanet:535", source="Orphanet:535/btnt", source="MONDO:superClassOf"} +consider: ICD10CM:L93.2 {source="Orphanet:535", source="Orphanet:535/btnt"} +consider: MedDRA:10056509 {source="Orphanet:535", source="Orphanet:535/e"} +consider: MESH:D008178 {source="Orphanet:535", source="MONDO:relatedTo", source="Orphanet:535/e"} +consider: UMLS:C0024137 {source="Orphanet:535", source="MONDO:relatedTo", source="Orphanet:535/e"} [Term] id: MONDO:0018888 name: congenital cornea plana subset: ordo_morphological_anomaly {source="Orphanet:53691"} -xref: ICD10CM:Q13.4 {source="ORDO:53691/attributed", source="ORDO:53691/ntbt", source="Orphanet:53691"} -xref: OMIM:121400 {source="ORDO:53691/btnt", source="MONDO:superClassOf", source="Orphanet:53691"} -xref: OMIM:217300 {source="ORDO:53691/btnt", source="MONDO:superClassOf", source="Orphanet:53691"} +xref: ICD10CM:Q13.4 {source="Orphanet:53691/attributed", source="Orphanet:53691/ntbt", source="Orphanet:53691"} +xref: OMIM:121400 {source="MONDO:superClassOf", source="Orphanet:53691/btnt", source="Orphanet:53691"} +xref: OMIM:217300 {source="MONDO:superClassOf", source="Orphanet:53691/btnt", source="Orphanet:53691"} xref: Orphanet:53691 {source="MONDO:equivalentTo"} is_a: MONDO:0000733 ! cornea plana is_a: MONDO:0005328 {source="MONDO:0020209-obsoleted"} ! eye disorder @@ -361882,9 +361720,9 @@ subset: ordo_disease {source="Orphanet:53698"} synonym: "myosin storage myopathy" RELATED [GARD:0007148] xref: DOID:0111267 {source="MONDO:equivalentTo"} xref: GARD:0007148 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="Orphanet:53698", source="ORDO:53698/attributed", source="ORDO:53698/ntbt"} -xref: OMIM:255160 {source="Orphanet:53698", source="MONDO:superClassOf", source="ORDO:53698/btnt"} -xref: OMIM:608358 {source="Orphanet:53698", source="MONDO:superClassOf", source="ORDO:53698/btnt"} +xref: ICD10CM:G71.2 {source="Orphanet:53698", source="Orphanet:53698/attributed", source="Orphanet:53698/ntbt"} +xref: OMIM:255160 {source="Orphanet:53698", source="Orphanet:53698/btnt", source="MONDO:superClassOf"} +xref: OMIM:608358 {source="Orphanet:53698", source="Orphanet:53698/btnt", source="MONDO:superClassOf"} xref: Orphanet:53698 {source="MONDO:equivalentTo"} is_a: MONDO:0016195 {source="Orphanet:53698"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0019952 {source="Orphanet:53698"} ! congenital myopathy @@ -361894,7 +361732,7 @@ id: MONDO:0018890 name: Lyell syndrome def: "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." [Orphanet:537] subset: ordo_clinical_subtype {source="Orphanet:537"} -xref: ICD10CM:L51.2 {source="Orphanet:537", source="ORDO:537/ntbt"} +xref: ICD10CM:L51.2 {source="Orphanet:537/ntbt", source="Orphanet:537"} xref: Orphanet:537 {source="MONDO:equivalentTo"} xref: UMLS:C0014518 {source="MONDO:subClassOf", source="Orphanet:537"} xref: UMLS:CN205258 {source="MONDO:equivalentTo"} @@ -361907,12 +361745,12 @@ def: "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly amo subset: gard_rare {source="GARD:0010877"} subset: ordo_disease {source="Orphanet:53715"} xref: GARD:0010877 {source="MONDO:equivalentTo"} -xref: ICD10CM:M11.2 {source="ORDO:53715/attributed", source="ORDO:53715/ntbt", source="Orphanet:53715"} -xref: MedDRA:10059364 {source="ORDO:53715/e", source="Orphanet:53715"} -xref: OMIM:211900 {source="ORDO:53715/btnt", source="MONDO:superClassOf", source="Orphanet:53715"} -xref: OMIM:610455 {source="ORDO:53715/btnt", source="MONDO:superClassOf", source="Orphanet:53715"} +xref: ICD10CM:M11.2 {source="Orphanet:53715", source="Orphanet:53715/attributed", source="Orphanet:53715/ntbt"} +xref: MedDRA:10059364 {source="Orphanet:53715", source="Orphanet:53715/e"} +xref: OMIM:211900 {source="MONDO:superClassOf", source="Orphanet:53715", source="Orphanet:53715/btnt"} +xref: OMIM:610455 {source="MONDO:superClassOf", source="Orphanet:53715", source="Orphanet:53715/btnt"} xref: Orphanet:53715 {source="MONDO:equivalentTo"} -xref: UMLS:C0263628 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:53715/e", source="Orphanet:53715"} +xref: UMLS:C0263628 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:53715", source="Orphanet:53715/e"} is_a: MONDO:0002082 {source="MONDO:Redundant", source="Orphanet:53715", source="indirect"} ! endocrine gland neoplasm is_a: MONDO:0002123 ! calcinosis is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disorder @@ -361933,12 +361771,12 @@ synonym: "Cerebrofacial arteriovenous metameric syndrome type 2" EXACT [Orphanet synonym: "Wyburn Mason syndrome" RELATED [GARD:0007900] synonym: "Wyburn Mason's syndrome" RELATED [GARD:0007900] xref: GARD:0007900 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q28.2 {source="ORDO:53719/attributed", source="ORDO:53719/ntbt", source="Orphanet:53719"} -xref: MedDRA:10048661 {source="ORDO:53719/e", source="Orphanet:53719"} -xref: MESH:C536752 {source="MONDO:equivalentTo", source="ORDO:53719/e", source="Orphanet:53719"} +xref: ICD10CM:Q28.2 {source="Orphanet:53719/attributed", source="Orphanet:53719/ntbt", source="Orphanet:53719"} +xref: MedDRA:10048661 {source="Orphanet:53719/e", source="Orphanet:53719"} +xref: MESH:C536752 {source="Orphanet:53719/e", source="MONDO:equivalentTo", source="Orphanet:53719"} xref: Orphanet:53719 {source="MONDO:equivalentTo"} xref: SCTID:6729006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265321 {source="MONDO:equivalentTo", source="ORDO:53719/e", source="Orphanet:53719"} +xref: UMLS:C0265321 {source="Orphanet:53719/e", source="MONDO:equivalentTo", source="Orphanet:53719"} is_a: MONDO:0002235 ! eyelid neoplasm is_a: MONDO:0015405 {source="Orphanet:53719", source="linkedlifedata"} ! cerebrofacial arteriovenous metameric syndrome is_a: MONDO:0019293 {source="Orphanet:53719"} ! skin vascular disease @@ -361955,13 +361793,13 @@ synonym: "cutaneomeningospinal angiomatosis" EXACT [Orphanet:53721] synonym: "SAMS 1-31" EXACT [Orphanet:53721] synonym: "spinal arteriovenous metameric syndrome" EXACT [Orphanet:53721] xref: GARD:0011892 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q27.3 {source="Orphanet:53721", source="ORDO:53721/ntbt"} +xref: ICD10CM:Q27.3 {source="Orphanet:53721/ntbt", source="Orphanet:53721"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068841 {source="ORDO:53721/e", source="Orphanet:53721"} +xref: MedDRA:10068841 {source="Orphanet:53721", source="Orphanet:53721/e"} xref: NCIT:C4485 {source="MONDO:equivalentTo"} xref: Orphanet:53721 {source="MONDO:equivalentTo"} xref: SCTID:254774003 {source="MONDO:equivalentTo"} -xref: UMLS:C0346068 {source="ORDO:53721/e", source="NCIT:C4485", source="Orphanet:53721", source="MONDO:equivalentTo"} +xref: UMLS:C0346068 {source="NCIT:C4485", source="Orphanet:53721", source="MONDO:equivalentTo", source="Orphanet:53721/e"} is_a: MONDO:0001256 {source="Orphanet:53721"} ! arteriovenous hemangioma/malformation is_a: MONDO:0015145 {source="Orphanet:53721"} ! neurovascular malformation is_a: MONDO:0015356 {source="NCIT:C4485"} ! hereditary neoplastic syndrome @@ -361981,7 +361819,7 @@ synonym: "dSMA" EXACT [Orphanet:53739] xref: GARD:0012683 {source="MONDO:equivalentTo"} xref: Orphanet:53739 {source="MONDO:equivalentTo"} xref: SCTID:230247001 {source="MONDO:equivalentTo"} -xref: UMLS:C0393541 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:53739/e", source="Orphanet:53739"} +xref: UMLS:C0393541 {source="Orphanet:53739/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:53739"} is_a: MONDO:0020127 {source="Orphanet:53739"} ! genetic peripheral neuropathy is_a: MONDO:0020128 {source="Orphanet:53739", source="Orphanet:53739/inferred"} ! motor neuron disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy xsd:anyURI {source="GARD:0012683"} @@ -362002,14 +361840,14 @@ synonym: "Paterson’s syndrome" RELATED [GARD:0008259] synonym: "Plummer Vinson syndrome" RELATED [GARD:0008259] synonym: "Sideropenic dysphagia" EXACT [Orphanet:54028] xref: GARD:0008259 {source="MONDO:equivalentTo"} -xref: ICD10CM:D50.1 {source="Orphanet:54028", source="ORDO:54028/ntbt"} +xref: ICD10CM:D50.1 {source="Orphanet:54028", source="Orphanet:54028/ntbt"} xref: ICD9:280.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10040664 {source="ORDO:54028/e", source="Orphanet:54028"} -xref: MESH:D011004 {source="ORDO:54028/e", source="Orphanet:54028", source="MONDO:equivalentTo"} +xref: MedDRA:10040664 {source="Orphanet:54028", source="Orphanet:54028/e"} +xref: MESH:D011004 {source="Orphanet:54028", source="MONDO:equivalentTo", source="Orphanet:54028/e"} xref: NCIT:C85016 {source="MONDO:equivalentTo"} xref: Orphanet:54028 {source="MONDO:equivalentTo"} xref: SCTID:80126007 {source="MONDO:equivalentTo"} -xref: UMLS:C0032249 {source="ORDO:54028/e", source="Orphanet:54028", source="MONDO:equivalentTo", source="NCIT:C85016"} +xref: UMLS:C0032249 {source="Orphanet:54028", source="MONDO:equivalentTo", source="Orphanet:54028/e", source="NCIT:C85016"} is_a: MONDO:0002254 {source="NCIT:C85016"} ! syndromic disease is_a: MONDO:0015111 {source="Orphanet:54028"} ! gastroesophageal disease is_a: MONDO:0016625 {source="Orphanet:54028"} ! acquired deficiency anemia @@ -362025,18 +361863,18 @@ synonym: "Moschcowitz's syndrome" EXACT [DOID:10772] synonym: "Moschowitz disease" EXACT [NCIT:C78797] synonym: "TTP" EXACT ABBREVIATION [Orphanet:54057] xref: DOID:10772 {source="MONDO:equivalentTo"} -xref: ICD10CM:M31.1 {source="MONDO:subClassOf", source="ORDO:54057/ntbt", source="Orphanet:54057", source="DOID:10772"} -xref: MedDRA:10043648 {source="ORDO:54057/e", source="Orphanet:54057"} -xref: MESH:D011697 {source="MONDO:equivalentTo", source="ORDO:54057/e", source="Orphanet:54057", source="DOID:10772"} +xref: ICD10CM:M31.1 {source="MONDO:subClassOf", source="Orphanet:54057/ntbt", source="Orphanet:54057", source="DOID:10772"} +xref: MedDRA:10043648 {source="Orphanet:54057/e", source="Orphanet:54057"} +xref: MESH:D011697 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="Orphanet:54057", source="DOID:10772"} xref: NCIT:C78797 {source="MONDO:equivalentTo", source="DOID:10772"} -xref: OMIM:274150 {source="MONDO:superClassOf", source="ORDO:54057/btnt", source="Orphanet:54057"} +xref: OMIM:274150 {source="MONDO:superClassOf", source="Orphanet:54057/btnt", source="Orphanet:54057"} xref: Orphanet:54057 {source="MONDO:equivalentTo"} xref: SCTID:155443009 {source="DOID:10772"} xref: SCTID:195358008 {source="DOID:10772"} xref: SCTID:195359000 {source="DOID:10772"} xref: SCTID:360402008 {source="DOID:10772"} xref: SCTID:78129009 {source="MONDO:equivalentTo", source="DOID:10772"} -xref: UMLS:C0034155 {source="MONDO:equivalentTo", source="NCIT:C78797", source="ORDO:54057/e", source="Orphanet:54057", source="DOID:10772"} +xref: UMLS:C0034155 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="NCIT:C78797", source="Orphanet:54057", source="DOID:10772"} is_a: MONDO:0002305 {source="DOID:10772", source="MESH:D011697"} ! thrombophilia is_a: MONDO:0019737 {source="MESH:D011697/inferred", source="NCIT:C78797", source="Orphanet:54057", source="indirect", source="linkedlifedata"} ! thrombotic microangiopathy is_a: MONDO:0043768 {source="MESH:D011697", source="NCIT:C78797", source="linkedlifedata"} ! thrombocytopenic purpura @@ -362047,12 +361885,12 @@ name: primary cutaneous CD30+ T-cell lymphoproliferative disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:541"} synonym: "primary cutaneous Ki-1+ T-cell lymphoproliferative disease" EXACT [Orphanet:541] -xref: ICD10CM:C86.6 {source="ORDO:541/e", source="Orphanet:541"} -xref: MedDRA:10065863 {source="ORDO:541/e", source="Orphanet:541"} -xref: MESH:D054446 {source="MONDO:superClassOf", source="ORDO:541/e", source="Orphanet:541"} +xref: ICD10CM:C86.6 {source="Orphanet:541/e", source="Orphanet:541"} +xref: MedDRA:10065863 {source="Orphanet:541/e", source="Orphanet:541"} +xref: MESH:D054446 {source="Orphanet:541/e", source="MONDO:superClassOf", source="Orphanet:541"} xref: Orphanet:541 {source="MONDO:equivalentTo"} -xref: UMLS:C1301362 {source="MONDO:superClassOf", source="ORDO:541/e", source="Orphanet:541"} -xref: UMLS:C1698767 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:541/e", source="Orphanet:541"} +xref: UMLS:C1301362 {source="Orphanet:541/e", source="MONDO:superClassOf", source="Orphanet:541"} +xref: UMLS:C1698767 {source="Orphanet:541/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:541"} xref: UMLS:CN205268 {source="MONDO:equivalentTo"} is_a: MONDO:0015816 {source="Orphanet:541"} ! indolent primary cutaneous T-cell lymphoma @@ -362065,12 +361903,12 @@ subset: ordo_group_of_disorders {source="Orphanet:542"} synonym: "cutaneous (skin) lymphoma" EXACT [NCIT:C7162] synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162] synonym: "primary skin lymphoma" EXACT [NCIT:C7162] -xref: MedDRA:10051708 {source="ORDO:542/e", source="Orphanet:542"} +xref: MedDRA:10051708 {source="Orphanet:542/e", source="Orphanet:542"} xref: NCIT:C7162 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:542 {source="MONDO:equivalentTo"} xref: SCTID:400001003 {source="MONDO:equivalentTo"} -xref: UMLS:C1276146 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:542/e", source="Orphanet:542"} -xref: UMLS:C1302772 {source="MONDO:equivalentTo", source="ORDO:542/e", source="Orphanet:542", source="NCIT:C7162"} +xref: UMLS:C1276146 {source="Orphanet:542/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:542"} +xref: UMLS:C1302772 {source="Orphanet:542/e", source="MONDO:equivalentTo", source="Orphanet:542", source="NCIT:C7162"} is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C7162", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin cancer is_a: MONDO:0017207 {source="Orphanet:542"} ! primary organ-specific lymphoma relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:542"} ! obsolete rare skin tumor or hamartoma @@ -362083,7 +361921,7 @@ subset: ordo_disease {source="Orphanet:54247"} synonym: "Benson syndrome" EXACT [Orphanet:54247] synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247] synonym: "PCA" EXACT ABBREVIATION [Orphanet:54247] -xref: ICD10CM:G31.1 {source="Orphanet:54247", source="ORDO:54247/attributed", source="ORDO:54247/ntbt"} +xref: ICD10CM:G31.1 {source="Orphanet:54247/attributed", source="Orphanet:54247/ntbt", source="Orphanet:54247"} xref: Orphanet:54247 {source="MONDO:equivalentTo"} xref: SCTID:715574002 {source="MONDO:equivalentTo"} xref: UMLS:CN205270 {source="MONDO:equivalentTo"} @@ -362120,21 +361958,21 @@ synonym: "LVNC" EXACT ABBREVIATION [Orphanet:54260] synonym: "spongy myocardium" EXACT [Orphanet:54260] xref: DOID:0060480 {source="MONDO:equivalentTo"} xref: GARD:0010985 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.8 {source="ORDO:54260/attributed", source="ORDO:54260/ntbt", source="Orphanet:54260"} +xref: ICD10CM:I42.8 {source="Orphanet:54260", source="Orphanet:54260/attributed", source="Orphanet:54260/ntbt"} xref: NCIT:C99544 {source="MONDO:equivalentTo"} -xref: OMIM:601493 {source="ORDO:54260/ntbt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:601494 {source="ORDO:54260/ntbt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:604169 {source="MONDO:superClassOf", source="ORDO:54260/e", source="Orphanet:54260", source="DOID:0060480"} -xref: OMIM:609470 {source="ORDO:54260/btnt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:611878 {source="ORDO:54260/ntbt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:613424 {source="ORDO:54260/ntbt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:613426 {source="ORDO:54260/ntbt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:615092 {source="ORDO:54260/btnt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:615373 {source="ORDO:54260/btnt", source="MONDO:superClassOf", source="Orphanet:54260"} -xref: OMIM:615396 {source="ORDO:54260/btnt", source="MONDO:superClassOf", source="Orphanet:54260"} +xref: OMIM:601493 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/ntbt"} +xref: OMIM:601494 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/ntbt"} +xref: OMIM:604169 {source="MONDO:superClassOf", source="Orphanet:54260", source="DOID:0060480", source="Orphanet:54260/e"} +xref: OMIM:609470 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/btnt"} +xref: OMIM:611878 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/ntbt"} +xref: OMIM:613424 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/ntbt"} +xref: OMIM:613426 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/ntbt"} +xref: OMIM:615092 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/btnt"} +xref: OMIM:615373 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/btnt"} +xref: OMIM:615396 {source="MONDO:superClassOf", source="Orphanet:54260", source="Orphanet:54260/btnt"} xref: OMIMPS:604169 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="MONDO:equivalentTo", source="DOID:0060480"} -xref: UMLS:C1960469 {source="MONDO:equivalentTo", source="ORDO:54260/e", source="Orphanet:54260"} +xref: UMLS:C1960469 {source="MONDO:equivalentTo", source="Orphanet:54260", source="Orphanet:54260/e"} xref: UMLS:C3164472 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C99544"} xref: UMLS:C4021133 {source="MONDO:equivalentTo"} is_a: MONDO:0000591 {source="DOID:0060480", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy @@ -362160,17 +361998,17 @@ synonym: "LIAD" RELATED ABBREVIATION [ONCOTREE:LIAD] synonym: "liver cell adenoma" EXACT [NCIT:C3758] xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"} xref: EFO:0000762 {source="MONDO:equivalentTo"} -xref: ICD10CM:D13.4 {source="ORDO:54272/ntbt", source="Orphanet:54272"} +xref: ICD10CM:D13.4 {source="Orphanet:54272/ntbt", source="Orphanet:54272"} xref: ICDO:8170/0 {source="NCIT:C3758"} -xref: MedDRA:10019827 {source="ORDO:54272/e", source="Orphanet:54272"} -xref: MESH:D018248 {source="MONDO:equivalentTo", source="ORDO:54272/e", source="Orphanet:54272"} +xref: MedDRA:10019827 {source="Orphanet:54272/e", source="Orphanet:54272"} +xref: MESH:D018248 {source="Orphanet:54272/e", source="MONDO:equivalentTo", source="Orphanet:54272"} xref: NCIT:C3758 {source="MONDO:equivalentTo", source="EFO:0000762", source="exact-label-match"} xref: OMIM:114550 {source="MONDO:relatedTo", source="EFO:0000762"} xref: OMIM:142330 {source="EFO:0000762", source="MONDO:superClassOf"} xref: ONCOTREE:LIAD {source="MONDO:equivalentTo"} xref: Orphanet:54272 {source="MONDO:equivalentTo"} xref: SCTID:78058005 {source="EFO:0000762"} -xref: UMLS:C0206669 {source="MONDO:equivalentTo", source="ORDO:54272/e", source="Orphanet:54272", source="NCIT:C3758"} +xref: UMLS:C0206669 {source="Orphanet:54272/e", source="MONDO:equivalentTo", source="Orphanet:54272", source="NCIT:C3758"} is_a: MONDO:0000385 {source="MONDO:Entailed"} ! benign digestive system neoplasm is_a: MONDO:0004972 {source="DOID:0050868", source="EFO:0000762", source="MESH:D018248", source="NCIT:C3758"} ! adenoma is_a: MONDO:0024477 {source="Orphanet:54272"} ! liver and intrahepatic bile duct neoplasm @@ -362185,13 +362023,13 @@ subset: ordo_disease {source="Orphanet:54368"} synonym: "sarcosporidiosis" EXACT [DOID:9640, ICD9CM:136.5, Orphanet:54368] xref: DOID:9640 {source="MONDO:equivalentTo", source="EFO:0007476"} xref: EFO:0007476 {source="MONDO:equivalentTo"} -xref: ICD10CM:A07.8 {source="Orphanet:54368", source="DOID:9640", source="ORDO:54368/ntbt"} +xref: ICD10CM:A07.8 {source="Orphanet:54368/ntbt", source="Orphanet:54368", source="DOID:9640"} xref: ICD9:136.5 {source="MONDO:equivalentTo", source="i2s", source="DOID:9640"} -xref: MedDRA:10039483 {source="Orphanet:54368", source="ORDO:54368/e"} -xref: MESH:D012523 {source="Orphanet:54368", source="MONDO:equivalentTo", source="DOID:9640", source="EFO:0007476", source="ORDO:54368/e"} +xref: MedDRA:10039483 {source="Orphanet:54368", source="Orphanet:54368/e"} +xref: MESH:D012523 {source="Orphanet:54368", source="MONDO:equivalentTo", source="Orphanet:54368/e", source="DOID:9640", source="EFO:0007476"} xref: Orphanet:54368 {source="MONDO:equivalentTo"} xref: SCTID:88905005 {source="MONDO:equivalentTo", source="DOID:9640"} -xref: UMLS:C0036231 {source="Orphanet:54368", source="MONDO:equivalentTo", source="DOID:9640", source="ORDO:54368/e"} +xref: UMLS:C0036231 {source="Orphanet:54368", source="MONDO:equivalentTo", source="Orphanet:54368/e", source="DOID:9640"} is_a: MONDO:0005135 {source="MONDO:Redundant", source="Orphanet:54368"} ! parasitic infectious disease is_a: MONDO:0005707 {source="DOID:9640", source="MESH:D012523", source="linkedlifedata"} ! coccidiosis relationship: disease_has_feature HP:0002716 ! Lymphadenopathy @@ -362208,17 +362046,17 @@ synonym: "membranoproliferative glomerulonephritis" EXACT [NCIT:C34644] synonym: "Mesangiocapillary glomerulonephritis" EXACT [Orphanet:54370] synonym: "MPGN" EXACT ABBREVIATION [Orphanet:54370] xref: GARD:0011982 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N00.5 {source="ORDO:54370/ntbt", source="Orphanet:54370", source="ORDO:54370/inclusion"} +xref: ICD10CM:N00.5 {source="Orphanet:54370/inclusion", source="Orphanet:54370", source="Orphanet:54370/ntbt"} xref: ICD9:583.2 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10018370 {source="ORDO:54370/e", source="Orphanet:54370"} -xref: MESH:D015432 {source="ORDO:54370/e", source="Orphanet:54370"} -xref: OMIM:305800 {source="ORDO:54370/btnt", source="MONDO:superClassOf", source="Orphanet:54370"} -xref: OMIM:609814 {source="ORDO:54370/btnt", source="MONDO:superClassOf", source="Orphanet:54370"} -xref: OMIM:614809 {source="ORDO:54370/btnt", source="MONDO:superClassOf", source="Orphanet:54370"} -xref: OMIM:615008 {source="ORDO:54370/btnt", source="MONDO:superClassOf", source="Orphanet:54370"} +xref: MedDRA:10018370 {source="Orphanet:54370", source="Orphanet:54370/e"} +xref: MESH:D015432 {source="Orphanet:54370", source="Orphanet:54370/e"} +xref: OMIM:305800 {source="MONDO:superClassOf", source="Orphanet:54370", source="Orphanet:54370/btnt"} +xref: OMIM:609814 {source="MONDO:superClassOf", source="Orphanet:54370", source="Orphanet:54370/btnt"} +xref: OMIM:614809 {source="MONDO:superClassOf", source="Orphanet:54370", source="Orphanet:54370/btnt"} +xref: OMIM:615008 {source="MONDO:superClassOf", source="Orphanet:54370", source="Orphanet:54370/btnt"} xref: Orphanet:54370 {source="MONDO:equivalentTo"} xref: SCTID:80321008 {source="MONDO:relatedTo"} -xref: UMLS:C0017662 {source="MONDO:relatedTo", source="ORDO:54370/e", source="Orphanet:54370", source="NCIT:C34644"} +xref: UMLS:C0017662 {source="MONDO:relatedTo", source="Orphanet:54370", source="NCIT:C34644", source="Orphanet:54370/e"} is_a: MONDO:0002462 {source="NCIT:C34644", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis is_a: MONDO:0015163 {source="Orphanet:54370"} ! primary glomerular disease @@ -362234,14 +362072,14 @@ synonym: "DLBCL" EXACT ABBREVIATION [NCIT:C8851, Orphanet:544] xref: DOID:0050745 {source="MONDO:equivalentTo", source="EFO:0000403"} xref: EFO:0000403 {source="MONDO:equivalentTo"} xref: GARD:0003178 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.3 {source="Orphanet:544", source="ORDO:544/e"} +xref: ICD10CM:C83.3 {source="Orphanet:544", source="Orphanet:544/e"} xref: ICD9:200.7 {source="EFO:0000403"} xref: ICDO:9680/3 {source="NCIT:C8851"} -xref: MedDRA:10012818 {source="Orphanet:544", source="ORDO:544/e"} -xref: MESH:D016403 {source="Orphanet:544", source="MONDO:equivalentTo", source="EFO:0000403", source="ORDO:544/e"} +xref: MedDRA:10012818 {source="Orphanet:544", source="Orphanet:544/e"} +xref: MESH:D016403 {source="Orphanet:544", source="MONDO:equivalentTo", source="Orphanet:544/e", source="EFO:0000403"} xref: NCIT:C8851 {source="MONDO:equivalentTo", source="EFO:0000403"} xref: Orphanet:544 {source="MONDO:equivalentTo"} -xref: UMLS:C0079744 {source="Orphanet:544", source="NCIT:C8851", source="MONDO:equivalentTo", source="ORDO:544/e"} +xref: UMLS:C0079744 {source="Orphanet:544", source="NCIT:C8851", source="MONDO:equivalentTo", source="Orphanet:544/e"} is_a: MONDO:0004949 {source="EFO:0000403", source="NCIT:C8851/inferred"} ! neoplasm of mature B-cells is_a: MONDO:0017595 {source="Orphanet:544"} ! aggressive B-cell non-Hodgkin lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma xsd:anyURI {source="GARD:0003178"} @@ -362262,22 +362100,22 @@ synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209] xref: DOID:0050873 {source="MONDO:equivalentTo"} xref: GARD:0002356 {source="MONDO:equivalentTo"} xref: HGNC:990 {source="GARD:0002356"} -xref: ICD10CM:C82.0 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.1 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.2 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.3 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.4 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.5 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.6 {source="Orphanet:545", source="ORDO:545/btnt"} -xref: ICD10CM:C82.9 {source="Orphanet:545", source="ORDO:545/btnt"} +xref: ICD10CM:C82.0 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.1 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.2 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.3 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.4 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.5 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.6 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: ICD10CM:C82.9 {source="Orphanet:545/btnt", source="Orphanet:545"} xref: ICDO:9690/3 {source="NCIT:C3209"} -xref: MESH:D008224 {source="Orphanet:545", source="DOID:0050873", source="MONDO:equivalentTo", source="ORDO:545/e"} +xref: MESH:D008224 {source="Orphanet:545", source="DOID:0050873", source="MONDO:equivalentTo", source="Orphanet:545/e"} xref: NCIT:C3209 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:613024 {source="Orphanet:545", source="MONDO:superClassOf", source="ORDO:545/btnt"} +xref: OMIM:613024 {source="Orphanet:545/btnt", source="Orphanet:545", source="MONDO:superClassOf"} xref: ONCOTREE:FL {source="MONDO:equivalentTo"} xref: Orphanet:545 {source="MONDO:equivalentTo"} xref: SCTID:308121000 {source="MONDO:equivalentTo"} -xref: UMLS:C0024301 {source="NCIT:C3209", source="Orphanet:545", source="MONDO:equivalentTo", source="ORDO:545/e"} +xref: UMLS:C0024301 {source="NCIT:C3209", source="Orphanet:545", source="MONDO:equivalentTo", source="Orphanet:545/e"} is_a: MONDO:0004949 {source="NCIT:C3209/inferred", source="ONCOTREE:FL"} ! neoplasm of mature B-cells is_a: MONDO:0017594 {source="Orphanet:545"} ! indolent B-cell non-Hodgkin lymphoma property_value: confidence "0.13333333333333353" xsd:double @@ -362304,16 +362142,16 @@ synonym: "tumor of Rathke's pouch" EXACT [NCIT:C2964] xref: DOID:3840 {source="MONDO:equivalentTo"} xref: EFO:1000209 {source="MONDO:equivalentTo"} xref: GARD:0010486 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D44.4 {source="ORDO:54595/e", source="ORDO:54595/specific", source="Orphanet:54595"} +xref: ICD10CM:D44.4 {source="Orphanet:54595/specific", source="Orphanet:54595/e", source="Orphanet:54595"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9350/1 {source="NCIT:C2964"} -xref: MedDRA:10011318 {source="ORDO:54595/e", source="Orphanet:54595"} -xref: MESH:D003397 {source="DOID:3840", source="MONDO:equivalentTo", source="ORDO:54595/e", source="Orphanet:54595"} +xref: MedDRA:10011318 {source="Orphanet:54595/e", source="Orphanet:54595"} +xref: MESH:D003397 {source="DOID:3840", source="Orphanet:54595/e", source="MONDO:equivalentTo", source="Orphanet:54595"} xref: NCIT:C2964 {source="DOID:3840", source="MONDO:equivalentTo", source="EFO:1000209"} xref: Orphanet:54595 {source="MONDO:equivalentTo"} xref: SCTID:189179009 {source="DOID:3840", source="MONDO:equivalentTo"} xref: SCTID:40009002 {source="DOID:3840"} -xref: UMLS:C0010276 {source="DOID:3840", source="MONDO:equivalentTo", source="ORDO:54595/e", source="NCIT:C2964", source="Orphanet:54595"} +xref: UMLS:C0010276 {source="DOID:3840", source="Orphanet:54595/e", source="MONDO:equivalentTo", source="NCIT:C2964", source="Orphanet:54595"} is_a: MONDO:0000628 {source="DOID:3840", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm is_a: MONDO:0002532 {source="NCIT:C2964"} ! squamous cell neoplasm is_a: MONDO:0002720 {source="MONDO:Redundant", source="NCIT:C2964"} ! sella turcica neoplasm @@ -362342,13 +362180,13 @@ synonym: "non-Hodgkins lymphoma" EXACT [MONDO:0005587] xref: DOID:0060060 {source="EFO:0005952", source="MONDO:equivalentTo"} xref: EFO:0005952 {source="MONDO:equivalentTo"} xref: ICDO:9591/3 {source="NCIT:C3211"} -xref: MedDRA:10029547 {source="ORDO:547/e", source="Orphanet:547"} -xref: MESH:D008228 {source="ORDO:547/e", source="Orphanet:547", source="MONDO:equivalentTo"} +xref: MedDRA:10029547 {source="Orphanet:547", source="Orphanet:547/e"} +xref: MESH:D008228 {source="Orphanet:547", source="MONDO:equivalentTo", source="Orphanet:547/e"} xref: NCIT:C3211 {source="EFO:0005952", source="MONDO:equivalentTo"} -xref: OMIM:605027 {source="Orphanet:547", source="MONDO:superClassOf", source="DOID:0060060", source="ORDO:547/btnt"} +xref: OMIM:605027 {source="Orphanet:547/btnt", source="Orphanet:547", source="MONDO:superClassOf", source="DOID:0060060"} xref: ONCOTREE:NHL {source="MONDO:equivalentTo"} xref: Orphanet:547 {source="MONDO:equivalentTo"} -xref: UMLS:C0024305 {source="ORDO:547/e", source="Orphanet:547", source="MONDO:equivalentTo", source="NCIT:C3211"} +xref: UMLS:C0024305 {source="Orphanet:547", source="MONDO:equivalentTo", source="NCIT:C3211", source="Orphanet:547/e"} is_a: MONDO:0005062 {source="DOID:0060060", source="EFO:0005952", source="MESH:D008228", source="NCIT:C3211", source="Orphanet:547"} ! lymphoma [Term] @@ -362370,9 +362208,9 @@ synonym: "nonsyndromic oculocutaneous albinism" EXACT [https://github.com/monarc synonym: "OCA" EXACT ABBREVIATION [Orphanet:55] xref: DOID:0050632 {source="MONDO:equivalentTo"} xref: GARD:0010958 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:55", source="DOID:0050632", source="ORDO:55/inclusion", source="ORDO:55/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:55/ntbt", source="Orphanet:55", source="DOID:0050632", source="Orphanet:55/inclusion"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D016115 {source="ORDO:55/e", source="Orphanet:55", source="MONDO:equivalentTo"} +xref: MESH:D016115 {source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"} xref: NCIT:C84941 {source="MONDO:equivalentTo"} xref: OMIM:203100 {source="DOID:0050632", source="MONDO:superClassOf"} xref: OMIM:203200 {source="DOID:0050632", source="MONDO:superClassOf"} @@ -362384,7 +362222,7 @@ xref: OMIM:615312 {source="DOID:0050632", source="MONDO:superClassOf"} xref: OMIMPS:203100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:55 {source="DOID:0050632", source="MONDO:equivalentTo"} xref: SCTID:63844009 {source="MONDO:equivalentTo"} -xref: UMLS:C0078918 {source="ORDO:55/e", source="NCIT:C84941", source="Orphanet:55", source="MONDO:equivalentTo"} +xref: UMLS:C0078918 {source="NCIT:C84941", source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"} is_a: MONDO:0018134 {source="Orphanet:55"} ! disorder of melanin metabolism is_a: MONDO:0019290 {source="MESH:D016115/inferred", source="Orphanet:55"} ! hypopigmentation of the skin is_a: MONDO:0020275 {source="Orphanet:55"} ! oculocutaneous or ocular albinism @@ -362407,23 +362245,23 @@ xref: DOID:0050524 {source="MONDO:equivalentTo"} xref: GARD:0003697 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: HP:0004904 {source="MONDO:otherHierarchy"} xref: ICD10CM:E11.8 {source="DOID:0050524"} -xref: ICD10CM:E11.9 {source="ORDO:552/attributed", source="ORDO:552/ntbt", source="Orphanet:552"} +xref: ICD10CM:E11.9 {source="Orphanet:552/attributed", source="Orphanet:552/ntbt", source="Orphanet:552"} xref: KEGG:04950 {source="MONDO:relatedTo", source="DOID:0050524"} xref: MESH:C562772 {source="MONDO:equivalentTo"} xref: NCIT:C114769 {source="MONDO:equivalentTo"} -xref: OMIM:125850 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:125851 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:600496 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:606391 {source="ORDO:552/btnt", source="DOID:0050524", source="MONDO:equivalentTo", source="Orphanet:552"} -xref: OMIM:606392 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:606394 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:609812 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:610508 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:612225 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:613370 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:613375 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:616329 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} -xref: OMIM:616511 {source="ORDO:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:125850 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:125851 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:600496 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:606391 {source="DOID:0050524", source="MONDO:equivalentTo", source="Orphanet:552/btnt", source="Orphanet:552"} +xref: OMIM:606392 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:606394 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:609812 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:610508 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:612225 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:613370 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:613375 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:616329 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} +xref: OMIM:616511 {source="Orphanet:552/btnt", source="MONDO:superClassOf", source="Orphanet:552"} xref: Orphanet:552 {source="DOID:0050524", source="MONDO:equivalentTo", source="OMIM:606391"} xref: SCTID:609561005 {source="MONDO:equivalentTo"} xref: UMLS:C0342276 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606391", source="NCIT:C114769", source="Orphanet:552"} @@ -362453,28 +362291,28 @@ xref: DOID:12252 {source="EFO:0003099", source="MONDO:obsolete"} xref: EFO:0003099 {source="MONDO:equivalentTo"} xref: GARD:0006224 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:E24 {source="MONDO:equivalentTo", source="DOID:12252"} -xref: ICD10CM:E24.0 {source="MONDO:superClassOf", source="ORDO:553/btnt", source="Orphanet:553"} -xref: ICD10CM:E24.1 {source="ORDO:553/btnt", source="Orphanet:553"} -xref: ICD10CM:E24.2 {source="ORDO:553/btnt", source="Orphanet:553"} -xref: ICD10CM:E24.3 {source="ORDO:553/btnt", source="Orphanet:553"} -xref: ICD10CM:E24.4 {source="ORDO:553/btnt", source="Orphanet:553"} -xref: ICD10CM:E24.8 {source="ORDO:553/btnt", source="Orphanet:553"} -xref: ICD10CM:E24.9 {source="DOID:12252", source="ORDO:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.0 {source="MONDO:superClassOf", source="Orphanet:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.1 {source="Orphanet:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.2 {source="Orphanet:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.3 {source="Orphanet:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.4 {source="Orphanet:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.8 {source="Orphanet:553/btnt", source="Orphanet:553"} +xref: ICD10CM:E24.9 {source="Orphanet:553/btnt", source="DOID:12252", source="Orphanet:553"} xref: ICD9:255.0 {source="EFO:0003099", source="DOID:12252"} -xref: MedDRA:10011652 {source="ORDO:553/e", source="Orphanet:553"} -xref: MedDRA:10020562 {source="ORDO:553/e", source="Orphanet:553"} -xref: MedDRA:10020564 {source="ORDO:553/e", source="Orphanet:553"} -xref: MedDRA:10020610 {source="ORDO:553/e", source="Orphanet:553"} -xref: MESH:D000308 {source="MONDO:relatedTo", source="ORDO:553/e", source="Orphanet:553"} -xref: MESH:D003480 {source="EFO:0003099", source="MONDO:equivalentTo", source="DOID:12252", source="ORDO:553/e", source="Orphanet:553"} +xref: MedDRA:10011652 {source="Orphanet:553/e", source="Orphanet:553"} +xref: MedDRA:10020562 {source="Orphanet:553/e", source="Orphanet:553"} +xref: MedDRA:10020564 {source="Orphanet:553/e", source="Orphanet:553"} +xref: MedDRA:10020610 {source="Orphanet:553/e", source="Orphanet:553"} +xref: MESH:D000308 {source="MONDO:relatedTo", source="Orphanet:553/e", source="Orphanet:553"} +xref: MESH:D003480 {source="EFO:0003099", source="Orphanet:553/e", source="MONDO:equivalentTo", source="DOID:12252", source="Orphanet:553"} xref: NCIT:C2969 {source="EFO:0003099", source="MONDO:equivalentTo", source="DOID:12252"} xref: OMIM:219090 {source="EFO:0003099", source="MONDO:superClassOf"} xref: Orphanet:553 {source="MONDO:equivalentTo"} xref: SCTID:154705004 {source="DOID:12252"} xref: SCTID:190505004 {source="DOID:12252"} xref: SCTID:47270006 {source="DOID:12252"} -xref: UMLS:C0001622 {source="MONDO:relatedTo", source="ORDO:553/e", source="Orphanet:553"} -xref: UMLS:C0010481 {source="NCIT:C2969", source="MONDO:equivalentTo", source="DOID:12252", source="ORDO:553/e", source="Orphanet:553"} +xref: UMLS:C0001622 {source="MONDO:relatedTo", source="Orphanet:553/e", source="Orphanet:553"} +xref: UMLS:C0010481 {source="NCIT:C2969", source="Orphanet:553/e", source="MONDO:equivalentTo", source="DOID:12252", source="Orphanet:553"} is_a: MONDO:0002254 {source="NCIT:C2969/inferred"} ! syndromic disease is_a: MONDO:0005495 {source="Orphanet:553"} ! adrenal gland disorder relationship: excluded_subClassOf MONDO:0006640 {source="DOID:12252", source="MESH:D003480"} ! adrenal gland hyperfunction @@ -362505,19 +362343,19 @@ def: "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is ch subset: ordo_disease {source="Orphanet:55654"} synonym: "hereditary hypotrichosis simplex" NARROW [Orphanet:55654] xref: GARD:0009170 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L65.8 {source="Orphanet:55654", source="ORDO:55654/attributed", source="ORDO:55654/ntbt"} -xref: MESH:C537160 {source="Orphanet:55654", source="MONDO:equivalentTo", source="ORDO:55654/e"} -xref: OMIM:278150 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} -xref: OMIM:604379 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} -xref: OMIM:605389 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/e"} -xref: OMIM:607903 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} -xref: OMIM:614237 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} -xref: OMIM:614238 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} -xref: OMIM:615059 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} -xref: OMIM:615885 {source="Orphanet:55654", source="MONDO:superClassOf", source="ORDO:55654/btnt"} +xref: ICD10CM:L65.8 {source="Orphanet:55654", source="Orphanet:55654/attributed", source="Orphanet:55654/ntbt"} +xref: MESH:C537160 {source="Orphanet:55654", source="MONDO:equivalentTo", source="Orphanet:55654/e"} +xref: OMIM:278150 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} +xref: OMIM:604379 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} +xref: OMIM:605389 {source="Orphanet:55654", source="Orphanet:55654/e", source="MONDO:superClassOf"} +xref: OMIM:607903 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} +xref: OMIM:614237 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} +xref: OMIM:614238 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} +xref: OMIM:615059 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} +xref: OMIM:615885 {source="Orphanet:55654", source="Orphanet:55654/btnt", source="MONDO:superClassOf"} xref: Orphanet:55654 {source="MONDO:equivalentTo"} xref: SCTID:723362004 {source="MONDO:equivalentTo"} -xref: UMLS:C1854310 {source="Orphanet:55654", source="MONDO:equivalentTo", source="ORDO:55654/e"} +xref: UMLS:C1854310 {source="Orphanet:55654", source="MONDO:equivalentTo", source="Orphanet:55654/e"} is_a: MONDO:0004907 {source="Orphanet:55654"} ! alopecia property_value: confidence "0.1864800188354636" xsd:double @@ -362533,14 +362371,14 @@ name: isolated anorectal malformation def: "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." [Orphanet:557] subset: ordo_morphological_anomaly {source="Orphanet:557"} synonym: "nonsyndromic anorectal malformation" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q42.0 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"} -xref: ICD10CM:Q42.1 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"} -xref: ICD10CM:Q42.2 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"} -xref: ICD10CM:Q42.3 {source="ORDO:557/e", source="Orphanet:557", source="ORDO:557/specific"} -xref: MESH:C537771 {source="MONDO:subClassOf", source="ORDO:557/e", source="Orphanet:557"} -xref: OMIM:107100 {source="ORDO:557/e", source="Orphanet:557", source="MONDO:superClassOf"} -xref: OMIM:207500 {source="Orphanet:557", source="MONDO:superClassOf", source="ORDO:557/btnt"} -xref: OMIM:301800 {source="Orphanet:557", source="MONDO:superClassOf", source="ORDO:557/btnt"} +xref: ICD10CM:Q42.0 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} +xref: ICD10CM:Q42.1 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} +xref: ICD10CM:Q42.2 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} +xref: ICD10CM:Q42.3 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} +xref: MESH:C537771 {source="MONDO:subClassOf", source="Orphanet:557", source="Orphanet:557/e"} +xref: OMIM:107100 {source="Orphanet:557", source="MONDO:superClassOf", source="Orphanet:557/e"} +xref: OMIM:207500 {source="Orphanet:557", source="Orphanet:557/btnt", source="MONDO:superClassOf"} +xref: OMIM:301800 {source="Orphanet:557", source="Orphanet:557/btnt", source="MONDO:superClassOf"} xref: Orphanet:557 {source="MONDO:equivalentTo"} xref: UMLS:C3495676 {source="Orphanet:557", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019938 {source="MONDO:Redundant", source="Orphanet:557"} ! anorectal malformation @@ -362560,10 +362398,10 @@ def: "Carcinoma of the gallbladder (GBC) is the most common and aggressive form subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:56044"} synonym: "carcinoma of gallbladder and EBT" EXACT [Orphanet:56044] -xref: MedDRA:10007426 {source="ORDO:56044/e", source="Orphanet:56044"} +xref: MedDRA:10007426 {source="Orphanet:56044/e", source="Orphanet:56044"} xref: Orphanet:56044 {source="MONDO:equivalentTo"} xref: UMLS:C0153452 {source="MONDO:relatedTo", source="Orphanet:56044"} -xref: UMLS:C0235782 {source="MONDO:relatedTo", source="ORDO:56044/e", source="Orphanet:56044"} +xref: UMLS:C0235782 {source="Orphanet:56044/e", source="MONDO:relatedTo", source="Orphanet:56044"} xref: UMLS:CN205299 {source="MONDO:equivalentTo"} is_a: MONDO:0002514 {source="MONDO:0017631-obsoleted"} ! hepatobiliary neoplasm is_a: MONDO:0021385 {source="MONDO:0017631-obsoleted"} ! extrahepatic bile duct neoplasm @@ -362583,16 +362421,16 @@ synonym: "POFD" RELATED ABBREVIATION [GARD:0006995] synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800] xref: DOID:1858 {source="MONDO:equivalentTo"} xref: GARD:0006995 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q78.1 {source="ORDO:562/inclusion", source="ORDO:562/ntbt", source="MONDO:relatedTo", source="Orphanet:562"} +xref: ICD10CM:Q78.1 {source="MONDO:relatedTo", source="Orphanet:562/ntbt", source="Orphanet:562/inclusion", source="Orphanet:562"} xref: MESH:D005357 {source="MONDO:subClassOf", source="DOID:1858"} -xref: MESH:D005359 {source="MONDO:relatedTo", source="ORDO:562/e", source="Orphanet:562"} +xref: MESH:D005359 {source="Orphanet:562/e", source="MONDO:relatedTo", source="Orphanet:562"} xref: NCIT:C48627 {source="MONDO:cjm", source="MONDO:equivalentTo"} -xref: OMIM:174800 {source="MONDO:equivalentTo", source="ORDO:562/e", source="DOID:1858", source="Orphanet:562"} +xref: OMIM:174800 {source="Orphanet:562/e", source="MONDO:equivalentTo", source="DOID:1858", source="Orphanet:562"} xref: Orphanet:562 {source="MONDO:equivalentTo"} xref: SCTID:726029005 {source="MONDO:equivalentTo"} xref: UMLS:C0016063 {source="MONDO:notFoundInDiseaseSubset", source="DOID:1858"} -xref: UMLS:C0016065 {source="OMIM:174800", source="ORDO:93276/e", source="Orphanet:93276", source="MONDO:equivalentTo", source="NCIT:C34610", source="DOID:1858"} -xref: UMLS:C0242292 {source="OMIM:174800", source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:562/e", source="NCIT:C48627", source="Orphanet:562"} +xref: UMLS:C0016065 {source="OMIM:174800", source="Orphanet:93276", source="MONDO:equivalentTo", source="Orphanet:93276/e", source="NCIT:C34610", source="DOID:1858"} +xref: UMLS:C0242292 {source="OMIM:174800", source="Orphanet:562/e", source="MONDO:relatedTo", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C48627", source="Orphanet:562"} is_a: MONDO:0003847 {source="OMIM:174800"} ! Mendelian disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4392 {source="mim2gene_medgen"} ! GNAS relationship: disease_has_feature MONDO:0015791 {source="Orphanet:562"} ! peripheral precocious puberty @@ -362617,15 +362455,15 @@ synonym: "postpartum peripartum cardiomyopathy" EXACT [DOID:9997] xref: DOID:9997 {source="MONDO:equivalentTo", source="EFO:0002628"} xref: EFO:0002628 {source="MONDO:equivalentTo"} xref: GARD:0000220 {source="MONDO:equivalentTo"} -xref: ICD10CM:O90.3 {source="DOID:9997", source="MONDO:equivalentTo", source="ORDO:563/e", source="Orphanet:563"} +xref: ICD10CM:O90.3 {source="DOID:9997", source="Orphanet:563/e", source="MONDO:equivalentTo", source="Orphanet:563"} xref: ICD9:674.5 {source="DOID:9997", source="EFO:0002628"} xref: ICD9:674.54 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10049430 {source="ORDO:563/e", source="Orphanet:563"} +xref: MedDRA:10049430 {source="Orphanet:563/e", source="Orphanet:563"} xref: Orphanet:563 {source="GARD:0000220", source="MONDO:equivalentTo"} xref: SCTID:16253001 {source="DOID:9997"} xref: SCTID:62377009 {source="MONDO:equivalentTo", source="EFO:0002628"} -xref: UMLS:C0269972 {source="MONDO:equivalentTo", source="ORDO:563/e", source="Orphanet:563"} -xref: UMLS:C0877208 {source="DOID:9997", source="GARD:0000220", source="MONDO:notFoundInDiseaseSubset", source="ORDO:563/e", source="Orphanet:563"} +xref: UMLS:C0269972 {source="Orphanet:563/e", source="MONDO:equivalentTo", source="Orphanet:563"} +xref: UMLS:C0877208 {source="DOID:9997", source="GARD:0000220", source="Orphanet:563/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:563"} is_a: MONDO:0005021 {source="DOID:9997", source="EFO:0002628", source="MONDO:Redundant", source="Orphanet:563/inferred"} ! dilated cardiomyopathy is_a: MONDO:0016338 {source="Orphanet:563"} ! non-familial dilated cardiomyopathy is_a: MONDO:0024575 {source="Orphanet:563"} ! pregnancy disorder @@ -362639,22 +362477,22 @@ subset: ordo_malformation_syndrome {source="Orphanet:564"} synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, Orphanet:564] xref: DOID:0050778 {source="MONDO:equivalentTo"} xref: GARD:0003436 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q61.9 {source="ORDO:564/inclusion", source="ORDO:564/ntbt", source="Orphanet:564"} +xref: ICD10CM:Q61.9 {source="Orphanet:564/ntbt", source="Orphanet:564/inclusion", source="Orphanet:564"} xref: ICD9:753.1 {source="DOID:0050778"} xref: ICD9:753.10 {source="DOID:0050778"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C98978 {source="MONDO:equivalentTo"} -xref: OMIM:249000 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/e", source="Orphanet:564"} +xref: OMIM:249000 {source="Orphanet:564/e", source="MONDO:superClassOf", source="DOID:0050778", source="Orphanet:564"} xref: OMIM:267010 {source="MONDO:superClassOf", source="DOID:0050778"} -xref: OMIM:603194 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:607361 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:611134 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:611561 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:612284 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:613885 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:614175 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:614209 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} -xref: OMIM:615397 {source="MONDO:superClassOf", source="DOID:0050778", source="ORDO:564/btnt", source="Orphanet:564"} +xref: OMIM:603194 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:607361 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:611134 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:611561 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:612284 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:613885 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:614175 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:614209 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} +xref: OMIM:615397 {source="MONDO:superClassOf", source="Orphanet:564/btnt", source="DOID:0050778", source="Orphanet:564"} xref: OMIMPS:249000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:564 {source="MONDO:equivalentTo", source="DOID:0050778"} xref: SCTID:204954005 {source="DOID:0050778"} @@ -362662,7 +362500,7 @@ xref: SCTID:204966004 {source="DOID:0050778"} xref: SCTID:236440007 {source="DOID:0050778"} xref: SCTID:29076005 {source="MONDO:equivalentTo"} xref: SCTID:82525005 {source="DOID:0050778"} -xref: UMLS:C0265215 {source="NCIT:C98978", source="MONDO:equivalentTo", source="ORDO:564/e", source="Orphanet:564"} +xref: UMLS:C0265215 {source="NCIT:C98978", source="Orphanet:564/e", source="MONDO:equivalentTo", source="Orphanet:564"} xref: UMLS:C0311245 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050778"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98978", source="indirect"} ! syndromic disease is_a: MONDO:0005308 {source="DOID:0050778", source="Wikipedia:Ciliopathy"} ! ciliopathy @@ -362691,7 +362529,7 @@ synonym: "cold agglutinin syndrome" EXACT [Orphanet:56425] synonym: "cold antibody disease" RELATED [GARD:0006130] synonym: "cold antibody hemolytic anemia" RELATED [GARD:0006130] xref: GARD:0006130 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D59.1 {source="Orphanet:56425", source="ORDO:56425/ntbt"} +xref: ICD10CM:D59.1 {source="Orphanet:56425/ntbt", source="Orphanet:56425"} xref: Orphanet:56425 {source="MONDO:equivalentTo"} xref: SCTID:127055007 {source="MONDO:equivalentTo"} xref: UMLS:C0175816 {source="Orphanet:56425", source="MONDO:notFoundInDiseaseSubset"} @@ -362718,19 +362556,19 @@ synonym: "Takao syndrome" EXACT [Orphanet:567] synonym: "VCFS" RELATED ABBREVIATION [GARD:0010299] synonym: "velocardiofacial syndrome" RELATED [Orphanet:567] xref: GARD:0010299 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D82.1 {source="Orphanet:567", source="ORDO:567/specific", source="ORDO:567/e"} -xref: MedDRA:10012979 {source="Orphanet:567", source="ORDO:567/e"} -xref: MedDRA:10066430 {source="Orphanet:567", source="ORDO:567/e"} -xref: MESH:D058165 {source="Orphanet:567", source="ORDO:567/e"} -xref: OMIM:188400 {source="Orphanet:567", source="MONDO:superClassOf", source="ORDO:567/btnt"} -xref: OMIM:192430 {source="Orphanet:567", source="MONDO:superClassOf", source="ORDO:567/btnt"} +xref: ICD10CM:D82.1 {source="Orphanet:567", source="Orphanet:567/e", source="Orphanet:567/specific"} +xref: MedDRA:10012979 {source="Orphanet:567", source="Orphanet:567/e"} +xref: MedDRA:10066430 {source="Orphanet:567", source="Orphanet:567/e"} +xref: MESH:D058165 {source="Orphanet:567", source="Orphanet:567/e"} +xref: OMIM:188400 {source="Orphanet:567/btnt", source="Orphanet:567", source="MONDO:superClassOf"} +xref: OMIM:192430 {source="Orphanet:567/btnt", source="Orphanet:567", source="MONDO:superClassOf"} xref: Orphanet:567 {source="MONDO:equivalentTo"} -xref: UMLS:C0012236 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="ORDO:567/e"} -xref: UMLS:C0220704 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="ORDO:567/e"} +xref: UMLS:C0012236 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:567/e"} +xref: UMLS:C0220704 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:567/e"} xref: UMLS:C0431406 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0795907 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="ORDO:567/e"} -xref: UMLS:C2936346 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="ORDO:567/e"} -xref: UMLS:C3266101 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="ORDO:567/e"} +xref: UMLS:C0795907 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:567/e"} +xref: UMLS:C2936346 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:567/e"} +xref: UMLS:C3266101 {source="Orphanet:567", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:567/e"} is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015160 {source="Orphanet:567", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -362763,11 +362601,11 @@ synonym: "microphthalmia or anophthalmos with associated anomalies (formerly)" R synonym: "microphthalmia syndromic 1" RELATED [GARD:0000087] synonym: "syndromic microphthalmia type 1" RELATED [GARD:0000087] xref: GARD:0000087 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="Orphanet:568", source="ORDO:568/attributed", source="ORDO:568/ntbt"} -xref: OMIM:300166 {source="MONDO:subClassOf", source="Orphanet:568", source="ORDO:568/ntbt", source="MONDO:directSiblingOf"} -xref: OMIM:309800 {source="GARD:0000087", source="Orphanet:568", source="MONDO:superClassOf", source="ORDO:568/btnt"} +xref: ICD10CM:Q11.2 {source="Orphanet:568", source="Orphanet:568/attributed", source="Orphanet:568/ntbt"} +xref: OMIM:300166 {source="MONDO:subClassOf", source="Orphanet:568", source="Orphanet:568/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:309800 {source="GARD:0000087", source="Orphanet:568", source="Orphanet:568/btnt", source="MONDO:superClassOf"} xref: Orphanet:568 {source="GARD:0000087", source="MONDO:equivalentTo"} -xref: UMLS:C0796016 {source="GARD:0000087", source="ORDO:568/e", source="Orphanet:568", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0796016 {source="GARD:0000087", source="Orphanet:568", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:568/e"} is_a: MONDO:0015160 {source="Orphanet:568", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016073 {source="Orphanet:568"} ! syndromic microphthalmia is_a: MONDO:0020119 {source="Orphanet:568"} ! X-linked syndromic intellectual disability @@ -362786,12 +362624,12 @@ subset: ordo_disease {source="Orphanet:569"} synonym: "familial or sporadic hemiplegic migraine" EXACT CLINGEN_PREFERRED [] synonym: "hemiplegic migraine" EXACT [MONDO:0023310] xref: GARD:0010768 {source="MONDO:equivalentTo"} -xref: ICD10CM:G43.1 {source="Orphanet:569", source="ORDO:569/inclusion", source="ORDO:569/ntbt"} +xref: ICD10CM:G43.1 {source="Orphanet:569/inclusion", source="Orphanet:569/ntbt", source="Orphanet:569"} xref: ICD9:346.30 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:141500 {source="MONDO:relatedTo", source="Orphanet:569", source="MONDO:superClassOf", source="GARD:0010768", source="ORDO:569/btnt"} -xref: OMIM:602481 {source="MONDO:relatedTo", source="Orphanet:569", source="MONDO:superClassOf", source="GARD:0010768", source="ORDO:569/btnt"} -xref: OMIM:607516 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:569", source="ORDO:569/ntbt"} -xref: OMIM:609634 {source="MONDO:relatedTo", source="Orphanet:569", source="MONDO:superClassOf", source="GARD:0010768", source="ORDO:569/btnt"} +xref: OMIM:141500 {source="Orphanet:569/btnt", source="MONDO:relatedTo", source="Orphanet:569", source="MONDO:superClassOf", source="GARD:0010768"} +xref: OMIM:602481 {source="Orphanet:569/btnt", source="MONDO:relatedTo", source="Orphanet:569", source="MONDO:superClassOf", source="GARD:0010768"} +xref: OMIM:607516 {source="MONDO:subClassOf", source="Orphanet:569/ntbt", source="MONDO:relatedTo", source="Orphanet:569"} +xref: OMIM:609634 {source="Orphanet:569/btnt", source="MONDO:relatedTo", source="Orphanet:569", source="MONDO:superClassOf", source="GARD:0010768"} xref: Orphanet:569 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="GARD:0010768"} xref: SCTID:59292006 {source="MONDO:equivalentTo"} is_a: MONDO:0005475 {source="linkedlifedata"} ! migraine with aura @@ -362809,10 +362647,10 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:56970"} synonym: "transmissible spongiform encephalopathy" EXACT [Orphanet:56970] synonym: "TSE" EXACT ABBREVIATION [Orphanet:56970] -xref: ICD10CM:A81.0 {source="ORDO:56970/btnt", source="Orphanet:56970"} -xref: ICD10CM:A81.1 {source="ORDO:56970/btnt", source="MONDO:relatedTo", source="Orphanet:56970"} -xref: ICD10CM:A81.8 {source="ORDO:56970/btnt", source="Orphanet:56970"} -xref: ICD10CM:A81.9 {source="ORDO:56970/btnt", source="Orphanet:56970"} +xref: ICD10CM:A81.0 {source="Orphanet:56970/btnt", source="Orphanet:56970"} +xref: ICD10CM:A81.1 {source="MONDO:relatedTo", source="Orphanet:56970/btnt", source="Orphanet:56970"} +xref: ICD10CM:A81.8 {source="Orphanet:56970/btnt", source="Orphanet:56970"} +xref: ICD10CM:A81.9 {source="Orphanet:56970/btnt", source="Orphanet:56970"} xref: Orphanet:56970 {source="MONDO:equivalentTo"} xref: UMLS:C0162534 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:56970"} is_a: MONDO:0005550 {source="https://github.com/monarch-initiative/mondo/issues/1404", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-2825-0621"} ! infectious disease @@ -362827,13 +362665,13 @@ synonym: "short-lasting unilateral neuralgiform headache attacks with conjunctiv synonym: "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" EXACT [GARD:0009257] synonym: "SUNCT headache" EXACT [GARD:0009257] xref: GARD:0009257 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G44.8 {source="ORDO:57145/ntbt", source="Orphanet:57145"} -xref: MedDRA:10061981 {source="ORDO:57145/e", source="Orphanet:57145"} -xref: MESH:D050798 {source="MONDO:equivalentTo", source="ORDO:57145/e", source="Orphanet:57145"} +xref: ICD10CM:G44.8 {source="Orphanet:57145/ntbt", source="Orphanet:57145"} +xref: MedDRA:10061981 {source="Orphanet:57145/e", source="Orphanet:57145"} +xref: MESH:D050798 {source="Orphanet:57145/e", source="MONDO:equivalentTo", source="Orphanet:57145"} xref: NCIT:C85174 {source="MONDO:equivalentTo"} xref: Orphanet:57145 {source="MONDO:equivalentTo"} xref: SCTID:725058003 {source="MONDO:equivalentTo"} -xref: UMLS:C1262087 {source="MONDO:equivalentTo", source="NCIT:C85174", source="ORDO:57145/e", source="Orphanet:57145"} +xref: UMLS:C1262087 {source="Orphanet:57145/e", source="MONDO:equivalentTo", source="NCIT:C85174", source="Orphanet:57145"} is_a: MONDO:0002254 {source="NCIT:C85174"} ! syndromic disease is_a: MONDO:0015530 {source="MESH:D050798", source="Orphanet:57145"} ! trigeminal autonomic cephalalgia @@ -362859,7 +362697,7 @@ synonym: "condensing osteitis of the clavicle" EXACT [GARD:0010910] synonym: "condensing osteitis of the medial clavicle" EXACT [GARD:0010910] synonym: "osteitis condensans of the clavicle" EXACT [Orphanet:57196] xref: GARD:0010910 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M85.3 {source="ORDO:57196/ntbt", source="Orphanet:57196"} +xref: ICD10CM:M85.3 {source="Orphanet:57196", source="Orphanet:57196/ntbt"} xref: Orphanet:57196 {source="MONDO:equivalentTo"} xref: UMLS:CN230280 {source="MONDO:equivalentTo"} is_a: MONDO:0018381 {source="Orphanet:57196"} ! osteochondrosis @@ -362880,11 +362718,11 @@ synonym: "monosomy type 21" EXACT [MONDORULE:2, Orphanet:574] synonym: "partial 21q monosomy" EXACT [Orphanet:574] synonym: "partial monosomy 21q" RELATED [GARD:0010860] xref: GARD:0010860 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q93.0 {source="ORDO:574/attributed", source="ORDO:574/ntbt", source="Orphanet:574"} +xref: ICD10CM:Q93.0 {source="Orphanet:574/attributed", source="Orphanet:574/ntbt", source="Orphanet:574"} xref: MESH:C537108 {source="MONDO:equivalentTo"} xref: NCIT:C36469 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="exact-label-match"} xref: Orphanet:574 {source="MONDO:equivalentTo"} -xref: UMLS:C0795875 {source="MONDO:equivalentTo", source="ORDO:574/e", source="Orphanet:574"} +xref: UMLS:C0795875 {source="Orphanet:574/e", source="MONDO:equivalentTo", source="Orphanet:574"} is_a: MONDO:0019040 ! chromosomal disorder relationship: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human) relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:574"} ! obsolete chromosomal anomaly with cataract @@ -362915,9 +362753,9 @@ synonym: "mucolipidosis type III alpha/beta" RELATED [Orphanet:423461] synonym: "pseudo-Hurler polydystrophy" EXACT [GARD:0003806, OMIM:252600, Orphanet:577] xref: DOID:0080071 {source="MONDO:equivalentTo"} xref: GARD:0003806 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.0 {source="Orphanet:577", source="ORDO:423461/attributed", source="ORDO:423461/ntbt", source="ORDO:577/inclusion", source="ORDO:577/ntbt", source="Orphanet:423461"} -xref: OMIM:252600 {source="Orphanet:577", source="MONDO:equivalentTo", source="DOID:0080071", source="ORDO:577/btnt", source="GARD:0003806", source="Orphanet:423461"} -xref: OMIM:252605 {source="Orphanet:577", source="MONDO:superClassOf", source="DOID:0080071", source="ORDO:577/btnt"} +xref: ICD10CM:E77.0 {source="Orphanet:577", source="Orphanet:577/ntbt", source="Orphanet:423461/attributed", source="Orphanet:423461/ntbt", source="Orphanet:423461", source="Orphanet:577/inclusion"} +xref: OMIM:252600 {source="Orphanet:577", source="Orphanet:577/btnt", source="MONDO:equivalentTo", source="DOID:0080071", source="GARD:0003806", source="Orphanet:423461"} +xref: OMIM:252605 {source="Orphanet:577", source="Orphanet:577/btnt", source="MONDO:superClassOf", source="DOID:0080071"} xref: Orphanet:423461 {source="MONDO:equivalentTo", source="OMIM:252600"} xref: Orphanet:577 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="GARD:0003806", source="OMIM:252600"} xref: SCTID:65764006 {source="MONDO:equivalentTo"} @@ -362936,7 +362774,7 @@ id: MONDO:0018932 name: cirrhotic cardiomyopathy def: "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." [Orphanet:57777] subset: ordo_disease {source="Orphanet:57777"} -xref: ICD10CM:I42.8 {source="Orphanet:57777", source="ORDO:57777/ntbt"} +xref: ICD10CM:I42.8 {source="Orphanet:57777", source="Orphanet:57777/ntbt"} xref: Orphanet:57777 {source="MONDO:equivalentTo"} xref: SCTID:725416005 {source="MONDO:equivalentTo"} xref: UMLS:C4511053 {source="MONDO:equivalentTo"} @@ -362950,7 +362788,7 @@ name: Mazabraud syndrome def: "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." [Orphanet:57782] subset: ordo_malformation_syndrome {source="Orphanet:57782"} synonym: "Myxoma with fibrous dysplasia" EXACT [Orphanet:57782] -xref: ICD10CM:M85.0 {source="ORDO:57782/attributed", source="ORDO:57782/ntbt", source="Orphanet:57782"} +xref: ICD10CM:M85.0 {source="Orphanet:57782", source="Orphanet:57782/attributed", source="Orphanet:57782/ntbt"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:57782 {source="MONDO:equivalentTo"} @@ -362980,13 +362818,13 @@ synonym: "leukemic reticuloendotheliosis" EXACT [NCIT:C7402, Orphanet:58017] xref: DOID:285 {source="MONDO:equivalentTo", source="EFO:1000956"} xref: EFO:1000956 {source="MONDO:equivalentTo"} xref: GARD:0006560 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C91.4 {source="DOID:285", source="ORDO:58017/ntbt", source="Orphanet:58017", source="EFO:1000956"} +xref: ICD10CM:C91.4 {source="Orphanet:58017/ntbt", source="DOID:285", source="Orphanet:58017", source="EFO:1000956"} xref: ICD10CM:C91.40 {source="DOID:285"} xref: ICD9:202.4 {source="DOID:285"} xref: ICDO:9940/3 {source="NCIT:C7402"} -xref: MedDRA:10019053 {source="ORDO:58017/e", source="Orphanet:58017"} +xref: MedDRA:10019053 {source="Orphanet:58017/e", source="Orphanet:58017"} xref: MedDRA:10019055 {source="EFO:1000956"} -xref: MESH:D007943 {source="MONDO:equivalentTo", source="DOID:285", source="ORDO:58017/e", source="Orphanet:58017", source="EFO:1000956"} +xref: MESH:D007943 {source="Orphanet:58017/e", source="MONDO:equivalentTo", source="DOID:285", source="Orphanet:58017", source="EFO:1000956"} xref: NCIT:C7402 {source="MONDO:equivalentTo", source="DOID:285", source="EFO:1000956"} xref: ONCOTREE:HCL {source="MONDO:equivalentTo"} xref: Orphanet:58017 {source="MONDO:equivalentTo"} @@ -362996,7 +362834,7 @@ xref: SCTID:188653005 {source="DOID:285"} xref: SCTID:190066005 {source="DOID:285"} xref: SCTID:54087003 {source="DOID:285", source="EFO:1000956"} xref: SCTID:85228003 {source="DOID:285"} -xref: UMLS:C0023443 {source="MONDO:equivalentTo", source="NCIT:C7402", source="DOID:285", source="ORDO:58017/e", source="Orphanet:58017"} +xref: UMLS:C0023443 {source="Orphanet:58017/e", source="MONDO:equivalentTo", source="NCIT:C7402", source="DOID:285", source="Orphanet:58017"} is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7402", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0004948 {source="DOID:285", source="EFO:1000956"} ! B-cell chronic lymphocytic leukemia is_a: MONDO:0004949 {source="EFO:1000956/inferred", source="MONDO:Redundant", source="NCIT:C7402", source="ONCOTREE:HCL", source="indirect"} ! neoplasm of mature B-cells @@ -363016,20 +362854,20 @@ synonym: "osteoblastoma, benign" EXACT [NCIT:C3294] xref: DOID:0060098 {source="MONDO:equivalentTo"} xref: EFO:1000410 {source="MONDO:equivalentTo"} xref: HP:0011846 {source="MONDO:otherHierarchy"} -xref: ICD10CM:D16.0 {source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.1 {source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.3 {source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.4 {source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.5 {source="MONDO:relatedTo", source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.6 {source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.7 {source="Orphanet:58040", source="ORDO:58040/btnt"} -xref: ICD10CM:D16.8 {source="Orphanet:58040", source="ORDO:58040/btnt"} +xref: ICD10CM:D16.0 {source="Orphanet:58040/btnt", source="Orphanet:58040"} +xref: ICD10CM:D16.1 {source="Orphanet:58040/btnt", source="Orphanet:58040"} +xref: ICD10CM:D16.3 {source="Orphanet:58040/btnt", source="Orphanet:58040"} +xref: ICD10CM:D16.4 {source="Orphanet:58040/btnt", source="Orphanet:58040"} +xref: ICD10CM:D16.5 {source="Orphanet:58040/btnt", source="MONDO:relatedTo", source="Orphanet:58040"} +xref: ICD10CM:D16.6 {source="Orphanet:58040/btnt", source="Orphanet:58040"} +xref: ICD10CM:D16.7 {source="Orphanet:58040/btnt", source="Orphanet:58040"} +xref: ICD10CM:D16.8 {source="Orphanet:58040/btnt", source="Orphanet:58040"} xref: ICDO:9200/0 {source="NCIT:C3294"} -xref: MedDRA:10004430 {source="ORDO:58040/e", source="Orphanet:58040"} -xref: MESH:D018215 {source="ORDO:58040/e", source="Orphanet:58040", source="MONDO:equivalentTo"} +xref: MedDRA:10004430 {source="Orphanet:58040", source="Orphanet:58040/e"} +xref: MESH:D018215 {source="Orphanet:58040", source="MONDO:equivalentTo", source="Orphanet:58040/e"} xref: NCIT:C3294 {source="MONDO:equivalentTo"} xref: Orphanet:58040 {source="MONDO:equivalentTo"} -xref: UMLS:C0029417 {source="NCIT:C3294", source="ORDO:58040/e", source="Orphanet:58040", source="MONDO:equivalentTo"} +xref: UMLS:C0029417 {source="NCIT:C3294", source="Orphanet:58040", source="MONDO:equivalentTo", source="Orphanet:58040/e"} is_a: MONDO:0000631 {source="DOID:0060098", source="NCIT:C3294"} ! bone benign neoplasm is_a: MONDO:0019060 {source="NCIT:C3294/inferred", source="Orphanet:58040", source="indirect"} ! bone neoplasm property_value: IAO:0000589 "osteoblastoma (disease)" xsd:string @@ -363063,17 +362901,17 @@ synonym: "Sanfilippo syndrome B" NARROW [DOID:12801] synonym: "Sanfilippo's syndrome" EXACT [DOID:12801] xref: DOID:12801 {source="MONDO:equivalentTo"} xref: GARD:0003807 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E76.2 {source="ORDO:581/ntbt", source="Orphanet:581", source="ORDO:581/inclusion"} +xref: ICD10CM:E76.2 {source="Orphanet:581/inclusion", source="Orphanet:581/ntbt", source="Orphanet:581"} xref: ICD10CM:E76.22 {source="DOID:12801"} -xref: MedDRA:10056890 {source="ORDO:581/e", source="Orphanet:581"} -xref: MESH:D009084 {source="DOID:12801", source="ORDO:581/e", source="Orphanet:581"} +xref: MedDRA:10056890 {source="Orphanet:581/e", source="Orphanet:581"} +xref: MESH:D009084 {source="Orphanet:581/e", source="DOID:12801", source="Orphanet:581"} xref: NCIT:C61262 {source="DOID:12801", source="MONDO:equivalentTo"} xref: NCIT:C84897 {source="DOID:12801", source="MONDO:superClassOf"} xref: NCIT:C84898 {source="DOID:12801", source="MONDO:superClassOf"} -xref: OMIM:252900 {source="DOID:12801", source="ORDO:581/btnt", source="MONDO:superClassOf", source="Orphanet:581"} -xref: OMIM:252920 {source="DOID:12801", source="ORDO:581/btnt", source="MONDO:superClassOf", source="Orphanet:581"} -xref: OMIM:252930 {source="DOID:12801", source="ORDO:581/btnt", source="MONDO:superClassOf", source="Orphanet:581"} -xref: OMIM:252940 {source="DOID:12801", source="ORDO:581/btnt", source="MONDO:superClassOf", source="Orphanet:581"} +xref: OMIM:252900 {source="DOID:12801", source="MONDO:superClassOf", source="Orphanet:581/btnt", source="Orphanet:581"} +xref: OMIM:252920 {source="DOID:12801", source="MONDO:superClassOf", source="Orphanet:581/btnt", source="Orphanet:581"} +xref: OMIM:252930 {source="DOID:12801", source="MONDO:superClassOf", source="Orphanet:581/btnt", source="Orphanet:581"} +xref: OMIM:252940 {source="DOID:12801", source="MONDO:superClassOf", source="Orphanet:581/btnt", source="Orphanet:581"} xref: Orphanet:581 {source="DOID:12801", source="MONDO:equivalentTo"} xref: SCTID:190936000 {source="DOID:12801"} xref: SCTID:254070003 {source="DOID:12801"} @@ -363081,9 +362919,9 @@ xref: SCTID:254071004 {source="DOID:12801"} xref: SCTID:41572006 {source="DOID:12801", source="MONDO:superClassOf"} xref: SCTID:59990008 {source="DOID:12801"} xref: SCTID:88393000 {source="DOID:12801", source="MONDO:equivalentTo"} -xref: UMLS:C0026706 {source="DOID:12801", source="MONDO:equivalentTo", source="ORDO:581/e", source="NCIT:C61262", source="Orphanet:581"} +xref: UMLS:C0026706 {source="Orphanet:581/e", source="DOID:12801", source="MONDO:equivalentTo", source="NCIT:C61262", source="Orphanet:581"} xref: UMLS:C0086647 {source="DOID:12801", source="MONDO:superClassOf"} -xref: UMLS:C0086648 {source="DOID:12801", source="ORDO:581/e", source="MONDO:superClassOf", source="Orphanet:581"} +xref: UMLS:C0086648 {source="Orphanet:581/e", source="DOID:12801", source="MONDO:superClassOf", source="Orphanet:581"} xref: UMLS:CN205330 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C61262"} ! syndromic disease is_a: MONDO:0005381 ! bone disorder @@ -363119,16 +362957,16 @@ synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [DOID:12804] synonym: "Osteochondrodystrophy" NARROW [DOID:12804] xref: DOID:12804 {source="MONDO:equivalentTo"} xref: GARD:0012562 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E76.2 {source="ORDO:582/ntbt", source="Orphanet:582", source="ORDO:582/inclusion"} +xref: ICD10CM:E76.2 {source="Orphanet:582/inclusion", source="Orphanet:582", source="Orphanet:582/ntbt"} xref: ICD10CM:E76.210 {source="DOID:12804"} xref: ICD10CM:E76.219 {source="DOID:12804"} -xref: MedDRA:10028095 {source="ORDO:582/e", source="Orphanet:582"} -xref: MESH:D009085 {source="DOID:12804", source="ORDO:582/e", source="Orphanet:582"} +xref: MedDRA:10028095 {source="Orphanet:582/e", source="Orphanet:582"} +xref: MESH:D009085 {source="Orphanet:582/e", source="DOID:12804", source="Orphanet:582"} xref: NCIT:C61263 {source="MONDO:equivalentTo", source="DOID:12804"} xref: NCIT:C84901 {source="DOID:12804", source="MONDO:superClassOf"} -xref: OMIM:252300 {source="ORDO:582/btnt", source="MONDO:superClassOf", source="Orphanet:582"} -xref: OMIM:253000 {source="ORDO:582/btnt", source="DOID:12804", source="MONDO:superClassOf", source="Orphanet:582"} -xref: OMIM:253010 {source="ORDO:582/btnt", source="DOID:12804", source="MONDO:superClassOf", source="Orphanet:582"} +xref: OMIM:252300 {source="MONDO:superClassOf", source="Orphanet:582", source="Orphanet:582/btnt"} +xref: OMIM:253000 {source="DOID:12804", source="MONDO:superClassOf", source="Orphanet:582", source="Orphanet:582/btnt"} +xref: OMIM:253010 {source="DOID:12804", source="MONDO:superClassOf", source="Orphanet:582", source="Orphanet:582/btnt"} xref: Orphanet:582 {source="MONDO:equivalentTo"} xref: SCTID:124449003 {source="DOID:12804"} xref: SCTID:130197005 {source="DOID:12804"} @@ -363137,7 +362975,7 @@ xref: SCTID:254074007 {source="DOID:12804"} xref: SCTID:378007 {source="MONDO:equivalentTo", source="DOID:12804"} xref: SCTID:7259005 {source="DOID:12804", source="MONDO:superClassOf"} xref: SCTID:78856008 {source="DOID:12804"} -xref: UMLS:C0026707 {source="MONDO:equivalentTo", source="DOID:12804", source="ORDO:582/e", source="Orphanet:582", source="NCIT:C61263"} +xref: UMLS:C0026707 {source="Orphanet:582/e", source="MONDO:equivalentTo", source="DOID:12804", source="Orphanet:582", source="NCIT:C61263"} is_a: MONDO:0002254 {source="NCIT:C61263"} ! syndromic disease is_a: MONDO:0002561 {source="DOID:12804/inferred", source="NCIT:C61263/inferred", source="Orphanet:582/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease is_a: MONDO:0005328 ! eye disorder @@ -363159,19 +362997,19 @@ synonym: "muscle-eye-brain syndrome" EXACT [Orphanet:588] synonym: "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" NARROW [GARD:0000156] synonym: "Santavuori congenital muscular dystrophy" EXACT [Orphanet:588] xref: GARD:0000156 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:588", source="ORDO:588/attributed", source="ORDO:588/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:588", source="Orphanet:588/attributed", source="Orphanet:588/ntbt"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:236670 {source="MONDO:relatedTo", source="ORDO:588/ntbt"} -xref: OMIM:253280 {source="MONDO:superClassOf", source="ORDO:588/btnt"} -xref: OMIM:253800 {source="MONDO:superClassOf", source="ORDO:588/btnt"} -xref: OMIM:613150 {source="MONDO:superClassOf", source="ORDO:588/btnt"} -xref: OMIM:613153 {source="MONDO:superClassOf", source="ORDO:588/btnt"} -xref: OMIM:613154 {source="MONDO:superClassOf", source="ORDO:588/btnt"} -xref: OMIM:615181 {source="MONDO:superClassOf", source="ORDO:588/btnt"} -xref: OMIM:615350 {source="MONDO:superClassOf", source="ORDO:588/btnt"} +xref: OMIM:236670 {source="MONDO:relatedTo", source="Orphanet:588/ntbt"} +xref: OMIM:253280 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} +xref: OMIM:253800 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} +xref: OMIM:613150 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} +xref: OMIM:613153 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} +xref: OMIM:613154 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} +xref: OMIM:615181 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} +xref: OMIM:615350 {source="Orphanet:588/btnt", source="MONDO:superClassOf"} xref: Orphanet:588 {source="MONDO:equivalentTo"} xref: SCTID:277950001 {source="MONDO:equivalentTo"} -xref: UMLS:C0457133 {source="Orphanet:588", source="MONDO:notFoundInDiseaseSubset", source="ORDO:588/e"} +xref: UMLS:C0457133 {source="Orphanet:588", source="Orphanet:588/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0016157 {source="Orphanet:588"} ! qualitative or quantitative defects of fukutin @@ -363204,42 +363042,42 @@ synonym: "myasthenic syndrome, congenital" EXACT [OMIMPS:601462] xref: DOID:3635 {source="MONDO:equivalentTo"} xref: GARD:0000098 {source="MONDO:equivalentTo"} xref: GARD:0011902 {source="MONDO:equivalentTo"} -xref: ICD10CM:G70.2 {source="ORDO:590/specific", source="ORDO:590/e", source="Orphanet:590"} +xref: ICD10CM:G70.2 {source="Orphanet:590/specific", source="Orphanet:590", source="Orphanet:590/e"} xref: ICD9:358.00 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:V17.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D020294 {source="ORDO:590/e", source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590"} +xref: MESH:D020294 {source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590", source="Orphanet:590/e"} xref: NCIT:C84647 {source="MONDO:equivalentTo", source="DOID:3635"} -xref: OMIM:254190 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:254210 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:254300 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:601462 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:603034 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:605809 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:608930 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:608931 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:610542 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:614198 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:614750 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:615120 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616040 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616227 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616228 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616304 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616313 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616314 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616321 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616322 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616323 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616324 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616325 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616326 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616330 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:616720 {source="MONDO:superClassOf", source="ORDO:590/btnt"} -xref: OMIM:617143 {source="MONDO:superClassOf", source="ORDO:590/btnt"} +xref: OMIM:254190 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:254210 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:254300 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:601462 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:603034 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:605809 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:608930 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:608931 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:610542 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:614198 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:614750 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:615120 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616040 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616227 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616228 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616304 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616313 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616314 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616321 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616322 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616323 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616324 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616325 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616326 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616330 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:616720 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} +xref: OMIM:617143 {source="MONDO:superClassOf", source="Orphanet:590/btnt"} xref: OMIMPS:601462 {source="MONDO:equivalentTo", source="DOID:3635"} xref: Orphanet:590 {source="MONDO:equivalentTo", source="DOID:3635"} xref: SCTID:230672006 {source="MONDO:equivalentTo", source="DOID:3635"} -xref: UMLS:C0751882 {source="NCIT:C84647", source="ORDO:590/e", source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590"} +xref: UMLS:C0751882 {source="NCIT:C84647", source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590", source="Orphanet:590/e"} is_a: MONDO:0002254 {source="NCIT:C84647"} ! syndromic disease is_a: MONDO:0020124 {source="DOID:3635", source="MESH:D020294", source="MONDO:Redundant", source="Orphanet:590", source="Orphanet:590/inferred", source="linkedlifedata/inferred"} ! neuromuscular junction disease is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -363257,7 +363095,7 @@ subset: ordo_disease {source="Orphanet:591"} synonym: "furunculoid myiasis" EXACT [Orphanet:591] synonym: "furunculous myiasis" EXACT [Orphanet:591] xref: GARD:0002418 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:B87.0 {source="MONDO:subClassOf", source="ORDO:591/ntbt", source="Orphanet:591"} +xref: ICD10CM:B87.0 {source="MONDO:subClassOf", source="Orphanet:591", source="Orphanet:591/ntbt"} xref: MESH:C538194 {source="MONDO:equivalentTo"} xref: Orphanet:591 {source="MONDO:equivalentTo"} xref: UMLS:C2931766 {source="MONDO:equivalentTo", source="Orphanet:591"} @@ -363271,11 +363109,11 @@ subset: ordo_disease {source="Orphanet:592"} synonym: "Macrophagic myofasciitis, childhood" RELATED [GARD:0000176] synonym: "MMF" EXACT ABBREVIATION [Orphanet:592] xref: GARD:0000176 {source="MONDO:equivalentTo"} -xref: ICD10CM:M60.8 {source="ORDO:592/ntbt", source="Orphanet:592"} -xref: MESH:C537829 {source="MONDO:equivalentTo", source="ORDO:592/e", source="Orphanet:592"} +xref: ICD10CM:M60.8 {source="Orphanet:592/ntbt", source="Orphanet:592"} +xref: MESH:C537829 {source="Orphanet:592/e", source="MONDO:equivalentTo", source="Orphanet:592"} xref: Orphanet:592 {source="MONDO:equivalentTo"} xref: SCTID:718175009 {source="MONDO:equivalentTo"} -xref: UMLS:C2931639 {source="MONDO:equivalentTo", source="ORDO:592/e", source="Orphanet:592"} +xref: UMLS:C2931639 {source="Orphanet:592/e", source="MONDO:equivalentTo", source="Orphanet:592"} is_a: MONDO:0016105 {source="Orphanet:592"} ! acquired skeletal muscle disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis xsd:anyURI {source="GARD:0000176"} @@ -363300,7 +363138,7 @@ synonym: "Zaspopathy (type)" RELATED [GARD:0010529] xref: DOID:0080307 {source="MONDO:equivalentTo"} xref: GARD:0010529 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0003715 {source="MONDO:otherHierarchy"} -xref: ICD10CM:G71.8 {source="ORDO:593/attributed", source="ORDO:593/ntbt", source="Orphanet:593"} +xref: ICD10CM:G71.8 {source="Orphanet:593", source="Orphanet:593/attributed", source="Orphanet:593/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C580316 {source="MONDO:equivalentTo"} xref: NCIT:C83009 {source="MONDO:equivalentTo"} @@ -363333,9 +363171,9 @@ xref: ICD10CM:O01 {source="DOID:3590"} xref: ICD10CM:O01.0 {source="DOID:3590"} xref: ICD10CM:O01.9 {source="DOID:3590"} xref: ICD9:630 {source="DOID:3590"} -xref: MedDRA:10061988 {source="Orphanet:59305", source="ORDO:59305/e"} +xref: MedDRA:10061988 {source="Orphanet:59305", source="Orphanet:59305/e"} xref: MESH:D006828 {source="DOID:3590", source="MONDO:directSiblingOf"} -xref: MESH:D031901 {source="Orphanet:59305", source="ORDO:59305/e", source="DOID:3590"} +xref: MESH:D031901 {source="Orphanet:59305", source="Orphanet:59305/e", source="DOID:3590"} xref: NCIT:C3110 {source="DOID:3590", source="MONDO:directSiblingOf"} xref: NCIT:C4699 {source="MONDO:equivalentTo", source="DOID:3590"} xref: NCIT:C7887 {source="DOID:3590"} @@ -363360,7 +363198,7 @@ xref: SCTID:609517002 {source="DOID:3590"} xref: SCTID:609519004 {source="MONDO:equivalentTo", source="DOID:3590"} xref: UMLS:C0020217 {source="DOID:3590", source="MONDO:directSiblingOf"} xref: UMLS:C0278796 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3590"} -xref: UMLS:C1135868 {source="Orphanet:59305", source="MONDO:equivalentTo", source="NCIT:C4699", source="ORDO:59305/e", source="DOID:3590"} +xref: UMLS:C1135868 {source="Orphanet:59305", source="MONDO:equivalentTo", source="Orphanet:59305/e", source="NCIT:C4699", source="DOID:3590"} is_a: MONDO:0002872 {source="DOID:3590", source="NCIT:C4699"} ! trophoblastic neoplasm is_a: MONDO:0016784 {source="MONDO:Redundant", source="Orphanet:59305", source="linkedlifedata"} ! gestational trophoblastic disease is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4699", source="indirect"} ! female reproductive system neoplasm @@ -363384,10 +363222,10 @@ synonym: "neuroacanthocytosis, McLeod type" RELATED [OMIM:300842] synonym: "X-linked McLeod syndrome" EXACT [Orphanet:59306] xref: GARD:0010731 {source="MONDO:equivalentTo"} xref: HGNC:12811 {source="GARD:0010731"} -xref: ICD10CM:G10 {source="Orphanet:59306", source="ORDO:59306/attributed", source="ORDO:59306/ntbt"} +xref: ICD10CM:G10 {source="Orphanet:59306", source="Orphanet:59306/attributed", source="Orphanet:59306/ntbt"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C564038 {source="MONDO:equivalentTo"} -xref: OMIM:300842 {source="Orphanet:59306", source="MONDO:equivalentTo", source="ORDO:59306/ntbt"} +xref: OMIM:300842 {source="Orphanet:59306", source="Orphanet:59306/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:59306 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:300842"} xref: SCTID:234411007 {source="MONDO:equivalentTo"} xref: UMLS:C0398568 {source="Orphanet:59306", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300842"} @@ -363408,11 +363246,11 @@ id: MONDO:0018946 name: rhombencephalosynapsis def: "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." [Orphanet:59315] subset: ordo_malformation_syndrome {source="Orphanet:59315"} -xref: ICD10CM:Q04.3 {source="ORDO:59315/ntbt", source="Orphanet:59315"} +xref: ICD10CM:Q04.3 {source="Orphanet:59315/ntbt", source="Orphanet:59315"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:59315 {source="MONDO:equivalentTo"} xref: SCTID:442300000 {source="MONDO:equivalentTo"} -xref: UMLS:C1866130 {source="MONDO:equivalentTo", source="ORDO:59315/e", source="Orphanet:59315"} +xref: UMLS:C1866130 {source="Orphanet:59315/e", source="MONDO:equivalentTo", source="Orphanet:59315"} is_a: MONDO:0015915 {source="Orphanet:59315"} ! cerebellar malformation [Term] @@ -363429,7 +363267,7 @@ synonym: "myopathy, myotubular" RELATED [GARD:0000101] synonym: "myotubular myopathy" EXACT [DOID:14717] xref: DOID:14717 {source="MONDO:equivalentTo"} xref: GARD:0000101 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="ORDO:595/inclusion", source="ORDO:595/ntbt", source="Orphanet:595"} +xref: ICD10CM:G71.2 {source="Orphanet:595/ntbt", source="Orphanet:595/inclusion", source="Orphanet:595"} xref: MESH:D020914 {source="MONDO:relatedTo", source="DOID:14717"} xref: NCIT:C84648 {source="MONDO:relatedTo", source="DOID:14717"} xref: OMIM:160150 {source="DOID:14717", source="MONDO:superClassOf"} @@ -363461,10 +363299,10 @@ synonym: "multicore disease" EXACT [GARD:0009130] synonym: "multicore myopathy" EXACT [GARD:0009130] synonym: "multiminicore disease" EXACT [Orphanet:598] xref: GARD:0009130 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:598", source="ORDO:598/inclusion", source="ORDO:598/ntbt"} -xref: OMIM:117000 {source="MONDO:subClassOf", source="Orphanet:598", source="MONDO:directSiblingOf", source="ORDO:598/ntbt"} -xref: OMIM:255320 {source="Orphanet:598", source="MONDO:superClassOf", source="ORDO:598/btnt"} -xref: OMIM:602771 {source="Orphanet:598", source="MONDO:superClassOf", source="ORDO:598/btnt"} +xref: ICD10CM:G71.2 {source="Orphanet:598", source="Orphanet:598/ntbt", source="Orphanet:598/inclusion"} +xref: OMIM:117000 {source="MONDO:subClassOf", source="Orphanet:598", source="Orphanet:598/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:255320 {source="Orphanet:598", source="Orphanet:598/btnt", source="MONDO:superClassOf"} +xref: OMIM:602771 {source="Orphanet:598", source="Orphanet:598/btnt", source="MONDO:superClassOf"} xref: Orphanet:598 {source="MONDO:equivalentTo"} xref: SCTID:55133004 {source="MONDO:equivalentTo"} xref: UMLS:C0270962 {source="Orphanet:598", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset"} @@ -363483,7 +363321,7 @@ synonym: "distal muscular dystrophy" EXACT [MONDO:0001346, Orphanet:599] synonym: "distal myopathy" EXACT [DOID:11720] synonym: "Miyoshi muscular dystrophy" EXACT [DOID:11720] xref: DOID:11720 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:599", source="DOID:11720", source="ORDO:599/inclusion", source="ORDO:599/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:599", source="DOID:11720", source="Orphanet:599/ntbt", source="Orphanet:599/inclusion"} xref: MESH:D049310 {source="DOID:11720"} xref: NCIT:C84675 {source="DOID:11720", source="MONDO:equivalentTo"} xref: OMIM:160300 {source="DOID:11720", source="MONDO:superClassOf"} @@ -363523,15 +363361,15 @@ synonym: "Methylcrotonyl-CoA carboxylase deficiency" EXACT [NCIT:C98674] synonym: "methylcrotonylglycinuria" RELATED [OMIMPS:210200] xref: DOID:0050710 {source="MONDO:equivalentTo"} xref: GARD:0010954 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.1 {source="Orphanet:6", source="ORDO:6/attributed", source="ORDO:6/ntbt"} -xref: MESH:C535308 {source="Orphanet:6", source="MONDO:superClassOf", source="ORDO:6/e"} +xref: ICD10CM:E71.1 {source="Orphanet:6/attributed", source="Orphanet:6/ntbt", source="Orphanet:6"} +xref: MESH:C535308 {source="Orphanet:6", source="MONDO:superClassOf", source="Orphanet:6/e"} xref: NCIT:C98674 {source="MONDO:equivalentTo"} -xref: OMIM:210200 {source="Orphanet:6", source="DOID:0050710", source="MONDO:superClassOf", source="ORDO:6/btnt"} -xref: OMIM:210210 {source="Orphanet:6", source="DOID:0050710", source="MONDO:superClassOf", source="ORDO:6/btnt"} +xref: OMIM:210200 {source="Orphanet:6/btnt", source="Orphanet:6", source="DOID:0050710", source="MONDO:superClassOf"} +xref: OMIM:210210 {source="Orphanet:6/btnt", source="Orphanet:6", source="DOID:0050710", source="MONDO:superClassOf"} xref: OMIMPS:210200 {source="MONDO:equivalentTo"} xref: Orphanet:6 {source="MONDO:equivalentTo"} xref: SCTID:13144005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268600 {source="Orphanet:6", source="MONDO:equivalentTo", source="NCIT:C98674", source="ORDO:6/e"} +xref: UMLS:C0268600 {source="Orphanet:6", source="MONDO:equivalentTo", source="Orphanet:6/e", source="NCIT:C98674"} xref: UMLS:CN239165 {source="MONDO:equivalentTo"} is_a: MONDO:0019215 {source="Orphanet:6"} ! classic organic aciduria relationship: disease_has_basis_in_disruption_of GO:0004485 ! methylcrotonoyl-CoA carboxylase activity @@ -363550,8 +363388,8 @@ synonym: "MPD2" RELATED ABBREVIATION [GARD:0001887] synonym: "VCPDM" EXACT ABBREVIATION [Orphanet:600] synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600] xref: GARD:0001887 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:600", source="ORDO:600/attributed", source="ORDO:600/ntbt"} -xref: OMIM:606070 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:600", source="ORDO:600/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:600/attributed", source="Orphanet:600/ntbt", source="Orphanet:600"} +xref: OMIM:606070 {source="MONDO:subClassOf", source="Orphanet:600/ntbt", source="MONDO:relatedTo", source="Orphanet:600"} xref: Orphanet:600 {source="MONDO:equivalentTo"} xref: UMLS:CN205357 {source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:600"} ! autosomal dominant distal myopathy @@ -363563,11 +363401,11 @@ name: argyria def: "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." [Orphanet:60014] subset: ordo_disease {source="Orphanet:60014"} synonym: "Silver staining" EXACT [Orphanet:60014] -xref: ICD10CM:T56.8 {source="Orphanet:60014", source="ORDO:60014/ntbt"} -xref: MedDRA:10003094 {source="ORDO:60014/e", source="Orphanet:60014"} -xref: MESH:D001129 {source="ORDO:60014/e", source="Orphanet:60014", source="MONDO:equivalentTo"} +xref: ICD10CM:T56.8 {source="Orphanet:60014/ntbt", source="Orphanet:60014"} +xref: MedDRA:10003094 {source="Orphanet:60014", source="Orphanet:60014/e"} +xref: MESH:D001129 {source="Orphanet:60014", source="MONDO:equivalentTo", source="Orphanet:60014/e"} xref: Orphanet:60014 {source="MONDO:equivalentTo"} -xref: UMLS:C0003782 {source="ORDO:60014/e", source="Orphanet:60014", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0003782 {source="Orphanet:60014", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:60014/e"} is_a: MONDO:0029000 {source="Orphanet:60014"} ! poisoning relationship: has_modifier MONDO:0021136 {source="MONDO:0015224"} ! rare @@ -363586,11 +363424,11 @@ synonym: "parietal foramina" EXACT CLINGEN_PREFERRED [] synonym: "symmetric parietal foramina" EXACT [Orphanet:60015] xref: DOID:0060285 {source="MONDO:equivalentTo"} xref: HP:0002697 {source="DOID:0060285", source="MONDO:otherHierarchy"} -xref: ICD10CM:Q75.8 {source="Orphanet:60015", source="ORDO:60015/attributed", source="ORDO:60015/ntbt"} +xref: ICD10CM:Q75.8 {source="Orphanet:60015", source="Orphanet:60015/attributed", source="Orphanet:60015/ntbt"} xref: MESH:C566826 {source="DOID:0060285", source="MONDO:equivalentTo"} -xref: OMIM:168500 {source="DOID:0060285", source="ORDO:60015/e", source="MONDO:superClassOf", source="Orphanet:60015"} -xref: OMIM:609566 {source="DOID:0060285", source="MONDO:superClassOf", source="Orphanet:60015", source="ORDO:60015/btnt"} -xref: OMIM:609597 {source="DOID:0060285", source="MONDO:superClassOf", source="Orphanet:60015", source="ORDO:60015/btnt"} +xref: OMIM:168500 {source="DOID:0060285", source="MONDO:superClassOf", source="Orphanet:60015", source="Orphanet:60015/e"} +xref: OMIM:609566 {source="DOID:0060285", source="MONDO:superClassOf", source="Orphanet:60015", source="Orphanet:60015/btnt"} +xref: OMIM:609597 {source="DOID:0060285", source="MONDO:superClassOf", source="Orphanet:60015", source="Orphanet:60015/btnt"} xref: OMIMPS:168500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:60015 {source="DOID:0060285", source="MONDO:equivalentTo"} xref: SCTID:718099006 {source="MONDO:equivalentTo"} @@ -363611,12 +363449,12 @@ synonym: "aortic aneurysm syndrome, Loeys-Dietz type" RELATED [GARD:0010788] synonym: "Loeys-Dietz syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0050466 {source="MONDO:equivalentTo"} xref: GARD:0010788 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.4 {source="ORDO:60030/attributed", source="ORDO:60030/ntbt", source="Orphanet:60030"} +xref: ICD10CM:Q87.4 {source="Orphanet:60030/attributed", source="Orphanet:60030/ntbt", source="Orphanet:60030"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D055947 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: NCIT:C75006 {source="DOID:0050466", source="MONDO:equivalentTo"} -xref: OMIM:609192 {source="DOID:0050466", source="MONDO:superClassOf", source="ORDO:60030/e", source="Orphanet:60030"} -xref: OMIM:610168 {source="DOID:0050466", source="MONDO:superClassOf", source="ORDO:60030/btnt", source="Orphanet:60030"} +xref: OMIM:609192 {source="Orphanet:60030/e", source="DOID:0050466", source="MONDO:superClassOf", source="Orphanet:60030"} +xref: OMIM:610168 {source="DOID:0050466", source="MONDO:superClassOf", source="Orphanet:60030/btnt", source="Orphanet:60030"} xref: OMIM:613795 {source="DOID:0050466", source="MONDO:superClassOf"} xref: OMIM:614816 {source="DOID:0050466", source="MONDO:superClassOf"} xref: OMIMPS:609192 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -363649,12 +363487,12 @@ synonym: "respiratory papillomatosis, recurrent" RELATED [GARD:0000111] synonym: "RRP" EXACT ABBREVIATION [GARD:0000111, NCIT:C128637] xref: GARD:0000111 {source="MONDO:equivalentTo"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059314 {source="Orphanet:60032", source="ORDO:60032/e"} -xref: MESH:C535297 {source="Orphanet:60032", source="MONDO:equivalentTo", source="ORDO:60032/e"} +xref: MedDRA:10059314 {source="Orphanet:60032", source="Orphanet:60032/e"} +xref: MESH:C535297 {source="Orphanet:60032", source="MONDO:equivalentTo", source="Orphanet:60032/e"} xref: NCIT:C128637 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:60032 {source="MONDO:equivalentTo"} xref: SCTID:472827002 {source="MONDO:equivalentTo"} -xref: UMLS:C1168198 {source="Orphanet:60032", source="MONDO:equivalentTo", source="NCIT:C128637", source="ORDO:60032/e"} +xref: UMLS:C1168198 {source="Orphanet:60032", source="MONDO:equivalentTo", source="Orphanet:60032/e", source="NCIT:C128637"} is_a: MONDO:0005087 {source="Orphanet:60032"} ! respiratory system disorder is_a: MONDO:0021098 {source="NCIT:C128637"} ! papillomatosis is_a: MONDO:0024623 {source="Orphanet:60032"} ! otorhinolaryngologic disease @@ -363666,13 +363504,13 @@ id: MONDO:0018956 name: idiopathic bronchiectasis def: "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." [Orphanet:60033] subset: ordo_disease {source="Orphanet:60033"} -xref: ICD10CM:J47 {source="MONDO:subClassOf", source="Orphanet:60033", source="ORDO:60033/attributed", source="ORDO:60033/ntbt"} -xref: OMIM:211400 {source="Orphanet:60033", source="MONDO:superClassOf", source="ORDO:60033/btnt"} -xref: OMIM:613021 {source="Orphanet:60033", source="MONDO:superClassOf", source="ORDO:60033/btnt"} -xref: OMIM:613071 {source="Orphanet:60033", source="MONDO:superClassOf", source="ORDO:60033/btnt"} +xref: ICD10CM:J47 {source="MONDO:subClassOf", source="Orphanet:60033/attributed", source="Orphanet:60033/ntbt", source="Orphanet:60033"} +xref: OMIM:211400 {source="Orphanet:60033/btnt", source="Orphanet:60033", source="MONDO:superClassOf"} +xref: OMIM:613021 {source="Orphanet:60033/btnt", source="Orphanet:60033", source="MONDO:superClassOf"} +xref: OMIM:613071 {source="Orphanet:60033/btnt", source="Orphanet:60033", source="MONDO:superClassOf"} xref: Orphanet:60033 {source="MONDO:equivalentTo"} xref: SCTID:233629001 {source="MONDO:equivalentTo"} -xref: UMLS:C0339985 {source="Orphanet:60033", source="MONDO:equivalentTo", source="ORDO:60033/e"} +xref: UMLS:C0339985 {source="Orphanet:60033", source="MONDO:equivalentTo", source="Orphanet:60033/e"} is_a: MONDO:0004822 {source="linkedlifedata", source="linkedlifedata/inferred"} ! bronchiectasis is_a: MONDO:0005087 {source="Orphanet:60033"} ! respiratory system disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare @@ -363693,12 +363531,12 @@ synonym: "pudendal nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "pudendal neuralgia by pudendal nerve entrapment" EXACT [Orphanet:60039] synonym: "Pudendalgia" EXACT [Orphanet:60039] xref: GARD:0010713 {source="MONDO:equivalentTo"} -xref: ICD10CM:M79.2 {source="ORDO:60039/ntbt", source="Orphanet:60039"} +xref: ICD10CM:M79.2 {source="Orphanet:60039", source="Orphanet:60039/ntbt"} xref: ICD9:729.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D060545 {source="ORDO:60039/e", source="MONDO:equivalentTo", source="Orphanet:60039"} +xref: MESH:D060545 {source="MONDO:equivalentTo", source="Orphanet:60039", source="Orphanet:60039/e"} xref: Orphanet:60039 {source="MONDO:equivalentTo"} xref: SCTID:427972000 {source="MONDO:equivalentTo"} -xref: UMLS:C1997249 {source="ORDO:60039/e", source="MONDO:equivalentTo", source="Orphanet:60039"} +xref: UMLS:C1997249 {source="MONDO:equivalentTo", source="Orphanet:60039", source="Orphanet:60039/e"} xref: UMLS:C3178970 {source="MONDO:equivalentTo", source="Orphanet:60039"} xref: UMLS:CN226268 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:60039"} ! acquired peripheral neuropathy @@ -363724,12 +363562,12 @@ synonym: "rod myopathy" EXACT [DOID:3191] synonym: "Rod-body myopathy" RELATED [GARD:0012033] xref: DOID:3191 {source="MONDO:equivalentTo"} xref: GARD:0012033 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="ORDO:607/ntbt", source="DOID:3191", source="Orphanet:607", source="ORDO:607/inclusion"} -xref: MESH:D017696 {source="MONDO:equivalentTo", source="ORDO:607/e", source="DOID:3191", source="Orphanet:607"} +xref: ICD10CM:G71.2 {source="Orphanet:607/inclusion", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/ntbt"} +xref: MESH:D017696 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"} xref: OMIMPS:161800 {source="MONDO:equivalentTo", source="DOID:3191"} xref: Orphanet:607 {source="MONDO:equivalentTo", source="DOID:3191"} xref: SCTID:75072002 {source="MONDO:equivalentTo", source="DOID:3191"} -xref: UMLS:C0206157 {source="MONDO:equivalentTo", source="ORDO:607/e", source="DOID:3191", source="Orphanet:607"} +xref: UMLS:C0206157 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"} is_a: MONDO:0002921 {source="DOID:3191", source="MESH:D017696"} ! congenital structural myopathy is_a: MONDO:0016110 {source="Orphanet:607", source="Orphanet:607/inferred"} ! non-dystrophic myopathy relationship: has_modifier MONDO:0021152 {source="OMIMPS:161800"} ! inherited @@ -363753,17 +363591,17 @@ synonym: "PAM" EXACT ABBREVIATION [Orphanet:612] synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] xref: GARD:0004459 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.1 {source="Orphanet:612", source="ORDO:612/attributed", source="ORDO:612/ntbt"} -xref: MESH:C538353 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"} +xref: ICD10CM:G71.1 {source="Orphanet:612", source="Orphanet:612/attributed", source="Orphanet:612/ntbt"} +xref: MESH:C538353 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} xref: NCIT:C122788 {source="MONDO:equivalentTo"} -xref: OMIM:608390 {source="ORDO:612/e", source="Orphanet:612", source="MONDO:equivalentTo"} +xref: OMIM:608390 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} xref: Orphanet:612 {source="OMIM:608390", source="MONDO:equivalentTo"} xref: Orphanet:99734 {source="OMIM:608390"} xref: Orphanet:99735 {source="OMIM:608390"} xref: Orphanet:99736 {source="OMIM:608390"} xref: SCTID:702355008 {source="MONDO:equivalentTo"} xref: UMLS:C0856123 {source="Orphanet:612", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931826 {source="ORDO:612/e", source="OMIM:608390", source="Orphanet:612", source="MONDO:equivalentTo", source="NCIT:C122788"} +xref: UMLS:C2931826 {source="OMIM:608390", source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e", source="NCIT:C122788"} xref: UMLS:C3149517 {source="OMIM:608390"} is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome is_a: MONDO:0019119 {source="Orphanet:612"} ! muscular channelopathy @@ -363781,7 +363619,7 @@ synonym: "congenital megalo-ureter" RELATED [GARD:0001492] synonym: "congenital primary megalo-ureter" EXACT [Orphanet:617] xref: GARD:0000219 {source="MONDO:equivalentTo"} xref: GARD:0001492 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q62.2 {source="ORDO:617/specific", source="ORDO:617/e", source="Orphanet:617"} +xref: ICD10CM:Q62.2 {source="Orphanet:617/specific", source="Orphanet:617", source="Orphanet:617/e"} xref: Orphanet:617 {source="MONDO:equivalentTo"} xref: SCTID:717459000 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:617", source="Orphanet:617/inferred"} ! kidney disorder @@ -363801,25 +363639,25 @@ subset: ordo_disease {source="Orphanet:618"} synonym: "hereditary melanoma (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:6846 {source="MONDO:equivalentTo"} xref: GARD:0003460 {source="MONDO:equivalentTo"} -xref: ICD10CM:C43.0 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.1 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.2 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.3 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.4 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.5 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.6 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.7 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} -xref: ICD10CM:C43.8 {source="ORDO:618/btnt", source="Orphanet:618", source="ORDO:618/specific"} +xref: ICD10CM:C43.0 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.1 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.2 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.3 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.4 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.5 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.6 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.7 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: ICD10CM:C43.8 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"} xref: NCIT:C8498 {source="DOID:6846", source="MONDO:equivalentTo"} -xref: OMIM:155600 {source="MONDO:subClassOf", source="ORDO:618/ntbt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:155601 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:155700 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:608035 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:609048 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:613099 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:613972 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:615134 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} -xref: OMIM:615848 {source="ORDO:618/btnt", source="MONDO:superClassOf", source="Orphanet:618"} +xref: OMIM:155600 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/ntbt"} +xref: OMIM:155601 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:155700 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:608035 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:609048 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:613099 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:613972 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:615134 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} +xref: OMIM:615848 {source="MONDO:superClassOf", source="Orphanet:618", source="Orphanet:618/btnt"} xref: Orphanet:618 {source="MONDO:equivalentTo"} xref: UMLS:C1512419 {source="DOID:6846", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2314896 {source="MONDO:equivalentTo", source="Orphanet:618"} @@ -363835,7 +363673,7 @@ id: MONDO:0018962 name: common mesentery subset: ordo_morphological_anomaly {source="Orphanet:620"} synonym: "universal mesentery" EXACT [Orphanet:620] -xref: ICD10CM:Q43.3 {source="Orphanet:620", source="ORDO:620/inclusion", source="ORDO:620/ntbt"} +xref: ICD10CM:Q43.3 {source="Orphanet:620", source="Orphanet:620/ntbt", source="Orphanet:620/inclusion"} xref: Orphanet:620 {source="MONDO:equivalentTo"} xref: SCTID:52159006 {source="MONDO:equivalentTo"} xref: UMLS:C0266235 {source="MONDO:equivalentTo"} @@ -363850,12 +363688,12 @@ synonym: "autosomal recessive methemoglobinemia" EXACT [Orphanet:621] synonym: "congenital methemoglobinemia" EXACT [Orphanet:621] synonym: "hereditary methemoglobinemia" EXACT [MONDO:patterns/hereditary] xref: GARD:0002659 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D74.0 {source="Orphanet:621", source="ORDO:621/attributed", source="ORDO:621/ntbt"} +xref: ICD10CM:D74.0 {source="Orphanet:621", source="Orphanet:621/attributed", source="Orphanet:621/ntbt"} xref: MESH:C580280 {source="MONDO:equivalentTo"} xref: NCIT:C98898 {source="MONDO:equivalentTo"} -xref: OMIM:250700 {source="Orphanet:621", source="MONDO:superClassOf", source="ORDO:621/btnt"} -xref: OMIM:250790 {source="Orphanet:621", source="MONDO:superClassOf", source="ORDO:621/btnt"} -xref: OMIM:250800 {source="Orphanet:621", source="MONDO:superClassOf", source="ORDO:621/btnt"} +xref: OMIM:250700 {source="Orphanet:621", source="Orphanet:621/btnt", source="MONDO:superClassOf"} +xref: OMIM:250790 {source="Orphanet:621", source="Orphanet:621/btnt", source="MONDO:superClassOf"} +xref: OMIM:250800 {source="Orphanet:621", source="Orphanet:621/btnt", source="MONDO:superClassOf"} xref: Orphanet:621 {source="MONDO:equivalentTo"} xref: SCTID:267550008 {source="MONDO:equivalentTo"} xref: UMLS:C0272087 {source="Orphanet:621", source="MONDO:equivalentTo", source="NCIT:C98898"} @@ -363875,10 +363713,10 @@ subset: ordo_disease {source="Orphanet:622"} synonym: "functional methionine synthase deficiency" EXACT [Orphanet:622] synonym: "homocystinuria without methylmalonic aciduria" EXACT [] synonym: "methylcobalamin deficiency" EXACT [Orphanet:622] -xref: ICD10CM:E72.1 {source="Orphanet:622", source="ORDO:622/attributed", source="ORDO:622/ntbt"} -xref: OMIM:236270 {source="Orphanet:622", source="MONDO:superClassOf", source="ORDO:622/btnt"} -xref: OMIM:250940 {source="Orphanet:622", source="MONDO:superClassOf", source="ORDO:622/btnt"} -xref: OMIM:277410 {source="MONDO:relatedTo", source="Orphanet:622", source="MONDO:superClassOf", source="ORDO:622/btnt"} +xref: ICD10CM:E72.1 {source="Orphanet:622/attributed", source="Orphanet:622/ntbt", source="Orphanet:622"} +xref: OMIM:236270 {source="Orphanet:622/btnt", source="Orphanet:622", source="MONDO:superClassOf"} +xref: OMIM:250940 {source="Orphanet:622/btnt", source="Orphanet:622", source="MONDO:superClassOf"} +xref: OMIM:277410 {source="Orphanet:622/btnt", source="MONDO:relatedTo", source="Orphanet:622", source="MONDO:superClassOf"} xref: Orphanet:622 {source="MONDO:equivalentTo"} xref: SCTID:721225009 {source="MONDO:equivalentTo"} xref: UMLS:C4303479 {source="MONDO:equivalentTo"} @@ -363900,20 +363738,20 @@ synonym: "Alport syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Alport's syndrome" EXACT [NCIT:C34842] synonym: "hereditary nephritis" BROAD [DOID:10983, NCIT:C34842] xref: DOID:10983 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:63/inclusion", source="ORDO:63/ntbt", source="Orphanet:63"} +xref: ICD10CM:Q87.8 {source="Orphanet:63/ntbt", source="Orphanet:63/inclusion", source="Orphanet:63"} xref: ICD10CM:Q87.81 {source="MONDO:equivalentTo"} -xref: MedDRA:10001843 {source="Orphanet:63", source="ORDO:63/e"} -xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63", source="ORDO:63/e"} +xref: MedDRA:10001843 {source="Orphanet:63/e", source="Orphanet:63"} +xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63/e", source="Orphanet:63"} xref: NCIT:C34842 {source="MONDO:equivalentTo"} -xref: OMIM:104200 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} -xref: OMIM:203780 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} -xref: OMIM:301050 {source="MONDO:superClassOf", source="ORDO:63/btnt", source="Orphanet:63"} +xref: OMIM:104200 {source="MONDO:superClassOf", source="Orphanet:63/btnt", source="Orphanet:63"} +xref: OMIM:203780 {source="MONDO:superClassOf", source="Orphanet:63/btnt", source="Orphanet:63"} +xref: OMIM:301050 {source="MONDO:superClassOf", source="Orphanet:63/btnt", source="Orphanet:63"} xref: OMIMPS:301050 {source="MONDO:equivalentTo"} xref: Orphanet:63 {source="DOID:10983", source="MONDO:equivalentTo"} xref: SCTID:399340005 {source="DOID:10983"} xref: SCTID:57333009 {source="DOID:10983"} xref: UMLS:C0027706 {source="DOID:10983", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1567741 {source="MONDO:equivalentTo", source="NCIT:C34842", source="Orphanet:63", source="ORDO:63/e"} +xref: UMLS:C1567741 {source="Orphanet:63/e", source="MONDO:equivalentTo", source="NCIT:C34842", source="Orphanet:63"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34842", source="indirect"} ! syndromic disease is_a: MONDO:0005240 ! kidney disorder is_a: MONDO:0005334 {source="https://orcid.org/0000-0003-4546-6667"} ! hereditary nephritis @@ -363934,8 +363772,8 @@ id: MONDO:0018967 name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia comment: Editor note: classified as both isolated and syndromic in ORDO subset: ordo_clinical_subtype {source="Orphanet:632"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:632", source="ORDO:632/attributed", source="ORDO:632/ntbt"} -xref: OMIM:307200 {source="MONDO:subClassOf", source="Orphanet:632", source="ORDO:632/e"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:632", source="Orphanet:632/attributed", source="Orphanet:632/ntbt"} +xref: OMIM:307200 {source="MONDO:subClassOf", source="Orphanet:632", source="Orphanet:632/e"} xref: Orphanet:632 {source="MONDO:equivalentTo"} xref: UMLS:C0472813 {source="Orphanet:632", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0010615 {source="Orphanet:632"} ! isolated growth hormone deficiency type III @@ -363949,13 +363787,13 @@ def: "Iniencephaly is a rare form of neural tube defect in which a malformation subset: gard_rare {source="GARD:0010506"} subset: ordo_morphological_anomaly {source="Orphanet:63259"} xref: GARD:0010506 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q00.2 {source="ORDO:63259/specific", source="ORDO:63259/e", source="Orphanet:63259", source="MONDO:equivalentTo"} +xref: ICD10CM:Q00.2 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="Orphanet:63259/specific"} xref: ICD9:740.2 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10022034 {source="ORDO:63259/e", source="Orphanet:63259"} +xref: MedDRA:10022034 {source="Orphanet:63259", source="Orphanet:63259/e"} xref: NCIT:C124549 {source="MONDO:equivalentTo"} xref: Orphanet:63259 {source="MONDO:equivalentTo"} xref: SCTID:2438005 {source="MONDO:equivalentTo"} -xref: UMLS:C0152234 {source="ORDO:63259/e", source="Orphanet:63259", source="MONDO:equivalentTo", source="NCIT:C124549"} +xref: UMLS:C0152234 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="NCIT:C124549"} is_a: MONDO:0017059 {source="Orphanet:63259"} ! neural tube closure defect is_a: MONDO:0018075 {source="MONDO:Redundant", source="NCIT:C124549", source="Orphanet:63259/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neural tube defect property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10506/iniencephaly xsd:anyURI {source="GARD:0010506"} @@ -363970,13 +363808,13 @@ synonym: "craniorachischisis" EXACT [MONDO:ambiguous] synonym: "craniorachischisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:0010504 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0030770 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q00.1 {source="ORDO:63260/e", source="Orphanet:63260", source="ORDO:63260/specific"} +xref: ICD10CM:Q00.1 {source="Orphanet:63260/e", source="Orphanet:63260/specific", source="Orphanet:63260"} xref: ICD9:740.1 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10011321 {source="ORDO:63260/e", source="Orphanet:63260"} +xref: MedDRA:10011321 {source="Orphanet:63260/e", source="Orphanet:63260"} xref: NCIT:C98907 {source="MONDO:equivalentTo"} xref: Orphanet:63260 {source="MONDO:equivalentTo"} xref: SCTID:32219008 {source="MONDO:equivalentTo"} -xref: UMLS:C0152426 {source="MONDO:equivalentTo", source="NCIT:C98907", source="ORDO:63260/e", source="Orphanet:63260"} +xref: UMLS:C0152426 {source="Orphanet:63260/e", source="MONDO:equivalentTo", source="NCIT:C98907", source="Orphanet:63260"} is_a: MONDO:0002320 {source="NCIT:C98907", source="indirect"} ! congenital nervous system disorder is_a: MONDO:0017059 {source="Orphanet:63260"} ! neural tube closure defect property_value: IAO:0000589 "craniorachischisis (disease)" xsd:string @@ -363997,9 +363835,9 @@ synonym: "hypsicephaly" EXACT [Orphanet:63440] synonym: "hypsocephaly" EXACT [Orphanet:63440] synonym: "pyrgocephaly" EXACT [Orphanet:63440] synonym: "turricephaly" EXACT [Orphanet:63440] -xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="ORDO:63440/inclusion", source="ORDO:63440/ntbt", source="Orphanet:63440"} -xref: OMIM:123100 {source="MONDO:superClassOf", source="ORDO:63440/btnt", source="Orphanet:63440"} -xref: OMIM:616602 {source="MONDO:superClassOf", source="ORDO:63440/btnt", source="Orphanet:63440"} +xref: ICD10CM:Q75.0 {source="MONDO:subClassOf", source="Orphanet:63440/ntbt", source="Orphanet:63440/inclusion", source="Orphanet:63440"} +xref: OMIM:123100 {source="MONDO:superClassOf", source="Orphanet:63440/btnt", source="Orphanet:63440"} +xref: OMIM:616602 {source="MONDO:superClassOf", source="Orphanet:63440/btnt", source="Orphanet:63440"} xref: Orphanet:63440 {source="MONDO:equivalentTo"} xref: SCTID:48069004 {source="MONDO:equivalentTo"} xref: UMLS:C0030044 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:63440"} @@ -364020,7 +363858,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: MedDRA:10017758 {source="Orphanet:63443", source="ORDO:63443/e"} +consider: MedDRA:10017758 {source="Orphanet:63443", source="Orphanet:63443/e"} consider: UMLS:C0024623 {source="Orphanet:63443", source="MONDO:notFoundInDiseaseSubset"} [Term] @@ -364029,10 +363867,10 @@ name: patterned dystrophy of the retinal pigment epithelium subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:63454"} xref: GARD:0009821 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:63454", source="ORDO:63454/attributed", source="ORDO:63454/ntbt"} -xref: MESH:C536309 {source="Orphanet:63454", source="MONDO:equivalentTo", source="ORDO:63454/e"} +xref: ICD10CM:H35.5 {source="Orphanet:63454/attributed", source="Orphanet:63454/ntbt", source="MONDO:relatedTo", source="Orphanet:63454"} +xref: MESH:C536309 {source="Orphanet:63454", source="MONDO:equivalentTo", source="Orphanet:63454/e"} xref: Orphanet:63454 {source="MONDO:equivalentTo"} -xref: UMLS:C1868569 {source="Orphanet:63454", source="MONDO:equivalentTo", source="ORDO:63454/e"} +xref: UMLS:C1868569 {source="Orphanet:63454", source="MONDO:equivalentTo", source="Orphanet:63454/e"} is_a: MONDO:0020242 {source="Orphanet:63454"} ! genetic macular dystrophy [Term] @@ -364041,11 +363879,11 @@ name: paraneoplastic pemphigus def: "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare." [Orphanet:63455] subset: ordo_disease {source="Orphanet:63455"} xref: EFO:0008602 {source="MONDO:equivalentTo"} -xref: ICD10CM:L10.8 {source="Orphanet:63455", source="ORDO:63455/ntbt"} +xref: ICD10CM:L10.8 {source="Orphanet:63455", source="Orphanet:63455/ntbt"} xref: ICD10CM:L10.81 {source="MONDO:equivalentTo"} -xref: MedDRA:10057056 {source="ORDO:63455/e", source="Orphanet:63455"} +xref: MedDRA:10057056 {source="Orphanet:63455", source="Orphanet:63455/e"} xref: Orphanet:63455 {source="MONDO:equivalentTo"} -xref: UMLS:C1112570 {source="ORDO:63455/e", source="Orphanet:63455", source="MONDO:equivalentTo"} +xref: UMLS:C1112570 {source="Orphanet:63455", source="MONDO:equivalentTo", source="Orphanet:63455/e"} is_a: MONDO:0019337 {source="EFO:0008602/inferred", source="Orphanet:63455"} ! autoimmune bullous skin disease is_a: MONDO:0021073 {source="MONDO:cjm"} ! paraneoplastic syndrome @@ -364069,19 +363907,19 @@ synonym: "Von Recklinghausen disease" EXACT [NCIT:C3273, OMIM:162200, Orphanet:6 synonym: "von Reklinghausen disease" EXACT [DOID:8712] xref: DOID:0111253 {source="MONDO:equivalentTo"} xref: GARD:0007866 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q85.0 {source="Orphanet:636", source="ORDO:636/inclusion", source="ORDO:636/ntbt"} +xref: ICD10CM:Q85.0 {source="Orphanet:636/ntbt", source="Orphanet:636/inclusion", source="Orphanet:636"} xref: ICD9:237.71 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10047712 {source="ORDO:636/e", source="Orphanet:636"} -xref: MESH:C538607 {source="ORDO:636/e", source="MONDO:equivalentObsolete"} -xref: MESH:D009456 {source="DOID:8712", source="ORDO:636/e", source="Orphanet:636", source="MONDO:equivalentTo"} +xref: MedDRA:10047712 {source="Orphanet:636", source="Orphanet:636/e"} +xref: MESH:C538607 {source="MONDO:equivalentObsolete", source="Orphanet:636/e"} +xref: MESH:D009456 {source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo", source="Orphanet:636/e"} xref: NCIT:C3273 {source="DOID:8712", source="MONDO:equivalentTo"} -xref: OMIM:162200 {source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo", source="ORDO:636/btnt"} -xref: OMIM:162210 {source="DOID:8712", source="Orphanet:636", source="MONDO:superClassOf", source="ORDO:636/btnt"} -xref: OMIM:613675 {source="Orphanet:636", source="MONDO:superClassOf", source="ORDO:636/btnt"} +xref: OMIM:162200 {source="Orphanet:636/btnt", source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo"} +xref: OMIM:162210 {source="Orphanet:636/btnt", source="DOID:8712", source="Orphanet:636", source="MONDO:superClassOf"} +xref: OMIM:613675 {source="Orphanet:636/btnt", source="Orphanet:636", source="MONDO:superClassOf"} xref: Orphanet:363700 {source="MONDO:superClassOf", source="OMIM:162200"} xref: Orphanet:636 {source="MONDO:subClassOf", source="DOID:8712", source="MONDO:equivalentTo", source="OMIM:162200"} xref: SCTID:92824003 {source="MONDO:equivalentTo"} -xref: UMLS:C0027831 {source="DOID:8712", source="NCIT:C3273", source="ORDO:636/e", source="Orphanet:636", source="MONDO:equivalentTo", source="OMIM:162200"} +xref: UMLS:C0027831 {source="DOID:8712", source="NCIT:C3273", source="Orphanet:636", source="MONDO:equivalentTo", source="Orphanet:636/e", source="OMIM:162200"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0015512 {source="Orphanet:636"} ! genetic hypertension is_a: MONDO:0019755 ! developmental defect during embryogenesis @@ -364105,11 +363943,11 @@ subset: gard_rare {source="GARD:0000246"} subset: ordo_malformation_syndrome {source="Orphanet:63862"} synonym: "Midline development field defects" RELATED [GARD:0000246] xref: GARD:0000246 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:63862", source="ORDO:63862/ntbt"} -xref: MESH:C536633 {source="ORDO:63862/e", source="Orphanet:63862", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.8 {source="Orphanet:63862", source="Orphanet:63862/ntbt"} +xref: MESH:C536633 {source="Orphanet:63862", source="MONDO:equivalentTo", source="Orphanet:63862/e"} xref: Orphanet:63862 {source="MONDO:equivalentTo"} xref: SCTID:718095000 {source="MONDO:equivalentTo"} -xref: UMLS:C2931271 {source="ORDO:63862/e", source="Orphanet:63862", source="MONDO:equivalentTo"} +xref: UMLS:C2931271 {source="Orphanet:63862", source="MONDO:equivalentTo", source="Orphanet:63862/e"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/246/schisis-association xsd:anyURI {source="GARD:0000246"} @@ -364120,7 +363958,7 @@ def: "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MA subset: ordo_disease {source="Orphanet:639"} synonym: "anti-MAG neuropathy" EXACT [Orphanet:639] synonym: "neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein" EXACT [Orphanet:639] -xref: ICD10CM:G61.8 {source="ORDO:639/ntbt", source="Orphanet:639"} +xref: ICD10CM:G61.8 {source="Orphanet:639", source="Orphanet:639/ntbt"} xref: Orphanet:639 {source="MONDO:equivalentTo"} xref: UMLS:C1736154 {source="MONDO:equivalentTo", source="Orphanet:639"} is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder @@ -364136,12 +363974,12 @@ synonym: "idiopathic mediastinal fibrosis" RELATED [GARD:0008337] synonym: "mediastinal fibrosis" EXACT [Orphanet:63999] synonym: "sclerosing mediastinitis" EXACT [Orphanet:63999] xref: GARD:0008337 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:J98.5 {source="ORDO:63999/ntbt", source="Orphanet:63999"} -xref: MedDRA:10027074 {source="ORDO:63999/e", source="Orphanet:63999"} -xref: MESH:C536136 {source="ORDO:63999/e", source="MONDO:equivalentTo", source="Orphanet:63999"} +xref: ICD10CM:J98.5 {source="Orphanet:63999", source="Orphanet:63999/ntbt"} +xref: MedDRA:10027074 {source="Orphanet:63999", source="Orphanet:63999/e"} +xref: MESH:C536136 {source="MONDO:equivalentTo", source="Orphanet:63999", source="Orphanet:63999/e"} xref: Orphanet:63999 {source="MONDO:equivalentTo"} -xref: UMLS:C0221386 {source="ORDO:63999/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:63999"} -xref: UMLS:C0264573 {source="ORDO:63999/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:63999"} +xref: UMLS:C0221386 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:63999", source="Orphanet:63999/e"} +xref: UMLS:C0264573 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:63999", source="Orphanet:63999/e"} is_a: MONDO:0005087 {source="Orphanet:63999"} ! respiratory system disorder is_a: MONDO:0017287 {source="Orphanet:63999"} ! IgG4-related disease relationship: has_modifier MONDO:0021136 {source="MONDO:0020000"} ! rare @@ -364156,7 +363994,7 @@ synonym: "MMN" EXACT ABBREVIATION [Orphanet:641] synonym: "MMNCB" EXACT ABBREVIATION [Orphanet:641] synonym: "multifocal motor neuropathy with conduction block" EXACT [Orphanet:641] xref: GARD:0011011 {source="MONDO:equivalentTo"} -xref: ICD10CM:G61.8 {source="ORDO:641/ntbt", source="Orphanet:641"} +xref: ICD10CM:G61.8 {source="Orphanet:641/ntbt", source="Orphanet:641"} xref: ICD10CM:G61.82 {source="MONDO:equivalentTo"} xref: ICD9:357.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:641 {source="MONDO:equivalentTo"} @@ -364171,7 +364009,7 @@ name: acrofacial dysostosis, Kennedy-Teebi type def: "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." [Orphanet:64542] subset: ordo_malformation_syndrome {source="Orphanet:64542"} synonym: "Kennedy-Teebi syndrome" EXACT [Orphanet:64542] -xref: ICD10CM:Q75.4 {source="Orphanet:64542", source="ORDO:64542/attributed", source="ORDO:64542/ntbt"} +xref: ICD10CM:Q75.4 {source="Orphanet:64542", source="Orphanet:64542/attributed", source="Orphanet:64542/ntbt"} xref: Orphanet:64542 {source="MONDO:equivalentTo"} xref: SCTID:720427009 {source="MONDO:equivalentTo"} xref: UMLS:CN205418 {source="MONDO:equivalentTo"} @@ -364185,7 +364023,7 @@ def: "A rare neonatal epilepsy syndrome characterized by seizures without specif subset: ordo_disease {source="Orphanet:64545"} synonym: "benign nonfamilial neonatal seizures" EXACT [Orphanet:64545] synonym: "BINS" EXACT ABBREVIATION [Orphanet:64545] -xref: ICD10CM:G40.4 {source="Orphanet:64545", source="ORDO:64545/ntbt"} +xref: ICD10CM:G40.4 {source="Orphanet:64545/ntbt", source="Orphanet:64545"} xref: Orphanet:64545 {source="MONDO:equivalentTo"} xref: UMLS:CN205419 {source="MONDO:equivalentTo"} is_a: MONDO:0020070 {source="Orphanet:64545"} ! neonatal epilepsy syndrome @@ -364198,13 +364036,13 @@ name: Niemann-Pick disease type C def: "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." [PMID:21502308] subset: ordo_disease {source="Orphanet:646"} synonym: "NPC" BROAD ABBREVIATION [PMID:21502308] -xref: ICD10CM:E75.2 {source="Orphanet:646", source="ORDO:646/inclusion", source="ORDO:646/ntbt"} -xref: MESH:D052556 {source="ORDO:646/e", source="Orphanet:646", source="MONDO:equivalentTo"} -xref: OMIM:257220 {source="ORDO:646/e", source="Orphanet:646", source="MONDO:superClassOf"} -xref: OMIM:607625 {source="Orphanet:646", source="MONDO:superClassOf", source="ORDO:646/btnt"} +xref: ICD10CM:E75.2 {source="Orphanet:646/inclusion", source="Orphanet:646/ntbt", source="Orphanet:646"} +xref: MESH:D052556 {source="Orphanet:646", source="MONDO:equivalentTo", source="Orphanet:646/e"} +xref: OMIM:257220 {source="Orphanet:646", source="MONDO:superClassOf", source="Orphanet:646/e"} +xref: OMIM:607625 {source="Orphanet:646/btnt", source="Orphanet:646", source="MONDO:superClassOf"} xref: Orphanet:646 {source="MONDO:equivalentTo"} xref: SCTID:66751000 {source="MONDO:equivalentTo"} -xref: UMLS:C0220756 {source="ORDO:646/e", source="Orphanet:646", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0220756 {source="Orphanet:646", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:646/e"} is_a: MONDO:0001982 {source="MESH:D052556", source="MONDO:cjm", source="Orphanet:646", source="linkedlifedata"} ! Niemann-Pick disease relationship: excluded_subClassOf MONDO:0002561 {source="MESH:D052556/inferred", source="Orphanet:646/inferred", source="PMID:21723623", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease relationship: excluded_subClassOf MONDO:0017037 {source="Orphanet:646"} ! obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease @@ -364229,16 +364067,16 @@ synonym: "Tolosa Hunt syndrome" EXACT [GARD:0007777] synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278] xref: DOID:1278 {source="MONDO:equivalentTo"} xref: GARD:0007777 {source="MONDO:equivalentTo"} -xref: ICD10CM:H49.8 {source="Orphanet:64686", source="ORDO:64686/attributed", source="ORDO:64686/ntbt"} -xref: MedDRA:10051526 {source="Orphanet:64686", source="ORDO:64686/e"} -xref: MESH:C531833 {source="Orphanet:64686", source="ORDO:64686/e"} -xref: MESH:D020333 {source="Orphanet:64686", source="DOID:1278", source="MONDO:equivalentTo", source="ORDO:64686/e"} +xref: ICD10CM:H49.8 {source="Orphanet:64686/attributed", source="Orphanet:64686/ntbt", source="Orphanet:64686"} +xref: MedDRA:10051526 {source="Orphanet:64686", source="Orphanet:64686/e"} +xref: MESH:C531833 {source="Orphanet:64686", source="Orphanet:64686/e"} +xref: MESH:D020333 {source="Orphanet:64686", source="DOID:1278", source="MONDO:equivalentTo", source="Orphanet:64686/e"} xref: NCIT:C85193 {source="DOID:1278", source="MONDO:equivalentTo"} xref: Orphanet:64686 {source="MONDO:equivalentTo"} xref: SCTID:75111000 {source="DOID:1278"} xref: SCTID:95794005 {source="DOID:1278", source="MONDO:equivalentTo"} -xref: UMLS:C0040381 {source="Orphanet:64686", source="DOID:1278", source="NCIT:C85193", source="MONDO:equivalentTo", source="ORDO:64686/e"} -xref: UMLS:C0392060 {source="Orphanet:64686", source="MONDO:equivalentTo", source="ORDO:64686/e"} +xref: UMLS:C0040381 {source="Orphanet:64686", source="DOID:1278", source="NCIT:C85193", source="MONDO:equivalentTo", source="Orphanet:64686/e"} +xref: UMLS:C0392060 {source="Orphanet:64686", source="MONDO:equivalentTo", source="Orphanet:64686/e"} xref: UMLS:CN205421 {source="MONDO:equivalentTo"} is_a: MONDO:0001584 {source="DOID:1278", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular motility disease is_a: MONDO:0002254 {source="NCIT:C85193"} ! syndromic disease @@ -364260,14 +364098,14 @@ synonym: "Carrion's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MON synonym: "Carrión disease" EXACT [NCIT:C128441] synonym: "Oroya fever" EXACT [DOID:0050398] xref: DOID:0050398 {source="MONDO:equivalentTo"} -xref: ICD10CM:A44.0 {source="ORDO:64692/e", source="Orphanet:64692"} -xref: MESH:D001474 {source="MONDO:subClassOf", source="ORDO:64692/e", source="Orphanet:64692"} +xref: ICD10CM:A44.0 {source="Orphanet:64692/e", source="Orphanet:64692"} +xref: MESH:D001474 {source="MONDO:subClassOf", source="Orphanet:64692/e", source="Orphanet:64692"} xref: NCIT:C128441 {source="MONDO:equivalentTo"} xref: Orphanet:64692 {source="MONDO:equivalentTo"} xref: SCTID:240453002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:262461007 {source="MONDO:equivalentTo"} -xref: UMLS:C0029307 {source="NCIT:C128441", source="MONDO:equivalentTo", source="ORDO:64692/e", source="Orphanet:64692"} -xref: UMLS:C0348974 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:64692/e", source="Orphanet:64692"} +xref: UMLS:C0029307 {source="Orphanet:64692/e", source="NCIT:C128441", source="MONDO:equivalentTo", source="Orphanet:64692"} +xref: UMLS:C0348974 {source="Orphanet:64692/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64692"} xref: UMLS:CN205422 {source="MONDO:equivalentTo"} is_a: MONDO:0005113 {source="Orphanet:64692"} ! bacterial infectious disease is_a: MONDO:0005664 {source="DOID:0050398", source="MONDO:Redundant", source="NCIT:C128441", source="linkedlifedata", source="linkedlifedata/inferred"} ! bartonellosis @@ -364296,11 +364134,11 @@ synonym: "granulomatous lobular mastitis" RELATED [GARD:0013119] synonym: "idiopathic granulomatous lobular mastitis" RELATED [GARD:0013119] synonym: "idiopathic granulomatous mastitis" EXACT [Orphanet:64722] xref: GARD:0013119 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N61 {source="Orphanet:64722", source="ORDO:64722/ntbt"} -xref: MESH:D058890 {source="ORDO:64722/e", source="Orphanet:64722", source="MONDO:equivalentTo"} +xref: ICD10CM:N61 {source="Orphanet:64722/ntbt", source="Orphanet:64722"} +xref: MESH:D058890 {source="Orphanet:64722", source="MONDO:equivalentTo", source="Orphanet:64722/e"} xref: Orphanet:64722 {source="MONDO:equivalentTo"} xref: SCTID:237444008 {source="MONDO:equivalentTo"} -xref: UMLS:C0405469 {source="ORDO:64722/e", source="Orphanet:64722", source="MONDO:equivalentTo"} +xref: UMLS:C0405469 {source="Orphanet:64722", source="MONDO:equivalentTo", source="Orphanet:64722/e"} is_a: MONDO:0002263 {source="MONDO:0015858-obsoleted"} ! female reproductive system disorder [Term] @@ -364311,14 +364149,14 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:64734"} synonym: "ICE syndrome" EXACT [GARD:0000060, Orphanet:64734] xref: GARD:0000060 {source="MONDO:equivalentTo"} -xref: ICD10CM:H21.1 {source="Orphanet:64734", source="ORDO:64734/attributed", source="ORDO:64734/ntbt"} -xref: MedDRA:10053678 {source="ORDO:64734/e", source="Orphanet:64734"} -xref: MESH:D057129 {source="ORDO:64734/e", source="MONDO:equivalentTo", source="Orphanet:64734"} +xref: ICD10CM:H21.1 {source="Orphanet:64734", source="Orphanet:64734/attributed", source="Orphanet:64734/ntbt"} +xref: MedDRA:10053678 {source="Orphanet:64734", source="Orphanet:64734/e"} +xref: MESH:D057129 {source="MONDO:equivalentTo", source="Orphanet:64734", source="Orphanet:64734/e"} xref: NCIT:C84792 {source="MONDO:equivalentTo"} xref: Orphanet:64734 {source="MONDO:equivalentTo", source="GARD:0000060"} xref: SCTID:129623003 {source="MONDO:equivalentTo"} -xref: UMLS:C0339285 {source="ORDO:64734/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64734"} -xref: UMLS:C1096100 {source="ORDO:64734/e", source="MONDO:equivalentTo", source="Orphanet:64734", source="NCIT:C84792"} +xref: UMLS:C0339285 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64734", source="Orphanet:64734/e"} +xref: UMLS:C1096100 {source="MONDO:equivalentTo", source="Orphanet:64734", source="NCIT:C84792", source="Orphanet:64734/e"} xref: UMLS:CN205427 {source="MONDO:equivalentTo"} is_a: MONDO:0020215 {source="https://github.com/monarch-initiative/mondo/issues/2963", source="https://orcid.org/0000-0001-5493-2602"} ! syndromic corneal dystrophy relationship: disease_has_feature MONDO:0005041 {source="GARD:0000060-text", source="MONDO:cjm", source="Orphanet-text"} ! glaucoma @@ -364331,16 +364169,16 @@ id: MONDO:0018989 name: recurrent acute pancreatitis def: "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." [Orphanet:64740] subset: ordo_disease {source="Orphanet:64740"} -xref: ICD10CM:K85.0 {source="Orphanet:64740", source="ORDO:64740/ntbt"} -xref: ICD10CM:K85.1 {source="Orphanet:64740", source="ORDO:64740/ntbt"} -xref: ICD10CM:K85.2 {source="Orphanet:64740", source="ORDO:64740/ntbt"} -xref: ICD10CM:K85.3 {source="Orphanet:64740", source="ORDO:64740/ntbt"} -xref: ICD10CM:K85.8 {source="Orphanet:64740", source="ORDO:64740/ntbt"} -xref: ICD10CM:K85.9 {source="Orphanet:64740", source="ORDO:64740/ntbt"} -xref: MedDRA:10033657 {source="Orphanet:64740", source="ORDO:64740/e"} +xref: ICD10CM:K85.0 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: ICD10CM:K85.1 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: ICD10CM:K85.2 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: ICD10CM:K85.3 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: ICD10CM:K85.8 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: ICD10CM:K85.9 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: MedDRA:10033657 {source="Orphanet:64740", source="Orphanet:64740/e"} xref: Orphanet:64740 {source="MONDO:equivalentTo"} xref: SCTID:197458008 {source="MONDO:equivalentTo"} -xref: UMLS:C0267937 {source="Orphanet:64740", source="MONDO:equivalentTo", source="ORDO:64740/e"} +xref: UMLS:C0267937 {source="Orphanet:64740", source="MONDO:equivalentTo", source="Orphanet:64740/e"} is_a: MONDO:0002356 {source="Orphanet:64740"} ! pancreas disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015112"} ! rare @@ -364356,7 +364194,7 @@ name: hepatoportal sclerosis def: "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." [Orphanet:64743] subset: ordo_disease {source="Orphanet:64743"} synonym: "obliterative portal venopathy" EXACT [Orphanet:64743] -xref: ICD10CM:K74.1 {source="Orphanet:64743", source="ORDO:64743/ntbt"} +xref: ICD10CM:K74.1 {source="Orphanet:64743/ntbt", source="Orphanet:64743"} xref: Orphanet:64743 {source="MONDO:equivalentTo"} xref: SCTID:718096004 {source="MONDO:equivalentTo"} xref: UMLS:C4273756 {source="MONDO:equivalentTo"} @@ -364373,12 +364211,12 @@ synonym: "Riedel fibrosing thyroiditis" EXACT [DOID:14351] synonym: "Riedel thyroiditis" EXACT [NCIT:C35827, Orphanet:64744] synonym: "Riedel's fibrosing thyroiditis" EXACT [MONDO:0001948] xref: DOID:14351 {source="MONDO:equivalentTo"} -xref: ICD10CM:E06.5 {source="Orphanet:64744", source="ORDO:64744/ntbt"} -xref: MedDRA:10039142 {source="ORDO:64744/e", source="Orphanet:64744"} +xref: ICD10CM:E06.5 {source="Orphanet:64744/ntbt", source="Orphanet:64744"} +xref: MedDRA:10039142 {source="Orphanet:64744", source="Orphanet:64744/e"} xref: NCIT:C35827 {source="DOID:14351", source="MONDO:equivalentTo"} xref: Orphanet:64744 {source="MONDO:equivalentTo"} xref: SCTID:89024000 {source="MONDO:equivalentTo"} -xref: UMLS:C0154162 {source="NCIT:C35827", source="ORDO:64744/e", source="Orphanet:64744", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0154162 {source="NCIT:C35827", source="Orphanet:64744", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:64744/e"} xref: UMLS:C1335787 {source="MONDO:equivalentObsolete", source="DOID:14351"} is_a: MONDO:0004126 {source="DOID:14351", source="NCIT:C35827"} ! thyroiditis is_a: MONDO:0015777 {source="Orphanet:64744"} ! adult hypothyroidism @@ -364399,7 +364237,7 @@ synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [DOID:0050 synonym: "hereditary motor and sensory neuropathy type 2" EXACT [DOID:0050539, Orphanet:64746] xref: DOID:0050539 {source="MONDO:equivalentTo"} xref: GARD:0012431 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:64746/ntbt", source="Orphanet:64746", source="ORDO:64746/inclusion"} +xref: ICD10CM:G60.0 {source="Orphanet:64746/inclusion", source="Orphanet:64746", source="Orphanet:64746/ntbt"} xref: ICD9:356.0 {source="DOID:0050539"} xref: OMIM:118230 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:0050539"} xref: OMIM:604484 {source="MONDO:superClassOf", source="DOID:0050539", source="MONDO:directSiblingOf"} @@ -364427,7 +364265,7 @@ synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [Orphanet:64747] synonym: "X-linked hereditary motor and sensory neuropathy" EXACT [Orphanet:64747] xref: DOID:0050542 {source="MONDO:equivalentTo"} xref: GARD:0012444 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:64747/ntbt", source="Orphanet:64747", source="ORDO:64747/inclusion"} +xref: ICD10CM:G60.0 {source="Orphanet:64747/inclusion", source="Orphanet:64747", source="Orphanet:64747/ntbt"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:64747 {source="DOID:0050542", source="MONDO:equivalentTo"} xref: SCTID:230552007 {source="MONDO:equivalentTo"} @@ -364452,7 +364290,7 @@ synonym: "CMT4" EXACT ABBREVIATION [Orphanet:64749] synonym: "hereditary motor and sensory neuropathy" EXACT EXCLUDE [DOID:0050541] xref: DOID:0050541 {source="MONDO:equivalentTo"} xref: GARD:0012440 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:64749/ntbt", source="Orphanet:64749", source="ORDO:64749/inclusion"} +xref: ICD10CM:G60.0 {source="Orphanet:64749/inclusion", source="Orphanet:64749/ntbt", source="Orphanet:64749"} xref: Orphanet:64749 {source="DOID:0050541", source="MONDO:equivalentTo"} xref: SCTID:715795005 {source="MONDO:equivalentTo"} xref: UMLS:CN043578 {source="MONDO:equivalentTo"} @@ -364478,9 +364316,9 @@ synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical, O synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:606002] xref: DOID:0050755 {source="MONDO:equivalentTo"} xref: GARD:0012860 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.2 {source="Orphanet:64753", source="ORDO:64753/attributed", source="ORDO:64753/ntbt"} +xref: ICD10CM:G60.2 {source="Orphanet:64753", source="Orphanet:64753/attributed", source="Orphanet:64753/ntbt"} xref: MESH:C537308 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} -xref: OMIM:606002 {source="Orphanet:64753", source="MONDO:equivalentTo", source="ORDO:64753/btnt"} +xref: OMIM:606002 {source="Orphanet:64753", source="Orphanet:64753/btnt", source="MONDO:equivalentTo"} xref: Orphanet:64753 {source="MONDO:equivalentTo"} xref: SCTID:725408001 {source="MONDO:equivalentTo"} xref: UMLS:C1853761 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606002"} @@ -364505,29 +364343,29 @@ synonym: "Turner's phenotype, karyotype normal" EXACT [DOID:3490] synonym: "Ullrich-Noonan syndrome" RELATED [GARD:0010955] xref: DOID:3490 {source="MONDO:equivalentTo"} xref: GARD:0010955 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="Orphanet:648", source="ORDO:648/ntbt", source="DOID:3490", source="ORDO:648/inclusion"} +xref: ICD10CM:Q87.1 {source="Orphanet:648/inclusion", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10029748 {source="ORDO:648/e", source="Orphanet:648"} -xref: MESH:D009634 {source="ORDO:648/e", source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490"} +xref: MedDRA:10029748 {source="Orphanet:648", source="Orphanet:648/e"} +xref: MESH:D009634 {source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/e"} xref: NCIT:C34854 {source="MONDO:equivalentTo", source="DOID:3490"} xref: NCIT:C75459 {source="MONDO:superClassOf", source="DOID:3490"} -xref: OMIM:163950 {source="ORDO:648/e", source="MONDO:superClassOf", source="Orphanet:648"} -xref: OMIM:605275 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:609942 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:610733 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:611553 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:613224 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:613706 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:615355 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:616559 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} -xref: OMIM:616564 {source="MONDO:superClassOf", source="Orphanet:648", source="ORDO:648/btnt"} +xref: OMIM:163950 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/e"} +xref: OMIM:605275 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:609942 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:610733 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:611553 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:613224 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:613706 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:615355 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:616559 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} +xref: OMIM:616564 {source="MONDO:superClassOf", source="Orphanet:648", source="Orphanet:648/btnt"} xref: OMIMPS:163950 {source="MONDO:equivalentTo", source="DOID:3490"} xref: Orphanet:648 {source="MONDO:equivalentTo", source="DOID:3490"} xref: SCTID:205684007 {source="DOID:3490"} xref: SCTID:205794007 {source="DOID:3490"} xref: SCTID:205824006 {source="MONDO:equivalentTo", source="DOID:3490"} xref: SCTID:88327006 {source="DOID:3490"} -xref: UMLS:C0028326 {source="ORDO:648/e", source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="NCIT:C34854"} +xref: UMLS:C0028326 {source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="NCIT:C34854", source="Orphanet:648/e"} is_a: MONDO:0002254 {source="DOID:3490", source="MONDO:Redundant", source="NCIT:C34854", source="indirect"} ! syndromic disease is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder @@ -364560,32 +364398,32 @@ synonym: "Leber's congenital tapetoretinal dysplasia" RELATED [GARD:0000634] synonym: "Leber's disease" EXACT [DOID:14791] xref: DOID:14791 {source="MONDO:equivalentTo"} xref: GARD:0000634 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H35.5 {source="Orphanet:65", source="ORDO:65/ntbt", source="ORDO:65/index", source="MONDO:directSiblingOf"} -xref: MedDRA:10070667 {source="Orphanet:65", source="ORDO:65/e"} -xref: MESH:D057130 {source="Orphanet:65", source="ORDO:65/e", source="DOID:14791", source="MONDO:equivalentTo"} +xref: ICD10CM:H35.5 {source="Orphanet:65", source="Orphanet:65/index", source="Orphanet:65/ntbt", source="MONDO:directSiblingOf"} +xref: MedDRA:10070667 {source="Orphanet:65", source="Orphanet:65/e"} +xref: MESH:D057130 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e"} xref: NCIT:C129075 {source="MONDO:equivalentTo"} -xref: OMIM:179900 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:204000 {source="ORDO:65/e", source="MONDO:superClassOf"} -xref: OMIM:204100 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:604232 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:604393 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:604537 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:608553 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:610612 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:611755 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:612712 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:613341 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:613826 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:613829 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:613835 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:613837 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:613843 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:614186 {source="MONDO:superClassOf", source="ORDO:65/btnt"} -xref: OMIM:615360 {source="MONDO:superClassOf", source="ORDO:65/btnt"} +xref: OMIM:179900 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:204000 {source="Orphanet:65/e", source="MONDO:superClassOf"} +xref: OMIM:204100 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:604232 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:604393 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:604537 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:608553 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:610612 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:611755 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:612712 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:613341 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:613826 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:613829 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:613835 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:613837 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:613843 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:614186 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} +xref: OMIM:615360 {source="Orphanet:65/btnt", source="MONDO:superClassOf"} xref: OMIMPS:204000 {source="DOID:14791", source="MONDO:equivalentTo"} xref: Orphanet:65 {source="DOID:14791", source="MONDO:equivalentTo"} xref: SCTID:193413001 {source="DOID:14791", source="MONDO:equivalentTo"} -xref: UMLS:C0339527 {source="Orphanet:65", source="ORDO:65/e", source="DOID:14791", source="MONDO:equivalentTo", source="NCIT:C129075"} +xref: UMLS:C0339527 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e", source="NCIT:C129075"} is_a: MONDO:0005283 {source="DOID:14791", source="MESH:D057130", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disorder is_a: MONDO:0019118 {source="Orphanet:65", source="Orphanet:65/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy is_a: MONDO:0020210 {source="Orphanet:65"} ! syndromic hyperopia @@ -364601,9 +364439,9 @@ name: LCAT deficiency def: "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." [Orphanet:650] subset: ordo_disease {source="Orphanet:650"} synonym: "lecithin-cholesterol acyltransferase deficiency" EXACT [Orphanet:650] -xref: ICD10CM:E78.6 {source="ORDO:650/inclusion", source="ORDO:650/ntbt", source="Orphanet:650"} -xref: OMIM:136120 {source="ORDO:650/btnt", source="MONDO:superClassOf", source="Orphanet:650"} -xref: OMIM:245900 {source="ORDO:650/btnt", source="MONDO:superClassOf", source="Orphanet:650"} +xref: ICD10CM:E78.6 {source="Orphanet:650/ntbt", source="Orphanet:650/inclusion", source="Orphanet:650"} +xref: OMIM:136120 {source="MONDO:superClassOf", source="Orphanet:650/btnt", source="Orphanet:650"} +xref: OMIM:245900 {source="MONDO:superClassOf", source="Orphanet:650/btnt", source="Orphanet:650"} xref: Orphanet:650 {source="MONDO:equivalentTo"} xref: SCTID:49227001 {source="MONDO:equivalentTo"} xref: UMLS:C0023195 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:650"} @@ -364625,7 +364463,7 @@ synonym: "Tarlov cyst" EXACT [Orphanet:65250] synonym: "Tarlov cysts" RELATED [GARD:0009258] xref: EFO:1001858 {source="MONDO:equivalentTo"} xref: GARD:0009258 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G54.8 {source="ORDO:65250/ntbt", source="Orphanet:65250"} +xref: ICD10CM:G54.8 {source="Orphanet:65250/ntbt", source="Orphanet:65250"} xref: MESH:D052958 {source="MONDO:equivalentTo"} xref: Orphanet:65250 {source="MONDO:equivalentTo"} xref: SCTID:81634008 {source="MONDO:equivalentTo"} @@ -364649,13 +364487,13 @@ synonym: "dysplastic gangliocytoma of cerebellum" EXACT [NCIT:C8419] synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [Orphanet:65285] synonym: "LDD" EXACT ABBREVIATION [Orphanet:65285] xref: GARD:0006901 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.8 {source="ORDO:65285/attributed", source="ORDO:65285/ntbt", source="Orphanet:65285"} +xref: ICD10CM:Q04.8 {source="Orphanet:65285/attributed", source="Orphanet:65285/ntbt", source="Orphanet:65285"} xref: ICDO:9493/0 {source="NCIT:C8419"} xref: NCIT:C8419 {source="MONDO:equivalentTo"} -xref: OMIM:158350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:65285/ntbt", source="Orphanet:65285"} +xref: OMIM:158350 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:65285/ntbt", source="Orphanet:65285"} xref: Orphanet:65285 {source="MONDO:equivalentTo"} -xref: UMLS:C0391826 {source="MONDO:equivalentTo", source="ORDO:65285/e", source="NCIT:C8419", source="Orphanet:65285"} -xref: UMLS:C1266181 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:65285/e", source="Orphanet:65285"} +xref: UMLS:C0391826 {source="Orphanet:65285/e", source="MONDO:equivalentTo", source="NCIT:C8419", source="Orphanet:65285"} +xref: UMLS:C1266181 {source="Orphanet:65285/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:65285"} is_a: MONDO:0016729 {source="NCIT:C8419/inferred", source="Orphanet:65285"} ! mixed neuronal-glial tumor is_a: MONDO:0019117 {source="MONDO:Entailed", source="Orphanet:65285", source="Orphanet:65285/inferred"} ! genetic nervous system disorder is_a: MONDO:0020022 ! central nervous system malformation @@ -364671,14 +364509,14 @@ subset: ordo_disease {source="Orphanet:653"} synonym: "MEN2" EXACT ABBREVIATION [Orphanet:653] synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329] xref: GARD:0003830 {source="MONDO:equivalentTo"} -xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:653", source="ORDO:653/attributed", source="ORDO:653/ntbt"} +xref: ICD10CM:D44.8 {source="MONDO:subClassOf", source="Orphanet:653", source="Orphanet:653/attributed", source="Orphanet:653/ntbt"} xref: ICD9:194.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:258.02 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028191 {source="Orphanet:653", source="ORDO:653/e"} +xref: MedDRA:10028191 {source="Orphanet:653", source="Orphanet:653/e"} xref: NCIT:C123329 {source="MONDO:equivalentTo"} -xref: OMIM:155240 {source="Orphanet:653", source="MONDO:superClassOf", source="ORDO:653/btnt"} -xref: OMIM:162300 {source="Orphanet:653", source="MONDO:superClassOf", source="ORDO:653/btnt"} -xref: OMIM:171400 {source="Orphanet:653", source="MONDO:superClassOf", source="ORDO:653/btnt"} +xref: OMIM:155240 {source="Orphanet:653", source="Orphanet:653/btnt", source="MONDO:superClassOf"} +xref: OMIM:162300 {source="Orphanet:653", source="Orphanet:653/btnt", source="MONDO:superClassOf"} +xref: OMIM:171400 {source="Orphanet:653", source="Orphanet:653/btnt", source="MONDO:superClassOf"} xref: Orphanet:653 {source="MONDO:equivalentTo"} xref: SCTID:61808009 {source="MONDO:equivalentTo"} xref: UMLS:C0025268 {source="Orphanet:653", source="MONDO:superClassOf"} @@ -364713,21 +364551,21 @@ synonym: "Wilms' tumor of the kidney" EXACT [NCIT:C40407] xref: DOID:2154 {source="MONDO:equivalentTo"} xref: DOID:5176 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0007892 {source="MONDO:equivalentTo"} -xref: ICD10CM:C64 {source="Orphanet:654", source="ORDO:654/index", source="ORDO:654/ntbt"} +xref: ICD10CM:C64 {source="Orphanet:654", source="Orphanet:654/index", source="Orphanet:654/ntbt"} xref: ICDO:8960/3 {source="NCIT:C40407"} -xref: MedDRA:10029145 {source="Orphanet:654", source="ORDO:654/e"} -xref: MESH:D009396 {source="MONDO:subClassOf", source="Orphanet:654", source="MONDO:equivalentTo", source="ORDO:654/e"} +xref: MedDRA:10029145 {source="Orphanet:654", source="Orphanet:654/e"} +xref: MESH:D009396 {source="MONDO:subClassOf", source="Orphanet:654", source="MONDO:equivalentTo", source="Orphanet:654/e"} xref: NCIT:C40407 {source="MONDO:cjm", source="MONDO:equivalentTo"} -xref: OMIM:194070 {source="MONDO:superClassOf", source="ORDO:654/btnt"} -xref: OMIM:194071 {source="MONDO:superClassOf", source="ORDO:654/btnt"} -xref: OMIM:194090 {source="MONDO:superClassOf", source="ORDO:654/btnt"} -xref: OMIM:601363 {source="MONDO:superClassOf", source="ORDO:654/btnt"} -xref: OMIM:601583 {source="MONDO:superClassOf", source="ORDO:654/btnt"} -xref: OMIM:616806 {source="MONDO:superClassOf", source="ORDO:654/btnt"} +xref: OMIM:194070 {source="Orphanet:654/btnt", source="MONDO:superClassOf"} +xref: OMIM:194071 {source="Orphanet:654/btnt", source="MONDO:superClassOf"} +xref: OMIM:194090 {source="Orphanet:654/btnt", source="MONDO:superClassOf"} +xref: OMIM:601363 {source="Orphanet:654/btnt", source="MONDO:superClassOf"} +xref: OMIM:601583 {source="Orphanet:654/btnt", source="MONDO:superClassOf"} +xref: OMIM:616806 {source="Orphanet:654/btnt", source="MONDO:superClassOf"} xref: ONCOTREE:WT {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="MONDO:equivalentTo"} xref: SCTID:302849000 {source="MONDO:equivalentTo"} -xref: UMLS:C0027708 {source="Orphanet:654", source="NCIT:C40407", source="MONDO:equivalentTo", source="ORDO:654/e"} +xref: UMLS:C0027708 {source="Orphanet:654", source="NCIT:C40407", source="MONDO:equivalentTo", source="Orphanet:654/e"} xref: UMLS:CL343552 {source="MONDO:notFoundInDiseaseSubset", source="ONCOTREE:WT"} is_a: MONDO:0006058 {source="NCIT:C40407"} ! Wilms tumor is_a: MONDO:0006295 {source="DOID:2154/inferred", source="DOID:5176/inferred", source="MONDO:Redundant", source="NCIT:C40407/inferred"} ! malignant urinary system neoplasm @@ -364748,19 +364586,19 @@ synonym: "nephronophthisis (disease)" EXACT [https://orcid.org/0000-0002-6601-21 xref: DOID:12712 {source="MONDO:equivalentTo"} xref: GARD:0000206 {source="MONDO:equivalentTo"} xref: HP:0000090 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q61.5 {source="DOID:12712", source="Orphanet:655", source="ORDO:655/attributed", source="ORDO:655/ntbt"} +xref: ICD10CM:Q61.5 {source="Orphanet:655/attributed", source="Orphanet:655/ntbt", source="DOID:12712", source="Orphanet:655"} xref: NCIT:C123200 {source="DOID:12712", source="MONDO:equivalentTo"} -xref: OMIM:256100 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/e"} -xref: OMIM:602088 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:604387 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:606966 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:611498 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:613159 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:613820 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:613824 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:614377 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:615382 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} -xref: OMIM:615862 {source="Orphanet:655", source="MONDO:superClassOf", source="ORDO:655/btnt"} +xref: OMIM:256100 {source="Orphanet:655", source="MONDO:superClassOf", source="Orphanet:655/e"} +xref: OMIM:602088 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:604387 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:606966 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:611498 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:613159 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:613820 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:613824 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:614377 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:615382 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} +xref: OMIM:615862 {source="Orphanet:655/btnt", source="Orphanet:655", source="MONDO:superClassOf"} xref: OMIMPS:256100 {source="DOID:12712", source="MONDO:equivalentTo"} xref: Orphanet:655 {source="DOID:12712", source="MONDO:equivalentTo", source="GARD:0000206"} xref: SCTID:204958008 {source="DOID:12712"} @@ -364780,27 +364618,27 @@ name: familial idiopathic steroid-resistant nephrotic syndrome def: "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." [Orphanet:656] subset: ordo_disease {source="Orphanet:656"} synonym: "familial idiopathic nephrotic syndrome" EXACT [Orphanet:656] -xref: ICD10CM:N04.1 {source="Orphanet:656", source="ORDO:656/attributed", source="ORDO:656/btnt"} -xref: ICD10CM:N04.3 {source="Orphanet:656", source="ORDO:656/attributed", source="ORDO:656/btnt"} -xref: ICD10CM:N04.8 {source="Orphanet:656", source="ORDO:656/attributed", source="ORDO:656/btnt"} -xref: OMIM:256370 {source="ORDO:656/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:600995 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:603278 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:603965 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:607832 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:610725 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:613237 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:614131 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:614196 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:615244 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:615573 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:615861 {source="MONDO:superClassOf", source="ORDO:656/ntbt"} -xref: OMIM:616002 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:616032 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:616220 {source="MONDO:relatedTo", source="ORDO:656/btnt"} -xref: OMIM:616730 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:616892 {source="MONDO:superClassOf", source="ORDO:656/btnt"} -xref: OMIM:616893 {source="MONDO:superClassOf", source="ORDO:656/btnt"} +xref: ICD10CM:N04.1 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} +xref: ICD10CM:N04.3 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} +xref: ICD10CM:N04.8 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} +xref: OMIM:256370 {source="Orphanet:656/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:600995 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:603278 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:603965 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:607832 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:610725 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:613237 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:614131 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:614196 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:615244 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:615573 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:615861 {source="Orphanet:656/ntbt", source="MONDO:superClassOf"} +xref: OMIM:616002 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:616032 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:616220 {source="MONDO:relatedTo", source="Orphanet:656/btnt"} +xref: OMIM:616730 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:616892 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} +xref: OMIM:616893 {source="Orphanet:656/btnt", source="MONDO:superClassOf"} xref: Orphanet:656 {source="MONDO:equivalentTo"} xref: SCTID:718141008 {source="MONDO:equivalentTo"} xref: UMLS:C1868672 {source="Orphanet:656", source="MONDO:equivalentTo"} @@ -364816,10 +364654,10 @@ id: MONDO:0019007 name: vaginal atresia subset: ordo_morphological_anomaly {source="Orphanet:65681"} xref: HP:0000148 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q52.0 {source="ORDO:65681/ntbt", source="Orphanet:65681"} -xref: MedDRA:10046879 {source="ORDO:65681/e", source="Orphanet:65681"} +xref: ICD10CM:Q52.0 {source="Orphanet:65681/ntbt", source="Orphanet:65681"} +xref: MedDRA:10046879 {source="Orphanet:65681/e", source="Orphanet:65681"} xref: Orphanet:65681 {source="MONDO:equivalentTo"} -xref: UMLS:C1321884 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:65681/e", source="Orphanet:65681"} +xref: UMLS:C1321884 {source="Orphanet:65681/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:65681"} is_a: MONDO:0002263 {source="MONDO:0015847-obsoleted"} ! female reproductive system disorder is_a: MONDO:0015932 {source="MONDO:0015847-obsoleted"} ! non-syndromic urogenital tract malformation of female is_a: MONDO:0021124 {source="MONDO:0015847-obsoleted"} ! female infertility @@ -364835,13 +364673,13 @@ synonym: "cholestasis, benign recurrent intrahepatic" EXACT [OMIMPS:243300] synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [Orphanet:65682] xref: DOID:0070230 {source="MONDO:equivalentTo"} xref: GARD:0012185 {source="MONDO:equivalentTo"} -xref: ICD10CM:K83.1 {source="ORDO:65682/attributed", source="ORDO:65682/ntbt", source="Orphanet:65682"} -xref: OMIM:243300 {source="ORDO:65682/btnt", source="MONDO:superClassOf", source="Orphanet:65682"} -xref: OMIM:605479 {source="ORDO:65682/btnt", source="MONDO:superClassOf", source="Orphanet:65682"} +xref: ICD10CM:K83.1 {source="Orphanet:65682/attributed", source="Orphanet:65682/ntbt", source="Orphanet:65682"} +xref: OMIM:243300 {source="MONDO:superClassOf", source="Orphanet:65682/btnt", source="Orphanet:65682"} +xref: OMIM:605479 {source="MONDO:superClassOf", source="Orphanet:65682/btnt", source="Orphanet:65682"} xref: OMIMPS:243300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:65682 {source="MONDO:equivalentTo"} xref: SCTID:31155007 {source="MONDO:equivalentTo"} -xref: UMLS:C0149841 {source="MONDO:equivalentTo", source="ORDO:65682/e", source="Orphanet:65682"} +xref: UMLS:C0149841 {source="Orphanet:65682/e", source="MONDO:equivalentTo", source="Orphanet:65682"} is_a: MONDO:0017290 {source="MONDO:Redundant", source="Orphanet:65682"} ! familial intrahepatic cholestasis is_a: MONDO:0017755 {source="Orphanet:65682"} ! inborn disorder of bilirubin metabolism is_a: MONDO:0019072 {source="MONDO:Redundant", source="indirect"} ! intrahepatic cholestasis @@ -364855,8 +364693,8 @@ name: isolated focal cortical dysplasia def: "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." [Orphanet:65683] subset: ordo_disease {source="Orphanet:65683"} synonym: "epilepsy due to FCD" EXACT [Orphanet:65683] -xref: ICD10CM:Q04.8 {source="ORDO:65683/attributed", source="ORDO:65683/ntbt", source="Orphanet:65683"} -xref: OMIM:607341 {source="ORDO:65683/btnt", source="MONDO:superClassOf", source="Orphanet:65683"} +xref: ICD10CM:Q04.8 {source="Orphanet:65683/attributed", source="Orphanet:65683/ntbt", source="Orphanet:65683"} +xref: OMIM:607341 {source="Orphanet:65683/btnt", source="MONDO:superClassOf", source="Orphanet:65683"} xref: Orphanet:65683 {source="MONDO:equivalentTo"} xref: SCTID:766710005 {source="MONDO:equivalentTo"} xref: UMLS:C1846385 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:65683"} @@ -364879,12 +364717,12 @@ synonym: "hypoglycemia hyperinsulinemic of infancy" RELATED [GARD:0003947] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [Orphanet:657] synonym: "PHHI" EXACT ABBREVIATION [Orphanet:657] xref: GARD:0003947 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E16.1 {source="Orphanet:657", source="ORDO:657/attributed", source="ORDO:657/ntbt"} -xref: MESH:D044903 {source="ORDO:657/e", source="Orphanet:657"} +xref: ICD10CM:E16.1 {source="Orphanet:657/attributed", source="Orphanet:657/ntbt", source="Orphanet:657"} +xref: MESH:D044903 {source="Orphanet:657", source="Orphanet:657/e"} xref: NCIT:C122923 {source="MONDO:equivalentTo"} xref: Orphanet:657 {source="MONDO:equivalentTo"} xref: UMLS:C0027773 {source="Orphanet:657", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1257959 {source="ORDO:657/e", source="Orphanet:657", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1257959 {source="Orphanet:657", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:657/e"} xref: UMLS:C3888018 {source="NCIT:C122923", source="Orphanet:657", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0007834 {source="NCIT:C122923"} ! islet cell adenomatosis is_a: MONDO:0017182 {source="Orphanet:657"} ! familial hyperinsulinism @@ -364903,7 +364741,7 @@ synonym: "CMT1" EXACT ABBREVIATION [Orphanet:65753] synonym: "hereditary motor and sensory neuropathy type 1" EXACT [DOID:0050538, Orphanet:65753] xref: DOID:0050538 {source="MONDO:equivalentTo"} xref: GARD:0012433 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="Orphanet:65753", source="ORDO:65753/inclusion", source="ORDO:65753/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:65753/ntbt", source="Orphanet:65753", source="Orphanet:65753/inclusion"} xref: Orphanet:65753 {source="MONDO:equivalentTo"} xref: SCTID:398040009 {source="MONDO:equivalentTo"} xref: UMLS:C0751036 {source="Orphanet:65753", source="MONDO:notFoundInDiseaseSubset"} @@ -364923,18 +364761,18 @@ synonym: "Carpenter syndrome" EXACT [NCIT:C98873] synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873] xref: DOID:0060234 {source="MONDO:equivalentTo"} xref: GARD:0006003 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:65759/index", source="ORDO:65759/ntbt", source="Orphanet:65759"} +xref: ICD10CM:Q87.0 {source="Orphanet:65759", source="Orphanet:65759/index", source="Orphanet:65759/ntbt"} xref: MESH:C563187 {source="DOID:0060234"} xref: NCIT:C98873 {source="DOID:0060234", source="MONDO:equivalentTo"} -xref: OMIM:201000 {source="DOID:0060234", source="MONDO:superClassOf", source="ORDO:65759/btnt", source="Orphanet:65759"} -xref: OMIM:614976 {source="DOID:0060234", source="MONDO:superClassOf", source="ORDO:65759/btnt", source="Orphanet:65759"} +xref: OMIM:201000 {source="DOID:0060234", source="MONDO:superClassOf", source="Orphanet:65759", source="Orphanet:65759/btnt"} +xref: OMIM:614976 {source="DOID:0060234", source="MONDO:superClassOf", source="Orphanet:65759", source="Orphanet:65759/btnt"} xref: OMIMPS:201000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:65759 {source="DOID:0060234", source="MONDO:equivalentTo"} xref: SCTID:205813009 {source="DOID:0060234", source="MONDO:superClassOf"} xref: SCTID:403767009 {source="DOID:0060234", source="MONDO:equivalentTo"} xref: SCTID:74263009 {source="DOID:0060234"} xref: SCTID:83728000 {source="MONDO:relatedTo", source="DOID:0060234"} -xref: UMLS:C1275078 {source="ORDO:65759/e", source="DOID:0060234", source="MONDO:equivalentTo", source="Orphanet:65759"} +xref: UMLS:C1275078 {source="DOID:0060234", source="MONDO:equivalentTo", source="Orphanet:65759", source="Orphanet:65759/e"} xref: UMLS:CN229565 {source="MONDO:equivalentTo"} is_a: MONDO:0000078 {source="Wikipedia:Carpenter_syndrome", source="linkedlifedata"} ! acrocephalopolysyndactyly is_a: MONDO:0015160 {source="Orphanet:65759", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -364982,13 +364820,13 @@ synonym: "omphalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "omphalocoele" EXACT [DOID:0060327] xref: DOID:0060327 {source="MONDO:equivalentTo"} xref: HP:0001539 {source="MONDO:otherHierarchy", source="DOID:0060327"} -xref: ICD10CM:Q79.2 {source="ORDO:660/ntbt", source="DOID:0060327", source="Orphanet:660"} +xref: ICD10CM:Q79.2 {source="DOID:0060327", source="Orphanet:660/ntbt", source="Orphanet:660"} xref: ICD9:756.72 {source="DOID:0060327"} -xref: MedDRA:10030308 {source="ORDO:660/e", source="Orphanet:660"} +xref: MedDRA:10030308 {source="Orphanet:660/e", source="Orphanet:660"} xref: MESH:D006554 {source="MONDO:relatedTo", source="DOID:0060327"} xref: NCIT:C98997 {source="MONDO:equivalentTo", source="DOID:0060327"} -xref: OMIM:164750 {source="ORDO:660/btnt", source="MONDO:superClassOf", source="DOID:0060327", source="Orphanet:660"} -xref: OMIM:310980 {source="ORDO:660/btnt", source="MONDO:superClassOf", source="Orphanet:660"} +xref: OMIM:164750 {source="MONDO:superClassOf", source="DOID:0060327", source="Orphanet:660/btnt", source="Orphanet:660"} +xref: OMIM:310980 {source="MONDO:superClassOf", source="Orphanet:660/btnt", source="Orphanet:660"} xref: Orphanet:660 {source="MONDO:equivalentTo"} xref: SCTID:157007005 {source="DOID:0060327"} xref: SCTID:18735004 {source="MONDO:equivalentTo", source="DOID:0060327"} @@ -364999,7 +364837,7 @@ xref: SCTID:271017007 {source="DOID:0060327"} xref: SCTID:396347007 {source="MONDO:relatedTo", source="DOID:0060327"} xref: SCTID:49324006 {source="DOID:0060327"} xref: SCTID:5867007 {source="DOID:0060327"} -xref: UMLS:C0795690 {source="MONDO:equivalentTo", source="DOID:0060327", source="ORDO:660/e", source="Orphanet:660", source="NCIT:C98997"} +xref: UMLS:C0795690 {source="Orphanet:660/e", source="MONDO:equivalentTo", source="DOID:0060327", source="Orphanet:660", source="NCIT:C98997"} xref: UMLS:C1306503 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060327"} is_a: MONDO:0015215 {source="Orphanet:660"} ! non-syndromic diaphragmatic or abdominal wall malformation property_value: IAO:0000589 "omphalocele (disease)" xsd:string @@ -365010,7 +364848,7 @@ name: maternally-inherited progressive external ophthalmoplegia subset: ordo_disease {source="Orphanet:663"} synonym: "maternally-inherited chronic progressive external ophthalmoplegia" EXACT [Orphanet:663] synonym: "maternally-inherited CPEO" EXACT [Orphanet:663] -xref: ICD10CM:H49.4 {source="ORDO:663/specific", source="MONDO:directSiblingOf", source="ORDO:663/e", source="Orphanet:663"} +xref: ICD10CM:H49.4 {source="Orphanet:663/specific", source="Orphanet:663/e", source="MONDO:directSiblingOf", source="Orphanet:663"} xref: Orphanet:663 {source="MONDO:equivalentTo"} xref: UMLS:C0162674 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:663"} xref: UMLS:CN924917 {source="MONDO:equivalentTo"} @@ -365025,7 +364863,7 @@ id: MONDO:0019017 name: short fifth metacarpals-insulin resistance syndrome def: "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." [Orphanet:66518] subset: ordo_disease {source="Orphanet:66518"} -xref: ICD10CM:E13 {source="ORDO:66518/attributed", source="ORDO:66518/ntbt", source="Orphanet:66518"} +xref: ICD10CM:E13 {source="Orphanet:66518", source="Orphanet:66518/attributed", source="Orphanet:66518/ntbt"} xref: Orphanet:66518 {source="MONDO:equivalentTo"} xref: UMLS:CN205478 {source="MONDO:equivalentTo"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus @@ -365053,7 +364891,7 @@ synonym: "transient antero-apical dyskinesia" RELATED [GARD:0009400] synonym: "transient left ventricular apical ballooning syndrome" EXACT [Orphanet:66529] xref: EFO:1002000 {source="MONDO:equivalentTo"} xref: GARD:0009400 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I42.8 {source="ORDO:66529/ntbt", source="Orphanet:66529"} +xref: ICD10CM:I42.8 {source="Orphanet:66529", source="Orphanet:66529/ntbt"} xref: ICD9:429.83 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D054549 {source="MONDO:equivalentTo"} xref: NCIT:C85181 {source="MONDO:equivalentTo"} @@ -365082,30 +364920,30 @@ synonym: "Vrolik disease" RELATED [GARD:0001017] synonym: "Vrolik's disease" EXACT [DOID:12347] xref: DOID:12347 {source="MONDO:equivalentTo"} xref: GARD:0001017 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="ORDO:666/specific", source="ORDO:666/e"} +xref: ICD10CM:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="Orphanet:666/specific"} xref: ICD9:756.51 {source="DOID:12347", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10031243 {source="Orphanet:666", source="ORDO:666/e"} -xref: MESH:D010013 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="ORDO:666/e"} +xref: MedDRA:10031243 {source="Orphanet:666", source="Orphanet:666/e"} +xref: MESH:D010013 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e"} xref: NCIT:C26837 {source="DOID:12347", source="MONDO:equivalentTo"} xref: NCIT:C99003 {source="DOID:12347", source="MONDO:superClassOf"} -xref: OMIM:166200 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:166210 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:166220 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:166230 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:259420 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:259440 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:610682 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:610915 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:610967 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:610968 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:613848 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:613849 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:613982 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:614856 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:615066 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:615220 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:616229 {source="MONDO:superClassOf", source="ORDO:666/btnt"} -xref: OMIM:616507 {source="MONDO:superClassOf", source="ORDO:666/btnt"} +xref: OMIM:166200 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:166210 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:166220 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:166230 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:259420 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:259440 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:610682 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:610915 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:610967 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:610968 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:613848 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:613849 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:613982 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:614856 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:615066 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:615220 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:616229 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} +xref: OMIM:616507 {source="Orphanet:666/btnt", source="MONDO:superClassOf"} xref: OMIMPS:166200 {source="DOID:12347", source="MONDO:equivalentTo"} xref: Orphanet:666 {source="DOID:12347", source="MONDO:equivalentTo"} xref: SCTID:157008000 {source="DOID:12347"} @@ -365123,7 +364961,7 @@ xref: SCTID:3508009 {source="DOID:12347"} xref: SCTID:385482004 {source="DOID:12347", source="MONDO:superClassOf"} xref: SCTID:78314001 {source="DOID:12347", source="MONDO:equivalentTo"} xref: UMLS:C0023931 {source="DOID:12347", source="Orphanet:666", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0029434 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="ORDO:666/e", source="NCIT:C26837"} +xref: UMLS:C0029434 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="NCIT:C26837"} xref: UMLS:C0268360 {source="Orphanet:666", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1859069 {source="Orphanet:666", source="MONDO:superClassOf"} is_a: MONDO:0005516 {source="DOID:12347", source="MESH:D010013"} ! osteochondrodysplasia @@ -365182,16 +365020,16 @@ xref: DOID:3663 {source="MONDO:equivalentTo"} xref: EFO:1000886 {source="MONDO:equivalentTo"} xref: GARD:0007842 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0200151 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:66646/e", source="Orphanet:66646"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:66646", source="Orphanet:66646/e"} xref: ICDO:9740/1 {source="NCIT:C7137"} -xref: MESH:D034701 {source="ORDO:66646/e", source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo"} +xref: MESH:D034701 {source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="Orphanet:66646/e"} xref: NCIT:C7137 {source="DOID:3663", source="MONDO:equivalentTo", source="exact-label-match"} xref: OMIM:154800 {source="MONDO:equivalentTo"} xref: ONCOTREE:CMCD {source="MONDO:equivalentTo"} xref: Orphanet:66646 {source="MONDO:equivalentTo"} xref: SCTID:397012002 {source="DOID:3663", source="MONDO:equivalentTo"} xref: SCTID:703827008 {source="DOID:3663"} -xref: UMLS:C1136033 {source="ORDO:66646/e", source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="NCIT:C7137"} +xref: UMLS:C1136033 {source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="NCIT:C7137", source="Orphanet:66646/e"} is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C7137"} ! dermis tumor is_a: MONDO:0005492 {source="Orphanet:66646"} ! urticaria is_a: MONDO:0007950 {source="DOID:3663", source="MESH:D034701", source="NCIT:C7137", source="ONCOTREE:CMCD", source="Orphanet:66646"} ! mastocytosis @@ -365210,10 +365048,10 @@ synonym: "MCSL" RELATED ABBREVIATION [ONCOTREE:MCSL] synonym: "sarcoma of mast cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:355 {source="MONDO:equivalentTo"} xref: EFO:1000364 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.2 {source="ORDO:66661/ntbt", source="Orphanet:66661", source="DOID:355"} +xref: ICD10CM:C96.2 {source="Orphanet:66661/ntbt", source="Orphanet:66661", source="DOID:355"} xref: ICD9:202.6 {source="DOID:355"} xref: ICDO:9740/3 {source="NCIT:C9348"} -xref: MESH:D012515 {source="MONDO:equivalentTo", source="ORDO:66661/e", source="Orphanet:66661", source="DOID:355"} +xref: MESH:D012515 {source="Orphanet:66661/e", source="MONDO:equivalentTo", source="Orphanet:66661", source="DOID:355"} xref: NCIT:C9348 {source="MONDO:0021036", source="EFO:1000364", source="MONDO:equivalentTo", source="DOID:355"} xref: ONCOTREE:MCSL {source="MONDO:equivalentTo"} xref: Orphanet:66661 {source="MONDO:equivalentTo"} @@ -365224,7 +365062,7 @@ xref: SCTID:188661000 {source="DOID:355"} xref: SCTID:188670002 {source="DOID:355"} xref: SCTID:307591004 {source="DOID:355"} xref: SCTID:397010005 {source="DOID:355"} -xref: UMLS:C0036221 {source="MONDO:equivalentTo", source="NCIT:C9348", source="ORDO:66661/e", source="Orphanet:66661", source="DOID:355"} +xref: UMLS:C0036221 {source="Orphanet:66661/e", source="MONDO:equivalentTo", source="NCIT:C9348", source="Orphanet:66661", source="DOID:355"} is_a: MONDO:0005089 {source="DOID:355", source="EFO:1000364", source="MONDO:Redundant", source="linkedlifedata"} ! sarcoma is_a: MONDO:0007950 {source="MESH:D012515", source="NCIT:C9348/inferred", source="ONCOTREE:MCSL", source="Orphanet:66661"} ! mastocytosis intersection_of: MONDO:0005089 ! sarcoma @@ -365238,13 +365076,13 @@ subset: ordo_disease {source="Orphanet:66662"} synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, NCIT:C7136] xref: DOID:4659 {source="MONDO:equivalentTo", source="EFO:1000932"} xref: EFO:1000932 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.2 {source="ORDO:66662/ntbt", source="Orphanet:66662"} +xref: ICD10CM:C96.2 {source="Orphanet:66662/ntbt", source="Orphanet:66662"} xref: ICDO:9740/1 {source="NCIT:C7136"} xref: MESH:D034801 {source="DOID:4659", source="EFO:1000932"} xref: NCIT:C7136 {source="MONDO:equivalentTo", source="DOID:4659", source="exact-label-match", source="EFO:1000932"} xref: Orphanet:66662 {source="MONDO:equivalentTo"} xref: SCTID:63175003 {source="MONDO:equivalentTo", source="DOID:4659", source="EFO:1000932"} -xref: UMLS:C0272202 {source="NCIT:C7136", source="MONDO:equivalentTo", source="DOID:4659", source="ORDO:66662/e", source="Orphanet:66662"} +xref: UMLS:C0272202 {source="NCIT:C7136", source="Orphanet:66662/e", source="MONDO:equivalentTo", source="DOID:4659", source="Orphanet:66662"} is_a: MONDO:0002724 {source="DOID:4659", source="MONDO:Redundant", source="NCIT:C7136/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mast cell neoplasm is_a: MONDO:0003079 {source="NCIT:C7136", source="linkedlifedata"} ! mastocytoma is_a: MONDO:0016586 {source="DOID:4659"} ! systemic mastocytosis @@ -365261,16 +365099,16 @@ synonym: "infantile malignant osteopetrosis" EXACT [Orphanet:667] synonym: "malignant osteopetrosis" RELATED [NCIT:C129733] synonym: "OPTB" EXACT ABBREVIATION [] synonym: "osteopetrosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:Q78.2 {source="Orphanet:667", source="ORDO:667/attributed", source="ORDO:667/ntbt"} +xref: ICD10CM:Q78.2 {source="Orphanet:667", source="Orphanet:667/attributed", source="Orphanet:667/ntbt"} xref: NCIT:C129733 {source="MONDO:equivalentTo"} -xref: OMIM:259700 {source="Orphanet:667", source="MONDO:superClassOf", source="ORDO:667/btnt"} -xref: OMIM:259710 {source="Orphanet:667", source="MONDO:superClassOf", source="ORDO:667/btnt"} -xref: OMIM:611490 {source="Orphanet:667", source="MONDO:superClassOf", source="ORDO:667/btnt"} -xref: OMIM:615085 {source="Orphanet:667", source="MONDO:superClassOf", source="ORDO:667/btnt"} +xref: OMIM:259700 {source="Orphanet:667", source="Orphanet:667/btnt", source="MONDO:superClassOf"} +xref: OMIM:259710 {source="Orphanet:667", source="Orphanet:667/btnt", source="MONDO:superClassOf"} +xref: OMIM:611490 {source="Orphanet:667", source="Orphanet:667/btnt", source="MONDO:superClassOf"} +xref: OMIM:615085 {source="Orphanet:667", source="Orphanet:667/btnt", source="MONDO:superClassOf"} xref: OMIMPS:259700 {source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:equivalentTo"} xref: SCTID:367489004 {source="MONDO:equivalentTo"} -xref: UMLS:C1318518 {source="ORDO:667/e", source="Orphanet:667", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1318518 {source="Orphanet:667", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:667/e"} is_a: MONDO:0017198 {source="NCIT:C129733", source="Orphanet:667", source="linkedlifedata"} ! osteopetrosis is_a: MONDO:0020249 {source="Orphanet:667", source="Orphanet:667/inferred"} ! hereditary optic neuropathy intersection_of: MONDO:0017198 ! osteopetrosis @@ -365288,9 +365126,9 @@ synonym: "oto-palato-digital syndrome" EXACT [] synonym: "Taybi syndrome" EXACT [Orphanet:669] synonym: "type 2 (Andre syndrome)" NARROW [GARD:0007293] xref: GARD:0007293 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:669", source="ORDO:669/ntbt", source="ORDO:669/index"} -xref: OMIM:304120 {source="Orphanet:669", source="MONDO:superClassOf", source="ORDO:669/btnt"} -xref: OMIM:311300 {source="Orphanet:669", source="MONDO:superClassOf", source="ORDO:669/btnt"} +xref: ICD10CM:Q87.0 {source="Orphanet:669/ntbt", source="Orphanet:669", source="Orphanet:669/index"} +xref: OMIM:304120 {source="Orphanet:669/btnt", source="Orphanet:669", source="MONDO:superClassOf"} +xref: OMIM:311300 {source="Orphanet:669/btnt", source="Orphanet:669", source="MONDO:superClassOf"} xref: Orphanet:669 {source="MONDO:equivalentTo"} xref: SCTID:767130007 {source="MONDO:equivalentTo"} xref: UMLS:CN205496 {source="MONDO:equivalentTo"} @@ -365307,19 +365145,19 @@ id: MONDO:0019028 name: amoebiasis due to Entamoeba histolytica def: "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." [Orphanet:67] subset: ordo_disease {source="Orphanet:67"} -xref: ICD10CM:A06.0 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.1 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.2 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.3 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.4 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.5 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.6 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.7 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.8 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: ICD10CM:A06.9 {source="Orphanet:67", source="ORDO:67/btnt"} -xref: MESH:C531613 {source="Orphanet:67", source="ORDO:67/e", source="MONDO:equivalentTo"} +xref: ICD10CM:A06.0 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.1 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.2 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.3 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.4 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.5 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.6 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.7 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.8 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: ICD10CM:A06.9 {source="Orphanet:67", source="Orphanet:67/btnt"} +xref: MESH:C531613 {source="Orphanet:67", source="MONDO:equivalentTo", source="Orphanet:67/e"} xref: Orphanet:67 {source="MONDO:equivalentTo"} -xref: UMLS:C2930799 {source="Orphanet:67", source="ORDO:67/e", source="MONDO:equivalentTo"} +xref: UMLS:C2930799 {source="Orphanet:67", source="MONDO:equivalentTo", source="Orphanet:67/e"} is_a: MONDO:0005135 {source="Orphanet:67"} ! parasitic infectious disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare @@ -365329,7 +365167,7 @@ name: segmental odontomaxillary dysplasia def: "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." [Orphanet:67039] subset: ordo_disease {source="Orphanet:67039"} synonym: "SOD" EXACT ABBREVIATION [Orphanet:67039] -xref: ICD10CM:K00.4 {source="Orphanet:67039", source="ORDO:67039/ntbt"} +xref: ICD10CM:K00.4 {source="Orphanet:67039", source="Orphanet:67039/ntbt"} xref: ICD9:524.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:67039 {source="MONDO:equivalentTo"} xref: SCTID:699756005 {source="MONDO:equivalentTo"} @@ -365349,8 +365187,8 @@ subset: ordo_disease {source="Orphanet:67044"} synonym: "congenital dyserythropoietic anemia with thombocytopenia" EXACT [Orphanet:67044] synonym: "X-linked congenital dyserythropoietic anemia with thrombocytopenia" EXACT [Orphanet:67044] synonym: "XDAT" EXACT ABBREVIATION [Orphanet:67044] -xref: ICD10CM:D69.4 {source="ORDO:67044/attributed", source="ORDO:67044/ntbt", source="Orphanet:67044"} -xref: OMIM:300367 {source="MONDO:subClassOf", source="ORDO:67044/ntbt", source="Orphanet:67044"} +xref: ICD10CM:D69.4 {source="Orphanet:67044", source="Orphanet:67044/attributed", source="Orphanet:67044/ntbt"} +xref: OMIM:300367 {source="MONDO:subClassOf", source="Orphanet:67044", source="Orphanet:67044/ntbt"} xref: Orphanet:67044 {source="MONDO:equivalentTo"} xref: SCTID:722475006 {source="MONDO:equivalentTo"} xref: UMLS:C1845837 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:67044"} @@ -365366,8 +365204,8 @@ id: MONDO:0019032 name: X-linked intellectual disability with isolated growth hormone deficiency subset: ordo_clinical_subtype {source="Orphanet:67045"} synonym: "MRGH" EXACT ABBREVIATION [Orphanet:67045] -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="ORDO:67045/attributed", source="ORDO:67045/ntbt", source="Orphanet:67045"} -xref: OMIM:300123 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:67045/ntbt", source="Orphanet:67045"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:67045/attributed", source="Orphanet:67045/ntbt", source="Orphanet:67045"} +xref: OMIM:300123 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:67045/ntbt", source="Orphanet:67045"} xref: Orphanet:67045 {source="MONDO:equivalentTo"} xref: UMLS:C1848068 {source="MONDO:equivalentTo", source="Orphanet:67045"} is_a: MONDO:0020119 {source="Orphanet:67045"} ! X-linked syndromic intellectual disability @@ -365382,11 +365220,11 @@ subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:671"} synonym: "cutis verticis gyrata" EXACT [] xref: GARD:0001643 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:671/ntbt", source="Orphanet:671"} +xref: ICD10CM:Q82.8 {source="Orphanet:671/ntbt", source="Orphanet:671"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:671 {source="GARD:0001643", source="MONDO:equivalentTo"} xref: SCTID:51603000 {source="MONDO:equivalentTo"} -xref: UMLS:C0263417 {source="GARD:0001643", source="MONDO:equivalentTo", source="ORDO:671/e", source="Orphanet:671"} +xref: UMLS:C0263417 {source="Orphanet:671/e", source="GARD:0001643", source="MONDO:equivalentTo", source="Orphanet:671"} is_a: MONDO:0021154 {source="Orphanet:671"} ! dermis disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata xsd:anyURI {source="GARD:0001643"} @@ -365398,11 +365236,11 @@ subset: gard_rare {source="GARD:0000454"} subset: ordo_morphological_anomaly {source="Orphanet:674"} synonym: "pancreas accessorium" RELATED [GARD:0000454] xref: GARD:0000454 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q45.3 {source="ORDO:674/inclusion", source="ORDO:674/ntbt", source="Orphanet:674"} -xref: MESH:C536003 {source="MONDO:equivalentTo", source="ORDO:674/e", source="Orphanet:674"} +xref: ICD10CM:Q45.3 {source="Orphanet:674/ntbt", source="Orphanet:674/inclusion", source="Orphanet:674"} +xref: MESH:C536003 {source="Orphanet:674/e", source="MONDO:equivalentTo", source="Orphanet:674"} xref: Orphanet:674 {source="MONDO:equivalentTo"} xref: SCTID:79037006 {source="MONDO:equivalentTo"} -xref: UMLS:C0266268 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:674/e", source="Orphanet:674"} +xref: UMLS:C0266268 {source="Orphanet:674/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:674"} is_a: MONDO:0015213 {source="Orphanet:674"} ! non-syndromic visceral malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas xsd:anyURI {source="GARD:0000454"} @@ -365417,14 +365255,14 @@ synonym: "PB" RELATED ABBREVIATION [ONCOTREE:PB] xref: DOID:6823 {source="MONDO:equivalentTo"} xref: EFO:1000446 {source="MONDO:equivalentTo"} xref: GARD:0004210 {source="MONDO:equivalentTo"} -xref: ICD10CM:C25.1 {source="Orphanet:677", source="ORDO:677/ntbt"} -xref: MESH:C537162 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="ORDO:677/e"} +xref: ICD10CM:C25.1 {source="Orphanet:677/ntbt", source="Orphanet:677"} +xref: MESH:C537162 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="Orphanet:677/e"} xref: NCIT:C4265 {source="MONDO:equivalentTo", source="DOID:6823"} xref: ONCOTREE:PB {source="MONDO:equivalentTo"} xref: Orphanet:677 {source="MONDO:equivalentTo"} xref: SCTID:189814006 {source="DOID:6823"} xref: SCTID:53618008 {source="DOID:6823"} -xref: UMLS:C0334489 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="ORDO:677/e"} +xref: UMLS:C0334489 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="Orphanet:677/e"} is_a: MONDO:0002116 {source="NCIT:C4265"} ! malignant exocrine pancreas neoplasm is_a: MONDO:0021040 {source="MONDO:0018520-obsoleted"} ! pancreatic neoplasm property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma xsd:anyURI {source="GARD:0004210"} @@ -365436,8 +365274,8 @@ def: "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegl subset: gard_rare {source="GARD:0012650"} subset: ordo_disease {source="Orphanet:68"} xref: GARD:0012650 {source="MONDO:equivalentTo"} -xref: ICD10CM:B60.1 {source="Orphanet:68", source="ORDO:68/btnt"} -xref: ICD10CM:B60.2 {source="Orphanet:68", source="ORDO:68/btnt"} +xref: ICD10CM:B60.1 {source="Orphanet:68/btnt", source="Orphanet:68"} +xref: ICD10CM:B60.2 {source="Orphanet:68/btnt", source="Orphanet:68"} xref: Orphanet:68 {source="MONDO:equivalentTo"} xref: UMLS:CN205519 {source="MONDO:equivalentTo"} is_a: MONDO:0005135 {source="Orphanet:68"} ! parasitic infectious disease @@ -365456,20 +365294,20 @@ synonym: "Steele-Richardson-Olszewski syndrome" EXACT [DOID:678] synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471] xref: DOID:678 {source="MONDO:equivalentTo"} xref: GARD:0007471 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G23.1 {source="DOID:678", source="ORDO:683/specific", source="ORDO:683/e", source="Orphanet:683"} +xref: ICD10CM:G23.1 {source="Orphanet:683/e", source="DOID:678", source="Orphanet:683/specific", source="Orphanet:683"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036813 {source="ORDO:683/e", source="Orphanet:683"} -xref: MESH:D013494 {source="DOID:678", source="MONDO:equivalentTo", source="ORDO:683/e", source="Orphanet:683"} +xref: MedDRA:10036813 {source="Orphanet:683/e", source="Orphanet:683"} +xref: MESH:D013494 {source="Orphanet:683/e", source="DOID:678", source="MONDO:equivalentTo", source="Orphanet:683"} xref: NCIT:C85028 {source="DOID:678", source="MONDO:equivalentTo"} -xref: OMIM:260540 {source="ORDO:683/btnt", source="MONDO:superClassOf", source="Orphanet:683"} -xref: OMIM:601104 {source="ORDO:683/btnt", source="DOID:678", source="MONDO:superClassOf", source="Orphanet:683"} -xref: OMIM:609454 {source="ORDO:683/btnt", source="DOID:678", source="MONDO:superClassOf", source="Orphanet:683"} -xref: OMIM:610898 {source="ORDO:683/btnt", source="DOID:678", source="MONDO:superClassOf", source="Orphanet:683"} +xref: OMIM:260540 {source="MONDO:superClassOf", source="Orphanet:683/btnt", source="Orphanet:683"} +xref: OMIM:601104 {source="DOID:678", source="MONDO:superClassOf", source="Orphanet:683/btnt", source="Orphanet:683"} +xref: OMIM:609454 {source="DOID:678", source="MONDO:superClassOf", source="Orphanet:683/btnt", source="Orphanet:683"} +xref: OMIM:610898 {source="DOID:678", source="MONDO:superClassOf", source="Orphanet:683/btnt", source="Orphanet:683"} xref: Orphanet:683 {source="DOID:678", source="MONDO:equivalentTo"} xref: SCTID:192975003 {source="DOID:678"} xref: SCTID:192976002 {source="DOID:678", source="MONDO:equivalentTo"} xref: SCTID:28978003 {source="DOID:678", source="MONDO:relatedTo"} -xref: UMLS:C0038868 {source="DOID:678", source="MONDO:equivalentTo", source="ORDO:683/e", source="Orphanet:683", source="NCIT:C85028"} +xref: UMLS:C0038868 {source="Orphanet:683/e", source="DOID:678", source="MONDO:equivalentTo", source="Orphanet:683", source="NCIT:C85028"} xref: UMLS:CN205522 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C85028"} ! syndromic disease is_a: MONDO:0005395 ! movement disorder @@ -365536,12 +365374,12 @@ xref: DOID:0080014 {source="MONDO:equivalentTo"} xref: ICD10CM:Q00-Q99 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:Q90-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D002869 {source="ORDO:68335/e", source="Orphanet:68335"} +xref: MESH:D002869 {source="Orphanet:68335/e", source="Orphanet:68335"} xref: MESH:D025063 {source="MONDO:equivalentTo"} xref: NCIT:C34470 {source="MONDO:equivalentTo"} xref: Orphanet:68335 {source="MONDO:equivalentTo"} xref: SCTID:409709004 {source="MONDO:equivalentTo"} -xref: UMLS:C0008625 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:68335/e", source="Orphanet:68335"} +xref: UMLS:C0008625 {source="Orphanet:68335/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:68335"} xref: UMLS:C0008626 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:68335"} is_a: MONDO:0003847 {source="DOID:0080014", source="MESH:D025063", source="NCIT:C34470", source="Orphanet:68335"} ! Mendelian disease is_a: MONDO:0019755 {source="Orphanet:68335"} ! developmental defect during embryogenesis @@ -365609,9 +365447,9 @@ xref: Orphanet:68354 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0003406 -consider: MedDRA:10040984 {source="ORDO:68354/e", source="Orphanet:68354"} -consider: MESH:D012893 {source="MONDO:relatedTo", source="ORDO:68354/e", source="Orphanet:68354"} -consider: UMLS:C0851578 {source="ORDO:68354/e", source="Orphanet:68354"} +consider: MedDRA:10040984 {source="Orphanet:68354/e", source="Orphanet:68354"} +consider: MESH:D012893 {source="MONDO:relatedTo", source="Orphanet:68354/e", source="Orphanet:68354"} +consider: UMLS:C0851578 {source="Orphanet:68354/e", source="Orphanet:68354"} [Term] id: MONDO:0019046 @@ -365630,16 +365468,16 @@ xref: DOID:0050987 {source="MONDO:equivalentTo"} xref: DOID:0060786 {source="MONDO:equivalentTo"} xref: DOID:10579 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:0006895 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="ORDO:68356/ntbt", source="ORDO:68356/index", source="Orphanet:68356"} +xref: ICD10CM:E75.2 {source="Orphanet:68356/index", source="Orphanet:68356/ntbt", source="Orphanet:68356"} xref: ICD9:330.0 {source="DOID:10579", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10024381 {source="ORDO:68356/e", source="Orphanet:68356"} +xref: MedDRA:10024381 {source="Orphanet:68356/e", source="Orphanet:68356"} xref: NCIT:C61253 {source="DOID:10579", source="MONDO:equivalentTo"} xref: OMIMPS:312080 {source="MONDO:equivalentTo", source="DOID:0060786"} xref: Orphanet:68356 {source="MONDO:equivalentTo"} xref: SCTID:192781003 {source="DOID:10579", source="MONDO:equivalentTo"} xref: SCTID:192785007 {source="DOID:10579"} xref: SCTID:5101009 {source="DOID:10579"} -xref: UMLS:C0023520 {source="DOID:10579", source="MONDO:equivalentTo", source="NCIT:C61253", source="ORDO:68356/e", source="Orphanet:68356"} +xref: UMLS:C0023520 {source="DOID:10579", source="Orphanet:68356/e", source="MONDO:equivalentTo", source="NCIT:C61253", source="Orphanet:68356"} xref: UMLS:CN228461 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="MONDO:Redundant", source="Orphanet:68356", source="indirect"} ! nervous system disorder is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1519", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease @@ -365710,33 +365548,33 @@ synonym: "hemoglobinopathy" RELATED [DOID:2860] synonym: "hereditary hemoglobinopathy" EXACT [MONDO:patterns/hereditary] xref: DOID:2860 {source="MONDO:equivalentTo"} xref: GARD:0012455 {source="MONDO:equivalentTo"} -xref: ICD10CM:D56.0 {source="ORDO:68364/btnt", source="MONDO:superClassOf", source="Orphanet:68364"} -xref: ICD10CM:D56.1 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D56.2 {source="ORDO:68364/btnt", source="MONDO:superClassOf", source="Orphanet:68364"} -xref: ICD10CM:D56.3 {source="ORDO:68364/btnt", source="MONDO:superClassOf", source="Orphanet:68364"} -xref: ICD10CM:D56.4 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D56.8 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D56.9 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D57.0 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D57.1 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D57.2 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D57.3 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D57.8 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D58.0 {source="ORDO:68364/btnt", source="MONDO:relatedTo", source="Orphanet:68364"} -xref: ICD10CM:D58.1 {source="ORDO:68364/btnt", source="MONDO:relatedTo", source="Orphanet:68364"} -xref: ICD10CM:D58.2 {source="DOID:2860", source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D58.8 {source="ORDO:68364/btnt", source="Orphanet:68364"} -xref: ICD10CM:D58.9 {source="ORDO:68364/btnt", source="Orphanet:68364"} +xref: ICD10CM:D56.0 {source="MONDO:superClassOf", source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D56.1 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D56.2 {source="MONDO:superClassOf", source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D56.3 {source="MONDO:superClassOf", source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D56.4 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D56.8 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D56.9 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D57.0 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D57.1 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D57.2 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D57.3 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D57.8 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D58.0 {source="MONDO:relatedTo", source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D58.1 {source="MONDO:relatedTo", source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D58.2 {source="DOID:2860", source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D58.8 {source="Orphanet:68364", source="Orphanet:68364/btnt"} +xref: ICD10CM:D58.9 {source="Orphanet:68364", source="Orphanet:68364/btnt"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10060892 {source="ORDO:68364/e", source="Orphanet:68364"} -xref: MESH:D006453 {source="DOID:2860", source="MONDO:equivalentTo", source="ORDO:68364/e", source="Orphanet:68364"} +xref: MedDRA:10060892 {source="Orphanet:68364/e", source="Orphanet:68364"} +xref: MESH:D006453 {source="Orphanet:68364/e", source="DOID:2860", source="MONDO:equivalentTo", source="Orphanet:68364"} xref: NCIT:C3092 {source="DOID:2860", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:68364 {source="MONDO:equivalentTo"} xref: SCTID:154794008 {source="DOID:2860"} xref: SCTID:267556002 {source="DOID:2860"} xref: SCTID:427306008 {source="MONDO:equivalentTo"} xref: SCTID:80141007 {source="MONDO:subClassOf", source="DOID:2860"} -xref: UMLS:C0019045 {source="DOID:2860", source="MONDO:equivalentTo", source="ORDO:68364/e", source="Orphanet:68364", source="NCIT:C3092"} +xref: UMLS:C0019045 {source="Orphanet:68364/e", source="DOID:2860", source="MONDO:equivalentTo", source="Orphanet:68364", source="NCIT:C3092"} xref: UMLS:C1960031 {source="MONDO:equivalentTo"} is_a: MONDO:0044348 {source="MONDO:Redundant", source="linkedlifedata"} ! hemoglobinopathy intersection_of: MONDO:0044348 ! hemoglobinopathy @@ -365771,16 +365609,16 @@ synonym: "rare inborn errors of metabolism" NARROW [Orphanet:68367] synonym: "rare inherited metabolic disorder" NARROW [] synonym: "rare metabolic disease" RELATED [Orphanet:68367] xref: DOID:655 {source="MONDO:equivalentTo"} -xref: MedDRA:10058097 {source="ORDO:68367/e", source="Orphanet:68367"} -xref: MedDRA:10062018 {source="ORDO:68367/e", source="Orphanet:68367"} -xref: MESH:D008659 {source="MONDO:subClassOf", source="ORDO:68367/e", source="Orphanet:68367"} -xref: MESH:D008661 {source="DOID:655", source="MONDO:equivalentTo", source="ORDO:68367/e", source="Orphanet:68367"} +xref: MedDRA:10058097 {source="Orphanet:68367/e", source="Orphanet:68367"} +xref: MedDRA:10062018 {source="Orphanet:68367/e", source="Orphanet:68367"} +xref: MESH:D008659 {source="MONDO:subClassOf", source="Orphanet:68367/e", source="Orphanet:68367"} +xref: MESH:D008661 {source="DOID:655", source="Orphanet:68367/e", source="MONDO:equivalentTo", source="Orphanet:68367"} xref: NCIT:C34816 {source="DOID:655", source="MONDO:equivalentTo"} xref: Orphanet:68367 {source="MONDO:equivalentTo", source="note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1"} xref: SCTID:363205007 {source="DOID:655"} xref: SCTID:86095007 {source="DOID:655", source="MONDO:equivalentTo"} -xref: UMLS:C0025517 {source="MONDO:subClassOf", source="ORDO:68367/e", source="Orphanet:68367"} -xref: UMLS:C0025521 {source="DOID:655", source="NCIT:C34816", source="MONDO:equivalentTo", source="ORDO:68367/e", source="Orphanet:68367"} +xref: UMLS:C0025517 {source="MONDO:subClassOf", source="Orphanet:68367/e", source="Orphanet:68367"} +xref: UMLS:C0025521 {source="DOID:655", source="NCIT:C34816", source="Orphanet:68367/e", source="MONDO:equivalentTo", source="Orphanet:68367"} is_a: MONDO:0003847 {source="MESH:D008661", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:68367", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0005066 {source="DOID:655", source="MESH:D008661", source="MONDO:Redundant", source="NCIT:C34816", source="OWLReasoner:2017", source="linkedlifedata"} ! metabolic disease intersection_of: MONDO:0005066 ! metabolic disease @@ -365802,11 +365640,11 @@ xref: ICD10CM:E71.5 {source="DOID:906"} xref: ICD10CM:E71.50 {source="DOID:906"} xref: ICD9:277.86 {source="MONDO:equivalentTo", source="i2s", source="DOID:906"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D018901 {source="ORDO:68373/e", source="Orphanet:68373", source="DOID:906"} +xref: MESH:D018901 {source="Orphanet:68373", source="DOID:906", source="Orphanet:68373/e"} xref: NCIT:C85005 {source="MONDO:equivalentTo", source="DOID:906"} xref: Orphanet:68373 {source="MONDO:equivalentTo"} xref: SCTID:238059005 {source="MONDO:equivalentTo", source="DOID:906"} -xref: UMLS:C0282528 {source="MONDO:equivalentTo", source="ORDO:68373/e", source="Orphanet:68373", source="DOID:906", source="NCIT:C85005"} +xref: UMLS:C0282528 {source="MONDO:equivalentTo", source="Orphanet:68373", source="DOID:906", source="Orphanet:68373/e", source="NCIT:C85005"} is_a: MONDO:0019052 {source="DOID:906", source="MONDO:Redundant", source="NCIT:C85005", source="Orphanet:68373", source="linkedlifedata"} ! inborn errors of metabolism is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -365844,14 +365682,14 @@ xref: ICD10CM:G70-G73 {source="MONDO:subClassOf", source="https://github.com/mon xref: ICD10CM:G70.9 {source="DOID:440"} xref: ICD9:358 {source="DOID:440"} xref: ICD9:358.9 {source="DOID:440"} -xref: MedDRA:10029323 {source="ORDO:68381/e", source="Orphanet:68381"} -xref: MESH:D009468 {source="ORDO:68381/e", source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440"} +xref: MedDRA:10029323 {source="Orphanet:68381", source="Orphanet:68381/e"} +xref: MESH:D009468 {source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440", source="Orphanet:68381/e"} xref: Orphanet:68381 {source="MONDO:equivalentTo"} xref: SCTID:1664005 {source="DOID:440"} xref: SCTID:193218007 {source="DOID:440"} xref: SCTID:255522009 {source="DOID:440"} xref: SCTID:257277002 {source="DOID:440"} -xref: UMLS:C0027868 {source="ORDO:68381/e", source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440"} +xref: UMLS:C0027868 {source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440", source="Orphanet:68381/e"} is_a: MONDO:0005071 {source="ISBN-13:978-1259644030"} ! nervous system disorder intersection_of: MONDO:0005071 ! nervous system disorder intersection_of: disease_disrupts GO:0050905 ! neuromuscular process @@ -365985,9 +365823,9 @@ synonym: "Strumpell-Lorrain disease" EXACT [DOID:2476] synonym: "Strümpell-Lorrain disease" EXACT [Orphanet:685] xref: DOID:2476 {source="MONDO:equivalentTo"} xref: GARD:0006637 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.4 {source="DOID:2476", source="MONDO:equivalentTo", source="ORDO:685/specific", source="ORDO:685/e", source="Orphanet:685"} +xref: ICD10CM:G11.4 {source="Orphanet:685/specific", source="Orphanet:685/e", source="DOID:2476", source="MONDO:equivalentTo", source="Orphanet:685"} xref: ICD9:334.1 {source="DOID:2476", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10019903 {source="ORDO:685/e", source="Orphanet:685"} +xref: MedDRA:10019903 {source="Orphanet:685/e", source="Orphanet:685"} xref: MESH:D015419 {source="MONDO:equivalentTo"} xref: NCIT:C140267 {source="MONDO:equivalentTo"} xref: OMIMPS:303350 {source="DOID:2476", source="MONDO:equivalentTo"} @@ -365996,7 +365834,7 @@ xref: SCTID:155013000 {source="DOID:2476"} xref: SCTID:267692008 {source="DOID:2476"} xref: SCTID:39912006 {source="DOID:2476", source="MONDO:equivalentTo"} xref: SCTID:76043009 {source="DOID:2476", source="MONDO:superClassOf"} -xref: UMLS:C0037773 {source="DOID:2476", source="MONDO:notFoundInDiseaseSubset", source="ORDO:685/e", source="Orphanet:685"} +xref: UMLS:C0037773 {source="Orphanet:685/e", source="DOID:2476", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:685"} xref: UMLS:C2931355 {source="MONDO:superClassOf", source="Orphanet:685"} is_a: MONDO:0003757 {source="DOID:2476", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraplegia is_a: MONDO:0005559 {source="MESH:D015419/inferred", source="MONDO:Redundant", source="NCIT:C140267", source="Orphanet:685/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease @@ -366022,24 +365860,24 @@ xref: DOID:9120 {source="MONDO:equivalentTo"} xref: EFO:1001875 {source="MONDO:equivalentTo"} xref: HP:0011034 {source="MONDO:otherHierarchy"} xref: ICD10CM:E85 {source="DOID:9120"} -xref: ICD10CM:E85.0 {source="Orphanet:69", source="ORDO:69/btnt"} -xref: ICD10CM:E85.1 {source="Orphanet:69", source="ORDO:69/btnt"} -xref: ICD10CM:E85.2 {source="Orphanet:69", source="ORDO:69/btnt"} -xref: ICD10CM:E85.3 {source="Orphanet:69", source="ORDO:69/btnt"} -xref: ICD10CM:E85.4 {source="Orphanet:69", source="ORDO:69/btnt"} -xref: ICD10CM:E85.8 {source="Orphanet:69", source="ORDO:69/btnt"} -xref: ICD10CM:E85.9 {source="Orphanet:69", source="ORDO:69/btnt", source="DOID:9120"} +xref: ICD10CM:E85.0 {source="Orphanet:69/btnt", source="Orphanet:69"} +xref: ICD10CM:E85.1 {source="Orphanet:69/btnt", source="Orphanet:69"} +xref: ICD10CM:E85.2 {source="Orphanet:69/btnt", source="Orphanet:69"} +xref: ICD10CM:E85.3 {source="Orphanet:69/btnt", source="Orphanet:69"} +xref: ICD10CM:E85.4 {source="Orphanet:69/btnt", source="Orphanet:69"} +xref: ICD10CM:E85.8 {source="Orphanet:69/btnt", source="Orphanet:69"} +xref: ICD10CM:E85.9 {source="Orphanet:69/btnt", source="Orphanet:69", source="DOID:9120"} xref: ICD9:277.3 {source="MONDO:equivalentTo", source="DOID:9120", source="i2s"} xref: ICD9:277.30 {source="MONDO:equivalentTo", source="DOID:9120", source="i2s"} -xref: MedDRA:10002022 {source="Orphanet:69", source="ORDO:69/e"} -xref: MESH:D000686 {source="Orphanet:69", source="ORDO:69/e", source="MONDO:equivalentTo", source="DOID:9120"} +xref: MedDRA:10002022 {source="Orphanet:69", source="Orphanet:69/e"} +xref: MESH:D000686 {source="Orphanet:69", source="MONDO:equivalentTo", source="DOID:9120", source="Orphanet:69/e"} xref: NCIT:C2868 {source="MONDO:equivalentTo", source="DOID:9120"} xref: ONCOTREE:MIDDA {source="MONDO:equivalentTo"} xref: Orphanet:69 {source="MONDO:equivalentTo"} xref: SCTID:154769007 {source="DOID:9120"} xref: SCTID:17602002 {source="MONDO:equivalentTo", source="DOID:9120"} xref: SCTID:190931005 {source="DOID:9120"} -xref: UMLS:C0002726 {source="NCIT:C2868", source="Orphanet:69", source="ORDO:69/e", source="MONDO:equivalentTo", source="DOID:9120"} +xref: UMLS:C0002726 {source="NCIT:C2868", source="Orphanet:69", source="MONDO:equivalentTo", source="DOID:9120", source="Orphanet:69/e"} is_a: MONDO:0021179 {source="MESH:D000686"} ! proteostasis deficiencies property_value: IAO:0000589 "amyloidosis (disease)" xsd:string @@ -366050,7 +365888,7 @@ def: "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:69028"} synonym: "dysostosis with brachydactyly" RELATED [Orphanet:69028] -xref: ICD10CM:Q73.8 {source="ORDO:69028/attributed", source="ORDO:69028/ntbt", source="Orphanet:69028"} +xref: ICD10CM:Q73.8 {source="Orphanet:69028/attributed", source="Orphanet:69028/ntbt", source="Orphanet:69028"} xref: Orphanet:69028 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN205546 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -366063,8 +365901,8 @@ id: MONDO:0019067 name: idiopathic steroid-sensitive nephrotic syndrome def: "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." [Orphanet:69061] subset: ordo_clinical_syndrome {source="Orphanet:69061"} -xref: ICD10CM:N04.0 {source="Orphanet:69061", source="ORDO:69061/attributed", source="ORDO:69061/ntbt"} -xref: OMIM:615861 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:69061", source="ORDO:69061/ntbt"} +xref: ICD10CM:N04.0 {source="Orphanet:69061/attributed", source="Orphanet:69061/ntbt", source="Orphanet:69061"} +xref: OMIM:615861 {source="MONDO:subClassOf", source="Orphanet:69061/ntbt", source="MONDO:relatedTo", source="Orphanet:69061"} xref: Orphanet:69061 {source="MONDO:equivalentTo"} is_a: MONDO:0018170 {source="Orphanet:69061"} ! idiopathic nephrotic syndrome @@ -366080,7 +365918,7 @@ synonym: "neonatal glomerulopathy due to Neprilysin alloimmunization" EXACT [Orp synonym: "neonatal glomerulopathy due to neprilysin alloimmunization" EXACT [Orphanet:69063] synonym: "neonatal membranous glomerulopathy with maternal NEP deficiency" EXACT [Orphanet:69063] synonym: "neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency" EXACT [Orphanet:69063] -xref: ICD10CM:P96.0 {source="Orphanet:69063", source="ORDO:69063/ntbt"} +xref: ICD10CM:P96.0 {source="Orphanet:69063", source="Orphanet:69063/ntbt"} xref: Orphanet:69063 {source="MONDO:equivalentTo"} xref: SCTID:725592009 {source="MONDO:equivalentTo"} xref: UMLS:C4511239 {source="MONDO:equivalentTo"} @@ -366109,10 +365947,10 @@ synonym: "hair-nail ectodermal dysplasia" EXACT [Orphanet:69084] synonym: "HNED" EXACT ABBREVIATION [Orphanet:69084] synonym: "PHNED" EXACT ABBREVIATION [Orphanet:69084] xref: DOID:0111655 {source="MONDO:equivalentTo"} -xref: OMIM:602032 {source="Orphanet:69084", source="MONDO:superClassOf", source="ORDO:69084/btnt"} -xref: OMIM:614928 {source="Orphanet:69084", source="MONDO:superClassOf", source="ORDO:69084/btnt"} -xref: OMIM:614929 {source="Orphanet:69084", source="MONDO:superClassOf", source="ORDO:69084/btnt"} -xref: OMIM:614931 {source="Orphanet:69084", source="MONDO:superClassOf", source="ORDO:69084/btnt"} +xref: OMIM:602032 {source="Orphanet:69084/btnt", source="Orphanet:69084", source="MONDO:superClassOf"} +xref: OMIM:614928 {source="Orphanet:69084/btnt", source="Orphanet:69084", source="MONDO:superClassOf"} +xref: OMIM:614929 {source="Orphanet:69084/btnt", source="Orphanet:69084", source="MONDO:superClassOf"} +xref: OMIM:614931 {source="Orphanet:69084/btnt", source="Orphanet:69084", source="MONDO:superClassOf"} xref: Orphanet:69084 {source="MONDO:equivalentTo"} xref: UMLS:C1865951 {source="Orphanet:69084", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019287 {source="Orphanet:69084"} ! ectodermal dysplasia syndrome @@ -366138,17 +365976,17 @@ xref: DOID:1852 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0009048 {source="MONDO:equivalentTo"} xref: GARD:0009804 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:9804 {source="DOID:0070227"} -xref: ICD10CM:O26.6 {source="ORDO:69665/ntbt", source="Orphanet:69665"} -xref: MESH:C535932 {source="MONDO:superClassOf", source="DOID:0070227", source="ORDO:69665/e", source="Orphanet:69665"} +xref: ICD10CM:O26.6 {source="Orphanet:69665/ntbt", source="Orphanet:69665"} +xref: MESH:C535932 {source="Orphanet:69665/e", source="MONDO:superClassOf", source="DOID:0070227", source="Orphanet:69665"} xref: MESH:D002780 {source="DOID:1852", source="MONDO:equivalentTo"} xref: NCIT:C84400 {source="DOID:1852", source="MONDO:otherHierarchy"} -xref: OMIM:147480 {source="ORDO:69665/btnt", source="DOID:1852", source="MONDO:superClassOf", source="Orphanet:69665"} +xref: OMIM:147480 {source="DOID:1852", source="Orphanet:69665/btnt", source="MONDO:superClassOf", source="Orphanet:69665"} xref: OMIM:211600 {source="DOID:1852", source="MONDO:superClassOf"} xref: OMIM:243300 {source="DOID:1852", source="MONDO:superClassOf"} xref: OMIM:601847 {source="DOID:1852", source="MONDO:superClassOf"} xref: OMIM:602347 {source="DOID:1852", source="MONDO:superClassOf"} xref: OMIM:605479 {source="DOID:1852", source="MONDO:superClassOf"} -xref: OMIM:614972 {source="ORDO:69665/btnt", source="DOID:1852", source="MONDO:superClassOf", source="Orphanet:69665"} +xref: OMIM:614972 {source="DOID:1852", source="Orphanet:69665/btnt", source="MONDO:superClassOf", source="Orphanet:69665"} xref: OMIM:615878 {source="DOID:1852", source="MONDO:superClassOf"} xref: Orphanet:172 {source="DOID:1852", source="MONDO:superClassOf"} xref: Orphanet:65682 {source="DOID:1852", source="MONDO:superClassOf"} @@ -366196,8 +366034,8 @@ id: MONDO:0019075 name: Bosley-Salih-Alorainy syndrome def: "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." [Orphanet:69737] subset: ordo_malformation_syndrome {source="Orphanet:69737"} -xref: ICD10CM:Q87.8 {source="Orphanet:69737", source="ORDO:69737/attributed", source="ORDO:69737/ntbt"} -xref: OMIM:601536 {source="MONDO:subClassOf", source="Orphanet:69737", source="ORDO:69737/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:69737/attributed", source="Orphanet:69737/ntbt", source="Orphanet:69737"} +xref: OMIM:601536 {source="MONDO:subClassOf", source="Orphanet:69737/ntbt", source="Orphanet:69737"} xref: Orphanet:69737 {source="MONDO:equivalentTo"} xref: UMLS:C1832216 {source="Orphanet:69737", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder @@ -366225,11 +366063,11 @@ def: "A rare, usually solitary, benign epithelial tumor of the skin that appears subset: ordo_disease {source="Orphanet:69745"} synonym: "follicular dyskeratoma" EXACT [Orphanet:69745] synonym: "isolated follicular keratosis" EXACT [NCIT:C4087] -xref: MedDRA:10068856 {source="Orphanet:69745", source="ORDO:69745/e"} +xref: MedDRA:10068856 {source="Orphanet:69745", source="Orphanet:69745/e"} xref: NCIT:C4087 {source="MONDO:equivalentTo"} xref: Orphanet:69745 {source="MONDO:equivalentTo"} xref: SCTID:254676008 {source="MONDO:equivalentTo"} -xref: UMLS:C0334063 {source="Orphanet:69745", source="NCIT:C4087", source="MONDO:equivalentTo", source="ORDO:69745/e"} +xref: UMLS:C0334063 {source="Orphanet:69745", source="NCIT:C4087", source="MONDO:equivalentTo", source="Orphanet:69745/e"} is_a: MONDO:0002093 {source="NCIT:C4087"} ! acanthoma is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C4087/inferred"} ! epithelial skin neoplasm @@ -366253,14 +366091,14 @@ synonym: "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" RELATED [GARD:000 synonym: "Ritscher-Schinzel syndrome" EXACT [MESH:C535313, Orphanet:7] xref: DOID:0060565 {source="MONDO:equivalentTo"} xref: GARD:0005666 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:7", source="DOID:0060565", source="ORDO:7/attributed", source="ORDO:7/ntbt"} -xref: MESH:C535313 {source="ORDO:7/e", source="Orphanet:7", source="DOID:0060565", source="MONDO:equivalentTo"} -xref: OMIM:220210 {source="ORDO:7/e", source="Orphanet:7", source="GARD:0005666", source="MONDO:superClassOf"} -xref: OMIM:300963 {source="Orphanet:7", source="MONDO:superClassOf", source="ORDO:7/btnt"} +xref: ICD10CM:Q87.8 {source="Orphanet:7", source="Orphanet:7/attributed", source="Orphanet:7/ntbt", source="DOID:0060565"} +xref: MESH:C535313 {source="Orphanet:7", source="DOID:0060565", source="MONDO:equivalentTo", source="Orphanet:7/e"} +xref: OMIM:220210 {source="Orphanet:7", source="GARD:0005666", source="MONDO:superClassOf", source="Orphanet:7/e"} +xref: OMIM:300963 {source="Orphanet:7", source="Orphanet:7/btnt", source="MONDO:superClassOf"} xref: OMIMPS:220210 {source="DOID:0060565", source="MONDO:equivalentTo"} xref: Orphanet:7 {source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo"} xref: SCTID:718556007 {source="MONDO:equivalentTo"} -xref: UMLS:C0796137 {source="ORDO:7/e", source="Orphanet:7", source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo"} +xref: UMLS:C0796137 {source="Orphanet:7", source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo", source="Orphanet:7/e"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:7", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:7"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020022 ! central nervous system malformation @@ -366279,12 +366117,12 @@ subset: ordo_disease {source="Orphanet:70"} synonym: "SMA" EXACT ABBREVIATION [Orphanet:70] xref: EFO:0008929 {source="MONDO:equivalentTo"} xref: GARD:0004531 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.0 {source="ORDO:70/attributed", source="ORDO:70/ntbt", source="Orphanet:70"} -xref: ICD10CM:G12.1 {source="ORDO:70/attributed", source="ORDO:70/ntbt", source="Orphanet:70"} -xref: OMIM:253300 {source="ORDO:70/btnt", source="MONDO:superClassOf", source="Orphanet:70"} -xref: OMIM:253400 {source="ORDO:70/btnt", source="MONDO:superClassOf", source="Orphanet:70"} -xref: OMIM:253550 {source="ORDO:70/btnt", source="MONDO:superClassOf", source="Orphanet:70"} -xref: OMIM:271150 {source="ORDO:70/btnt", source="MONDO:superClassOf", source="Orphanet:70"} +xref: ICD10CM:G12.0 {source="Orphanet:70", source="Orphanet:70/attributed", source="Orphanet:70/ntbt"} +xref: ICD10CM:G12.1 {source="Orphanet:70", source="Orphanet:70/attributed", source="Orphanet:70/ntbt"} +xref: OMIM:253300 {source="MONDO:superClassOf", source="Orphanet:70", source="Orphanet:70/btnt"} +xref: OMIM:253400 {source="MONDO:superClassOf", source="Orphanet:70", source="Orphanet:70/btnt"} +xref: OMIM:253550 {source="MONDO:superClassOf", source="Orphanet:70", source="Orphanet:70/btnt"} +xref: OMIM:271150 {source="MONDO:superClassOf", source="Orphanet:70", source="Orphanet:70/btnt"} xref: Orphanet:70 {source="MONDO:equivalentTo"} xref: UMLS:C4024957 {source="MONDO:equivalentTo"} xref: UMLS:CN205570 {source="MONDO:equivalentTo"} @@ -366300,15 +366138,15 @@ subset: ordo_disease {source="Orphanet:700"} synonym: "alopecia totalis" EXACT [] synonym: "total alopecia areata" RELATED [] xref: GARD:0000613 {source="MONDO:equivalentTo"} -xref: ICD10CM:L63.0 {source="ORDO:700/e", source="Orphanet:700", source="ORDO:700/specific"} +xref: ICD10CM:L63.0 {source="Orphanet:700", source="Orphanet:700/e", source="Orphanet:700/specific"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10001766 {source="ORDO:700/e", source="Orphanet:700"} -xref: OMIM:104000 {source="Orphanet:700", source="MONDO:relatedTo", source="ORDO:700/ntbt"} -xref: OMIM:300042 {source="Orphanet:700", source="MONDO:superClassOf", source="ORDO:700/btnt"} -xref: OMIM:610753 {source="Orphanet:700", source="MONDO:superClassOf", source="ORDO:700/btnt"} +xref: MedDRA:10001766 {source="Orphanet:700", source="Orphanet:700/e"} +xref: OMIM:104000 {source="Orphanet:700", source="MONDO:relatedTo", source="Orphanet:700/ntbt"} +xref: OMIM:300042 {source="Orphanet:700", source="Orphanet:700/btnt", source="MONDO:superClassOf"} +xref: OMIM:610753 {source="Orphanet:700", source="Orphanet:700/btnt", source="MONDO:superClassOf"} xref: Orphanet:700 {source="MONDO:equivalentTo"} xref: SCTID:19754005 {source="MONDO:equivalentTo"} -xref: UMLS:C0263504 {source="ORDO:700/e", source="Orphanet:700", source="MONDO:equivalentTo"} +xref: UMLS:C0263504 {source="Orphanet:700", source="MONDO:equivalentTo", source="Orphanet:700/e"} is_a: MONDO:0004907 {source="Orphanet:700", source="linkedlifedata"} ! alopecia property_value: confidence "1.1064814814814814" xsd:double @@ -366333,10 +366171,10 @@ xref: DOID:8506 {source="MONDO:equivalentTo", source="EFO:0007187"} xref: EFO:0007187 {source="MONDO:equivalentTo"} xref: GARD:0005972 {source="MONDO:equivalentTo"} xref: ICD10CM:L12 {source="DOID:8506"} -xref: ICD10CM:L12.0 {source="ORDO:703/e", source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703"} +xref: ICD10CM:L12.0 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e"} xref: ICD10CM:L12.9 {source="DOID:8506"} xref: ICD9:694.5 {source="DOID:8506"} -xref: MESH:D010391 {source="ORDO:703/e", source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="EFO:0007187"} +xref: MESH:D010391 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="EFO:0007187", source="Orphanet:703/e"} xref: NCIT:C34908 {source="DOID:8506"} xref: NCIT:C84389 {source="MONDO:equivalentTo", source="DOID:8506"} xref: Orphanet:703 {source="MONDO:equivalentTo"} @@ -366344,7 +366182,7 @@ xref: SCTID:156356009 {source="DOID:8506"} xref: SCTID:200912002 {source="DOID:8506"} xref: SCTID:77090002 {source="MONDO:equivalentTo", source="DOID:8506"} xref: SCTID:86142006 {source="DOID:8506"} -xref: UMLS:C0030805 {source="ORDO:703/e", source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="NCIT:C84389"} +xref: UMLS:C0030805 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e", source="NCIT:C84389"} is_a: MONDO:0019337 {source="EFO:0007187", source="Orphanet:703", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune bullous skin disease relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin @@ -366355,8 +366193,8 @@ subset: ordo_disease {source="Orphanet:70474"} synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [Orphanet:70474] synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70474] synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474] -xref: ICD10CM:G31.8 {source="Orphanet:70474", source="ORDO:70474/attributed", source="ORDO:70474/ntbt"} -xref: OMIM:256000 {source="MONDO:subClassOf", source="Orphanet:70474", source="ORDO:70474/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:G31.8 {source="Orphanet:70474/attributed", source="Orphanet:70474/ntbt", source="Orphanet:70474"} +xref: OMIM:256000 {source="MONDO:subClassOf", source="Orphanet:70474/ntbt", source="Orphanet:70474", source="MONDO:directSiblingOf"} xref: Orphanet:70474 {source="MONDO:equivalentTo"} xref: UMLS:CN205578 {source="MONDO:equivalentTo"} is_a: MONDO:0009723 {source="indirect", comment="Orphanet:70474"} ! Leigh syndrome @@ -366369,12 +366207,12 @@ id: MONDO:0019084 name: radiation proctitis def: "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." [Orphanet:70475] subset: ordo_disease {source="Orphanet:70475"} -xref: ICD10CM:K62.7 {source="ORDO:70475/e", source="Orphanet:70475", source="MONDO:equivalentTo"} +xref: ICD10CM:K62.7 {source="Orphanet:70475", source="MONDO:equivalentTo", source="Orphanet:70475/e"} xref: ICD9:569.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10037766 {source="ORDO:70475/e", source="Orphanet:70475"} +xref: MedDRA:10037766 {source="Orphanet:70475", source="Orphanet:70475/e"} xref: Orphanet:70475 {source="MONDO:equivalentTo"} xref: SCTID:235760009 {source="MONDO:equivalentTo"} -xref: UMLS:C0400827 {source="ORDO:70475/e", source="Orphanet:70475", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0400827 {source="Orphanet:70475", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:70475/e"} is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:70475"} ! intestinal disorder intersection_of: MONDO:0005538 ! proctitis intersection_of: realized_in_response_to ECTO:0000001 ! exposure to radiation @@ -366389,10 +366227,10 @@ subset: ordo_disease {source="Orphanet:70476"} synonym: "Spring catarrh" EXACT [Orphanet:70476] synonym: "VKC" RELATED ABBREVIATION [GARD:0007854] xref: GARD:0007854 {source="MONDO:equivalentTo"} -xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:70476", source="ORDO:70476/ntbt"} +xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:70476", source="Orphanet:70476/ntbt"} xref: Orphanet:70476 {source="MONDO:equivalentTo"} xref: SCTID:317349009 {source="MONDO:equivalentTo"} -xref: UMLS:C0022577 {source="ORDO:70476/e", source="MONDO:equivalentTo", source="Orphanet:70476"} +xref: UMLS:C0022577 {source="MONDO:equivalentTo", source="Orphanet:70476", source="Orphanet:70476/e"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder is_a: MONDO:0020211 {source="Orphanet:70476"} ! syndromic keratoconus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis xsd:anyURI {source="GARD:0007854"} @@ -366415,7 +366253,7 @@ synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482 synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513] xref: DOID:1107 {source="MONDO:equivalentTo"} xref: EFO:0002916 {source="MONDO:equivalentTo", source="DOID:1107"} -xref: MedDRA:10030155 {source="Orphanet:70482", source="ORDO:70482/e"} +xref: MedDRA:10030155 {source="Orphanet:70482", source="Orphanet:70482/e"} xref: NCIT:C3513 {source="MONDO:equivalentTo", source="DOID:1107"} xref: Orphanet:70482 {source="MONDO:equivalentTo"} xref: SCTID:154441003 {source="DOID:1107"} @@ -366423,7 +366261,7 @@ xref: SCTID:255079005 {source="DOID:1107"} xref: SCTID:372138000 {source="MONDO:equivalentTo", source="DOID:1107"} xref: SCTID:93785002 {source="DOID:1107"} xref: UMLS:C0014859 {source="MONDO:subClassOf", source="Orphanet:70482"} -xref: UMLS:C0152018 {source="Orphanet:70482", source="MONDO:equivalentTo", source="DOID:1107", source="NCIT:C3513", source="ORDO:70482/e"} +xref: UMLS:C0152018 {source="Orphanet:70482", source="MONDO:equivalentTo", source="Orphanet:70482/e", source="DOID:1107", source="NCIT:C3513"} xref: UMLS:C0546837 {source="MONDO:subClassOf", source="Orphanet:70482"} is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3513", source="OWLReasoner:2017"} ! digestive system carcinoma is_a: MONDO:0007576 {source="DOID:1107", source="MONDO:Redundant", source="NCIT:C3513", source="linkedlifedata"} ! esophageal cancer @@ -366450,25 +366288,25 @@ synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C4436] xref: DOID:4947 {source="MONDO:equivalentTo", source="EFO:0005221"} xref: EFO:0005221 {source="MONDO:equivalentTo"} xref: GARD:0009304 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C22.1 {source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947"} -xref: ICD10CM:C24.0 {source="ORDO:70567/btnt", source="Orphanet:70567"} -xref: ICD10CM:C24.8 {source="ORDO:70567/btnt", source="Orphanet:70567"} -xref: ICD10CM:C24.9 {source="ORDO:70567/btnt", source="Orphanet:70567"} +xref: ICD10CM:C22.1 {source="Orphanet:70567", source="DOID:4947", source="Orphanet:70567/e"} +xref: ICD10CM:C24.0 {source="Orphanet:70567", source="Orphanet:70567/btnt"} +xref: ICD10CM:C24.8 {source="Orphanet:70567", source="Orphanet:70567/btnt"} +xref: ICD10CM:C24.9 {source="Orphanet:70567", source="Orphanet:70567/btnt"} xref: ICDO:8160/3 {source="NCIT:C4436"} -xref: MedDRA:10004593 {source="ORDO:70567/e", source="Orphanet:70567"} -xref: MedDRA:10008593 {source="ORDO:70567/e", source="Orphanet:70567"} -xref: MESH:D001650 {source="ORDO:70567/e", source="Orphanet:70567"} -xref: MESH:D018281 {source="MONDO:equivalentTo", source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947", source="EFO:0005221"} +xref: MedDRA:10004593 {source="Orphanet:70567", source="Orphanet:70567/e"} +xref: MedDRA:10008593 {source="Orphanet:70567", source="Orphanet:70567/e"} +xref: MESH:D001650 {source="Orphanet:70567", source="Orphanet:70567/e"} +xref: MESH:D018281 {source="MONDO:equivalentTo", source="Orphanet:70567", source="DOID:4947", source="EFO:0005221", source="Orphanet:70567/e"} xref: NCIT:C4436 {source="MONDO:equivalentTo", source="DOID:4947", source="EFO:0005221"} xref: NCIT:C8265 {source="DOID:4947"} -xref: OMIM:615619 {source="ORDO:70567/btnt", source="MONDO:superClassOf", source="Orphanet:70567"} +xref: OMIM:615619 {source="MONDO:superClassOf", source="Orphanet:70567", source="Orphanet:70567/btnt"} xref: ONCOTREE:CHOL {source="MONDO:equivalentTo"} xref: Orphanet:70567 {source="MONDO:equivalentTo"} xref: SCTID:312104005 {source="MONDO:equivalentTo", source="DOID:4947"} xref: SCTID:70179006 {source="DOID:4947", source="EFO:0005221"} -xref: UMLS:C0206698 {source="MONDO:equivalentTo", source="ORDO:70567/e", source="Orphanet:70567", source="DOID:4947", source="NCIT:C4436"} +xref: UMLS:C0206698 {source="MONDO:equivalentTo", source="Orphanet:70567", source="DOID:4947", source="NCIT:C4436", source="Orphanet:70567/e"} xref: UMLS:C0280725 {source="MONDO:notFoundInDiseaseSubset", source="DOID:4947"} -xref: UMLS:C0740277 {source="MONDO:subClassOf", source="ORDO:70567/e", source="Orphanet:70567"} +xref: UMLS:C0740277 {source="MONDO:subClassOf", source="Orphanet:70567", source="Orphanet:70567/e"} is_a: MONDO:0003193 {source="DOID:4947", source="MONDO:Redundant", source="NCIT:C4436"} ! bile duct adenocarcinoma is_a: MONDO:0018531 {source="MONDO:Redundant", source="Orphanet:70567", source="indirect"} ! carcinoma of liver and intrahepatic biliary tract is_a: MONDO:0018918 {source="Orphanet:70567"} ! carcinoma of gallbladder and extrahepatic biliary tract @@ -366484,13 +366322,13 @@ subset: ordo_disease {source="Orphanet:70568"} synonym: "post-transplant lymphoproliferative disorder" EXACT [NCIT:C4727] synonym: "PTLD" EXACT ABBREVIATION [Orphanet:70568] xref: GARD:0009553 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.9 {source="ORDO:70568/ntbt", source="Orphanet:70568"} +xref: ICD10CM:D47.9 {source="Orphanet:70568/ntbt", source="Orphanet:70568"} xref: ICDO:9971/1 {source="NCIT:C4727"} -xref: MedDRA:10051358 {source="ORDO:70568/e", source="Orphanet:70568"} +xref: MedDRA:10051358 {source="Orphanet:70568/e", source="Orphanet:70568"} xref: NCIT:C4727 {source="MONDO:equivalentTo"} xref: Orphanet:70568 {source="MONDO:equivalentTo"} xref: SCTID:254290004 {source="MONDO:equivalentTo"} -xref: UMLS:C0432487 {source="NCIT:C4727", source="MONDO:equivalentTo", source="ORDO:70568/e", source="Orphanet:70568"} +xref: UMLS:C0432487 {source="NCIT:C4727", source="Orphanet:70568/e", source="MONDO:equivalentTo", source="Orphanet:70568"} xref: UMLS:C2367985 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009553"} is_a: MONDO:0015760 {source="Orphanet:70568"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0017343 {source="Orphanet:70568"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder @@ -366517,13 +366355,13 @@ subset: gard_rare {source="GARD:0005962"} subset: ordo_malformation_syndrome {source="Orphanet:70589"} synonym: "BPD" EXACT ABBREVIATION [Orphanet:70589] xref: GARD:0005962 {source="MONDO:equivalentTo"} -xref: ICD10CM:P27.1 {source="ORDO:70589/e", source="Orphanet:70589"} -xref: MedDRA:10006475 {source="ORDO:70589/e", source="Orphanet:70589"} -xref: MESH:D001997 {source="MONDO:equivalentTo", source="ORDO:70589/e", source="Orphanet:70589"} +xref: ICD10CM:P27.1 {source="Orphanet:70589", source="Orphanet:70589/e"} +xref: MedDRA:10006475 {source="Orphanet:70589", source="Orphanet:70589/e"} +xref: MESH:D001997 {source="MONDO:equivalentTo", source="Orphanet:70589", source="Orphanet:70589/e"} xref: NCIT:C90599 {source="MONDO:equivalentTo"} xref: Orphanet:70589 {source="MONDO:equivalentTo"} xref: SCTID:67569000 {source="MONDO:equivalentTo"} -xref: UMLS:C0006287 {source="NCIT:C90599", source="MONDO:equivalentTo", source="ORDO:70589/e", source="Orphanet:70589"} +xref: UMLS:C0006287 {source="NCIT:C90599", source="MONDO:equivalentTo", source="Orphanet:70589", source="Orphanet:70589/e"} is_a: MONDO:0015221 {source="Orphanet:70589"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:70589"} ! respiratory malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia xsd:anyURI {source="GARD:0005962"} @@ -366549,7 +366387,7 @@ def: "Immunodeficiency due to selective anti-polysaccharide antibody deficiency subset: ordo_disease {source="Orphanet:70593"} synonym: "specific antibody deficiency" RELATED [GARD:0011903] xref: GARD:0011903 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D80.8 {source="Orphanet:70593", source="ORDO:70593/attributed", source="ORDO:70593/ntbt"} +xref: ICD10CM:D80.8 {source="Orphanet:70593/attributed", source="Orphanet:70593/ntbt", source="Orphanet:70593"} xref: Orphanet:70593 {source="MONDO:equivalentTo"} xref: SCTID:234556002 {source="MONDO:equivalentTo"} xref: UMLS:C0398711 {source="MONDO:equivalentTo"} @@ -366564,7 +366402,7 @@ synonym: "antenatal EBV infection" EXACT [Orphanet:70596] synonym: "antenatal Epstein-Barr virus infection" EXACT [Orphanet:70596] synonym: "congenital EBV infection" EXACT [Orphanet:70596] synonym: "mother-to-child transmission of Epstein-Barr virus infection" EXACT [Orphanet:70596] -xref: ICD10CM:P35.8 {source="Orphanet:70596", source="ORDO:70596/ntbt"} +xref: ICD10CM:P35.8 {source="Orphanet:70596/ntbt", source="Orphanet:70596"} xref: Orphanet:70596 {source="MONDO:equivalentTo"} xref: SCTID:716660007 {source="MONDO:equivalentTo"} xref: UMLS:C4274357 {source="MONDO:equivalentTo"} @@ -366585,27 +366423,27 @@ synonym: "plague" EXACT [] synonym: "Yersiniosis" BROAD [Orphanet:707] xref: DOID:3482 {source="MONDO:equivalentTo"} xref: ICD10CM:A20 {source="MONDO:equivalentTo", source="DOID:3482"} -xref: ICD10CM:A20.0 {source="ORDO:707/btnt", source="MONDO:superClassOf", source="Orphanet:707"} -xref: ICD10CM:A20.1 {source="ORDO:707/btnt", source="Orphanet:707"} -xref: ICD10CM:A20.2 {source="ORDO:707/btnt", source="MONDO:superClassOf", source="Orphanet:707"} -xref: ICD10CM:A20.3 {source="ORDO:707/btnt", source="Orphanet:707"} -xref: ICD10CM:A20.7 {source="ORDO:707/btnt", source="MONDO:superClassOf", source="Orphanet:707"} -xref: ICD10CM:A20.8 {source="ORDO:707/btnt", source="Orphanet:707"} -xref: ICD10CM:A20.9 {source="ORDO:707/btnt", source="Orphanet:707", source="DOID:3482"} +xref: ICD10CM:A20.0 {source="MONDO:superClassOf", source="Orphanet:707/btnt", source="Orphanet:707"} +xref: ICD10CM:A20.1 {source="Orphanet:707/btnt", source="Orphanet:707"} +xref: ICD10CM:A20.2 {source="MONDO:superClassOf", source="Orphanet:707/btnt", source="Orphanet:707"} +xref: ICD10CM:A20.3 {source="Orphanet:707/btnt", source="Orphanet:707"} +xref: ICD10CM:A20.7 {source="MONDO:superClassOf", source="Orphanet:707/btnt", source="Orphanet:707"} +xref: ICD10CM:A20.8 {source="Orphanet:707/btnt", source="Orphanet:707"} +xref: ICD10CM:A20.9 {source="Orphanet:707/btnt", source="Orphanet:707", source="DOID:3482"} xref: ICD9:020 {source="DOID:3482"} xref: ICD9:020.9 {source="DOID:3482"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10035148 {source="ORDO:707/e", source="Orphanet:707"} -xref: MedDRA:10061416 {source="ORDO:707/e", source="Orphanet:707"} -xref: MESH:D010930 {source="MONDO:equivalentTo", source="ORDO:707/e", source="Orphanet:707", source="DOID:3482"} -xref: MESH:D015009 {source="ORDO:707/e", source="Orphanet:707", source="MONDO:directSiblingOf"} +xref: MedDRA:10035148 {source="Orphanet:707/e", source="Orphanet:707"} +xref: MedDRA:10061416 {source="Orphanet:707/e", source="Orphanet:707"} +xref: MESH:D010930 {source="Orphanet:707/e", source="MONDO:equivalentTo", source="Orphanet:707", source="DOID:3482"} +xref: MESH:D015009 {source="Orphanet:707/e", source="Orphanet:707", source="MONDO:directSiblingOf"} xref: NCIT:C85015 {source="MONDO:equivalentTo", source="DOID:3482"} xref: Orphanet:707 {source="MONDO:equivalentTo"} xref: SCTID:186290009 {source="DOID:3482"} xref: SCTID:187298009 {source="DOID:3482"} xref: SCTID:58750007 {source="MONDO:equivalentTo", source="DOID:3482"} -xref: UMLS:C0032064 {source="MONDO:equivalentTo", source="ORDO:707/e", source="Orphanet:707", source="NCIT:C85015", source="DOID:3482"} -xref: UMLS:C0043407 {source="ORDO:707/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:707"} +xref: UMLS:C0032064 {source="Orphanet:707/e", source="MONDO:equivalentTo", source="Orphanet:707", source="NCIT:C85015", source="DOID:3482"} +xref: UMLS:C0043407 {source="Orphanet:707/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:707"} is_a: MONDO:0000314 {source="DOID:3482"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:3482/inferred", source="MESH:D010930/inferred", source="MONDO:Redundant", source="NCIT:C85015", source="Orphanet:707", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -366650,7 +366488,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:D69.1 {source="Orphanet:71202", source="ORDO:71202/attributed", source="ORDO:71202/ntbt"} +consider: ICD10CM:D69.1 {source="Orphanet:71202", source="Orphanet:71202/attributed", source="Orphanet:71202/ntbt"} [Term] id: MONDO:0019098 @@ -366658,11 +366496,11 @@ name: autoimmune thrombocytopenia def: "An autoimmune form of thrombocytopenia." [MONDO:patterns/autoimmune] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71203"} -xref: ICD10CM:D69.3 {source="ORDO:71203/ntbt", source="Orphanet:71203"} -xref: MedDRA:10050245 {source="ORDO:71203/e", source="Orphanet:71203"} +xref: ICD10CM:D69.3 {source="Orphanet:71203", source="Orphanet:71203/ntbt"} +xref: MedDRA:10050245 {source="Orphanet:71203", source="Orphanet:71203/e"} xref: Orphanet:71203 {source="MONDO:equivalentTo"} xref: SCTID:128091003 {source="MONDO:equivalentTo"} -xref: UMLS:C0242584 {source="ORDO:71203/e", source="MONDO:equivalentTo", source="Orphanet:71203"} +xref: UMLS:C0242584 {source="MONDO:equivalentTo", source="Orphanet:71203", source="Orphanet:71203/e"} is_a: MONDO:0007179 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! autoimmune disease intersection_of: MONDO:0002049 ! thrombocytopenia intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -366697,14 +366535,14 @@ synonym: "NMO" RELATED ABBREVIATION [GARD:0006267] xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"} xref: EFO:0004256 {source="MONDO:equivalentTo", source="DOID:8869"} xref: GARD:0006267 {source="MONDO:equivalentTo"} -xref: ICD10CM:G36.0 {source="ORDO:71211/e", source="Orphanet:71211", source="DOID:8869"} +xref: ICD10CM:G36.0 {source="Orphanet:71211", source="DOID:8869", source="Orphanet:71211/e"} xref: ICD9:341.0 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="i2s"} -xref: MedDRA:10029322 {source="ORDO:71211/e", source="Orphanet:71211"} -xref: MESH:D009471 {source="ORDO:71211/e", source="EFO:0004256", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869"} +xref: MedDRA:10029322 {source="Orphanet:71211", source="Orphanet:71211/e"} +xref: MESH:D009471 {source="EFO:0004256", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869", source="Orphanet:71211/e"} xref: NCIT:C84934 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869"} xref: Orphanet:71211 {source="MONDO:equivalentTo"} xref: SCTID:25044007 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869"} -xref: UMLS:C0027873 {source="ORDO:71211/e", source="NCIT:C84934", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869"} +xref: UMLS:C0027873 {source="NCIT:C84934", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869", source="Orphanet:71211/e"} is_a: MONDO:0005071 {source="GARD:0006267", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder is_a: MONDO:0044685 {source="Orphanet:71211", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune/inflammatory optic neuropathy relationship: excluded_subClassOf MONDO:0005301 {source="EFO:0004256"} ! multiple sclerosis @@ -366717,9 +366555,9 @@ id: MONDO:0019101 name: retinal capillary malformation def: "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." [Orphanet:71213] subset: ordo_disease {source="Orphanet:71213"} -xref: ICD10CM:D18.0 {source="Orphanet:71213", source="ORDO:71213/attributed", source="ORDO:71213/ntbt"} +xref: ICD10CM:D18.0 {source="Orphanet:71213", source="Orphanet:71213/attributed", source="Orphanet:71213/ntbt"} xref: Orphanet:71213 {source="MONDO:equivalentTo"} -xref: UMLS:C0730304 {source="ORDO:71213/e", source="MONDO:relatedTo", source="Orphanet:71213"} +xref: UMLS:C0730304 {source="MONDO:relatedTo", source="Orphanet:71213", source="Orphanet:71213/e"} is_a: MONDO:0015145 {source="Orphanet:71213"} ! neurovascular malformation is_a: MONDO:0015953 {source="Orphanet:71213", source="Orphanet:71213/inferred"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0020247 {source="Orphanet:71213"} ! congenital vitreoretinal dysplasia @@ -366744,7 +366582,7 @@ name: benign exophthalmos syndrome def: "Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." [Orphanet:71269] subset: ordo_disease {source="Orphanet:71269"} synonym: "bes" EXACT [Orphanet:71269] -xref: ICD10CM:H05.2 {source="ORDO:71269/ntbt", source="Orphanet:71269"} +xref: ICD10CM:H05.2 {source="Orphanet:71269", source="Orphanet:71269/ntbt"} xref: Orphanet:71269 {source="MONDO:equivalentTo"} xref: SCTID:719519007 {source="MONDO:equivalentTo"} xref: UMLS:C4304668 {source="MONDO:equivalentTo"} @@ -366759,12 +366597,12 @@ subset: gard_rare {source="GARD:0009684"} subset: ordo_disease {source="Orphanet:71272"} synonym: "Sandifer's syndrome" RELATED [GARD:0009684] xref: GARD:0009684 {source="MONDO:equivalentTo"} -xref: MedDRA:10066142 {source="ORDO:71272/e", source="Orphanet:71272"} -xref: MESH:C537234 {source="MONDO:equivalentTo", source="ORDO:71272/e", source="Orphanet:71272"} +xref: MedDRA:10066142 {source="Orphanet:71272/e", source="Orphanet:71272"} +xref: MESH:C537234 {source="Orphanet:71272/e", source="MONDO:equivalentTo", source="Orphanet:71272"} xref: NCIT:C113397 {source="MONDO:equivalentTo"} xref: Orphanet:71272 {source="MONDO:equivalentTo"} xref: SCTID:230314007 {source="MONDO:equivalentTo"} -xref: UMLS:C0338465 {source="MONDO:equivalentTo", source="NCIT:C113397", source="ORDO:71272/e", source="Orphanet:71272"} +xref: UMLS:C0338465 {source="Orphanet:71272/e", source="MONDO:equivalentTo", source="NCIT:C113397", source="Orphanet:71272"} is_a: MONDO:0002254 {source="NCIT:C113397"} ! syndromic disease is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted"} ! movement disorder is_a: MONDO:0015111 {source="Orphanet:71272"} ! gastroesophageal disease @@ -366780,10 +366618,10 @@ synonym: "nutcracker syndrome" RELATED [GARD:0011971] synonym: "RNS" EXACT ABBREVIATION [Orphanet:71273] xref: EFO:1001838 {source="MONDO:equivalentTo"} xref: GARD:0011971 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MESH:D059228 {source="Orphanet:71273", source="MONDO:equivalentTo", source="ORDO:71273/e"} +xref: MESH:D059228 {source="Orphanet:71273", source="MONDO:equivalentTo", source="Orphanet:71273/e"} xref: Orphanet:71273 {source="MONDO:equivalentTo"} xref: SCTID:717267005 {source="MONDO:equivalentTo"} -xref: UMLS:C3178770 {source="Orphanet:71273", source="MONDO:equivalentTo", source="ORDO:71273/e"} +xref: UMLS:C3178770 {source="Orphanet:71273", source="MONDO:equivalentTo", source="Orphanet:71273/e"} is_a: MONDO:0019721 {source="Orphanet:71273"} ! syndromic renal or urinary tract malformation relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare @@ -366811,11 +366649,11 @@ synonym: "RHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268150] synonym: "RHNR" RELATED ABBREVIATION [OMIM:268150] xref: DOID:0050641 {source="MONDO:equivalentTo"} xref: GARD:0012916 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.8 {source="Orphanet:71275", source="ORDO:71275/attributed", source="ORDO:71275/ntbt"} -xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275", source="MONDO:equivalentTo", source="ORDO:71275/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:71275/attributed", source="Orphanet:71275/ntbt", source="Orphanet:71275"} +xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275/ntbt", source="Orphanet:71275", source="MONDO:equivalentTo"} xref: Orphanet:71275 {source="MONDO:equivalentTo", source="OMIM:268150"} xref: SCTID:37272000 {source="MONDO:equivalentTo"} -xref: UMLS:C0272052 {source="Orphanet:71275", source="MONDO:equivalentTo", source="OMIM:268150", source="ORDO:71275/e"} +xref: UMLS:C0272052 {source="Orphanet:71275", source="MONDO:equivalentTo", source="Orphanet:71275/e", source="OMIM:268150"} xref: UMLS:C1849387 {source="Orphanet:71275", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:268150"} is_a: MONDO:0020102 {source="Orphanet:71275"} ! hereditary stomatocytosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10006 {source="mim2gene_medgen"} ! RHAG @@ -366847,11 +366685,11 @@ synonym: "chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold aggluti synonym: "chronic sensory ataxic neuropathy with anti-disialosyl antibodies" RELATED [GARD:0009778] synonym: "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" EXACT [Orphanet:71279] xref: GARD:0009778 {source="MONDO:equivalentTo"} -xref: ICD10CM:G61.8 {source="Orphanet:71279", source="ORDO:71279/ntbt"} -xref: MESH:C537980 {source="ORDO:71279/e", source="MONDO:equivalentTo", source="Orphanet:71279"} +xref: ICD10CM:G61.8 {source="Orphanet:71279", source="Orphanet:71279/ntbt"} +xref: MESH:C537980 {source="MONDO:equivalentTo", source="Orphanet:71279", source="Orphanet:71279/e"} xref: Orphanet:71279 {source="MONDO:equivalentTo"} xref: SCTID:715624006 {source="MONDO:equivalentTo"} -xref: UMLS:C2931684 {source="ORDO:71279/e", source="MONDO:equivalentTo", source="Orphanet:71279"} +xref: UMLS:C2931684 {source="MONDO:equivalentTo", source="Orphanet:71279", source="Orphanet:71279/e"} is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder is_a: MONDO:0015923 {source="Orphanet:71279"} ! acquired peripheral neuropathy is_a: MONDO:0016169 {source="Orphanet:71279"} ! chronic acquired demyelinating polyneuropathy @@ -366880,10 +366718,10 @@ synonym: "hereditary thrombocytosis" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thrombocytosis disease" EXACT [MONDO:patterns/hereditary] synonym: "THCYT" EXACT ABBREVIATION [MONDO:cjm] synonym: "thrombocythemia" RELATED [OMIMPS:187950] -xref: OMIM:187950 {source="MONDO:subClassOf", source="Orphanet:71493", source="MONDO:directSiblingOf", source="ORDO:71493/ntbt"} -xref: OMIM:300331 {source="Orphanet:71493", source="MONDO:superClassOf", source="ORDO:71493/btnt"} -xref: OMIM:601977 {source="MONDO:subClassOf", source="Orphanet:71493", source="MONDO:directSiblingOf", source="ORDO:71493/ntbt"} -xref: OMIM:614521 {source="MONDO:subClassOf", source="Orphanet:71493", source="MONDO:directSiblingOf", source="ORDO:71493/ntbt"} +xref: OMIM:187950 {source="MONDO:subClassOf", source="Orphanet:71493", source="Orphanet:71493/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:300331 {source="Orphanet:71493", source="Orphanet:71493/btnt", source="MONDO:superClassOf"} +xref: OMIM:601977 {source="MONDO:subClassOf", source="Orphanet:71493", source="Orphanet:71493/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:614521 {source="MONDO:subClassOf", source="Orphanet:71493", source="Orphanet:71493/ntbt", source="MONDO:directSiblingOf"} xref: OMIMPS:187950 {source="MONDO:equivalentTo"} xref: Orphanet:71493 {source="MONDO:equivalentTo"} xref: SCTID:720950009 {source="MONDO:equivalentTo"} @@ -366905,7 +366743,7 @@ xref: ICD9:362.10 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D059545 {source="MONDO:equivalentTo"} xref: Orphanet:71505 {source="MONDO:equivalentTo"} xref: SCTID:404663008 {source="MONDO:equivalentTo"} -xref: UMLS:C0730307 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:71505/e", source="Orphanet:71505"} +xref: UMLS:C0730307 {source="Orphanet:71505/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:71505"} xref: UMLS:C1321315 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:71505"} is_a: MONDO:0018215 {source="Orphanet:71505"} ! paraneoplastic neurologic syndrome intersection_of: MONDO:0005283 ! retinal disorder @@ -366917,7 +366755,7 @@ id: MONDO:0019113 name: benign paroxysmal torticollis of infancy def: "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." [Orphanet:71518] subset: ordo_disease {source="Orphanet:71518"} -xref: ICD10CM:G24.3 {source="ORDO:71518/attributed", source="ORDO:71518/ntbt", source="Orphanet:71518"} +xref: ICD10CM:G24.3 {source="Orphanet:71518/attributed", source="Orphanet:71518/ntbt", source="Orphanet:71518"} xref: Orphanet:71518 {source="MONDO:equivalentTo"} xref: SCTID:719521002 {source="MONDO:equivalentTo"} xref: UMLS:CN205631 {source="MONDO:equivalentTo"} @@ -366929,10 +366767,10 @@ name: psychogenic movement disorders def: "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." [Orphanet:71519] subset: ordo_clinical_syndrome {source="Orphanet:71519"} synonym: "psychogenic dystonia" EXACT [Orphanet:71519] -xref: ICD10CM:F44.4 {source="ORDO:71519/ntbt", source="Orphanet:71519"} -xref: MedDRA:10072376 {source="ORDO:71519/e", source="Orphanet:71519"} +xref: ICD10CM:F44.4 {source="Orphanet:71519/ntbt", source="Orphanet:71519"} +xref: MedDRA:10072376 {source="Orphanet:71519/e", source="Orphanet:71519"} xref: Orphanet:71519 {source="MONDO:equivalentTo"} -xref: UMLS:C3267131 {source="MONDO:equivalentTo", source="ORDO:71519/e", source="Orphanet:71519"} +xref: UMLS:C3267131 {source="Orphanet:71519/e", source="MONDO:equivalentTo", source="Orphanet:71519"} is_a: MONDO:0005395 {source="Orphanet:71519"} ! movement disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015143"} ! rare @@ -366942,9 +366780,9 @@ name: obesity due to melanocortin 4 receptor deficiency def: "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." [Orphanet:71529] subset: ordo_malformation_syndrome {source="Orphanet:71529"} synonym: "MC4R deficiency" EXACT [Orphanet:71529] -xref: ICD10CM:E66.8 {source="ORDO:71529/attributed", source="ORDO:71529/ntbt", source="Orphanet:71529"} +xref: ICD10CM:E66.8 {source="Orphanet:71529/attributed", source="Orphanet:71529/ntbt", source="Orphanet:71529"} xref: NCIT:C120394 {source="MONDO:equivalentTo"} -xref: OMIM:601665 {source="MONDO:subClassOf", source="ORDO:71529/ntbt", source="Orphanet:71529"} +xref: OMIM:601665 {source="MONDO:subClassOf", source="Orphanet:71529/ntbt", source="Orphanet:71529"} xref: Orphanet:71529 {source="MONDO:equivalentTo"} xref: SCTID:717269008 {source="MONDO:equivalentTo"} xref: UMLS:C4273958 {source="MONDO:equivalentTo"} @@ -367003,8 +366841,8 @@ xref: ICD9:362.7 {source="DOID:8500"} xref: ICD9:362.70 {source="DOID:8500", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:362.72 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:362.75 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10038857 {source="ORDO:71862/e", source="Orphanet:71862"} -xref: MESH:D058499 {source="DOID:8501", source="ORDO:71862/e", source="MONDO:equivalentTo", source="Orphanet:71862"} +xref: MedDRA:10038857 {source="Orphanet:71862", source="Orphanet:71862/e"} +xref: MESH:D058499 {source="DOID:8501", source="MONDO:equivalentTo", source="Orphanet:71862", source="Orphanet:71862/e"} xref: NCIT:C35194 {source="DOID:8500", source="MONDO:equivalentTo"} xref: NCIT:C35625 {source="DOID:8501", source="MONDO:equivalentTo"} xref: Orphanet:71862 {source="MONDO:equivalentTo"} @@ -367014,7 +366852,7 @@ xref: SCTID:267615006 {source="DOID:8500"} xref: SCTID:314407005 {source="DOID:8501", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:41799005 {source="DOID:8500", source="MONDO:equivalentTo"} xref: UMLS:C0154860 {source="DOID:8500", source="NCIT:C35194", source="MONDO:equivalentTo"} -xref: UMLS:C0854723 {source="DOID:8501", source="ORDO:71862/e", source="MONDO:equivalentTo", source="Orphanet:71862", source="NCIT:C35625"} +xref: UMLS:C0854723 {source="DOID:8501", source="MONDO:equivalentTo", source="Orphanet:71862", source="NCIT:C35625", source="Orphanet:71862/e"} is_a: MONDO:0020238 {source="Orphanet:71862"} ! inherited vitreous-retinal disease intersection_of: MONDO:0004580 ! retinal degeneration intersection_of: has_modifier MONDO:0021152 ! inherited @@ -367040,7 +366878,7 @@ id: MONDO:0019120 name: pili bifurcati def: "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." [Orphanet:720] subset: ordo_disease {source="Orphanet:720"} -xref: ICD10CM:L67.8 {source="Orphanet:720", source="ORDO:720/attributed", source="ORDO:720/ntbt"} +xref: ICD10CM:L67.8 {source="Orphanet:720", source="Orphanet:720/attributed", source="Orphanet:720/ntbt"} xref: Orphanet:720 {source="MONDO:equivalentTo"} xref: SCTID:717360009 {source="MONDO:equivalentTo"} is_a: MONDO:0019281 {source="Orphanet:720"} ! isolated genetic hair shaft abnormality @@ -367064,8 +366902,8 @@ xref: DOID:11339 {source="EFO:0007448", source="MONDO:equivalentTo"} xref: EFO:0007448 {source="MONDO:equivalentTo"} xref: GARD:0004386 {source="MONDO:equivalentTo"} xref: ICD10CM:B59 {source="DOID:11339", source="MONDO:equivalentTo"} -xref: ICD10EXP:B59+ {source="ORDO:723/e", source="Orphanet:723"} -xref: ICD10EXP:J17.3* {source="Orphanet:723", source="ORDO:723/ntbt"} +xref: ICD10EXP:B59+ {source="Orphanet:723", source="Orphanet:723/e"} +xref: ICD10EXP:J17.3* {source="Orphanet:723/ntbt", source="Orphanet:723"} xref: ICD9:136.3 {source="DOID:11339"} xref: MESH:D011020 {source="DOID:11339", source="EFO:0007448", source="MONDO:equivalentTo"} xref: NCIT:C3334 {source="DOID:11339", source="MONDO:equivalentTo"} @@ -367099,7 +366937,7 @@ synonym: "pulmonary infiltrates with eosinophilia" RELATED [GARD:0000107] xref: DOID:9503 {source="MONDO:equivalentTo"} xref: GARD:0000107 {source="MONDO:equivalentTo"} xref: GARD:0000519 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:J82 {source="DOID:9503", source="Orphanet:724", source="ORDO:724/ntbt"} +xref: ICD10CM:J82 {source="Orphanet:724/ntbt", source="DOID:9503", source="Orphanet:724"} xref: MESH:D011657 {source="MONDO:subClassOf", source="DOID:9503"} xref: NCIT:C35301 {source="DOID:9503", source="MONDO:equivalentTo"} xref: Orphanet:724 {source="MONDO:equivalentTo"} @@ -367122,7 +366960,7 @@ synonym: "continuous spikes and waves during slow-wave sleep" EXACT [Orphanet:72 synonym: "CSWS" EXACT ABBREVIATION [Orphanet:725] synonym: "CSWSS syndrome" EXACT [Orphanet:725] synonym: "epileptic encephalopathy with continuous spike-and-wave during slow sleep" EXACT [Orphanet:725] -xref: OMIM:245570 {source="MONDO:subClassOf", source="Orphanet:725", source="ORDO:725/ntbt"} +xref: OMIM:245570 {source="MONDO:subClassOf", source="Orphanet:725", source="Orphanet:725/ntbt"} xref: Orphanet:725 {source="MONDO:equivalentTo"} xref: UMLS:C3806403 {source="MONDO:equivalentTo"} xref: UMLS:CN181337 {source="MONDO:equivalentTo"} @@ -367141,13 +366979,13 @@ synonym: "microscopic polyarteritis" EXACT [Orphanet:727] synonym: "MPA" EXACT ABBREVIATION [Orphanet:727] xref: EFO:1000784 {source="MONDO:equivalentTo"} xref: GARD:0003652 {source="MONDO:equivalentTo"} -xref: ICD10CM:M31.7 {source="ORDO:727/e", source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727"} -xref: MedDRA:10063344 {source="ORDO:727/e", source="EFO:1000784", source="Orphanet:727"} -xref: MESH:D055953 {source="ORDO:727/e", source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727"} +xref: ICD10CM:M31.7 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} +xref: MedDRA:10063344 {source="EFO:1000784", source="Orphanet:727", source="Orphanet:727/e"} +xref: MESH:D055953 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} xref: NCIT:C70549 {source="MONDO:equivalentTo"} xref: Orphanet:727 {source="EFO:1000784", source="MONDO:equivalentTo"} xref: SCTID:239928004 {source="MONDO:equivalentTo"} -xref: UMLS:C0343192 {source="ORDO:727/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:727"} +xref: UMLS:C0343192 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:727", source="Orphanet:727/e"} xref: UMLS:C2347126 {source="MONDO:equivalentTo", source="NCIT:C70549"} is_a: MONDO:0015492 {source="MESH:D055953", source="Orphanet:727"} ! Anti-neutrophil cytoplasmic antibody-associated vasculitis is_a: MONDO:0019724 {source="Orphanet:727"} ! secondary glomerular disease @@ -367166,16 +367004,16 @@ synonym: "recurrent polychondritis" RELATED [GARD:0007417] xref: DOID:2556 {source="MONDO:equivalentTo", source="EFO:1001148"} xref: EFO:1001148 {source="MONDO:equivalentTo"} xref: GARD:0007417 {source="MONDO:equivalentTo"} -xref: ICD10CM:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="ORDO:728/e", source="Orphanet:728", source="EFO:1001148"} +xref: ICD10CM:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10038304 {source="ORDO:728/e", source="Orphanet:728", source="EFO:1001148"} -xref: MESH:D011081 {source="DOID:2556", source="MONDO:equivalentTo", source="ORDO:728/e", source="Orphanet:728", source="EFO:1001148"} +xref: MedDRA:10038304 {source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} +xref: MESH:D011081 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} xref: NCIT:C157268 {source="MONDO:equivalentTo"} xref: Orphanet:728 {source="MONDO:equivalentTo"} xref: SCTID:111256009 {source="DOID:2556"} xref: SCTID:72275000 {source="DOID:2556", source="MONDO:equivalentTo", source="EFO:1001148"} xref: SCTID:85780006 {source="DOID:2556"} -xref: UMLS:C0032453 {source="DOID:2556", source="MONDO:equivalentTo", source="ORDO:728/e", source="Orphanet:728"} +xref: UMLS:C0032453 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="Orphanet:728/e"} is_a: MONDO:0002342 {source="DOID:2556", source="linkedlifedata"} ! chondromalacia is_a: MONDO:0019724 {source="Orphanet:728"} ! secondary glomerular disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis xsd:anyURI {source="GARD:0007417"} @@ -367200,14 +367038,14 @@ synonym: "PM" EXACT ABBREVIATION [Orphanet:732] synonym: "polymyositis" EXACT [MONDO:0005234] xref: EFO:0003063 {source="MONDO:equivalentTo"} xref: GARD:0007425 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="ORDO:732/e"} +xref: ICD10CM:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e"} xref: ICD9:710.4 {source="MONDO:equivalentTo", source="i2s", source="EFO:0003063"} -xref: MedDRA:10036102 {source="Orphanet:732", source="ORDO:732/e"} -xref: MESH:D017285 {source="Orphanet:732", source="MONDO:equivalentTo", source="EFO:0003063", source="ORDO:732/e"} +xref: MedDRA:10036102 {source="Orphanet:732", source="Orphanet:732/e"} +xref: MESH:D017285 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e", source="EFO:0003063"} xref: NCIT:C26925 {source="MONDO:equivalentTo", source="EFO:0003063"} xref: Orphanet:732 {source="MONDO:equivalentTo"} xref: SCTID:31384009 {source="MONDO:equivalentTo", source="EFO:0003063"} -xref: UMLS:C0085655 {source="Orphanet:732", source="MONDO:equivalentTo", source="ORDO:732/e", source="NCIT:C26925"} +xref: UMLS:C0085655 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e", source="NCIT:C26925"} xref: Wikipedia:Polymyositis {source="EFO:0003063"} is_a: MONDO:0019724 {source="Orphanet:732"} ! secondary glomerular disease is_a: MONDO:0020122 {source="Orphanet:732"} ! acquired idiopathic inflammatory myopathy @@ -367223,10 +367061,10 @@ synonym: "aplasia of the Müllerian ducts" EXACT [Orphanet:73217] synonym: "Mullerian duct failure" EXACT [Orphanet:73217] synonym: "Müllerian aplasia" RELATED [Orphanet:73217] synonym: "Müllerian duct failure" EXACT [Orphanet:73217] -xref: MESH:C537371 {source="ORDO:73217/e", source="MONDO:equivalentTo", source="Orphanet:73217"} +xref: MESH:C537371 {source="MONDO:equivalentTo", source="Orphanet:73217", source="Orphanet:73217/e"} xref: Orphanet:73217 {source="MONDO:equivalentTo"} xref: SCTID:253828000 {source="MONDO:equivalentTo"} -xref: UMLS:C0431637 {source="ORDO:73217/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:73217"} +xref: UMLS:C0431637 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:73217", source="Orphanet:73217/e"} is_a: MONDO:0002263 {source="MONDO:Redundant", source="Orphanet:73217"} ! female reproductive system disorder is_a: MONDO:0015828 {source="Orphanet:73217/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! uterovaginal malformation is_a: MONDO:0021145 {source="Orphanet:73217", source="Orphanet:73217/inferred"} ! disorder of genitourinary system @@ -367238,7 +367076,7 @@ id: MONDO:0019129 name: global developmental delay-osteopenia-ectodermal defect syndrome def: "This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies." [Orphanet:73223] subset: ordo_malformation_syndrome {source="Orphanet:73223"} -xref: ICD10CM:Q87.8 {source="Orphanet:73223", source="ORDO:73223/attributed", source="ORDO:73223/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:73223", source="Orphanet:73223/attributed", source="Orphanet:73223/ntbt"} xref: Orphanet:73223 {source="MONDO:equivalentTo"} xref: SCTID:717813005 {source="MONDO:equivalentTo"} xref: UMLS:CN227576 {source="MONDO:equivalentTo"} @@ -367250,7 +367088,7 @@ id: MONDO:0019130 name: tubular renal disease-cardiomyopathy syndrome def: "A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." [Orphanet:73224] subset: ordo_disease {source="Orphanet:73224"} -xref: ICD10CM:N25.8 {source="Orphanet:73224", source="ORDO:73224/attributed", source="ORDO:73224/ntbt"} +xref: ICD10CM:N25.8 {source="Orphanet:73224/attributed", source="Orphanet:73224/ntbt", source="Orphanet:73224"} xref: Orphanet:73224 {source="MONDO:equivalentTo"} xref: UMLS:CN205654 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="Orphanet:73224"} ! syndromic disease @@ -367263,7 +367101,7 @@ id: MONDO:0019131 name: ossification anomalies-psychomotor developmental delay syndrome def: "Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification." [Orphanet:73230] subset: ordo_disease {source="Orphanet:73230"} -xref: ICD10CM:Q79.8 {source="ORDO:73230/attributed", source="ORDO:73230/ntbt", source="Orphanet:73230"} +xref: ICD10CM:Q79.8 {source="Orphanet:73230/attributed", source="Orphanet:73230/ntbt", source="Orphanet:73230"} xref: Orphanet:73230 {source="MONDO:equivalentTo"} xref: UMLS:CN227577 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="Orphanet:73230"} ! syndromic intellectual disability @@ -367276,7 +367114,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare id: MONDO:0019132 name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome subset: ordo_malformation_syndrome {source="Orphanet:73245"} -xref: ICD10CM:G12.8 {source="Orphanet:73245", source="ORDO:73245/attributed", source="ORDO:73245/ntbt"} +xref: ICD10CM:G12.8 {source="Orphanet:73245", source="Orphanet:73245/attributed", source="Orphanet:73245/ntbt"} xref: Orphanet:73245 {source="MONDO:equivalentTo"} xref: UMLS:CN205656 {source="MONDO:equivalentTo"} is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy @@ -367288,7 +367126,7 @@ id: MONDO:0019133 name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome def: "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." [Orphanet:73246] subset: ordo_malformation_syndrome {source="Orphanet:73246"} -xref: ICD10CM:Q87.8 {source="Orphanet:73246", source="ORDO:73246/attributed", source="ORDO:73246/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:73246/attributed", source="Orphanet:73246/ntbt", source="Orphanet:73246"} xref: Orphanet:73246 {source="MONDO:equivalentTo"} xref: UMLS:CN205657 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:73246", source="indirect"} ! syndromic intellectual disability @@ -367314,7 +367152,7 @@ xref: ONCOTREE:CNC {source="MONDO:equivalentTo"} xref: Orphanet:73256 {source="MONDO:equivalentTo"} xref: SCTID:128858006 {source="DOID:14174"} xref: SCTID:302832007 {source="DOID:14174"} -xref: UMLS:C0206719 {source="ORDO:73256/e", source="Orphanet:73256", source="NCIT:C3791", source="MONDO:equivalentTo", source="DOID:14174"} +xref: UMLS:C0206719 {source="Orphanet:73256", source="NCIT:C3791", source="MONDO:equivalentTo", source="DOID:14174", source="Orphanet:73256/e"} is_a: MONDO:0002682 {source="DOID:14174", source="EFO:1000856", source="NCIT:C3791"} ! cerebral ventricle cancer is_a: MONDO:0016726 {source="Orphanet:73256"} ! neuronal tumor is_a: MONDO:0016729 {source="NCIT:C3791"} ! mixed neuronal-glial tumor @@ -367340,25 +367178,25 @@ xref: DOID:8485 {source="EFO:0007380", source="MONDO:equivalentTo", source="MOND xref: EFO:0007380 {source="MONDO:equivalentTo"} xref: GARD:0010224 {source="MONDO:equivalentTo"} xref: ICD10CM:B46 {source="MONDO:equivalentTo"} -xref: ICD10CM:B46.0 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.1 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.2 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.3 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.4 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.5 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.8 {source="ORDO:73263/btnt", source="Orphanet:73263"} -xref: ICD10CM:B46.9 {source="ORDO:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.0 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.1 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.2 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.3 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.4 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.5 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.8 {source="Orphanet:73263/btnt", source="Orphanet:73263"} +xref: ICD10CM:B46.9 {source="Orphanet:73263/btnt", source="Orphanet:73263"} xref: ICD9:117.7 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028098 {source="ORDO:73263/e", source="Orphanet:73263"} -xref: MedDRA:10061418 {source="ORDO:73263/e", source="Orphanet:73263"} -xref: MESH:D009091 {source="MONDO:relatedTo", source="EFO:0007380", source="MONDO:equivalentTo", source="ORDO:73263/e", source="Orphanet:73263"} -xref: MESH:D020096 {source="MONDO:equivalentTo", source="ORDO:73263/e", source="Orphanet:73263"} +xref: MedDRA:10028098 {source="Orphanet:73263/e", source="Orphanet:73263"} +xref: MedDRA:10061418 {source="Orphanet:73263/e", source="Orphanet:73263"} +xref: MESH:D009091 {source="MONDO:relatedTo", source="Orphanet:73263/e", source="EFO:0007380", source="MONDO:equivalentTo", source="Orphanet:73263"} +xref: MESH:D020096 {source="Orphanet:73263/e", source="MONDO:equivalentTo", source="Orphanet:73263"} xref: NCIT:C77212 {source="MONDO:equivalentTo"} xref: Orphanet:73263 {source="MONDO:equivalentTo"} xref: SCTID:59277005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:76627001 {source="MONDO:equivalentTo"} -xref: UMLS:C0026718 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:73263/e", source="Orphanet:73263"} -xref: UMLS:C0043541 {source="MONDO:equivalentTo", source="NCIT:C77212", source="ORDO:73263/e", source="Orphanet:73263"} +xref: UMLS:C0026718 {source="Orphanet:73263/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:73263"} +xref: UMLS:C0043541 {source="Orphanet:73263/e", source="MONDO:equivalentTo", source="NCIT:C77212", source="Orphanet:73263"} is_a: MONDO:0002041 {source="ICD10CM:B46", source="MESH:D020096", source="MONDO:Redundant", source="NCIT:C77212", source="Orphanet:73263", source="indirect", source="linkedlifedata"} ! fungal infectious disease is_a: MONDO:0005550 {source="EFO:0007380", source="NCIT:C77212/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -367378,7 +367216,7 @@ synonym: "hypernychthemeral syndrome" EXACT [https://www.circadiansleepdisorders synonym: "non 24 hour sleep wake disorder" RELATED [GARD:0010949] synonym: "non-24" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24] xref: GARD:0010949 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G47.2 {source="MONDO:subClassOf", source="Orphanet:73267", source="ORDO:73267/ntbt"} +xref: ICD10CM:G47.2 {source="MONDO:subClassOf", source="Orphanet:73267", source="Orphanet:73267/ntbt"} xref: ICD10CM:G47.24 {source="MONDO:equivalentTo"} xref: Orphanet:73267 {source="MONDO:equivalentTo"} xref: SCTID:230496009 {source="MONDO:equivalentTo"} @@ -367392,9 +367230,9 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0019045"} ! rare id: MONDO:0019138 name: bleeding diathesis due to a collagen receptor defect subset: ordo_disease {source="Orphanet:73271"} -xref: ICD10CM:D69.8 {source="ORDO:73271/attributed", source="ORDO:73271/ntbt", source="Orphanet:73271"} -xref: OMIM:614200 {source="ORDO:73271/btnt", source="MONDO:superClassOf", source="Orphanet:73271"} -xref: OMIM:614201 {source="ORDO:73271/btnt", source="MONDO:superClassOf", source="Orphanet:73271"} +xref: ICD10CM:D69.8 {source="Orphanet:73271/attributed", source="Orphanet:73271/ntbt", source="Orphanet:73271"} +xref: OMIM:614200 {source="MONDO:superClassOf", source="Orphanet:73271/btnt", source="Orphanet:73271"} +xref: OMIM:614201 {source="MONDO:superClassOf", source="Orphanet:73271/btnt", source="Orphanet:73271"} xref: Orphanet:73271 {source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder @@ -367409,11 +367247,11 @@ synonym: "acquired hemophilia" EXACT [MONDO:patterns/acquired] synonym: "hemophilia, acquired" RELATED [GARD:0010350] xref: GARD:0010350 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:D68.311 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.4 {source="ORDO:73274/e", source="Orphanet:73274"} -xref: MedDRA:10053745 {source="ORDO:73274/e", source="Orphanet:73274"} +xref: ICD10CM:D68.4 {source="Orphanet:73274/e", source="Orphanet:73274"} +xref: MedDRA:10053745 {source="Orphanet:73274/e", source="Orphanet:73274"} xref: MESH:C536392 {source="MONDO:equivalentTo"} xref: Orphanet:73274 {source="MONDO:equivalentTo"} -xref: UMLS:C1096116 {source="MONDO:equivalentTo", source="ORDO:73274/e", source="Orphanet:73274"} +xref: UMLS:C1096116 {source="Orphanet:73274/e", source="MONDO:equivalentTo", source="Orphanet:73274"} is_a: MONDO:0002243 {source="MONDO:0015662-obsoleted"} ! hemorrhagic disease intersection_of: MONDO:0018660 ! hemophilia intersection_of: has_modifier MONDO:0021141 ! acquired @@ -367428,7 +367266,7 @@ synonym: "acute intoxication by Blighia sapida" EXACT [Orphanet:73423] synonym: "Jamaican vomiting sickness" EXACT [Orphanet:73423] synonym: "Jamaican vomiting syndrome" EXACT [Orphanet:73423] xref: GARD:0009299 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:T62.2 {source="Orphanet:73423", source="ORDO:73423/ntbt"} +xref: ICD10CM:T62.2 {source="Orphanet:73423/ntbt", source="Orphanet:73423"} xref: ICD9:988.2 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537562 {source="MONDO:equivalentTo"} xref: Orphanet:73423 {source="MONDO:equivalentTo"} @@ -367443,10 +367281,10 @@ name: porokeratosis of Mibelli def: "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." [Orphanet:735] subset: ordo_disease {source="Orphanet:735"} xref: GARD:0004438 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:735", source="ORDO:735/attributed", source="ORDO:735/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:735/attributed", source="Orphanet:735/ntbt", source="Orphanet:735"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:175800 {source="Orphanet:735", source="MONDO:superClassOf", source="ORDO:735/btnt"} -xref: OMIM:175900 {source="Orphanet:735", source="MONDO:superClassOf", source="ORDO:735/btnt"} +xref: OMIM:175800 {source="Orphanet:735/btnt", source="Orphanet:735", source="MONDO:superClassOf"} +xref: OMIM:175900 {source="Orphanet:735/btnt", source="Orphanet:735", source="MONDO:superClassOf"} xref: Orphanet:735 {source="MONDO:equivalentTo"} xref: SCTID:80432009 {source="MONDO:equivalentTo"} xref: UMLS:C0949506 {source="Orphanet:735", source="MONDO:equivalentTo"} @@ -367471,14 +367309,14 @@ synonym: "porphyria" BROAD [DOID:13268] synonym: "Porphyrinopathy" RELATED [DOID:13268] xref: DOID:13268 {source="MONDO:equivalentTo"} xref: GARD:0010353 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.0 {source="ORDO:738/specific", source="ORDO:738/btnt", source="Orphanet:738"} -xref: ICD10CM:E80.1 {source="ORDO:738/specific", source="ORDO:738/btnt", source="Orphanet:738"} -xref: ICD10CM:E80.2 {source="ORDO:738/specific", source="ORDO:738/btnt", source="Orphanet:738"} +xref: ICD10CM:E80.0 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} +xref: ICD10CM:E80.1 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} +xref: ICD10CM:E80.2 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} xref: ICD10CM:E80.20 {source="MONDO:ICD_NOS", source="DOID:13268"} xref: ICD9:277.1 {source="DOID:13268"} -xref: MedDRA:10036181 {source="ORDO:738/e", source="Orphanet:738"} -xref: MedDRA:10061356 {source="ORDO:738/e", source="Orphanet:738"} -xref: MESH:D011164 {source="ORDO:738/e", source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268"} +xref: MedDRA:10036181 {source="Orphanet:738", source="Orphanet:738/e"} +xref: MedDRA:10061356 {source="Orphanet:738", source="Orphanet:738/e"} +xref: MESH:D011164 {source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268", source="Orphanet:738/e"} xref: NCIT:C97096 {source="MONDO:equivalentTo", source="DOID:13268"} xref: Orphanet:738 {source="MONDO:equivalentTo"} xref: SCTID:154768004 {source="DOID:13268"} @@ -367490,7 +367328,7 @@ xref: SCTID:29094004 {source="MONDO:subClassOf", source="DOID:13268"} xref: SCTID:371628009 {source="MONDO:equivalentTo", source="DOID:13268"} xref: SCTID:418470004 {source="MONDO:relatedTo", source="DOID:13268"} xref: SCTID:86292002 {source="DOID:13268"} -xref: UMLS:C0032708 {source="NCIT:C97096", source="ORDO:738/e", source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268"} +xref: UMLS:C0032708 {source="NCIT:C97096", source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268", source="Orphanet:738/e"} xref: UMLS:C0235387 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:738"} is_a: MONDO:0005066 {source="DOID:13268/inferred", source="MESH:D011164", source="MONDO:Redundant", source="NCIT:C97096", source="Orphanet:738/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder @@ -367510,15 +367348,15 @@ subset: gard_rare {source="GARD:0000683"} subset: ordo_disease {source="Orphanet:74"} xref: DOID:0050256 {source="MONDO:equivalentTo"} xref: GARD:0000683 {source="MONDO:equivalentTo"} -xref: ICD10CM:B81.3 {source="ORDO:74/btnt", source="Orphanet:74"} -xref: ICD10CM:B83.2 {source="ORDO:74/btnt", source="Orphanet:74"} +xref: ICD10CM:B81.3 {source="Orphanet:74/btnt", source="Orphanet:74"} +xref: ICD10CM:B83.2 {source="Orphanet:74/btnt", source="Orphanet:74"} xref: ICD9:128.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10069517 {source="Orphanet:74", source="ORDO:74/e"} -xref: MESH:C536369 {source="MONDO:equivalentTo", source="Orphanet:74", source="ORDO:74/e"} +xref: MedDRA:10069517 {source="Orphanet:74/e", source="Orphanet:74"} +xref: MESH:C536369 {source="Orphanet:74/e", source="MONDO:equivalentTo", source="Orphanet:74"} xref: NCIT:C128394 {source="MONDO:equivalentTo"} xref: Orphanet:74 {source="MONDO:equivalentTo"} xref: SCTID:61750000 {source="MONDO:equivalentTo"} -xref: UMLS:C0392662 {source="MONDO:equivalentTo", source="NCIT:C128394", source="Orphanet:74", source="ORDO:74/e"} +xref: UMLS:C0392662 {source="Orphanet:74/e", source="MONDO:equivalentTo", source="NCIT:C128394", source="Orphanet:74"} is_a: MONDO:0004664 {source="DOID:0050256", source="MESH:C536369/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005135 {source="DOID:0050256/inferred", source="MESH:C536369/inferred", source="MONDO:Redundant", source="NCIT:C128394", source="Orphanet:74", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infectious disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare @@ -367532,9 +367370,9 @@ subset: ordo_disease {source="Orphanet:743"} synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [Orphanet:743] synonym: "hereditary thrombophilia due to congenital protein S deficiency" EXACT CLINGEN_PREFERRED [] synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [Orphanet:743] -xref: ICD10CM:D68.5 {source="Orphanet:743", source="ORDO:743/attributed", source="ORDO:743/ntbt"} -xref: OMIM:612336 {source="Orphanet:743", source="MONDO:superClassOf", source="ORDO:743/btnt"} -xref: OMIM:614514 {source="Orphanet:743", source="MONDO:superClassOf", source="ORDO:743/btnt"} +xref: ICD10CM:D68.5 {source="Orphanet:743/attributed", source="Orphanet:743/ntbt", source="Orphanet:743"} +xref: OMIM:612336 {source="Orphanet:743/btnt", source="Orphanet:743", source="MONDO:superClassOf"} +xref: OMIM:614514 {source="Orphanet:743/btnt", source="Orphanet:743", source="MONDO:superClassOf"} xref: Orphanet:743 {source="MONDO:equivalentTo"} is_a: MONDO:0002304 {source="MONDO:cjm"} ! protein S deficiency is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular necrosis @@ -367556,13 +367394,13 @@ synonym: "protein C deficiency" EXACT [MONDO:0002767] synonym: "Protein C deficiency disease" EXACT [NCIT:C99025] synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [Orphanet:745] xref: DOID:3756 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.2 {source="Orphanet:745", source="ORDO:745/attributed", source="ORDO:745/ntbt"} +xref: ICD10CM:D68.2 {source="Orphanet:745/attributed", source="Orphanet:745/ntbt", source="Orphanet:745"} xref: ICD10CM:D68.59 {source="DOID:3756"} xref: MESH:C535424 {source="MONDO:equivalentTo"} xref: MESH:D020151 {source="MONDO:equivalentTo", source="DOID:3756"} xref: NCIT:C99025 {source="MONDO:equivalentTo", source="DOID:3756"} -xref: OMIM:176860 {source="Orphanet:745", source="MONDO:superClassOf", source="ORDO:745/btnt"} -xref: OMIM:612304 {source="Orphanet:745", source="MONDO:superClassOf", source="ORDO:745/btnt"} +xref: OMIM:176860 {source="Orphanet:745/btnt", source="Orphanet:745", source="MONDO:superClassOf"} +xref: OMIM:612304 {source="Orphanet:745/btnt", source="Orphanet:745", source="MONDO:superClassOf"} xref: Orphanet:745 {source="MONDO:equivalentTo"} xref: SCTID:76407009 {source="MONDO:equivalentTo", source="DOID:3756"} xref: UMLS:C0398625 {source="Orphanet:745", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C99025", source="DOID:3756"} @@ -367588,7 +367426,7 @@ synonym: "MSMD" EXACT ABBREVIATION [Orphanet:748] synonym: "Mycobacterium caused genetic susceptibility to infections due to particular pathogens" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium genetic susceptibility to infections due to particular pathogens" EXACT [] xref: GARD:0012977 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D84.8 {source="ORDO:748/attributed", source="ORDO:748/ntbt", source="Orphanet:748"} +xref: ICD10CM:D84.8 {source="Orphanet:748", source="Orphanet:748/attributed", source="Orphanet:748/ntbt"} xref: Orphanet:748 {source="MONDO:equivalentTo"} xref: UMLS:C3266863 {source="MONDO:equivalentTo", source="Orphanet:748"} xref: UMLS:CN181681 {source="MONDO:equivalentTo"} @@ -367609,16 +367447,16 @@ synonym: "myiasis, unspecified" EXACT [DOID:11080] xref: DOID:11080 {source="EFO:0007389", source="MONDO:equivalentTo"} xref: EFO:0007389 {source="MONDO:equivalentTo"} xref: ICD10CM:B87 {source="DOID:11080"} -xref: ICD10CM:B87.0 {source="ORDO:75110/btnt", source="MONDO:superClassOf", source="Orphanet:75110"} -xref: ICD10CM:B87.1 {source="ORDO:75110/btnt", source="MONDO:superClassOf", source="Orphanet:75110"} -xref: ICD10CM:B87.2 {source="ORDO:75110/btnt", source="Orphanet:75110"} -xref: ICD10CM:B87.3 {source="ORDO:75110/btnt", source="Orphanet:75110"} -xref: ICD10CM:B87.4 {source="ORDO:75110/btnt", source="Orphanet:75110"} -xref: ICD10CM:B87.8 {source="ORDO:75110/btnt", source="Orphanet:75110"} -xref: ICD10CM:B87.9 {source="ORDO:75110/btnt", source="DOID:11080", source="Orphanet:75110"} +xref: ICD10CM:B87.0 {source="Orphanet:75110/btnt", source="MONDO:superClassOf", source="Orphanet:75110"} +xref: ICD10CM:B87.1 {source="Orphanet:75110/btnt", source="MONDO:superClassOf", source="Orphanet:75110"} +xref: ICD10CM:B87.2 {source="Orphanet:75110/btnt", source="Orphanet:75110"} +xref: ICD10CM:B87.3 {source="Orphanet:75110/btnt", source="Orphanet:75110"} +xref: ICD10CM:B87.4 {source="Orphanet:75110/btnt", source="Orphanet:75110"} +xref: ICD10CM:B87.8 {source="Orphanet:75110/btnt", source="Orphanet:75110"} +xref: ICD10CM:B87.9 {source="DOID:11080", source="Orphanet:75110/btnt", source="Orphanet:75110"} xref: ICD9:134.0 {source="DOID:11080", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028586 {source="ORDO:75110/e", source="Orphanet:75110"} -xref: MESH:D009198 {source="EFO:0007389", source="DOID:11080", source="MONDO:equivalentTo", source="ORDO:75110/e", source="Orphanet:75110"} +xref: MedDRA:10028586 {source="Orphanet:75110/e", source="Orphanet:75110"} +xref: MESH:D009198 {source="EFO:0007389", source="DOID:11080", source="Orphanet:75110/e", source="MONDO:equivalentTo", source="Orphanet:75110"} xref: NCIT:C128400 {source="MONDO:equivalentTo"} xref: Orphanet:75110 {source="MONDO:equivalentTo"} xref: SCTID:154423006 {source="DOID:11080"} @@ -367626,7 +367464,7 @@ xref: SCTID:187224004 {source="DOID:11080"} xref: SCTID:187547004 {source="DOID:11080"} xref: SCTID:266225001 {source="DOID:11080"} xref: SCTID:60412004 {source="DOID:11080", source="MONDO:equivalentTo"} -xref: UMLS:C0027030 {source="DOID:11080", source="NCIT:C128400", source="MONDO:equivalentTo", source="ORDO:75110/e", source="Orphanet:75110"} +xref: UMLS:C0027030 {source="DOID:11080", source="NCIT:C128400", source="Orphanet:75110/e", source="MONDO:equivalentTo", source="Orphanet:75110"} is_a: MONDO:0002875 {source="DOID:11080", source="MESH:D009198"} ! parasitic ectoparasitic infectious disease is_a: MONDO:0005135 {source="DOID:11080/inferred", source="EFO:0007389", source="MESH:D009198/inferred", source="MONDO:Redundant", source="NCIT:C128400", source="Orphanet:75110", source="indirect", source="linkedlifedata"} ! parasitic infectious disease relationship: disease_has_infectious_agent NCBITaxon:7147 ! Diptera @@ -367653,18 +367491,18 @@ synonym: "Wolman's or triglyceride storage type III disease" EXACT [DOID:14497] synonym: "xanthomatosis, familial" EXACT [DOID:14497] xref: DOID:14497 {source="MONDO:equivalentTo"} xref: GARD:0007899 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.5 {source="Orphanet:75233", source="ORDO:75233/inclusion", source="DOID:14497", source="ORDO:75233/ntbt"} -xref: MedDRA:10053687 {source="Orphanet:75233", source="ORDO:75233/e"} -xref: MESH:D015223 {source="Orphanet:75233", source="MONDO:equivalentTo", source="DOID:14497", source="ORDO:75233/e"} +xref: ICD10CM:E75.5 {source="Orphanet:75233", source="Orphanet:75233/ntbt", source="DOID:14497", source="Orphanet:75233/inclusion"} +xref: MedDRA:10053687 {source="Orphanet:75233", source="Orphanet:75233/e"} +xref: MESH:D015223 {source="Orphanet:75233", source="MONDO:equivalentTo", source="Orphanet:75233/e", source="DOID:14497"} xref: NCIT:C61271 {source="MONDO:equivalentTo", source="DOID:14497"} -xref: OMIM:278000 {source="MONDO:subClassOf", source="Orphanet:75233", source="ORDO:75233/ntbt"} +xref: OMIM:278000 {source="MONDO:subClassOf", source="Orphanet:75233", source="Orphanet:75233/ntbt"} xref: Orphanet:75233 {source="MONDO:equivalentTo"} xref: SCTID:190795007 {source="DOID:14497"} xref: SCTID:190797004 {source="DOID:14497"} xref: SCTID:238074007 {source="MONDO:possiblyEquivalent", source="DOID:14497"} xref: SCTID:37896002 {source="DOID:14497"} xref: SCTID:82500001 {source="MONDO:equivalentTo", source="DOID:14497"} -xref: UMLS:C0043208 {source="Orphanet:75233", source="MONDO:equivalentTo", source="NCIT:C61271", source="DOID:14497", source="ORDO:75233/e"} +xref: UMLS:C0043208 {source="Orphanet:75233", source="MONDO:equivalentTo", source="NCIT:C61271", source="Orphanet:75233/e", source="DOID:14497"} xref: UMLS:CN438428 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="MONDO:Redundant", source="NCIT:C61271", source="Orphanet:75233/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0010204 {source="DOID:14497", source="Orphanet:75233", source="linkedlifedata"} ! lysosomal acid lipase deficiency @@ -367680,9 +367518,9 @@ synonym: "CESD" RELATED ABBREVIATION [GARD:0012099] synonym: "cholesterol ester storage disease" EXACT [MONDO:0001981, Orphanet:75234] xref: DOID:14502 {source="MONDO:equivalentTo"} xref: GARD:0012099 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E75.5 {source="Orphanet:75234", source="ORDO:75234/attributed", source="ORDO:75234/ntbt"} +xref: ICD10CM:E75.5 {source="Orphanet:75234", source="Orphanet:75234/attributed", source="Orphanet:75234/ntbt"} xref: MESH:D015217 {source="DOID:14502"} -xref: OMIM:278000 {source="MONDO:subClassOf", source="Orphanet:75234", source="ORDO:75234/ntbt"} +xref: OMIM:278000 {source="MONDO:subClassOf", source="Orphanet:75234", source="Orphanet:75234/ntbt"} xref: Orphanet:75234 {source="MONDO:equivalentTo"} xref: SCTID:57218003 {source="MONDO:equivalentTo", source="DOID:14502"} xref: UMLS:C0008384 {source="Orphanet:75234", source="MONDO:equivalentTo", source="DOID:14502"} @@ -367695,12 +367533,12 @@ name: familial isolated restrictive cardiomyopathy def: "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." [https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy] subset: ordo_disease {source="Orphanet:75249"} synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249] -xref: ICD10CM:I42.5 {source="ORDO:75249/specific", source="ORDO:75249/e", source="Orphanet:75249"} -xref: OMIM:115210 {source="Orphanet:75249", source="MONDO:superClassOf", source="ORDO:75249/btnt"} -xref: OMIM:609578 {source="Orphanet:75249", source="MONDO:superClassOf", source="ORDO:75249/btnt"} -xref: OMIM:612422 {source="Orphanet:75249", source="MONDO:superClassOf", source="ORDO:75249/btnt"} -xref: OMIM:615248 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:75249", source="ORDO:75249/ntbt"} -xref: OMIM:617047 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:75249", source="ORDO:75249/ntbt"} +xref: ICD10CM:I42.5 {source="Orphanet:75249", source="Orphanet:75249/e", source="Orphanet:75249/specific"} +xref: OMIM:115210 {source="Orphanet:75249/btnt", source="Orphanet:75249", source="MONDO:superClassOf"} +xref: OMIM:609578 {source="Orphanet:75249/btnt", source="Orphanet:75249", source="MONDO:superClassOf"} +xref: OMIM:612422 {source="Orphanet:75249/btnt", source="Orphanet:75249", source="MONDO:superClassOf"} +xref: OMIM:615248 {source="MONDO:subClassOf", source="Orphanet:75249/ntbt", source="MONDO:relatedTo", source="Orphanet:75249"} +xref: OMIM:617047 {source="MONDO:subClassOf", source="Orphanet:75249/ntbt", source="MONDO:relatedTo", source="Orphanet:75249"} xref: Orphanet:75249 {source="MONDO:equivalentTo"} xref: UMLS:CN205687 {source="MONDO:equivalentTo"} is_a: MONDO:0016340 {source="Orphanet:75249"} ! familial restrictive cardiomyopathy @@ -367729,12 +367567,12 @@ synonym: "Oguchi disease" EXACT CLINGEN_PREFERRED [] synonym: "Oguchi syndrome" EXACT [Orphanet:75382] synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118] xref: GARD:0010118 {source="MONDO:equivalentTo"} -xref: ICD10CM:H53.6 {source="MONDO:subClassOf", source="ORDO:75382/ntbt", source="ORDO:75382/index", source="Orphanet:75382"} -xref: MESH:C537743 {source="MONDO:equivalentTo", source="ORDO:75382/e", source="Orphanet:75382"} -xref: OMIM:258100 {source="MONDO:superClassOf", source="ORDO:75382/e", source="Orphanet:75382"} -xref: OMIM:613411 {source="ORDO:75382/btnt", source="MONDO:superClassOf", source="Orphanet:75382"} +xref: ICD10CM:H53.6 {source="MONDO:subClassOf", source="Orphanet:75382", source="Orphanet:75382/ntbt", source="Orphanet:75382/index"} +xref: MESH:C537743 {source="Orphanet:75382/e", source="MONDO:equivalentTo", source="Orphanet:75382"} +xref: OMIM:258100 {source="Orphanet:75382/e", source="MONDO:superClassOf", source="Orphanet:75382"} +xref: OMIM:613411 {source="MONDO:superClassOf", source="Orphanet:75382", source="Orphanet:75382/btnt"} xref: Orphanet:75382 {source="MONDO:equivalentTo"} -xref: UMLS:C1306122 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:75382/e", source="Orphanet:75382"} +xref: UMLS:C1306122 {source="Orphanet:75382/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:75382"} is_a: MONDO:0016293 ! congenital stationary night blindness is_a: MONDO:0019118 {source="Orphanet:75382", source="indirect"} ! inherited retinal dystrophy relationship: disease_has_feature HP:0030824 ! Mizuo phenomenon @@ -367746,7 +367584,7 @@ name: brain malformation-congenital heart disease-postaxial polydactyly syndrome def: "Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." [Orphanet:75389] subset: ordo_malformation_syndrome {source="Orphanet:75389"} synonym: "Goossens-Devriendt syndrome" EXACT [Orphanet:75389] -xref: ICD10CM:Q87.8 {source="Orphanet:75389", source="ORDO:75389/attributed", source="ORDO:75389/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:75389/attributed", source="Orphanet:75389/ntbt", source="Orphanet:75389"} xref: Orphanet:75389 {source="MONDO:equivalentTo"} xref: SCTID:717943008 {source="MONDO:equivalentTo"} xref: UMLS:C4303545 {source="MONDO:equivalentTo"} @@ -367782,14 +367620,14 @@ synonym: "testicular feminization syndrome" EXACT [DOID:4674, MTH:NOCODE, NCIT:C synonym: "testicular feminization syndrome (formerly)" RELATED [GARD:0005803] xref: DOID:4674 {source="MONDO:equivalentTo"} xref: GARD:0005803 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.5 {source="DOID:4674", source="Orphanet:754", source="Orphanet:99429", source="ORDO:754/specific", source="ORDO:754/e"} +xref: ICD10CM:E34.5 {source="DOID:4674", source="Orphanet:754", source="Orphanet:99429", source="Orphanet:754/e", source="Orphanet:754/specific"} xref: ICD10CM:E34.50 {source="DOID:4674"} xref: ICD10CM:E34.51 {source="DOID:4674", source="MONDO:superClassOf"} xref: ICD9:259.5 {source="DOID:4674"} xref: ICD9:259.51 {source="DOID:4674", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056292 {source="Orphanet:754", source="ORDO:754/e"} -xref: MESH:D013734 {source="DOID:4674", source="Orphanet:754", source="MONDO:equivalentTo", source="ORDO:754/e"} +xref: MedDRA:10056292 {source="Orphanet:754", source="Orphanet:754/e"} +xref: MESH:D013734 {source="DOID:4674", source="Orphanet:754", source="MONDO:equivalentTo", source="Orphanet:754/e"} xref: NCIT:C120191 {source="DOID:4674", source="MONDO:superClassOf"} xref: NCIT:C27226 {source="DOID:4674", source="MONDO:equivalentTo"} xref: OMIM:300068 {source="MONDO:equivalentTo", source="Orphanet:99429"} @@ -367801,8 +367639,8 @@ xref: SCTID:237802009 {source="DOID:4674"} xref: SCTID:267486007 {source="DOID:4674"} xref: SCTID:368851000119102 {source="DOID:4674", source="MONDO:superClassOf"} xref: SCTID:52832001 {source="DOID:4674"} -xref: UMLS:C0039585 {source="DOID:4674", source="Orphanet:754", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C27226", source="OMIM:300068", source="ORDO:754/e"} -xref: UMLS:C0936016 {source="DOID:4674", source="Orphanet:754", source="MONDO:notFoundInDiseaseSubset", source="ORDO:754/e"} +xref: UMLS:C0039585 {source="DOID:4674", source="Orphanet:754", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C27226", source="OMIM:300068", source="Orphanet:754/e"} +xref: UMLS:C0936016 {source="DOID:4674", source="Orphanet:754", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:754/e"} is_a: MONDO:0002145 {source="DOID:4674", source="MESH:D013734/inferred", source="Orphanet:754/inferred"} ! difference of sexual differentiation is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:754", source="Orphanet:754/inferred"} ! endocrine system disorder is_a: MONDO:0005372 {source="MONDO:0018388-obsoleted"} ! male infertility @@ -367834,11 +367672,11 @@ synonym: "Male hypergonadotropic hypogonadism due to LHCGR defect" RELATED [GARD synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [Orphanet:755] synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244, Orphanet:755] xref: GARD:0003244 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q56.1 {source="Orphanet:755", source="ORDO:755/attributed", source="ORDO:755/ntbt"} -xref: MedDRA:10024406 {source="ORDO:755/e", source="Orphanet:755"} -xref: OMIM:238320 {source="GARD:0003244", source="Orphanet:755", source="MONDO:superClassOf", source="ORDO:755/btnt"} +xref: ICD10CM:Q56.1 {source="Orphanet:755", source="Orphanet:755/attributed", source="Orphanet:755/ntbt"} +xref: MedDRA:10024406 {source="Orphanet:755", source="Orphanet:755/e"} +xref: OMIM:238320 {source="GARD:0003244", source="Orphanet:755", source="Orphanet:755/btnt", source="MONDO:superClassOf"} xref: Orphanet:755 {source="GARD:0003244", source="MONDO:equivalentTo"} -xref: UMLS:C0860158 {source="GARD:0003244", source="ORDO:755/e", source="Orphanet:755", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0860158 {source="GARD:0003244", source="Orphanet:755", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:755/e"} is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder relationship: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted"} ! male infertility @@ -367869,7 +367707,7 @@ synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036] synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036] synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564] xref: EFO:0003812 {source="MONDO:equivalentTo"} -xref: ICD10CM:D64.3 {source="Orphanet:75564", source="ORDO:75564/ntbt"} +xref: ICD10CM:D64.3 {source="Orphanet:75564", source="Orphanet:75564/ntbt"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9982/3 {source="NCIT:C4036"} xref: NCIT:C4036 {source="MONDO:equivalentTo", source="EFO:0003812"} @@ -367887,7 +367725,7 @@ def: "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring al subset: ordo_disease {source="Orphanet:75565"} synonym: "Davies disease" EXACT [Orphanet:75565] synonym: "TEMF" EXACT ABBREVIATION [Orphanet:75565] -xref: ICD10CM:I42.3 {source="Orphanet:75565", source="ORDO:75565/ntbt"} +xref: ICD10CM:I42.3 {source="Orphanet:75565/ntbt", source="Orphanet:75565"} xref: Orphanet:75565 {source="MONDO:equivalentTo"} xref: SCTID:715626008 {source="MONDO:equivalentTo"} xref: UMLS:C2882252 {source="MONDO:equivalentTo"} @@ -367902,13 +367740,13 @@ subset: ordo_disease {source="Orphanet:75566"} synonym: "eosinophilic endocarditis" EXACT [Orphanet:75566] synonym: "eosinophilic endomyocardial disease" EXACT [DOID:396, NCIT:C27044] xref: DOID:396 {source="MONDO:equivalentTo"} -xref: ICD10CM:I42.3 {source="Orphanet:75566", source="DOID:396", source="ORDO:75566/ntbt"} -xref: MedDRA:10052841 {source="ORDO:75566/e", source="Orphanet:75566"} +xref: ICD10CM:I42.3 {source="Orphanet:75566", source="Orphanet:75566/ntbt", source="DOID:396"} +xref: MedDRA:10052841 {source="Orphanet:75566", source="Orphanet:75566/e"} xref: NCIT:C27044 {source="MONDO:equivalentTo", source="DOID:396"} xref: Orphanet:75566 {source="MONDO:equivalentTo"} xref: SCTID:33258008 {source="DOID:396"} xref: SCTID:449829009 {source="MONDO:equivalentTo"} -xref: UMLS:C0206143 {source="ORDO:75566/e", source="Orphanet:75566", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0206143 {source="Orphanet:75566", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:75566/e"} xref: UMLS:C0264834 {source="MONDO:notFoundInDiseaseSubset", source="DOID:396"} is_a: MONDO:0016345 {source="Orphanet:75566"} ! non-familial restrictive cardiomyopathy @@ -367933,16 +367771,16 @@ subset: ordo_disease {source="Orphanet:756"} synonym: "PHA type 1" EXACT [Orphanet:756] synonym: "PHA1B" EXACT ABBREVIATION [NCIT:C123251] synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251] -xref: ICD10CM:N25.8 {source="Orphanet:756", source="ORDO:756/attributed", source="ORDO:756/ntbt"} +xref: ICD10CM:N25.8 {source="Orphanet:756/attributed", source="Orphanet:756/ntbt", source="Orphanet:756"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D011546 {source="MONDO:subClassOf", source="ORDO:756/e", source="Orphanet:756"} +xref: MESH:D011546 {source="MONDO:subClassOf", source="Orphanet:756", source="Orphanet:756/e"} xref: NCIT:C123251 {source="MONDO:equivalentTo"} -xref: OMIM:177735 {source="Orphanet:756", source="MONDO:superClassOf", source="ORDO:756/btnt"} -xref: OMIM:264350 {source="Orphanet:756", source="MONDO:superClassOf", source="ORDO:756/btnt"} +xref: OMIM:177735 {source="Orphanet:756/btnt", source="Orphanet:756", source="MONDO:superClassOf"} +xref: OMIM:264350 {source="Orphanet:756/btnt", source="Orphanet:756", source="MONDO:superClassOf"} xref: Orphanet:756 {source="MONDO:equivalentTo"} xref: SCTID:43941006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268436 {source="ORDO:756/e", source="NCIT:C123251", source="Orphanet:756", source="MONDO:equivalentTo"} -xref: UMLS:C1449843 {source="ORDO:756/e", source="Orphanet:756", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0268436 {source="NCIT:C123251", source="Orphanet:756", source="MONDO:equivalentTo", source="Orphanet:756/e"} +xref: UMLS:C1449843 {source="Orphanet:756", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:756/e"} is_a: MONDO:0015962 {source="Orphanet:756"} ! inherited renal tubular disease is_a: MONDO:0018638 {source="NCIT:C123251", source="Orphanet:756", source="linkedlifedata"} ! pseudohypoaldosteronism @@ -367965,18 +367803,18 @@ synonym: "pseudohypoaldosteronism, type 2" EXACT [] synonym: "pseudohypoaldosteronism, type II" EXACT [OMIMPS:145260] synonym: "Spitzer-Weinstein syndrome" EXACT [Orphanet:757] xref: GARD:0004553 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I15.1 {source="Orphanet:757", source="ORDO:757/attributed", source="ORDO:757/ntbt"} +xref: ICD10CM:I15.1 {source="Orphanet:757/attributed", source="Orphanet:757/ntbt", source="Orphanet:757"} xref: ICD9:588.89 {source="linkedlife"} xref: NCIT:C123252 {source="MONDO:equivalentTo"} -xref: OMIM:145260 {source="Orphanet:757", source="MONDO:superClassOf", source="ORDO:757/btnt"} -xref: OMIM:614491 {source="Orphanet:757", source="MONDO:superClassOf", source="ORDO:757/btnt"} -xref: OMIM:614492 {source="Orphanet:757", source="MONDO:superClassOf", source="ORDO:757/btnt"} -xref: OMIM:614495 {source="Orphanet:757", source="MONDO:superClassOf", source="ORDO:757/btnt"} -xref: OMIM:614496 {source="Orphanet:757", source="MONDO:superClassOf", source="ORDO:757/btnt"} +xref: OMIM:145260 {source="Orphanet:757/btnt", source="Orphanet:757", source="MONDO:superClassOf"} +xref: OMIM:614491 {source="Orphanet:757/btnt", source="Orphanet:757", source="MONDO:superClassOf"} +xref: OMIM:614492 {source="Orphanet:757/btnt", source="Orphanet:757", source="MONDO:superClassOf"} +xref: OMIM:614495 {source="Orphanet:757/btnt", source="Orphanet:757", source="MONDO:superClassOf"} +xref: OMIM:614496 {source="Orphanet:757/btnt", source="Orphanet:757", source="MONDO:superClassOf"} xref: OMIMPS:145260 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:757 {source="MONDO:equivalentTo"} xref: SCTID:15689008 {source="MONDO:equivalentTo"} -xref: UMLS:C1449844 {source="ORDO:757/e", source="NCIT:C123252", source="Orphanet:757", source="MONDO:equivalentTo"} +xref: UMLS:C1449844 {source="NCIT:C123252", source="Orphanet:757", source="MONDO:equivalentTo", source="Orphanet:757/e"} is_a: MONDO:0015512 {source="Orphanet:757"} ! genetic hypertension is_a: MONDO:0018638 {source="NCIT:C123252", source="Orphanet:757", source="linkedlife"} ! pseudohypoaldosteronism relationship: has_modifier MONDO:0021152 {source="OMIMPS:145260"} ! inherited @@ -367992,7 +367830,7 @@ id: MONDO:0019164 name: 6q terminal deletion syndrome def: "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." [Orphanet:75857] subset: ordo_malformation_syndrome {source="Orphanet:75857"} -xref: ICD10CM:Q93.5 {source="ORDO:75857/attributed", source="ORDO:75857/ntbt", source="Orphanet:75857"} +xref: ICD10CM:Q93.5 {source="Orphanet:75857", source="Orphanet:75857/attributed", source="Orphanet:75857/ntbt"} xref: Orphanet:75857 {source="MONDO:equivalentTo"} xref: SCTID:719666002 {source="MONDO:equivalentTo"} xref: UMLS:C4304514 {source="MONDO:equivalentTo"} @@ -368012,15 +367850,15 @@ synonym: "CPP" EXACT ABBREVIATION [Orphanet:759] synonym: "gonadotropin-dependant precocious puberty" EXACT [Orphanet:759] synonym: "gonadotropin-dependent precocious puberty" EXACT [] synonym: "precocious puberty, central" EXACT [OMIMPS:176400] -xref: ICD10CM:E22.8 {source="ORDO:759/ntbt", source="Orphanet:759"} +xref: ICD10CM:E22.8 {source="Orphanet:759", source="Orphanet:759/ntbt"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562787 {source="MONDO:equivalentTo"} -xref: OMIM:176400 {source="ORDO:759/btnt", source="Orphanet:759", source="MONDO:superClassOf"} -xref: OMIM:615346 {source="ORDO:759/btnt", source="Orphanet:759", source="MONDO:superClassOf"} +xref: OMIM:176400 {source="Orphanet:759", source="MONDO:superClassOf", source="Orphanet:759/btnt"} +xref: OMIM:615346 {source="Orphanet:759", source="MONDO:superClassOf", source="Orphanet:759/btnt"} xref: OMIMPS:176400 {source="MONDO:equivalentTo"} xref: Orphanet:759 {source="MONDO:equivalentTo"} xref: SCTID:237816004 {source="MONDO:equivalentTo"} -xref: UMLS:C0342543 {source="ORDO:759/e", source="MONDO:equivalentTo", source="Orphanet:759"} +xref: UMLS:C0342543 {source="MONDO:equivalentTo", source="Orphanet:759", source="Orphanet:759/e"} is_a: MONDO:0000088 {source="MESH:C562787", source="Orphanet:759", source="linkedlifedata"} ! precocious puberty intersection_of: MONDO:0000088 ! precocious puberty intersection_of: disease_disrupts GO:0032274 ! gonadotropin secretion @@ -368056,7 +367894,7 @@ synonym: "vascular purpura" RELATED [GARD:0008204] xref: DOID:11123 {source="MONDO:equivalentTo", source="EFO:1000965"} xref: EFO:1000965 {source="MONDO:equivalentTo"} xref: GARD:0008204 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D69.0 {source="ORDO:761/ntbt", source="DOID:11123", source="Orphanet:761"} +xref: ICD10CM:D69.0 {source="Orphanet:761/ntbt", source="DOID:11123", source="Orphanet:761"} xref: ICD9:287.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:11123"} xref: MESH:D011695 {source="MONDO:equivalentTo", source="DOID:11123", source="EFO:1000965"} xref: NCIT:C34963 {source="MONDO:equivalentTo", source="DOID:11123"} @@ -368093,16 +367931,16 @@ synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM:040.81, Orphanet:764] xref: DOID:876 {source="MONDO:equivalentTo"} xref: EFO:1001409 {source="MONDO:equivalentTo"} xref: GARD:0004614 {source="MONDO:equivalentTo"} -xref: ICD10CM:M60.0 {source="Orphanet:764", source="DOID:876", source="ORDO:764/ntbt"} +xref: ICD10CM:M60.0 {source="Orphanet:764", source="DOID:876", source="Orphanet:764/ntbt"} xref: ICD9:040.81 {source="DOID:876", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10037652 {source="Orphanet:764", source="ORDO:764/e"} -xref: MESH:D052880 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo", source="ORDO:764/e"} +xref: MedDRA:10037652 {source="Orphanet:764", source="Orphanet:764/e"} +xref: MESH:D052880 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo", source="Orphanet:764/e"} xref: NCIT:C128382 {source="MONDO:equivalentTo"} xref: Orphanet:764 {source="MONDO:equivalentTo"} xref: SCTID:186430009 {source="DOID:876"} xref: SCTID:65110003 {source="DOID:876", source="MONDO:equivalentTo"} xref: UMLS:C0041188 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo"} -xref: UMLS:C1704275 {source="Orphanet:764", source="MONDO:equivalentTo", source="NCIT:C128382", source="ORDO:764/e"} +xref: UMLS:C1704275 {source="Orphanet:764", source="MONDO:equivalentTo", source="Orphanet:764/e", source="NCIT:C128382"} is_a: MONDO:0005113 {source="Orphanet:764"} ! bacterial infectious disease is_a: MONDO:0021167 {source="DOID:876", source="MESH:D052880", source="NCIT:C128382", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis relationship: has_modifier MONDO:0021136 {source="MONDO:0015575"} ! rare @@ -368123,17 +367961,17 @@ synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649] xref: DOID:3649 {source="EFO:0007459", source="MONDO:equivalentTo"} xref: EFO:0007459 {source="MONDO:equivalentTo"} xref: GARD:0007513 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E74.4 {source="Orphanet:765", source="ORDO:765/inclusion", source="DOID:3649", source="ORDO:765/ntbt"} +xref: ICD10CM:E74.4 {source="Orphanet:765/ntbt", source="Orphanet:765", source="DOID:3649", source="Orphanet:765/inclusion"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536257 {source="Orphanet:765", source="ORDO:765/e"} -xref: MESH:D015325 {source="Orphanet:765", source="EFO:0007459", source="DOID:3649", source="ORDO:765/e"} +xref: MESH:C536257 {source="Orphanet:765", source="Orphanet:765/e"} +xref: MESH:D015325 {source="Orphanet:765", source="EFO:0007459", source="Orphanet:765/e", source="DOID:3649"} xref: NCIT:C103968 {source="MONDO:equivalentTo", source="DOID:3649"} -xref: OMIM:245348 {source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649", source="ORDO:765/btnt"} -xref: OMIM:245349 {source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649", source="ORDO:765/btnt"} -xref: OMIM:246900 {source="Orphanet:765", source="MONDO:superClassOf", source="ORDO:765/btnt"} -xref: OMIM:312170 {source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649", source="ORDO:765/btnt"} -xref: OMIM:608782 {source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649", source="ORDO:765/btnt"} -xref: OMIM:614111 {source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649", source="ORDO:765/btnt"} +xref: OMIM:245348 {source="Orphanet:765/btnt", source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649"} +xref: OMIM:245349 {source="Orphanet:765/btnt", source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649"} +xref: OMIM:246900 {source="Orphanet:765/btnt", source="Orphanet:765", source="MONDO:superClassOf"} +xref: OMIM:312170 {source="Orphanet:765/btnt", source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649"} +xref: OMIM:608782 {source="Orphanet:765/btnt", source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649"} +xref: OMIM:614111 {source="Orphanet:765/btnt", source="Orphanet:765", source="MONDO:superClassOf", source="DOID:3649"} xref: OMIMPS:312170 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:765 {source="MONDO:equivalentTo"} xref: Orphanet:79243 {source="MONDO:superClassOf", source="DOID:3649"} @@ -368141,8 +367979,8 @@ xref: SCTID:124160001 {source="DOID:3649"} xref: SCTID:124593001 {source="MONDO:superClassOf", source="DOID:3649"} xref: SCTID:190761008 {source="DOID:3649"} xref: SCTID:46683007 {source="MONDO:equivalentTo", source="DOID:3649"} -xref: UMLS:C0034345 {source="Orphanet:765", source="MONDO:notFoundInDiseaseSubset", source="DOID:3649", source="ORDO:765/e"} -xref: UMLS:C2936911 {source="Orphanet:765", source="MONDO:notFoundInDiseaseSubset", source="ORDO:765/e"} +xref: UMLS:C0034345 {source="Orphanet:765", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:765/e", source="DOID:3649"} +xref: UMLS:C2936911 {source="Orphanet:765", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:765/e"} is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016789 {source="Orphanet:765"} ! pyruvate metabolism disorder is_a: MONDO:0019214 {source="DOID:3649", source="EFO:0007459"} ! inborn carbohydrate metabolic disorder @@ -368169,10 +368007,10 @@ synonym: "polyarteritis" RELATED [GARD:0007360] synonym: "polyarteritis nodosa" EXACT [NCIT:C26847] xref: DOID:9810 {source="MONDO:equivalentTo"} xref: GARD:0007360 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M30.0 {source="DOID:9810", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo"} +xref: ICD10CM:M30.0 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"} xref: ICD9:446.0 {source="DOID:9810", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10036024 {source="ORDO:767/e", source="Orphanet:767"} -xref: MESH:D010488 {source="DOID:9810", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo"} +xref: MedDRA:10036024 {source="Orphanet:767", source="Orphanet:767/e"} +xref: MESH:D010488 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"} xref: NCIT:C26847 {source="DOID:9810", source="MONDO:equivalentTo"} xref: Orphanet:767 {source="MONDO:equivalentTo"} xref: SCTID:155441006 {source="DOID:9810", source="MONDO:equivalentTo"} @@ -368181,7 +368019,7 @@ xref: SCTID:195347004 {source="DOID:9810"} xref: SCTID:266323005 {source="DOID:9810"} xref: SCTID:286960005 {source="DOID:9810"} xref: SCTID:66121003 {source="DOID:9810"} -xref: UMLS:C0031036 {source="DOID:9810", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo", source="NCIT:C26847"} +xref: UMLS:C0031036 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e", source="NCIT:C26847"} is_a: MONDO:0043494 {source="MESH:D010488", source="NCIT:C26847", source="linkedlifedata/inferred"} ! arteritis relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:767"} ! obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:767"} ! secondary glomerular disease @@ -368199,30 +368037,30 @@ synonym: "LQTS" EXACT ABBREVIATION [Orphanet:768] synonym: "Romano-Ward long QT syndrome" EXACT [Orphanet:101016] synonym: "Romano-Ward syndrome" EXACT [OMIM:192500] synonym: "Ward-Romano syndrome" EXACT [OMIM:192500] -xref: ICD10CM:I45.8 {source="Orphanet:768", source="ORDO:768/attributed", source="ORDO:768/ntbt"} -xref: MedDRA:10057926 {source="ORDO:768/e", source="Orphanet:768"} -xref: OMIM:192500 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:220400 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:600919 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:601005 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:603830 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:611818 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:611819 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:611820 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:612347 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:612955 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:613485 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:613688 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:613693 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:613695 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:616247 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} -xref: OMIM:616249 {source="Orphanet:768", source="MONDO:superClassOf", source="ORDO:768/btnt"} +xref: ICD10CM:I45.8 {source="Orphanet:768/attributed", source="Orphanet:768/ntbt", source="Orphanet:768"} +xref: MedDRA:10057926 {source="Orphanet:768", source="Orphanet:768/e"} +xref: OMIM:192500 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:220400 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:600919 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:601005 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:603830 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:611818 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:611819 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:611820 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:612347 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:612955 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:613485 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:613688 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:613693 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:613695 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:616247 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} +xref: OMIM:616249 {source="Orphanet:768/btnt", source="Orphanet:768", source="MONDO:superClassOf"} xref: OMIMPS:192500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="MONDO:relatedTo", source="OMIM:192500"} xref: Orphanet:768 {source="MONDO:equivalentTo"} xref: SCTID:442917000 {source="MONDO:equivalentTo"} -xref: UMLS:C0035828 {source="OMIM:192500", source="Orphanet:101016", source="NCBI:mim2gene_medline", source="ORDO:101016/e", source="MONDO:equivalentTo", source="NCIT:C85049"} -xref: UMLS:C1141890 {source="ORDO:768/e", source="Orphanet:768", source="MONDO:equivalentTo"} +xref: UMLS:C0035828 {source="OMIM:192500", source="Orphanet:101016", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:101016/e", source="NCIT:C85049"} +xref: UMLS:C1141890 {source="Orphanet:768", source="MONDO:equivalentTo", source="Orphanet:768/e"} is_a: MONDO:0002442 {source="MONDO:Redundant", source="MONDO:cjm"} ! long QT syndrome is_a: MONDO:0015110 {source="Orphanet:768"} ! genetic cardiac rhythm disease intersection_of: MONDO:0002442 ! long QT syndrome @@ -368240,18 +368078,18 @@ subset: ordo_group_of_disorders {source="Orphanet:77"} synonym: "aplasia of iris" EXACT [DOID:12271] xref: DOID:12271 {source="MONDO:equivalentTo"} xref: GARD:0005816 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q13.1 {source="Orphanet:77", source="DOID:12271", source="ORDO:77/attributed", source="ORDO:77/ntbt"} +xref: ICD10CM:Q13.1 {source="Orphanet:77/attributed", source="Orphanet:77/ntbt", source="Orphanet:77", source="DOID:12271"} xref: ICD9:743.45 {source="MONDO:equivalentTo", source="DOID:12271", source="i2s"} -xref: MedDRA:10002532 {source="ORDO:77/e", source="Orphanet:77"} -xref: MESH:C538293 {source="ORDO:77/e", source="Orphanet:77"} -xref: MESH:D015783 {source="ORDO:77/e", source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271"} +xref: MedDRA:10002532 {source="Orphanet:77", source="Orphanet:77/e"} +xref: MESH:C538293 {source="Orphanet:77", source="Orphanet:77/e"} +xref: MESH:D015783 {source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="Orphanet:77/e"} xref: NCIT:C84563 {source="MONDO:equivalentTo", source="DOID:12271", source="exact-label-match"} xref: OMIM:106210 {source="DOID:12271", source="MONDO:superClassOf"} xref: Orphanet:77 {source="MONDO:equivalentTo"} xref: SCTID:204161008 {source="DOID:12271"} xref: SCTID:69278003 {source="MONDO:equivalentTo", source="DOID:12271"} -xref: UMLS:C0003076 {source="ORDO:77/e", source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="NCIT:C84563"} -xref: UMLS:C2931795 {source="ORDO:77/e", source="Orphanet:77", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0003076 {source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="Orphanet:77/e", source="NCIT:C84563"} +xref: UMLS:C2931795 {source="Orphanet:77", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77/e"} is_a: MONDO:0002289 {source="DOID:12271", source="MESH:D015783", source="linkedlifedata/inferred"} ! iris disorder is_a: MONDO:0020146 {source="Orphanet:77"} ! major induction processes eye anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5816/aniridia xsd:anyURI {source="GARD:0005816"} @@ -368266,19 +368104,19 @@ synonym: "lyssa" EXACT [DOID:11260] xref: DOID:11260 {source="MONDO:equivalentTo"} xref: GARD:0007516 {source="MONDO:equivalentTo"} xref: ICD10CM:A82 {source="DOID:11260", source="MONDO:equivalentTo"} -xref: ICD10CM:A82.0 {source="ORDO:770/btnt", source="Orphanet:770"} -xref: ICD10CM:A82.1 {source="ORDO:770/btnt", source="Orphanet:770"} -xref: ICD10CM:A82.9 {source="ORDO:770/btnt", source="DOID:11260", source="Orphanet:770"} +xref: ICD10CM:A82.0 {source="Orphanet:770/btnt", source="Orphanet:770"} +xref: ICD10CM:A82.1 {source="Orphanet:770/btnt", source="Orphanet:770"} +xref: ICD10CM:A82.9 {source="DOID:11260", source="Orphanet:770/btnt", source="Orphanet:770"} xref: ICD9:071 {source="DOID:11260", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10037742 {source="ORDO:770/e", source="Orphanet:770"} -xref: MESH:D011818 {source="DOID:11260", source="MONDO:equivalentTo", source="ORDO:770/e", source="Orphanet:770"} +xref: MedDRA:10037742 {source="Orphanet:770/e", source="Orphanet:770"} +xref: MESH:D011818 {source="Orphanet:770/e", source="DOID:11260", source="MONDO:equivalentTo", source="Orphanet:770"} xref: NCIT:C28182 {source="DOID:11260", source="MONDO:equivalentTo"} xref: Orphanet:770 {source="MONDO:equivalentTo"} xref: SCTID:14168008 {source="DOID:11260", source="MONDO:equivalentTo"} xref: SCTID:186644005 {source="DOID:11260"} xref: SCTID:187393002 {source="DOID:11260"} xref: SCTID:275370001 {source="DOID:11260"} -xref: UMLS:C0034494 {source="DOID:11260", source="MONDO:equivalentTo", source="ORDO:770/e", source="NCIT:C28182", source="Orphanet:770"} +xref: UMLS:C0034494 {source="Orphanet:770/e", source="DOID:11260", source="MONDO:equivalentTo", source="NCIT:C28182", source="Orphanet:770"} is_a: MONDO:0005108 {source="DOID:11260", source="MESH:D011818/inferred", source="MONDO:Redundant", source="NCIT:C28182", source="Orphanet:770", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0020010 {source="Orphanet:770"} ! infectious disorder of the nervous system relationship: disease_has_feature HP:0000713 ! Agitation @@ -368295,22 +368133,22 @@ name: obsolete infantile Refsum disease def: "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." [Orphanet:772] subset: ordo_disease {source="Orphanet:772"} xref: GARD:0004648 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared"} -xref: ICD10CM:G60.1 {source="ORDO:772/attributed", source="ORDO:772/ntbt", source="Orphanet:772"} -xref: MESH:D052919 {source="MONDO:subClassOf", source="MONDO:obsoleteEquivalent", source="ORDO:772/e", source="Orphanet:772"} +xref: ICD10CM:G60.1 {source="Orphanet:772/attributed", source="Orphanet:772/ntbt", source="Orphanet:772"} +xref: MESH:D052919 {source="MONDO:subClassOf", source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"} xref: NCIT:C84789 {source="MONDO:relatedTo", source="MONDO:obsoleteEquivalent"} -xref: OMIM:202370 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:266510 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:601539 {source="ORDO:772/ntbt", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:772"} -xref: OMIM:614863 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:614867 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:614871 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:614873 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:614877 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:614885 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} -xref: OMIM:614920 {source="ORDO:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:202370 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:266510 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:601539 {source="Orphanet:772/ntbt", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:772"} +xref: OMIM:614863 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:614867 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:614871 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:614873 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:614877 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:614885 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} +xref: OMIM:614920 {source="Orphanet:772/btnt", source="MONDO:superClassOf", source="Orphanet:772"} xref: Orphanet:772 {source="MONDO:obsoleteEquivalent"} xref: SCTID:238062008 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0282527 {source="MONDO:obsoleteEquivalent", source="ORDO:772/e", source="Orphanet:772"} +xref: UMLS:C0282527 {source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"} property_value: confidence "0.8321428571428573" xsd:double property_value: IAO:0000231 "out of scope" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3222 xsd:string @@ -368325,7 +368163,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:77240"} synonym: "primary lymphedema" EXACT [NCIT:C48829] synonym: "Troncular lymphatic malformation" EXACT [Orphanet:77240] -xref: ICD10CM:I89.0 {source="ORDO:77240/attributed", source="ORDO:77240/ntbt", source="Orphanet:77240"} +xref: ICD10CM:I89.0 {source="Orphanet:77240/attributed", source="Orphanet:77240/ntbt", source="Orphanet:77240"} xref: NCIT:C48829 {source="MONDO:equivalentTo"} xref: Orphanet:77240 {source="MONDO:equivalentTo"} xref: UMLS:C0026147 {source="NCIT:C48829", source="MONDO:notFoundInDiseaseSubset"} @@ -368338,9 +368176,9 @@ name: trichorhinophalangeal syndrome type I or III def: "Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." [Orphanet:77258] subset: ordo_malformation_syndrome {source="Orphanet:77258"} synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258] -xref: ICD10CM:Q87.1 {source="Orphanet:77258", source="ORDO:77258/attributed", source="ORDO:77258/ntbt"} -xref: OMIM:190350 {source="Orphanet:77258", source="MONDO:superClassOf", source="ORDO:77258/btnt"} -xref: OMIM:190351 {source="Orphanet:77258", source="MONDO:superClassOf", source="ORDO:77258/btnt"} +xref: ICD10CM:Q87.1 {source="Orphanet:77258", source="Orphanet:77258/attributed", source="Orphanet:77258/ntbt"} +xref: OMIM:190350 {source="Orphanet:77258", source="Orphanet:77258/btnt", source="MONDO:superClassOf"} +xref: OMIM:190351 {source="Orphanet:77258", source="Orphanet:77258/btnt", source="MONDO:superClassOf"} xref: Orphanet:77258 {source="MONDO:equivalentTo"} xref: UMLS:CN205736 {source="MONDO:equivalentTo"} is_a: MONDO:0017951 {source="Orphanet:77258"} ! trichorhinophalangeal syndrome @@ -368356,8 +368194,8 @@ subset: ordo_disease {source="Orphanet:77295"} synonym: "dentoleukoencephalopathy" EXACT [Orphanet:77295] synonym: "leukodystrophy with oligodontia" EXACT [Orphanet:77295] xref: GARD:0009632 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.2 {source="ORDO:77295/attributed", source="ORDO:77295/ntbt", source="Orphanet:77295"} -xref: OMIM:607694 {source="MONDO:subClassOf", source="ORDO:77295/ntbt", source="Orphanet:77295", source="MONDO:directSiblingOf"} +xref: ICD10CM:E75.2 {source="Orphanet:77295/attributed", source="Orphanet:77295/ntbt", source="Orphanet:77295"} +xref: OMIM:607694 {source="MONDO:subClassOf", source="Orphanet:77295/ntbt", source="Orphanet:77295", source="MONDO:directSiblingOf"} xref: Orphanet:77295 {source="MONDO:equivalentTo"} xref: SCTID:722064003 {source="MONDO:equivalentTo"} xref: UMLS:C3502054 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77295"} @@ -368370,7 +368208,7 @@ id: MONDO:0019178 name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome def: "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." [Orphanet:77300] subset: ordo_malformation_syndrome {source="Orphanet:77300"} -xref: ICD10CM:Q87.0 {source="ORDO:77300/attributed", source="ORDO:77300/ntbt", source="Orphanet:77300"} +xref: ICD10CM:Q87.0 {source="Orphanet:77300/attributed", source="Orphanet:77300/ntbt", source="Orphanet:77300"} xref: Orphanet:77300 {source="MONDO:equivalentTo"} xref: UMLS:CN205748 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:77300", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -368383,7 +368221,7 @@ name: monosomy 9q22.3 def: "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." [Orphanet:77301] subset: ordo_malformation_syndrome {source="Orphanet:77301"} synonym: "microdeletion 9q22.3" EXACT [Orphanet:77301] -xref: ICD10CM:Q93.5 {source="Orphanet:77301", source="ORDO:77301/attributed", source="ORDO:77301/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:77301", source="Orphanet:77301/attributed", source="Orphanet:77301/ntbt"} xref: MESH:C579873 {source="MONDO:equivalentTo"} xref: Orphanet:77301 {source="MONDO:equivalentTo"} xref: SCTID:724098008 {source="MONDO:equivalentTo"} @@ -368408,22 +368246,22 @@ synonym: "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" EXACT [NCIT: synonym: "telangiectasia, hereditary hemorrhagic" EXACT [OMIMPS:187300] xref: DOID:1270 {source="MONDO:equivalentTo"} xref: GARD:0006626 {source="MONDO:equivalentTo"} -xref: ICD10CM:I78.0 {source="Orphanet:774", source="MONDO:equivalentTo", source="ORDO:774/specific", source="DOID:1270", source="ORDO:774/e"} +xref: ICD10CM:I78.0 {source="Orphanet:774", source="MONDO:equivalentTo", source="Orphanet:774/e", source="DOID:1270", source="Orphanet:774/specific"} xref: ICD9:448.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:1270"} -xref: MedDRA:10019883 {source="Orphanet:774", source="ORDO:774/e"} +xref: MedDRA:10019883 {source="Orphanet:774", source="Orphanet:774/e"} xref: MESH:D013683 {source="MONDO:equivalentTo", source="DOID:1270"} xref: NCIT:C35064 {source="MONDO:equivalentTo", source="DOID:1270"} -xref: OMIM:187300 {source="Orphanet:774", source="MONDO:superClassOf", source="DOID:1270", source="ORDO:774/e"} -xref: OMIM:600376 {source="Orphanet:774", source="MONDO:superClassOf", source="DOID:1270", source="ORDO:774/btnt"} -xref: OMIM:601101 {source="Orphanet:774", source="MONDO:superClassOf", source="DOID:1270", source="ORDO:774/btnt"} -xref: OMIM:610655 {source="Orphanet:774", source="MONDO:superClassOf", source="ORDO:774/btnt"} -xref: OMIM:615506 {source="Orphanet:774", source="MONDO:superClassOf", source="DOID:1270", source="ORDO:774/btnt"} +xref: OMIM:187300 {source="Orphanet:774", source="MONDO:superClassOf", source="Orphanet:774/e", source="DOID:1270"} +xref: OMIM:600376 {source="Orphanet:774", source="Orphanet:774/btnt", source="MONDO:superClassOf", source="DOID:1270"} +xref: OMIM:601101 {source="Orphanet:774", source="Orphanet:774/btnt", source="MONDO:superClassOf", source="DOID:1270"} +xref: OMIM:610655 {source="Orphanet:774", source="Orphanet:774/btnt", source="MONDO:superClassOf"} +xref: OMIM:615506 {source="Orphanet:774", source="Orphanet:774/btnt", source="MONDO:superClassOf", source="DOID:1270"} xref: OMIMPS:187300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:774 {source="MONDO:equivalentTo", source="DOID:1270"} xref: SCTID:155449008 {source="DOID:1270"} xref: SCTID:21877004 {source="MONDO:equivalentTo", source="DOID:1270"} xref: SCTID:266324004 {source="DOID:1270"} -xref: UMLS:C0039445 {source="Orphanet:774", source="NCIT:C35064", source="MONDO:equivalentTo", source="DOID:1270", source="ORDO:774/e"} +xref: UMLS:C0039445 {source="Orphanet:774", source="NCIT:C35064", source="MONDO:equivalentTo", source="Orphanet:774/e", source="DOID:1270"} is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:774"} ! disease or disorder is_a: MONDO:0000426 {source="DOID:1270", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0001576 {source="MESH:D013683", source="NCIT:C35064"} ! telangiectasis @@ -368459,45 +368297,45 @@ synonym: "X-linked non-syndromic intellectual disability" EXACT [Orphanet:777] xref: DOID:0050776 {source="MONDO:equivalentTo"} xref: GARD:0003542 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C564490 {source="MONDO:equivalentTo"} -xref: OMIM:300046 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300047 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300062 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300114 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300115 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300143 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300210 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300271 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300324 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300355 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300372 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300387 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300419 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300428 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300433 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300436 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300454 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300498 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300504 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300505 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300518 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300558 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300705 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300716 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300802 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300803 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300844 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300848 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300849 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300850 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300851 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300852 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300919 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300928 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300978 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300983 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:300984 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:309530 {source="MONDO:superClassOf", source="ORDO:777/btnt"} -xref: OMIM:309549 {source="MONDO:superClassOf", source="ORDO:777/btnt"} +xref: OMIM:300046 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300047 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300062 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300114 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300115 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300143 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300210 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300271 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300324 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300355 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300372 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300387 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300419 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300428 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300433 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300436 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300454 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300498 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300504 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300505 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300518 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300558 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300705 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300716 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300802 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300803 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300844 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300848 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300849 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300850 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300851 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300852 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300919 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300928 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300978 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300983 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:300984 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:309530 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} +xref: OMIM:309549 {source="Orphanet:777/btnt", source="MONDO:superClassOf"} xref: OMIMPS:309530 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:equivalentTo", source="DOID:0050776"} xref: UMLS:C2931498 {source="Orphanet:777", source="MONDO:notFoundInDiseaseSubset"} @@ -368525,7 +368363,7 @@ synonym: "obesity, mild, early-onset, Autosomal recessive" EXACT [OMIM:601665, O synonym: "obesity, severe, and type II diabetes, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, severe, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] synonym: "obesity, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -xref: ICD10CM:E66.8 {source="ORDO:77828/attributed", source="ORDO:77828/ntbt", source="Orphanet:77828"} +xref: ICD10CM:E66.8 {source="Orphanet:77828/attributed", source="Orphanet:77828/ntbt", source="Orphanet:77828"} xref: OMIM:601665 {source="MONDO:equivalentTo"} xref: Orphanet:77828 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="Orphanet:77828"} ! endocrine system disorder @@ -368582,11 +368420,11 @@ synonym: "query fever" EXACT [Orphanet:781] xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"} xref: EFO:0005224 {source="MONDO:equivalentTo"} xref: GARD:0007515 {source="MONDO:equivalentTo"} -xref: ICD10CM:A78 {source="MONDO:equivalentTo", source="ORDO:781/e", source="DOID:11100", source="Orphanet:781"} +xref: ICD10CM:A78 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"} xref: ICD9:083.0 {source="EFO:0005224", source="MONDO:equivalentTo", source="i2s", source="DOID:11100"} -xref: MedDRA:10037688 {source="ORDO:781/e", source="Orphanet:781"} -xref: MedDRA:10037731 {source="ORDO:781/e", source="Orphanet:781"} -xref: MESH:D011778 {source="EFO:0005224", source="MONDO:equivalentTo", source="ORDO:781/e", source="DOID:11100", source="Orphanet:781"} +xref: MedDRA:10037688 {source="Orphanet:781/e", source="Orphanet:781"} +xref: MedDRA:10037731 {source="Orphanet:781/e", source="Orphanet:781"} +xref: MESH:D011778 {source="EFO:0005224", source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"} xref: NCIT:C34970 {source="EFO:0005224", source="MONDO:equivalentTo", source="DOID:11100"} xref: Orphanet:781 {source="MONDO:equivalentTo"} xref: SCTID:154375001 {source="DOID:11100"} @@ -368594,7 +368432,7 @@ xref: SCTID:186788009 {source="EFO:0005224", source="MONDO:equivalentTo", source xref: SCTID:260588007 {source="DOID:11100"} xref: SCTID:266205000 {source="DOID:11100"} xref: SCTID:86012006 {source="DOID:11100"} -xref: UMLS:C0034362 {source="MONDO:equivalentTo", source="NCIT:C34970", source="ORDO:781/e", source="DOID:11100", source="Orphanet:781"} +xref: UMLS:C0034362 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="NCIT:C34970", source="DOID:11100", source="Orphanet:781"} xref: UMLS:C2973787 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:781"} is_a: MONDO:0000314 {source="DOID:11100"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11100/inferred", source="EFO:0005224", source="MESH:D011778/inferred", source="MONDO:Redundant", source="NCIT:C34970", source="Orphanet:781", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease @@ -368626,20 +368464,20 @@ synonym: "Rieger syndrome" EXACT [Orphanet:782] synonym: "Rieger's anomaly" EXACT [DOID:14686] xref: DOID:14686 {source="MONDO:equivalentTo"} xref: GARD:0005701 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q13.8 {source="ORDO:782/attributed", source="ORDO:782/ntbt", source="Orphanet:782"} +xref: ICD10CM:Q13.8 {source="Orphanet:782/attributed", source="Orphanet:782/ntbt", source="Orphanet:782"} xref: ICD10CM:Q13.81 {source="DOID:14686"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10059255 {source="ORDO:782/e", source="Orphanet:782"} -xref: MESH:C535679 {source="MONDO:equivalentTo", source="ORDO:782/e", source="Orphanet:782", source="DOID:14686"} +xref: MedDRA:10059255 {source="Orphanet:782/e", source="Orphanet:782"} +xref: MESH:C535679 {source="Orphanet:782/e", source="MONDO:equivalentTo", source="Orphanet:782", source="DOID:14686"} xref: NCIT:C131001 {source="MONDO:equivalentTo"} -xref: OMIM:180500 {source="MONDO:superClassOf", source="ORDO:782/e", source="Orphanet:782"} -xref: OMIM:601499 {source="ORDO:782/btnt", source="MONDO:superClassOf", source="Orphanet:782"} -xref: OMIM:602482 {source="ORDO:782/btnt", source="MONDO:superClassOf", source="Orphanet:782"} +xref: OMIM:180500 {source="Orphanet:782/e", source="MONDO:superClassOf", source="Orphanet:782"} +xref: OMIM:601499 {source="MONDO:superClassOf", source="Orphanet:782/btnt", source="Orphanet:782"} +xref: OMIM:602482 {source="MONDO:superClassOf", source="Orphanet:782/btnt", source="Orphanet:782"} xref: OMIMPS:180500 {source="MONDO:equivalentTo"} xref: Orphanet:782 {source="MONDO:equivalentTo", source="DOID:14686"} xref: SCTID:47507006 {source="MONDO:equivalentTo", source="DOID:14686"} xref: SCTID:86628002 {source="DOID:14686"} -xref: UMLS:C0265341 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:782/e", source="Orphanet:782", source="DOID:14686"} +xref: UMLS:C0265341 {source="Orphanet:782/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:782", source="DOID:14686"} xref: UMLS:C3495488 {source="MONDO:equivalentTo", source="NCIT:C131001", source="Orphanet:782"} xref: UMLS:CN776842 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131001", source="indirect"} ! syndromic disease @@ -368667,19 +368505,19 @@ synonym: "RSTS" RELATED ABBREVIATION [GARD:0007593] synonym: "Rubinstein syndrome" EXACT [DOID:1933] xref: DOID:1933 {source="MONDO:equivalentTo"} xref: GARD:0007593 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="ORDO:783/ntbt", source="ORDO:783/inclusion", source="DOID:1933", source="Orphanet:783"} +xref: ICD10CM:Q87.2 {source="Orphanet:783/ntbt", source="DOID:1933", source="Orphanet:783/inclusion", source="Orphanet:783"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10039281 {source="ORDO:783/e", source="Orphanet:783"} -xref: MESH:D012415 {source="MONDO:equivalentTo", source="DOID:1933", source="ORDO:783/e", source="Orphanet:783"} +xref: MedDRA:10039281 {source="Orphanet:783/e", source="Orphanet:783"} +xref: MESH:D012415 {source="Orphanet:783/e", source="MONDO:equivalentTo", source="DOID:1933", source="Orphanet:783"} xref: NCIT:C75466 {source="MONDO:equivalentTo", source="DOID:1933"} -xref: OMIM:180849 {source="ORDO:783/btnt", source="MONDO:superClassOf", source="DOID:1933", source="Orphanet:783"} -xref: OMIM:610543 {source="ORDO:783/btnt", source="MONDO:superClassOf", source="DOID:1933", source="Orphanet:783"} -xref: OMIM:613684 {source="ORDO:783/btnt", source="MONDO:superClassOf", source="DOID:1933", source="Orphanet:783"} +xref: OMIM:180849 {source="Orphanet:783/btnt", source="MONDO:superClassOf", source="DOID:1933", source="Orphanet:783"} +xref: OMIM:610543 {source="Orphanet:783/btnt", source="MONDO:superClassOf", source="DOID:1933", source="Orphanet:783"} +xref: OMIM:613684 {source="Orphanet:783/btnt", source="MONDO:superClassOf", source="DOID:1933", source="Orphanet:783"} xref: OMIMPS:180849 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:783 {source="MONDO:equivalentTo", source="DOID:1933"} xref: SCTID:157032007 {source="DOID:1933"} xref: SCTID:45582004 {source="MONDO:equivalentTo", source="DOID:1933"} -xref: UMLS:C0035934 {source="MONDO:equivalentTo", source="DOID:1933", source="ORDO:783/e", source="NCIT:C75466", source="Orphanet:783"} +xref: UMLS:C0035934 {source="Orphanet:783/e", source="MONDO:equivalentTo", source="DOID:1933", source="NCIT:C75466", source="Orphanet:783"} is_a: MONDO:0000426 {source="DOID:1933", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:783", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder @@ -368717,8 +368555,8 @@ subset: ordo_clinical_subtype {source="Orphanet:79076"} synonym: "infantile juvenile polyposis syndrome" EXACT [Orphanet:79076] synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] -xref: ICD10CM:D12.6 {source="ORDO:79076/attributed", source="ORDO:79076/ntbt", source="Orphanet:79076"} -xref: OMIM:612242 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:79076/ntbt", source="Orphanet:79076"} +xref: ICD10CM:D12.6 {source="Orphanet:79076", source="Orphanet:79076/attributed", source="Orphanet:79076/ntbt"} +xref: OMIM:612242 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:79076", source="Orphanet:79076/ntbt"} xref: Orphanet:79076 {source="MONDO:equivalentTo"} xref: UMLS:CN205768 {source="MONDO:equivalentTo"} is_a: MONDO:0017380 {source="MONDO:Redundant", source="Orphanet:79076"} ! juvenile polyposis syndrome @@ -368740,15 +368578,15 @@ synonym: "Mikulicz's disease" EXACT [DOID:12900] synonym: "Mikulicz's disease (former)" RELATED [GARD:0007043] xref: DOID:12900 {source="MONDO:equivalentTo"} xref: GARD:0007043 {source="MONDO:equivalentTo"} -xref: ICD10CM:K11.8 {source="DOID:12900", source="ORDO:79078/ntbt", source="Orphanet:79078"} -xref: MedDRA:10051457 {source="ORDO:79078/e", source="Orphanet:79078"} -xref: MedDRA:10052317 {source="ORDO:79078/e", source="Orphanet:79078"} -xref: MESH:D008882 {source="DOID:12900", source="MONDO:equivalentTo", source="ORDO:79078/e", source="Orphanet:79078"} +xref: ICD10CM:K11.8 {source="DOID:12900", source="Orphanet:79078", source="Orphanet:79078/ntbt"} +xref: MedDRA:10051457 {source="Orphanet:79078/e", source="Orphanet:79078"} +xref: MedDRA:10052317 {source="Orphanet:79078/e", source="Orphanet:79078"} +xref: MESH:D008882 {source="Orphanet:79078/e", source="DOID:12900", source="MONDO:equivalentTo", source="Orphanet:79078"} xref: NCIT:C34819 {source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo"} xref: Orphanet:79078 {source="MONDO:equivalentTo"} xref: SCTID:196478007 {source="DOID:12900"} xref: SCTID:7826003 {source="DOID:12900", source="MONDO:equivalentTo"} -xref: UMLS:C0026103 {source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo", source="ORDO:79078/e", source="Orphanet:79078"} +xref: UMLS:C0026103 {source="Orphanet:79078/e", source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo", source="Orphanet:79078"} is_a: MONDO:0001854 {source="DOID:12900", source="MONDO:Redundant", source="linkedlifedata"} ! lacrimal apparatus disorder is_a: MONDO:0007179 {source="DOID:12900", source="MONDO:Redundant", source="NCIT:C34819", source="indirect"} ! autoimmune disease is_a: MONDO:0017287 {source="Orphanet:79078"} ! IgG4-related disease @@ -368763,7 +368601,7 @@ subset: ordo_disease {source="Orphanet:79085"} synonym: "AKT2-related FPLD" EXACT [Orphanet:79085] synonym: "familial partial lipodystrophy due to AKT2 mutations" RELATED [GARD:0012599] xref: GARD:0012599 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E88.1 {source="ORDO:79085/attributed", source="ORDO:79085/ntbt", source="Orphanet:79085"} +xref: ICD10CM:E88.1 {source="Orphanet:79085", source="Orphanet:79085/attributed", source="Orphanet:79085/ntbt"} xref: Orphanet:79085 {source="MONDO:equivalentTo"} xref: UMLS:CN205772 {source="MONDO:equivalentTo"} xref: UMLS:CN536246 {source="MONDO:equivalentTo"} @@ -368781,11 +368619,11 @@ synonym: "Lawrence syndrome" EXACT [DOID:0080300, Orphanet:79086] synonym: "Lawrence-Seip syndrome" EXACT [Orphanet:79086] xref: DOID:0080300 {source="MONDO:equivalentTo"} xref: GARD:0012603 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.1 {source="ORDO:79086/ntbt", source="Orphanet:79086"} +xref: ICD10CM:E88.1 {source="Orphanet:79086", source="Orphanet:79086/ntbt"} xref: NCIT:C131089 {source="MONDO:equivalentTo"} xref: Orphanet:79086 {source="MONDO:equivalentTo"} xref: SCTID:86907008 {source="MONDO:equivalentTo"} -xref: UMLS:C0271693 {source="ORDO:79086/e", source="MONDO:equivalentTo", source="Orphanet:79086", source="NCIT:C131089"} +xref: UMLS:C0271693 {source="MONDO:equivalentTo", source="Orphanet:79086", source="NCIT:C131089", source="Orphanet:79086/e"} xref: UMLS:C3665770 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79086"} is_a: MONDO:0005015 {source="MONDO:0015885-obsoleted"} ! diabetes mellitus is_a: MONDO:0006573 {source="DOID:0080300/inferred", source="MONDO:Redundant", source="NCIT:C131089", source="indirect", source="linkedlifedata"} ! lipodystrophy @@ -368808,7 +368646,7 @@ synonym: "idiopathic localized lipodystrophy (subtype)" RELATED [GARD:0005867] synonym: "panniculitis and localized lipodystrophy (subtype)" RELATED [GARD:0005867] synonym: "pressure-induced localized lipoatrophy (subtype)" RELATED [GARD:0005867] xref: GARD:0005867 {source="MONDO:equivalentTo"} -xref: ICD10CM:E88.1 {source="ORDO:79088/ntbt", source="Orphanet:79088"} +xref: ICD10CM:E88.1 {source="Orphanet:79088/ntbt", source="Orphanet:79088"} xref: NCIT:C131814 {source="MONDO:equivalentTo"} xref: Orphanet:79088 {source="MONDO:equivalentTo"} xref: UMLS:C4329999 {source="MONDO:equivalentTo"} @@ -368831,8 +368669,8 @@ synonym: "Inclusion body myopathy autosomal dominant" RELATED [GARD:0009494] synonym: "inclusion body myopathy type 3" EXACT [Orphanet:79091] synonym: "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [GARD:0009494] xref: GARD:0009494 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.8 {source="Orphanet:79091", source="ORDO:79091/attributed", source="ORDO:79091/ntbt"} -xref: OMIM:605637 {source="MONDO:subClassOf", source="Orphanet:79091", source="GARD:0009494", source="ORDO:79091/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:79091/attributed", source="Orphanet:79091/ntbt", source="Orphanet:79091"} +xref: OMIM:605637 {source="MONDO:subClassOf", source="Orphanet:79091/ntbt", source="Orphanet:79091", source="GARD:0009494"} xref: Orphanet:79091 {source="GARD:0009494", source="MONDO:equivalentTo"} xref: SCTID:724349009 {source="MONDO:equivalentTo"} xref: UMLS:CN205775 {source="MONDO:equivalentTo"} @@ -368850,7 +368688,7 @@ synonym: "familial osteosclerosis with abnormalities of the nervous system and m synonym: "Subacute angiohypertrophic myelomalacia" EXACT [Orphanet:79093] synonym: "Subacute ascending necrotizing myelitis" EXACT [Orphanet:79093] synonym: "Subacute necrotizing myelitis" EXACT [Orphanet:79093] -xref: ICD10CM:G37.4 {source="Orphanet:79093", source="ORDO:79093/ntbt"} +xref: ICD10CM:G37.4 {source="Orphanet:79093/ntbt", source="Orphanet:79093"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79093 {source="MONDO:equivalentTo"} xref: SCTID:230379007 {source="MONDO:equivalentTo"} @@ -368868,7 +368706,7 @@ def: "Folinic acid-responsive seizures is a very rare neonatal epileptic encepha comment: Editor note: TODO request from CHEBI subset: ordo_disease {source="Orphanet:79097"} synonym: "Folinic acid responsive seizures" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html] -xref: ICD10CM:G40.3 {source="ORDO:79097/attributed", source="ORDO:79097/ntbt", source="Orphanet:79097"} +xref: ICD10CM:G40.3 {source="Orphanet:79097", source="Orphanet:79097/attributed", source="Orphanet:79097/ntbt"} xref: Orphanet:79097 {source="MONDO:equivalentTo"} xref: SCTID:717276003 {source="MONDO:equivalentTo"} xref: UMLS:CN205780 {source="MONDO:equivalentTo"} @@ -368885,14 +368723,14 @@ synonym: "sympathetic ophthalmia" EXACT [MONDO:0006991] synonym: "sympathetic uveitis" EXACT [DOID:12029, ICD9CM:360.11, Orphanet:79098] xref: DOID:12029 {source="MONDO:equivalentTo", source="EFO:1001205"} xref: EFO:1001205 {source="MONDO:equivalentTo"} -xref: ICD10CM:H44.1 {source="ORDO:79098/ntbt", source="Orphanet:79098"} +xref: ICD10CM:H44.1 {source="Orphanet:79098", source="Orphanet:79098/ntbt"} xref: ICD10CM:H44.13 {source="DOID:12029"} xref: ICD9:360.11 {source="DOID:12029", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10042742 {source="ORDO:79098/e", source="Orphanet:79098", source="EFO:1001205"} -xref: MESH:D009879 {source="DOID:12029", source="MONDO:equivalentTo", source="ORDO:79098/e", source="Orphanet:79098", source="EFO:1001205"} +xref: MedDRA:10042742 {source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"} +xref: MESH:D009879 {source="DOID:12029", source="MONDO:equivalentTo", source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"} xref: Orphanet:79098 {source="MONDO:equivalentTo"} xref: SCTID:75315001 {source="DOID:12029", source="MONDO:equivalentTo", source="EFO:1001205"} -xref: UMLS:C0029077 {source="DOID:12029", source="MONDO:equivalentTo", source="ORDO:79098/e", source="Orphanet:79098"} +xref: UMLS:C0029077 {source="DOID:12029", source="MONDO:equivalentTo", source="Orphanet:79098", source="Orphanet:79098/e"} is_a: MONDO:0017255 {source="DOID:12029", source="EFO:1001205", source="MESH:D009879"} ! panuveitis is_a: MONDO:0017634 {source="Orphanet:79098"} ! non-infectious anterior uveitis @@ -368921,97 +368759,97 @@ synonym: "retinitis pigmentosa" EXACT CLINGEN_PREFERRED [] synonym: "Rod-cone dystrophy" RELATED [GARD:0005694] xref: DOID:10584 {source="MONDO:equivalentTo"} xref: GARD:0005694 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="ORDO:791/ntbt", source="Orphanet:791", source="MONDO:directSiblingOf", source="ORDO:791/inclusion"} +xref: ICD10CM:H35.5 {source="Orphanet:791/inclusion", source="Orphanet:791", source="Orphanet:791/ntbt", source="MONDO:directSiblingOf"} xref: ICD10CM:H35.52 {source="DOID:10584"} -xref: MedDRA:10038914 {source="ORDO:791/e", source="Orphanet:791"} +xref: MedDRA:10038914 {source="Orphanet:791/e", source="Orphanet:791"} xref: MESH:C538365 {source="MONDO:superClassOf", source="DOID:10584"} -xref: MESH:D012174 {source="MONDO:equivalentTo", source="ORDO:791/e", source="Orphanet:791", source="DOID:10584"} +xref: MESH:D012174 {source="Orphanet:791/e", source="MONDO:equivalentTo", source="Orphanet:791", source="DOID:10584"} xref: NCIT:C85045 {source="MONDO:equivalentTo", source="DOID:10584"} -xref: OMIM:180100 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:180104 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:180105 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:180210 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:268000 {source="MONDO:equivalentTo", source="ORDO:791/e"} -xref: OMIM:268025 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:268060 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:300029 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:300155 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:300424 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:300605 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:312600 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:312612 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:400004 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:600059 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:600105 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:600132 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:600138 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:600852 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:601414 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:601718 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:602594 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:602772 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:604232 {source="ORDO:791/ntbt", source="MONDO:relatedTo"} -xref: OMIM:604393 {source="ORDO:791/ntbt", source="MONDO:relatedTo"} -xref: OMIM:606068 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:607921 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:608133 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:608380 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:609913 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:609923 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:610282 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:610359 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:610599 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:611131 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:612095 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:612165 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:612572 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:612712 {source="ORDO:791/ntbt", source="MONDO:relatedTo"} -xref: OMIM:612943 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613194 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613341 {source="ORDO:791/ntbt", source="MONDO:relatedTo"} -xref: OMIM:613428 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613464 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613575 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613581 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613582 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613617 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613660 {source="ORDO:791/ntbt", source="MONDO:superClassOf"} -xref: OMIM:613731 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613750 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613756 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613758 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613767 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613769 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613794 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613801 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613809 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613810 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613827 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613861 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613862 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:613983 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:614180 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:614181 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:614494 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:614500 {source="ORDO:791/ntbt", source="MONDO:superClassOf"} -xref: OMIM:615233 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:615434 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:615565 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:615725 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:615780 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:615922 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:616188 {source="ORDO:791/nd", source="MONDO:superClassOf"} -xref: OMIM:616394 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:616469 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:616544 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:616562 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:617023 {source="ORDO:791/btnt", source="MONDO:superClassOf"} -xref: OMIM:617123 {source="ORDO:791/btnt", source="MONDO:superClassOf"} +xref: OMIM:180100 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:180104 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:180105 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:180210 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:268000 {source="Orphanet:791/e", source="MONDO:equivalentTo"} +xref: OMIM:268025 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:268060 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:300029 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:300155 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:300424 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:300605 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:312600 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:312612 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:400004 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:600059 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:600105 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:600132 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:600138 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:600852 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:601414 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:601718 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:602594 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:602772 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:604232 {source="MONDO:relatedTo", source="Orphanet:791/ntbt"} +xref: OMIM:604393 {source="MONDO:relatedTo", source="Orphanet:791/ntbt"} +xref: OMIM:606068 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:607921 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:608133 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:608380 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:609913 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:609923 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:610282 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:610359 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:610599 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:611131 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:612095 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:612165 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:612572 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:612712 {source="MONDO:relatedTo", source="Orphanet:791/ntbt"} +xref: OMIM:612943 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613194 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613341 {source="MONDO:relatedTo", source="Orphanet:791/ntbt"} +xref: OMIM:613428 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613464 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613575 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613581 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613582 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613617 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613660 {source="MONDO:superClassOf", source="Orphanet:791/ntbt"} +xref: OMIM:613731 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613750 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613756 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613758 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613767 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613769 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613794 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613801 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613809 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613810 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613827 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613861 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613862 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:613983 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:614180 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:614181 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:614494 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:614500 {source="MONDO:superClassOf", source="Orphanet:791/ntbt"} +xref: OMIM:615233 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:615434 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:615565 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:615725 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:615780 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:615922 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:616188 {source="MONDO:superClassOf", source="Orphanet:791/nd"} +xref: OMIM:616394 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:616469 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:616544 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:616562 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:617023 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} +xref: OMIM:617123 {source="MONDO:superClassOf", source="Orphanet:791/btnt"} xref: OMIMPS:268000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:791 {source="MONDO:equivalentTo", source="DOID:10584"} xref: SCTID:155113002 {source="DOID:10584"} xref: SCTID:28835009 {source="MONDO:equivalentTo", source="DOID:10584"} -xref: UMLS:C0035334 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:791/e", source="Orphanet:791", source="NCIT:C85045", source="DOID:10584"} +xref: UMLS:C0035334 {source="Orphanet:791/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:791", source="NCIT:C85045", source="DOID:10584"} xref: UMLS:C0220701 {source="MONDO:superClassOf", source="DOID:10584"} xref: UMLS:C4072872 {source="MONDO:equivalentTo"} is_a: MONDO:0004580 {source="DOID:10584", source="MESH:D012174/inferred", source="MONDO:Redundant", source="indirect"} ! retinal degeneration @@ -369026,15 +368864,15 @@ subset: gard_rare {source="GARD:0010814"} subset: ordo_disease {source="Orphanet:79102"} synonym: "thyrotoxic hypokalemic periodic paralysis" EXACT [Orphanet:79102] xref: GARD:0010814 {source="MONDO:equivalentTo"} -xref: ICD10CM:G72.3 {source="ORDO:79102/ntbt", source="Orphanet:79102"} -xref: MedDRA:10043788 {source="ORDO:79102/e", source="Orphanet:79102"} -xref: OMIM:188580 {source="ORDO:79102/btnt", source="MONDO:superClassOf", source="Orphanet:79102"} -xref: OMIM:613239 {source="ORDO:79102/btnt", source="MONDO:superClassOf", source="Orphanet:79102"} -xref: OMIM:614834 {source="ORDO:79102/btnt", source="MONDO:superClassOf", source="Orphanet:79102"} +xref: ICD10CM:G72.3 {source="Orphanet:79102/ntbt", source="Orphanet:79102"} +xref: MedDRA:10043788 {source="Orphanet:79102/e", source="Orphanet:79102"} +xref: OMIM:188580 {source="MONDO:superClassOf", source="Orphanet:79102/btnt", source="Orphanet:79102"} +xref: OMIM:613239 {source="MONDO:superClassOf", source="Orphanet:79102/btnt", source="Orphanet:79102"} +xref: OMIM:614834 {source="MONDO:superClassOf", source="Orphanet:79102/btnt", source="Orphanet:79102"} xref: OMIMPS:188580 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="MONDO:equivalentTo"} xref: SCTID:30967002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268446 {source="MONDO:equivalentTo", source="ORDO:79102/e", source="Orphanet:79102"} +xref: UMLS:C0268446 {source="Orphanet:79102/e", source="MONDO:equivalentTo", source="Orphanet:79102"} is_a: MONDO:0000995 {source="linkedlifedata"} ! familial periodic paralysis is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:79102", source="indirect"} ! periodic paralysis relationship: has_modifier MONDO:0021152 {source="OMIMPS:188580"} ! inherited @@ -369052,9 +368890,9 @@ synonym: "myxoid fibrous histiocytoma" EXACT [NCIT:C6496] synonym: "myxoid malignant fibrous histiocytoma" EXACT [NCIT:C6496, Orphanet:79105] synonym: "myxoid MFH" EXACT [NCIT:C6496] xref: DOID:0080534 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="Orphanet:79105", source="ORDO:79105/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:79105", source="Orphanet:79105/ntbt"} xref: ICDO:8811/3 {source="NCIT:C6496"} -xref: MedDRA:10066948 {source="Orphanet:79105", source="ORDO:79105/e"} +xref: MedDRA:10066948 {source="Orphanet:79105", source="Orphanet:79105/e"} xref: NCIT:C6496 {source="MONDO:equivalentTo"} xref: ONCOTREE:MFS {source="MONDO:equivalentTo"} xref: Orphanet:79105 {source="MONDO:equivalentTo"} @@ -369077,19 +368915,19 @@ synonym: "Hamman-rich syndrome" EXACT [DOID:2800, Orphanet:79126] synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT [DOID:2800] xref: DOID:2800 {source="MONDO:equivalentTo"} xref: GARD:0012835 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:J84.1 {source="ORDO:79126/ntbt", source="Orphanet:79126"} +xref: ICD10CM:J84.1 {source="Orphanet:79126/ntbt", source="Orphanet:79126"} xref: ICD10CM:J84.114 {source="DOID:2800"} xref: ICD9:516.33 {source="DOID:2800"} -xref: MedDRA:10066728 {source="ORDO:79126/e", source="Orphanet:79126"} +xref: MedDRA:10066728 {source="Orphanet:79126/e", source="Orphanet:79126"} xref: NCIT:C35806 {source="MONDO:equivalentTo", source="DOID:2800"} -xref: OMIM:178500 {source="MONDO:subClassOf", source="ORDO:79126/ntbt", source="Orphanet:79126"} +xref: OMIM:178500 {source="MONDO:subClassOf", source="Orphanet:79126/ntbt", source="Orphanet:79126"} xref: Orphanet:79126 {source="MONDO:equivalentTo"} xref: SCTID:129459004 {source="DOID:2800"} xref: SCTID:236302005 {source="MONDO:equivalentTo", source="DOID:2800"} xref: SCTID:35037009 {source="DOID:2800"} xref: SCTID:45157009 {source="DOID:2800"} -xref: UMLS:C0085786 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79126/e", source="Orphanet:79126"} -xref: UMLS:C1279945 {source="NCIT:C35806", source="MONDO:equivalentTo", source="DOID:2800", source="ORDO:79126/e", source="Orphanet:79126"} +xref: UMLS:C0085786 {source="Orphanet:79126/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79126"} +xref: UMLS:C1279945 {source="NCIT:C35806", source="Orphanet:79126/e", source="MONDO:equivalentTo", source="DOID:2800", source="Orphanet:79126"} is_a: MONDO:0002429 {source="DOID:2800", source="MONDO:0019203/inferred", source="MONDO:Redundant", source="NCIT:C35806", source="Orphanet:79126", source="indirect"} ! idiopathic interstitial pneumonia relationship: excluded_subClassOf MONDO:0008345 ! idiopathic pulmonary fibrosis property_value: confidence "0.5823588235294124" xsd:double @@ -369100,11 +368938,11 @@ name: respiratory bronchiolitis-interstitial lung disease syndrome def: "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." [Orphanet:79127] subset: ordo_disease {source="Orphanet:79127"} synonym: "RB-ILD" EXACT [Orphanet:79127] -xref: ICD10CM:J68.4 {source="Orphanet:79127", source="ORDO:79127/ntbt"} -xref: MedDRA:10066393 {source="Orphanet:79127", source="ORDO:79127/e"} +xref: ICD10CM:J68.4 {source="Orphanet:79127", source="Orphanet:79127/ntbt"} +xref: MedDRA:10066393 {source="Orphanet:79127", source="Orphanet:79127/e"} xref: Orphanet:79127 {source="MONDO:equivalentTo"} -xref: UMLS:C1276236 {source="Orphanet:79127", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79127/e"} -xref: UMLS:C1735355 {source="Orphanet:79127", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79127/e"} +xref: UMLS:C1276236 {source="Orphanet:79127", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79127/e"} +xref: UMLS:C1735355 {source="Orphanet:79127", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79127/e"} xref: UMLS:CN205794 {source="MONDO:equivalentTo"} is_a: MONDO:0002429 {source="Orphanet:79127"} ! idiopathic interstitial pneumonia @@ -369133,9 +368971,9 @@ def: "DEND syndrome is a very rare, generally severe form of neonatal diabetes m subset: ordo_disease {source="Orphanet:79134"} synonym: "developmental delay-epilepsy-neonatal diabetes syndrome" EXACT [Orphanet:79134] synonym: "K ATP associated developmental delay, epilepsy and neonatal diabetes" EXACT [NCIT:C131845] -xref: ICD10CM:P70.2 {source="MONDO:subClassOf", source="ORDO:79134/attributed", source="ORDO:79134/ntbt", source="Orphanet:79134"} +xref: ICD10CM:P70.2 {source="MONDO:subClassOf", source="Orphanet:79134/attributed", source="Orphanet:79134/ntbt", source="Orphanet:79134"} xref: NCIT:C131845 {source="MONDO:equivalentTo"} -xref: OMIM:606176 {source="MONDO:subClassOf", source="ORDO:79134/ntbt", source="Orphanet:79134"} +xref: OMIM:606176 {source="MONDO:subClassOf", source="Orphanet:79134/ntbt", source="Orphanet:79134"} xref: Orphanet:79134 {source="MONDO:equivalentTo"} xref: SCTID:721088003 {source="MONDO:equivalentTo"} xref: UMLS:C1853564 {source="MONDO:equivalentTo", source="Orphanet:79134"} @@ -369149,11 +368987,11 @@ id: MONDO:0019208 name: Bickerstaff brainstem encephalitis def: "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." [Orphanet:79138] subset: ordo_disease {source="Orphanet:79138"} -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:79138", source="ORDO:79138/ntbt"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:79138", source="Orphanet:79138/ntbt"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79138 {source="MONDO:equivalentTo"} xref: SCTID:427086003 {source="MONDO:equivalentTo"} -xref: UMLS:C1960543 {source="Orphanet:79138", source="MONDO:equivalentTo", source="ORDO:79138/e"} +xref: UMLS:C1960543 {source="Orphanet:79138", source="MONDO:equivalentTo", source="Orphanet:79138/e"} is_a: MONDO:0016494 {source="Orphanet:79138"} ! regional variant of Guillain-Barre syndrome is_a: MONDO:0020068 {source="Orphanet:79138"} ! postinfectious encephalitis @@ -369168,16 +369006,16 @@ synonym: "JE" RELATED ABBREVIATION [GARD:0006797] xref: DOID:10844 {source="MONDO:equivalentTo", source="EFO:0007332"} xref: EFO:0007332 {source="MONDO:equivalentTo"} xref: GARD:0006797 {source="MONDO:equivalentTo"} -xref: ICD10CM:A83.0 {source="Orphanet:79139", source="DOID:10844", source="ORDO:79139/e"} +xref: ICD10CM:A83.0 {source="Orphanet:79139", source="DOID:10844", source="Orphanet:79139/e"} xref: ICD9:062.0 {source="DOID:10844", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10014596 {source="Orphanet:79139", source="ORDO:79139/e"} -xref: MESH:D004672 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="EFO:0007332", source="ORDO:79139/e"} +xref: MedDRA:10014596 {source="Orphanet:79139", source="Orphanet:79139/e"} +xref: MESH:D004672 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="Orphanet:79139/e", source="EFO:0007332"} xref: NCIT:C34577 {source="DOID:10844", source="MONDO:equivalentTo"} xref: Orphanet:79139 {source="MONDO:equivalentTo"} xref: SCTID:154345006 {source="DOID:10844"} xref: SCTID:266194002 {source="DOID:10844"} xref: SCTID:52947006 {source="DOID:10844", source="MONDO:equivalentTo"} -xref: UMLS:C0014057 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="ORDO:79139/e"} +xref: UMLS:C0014057 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="Orphanet:79139/e"} is_a: MONDO:0005156 {source="EFO:0007332", source="MONDO:Redundant", source="indirect"} ! encephalomyelitis is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C34577/inferred", source="Orphanet:79139", source="linkedlifedata"} ! viral encephalitis is_a: MONDO:0020067 {source="MESH:D004672/inferred", source="MONDO:Redundant", source="NCIT:C34577/inferred", source="Orphanet:79139", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis @@ -369211,9 +369049,9 @@ synonym: "trabecular cancer" EXACT [NCIT:C9231] synonym: "trabecular skin carcinoma" EXACT [NCIT:C9231] xref: EFO:1001471 {source="MONDO:equivalentTo"} xref: GARD:0009266 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C44.3 {source="ORDO:79140/btnt", source="Orphanet:79140"} -xref: ICD10CM:C44.6 {source="ORDO:79140/btnt", source="Orphanet:79140"} -xref: ICD10CM:C44.7 {source="ORDO:79140/btnt", source="Orphanet:79140"} +xref: ICD10CM:C44.3 {source="Orphanet:79140", source="Orphanet:79140/btnt"} +xref: ICD10CM:C44.6 {source="Orphanet:79140", source="Orphanet:79140/btnt"} +xref: ICD10CM:C44.7 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: ICD9:209.36 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8247/3 {source="NCIT:C9231"} xref: MESH:D015266 {source="MONDO:equivalentTo"} @@ -369241,10 +369079,10 @@ synonym: "congenital anonychia" RELATED [GARD:0012930] synonym: "isolated anonychia" EXACT [Orphanet:79143] synonym: "nonsyndromic congenital nail disorder, 4" RELATED [GARD:0012930] xref: GARD:0012930 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q84.3 {source="ORDO:79143/e", source="Orphanet:79143", source="ORDO:79143/specific"} -xref: OMIM:107000 {source="ORDO:79143/btnt", source="MONDO:superClassOf", source="Orphanet:79143"} -xref: OMIM:206800 {source="ORDO:79143/btnt", source="MONDO:superClassOf", source="Orphanet:79143"} -xref: OMIM:614149 {source="ORDO:79143/btnt", source="MONDO:superClassOf", source="Orphanet:79143"} +xref: ICD10CM:Q84.3 {source="Orphanet:79143/e", source="Orphanet:79143/specific", source="Orphanet:79143"} +xref: OMIM:107000 {source="MONDO:superClassOf", source="Orphanet:79143/btnt", source="Orphanet:79143"} +xref: OMIM:206800 {source="MONDO:superClassOf", source="Orphanet:79143/btnt", source="Orphanet:79143"} +xref: OMIM:614149 {source="MONDO:superClassOf", source="Orphanet:79143/btnt", source="Orphanet:79143"} xref: Orphanet:79143 {source="MONDO:equivalentTo"} xref: UMLS:C0265998 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79143"} is_a: MONDO:0019284 {source="Orphanet:79143"} ! inherited isolated nail anomaly @@ -369255,18 +369093,18 @@ name: disseminated superficial actinic porokeratosis def: "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." [Orphanet:79152] subset: ordo_disease {source="Orphanet:79152"} xref: GARD:0010983 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="ORDO:79152/attributed", source="ORDO:79152/ntbt", source="Orphanet:79152"} +xref: ICD10CM:Q82.8 {source="Orphanet:79152", source="Orphanet:79152/attributed", source="Orphanet:79152/ntbt"} xref: ICD9:692.75 {source="MONDO:equivalentTo", source="i2s"} -xref: OMIM:175900 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} -xref: OMIM:607728 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} -xref: OMIM:612293 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} -xref: OMIM:612353 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} -xref: OMIM:614714 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} -xref: OMIM:616063 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} -xref: OMIM:616631 {source="MONDO:superClassOf", source="ORDO:79152/btnt", source="Orphanet:79152"} +xref: OMIM:175900 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} +xref: OMIM:607728 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} +xref: OMIM:612293 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} +xref: OMIM:612353 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} +xref: OMIM:614714 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} +xref: OMIM:616063 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} +xref: OMIM:616631 {source="MONDO:superClassOf", source="Orphanet:79152", source="Orphanet:79152/btnt"} xref: Orphanet:79152 {source="MONDO:equivalentTo"} xref: SCTID:41495000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265970 {source="ORDO:79152/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79152"} +xref: UMLS:C0265970 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79152", source="Orphanet:79152/e"} is_a: MONDO:0000001 {source="Orphanet:79152", source="Orphanet:79152/inferred"} ! disease or disorder is_a: MONDO:0006602 {source="Orphanet:79152", source="linkedlifedata"} ! porokeratosis relationship: has_modifier MONDO:0021136 {source="MONDO:0015946"} ! rare @@ -369303,13 +369141,13 @@ synonym: "rare inborn error of carbohydrate metabolic process" EXACT [MONDO:patt xref: DOID:2978 {source="MONDO:equivalentTo"} xref: EFO:1000061 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="DOID:2978"} -xref: MedDRA:10061023 {source="ORDO:79161/e", source="Orphanet:79161"} +xref: MedDRA:10061023 {source="Orphanet:79161", source="Orphanet:79161/e"} xref: MESH:D002239 {source="MONDO:equivalentTo", source="DOID:2978"} xref: NCIT:C97089 {source="MONDO:equivalentTo"} xref: Orphanet:79161 {source="MONDO:equivalentTo"} xref: UMLS:C0007001 {source="MONDO:notFoundInDiseaseSubset", source="DOID:2978"} xref: UMLS:C0029777 {source="MONDO:notFoundInDiseaseSubset", source="DOID:2978"} -xref: UMLS:C0149670 {source="ORDO:79161/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79161"} +xref: UMLS:C0149670 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79161", source="Orphanet:79161/e"} is_a: MONDO:0019052 {source="DOID:2978", source="MESH:D002239", source="MONDO:Redundant", source="Orphanet:79161"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process @@ -369330,11 +369168,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79166"} synonym: "disorder of amino acid absorption and transport" RELATED [Orphanet:79166] synonym: "disorder of amino acid transport" RELATED [] -xref: ICD10CM:E72.0 {source="ORDO:79166/e", source="Orphanet:79166", source="ORDO:79166/specific"} +xref: ICD10CM:E72.0 {source="Orphanet:79166/e", source="Orphanet:79166/specific", source="Orphanet:79166"} xref: ICD9:270.0 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:79166 {source="MONDO:equivalentTo"} xref: SCTID:16784003 {source="MONDO:equivalentTo"} -xref: UMLS:C0268641 {source="MONDO:equivalentTo", source="ORDO:79166/e", source="Orphanet:79166"} +xref: UMLS:C0268641 {source="Orphanet:79166/e", source="MONDO:equivalentTo", source="Orphanet:79166"} is_a: MONDO:0019189 {source="Orphanet:79166", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism [Term] @@ -369404,7 +369242,7 @@ synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED synonym: "inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn sulfur amino acid metabolic process disorder" EXACT [] synonym: "rare inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E72.1 {source="ORDO:79173/attributed", source="ORDO:79173/ntbt", source="Orphanet:79173"} +xref: ICD10CM:E72.1 {source="Orphanet:79173", source="Orphanet:79173/attributed", source="Orphanet:79173/ntbt"} xref: ICD9:270.4 {source="i2s"} xref: Orphanet:79173 {source="MONDO:equivalentTo"} xref: SCTID:28882002 {source="MONDO:equivalentTo"} @@ -369419,7 +369257,7 @@ name: inborn disorder of fatty acid oxidation and ketone body metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79174"} synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [Orphanet:79174] -xref: ICD10CM:E71.3 {source="ORDO:79174/attributed", source="ORDO:79174/ntbt", source="Orphanet:79174"} +xref: ICD10CM:E71.3 {source="Orphanet:79174", source="Orphanet:79174/attributed", source="Orphanet:79174/ntbt"} xref: Orphanet:79174 {source="MONDO:equivalentTo"} xref: UMLS:CN227590 {source="MONDO:equivalentTo"} is_a: MONDO:0019243 {source="Orphanet:79174"} ! inborn disorder of energy metabolism @@ -369435,7 +369273,7 @@ synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:7917 synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT [] synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E72.8 {source="ORDO:79175/attributed", source="ORDO:79175/ntbt", source="Orphanet:79175"} +xref: ICD10CM:E72.8 {source="Orphanet:79175", source="Orphanet:79175/attributed", source="Orphanet:79175/ntbt"} xref: Orphanet:79175 {source="MONDO:equivalentTo"} xref: UMLS:CN227591 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79175"} ! inborn disorder of biogenic amine metabolism and transport @@ -369451,7 +369289,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79177"} synonym: "inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gluconeogenesis disorder" EXACT [] synonym: "rare inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E74.4 {source="ORDO:79177/attributed", source="ORDO:79177/ntbt", source="Orphanet:79177"} +xref: ICD10CM:E74.4 {source="Orphanet:79177", source="Orphanet:79177/attributed", source="Orphanet:79177/ntbt"} xref: Orphanet:79177 {source="MONDO:equivalentTo"} xref: UMLS:CN227592 {source="MONDO:equivalentTo"} is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79177"} ! inborn carbohydrate metabolic disorder @@ -369466,7 +369304,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79178"} synonym: "inborn error of glucose transport" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of glucose transport" RELATED [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E74.8 {source="ORDO:79178/attributed", source="ORDO:79178/ntbt", source="Orphanet:79178"} +xref: ICD10CM:E74.8 {source="Orphanet:79178/attributed", source="Orphanet:79178/ntbt", source="Orphanet:79178"} xref: Orphanet:79178 {source="MONDO:equivalentTo"} xref: UMLS:CN227593 {source="MONDO:equivalentTo"} is_a: MONDO:0017706 {source="Orphanet:79178"} ! disorder of carbohydrate absorption and transport @@ -369484,7 +369322,7 @@ synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inbo synonym: "inborn glycerol metabolic process disorder" EXACT [] synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: Orphanet:79179 {source="MONDO:equivalentTo"} -xref: UMLS:C0342762 {source="MONDO:relatedTo", source="ORDO:79179/e", source="Orphanet:79179"} +xref: UMLS:C0342762 {source="Orphanet:79179/e", source="MONDO:relatedTo", source="Orphanet:79179"} is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79179"} ! inborn carbohydrate metabolic disorder intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006071 ! glycerol metabolic process @@ -369505,12 +369343,12 @@ synonym: "rare inborn error of histidine metabolic process" EXACT [MONDO:pattern xref: DOID:9265 {source="MONDO:equivalentTo"} xref: ICD10CM:E70.4 {source="DOID:9265"} xref: ICD10CM:E70.40 {source="MONDO:equivalentTo", source="DOID:9265"} -xref: ICD10CM:E70.8 {source="Orphanet:79181", source="ORDO:79181/inclusion", source="ORDO:79181/ntbt"} +xref: ICD10CM:E70.8 {source="Orphanet:79181/inclusion", source="Orphanet:79181/ntbt", source="Orphanet:79181"} xref: ICD9:270.5 {source="DOID:9265"} xref: Orphanet:79181 {source="MONDO:equivalentTo"} xref: SCTID:190715008 {source="DOID:9265"} xref: SCTID:44176004 {source="MONDO:relatedTo", source="DOID:9265"} -xref: UMLS:C0268512 {source="ORDO:79181/e", source="MONDO:relatedTo", source="Orphanet:79181", source="DOID:9265"} +xref: UMLS:C0268512 {source="MONDO:relatedTo", source="Orphanet:79181", source="DOID:9265", source="Orphanet:79181/e"} is_a: MONDO:0004736 {source="DOID:9265", source="MONDO:Entailed", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder is_a: MONDO:0019189 {source="Orphanet:79181", source="indirect"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism @@ -369526,7 +369364,7 @@ synonym: "disorder of ketolysis" BROAD [Orphanet:79183] synonym: "inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn ketone body catabolic process disorder" EXACT [] synonym: "rare inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E71.3 {source="Orphanet:79183", source="ORDO:79183/attributed", source="ORDO:79183/ntbt"} +xref: ICD10CM:E71.3 {source="Orphanet:79183", source="Orphanet:79183/attributed", source="Orphanet:79183/ntbt"} xref: Orphanet:79183 {source="MONDO:equivalentTo"} xref: UMLS:CN227594 {source="MONDO:equivalentTo"} is_a: MONDO:0019223 {source="Orphanet:79183"} ! inborn disorder of fatty acid oxidation and ketone body metabolism @@ -369549,7 +369387,7 @@ name: inborn disorder of pentose phosphate metabolism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79186"} synonym: "disorder of pentose phosphate metabolism" RELATED [Orphanet:79186] -xref: ICD10CM:E74.8 {source="ORDO:79186/attributed", source="ORDO:79186/ntbt", source="Orphanet:79186"} +xref: ICD10CM:E74.8 {source="Orphanet:79186", source="Orphanet:79186/attributed", source="Orphanet:79186/ntbt"} xref: Orphanet:79186 {source="MONDO:equivalentTo"} xref: UMLS:CN227596 {source="MONDO:equivalentTo"} is_a: MONDO:0018605 {source="Orphanet:79186"} ! disorders of pentose/polyol metabolism @@ -369572,7 +369410,7 @@ subset: gard_rare {source="GARD:0012470"} subset: ordo_group_of_disorders {source="Orphanet:79188"} synonym: "disorder of peroxisomal beta oxidation" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/] xref: GARD:0012470 {source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="ORDO:79188/attributed", source="ORDO:79188/ntbt", source="Orphanet:79188"} +xref: ICD10CM:E71.3 {source="Orphanet:79188", source="Orphanet:79188/attributed", source="Orphanet:79188/ntbt"} xref: Orphanet:79188 {source="MONDO:equivalentTo"} xref: UMLS:CN227598 {source="MONDO:equivalentTo"} is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect @@ -369606,12 +369444,12 @@ xref: DOID:0080377 {source="MONDO:equivalentTo"} xref: GARD:0009473 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: GARD:0011890 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C531857 {source="MONDO:equivalentTo"} -xref: MESH:C536664 {source="MONDO:equivalentTo", source="ORDO:79189/e", source="Orphanet:79189"} +xref: MESH:C536664 {source="Orphanet:79189/e", source="MONDO:equivalentTo", source="Orphanet:79189"} xref: NCIT:C146639 {source="MONDO:equivalentTo", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} xref: OMIMPS:214100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79189 {source="MONDO:equivalentTo"} xref: SCTID:742876007 {source="MONDO:equivalentTo"} -xref: UMLS:C1832200 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79189/e", source="Orphanet:79189"} +xref: UMLS:C1832200 {source="Orphanet:79189/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79189"} is_a: MONDO:0002254 {source="NCIT:C85239"} ! syndromic disease is_a: MONDO:0005066 {source="Orphanet:79189"} ! metabolic disease is_a: MONDO:0019046 {source="NCIT:C146639", source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy @@ -369643,9 +369481,9 @@ synonym: "disorder of purine metabolism" RELATED [Orphanet:79191] synonym: "inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn purine nucleobase metabolic process disorder" EXACT [] synonym: "rare inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: MedDRA:10061476 {source="ORDO:79191/e", source="Orphanet:79191"} +xref: MedDRA:10061476 {source="Orphanet:79191", source="Orphanet:79191/e"} xref: Orphanet:79191 {source="MONDO:equivalentTo"} -xref: UMLS:C0268104 {source="ORDO:79191/e", source="Orphanet:79191", source="MONDO:relatedTo"} +xref: UMLS:C0268104 {source="Orphanet:79191", source="MONDO:relatedTo", source="Orphanet:79191/e"} is_a: MONDO:0019254 {source="Orphanet:79191"} ! inborn disorder of purine or pyrimidine metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006144 ! purine nucleobase metabolic process @@ -369660,7 +369498,7 @@ synonym: "disorder of pyridoxine metabolism" RELATED [Orphanet:79192] synonym: "inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyridoxine metabolic process disorder" EXACT [] synonym: "rare inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:G40.8 {source="Orphanet:79192", source="ORDO:79192/attributed", source="ORDO:79192/ntbt"} +xref: ICD10CM:G40.8 {source="Orphanet:79192/attributed", source="Orphanet:79192/ntbt", source="Orphanet:79192"} xref: Orphanet:79192 {source="MONDO:equivalentTo"} xref: UMLS:CN227600 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79192"} ! inborn disorder of biogenic amine metabolism and transport @@ -369679,9 +369517,9 @@ synonym: "inborn pyrimidine nucleobase metabolic process disorder" EXACT [] synonym: "pyrimidine metabolic disorder" EXACT [MONDO:0000475] synonym: "rare inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050832 {source="MONDO:equivalentTo"} -xref: MedDRA:10070969 {source="ORDO:79193/e", source="Orphanet:79193"} +xref: MedDRA:10070969 {source="Orphanet:79193", source="Orphanet:79193/e"} xref: Orphanet:79193 {source="MONDO:equivalentTo"} -xref: UMLS:C0268127 {source="MONDO:relatedTo", source="ORDO:79193/e", source="Orphanet:79193"} +xref: UMLS:C0268127 {source="MONDO:relatedTo", source="Orphanet:79193", source="Orphanet:79193/e"} is_a: MONDO:0019254 {source="Orphanet:79193"} ! inborn disorder of purine or pyrimidine metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006206 ! pyrimidine nucleobase metabolic process @@ -369727,10 +369565,10 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79196"} synonym: "disorder of gamma-glutamyl cycle" RELATED [] synonym: "disorder of the gamma-glutamyl cycle" RELATED [Orphanet:79196] -xref: ICD10CM:E72.8 {source="ORDO:79196/ntbt", source="Orphanet:79196", source="ORDO:79196/inclusion"} +xref: ICD10CM:E72.8 {source="Orphanet:79196/inclusion", source="Orphanet:79196", source="Orphanet:79196/ntbt"} xref: Orphanet:79196 {source="MONDO:equivalentTo"} xref: SCTID:9128006 {source="MONDO:equivalentTo"} -xref: UMLS:C0268517 {source="ORDO:79196/e", source="MONDO:equivalentTo", source="Orphanet:79196"} +xref: UMLS:C0268517 {source="MONDO:equivalentTo", source="Orphanet:79196", source="Orphanet:79196/e"} is_a: MONDO:0019189 {source="Orphanet:79196", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism [Term] @@ -369746,12 +369584,12 @@ synonym: "disorder of branched-chain amino acid metabolism" EXACT [Orphanet:7919 synonym: "inborn branched-chain amino acid metabolic process disorder" EXACT [] synonym: "inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: ICD10CM:E71.0 {source="ORDO:79197/btnt", source="MONDO:superClassOf", source="Orphanet:79197", source="ORDO:79197/specific"} -xref: ICD10CM:E71.1 {source="ORDO:79197/btnt", source="Orphanet:79197", source="ORDO:79197/specific"} -xref: ICD10CM:E71.2 {source="ORDO:79197/btnt", source="Orphanet:79197", source="ORDO:79197/specific"} +xref: ICD10CM:E71.0 {source="MONDO:superClassOf", source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"} +xref: ICD10CM:E71.1 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"} +xref: ICD10CM:E71.2 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"} xref: Orphanet:79197 {source="MONDO:equivalentTo"} xref: SCTID:116020001 {source="MONDO:equivalentTo"} -xref: UMLS:C0342712 {source="MONDO:equivalentTo", source="ORDO:79197/e", source="Orphanet:79197"} +xref: UMLS:C0342712 {source="MONDO:equivalentTo", source="Orphanet:79197", source="Orphanet:79197/e"} is_a: MONDO:0019189 {source="Orphanet:79197", source="indirect", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0009081 ! branched-chain amino acid metabolic process @@ -369796,8 +369634,8 @@ synonym: "lipoidoses" RELATED [] synonym: "lipoidosis" RELATED [DOID:9455] synonym: "rare inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9455 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.5 {source="Orphanet:79204", source="ORDO:79204/attributed", source="ORDO:79204/ntbt"} -xref: ICD10CM:E75.6 {source="Orphanet:79204", source="DOID:9455", source="ORDO:79204/attributed", source="ORDO:79204/ntbt"} +xref: ICD10CM:E75.5 {source="Orphanet:79204", source="Orphanet:79204/attributed", source="Orphanet:79204/ntbt"} +xref: ICD10CM:E75.6 {source="Orphanet:79204", source="Orphanet:79204/attributed", source="Orphanet:79204/ntbt", source="DOID:9455"} xref: ICD9:272.7 {source="MONDO:equivalentTo", source="i2s", source="DOID:9455"} xref: ICD9:272.8 {source="DOID:9455"} xref: MESH:D008064 {source="MONDO:equivalentTo", source="DOID:9455"} @@ -369845,11 +369683,11 @@ def: "A group of inherited lysosomal storage diseases characterized by accumulat subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79212"} xref: DOID:0080488 {source="MONDO:equivalentTo"} -xref: MESH:D009081 {source="MONDO:equivalentTo", source="ORDO:79212/e", source="Orphanet:79212"} +xref: MESH:D009081 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212"} xref: NCIT:C61267 {source="MONDO:equivalentTo"} xref: Orphanet:79212 {source="MONDO:equivalentTo"} xref: SCTID:70528007 {source="MONDO:equivalentTo"} -xref: UMLS:C0026697 {source="MONDO:equivalentTo", source="ORDO:79212/e", source="Orphanet:79212", source="NCIT:C61267"} +xref: UMLS:C0026697 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212", source="NCIT:C61267"} is_a: MONDO:0002561 {source="MONDO:Redundant", source="NCIT:C61267", source="Orphanet:79212/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0015327 {source="Orphanet:79212"} ! developmental anomaly of metabolic origin is_a: MONDO:0017731 {source="Orphanet:79212"} ! glycoproteinosis @@ -369866,13 +369704,13 @@ synonym: "mucopolysaccharidoses" EXACT [OMIMPS:607014] synonym: "mucopolysaccharidosis" EXACT [NCIT:C61259] xref: DOID:12798 {source="MONDO:equivalentTo"} xref: GARD:0007065 {source="MONDO:equivalentTo"} -xref: ICD10CM:E76.0 {source="ORDO:79213/btnt", source="ORDO:79213/specific", source="Orphanet:79213"} -xref: ICD10CM:E76.1 {source="ORDO:79213/btnt", source="MONDO:superClassOf", source="ORDO:79213/specific", source="Orphanet:79213"} -xref: ICD10CM:E76.2 {source="ORDO:79213/btnt", source="ORDO:79213/specific", source="Orphanet:79213"} -xref: ICD10CM:E76.3 {source="DOID:12798", source="ORDO:79213/btnt", source="ORDO:79213/specific", source="Orphanet:79213"} +xref: ICD10CM:E76.0 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} +xref: ICD10CM:E76.1 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="MONDO:superClassOf", source="Orphanet:79213"} +xref: ICD10CM:E76.2 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} +xref: ICD10CM:E76.3 {source="Orphanet:79213/specific", source="DOID:12798", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: ICD9:277.5 {source="DOID:12798", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028093 {source="ORDO:79213/e", source="Orphanet:79213"} -xref: MESH:D009083 {source="DOID:12798", source="MONDO:equivalentTo", source="ORDO:79213/e", source="Orphanet:79213"} +xref: MedDRA:10028093 {source="Orphanet:79213/e", source="Orphanet:79213"} +xref: MESH:D009083 {source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"} xref: NCIT:C61259 {source="DOID:12798", source="MONDO:equivalentTo"} xref: OMIM:252700 {source="DOID:12798", source="MONDO:superClassOf"} xref: OMIMPS:607014 {source="MONDO:equivalentTo"} @@ -369881,7 +369719,7 @@ xref: SCTID:11380006 {source="DOID:12798", source="MONDO:equivalentTo"} xref: SCTID:190936000 {source="DOID:12798"} xref: SCTID:190942001 {source="DOID:12798"} xref: SCTID:267452003 {source="DOID:12798"} -xref: UMLS:C0026703 {source="NCIT:C61259", source="DOID:12798", source="MONDO:equivalentTo", source="ORDO:79213/e", source="Orphanet:79213"} +xref: UMLS:C0026703 {source="NCIT:C61259", source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"} is_a: MONDO:0002561 {source="DOID:12798", source="MESH:D009083", source="NCIT:C61259", source="Orphanet:79213", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015327 {source="Orphanet:79213"} ! developmental anomaly of metabolic origin @@ -369906,7 +369744,7 @@ id: MONDO:0019251 name: oligosaccharidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79215"} -xref: ICD10CM:E77.1 {source="Orphanet:79215", source="ORDO:79215/attributed", source="ORDO:79215/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:79215", source="Orphanet:79215/attributed", source="Orphanet:79215/ntbt"} xref: Orphanet:79215 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="Orphanet:79215"} ! developmental anomaly of metabolic origin is_a: MONDO:0017731 {source="Orphanet:79215"} ! glycoproteinosis @@ -369944,20 +369782,20 @@ synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [DOID:653] synonym: "inborn purine-pyrimidine metabolic disorder" EXACT [MONDO:0003914] synonym: "purine-pyrimidine metabolic disorder" RELATED [DOID:653] xref: DOID:653 {source="MONDO:equivalentTo"} -xref: ICD10CM:E79.0 {source="ORDO:79224/btnt", source="ORDO:79224/specific", source="Orphanet:79224"} -xref: ICD10CM:E79.1 {source="ORDO:79224/btnt", source="MONDO:superClassOf", source="ORDO:79224/specific", source="Orphanet:79224"} -xref: ICD10CM:E79.8 {source="ORDO:79224/btnt", source="ORDO:79224/specific", source="DOID:653", source="Orphanet:79224"} -xref: ICD10CM:E79.9 {source="ORDO:79224/btnt", source="ORDO:79224/specific", source="Orphanet:79224"} +xref: ICD10CM:E79.0 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"} +xref: ICD10CM:E79.1 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="MONDO:superClassOf", source="Orphanet:79224"} +xref: ICD10CM:E79.8 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="DOID:653", source="Orphanet:79224"} +xref: ICD10CM:E79.9 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"} xref: ICD9:277.2 {source="DOID:653"} -xref: MedDRA:10037546 {source="ORDO:79224/e", source="Orphanet:79224"} -xref: MESH:D011686 {source="MONDO:equivalentTo", source="ORDO:79224/e", source="Orphanet:79224"} +xref: MedDRA:10037546 {source="Orphanet:79224/e", source="Orphanet:79224"} +xref: MESH:D011686 {source="Orphanet:79224/e", source="MONDO:equivalentTo", source="Orphanet:79224"} xref: Orphanet:79224 {source="MONDO:equivalentTo"} xref: SCTID:190917005 {source="DOID:653"} xref: SCTID:190922005 {source="DOID:653"} xref: SCTID:191109006 {source="DOID:653"} xref: SCTID:267450006 {source="DOID:653"} xref: UMLS:C0029595 {source="MONDO:notFoundInDiseaseSubset", source="DOID:653"} -xref: UMLS:C0034139 {source="MONDO:equivalentTo", source="ORDO:79224/e", source="Orphanet:79224"} +xref: UMLS:C0034139 {source="Orphanet:79224/e", source="MONDO:equivalentTo", source="Orphanet:79224"} is_a: MONDO:0019052 {source="DOID:653", source="MESH:D011686", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:79224"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_disrupts GO:0009117 ! nucleotide metabolic process @@ -369974,16 +369812,16 @@ synonym: "sphingolipidoses" EXACT [DOID:1927] synonym: "sphingolipidosis, NOS" RELATED EXCLUDE [DOID:1927] xref: DOID:1927 {source="MONDO:equivalentTo"} xref: GARD:0007672 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.0 {source="MONDO:superClassOf", source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"} -xref: ICD10CM:E75.1 {source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"} -xref: ICD10CM:E75.2 {source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"} -xref: ICD10CM:E75.3 {source="DOID:1927", source="ORDO:79225/specific", source="ORDO:79225/btnt", source="Orphanet:79225"} -xref: MESH:D013106 {source="DOID:1927", source="MONDO:equivalentTo", source="ORDO:79225/e", source="Orphanet:79225"} +xref: ICD10CM:E75.0 {source="Orphanet:79225/specific", source="MONDO:superClassOf", source="Orphanet:79225/btnt", source="Orphanet:79225"} +xref: ICD10CM:E75.1 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} +xref: ICD10CM:E75.2 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} +xref: ICD10CM:E75.3 {source="DOID:1927", source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} +xref: MESH:D013106 {source="DOID:1927", source="Orphanet:79225/e", source="MONDO:equivalentTo", source="Orphanet:79225"} xref: NCIT:C117254 {source="DOID:1927", source="MONDO:equivalentTo"} xref: Orphanet:79225 {source="MONDO:equivalentTo"} xref: SCTID:238028008 {source="DOID:1927", source="MONDO:equivalentTo"} xref: SCTID:58459009 {source="DOID:1927", source="MONDO:superClassOf"} -xref: UMLS:C0037899 {source="DOID:1927", source="NCIT:C117254", source="MONDO:equivalentTo", source="ORDO:79225/e", source="Orphanet:79225"} +xref: UMLS:C0037899 {source="DOID:1927", source="NCIT:C117254", source="Orphanet:79225/e", source="MONDO:equivalentTo", source="Orphanet:79225"} is_a: MONDO:0002525 {source="MONDO:Entailed", source="NCIT:C117254", source="indirect"} ! inherited lipid metabolism disorder is_a: MONDO:0019245 {source="DOID:1927", source="MESH:D013106", source="MONDO:Redundant", source="PMID:21502308"} ! lysosomal lipid storage disorder intersection_of: MONDO:0019245 ! lysosomal lipid storage disorder @@ -370017,10 +369855,10 @@ synonym: "JHH" EXACT ABBREVIATION [DOID:0111034] synonym: "juvenile hemochromatosis" EXACT [DOID:0111034, Orphanet:79230] xref: DOID:0111034 {source="MONDO:equivalentTo"} xref: GARD:0010092 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="ORDO:79230/attributed", source="ORDO:79230/ntbt", source="Orphanet:79230", source="DOID:0111034"} -xref: MESH:C537247 {source="MONDO:equivalentTo", source="ORDO:79230/e", source="Orphanet:79230", source="DOID:0111034"} -xref: OMIM:602390 {source="MONDO:superClassOf", source="ORDO:79230/e", source="Orphanet:79230"} -xref: OMIM:613313 {source="ORDO:79230/btnt", source="MONDO:superClassOf", source="Orphanet:79230"} +xref: ICD10CM:E83.1 {source="MONDO:subClassOf", source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/attributed", source="Orphanet:79230/ntbt"} +xref: MESH:C537247 {source="MONDO:equivalentTo", source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/e"} +xref: OMIM:602390 {source="MONDO:superClassOf", source="Orphanet:79230", source="Orphanet:79230/e"} +xref: OMIM:613313 {source="MONDO:superClassOf", source="Orphanet:79230", source="Orphanet:79230/btnt"} xref: Orphanet:79230 {source="MONDO:equivalentTo", source="DOID:0111034"} xref: SCTID:50855007 {source="MONDO:equivalentTo"} xref: UMLS:C0268060 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79230"} @@ -370039,7 +369877,7 @@ synonym: "mPKU" EXACT [Orphanet:79253] synonym: "variant phenylketonuria" EXACT [Orphanet:79253] synonym: "variant PKU" EXACT [Orphanet:79253] xref: GARD:0010324 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.1 {source="ORDO:79253/attributed", source="ORDO:79253/ntbt", source="Orphanet:79253"} +xref: ICD10CM:E70.1 {source="Orphanet:79253/attributed", source="Orphanet:79253/ntbt", source="Orphanet:79253"} xref: Orphanet:79253 {source="MONDO:equivalentTo"} xref: UMLS:C0543528 {source="GARD:0010324", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0009861 {source="Orphanet:79253"} ! phenylketonuria @@ -370052,10 +369890,10 @@ name: classic phenylketonuria def: "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." [https://www.nichd.nih.gov/publications/pubs/pku/sub3, Orphanet:79254] subset: ordo_clinical_subtype {source="Orphanet:79254"} synonym: "classic PKU" EXACT [Orphanet:79254] -xref: ICD10CM:E70.0 {source="ORDO:79254/e", source="Orphanet:79254", source="ORDO:79254/specific"} -xref: MedDRA:10034875 {source="ORDO:79254/e", source="Orphanet:79254"} +xref: ICD10CM:E70.0 {source="Orphanet:79254/e", source="Orphanet:79254/specific", source="Orphanet:79254"} +xref: MedDRA:10034875 {source="Orphanet:79254/e", source="Orphanet:79254"} xref: Orphanet:79254 {source="MONDO:equivalentTo"} -xref: UMLS:C0751434 {source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79254/e", source="Orphanet:79254"} +xref: UMLS:C0751434 {source="Orphanet:79254/e", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79254"} is_a: MONDO:0009861 {source="Orphanet:79254"} ! phenylketonuria relationship: has_modifier HP:0000007 {source="Orphanet:79254"} ! Autosomal recessive inheritance property_value: confidence "0.4204545454545452" xsd:double @@ -370076,19 +369914,19 @@ synonym: "Kufs disease" EXACT [Orphanet:79262] synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973] synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:0010973 {source="MONDO:equivalentTo"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:79262/attributed", source="ORDO:79262/ntbt", source="Orphanet:79262"} -xref: MESH:C537950 {source="ORDO:79262/e", source="Orphanet:79262"} -xref: OMIM:162350 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} -xref: OMIM:204300 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} -xref: OMIM:256730 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} -xref: OMIM:601780 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} -xref: OMIM:610127 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} -xref: OMIM:614706 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} -xref: OMIM:615362 {source="MONDO:superClassOf", source="ORDO:79262/btnt", source="Orphanet:79262"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:79262", source="Orphanet:79262/attributed", source="Orphanet:79262/ntbt"} +xref: MESH:C537950 {source="Orphanet:79262", source="Orphanet:79262/e"} +xref: OMIM:162350 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} +xref: OMIM:204300 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} +xref: OMIM:256730 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} +xref: OMIM:601780 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} +xref: OMIM:610127 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} +xref: OMIM:614706 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} +xref: OMIM:615362 {source="MONDO:superClassOf", source="Orphanet:79262", source="Orphanet:79262/btnt"} xref: Orphanet:79262 {source="MONDO:equivalentTo"} xref: SCTID:62009002 {source="MONDO:equivalentTo"} -xref: UMLS:C0022797 {source="ORDO:79262/e", source="MONDO:equivalentTo", source="Orphanet:79262"} -xref: UMLS:C2931675 {source="ORDO:79262/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79262"} +xref: UMLS:C0022797 {source="MONDO:equivalentTo", source="Orphanet:79262", source="Orphanet:79262/e"} +xref: UMLS:C2931675 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79262", source="Orphanet:79262/e"} xref: UMLS:CN205864 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="MONDO:Redundant", source="Orphanet:79262", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="Orphanet:79262"} ! progressive myoclonus epilepsy @@ -370108,14 +369946,14 @@ synonym: "INCL" EXACT ABBREVIATION [Orphanet:79263] synonym: "infantile NCL" EXACT [Orphanet:79263] synonym: "Santavuori disease" EXACT [Orphanet:79263] synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263] -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:79263/attributed", source="ORDO:79263/ntbt", source="Orphanet:79263"} -xref: MESH:C537948 {source="ORDO:79263/e", source="Orphanet:79263"} -xref: OMIM:214200 {source="ORDO:79263/btnt", source="MONDO:superClassOf", source="Orphanet:79263"} -xref: OMIM:256730 {source="ORDO:79263/btnt", source="MONDO:superClassOf", source="Orphanet:79263"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:79263", source="Orphanet:79263/attributed", source="Orphanet:79263/ntbt"} +xref: MESH:C537948 {source="Orphanet:79263", source="Orphanet:79263/e"} +xref: OMIM:214200 {source="MONDO:superClassOf", source="Orphanet:79263", source="Orphanet:79263/btnt"} +xref: OMIM:256730 {source="MONDO:superClassOf", source="Orphanet:79263", source="Orphanet:79263/btnt"} xref: Orphanet:79263 {source="MONDO:equivalentTo"} xref: SCTID:58258004 {source="MONDO:equivalentTo"} -xref: UMLS:C0268281 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79263/e", source="Orphanet:79263"} -xref: UMLS:C2931673 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79263/e", source="Orphanet:79263"} +xref: UMLS:C0268281 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79263", source="Orphanet:79263/e"} +xref: UMLS:C2931673 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79263", source="Orphanet:79263/e"} is_a: MONDO:0016295 {source="Orphanet:79263", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="Orphanet:79263"} ! progressive myoclonus epilepsy is_a: MONDO:0020143 {source="Orphanet:79263"} ! cerebral lipidosis with dementia @@ -370135,14 +369973,14 @@ synonym: "juvenile NCL" EXACT [Orphanet:79264] synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0050756] synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264] xref: DOID:0050756 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="ORDO:79264/attributed", source="ORDO:79264/ntbt", source="Orphanet:79264"} -xref: MedDRA:10052073 {source="ORDO:79264/e", source="Orphanet:79264"} -xref: OMIM:204200 {source="ORDO:79264/btnt", source="MONDO:superClassOf", source="Orphanet:79264"} -xref: OMIM:204500 {source="ORDO:79264/btnt", source="MONDO:superClassOf", source="Orphanet:79264"} -xref: OMIM:256730 {source="ORDO:79264/btnt", source="MONDO:superClassOf", source="Orphanet:79264"} -xref: OMIM:600143 {source="ORDO:79264/btnt", source="MONDO:superClassOf", source="Orphanet:79264"} -xref: OMIM:609055 {source="ORDO:79264/btnt", source="MONDO:superClassOf", source="Orphanet:79264"} -xref: OMIM:610127 {source="ORDO:79264/btnt", source="MONDO:superClassOf", source="Orphanet:79264"} +xref: ICD10CM:E75.4 {source="MONDO:subClassOf", source="Orphanet:79264/attributed", source="Orphanet:79264/ntbt", source="Orphanet:79264"} +xref: MedDRA:10052073 {source="Orphanet:79264/e", source="Orphanet:79264"} +xref: OMIM:204200 {source="MONDO:superClassOf", source="Orphanet:79264/btnt", source="Orphanet:79264"} +xref: OMIM:204500 {source="MONDO:superClassOf", source="Orphanet:79264/btnt", source="Orphanet:79264"} +xref: OMIM:256730 {source="MONDO:superClassOf", source="Orphanet:79264/btnt", source="Orphanet:79264"} +xref: OMIM:600143 {source="MONDO:superClassOf", source="Orphanet:79264/btnt", source="Orphanet:79264"} +xref: OMIM:609055 {source="MONDO:superClassOf", source="Orphanet:79264/btnt", source="Orphanet:79264"} +xref: OMIM:610127 {source="MONDO:superClassOf", source="Orphanet:79264/btnt", source="Orphanet:79264"} xref: Orphanet:79264 {source="MONDO:equivalentTo"} xref: SCTID:61663001 {source="MONDO:equivalentTo"} xref: UMLS:C0751383 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79264"} @@ -370160,12 +369998,12 @@ name: autosomal erythropoietic protoporphyria def: "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." [Orphanet:79278] subset: ordo_disease {source="Orphanet:79278"} synonym: "EPP" EXACT ABBREVIATION [Orphanet:79278] -xref: ICD10CM:E80.0 {source="ORDO:79278/inclusion", source="ORDO:79278/ntbt", source="Orphanet:79278"} -xref: MedDRA:10015289 {source="ORDO:79278/e", source="Orphanet:79278"} -xref: MESH:D046351 {source="MONDO:subClassOf", source="ORDO:79278/e", source="Orphanet:79278"} -xref: OMIM:177000 {source="MONDO:superClassOf", source="ORDO:79278/e", source="Orphanet:79278"} +xref: ICD10CM:E80.0 {source="Orphanet:79278/ntbt", source="Orphanet:79278/inclusion", source="Orphanet:79278"} +xref: MedDRA:10015289 {source="Orphanet:79278/e", source="Orphanet:79278"} +xref: MESH:D046351 {source="MONDO:subClassOf", source="Orphanet:79278/e", source="Orphanet:79278"} +xref: OMIM:177000 {source="Orphanet:79278/e", source="MONDO:superClassOf", source="Orphanet:79278"} xref: Orphanet:79278 {source="MONDO:equivalentTo"} -xref: UMLS:C0162568 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79278/e", source="Orphanet:79278"} +xref: UMLS:C0162568 {source="Orphanet:79278/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79278"} is_a: MONDO:0001676 {source="MONDO:cjm"} ! erythropoietic protoporphyria [Term] @@ -370175,8 +370013,8 @@ def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinica subset: ordo_clinical_subtype {source="Orphanet:79281"} synonym: "NAGA deficiency type 3" EXACT [Orphanet:79281] synonym: "Schindler disease type 3" EXACT [Orphanet:79281] -xref: ICD10CM:E77.1 {source="Orphanet:79281", source="ORDO:79281/attributed", source="ORDO:79281/ntbt"} -xref: OMIM:609241 {source="MONDO:subClassOf", source="Orphanet:79281", source="ORDO:79281/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:E77.1 {source="Orphanet:79281/attributed", source="Orphanet:79281/ntbt", source="Orphanet:79281"} +xref: OMIM:609241 {source="MONDO:subClassOf", source="Orphanet:79281/ntbt", source="Orphanet:79281", source="MONDO:directSiblingOf"} xref: Orphanet:79281 {source="MONDO:equivalentTo"} xref: UMLS:C1836545 {source="Orphanet:79281", source="MONDO:equivalentTo"} is_a: MONDO:0017779 {source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency @@ -370189,7 +370027,7 @@ def: "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resi subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79298"} synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" EXACT [Orphanet:79298] -xref: ICD10CM:E16.1 {source="ORDO:79298/attributed", source="ORDO:79298/ntbt", source="Orphanet:79298"} +xref: ICD10CM:E16.1 {source="Orphanet:79298", source="Orphanet:79298/attributed", source="Orphanet:79298/ntbt"} xref: Orphanet:79298 {source="MONDO:equivalentTo"} is_a: MONDO:0017186 {source="Orphanet:79298"} ! diazoxide-resistant hyperinsulinism @@ -370210,9 +370048,9 @@ synonym: "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" EXACT [Orpha xref: DOID:13677 {source="EFO:1001164", source="MONDO:equivalentTo"} xref: EFO:1001164 {source="MONDO:equivalentTo"} xref: GARD:0007606 {source="MONDO:equivalentTo"} -xref: ICD10CM:M86.3 {source="ORDO:793/ntbt", source="Orphanet:793"} +xref: ICD10CM:M86.3 {source="Orphanet:793/ntbt", source="Orphanet:793"} xref: ICD9:706.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10051316 {source="EFO:1001164", source="ORDO:793/e", source="Orphanet:793"} +xref: MedDRA:10051316 {source="Orphanet:793/e", source="EFO:1001164", source="Orphanet:793"} xref: MESH:D020083 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"} xref: NCIT:C119049 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"} xref: NCIT:C84530 {source="DOID:13677"} @@ -370232,8 +370070,8 @@ def: "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn err subset: ordo_clinical_subtype {source="Orphanet:79312"} synonym: "partial deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:79312] synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut-" EXACT [Orphanet:79312] -xref: ICD10CM:E71.1 {source="ORDO:79312/attributed", source="ORDO:79312/ntbt", source="Orphanet:79312"} -xref: OMIM:251000 {source="MONDO:subClassOf", source="ORDO:79312/ntbt", source="Orphanet:79312"} +xref: ICD10CM:E71.1 {source="Orphanet:79312/attributed", source="Orphanet:79312/ntbt", source="Orphanet:79312"} +xref: OMIM:251000 {source="MONDO:subClassOf", source="Orphanet:79312/ntbt", source="Orphanet:79312"} xref: Orphanet:79312 {source="MONDO:equivalentTo"} xref: SCTID:237946002 {source="MONDO:equivalentTo"} xref: UMLS:CN205894 {source="MONDO:equivalentTo"} @@ -370272,12 +370110,12 @@ synonym: "ichthyosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic ichthyosis" RELATED [DOID:1697] xref: DOID:1697 {source="MONDO:equivalentTo"} xref: HP:0008064 {source="MONDO:otherHierarchy"} -xref: MedDRA:10021198 {source="ORDO:79354/e", source="Orphanet:79354"} -xref: MESH:D007057 {source="MONDO:equivalentTo", source="DOID:1697", source="ORDO:79354/e", source="Orphanet:79354"} +xref: MedDRA:10021198 {source="Orphanet:79354/e", source="Orphanet:79354"} +xref: MESH:D007057 {source="Orphanet:79354/e", source="MONDO:equivalentTo", source="DOID:1697", source="Orphanet:79354"} xref: NCIT:C84776 {source="MONDO:equivalentTo"} xref: Orphanet:79354 {source="MONDO:equivalentTo", source="DOID:1697"} -xref: UMLS:C0020757 {source="NCIT:C84776", source="MONDO:equivalentTo", source="ORDO:79354/e", source="Orphanet:79354"} -xref: UMLS:C0020758 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79354/e", source="Orphanet:79354"} +xref: UMLS:C0020757 {source="NCIT:C84776", source="Orphanet:79354/e", source="MONDO:equivalentTo", source="Orphanet:79354"} +xref: UMLS:C0020758 {source="Orphanet:79354/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79354"} is_a: MONDO:0019268 {source="Orphanet:79354"} ! epidermal disease property_value: IAO:0000589 "ichthyosis (disease)" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2114 xsd:string @@ -370289,10 +370127,10 @@ name: erythrokeratoderma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79355"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10015280 {source="ORDO:79355/e", source="Orphanet:79355"} +xref: MedDRA:10015280 {source="Orphanet:79355/e", source="Orphanet:79355"} xref: Orphanet:79355 {source="MONDO:equivalentTo"} xref: SCTID:254215005 {source="MONDO:equivalentTo"} -xref: UMLS:C0432330 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79355/e", source="Orphanet:79355"} +xref: UMLS:C0432330 {source="Orphanet:79355/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79355"} is_a: MONDO:0019268 {source="Orphanet:79355"} ! epidermal disease [Term] @@ -370300,7 +370138,7 @@ id: MONDO:0019271 name: acrokeratoderma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79356"} -xref: ICD10CM:Q82.8 {source="ORDO:79356/ntbt", source="Orphanet:79356"} +xref: ICD10CM:Q82.8 {source="Orphanet:79356/ntbt", source="Orphanet:79356"} xref: Orphanet:79356 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 {source="Orphanet:79356"} ! epidermal disease @@ -370314,11 +370152,11 @@ synonym: "hereditary keratosis palmoplantaris" EXACT [Orphanet:79357] synonym: "hereditary palmoplantar hyperkeratosis" EXACT [Orphanet:79357] synonym: "hereditary palmoplantar keratosis" EXACT [MONDO:patterns/hereditary] synonym: "hereditary PPK" EXACT [Orphanet:79357] -xref: ICD10CM:Q82.8 {source="ORDO:79357/inclusion", source="ORDO:79357/ntbt", source="Orphanet:79357"} +xref: ICD10CM:Q82.8 {source="Orphanet:79357/ntbt", source="Orphanet:79357/inclusion", source="Orphanet:79357"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79357 {source="MONDO:equivalentTo"} xref: SCTID:239066003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406757 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79357/e", source="Orphanet:79357"} +xref: UMLS:C0406757 {source="Orphanet:79357/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79357"} is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:79357"} ! disease or disorder is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:79357/inferred", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0006590 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! palmoplantar keratosis @@ -370367,15 +370205,15 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79361"} synonym: "epidermolysis bullosa hereditaria" EXACT [Orphanet:79361] synonym: "hereditary epidermolysis bullosa" EXACT [MONDO:patterns/hereditary, Orphanet:79361] -xref: ICD10CM:Q81.0 {source="MONDO:superClassOf", source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"} -xref: ICD10CM:Q81.1 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"} -xref: ICD10CM:Q81.2 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"} -xref: ICD10CM:Q81.8 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"} -xref: ICD10CM:Q81.9 {source="ORDO:79361/attributed", source="ORDO:79361/ntbt", source="Orphanet:79361"} +xref: ICD10CM:Q81.0 {source="MONDO:superClassOf", source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} +xref: ICD10CM:Q81.1 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} +xref: ICD10CM:Q81.2 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} +xref: ICD10CM:Q81.8 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} +xref: ICD10CM:Q81.9 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79361 {source="MONDO:equivalentTo"} xref: SCTID:402781004 {source="MONDO:equivalentTo"} -xref: UMLS:C1274224 {source="ORDO:79361/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79361"} +xref: UMLS:C1274224 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79361", source="Orphanet:79361/e"} is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:79361"} ! disease or disorder is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:79361/inferred", source="linkedlifedata"} ! Mendelian disease is_a: MONDO:0006541 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! epidermolysis bullosa @@ -370423,8 +370261,8 @@ xref: HP:0000998 {source="MONDO:otherHierarchy"} xref: ICD10CM:L68 {source="DOID:420"} xref: ICD10CM:L68.3 {source="DOID:420"} xref: ICD10CM:L68.9 {source="DOID:420"} -xref: MedDRA:10020864 {source="ORDO:79365/e", source="Orphanet:79365"} -xref: MESH:D006983 {source="MONDO:equivalentTo", source="ORDO:79365/e", source="DOID:420", source="Orphanet:79365"} +xref: MedDRA:10020864 {source="Orphanet:79365/e", source="Orphanet:79365"} +xref: MESH:D006983 {source="Orphanet:79365/e", source="MONDO:equivalentTo", source="DOID:420", source="Orphanet:79365"} xref: NCIT:C79597 {source="MONDO:otherHierarchy", source="DOID:420"} xref: Orphanet:79365 {source="MONDO:equivalentTo", source="DOID:420"} xref: SCTID:156409007 {source="DOID:420"} @@ -370433,7 +370271,7 @@ xref: SCTID:201165000 {source="DOID:420"} xref: SCTID:271607001 {source="DOID:420"} xref: SCTID:29966009 {source="MONDO:equivalentTo", source="DOID:420"} xref: SCTID:40090008 {source="DOID:420"} -xref: UMLS:C0020555 {source="MONDO:equivalentTo", source="ORDO:79365/e", source="DOID:420", source="Orphanet:79365"} +xref: UMLS:C0020555 {source="Orphanet:79365/e", source="MONDO:equivalentTo", source="DOID:420", source="Orphanet:79365"} is_a: MONDO:0002917 {source="DOID:420", source="MESH:D006983", source="MONDO:Redundant", source="indirect"} ! disorder of pilosebaceous unit is_a: MONDO:0021027 {source="Orphanet:79365"} ! genetic hair anomaly property_value: IAO:0000589 "hypertrichosis (disease)" xsd:string @@ -370469,10 +370307,10 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79368"} synonym: "epidermal appendage anomaly of nail" EXACT [MONDO:design_pattern] synonym: "nail epidermal appendage anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location] -xref: MedDRA:10028684 {source="ORDO:79368/e", source="Orphanet:79368"} +xref: MedDRA:10028684 {source="Orphanet:79368/e", source="Orphanet:79368"} xref: Orphanet:79368 {source="MONDO:equivalentTo"} xref: UMLS:C0265997 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79368"} -xref: UMLS:C0853087 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79368/e", source="Orphanet:79368"} +xref: UMLS:C0853087 {source="Orphanet:79368/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79368"} is_a: MONDO:0019277 {source="MONDO:Redundant", source="Orphanet:79368"} ! epidermal appendage anomaly intersection_of: MONDO:0019277 ! epidermal appendage anomaly intersection_of: disease_has_location UBERON:0001705 ! nail @@ -370535,13 +370373,13 @@ synonym: "ectodermal dysplasia (select examples)" EXACT [OMIMPS:305100] xref: DOID:2121 {source="MONDO:equivalentTo"} xref: GARD:0006317 {source="MONDO:equivalentTo"} xref: ICD9:757.31 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10010452 {source="ORDO:79373/e", source="Orphanet:79373"} -xref: MESH:D004476 {source="MONDO:equivalentTo", source="ORDO:79373/e", source="Orphanet:79373"} +xref: MedDRA:10010452 {source="Orphanet:79373", source="Orphanet:79373/e"} +xref: MESH:D004476 {source="MONDO:equivalentTo", source="Orphanet:79373", source="Orphanet:79373/e"} xref: NCIT:C84683 {source="MONDO:equivalentTo"} xref: OMIMPS:305100 {source="DOID:2121", source="MONDO:equivalentTo"} xref: Orphanet:79373 {source="MONDO:equivalentTo"} xref: SCTID:8654005 {source="MONDO:equivalentTo"} -xref: UMLS:C0013575 {source="GARD:0006317", source="MONDO:equivalentTo", source="ORDO:79373/e", source="Orphanet:79373", source="NCIT:C84683"} +xref: UMLS:C0013575 {source="GARD:0006317", source="MONDO:equivalentTo", source="Orphanet:79373", source="NCIT:C84683", source="Orphanet:79373/e"} is_a: MONDO:0002254 {source="DOID:2121", source="NCIT:C84683"} ! syndromic disease is_a: MONDO:0021026 {source="Orphanet:79373"} ! genetic epidermal appendage anomaly relationship: disease_has_basis_in_development_of UBERON:0000924 ! ectoderm @@ -370591,7 +370429,7 @@ synonym: "hypomelanosis" RELATED [MESH:D017496] synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous] synonym: "hypopigmentation of the skin (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001010 {source="MONDO:otherHierarchy"} -xref: MedDRA:10040868 {source="ORDO:79376/e", source="Orphanet:79376"} +xref: MedDRA:10040868 {source="Orphanet:79376/e", source="Orphanet:79376"} xref: MESH:D017496 {source="MONDO:equivalentTo"} xref: Orphanet:79376 {source="MONDO:equivalentTo"} xref: UMLS:C0162835 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79376"} @@ -370640,14 +370478,14 @@ synonym: "vascular skin disease" EXACT [MONDO:0004814] synonym: "vasculature skin disease" EXACT [MONDO:patterns/location] xref: DOID:9540 {source="MONDO:equivalentTo"} xref: ICD9:709.1 {source="DOID:9540"} -xref: MedDRA:10062171 {source="ORDO:79379/e", source="Orphanet:79379"} -xref: MESH:D017445 {source="MONDO:equivalentTo", source="DOID:9540", source="ORDO:79379/e", source="Orphanet:79379"} +xref: MedDRA:10062171 {source="Orphanet:79379/e", source="Orphanet:79379"} +xref: MESH:D017445 {source="Orphanet:79379/e", source="MONDO:equivalentTo", source="DOID:9540", source="Orphanet:79379"} xref: NCIT:C35254 {source="MONDO:equivalentTo", source="DOID:9540"} xref: Orphanet:79379 {source="MONDO:equivalentTo"} xref: SCTID:11263005 {source="MONDO:equivalentTo", source="DOID:9540"} xref: SCTID:201306008 {source="DOID:9540"} xref: SCTID:267820009 {source="DOID:9540"} -xref: UMLS:C0162819 {source="MONDO:equivalentTo", source="DOID:9540", source="ORDO:79379/e", source="Orphanet:79379"} +xref: UMLS:C0162819 {source="Orphanet:79379/e", source="MONDO:equivalentTo", source="DOID:9540", source="Orphanet:79379"} is_a: MONDO:0005093 {source="DOID:9540", source="MESH:D017445", source="MONDO:Redundant", source="NCIT:C35254", source="linkedlifedata"} ! skin disorder is_a: MONDO:0005385 {source="MONDO:Redundant", source="NCIT:C35254", source="linkedlifedata"} ! vascular disorder intersection_of: MONDO:0000001 ! disease or disorder @@ -370688,7 +370526,7 @@ xref: ICD10CM:L00-L99 {source="MONDO:subClassOf", source="https://github.com/mon xref: ICD10CM:L55-L59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:L80-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:superClassOf", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:79382 {source="MONDO:equivalentTo"} -xref: UMLS:C1290008 {source="ORDO:79382/e", source="MONDO:equivalentTo", source="Orphanet:79382"} +xref: UMLS:C1290008 {source="MONDO:equivalentTo", source="Orphanet:79382", source="Orphanet:79382/e"} intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0011818 ! superficial fascia relationship: excluded_subClassOf MONDO:0019043 ! obsolete rare genetic skin disease @@ -370706,8 +370544,8 @@ synonym: "lymphoedema NOS" RELATED EXCLUDE [DOID:4977] xref: DOID:4977 {source="MONDO:equivalentTo"} xref: GARD:0012563 {source="MONDO:equivalentTo"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10025282 {source="ORDO:79383/e", source="Orphanet:79383"} -xref: MESH:D008209 {source="ORDO:79383/e", source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383"} +xref: MedDRA:10025282 {source="Orphanet:79383", source="Orphanet:79383/e"} +xref: MESH:D008209 {source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="Orphanet:79383/e"} xref: NCIT:C3207 {source="MONDO:equivalentTo", source="DOID:4977", source="exact-label-match"} xref: Orphanet:79383 {source="MONDO:equivalentTo"} xref: SCTID:155485008 {source="DOID:4977"} @@ -370715,7 +370553,7 @@ xref: SCTID:195486001 {source="DOID:4977"} xref: SCTID:234097001 {source="MONDO:equivalentTo", source="DOID:4977"} xref: SCTID:266334008 {source="DOID:4977"} xref: SCTID:30213001 {source="DOID:4977"} -xref: UMLS:C0024236 {source="ORDO:79383/e", source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="NCIT:C3207"} +xref: UMLS:C0024236 {source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="NCIT:C3207", source="Orphanet:79383/e"} is_a: MONDO:0005833 {source="DOID:4977", source="MESH:D008209"} ! lymphatic system disorder relationship: excluded_subClassOf MONDO:0019043 {source="Orphanet:79383"} ! obsolete rare genetic skin disease @@ -370786,10 +370624,10 @@ def: "Changes in the organism associated with senescence, occurring at an accele subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79389"} synonym: "premature aging" RELATED [Orphanet:79389] -xref: MedDRA:10063493 {source="ORDO:79389/e", source="Orphanet:79389"} -xref: MESH:D019588 {source="MONDO:equivalentTo", source="ORDO:79389/e", source="Orphanet:79389"} +xref: MedDRA:10063493 {source="Orphanet:79389/e", source="Orphanet:79389"} +xref: MESH:D019588 {source="Orphanet:79389/e", source="MONDO:equivalentTo", source="Orphanet:79389"} xref: Orphanet:79389 {source="MONDO:equivalentTo"} -xref: UMLS:C0231341 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79389/e", source="Orphanet:79389"} +xref: UMLS:C0231341 {source="Orphanet:79389/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79389"} is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-2825-0621"} ! disease or disorder relationship: disease_disrupts GO:0007568 ! aging relationship: excluded_subClassOf MONDO:0005093 {source="Orphanet:79389"} ! skin disorder @@ -370838,16 +370676,16 @@ synonym: "non-bullous congenital ichthyosiform erythroderma" EXACT [Orphanet:793 synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [DOID:1699] xref: DOID:1699 {source="MONDO:equivalentObsolete"} xref: HP:0007431 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q80.2 {source="ORDO:79394/attributed", source="ORDO:79394/ntbt", source="DOID:1699", source="Orphanet:79394"} +xref: ICD10CM:Q80.2 {source="DOID:1699", source="Orphanet:79394", source="Orphanet:79394/attributed", source="Orphanet:79394/ntbt"} xref: MESH:D016113 {source="DOID:1699"} xref: MESH:D017490 {source="MONDO:relatedTo", source="DOID:1699"} xref: NCIT:C84805 {source="MONDO:relatedTo", source="DOID:1699"} -xref: OMIM:242100 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="ORDO:79394/btnt", source="DOID:1699", source="Orphanet:79394"} -xref: OMIM:606545 {source="MONDO:superClassOf", source="ORDO:79394/btnt", source="Orphanet:79394"} -xref: OMIM:612281 {source="MONDO:superClassOf", source="ORDO:79394/btnt", source="Orphanet:79394"} -xref: OMIM:615022 {source="MONDO:superClassOf", source="ORDO:79394/btnt", source="Orphanet:79394"} -xref: OMIM:615023 {source="MONDO:superClassOf", source="ORDO:79394/btnt", source="Orphanet:79394"} -xref: OMIM:615024 {source="MONDO:superClassOf", source="ORDO:79394/btnt", source="Orphanet:79394"} +xref: OMIM:242100 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="DOID:1699", source="Orphanet:79394", source="Orphanet:79394/btnt"} +xref: OMIM:606545 {source="MONDO:superClassOf", source="Orphanet:79394", source="Orphanet:79394/btnt"} +xref: OMIM:612281 {source="MONDO:superClassOf", source="Orphanet:79394", source="Orphanet:79394/btnt"} +xref: OMIM:615022 {source="MONDO:superClassOf", source="Orphanet:79394", source="Orphanet:79394/btnt"} +xref: OMIM:615023 {source="MONDO:superClassOf", source="Orphanet:79394", source="Orphanet:79394/btnt"} +xref: OMIM:615024 {source="MONDO:superClassOf", source="Orphanet:79394", source="Orphanet:79394/btnt"} xref: Orphanet:79394 {source="MONDO:equivalentTo"} xref: SCTID:12215009 {source="DOID:1699"} xref: SCTID:205549003 {source="DOID:1699"} @@ -370858,7 +370696,7 @@ xref: SCTID:267372009 {source="DOID:1699"} xref: SCTID:268245001 {source="DOID:1699"} xref: SCTID:268282005 {source="DOID:1699"} xref: SCTID:35970001 {source="DOID:1699"} -xref: UMLS:C0079154 {source="ORDO:79394/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:1699", source="Orphanet:79394"} +xref: UMLS:C0079154 {source="MONDO:notFoundInDiseaseSubset", source="DOID:1699", source="Orphanet:79394", source="Orphanet:79394/e"} xref: UMLS:C0079583 {source="MONDO:notFoundInDiseaseSubset", source="DOID:1699"} is_a: MONDO:0006025 {source="DOID:1699", source="indirect"} ! autosomal recessive disease is_a: MONDO:0017265 {source="Orphanet:79394"} ! autosomal recessive congenital ichthyosis @@ -370884,8 +370722,8 @@ synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402] xref: DOID:0060738 {source="MONDO:equivalentTo"} xref: GARD:0012922 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q81.8 {source="Orphanet:79402", source="DOID:0060738", source="ORDO:79402/attributed", source="ORDO:79402/ntbt"} -xref: OMIM:226650 {source="MONDO:subClassOf", source="Orphanet:79402", source="DOID:0060738", source="ORDO:79402/ntbt"} +xref: ICD10CM:Q81.8 {source="Orphanet:79402", source="Orphanet:79402/attributed", source="Orphanet:79402/ntbt", source="DOID:0060738"} +xref: OMIM:226650 {source="MONDO:subClassOf", source="Orphanet:79402", source="Orphanet:79402/ntbt", source="DOID:0060738"} xref: Orphanet:79402 {source="MONDO:equivalentTo", source="DOID:0060738"} xref: Orphanet:89840 {source="MONDO:subClassOf", source="DOID:0060738"} xref: SCTID:724225008 {source="MONDO:equivalentTo"} @@ -370901,8 +370739,8 @@ synonym: "EBJ-I" EXACT [Orphanet:79405] synonym: "inverse JEB" EXACT [Orphanet:79405] synonym: "JEB-I" EXACT [Orphanet:79405] xref: GARD:0002143 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.8 {source="Orphanet:79405", source="ORDO:79405/attributed", source="ORDO:79405/ntbt"} -xref: OMIM:226650 {source="MONDO:subClassOf", source="Orphanet:79405", source="ORDO:79405/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q81.8 {source="Orphanet:79405", source="Orphanet:79405/attributed", source="Orphanet:79405/ntbt"} +xref: OMIM:226650 {source="MONDO:subClassOf", source="Orphanet:79405", source="Orphanet:79405/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:79405 {source="MONDO:equivalentTo"} xref: UMLS:C2673609 {source="Orphanet:79405", source="MONDO:equivalentTo"} xref: UMLS:C2673610 {source="MONDO:equivalentTo"} @@ -370918,7 +370756,7 @@ subset: ordo_disease {source="Orphanet:79406"} synonym: "EB progressive" EXACT [Orphanet:79406] synonym: "JEB-lo" EXACT [Orphanet:79406] xref: GARD:0012921 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.8 {source="Orphanet:79406", source="ORDO:79406/attributed", source="ORDO:79406/ntbt"} +xref: ICD10CM:Q81.8 {source="Orphanet:79406/attributed", source="Orphanet:79406/ntbt", source="Orphanet:79406"} xref: Orphanet:79406 {source="MONDO:equivalentTo"} xref: SCTID:719432000 {source="MONDO:equivalentTo"} xref: UMLS:C4304724 {source="MONDO:equivalentTo"} @@ -370935,8 +370773,8 @@ synonym: "dystrophic epidermolysis bullosa inversa" EXACT [Orphanet:79409] synonym: "inverse RDEB" EXACT [Orphanet:79409] synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79409] synonym: "RDEB-I" EXACT [Orphanet:79409] -xref: ICD10CM:Q81.2 {source="ORDO:79409/attributed", source="ORDO:79409/ntbt", source="Orphanet:79409"} -xref: OMIM:226600 {source="MONDO:subClassOf", source="ORDO:79409/ntbt", source="Orphanet:79409"} +xref: ICD10CM:Q81.2 {source="Orphanet:79409", source="Orphanet:79409/attributed", source="Orphanet:79409/ntbt"} +xref: OMIM:226600 {source="MONDO:subClassOf", source="Orphanet:79409", source="Orphanet:79409/ntbt"} xref: Orphanet:79409 {source="MONDO:equivalentTo"} xref: UMLS:CN205951 {source="MONDO:equivalentTo"} is_a: MONDO:0009179 ! recessive dystrophic epidermolysis bullosa @@ -370948,11 +370786,11 @@ name: woolly hair nevus def: "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." [Orphanet:79414] subset: ordo_disease {source="Orphanet:79414"} synonym: "wooly hair nevus" EXACT [Orphanet:79414] -xref: ICD10CM:D23.4 {source="Orphanet:79414", source="ORDO:79414/attributed", source="ORDO:79414/ntbt"} -xref: OMIM:162900 {source="MONDO:subClassOf", source="Orphanet:79414", source="ORDO:79414/ntbt"} +xref: ICD10CM:D23.4 {source="Orphanet:79414", source="Orphanet:79414/attributed", source="Orphanet:79414/ntbt"} +xref: OMIM:162900 {source="MONDO:subClassOf", source="Orphanet:79414", source="Orphanet:79414/ntbt"} xref: Orphanet:79414 {source="MONDO:equivalentTo"} xref: SCTID:239124001 {source="MONDO:equivalentTo"} -xref: UMLS:C0343114 {source="Orphanet:79414", source="MONDO:equivalentTo", source="ORDO:79414/e"} +xref: UMLS:C0343114 {source="Orphanet:79414", source="MONDO:equivalentTo", source="Orphanet:79414/e"} is_a: MONDO:0008093 ! nevus, epidermal is_a: MONDO:0019281 {source="Orphanet:79414"} ! isolated genetic hair shaft abnormality property_value: confidence "6.333333333333333" xsd:double @@ -370967,21 +370805,21 @@ synonym: "HPS" EXACT ABBREVIATION [Orphanet:79430] synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [DOID:3753] xref: DOID:3753 {source="MONDO:equivalentTo"} xref: GARD:0006643 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E70.3 {source="ORDO:79430/ntbt", source="MONDO:relatedTo", source="Orphanet:79430", source="ORDO:79430/inclusion"} +xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79430/inclusion", source="Orphanet:79430", source="Orphanet:79430/ntbt"} xref: ICD10CM:E70.331 {source="DOID:3753", source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071775 {source="ORDO:79430/e", source="Orphanet:79430"} +xref: MedDRA:10071775 {source="Orphanet:79430/e", source="Orphanet:79430"} xref: MESH:D022861 {source="DOID:3753", source="MONDO:equivalentTo"} xref: NCIT:C37261 {source="DOID:3753", source="MONDO:equivalentTo"} -xref: OMIM:203300 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:608233 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614072 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614073 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614074 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614075 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614076 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614077 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} -xref: OMIM:614171 {source="ORDO:79430/btnt", source="MONDO:superClassOf", source="Orphanet:79430"} +xref: OMIM:203300 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:608233 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614072 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614073 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614074 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614075 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614076 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614077 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} +xref: OMIM:614171 {source="MONDO:superClassOf", source="Orphanet:79430", source="Orphanet:79430/btnt"} xref: OMIMPS:203300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:231531 {source="DOID:3753", source="MONDO:superClassOf"} xref: Orphanet:231537 {source="DOID:3753", source="MONDO:superClassOf"} @@ -371007,14 +370845,14 @@ synonym: "hereditary lymphedema" EXACT [MONDO:patterns/hereditary] synonym: "lymphedema, hereditary" EXACT [OMIMPS:153100] xref: DOID:0050580 {source="MONDO:equivalentTo"} xref: GARD:0007220 {source="MONDO:superClassof", source="Orphanet-shared"} -xref: ICD10CM:Q82.0 {source="ORDO:79452/attributed", source="ORDO:79452/ntbt", source="MONDO:equivalentTo", source="Orphanet:79452"} +xref: ICD10CM:Q82.0 {source="MONDO:equivalentTo", source="Orphanet:79452", source="Orphanet:79452/attributed", source="Orphanet:79452/ntbt"} xref: ICD9:757.0 {source="DOID:0050580"} -xref: OMIM:153100 {source="ORDO:79452/btnt", source="MONDO:superClassOf", source="Orphanet:79452", source="DOID:0050580"} +xref: OMIM:153100 {source="MONDO:superClassOf", source="Orphanet:79452", source="Orphanet:79452/btnt", source="DOID:0050580"} xref: OMIM:153200 {source="MONDO:superClassOf", source="DOID:0050580"} -xref: OMIM:247440 {source="ORDO:79452/btnt", source="MONDO:superClassOf", source="Orphanet:79452", source="DOID:0050580"} -xref: OMIM:611944 {source="ORDO:79452/btnt", source="MONDO:superClassOf", source="Orphanet:79452", source="DOID:0050580"} -xref: OMIM:613480 {source="ORDO:79452/btnt", source="MONDO:superClassOf", source="Orphanet:79452", source="DOID:0050580"} -xref: OMIM:615907 {source="ORDO:79452/btnt", source="MONDO:superClassOf", source="Orphanet:79452", source="DOID:0050580"} +xref: OMIM:247440 {source="MONDO:superClassOf", source="Orphanet:79452", source="Orphanet:79452/btnt", source="DOID:0050580"} +xref: OMIM:611944 {source="MONDO:superClassOf", source="Orphanet:79452", source="Orphanet:79452/btnt", source="DOID:0050580"} +xref: OMIM:613480 {source="MONDO:superClassOf", source="Orphanet:79452", source="Orphanet:79452/btnt", source="DOID:0050580"} +xref: OMIM:615907 {source="MONDO:superClassOf", source="Orphanet:79452", source="Orphanet:79452/btnt", source="DOID:0050580"} xref: OMIMPS:153100 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:superClassOf", source="DOID:0050580"} xref: SCTID:205542007 {source="DOID:0050580"} @@ -371024,7 +370862,7 @@ xref: SCTID:254199006 {source="MONDO:equivalentTo"} xref: SCTID:399889006 {source="MONDO:superClassOf"} xref: SCTID:75127007 {source="DOID:0050580"} xref: UMLS:C1313885 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050580"} -xref: UMLS:C1704423 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79452/e", source="Orphanet:79452"} +xref: UMLS:C1704423 {source="Orphanet:79452/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79452"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:79452", source="Orphanet:79452/inferred"} ! genetic vascular anomaly is_a: MONDO:0019175 {source="Orphanet:79452", source="Orphanet:79452/inferred"} ! primary lymphedema intersection_of: MONDO:0019297 ! lymphedema @@ -371040,10 +370878,10 @@ synonym: "cutaneous local mastocytoma" EXACT [Orphanet:79455] synonym: "multiple mastocytoma" EXACT [Orphanet:79455] synonym: "solitary mastocytoma" EXACT [Orphanet:79455] xref: GARD:0012687 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:79455/ntbt", source="Orphanet:79455"} -xref: MESH:D054705 {source="MONDO:relatedTo", source="ORDO:79455/e", source="Orphanet:79455"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:79455/ntbt", source="Orphanet:79455"} +xref: MESH:D054705 {source="MONDO:relatedTo", source="Orphanet:79455/e", source="Orphanet:79455"} xref: Orphanet:79455 {source="MONDO:equivalentTo"} -xref: UMLS:C0343115 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79455/e", source="Orphanet:79455"} +xref: UMLS:C0343115 {source="Orphanet:79455/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79455"} is_a: MONDO:0019023 {source="Orphanet:79455"} ! cutaneous mastocytosis [Term] @@ -371056,14 +370894,14 @@ synonym: "diffuse cutaneous maculopapulous mastocytosis" EXACT [Orphanet:79456] synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, MONDO:0002725, NCIT:C3218] xref: DOID:3665 {source="MONDO:equivalentTo"} xref: GARD:0012686 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:79456/ntbt", source="Orphanet:79456"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:79456/ntbt", source="Orphanet:79456"} xref: ICDO:9740/1 {source="NCIT:C3218"} -xref: MedDRA:10012812 {source="ORDO:79456/e", source="Orphanet:79456"} +xref: MedDRA:10012812 {source="Orphanet:79456/e", source="Orphanet:79456"} xref: MESH:D034701 {source="MONDO:subClassOf", source="DOID:3665"} xref: NCIT:C3218 {source="DOID:3665", source="MONDO:equivalentTo"} xref: Orphanet:79456 {source="MONDO:equivalentTo"} xref: SCTID:703826004 {source="DOID:3665"} -xref: UMLS:C0024901 {source="DOID:3665", source="MONDO:equivalentTo", source="ORDO:79456/e", source="Orphanet:79456", source="NCIT:C3218"} +xref: UMLS:C0024901 {source="DOID:3665", source="Orphanet:79456/e", source="MONDO:equivalentTo", source="Orphanet:79456", source="NCIT:C3218"} is_a: MONDO:0019023 {source="DOID:3665", source="NCIT:C3218/inferred", source="Orphanet:79456"} ! cutaneous mastocytosis [Term] @@ -371079,18 +370917,18 @@ synonym: "urticaria pigmentosa" EXACT [MONDO:0001489, Orphanet:79457] synonym: "urticaria pigmentosa/maculopapular cutaneous mastocytosis" EXACT [NCIT:C3433] xref: DOID:12309 {source="MONDO:equivalentTo"} xref: GARD:0013079 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:79457", source="DOID:12309", source="ORDO:79457/ntbt"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:79457", source="Orphanet:79457/ntbt", source="DOID:12309"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9740/1 {source="NCIT:C3433"} -xref: MedDRA:10046752 {source="Orphanet:79457", source="ORDO:79457/e"} -xref: MESH:D014582 {source="Orphanet:79457", source="DOID:12309", source="ORDO:79457/e"} +xref: MedDRA:10046752 {source="Orphanet:79457", source="Orphanet:79457/e"} +xref: MESH:D014582 {source="Orphanet:79457", source="DOID:12309", source="Orphanet:79457/e"} xref: NCIT:C3433 {source="MONDO:equivalentTo", source="DOID:12309"} -xref: OMIM:154800 {source="MONDO:subClassOf", source="Orphanet:79457", source="ORDO:79457/ntbt"} +xref: OMIM:154800 {source="MONDO:subClassOf", source="Orphanet:79457", source="Orphanet:79457/ntbt"} xref: Orphanet:79457 {source="MONDO:equivalentTo"} xref: SCTID:205566001 {source="DOID:12309"} xref: SCTID:703828003 {source="DOID:12309"} xref: SCTID:78745000 {source="MONDO:equivalentTo", source="DOID:12309"} -xref: UMLS:C0042111 {source="Orphanet:79457", source="MONDO:equivalentTo", source="DOID:12309", source="NCIT:C3433", source="ORDO:79457/e"} +xref: UMLS:C0042111 {source="Orphanet:79457", source="MONDO:equivalentTo", source="DOID:12309", source="Orphanet:79457/e", source="NCIT:C3433"} is_a: MONDO:0019023 {source="DOID:12309", source="NCIT:C3433/inferred", source="Orphanet:79457", source="linkedlifedata"} ! cutaneous mastocytosis property_value: confidence "0.6250000000000002" xsd:double @@ -371098,7 +370936,7 @@ property_value: confidence "0.6250000000000002" xsd:double id: MONDO:0019317 name: follicular atrophoderma-basal cell carcinoma subset: ordo_clinical_subtype {source="Orphanet:79459"} -xref: ICD10CM:L98.8 {source="Orphanet:79459", source="ORDO:79459/attributed", source="ORDO:79459/ntbt"} +xref: ICD10CM:L98.8 {source="Orphanet:79459/attributed", source="Orphanet:79459/ntbt", source="Orphanet:79459"} xref: Orphanet:79459 {source="MONDO:equivalentTo"} xref: UMLS:C0346104 {source="Orphanet:79459", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN205972 {source="MONDO:equivalentTo"} @@ -371113,10 +370951,10 @@ synonym: "ILVEN" EXACT ABBREVIATION [Orphanet:79466] synonym: "inflammatory linear verrucous epidermal naevus" RELATED [GARD:0005484] synonym: "linear verrucose epidermal nevus" RELATED [GARD:0005484] xref: GARD:0005484 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.5 {source="ORDO:79466/ntbt", source="Orphanet:79466"} +xref: ICD10CM:Q82.5 {source="Orphanet:79466/ntbt", source="Orphanet:79466"} xref: Orphanet:79466 {source="MONDO:equivalentTo"} xref: SCTID:399995006 {source="MONDO:equivalentTo"} -xref: UMLS:C0473574 {source="MONDO:equivalentTo", source="ORDO:79466/e", source="Orphanet:79466"} +xref: UMLS:C0473574 {source="Orphanet:79466/e", source="MONDO:equivalentTo", source="Orphanet:79466"} is_a: MONDO:0016831 {source="Orphanet:79466"} ! linear verrucous nevus syndrome [Term] @@ -371125,7 +370963,7 @@ name: verrucous nevus def: "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." [NCIT:C4674] subset: ordo_clinical_subtype {source="Orphanet:79467"} synonym: "verrucous Epidermal Nevus" EXACT [NCIT:C4674] -xref: ICD10CM:Q82.5 {source="ORDO:79467/ntbt", source="Orphanet:79467"} +xref: ICD10CM:Q82.5 {source="Orphanet:79467/ntbt", source="Orphanet:79467"} xref: NCIT:C4674 {source="MONDO:equivalentTo"} xref: Orphanet:79467 {source="MONDO:equivalentTo"} xref: SCTID:398723007 {source="MONDO:equivalentTo"} @@ -371139,7 +370977,7 @@ subset: gard_rare {source="GARD:0005485"} subset: ordo_clinical_subtype {source="Orphanet:79468"} synonym: "verrucous nevus acanthokeratolytic" RELATED [GARD:0005485] xref: GARD:0005485 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.5 {source="Orphanet:79468", source="ORDO:79468/ntbt"} +xref: ICD10CM:Q82.5 {source="Orphanet:79468", source="Orphanet:79468/ntbt"} xref: Orphanet:79468 {source="MONDO:equivalentTo"} xref: UMLS:CN205975 {source="MONDO:equivalentTo"} is_a: MONDO:0016831 {source="Orphanet:79468"} ! linear verrucous nevus syndrome @@ -371153,7 +370991,7 @@ subset: gard_rare {source="GARD:0011910"} subset: ordo_disease {source="Orphanet:79474"} synonym: "atypical progeroid syndrome" EXACT [Orphanet:79474] xref: GARD:0011910 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.8 {source="ORDO:79474/attributed", source="ORDO:79474/ntbt", source="Orphanet:79474"} +xref: ICD10CM:E34.8 {source="Orphanet:79474", source="Orphanet:79474/attributed", source="Orphanet:79474/ntbt"} xref: Orphanet:79474 {source="MONDO:equivalentTo"} xref: SCTID:715633008 {source="MONDO:equivalentTo"} xref: UMLS:C4275075 {source="MONDO:equivalentTo"} @@ -371169,12 +371007,12 @@ id: MONDO:0019322 name: pemphigus vegetans subset: ordo_clinical_subtype {source="Orphanet:79479"} xref: EFO:0008613 {source="MONDO:equivalentTo"} -xref: ICD10CM:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="ORDO:79479/e"} -xref: MedDRA:10057053 {source="Orphanet:79479", source="ORDO:79479/e"} +xref: ICD10CM:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"} +xref: MedDRA:10057053 {source="Orphanet:79479", source="Orphanet:79479/e"} xref: Orphanet:79479 {source="MONDO:equivalentTo"} xref: SCTID:81285006 {source="MONDO:equivalentTo"} -xref: UMLS:C0263316 {source="Orphanet:79479", source="MONDO:equivalentTo", source="ORDO:79479/e"} -xref: UMLS:C0406647 {source="Orphanet:79479", source="MONDO:notFoundInDiseaseSubset", source="ORDO:79479/e"} +xref: UMLS:C0263316 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"} +xref: UMLS:C0406647 {source="Orphanet:79479", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79479/e"} xref: UMLS:CN205981 {source="MONDO:equivalentTo"} is_a: MONDO:0008219 {source="EFO:0008613", source="Orphanet:79479"} ! pemphigus vulgaris @@ -371186,11 +371024,11 @@ subset: ordo_disease {source="Orphanet:79480"} synonym: "seborrheic pemphigus" EXACT [Orphanet:79480] synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480] xref: EFO:0008603 {source="MONDO:equivalentTo"} -xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="ORDO:79480/ntbt"} -xref: MedDRA:10058917 {source="ORDO:79480/e", source="Orphanet:79480"} +xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/ntbt"} +xref: MedDRA:10058917 {source="Orphanet:79480", source="Orphanet:79480/e"} xref: Orphanet:79480 {source="MONDO:equivalentTo"} xref: SCTID:36739006 {source="MONDO:equivalentTo"} -xref: UMLS:C0263312 {source="ORDO:79480/e", source="MONDO:equivalentTo", source="Orphanet:79480"} +xref: UMLS:C0263312 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/e"} is_a: MONDO:0018745 {source="Orphanet:79480"} ! superficial pemphigus [Term] @@ -371203,11 +371041,11 @@ synonym: "PF" RELATED ABBREVIATION [GARD:0007354] xref: EFO:0008601 {source="MONDO:equivalentTo"} xref: GARD:0007354 {source="MONDO:equivalentTo"} xref: HGNC:3050 {source="GARD:0007354"} -xref: ICD10CM:L10.2 {source="ORDO:79481/ntbt", source="Orphanet:79481"} -xref: MedDRA:10057069 {source="ORDO:79481/e", source="Orphanet:79481"} +xref: ICD10CM:L10.2 {source="Orphanet:79481", source="Orphanet:79481/ntbt"} +xref: MedDRA:10057069 {source="Orphanet:79481", source="Orphanet:79481/e"} xref: Orphanet:79481 {source="MONDO:equivalentTo"} xref: SCTID:35154004 {source="MONDO:equivalentTo"} -xref: UMLS:C0263313 {source="ORDO:79481/e", source="MONDO:equivalentTo", source="Orphanet:79481"} +xref: UMLS:C0263313 {source="MONDO:equivalentTo", source="Orphanet:79481", source="Orphanet:79481/e"} is_a: MONDO:0018745 {source="Orphanet:79481"} ! superficial pemphigus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus xsd:anyURI {source="GARD:0007354"} @@ -371216,7 +371054,7 @@ id: MONDO:0019325 name: phakomatosis cesioflammea subset: ordo_clinical_subtype {source="Orphanet:79483"} synonym: "phakomatosis pigmentovascularis type 2" EXACT [Orphanet:79483] -xref: ICD10CM:Q85.8 {source="ORDO:79483/attributed", source="ORDO:79483/ntbt", source="Orphanet:79483"} +xref: ICD10CM:Q85.8 {source="Orphanet:79483", source="Orphanet:79483/attributed", source="Orphanet:79483/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79483 {source="MONDO:equivalentTo"} xref: SCTID:703284009 {source="MONDO:equivalentTo"} @@ -371230,7 +371068,7 @@ subset: ordo_clinical_subtype {source="Orphanet:79484"} synonym: "phakomatosis caesiomarmorata" EXACT [] synonym: "phakomatosis cesiomarmorata" EXACT [] synonym: "phakomatosis pigmentovascularis type 5" EXACT [Orphanet:79484] -xref: ICD10CM:Q85.8 {source="ORDO:79484/attributed", source="ORDO:79484/ntbt", source="Orphanet:79484"} +xref: ICD10CM:Q85.8 {source="Orphanet:79484/attributed", source="Orphanet:79484/ntbt", source="Orphanet:79484"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79484 {source="MONDO:equivalentTo"} xref: SCTID:703286006 {source="MONDO:equivalentTo"} @@ -371242,7 +371080,7 @@ id: MONDO:0019327 name: phakomatosis spilorosea subset: ordo_clinical_subtype {source="Orphanet:79485"} synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485] -xref: ICD10CM:Q85.8 {source="ORDO:79485/attributed", source="ORDO:79485/ntbt", source="Orphanet:79485"} +xref: ICD10CM:Q85.8 {source="Orphanet:79485", source="Orphanet:79485/attributed", source="Orphanet:79485/ntbt"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:79485 {source="MONDO:equivalentTo"} xref: SCTID:703285005 {source="MONDO:equivalentTo"} @@ -371258,7 +371096,7 @@ synonym: "cavernous lymphangioma" EXACT [Orphanet:79489] synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489] synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489] xref: GARD:0006010 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D18.1 {source="ORDO:79489/ntbt", source="Orphanet:79489"} +xref: ICD10CM:D18.1 {source="Orphanet:79489/ntbt", source="Orphanet:79489"} xref: NCIT:C53316 {source="MONDO:equivalentTo"} xref: Orphanet:79489 {source="MONDO:equivalentTo"} xref: UMLS:C0205828 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79489"} @@ -371276,7 +371114,7 @@ synonym: "microcystic lymphangioma" EXACT [Orphanet:79490] synonym: "superficial lymphangioma" EXACT [Orphanet:79490] synonym: "superficial lymphatic malformation" EXACT [Orphanet:79490] xref: GARD:0013020 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D18.1 {source="Orphanet:79490", source="ORDO:79490/ntbt"} +xref: ICD10CM:D18.1 {source="Orphanet:79490/ntbt", source="Orphanet:79490"} xref: Orphanet:79490 {source="MONDO:equivalentTo"} is_a: MONDO:0018720 {source="Orphanet:79490"} ! common cystic lymphatic malformation @@ -371286,7 +371124,7 @@ name: pili gemini def: "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." [Orphanet:79492] subset: ordo_disease {source="Orphanet:79492"} synonym: "pili multigemini" EXACT [Orphanet:79492] -xref: ICD10CM:L67.8 {source="ORDO:79492/attributed", source="ORDO:79492/ntbt", source="Orphanet:79492"} +xref: ICD10CM:L67.8 {source="Orphanet:79492", source="Orphanet:79492/attributed", source="Orphanet:79492/ntbt"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537188 {source="MONDO:equivalentTo"} xref: Orphanet:79492 {source="MONDO:equivalentTo"} @@ -371314,9 +371152,9 @@ synonym: "PPKP1" EXACT ABBREVIATION [Orphanet:79501] synonym: "punctate palmoplantar keratoderma type I" RELATED [GARD:0003103] synonym: "type I punctate palmoplantar keratoderma" RELATED [GARD:0003103] xref: GARD:0003103 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q82.8 {source="Orphanet:79501", source="ORDO:79501/attributed", source="ORDO:79501/ntbt"} -xref: OMIM:148600 {source="Orphanet:79501", source="MONDO:superClassOf", source="ORDO:79501/btnt"} -xref: OMIM:614936 {source="Orphanet:79501", source="MONDO:superClassOf", source="ORDO:79501/btnt"} +xref: ICD10CM:Q82.8 {source="Orphanet:79501", source="Orphanet:79501/attributed", source="Orphanet:79501/ntbt"} +xref: OMIM:148600 {source="Orphanet:79501", source="Orphanet:79501/btnt", source="MONDO:superClassOf"} +xref: OMIM:614936 {source="Orphanet:79501", source="Orphanet:79501/btnt", source="MONDO:superClassOf"} xref: Orphanet:79501 {source="MONDO:equivalentTo"} xref: SCTID:717184007 {source="MONDO:equivalentTo"} xref: UMLS:CN205995 {source="MONDO:equivalentTo"} @@ -371327,8 +371165,8 @@ id: MONDO:0019333 name: autosomal recessive hyperinsulinism due to SUR1 deficiency subset: ordo_disease {source="Orphanet:79643"} synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:79643] -xref: ICD10CM:E16.1 {source="ORDO:79643/attributed", source="ORDO:79643/ntbt", source="Orphanet:79643"} -xref: OMIM:256450 {source="MONDO:subClassOf", source="ORDO:79643/ntbt", source="Orphanet:79643"} +xref: ICD10CM:E16.1 {source="Orphanet:79643/attributed", source="Orphanet:79643/ntbt", source="Orphanet:79643"} +xref: OMIM:256450 {source="MONDO:subClassOf", source="Orphanet:79643/ntbt", source="Orphanet:79643"} xref: Orphanet:79643 {source="MONDO:equivalentTo"} xref: UMLS:CN206002 {source="MONDO:equivalentTo"} is_a: MONDO:0009734 ! hyperinsulinemic hypoglycemia, familial, 1 @@ -371340,8 +371178,8 @@ id: MONDO:0019334 name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency subset: ordo_disease {source="Orphanet:79644"} synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:79644] -xref: ICD10CM:E16.1 {source="Orphanet:79644", source="ORDO:79644/attributed", source="ORDO:79644/ntbt"} -xref: OMIM:601820 {source="MONDO:subClassOf", source="Orphanet:79644", source="ORDO:79644/ntbt"} +xref: ICD10CM:E16.1 {source="Orphanet:79644", source="Orphanet:79644/attributed", source="Orphanet:79644/ntbt"} +xref: OMIM:601820 {source="MONDO:subClassOf", source="Orphanet:79644", source="Orphanet:79644/ntbt"} xref: Orphanet:79644 {source="MONDO:equivalentTo"} xref: UMLS:CN206003 {source="MONDO:equivalentTo"} is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2 @@ -371356,7 +371194,7 @@ subset: ordo_clinical_subtype {source="Orphanet:79651"} synonym: "mHPA" EXACT [Orphanet:79651] synonym: "mild HPA" EXACT [Orphanet:79651] synonym: "non-PKU HPA" EXACT [Orphanet:79651] -xref: ICD10CM:E70.1 {source="ORDO:79651/attributed", source="ORDO:79651/ntbt", source="Orphanet:79651"} +xref: ICD10CM:E70.1 {source="Orphanet:79651/attributed", source="Orphanet:79651/ntbt", source="Orphanet:79651"} xref: Orphanet:79651 {source="MONDO:equivalentTo"} is_a: MONDO:0009861 {source="Orphanet:79651"} ! phenylketonuria relationship: has_modifier HP:0000007 {source="Orphanet:79651"} ! Autosomal recessive inheritance @@ -371371,15 +371209,15 @@ synonym: "Gardner's syndrome" EXACT [NCIT:C6728] synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482] xref: GARD:0006482 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D12.6 {source="ORDO:79665/attributed", source="ORDO:79665/ntbt", source="Orphanet:79665"} +xref: ICD10CM:D12.6 {source="Orphanet:79665/attributed", source="Orphanet:79665/ntbt", source="Orphanet:79665"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10017727 {source="ORDO:79665/e", source="Orphanet:79665"} -xref: MESH:D005736 {source="MONDO:equivalentTo", source="ORDO:79665/e", source="Orphanet:79665"} +xref: MedDRA:10017727 {source="Orphanet:79665/e", source="Orphanet:79665"} +xref: MESH:D005736 {source="Orphanet:79665/e", source="MONDO:equivalentTo", source="Orphanet:79665"} xref: NCIT:C6728 {source="MONDO:equivalentTo"} -xref: OMIM:175100 {source="MONDO:subClassOf", source="MONDO:directSiblingOf", source="ORDO:79665/ntbt", source="Orphanet:79665"} +xref: OMIM:175100 {source="MONDO:subClassOf", source="Orphanet:79665/ntbt", source="MONDO:directSiblingOf", source="Orphanet:79665"} xref: Orphanet:79665 {source="MONDO:equivalentTo"} xref: SCTID:60876000 {source="MONDO:equivalentTo"} -xref: UMLS:C0017097 {source="MONDO:equivalentTo", source="ORDO:79665/e", source="NCIT:C6728", source="Orphanet:79665"} +xref: UMLS:C0017097 {source="Orphanet:79665/e", source="MONDO:equivalentTo", source="NCIT:C6728", source="Orphanet:79665"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0021055 {source="NCIT:C6728", source="Orphanet:79665", source="linkedlifedata"} ! classic familial adenomatous polyposis relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:79665", source="indirect"} ! inherited skin tumor @@ -371430,23 +371268,23 @@ synonym: "sarcoidosis" EXACT [] xref: DOID:11335 {source="MONDO:equivalentTo"} xref: ICD10CM:D80-D89 {source="DOID:11335"} xref: ICD10CM:D86 {source="DOID:11335"} -xref: ICD10CM:D86.0 {source="Orphanet:797", source="ORDO:797/btnt"} -xref: ICD10CM:D86.1 {source="Orphanet:797", source="ORDO:797/btnt"} -xref: ICD10CM:D86.2 {source="Orphanet:797", source="ORDO:797/btnt"} -xref: ICD10CM:D86.3 {source="Orphanet:797", source="MONDO:superClassOf", source="ORDO:797/btnt"} -xref: ICD10CM:D86.8 {source="Orphanet:797", source="ORDO:797/btnt"} -xref: ICD10CM:D86.9 {source="Orphanet:797", source="DOID:11335", source="ORDO:797/btnt"} +xref: ICD10CM:D86.0 {source="Orphanet:797", source="Orphanet:797/btnt"} +xref: ICD10CM:D86.1 {source="Orphanet:797", source="Orphanet:797/btnt"} +xref: ICD10CM:D86.2 {source="Orphanet:797", source="Orphanet:797/btnt"} +xref: ICD10CM:D86.3 {source="Orphanet:797", source="Orphanet:797/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:D86.8 {source="Orphanet:797", source="Orphanet:797/btnt"} +xref: ICD10CM:D86.9 {source="Orphanet:797", source="DOID:11335", source="Orphanet:797/btnt"} xref: ICD9:135 {source="DOID:11335", source="MONDO:superClassOf", source="linkedlifedata"} -xref: MedDRA:10039486 {source="Orphanet:797", source="ORDO:797/e"} -xref: MESH:D012507 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="ORDO:797/e"} +xref: MedDRA:10039486 {source="Orphanet:797", source="Orphanet:797/e"} +xref: MESH:D012507 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="Orphanet:797/e"} xref: NCIT:C34995 {source="DOID:11335", source="MONDO:equivalentTo"} -xref: OMIM:181000 {source="Orphanet:797", source="DOID:11335", source="MONDO:superClassOf", source="ORDO:797/e"} -xref: OMIM:612387 {source="Orphanet:797", source="DOID:11335", source="MONDO:superClassOf", source="ORDO:797/btnt"} -xref: OMIM:612388 {source="Orphanet:797", source="DOID:11335", source="MONDO:superClassOf", source="ORDO:797/btnt"} +xref: OMIM:181000 {source="Orphanet:797", source="DOID:11335", source="Orphanet:797/e", source="MONDO:superClassOf"} +xref: OMIM:612387 {source="Orphanet:797", source="DOID:11335", source="Orphanet:797/btnt", source="MONDO:superClassOf"} +xref: OMIM:612388 {source="Orphanet:797", source="DOID:11335", source="Orphanet:797/btnt", source="MONDO:superClassOf"} xref: Orphanet:797 {source="DOID:11335", source="MONDO:equivalentTo"} xref: SCTID:154425004 {source="DOID:11335"} xref: SCTID:31541009 {source="DOID:11335", source="MONDO:equivalentTo", source="MONDO:superClassOf"} -xref: UMLS:C0036202 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="NCIT:C34995", source="ORDO:797/e"} +xref: UMLS:C0036202 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="Orphanet:797/e", source="NCIT:C34995"} is_a: MONDO:0017955 {source="Orphanet:797"} ! granulomatous autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0002459 {source="DOID:11335"} ! type IV hypersensitivity disease relationship: excluded_subClassOf MONDO:0007179 {source="NCIT:C34995"} ! autoimmune disease @@ -371475,14 +371313,14 @@ synonym: "XYY syndrome" EXACT [NCIT:C85237] synonym: "Y disomy" EXACT [Orphanet:8] synonym: "YY syndrome" RELATED [GARD:0005674] xref: GARD:0005674 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q98.5 {source="ORDO:8/e", source="ORDO:8/specific", source="Orphanet:8"} -xref: MedDRA:10056894 {source="ORDO:8/e", source="Orphanet:8"} -xref: MESH:C535317 {source="ORDO:8/e", source="Orphanet:8", source="MONDO:equivalentTo"} -xref: MESH:D014997 {source="ORDO:8/e", source="Orphanet:8"} +xref: ICD10CM:Q98.5 {source="Orphanet:8", source="Orphanet:8/specific", source="Orphanet:8/e"} +xref: MedDRA:10056894 {source="Orphanet:8", source="Orphanet:8/e"} +xref: MESH:C535317 {source="Orphanet:8", source="MONDO:equivalentTo", source="Orphanet:8/e"} +xref: MESH:D014997 {source="Orphanet:8", source="Orphanet:8/e"} xref: NCIT:C85237 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:8 {source="MONDO:equivalentTo"} xref: SCTID:50749006 {source="MONDO:equivalentTo"} -xref: UMLS:C0043379 {source="ORDO:8/e", source="Orphanet:8", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0043379 {source="Orphanet:8", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:8/e"} xref: UMLS:C3266843 {source="Orphanet:8", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy relationship: disease_arises_from_structure CHR:9606-chrY {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y (Human) @@ -371501,7 +371339,7 @@ synonym: "scleroderma" EXACT [MONDO:0002906, NCIT:C26746] synonym: "scleroderma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:419 {source="MONDO:equivalentTo"} xref: HP:0100324 {source="MONDO:otherHierarchy"} -xref: MedDRA:10039710 {source="ORDO:801/e", source="Orphanet:801"} +xref: MedDRA:10039710 {source="Orphanet:801", source="Orphanet:801/e"} xref: MESH:D012594 {source="DOID:419", source="MONDO:superClassOf"} xref: NCIT:C26746 {source="DOID:419", source="MONDO:equivalentTo"} xref: Orphanet:801 {source="MONDO:equivalentTo"} @@ -371514,7 +371352,7 @@ xref: SCTID:267874003 {source="DOID:419"} xref: SCTID:268049000 {source="DOID:419"} xref: SCTID:287005009 {source="DOID:419"} xref: SCTID:89155008 {source="DOID:419", source="MONDO:superClassOf"} -xref: UMLS:C0011644 {source="ORDO:801/e", source="Orphanet:801", source="DOID:419", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C26746"} +xref: UMLS:C0011644 {source="Orphanet:801", source="DOID:419", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C26746", source="Orphanet:801/e"} xref: UMLS:C0852007 {source="Orphanet:801", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005554 {source="DOID:419", source="NCIT:C26746"} ! rheumatic disorder is_a: MONDO:0007179 {source="DOID:419/inferred", source="MONDO:Redundant", source="NCIT:C26746"} ! autoimmune disease @@ -371534,13 +371372,13 @@ synonym: "Bourneville's syndrome" EXACT [GARD:0000946] synonym: "tuberous sclerosis" BROAD [Orphanet:805] xref: GARD:0000946 {source="MONDO:equivalentTo"} xref: GARD:0007830 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q85.1 {source="ORDO:805/e", source="Orphanet:805", source="ORDO:805/specific"} -xref: MedDRA:10045138 {source="ORDO:805/e", source="Orphanet:805"} -xref: MESH:D014402 {source="MONDO:relatedTo", source="ORDO:805/e", source="Orphanet:805"} -xref: OMIM:191100 {source="ORDO:805/btnt", source="MONDO:superClassOf", source="Orphanet:805"} -xref: OMIM:613254 {source="ORDO:805/btnt", source="MONDO:superClassOf", source="Orphanet:805"} +xref: ICD10CM:Q85.1 {source="Orphanet:805/specific", source="Orphanet:805", source="Orphanet:805/e"} +xref: MedDRA:10045138 {source="Orphanet:805", source="Orphanet:805/e"} +xref: MESH:D014402 {source="MONDO:relatedTo", source="Orphanet:805", source="Orphanet:805/e"} +xref: OMIM:191100 {source="MONDO:superClassOf", source="Orphanet:805", source="Orphanet:805/btnt"} +xref: OMIM:613254 {source="MONDO:superClassOf", source="Orphanet:805", source="Orphanet:805/btnt"} xref: Orphanet:805 {source="MONDO:equivalentTo"} -xref: UMLS:C0041341 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:805/e", source="Orphanet:805", source="GARD:0000946"} +xref: UMLS:C0041341 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:805", source="GARD:0000946", source="Orphanet:805/e"} is_a: MONDO:0016756 {source="Orphanet:805"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0017891 {source="Orphanet:805"} ! inherited renal cancer-predisposing syndrome relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/1489 @@ -371560,25 +371398,25 @@ synonym: "Seckel-type Dwarfism" EXACT [NCIT:C125488] synonym: "Virchow-Seckel dwarfism" EXACT [DOID:0050569] xref: DOID:0050569 {source="MONDO:equivalentTo"} xref: GARD:0008562 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:808/inclusion", source="ORDO:808/ntbt", source="DOID:0050569", source="Orphanet:808"} +xref: ICD10CM:Q87.1 {source="Orphanet:808/inclusion", source="Orphanet:808/ntbt", source="DOID:0050569", source="Orphanet:808"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537533 {source="ORDO:808/e", source="Orphanet:808"} +xref: MESH:C537533 {source="Orphanet:808/e", source="Orphanet:808"} xref: NCIT:C125488 {source="MONDO:equivalentTo"} -xref: OMIM:210600 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="DOID:0050569", source="Orphanet:808"} -xref: OMIM:600546 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="Orphanet:808"} -xref: OMIM:606744 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="DOID:0050569", source="Orphanet:808"} -xref: OMIM:613676 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="DOID:0050569", source="Orphanet:808"} -xref: OMIM:613823 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="DOID:0050569", source="Orphanet:808"} +xref: OMIM:210600 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="DOID:0050569", source="Orphanet:808"} +xref: OMIM:600546 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="Orphanet:808"} +xref: OMIM:606744 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="DOID:0050569", source="Orphanet:808"} +xref: OMIM:613676 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="DOID:0050569", source="Orphanet:808"} +xref: OMIM:613823 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="DOID:0050569", source="Orphanet:808"} xref: OMIM:614728 {source="MONDO:superClassOf", source="DOID:0050569"} xref: OMIM:614851 {source="MONDO:superClassOf", source="DOID:0050569"} -xref: OMIM:615807 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="DOID:0050569", source="Orphanet:808"} -xref: OMIM:616051 {source="ORDO:808/nd", source="MONDO:superClassOf", source="Orphanet:808"} -xref: OMIM:616171 {source="ORDO:808/nd", source="MONDO:superClassOf", source="Orphanet:808"} -xref: OMIM:616777 {source="ORDO:808/btnt", source="MONDO:superClassOf", source="Orphanet:808"} +xref: OMIM:615807 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="DOID:0050569", source="Orphanet:808"} +xref: OMIM:616051 {source="Orphanet:808/nd", source="MONDO:superClassOf", source="Orphanet:808"} +xref: OMIM:616171 {source="Orphanet:808/nd", source="MONDO:superClassOf", source="Orphanet:808"} +xref: OMIM:616777 {source="MONDO:superClassOf", source="Orphanet:808/btnt", source="Orphanet:808"} xref: OMIMPS:210600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:808 {source="MONDO:equivalentTo", source="DOID:0050569"} xref: SCTID:57917004 {source="MONDO:equivalentTo"} -xref: UMLS:C0265202 {source="MONDO:equivalentTo", source="ORDO:808/e", source="NCIT:C125488", source="Orphanet:808"} +xref: UMLS:C0265202 {source="Orphanet:808/e", source="MONDO:equivalentTo", source="NCIT:C125488", source="Orphanet:808"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125488", source="indirect"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050569", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0017950 {source="Orphanet:808"} ! microcephalic primordial dwarfism @@ -371601,13 +371439,13 @@ synonym: "anti-Jo1 syndrome" EXACT [Orphanet:81] synonym: "AS syndrome" EXACT [Orphanet:81] xref: EFO:1001982 {source="MONDO:equivalentTo"} xref: GARD:0000735 {source="MONDO:equivalentTo"} -xref: ICD10CM:M35.8 {source="ORDO:81/ntbt", source="Orphanet:81"} +xref: ICD10CM:M35.8 {source="Orphanet:81", source="Orphanet:81/ntbt"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068801 {source="Orphanet:81", source="ORDO:81/e"} -xref: MESH:C537778 {source="MONDO:equivalentTo", source="Orphanet:81", source="ORDO:81/e"} +xref: MedDRA:10068801 {source="Orphanet:81/e", source="Orphanet:81"} +xref: MESH:C537778 {source="Orphanet:81/e", source="MONDO:equivalentTo", source="Orphanet:81"} xref: Orphanet:81 {source="MONDO:equivalentTo"} xref: SCTID:445187004 {source="MONDO:equivalentTo"} -xref: UMLS:C2609059 {source="MONDO:equivalentTo", source="Orphanet:81", source="ORDO:81/e"} +xref: UMLS:C2609059 {source="Orphanet:81/e", source="MONDO:equivalentTo", source="Orphanet:81"} is_a: MONDO:0020122 {source="Orphanet:81"} ! acquired idiopathic inflammatory myopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome xsd:anyURI {source="GARD:0000735"} @@ -371630,12 +371468,12 @@ xref: DOID:12385 {source="EFO:0005585", source="MONDO:equivalentTo"} xref: EFO:0005585 {source="MONDO:equivalentTo"} xref: GARD:0004818 {source="MONDO:equivalentTo"} xref: ICD10CM:A03 {source="MONDO:equivalentTo", source="DOID:12385"} -xref: ICD10CM:A03.0 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"} -xref: ICD10CM:A03.1 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"} -xref: ICD10CM:A03.2 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"} -xref: ICD10CM:A03.3 {source="Orphanet:810", source="ORDO:810/btnt"} -xref: ICD10CM:A03.8 {source="Orphanet:810", source="ORDO:810/btnt"} -xref: ICD10CM:A03.9 {source="Orphanet:810", source="ORDO:810/btnt", source="DOID:12385"} +xref: ICD10CM:A03.0 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"} +xref: ICD10CM:A03.1 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"} +xref: ICD10CM:A03.2 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"} +xref: ICD10CM:A03.3 {source="Orphanet:810", source="Orphanet:810/btnt"} +xref: ICD10CM:A03.8 {source="Orphanet:810", source="Orphanet:810/btnt"} +xref: ICD10CM:A03.9 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"} xref: ICD9:004 {source="EFO:0005585", source="DOID:12385"} xref: ICD9:004.0 {source="DOID:12385"} xref: ICD9:004.1 {source="DOID:12385"} @@ -371643,8 +371481,8 @@ xref: ICD9:004.2 {source="DOID:12385"} xref: ICD9:004.3 {source="DOID:12385"} xref: ICD9:004.9 {source="DOID:12385", source="linkedlifedata"} xref: KEGG:05131 {source="MONDO:relatedTo", source="DOID:12385"} -xref: MedDRA:10017915 {source="ORDO:810/e", source="Orphanet:810"} -xref: MedDRA:10054178 {source="ORDO:810/e", source="Orphanet:810"} +xref: MedDRA:10017915 {source="Orphanet:810", source="Orphanet:810/e"} +xref: MedDRA:10054178 {source="Orphanet:810", source="Orphanet:810/e"} xref: MESH:D004405 {source="MONDO:equivalentTo", source="DOID:12385"} xref: Orphanet:810 {source="MONDO:equivalentTo"} xref: SCTID:111817006 {source="DOID:12385"} @@ -371658,7 +371496,7 @@ xref: SCTID:34335000 {source="DOID:12385"} xref: SCTID:36188001 {source="EFO:0005585", source="MONDO:equivalentTo", source="DOID:12385"} xref: SCTID:55760004 {source="DOID:12385"} xref: SCTID:66301008 {source="DOID:12385"} -xref: UMLS:C0013371 {source="ORDO:810/e", source="Orphanet:810", source="MONDO:notFoundInDiseaseSubset", source="DOID:12385"} +xref: UMLS:C0013371 {source="Orphanet:810", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:810/e", source="DOID:12385"} xref: UMLS:C0302358 {source="MONDO:notFoundInDiseaseSubset", source="DOID:12385"} xref: UMLS:C0302359 {source="MONDO:notFoundInDiseaseSubset", source="DOID:12385"} xref: UMLS:C0302360 {source="MONDO:notFoundInDiseaseSubset", source="DOID:12385"} @@ -371689,11 +371527,11 @@ synonym: "Normomorphic sialidosis" EXACT [Orphanet:812] synonym: "normosomatic sialidosis" EXACT [] synonym: "sialidosis type I" RELATED [GARD:0007639] xref: GARD:0007639 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E77.1 {source="Orphanet:812", source="ORDO:812/attributed", source="ORDO:812/ntbt"} -xref: OMIM:256550 {source="MONDO:subClassOf", source="Orphanet:812", source="ORDO:812/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:E77.1 {source="Orphanet:812/attributed", source="Orphanet:812/ntbt", source="Orphanet:812"} +xref: OMIM:256550 {source="MONDO:subClassOf", source="Orphanet:812/ntbt", source="Orphanet:812", source="MONDO:directSiblingOf"} xref: Orphanet:812 {source="MONDO:equivalentTo"} xref: SCTID:34960006 {source="MONDO:equivalentTo"} -xref: UMLS:C0023806 {source="ORDO:812/e", source="Orphanet:812", source="MONDO:equivalentTo"} +xref: UMLS:C0023806 {source="Orphanet:812", source="MONDO:equivalentTo", source="Orphanet:812/e"} xref: UMLS:C0268226 {source="Orphanet:812", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1850510 {source="Orphanet:812", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN206021 {source="MONDO:equivalentTo"} @@ -371719,7 +371557,7 @@ synonym: "PSS" EXACT ABBREVIATION [Orphanet:817] synonym: "skin peeling syndrome" RELATED [GARD:0007347] xref: DOID:0060283 {source="MONDO:equivalentTo"} xref: GARD:0007347 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q80.8 {source="ORDO:817/attributed", source="ORDO:817/ntbt", source="Orphanet:817", source="DOID:0060283"} +xref: ICD10CM:Q80.8 {source="Orphanet:817/attributed", source="Orphanet:817/ntbt", source="Orphanet:817", source="DOID:0060283"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:270300 {source="MONDO:superClassOf", source="DOID:0060283"} xref: OMIM:613088 {source="MONDO:superClassOf", source="DOID:0060283"} @@ -371728,7 +371566,7 @@ xref: Orphanet:263543 {source="MONDO:superClassOf", source="DOID:0060283"} xref: Orphanet:817 {source="MONDO:equivalentTo"} xref: SCTID:239065004 {source="MONDO:equivalentTo"} xref: UMLS:C0343064 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:817"} -xref: UMLS:C0406357 {source="ORDO:817/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:817"} +xref: UMLS:C0406357 {source="Orphanet:817/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:817"} xref: UMLS:C1849193 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:817"} is_a: MONDO:0017262 {source="Orphanet:817", source="PMID:20643494"} ! inherited non-syndromic ichthyosis relationship: has_modifier MONDO:0021152 {source="OMIMPS:270300"} ! inherited @@ -371739,8 +371577,8 @@ name: obsolete Ehlers-Danlos syndrome with periventricular heterotopia def: "OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." [Orphanet:82004] comment: Obsolete in Orphanet synonym: "EDS with periventricular heterotopia" EXACT [Orphanet:82004] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:82004", source="ORDO:82004/attributed", source="ORDO:82004/ntbt"} -xref: OMIM:300537 {source="ORDO:82004/e", source="Orphanet:82004", source="MONDO:obsoleteEquivalentObsolete"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:82004", source="Orphanet:82004/attributed", source="Orphanet:82004/ntbt"} +xref: OMIM:300537 {source="Orphanet:82004", source="Orphanet:82004/e", source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:82004 {source="MONDO:obsoleteEquivalent"} xref: SCTID:720857006 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1845235 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:82004"} @@ -371760,17 +371598,17 @@ synonym: "Sotos syndrome" EXACT CLINGEN_PREFERRED [] synonym: "Sotos' syndrome" EXACT [NCIT:C75019] xref: DOID:14748 {source="MONDO:equivalentTo"} xref: GARD:0010091 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.3 {source="DOID:14748", source="Orphanet:821", source="ORDO:821/inclusion", source="ORDO:821/ntbt"} -xref: MedDRA:10064387 {source="ORDO:821/e", source="Orphanet:821"} -xref: MESH:D058495 {source="ORDO:821/e", source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo"} +xref: ICD10CM:Q87.3 {source="Orphanet:821/inclusion", source="DOID:14748", source="Orphanet:821", source="Orphanet:821/ntbt"} +xref: MedDRA:10064387 {source="Orphanet:821", source="Orphanet:821/e"} +xref: MESH:D058495 {source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"} xref: NCIT:C75019 {source="DOID:14748", source="MONDO:equivalentTo"} -xref: OMIM:117550 {source="DOID:14748", source="Orphanet:821", source="MONDO:superClassOf", source="ORDO:821/btnt"} +xref: OMIM:117550 {source="DOID:14748", source="Orphanet:821", source="Orphanet:821/btnt", source="MONDO:superClassOf"} xref: OMIM:614753 {source="DOID:14748", source="MONDO:superClassOf"} -xref: OMIM:617169 {source="Orphanet:821", source="MONDO:superClassOf", source="ORDO:821/btnt"} +xref: OMIM:617169 {source="Orphanet:821", source="Orphanet:821/btnt", source="MONDO:superClassOf"} xref: OMIMPS:117550 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:821 {source="DOID:14748", source="MONDO:equivalentTo"} xref: SCTID:75968004 {source="DOID:14748", source="MONDO:superClassOf"} -xref: UMLS:C0175695 {source="NCIT:C75019", source="ORDO:821/e", source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo"} +xref: UMLS:C0175695 {source="NCIT:C75019", source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"} xref: UMLS:CN239475 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75019", source="indirect"} ! syndromic disease is_a: MONDO:0005071 ! nervous system disorder @@ -371796,22 +371634,22 @@ synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822] synonym: "spherocytic anemia" EXACT [DOID:12971] xref: DOID:12971 {source="MONDO:equivalentTo"} xref: GARD:0006639 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.0 {source="ORDO:822/e", source="ORDO:822/specific", source="Orphanet:822", source="MONDO:equivalentTo", source="DOID:12971"} +xref: ICD10CM:D58.0 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/specific", source="Orphanet:822/e", source="DOID:12971"} xref: ICD9:282.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:12971"} -xref: MedDRA:10019904 {source="ORDO:822/e", source="Orphanet:822"} -xref: MESH:C536356 {source="ORDO:822/e", source="Orphanet:822"} -xref: MESH:D013103 {source="ORDO:822/e", source="Orphanet:822", source="MONDO:equivalentTo", source="DOID:12971"} +xref: MedDRA:10019904 {source="Orphanet:822", source="Orphanet:822/e"} +xref: MESH:C536356 {source="Orphanet:822", source="Orphanet:822/e"} +xref: MESH:D013103 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/e", source="DOID:12971"} xref: NCIT:C97074 {source="MONDO:equivalentTo", source="DOID:12971"} -xref: OMIM:182900 {source="ORDO:822/e", source="Orphanet:822", source="MONDO:superClassOf"} -xref: OMIM:270970 {source="Orphanet:822", source="MONDO:superClassOf", source="ORDO:822/btnt"} -xref: OMIM:612653 {source="Orphanet:822", source="MONDO:superClassOf", source="ORDO:822/btnt"} -xref: OMIM:612690 {source="Orphanet:822", source="MONDO:superClassOf", source="ORDO:822/btnt"} -xref: OMIM:616649 {source="Orphanet:822", source="MONDO:superClassOf", source="ORDO:822/btnt"} +xref: OMIM:182900 {source="Orphanet:822", source="MONDO:superClassOf", source="Orphanet:822/e"} +xref: OMIM:270970 {source="Orphanet:822/btnt", source="Orphanet:822", source="MONDO:superClassOf"} +xref: OMIM:612653 {source="Orphanet:822/btnt", source="Orphanet:822", source="MONDO:superClassOf"} +xref: OMIM:612690 {source="Orphanet:822/btnt", source="Orphanet:822", source="MONDO:superClassOf"} +xref: OMIM:616649 {source="Orphanet:822/btnt", source="Orphanet:822", source="MONDO:superClassOf"} xref: Orphanet:822 {source="MONDO:equivalentTo", source="DOID:12971"} xref: SCTID:154795009 {source="DOID:12971"} xref: SCTID:55995005 {source="MONDO:equivalentTo", source="DOID:12971"} -xref: UMLS:C0037889 {source="ORDO:822/e", source="NCIT:C97074", source="Orphanet:822", source="MONDO:equivalentTo", source="DOID:12971"} -xref: UMLS:C0221409 {source="ORDO:822/e", source="Orphanet:822", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0037889 {source="NCIT:C97074", source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/e", source="DOID:12971"} +xref: UMLS:C0221409 {source="Orphanet:822", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:822/e"} xref: UMLS:CN206031 {source="MONDO:equivalentTo"} is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0003689 {source="DOID:12971", source="MESH:D013103", source="NCIT:C97074/inferred"} ! familial hemolytic anemia @@ -371829,24 +371667,24 @@ synonym: "isolated spina bifida (disease)" EXACT [] synonym: "nonsyndromic spina bifida (disease)" EXACT [MONDO:patterns/isolated] synonym: "open spine" RELATED [GARD:0007673] xref: GARD:0007673 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q05.0 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.1 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.2 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.3 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.4 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.5 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.6 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.7 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.8 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: ICD10CM:Q05.9 {source="ORDO:823/specific", source="Orphanet:823", source="ORDO:823/btnt"} -xref: MedDRA:10041524 {source="ORDO:823/e", source="Orphanet:823"} -xref: MESH:D016135 {source="MONDO:subClassOf", source="ORDO:823/e", source="Orphanet:823"} -xref: OMIM:182940 {source="MONDO:relatedTo", source="Orphanet:823", source="EFO:0003105", source="ORDO:823/btnt"} -xref: OMIM:301410 {source="Orphanet:823", source="MONDO:superClassOf", source="ORDO:823/btnt"} -xref: OMIM:601634 {source="Orphanet:823", source="MONDO:superClassOf", source="ORDO:823/btnt"} +xref: ICD10CM:Q05.0 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.1 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.2 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.3 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.4 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.5 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.6 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.7 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.8 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: ICD10CM:Q05.9 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} +xref: MedDRA:10041524 {source="Orphanet:823", source="Orphanet:823/e"} +xref: MESH:D016135 {source="MONDO:subClassOf", source="Orphanet:823", source="Orphanet:823/e"} +xref: OMIM:182940 {source="Orphanet:823/btnt", source="MONDO:relatedTo", source="Orphanet:823", source="EFO:0003105"} +xref: OMIM:301410 {source="Orphanet:823/btnt", source="Orphanet:823", source="MONDO:superClassOf"} +xref: OMIM:601634 {source="Orphanet:823/btnt", source="Orphanet:823", source="MONDO:superClassOf"} xref: Orphanet:823 {source="MONDO:equivalentTo"} xref: UMLS:C0027794 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0080178 {source="ORDO:823/e", source="Orphanet:823", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0080178 {source="Orphanet:823", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:823/e"} intersection_of: MONDO:0008449 ! spina bifida intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -371869,15 +371707,15 @@ synonym: "Stargardt disease 1" NARROW [DOID:0050817] synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181] xref: DOID:0050817 {source="MONDO:equivalentTo"} xref: GARD:0000181 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:827/ntbt", source="Orphanet:827", source="ORDO:827/inclusion"} -xref: MedDRA:10062766 {source="ORDO:827/e", source="Orphanet:827"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:827/inclusion", source="Orphanet:827", source="Orphanet:827/ntbt"} +xref: MedDRA:10062766 {source="Orphanet:827", source="Orphanet:827/e"} xref: NCIT:C85078 {source="MONDO:equivalentTo"} -xref: OMIM:248200 {source="MONDO:superClassOf", source="ORDO:827/e", source="Orphanet:827", source="DOID:0050817"} -xref: OMIM:600110 {source="ORDO:827/btnt", source="MONDO:superClassOf", source="Orphanet:827", source="DOID:0050817"} -xref: OMIM:603786 {source="ORDO:827/btnt", source="MONDO:superClassOf", source="Orphanet:827", source="DOID:0050817"} +xref: OMIM:248200 {source="MONDO:superClassOf", source="Orphanet:827", source="Orphanet:827/e", source="DOID:0050817"} +xref: OMIM:600110 {source="MONDO:superClassOf", source="Orphanet:827", source="Orphanet:827/btnt", source="DOID:0050817"} +xref: OMIM:603786 {source="MONDO:superClassOf", source="Orphanet:827", source="Orphanet:827/btnt", source="DOID:0050817"} xref: Orphanet:827 {source="MONDO:equivalentTo"} xref: SCTID:47673003 {source="MONDO:equivalentTo"} -xref: UMLS:C0271093 {source="MONDO:equivalentTo", source="ORDO:827/e", source="Orphanet:827", source="NCIT:C85078"} +xref: UMLS:C0271093 {source="MONDO:equivalentTo", source="Orphanet:827", source="NCIT:C85078", source="Orphanet:827/e"} xref: UMLS:C1855465 {source="MONDO:equivalentTo", source="Orphanet:827"} is_a: MONDO:0003004 {source="DOID:0050817/inferred", source="MONDO:Redundant", source="NCIT:C85078", source="indirect", source="linkedlifedata"} ! macular degeneration is_a: MONDO:0005150 {source="DOID:0050817"} ! age-related macular degeneration @@ -371894,21 +371732,21 @@ synonym: "hereditary progressive arthroophthalmopathy" EXACT [Orphanet:828] synonym: "Stickler syndrome" EXACT CLINGEN_PREFERRED [] xref: DOID:0080046 {source="MONDO:equivalentTo"} xref: GARD:0010782 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.0 {source="ORDO:828/attributed", source="ORDO:828/ntbt", source="Orphanet:828"} +xref: ICD10CM:Q87.0 {source="Orphanet:828/attributed", source="Orphanet:828/ntbt", source="Orphanet:828"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10063402 {source="ORDO:828/e", source="Orphanet:828"} -xref: MESH:C537492 {source="ORDO:828/e", source="MONDO:superClassOf", source="Orphanet:828"} +xref: MedDRA:10063402 {source="Orphanet:828/e", source="Orphanet:828"} +xref: MESH:C537492 {source="Orphanet:828/e", source="MONDO:superClassOf", source="Orphanet:828"} xref: NCIT:C74984 {source="MONDO:equivalentTo"} -xref: OMIM:108300 {source="DOID:0080046", source="ORDO:828/btnt", source="MONDO:superClassOf", source="Orphanet:828"} +xref: OMIM:108300 {source="DOID:0080046", source="MONDO:superClassOf", source="Orphanet:828/btnt", source="Orphanet:828"} xref: OMIM:184840 {source="DOID:0080046", source="MONDO:superClassOf"} -xref: OMIM:604841 {source="DOID:0080046", source="ORDO:828/btnt", source="MONDO:superClassOf", source="Orphanet:828"} -xref: OMIM:609508 {source="ORDO:828/btnt", source="MONDO:superClassOf", source="Orphanet:828"} -xref: OMIM:614134 {source="ORDO:828/btnt", source="MONDO:superClassOf", source="Orphanet:828"} -xref: OMIM:614284 {source="ORDO:828/btnt", source="MONDO:superClassOf", source="Orphanet:828"} +xref: OMIM:604841 {source="DOID:0080046", source="MONDO:superClassOf", source="Orphanet:828/btnt", source="Orphanet:828"} +xref: OMIM:609508 {source="MONDO:superClassOf", source="Orphanet:828/btnt", source="Orphanet:828"} +xref: OMIM:614134 {source="MONDO:superClassOf", source="Orphanet:828/btnt", source="Orphanet:828"} +xref: OMIM:614284 {source="MONDO:superClassOf", source="Orphanet:828/btnt", source="Orphanet:828"} xref: OMIMPS:108300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:828 {source="MONDO:equivalentTo"} xref: SCTID:78675000 {source="MONDO:equivalentTo"} -xref: UMLS:C0265253 {source="MONDO:equivalentTo", source="ORDO:828/e", source="Orphanet:828", source="NCIT:C74984"} +xref: UMLS:C0265253 {source="Orphanet:828/e", source="MONDO:equivalentTo", source="Orphanet:828", source="NCIT:C74984"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74984", source="indirect"} ! syndromic disease is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder @@ -371936,20 +371774,20 @@ synonym: "Wissler-Fanconi syndrome" EXACT [Orphanet:829] xref: DOID:14256 {source="MONDO:equivalentTo", source="EFO:0007135"} xref: EFO:0007135 {source="MONDO:equivalentTo"} xref: GARD:0000436 {source="MONDO:equivalentTo"} -xref: ICD10CM:M06.1 {source="ORDO:829/e", source="DOID:14256", source="Orphanet:829"} +xref: ICD10CM:M06.1 {source="Orphanet:829/e", source="DOID:14256", source="Orphanet:829"} xref: ICD9:714.2 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058493 {source="ORDO:829/e", source="Orphanet:829"} -xref: MedDRA:10064056 {source="ORDO:829/e", source="Orphanet:829"} -xref: MESH:D014924 {source="MONDO:relatedTo", source="ORDO:829/e", source="Orphanet:829"} -xref: MESH:D016706 {source="MONDO:equivalentTo", source="ORDO:829/e", source="DOID:14256", source="Orphanet:829", source="EFO:0007135"} +xref: MedDRA:10058493 {source="Orphanet:829/e", source="Orphanet:829"} +xref: MedDRA:10064056 {source="Orphanet:829/e", source="Orphanet:829"} +xref: MESH:D014924 {source="Orphanet:829/e", source="MONDO:relatedTo", source="Orphanet:829"} +xref: MESH:D016706 {source="Orphanet:829/e", source="MONDO:equivalentTo", source="DOID:14256", source="Orphanet:829", source="EFO:0007135"} xref: Orphanet:829 {source="MONDO:equivalentTo", source="GARD:0000436"} xref: SCTID:201449008 {source="DOID:14256"} xref: SCTID:201815006 {source="DOID:14256"} xref: SCTID:239920006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:14256"} xref: SCTID:68190001 {source="MONDO:equivalentTo"} -xref: UMLS:C0043195 {source="MONDO:relatedTo", source="ORDO:829/e", source="Orphanet:829"} -xref: UMLS:C0085253 {source="MONDO:equivalentTo", source="ORDO:829/e", source="DOID:14256", source="Orphanet:829"} +xref: UMLS:C0043195 {source="Orphanet:829/e", source="MONDO:relatedTo", source="Orphanet:829"} +xref: UMLS:C0085253 {source="Orphanet:829/e", source="MONDO:equivalentTo", source="DOID:14256", source="Orphanet:829"} xref: UMLS:CN206037 {source="MONDO:equivalentTo"} is_a: MONDO:0005554 {source="Orphanet:829", source="indirect"} ! rheumatic disorder is_a: MONDO:0005578 {source="DOID:14256", source="EFO:0007135", source="MESH:D016706/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthritic joint disease @@ -371978,7 +371816,7 @@ def: "Congenital cervical spinal stenosis is a rare neurological disease charact subset: ordo_disease {source="Orphanet:831"} synonym: "congenital cervical spinal stenosis" RELATED [Orphanet:831] synonym: "congenital stenosis of the cervical spine" EXACT [Orphanet:831] -xref: ICD10CM:Q06.8 {source="Orphanet:831", source="ORDO:831/ntbt"} +xref: ICD10CM:Q06.8 {source="Orphanet:831/ntbt", source="Orphanet:831"} xref: Orphanet:831 {source="MONDO:equivalentTo"} is_a: MONDO:0015141 {source="Orphanet:831"} ! disorder of medulla oblongata @@ -371987,11 +371825,11 @@ id: MONDO:0019358 name: encephalopathy due to sulfite oxidase deficiency def: "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." [Orphanet:833] subset: ordo_disease {source="Orphanet:833"} -xref: ICD10CM:E72.1 {source="Orphanet:833", source="ORDO:833/inclusion", source="ORDO:833/ntbt"} -xref: OMIM:252150 {source="Orphanet:833", source="MONDO:superClassOf", source="ORDO:833/btnt"} -xref: OMIM:252160 {source="Orphanet:833", source="MONDO:superClassOf", source="ORDO:833/btnt"} -xref: OMIM:272300 {source="Orphanet:833", source="MONDO:superClassOf", source="ORDO:833/btnt"} -xref: OMIM:615501 {source="Orphanet:833", source="MONDO:superClassOf", source="ORDO:833/btnt"} +xref: ICD10CM:E72.1 {source="Orphanet:833/inclusion", source="Orphanet:833/ntbt", source="Orphanet:833"} +xref: OMIM:252150 {source="Orphanet:833/btnt", source="Orphanet:833", source="MONDO:superClassOf"} +xref: OMIM:252160 {source="Orphanet:833/btnt", source="Orphanet:833", source="MONDO:superClassOf"} +xref: OMIM:272300 {source="Orphanet:833/btnt", source="Orphanet:833", source="MONDO:superClassOf"} +xref: OMIM:615501 {source="Orphanet:833/btnt", source="Orphanet:833", source="MONDO:superClassOf"} xref: Orphanet:833 {source="MONDO:equivalentTo"} xref: SCTID:715980003 {source="MONDO:equivalentTo"} xref: UMLS:C4275019 {source="MONDO:equivalentTo"} @@ -372019,13 +371857,13 @@ synonym: "Tick typhus" RELATED [DOID:0050052] synonym: "Tobia fever" RELATED [DOID:0050052] xref: DOID:0050052 {source="MONDO:equivalentTo"} xref: GARD:0007585 {source="MONDO:equivalentTo"} -xref: ICD10CM:A77.0 {source="ORDO:83311/e", source="Orphanet:83311"} -xref: MedDRA:10039207 {source="ORDO:83311/e", source="Orphanet:83311"} -xref: MESH:D012373 {source="ORDO:83311/e", source="Orphanet:83311", source="MONDO:equivalentTo"} +xref: ICD10CM:A77.0 {source="Orphanet:83311", source="Orphanet:83311/e"} +xref: MedDRA:10039207 {source="Orphanet:83311", source="Orphanet:83311/e"} +xref: MESH:D012373 {source="Orphanet:83311", source="MONDO:equivalentTo", source="Orphanet:83311/e"} xref: NCIT:C128410 {source="MONDO:equivalentTo"} xref: Orphanet:83311 {source="MONDO:equivalentTo"} xref: SCTID:186772009 {source="MONDO:equivalentTo"} -xref: UMLS:C0035793 {source="ORDO:83311/e", source="NCIT:C128410", source="Orphanet:83311", source="MONDO:equivalentTo"} +xref: UMLS:C0035793 {source="NCIT:C128410", source="Orphanet:83311", source="MONDO:equivalentTo", source="Orphanet:83311/e"} is_a: MONDO:0001195 {source="DOID:0050052", source="Orphanet:83311", source="linkedlifedata"} ! spotted fever is_a: MONDO:0006956 {source="MESH:D012373", source="MONDO:Redundant", source="NCIT:C128410", source="Orphanet:83311/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Rickettsiosis relationship: disease_has_infectious_agent NCBITaxon:783 ! Rickettsia rickettsii @@ -372040,13 +371878,13 @@ subset: ordo_disease {source="Orphanet:83312"} synonym: "Rickettsia akari spotted fever" EXACT [DOID:11103] synonym: "vesicular rickettsiosis" EXACT [DOID:11103] xref: DOID:11103 {source="MONDO:equivalentTo"} -xref: ICD10CM:A79.1 {source="ORDO:83312/e", source="Orphanet:83312", source="DOID:11103"} +xref: ICD10CM:A79.1 {source="Orphanet:83312", source="Orphanet:83312/e", source="DOID:11103"} xref: ICD9:083.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:11103"} -xref: MedDRA:10039137 {source="ORDO:83312/e", source="Orphanet:83312"} +xref: MedDRA:10039137 {source="Orphanet:83312", source="Orphanet:83312/e"} xref: MESH:D012288 {source="MONDO:relatedTo", source="DOID:11103"} xref: Orphanet:83312 {source="MONDO:equivalentTo"} xref: SCTID:75096007 {source="MONDO:equivalentTo", source="DOID:11103"} -xref: UMLS:C0035597 {source="ORDO:83312/e", source="Orphanet:83312", source="MONDO:equivalentTo", source="DOID:11103"} +xref: UMLS:C0035597 {source="Orphanet:83312", source="MONDO:equivalentTo", source="Orphanet:83312/e", source="DOID:11103"} is_a: MONDO:0001195 {source="DOID:11103", source="MONDO:Redundant", source="Orphanet:83312", source="linkedlifedata"} ! spotted fever intersection_of: MONDO:0001195 ! spotted fever intersection_of: disease_has_infectious_agent NCBITaxon:786 ! Rickettsia akari @@ -372068,12 +371906,12 @@ synonym: "epidemic typhus fever" EXACT [NCIT:C84689] synonym: "sylvatic typhus" EXACT [DOID:0050480] synonym: "typhus" BROAD [Wikipedia:Typhus] xref: DOID:0050480 {source="MONDO:equivalentTo"} -xref: ICD10CM:A75.0 {source="ORDO:83314/e", source="Orphanet:83314"} -xref: MedDRA:10014979 {source="ORDO:83314/e", source="Orphanet:83314"} -xref: MESH:D014438 {source="ORDO:83314/e", source="Orphanet:83314"} +xref: ICD10CM:A75.0 {source="Orphanet:83314", source="Orphanet:83314/e"} +xref: MedDRA:10014979 {source="Orphanet:83314", source="Orphanet:83314/e"} +xref: MESH:D014438 {source="Orphanet:83314", source="Orphanet:83314/e"} xref: NCIT:C84689 {source="MONDO:equivalentTo"} xref: Orphanet:83314 {source="MONDO:equivalentTo"} -xref: UMLS:C0041473 {source="NCIT:C84689", source="ORDO:83314/e", source="Orphanet:83314", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0041473 {source="NCIT:C84689", source="Orphanet:83314", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:83314/e"} is_a: MONDO:0001246 {source="DOID:0050480", source="MONDO:Redundant", source="Orphanet:83314"} ! typhus is_a: MONDO:0005113 {source="DOID:0050480/inferred", source="MONDO:Redundant", source="NCIT:C84689", source="indirect"} ! bacterial infectious disease intersection_of: MONDO:0001246 ! typhus @@ -372093,7 +371931,7 @@ id: MONDO:0019364 name: pseudotyphus of California def: "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." [Orphanet:83316] subset: ordo_disease {source="Orphanet:83316"} -xref: ICD10CM:A79.8 {source="ORDO:83316/ntbt", source="Orphanet:83316"} +xref: ICD10CM:A79.8 {source="Orphanet:83316", source="Orphanet:83316/ntbt"} xref: Orphanet:83316 {source="MONDO:equivalentTo"} xref: SCTID:764104003 {source="MONDO:equivalentTo"} is_a: MONDO:0001195 {source="Orphanet:83316"} ! spotted fever @@ -372121,10 +371959,10 @@ synonym: "tsutsugamushi fever" EXACT [DOID:13371, Orphanet:83317] synonym: "typhus fever due to Rickettsia tsutsugamushi" RELATED [DOID:13371] xref: DOID:13371 {source="MONDO:equivalentTo", source="EFO:0007480"} xref: EFO:0007480 {source="MONDO:equivalentTo"} -xref: ICD10CM:A75.3 {source="ORDO:83317/e", source="DOID:13371", source="Orphanet:83317"} +xref: ICD10CM:A75.3 {source="Orphanet:83317/e", source="DOID:13371", source="Orphanet:83317"} xref: ICD9:081.2 {source="MONDO:equivalentTo", source="DOID:13371", source="i2s"} -xref: MedDRA:10039766 {source="ORDO:83317/e", source="Orphanet:83317"} -xref: MESH:D012612 {source="MONDO:equivalentTo", source="ORDO:83317/e", source="DOID:13371", source="EFO:0007480", source="Orphanet:83317"} +xref: MedDRA:10039766 {source="Orphanet:83317/e", source="Orphanet:83317"} +xref: MESH:D012612 {source="Orphanet:83317/e", source="MONDO:equivalentTo", source="DOID:13371", source="EFO:0007480", source="Orphanet:83317"} xref: Orphanet:83317 {source="MONDO:equivalentTo"} xref: SCTID:186768005 {source="DOID:13371"} xref: SCTID:240620004 {source="DOID:13371"} @@ -372132,7 +371970,7 @@ xref: SCTID:240621000 {source="DOID:13371"} xref: SCTID:240622007 {source="DOID:13371"} xref: SCTID:271425001 {source="MONDO:equivalentTo", source="DOID:13371"} xref: SCTID:73911003 {source="DOID:13371"} -xref: UMLS:C0036472 {source="MONDO:equivalentTo", source="ORDO:83317/e", source="DOID:13371", source="Orphanet:83317"} +xref: UMLS:C0036472 {source="Orphanet:83317/e", source="MONDO:equivalentTo", source="DOID:13371", source="Orphanet:83317"} is_a: MONDO:0001246 {source="DOID:13371", source="MONDO:Redundant"} ! typhus is_a: MONDO:0005113 {source="MONDO:Redundant", source="Orphanet:83317", source="indirect"} ! bacterial infectious disease is_a: MONDO:0600003 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! bacterial hemorrhagic fever @@ -372149,15 +371987,15 @@ def: "Free sialic acid storage disease (free SASD), is a group of lysosomal stor subset: ordo_disease {source="Orphanet:834"} synonym: "free sialic acid storage disease" EXACT CLINGEN_PREFERRED [] xref: GARD:0010870 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E77.8 {source="Orphanet:834", source="ORDO:834/attributed", source="ORDO:834/ntbt"} -xref: MedDRA:10067529 {source="ORDO:834/e", source="Orphanet:834"} -xref: MedDRA:10067531 {source="ORDO:834/e", source="Orphanet:834"} -xref: MESH:C538523 {source="ORDO:834/e", source="Orphanet:834", source="MONDO:equivalentTo"} -xref: OMIM:269920 {source="Orphanet:834", source="MONDO:superClassOf", source="ORDO:834/btnt"} -xref: OMIM:604369 {source="Orphanet:834", source="MONDO:superClassOf", source="ORDO:834/btnt"} +xref: ICD10CM:E77.8 {source="Orphanet:834/attributed", source="Orphanet:834/ntbt", source="Orphanet:834"} +xref: MedDRA:10067529 {source="Orphanet:834", source="Orphanet:834/e"} +xref: MedDRA:10067531 {source="Orphanet:834", source="Orphanet:834/e"} +xref: MESH:C538523 {source="Orphanet:834", source="MONDO:equivalentTo", source="Orphanet:834/e"} +xref: OMIM:269920 {source="Orphanet:834/btnt", source="Orphanet:834", source="MONDO:superClassOf"} +xref: OMIM:604369 {source="Orphanet:834/btnt", source="Orphanet:834", source="MONDO:superClassOf"} xref: Orphanet:834 {source="MONDO:equivalentTo"} xref: UMLS:C0342853 {source="Orphanet:834", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C2931872 {source="ORDO:834/e", source="Orphanet:834", source="MONDO:equivalentTo"} +xref: UMLS:C2931872 {source="Orphanet:834", source="MONDO:equivalentTo", source="Orphanet:834/e"} xref: UMLS:CN206051 {source="MONDO:equivalentTo"} is_a: MONDO:0019058 {source="Orphanet:834"} ! neurometabolic disease is_a: MONDO:0019246 {source="Orphanet:834"} ! inborn disorder of lysosomal amino acid transport @@ -372168,7 +372006,7 @@ name: regional odontodysplasia def: "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues." [Orphanet:83450] subset: ordo_disease {source="Orphanet:83450"} synonym: "ghost teeth" EXACT [Orphanet:83450] -xref: ICD10CM:K00.4 {source="Orphanet:83450", source="ORDO:83450/ntbt"} +xref: ICD10CM:K00.4 {source="Orphanet:83450", source="Orphanet:83450/ntbt"} xref: MESH:D018126 {source="MONDO:equivalentTo"} xref: Orphanet:83450 {source="MONDO:equivalentTo"} xref: SCTID:66063001 {source="MONDO:equivalentTo"} @@ -372184,15 +372022,15 @@ synonym: "florid osseous dysplasia" EXACT [Orphanet:83451] synonym: "focal cemento-osseous dysplasia" EXACT [Orphanet:83451] synonym: "Gigantiform cementoma" RELATED [GARD:0010173] xref: GARD:0010173 {source="MONDO:equivalentTo"} -xref: ICD10CM:D16.4 {source="Orphanet:83451", source="ORDO:83451/ntbt"} -xref: ICD10CM:D16.5 {source="Orphanet:83451", source="MONDO:relatedTo", source="ORDO:83451/ntbt"} +xref: ICD10CM:D16.4 {source="Orphanet:83451", source="Orphanet:83451/ntbt"} +xref: ICD10CM:D16.5 {source="Orphanet:83451", source="MONDO:relatedTo", source="Orphanet:83451/ntbt"} xref: ICDO:9275/0 {source="NCIT:C8381"} -xref: MESH:C537063 {source="Orphanet:83451", source="MONDO:equivalentTo", source="ORDO:83451/e"} +xref: MESH:C537063 {source="Orphanet:83451", source="MONDO:equivalentTo", source="Orphanet:83451/e"} xref: NCIT:C8381 {source="MONDO:equivalentTo"} xref: OMIM:137575 {source="MONDO:relatedTo", source="GARD:0010173"} xref: Orphanet:83451 {source="MONDO:equivalentTo"} xref: SCTID:715634002 {source="MONDO:equivalentTo"} -xref: UMLS:C0555197 {source="Orphanet:83451", source="MONDO:equivalentTo", source="NCIT:C8381", source="ORDO:83451/e"} +xref: UMLS:C0555197 {source="Orphanet:83451", source="MONDO:equivalentTo", source="Orphanet:83451/e", source="NCIT:C8381"} is_a: MONDO:0006858 {source="GARD:0010173", source="https://github.com/monarch-initiative/mondo/issues/3063"} ! mouth disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia xsd:anyURI {source="GARD:0010173"} @@ -372207,21 +372045,21 @@ synonym: "CRPS" RELATED ABBREVIATION [GARD:0004647] synonym: "reflex sympathetic dystrophy" RELATED [GARD:0004647] xref: DOID:3223 {source="MONDO:equivalentTo"} xref: GARD:0004647 {source="MONDO:equivalentTo"} -xref: ICD10CM:G56.4 {source="Orphanet:83452", source="ORDO:83452/btnt"} -xref: ICD10CM:M89.0 {source="Orphanet:83452", source="MONDO:superClassOf", source="ORDO:83452/btnt"} -xref: MedDRA:10064332 {source="Orphanet:83452", source="ORDO:83452/e"} -xref: MESH:D020918 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="ORDO:83452/e"} -xref: OMIM:604335 {source="Orphanet:83452", source="GARD:0004647", source="MONDO:superClassOf", source="ORDO:83452/btnt"} +xref: ICD10CM:G56.4 {source="Orphanet:83452/btnt", source="Orphanet:83452"} +xref: ICD10CM:M89.0 {source="Orphanet:83452/btnt", source="Orphanet:83452", source="MONDO:superClassOf"} +xref: MedDRA:10064332 {source="Orphanet:83452", source="Orphanet:83452/e"} +xref: MESH:D020918 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="Orphanet:83452/e"} +xref: OMIM:604335 {source="Orphanet:83452/btnt", source="Orphanet:83452", source="GARD:0004647", source="MONDO:superClassOf"} xref: Orphanet:83452 {source="MONDO:equivalentTo", source="GARD:0004647"} xref: SCTID:128200000 {source="DOID:3223", source="MONDO:equivalentTo"} -xref: UMLS:C0458219 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="ORDO:83452/e"} +xref: UMLS:C0458219 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="Orphanet:83452/e"} is_a: MONDO:0024317 {source="MONDO:cjm"} ! chronic pain syndrome [Term] id: MONDO:0019370 name: vulvovaginal gingival syndrome subset: ordo_disease {source="Orphanet:83453"} -xref: ICD10CM:L43.8 {source="Orphanet:83453", source="ORDO:83453/ntbt"} +xref: ICD10CM:L43.8 {source="Orphanet:83453", source="Orphanet:83453/ntbt"} xref: Orphanet:83453 {source="MONDO:equivalentTo"} xref: SCTID:707250009 {source="MONDO:equivalentTo"} xref: UMLS:C3873472 {source="MONDO:equivalentTo"} @@ -372235,7 +372073,7 @@ name: narcolepsy without cataplexy def: "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [Orphanet:83465] subset: ordo_disease {source="Orphanet:83465"} xref: EFO:0005855 {source="MONDO:equivalentTo"} -xref: ICD10CM:G47.4 {source="Orphanet:83465", source="ORDO:83465/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:G47.4 {source="Orphanet:83465/ntbt", source="Orphanet:83465", source="MONDO:directSiblingOf"} xref: ICD10CM:G47.419 {source="MONDO:equivalentTo"} xref: ICD9:347.00 {source="MONDO:subClassOf", source="EFO:0005855"} xref: Orphanet:83465 {source="MONDO:equivalentTo"} @@ -372259,7 +372097,7 @@ synonym: "cyst of the bone" EXACT [NCIT:C2904] synonym: "simple bone cyst" EXACT [NCIT:C2904] synonym: "solitary cyst" EXACT [NCIT:C2904] synonym: "unicameral bone cyst" EXACT [Orphanet:83468] -xref: ICD10CM:M85.4 {source="ORDO:83468/e", source="MONDO:equivalentTo", source="Orphanet:83468"} +xref: ICD10CM:M85.4 {source="MONDO:equivalentTo", source="Orphanet:83468", source="Orphanet:83468/e"} xref: ICD9:733.21 {source="MONDO:equivalentTo", source="i2s"} xref: MESH:D001845 {source="MONDO:equivalentTo"} xref: NCIT:C2904 {source="MONDO:equivalentTo"} @@ -372287,16 +372125,16 @@ xref: DOID:6785 {source="EFO:1000895", source="MONDO:obsolete"} xref: EFO:1000895 {source="MONDO:equivalentTo"} xref: GARD:0006265 {source="MONDO:equivalentTo"} xref: HGNC:12796 {source="GARD:0006265"} -xref: ICD10CM:C48.2 {source="ORDO:83469/ntbt", source="Orphanet:83469"} +xref: ICD10CM:C48.2 {source="Orphanet:83469", source="Orphanet:83469/ntbt"} xref: ICDO:8806/3 {source="NCIT:C8300"} -xref: MedDRA:10064581 {source="ORDO:83469/e", source="Orphanet:83469"} +xref: MedDRA:10064581 {source="Orphanet:83469", source="Orphanet:83469/e"} xref: MedDRA:10064587 {source="EFO:1000895"} -xref: MESH:D058405 {source="ORDO:83469/e", source="MONDO:equivalentTo", source="EFO:1000895", source="Orphanet:83469"} +xref: MESH:D058405 {source="MONDO:equivalentTo", source="EFO:1000895", source="Orphanet:83469", source="Orphanet:83469/e"} xref: NCIT:C8300 {source="MONDO:equivalentTo", source="EFO:1000895"} xref: ONCOTREE:DSRCT {source="MONDO:equivalentTo"} xref: Orphanet:83469 {source="MONDO:equivalentTo"} xref: SCTID:128735004 {source="EFO:1000895"} -xref: UMLS:C0281508 {source="NCIT:C8300", source="ORDO:83469/e", source="MONDO:equivalentTo", source="Orphanet:83469"} +xref: UMLS:C0281508 {source="NCIT:C8300", source="MONDO:equivalentTo", source="Orphanet:83469", source="Orphanet:83469/e"} is_a: MONDO:0006974 {source="NCIT:C8300"} ! small cell sarcoma is_a: MONDO:0015683 {source="Orphanet:83469"} ! primary malignant peritoneal tumor is_a: MONDO:0018078 {source="NCIT:C8300", source="Orphanet:83469"} ! soft tissue sarcoma @@ -372314,8 +372152,8 @@ synonym: "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormali synonym: "SCAR5" EXACT ABBREVIATION [Orphanet:83472] synonym: "spinocerebellar ataxia autosomal recessive 5" RELATED [GARD:0009977] xref: GARD:0009977 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G11.1 {source="Orphanet:83472", source="ORDO:83472/attributed", source="ORDO:83472/ntbt"} -xref: OMIM:606937 {source="Orphanet:83472", source="MONDO:equivalentObsolete", source="ORDO:83472/e"} +xref: ICD10CM:G11.1 {source="Orphanet:83472", source="Orphanet:83472/attributed", source="Orphanet:83472/ntbt"} +xref: OMIM:606937 {source="Orphanet:83472", source="MONDO:equivalentObsolete", source="Orphanet:83472/e"} xref: Orphanet:83472 {source="MONDO:equivalentTo"} xref: SCTID:726031001 {source="MONDO:equivalentTo"} xref: UMLS:C1847114 {source="Orphanet:83472", source="MONDO:equivalentTo"} @@ -372333,10 +372171,10 @@ synonym: "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" REL synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341, OMIMPS:603387] synonym: "MPPH syndrome" EXACT [Orphanet:83473] xref: GARD:0010341 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q04.8 {source="Orphanet:83473", source="ORDO:83473/attributed", source="ORDO:83473/ntbt"} -xref: OMIM:603387 {source="Orphanet:83473", source="MONDO:superClassOf", source="ORDO:83473/btnt"} -xref: OMIM:615937 {source="Orphanet:83473", source="MONDO:superClassOf", source="ORDO:83473/btnt"} -xref: OMIM:615938 {source="Orphanet:83473", source="MONDO:superClassOf", source="ORDO:83473/btnt"} +xref: ICD10CM:Q04.8 {source="Orphanet:83473", source="Orphanet:83473/attributed", source="Orphanet:83473/ntbt"} +xref: OMIM:603387 {source="Orphanet:83473", source="Orphanet:83473/btnt", source="MONDO:superClassOf"} +xref: OMIM:615937 {source="Orphanet:83473", source="Orphanet:83473/btnt", source="MONDO:superClassOf"} +xref: OMIM:615938 {source="Orphanet:83473", source="Orphanet:83473/btnt", source="MONDO:superClassOf"} xref: OMIMPS:603387 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="MONDO:equivalentTo"} xref: SCTID:722036008 {source="MONDO:equivalentTo"} @@ -372360,11 +372198,11 @@ synonym: "West-Nile fever" EXACT [Orphanet:83476] xref: DOID:2365 {source="EFO:0007545", source="MONDO:equivalentTo"} xref: EFO:0007545 {source="MONDO:equivalentTo"} xref: GARD:0009959 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:A92.3 {source="Orphanet:83476", source="ORDO:83476/ntbt"} +xref: ICD10CM:A92.3 {source="Orphanet:83476/ntbt", source="Orphanet:83476"} xref: ICD10CM:A92.31 {source="DOID:2365"} xref: ICD9:066.41 {source="DOID:2365", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D014901 {source="DOID:2365", source="EFO:0007545", source="MONDO:directSiblingOf"} -xref: OMIM:610379 {source="Orphanet:83476", source="MONDO:superClassOf", source="ORDO:83476/btnt"} +xref: OMIM:610379 {source="Orphanet:83476/btnt", source="Orphanet:83476", source="MONDO:superClassOf"} xref: Orphanet:83476 {source="MONDO:equivalentTo"} xref: SCTID:392662004 {source="DOID:2365", source="MONDO:equivalentTo"} xref: UMLS:C0043124 {source="Orphanet:83476", source="MONDO:notFoundInDiseaseSubset"} @@ -372384,7 +372222,7 @@ def: "Mycoplasma encephalitis is a rare infectious encephalitis characterized by subset: ordo_disease {source="Orphanet:83482"} synonym: "Mycoplasma pneumoniae caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycoplasma pneumoniae infectious encephalitis" EXACT [] -xref: ICD10CM:B96.0 {source="ORDO:83482/ntbt", source="Orphanet:83482"} +xref: ICD10CM:B96.0 {source="Orphanet:83482/ntbt", source="Orphanet:83482"} xref: Orphanet:83482 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83482"} ! infectious encephalitis intersection_of: MONDO:0020067 ! infectious encephalitis @@ -372403,10 +372241,10 @@ synonym: "La Crosse virus infectious encephalitis" EXACT [] synonym: "Neuroinvasive California encephalitis virus infection" EXACT [DOID:0050118] xref: DOID:0050118 {source="MONDO:equivalentTo"} xref: GARD:0010925 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:A83.5 {source="Orphanet:83483", source="DOID:0050118", source="ORDO:83483/ntbt"} +xref: ICD10CM:A83.5 {source="Orphanet:83483", source="Orphanet:83483/ntbt", source="DOID:0050118"} xref: ICD9:062.5 {source="DOID:0050118"} -xref: MedDRA:10014584 {source="Orphanet:83483", source="ORDO:83483/e"} -xref: MESH:D004670 {source="Orphanet:83483", source="MONDO:equivalentTo", source="DOID:0050118", source="ORDO:83483/e"} +xref: MedDRA:10014584 {source="Orphanet:83483", source="Orphanet:83483/e"} +xref: MESH:D004670 {source="Orphanet:83483", source="MONDO:equivalentTo", source="Orphanet:83483/e", source="DOID:0050118"} xref: Orphanet:83483 {source="MONDO:equivalentTo"} xref: SCTID:186588007 {source="DOID:0050118"} xref: SCTID:266103004 {source="DOID:0050118"} @@ -372415,7 +372253,7 @@ xref: SCTID:417075004 {source="DOID:0050118"} xref: SCTID:418531007 {source="DOID:0050118"} xref: SCTID:61094002 {source="MONDO:equivalentTo"} xref: SCTID:69627004 {source="DOID:0050118"} -xref: UMLS:C0014053 {source="Orphanet:83483", source="MONDO:equivalentTo", source="DOID:0050118", source="ORDO:83483/e"} +xref: UMLS:C0014053 {source="Orphanet:83483", source="MONDO:equivalentTo", source="Orphanet:83483/e", source="DOID:0050118"} xref: UMLS:C0276379 {source="MONDO:equivalentTo"} is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83483"} ! viral encephalitis is_a: MONDO:0020067 {source="MESH:D004670/inferred", source="MONDO:Redundant", source="Orphanet:83483", source="indirect"} ! infectious encephalitis @@ -372443,9 +372281,9 @@ synonym: "Western equine encephalomyelitis" EXACT [Orphanet:83593] xref: DOID:10843 {source="EFO:0007546", source="MONDO:equivalentTo"} xref: EFO:0007546 {source="MONDO:equivalentTo"} xref: GARD:0007888 {source="MONDO:equivalentTo"} -xref: ICD10CM:A83.1 {source="Orphanet:83593", source="DOID:10843", source="MONDO:equivalentTo", source="ORDO:83593/ntbt"} +xref: ICD10CM:A83.1 {source="Orphanet:83593", source="DOID:10843", source="Orphanet:83593/ntbt", source="MONDO:equivalentTo"} xref: ICD9:062.1 {source="DOID:10843", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10014614 {source="Orphanet:83593", source="ORDO:83593/e"} +xref: MedDRA:10014614 {source="Orphanet:83593", source="Orphanet:83593/e"} xref: MESH:D020241 {source="DOID:10843", source="EFO:0007546", source="MONDO:equivalentTo"} xref: NCIT:C85227 {source="DOID:10843", source="MONDO:equivalentTo"} xref: Orphanet:83593 {source="MONDO:equivalentTo"} @@ -372485,7 +372323,7 @@ synonym: "ADEM" EXACT ABBREVIATION [DOID:639, ICD9:323.61, Orphanet:83597] xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"} xref: EFO:0007130 {source="MONDO:equivalentTo"} xref: GARD:0008639 {source="MONDO:equivalentTo"} -xref: ICD10CM:G04.0 {source="Orphanet:83597", source="ORDO:83597/ntbt"} +xref: ICD10CM:G04.0 {source="Orphanet:83597/ntbt", source="Orphanet:83597"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D004673 {source="DOID:639", source="MONDO:equivalentTo", source="EFO:0007130"} xref: NCIT:C34578 {source="DOID:639", source="MONDO:equivalentTo"} @@ -372512,16 +372350,16 @@ synonym: "von Economo's disease" EXACT [MONDO:0003338] synonym: "Von Economo’s disease" RELATED [GARD:0006332] xref: DOID:5225 {source="MONDO:equivalentTo"} xref: GARD:0006332 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:A85.8 {source="DOID:5225", source="ORDO:83600/ntbt", source="Orphanet:83600"} +xref: ICD10CM:A85.8 {source="DOID:5225", source="Orphanet:83600", source="Orphanet:83600/ntbt"} xref: ICD9:049.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10052369 {source="ORDO:83600/e", source="Orphanet:83600"} +xref: MedDRA:10052369 {source="Orphanet:83600", source="Orphanet:83600/e"} xref: NCIT:C26761 {source="DOID:5225", source="MONDO:equivalentTo"} xref: NCIT:C34576 {source="MONDO:equivalentTo"} xref: Orphanet:83600 {source="MONDO:equivalentTo"} xref: SCTID:186499007 {source="DOID:5225", source="MONDO:equivalentTo"} xref: SCTID:186500003 {source="DOID:5225"} xref: SCTID:20411005 {source="DOID:5225"} -xref: UMLS:C0014040 {source="DOID:5225", source="NCIT:C26761", source="ORDO:83600/e", source="MONDO:equivalentTo", source="Orphanet:83600"} +xref: UMLS:C0014040 {source="DOID:5225", source="NCIT:C26761", source="MONDO:equivalentTo", source="Orphanet:83600", source="Orphanet:83600/e"} xref: UMLS:C0014055 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C34576"} is_a: MONDO:0006009 {source="NCIT:C26761", source="NCIT:C34576", source="linkedlifedata"} ! viral encephalitis is_a: MONDO:0019956 {source="DOID:5225", source="MONDO:Redundant", source="NCIT:C26761/inferred", source="Orphanet:83600/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! encephalitis @@ -372540,7 +372378,7 @@ synonym: "Hashimoto's encephalopathy" RELATED [GARD:0008570] synonym: "SREAT" EXACT ABBREVIATION [Orphanet:83601] synonym: "steroid-responsive encephalopathy associated with thyroid disease" BROAD [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html] xref: GARD:0008570 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G04.8 {source="ORDO:83601/ntbt", source="Orphanet:83601"} +xref: ICD10CM:G04.8 {source="Orphanet:83601", source="Orphanet:83601/ntbt"} xref: MESH:C535841 {source="MONDO:equivalentTo"} xref: Orphanet:83601 {source="MONDO:equivalentTo"} xref: UMLS:C0393639 {source="MONDO:equivalentTo", source="Orphanet:83601"} @@ -372558,8 +372396,8 @@ name: progressive rubella panencephalitis def: "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." [Wikipedia:Progressive_rubella_panencephalitis] subset: ordo_disease {source="Orphanet:83616"} synonym: "rubella panencephalitis" RELATED [] -xref: ICD10EXP:B06.0+ {source="ORDO:83616/ntbt", source="Orphanet:83616"} -xref: ICD10EXP:G05.1* {source="ORDO:83616/ntbt", source="Orphanet:83616"} +xref: ICD10EXP:B06.0+ {source="Orphanet:83616/ntbt", source="Orphanet:83616"} +xref: ICD10EXP:G05.1* {source="Orphanet:83616/ntbt", source="Orphanet:83616"} xref: Orphanet:83616 {source="MONDO:equivalentTo"} xref: SCTID:10082001 {source="MONDO:equivalentTo"} xref: UMLS:C1305924 {source="MONDO:equivalentTo"} @@ -372576,7 +372414,7 @@ id: MONDO:0019387 name: macrostomia-preauricular tags-external ophthalmoplegia syndrome def: "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." [Orphanet:83619] subset: ordo_malformation_syndrome {source="Orphanet:83619"} -xref: ICD10CM:Q87.0 {source="ORDO:83619/attributed", source="ORDO:83619/ntbt", source="Orphanet:83619"} +xref: ICD10CM:Q87.0 {source="Orphanet:83619/attributed", source="Orphanet:83619/ntbt", source="Orphanet:83619"} xref: Orphanet:83619 {source="MONDO:equivalentTo"} xref: UMLS:CN206081 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:83619", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -372593,7 +372431,7 @@ synonym: "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities synonym: "lumbar syndrome" RELATED [Orphanet:83628] synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [Orphanet:83628] synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628] -xref: ICD10CM:Q87.8 {source="ORDO:83628/attributed", source="ORDO:83628/ntbt", source="Orphanet:83628"} +xref: ICD10CM:Q87.8 {source="Orphanet:83628/attributed", source="Orphanet:83628/ntbt", source="Orphanet:83628"} xref: Orphanet:83628 {source="MONDO:equivalentTo"} xref: SCTID:725138002 {source="MONDO:equivalentTo"} xref: UMLS:C4510867 {source="MONDO:equivalentTo"} @@ -372608,7 +372446,7 @@ relationship: has_modifier MONDO:0021136 ! rare id: MONDO:0019389 name: obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome comment: Obsoleted in Orphanet -xref: ICD10CM:Q87.0 {source="ORDO:83648/attributed", source="ORDO:83648/ntbt", source="Orphanet:83648"} +xref: ICD10CM:Q87.0 {source="Orphanet:83648", source="Orphanet:83648/attributed", source="Orphanet:83648/ntbt"} xref: Orphanet:83648 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227624 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2131 xsd:anyURI @@ -372628,14 +372466,14 @@ synonym: "SICRET syndrome" EXACT [Orphanet:838] synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [Orphanet:838] xref: EFO:1001856 {source="MONDO:equivalentTo"} xref: GARD:0007713 {source="MONDO:equivalentTo"} -xref: ICD10CM:I67.7 {source="ORDO:838/ntbt", source="Orphanet:838"} +xref: ICD10CM:I67.7 {source="Orphanet:838", source="Orphanet:838/ntbt"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071573 {source="ORDO:838/e", source="Orphanet:838"} -xref: MESH:D055955 {source="MONDO:equivalentTo", source="ORDO:838/e", source="Orphanet:838"} +xref: MedDRA:10071573 {source="Orphanet:838", source="Orphanet:838/e"} +xref: MESH:D055955 {source="MONDO:equivalentTo", source="Orphanet:838", source="Orphanet:838/e"} xref: NCIT:C116363 {source="MONDO:equivalentTo"} xref: Orphanet:838 {source="MONDO:equivalentTo"} xref: SCTID:702575003 {source="MONDO:equivalentTo"} -xref: UMLS:C2717757 {source="NCIT:C116363", source="MONDO:equivalentTo", source="ORDO:838/e", source="Orphanet:838"} +xref: UMLS:C2717757 {source="NCIT:C116363", source="MONDO:equivalentTo", source="Orphanet:838", source="Orphanet:838/e"} is_a: MONDO:0002254 {source="NCIT:C116363"} ! syndromic disease is_a: MONDO:0007179 {source="EFO:1001856", source="MONDO:Redundant", source="NCIT:C116363", source="indirect", source="linkedlifedata"} ! autoimmune disease is_a: MONDO:0020676 {source="Orphanet:838"} ! disorder of central nervous system or retinal vasculature @@ -372657,31 +372495,31 @@ synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505] synonym: "primary erythroid hypoplasia" EXACT [NCIT:C62505] xref: DOID:13636 {source="MONDO:equivalentTo"} xref: GARD:0006425 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="ORDO:84/inclusion", source="ORDO:84/ntbt", source="Orphanet:84"} +xref: ICD10CM:D61.0 {source="MONDO:subClassOf", source="Orphanet:84/ntbt", source="Orphanet:84/inclusion", source="Orphanet:84"} xref: ICD10CM:D61.09 {source="DOID:13636"} xref: ICD9:284.09 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10055206 {source="ORDO:84/e", source="Orphanet:84"} -xref: MESH:D005199 {source="DOID:13636", source="MONDO:equivalentTo", source="ORDO:84/e", source="Orphanet:84"} +xref: MedDRA:10055206 {source="Orphanet:84/e", source="Orphanet:84"} +xref: MESH:D005199 {source="DOID:13636", source="Orphanet:84/e", source="MONDO:equivalentTo", source="Orphanet:84"} xref: NCIT:C62505 {source="DOID:13636", source="MONDO:equivalentTo"} -xref: OMIM:227645 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:227646 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:227650 {source="MONDO:superClassOf", source="ORDO:84/e"} -xref: OMIM:300514 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:600901 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:603467 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:609053 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:609054 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:610832 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:613390 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:613951 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:614082 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:614083 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:615272 {source="MONDO:superClassOf", source="ORDO:84/btnt"} -xref: OMIM:616435 {source="MONDO:superClassOf", source="ORDO:84/btnt"} +xref: OMIM:227645 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:227646 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:227650 {source="Orphanet:84/e", source="MONDO:superClassOf"} +xref: OMIM:300514 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:600901 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:603467 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:609053 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:609054 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:610832 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:613390 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:613951 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:614082 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:614083 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:615272 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} +xref: OMIM:616435 {source="Orphanet:84/btnt", source="MONDO:superClassOf"} xref: OMIMPS:227650 {source="DOID:13636", source="MONDO:equivalentTo"} xref: Orphanet:84 {source="DOID:13636", source="MONDO:equivalentTo"} xref: SCTID:30575002 {source="DOID:13636", source="MONDO:equivalentTo"} -xref: UMLS:C0015625 {source="DOID:13636", source="NCIT:C62505", source="MONDO:equivalentTo", source="ORDO:84/e", source="Orphanet:84"} +xref: UMLS:C0015625 {source="DOID:13636", source="NCIT:C62505", source="Orphanet:84/e", source="MONDO:equivalentTo", source="Orphanet:84"} is_a: MONDO:0001713 {source="DOID:13636", source="MESH:D005199", source="Orphanet:84", source="linkedlifedata"} ! inherited aplastic anemia is_a: MONDO:0003225 {source="PMID:31953710"} ! bone marrow disorder is_a: MONDO:0005240 ! kidney disorder @@ -372716,14 +372554,14 @@ synonym: "syringocystadenoma papilliferum" EXACT [MONDO:0006439, NCIT:C4172] xref: DOID:5445 {source="MONDO:equivalentTo"} xref: EFO:1000558 {source="MONDO:equivalentTo"} xref: GARD:0005100 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D23.9 {source="Orphanet:840", source="ORDO:840/ntbt"} +xref: ICD10CM:D23.9 {source="Orphanet:840", source="Orphanet:840/ntbt"} xref: ICDO:8406/0 {source="NCIT:C4172"} -xref: MedDRA:10042926 {source="Orphanet:840", source="ORDO:840/e"} +xref: MedDRA:10042926 {source="Orphanet:840", source="Orphanet:840/e"} xref: NCIT:C4172 {source="DOID:5445", source="MONDO:equivalentTo", source="EFO:1000558"} xref: Orphanet:840 {source="MONDO:equivalentTo"} xref: SCTID:239121009 {source="DOID:5445", source="MONDO:equivalentTo"} xref: SCTID:8934006 {source="DOID:5445"} -xref: UMLS:C0406803 {source="NCIT:C4172", source="Orphanet:840", source="DOID:5445", source="MONDO:equivalentTo", source="ORDO:840/e"} +xref: UMLS:C0406803 {source="NCIT:C4172", source="Orphanet:840", source="DOID:5445", source="MONDO:equivalentTo", source="Orphanet:840/e"} is_a: MONDO:0004972 {source="EFO:1000558", source="MONDO:Redundant", source="NCIT:C4172/inferred"} ! adenoma is_a: MONDO:0021110 {source="NCIT:C4172"} ! sweat gland adenoma relationship: excluded_subClassOf MONDO:0003686 {source="DOID:5445"} ! apocrine sweat gland neoplasm @@ -372735,7 +372573,7 @@ name: idiopathic malabsorption due to bile acid synthesis defects def: "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." [Orphanet:84065] subset: ordo_disease {source="Orphanet:84065"} synonym: "idiopathic bile acid malabsorption" EXACT [Orphanet:84065] -xref: ICD10CM:K90.8 {source="ORDO:84065/ntbt", source="Orphanet:84065"} +xref: ICD10CM:K90.8 {source="Orphanet:84065/ntbt", source="Orphanet:84065"} xref: Orphanet:84065 {source="MONDO:equivalentTo"} is_a: MONDO:0015180 {source="Orphanet:84065"} ! intestinal disease due to fat malabsorption is_a: MONDO:0019218 {source="Orphanet:84065"} ! inborn disorder of bile acid synthesis @@ -372748,8 +372586,8 @@ def: "Boichis syndrome consists of the association of congenital nephronophthisi subset: ordo_disease {source="Orphanet:84081"} synonym: "Boichis disease" EXACT [Orphanet:84081] synonym: "nephronophthisis-hepatic fibrosis syndrome" EXACT [Orphanet:84081] -xref: OMIM:613550 {source="ORDO:84081/btnt", source="MONDO:superClassOf", source="Orphanet:84081"} -xref: OMIM:616217 {source="ORDO:84081/btnt", source="MONDO:superClassOf", source="Orphanet:84081"} +xref: OMIM:613550 {source="MONDO:superClassOf", source="Orphanet:84081", source="Orphanet:84081/btnt"} +xref: OMIM:616217 {source="MONDO:superClassOf", source="Orphanet:84081", source="Orphanet:84081/btnt"} xref: Orphanet:84081 {source="MONDO:equivalentTo"} xref: SCTID:717187000 {source="MONDO:equivalentTo"} xref: UMLS:CN206093 {source="MONDO:equivalentTo"} @@ -372766,7 +372604,7 @@ synonym: "Hinman-Allen syndrome" EXACT [Orphanet:84085] synonym: "HS" EXACT ABBREVIATION [Orphanet:84085] synonym: "non-neurogenic neurogenic bladder" EXACT [Orphanet:84085] synonym: "occult neuropathic bladder" EXACT [Orphanet:84085] -xref: ICD10CM:N32.8 {source="ORDO:84085/ntbt", source="Orphanet:84085"} +xref: ICD10CM:N32.8 {source="Orphanet:84085/ntbt", source="Orphanet:84085"} xref: ICD9:596.59 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:84085 {source="MONDO:equivalentTo"} xref: SCTID:429233001 {source="MONDO:equivalentTo"} @@ -372781,7 +372619,7 @@ name: collagen type III glomerulopathy def: "Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." [Orphanet:84087] subset: ordo_disease {source="Orphanet:84087"} synonym: "Collagenofibrotic glomerulopathy" EXACT [Orphanet:84087] -xref: ICD10CM:N07.6 {source="ORDO:84087/ntbt", source="Orphanet:84087"} +xref: ICD10CM:N07.6 {source="Orphanet:84087/ntbt", source="Orphanet:84087"} xref: ICD9:583.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:84087 {source="MONDO:equivalentTo"} xref: SCTID:708127008 {source="MONDO:equivalentTo"} @@ -372793,7 +372631,7 @@ is_a: MONDO:0019724 {source="Orphanet:84087"} ! secondary glomerular disease id: MONDO:0019397 name: unknown leukodystrophy subset: ordo_disease {source="Orphanet:84096"} -xref: ICD10CM:E75.2 {source="ORDO:84096/attributed", source="ORDO:84096/ntbt", source="Orphanet:84096"} +xref: ICD10CM:E75.2 {source="Orphanet:84096/attributed", source="Orphanet:84096/ntbt", source="Orphanet:84096"} xref: Orphanet:84096 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:84096"} ! leukodystrophy @@ -372802,8 +372640,8 @@ id: MONDO:0019398 name: desmin-related myopathy with Mallory body-like inclusions subset: ordo_disease {source="Orphanet:84132"} synonym: "early-onset desmin-related myopathy" EXACT [Orphanet:84132] -xref: ICD10CM:G71.8 {source="Orphanet:84132", source="ORDO:84132/attributed", source="ORDO:84132/ntbt"} -xref: OMIM:602771 {source="MONDO:subClassOf", source="Orphanet:84132", source="ORDO:84132/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:84132", source="Orphanet:84132/attributed", source="Orphanet:84132/ntbt"} +xref: OMIM:602771 {source="MONDO:subClassOf", source="Orphanet:84132", source="Orphanet:84132/ntbt"} xref: Orphanet:84132 {source="MONDO:equivalentTo"} is_a: MONDO:0011271 ! rigid spine muscular dystrophy 1 is_a: MONDO:0016112 {source="Orphanet:84132"} ! inclusion myopathy @@ -372824,7 +372662,7 @@ synonym: "neuromyotonia" RELATED [GARD:0006793] synonym: "peripheral nerve hyperexcitability" EXACT [Orphanet:84142] synonym: "Quantal squander syndrome" EXACT [Orphanet:84142] xref: GARD:0006793 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.1 {source="ORDO:84142/ntbt", source="Orphanet:84142"} +xref: ICD10CM:G71.1 {source="Orphanet:84142/ntbt", source="Orphanet:84142"} xref: Orphanet:84142 {source="MONDO:equivalentTo"} xref: SCTID:305719002 {source="MONDO:equivalentTo"} xref: UMLS:C0242287 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:84142"} @@ -372845,10 +372683,10 @@ name: sporadic idiopathic steroid-resistant nephrotic syndrome def: "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema." [Orphanet:84271] subset: ordo_clinical_syndrome {source="Orphanet:84271"} synonym: "sporadic idiopathic nephrosis" EXACT [Orphanet:84271] -xref: ICD10CM:N04.1 {source="ORDO:84271/attributed", source="ORDO:84271/btnt", source="Orphanet:84271"} -xref: ICD10CM:N04.3 {source="ORDO:84271/attributed", source="ORDO:84271/btnt", source="Orphanet:84271"} -xref: ICD10CM:N04.8 {source="ORDO:84271/attributed", source="ORDO:84271/btnt", source="Orphanet:84271"} -xref: OMIM:612551 {source="ORDO:84271/btnt", source="MONDO:superClassOf", source="Orphanet:84271"} +xref: ICD10CM:N04.1 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"} +xref: ICD10CM:N04.3 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"} +xref: ICD10CM:N04.8 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"} +xref: OMIM:612551 {source="MONDO:superClassOf", source="Orphanet:84271/btnt", source="Orphanet:84271"} xref: Orphanet:84271 {source="MONDO:equivalentTo"} xref: SCTID:717191005 {source="MONDO:equivalentTo"} xref: UMLS:C4274017 {source="MONDO:equivalentTo"} @@ -372868,20 +372706,20 @@ synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871] synonym: "Thalassemias, beta-" RELATED [GARD:0000871] xref: DOID:12241 {source="MONDO:equivalentTo"} xref: GARD:0000871 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D56.1 {source="ORDO:848/specific", source="ORDO:848/e", source="DOID:12241", source="Orphanet:848"} +xref: ICD10CM:D56.1 {source="Orphanet:848/specific", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"} xref: ICD9:282.44 {source="DOID:12241"} xref: ICD9:282.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10043391 {source="ORDO:848/e", source="Orphanet:848"} -xref: MESH:D017086 {source="ORDO:848/e", source="MONDO:equivalentTo", source="DOID:12241", source="Orphanet:848"} +xref: MedDRA:10043391 {source="Orphanet:848", source="Orphanet:848/e"} +xref: MESH:D017086 {source="MONDO:equivalentTo", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"} xref: NCIT:C34375 {source="MONDO:equivalentTo", source="DOID:12241"} xref: OMIM:187550 {source="MONDO:superClassOf", source="DOID:12241"} -xref: OMIM:603902 {source="MONDO:superClassOf", source="ORDO:848/btnt", source="DOID:12241", source="Orphanet:848"} -xref: OMIM:613985 {source="MONDO:superClassOf", source="ORDO:848/btnt", source="DOID:12241", source="Orphanet:848"} +xref: OMIM:603902 {source="MONDO:superClassOf", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/btnt"} +xref: OMIM:613985 {source="MONDO:superClassOf", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/btnt"} xref: Orphanet:848 {source="MONDO:equivalentTo", source="DOID:12241"} xref: SCTID:191190000 {source="DOID:12241"} xref: SCTID:65959000 {source="MONDO:equivalentTo", source="DOID:12241"} xref: UMLS:C0002875 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C34375"} -xref: UMLS:C0005283 {source="ORDO:848/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:12241", source="Orphanet:848"} +xref: UMLS:C0005283 {source="MONDO:notFoundInDiseaseSubset", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"} is_a: MONDO:0000984 {source="DOID:12241", source="MESH:D017086", source="NCIT:C34375", source="Orphanet:848/inferred", source="linkedlifedata"} ! thalassemia is_a: MONDO:0005240 ! kidney disorder is_a: MONDO:0005570 ! hematologic disorder @@ -372901,9 +372739,9 @@ synonym: "congenital dyshaematopoietic anaemia" EXACT [DOID:1338] synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999] xref: DOID:1338 {source="MONDO:equivalentTo"} xref: GARD:0001999 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D64.4 {source="MONDO:equivalentTo", source="ORDO:85/specific", source="DOID:1338", source="Orphanet:85", source="ORDO:85/e"} +xref: ICD10CM:D64.4 {source="Orphanet:85/specific", source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D000742 {source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85", source="ORDO:85/e"} +xref: MESH:D000742 {source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} xref: NCIT:C84646 {source="MONDO:equivalentTo", source="DOID:1338"} xref: OMIM:105600 {source="MONDO:superClassOf", source="DOID:1338"} xref: OMIM:224100 {source="MONDO:superClassOf", source="DOID:1338"} @@ -372914,7 +372752,7 @@ xref: OMIMPS:224120 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:85 {source="MONDO:equivalentTo", source="DOID:1338"} xref: SCTID:191272005 {source="DOID:1338"} xref: SCTID:52951008 {source="MONDO:equivalentTo", source="DOID:1338"} -xref: UMLS:C0002876 {source="NCIT:C84646", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85", source="ORDO:85/e"} +xref: UMLS:C0002876 {source="NCIT:C84646", source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"} is_a: MONDO:0003664 {source="MONDO:Redundant", source="indirect"} ! hemolytic anemia is_a: MONDO:0003689 {source="DOID:1338", source="MESH:D000742"} ! familial hemolytic anemia is_a: MONDO:0017397 {source="Orphanet:85"} ! constitutional dyserythropoietic anemia @@ -372932,7 +372770,7 @@ synonym: "perineurioma" EXACT [NCIT:C4973] synonym: "soft tissue perineurioma" EXACT [DOID:4697, NCIT:C6912] xref: DOID:4697 {source="MONDO:equivalentTo"} xref: GARD:0012698 {source="MONDO:equivalentTo"} -xref: ICD10CM:C47.9 {source="Orphanet:85102", source="ORDO:85102/ntbt"} +xref: ICD10CM:C47.9 {source="Orphanet:85102/ntbt", source="Orphanet:85102"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9571/0 {source="NCIT:C4973"} xref: MESH:D018317 {source="MONDO:subClassOf", source="DOID:4697"} @@ -372941,7 +372779,7 @@ xref: NCIT:C6912 {source="DOID:4697"} xref: Orphanet:85102 {source="MONDO:equivalentTo"} xref: SCTID:128795001 {source="DOID:4697"} xref: SCTID:404036006 {source="DOID:4697", source="MONDO:equivalentTo"} -xref: UMLS:C0751691 {source="DOID:4697", source="Orphanet:85102", source="MONDO:equivalentTo", source="NCIT:C4973", source="ORDO:85102/e"} +xref: UMLS:C0751691 {source="DOID:4697", source="Orphanet:85102", source="MONDO:equivalentTo", source="NCIT:C4973", source="Orphanet:85102/e"} xref: UMLS:C1370657 {source="DOID:4697", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002547 {source="DOID:4697", source="NCIT:C4973"} ! nerve sheath neoplasm is_a: MONDO:0016749 {source="Orphanet:85102"} ! tumor of cranial and spinal nerves @@ -372957,7 +372795,7 @@ synonym: "facial onset sensorimotor neuronopathy syndrome" RELATED [GARD:0012036 synonym: "facial onset sensory and motor neuronopathy syndrome" RELATED [GARD:0012036] synonym: "FOSMN syndrome" EXACT [Orphanet:85162] xref: GARD:0012036 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="ORDO:85162/attributed", source="ORDO:85162/ntbt", source="Orphanet:85162"} +xref: ICD10CM:G60.0 {source="Orphanet:85162/attributed", source="Orphanet:85162/ntbt", source="Orphanet:85162"} xref: Orphanet:85162 {source="MONDO:equivalentTo"} xref: SCTID:723306004 {source="MONDO:equivalentTo"} xref: UMLS:CN206118 {source="MONDO:equivalentTo"} @@ -372969,7 +372807,7 @@ id: MONDO:0019406 name: craniofacial conodysplasia def: "Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." [Orphanet:85168] subset: ordo_malformation_syndrome {source="Orphanet:85168"} -xref: ICD10CM:Q87.5 {source="Orphanet:85168", source="ORDO:85168/attributed", source="ORDO:85168/ntbt"} +xref: ICD10CM:Q87.5 {source="Orphanet:85168/attributed", source="Orphanet:85168/ntbt", source="Orphanet:85168"} xref: Orphanet:85168 {source="MONDO:equivalentTo"} is_a: MONDO:0019695 {source="Orphanet:85168"} ! acromelic dysplasia @@ -372983,7 +372821,7 @@ synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID synonym: "Saul-Wilson syndrome" EXACT [MONDO:0029146, OMIM:618150] synonym: "SWILS" EXACT ABBREVIATION [DOID:0111673, OMIM:618150] xref: DOID:0111673 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q78.8 {source="ORDO:85172/attributed", source="ORDO:85172/ntbt", source="Orphanet:85172"} +xref: ICD10CM:Q78.8 {source="Orphanet:85172", source="Orphanet:85172/attributed", source="Orphanet:85172/ntbt"} xref: OMIM:618150 {source="MONDO:equivalentTo", source="DOID:0111673"} xref: Orphanet:85172 {source="MONDO:equivalentTo", source="DOID:0111673"} xref: UMLS:C1300285 {source="DOID:0111673"} @@ -372999,7 +372837,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:85175"} synonym: "Astley-Kendall syndrome" RELATED [GARD:0009220] synonym: "short limbed dwarfism with extensive stippling" RELATED [GARD:0009220] xref: GARD:0009220 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="ORDO:85175/attributed", source="ORDO:85175/ntbt", source="Orphanet:85175"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:85175/attributed", source="Orphanet:85175/ntbt", source="Orphanet:85175"} xref: MESH:C535392 {source="MONDO:equivalentTo"} xref: Orphanet:85175 {source="MONDO:equivalentTo"} xref: SCTID:389263004 {source="MONDO:equivalentTo"} @@ -373022,8 +372860,8 @@ xref: GARD:0006760 {source="MONDO:equivalentTo", source="Orphanet-shared", sourc xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="i2s"} xref: MESH:C537700 {source="MONDO:equivalentTo"} xref: NCIT:C119996 {source="MONDO:equivalentTo"} -xref: OMIM:259750 {source="DOID:12559", source="ORDO:85193/btnt", source="MONDO:equivalentTo", source="Orphanet:85193"} -xref: OMIM:615221 {source="MONDO:relatedTo", source="ORDO:85193/btnt", source="Orphanet:85193"} +xref: OMIM:259750 {source="DOID:12559", source="MONDO:equivalentTo", source="Orphanet:85193/btnt", source="Orphanet:85193"} +xref: OMIM:615221 {source="MONDO:relatedTo", source="Orphanet:85193/btnt", source="Orphanet:85193"} xref: Orphanet:85193 {source="OMIM:259750", source="MONDO:equivalentTo"} xref: SCTID:3345002 {source="DOID:12559", source="MONDO:equivalentTo"} xref: UMLS:C0158447 {source="DOID:12559", source="MONDO:notFoundInDiseaseSubset"} @@ -373044,9 +372882,9 @@ comment: Obsolete in Orphanet subset: ordo_clinical_subtype {source="Orphanet:85196"} synonym: "multicentric osteolysis-nodulosis-arthropathy syndrome" EXACT [Orphanet:85196] synonym: "NAO syndrome" EXACT [Orphanet:85196] -xref: ICD10CM:M89.5 {source="ORDO:85196/attributed", source="ORDO:85196/ntbt", source="Orphanet:85196"} -xref: OMIM:259600 {source="ORDO:85196/btnt", source="MONDO:superClassOf", source="Orphanet:85196"} -xref: OMIM:277950 {source="ORDO:85196/btnt", source="MONDO:superClassOf", source="Orphanet:85196"} +xref: ICD10CM:M89.5 {source="Orphanet:85196/attributed", source="Orphanet:85196/ntbt", source="Orphanet:85196"} +xref: OMIM:259600 {source="MONDO:superClassOf", source="Orphanet:85196/btnt", source="Orphanet:85196"} +xref: OMIM:277950 {source="MONDO:superClassOf", source="Orphanet:85196/btnt", source="Orphanet:85196"} xref: Orphanet:85196 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1850155 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85196"} xref: UMLS:CN206138 {source="MONDO:obsoleteEquivalent"} @@ -373058,10 +372896,10 @@ id: MONDO:0019411 name: genochondromatosis type 1 def: "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." [Orphanet:85197] subset: ordo_disease {source="Orphanet:85197"} -xref: ICD10CM:Q78.4 {source="ORDO:85197/attributed", source="ORDO:85197/ntbt", source="Orphanet:85197"} -xref: OMIM:137360 {source="MONDO:subClassOf", source="ORDO:85197/ntbt", source="Orphanet:85197"} +xref: ICD10CM:Q78.4 {source="Orphanet:85197/attributed", source="Orphanet:85197/ntbt", source="Orphanet:85197"} +xref: OMIM:137360 {source="MONDO:subClassOf", source="Orphanet:85197/ntbt", source="Orphanet:85197"} xref: Orphanet:85197 {source="MONDO:equivalentTo"} -xref: UMLS:C1300229 {source="MONDO:subClassOf", source="ORDO:85197/e", source="Orphanet:85197"} +xref: UMLS:C1300229 {source="MONDO:subClassOf", source="Orphanet:85197/e", source="Orphanet:85197"} is_a: MONDO:0007653 ! genochondromatosis relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:85197"} ! obsolete primary bone dysplasia with disorganized development of skeletal components property_value: confidence "1.7906976744186043" xsd:double @@ -373071,7 +372909,7 @@ id: MONDO:0019412 name: dysspondyloenchondromatosis def: "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." [Orphanet:85198] subset: ordo_malformation_syndrome {source="Orphanet:85198"} -xref: ICD10CM:Q78.4 {source="ORDO:85198/attributed", source="ORDO:85198/ntbt", source="Orphanet:85198"} +xref: ICD10CM:Q78.4 {source="Orphanet:85198/attributed", source="Orphanet:85198/ntbt", source="Orphanet:85198"} xref: Orphanet:85198 {source="MONDO:equivalentTo"} xref: SCTID:722434004 {source="MONDO:equivalentTo"} xref: UMLS:C4302548 {source="MONDO:equivalentTo"} @@ -373085,7 +372923,7 @@ def: "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease char subset: ordo_malformation_syndrome {source="Orphanet:85200"} synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200] synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200] -xref: ICD10CM:Q77.8 {source="Orphanet:85200", source="ORDO:85200/attributed", source="ORDO:85200/ntbt"} +xref: ICD10CM:Q77.8 {source="Orphanet:85200", source="Orphanet:85200/attributed", source="Orphanet:85200/ntbt"} xref: Orphanet:85200 {source="MONDO:equivalentTo"} xref: SCTID:715654001 {source="MONDO:equivalentTo"} xref: UMLS:C4274732 {source="MONDO:equivalentTo"} @@ -373098,9 +372936,9 @@ name: BRESEK syndrome def: "X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." [Orphanet:85284] subset: ordo_malformation_syndrome {source="Orphanet:85284"} synonym: "BRESHECK syndrome" EXACT [Orphanet:85284] -xref: ICD10CM:Q87.8 {source="ORDO:85284/attributed", source="ORDO:85284/ntbt", source="Orphanet:85284"} +xref: ICD10CM:Q87.8 {source="Orphanet:85284/attributed", source="Orphanet:85284/ntbt", source="Orphanet:85284"} xref: MESH:C564519 {source="MONDO:equivalentTo"} -xref: OMIM:308205 {source="MONDO:subClassOf", source="ORDO:85284/ntbt", source="Orphanet:85284"} +xref: OMIM:308205 {source="MONDO:subClassOf", source="Orphanet:85284/ntbt", source="Orphanet:85284"} xref: Orphanet:85284 {source="MONDO:equivalentTo"} xref: SCTID:717945001 {source="MONDO:equivalentTo"} xref: UMLS:C3502469 {source="MONDO:equivalentTo", source="Orphanet:85284"} @@ -373117,7 +372955,7 @@ subset: gard_rare {source="GARD:0002295"} subset: ordo_disease {source="Orphanet:853"} synonym: "NAIT" EXACT ABBREVIATION [Orphanet:853] xref: GARD:0002295 {source="MONDO:equivalentTo"} -xref: ICD10CM:P61.0 {source="MONDO:relatedTo", source="Orphanet:853", source="ORDO:853/ntbt"} +xref: ICD10CM:P61.0 {source="Orphanet:853/ntbt", source="MONDO:relatedTo", source="Orphanet:853"} xref: Orphanet:853 {source="MONDO:equivalentTo"} xref: SCTID:240305000 {source="MONDO:equivalentTo"} xref: UMLS:C3853779 {source="Orphanet:853", source="MONDO:notFoundInDiseaseSubset"} @@ -373130,7 +372968,7 @@ id: MONDO:0019416 name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome def: "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." [Orphanet:85317] subset: ordo_malformation_syndrome {source="Orphanet:85317"} -xref: ICD10CM:Q87.8 {source="ORDO:85317/attributed", source="ORDO:85317/ntbt", source="Orphanet:85317"} +xref: ICD10CM:Q87.8 {source="Orphanet:85317", source="Orphanet:85317/attributed", source="Orphanet:85317/ntbt"} xref: Orphanet:85317 {source="MONDO:equivalentTo"} xref: UMLS:CN206172 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:85317"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -373141,7 +372979,7 @@ id: MONDO:0019417 name: X-linked intellectual disability-precocious puberty-obesity syndrome def: "X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." [Orphanet:85318] subset: ordo_malformation_syndrome {source="Orphanet:85318"} -xref: ICD10CM:Q87.8 {source="ORDO:85318/attributed", source="ORDO:85318/ntbt", source="Orphanet:85318"} +xref: ICD10CM:Q87.8 {source="Orphanet:85318", source="Orphanet:85318/attributed", source="Orphanet:85318/ntbt"} xref: Orphanet:85318 {source="MONDO:equivalentTo"} xref: UMLS:CN227629 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85318"} ! X-linked syndromic intellectual disability @@ -373151,7 +372989,7 @@ id: MONDO:0019418 name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome def: "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." [Orphanet:85319] subset: ordo_malformation_syndrome {source="Orphanet:85319"} -xref: ICD10CM:Q87.8 {source="ORDO:85319/attributed", source="ORDO:85319/ntbt", source="Orphanet:85319"} +xref: ICD10CM:Q87.8 {source="Orphanet:85319/attributed", source="Orphanet:85319/ntbt", source="Orphanet:85319"} xref: Orphanet:85319 {source="MONDO:equivalentTo"} xref: UMLS:CN206173 {source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:85319"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -373163,7 +373001,7 @@ name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome def: "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome." [Orphanet:85320] subset: ordo_malformation_syndrome {source="Orphanet:85320"} synonym: "Johnson syndrome" EXACT [Orphanet:85320] -xref: ICD10CM:Q87.8 {source="Orphanet:85320", source="ORDO:85320/attributed", source="ORDO:85320/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85320", source="Orphanet:85320/attributed", source="Orphanet:85320/ntbt"} xref: Orphanet:85320 {source="MONDO:equivalentTo"} xref: SCTID:719825000 {source="MONDO:equivalentTo"} xref: UMLS:CN206174 {source="MONDO:equivalentTo"} @@ -373174,7 +373012,7 @@ id: MONDO:0019420 name: X-linked intellectual disability, Pai type def: "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome." [Orphanet:85322] subset: ordo_malformation_syndrome {source="Orphanet:85322"} -xref: ICD10CM:Q87.8 {source="Orphanet:85322", source="ORDO:85322/attributed", source="ORDO:85322/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85322/attributed", source="Orphanet:85322/ntbt", source="Orphanet:85322"} xref: Orphanet:85322 {source="MONDO:equivalentTo"} xref: SCTID:719011002 {source="MONDO:equivalentTo"} xref: UMLS:CN206176 {source="MONDO:equivalentTo"} @@ -373186,7 +373024,7 @@ id: MONDO:0019421 name: X-linked intellectual disability, Seemanova type def: "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." [Orphanet:85323] subset: ordo_disease {source="Orphanet:85323"} -xref: ICD10CM:Q87.8 {source="Orphanet:85323", source="ORDO:85323/attributed", source="ORDO:85323/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85323", source="Orphanet:85323/attributed", source="Orphanet:85323/ntbt"} xref: Orphanet:85323 {source="MONDO:equivalentTo"} xref: SCTID:718897009 {source="MONDO:equivalentTo"} xref: UMLS:CN227630 {source="MONDO:equivalentTo"} @@ -373197,7 +373035,7 @@ id: MONDO:0019422 name: X-linked intellectual disability, Stevenson type def: "An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." [Orphanet:85325] subset: ordo_malformation_syndrome {source="Orphanet:85325"} -xref: ICD10CM:Q87.8 {source="Orphanet:85325", source="ORDO:85325/attributed", source="ORDO:85325/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85325/attributed", source="Orphanet:85325/ntbt", source="Orphanet:85325"} xref: Orphanet:85325 {source="MONDO:equivalentTo"} xref: SCTID:718909001 {source="MONDO:equivalentTo"} xref: UMLS:CN206178 {source="MONDO:equivalentTo"} @@ -373209,7 +373047,7 @@ id: MONDO:0019423 name: X-linked intellectual disability, Stoll type def: "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." [Orphanet:85326] subset: ordo_malformation_syndrome {source="Orphanet:85326"} -xref: ICD10CM:Q87.8 {source="Orphanet:85326", source="ORDO:85326/attributed", source="ORDO:85326/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:85326", source="Orphanet:85326/attributed", source="Orphanet:85326/ntbt"} xref: Orphanet:85326 {source="MONDO:equivalentTo"} xref: SCTID:718911005 {source="MONDO:equivalentTo"} xref: UMLS:CN206179 {source="MONDO:equivalentTo"} @@ -373221,7 +373059,7 @@ id: MONDO:0019424 name: X-linked intellectual disability-acromegaly-hyperactivity syndrome def: "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." [Orphanet:85327] subset: ordo_disease {source="Orphanet:85327"} -xref: ICD10CM:Q87.8 {source="ORDO:85327/attributed", source="ORDO:85327/ntbt", source="Orphanet:85327"} +xref: ICD10CM:Q87.8 {source="Orphanet:85327", source="Orphanet:85327/attributed", source="Orphanet:85327/ntbt"} xref: Orphanet:85327 {source="MONDO:equivalentTo"} xref: UMLS:CN227631 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="Orphanet:85327"} ! X-linked syndromic intellectual disability @@ -373241,7 +373079,7 @@ def: "X-linked intellectual disability-corpus callosum agenesis-spastic quadripa subset: ordo_disease {source="Orphanet:85330"} synonym: "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" RELATED [GARD:0012489] xref: GARD:0012489 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:85330/attributed", source="ORDO:85330/ntbt", source="Orphanet:85330"} +xref: ICD10CM:Q87.8 {source="Orphanet:85330/attributed", source="Orphanet:85330/ntbt", source="Orphanet:85330"} xref: Orphanet:85330 {source="MONDO:equivalentTo"} xref: UMLS:CN206182 {source="MONDO:equivalentTo"} is_a: MONDO:0019117 {source="MONDO:0017122-obsoleted"} ! genetic nervous system disorder @@ -373253,7 +373091,7 @@ id: MONDO:0019427 name: X-linked neurodegenerative syndrome, Bertini type def: "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." [Orphanet:85334] subset: ordo_disease {source="Orphanet:85334"} -xref: ICD10CM:G31.8 {source="Orphanet:85334", source="ORDO:85334/attributed", source="ORDO:85334/ntbt"} +xref: ICD10CM:G31.8 {source="Orphanet:85334", source="Orphanet:85334/attributed", source="Orphanet:85334/ntbt"} xref: Orphanet:85334 {source="MONDO:equivalentTo"} xref: SCTID:718849008 {source="MONDO:equivalentTo"} xref: UMLS:CN206185 {source="MONDO:equivalentTo"} @@ -373265,8 +373103,8 @@ id: MONDO:0019428 name: fried syndrome def: "Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." [Orphanet:85335] subset: ordo_malformation_syndrome {source="Orphanet:85335"} -xref: ICD10CM:Q87.8 {source="Orphanet:85335", source="ORDO:85335/attributed", source="ORDO:85335/ntbt"} -xref: OMIM:304340 {source="MONDO:subClassOf", source="Orphanet:85335", source="ORDO:85335/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q87.8 {source="Orphanet:85335/attributed", source="Orphanet:85335/ntbt", source="Orphanet:85335"} +xref: OMIM:304340 {source="MONDO:subClassOf", source="Orphanet:85335/ntbt", source="Orphanet:85335", source="MONDO:directSiblingOf"} xref: Orphanet:85335 {source="MONDO:equivalentTo"} xref: SCTID:718848000 {source="MONDO:equivalentTo"} xref: UMLS:C4305134 {source="MONDO:equivalentTo"} @@ -373280,7 +373118,7 @@ id: MONDO:0019429 name: X-linked neurodegenerative syndrome, Hamel type def: "X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." [Orphanet:85336] subset: ordo_disease {source="Orphanet:85336"} -xref: ICD10CM:G31.8 {source="Orphanet:85336", source="ORDO:85336/attributed", source="ORDO:85336/ntbt"} +xref: ICD10CM:G31.8 {source="Orphanet:85336/attributed", source="Orphanet:85336/ntbt", source="Orphanet:85336"} xref: Orphanet:85336 {source="MONDO:equivalentTo"} xref: SCTID:718847005 {source="MONDO:equivalentTo"} xref: UMLS:CN206187 {source="MONDO:equivalentTo"} @@ -373292,7 +373130,7 @@ id: MONDO:0019430 name: X-linked intellectual disability-ataxia-apraxia syndrome def: "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." [Orphanet:85338] subset: ordo_disease {source="Orphanet:85338"} -xref: ICD10CM:G31.8 {source="ORDO:85338/attributed", source="ORDO:85338/ntbt", source="Orphanet:85338"} +xref: ICD10CM:G31.8 {source="Orphanet:85338", source="Orphanet:85338/attributed", source="Orphanet:85338/ntbt"} xref: Orphanet:85338 {source="MONDO:equivalentTo"} xref: UMLS:CN227633 {source="MONDO:equivalentTo"} is_a: MONDO:0016612 {source="Orphanet:85338"} ! X-linked cerebellar ataxia @@ -373304,10 +373142,10 @@ name: primitive portal vein thrombosis def: "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." [Orphanet:854] subset: ordo_clinical_syndrome {source="Orphanet:854"} synonym: "non-cirrhotic portal vein thrombosis" EXACT [Orphanet:854] -xref: ICD10CM:I81 {source="ORDO:854/e", source="Orphanet:854", source="MONDO:relatedTo"} -xref: MedDRA:10036206 {source="ORDO:854/e", source="Orphanet:854"} +xref: ICD10CM:I81 {source="Orphanet:854", source="MONDO:relatedTo", source="Orphanet:854/e"} +xref: MedDRA:10036206 {source="Orphanet:854", source="Orphanet:854/e"} xref: Orphanet:854 {source="MONDO:equivalentTo"} -xref: UMLS:C0155773 {source="ORDO:854/e", source="Orphanet:854", source="MONDO:relatedTo"} +xref: UMLS:C0155773 {source="Orphanet:854", source="MONDO:relatedTo", source="Orphanet:854/e"} is_a: MONDO:0005154 ! liver disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare @@ -373319,7 +373157,7 @@ subset: ordo_disease {source="Orphanet:85408"} synonym: "juvenile rheumatoid factor-negative polyarthritis" EXACT [Orphanet:85408] synonym: "polyarthritis without rheumatoid factor" EXACT [Orphanet:85408] synonym: "rheumatoid factor-negative JIA" EXACT [Orphanet:85408] -xref: ICD10CM:M08.3 {source="ORDO:85408/ntbt", source="Orphanet:85408"} +xref: ICD10CM:M08.3 {source="Orphanet:85408", source="Orphanet:85408/ntbt"} xref: Orphanet:85408 {source="MONDO:equivalentTo"} is_a: MONDO:0018456 {source="Orphanet:85408"} ! polyarticular juvenile idiopathic arthritis @@ -373334,7 +373172,7 @@ synonym: "Pauciarticular JIA" EXACT [NCIT:C119032] synonym: "Pauciarticular juvenile idiopathic arthritis" EXACT [NCIT:C119032] xref: EFO:1002019 {source="MONDO:equivalentTo"} xref: GARD:0004261 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:85410", source="ORDO:85410/e"} +xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:85410", source="Orphanet:85410/e"} xref: MESH:C536312 {source="MONDO:equivalentTo"} xref: NCIT:C119032 {source="MONDO:equivalentTo"} xref: Orphanet:85410 {source="MONDO:equivalentTo"} @@ -373359,10 +373197,10 @@ synonym: "systemic polyarthritis" EXACT [Orphanet:85414] synonym: "systemic-onset JIA" EXACT [Orphanet:85414] xref: EFO:1001999 {source="MONDO:equivalentTo"} xref: GARD:0010966 {source="MONDO:equivalentTo"} -xref: ICD10CM:M08.2 {source="ORDO:85414/e", source="Orphanet:85414"} +xref: ICD10CM:M08.2 {source="Orphanet:85414", source="Orphanet:85414/e"} xref: MESH:C565798 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C119031 {source="MONDO:equivalentTo"} -xref: OMIM:604302 {source="MONDO:subClassOf", source="ORDO:85414/e", source="Orphanet:85414"} +xref: OMIM:604302 {source="MONDO:subClassOf", source="Orphanet:85414", source="Orphanet:85414/e"} xref: Orphanet:85414 {source="MONDO:equivalentTo"} xref: SCTID:201796004 {source="MONDO:equivalentTo"} xref: UMLS:C0087031 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85414"} @@ -373383,7 +373221,7 @@ synonym: "polyarticular JIA, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive" EXACT [NCIT:C119034] synonym: "rheumatoid factor-positive polyarticular JIA" EXACT [Orphanet:85435] -xref: ICD10CM:M08.0 {source="Orphanet:85435", source="ORDO:85435/ntbt"} +xref: ICD10CM:M08.0 {source="Orphanet:85435/ntbt", source="Orphanet:85435"} xref: NCIT:C119034 {source="MONDO:equivalentTo"} xref: Orphanet:85435 {source="MONDO:equivalentTo"} xref: UMLS:C3890733 {source="NCIT:C119034", source="MONDO:equivalentTo"} @@ -373398,12 +373236,12 @@ synonym: "JPsA" EXACT [NCIT:C114361] synonym: "juvenile psoriatic arthritis" EXACT [Orphanet:85436] synonym: "psoriasis-related JIA" EXACT [Orphanet:85436] xref: GARD:0010970 {source="MONDO:equivalentTo"} -xref: ICD10EXP:L40.5+ {source="Orphanet:85436", source="ORDO:85436/ntbt"} -xref: ICD10EXP:M09.0* {source="Orphanet:85436", source="ORDO:85436/ntbt"} +xref: ICD10EXP:L40.5+ {source="Orphanet:85436", source="Orphanet:85436/ntbt"} +xref: ICD10EXP:M09.0* {source="Orphanet:85436", source="Orphanet:85436/ntbt"} xref: NCIT:C114361 {source="MONDO:equivalentTo"} xref: Orphanet:85436 {source="MONDO:equivalentTo"} xref: SCTID:239802003 {source="MONDO:equivalentTo"} -xref: UMLS:C0409672 {source="ORDO:85436/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85436"} +xref: UMLS:C0409672 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:85436", source="Orphanet:85436/e"} xref: UMLS:C3714758 {source="NCIT:C114361", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0011429 {source="Orphanet:85436", source="linkedlifedata"} ! juvenile idiopathic arthritis is_a: MONDO:0011849 {source="NCIT:C114361"} ! psoriatic arthritis @@ -373421,7 +373259,7 @@ synonym: "era" EXACT [Orphanet:85438] synonym: "juvenile enthesitis-related arthritis" RELATED [GARD:0010969] synonym: "juvenile spondylarthropathy" RELATED [GARD:0010969] xref: GARD:0010969 {source="MONDO:equivalentTo"} -xref: ICD10CM:M08.8 {source="ORDO:85438/ntbt", source="Orphanet:85438"} +xref: ICD10CM:M08.8 {source="Orphanet:85438", source="Orphanet:85438/ntbt"} xref: NCIT:C119024 {source="MONDO:equivalentTo"} xref: Orphanet:85438 {source="MONDO:equivalentTo"} xref: SCTID:410801005 {source="MONDO:equivalentTo"} @@ -373448,12 +373286,12 @@ synonym: "primary systemic AL amyloidosis" RELATED [GARD:0005797] synonym: "primary systemic amyloidosis" RELATED [GARD:0005797] synonym: "systemic AL amyloidsis" RELATED [GARD:0005797] xref: GARD:0005797 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.9 {source="Orphanet:85443", source="ORDO:85443/index", source="ORDO:85443/ntbt"} -xref: MedDRA:10036673 {source="Orphanet:85443", source="ORDO:85443/e"} -xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="ORDO:85443/e"} -xref: OMIM:254500 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:85443", source="ORDO:85443/ntbt"} +xref: ICD10CM:E85.9 {source="Orphanet:85443/ntbt", source="Orphanet:85443", source="Orphanet:85443/index"} +xref: MedDRA:10036673 {source="Orphanet:85443", source="Orphanet:85443/e"} +xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"} +xref: OMIM:254500 {source="MONDO:subClassOf", source="Orphanet:85443/ntbt", source="MONDO:relatedTo", source="Orphanet:85443"} xref: Orphanet:85443 {source="MONDO:equivalentTo"} -xref: UMLS:C0268381 {source="Orphanet:85443", source="MONDO:equivalentTo", source="ORDO:85443/e"} +xref: UMLS:C0268381 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"} is_a: MONDO:0016179 {source="Orphanet:85443"} ! acquired amyloid peripheral neuropathy is_a: MONDO:0016330 {source="Orphanet:85443"} ! non-familial hypertrophic cardiomyopathy is_a: MONDO:0016345 {source="Orphanet:85443"} ! non-familial restrictive cardiomyopathy @@ -373473,13 +373311,13 @@ synonym: "inflammatory amyloidosis" EXACT [Orphanet:85445] synonym: "reactive amyloidosis" EXACT [Orphanet:85445] synonym: "secondary amyloidosis" EXACT [Orphanet:85445] xref: GARD:0010560 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.3 {source="ORDO:85445/e", source="Orphanet:85445"} +xref: ICD10CM:E85.3 {source="Orphanet:85445", source="Orphanet:85445/e"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10039811 {source="ORDO:85445/e", source="Orphanet:85445"} +xref: MedDRA:10039811 {source="Orphanet:85445", source="Orphanet:85445/e"} xref: NCIT:C3818 {source="MONDO:equivalentTo"} xref: Orphanet:85445 {source="MONDO:equivalentTo"} xref: SCTID:281034005 {source="MONDO:equivalentTo"} -xref: UMLS:C0221014 {source="ORDO:85445/e", source="NCIT:C3818", source="Orphanet:85445", source="MONDO:equivalentTo"} +xref: UMLS:C0221014 {source="NCIT:C3818", source="Orphanet:85445", source="MONDO:equivalentTo", source="Orphanet:85445/e"} xref: UMLS:C3536715 {source="MONDO:equivalentTo"} is_a: MONDO:0016179 {source="Orphanet:85445"} ! acquired amyloid peripheral neuropathy is_a: MONDO:0016345 {source="Orphanet:85445"} ! non-familial restrictive cardiomyopathy @@ -373501,7 +373339,7 @@ synonym: "dialysis-related arthropathy" EXACT [Orphanet:85446] synonym: "DRA" RELATED ABBREVIATION [GARD:0010563] synonym: "wild type ABeta2-microglobulinic amyloidosis" EXACT [Orphanet:85446] xref: GARD:0010563 {source="MONDO:equivalentTo"} -xref: ICD10CM:E85.3 {source="Orphanet:85446", source="ORDO:85446/ntbt"} +xref: ICD10CM:E85.3 {source="Orphanet:85446/ntbt", source="Orphanet:85446"} xref: Orphanet:85446 {source="MONDO:equivalentTo"} xref: SCTID:32599008 {source="MONDO:equivalentTo"} xref: UMLS:C0268405 {source="GARD:0010563", source="MONDO:notFoundInDiseaseSubset"} @@ -373520,9 +373358,9 @@ synonym: "transthyretin amyloid cardiopathy" EXACT [Orphanet:85451] synonym: "transthyretin-related familial amyloid cardiomyopathy" EXACT [Orphanet:85451] synonym: "TTR-related amyloid cardiomyopathy" EXACT [Orphanet:85451] synonym: "TTR-related cardiac amyloidosis" EXACT [Orphanet:85451] -xref: ICD10EXP:E85.4+ {source="ORDO:85451/inclusion", source="ORDO:85451/ntbt", source="Orphanet:85451"} -xref: ICD10EXP:I43.1* {source="ORDO:85451/inclusion", source="ORDO:85451/ntbt", source="Orphanet:85451"} -xref: OMIM:105210 {source="MONDO:subClassOf", source="ORDO:85451/ntbt", source="Orphanet:85451"} +xref: ICD10EXP:E85.4+ {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} +xref: ICD10EXP:I43.1* {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} +xref: OMIM:105210 {source="MONDO:subClassOf", source="Orphanet:85451/ntbt", source="Orphanet:85451"} xref: Orphanet:85451 {source="MONDO:equivalentTo"} xref: SCTID:715655000 {source="MONDO:equivalentTo"} is_a: MONDO:0007100 ! familial amyloid neuropathy @@ -373547,9 +373385,9 @@ synonym: "DTGA" EXACT ABBREVIATION [MONDO:Lexical] synonym: "isolated ventriculoarterial discordance" EXACT [DOID:0060770, Orphanet:860] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [DOID:0060770, Orphanet:860] xref: DOID:0060770 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q20.3 {source="DOID:0060770", source="ORDO:860/ntbt", source="ORDO:860/inclusion", source="Orphanet:860"} -xref: OMIM:608808 {source="ORDO:860/btnt", source="MONDO:superClassOf", source="Orphanet:860"} -xref: OMIM:613854 {source="ORDO:860/btnt", source="MONDO:superClassOf", source="Orphanet:860"} +xref: ICD10CM:Q20.3 {source="DOID:0060770", source="Orphanet:860/ntbt", source="Orphanet:860/inclusion", source="Orphanet:860"} +xref: OMIM:608808 {source="Orphanet:860/btnt", source="MONDO:superClassOf", source="Orphanet:860"} +xref: OMIM:613854 {source="Orphanet:860/btnt", source="MONDO:superClassOf", source="Orphanet:860"} xref: OMIMPS:608808 {source="DOID:0060770", source="MONDO:equivalentObsolete"} xref: Orphanet:860 {source="DOID:0060770", source="MONDO:equivalentTo"} is_a: MONDO:0000153 {source="MONDO:Redundant", source="Orphanet:860"} ! transposition of the great arteries @@ -373569,12 +373407,12 @@ synonym: "infection with Trichinella" RELATED [GARD:0005250] synonym: "trichiniasis" RELATED [GARD:0005250] synonym: "trichinosis" EXACT [Orphanet:863] xref: GARD:0005250 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:B75 {source="Orphanet:863", source="MONDO:equivalentTo", source="ORDO:863/e"} -xref: MedDRA:10044608 {source="Orphanet:863", source="ORDO:863/e"} -xref: MESH:D014235 {source="Orphanet:863", source="MONDO:equivalentTo", source="ORDO:863/e"} +xref: ICD10CM:B75 {source="Orphanet:863", source="MONDO:equivalentTo", source="Orphanet:863/e"} +xref: MedDRA:10044608 {source="Orphanet:863", source="Orphanet:863/e"} +xref: MESH:D014235 {source="Orphanet:863", source="MONDO:equivalentTo", source="Orphanet:863/e"} xref: Orphanet:863 {source="MONDO:equivalentTo"} xref: SCTID:709018004 {source="MONDO:equivalentTo"} -xref: UMLS:C0040896 {source="Orphanet:863", source="MONDO:notFoundInDiseaseSubset", source="ORDO:863/e"} +xref: UMLS:C0040896 {source="Orphanet:863", source="Orphanet:863/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005135 {source="Orphanet:863"} ! parasitic infectious disease is_a: MONDO:0016128 {source="Orphanet:863"} ! parasitic myositis relationship: has_modifier MONDO:0021136 {source="MONDO:0015577"} ! rare @@ -373587,12 +373425,12 @@ subset: gard_rare {source="GARD:0005263"} subset: ordo_disease {source="Orphanet:864"} xref: GARD:0005263 {source="MONDO:equivalentTo"} xref: ICDO:8101/0 {source="NCIT:C4112"} -xref: MedDRA:10044611 {source="Orphanet:864", source="ORDO:864/e"} -xref: MESH:C536553 {source="Orphanet:864", source="MONDO:equivalentTo", source="ORDO:864/e"} +xref: MedDRA:10044611 {source="Orphanet:864", source="Orphanet:864/e"} +xref: MESH:C536553 {source="Orphanet:864", source="MONDO:equivalentTo", source="Orphanet:864/e"} xref: NCIT:C4112 {source="MONDO:equivalentTo"} xref: Orphanet:864 {source="MONDO:equivalentTo"} xref: SCTID:274899008 {source="MONDO:equivalentTo"} -xref: UMLS:C0334262 {source="Orphanet:864", source="MONDO:equivalentTo", source="NCIT:C4112", source="ORDO:864/e"} +xref: UMLS:C0334262 {source="Orphanet:864", source="MONDO:equivalentTo", source="NCIT:C4112", source="Orphanet:864/e"} is_a: MONDO:0021539 {source="NCIT:C4112"} ! hamartoma of skin appendage relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:864"} ! obsolete rare skin tumor or hamartoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma xsd:anyURI {source="GARD:0005263"} @@ -373605,7 +373443,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:86795"} synonym: "papular mucinosis" EXACT [Orphanet:86795] xref: GARD:0007321 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L98.5 {source="Orphanet:86795", source="ORDO:86795/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:86795", source="Orphanet:86795/ntbt"} xref: Orphanet:86795 {source="MONDO:equivalentTo"} xref: UMLS:C0263390 {source="Orphanet:86795", source="MONDO:directSiblingOf"} is_a: MONDO:0018432 {source="MONDO:Redundant", source="Orphanet:86795"} ! lichen myxedematosus @@ -373618,7 +373456,7 @@ name: atypical lichen myxedematosus def: "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." [Orphanet:86797] subset: ordo_disease {source="Orphanet:86797"} synonym: "Intermediate lichen myxedematosus" EXACT [Orphanet:86797] -xref: ICD10CM:L98.5 {source="Orphanet:86797", source="ORDO:86797/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:86797", source="Orphanet:86797/ntbt"} xref: Orphanet:86797 {source="MONDO:equivalentTo"} xref: SCTID:725148000 {source="MONDO:equivalentTo"} xref: UMLS:C4510874 {source="MONDO:equivalentTo"} @@ -373638,12 +373476,12 @@ synonym: "familial adult myoclonic epilepsy" EXACT [Orphanet:86814] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [Orphanet:86814] synonym: "FCMTE" EXACT ABBREVIATION [Orphanet:86814] xref: DOID:0111689 {source="MONDO:subClassOf"} -xref: ICD10CM:G40.3 {source="ORDO:86814/attributed", source="ORDO:86814/ntbt", source="Orphanet:86814"} -xref: OMIM:601068 {source="MONDO:superClassOf", source="ORDO:86814/e", source="Orphanet:86814"} -xref: OMIM:607876 {source="ORDO:86814/btnt", source="MONDO:superClassOf", source="Orphanet:86814"} -xref: OMIM:613608 {source="ORDO:86814/btnt", source="MONDO:superClassOf", source="Orphanet:86814"} -xref: OMIM:615127 {source="ORDO:86814/btnt", source="MONDO:superClassOf", source="Orphanet:86814"} -xref: OMIM:615400 {source="ORDO:86814/btnt", source="MONDO:superClassOf", source="Orphanet:86814"} +xref: ICD10CM:G40.3 {source="Orphanet:86814", source="Orphanet:86814/attributed", source="Orphanet:86814/ntbt"} +xref: OMIM:601068 {source="MONDO:superClassOf", source="Orphanet:86814", source="Orphanet:86814/e"} +xref: OMIM:607876 {source="MONDO:superClassOf", source="Orphanet:86814", source="Orphanet:86814/btnt"} +xref: OMIM:613608 {source="MONDO:superClassOf", source="Orphanet:86814", source="Orphanet:86814/btnt"} +xref: OMIM:615127 {source="MONDO:superClassOf", source="Orphanet:86814", source="Orphanet:86814/btnt"} +xref: OMIM:615400 {source="MONDO:superClassOf", source="Orphanet:86814", source="Orphanet:86814/btnt"} xref: Orphanet:86814 {source="MONDO:equivalentTo"} xref: SCTID:717225001 {source="MONDO:equivalentTo"} xref: UMLS:C4273988 {source="MONDO:equivalentTo"} @@ -373657,7 +373495,7 @@ id: MONDO:0019449 name: lissencephaly type 3-familial fetal akinesia sequence syndrome def: "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia." [Orphanet:86821] subset: ordo_malformation_syndrome {source="Orphanet:86821"} -xref: ICD10CM:Q04.3 {source="Orphanet:86821", source="ORDO:86821/attributed", source="ORDO:86821/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:86821/attributed", source="Orphanet:86821/ntbt", source="Orphanet:86821"} xref: Orphanet:86821 {source="MONDO:equivalentTo"} xref: SCTID:718719001 {source="MONDO:equivalentTo"} xref: UMLS:CN227635 {source="MONDO:equivalentTo"} @@ -373670,7 +373508,7 @@ def: "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:86823"} synonym: "LCH" EXACT ABBREVIATION [Orphanet:86823] -xref: ICD10CM:Q04.3 {source="ORDO:86823/attributed", source="ORDO:86823/ntbt", source="Orphanet:86823"} +xref: ICD10CM:Q04.3 {source="Orphanet:86823", source="Orphanet:86823/attributed", source="Orphanet:86823/ntbt"} xref: Orphanet:86823 {source="MONDO:equivalentTo"} xref: SCTID:715817007 {source="MONDO:equivalentTo"} xref: UMLS:C4274995 {source="MONDO:equivalentTo"} @@ -373688,14 +373526,14 @@ synonym: "neutrophilic leukemia" EXACT [NCIT:C3179] xref: DOID:0080187 {source="MONDO:equivalentTo"} xref: EFO:1000179 {source="MONDO:equivalentTo"} xref: GARD:0010585 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.1 {source="ORDO:86829/ntbt", source="Orphanet:86829"} +xref: ICD10CM:D47.1 {source="Orphanet:86829/ntbt", source="Orphanet:86829"} xref: ICDO:9963/3 {source="NCIT:C3179"} -xref: MESH:D015467 {source="MONDO:equivalentTo", source="ORDO:86829/e", source="Orphanet:86829"} +xref: MESH:D015467 {source="Orphanet:86829/e", source="MONDO:equivalentTo", source="Orphanet:86829"} xref: NCIT:C3179 {source="DOID:0080187", source="EFO:1000179", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:CNL {source="MONDO:equivalentTo"} xref: Orphanet:86829 {source="MONDO:equivalentTo"} xref: SCTID:188734009 {source="MONDO:equivalentTo"} -xref: UMLS:C0023481 {source="MONDO:equivalentTo", source="NCIT:C3179", source="ORDO:86829/e", source="Orphanet:86829"} +xref: UMLS:C0023481 {source="Orphanet:86829/e", source="MONDO:equivalentTo", source="NCIT:C3179", source="Orphanet:86829"} xref: UMLS:C0474856 {source="MONDO:equivalentTo"} is_a: MONDO:0001014 {source="DOID:0080187", source="NCIT:C3179", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C3179", source="ONCOTREE:CNL", source="OWLReasoner:2017", source="Orphanet:86829"} ! myeloproliferative neoplasm @@ -373716,10 +373554,10 @@ synonym: "myeloproliferative neoplasm, unclassifiable" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disease" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350] synonym: "undifferentiated myeloproliferative disease" EXACT [Orphanet:86830] -xref: ICD10CM:D47.1 {source="Orphanet:86830", source="ORDO:86830/ntbt"} +xref: ICD10CM:D47.1 {source="Orphanet:86830", source="Orphanet:86830/ntbt"} xref: ICDO:9975/3 {source="NCIT:C27350"} xref: NCIT:C27350 {source="MONDO:equivalentTo"} -xref: OMIM:131440 {source="Orphanet:86830", source="MONDO:superClassOf", source="ORDO:86830/btnt"} +xref: OMIM:131440 {source="Orphanet:86830", source="Orphanet:86830/btnt", source="MONDO:superClassOf"} xref: Orphanet:86830 {source="MONDO:equivalentTo"} xref: UMLS:C1333046 {source="MONDO:equivalentTo", source="NCIT:C27350"} is_a: MONDO:0020076 {source="NCIT:C27350", source="Orphanet:86830"} ! myeloproliferative neoplasm @@ -373737,11 +373575,11 @@ synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574] xref: ICD10CM:D46.A {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9985/3 {source="NCIT:C8574"} -xref: MedDRA:10067959 {source="ORDO:86836/e", source="Orphanet:86836"} +xref: MedDRA:10067959 {source="Orphanet:86836", source="Orphanet:86836/e"} xref: NCIT:C8574 {source="MONDO:equivalentTo"} xref: Orphanet:86836 {source="MONDO:equivalentTo"} xref: SCTID:415285009 {source="MONDO:equivalentTo"} -xref: UMLS:C0796466 {source="NCIT:C8574", source="MONDO:equivalentTo", source="ORDO:86836/e", source="Orphanet:86836"} +xref: UMLS:C0796466 {source="NCIT:C8574", source="MONDO:equivalentTo", source="Orphanet:86836", source="Orphanet:86836/e"} is_a: MONDO:0018881 {source="NCIT:C8574", source="Orphanet:86836", source="linkedlifedata"} ! myelodysplastic syndrome relationship: has_modifier HP:0031375 ! Refractory @@ -373756,15 +373594,15 @@ synonym: "RAEB" EXACT ABBREVIATION [NCIT:C7506] synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506] synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506] xref: EFO:0003811 {source="MONDO:equivalentTo"} -xref: ICD10CM:D46.2 {source="ORDO:86839/ntbt", source="Orphanet:86839"} +xref: ICD10CM:D46.2 {source="Orphanet:86839/ntbt", source="Orphanet:86839"} xref: ICDO:9983/3 {source="NCIT:C7506"} -xref: MedDRA:10038270 {source="ORDO:86839/e", source="Orphanet:86839"} -xref: MESH:D000754 {source="MONDO:equivalentTo", source="ORDO:86839/e", source="Orphanet:86839"} +xref: MedDRA:10038270 {source="Orphanet:86839/e", source="Orphanet:86839"} +xref: MESH:D000754 {source="Orphanet:86839/e", source="MONDO:equivalentTo", source="Orphanet:86839"} xref: NCIT:C7506 {source="MONDO:equivalentTo", source="EFO:0003811"} xref: Orphanet:86839 {source="MONDO:equivalentTo"} xref: SCTID:128847002 {source="EFO:0003811"} xref: SCTID:398623004 {source="MONDO:equivalentTo"} -xref: UMLS:C0002894 {source="MONDO:equivalentTo", source="ORDO:86839/e", source="NCIT:C7506", source="Orphanet:86839"} +xref: UMLS:C0002894 {source="Orphanet:86839/e", source="MONDO:equivalentTo", source="NCIT:C7506", source="Orphanet:86839"} is_a: MONDO:0018881 {source="EFO:0003811", source="NCIT:C7506", source="Orphanet:86839", source="linkedlifedata"} ! myelodysplastic syndrome relationship: disease_arises_from_structure CL:0000049 {source="NCIT:C7506"} ! common myeloid progenitor relationship: disease_has_feature MONDO:0002049 {source="NCIT:C7506"} ! thrombocytopenia @@ -373783,15 +373621,15 @@ synonym: "acute myelosclerosis" EXACT [Orphanet:86843] synonym: "acute panmyelosis" EXACT [NCIT:C4344] synonym: "APMF" EXACT ABBREVIATION [NCIT:C4344, ONCOTREE:APMF] xref: GARD:0011907 {source="MONDO:equivalentTo"} -xref: ICD10CM:C94.4 {source="ORDO:86843/e", source="Orphanet:86843"} +xref: ICD10CM:C94.4 {source="Orphanet:86843", source="Orphanet:86843/e"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9931/3 {source="NCIT:C4344"} -xref: MedDRA:10000879 {source="ORDO:86843/e", source="Orphanet:86843"} +xref: MedDRA:10000879 {source="Orphanet:86843", source="Orphanet:86843/e"} xref: NCIT:C4344 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:APMF {source="MONDO:equivalentTo"} xref: Orphanet:86843 {source="MONDO:equivalentTo"} xref: SCTID:109991003 {source="MONDO:equivalentTo"} -xref: UMLS:C0334674 {source="ORDO:86843/e", source="Orphanet:86843", source="MONDO:equivalentTo", source="NCIT:C4344"} +xref: UMLS:C0334674 {source="Orphanet:86843", source="MONDO:equivalentTo", source="NCIT:C4344", source="Orphanet:86843/e"} is_a: MONDO:0015667 {source="Orphanet:86843"} ! acute myeloid leukemia by FAB classification property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis xsd:anyURI {source="GARD:0011907"} @@ -373810,7 +373648,7 @@ xref: NCIT:C9289 {source="MONDO:equivalentTo", source="exact-label-match"} xref: OMIM:601626 {source="MONDO:subClassOf", source="Orphanet:86845"} xref: Orphanet:86845 {source="MONDO:equivalentTo"} xref: SCTID:445448008 {source="MONDO:equivalentTo"} -xref: UMLS:C1292773 {source="NCIT:C9289", source="ORDO:86845/e", source="MONDO:equivalentTo", source="Orphanet:86845"} +xref: UMLS:C1292773 {source="NCIT:C9289", source="MONDO:equivalentTo", source="Orphanet:86845", source="Orphanet:86845/e"} is_a: MONDO:0018874 {source="NCIT:C9289"} ! acute myeloid leukemia relationship: excluded_subClassOf MONDO:0011118 ! bilineal acute myeloid leukemia property_value: confidence "0.0" xsd:double @@ -373832,12 +373670,12 @@ synonym: "Secondary AGL" EXACT [NCIT:C25765] synonym: "secondary AML" EXACT [Orphanet:86846] synonym: "therapy-related AML and myelodysplastic syndrome" EXACT [Orphanet:86846] xref: GARD:0012762 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.0 {source="ORDO:86846/ntbt", source="Orphanet:86846"} +xref: ICD10CM:C92.0 {source="Orphanet:86846", source="Orphanet:86846/ntbt"} xref: NCIT:C25765 {source="MONDO:equivalentTo"} xref: OMIM:601626 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:86846"} xref: Orphanet:86846 {source="MONDO:equivalentTo"} xref: SCTID:721306009 {source="MONDO:equivalentTo"} -xref: UMLS:C1292776 {source="ORDO:86846/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86846"} +xref: UMLS:C1292776 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86846", source="Orphanet:86846/e"} is_a: MONDO:0018874 {source="NCIT:C25765", source="Orphanet:86846", source="linkedlifedata"} ! acute myeloid leukemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome xsd:anyURI {source="GARD:0012762"} @@ -373850,13 +373688,13 @@ synonym: "basophilic leukemia" EXACT [NCIT:C3164] synonym: "leukemia basophilic" EXACT [NCIT:C3164] xref: EFO:0003029 {source="MONDO:equivalentTo"} xref: ICDO:9870/3 {source="NCIT:C3164"} -xref: MESH:D015471 {source="MONDO:equivalentTo", source="ORDO:86849/e", source="Orphanet:86849"} +xref: MESH:D015471 {source="Orphanet:86849/e", source="MONDO:equivalentTo", source="Orphanet:86849"} xref: NCIT:C3164 {source="EFO:0003029", source="MONDO:equivalentTo"} xref: ONCOTREE:ABL {source="MONDO:equivalentTo"} xref: Orphanet:86849 {source="MONDO:equivalentTo"} xref: SCTID:307592006 {source="MONDO:equivalentTo"} xref: SCTID:69077002 {source="EFO:0003029"} -xref: UMLS:C0023437 {source="NCIT:C3164", source="MONDO:equivalentTo", source="ORDO:86849/e", source="Orphanet:86849"} +xref: UMLS:C0023437 {source="Orphanet:86849/e", source="NCIT:C3164", source="MONDO:equivalentTo", source="Orphanet:86849"} xref: UMLS:C0221292 {source="MONDO:equivalentTo"} is_a: MONDO:0015667 {source="NCIT:C27753"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003029"} ! bilineal acute myeloid leukemia @@ -373884,15 +373722,15 @@ synonym: "hybrid acute leukemia" EXACT [Orphanet:86851] synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851] synonym: "mixed phenotype acute leukemia" EXACT [Orphanet:86851] xref: GARD:0008638 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C95.0 {source="Orphanet:86851", source="ORDO:86851/ntbt"} -xref: MedDRA:10067399 {source="Orphanet:86851", source="ORDO:86851/e"} -xref: MESH:D015456 {source="Orphanet:86851", source="MONDO:superClassOf", source="ORDO:86851/e"} +xref: ICD10CM:C95.0 {source="Orphanet:86851/ntbt", source="Orphanet:86851"} +xref: MedDRA:10067399 {source="Orphanet:86851", source="Orphanet:86851/e"} +xref: MESH:D015456 {source="Orphanet:86851", source="MONDO:superClassOf", source="Orphanet:86851/e"} xref: NCIT:C7464 {source="MONDO:equivalentTo", source="MONDO:0021040"} xref: OMIM:601626 {source="MONDO:subClassOf", source="Orphanet:86851", source="MONDO:superClassOf"} xref: Orphanet:86851 {source="MONDO:equivalentTo"} xref: SCTID:721308005 {source="MONDO:equivalentTo"} -xref: UMLS:C0023464 {source="Orphanet:86851", source="MONDO:superClassOf", source="ORDO:86851/e"} -xref: UMLS:C1301357 {source="NCIT:C7464", source="Orphanet:86851", source="MONDO:equivalentTo", source="ORDO:86851/e"} +xref: UMLS:C0023464 {source="Orphanet:86851", source="MONDO:superClassOf", source="Orphanet:86851/e"} +xref: UMLS:C1301357 {source="NCIT:C7464", source="Orphanet:86851", source="MONDO:equivalentTo", source="Orphanet:86851/e"} is_a: MONDO:0018874 {source="Orphanet:86851"} ! acute myeloid leukemia [Term] @@ -373905,14 +373743,14 @@ synonym: "B-cell prolymphocytic leukemia" EXACT [MONDO:0006099, NCIT:C4753] synonym: "B-PLL" EXACT [Orphanet:86852] synonym: "BPLL" RELATED ABBREVIATION [ONCOTREE:BPLL] xref: EFO:1000102 {source="MONDO:equivalentTo"} -xref: ICD10CM:C91.3 {source="Orphanet:86852", source="ORDO:86852/ntbt"} +xref: ICD10CM:C91.3 {source="Orphanet:86852", source="Orphanet:86852/ntbt"} xref: ICDO:9833/3 {source="NCIT:C4753"} -xref: MESH:D054403 {source="ORDO:86852/e", source="Orphanet:86852", source="MONDO:equivalentTo"} +xref: MESH:D054403 {source="Orphanet:86852", source="MONDO:equivalentTo", source="Orphanet:86852/e"} xref: NCIT:C4753 {source="EFO:1000102", source="MONDO:equivalentTo"} xref: ONCOTREE:BPLL {source="MONDO:equivalentTo"} xref: Orphanet:86852 {source="MONDO:equivalentTo"} xref: SCTID:277619001 {source="MONDO:equivalentTo"} -xref: UMLS:C0475801 {source="ORDO:86852/e", source="Orphanet:86852", source="MONDO:equivalentTo", source="NCIT:C4753"} +xref: UMLS:C0475801 {source="Orphanet:86852", source="MONDO:equivalentTo", source="NCIT:C4753", source="Orphanet:86852/e"} is_a: MONDO:0001023 {source="MESH:D054403", source="NCIT:C4753", source="linkedlifedata"} ! prolymphocytic leukemia is_a: MONDO:0004949 {source="NCIT:C4753", source="ONCOTREE:BPLL"} ! neoplasm of mature B-cells is_a: MONDO:0005402 {source="EFO:1000102", source="MESH:D054403/inferred", source="MONDO:Redundant", source="NCIT:C4753/inferred"} ! lymphoid leukemia @@ -373936,9 +373774,9 @@ synonym: "splenic marginal zone lymphoma" EXACT [MONDO:0006431, NCIT:C4663] synonym: "splenic marginal zone lymphoma with villous lymphocytes" EXACT [NCIT:C4663] xref: DOID:0050750 {source="MONDO:equivalentTo"} xref: EFO:1000550 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.0 {source="Orphanet:86854", source="ORDO:86854/ntbt"} +xref: ICD10CM:C83.0 {source="Orphanet:86854/ntbt", source="Orphanet:86854"} xref: ICDO:9689/3 {source="NCIT:C4663"} -xref: MedDRA:10062113 {source="ORDO:86854/e", source="Orphanet:86854"} +xref: MedDRA:10062113 {source="Orphanet:86854", source="Orphanet:86854/e"} xref: NCIT:C4663 {source="EFO:1000550", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:SMZL {source="MONDO:equivalentTo"} xref: Orphanet:86854 {source="MONDO:equivalentTo"} @@ -373952,7 +373790,7 @@ name: non-amyloid monoclonal immunoglobulin deposition disease subset: ordo_disease {source="Orphanet:86861"} synonym: "non-amyloid MIDD" EXACT [Orphanet:86861] synonym: "Randall disease" EXACT [Orphanet:86861] -xref: ICD10CM:D89.8 {source="Orphanet:86861", source="ORDO:86861/ntbt"} +xref: ICD10CM:D89.8 {source="Orphanet:86861", source="Orphanet:86861/ntbt"} xref: Orphanet:86861 {source="MONDO:equivalentTo"} xref: UMLS:CN206242 {source="MONDO:equivalentTo"} is_a: MONDO:0004959 {source="Orphanet:86861"} ! plasma cell neoplasm @@ -373967,12 +373805,12 @@ synonym: "HCD" EXACT ABBREVIATION [NCIT:C3082, Orphanet:86864] synonym: "heavy chain disease" EXACT [NCIT:C3082] xref: DOID:0060125 {source="MONDO:equivalentTo"} xref: EFO:1001341 {source="MONDO:equivalentTo"} -xref: ICD10CM:C88.2 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="ORDO:86864/btnt"} -xref: ICD10CM:C88.3 {source="MONDO:relatedTo", source="Orphanet:86864", source="ORDO:86864/btnt"} +xref: ICD10CM:C88.2 {source="Orphanet:86864/btnt", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo"} +xref: ICD10CM:C88.3 {source="Orphanet:86864/btnt", source="MONDO:relatedTo", source="Orphanet:86864"} xref: ICD9:273.2 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9762/3 {source="NCIT:C3082"} -xref: MedDRA:10019350 {source="ORDO:86864/e", source="Orphanet:86864"} -xref: MESH:D006362 {source="ORDO:86864/e", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo"} +xref: MedDRA:10019350 {source="Orphanet:86864", source="Orphanet:86864/e"} +xref: MESH:D006362 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="Orphanet:86864/e"} xref: NCIT:C3082 {source="DOID:0060125", source="MONDO:equivalentTo", source="exact-label-match"} xref: NCIT:C3083 {source="DOID:0060125", source="MONDO:superClassOf"} xref: NCIT:C3892 {source="DOID:0060125", source="MONDO:superClassOf"} @@ -373985,7 +373823,7 @@ xref: SCTID:5440009 {source="DOID:0060125"} xref: SCTID:61493004 {source="DOID:0060125", source="MONDO:superClassOf"} xref: SCTID:6381009 {source="DOID:0060125"} xref: SCTID:68979007 {source="DOID:0060125", source="MONDO:equivalentTo"} -xref: UMLS:C0018852 {source="ORDO:86864/e", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="NCIT:C3082"} +xref: UMLS:C0018852 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="Orphanet:86864/e", source="NCIT:C3082"} xref: UMLS:C0018854 {source="DOID:0060125", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0242310 {source="DOID:0060125", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004959 {source="Orphanet:86864", source="linkedlifedata"} ! plasma cell neoplasm @@ -374002,8 +373840,8 @@ synonym: "nodal marginal zone B-cell lymph." EXACT [NCIT:C8863] synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863] synonym: "nodal marginal zone lymphoma" EXACT [NCIT:C8863] xref: DOID:0080211 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.0 {source="ORDO:86867/ntbt", source="Orphanet:86867"} -xref: MedDRA:10029460 {source="ORDO:86867/e", source="Orphanet:86867"} +xref: ICD10CM:C83.0 {source="Orphanet:86867", source="Orphanet:86867/ntbt"} +xref: MedDRA:10029460 {source="Orphanet:86867", source="Orphanet:86867/e"} xref: NCIT:C8863 {source="DOID:0080211", source="MONDO:equivalentTo"} xref: ONCOTREE:NMZL {source="MONDO:equivalentTo"} xref: Orphanet:86867 {source="MONDO:equivalentTo"} @@ -374019,15 +373857,15 @@ subset: gard_rare {source="GARD:0006943"} subset: ordo_disease {source="Orphanet:86869"} synonym: "LYG" EXACT ABBREVIATION [ONCOTREE:LYG, Orphanet:86869] xref: GARD:0006943 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.8 {source="ORDO:86869/ntbt", source="Orphanet:86869"} +xref: ICD10CM:C83.8 {source="Orphanet:86869", source="Orphanet:86869/ntbt"} xref: ICDO:9766/1 {source="NCIT:C7930"} -xref: MedDRA:10025325 {source="ORDO:86869/e", source="Orphanet:86869"} -xref: MESH:D008230 {source="MONDO:equivalentTo", source="ORDO:86869/e", source="Orphanet:86869"} +xref: MedDRA:10025325 {source="Orphanet:86869", source="Orphanet:86869/e"} +xref: MESH:D008230 {source="MONDO:equivalentTo", source="Orphanet:86869", source="Orphanet:86869/e"} xref: NCIT:C7930 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:LYG {source="MONDO:equivalentTo"} xref: Orphanet:86869 {source="MONDO:equivalentTo"} xref: SCTID:239940004 {source="MONDO:equivalentTo"} -xref: UMLS:C0024307 {source="MONDO:equivalentTo", source="NCIT:C7930", source="ORDO:86869/e", source="Orphanet:86869"} +xref: UMLS:C0024307 {source="MONDO:equivalentTo", source="NCIT:C7930", source="Orphanet:86869", source="Orphanet:86869/e"} is_a: MONDO:0017343 {source="Orphanet:86869"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0018905 {source="Orphanet:86869"} ! diffuse large B-cell lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis xsd:anyURI {source="GARD:0006943"} @@ -374052,7 +373890,7 @@ synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556, Orpha synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203, Orphanet:86870] synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [NCIT:C7203] xref: GARD:0010556 {source="MONDO:equivalentTo"} -xref: ICD10CM:C86.4 {source="ORDO:86870/e", source="Orphanet:86870"} +xref: ICD10CM:C86.4 {source="Orphanet:86870/e", source="Orphanet:86870"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9727/3 {source="NCIT:C7203"} xref: NCIT:C7203 {source="MONDO:equivalentTo"} @@ -374086,10 +373924,10 @@ synonym: "T-PLL" EXACT [Orphanet:86871] synonym: "TPLL" RELATED ABBREVIATION [ONCOTREE:TPLL] xref: EFO:1000560 {source="MONDO:equivalentTo"} xref: GARD:0008224 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:C91.6 {source="Orphanet:86871", source="ORDO:86871/e"} +xref: ICD10CM:C91.6 {source="Orphanet:86871", source="Orphanet:86871/e"} xref: ICDO:9834/3 {source="NCIT:C4752"} -xref: MedDRA:10042985 {source="Orphanet:86871", source="ORDO:86871/e"} -xref: MESH:D015461 {source="Orphanet:86871", source="MONDO:equivalentTo", source="ORDO:86871/e"} +xref: MedDRA:10042985 {source="Orphanet:86871", source="Orphanet:86871/e"} +xref: MESH:D015461 {source="Orphanet:86871", source="MONDO:equivalentTo", source="Orphanet:86871/e"} xref: NCIT:C4752 {source="EFO:1000560", source="MONDO:equivalentTo"} xref: NCIT:C70649 {source="MONDO:equivalentObsolete"} xref: ONCOTREE:TPLL {source="MONDO:equivalentTo"} @@ -374097,7 +373935,7 @@ xref: Orphanet:86871 {source="MONDO:equivalentTo"} xref: SCTID:277545003 {source="MONDO:equivalentTo"} xref: SCTID:277567002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C0023494 {source="Orphanet:86871", source="MONDO:equivalentTo", source="NCIT:C70649"} -xref: UMLS:C2363142 {source="Orphanet:86871", source="MONDO:equivalentTo", source="NCIT:C4752", source="ORDO:86871/e"} +xref: UMLS:C2363142 {source="Orphanet:86871", source="MONDO:equivalentTo", source="Orphanet:86871/e", source="NCIT:C4752"} is_a: MONDO:0001023 {source="MESH:D015461", source="NCIT:C4752", source="linkedlifedata"} ! prolymphocytic leukemia is_a: MONDO:0005169 {source="NCIT:C4752"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0005525 {source="MESH:D015461", source="MONDO:Redundant", source="OWLReasoner:2017"} ! T-cell leukemia @@ -374134,14 +373972,14 @@ xref: ICD9:204.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9768/1 {source="NCIT:C4664"} xref: ICDO:9831/1 {source="NCIT:C4664"} xref: ICDO:9831/3 {source="NCIT:C4664"} -xref: MedDRA:10065862 {source="Orphanet:86872", source="ORDO:86872/e"} -xref: MESH:D054066 {source="Orphanet:86872", source="ORDO:86872/e"} +xref: MedDRA:10065862 {source="Orphanet:86872", source="Orphanet:86872/e"} +xref: MESH:D054066 {source="Orphanet:86872", source="Orphanet:86872/e"} xref: NCIT:C4664 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:TLGL {source="MONDO:equivalentTo"} xref: Orphanet:86872 {source="MONDO:equivalentTo"} xref: SCTID:277569004 {source="MONDO:equivalentTo"} xref: UMLS:C1522378 {source="MONDO:equivalentTo"} -xref: UMLS:C1955861 {source="Orphanet:86872", source="MONDO:equivalentTo", source="NCIT:C4664", source="ORDO:86872/e"} +xref: UMLS:C1955861 {source="Orphanet:86872", source="MONDO:equivalentTo", source="Orphanet:86872/e", source="NCIT:C4664"} xref: UMLS:C2930809 {source="Orphanet:86872", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C4664", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0005169 {source="NCIT:C4664"} ! neoplasm of mature T-cells or NK-cells @@ -374177,13 +374015,13 @@ xref: DOID:1035 {source="MONDO:equivalentTo"} xref: GARD:0010493 {source="MONDO:equivalentTo"} xref: ICD10CM:C94.8 {source="DOID:1035"} xref: ICDO:9948/3 {source="NCIT:C8647"} -xref: MedDRA:10028811 {source="Orphanet:86873", source="ORDO:86873/e"} +xref: MedDRA:10028811 {source="Orphanet:86873", source="Orphanet:86873/e"} xref: NCIT:C8647 {source="DOID:1035", source="MONDO:equivalentTo"} xref: ONCOTREE:ANKL {source="MONDO:equivalentTo"} xref: Orphanet:86873 {source="MONDO:equivalentTo"} xref: SCTID:128833001 {source="DOID:1035"} xref: SCTID:721310007 {source="MONDO:equivalentTo"} -xref: UMLS:C1292777 {source="Orphanet:86873", source="DOID:1035", source="MONDO:equivalentTo", source="NCIT:C8647", source="ORDO:86873/e"} +xref: UMLS:C1292777 {source="Orphanet:86873", source="DOID:1035", source="MONDO:equivalentTo", source="NCIT:C8647", source="Orphanet:86873/e"} xref: UMLS:C1522378 {source="Orphanet:86873", source="MONDO:directSiblingOf"} is_a: MONDO:0001014 {source="NCIT:C8647"} ! chronic leukemia is_a: MONDO:0004805 {source="DOID:1035", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder @@ -374213,19 +374051,19 @@ synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184] synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0050523 {source="MONDO:equivalentTo"} xref: GARD:0013103 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C91.5 {source="Orphanet:86875", source="DOID:0050523", source="ORDO:86875/ntbt"} +xref: ICD10CM:C91.5 {source="Orphanet:86875/ntbt", source="Orphanet:86875", source="DOID:0050523"} xref: ICD10CM:C91.50 {source="DOID:0050523"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9827/3 {source="NCIT:C3184"} -xref: MedDRA:10001413 {source="ORDO:86875/e", source="Orphanet:86875"} -xref: MESH:D015459 {source="ORDO:86875/e", source="Orphanet:86875", source="DOID:0050523"} +xref: MedDRA:10001413 {source="Orphanet:86875", source="Orphanet:86875/e"} +xref: MESH:D015459 {source="Orphanet:86875", source="DOID:0050523", source="Orphanet:86875/e"} xref: NCIT:C3184 {source="MONDO:equivalentTo", source="DOID:0050523"} xref: ONCOTREE:ATLL {source="MONDO:equivalentTo"} xref: Orphanet:86875 {source="MONDO:equivalentTo"} xref: SCTID:110007008 {source="MONDO:equivalentTo", source="DOID:0050523"} xref: SCTID:188729005 {source="DOID:0050523"} xref: SCTID:77430005 {source="DOID:0050523"} -xref: UMLS:C0023493 {source="ORDO:86875/e", source="NCIT:C3184", source="Orphanet:86875", source="MONDO:equivalentTo", source="DOID:0050523"} +xref: UMLS:C0023493 {source="NCIT:C3184", source="Orphanet:86875", source="MONDO:equivalentTo", source="DOID:0050523", source="Orphanet:86875/e"} is_a: MONDO:0005525 {source="DOID:0050523", source="MONDO:Redundant"} ! T-cell leukemia is_a: MONDO:0015760 {source="MONDO:Redundant", source="NCIT:C3184/inferred", source="Orphanet:86875", source="Orphanet:86875/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0015817 {source="Orphanet:86875"} ! aggressive primary cutaneous T-cell lymphoma @@ -374249,14 +374087,14 @@ synonym: "NK/T-cell lymphoma" EXACT [Orphanet:86879] synonym: "NKTCL" EXACT ABBREVIATION [Orphanet:86879] synonym: "reticulosis, malignant" EXACT [NCIT:C4684] xref: GARD:0013270 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:C86.0 {source="ORDO:86879/e", source="Orphanet:86879"} +xref: ICD10CM:C86.0 {source="Orphanet:86879", source="Orphanet:86879/e"} xref: ICDO:9719/3 {source="NCIT:C4684"} -xref: MedDRA:10065855 {source="ORDO:86879/e", source="Orphanet:86879"} -xref: MESH:D054391 {source="ORDO:86879/e", source="Orphanet:86879"} +xref: MedDRA:10065855 {source="Orphanet:86879", source="Orphanet:86879/e"} +xref: MESH:D054391 {source="Orphanet:86879", source="Orphanet:86879/e"} xref: NCIT:C4684 {source="MONDO:equivalentTo"} xref: Orphanet:86879 {source="MONDO:equivalentTo"} xref: UMLS:C0018197 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86879"} -xref: UMLS:C0392788 {source="ORDO:86879/e", source="MONDO:equivalentTo", source="NCIT:C4684", source="Orphanet:86879"} +xref: UMLS:C0392788 {source="MONDO:equivalentTo", source="NCIT:C4684", source="Orphanet:86879", source="Orphanet:86879/e"} is_a: MONDO:0015817 {source="Orphanet:86879"} ! aggressive primary cutaneous T-cell lymphoma is_a: MONDO:0017343 {source="Orphanet:86879"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder @@ -374277,16 +374115,16 @@ synonym: "ETTL" EXACT ABBREVIATION [Orphanet:86880] synonym: "high-grade pleomorphic peripheral T-cell lymphoma" RELATED [GARD:0009809] synonym: "intestinal T-cell lymphoma" EXACT [Orphanet:86880] xref: GARD:0009809 {source="MONDO:equivalentTo"} -xref: ICD10CM:C86.2 {source="ORDO:86880/e", source="Orphanet:86880"} +xref: ICD10CM:C86.2 {source="Orphanet:86880/e", source="Orphanet:86880"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9717/3 {source="NCIT:C4737"} -xref: MedDRA:10022703 {source="ORDO:86880/e", source="Orphanet:86880"} -xref: MESH:D058527 {source="MONDO:equivalentTo", source="ORDO:86880/e", source="Orphanet:86880"} +xref: MedDRA:10022703 {source="Orphanet:86880/e", source="Orphanet:86880"} +xref: MESH:D058527 {source="Orphanet:86880/e", source="MONDO:equivalentTo", source="Orphanet:86880"} xref: NCIT:C4737 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:EATL {source="MONDO:equivalentTo"} xref: Orphanet:86880 {source="MONDO:equivalentTo"} xref: SCTID:277654008 {source="MONDO:equivalentTo"} -xref: UMLS:C0456889 {source="MONDO:equivalentTo", source="ORDO:86880/e", source="NCIT:C4737", source="Orphanet:86880"} +xref: UMLS:C0456889 {source="Orphanet:86880/e", source="MONDO:equivalentTo", source="NCIT:C4737", source="Orphanet:86880"} is_a: MONDO:0015760 {source="MESH:D058527", source="NCIT:C4737/inferred", source="Orphanet:86880", source="linkedlifedata", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma relationship: excluded_subClassOf MONDO:0018505 {source="MONDO:Redundant", source="Orphanet:86880"} ! obsolete rare tumor of small intestine property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma xsd:anyURI {source="GARD:0009809"} @@ -374298,16 +374136,16 @@ def: "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cyt subset: ordo_disease {source="Orphanet:86882"} synonym: "Hepatosplenic gamma/Delta T-cell lymphoma" EXACT [NCIT:C8459] synonym: "HSTCL" RELATED ABBREVIATION [ONCOTREE:HSTCL] -xref: ICD10CM:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="ORDO:86882/e"} +xref: ICD10CM:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9716/3 {source="NCIT:C8459"} -xref: MedDRA:10066957 {source="Orphanet:86882", source="ORDO:86882/e"} +xref: MedDRA:10066957 {source="Orphanet:86882", source="Orphanet:86882/e"} xref: NCIT:C8459 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:HSTCL {source="MONDO:equivalentTo"} xref: Orphanet:86882 {source="MONDO:equivalentTo"} xref: SCTID:445406001 {source="MONDO:equivalentTo"} xref: UMLS:C0522627 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C8459"} -xref: UMLS:C1333984 {source="Orphanet:86882", source="MONDO:equivalentTo", source="ORDO:86882/e"} +xref: UMLS:C1333984 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"} is_a: MONDO:0015760 {source="NCIT:C8459/inferred", source="Orphanet:86882", source="linkedlifedata"} ! T-cell non-Hodgkin lymphoma [Term] @@ -374326,7 +374164,7 @@ xref: GARD:0010193 {source="MONDO:equivalentTo"} xref: ICD10CM:C86.3 {source="MONDO:equivalentTo"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9708/3 {source="NCIT:C6918"} -xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="ORDO:86884/e"} +xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="Orphanet:86884/e"} xref: NCIT:C6918 {source="MONDO:equivalentTo", source="EFO:1000552"} xref: OMIM:618398 {source="MONDO:equivalentTo"} xref: ONCOTREE:SPTCL {source="MONDO:equivalentTo"} @@ -374344,11 +374182,11 @@ name: primary cutaneous peripheral T-cell lymphoma not otherwise specified subset: ordo_disease {source="Orphanet:86885"} synonym: "primary cutaneous peripheral T-cell lymphoma NOS" RELATED EXCLUDE [Orphanet:86885] synonym: "primary cutaneous unspecified peripheral T-cell lymphoma" EXACT [Orphanet:86885] -xref: ICD10CM:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source="ORDO:86885/ntbt"} -xref: MedDRA:10034623 {source="ORDO:86885/e", source="Orphanet:86885"} -xref: MESH:D016411 {source="ORDO:86885/e", source="Orphanet:86885", source="MONDO:relatedTo"} +xref: ICD10CM:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/ntbt"} +xref: MedDRA:10034623 {source="Orphanet:86885", source="Orphanet:86885/e"} +xref: MESH:D016411 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/e"} xref: Orphanet:86885 {source="MONDO:equivalentTo"} -xref: UMLS:C0079774 {source="ORDO:86885/e", source="Orphanet:86885", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0079774 {source="Orphanet:86885", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86885/e"} is_a: MONDO:0015817 {source="Orphanet:86885"} ! aggressive primary cutaneous T-cell lymphoma [Term] @@ -374381,16 +374219,16 @@ def: "An aggressive malignant neoplasm with a poor response to therapy, usually subset: ordo_disease {source="Orphanet:86896"} synonym: "histiocytic sarcoma" EXACT [NCIT:C27349] synonym: "sarcoma, histiocytic, malignant" EXACT [NCIT:C27349] -xref: ICD10CM:C96.8 {source="ORDO:86896/e", source="Orphanet:86896"} +xref: ICD10CM:C96.8 {source="Orphanet:86896", source="Orphanet:86896/e"} xref: ICD10CM:C96.A {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9755/3 {source="NCIT:C27349"} -xref: MESH:D054747 {source="ORDO:86896/e", source="Orphanet:86896", source="MONDO:equivalentTo"} +xref: MESH:D054747 {source="Orphanet:86896", source="MONDO:equivalentTo", source="Orphanet:86896/e"} xref: NCIT:C27349 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:HS {source="MONDO:equivalentTo"} xref: Orphanet:86896 {source="MONDO:equivalentTo"} xref: SCTID:109988003 {source="MONDO:equivalentTo"} -xref: UMLS:C0334663 {source="ORDO:86896/e", source="Orphanet:86896", source="MONDO:equivalentTo", source="NCIT:C27349"} +xref: UMLS:C0334663 {source="Orphanet:86896", source="MONDO:equivalentTo", source="NCIT:C27349", source="Orphanet:86896/e"} is_a: MONDO:0006247 {source="NCIT:C27349", source="Orphanet:86896/inferred"} ! histiocytic and dendritic cell neoplasm is_a: MONDO:0020081 {source="Orphanet:86896"} ! macrophage or histiocytic tumor @@ -374407,15 +374245,15 @@ synonym: "sarcoma of Langerhans cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:7146 {source="EFO:0007336", source="MONDO:equivalentTo"} xref: EFO:0007336 {source="MONDO:equivalentTo"} xref: GARD:0010491 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.4 {source="Orphanet:86897", source="ORDO:86897/ntbt", source="DOID:7146"} +xref: ICD10CM:C96.4 {source="Orphanet:86897/ntbt", source="Orphanet:86897", source="DOID:7146"} xref: ICDO:9756/3 {source="NCIT:C6921"} -xref: MESH:D054752 {source="ORDO:86897/e", source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="DOID:7146"} +xref: MESH:D054752 {source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="Orphanet:86897/e", source="DOID:7146"} xref: NCIT:C6921 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:7146"} xref: ONCOTREE:LCS {source="MONDO:equivalentTo"} xref: Orphanet:86897 {source="MONDO:equivalentTo"} xref: SCTID:128814006 {source="DOID:7146"} xref: SCTID:724649000 {source="MONDO:equivalentTo"} -xref: UMLS:C1260327 {source="ORDO:86897/e", source="Orphanet:86897", source="MONDO:equivalentTo", source="NCIT:C6921", source="DOID:7146"} +xref: UMLS:C1260327 {source="Orphanet:86897", source="MONDO:equivalentTo", source="NCIT:C6921", source="Orphanet:86897/e", source="DOID:7146"} is_a: MONDO:0004380 {source="DOID:7146", source="MONDO:Entailed", source="MONDO:Redundant"} ! dendritic cell sarcoma is_a: MONDO:0006247 {source="DOID:7146/inferred", source="MONDO:Redundant", source="NCIT:C6921", source="NCIT:C6921/inferred", source="Orphanet:86897/inferred"} ! histiocytic and dendritic cell neoplasm is_a: MONDO:0020082 {source="Orphanet:86897"} ! dendritic cell tumor @@ -374434,9 +374272,9 @@ replaced_by: MONDO:0005764 id: MONDO:0019482 name: dendritic cell sarcoma not otherwise specified subset: ordo_disease {source="Orphanet:86903"} -xref: ICD10CM:C96.4 {source="ORDO:86903/ntbt", source="Orphanet:86903"} +xref: ICD10CM:C96.4 {source="Orphanet:86903/ntbt", source="Orphanet:86903"} xref: Orphanet:86903 {source="MONDO:equivalentTo"} -xref: UMLS:C1301364 {source="ORDO:86903/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86903"} +xref: UMLS:C1301364 {source="Orphanet:86903/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86903"} is_a: MONDO:0020082 {source="Orphanet:86903"} ! dendritic cell tumor [Term] @@ -374464,7 +374302,7 @@ id: MONDO:0019484 name: hypothalamic hamartomas with gelastic seizures def: "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." [Orphanet:86906] subset: ordo_disease {source="Orphanet:86906"} -xref: ICD10CM:G40.5 {source="ORDO:86906/attributed", source="ORDO:86906/ntbt", source="Orphanet:86906"} +xref: ICD10CM:G40.5 {source="Orphanet:86906/attributed", source="Orphanet:86906/ntbt", source="Orphanet:86906"} xref: Orphanet:86906 {source="MONDO:equivalentTo"} is_a: MONDO:0016054 {source="Orphanet:86906", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral malformation @@ -374476,10 +374314,10 @@ subset: ordo_disease {source="Orphanet:86908"} synonym: "hemiconvulsion-hemiplegia-epilepsy syndrome" EXACT [Orphanet:86908] synonym: "HHE syndrome" EXACT [Orphanet:86908] synonym: "IHHS" EXACT ABBREVIATION [Orphanet:86908] -xref: ICD10CM:G40.4 {source="ORDO:86908/ntbt", source="Orphanet:86908"} +xref: ICD10CM:G40.4 {source="Orphanet:86908/ntbt", source="Orphanet:86908"} xref: Orphanet:86908 {source="MONDO:equivalentTo"} xref: SCTID:230407006 {source="MONDO:equivalentTo"} -xref: UMLS:C0549118 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:86908/e", source="Orphanet:86908"} +xref: UMLS:C0549118 {source="Orphanet:86908/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86908"} is_a: MONDO:0020071 {source="Orphanet:86908"} ! infantile epilepsy syndrome is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome relationship: has_modifier HP:0003593 {source="Orphanet:86908"} ! Infantile onset @@ -374491,10 +374329,10 @@ name: myoclonic epilepsy of infancy subset: ordo_disease {source="Orphanet:86909"} synonym: "benign myoclonic epilepsy of infancy" EXACT [Orphanet:86909] synonym: "benign myoclonus epilepsy of infancy" EXACT [Orphanet:86909] -xref: ICD10CM:G40.3 {source="Orphanet:86909", source="ORDO:86909/attributed", source="ORDO:86909/ntbt"} +xref: ICD10CM:G40.3 {source="Orphanet:86909", source="Orphanet:86909/attributed", source="Orphanet:86909/ntbt"} xref: Orphanet:86909 {source="MONDO:equivalentTo"} -xref: UMLS:C0751120 {source="Orphanet:86909", source="MONDO:notFoundInDiseaseSubset", source="ORDO:86909/e"} -xref: UMLS:C0917800 {source="Orphanet:86909", source="MONDO:superClassOf", source="ORDO:86909/e"} +xref: UMLS:C0751120 {source="Orphanet:86909", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86909/e"} +xref: UMLS:C0917800 {source="Orphanet:86909", source="MONDO:superClassOf", source="Orphanet:86909/e"} xref: UMLS:CN206266 {source="MONDO:equivalentTo"} is_a: MONDO:0100022 {source="Orphanet:86909", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome @@ -374502,7 +374340,7 @@ is_a: MONDO:0100022 {source="Orphanet:86909", source="http://orcid.org/0000-0001 id: MONDO:0019487 name: epilepsy with myoclonic absences subset: ordo_disease {source="Orphanet:86911"} -xref: ICD10CM:G40.4 {source="ORDO:86911/ntbt", source="Orphanet:86911"} +xref: ICD10CM:G40.4 {source="Orphanet:86911", source="Orphanet:86911/ntbt"} xref: Orphanet:86911 {source="MONDO:equivalentTo"} xref: SCTID:230422001 {source="MONDO:equivalentTo"} xref: UMLS:C0393703 {source="Orphanet:86911", source="MONDO:notFoundInDiseaseSubset"} @@ -374516,7 +374354,7 @@ def: "A rare epilepsy syndrome characterized by recurrent, long-lasting myocloni subset: ordo_malformation_syndrome {source="Orphanet:86913"} synonym: "myoclonic status in non-progressive encephalopathies" EXACT [Orphanet:86913] synonym: "myoclonus epilepsy in non-progressive encephalopathies" EXACT [Orphanet:86913] -xref: ICD10CM:G40.4 {source="ORDO:86913/attributed", source="ORDO:86913/ntbt", source="Orphanet:86913"} +xref: ICD10CM:G40.4 {source="Orphanet:86913", source="Orphanet:86913/attributed", source="Orphanet:86913/ntbt"} xref: Orphanet:86913 {source="MONDO:equivalentTo"} is_a: MONDO:0020071 {source="Orphanet:86913"} ! infantile epilepsy syndrome @@ -374526,7 +374364,7 @@ name: diffuse palmoplantar keratoderma - acrocyanosis syndrome def: "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." [Orphanet:86918] subset: ordo_disease {source="Orphanet:86918"} synonym: "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" EXACT [Orphanet:86918] -xref: ICD10CM:Q82.8 {source="ORDO:86918/attributed", source="ORDO:86918/ntbt", source="Orphanet:86918"} +xref: ICD10CM:Q82.8 {source="Orphanet:86918/attributed", source="Orphanet:86918/ntbt", source="Orphanet:86918"} xref: Orphanet:86918 {source="MONDO:equivalentTo"} xref: UMLS:CN206272 {source="MONDO:equivalentTo"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma @@ -374548,13 +374386,13 @@ synonym: "hereditary bundle branch defect" NARROW [DOID:0111073, Orphanet:871] synonym: "PFHB" EXACT ABBREVIATION [DOID:0111073] xref: DOID:0111073 {source="MONDO:equivalentTo"} xref: GARD:0010005 {source="MONDO:equivalentTo"} -xref: ICD10CM:I45.8 {source="ORDO:871/attributed", source="ORDO:871/ntbt", source="Orphanet:871"} +xref: ICD10CM:I45.8 {source="Orphanet:871/attributed", source="Orphanet:871/ntbt", source="Orphanet:871"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:113900 {source="MONDO:superClassOf", source="ORDO:871/e", source="Orphanet:871"} -xref: OMIM:115080 {source="ORDO:871/ntbt", source="MONDO:relatedTo", source="Orphanet:871"} -xref: OMIM:140400 {source="ORDO:871/btnt", source="MONDO:superClassOf", source="Orphanet:871"} -xref: OMIM:604559 {source="ORDO:871/btnt", source="MONDO:superClassOf", source="Orphanet:871"} -xref: OMIM:612838 {source="MONDO:subClassOf", source="ORDO:871/ntbt", source="MONDO:relatedTo", source="Orphanet:871"} +xref: OMIM:113900 {source="Orphanet:871/e", source="MONDO:superClassOf", source="Orphanet:871"} +xref: OMIM:115080 {source="MONDO:relatedTo", source="Orphanet:871/ntbt", source="Orphanet:871"} +xref: OMIM:140400 {source="Orphanet:871/btnt", source="MONDO:superClassOf", source="Orphanet:871"} +xref: OMIM:604559 {source="Orphanet:871/btnt", source="MONDO:superClassOf", source="Orphanet:871"} +xref: OMIM:612838 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:871/ntbt", source="Orphanet:871"} xref: OMIMPS:113900 {source="MONDO:equivalentTo", source="DOID:0111073"} xref: Orphanet:871 {source="MONDO:equivalentTo", source="DOID:0111073"} xref: SCTID:698249005 {source="MONDO:equivalentTo"} @@ -374592,8 +374430,8 @@ def: "Adult heart tumor refers to neoplasms of the heart that manifest in adults subset: ordo_disease {source="Orphanet:874"} synonym: "adult cardiac tumor" EXACT [Orphanet:874] synonym: "adult heart tumor" EXACT [Orphanet:874] -xref: ICD10CM:C38.0 {source="Orphanet:874", source="ORDO:874/ntbt"} -xref: ICD10CM:D15.1 {source="Orphanet:874", source="MONDO:relatedTo", source="ORDO:874/ntbt"} +xref: ICD10CM:C38.0 {source="Orphanet:874", source="Orphanet:874/ntbt"} +xref: ICD10CM:D15.1 {source="Orphanet:874", source="MONDO:relatedTo", source="Orphanet:874/ntbt"} xref: Orphanet:874 {source="MONDO:equivalentTo"} xref: SCTID:715403006 {source="MONDO:equivalentTo"} xref: UMLS:C4275152 {source="MONDO:equivalentTo"} @@ -374609,8 +374447,8 @@ subset: ordo_disease {source="Orphanet:875"} synonym: "Cardiac tumor of child" EXACT [Orphanet:875] synonym: "heart tumor of child" EXACT [Orphanet:875] synonym: "pediatric heart neoplasm" EXACT [MONDO:cjm] -xref: ICD10CM:C38.0 {source="Orphanet:875", source="ORDO:875/ntbt"} -xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:875", source="ORDO:875/ntbt"} +xref: ICD10CM:C38.0 {source="Orphanet:875/ntbt", source="Orphanet:875"} +xref: ICD10CM:D15.1 {source="Orphanet:875/ntbt", source="MONDO:relatedTo", source="Orphanet:875"} xref: Orphanet:875 {source="MONDO:equivalentTo"} xref: UMLS:CN206281 {source="MONDO:equivalentTo"} is_a: MONDO:0021209 {source="Orphanet:875"} ! heart neoplasm @@ -374669,7 +374507,7 @@ synonym: "nonsyndromic hereditary hearing loss" EXACT [DOID:0050563] xref: DOID:0050563 {source="MONDO:equivalentTo"} xref: EFO:0009076 {source="MONDO:equivalentTo"} xref: GARD:0006410 {source="MONDO:equivalentTo"} -xref: ICD10CM:H90.5 {source="Orphanet:87884", source="ORDO:87884/specific", source="ORDO:87884/e"} +xref: ICD10CM:H90.5 {source="Orphanet:87884", source="Orphanet:87884/e", source="Orphanet:87884/specific"} xref: MESH:C580334 {source="MONDO:equivalentTo"} xref: Orphanet:87884 {source="MONDO:equivalentTo"} xref: UMLS:CN043648 {source="MONDO:equivalentTo"} @@ -374699,9 +374537,9 @@ synonym: "Tunga penetrans infectious disease" EXACT [] xref: DOID:0050266 {source="MONDO:equivalentTo"} xref: EFO:1001445 {source="MONDO:equivalentTo"} xref: GARD:0000393 {source="MONDO:equivalentTo"} -xref: ICD10CM:B88.1 {source="ORDO:879/e", source="Orphanet:879"} +xref: ICD10CM:B88.1 {source="Orphanet:879", source="Orphanet:879/e"} xref: ICD9:134.1 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D058285 {source="ORDO:879/e", source="MONDO:equivalentTo", source="Orphanet:879"} +xref: MESH:D058285 {source="MONDO:equivalentTo", source="Orphanet:879", source="Orphanet:879/e"} xref: Orphanet:879 {source="MONDO:equivalentTo"} xref: SCTID:64612002 {source="MONDO:equivalentTo"} xref: UMLS:C0277356 {source="MONDO:equivalentTo", source="Orphanet:879"} @@ -374749,16 +374587,16 @@ xref: GARD:0002459 {source="MONDO:equivalentTo"} xref: GARD:0002540 {source="MONDO:equivalentTo"} xref: GARD:0007831 {source="MONDO:equivalentTo"} xref: ICD10CM:Q96 {source="DOID:3491"} -xref: ICD10CM:Q96.0 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881", source="DOID:3491"} -xref: ICD10CM:Q96.1 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"} -xref: ICD10CM:Q96.2 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"} -xref: ICD10CM:Q96.3 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"} -xref: ICD10CM:Q96.4 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"} -xref: ICD10CM:Q96.8 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881"} -xref: ICD10CM:Q96.9 {source="ORDO:881/btnt", source="ORDO:881/specific", source="Orphanet:881", source="DOID:3491"} +xref: ICD10CM:Q96.0 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881", source="DOID:3491"} +xref: ICD10CM:Q96.1 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} +xref: ICD10CM:Q96.2 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} +xref: ICD10CM:Q96.3 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} +xref: ICD10CM:Q96.4 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} +xref: ICD10CM:Q96.8 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} +xref: ICD10CM:Q96.9 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881", source="DOID:3491"} xref: ICD9:758.7 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10045181 {source="ORDO:881/e", source="Orphanet:881"} -xref: MESH:D014424 {source="MONDO:equivalentTo", source="ORDO:881/e", source="Orphanet:881", source="DOID:3491"} +xref: MedDRA:10045181 {source="Orphanet:881/e", source="Orphanet:881"} +xref: MESH:D014424 {source="Orphanet:881/e", source="MONDO:equivalentTo", source="Orphanet:881", source="DOID:3491"} xref: NCIT:C26900 {source="MONDO:equivalentTo", source="DOID:3491"} xref: NCIT:C34434 {source="DOID:3491"} xref: NCIT:C85210 {source="DOID:3491"} @@ -374770,7 +374608,7 @@ xref: SCTID:254279009 {source="DOID:3491"} xref: SCTID:268299006 {source="DOID:3491"} xref: SCTID:268356004 {source="DOID:3491"} xref: SCTID:38804009 {source="MONDO:equivalentTo", source="DOID:3491"} -xref: UMLS:C0041408 {source="MONDO:equivalentTo", source="GARD:0002458", source="NCIT:C26900", source="ORDO:881/e", source="Orphanet:881", source="DOID:3491"} +xref: UMLS:C0041408 {source="Orphanet:881/e", source="MONDO:equivalentTo", source="GARD:0002458", source="NCIT:C26900", source="Orphanet:881", source="DOID:3491"} xref: UMLS:C0242526 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:881"} xref: UMLS:C1527168 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3491"} is_a: MONDO:0001967 {source="DOID:3491", source="MESH:D014424", source="NCIT:C26900"} ! gonadal dysgenesis @@ -374792,11 +374630,11 @@ id: MONDO:0019500 name: extragonadal teratoma def: "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." [Orphanet:883] subset: ordo_disease {source="Orphanet:883"} -xref: MedDRA:10043276 {source="ORDO:883/e", source="Orphanet:883"} -xref: MESH:D013724 {source="MONDO:relatedTo", source="ORDO:883/e", source="Orphanet:883"} +xref: MedDRA:10043276 {source="Orphanet:883/e", source="Orphanet:883"} +xref: MESH:D013724 {source="MONDO:relatedTo", source="Orphanet:883/e", source="Orphanet:883"} xref: Orphanet:883 {source="MONDO:equivalentTo"} xref: SCTID:768937006 {source="MONDO:equivalentTo"} -xref: UMLS:C0039538 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:883/e", source="Orphanet:883"} +xref: UMLS:C0039538 {source="Orphanet:883/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:883"} is_a: MONDO:0020539 {source="Orphanet:883"} ! extragonadal non-dysgerminomatous germ cell tumor [Term] @@ -374813,30 +374651,30 @@ synonym: "ush" EXACT [Orphanet:886] synonym: "Usher's syndrome" EXACT [GARD:0007843] xref: DOID:0050439 {source="MONDO:equivalentTo"} xref: GARD:0007843 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:886", source="ORDO:886/attributed", source="ORDO:886/ntbt"} -xref: MedDRA:10063396 {source="Orphanet:886", source="ORDO:886/e"} -xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="DOID:0050439", source="ORDO:886/e"} +xref: ICD10CM:H35.5 {source="Orphanet:886/attributed", source="Orphanet:886/ntbt", source="MONDO:relatedTo", source="Orphanet:886"} +xref: MedDRA:10063396 {source="Orphanet:886", source="Orphanet:886/e"} +xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"} xref: NCIT:C85217 {source="MONDO:equivalentTo", source="DOID:0050439"} -xref: OMIM:276900 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:276901 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:276902 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:276904 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:500004 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:601067 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:602083 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:602097 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:605472 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:606943 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:611383 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:612632 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:614504 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:614869 {source="MONDO:superClassOf", source="ORDO:886/btnt"} -xref: OMIM:614990 {source="MONDO:superClassOf", source="ORDO:886/btnt"} +xref: OMIM:276900 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:276901 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:276902 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:276904 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:500004 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:601067 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:602083 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:602097 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:605472 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:606943 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:611383 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:612632 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:614504 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:614869 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} +xref: OMIM:614990 {source="Orphanet:886/btnt", source="MONDO:superClassOf"} xref: OMIMPS:276900 {source="MONDO:equivalentTo", source="DOID:0050439"} xref: Orphanet:886 {source="MONDO:equivalentTo", source="DOID:0050439"} xref: SCTID:57838006 {source="MONDO:superClassOf", source="DOID:0050439"} xref: SCTID:73119000 {source="DOID:0050439"} -xref: UMLS:C0271097 {source="NCIT:C85217", source="Orphanet:886", source="MONDO:equivalentTo", source="DOID:0050439", source="ORDO:886/e"} +xref: UMLS:C0271097 {source="NCIT:C85217", source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"} xref: UMLS:C1568248 {source="MONDO:superClassOf", source="DOID:0050439"} xref: UMLS:C1568249 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050439"} xref: UMLS:C2931205 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0050439"} @@ -374851,7 +374689,7 @@ relationship: has_modifier MONDO:0021152 {source="OMIMPS:276900"} ! inherited id: MONDO:0019502 name: autosomal recessive non-syndromic intellectual disability def: "Autosomal recessive form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_recessive] -comment: Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 +comment: Editor note: misclassified in Orphanet: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 synonym: "AR-NSID" EXACT [Orphanet:88616] synonym: "autosomal recessive intellectual disability" EXACT [DOID:0060308] synonym: "autosomal recessive mental retardation" EXACT DEPRECATED [DOID:0060308] @@ -374862,50 +374700,50 @@ synonym: "mental retardation, autosomal recessive" EXACT DEPRECATED [OMIMPS:2495 synonym: "non-syndromic intellectual disability, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "NS-ARID" EXACT [Orphanet:88616] xref: DOID:0060308 {source="MONDO:equivalentTo"} -xref: OMIM:249500 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:607417 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:608443 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611090 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611091 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611092 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611093 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611095 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611096 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611097 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:611107 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:613192 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:614020 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614202 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:614208 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614249 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614329 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614333 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614340 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614341 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614342 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614343 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614344 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614345 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614346 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614347 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:614499 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} +xref: OMIM:249500 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:607417 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:608443 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611090 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611091 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611092 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611093 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611095 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611096 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611097 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:611107 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:613192 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:614020 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614202 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:614208 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614249 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614329 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614333 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614340 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614341 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614342 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614343 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614344 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614345 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614346 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614347 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:614499 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} xref: OMIM:615493 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:0060308"} xref: OMIM:615516 {source="MONDO:superClassOf", source="DOID:0060308"} xref: OMIM:615541 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:0060308"} xref: OMIM:615599 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:0060308"} xref: OMIM:615637 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:615802 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:615817 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:615942 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308"} -xref: OMIM:615979 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:616116 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:616193 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:616459 {source="Orphanet:88616", source="MONDO:superClassOf", source="ORDO:88616/w"} -xref: OMIM:616460 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:616739 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:616887 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:617028 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} -xref: OMIM:617125 {source="ORDO:88616/btnt", source="Orphanet:88616", source="MONDO:superClassOf"} +xref: OMIM:615802 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:615817 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:615942 {source="Orphanet:88616", source="MONDO:superClassOf", source="DOID:0060308", source="Orphanet:88616/btnt"} +xref: OMIM:615979 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:616116 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:616193 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:616459 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/w"} +xref: OMIM:616460 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:616739 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:616887 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:617028 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} +xref: OMIM:617125 {source="Orphanet:88616", source="MONDO:superClassOf", source="Orphanet:88616/btnt"} xref: OMIM:617188 {source="Orphanet:88616", source="MONDO:superClassOf"} xref: OMIMPS:249500 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="MONDO:equivalentTo", source="DOID:0060308"} @@ -374931,9 +374769,9 @@ synonym: "ASOD" EXACT ABBREVIATION [GARD:0010025] synonym: "familial ocular anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025] synonym: "FOXE3-related ocular disorder" RELATED EXCLUDE [GARD:0010025] xref: GARD:0010025 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q13.8 {source="Orphanet:88632", source="ORDO:88632/attributed", source="ORDO:88632/ntbt"} +xref: ICD10CM:Q13.8 {source="Orphanet:88632", source="Orphanet:88632/attributed", source="Orphanet:88632/ntbt"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:107250 {source="Orphanet:88632", source="GARD:0010025", source="MONDO:superClassOf", source="ORDO:88632/e"} +xref: OMIM:107250 {source="Orphanet:88632", source="GARD:0010025", source="Orphanet:88632/e", source="MONDO:superClassOf"} xref: OMIM:617315 {source="Orphanet:88632", source="MONDO:superClassOf"} xref: OMIM:617319 {source="Orphanet:88632", source="MONDO:superClassOf"} xref: OMIMPS:107250 {source="MONDO:cjm", source="MONDO:equivalentTo"} @@ -374955,11 +374793,11 @@ synonym: "Theodore's syndrome" EXACT [Orphanet:88633] synonym: "Theodores superior limbic keratoconjunctivitis" RELATED [GARD:0010940] synonym: "Theodores syndrome" RELATED [GARD:0010940] xref: GARD:0010940 {source="MONDO:equivalentTo"} -xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:88633", source="ORDO:88633/ntbt"} +xref: ICD10CM:H16.2 {source="Orphanet:88633/ntbt", source="MONDO:relatedTo", source="Orphanet:88633"} xref: ICD9:370.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:88633 {source="MONDO:equivalentTo"} xref: SCTID:231903005 {source="MONDO:equivalentTo"} -xref: UMLS:C0339229 {source="Orphanet:88633", source="MONDO:equivalentTo", source="ORDO:88633/e"} +xref: UMLS:C0339229 {source="Orphanet:88633", source="MONDO:equivalentTo", source="Orphanet:88633/e"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis xsd:anyURI {source="GARD:0010940"} @@ -374969,15 +374807,15 @@ name: hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome def: "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." [Orphanet:88637] subset: ordo_disease {source="Orphanet:88637"} synonym: "4H syndrome" EXACT [Orphanet:88637] -xref: ICD10CM:G11.1 {source="Orphanet:88637", source="ORDO:88637/attributed", source="ORDO:88637/ntbt"} -xref: OMIM:607694 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:88637", source="ORDO:88637/ntbt"} -xref: OMIM:614381 {source="MONDO:superClassOf", source="Orphanet:88637", source="ORDO:88637/btnt"} -xref: OMIM:616494 {source="MONDO:superClassOf", source="Orphanet:88637", source="ORDO:88637/btnt"} +xref: ICD10CM:G11.1 {source="Orphanet:88637", source="Orphanet:88637/attributed", source="Orphanet:88637/ntbt"} +xref: OMIM:607694 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:88637", source="Orphanet:88637/ntbt"} +xref: OMIM:614381 {source="MONDO:superClassOf", source="Orphanet:88637", source="Orphanet:88637/btnt"} +xref: OMIM:616494 {source="MONDO:superClassOf", source="Orphanet:88637", source="Orphanet:88637/btnt"} xref: Orphanet:88637 {source="MONDO:equivalentTo"} xref: UMLS:C2676243 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88637"} xref: UMLS:CN206304 {source="MONDO:equivalentTo"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism -relationship: excluded_subClassOf MONDO:0011897 {source="ORDO:88637/ntbt", source="Orphanet:88637"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +relationship: excluded_subClassOf MONDO:0011897 {source="Orphanet:88637", source="Orphanet:88637/ntbt"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [Term] id: MONDO:0019506 @@ -374999,28 +374837,28 @@ subset: ordo_disease {source="Orphanet:88661"} xref: CSP:0828-0533 {source="DOID:2187"} xref: DOID:2187 {source="MONDO:equivalentTo"} xref: GARD:0005791 {source="MONDO:equivalentTo"} -xref: ICD10CM:K00.5 {source="DOID:2187", source="ORDO:88661/inclusion", source="ORDO:88661/ntbt", source="Orphanet:88661"} +xref: ICD10CM:K00.5 {source="DOID:2187", source="Orphanet:88661/ntbt", source="Orphanet:88661/inclusion", source="Orphanet:88661"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D000567 {source="DOID:2187", source="MONDO:equivalentTo", source="ORDO:88661/e", source="Orphanet:88661"} -xref: OMIM:104500 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:104510 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:104530 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:130900 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:204650 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:204700 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:301200 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:301201 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:612529 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:613211 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:614832 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:615887 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:616221 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:616270 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} -xref: OMIM:617217 {source="ORDO:88661/btnt", source="MONDO:superClassOf", source="Orphanet:88661"} +xref: MESH:D000567 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:equivalentTo", source="Orphanet:88661"} +xref: OMIM:104500 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:104510 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:104530 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:130900 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:204650 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:204700 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:301200 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:301201 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:612529 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:613211 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:614832 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:615887 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:616221 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:616270 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} +xref: OMIM:617217 {source="MONDO:superClassOf", source="Orphanet:88661/btnt", source="Orphanet:88661"} xref: OMIMPS:104500 {source="DOID:2187", source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:88661 {source="DOID:2187", source="MONDO:equivalentTo"} xref: SCTID:78494001 {source="DOID:2187", source="MONDO:equivalentTo"} -xref: UMLS:C0002452 {source="DOID:2187", source="MONDO:notFoundInDiseaseSubset", source="ORDO:88661/e", source="Orphanet:88661"} +xref: UMLS:C0002452 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:88661"} is_a: MONDO:0000001 {source="MONDO:0015603-obsoleted"} ! disease or disorder is_a: MONDO:0004038 {source="DOID:2187", source="MESH:D000567"} ! dental enamel hypoplasia relationship: has_modifier MONDO:0021152 {source="OMIMPS:104500"} ! inherited @@ -375039,17 +374877,17 @@ synonym: "LPS" RELATED ABBREVIATION [GARD:0008414] synonym: "VWS" EXACT ABBREVIATION [Orphanet:888] xref: DOID:0060239 {source="MONDO:equivalentTo"} xref: GARD:0008414 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q38.0 {source="Orphanet:888", source="DOID:0060239", source="ORDO:888/inclusion", source="ORDO:888/ntbt"} +xref: ICD10CM:Q38.0 {source="Orphanet:888/inclusion", source="Orphanet:888/ntbt", source="Orphanet:888", source="DOID:0060239"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536528 {source="ORDO:888/e", source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239"} +xref: MESH:C536528 {source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"} xref: MESH:C563529 {source="DOID:0060239"} xref: NCIT:C74986 {source="MONDO:equivalentTo", source="DOID:0060239"} -xref: OMIM:119300 {source="ORDO:888/e", source="Orphanet:888", source="MONDO:superClassOf", source="DOID:0060239"} -xref: OMIM:604547 {source="MONDO:relatedTo", source="Orphanet:888", source="ORDO:888/btnt"} -xref: OMIM:606713 {source="Orphanet:888", source="MONDO:superClassOf", source="DOID:0060239", source="ORDO:888/btnt"} +xref: OMIM:119300 {source="Orphanet:888", source="MONDO:superClassOf", source="DOID:0060239", source="Orphanet:888/e"} +xref: OMIM:604547 {source="Orphanet:888/btnt", source="MONDO:relatedTo", source="Orphanet:888"} +xref: OMIM:606713 {source="Orphanet:888/btnt", source="Orphanet:888", source="MONDO:superClassOf", source="DOID:0060239"} xref: Orphanet:888 {source="MONDO:equivalentTo", source="DOID:0060239"} xref: SCTID:79261008 {source="MONDO:equivalentTo", source="DOID:0060239"} -xref: UMLS:C0175697 {source="ORDO:888/e", source="NCIT:C74986", source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239"} +xref: UMLS:C0175697 {source="NCIT:C74986", source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"} xref: UMLS:C1834339 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060239"} is_a: MONDO:0002254 {source="DOID:0060239", source="NCIT:C74986"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:888", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -375070,7 +374908,7 @@ synonym: "cutaneous small-vessel vasculitis" EXACT [NCIT:C122919] synonym: "hypersensitivity angiitis" EXACT [Orphanet:889] synonym: "leukocytoclastic angiitis" RELATED [GARD:0007851] xref: GARD:0007851 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M31.0 {source="Orphanet:889", source="ORDO:889/ntbt"} +xref: ICD10CM:M31.0 {source="Orphanet:889/ntbt", source="Orphanet:889"} xref: NCIT:C122919 {source="MONDO:equivalentTo"} xref: Orphanet:889 {source="MONDO:equivalentTo"} xref: SCTID:718217000 {source="MONDO:equivalentTo"} @@ -375100,7 +374938,7 @@ synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations synonym: "UMOD-related ADTKD" EXACT [Orphanet:88950] synonym: "UMOD-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88950] xref: GARD:0010679 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q61.5 {source="Orphanet:88950", source="ORDO:88950/attributed", source="ORDO:88950/ntbt"} +xref: ICD10CM:Q61.5 {source="Orphanet:88950", source="Orphanet:88950/attributed", source="Orphanet:88950/ntbt"} xref: Orphanet:88950 {source="MONDO:equivalentTo"} xref: UMLS:CN206322 {source="MONDO:equivalentTo"} is_a: MONDO:0008264 {source="Orphanet:88950"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia @@ -375154,14 +374992,14 @@ synonym: "sinusoidal obstruction syndrome" EXACT [Orphanet:890] synonym: "veno-occlusive disease" EXACT [DOID:0080177] xref: DOID:0080177 {source="MONDO:equivalentTo"} xref: GARD:0013004 {source="MONDO:equivalentTo"} -xref: ICD10CM:K76.5 {source="DOID:0080177", source="MONDO:equivalentTo", source="ORDO:890/e", source="Orphanet:890"} +xref: ICD10CM:K76.5 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} xref: ICD9:453.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10047216 {source="ORDO:890/e", source="Orphanet:890"} -xref: MESH:D006504 {source="DOID:0080177", source="MONDO:equivalentTo", source="ORDO:890/e", source="Orphanet:890"} +xref: MedDRA:10047216 {source="Orphanet:890/e", source="Orphanet:890"} +xref: MESH:D006504 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} xref: NCIT:C26793 {source="MONDO:equivalentTo"} xref: Orphanet:890 {source="MONDO:equivalentTo"} xref: SCTID:65617004 {source="MONDO:equivalentTo"} -xref: UMLS:C0019156 {source="NCIT:C26793", source="MONDO:equivalentTo", source="ORDO:890/e", source="Orphanet:890"} +xref: UMLS:C0019156 {source="Orphanet:890/e", source="NCIT:C26793", source="MONDO:equivalentTo", source="Orphanet:890"} is_a: MONDO:0002405 {source="DOID:0080177", source="NCIT:C26793", source="linkedlifedata", source="linkedlifedata/inferred"} ! hepatic vascular disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease xsd:anyURI {source="GARD:0013004"} @@ -375191,17 +375029,17 @@ synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535] synonym: "FEVR" EXACT ABBREVIATION [DOID:0050535, Orphanet:891] xref: DOID:0050535 {source="MONDO:equivalentTo"} xref: GARD:0001613 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H35.0 {source="ORDO:891/inclusion", source="ORDO:891/ntbt", source="Orphanet:891"} +xref: ICD10CM:H35.0 {source="Orphanet:891/inclusion", source="Orphanet:891/ntbt", source="Orphanet:891"} xref: ICD10CM:H35.00 {source="DOID:0050535"} xref: ICD9:362.10 {source="DOID:0050535"} -xref: MESH:C536382 {source="MONDO:superClassOf", source="ORDO:891/e", source="Orphanet:891"} +xref: MESH:C536382 {source="Orphanet:891/e", source="MONDO:superClassOf", source="Orphanet:891"} xref: MESH:C580083 {source="MONDO:equivalentTo"} -xref: OMIM:133780 {source="ORDO:891/btnt", source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891"} -xref: OMIM:305390 {source="ORDO:891/btnt", source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891"} -xref: OMIM:601813 {source="ORDO:891/btnt", source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891"} -xref: OMIM:605750 {source="ORDO:891/btnt", source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891"} -xref: OMIM:613310 {source="ORDO:891/btnt", source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891"} -xref: OMIM:616468 {source="ORDO:891/btnt", source="MONDO:superClassOf", source="Orphanet:891"} +xref: OMIM:133780 {source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891/btnt", source="Orphanet:891"} +xref: OMIM:305390 {source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891/btnt", source="Orphanet:891"} +xref: OMIM:601813 {source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891/btnt", source="Orphanet:891"} +xref: OMIM:605750 {source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891/btnt", source="Orphanet:891"} +xref: OMIM:613310 {source="DOID:0050535", source="MONDO:superClassOf", source="Orphanet:891/btnt", source="Orphanet:891"} +xref: OMIM:616468 {source="MONDO:superClassOf", source="Orphanet:891/btnt", source="Orphanet:891"} xref: OMIMPS:133780 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:891 {source="DOID:0050535", source="MONDO:equivalentTo"} xref: SCTID:193355009 {source="DOID:0050535"} @@ -375209,8 +375047,8 @@ xref: SCTID:232063007 {source="MONDO:equivalentTo"} xref: SCTID:31411005 {source="DOID:0050535"} xref: SCTID:42873008 {source="DOID:0050535"} xref: UMLS:C0004608 {source="DOID:0050535", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0339539 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:891/e", source="Orphanet:891"} -xref: UMLS:C1851402 {source="MONDO:superClassOf", source="ORDO:891/e", source="Orphanet:891"} +xref: UMLS:C0339539 {source="Orphanet:891/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:891"} +xref: UMLS:C1851402 {source="Orphanet:891/e", source="MONDO:superClassOf", source="Orphanet:891"} xref: UMLS:C4072980 {source="MONDO:equivalentTo"} is_a: MONDO:0002311 {source="DOID:0050535"} ! retinal vascular disorder is_a: MONDO:0015953 {source="Orphanet:891"} ! genetic central nervous system and retinal vascular disease @@ -375232,16 +375070,16 @@ synonym: "WS 2" RELATED [GARD:0005520] synonym: "WS type 2" RELATED [GARD:0005520] synonym: "WS2" EXACT ABBREVIATION [Orphanet:895] xref: GARD:0005520 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="ORDO:895/attributed", source="ORDO:895/ntbt"} -xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="ORDO:895/e"} +xref: ICD10CM:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="Orphanet:895/attributed", source="Orphanet:895/ntbt"} +xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"} xref: NCIT:C75009 {source="MONDO:equivalentTo"} -xref: OMIM:193510 {source="Orphanet:895", source="MONDO:superClassOf", source="ORDO:895/e"} -xref: OMIM:600193 {source="Orphanet:895", source="MONDO:superClassOf", source="ORDO:895/btnt"} -xref: OMIM:606662 {source="Orphanet:895", source="MONDO:superClassOf", source="ORDO:895/btnt"} -xref: OMIM:608890 {source="Orphanet:895", source="MONDO:superClassOf", source="ORDO:895/btnt"} -xref: OMIM:611584 {source="Orphanet:895", source="MONDO:superClassOf", source="ORDO:895/btnt"} +xref: OMIM:193510 {source="Orphanet:895", source="MONDO:superClassOf", source="Orphanet:895/e"} +xref: OMIM:600193 {source="Orphanet:895", source="Orphanet:895/btnt", source="MONDO:superClassOf"} +xref: OMIM:606662 {source="Orphanet:895", source="Orphanet:895/btnt", source="MONDO:superClassOf"} +xref: OMIM:608890 {source="Orphanet:895", source="Orphanet:895/btnt", source="MONDO:superClassOf"} +xref: OMIM:611584 {source="Orphanet:895", source="Orphanet:895/btnt", source="MONDO:superClassOf"} xref: Orphanet:895 {source="MONDO:equivalentTo"} -xref: UMLS:C2700265 {source="NCIT:C75009", source="Orphanet:895", source="MONDO:equivalentTo", source="ORDO:895/e"} +xref: UMLS:C2700265 {source="NCIT:C75009", source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"} is_a: MONDO:0018094 {source="NCIT:C75009", source="Orphanet:895"} ! Waardenburg syndrome relationship: has_modifier HP:0000006 {source="Orphanet:895"} ! Autosomal dominant inheritance property_value: confidence "0.058201058201058364" xsd:double @@ -375262,11 +375100,11 @@ synonym: "Waardenburg-Hirschsprung syndrome" EXACT [GARD:0005524, Orphanet:897] synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842] synonym: "WS4" EXACT ABBREVIATION [Orphanet:897] xref: GARD:0005524 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:897", source="ORDO:897/attributed", source="ORDO:897/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:897/attributed", source="Orphanet:897/ntbt", source="Orphanet:897"} xref: NCIT:C124842 {source="MONDO:equivalentTo"} -xref: OMIM:277580 {source="GARD:0005524", source="Orphanet:897", source="MONDO:superClassOf", source="ORDO:897/btnt"} -xref: OMIM:613265 {source="GARD:0005524", source="Orphanet:897", source="MONDO:superClassOf", source="ORDO:897/btnt"} -xref: OMIM:613266 {source="GARD:0005524", source="Orphanet:897", source="MONDO:superClassOf", source="ORDO:897/btnt"} +xref: OMIM:277580 {source="GARD:0005524", source="Orphanet:897/btnt", source="Orphanet:897", source="MONDO:superClassOf"} +xref: OMIM:613265 {source="GARD:0005524", source="Orphanet:897/btnt", source="Orphanet:897", source="MONDO:superClassOf"} +xref: OMIM:613266 {source="GARD:0005524", source="Orphanet:897/btnt", source="Orphanet:897", source="MONDO:superClassOf"} xref: Orphanet:897 {source="GARD:0005524", source="MONDO:equivalentTo"} xref: UMLS:C1848519 {source="GARD:0005524", source="Orphanet:897", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3266898 {source="Orphanet:897", source="MONDO:notFoundInDiseaseSubset"} @@ -375318,7 +375156,7 @@ synonym: "centripetal dystrophic epidermolysis bullosa" EXACT [Orphanet:89841] synonym: "centripetal recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:89841] synonym: "RDEB, centripetalis" EXACT [Orphanet:89841] synonym: "RDEB-Ce" EXACT [Orphanet:89841] -xref: ICD10CM:Q81.2 {source="Orphanet:89841", source="ORDO:89841/attributed", source="ORDO:89841/ntbt"} +xref: ICD10CM:Q81.2 {source="Orphanet:89841", source="Orphanet:89841/attributed", source="Orphanet:89841/ntbt"} xref: Orphanet:89841 {source="MONDO:equivalentTo"} xref: SCTID:725419003 {source="MONDO:equivalentTo"} xref: UMLS:C4511056 {source="MONDO:equivalentTo"} @@ -375341,7 +375179,7 @@ synonym: "RDEB-O" EXACT [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] xref: GARD:0012794 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q81.2 {source="Orphanet:89842", source="ORDO:89842/attributed", source="ORDO:89842/ntbt"} +xref: ICD10CM:Q81.2 {source="Orphanet:89842", source="Orphanet:89842/attributed", source="Orphanet:89842/ntbt"} xref: Orphanet:89842 {source="MONDO:equivalentTo"} xref: UMLS:CN206337 {source="MONDO:equivalentTo"} is_a: MONDO:0006543 {source="Orphanet:89842"} ! epidermolysis bullosa dystrophica @@ -375364,9 +375202,9 @@ synonym: "Bartter syndrome type 4" EXACT [Orphanet:89938] synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938] synonym: "Bartter syndrome with sensorineural deafness" RELATED [GARD:0010508] xref: GARD:0010508 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E26.8 {source="ORDO:89938/attributed", source="ORDO:89938/ntbt", source="Orphanet:89938"} -xref: OMIM:602522 {source="ORDO:89938/btnt", source="MONDO:superClassOf", source="Orphanet:89938"} -xref: OMIM:613090 {source="ORDO:89938/btnt", source="MONDO:superClassOf", source="Orphanet:89938"} +xref: ICD10CM:E26.8 {source="Orphanet:89938", source="Orphanet:89938/attributed", source="Orphanet:89938/ntbt"} +xref: OMIM:602522 {source="MONDO:superClassOf", source="Orphanet:89938", source="Orphanet:89938/btnt"} +xref: OMIM:613090 {source="MONDO:superClassOf", source="Orphanet:89938", source="Orphanet:89938/btnt"} xref: Orphanet:89938 {source="MONDO:equivalentTo"} xref: SCTID:700112007 {source="MONDO:equivalentTo"} xref: UMLS:C3838860 {source="MONDO:equivalentTo"} @@ -375388,12 +375226,12 @@ synonym: "quadruple X" EXACT [Orphanet:9] synonym: "tetra X" EXACT [Orphanet:9] synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9] xref: GARD:0007754 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q97.1 {source="Orphanet:9", source="ORDO:9/attributed", source="ORDO:9/ntbt"} +xref: ICD10CM:Q97.1 {source="Orphanet:9/attributed", source="Orphanet:9/ntbt", source="Orphanet:9"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536502 {source="ORDO:9/e", source="Orphanet:9", source="MONDO:equivalentTo"} +xref: MESH:C536502 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"} xref: Orphanet:9 {source="MONDO:equivalentTo"} xref: SCTID:10567003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265496 {source="ORDO:9/e", source="Orphanet:9", source="MONDO:equivalentTo"} +xref: UMLS:C0265496 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"} is_a: MONDO:0019852 {source="Orphanet:9"} ! inherited primary ovarian failure is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human) @@ -375407,13 +375245,13 @@ subset: gard_rare {source="GARD:0008653"} subset: ordo_disease {source="Orphanet:90000"} xref: DOID:0060567 {source="MONDO:equivalentTo"} xref: GARD:0008653 {source="MONDO:equivalentTo"} -xref: ICD10CM:L95.1 {source="ORDO:90000/e", source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo"} +xref: ICD10CM:L95.1 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10056968 {source="ORDO:90000/e", source="Orphanet:90000"} -xref: MESH:C535509 {source="ORDO:90000/e", source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo"} +xref: MedDRA:10056968 {source="Orphanet:90000", source="Orphanet:90000/e"} +xref: MESH:C535509 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"} xref: Orphanet:90000 {source="DOID:0060567", source="MONDO:equivalentTo"} xref: SCTID:58872001 {source="MONDO:equivalentTo"} -xref: UMLS:C0263398 {source="ORDO:90000/e", source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo"} +xref: UMLS:C0263398 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"} is_a: MONDO:0015491 {source="Orphanet:90000"} ! immune complex mediated vasculitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum xsd:anyURI {source="GARD:0008653"} @@ -375424,12 +375262,12 @@ def: "An autoimmune disorder which does not meet classification criteria used to subset: ordo_disease {source="Orphanet:90002"} synonym: "UCTD" EXACT ABBREVIATION [Orphanet:90002] synonym: "undifferentiated connective tissue disease" EXACT [NCIT:C116776] -xref: ICD10CM:M35.8 {source="ORDO:90002/ntbt", source="Orphanet:90002"} -xref: MedDRA:10071575 {source="ORDO:90002/e", source="Orphanet:90002"} +xref: ICD10CM:M35.8 {source="Orphanet:90002", source="Orphanet:90002/ntbt"} +xref: MedDRA:10071575 {source="Orphanet:90002", source="Orphanet:90002/e"} xref: NCIT:C116776 {source="MONDO:equivalentTo"} xref: Orphanet:90002 {source="MONDO:equivalentTo"} xref: SCTID:239918008 {source="MONDO:equivalentTo"} -xref: UMLS:C0409999 {source="ORDO:90002/e", source="MONDO:equivalentTo", source="Orphanet:90002", source="NCIT:C116776"} +xref: UMLS:C0409999 {source="MONDO:equivalentTo", source="Orphanet:90002", source="NCIT:C116776", source="Orphanet:90002/e"} is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116776", source="indirect"} ! autoimmune disease [Term] @@ -375438,7 +375276,7 @@ name: IgG4-related hepatopathy def: "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion." [Orphanet:90003] subset: ordo_disease {source="Orphanet:90003"} synonym: "inflammatory pseudotumor of the liver" EXACT [Orphanet:90003] -xref: ICD10CM:K75.8 {source="ORDO:90003/ntbt", source="Orphanet:90003"} +xref: ICD10CM:K75.8 {source="Orphanet:90003", source="Orphanet:90003/ntbt"} xref: Orphanet:90003 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:90003"} ! IgG4-related disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015114"} ! rare @@ -375450,7 +375288,7 @@ def: "A disease characterized by white matter damage to the spinal cord develope subset: ordo_disease {source="Orphanet:90021"} synonym: "delayed radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/] synonym: "radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/] -xref: ICD10CM:G97.8 {source="Orphanet:90021", source="ORDO:90021/ntbt"} +xref: ICD10CM:G97.8 {source="Orphanet:90021/ntbt", source="Orphanet:90021"} xref: ICD9:336.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:90021 {source="MONDO:equivalentTo"} xref: SCTID:26037005 {source="MONDO:equivalentTo"} @@ -375470,17 +375308,17 @@ synonym: "symphalangism" RELATED [DOID:11193] synonym: "symphalangy" RELATED [DOID:11193] synonym: "syndactyly" RELATED [MONDO:ambiguous] synonym: "webbing of digits" RELATED [DOID:11193] -xref: ICD10CM:Q70.0 {source="ORDO:90025/specific", source="ORDO:90025/btnt"} -xref: ICD10CM:Q70.1 {source="ORDO:90025/specific", source="ORDO:90025/btnt"} -xref: ICD10CM:Q70.2 {source="ORDO:90025/specific", source="ORDO:90025/btnt"} -xref: ICD10CM:Q70.3 {source="ORDO:90025/specific", source="ORDO:90025/btnt"} -xref: ICD10CM:Q70.4 {source="ORDO:90025/specific", source="ORDO:90025/btnt"} -xref: ICD10CM:Q70.9 {source="ORDO:90025/specific", source="ORDO:90025/btnt"} -xref: MedDRA:10042778 {source="ORDO:90025/e"} -xref: MESH:D013576 {source="ORDO:90025/e"} +xref: ICD10CM:Q70.0 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} +xref: ICD10CM:Q70.1 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} +xref: ICD10CM:Q70.2 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} +xref: ICD10CM:Q70.3 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} +xref: ICD10CM:Q70.4 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} +xref: ICD10CM:Q70.9 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} +xref: MedDRA:10042778 {source="Orphanet:90025/e"} +xref: MESH:D013576 {source="Orphanet:90025/e"} xref: NCIT:C87125 {source="MONDO:equivalentTo"} xref: Orphanet:90025 {source="MONDO:equivalentTo", source="DOID:11193"} -xref: UMLS:C0039075 {source="MONDO:subClassOf", source="ORDO:90025/e", source="NCIT:C87125"} +xref: UMLS:C0039075 {source="MONDO:subClassOf", source="NCIT:C87125", source="Orphanet:90025/e"} is_a: MONDO:0019714 {source="Orphanet:90025"} ! non-syndromic polydactyly, syndactyly and/or hyperphalangy is_a: MONDO:0021002 ! syndactyly relationship: disease_has_feature HP:0001159 ! Syndactyly @@ -375494,7 +375332,7 @@ alt_id: MONDO:0032856 def: "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." [Orphanet:90030] subset: ordo_disease {source="Orphanet:90030"} synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] -xref: ICD10CM:D55.1 {source="Orphanet:90030", source="ORDO:90030/attributed", source="ORDO:90030/ntbt"} +xref: ICD10CM:D55.1 {source="Orphanet:90030/attributed", source="Orphanet:90030/ntbt", source="Orphanet:90030"} xref: OMIM:618660 {source="MONDO:equivalentTo"} xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"} is_a: MONDO:0003664 {source="Orphanet:90030"} ! hemolytic anemia @@ -375512,12 +375350,12 @@ synonym: "warm antibody autoimmune hemolytic anemia" RELATED [GARD:0007876] synonym: "warm antibody hemolytic anemia" RELATED [GARD:0007876] synonym: "warm-reacting-antibody hemolytic anemia" RELATED [GARD:0007876] xref: GARD:0007876 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D59.1 {source="Orphanet:90033", source="ORDO:90033/ntbt"} -xref: MedDRA:10047822 {source="ORDO:90033/e", source="Orphanet:90033"} +xref: ICD10CM:D59.1 {source="Orphanet:90033/ntbt", source="Orphanet:90033"} +xref: MedDRA:10047822 {source="Orphanet:90033", source="Orphanet:90033/e"} xref: NCIT:C162611 {source="MONDO:equivalentTo"} xref: Orphanet:90033 {source="MONDO:equivalentTo"} xref: SCTID:3978000 {source="MONDO:equivalentTo"} -xref: UMLS:C0272118 {source="ORDO:90033/e", source="Orphanet:90033", source="MONDO:equivalentTo"} +xref: UMLS:C0272118 {source="Orphanet:90033", source="MONDO:equivalentTo", source="Orphanet:90033/e"} is_a: MONDO:0020108 {source="Orphanet:90033"} ! autoimmune hemolytic anemia [Term] @@ -375530,12 +375368,12 @@ synonym: "Donath-Landsteiner syndrome" EXACT [Orphanet:90035] synonym: "hemoglobinuria paroxysmal cold" RELATED [GARD:0007335] synonym: "PCH" EXACT ABBREVIATION [Orphanet:90035] xref: GARD:0007335 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D59.6 {source="ORDO:90035/ntbt", source="Orphanet:90035"} -xref: MESH:C538618 {source="ORDO:90035/e", source="Orphanet:90035"} +xref: ICD10CM:D59.6 {source="Orphanet:90035", source="Orphanet:90035/ntbt"} +xref: MESH:C538618 {source="Orphanet:90035", source="Orphanet:90035/e"} xref: Orphanet:90035 {source="MONDO:equivalentTo"} xref: SCTID:127057004 {source="MONDO:equivalentTo"} xref: UMLS:C0086774 {source="Orphanet:90035", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0272129 {source="ORDO:90035/e", source="Orphanet:90035", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0272129 {source="Orphanet:90035", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90035/e"} is_a: MONDO:0016450 {source="Orphanet:90035"} ! autoimmune hemolytic anemia, cold type [Term] @@ -375544,7 +375382,7 @@ name: mixed-type autoimmune hemolytic anemia def: "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." [Orphanet:90036] subset: ordo_disease {source="Orphanet:90036"} synonym: "mixed AIHA" EXACT [Orphanet:90036] -xref: ICD10CM:D59.1 {source="ORDO:90036/ntbt", source="Orphanet:90036"} +xref: ICD10CM:D59.1 {source="Orphanet:90036", source="Orphanet:90036/ntbt"} xref: Orphanet:90036 {source="MONDO:equivalentTo"} xref: SCTID:718716008 {source="MONDO:equivalentTo"} xref: UMLS:C4305257 {source="MONDO:equivalentTo"} @@ -375556,10 +375394,10 @@ name: drug-induced autoimmune hemolytic anemia def: "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." [Orphanet:90037] subset: ordo_disease {source="Orphanet:90037"} synonym: "drug-induced AIHA" EXACT [Orphanet:90037] -xref: ICD10CM:D59.0 {source="ORDO:90037/ntbt", source="MONDO:equivalentTo", source="Orphanet:90037"} +xref: ICD10CM:D59.0 {source="MONDO:equivalentTo", source="Orphanet:90037", source="Orphanet:90037/ntbt"} xref: Orphanet:90037 {source="MONDO:equivalentTo"} xref: SCTID:309742004 {source="MONDO:equivalentTo"} -xref: UMLS:C0391817 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:90037/e", source="Orphanet:90037"} +xref: UMLS:C0391817 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90037", source="Orphanet:90037/e"} is_a: MONDO:0020108 {source="MONDO:Redundant", source="Orphanet:90037", source="linkedlifedata"} ! autoimmune hemolytic anemia intersection_of: MONDO:0020108 ! autoimmune hemolytic anemia intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug @@ -375577,8 +375415,8 @@ synonym: "Shiga-like toxin-associated HUS" EXACT [Orphanet:90038] synonym: "Sxt-HUS" EXACT [Orphanet:90038] synonym: "typical HUS" EXACT [Orphanet:90038] xref: GARD:0006241 {source="MONDO:equivalentTo"} -xref: ICD10CM:D59.3 {source="MONDO:subClassOf", source="ORDO:90038/e", source="Orphanet:90038"} -xref: OMIM:235400 {source="MONDO:subClassOf", source="ORDO:90038/ntbt", source="Orphanet:90038"} +xref: ICD10CM:D59.3 {source="MONDO:subClassOf", source="Orphanet:90038/e", source="Orphanet:90038"} +xref: OMIM:235400 {source="MONDO:subClassOf", source="Orphanet:90038/ntbt", source="Orphanet:90038"} xref: Orphanet:90038 {source="MONDO:equivalentTo"} xref: UMLS:CN206363 {source="MONDO:equivalentTo"} is_a: MONDO:0001549 ! hemolytic-uremic syndrome @@ -375595,13 +375433,13 @@ subset: ordo_disease {source="Orphanet:90039"} synonym: "Hb-D disease" EXACT [DOID:5378] synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344] xref: DOID:5378 {source="MONDO:equivalentTo"} -xref: ICD10CM:D58.2 {source="ORDO:90039/attributed", source="ORDO:90039/ntbt", source="DOID:5378", source="Orphanet:90039"} +xref: ICD10CM:D58.2 {source="DOID:5378", source="Orphanet:90039", source="Orphanet:90039/attributed", source="Orphanet:90039/ntbt"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10055019 {source="ORDO:90039/e", source="Orphanet:90039"} +xref: MedDRA:10055019 {source="Orphanet:90039/e", source="Orphanet:90039"} xref: NCIT:C35344 {source="DOID:5378", source="MONDO:equivalentTo"} xref: Orphanet:90039 {source="MONDO:equivalentTo"} xref: SCTID:66729008 {source="DOID:5378", source="MONDO:equivalentTo"} -xref: UMLS:C0272080 {source="DOID:5378", source="MONDO:equivalentTo", source="NCIT:C35344", source="ORDO:90039/e", source="Orphanet:90039"} +xref: UMLS:C0272080 {source="Orphanet:90039/e", source="DOID:5378", source="MONDO:equivalentTo", source="NCIT:C35344", source="Orphanet:90039"} is_a: MONDO:0002280 {source="Orphanet:90039", source="Orphanet:90039/inferred"} ! anemia is_a: MONDO:0019050 {source="DOID:5378", source="NCIT:C35344", source="Orphanet:90039", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy relationship: has_modifier MONDO:0021136 {source="MONDO:0015972"} ! rare @@ -375621,15 +375459,15 @@ synonym: "stress erythrocytosis" EXACT [Orphanet:90041] synonym: "stress polycythemia" EXACT [DOID:2838, MONDO:0002439, NCIT:C27174, Orphanet:90041] xref: DOID:2838 {source="MONDO:equivalentTo"} xref: GARD:0008402 {source="MONDO:equivalentTo"} -xref: ICD10CM:D75.1 {source="Orphanet:90041", source="ORDO:90041/ntbt", source="DOID:2838"} -xref: MedDRA:10042217 {source="Orphanet:90041", source="ORDO:90041/e"} -xref: MedDRA:10053885 {source="Orphanet:90041", source="ORDO:90041/e"} +xref: ICD10CM:D75.1 {source="Orphanet:90041/ntbt", source="Orphanet:90041", source="DOID:2838"} +xref: MedDRA:10042217 {source="Orphanet:90041", source="Orphanet:90041/e"} +xref: MedDRA:10053885 {source="Orphanet:90041", source="Orphanet:90041/e"} xref: NCIT:C27174 {source="MONDO:equivalentTo", source="DOID:2838"} xref: Orphanet:90041 {source="MONDO:equivalentTo"} xref: SCTID:191371001 {source="DOID:2838"} xref: SCTID:36874002 {source="MONDO:equivalentTo", source="DOID:2838"} -xref: UMLS:C0541719 {source="Orphanet:90041", source="MONDO:equivalentTo", source="ORDO:90041/e", source="DOID:2838"} -xref: UMLS:C2242785 {source="Orphanet:90041", source="MONDO:equivalentTo", source="ORDO:90041/e"} +xref: UMLS:C0541719 {source="Orphanet:90041", source="MONDO:equivalentTo", source="Orphanet:90041/e", source="DOID:2838"} +xref: UMLS:C2242785 {source="Orphanet:90041", source="MONDO:equivalentTo", source="Orphanet:90041/e"} xref: UMLS:CN206365 {source="MONDO:equivalentTo"} is_a: MONDO:0016541 {source="MONDO:Redundant", source="Orphanet:90041"} ! acquired secondary polycythemia is_a: MONDO:0020115 {source="NCIT:C27174", source="Orphanet:90041/inferred"} ! secondary polycythemia @@ -375647,7 +375485,7 @@ subset: ordo_clinical_situation {source="Orphanet:90060"} synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous] synonym: "diffuse alveolar hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0025420 {source="MONDO:otherHierarchy"} -xref: ICD10CM:J98.4 {source="ORDO:90060/ntbt", source="Orphanet:90060"} +xref: ICD10CM:J98.4 {source="Orphanet:90060/ntbt", source="Orphanet:90060"} xref: Orphanet:90060 {source="MONDO:equivalentTo"} xref: UMLS:CN206369 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="Orphanet:90060"} ! respiratory system disorder @@ -375659,8 +375497,8 @@ name: non-infectious posterior uveitis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90061"} synonym: "non-infectious choroiditis" EXACT [Orphanet:90061] -xref: ICD10CM:H30.0 {source="Orphanet:90061", source="ORDO:90061/ntbt"} -xref: ICD10CM:H30.1 {source="Orphanet:90061", source="ORDO:90061/ntbt"} +xref: ICD10CM:H30.0 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} +xref: ICD10CM:H30.1 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: Orphanet:90061 {source="MONDO:equivalentTo"} is_a: MONDO:0001280 {source="Orphanet:90061"} ! choroiditis @@ -375671,13 +375509,13 @@ def: "Rapid deterioration of liver function causing encephalopathy and coagulopa subset: ordo_clinical_situation {source="Orphanet:90062"} synonym: "acute hepatic failure" EXACT [Orphanet:90062] synonym: "fulminant hepatic failure" EXACT [Orphanet:90062] -xref: ICD10CM:K72.0 {source="Orphanet:90062", source="ORDO:90062/ntbt"} -xref: MedDRA:10000804 {source="Orphanet:90062", source="ORDO:90062/e"} -xref: MESH:D017114 {source="Orphanet:90062", source="MONDO:equivalentTo", source="ORDO:90062/e"} +xref: ICD10CM:K72.0 {source="Orphanet:90062", source="Orphanet:90062/ntbt"} +xref: MedDRA:10000804 {source="Orphanet:90062", source="Orphanet:90062/e"} +xref: MESH:D017114 {source="Orphanet:90062", source="MONDO:equivalentTo", source="Orphanet:90062/e"} xref: NCIT:C84396 {source="MONDO:equivalentTo"} xref: Orphanet:90062 {source="MONDO:equivalentTo"} xref: SCTID:197270009 {source="MONDO:equivalentTo"} -xref: UMLS:C0162557 {source="Orphanet:90062", source="MONDO:equivalentTo", source="NCIT:C84396", source="ORDO:90062/e"} +xref: UMLS:C0162557 {source="Orphanet:90062", source="MONDO:equivalentTo", source="Orphanet:90062/e", source="NCIT:C84396"} is_a: MONDO:0100192 {source="https://github.com/monarch-initiative/mondo/pull/1871"} ! liver failure intersection_of: MONDO:0100192 ! liver failure intersection_of: has_modifier PATO:0000389 ! acute @@ -375688,7 +375526,7 @@ id: MONDO:0019543 name: acquired aneurysmal subarachnoid hemorrhage def: "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." [Orphanet:90065] subset: ordo_clinical_situation {source="Orphanet:90065"} -xref: ICD10CM:I60.9 {source="Orphanet:90065", source="ORDO:90065/ntbt"} +xref: ICD10CM:I60.9 {source="Orphanet:90065/ntbt", source="Orphanet:90065"} xref: Orphanet:90065 {source="MONDO:equivalentTo"} xref: UMLS:CN206370 {source="MONDO:equivalentTo"} is_a: MONDO:0005099 ! subarachnoid hemorrhage @@ -375700,7 +375538,7 @@ relationship: has_modifier MONDO:0021141 ! acquired id: MONDO:0019544 name: cocaine intoxication subset: ordo_disease {source="Orphanet:90068"} -xref: ICD10CM:T40.5 {source="ORDO:90068/e", source="Orphanet:90068"} +xref: ICD10CM:T40.5 {source="Orphanet:90068", source="Orphanet:90068/e"} xref: ICD9:292.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:90068 {source="MONDO:equivalentTo"} xref: SCTID:27956007 {source="MONDO:equivalentTo"} @@ -375714,7 +375552,7 @@ id: MONDO:0019545 name: systemic monochloroacetate poisoning def: "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." [Orphanet:90069] subset: ordo_disease {source="Orphanet:90069"} -xref: ICD10CM:T60.3 {source="ORDO:90069/ntbt", source="Orphanet:90069"} +xref: ICD10CM:T60.3 {source="Orphanet:90069", source="Orphanet:90069/ntbt"} xref: Orphanet:90069 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="Orphanet:90069"} ! poisoning intersection_of: MONDO:0029000 ! poisoning @@ -375744,12 +375582,12 @@ synonym: "bullous cellulitis with eosinophilia" RELATED [GARD:0000329] synonym: "eosinophilic cellulitis" EXACT [Orphanet:901] synonym: "Wells' syndrome" RELATED [GARD:0000329] xref: GARD:0000329 {source="MONDO:equivalentTo"} -xref: ICD10CM:L98.3 {source="ORDO:901/e", source="Orphanet:901"} +xref: ICD10CM:L98.3 {source="Orphanet:901", source="Orphanet:901/e"} xref: ICD9:682.9 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C536693 {source="ORDO:901/e", source="MONDO:equivalentTo", source="Orphanet:901"} +xref: MESH:C536693 {source="MONDO:equivalentTo", source="Orphanet:901", source="Orphanet:901/e"} xref: Orphanet:901 {source="MONDO:equivalentTo"} xref: SCTID:238931006 {source="MONDO:equivalentTo"} -xref: UMLS:C0343101 {source="ORDO:901/e", source="MONDO:equivalentTo", source="Orphanet:901"} +xref: UMLS:C0343101 {source="MONDO:equivalentTo", source="Orphanet:901", source="Orphanet:901/e"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/329/wells-syndrome xsd:anyURI {source="GARD:0000329"} @@ -375764,7 +375602,7 @@ synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT [] synonym: "CMTDI" EXACT ABBREVIATION [Orphanet:90114] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:0012436 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G60.0 {source="ORDO:90114/ntbt", source="Orphanet:90114", source="ORDO:90114/inclusion"} +xref: ICD10CM:G60.0 {source="Orphanet:90114/inclusion", source="Orphanet:90114", source="Orphanet:90114/ntbt"} xref: Orphanet:90114 {source="MONDO:equivalentTo"} xref: UMLS:CN206376 {source="MONDO:equivalentTo"} is_a: MONDO:0018778 {source="MONDO:Redundant", source="Orphanet:90114"} ! intermediate Charcot-Marie-Tooth disease @@ -375779,7 +375617,7 @@ subset: ordo_disease {source="Orphanet:90118"} synonym: "AR-CMT2, Ouvrier type" EXACT [Orphanet:90118] synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [Orphanet:90118] synonym: "SEOAN due to MFN2 deficiency" EXACT [Orphanet:90118] -xref: ICD10CM:G60.0 {source="ORDO:90118/attributed", source="ORDO:90118/ntbt", source="Orphanet:90118"} +xref: ICD10CM:G60.0 {source="Orphanet:90118/attributed", source="Orphanet:90118/ntbt", source="Orphanet:90118"} xref: Orphanet:90118 {source="MONDO:equivalentTo"} xref: SCTID:766977007 {source="MONDO:equivalentTo"} xref: UMLS:CN206378 {source="MONDO:equivalentTo"} @@ -375794,7 +375632,7 @@ synonym: "AR-CMT2 with acrodystrophy" EXACT [Orphanet:90119] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy" EXACT [Orphanet:90119] synonym: "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy" EXACT [Orphanet:90119] synonym: "HMSN with acrodystrophy" EXACT [Orphanet:90119] -xref: ICD10CM:G60.0 {source="ORDO:90119/attributed", source="ORDO:90119/ntbt", source="Orphanet:90119"} +xref: ICD10CM:G60.0 {source="Orphanet:90119/attributed", source="Orphanet:90119/ntbt", source="Orphanet:90119"} xref: Orphanet:90119 {source="MONDO:equivalentTo"} xref: UMLS:CN206379 {source="MONDO:equivalentTo"} is_a: MONDO:0019601 {source="Orphanet:90119"} ! autosomal recessive axonal hereditary motor and sensory neuropathy @@ -375808,9 +375646,9 @@ synonym: "CMT6" EXACT ABBREVIATION [Orphanet:90120] synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068] synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120] xref: DOID:0080068 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:90120", source="ORDO:90120/attributed", source="ORDO:90120/ntbt"} -xref: OMIM:601152 {source="ORDO:90120/e", source="DOID:0080068", source="Orphanet:90120", source="MONDO:superClassOf"} -xref: OMIM:616505 {source="DOID:0080068", source="Orphanet:90120", source="MONDO:superClassOf", source="ORDO:90120/btnt"} +xref: ICD10CM:G60.0 {source="Orphanet:90120/attributed", source="Orphanet:90120/ntbt", source="Orphanet:90120"} +xref: OMIM:601152 {source="DOID:0080068", source="Orphanet:90120", source="MONDO:superClassOf", source="Orphanet:90120/e"} +xref: OMIM:616505 {source="Orphanet:90120/btnt", source="DOID:0080068", source="Orphanet:90120", source="MONDO:superClassOf"} xref: Orphanet:90120 {source="MONDO:equivalentTo"} xref: UMLS:C0393807 {source="Orphanet:90120", source="MONDO:equivalentTo"} is_a: MONDO:0018775 {source="MONDO:cjm"} ! axonal hereditary motor and sensory neuropathy @@ -375822,7 +375660,7 @@ name: centrifugal lipodystrophy def: "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." [Orphanet:90156] subset: ordo_disease {source="Orphanet:90156"} synonym: "lipodystrophia centrifugalis abdominalis infantilis" EXACT [Orphanet:90156] -xref: ICD10CM:E88.1 {source="ORDO:90156/ntbt", source="Orphanet:90156"} +xref: ICD10CM:E88.1 {source="Orphanet:90156", source="Orphanet:90156/ntbt"} xref: Orphanet:90156 {source="MONDO:equivalentTo"} is_a: MONDO:0019194 {source="Orphanet:90156"} ! localized lipodystrophy @@ -375832,7 +375670,7 @@ name: drug-induced localized lipodystrophy def: "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present." [Orphanet:90157] subset: ordo_disease {source="Orphanet:90157"} synonym: "lipoatrophy caused by injected drug" EXACT [Orphanet:90157] -xref: ICD10CM:E88.1 {source="ORDO:90157/ntbt", source="Orphanet:90157"} +xref: ICD10CM:E88.1 {source="Orphanet:90157", source="Orphanet:90157/ntbt"} xref: Orphanet:90157 {source="MONDO:equivalentTo"} xref: SCTID:403661001 {source="MONDO:equivalentTo"} xref: UMLS:CN227649 {source="MONDO:equivalentTo"} @@ -375845,7 +375683,7 @@ id: MONDO:0019554 name: idiopathic localized lipodystrophy def: "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." [Orphanet:90158] subset: ordo_disease {source="Orphanet:90158"} -xref: ICD10CM:E88.1 {source="ORDO:90158/ntbt", source="Orphanet:90158"} +xref: ICD10CM:E88.1 {source="Orphanet:90158", source="Orphanet:90158/ntbt"} xref: Orphanet:90158 {source="MONDO:equivalentTo"} xref: UMLS:CN227650 {source="MONDO:equivalentTo"} is_a: MONDO:0019194 {source="Orphanet:90158"} ! localized lipodystrophy @@ -375857,7 +375695,7 @@ id: MONDO:0019555 name: panniculitis and localized lipodystrophy subset: ordo_disease {source="Orphanet:90159"} synonym: "panniculitis-induced localized lipodystrophy" RELATED [Orphanet:90159] -xref: ICD10CM:E88.1 {source="ORDO:90159/ntbt", source="Orphanet:90159"} +xref: ICD10CM:E88.1 {source="Orphanet:90159/ntbt", source="Orphanet:90159"} xref: Orphanet:90159 {source="MONDO:equivalentTo"} xref: UMLS:CN227651 {source="MONDO:equivalentTo"} is_a: MONDO:0019194 {source="MONDO:Redundant", source="Orphanet:90159"} ! localized lipodystrophy @@ -375871,7 +375709,7 @@ def: "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipo subset: ordo_disease {source="Orphanet:90160"} synonym: "lipoatrophia semicircularis" EXACT [Orphanet:90160] synonym: "semicircular lipoatrophy" EXACT [Orphanet:90160] -xref: ICD10CM:E88.1 {source="Orphanet:90160", source="ORDO:90160/ntbt"} +xref: ICD10CM:E88.1 {source="Orphanet:90160", source="Orphanet:90160/ntbt"} xref: Orphanet:90160 {source="MONDO:equivalentTo"} xref: SCTID:238898001 {source="MONDO:equivalentTo"} xref: UMLS:CN227652 {source="MONDO:equivalentTo"} @@ -375886,16 +375724,16 @@ subset: ordo_disease {source="Orphanet:90280"} synonym: "CHLE" EXACT ABBREVIATION [PMID:11176709] synonym: "Hutchinson lupus" EXACT [PMID:11176709] xref: DOID:0060386 {source="MONDO:equivalentTo"} -xref: ICD10CM:L93.2 {source="ORDO:90280/attributed", source="ORDO:90280/ntbt", source="Orphanet:90280"} -xref: MedDRA:10025141 {source="ORDO:90280/e", source="Orphanet:90280"} -xref: MESH:C535924 {source="DOID:0060386", source="ORDO:90280/e", source="Orphanet:90280"} -xref: OMIM:610448 {source="DOID:0060386", source="MONDO:superClassOf", source="ORDO:90280/e", source="Orphanet:90280"} -xref: OMIM:614415 {source="DOID:0060386", source="MONDO:superClassOf", source="ORDO:90280/btnt", source="Orphanet:90280"} +xref: ICD10CM:L93.2 {source="Orphanet:90280/attributed", source="Orphanet:90280/ntbt", source="Orphanet:90280"} +xref: MedDRA:10025141 {source="Orphanet:90280/e", source="Orphanet:90280"} +xref: MESH:C535924 {source="DOID:0060386", source="Orphanet:90280/e", source="Orphanet:90280"} +xref: OMIM:610448 {source="DOID:0060386", source="Orphanet:90280/e", source="MONDO:superClassOf", source="Orphanet:90280"} +xref: OMIM:614415 {source="DOID:0060386", source="MONDO:superClassOf", source="Orphanet:90280/btnt", source="Orphanet:90280"} xref: Orphanet:90280 {source="DOID:0060386", source="MONDO:equivalentTo"} xref: SCTID:11361009 {source="DOID:0060386"} xref: SCTID:238928005 {source="DOID:0060386"} xref: SCTID:72470008 {source="DOID:0060386"} -xref: UMLS:C0024145 {source="DOID:0060386", source="MONDO:equivalentTo", source="ORDO:90280/e", source="Orphanet:90280"} +xref: UMLS:C0024145 {source="DOID:0060386", source="Orphanet:90280/e", source="MONDO:equivalentTo", source="Orphanet:90280"} xref: UMLS:CN239336 {source="MONDO:equivalentTo"} is_a: MONDO:0015574 {source="Orphanet:90280"} ! chronic cutaneous lupus erythematosus is_a: MONDO:0019293 {source="Orphanet:90280"} ! skin vascular disease @@ -375907,13 +375745,13 @@ name: discoid lupus erythematosus def: "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." [NCIT:C26820] subset: ordo_disease {source="Orphanet:90281"} synonym: "DLE" EXACT ABBREVIATION [NCIT:C26820] -xref: ICD10CM:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="ORDO:90281/e"} -xref: MedDRA:10013072 {source="Orphanet:90281", source="ORDO:90281/e"} -xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="ORDO:90281/e"} +xref: ICD10CM:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} +xref: MedDRA:10013072 {source="Orphanet:90281", source="Orphanet:90281/e"} +xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} xref: NCIT:C26820 {source="MONDO:equivalentTo"} xref: Orphanet:90281 {source="MONDO:equivalentTo"} xref: SCTID:200938002 {source="MONDO:equivalentTo"} -xref: UMLS:C0024138 {source="Orphanet:90281", source="MONDO:equivalentTo", source="NCIT:C26820", source="ORDO:90281/e"} +xref: UMLS:C0024138 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e", source="NCIT:C26820"} is_a: MONDO:0005282 {source="MESH:D008179", source="MONDO:Redundant", source="NCIT:C26820", source="indirect", source="linkedlifedata"} ! cutaneous lupus erythematosus is_a: MONDO:0015574 {source="Orphanet:90281"} ! chronic cutaneous lupus erythematosus @@ -375921,7 +375759,7 @@ is_a: MONDO:0015574 {source="Orphanet:90281"} ! chronic cutaneous lupus erythema id: MONDO:0019559 name: hypertrophic or verrucous lupus erythematosus subset: ordo_disease {source="Orphanet:90282"} -xref: ICD10CM:L93.2 {source="Orphanet:90282", source="ORDO:90282/ntbt"} +xref: ICD10CM:L93.2 {source="Orphanet:90282", source="Orphanet:90282/ntbt"} xref: Orphanet:90282 {source="MONDO:equivalentTo"} xref: UMLS:CN227653 {source="MONDO:equivalentTo"} is_a: MONDO:0015574 {source="Orphanet:90282"} ! chronic cutaneous lupus erythematosus @@ -375936,11 +375774,11 @@ synonym: "intermittent cutaneous lupus" EXACT [Orphanet:90283] synonym: "let" EXACT [NCIT:C117112] synonym: "tumid lupus erythematosus" RELATED [GARD:0013003] xref: GARD:0013003 {source="MONDO:equivalentTo"} -xref: ICD10CM:L93.2 {source="Orphanet:90283", source="ORDO:90283/ntbt"} +xref: ICD10CM:L93.2 {source="Orphanet:90283/ntbt", source="Orphanet:90283"} xref: NCIT:C117112 {source="MONDO:equivalentTo"} xref: Orphanet:90283 {source="MONDO:equivalentTo"} xref: SCTID:200941006 {source="MONDO:equivalentTo"} -xref: UMLS:C0406636 {source="NCIT:C117112", source="Orphanet:90283", source="MONDO:equivalentTo", source="ORDO:90283/e"} +xref: UMLS:C0406636 {source="NCIT:C117112", source="Orphanet:90283", source="MONDO:equivalentTo", source="Orphanet:90283/e"} is_a: MONDO:0005282 {source="MONDO:Redundant", source="NCIT:C117112", source="indirect", source="linkedlifedata"} ! cutaneous lupus erythematosus is_a: MONDO:0015574 {source="Orphanet:90283"} ! chronic cutaneous lupus erythematosus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus xsd:anyURI {source="GARD:0013003"} @@ -375953,12 +375791,12 @@ subset: ordo_disease {source="Orphanet:90285"} synonym: "lupus erythematosus profundus" EXACT [Orphanet:90285] synonym: "lupus panniculitis" EXACT [NCIT:C82884] synonym: "lupus profundus" EXACT [NCIT:C82884] -xref: ICD10CM:L93.2 {source="Orphanet:90285", source="ORDO:90285/ntbt"} -xref: MESH:D015435 {source="ORDO:90285/e", source="Orphanet:90285", source="MONDO:equivalentTo"} +xref: ICD10CM:L93.2 {source="Orphanet:90285/ntbt", source="Orphanet:90285"} +xref: MESH:D015435 {source="Orphanet:90285", source="MONDO:equivalentTo", source="Orphanet:90285/e"} xref: NCIT:C82884 {source="MONDO:equivalentTo"} xref: Orphanet:90285 {source="MONDO:equivalentTo"} xref: SCTID:15084002 {source="MONDO:equivalentTo"} -xref: UMLS:C0030327 {source="ORDO:90285/e", source="Orphanet:90285", source="MONDO:equivalentTo"} +xref: UMLS:C0030327 {source="Orphanet:90285", source="MONDO:equivalentTo", source="Orphanet:90285/e"} is_a: MONDO:0006591 {source="MESH:D015435"} ! panniculitis is_a: MONDO:0015574 {source="Orphanet:90285"} ! chronic cutaneous lupus erythematosus @@ -375978,10 +375816,10 @@ synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472] synonym: "Scleroderma, localized" RELATED [GARD:0007058] xref: DOID:8472 {source="MONDO:equivalentTo"} xref: GARD:0007058 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:L94.0 {source="ORDO:90289/e", source="Orphanet:90289", source="DOID:8472"} +xref: ICD10CM:L94.0 {source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"} xref: ICD9:701.0 {source="MONDO:equivalentTo", source="i2s", source="DOID:8472"} -xref: MedDRA:10039712 {source="ORDO:90289/e", source="Orphanet:90289"} -xref: MESH:D012594 {source="ORDO:90289/e", source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472"} +xref: MedDRA:10039712 {source="Orphanet:90289", source="Orphanet:90289/e"} +xref: MESH:D012594 {source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"} xref: NCIT:C72069 {source="MONDO:equivalentTo", source="DOID:8472"} xref: Orphanet:90289 {source="MONDO:equivalentTo"} xref: SCTID:201046006 {source="DOID:8472"} @@ -375989,7 +375827,7 @@ xref: SCTID:201047002 {source="DOID:8472"} xref: SCTID:201048007 {source="MONDO:equivalentTo", source="DOID:8472"} xref: SCTID:201052007 {source="DOID:8472"} xref: SCTID:90424004 {source="DOID:8472"} -xref: UMLS:C0036420 {source="ORDO:90289/e", source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="NCIT:C72069"} +xref: UMLS:C0036420 {source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="NCIT:C72069", source="Orphanet:90289/e"} is_a: MONDO:0019340 {source="DOID:8472", source="NCIT:C72069", source="Orphanet:90289"} ! scleroderma [Term] @@ -376011,17 +375849,17 @@ synonym: "phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud" RELATED [ synonym: "syndrome, CREST" RELATED [MESH:D017675] xref: DOID:0060218 {source="MONDO:equivalentTo"} xref: GARD:0012430 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M34.1 {source="ORDO:90290/e", source="DOID:0060218", source="Orphanet:90290"} -xref: MedDRA:10011380 {source="ORDO:90290/e", source="Orphanet:90290"} -xref: MESH:D017675 {source="MONDO:equivalentTo", source="ORDO:90290/e", source="DOID:0060218", source="Orphanet:90290"} +xref: ICD10CM:M34.1 {source="Orphanet:90290/e", source="DOID:0060218", source="Orphanet:90290"} +xref: MedDRA:10011380 {source="Orphanet:90290/e", source="Orphanet:90290"} +xref: MESH:D017675 {source="Orphanet:90290/e", source="MONDO:equivalentTo", source="DOID:0060218", source="Orphanet:90290"} xref: NCIT:C70646 {source="MONDO:equivalentTo", source="DOID:0060218"} -xref: OMIM:181750 {source="MONDO:subClassOf", source="ORDO:90290/ntbt", source="MONDO:directSiblingOf", source="Orphanet:90290"} +xref: OMIM:181750 {source="MONDO:subClassOf", source="Orphanet:90290/ntbt", source="MONDO:directSiblingOf", source="Orphanet:90290"} xref: Orphanet:90290 {source="MONDO:equivalentTo"} xref: SCTID:156453002 {source="DOID:0060218"} xref: SCTID:201442004 {source="DOID:0060218"} xref: SCTID:31848007 {source="MONDO:equivalentTo", source="DOID:0060218"} xref: SCTID:62382002 {source="DOID:0060218"} -xref: UMLS:C0206138 {source="NCIT:C70646", source="MONDO:equivalentTo", source="ORDO:90290/e", source="DOID:0060218", source="Orphanet:90290"} +xref: UMLS:C0206138 {source="NCIT:C70646", source="Orphanet:90290/e", source="MONDO:equivalentTo", source="DOID:0060218", source="Orphanet:90290"} xref: UMLS:C1527226 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060218"} is_a: MONDO:0002254 {source="DOID:0060218", source="NCIT:C70646"} ! syndromic disease is_a: MONDO:0005100 {source="MESH:D017675/inferred", source="Orphanet:90290", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! systemic sclerosis @@ -376053,23 +375891,23 @@ synonym: "von Willebrand-Jrgens disease" EXACT [DOID:12531] synonym: "von Willebrand-Jurgens disease" BROAD [DOID:12531] xref: DOID:12531 {source="MONDO:equivalentTo"} xref: GARD:0007867 {source="MONDO:equivalentTo"} -xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="ORDO:903/specific", source="ORDO:903/e", source="Orphanet:903", source="DOID:12531"} +xref: ICD10CM:D68.0 {source="MONDO:subClassOf", source="Orphanet:903/specific", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/e"} xref: ICD10CM:D69.8 {source="DOID:12531"} xref: ICD9:286.4 {source="MONDO:subClassOf", source="DOID:12531"} -xref: MedDRA:10047715 {source="ORDO:903/e", source="Orphanet:903"} +xref: MedDRA:10047715 {source="Orphanet:903", source="Orphanet:903/e"} xref: MESH:C531844 {source="MONDO:equivalentTo"} -xref: MESH:D014842 {source="MONDO:subClassOf", source="ORDO:903/e", source="Orphanet:903", source="DOID:12531"} +xref: MESH:D014842 {source="MONDO:subClassOf", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/e"} xref: NCIT:C68677 {source="MONDO:subClassOf", source="DOID:12531"} -xref: OMIM:193400 {source="MONDO:superClassOf", source="ORDO:903/btnt", source="Orphanet:903", source="DOID:12531"} -xref: OMIM:277480 {source="MONDO:superClassOf", source="ORDO:903/btnt", source="Orphanet:903", source="DOID:12531"} -xref: OMIM:314560 {source="MONDO:superClassOf", source="ORDO:903/btnt", source="Orphanet:903"} -xref: OMIM:613554 {source="MONDO:superClassOf", source="ORDO:903/btnt", source="Orphanet:903", source="DOID:12531"} +xref: OMIM:193400 {source="MONDO:superClassOf", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/btnt"} +xref: OMIM:277480 {source="MONDO:superClassOf", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/btnt"} +xref: OMIM:314560 {source="MONDO:superClassOf", source="Orphanet:903", source="Orphanet:903/btnt"} +xref: OMIM:613554 {source="MONDO:superClassOf", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/btnt"} xref: Orphanet:903 {source="MONDO:equivalentTo"} xref: SCTID:11093006 {source="DOID:12531"} xref: SCTID:128105004 {source="MONDO:subClassOf", source="DOID:12531"} xref: SCTID:154819009 {source="DOID:12531"} xref: SCTID:234446004 {source="MONDO:equivalentTo"} -xref: UMLS:C0042974 {source="ORDO:903/e", source="MONDO:equivalentTo", source="Orphanet:903", source="NCIT:C68677", source="DOID:12531"} +xref: UMLS:C0042974 {source="MONDO:equivalentTo", source="Orphanet:903", source="NCIT:C68677", source="DOID:12531", source="Orphanet:903/e"} is_a: MONDO:0001531 {source="DOID:12531/inferred", source="MESH:C531844/inferred", source="NCIT:C68677", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease @@ -376096,13 +375934,13 @@ synonym: "Ehlers-Danlos syndrome, type 1" EXACT [DOID:14720] synonym: "Ehlers-Danlos syndrome, type I" EXACT [NCIT:C125696] synonym: "type I Ehlers-Danlos syndrome" EXACT [DOID:14720] xref: DOID:14720 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:90309", source="ORDO:90309/attributed", source="ORDO:90309/ntbt"} -xref: MESH:C536194 {source="Orphanet:90309", source="MONDO:equivalentTo", source="DOID:14720", source="ORDO:90309/e"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:90309", source="Orphanet:90309/attributed", source="Orphanet:90309/ntbt"} +xref: MESH:C536194 {source="Orphanet:90309", source="MONDO:equivalentTo", source="Orphanet:90309/e", source="DOID:14720"} xref: NCIT:C125696 {source="MONDO:equivalentTo"} xref: OMIM:130000 {source="MONDO:equivalentTo", source="OMIM:130000"} xref: Orphanet:90309 {source="MONDO:equivalentObsolete"} xref: SCTID:83470009 {source="MONDO:equivalentTo", source="DOID:14720"} -xref: UMLS:C0268335 {source="Orphanet:90309", source="MONDO:equivalentTo", source="NCIT:C125696", source="DOID:14720", source="ORDO:90309/e"} +xref: UMLS:C0268335 {source="Orphanet:90309", source="MONDO:equivalentTo", source="NCIT:C125696", source="Orphanet:90309/e", source="DOID:14720"} is_a: MONDO:0007522 {source="Orphanet:90309", source="linkedlifedata"} ! Ehlers-Danlos syndrome, classic type is_a: MONDO:0020066 {source="DOID:14720", source="MESH:C536194", source="MONDO:0019567/inferred", source="MONDO:Redundant", source="NCIT:C125696", source="Orphanet:90309/inferred", source="linkedlifedata/inferred"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome @@ -376125,12 +375963,12 @@ synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130010] synonym: "Ehlers-Danlos syndrome, classic type, 2" EXACT CLINGEN_PREFERRED [OMIM:130010] synonym: "Ehlers-Danlos syndrome, type Ii" RELATED [OMIM:130010] synonym: "Ehlers-Danlos syndrome, type Ii, formerly" RELATED [OMIM:130010] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="ORDO:90318/attributed", source="ORDO:90318/ntbt", source="Orphanet:90318"} -xref: MESH:C536195 {source="MONDO:equivalentTo", source="ORDO:90318/e", source="Orphanet:90318"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:90318/attributed", source="Orphanet:90318/ntbt", source="Orphanet:90318"} +xref: MESH:C536195 {source="Orphanet:90318/e", source="MONDO:equivalentTo", source="Orphanet:90318"} xref: NCIT:C125697 {source="MONDO:equivalentTo"} xref: OMIM:130010 {source="MONDO:equivalentTo"} xref: Orphanet:90318 {source="MONDO:equivalentObsolete", source="OMIM:130010"} -xref: UMLS:C0268336 {source="MONDO:equivalentTo", source="NCIT:C125697", source="ORDO:90318/e", source="Orphanet:90318"} +xref: UMLS:C0268336 {source="Orphanet:90318/e", source="MONDO:equivalentTo", source="NCIT:C125697", source="Orphanet:90318"} xref: UMLS:C4538407 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:130010"} is_a: MONDO:0007522 {source="Orphanet:90318"} ! Ehlers-Danlos syndrome, classic type is_a: MONDO:0020066 {source="MESH:C536195", source="MONDO:0019568/inferred", source="MONDO:Redundant", source="NCIT:C125697", source="OMIM:130010", source="Orphanet:90318/inferred"} ! Ehlers-Danlos syndrome @@ -376155,16 +375993,16 @@ synonym: "Cockayne syndrome, type A" EXACT [OMIM:216400, OMIM:genemap2] synonym: "CSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216400] synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:0001415 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="ORDO:90321/attributed", source="ORDO:90321/ntbt", source="Orphanet:90321"} +xref: ICD10CM:Q87.8 {source="Orphanet:90321", source="Orphanet:90321/attributed", source="Orphanet:90321/ntbt"} xref: NCIT:C135725 {source="MONDO:equivalentTo"} -xref: OMIM:133540 {source="ORDO:90321/btnt", source="Orphanet:90321", source="MONDO:directSiblingOf"} -xref: OMIM:216400 {source="MONDO:equivalentTo", source="ORDO:90321/btnt", source="Orphanet:90321", source="GARD:0001415"} +xref: OMIM:133540 {source="Orphanet:90321", source="MONDO:directSiblingOf", source="Orphanet:90321/btnt"} +xref: OMIM:216400 {source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="Orphanet:90321/btnt"} xref: Orphanet:191 {source="MONDO:subClassOf", source="OMIM:216400"} xref: Orphanet:90321 {source="MONDO:subClassOf", source="OMIM:216400", source="MONDO:equivalentTo", source="GARD:0001415"} xref: Orphanet:90322 {source="MONDO:subClassOf", source="OMIM:216400", source="MONDO:directSiblingOf"} xref: Orphanet:90324 {source="MONDO:subClassOf", source="OMIM:216400", source="MONDO:directSiblingOf"} -xref: UMLS:C0751039 {source="NCBI:mim2gene_medline", source="OMIM:216400", source="ORDO:90321/e", source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="NCIT:C135725"} -is_a: MONDO:0016006 {source="MONDO:Redundant", source="NCIT:C135725", source="ORDO:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome +xref: UMLS:C0751039 {source="NCBI:mim2gene_medline", source="OMIM:216400", source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="Orphanet:90321/e", source="NCIT:C135725"} +is_a: MONDO:0016006 {source="MONDO:Redundant", source="NCIT:C135725", source="Orphanet:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome intersection_of: MONDO:0016006 ! Cockayne syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3439 ! ERCC8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3439 {source="mim2gene_medgen"} ! ERCC8 @@ -376185,16 +376023,16 @@ synonym: "Cockayne syndrome type II" EXACT [Orphanet:90322] synonym: "Cockayne syndrome, type B" EXACT [OMIM:133540, OMIM:genemap2] synonym: "CSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133540] xref: GARD:0001420 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="ORDO:90322/attributed", source="ORDO:90322/ntbt", source="Orphanet:90322"} +xref: ICD10CM:Q87.8 {source="Orphanet:90322", source="Orphanet:90322/attributed", source="Orphanet:90322/ntbt"} xref: NCIT:C135726 {source="MONDO:equivalentTo"} -xref: OMIM:133540 {source="MONDO:equivalentTo", source="ORDO:90322/btnt", source="Orphanet:90322"} -xref: OMIM:216400 {source="ORDO:90322/btnt", source="Orphanet:90322", source="MONDO:directSiblingOf"} +xref: OMIM:133540 {source="MONDO:equivalentTo", source="Orphanet:90322", source="Orphanet:90322/btnt"} +xref: OMIM:216400 {source="Orphanet:90322", source="Orphanet:90322/btnt", source="MONDO:directSiblingOf"} xref: Orphanet:191 {source="MONDO:subClassOf", source="OMIM:133540"} xref: Orphanet:90321 {source="OMIM:133540", source="MONDO:directSiblingOf"} xref: Orphanet:90322 {source="MONDO:equivalentTo", source="OMIM:133540"} xref: Orphanet:90324 {source="OMIM:133540", source="MONDO:directSiblingOf"} -xref: UMLS:C0751038 {source="NCIT:C135726", source="ORDO:90322/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133540", source="Orphanet:90322"} -is_a: MONDO:0016006 {source="NCIT:C135726", source="ORDO:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome +xref: UMLS:C0751038 {source="NCIT:C135726", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:133540", source="Orphanet:90322", source="Orphanet:90322/e"} +is_a: MONDO:0016006 {source="NCIT:C135726", source="Orphanet:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3438 {source="mim2gene_medgen"} ! ERCC6 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:133540", source="Orphanet:90322"} ! Autosomal recessive inheritance relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -376210,14 +376048,14 @@ synonym: "ADCL" EXACT ABBREVIATION [DOID:0070142, Orphanet:90348] synonym: "cutis laxa, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0070142 {source="MONDO:equivalentTo"} xref: GARD:0001639 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="DOID:0070142", source="ORDO:90348/attributed", source="ORDO:90348/ntbt", source="Orphanet:90348"} +xref: ICD10CM:Q82.8 {source="DOID:0070142", source="Orphanet:90348/attributed", source="Orphanet:90348/ntbt", source="Orphanet:90348"} xref: MESH:C562627 {source="MONDO:equivalentTo"} -xref: OMIM:123700 {source="ORDO:90348/btnt", source="MONDO:superClassOf", source="Orphanet:90348"} -xref: OMIM:614434 {source="ORDO:90348/btnt", source="MONDO:superClassOf", source="Orphanet:90348"} -xref: OMIM:616603 {source="ORDO:90348/btnt", source="MONDO:superClassOf", source="Orphanet:90348"} +xref: OMIM:123700 {source="MONDO:superClassOf", source="Orphanet:90348/btnt", source="Orphanet:90348"} +xref: OMIM:614434 {source="MONDO:superClassOf", source="Orphanet:90348/btnt", source="Orphanet:90348"} +xref: OMIM:616603 {source="MONDO:superClassOf", source="Orphanet:90348/btnt", source="Orphanet:90348"} xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"} xref: SCTID:111388003 {source="MONDO:equivalentTo"} -xref: UMLS:C0268350 {source="MONDO:equivalentTo", source="ORDO:90348/e", source="Orphanet:90348"} +xref: UMLS:C0268350 {source="Orphanet:90348/e", source="MONDO:equivalentTo", source="Orphanet:90348"} is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0100237 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Redundant", source="Orphanet:90348", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa @@ -376240,16 +376078,16 @@ synonym: "cutis laxa, type 1" RELATED [GARD:0008480] xref: DOID:0070144 {source="MONDO:equivalentTo"} xref: GARD:0008480 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:8480 {source="DOID:0070144"} -xref: ICD10CM:Q82.8 {source="ORDO:90349/attributed", source="ORDO:90349/ntbt", source="Orphanet:90349"} +xref: ICD10CM:Q82.8 {source="Orphanet:90349/attributed", source="Orphanet:90349/ntbt", source="Orphanet:90349"} xref: MESH:C536225 {source="MONDO:equivalentTo"} -xref: OMIM:219100 {source="ORDO:90349/btnt", source="MONDO:superClassOf", source="Orphanet:90349"} -xref: OMIM:614437 {source="ORDO:90349/btnt", source="MONDO:superClassOf", source="Orphanet:90349"} +xref: OMIM:219100 {source="MONDO:superClassOf", source="Orphanet:90349/btnt", source="Orphanet:90349"} +xref: OMIM:614437 {source="MONDO:superClassOf", source="Orphanet:90349/btnt", source="Orphanet:90349"} xref: Orphanet:90349 {source="MONDO:equivalentTo"} xref: Orphanet:90439 {source="DOID:0070144", source="typo"} xref: PMID:19401719 {source="DOID:0070144"} xref: SCTID:254222002 {source="DOID:0070144", source="MONDO:equivalentTo"} xref: UMLS:C0268351 {source="DOID:0070144", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90349"} -xref: UMLS:C0432336 {source="DOID:0070144", source="MONDO:notFoundInDiseaseSubset", source="ORDO:90349/e", source="Orphanet:90349"} +xref: UMLS:C0432336 {source="DOID:0070144", source="Orphanet:90349/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90349"} xref: UMLS:CN206407 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:90349", source="Orphanet:90349/inferred"} ! vascular disorder is_a: MONDO:0100237 {source="DOID:0070144", source="Orphanet:90349", source="linkedlifedata/inferred"} ! inherited cutis laxa @@ -376264,9 +376102,9 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90350"} synonym: "ARCL2" EXACT ABBREVIATION [Orphanet:90350] synonym: "cutis laxa with joint laxity and developmental delay" EXACT [Orphanet:90350] -xref: ICD10CM:Q82.8 {source="Orphanet:90350", source="ORDO:90350/attributed", source="ORDO:90350/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:90350", source="Orphanet:90350/attributed", source="Orphanet:90350/ntbt"} xref: Orphanet:90350 {source="MONDO:equivalentTo"} -xref: UMLS:C0432337 {source="ORDO:90350/e", source="Orphanet:90350", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0432337 {source="Orphanet:90350", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90350/e"} is_a: MONDO:0017355 {source="Orphanet:90350"} ! inborn disorder of proline metabolism is_a: MONDO:0018230 {source="Orphanet:90350"} ! primary bone dysplasia is_a: MONDO:0100237 {source="Orphanet:90350"} ! inherited cutis laxa @@ -376279,7 +376117,7 @@ id: MONDO:0019574 name: secondary intestinal lymphangiectasia def: "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." [Orphanet:90363] subset: ordo_disease {source="Orphanet:90363"} -xref: ICD10CM:I89.0 {source="Orphanet:90363", source="ORDO:90363/ntbt"} +xref: ICD10CM:I89.0 {source="Orphanet:90363/ntbt", source="Orphanet:90363"} xref: Orphanet:90363 {source="MONDO:equivalentTo"} xref: SCTID:717255008 {source="MONDO:equivalentTo"} xref: UMLS:C4273969 {source="MONDO:equivalentTo"} @@ -376291,9 +376129,9 @@ name: hypotrichosis simplex of the scalp def: "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." [Orphanet:90368] subset: ordo_disease {source="Orphanet:90368"} synonym: "hereditary hypotrichosis simplex of the scalp" EXACT [Orphanet:90368] -xref: ICD10CM:L65.8 {source="ORDO:90368/attributed", source="ORDO:90368/ntbt", source="Orphanet:90368"} -xref: OMIM:146520 {source="ORDO:90368/btnt", source="MONDO:superClassOf", source="Orphanet:90368"} -xref: OMIM:613981 {source="ORDO:90368/btnt", source="MONDO:superClassOf", source="Orphanet:90368"} +xref: ICD10CM:L65.8 {source="Orphanet:90368/attributed", source="Orphanet:90368/ntbt", source="Orphanet:90368"} +xref: OMIM:146520 {source="MONDO:superClassOf", source="Orphanet:90368/btnt", source="Orphanet:90368"} +xref: OMIM:613981 {source="MONDO:superClassOf", source="Orphanet:90368/btnt", source="Orphanet:90368"} xref: Orphanet:90368 {source="MONDO:equivalentTo"} xref: SCTID:717256009 {source="MONDO:equivalentTo"} xref: UMLS:C1840299 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90368"} @@ -376303,24 +376141,24 @@ is_a: MONDO:0004907 {source="Orphanet:90368"} ! alopecia id: MONDO:0019576 name: telangiectasia macularis eruptiva perstans subset: ordo_clinical_subtype {source="Orphanet:90389"} -xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="ORDO:90389/ntbt", source="Orphanet:90389"} +xref: ICD10CM:Q82.2 {source="MONDO:subClassOf", source="Orphanet:90389", source="Orphanet:90389/ntbt"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10043192 {source="ORDO:90389/e", source="Orphanet:90389"} +xref: MedDRA:10043192 {source="Orphanet:90389", source="Orphanet:90389/e"} xref: Orphanet:90389 {source="MONDO:equivalentTo"} xref: SCTID:8214000 {source="MONDO:equivalentTo"} -xref: UMLS:C0263402 {source="MONDO:equivalentTo", source="ORDO:90389/e", source="Orphanet:90389"} +xref: UMLS:C0263402 {source="MONDO:equivalentTo", source="Orphanet:90389", source="Orphanet:90389/e"} is_a: MONDO:0019316 {source="Orphanet:90389"} ! maculopapular cutaneous mastocytosis [Term] id: MONDO:0019577 name: anonychia-onychodystrophy syndrome subset: ordo_clinical_subtype {source="Orphanet:90390"} -xref: ICD10CM:Q84.3 {source="ORDO:90390/attributed", source="ORDO:90390/ntbt", source="Orphanet:90390"} -xref: MESH:C536378 {source="MONDO:equivalentTo", source="ORDO:90390/e", source="Orphanet:90390"} -xref: OMIM:107000 {source="MONDO:directSiblingOf", source="ORDO:90390/btnt", source="Orphanet:90390"} -xref: OMIM:614149 {source="MONDO:superClassOf", source="ORDO:90390/btnt", source="Orphanet:90390"} +xref: ICD10CM:Q84.3 {source="Orphanet:90390/attributed", source="Orphanet:90390/ntbt", source="Orphanet:90390"} +xref: MESH:C536378 {source="Orphanet:90390/e", source="MONDO:equivalentTo", source="Orphanet:90390"} +xref: OMIM:107000 {source="Orphanet:90390/btnt", source="MONDO:directSiblingOf", source="Orphanet:90390"} +xref: OMIM:614149 {source="MONDO:superClassOf", source="Orphanet:90390/btnt", source="Orphanet:90390"} xref: Orphanet:90390 {source="MONDO:equivalentTo"} -xref: UMLS:C1862840 {source="MONDO:equivalentTo", source="ORDO:90390/e", source="Orphanet:90390"} +xref: UMLS:C1862840 {source="Orphanet:90390/e", source="MONDO:equivalentTo", source="Orphanet:90390"} is_a: MONDO:0019211 {source="Orphanet:90390"} ! isolated congenital anonychia [Term] @@ -376329,7 +376167,7 @@ name: nodular lichen myxedematosus def: "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." [Orphanet:90393] subset: ordo_disease {source="Orphanet:90393"} synonym: "atypical tuberous myxedema of Jadassohn-Dosseker" EXACT [Orphanet:90393] -xref: ICD10CM:L98.5 {source="Orphanet:90393", source="ORDO:90393/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:90393/ntbt", source="Orphanet:90393"} xref: Orphanet:90393 {source="MONDO:equivalentTo"} xref: SCTID:717257000 {source="MONDO:equivalentTo"} xref: UMLS:C4273968 {source="MONDO:equivalentTo"} @@ -376340,7 +376178,7 @@ id: MONDO:0019579 name: discrete papular lichen myxedematosus def: "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." [Orphanet:90394] subset: ordo_disease {source="Orphanet:90394"} -xref: ICD10CM:L98.5 {source="Orphanet:90394", source="ORDO:90394/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:90394", source="Orphanet:90394/ntbt"} xref: Orphanet:90394 {source="MONDO:equivalentTo"} xref: SCTID:717258005 {source="MONDO:equivalentTo"} xref: UMLS:C4273967 {source="MONDO:equivalentTo"} @@ -376352,7 +376190,7 @@ name: papular mucinosis of infancy def: "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." [Orphanet:90395] subset: ordo_disease {source="Orphanet:90395"} synonym: "cutaneous mucinosis of infancy" EXACT [Orphanet:90395] -xref: ICD10CM:L98.5 {source="Orphanet:90395", source="ORDO:90395/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:90395/ntbt", source="Orphanet:90395"} xref: Orphanet:90395 {source="MONDO:equivalentTo"} xref: SCTID:717259002 {source="MONDO:equivalentTo"} xref: UMLS:C4273966 {source="MONDO:equivalentTo"} @@ -376363,11 +376201,11 @@ id: MONDO:0019581 name: acral persistent papular mucinosis def: "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." [Orphanet:90396] subset: ordo_disease {source="Orphanet:90396"} -xref: ICD10CM:L98.5 {source="Orphanet:90396", source="ORDO:90396/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:90396/ntbt", source="Orphanet:90396"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:90396 {source="MONDO:equivalentTo"} xref: SCTID:238949006 {source="MONDO:equivalentTo"} -xref: UMLS:C0406660 {source="ORDO:90396/e", source="Orphanet:90396", source="MONDO:equivalentTo"} +xref: UMLS:C0406660 {source="Orphanet:90396", source="MONDO:equivalentTo", source="Orphanet:90396/e"} is_a: MONDO:0019446 {source="Orphanet:90396", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus [Term] @@ -376375,7 +376213,7 @@ id: MONDO:0019582 name: self-healing papular mucinosis def: "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." [Orphanet:90397] subset: ordo_disease {source="Orphanet:90397"} -xref: ICD10CM:L98.5 {source="Orphanet:90397", source="ORDO:90397/ntbt"} +xref: ICD10CM:L98.5 {source="Orphanet:90397", source="Orphanet:90397/ntbt"} xref: Orphanet:90397 {source="MONDO:equivalentTo"} is_a: MONDO:0019446 {source="Orphanet:90397", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus @@ -376384,7 +376222,7 @@ id: MONDO:0019583 name: localized lichen myxedematosus with mixed features of different subtypes def: "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." [Orphanet:90398] subset: ordo_clinical_subtype {source="Orphanet:90398"} -xref: ICD10CM:L98.5 {source="ORDO:90398/ntbt", source="Orphanet:90398"} +xref: ICD10CM:L98.5 {source="Orphanet:90398", source="Orphanet:90398/ntbt"} xref: Orphanet:90398 {source="MONDO:equivalentTo"} is_a: MONDO:0019447 {source="Orphanet:90398"} ! atypical lichen myxedematosus @@ -376393,7 +376231,7 @@ id: MONDO:0019584 name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms def: "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." [Orphanet:90399] subset: ordo_clinical_subtype {source="Orphanet:90399"} -xref: ICD10CM:L98.5 {source="ORDO:90399/ntbt", source="Orphanet:90399"} +xref: ICD10CM:L98.5 {source="Orphanet:90399", source="Orphanet:90399/ntbt"} xref: Orphanet:90399 {source="MONDO:equivalentTo"} is_a: MONDO:0019447 {source="Orphanet:90399"} ! atypical lichen myxedematosus @@ -376402,7 +376240,7 @@ id: MONDO:0019585 name: scleromyxedema without monoclonal gammopathy def: "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." [Orphanet:90400] subset: ordo_clinical_subtype {source="Orphanet:90400"} -xref: ICD10CM:L98.5 {source="ORDO:90400/ntbt", source="Orphanet:90400"} +xref: ICD10CM:L98.5 {source="Orphanet:90400", source="Orphanet:90400/ntbt"} xref: Orphanet:90400 {source="MONDO:equivalentTo"} is_a: MONDO:0019447 {source="Orphanet:90400"} ! atypical lichen myxedematosus @@ -376427,13 +376265,13 @@ synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orp synonym: "X-linked nonsyndromic deafness" NARROW [] synonym: "X-linked nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] xref: DOID:0050566 {source="MONDO:equivalentTo"} -xref: ICD10CM:H90.3 {source="ORDO:90625/attributed", source="ORDO:90625/ntbt", source="DOID:0050566", source="Orphanet:90625"} -xref: OMIM:300030 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} -xref: OMIM:300066 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} +xref: ICD10CM:H90.3 {source="DOID:0050566", source="Orphanet:90625/attributed", source="Orphanet:90625/ntbt", source="Orphanet:90625"} +xref: OMIM:300030 {source="DOID:0050566", source="Orphanet:90625/btnt", source="MONDO:superClassOf", source="Orphanet:90625"} +xref: OMIM:300066 {source="DOID:0050566", source="Orphanet:90625/btnt", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIM:300614 {source="DOID:0050566", source="MONDO:superClassOf"} -xref: OMIM:300914 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} +xref: OMIM:300914 {source="DOID:0050566", source="Orphanet:90625/btnt", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIM:304400 {source="DOID:0050566", source="MONDO:superClassOf"} -xref: OMIM:304500 {source="ORDO:90625/btnt", source="DOID:0050566", source="MONDO:superClassOf", source="Orphanet:90625"} +xref: OMIM:304500 {source="DOID:0050566", source="Orphanet:90625/btnt", source="MONDO:superClassOf", source="Orphanet:90625"} xref: OMIMPS:304500 {source="DOID:0050566"} xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"} xref: UMLS:CN206422 {source="MONDO:equivalentTo"} @@ -376468,62 +376306,62 @@ synonym: "deafness, autosomal dominant" NARROW [OMIMPS:124900] synonym: "nonsyndromic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] synonym: "nonsyndromic genetic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] xref: DOID:0050564 {source="MONDO:equivalentTo"} -xref: ICD10CM:H90.3 {source="ORDO:90635/attributed", source="ORDO:90635/ntbt", source="DOID:0050564", source="Orphanet:90635"} -xref: OMIM:124900 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:600101 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:600652 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:600965 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:600994 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601316 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601317 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601369 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601412 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601543 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601544 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:601868 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:602459 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:603622 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:603964 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:604717 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:605192 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:605583 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:606012 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:606282 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:606346 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:606451 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:606705 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:607017 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:607197 {source="ORDO:90635/btnt", source="Orphanet:90635", source="MONDO:directSiblingOf"} -xref: OMIM:607453 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:607683 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:607841 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:608224 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:608372 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:608394 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:608641 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:608645 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:608652 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:609129 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:609965 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:612431 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:612642 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:612643 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:612644 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:613074 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:613558 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:614152 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:614211 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:614614 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:615629 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:615649 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:615654 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616044 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616340 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616357 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616697 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616707 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616968 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} -xref: OMIM:616969 {source="ORDO:90635/btnt", source="MONDO:superClassOf", source="Orphanet:90635"} +xref: ICD10CM:H90.3 {source="DOID:0050564", source="Orphanet:90635/attributed", source="Orphanet:90635/ntbt", source="Orphanet:90635"} +xref: OMIM:124900 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:600101 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:600652 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:600965 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:600994 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601316 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601317 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601369 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601412 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601543 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601544 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:601868 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:602459 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:603622 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:603964 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:604717 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:605192 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:605583 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:606012 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:606282 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:606346 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:606451 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:606705 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:607017 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:607197 {source="Orphanet:90635/btnt", source="Orphanet:90635", source="MONDO:directSiblingOf"} +xref: OMIM:607453 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:607683 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:607841 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:608224 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:608372 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:608394 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:608641 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:608645 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:608652 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:609129 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:609965 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:612431 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:612642 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:612643 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:612644 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:613074 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:613558 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:614152 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:614211 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:614614 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:615629 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:615649 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:615654 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616044 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616340 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616357 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616697 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616707 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616968 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} +xref: OMIM:616969 {source="MONDO:superClassOf", source="Orphanet:90635/btnt", source="Orphanet:90635"} xref: OMIMPS:124900 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: UMLS:CN043649 {source="MONDO:equivalentTo"} @@ -376554,88 +376392,88 @@ synonym: "nonsyndromic deafness, autosomal recessive" NARROW [MONDO:patterns/aut synonym: "nonsyndromic genetic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive] xref: DOID:0050565 {source="MONDO:equivalentTo"} xref: GARD:0001710 {source="MONDO:equivalentTo"} -xref: ICD10CM:H90.3 {source="ORDO:90636/attributed", source="ORDO:90636/ntbt", source="DOID:0050565", source="Orphanet:90636"} +xref: ICD10CM:H90.3 {source="DOID:0050565", source="Orphanet:90636/attributed", source="Orphanet:90636/ntbt", source="Orphanet:90636"} xref: MESH:C564609 {source="MONDO:equivalentTo"} -xref: OMIM:220290 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:600060 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:600316 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:600791 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:600792 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:600971 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:600974 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:601071 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:601072 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:601386 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:601869 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:602092 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:603010 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:603098 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:603629 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:603678 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:603720 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:604060 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:605428 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:605818 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:607039 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:607084 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:607101 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:220290 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:600060 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:600316 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:600791 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:600792 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:600971 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:600974 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:601071 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:601072 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:601386 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:601869 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:602092 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:603010 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:603098 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:603629 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:603678 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:603720 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:604060 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:605428 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:605818 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:607039 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:607084 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:607101 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} xref: OMIM:607197 {source="OMIM-generic-entry", source="DOID:0050565", source="MONDO:equivalentTo"} -xref: OMIM:607239 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:607821 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:608219 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:608264 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:608265 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:608565 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:608653 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609006 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609439 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609533 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609646 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609647 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609706 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609823 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609941 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609946 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:609952 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610143 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610153 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610154 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610212 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610220 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610248 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610265 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:610419 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:611022 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:611451 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:612433 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:612645 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:612789 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613079 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613285 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613307 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613391 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613392 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613453 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613685 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613718 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613865 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:613916 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614035 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614414 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614617 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614861 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614899 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614934 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614944 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:614945 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:615429 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:615540 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:615837 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:615974 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:616042 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:616515 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:616705 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} -xref: OMIM:616958 {source="ORDO:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:607239 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:607821 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:608219 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:608264 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:608265 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:608565 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:608653 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609006 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609439 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609533 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609646 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609647 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609706 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609823 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609941 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609946 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:609952 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610143 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610153 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610154 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610212 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610220 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610248 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610265 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:610419 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:611022 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:611451 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:612433 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:612645 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:612789 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613079 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613285 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613307 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613391 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613392 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613453 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613685 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613718 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613865 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:613916 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614035 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614414 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614617 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614861 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614899 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614934 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614944 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:614945 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:615429 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:615540 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:615837 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:615974 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:616042 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:616515 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:616705 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} +xref: OMIM:616958 {source="Orphanet:90636/btnt", source="MONDO:superClassOf"} xref: OMIMPS:220290 {source="DOID:0050565", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="OMIM:607197", source="MONDO:directSiblingOf"} xref: Orphanet:90636 {source="DOID:0050565", source="MONDO:equivalentTo"} @@ -376655,7 +376493,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90642"} synonym: "syndromic genetic deafness" NARROW CLINGEN_PREFERRED [] synonym: "syndromic hearing loss" BROAD [] -xref: ICD10CM:H90.3 {source="ORDO:90642/attributed", source="ORDO:90642/ntbt", source="Orphanet:90642"} +xref: ICD10CM:H90.3 {source="Orphanet:90642", source="Orphanet:90642/attributed", source="Orphanet:90642/ntbt"} xref: Orphanet:90642 {source="MONDO:equivalentTo"} xref: SCTID:232333009 {source="MONDO:equivalentTo"} xref: UMLS:CN206426 {source="MONDO:equivalentTo"} @@ -376690,20 +376528,20 @@ synonym: "complete hypopituitarism" EXACT [NCIT:C110940] synonym: "Simmond's disease" EXACT [DOID:9410] synonym: "Simmonds' disease" EXACT [DOID:9410] xref: DOID:9410 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="ORDO:90695/ntbt", source="Orphanet:90695", source="ORDO:90695/inclusion", source="DOID:9410"} +xref: ICD10CM:E23.0 {source="MONDO:subClassOf", source="Orphanet:90695/inclusion", source="Orphanet:90695", source="DOID:9410", source="Orphanet:90695/ntbt"} xref: ICD9:253.2 {source="MONDO:equivalentTo", source="i2s", source="DOID:9410"} -xref: MedDRA:10033662 {source="ORDO:90695/e", source="Orphanet:90695"} +xref: MedDRA:10033662 {source="Orphanet:90695", source="Orphanet:90695/e"} xref: MESH:C580003 {source="DOID:9410"} xref: NCIT:C110940 {source="MONDO:equivalentTo", source="DOID:9410"} -xref: OMIM:262600 {source="ORDO:90695/btnt", source="Orphanet:90695", source="MONDO:superClassOf"} -xref: OMIM:312000 {source="ORDO:90695/btnt", source="Orphanet:90695", source="MONDO:superClassOf"} +xref: OMIM:262600 {source="Orphanet:90695", source="MONDO:superClassOf", source="Orphanet:90695/btnt"} +xref: OMIM:312000 {source="Orphanet:90695", source="MONDO:superClassOf", source="Orphanet:90695/btnt"} xref: Orphanet:90695 {source="MONDO:equivalentTo"} xref: SCTID:154700009 {source="DOID:9410"} xref: SCTID:190469009 {source="DOID:9410"} xref: SCTID:190475000 {source="DOID:9410"} xref: SCTID:267481002 {source="DOID:9410"} xref: SCTID:32390006 {source="MONDO:equivalentTo", source="DOID:9410"} -xref: UMLS:C0242343 {source="ORDO:90695/e", source="MONDO:equivalentTo", source="Orphanet:90695", source="DOID:9410", source="NCIT:C110940"} +xref: UMLS:C0242343 {source="MONDO:equivalentTo", source="Orphanet:90695", source="DOID:9410", source="NCIT:C110940", source="Orphanet:90695/e"} is_a: MONDO:0005152 {source="DOID:9410", source="MONDO:Redundant", source="NCIT:C110940", source="linkedlifedata"} ! hypopituitarism is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0021124 ! female infertility @@ -376723,7 +376561,7 @@ name: 46,XX disorder of sex development induced by fetal androgens excess subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90776"} synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776] -xref: ICD10CM:E25.0 {source="ORDO:90776/attributed", source="ORDO:90776/ntbt", source="Orphanet:90776"} +xref: ICD10CM:E25.0 {source="Orphanet:90776", source="Orphanet:90776/attributed", source="Orphanet:90776/ntbt"} xref: Orphanet:90776 {source="MONDO:equivalentTo"} xref: UMLS:CN227655 {source="MONDO:equivalentTo"} is_a: MONDO:0002263 {source="MONDO:Redundant", source="Orphanet:90776", source="Orphanet:90776/inferred"} ! female reproductive system disorder @@ -376765,7 +376603,7 @@ name: obsolete 46,XY disorder of sex development due to testicular steroidogenes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90787"} synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [Orphanet:90787] -xref: ICD10CM:E29.1 {source="ORDO:90787/attributed", source="ORDO:90787/ntbt", source="Orphanet:90787"} +xref: ICD10CM:E29.1 {source="Orphanet:90787", source="Orphanet:90787/attributed", source="Orphanet:90787/ntbt"} xref: Orphanet:90787 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227658 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -376778,8 +376616,8 @@ id: MONDO:0019597 name: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency def: "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." [Orphanet:90796] subset: ordo_disease {source="Orphanet:90796"} -xref: ICD10CM:E29.1 {source="ORDO:90796/attributed", source="ORDO:90796/ntbt", source="Orphanet:90796"} -xref: OMIM:202110 {source="MONDO:subClassOf", source="ORDO:90796/ntbt", source="Orphanet:90796"} +xref: ICD10CM:E29.1 {source="Orphanet:90796", source="Orphanet:90796/attributed", source="Orphanet:90796/ntbt"} +xref: OMIM:202110 {source="MONDO:subClassOf", source="Orphanet:90796", source="Orphanet:90796/ntbt"} xref: Orphanet:90796 {source="MONDO:equivalentTo"} xref: UMLS:C0268285 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:90796"} xref: UMLS:CN206443 {source="MONDO:equivalentTo"} @@ -376803,7 +376641,7 @@ name: primary lipodystrophy def: "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." [Orphanet:90970] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90970"} -xref: ICD10CM:E88.1 {source="ORDO:90970/attributed", source="ORDO:90970/ntbt", source="Orphanet:90970"} +xref: ICD10CM:E88.1 {source="Orphanet:90970", source="Orphanet:90970/attributed", source="Orphanet:90970/ntbt"} xref: Orphanet:90970 {source="MONDO:equivalentTo"} is_a: MONDO:0019296 {source="Orphanet:90970"} ! subcutaneous tissue disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015949"} ! rare @@ -376826,21 +376664,21 @@ synonym: "xeroderma pigmentosum syndrome" EXACT [NCIT:C3452] synonym: "XP" EXACT ABBREVIATION [Orphanet:910] xref: DOID:0050427 {source="MONDO:equivalentTo"} xref: GARD:0007910 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.1 {source="ORDO:910/e", source="ORDO:910/specific", source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427"} -xref: MedDRA:10048220 {source="ORDO:910/e", source="Orphanet:910"} -xref: MESH:D014983 {source="ORDO:910/e", source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427"} +xref: ICD10CM:Q82.1 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/specific", source="Orphanet:910/e"} +xref: MedDRA:10048220 {source="Orphanet:910", source="Orphanet:910/e"} +xref: MESH:D014983 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/e"} xref: NCIT:C3452 {source="MONDO:equivalentTo", source="DOID:0050427"} -xref: OMIM:194400 {source="ORDO:910/w", source="MONDO:superClassOf"} -xref: OMIM:278700 {source="MONDO:superClassOf", source="ORDO:910/btnt"} -xref: OMIM:278720 {source="MONDO:superClassOf", source="ORDO:910/btnt"} -xref: OMIM:278730 {source="MONDO:superClassOf", source="ORDO:910/btnt"} -xref: OMIM:278740 {source="MONDO:superClassOf", source="ORDO:910/btnt"} -xref: OMIM:278760 {source="MONDO:superClassOf", source="ORDO:910/btnt"} -xref: OMIM:278780 {source="MONDO:superClassOf", source="ORDO:910/btnt"} -xref: OMIM:610651 {source="MONDO:superClassOf", source="ORDO:910/btnt"} +xref: OMIM:194400 {source="MONDO:superClassOf", source="Orphanet:910/w"} +xref: OMIM:278700 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} +xref: OMIM:278720 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} +xref: OMIM:278730 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} +xref: OMIM:278740 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} +xref: OMIM:278760 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} +xref: OMIM:278780 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} +xref: OMIM:610651 {source="Orphanet:910/btnt", source="MONDO:superClassOf"} xref: Orphanet:910 {source="MONDO:equivalentTo", source="DOID:0050427"} xref: SCTID:44600005 {source="MONDO:equivalentTo", source="DOID:0050427"} -xref: UMLS:C0043346 {source="ORDO:910/e", source="Orphanet:910", source="MONDO:equivalentTo", source="NCIT:C3452", source="DOID:0050427"} +xref: UMLS:C0043346 {source="Orphanet:910", source="MONDO:equivalentTo", source="NCIT:C3452", source="DOID:0050427", source="Orphanet:910/e"} is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder is_a: MONDO:0015333 {source="Orphanet:910"} ! progeroid syndrome is_a: MONDO:0015951 {source="Orphanet:910", source="PMID:27745641"} ! hereditary photodermatosis @@ -376857,7 +376695,7 @@ subset: ordo_group_of_disorders {source="Orphanet:91024"} synonym: "AR-CMT2" EXACT [Orphanet:91024] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024] synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:G60.0 {source="Orphanet:91024", source="ORDO:91024/ntbt", source="ORDO:91024/inclusion"} +xref: ICD10CM:G60.0 {source="Orphanet:91024/inclusion", source="Orphanet:91024", source="Orphanet:91024/ntbt"} xref: Orphanet:91024 {source="MONDO:equivalentTo"} xref: UMLS:CN206449 {source="MONDO:equivalentTo"} is_a: MONDO:0018775 {source="MONDO:Redundant", source="Orphanet:91024"} ! axonal hereditary motor and sensory neuropathy @@ -376882,7 +376720,7 @@ id: MONDO:0019603 name: osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome def: "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." [Orphanet:91133] subset: ordo_malformation_syndrome {source="Orphanet:91133"} -xref: ICD10CM:Q87.5 {source="Orphanet:91133", source="ORDO:91133/attributed", source="ORDO:91133/ntbt"} +xref: ICD10CM:Q87.5 {source="Orphanet:91133/attributed", source="Orphanet:91133/ntbt", source="Orphanet:91133"} xref: Orphanet:91133 {source="MONDO:equivalentTo"} xref: SCTID:722111004 {source="MONDO:equivalentTo"} xref: UMLS:CN206455 {source="MONDO:equivalentTo"} @@ -376897,7 +376735,7 @@ def: "A rare monoclonalgammopathy characterized by renal proximal tubule dysfunc subset: ordo_disease {source="Orphanet:91136"} synonym: "acquired Fanconi syndrome secondary to monoclonal gammopathy" EXACT [Orphanet:91136] synonym: "acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome" EXACT [Orphanet:91136] -xref: ICD10CM:E72.0 {source="ORDO:91136/ntbt", source="Orphanet:91136"} +xref: ICD10CM:E72.0 {source="Orphanet:91136", source="Orphanet:91136/ntbt"} xref: Orphanet:91136 {source="MONDO:equivalentTo"} xref: SCTID:724099000 {source="MONDO:equivalentTo"} xref: UMLS:C4510369 {source="MONDO:equivalentTo"} @@ -376914,7 +376752,7 @@ subset: ordo_group_of_disorders {source="Orphanet:91137"} synonym: "fibrillary glomerulonephritis and immunotactoid glomerulopathy" RELATED [GARD:0012741] synonym: "Immunotactoid or fibrillary glomerulonephritis" EXACT [Orphanet:91137] xref: GARD:0012741 {source="MONDO:equivalentTo"} -xref: ICD10CM:N03.6 {source="ORDO:91137/ntbt", source="Orphanet:91137"} +xref: ICD10CM:N03.6 {source="Orphanet:91137", source="Orphanet:91137/ntbt"} xref: Orphanet:91137 {source="MONDO:equivalentTo"} is_a: MONDO:0019724 {source="Orphanet:91137"} ! secondary glomerular disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy xsd:anyURI {source="GARD:0012741"} @@ -376925,7 +376763,7 @@ name: simple cryoglobulinemia def: "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." [Orphanet:91139] subset: ordo_disease {source="Orphanet:91139"} synonym: "cryoglobulinemia type 1" EXACT [Orphanet:91139] -xref: ICD10CM:D89.1 {source="ORDO:91139/ntbt", source="MONDO:relatedTo", source="Orphanet:91139"} +xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:91139", source="Orphanet:91139/ntbt"} xref: Orphanet:91139 {source="MONDO:equivalentTo"} xref: SCTID:723674005 {source="MONDO:equivalentTo"} xref: UMLS:C4510006 {source="MONDO:equivalentTo"} @@ -376938,7 +376776,7 @@ name: unspecified juvenile idiopathic arthritis def: "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." [Orphanet:91140] subset: ordo_disease {source="Orphanet:91140"} synonym: "unspecified JIA" EXACT [Orphanet:91140] -xref: ICD10CM:M08.8 {source="Orphanet:91140", source="ORDO:91140/ntbt"} +xref: ICD10CM:M08.8 {source="Orphanet:91140", source="Orphanet:91140/ntbt"} xref: Orphanet:91140 {source="MONDO:equivalentTo"} is_a: MONDO:0011429 {source="Orphanet:91140"} ! juvenile idiopathic arthritis @@ -376948,7 +376786,7 @@ name: 46,XX disorder of sex development induced by maternal-derived androgen subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:91144"} synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [Orphanet:91144] -xref: ICD10CM:Q56.2 {source="Orphanet:91144", source="ORDO:91144/ntbt"} +xref: ICD10CM:Q56.2 {source="Orphanet:91144/ntbt", source="Orphanet:91144"} xref: Orphanet:91144 {source="MONDO:equivalentTo"} xref: UMLS:CN227662 {source="MONDO:equivalentTo"} is_a: MONDO:0020039 {source="Orphanet:91144"} ! 46,XX disorder of sex development induced by androgens excess @@ -376970,25 +376808,25 @@ synonym: "ZWS" EXACT ABBREVIATION [GARD:0007917] xref: DOID:905 {source="MONDO:equivalentTo"} xref: GARD:0007917 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10CM:E71.510 {source="MONDO:equivalentTo", source="DOID:905"} -xref: ICD10CM:Q87.8 {source="Orphanet:912", source="ORDO:912/ntbt", source="ORDO:912/inclusion"} -xref: MESH:D015211 {source="ORDO:912/e", source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905"} +xref: ICD10CM:Q87.8 {source="Orphanet:912/inclusion", source="Orphanet:912", source="Orphanet:912/ntbt"} +xref: MESH:D015211 {source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"} xref: NCIT:C85239 {source="MONDO:subClassOf", source="MONDO:equivalentTo", source="DOID:905", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} -xref: OMIM:214100 {source="ORDO:912/e", source="MONDO:superClassOf", source="Orphanet:912", source="DOID:905"} -xref: OMIM:214110 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614859 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614862 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614866 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614870 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614872 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614876 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614882 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614883 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614886 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} -xref: OMIM:614887 {source="MONDO:superClassOf", source="Orphanet:912", source="ORDO:912/btnt"} +xref: OMIM:214100 {source="MONDO:superClassOf", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"} +xref: OMIM:214110 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614859 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614862 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614866 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614870 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614872 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614876 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614882 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614883 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614886 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} +xref: OMIM:614887 {source="MONDO:superClassOf", source="Orphanet:912", source="Orphanet:912/btnt"} xref: OMIM:617370 {source="MONDO:superClassOf", source="Orphanet:912"} xref: Orphanet:912 {source="MONDO:equivalentTo", source="DOID:905"} xref: SCTID:88469006 {source="MONDO:equivalentTo", source="DOID:905"} -xref: UMLS:C0043459 {source="NCIT:C85239", source="ORDO:912/e", source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905"} +xref: UMLS:C0043459 {source="NCIT:C85239", source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"} is_a: MONDO:0002254 {source="MONDO:0019609/inferred", source="MONDO:Redundant", source="NCIT:C85239", source="indirect"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin @@ -377015,11 +376853,11 @@ xref: DOID:0050782 {source="MONDO:equivalentTo", source="EFO:0007549"} xref: EFO:0007549 {source="MONDO:equivalentTo"} xref: GARD:0007918 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002044 {source="MONDO:otherHierarchy"} -xref: ICD10CM:C25.4 {source="MONDO:relatedTo", source="ORDO:913/ntbt", source="Orphanet:913"} -xref: ICD10CM:E16.4 {source="DOID:0050782", source="ORDO:913/ntbt", source="Orphanet:913"} -xref: MedDRA:10017852 {source="ORDO:913/e", source="Orphanet:913"} -xref: MESH:D015043 {source="DOID:0050782", source="ORDO:913/e", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549"} -xref: MESH:D015408 {source="ORDO:913/e", source="Orphanet:913", source="MONDO:directSiblingOf"} +xref: ICD10CM:C25.4 {source="MONDO:relatedTo", source="Orphanet:913", source="Orphanet:913/ntbt"} +xref: ICD10CM:E16.4 {source="DOID:0050782", source="Orphanet:913", source="Orphanet:913/ntbt"} +xref: MedDRA:10017852 {source="Orphanet:913", source="Orphanet:913/e"} +xref: MESH:D015043 {source="DOID:0050782", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549", source="Orphanet:913/e"} +xref: MESH:D015408 {source="Orphanet:913", source="Orphanet:913/e", source="MONDO:directSiblingOf"} xref: NCIT:C3453 {source="DOID:0050782", source="MONDO:equivalentTo"} xref: Orphanet:913 {source="MONDO:equivalentTo"} xref: SCTID:154694003 {source="DOID:0050782"} @@ -377027,8 +376865,8 @@ xref: SCTID:190443003 {source="DOID:0050782"} xref: SCTID:267477002 {source="DOID:0050782"} xref: SCTID:302824004 {source="MONDO:relatedTo"} xref: SCTID:53132006 {source="DOID:0050782", source="MONDO:equivalentTo"} -xref: UMLS:C0017150 {source="ORDO:913/e", source="Orphanet:913", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0043515 {source="DOID:0050782", source="ORDO:913/e", source="MONDO:equivalentTo", source="NCIT:C3453", source="Orphanet:913"} +xref: UMLS:C0017150 {source="Orphanet:913", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:913/e"} +xref: UMLS:C0043515 {source="DOID:0050782", source="MONDO:equivalentTo", source="NCIT:C3453", source="Orphanet:913", source="Orphanet:913/e"} is_a: MONDO:0001770 {source="linkedlifedata"} ! gastrin secretion abnormality is_a: MONDO:0002254 {source="DOID:0050782", source="MONDO:0019610/inferred", source="MONDO:Redundant", source="NCIT:C3453/inferred"} ! syndromic disease is_a: MONDO:0021058 {source="NCIT:C3453"} ! neoplastic syndrome @@ -377078,10 +376916,10 @@ synonym: "TSH-oma" EXACT [Orphanet:91347] synonym: "TSH-producing adenoma" EXACT [NCIT:C8011] synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "TSHoma" EXACT [NCIT:C8011] -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="ORDO:91347/ntbt", source="Orphanet:91347"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91347/ntbt", source="Orphanet:91347"} xref: NCIT:C8011 {source="MONDO:equivalentTo"} xref: Orphanet:91347 {source="MONDO:equivalentTo"} -xref: UMLS:C0346303 {source="NCIT:C8011", source="MONDO:equivalentTo", source="ORDO:91347/e", source="Orphanet:91347"} +xref: UMLS:C0346303 {source="NCIT:C8011", source="Orphanet:91347/e", source="MONDO:equivalentTo", source="Orphanet:91347"} is_a: MONDO:0003429 {source="MONDO:0019611/inferred", source="MONDO:Redundant", source="Orphanet:91347", source="indirect"} ! functioning pituitary gland adenoma is_a: MONDO:0003837 {source="NCIT:C8011"} ! TSH producing pituitary tumor is_a: MONDO:0006373 {source="MONDO:0019611/inferred", source="MONDO:Redundant", source="NCIT:C8011", source="Orphanet:91347/inferred"} ! pituitary gland adenoma @@ -377093,10 +376931,10 @@ def: "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscop subset: ordo_disease {source="Orphanet:91348"} synonym: "functioning pituitary gonadotropic adenoma" EXACT [Orphanet:91348] synonym: "gonadotroph adenoma" EXACT [Orphanet:91348] -xref: ICD10CM:D35.2 {source="ORDO:91348/ntbt", source="MONDO:relatedTo", source="Orphanet:91348"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91348", source="Orphanet:91348/ntbt"} xref: Orphanet:91348 {source="MONDO:equivalentTo"} xref: SCTID:254960002 {source="MONDO:equivalentTo"} -xref: UMLS:C0346304 {source="MONDO:equivalentTo", source="ORDO:91348/e", source="Orphanet:91348"} +xref: UMLS:C0346304 {source="Orphanet:91348/e", source="MONDO:equivalentTo", source="Orphanet:91348"} is_a: MONDO:0003429 {source="MONDO:Redundant", source="Orphanet:91348"} ! functioning pituitary gland adenoma intersection_of: MONDO:0003429 ! functioning pituitary gland adenoma intersection_of: realized_in GO:0032274 ! gonadotropin secretion @@ -377130,7 +376968,7 @@ synonym: "nonfunctional pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "silent pituitary gland adenoma" EXACT [NCIT:C4348] xref: DOID:5715 {source="MONDO:equivalentTo"} xref: EFO:0008516 {source="MONDO:equivalentTo"} -xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="ORDO:91349/ntbt", source="Orphanet:91349"} +xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91349/ntbt", source="Orphanet:91349"} xref: NCIT:C4348 {source="MONDO:equivalentTo", source="DOID:5715"} xref: Orphanet:91349 {source="MONDO:equivalentTo"} xref: SCTID:254962005 {source="MONDO:equivalentTo", source="DOID:5715"} @@ -377146,7 +376984,7 @@ id: MONDO:0019614 name: pituitary deficiency due to Rathke's pouch cysts subset: ordo_disease {source="Orphanet:91350"} synonym: "pituitary deficiency due to Rathke's cleft cysts" RELATED [Orphanet:91350] -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91350", source="ORDO:91350/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:91350/ntbt", source="MONDO:relatedTo", source="Orphanet:91350"} xref: Orphanet:91350 {source="MONDO:equivalentTo"} is_a: MONDO:0019833 {source="Orphanet:91350"} ! pituitary hormone deficiency from tumoral origin relationship: disease_arises_from_structure UBERON:0005356 ! Rathke's pouch @@ -377170,7 +377008,7 @@ id: MONDO:0019617 name: pituitary deficiency due to empty sella turcica syndrome subset: ordo_disease {source="Orphanet:91354"} synonym: "hypopituitarism due to empty sella turcica syndrome" EXACT [Orphanet:91354] -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91354", source="ORDO:91354/ntbt"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91354", source="Orphanet:91354/ntbt"} xref: Orphanet:91354 {source="MONDO:equivalentTo"} xref: SCTID:715668008 {source="MONDO:equivalentTo"} xref: UMLS:C4275064 {source="MONDO:equivalentTo"} @@ -377189,8 +377027,8 @@ synonym: "postpartum pituitary necrosis" RELATED [GARD:0007630] synonym: "Sheehan's syndrome" EXACT [DOID:9476] xref: DOID:9476 {source="MONDO:equivalentTo"} xref: GARD:0007630 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="ORDO:91355/ntbt", source="Orphanet:91355", source="DOID:9476"} -xref: MedDRA:10036297 {source="ORDO:91355/e", source="Orphanet:91355"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91355", source="DOID:9476", source="Orphanet:91355/ntbt"} +xref: MedDRA:10036297 {source="Orphanet:91355", source="Orphanet:91355/e"} xref: MESH:D007018 {source="MONDO:relatedTo", source="DOID:9476"} xref: NCIT:C35300 {source="MONDO:equivalentTo", source="DOID:9476"} xref: Orphanet:91355 {source="MONDO:equivalentTo"} @@ -377201,7 +377039,7 @@ xref: SCTID:237684005 {source="DOID:9476"} xref: SCTID:267482009 {source="DOID:9476"} xref: SCTID:290653008 {source="MONDO:equivalentTo", source="DOID:9476"} xref: SCTID:32390006 {source="MONDO:relatedTo", source="DOID:9476"} -xref: UMLS:C0242342 {source="ORDO:91355/e", source="MONDO:equivalentTo", source="NCIT:C35300", source="Orphanet:91355", source="DOID:9476"} +xref: UMLS:C0242342 {source="MONDO:equivalentTo", source="NCIT:C35300", source="Orphanet:91355", source="DOID:9476", source="Orphanet:91355/e"} is_a: MONDO:0002254 {source="NCIT:C35300"} ! syndromic disease is_a: MONDO:0019841 {source="Orphanet:91355"} ! pituitary hormone defiency from vascular origin @@ -377210,7 +377048,7 @@ id: MONDO:0019619 name: duplication of the esophagus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:91357"} -xref: ICD10CM:Q39.8 {source="ORDO:91357/attributed", source="ORDO:91357/ntbt", source="Orphanet:91357"} +xref: ICD10CM:Q39.8 {source="Orphanet:91357", source="Orphanet:91357/attributed", source="Orphanet:91357/ntbt"} xref: Orphanet:91357 {source="MONDO:equivalentTo"} is_a: MONDO:0015207 {source="Orphanet:91357"} ! non-syndromic esophageal malformation @@ -377220,7 +377058,7 @@ name: congenital esophageal diverticulum def: "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." [Orphanet:91358] subset: ordo_morphological_anomaly {source="Orphanet:91358"} synonym: "congenital esophageal pouch" EXACT [Orphanet:91358] -xref: ICD10CM:Q39.6 {source="ORDO:91358/attributed", source="ORDO:91358/ntbt", source="Orphanet:91358"} +xref: ICD10CM:Q39.6 {source="Orphanet:91358/attributed", source="Orphanet:91358/ntbt", source="Orphanet:91358"} xref: ICD9:750.4 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:91358 {source="MONDO:equivalentTo"} xref: SCTID:204667006 {source="MONDO:equivalentTo"} @@ -377234,7 +377072,7 @@ name: chronic pneumonitis of infancy def: "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." [Orphanet:91359] subset: ordo_disease {source="Orphanet:91359"} synonym: "CPI" EXACT ABBREVIATION [Orphanet:91359] -xref: ICD10CM:J84.0 {source="ORDO:91359/ntbt", source="Orphanet:91359"} +xref: ICD10CM:J84.0 {source="Orphanet:91359", source="Orphanet:91359/ntbt"} xref: Orphanet:91359 {source="MONDO:equivalentTo"} xref: SCTID:708026002 {source="MONDO:equivalentTo"} xref: UMLS:C3872848 {source="MONDO:equivalentTo"} @@ -377251,12 +377089,12 @@ synonym: "non-specific idiopathic interstitial pneumonia" EXACT [Orphanet:91364] synonym: "nonspecific interstitial pneumonia" EXACT [MONDO:0002431] synonym: "NSIP" EXACT ABBREVIATION [DOID:2801, Orphanet:91364] xref: DOID:2801 {source="MONDO:equivalentTo"} -xref: ICD10CM:J84.8 {source="Orphanet:91364", source="ORDO:91364/ntbt"} +xref: ICD10CM:J84.8 {source="Orphanet:91364/ntbt", source="Orphanet:91364"} xref: ICD9:516.8 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C35717 {source="MONDO:equivalentTo", source="DOID:2801"} xref: Orphanet:91364 {source="MONDO:equivalentTo"} xref: SCTID:129452008 {source="MONDO:equivalentTo", source="DOID:2801"} -xref: UMLS:C1290344 {source="NCIT:C35717", source="ORDO:91364/e", source="Orphanet:91364", source="MONDO:equivalentTo", source="DOID:2801"} +xref: UMLS:C1290344 {source="NCIT:C35717", source="Orphanet:91364", source="MONDO:equivalentTo", source="Orphanet:91364/e", source="DOID:2801"} is_a: MONDO:0002429 {source="DOID:2801", source="NCIT:C35717", source="Orphanet:91364", source="Wikipedia:Idiopathic_interstitial_pneumonia", source="linkedlifedata"} ! idiopathic interstitial pneumonia [Term] @@ -377275,12 +377113,12 @@ synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378] synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378] xref: DOID:14735 {source="MONDO:equivalentTo"} xref: GARD:0005979 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D84.1 {source="ORDO:91378/ntbt", source="Orphanet:91378", source="ORDO:91378/inclusion"} -xref: MedDRA:10019860 {source="ORDO:91378/e", source="Orphanet:91378"} +xref: ICD10CM:D84.1 {source="Orphanet:91378/inclusion", source="Orphanet:91378", source="Orphanet:91378/ntbt"} +xref: MedDRA:10019860 {source="Orphanet:91378", source="Orphanet:91378/e"} xref: MESH:D054179 {source="DOID:14735", source="MONDO:equivalentTo"} xref: NCIT:C84758 {source="DOID:14735", source="MONDO:equivalentTo"} -xref: OMIM:106100 {source="DOID:14735", source="MONDO:superClassOf", source="ORDO:91378/btnt", source="Orphanet:91378"} -xref: OMIM:610618 {source="DOID:14735", source="MONDO:superClassOf", source="ORDO:91378/btnt", source="Orphanet:91378"} +xref: OMIM:106100 {source="DOID:14735", source="MONDO:superClassOf", source="Orphanet:91378", source="Orphanet:91378/btnt"} +xref: OMIM:610618 {source="DOID:14735", source="MONDO:superClassOf", source="Orphanet:91378", source="Orphanet:91378/btnt"} xref: OMIMPS:106100 {source="MONDO:equivalentTo"} xref: Orphanet:91378 {source="MONDO:equivalentTo"} xref: SCTID:82966003 {source="DOID:14735", source="MONDO:equivalentTo"} @@ -377306,11 +377144,11 @@ synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385] synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385] synonym: "angioedema, acquired" RELATED [GARD:0008605] xref: GARD:0008605 {source="MONDO:equivalentTo"} -xref: ICD10CM:T78.3 {source="ORDO:91385/e", source="Orphanet:91385"} -xref: MESH:C538173 {source="ORDO:91385/e", source="Orphanet:91385", source="MONDO:equivalentTo"} -xref: OMIM:300909 {source="MONDO:superClassOf", source="ORDO:91385/btnt"} +xref: ICD10CM:T78.3 {source="Orphanet:91385", source="Orphanet:91385/e"} +xref: MESH:C538173 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} +xref: OMIM:300909 {source="Orphanet:91385/btnt", source="MONDO:superClassOf"} xref: Orphanet:91385 {source="MONDO:equivalentTo"} -xref: UMLS:C2931758 {source="ORDO:91385/e", source="Orphanet:91385", source="MONDO:equivalentTo"} +xref: UMLS:C2931758 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} is_a: MONDO:0010481 {source="MESH:C538173"} ! angioedema intersection_of: MONDO:0010481 ! angioedema intersection_of: has_modifier MONDO:0021141 ! acquired @@ -377337,21 +377175,21 @@ synonym: "familial thoracic aortic aneurysm and dissection" RELATED [GARD:000224 synonym: "FTAAD" EXACT ABBREVIATION [] xref: GARD:0001654 {source="MONDO:equivalentTo"} xref: GARD:0002249 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:I71.0 {source="Orphanet:229", source="ORDO:229/attributed", source="ORDO:229/ntbt"} -xref: ICD10CM:Q87.4 {source="Orphanet:91387", source="ORDO:91387/attributed", source="ORDO:91387/ntbt"} +xref: ICD10CM:I71.0 {source="Orphanet:229/attributed", source="Orphanet:229/ntbt", source="Orphanet:229"} +xref: ICD10CM:Q87.4 {source="Orphanet:91387", source="Orphanet:91387/attributed", source="Orphanet:91387/ntbt"} xref: ICD9:447.9 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:132900 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:607086 {source="ORDO:229/e", source="GARD:0001654", source="Orphanet:229", source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:607087 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:609192 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:91387", source="ORDO:91387/ntbt"} -xref: OMIM:610168 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:91387", source="ORDO:91387/ntbt"} -xref: OMIM:611788 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:613780 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:614816 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:615436 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:615582 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:616166 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} -xref: OMIM:617168 {source="MONDO:superClassOf", source="Orphanet:91387", source="ORDO:91387/btnt"} +xref: OMIM:132900 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:607086 {source="GARD:0001654", source="Orphanet:229", source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:229/e", source="Orphanet:91387/btnt"} +xref: OMIM:607087 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:609192 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:91387", source="Orphanet:91387/ntbt"} +xref: OMIM:610168 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:91387", source="Orphanet:91387/ntbt"} +xref: OMIM:611788 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:613780 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:614816 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:615436 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:615582 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:616166 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} +xref: OMIM:617168 {source="MONDO:superClassOf", source="Orphanet:91387", source="Orphanet:91387/btnt"} xref: OMIMPS:607086 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:229 {source="MONDO:subClassOf", source="GARD:0001654", source="OMIM:607086"} xref: Orphanet:91387 {source="MONDO:equivalentTo", source="OMIM:607086"} @@ -377370,7 +377208,7 @@ id: MONDO:0019626 name: isolated ankyloblepharon filiforme adnatum def: "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." [Orphanet:91397] subset: ordo_morphological_anomaly {source="Orphanet:91397"} -xref: ICD10CM:Q10.3 {source="Orphanet:91397", source="ORDO:91397/attributed", source="ORDO:91397/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:91397/attributed", source="Orphanet:91397/ntbt", source="Orphanet:91397"} xref: Orphanet:91397 {source="MONDO:equivalentTo"} xref: UMLS:C1302999 {source="MONDO:relatedTo", source="Orphanet:91397"} is_a: MONDO:0015217 {source="Orphanet:91397"} ! non-syndromic developmental defect of the eye @@ -377383,9 +377221,9 @@ name: isolated congenital alacrima def: "Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." [Orphanet:91416] subset: ordo_disease {source="Orphanet:91416"} synonym: "nonsyndromic congenital alacrima" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q10.6 {source="ORDO:91416/attributed", source="ORDO:91416/ntbt", source="Orphanet:91416"} -xref: OMIM:103420 {source="ORDO:91416/btnt", source="MONDO:superClassOf", source="Orphanet:91416"} -xref: OMIM:601549 {source="ORDO:91416/btnt", source="MONDO:superClassOf", source="Orphanet:91416"} +xref: ICD10CM:Q10.6 {source="Orphanet:91416/attributed", source="Orphanet:91416/ntbt", source="Orphanet:91416"} +xref: OMIM:103420 {source="MONDO:superClassOf", source="Orphanet:91416/btnt", source="Orphanet:91416"} +xref: OMIM:601549 {source="MONDO:superClassOf", source="Orphanet:91416/btnt", source="Orphanet:91416"} xref: Orphanet:91416 {source="MONDO:equivalentTo"} xref: SCTID:717262004 {source="MONDO:equivalentTo"} xref: UMLS:C1863199 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91416"} @@ -377401,11 +377239,11 @@ id: MONDO:0019628 name: Rieger anomaly def: "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." [Orphanet:91483] subset: ordo_morphological_anomaly {source="Orphanet:91483"} -xref: ICD10CM:Q13.8 {source="Orphanet:91483", source="ORDO:91483/inclusion", source="ORDO:91483/ntbt"} -xref: MedDRA:10059198 {source="ORDO:91483/e", source="Orphanet:91483"} -xref: OMIM:137600 {source="Orphanet:91483", source="MONDO:superClassOf", source="ORDO:91483/btnt"} -xref: OMIM:601631 {source="MONDO:subClassOf", source="Orphanet:91483", source="MONDO:relatedTo", source="ORDO:91483/ntbt"} -xref: OMIM:602482 {source="MONDO:subClassOf", source="Orphanet:91483", source="MONDO:relatedTo", source="ORDO:91483/ntbt"} +xref: ICD10CM:Q13.8 {source="Orphanet:91483/inclusion", source="Orphanet:91483", source="Orphanet:91483/ntbt"} +xref: MedDRA:10059198 {source="Orphanet:91483", source="Orphanet:91483/e"} +xref: OMIM:137600 {source="Orphanet:91483", source="Orphanet:91483/btnt", source="MONDO:superClassOf"} +xref: OMIM:601631 {source="MONDO:subClassOf", source="Orphanet:91483", source="MONDO:relatedTo", source="Orphanet:91483/ntbt"} +xref: OMIM:602482 {source="MONDO:subClassOf", source="Orphanet:91483", source="MONDO:relatedTo", source="Orphanet:91483/ntbt"} xref: Orphanet:91483 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:91483"} ! iridogoniodysgenesis property_value: confidence "0.9131875999999999" xsd:double @@ -377420,9 +377258,9 @@ synonym: "sclerocornea" EXACT [MONDO:ambiguous] synonym: "sclerocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060252 {source="MONDO:equivalentTo"} xref: HP:0000647 {source="DOID:0060252", source="MONDO:otherHierarchy"} -xref: ICD10CM:Q13.3 {source="ORDO:91490/specific", source="ORDO:91490/e", source="Orphanet:91490"} +xref: ICD10CM:Q13.3 {source="Orphanet:91490/specific", source="Orphanet:91490/e", source="Orphanet:91490"} xref: MESH:C565209 {source="DOID:0060252", source="MONDO:equivalentTo"} -xref: OMIM:181700 {source="DOID:0060252", source="MONDO:superClassOf", source="ORDO:91490/btnt", source="Orphanet:91490"} +xref: OMIM:181700 {source="DOID:0060252", source="MONDO:superClassOf", source="Orphanet:91490/btnt", source="Orphanet:91490"} xref: Orphanet:91490 {source="DOID:0060252", source="MONDO:equivalentTo"} xref: UMLS:C1853235 {source="DOID:0060252", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1866984 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91490"} @@ -377435,7 +377273,7 @@ id: MONDO:0019630 name: congenital ectropion uveae def: "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." [Orphanet:91491] subset: ordo_malformation_syndrome {source="Orphanet:91491"} -xref: ICD10CM:Q10.1 {source="Orphanet:91491", source="MONDO:relatedTo", source="ORDO:91491/attributed", source="ORDO:91491/ntbt"} +xref: ICD10CM:Q10.1 {source="Orphanet:91491", source="MONDO:relatedTo", source="Orphanet:91491/attributed", source="Orphanet:91491/ntbt"} xref: Orphanet:91491 {source="MONDO:equivalentTo"} is_a: MONDO:0011119 {source="Orphanet:91491"} ! iridogoniodysgenesis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -377453,16 +377291,16 @@ synonym: "persistent fetal vasculature syndrome" EXACT [Orphanet:91495] synonym: "PFVS" EXACT ABBREVIATION [Orphanet:91495] synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495] xref: DOID:0060282 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q14.0 {source="Orphanet:91495", source="ORDO:91495/attributed", source="ORDO:91495/ntbt"} -xref: MESH:D054514 {source="ORDO:91495/e", source="Orphanet:91495", source="MONDO:equivalentTo", source="DOID:0060282"} -xref: OMIM:221900 {source="Orphanet:91495", source="MONDO:superClassOf", source="ORDO:91495/btnt", source="DOID:0060282"} -xref: OMIM:611308 {source="Orphanet:91495", source="MONDO:superClassOf", source="ORDO:91495/btnt", source="DOID:0060282"} +xref: ICD10CM:Q14.0 {source="Orphanet:91495/attributed", source="Orphanet:91495/ntbt", source="Orphanet:91495"} +xref: MESH:D054514 {source="Orphanet:91495", source="MONDO:equivalentTo", source="Orphanet:91495/e", source="DOID:0060282"} +xref: OMIM:221900 {source="Orphanet:91495/btnt", source="Orphanet:91495", source="MONDO:superClassOf", source="DOID:0060282"} +xref: OMIM:611308 {source="Orphanet:91495/btnt", source="Orphanet:91495", source="MONDO:superClassOf", source="DOID:0060282"} xref: OMIMPS:221900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:91495 {source="MONDO:equivalentTo", source="DOID:0060282"} xref: SCTID:314270008 {source="MONDO:equivalentTo", source="DOID:0060282"} xref: SCTID:44647001 {source="DOID:0060282"} xref: SCTID:69927002 {source="DOID:0060282"} -xref: UMLS:C0266568 {source="ORDO:91495/e", source="Orphanet:91495", source="MONDO:notFoundInDiseaseSubset", source="DOID:0060282"} +xref: UMLS:C0266568 {source="Orphanet:91495", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91495/e", source="DOID:0060282"} xref: UMLS:C1857299 {source="Orphanet:91495", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0004860 {source="DOID:0060282"} ! vitreous disorder is_a: MONDO:0020225 {source="Orphanet:91495"} ! syndromic cataract @@ -377489,11 +377327,11 @@ synonym: "neurological Lyme disease" EXACT [DOID:11729] xref: DOID:11729 {source="MONDO:equivalentTo"} xref: EFO:0008510 {source="MONDO:equivalentTo"} xref: GARD:0012073 {source="MONDO:equivalentTo"} -xref: ICD10CM:A69.2 {source="MONDO:equivalentTo", source="DOID:11729", source="ORDO:91546/e", source="Orphanet:91546"} +xref: ICD10CM:A69.2 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} xref: ICD10CM:A69.20 {source="DOID:11729"} xref: ICD9:088.81 {source="DOID:11729"} -xref: MedDRA:10025169 {source="ORDO:91546/e", source="Orphanet:91546"} -xref: MESH:D008193 {source="MONDO:equivalentTo", source="DOID:11729", source="ORDO:91546/e", source="Orphanet:91546"} +xref: MedDRA:10025169 {source="Orphanet:91546/e", source="Orphanet:91546"} +xref: MESH:D008193 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} xref: MESH:D020852 {source="DOID:11729"} xref: NCIT:C45161 {source="MONDO:equivalentTo", source="DOID:11729"} xref: Orphanet:91546 {source="MONDO:equivalentTo"} @@ -377501,7 +377339,7 @@ xref: SCTID:154376000 {source="DOID:11729"} xref: SCTID:23502006 {source="DOID:11729"} xref: SCTID:240672009 {source="DOID:11729"} xref: SCTID:48982009 {source="MONDO:equivalentTo", source="DOID:11729"} -xref: UMLS:C0024198 {source="NCIT:C45161", source="MONDO:equivalentTo", source="DOID:11729", source="ORDO:91546/e", source="Orphanet:91546"} +xref: UMLS:C0024198 {source="NCIT:C45161", source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"} xref: UMLS:C0752235 {source="MONDO:notFoundInDiseaseSubset", source="DOID:11729"} is_a: MONDO:0000314 {source="DOID:11729"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="DOID:11729/inferred", source="EFO:0008510/inferred", source="MESH:D008193/inferred", source="MONDO:Redundant", source="NCIT:C45161", source="Orphanet:91546", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease @@ -377522,20 +377360,20 @@ def: "Relapsing fever is an infection caused by bacteria of the genus Borrelia, subset: ordo_disease {source="Orphanet:91547"} xref: DOID:13034 {source="MONDO:equivalentTo"} xref: ICD10CM:A68 {source="MONDO:equivalentTo", source="DOID:13034"} -xref: ICD10CM:A68.0 {source="ORDO:91547/btnt", source="MONDO:superClassOf", source="Orphanet:91547"} -xref: ICD10CM:A68.1 {source="ORDO:91547/btnt", source="MONDO:superClassOf", source="Orphanet:91547"} -xref: ICD10CM:A68.9 {source="ORDO:91547/btnt", source="DOID:13034", source="Orphanet:91547"} +xref: ICD10CM:A68.0 {source="MONDO:superClassOf", source="Orphanet:91547/btnt", source="Orphanet:91547"} +xref: ICD10CM:A68.1 {source="MONDO:superClassOf", source="Orphanet:91547/btnt", source="Orphanet:91547"} +xref: ICD10CM:A68.9 {source="Orphanet:91547/btnt", source="DOID:13034", source="Orphanet:91547"} xref: ICD9:087 {source="DOID:13034"} xref: ICD9:087.9 {source="MONDO:equivalentTo", source="i2s", source="DOID:13034"} -xref: MedDRA:10038300 {source="ORDO:91547/e", source="Orphanet:91547"} -xref: MESH:D012061 {source="MONDO:equivalentTo", source="ORDO:91547/e", source="DOID:13034", source="Orphanet:91547"} +xref: MedDRA:10038300 {source="Orphanet:91547/e", source="Orphanet:91547"} +xref: MESH:D012061 {source="Orphanet:91547/e", source="MONDO:equivalentTo", source="DOID:13034", source="Orphanet:91547"} xref: Orphanet:91547 {source="MONDO:equivalentTo"} xref: SCTID:186820006 {source="DOID:13034"} xref: SCTID:186822003 {source="DOID:13034"} xref: SCTID:187374004 {source="DOID:13034"} xref: SCTID:420079008 {source="MONDO:equivalentTo", source="DOID:13034"} xref: SCTID:46107006 {source="DOID:13034"} -xref: UMLS:C0035021 {source="MONDO:equivalentTo", source="ORDO:91547/e", source="DOID:13034", source="Orphanet:91547"} +xref: UMLS:C0035021 {source="Orphanet:91547/e", source="MONDO:equivalentTo", source="DOID:13034", source="Orphanet:91547"} is_a: MONDO:0000314 {source="DOID:13034"} ! primary bacterial infectious disease is_a: MONDO:0005113 {source="Orphanet:91547"} ! bacterial infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease @@ -377549,7 +377387,7 @@ def: "Familial nasal acilia is a rare genetic otorhinolaryngologic disease chara subset: gard_rare {source="GARD:0002254"} subset: ordo_disease {source="Orphanet:922"} xref: GARD:0002254 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q30.8 {source="Orphanet:922", source="ORDO:922/attributed", source="ORDO:922/ntbt"} +xref: ICD10CM:Q30.8 {source="Orphanet:922/attributed", source="Orphanet:922/ntbt", source="Orphanet:922"} xref: Orphanet:922 {source="MONDO:equivalentTo"} xref: SCTID:763532008 {source="MONDO:equivalentTo"} xref: UMLS:CN206502 {source="MONDO:equivalentTo"} @@ -377567,14 +377405,14 @@ synonym: "achalasia cardia" EXACT [Orphanet:930] synonym: "idiopathic achalasia of esophagus" EXACT [Orphanet:930] synonym: "primary achalasia" EXACT [Orphanet:930] xref: GARD:0005708 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:K22.0 {source="Orphanet:930", source="ORDO:930/e"} -xref: MedDRA:10036669 {source="Orphanet:930", source="ORDO:930/e"} -xref: MESH:C536011 {source="Orphanet:930", source="ORDO:930/e"} -xref: OMIM:200400 {source="Orphanet:930", source="MONDO:directSiblingOf", source="ORDO:930/btnt"} +xref: ICD10CM:K22.0 {source="Orphanet:930", source="Orphanet:930/e"} +xref: MedDRA:10036669 {source="Orphanet:930", source="Orphanet:930/e"} +xref: MESH:C536011 {source="Orphanet:930", source="Orphanet:930/e"} +xref: OMIM:200400 {source="Orphanet:930/btnt", source="Orphanet:930", source="MONDO:directSiblingOf"} xref: Orphanet:930 {source="MONDO:equivalentTo"} xref: SCTID:715192004 {source="MONDO:equivalentTo"} xref: UMLS:C0014848 {source="Orphanet:930", source="MONDO:superClassOf"} -xref: UMLS:C0859976 {source="Orphanet:930", source="MONDO:equivalentTo", source="ORDO:930/e"} +xref: UMLS:C0859976 {source="Orphanet:930", source="MONDO:equivalentTo", source="Orphanet:930/e"} xref: UMLS:C1860213 {source="MONDO:directSiblingOf"} is_a: MONDO:0015111 {source="Orphanet:930"} ! gastroesophageal disease intersection_of: MONDO:0008698 ! achalasia @@ -377590,11 +377428,11 @@ subset: ordo_clinical_subtype {source="Orphanet:93100"} synonym: "congenital single kidney" EXACT [NCIT:C101220] synonym: "congenital solitary kidney" EXACT [NCIT:C101220] synonym: "unilateral renal agenesis" EXACT [NCIT:C101220] -xref: ICD10CM:Q60.0 {source="ORDO:93100/e", source="Orphanet:93100", source="ORDO:93100/specific", source="MONDO:equivalentTo"} -xref: MedDRA:10053624 {source="ORDO:93100/e", source="Orphanet:93100"} +xref: ICD10CM:Q60.0 {source="Orphanet:93100", source="MONDO:equivalentTo", source="Orphanet:93100/e", source="Orphanet:93100/specific"} +xref: MedDRA:10053624 {source="Orphanet:93100", source="Orphanet:93100/e"} xref: NCIT:C101220 {source="MONDO:equivalentTo"} xref: Orphanet:93100 {source="MONDO:equivalentTo"} -xref: UMLS:C0266294 {source="ORDO:93100/e", source="Orphanet:93100", source="MONDO:equivalentTo", source="NCIT:C101220"} +xref: UMLS:C0266294 {source="Orphanet:93100", source="MONDO:equivalentTo", source="NCIT:C101220", source="Orphanet:93100/e"} is_a: MONDO:0018470 {source="NCIT:C101220", source="Orphanet:93100"} ! renal agenesis [Term] @@ -377606,10 +377444,10 @@ synonym: "renal hypoplasia" EXACT [MONDO:ambiguous] synonym: "renal hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080204 {source="MONDO:equivalentTo"} xref: HP:0000089 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q60.3 {source="ORDO:93101/e", source="ORDO:93101/specific", source="Orphanet:93101", source="MONDO:superClassOf"} -xref: ICD10CM:Q60.4 {source="ORDO:93101/e", source="ORDO:93101/specific", source="Orphanet:93101", source="MONDO:superClassOf"} -xref: ICD10CM:Q60.5 {source="ORDO:93101/e", source="ORDO:93101/specific", source="Orphanet:93101"} -xref: MedDRA:10049102 {source="ORDO:93101/e", source="Orphanet:93101"} +xref: ICD10CM:Q60.3 {source="Orphanet:93101", source="MONDO:superClassOf", source="Orphanet:93101/specific", source="Orphanet:93101/e"} +xref: ICD10CM:Q60.4 {source="Orphanet:93101", source="MONDO:superClassOf", source="Orphanet:93101/specific", source="Orphanet:93101/e"} +xref: ICD10CM:Q60.5 {source="Orphanet:93101", source="Orphanet:93101/specific", source="Orphanet:93101/e"} +xref: MedDRA:10049102 {source="Orphanet:93101", source="Orphanet:93101/e"} xref: Orphanet:93101 {source="MONDO:equivalentTo", source="DOID:0080204"} xref: SCTID:32659003 {source="MONDO:equivalentTo"} xref: UMLS:C0266295 {source="Orphanet:93101", source="MONDO:notFoundInDiseaseSubset"} @@ -377628,7 +377466,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:93108"} synonym: "renal dysplasia" EXACT [MONDO:ambiguous] synonym: "renal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000110 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q61.4 {source="ORDO:93108/e", source="Orphanet:93108", source="ORDO:93108/specific"} +xref: ICD10CM:Q61.4 {source="Orphanet:93108/e", source="Orphanet:93108/specific", source="Orphanet:93108"} xref: Orphanet:93108 {source="MONDO:equivalentTo"} xref: UMLS:C3536714 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93108"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:93108", source="Orphanet:93108/inferred"} ! kidney disorder @@ -377642,7 +377480,7 @@ id: MONDO:0019639 name: congenital megacalycosis def: "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." [Orphanet:93109] subset: ordo_morphological_anomaly {source="Orphanet:93109"} -xref: ICD10CM:Q63.8 {source="ORDO:93109/ntbt", source="Orphanet:93109"} +xref: ICD10CM:Q63.8 {source="Orphanet:93109/ntbt", source="Orphanet:93109"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:93109 {source="MONDO:equivalentTo"} xref: SCTID:85901000 {source="MONDO:equivalentTo"} @@ -377659,14 +377497,14 @@ synonym: "congenital posterior urethral valves" EXACT [NCIT:C99021] synonym: "Posterior urethral valves" RELATED [GARD:0007439] synonym: "PUV" EXACT ABBREVIATION [Orphanet:93110] xref: GARD:0007439 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q64.2 {source="Orphanet:93110", source="ORDO:93110/attributed", source="ORDO:93110/ntbt"} +xref: ICD10CM:Q64.2 {source="Orphanet:93110/attributed", source="Orphanet:93110/ntbt", source="Orphanet:93110"} xref: ICD9:753.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10036369 {source="Orphanet:93110", source="ORDO:93110/e"} +xref: MedDRA:10036369 {source="Orphanet:93110", source="Orphanet:93110/e"} xref: NCIT:C99021 {source="MONDO:equivalentTo"} xref: Orphanet:93110 {source="MONDO:equivalentTo"} xref: SCTID:253900005 {source="MONDO:equivalentTo"} -xref: UMLS:C0238506 {source="Orphanet:93110", source="NCIT:C99021", source="MONDO:equivalentTo", source="ORDO:93110/e"} -xref: UMLS:C0542520 {source="Orphanet:93110", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93110/e"} +xref: UMLS:C0238506 {source="Orphanet:93110", source="NCIT:C99021", source="MONDO:equivalentTo", source="Orphanet:93110/e"} +xref: UMLS:C0542520 {source="Orphanet:93110", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93110/e"} xref: UMLS:CN227669 {source="MONDO:equivalentTo"} is_a: MONDO:0018559 {source="Orphanet:93110"} ! fetal lower urinary tract obstruction @@ -377675,7 +377513,7 @@ id: MONDO:0019641 name: pauci-immune glomerulonephritis def: "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." [Orphanet:93126] subset: ordo_disease {source="Orphanet:93126"} -xref: ICD10CM:N05.7 {source="ORDO:93126/ntbt", source="Orphanet:93126"} +xref: ICD10CM:N05.7 {source="Orphanet:93126", source="Orphanet:93126/ntbt"} xref: Orphanet:93126 {source="MONDO:equivalentTo"} is_a: MONDO:0002462 ! glomerulonephritis is_a: MONDO:0019724 {source="Orphanet:93126"} ! secondary glomerular disease @@ -377698,10 +377536,10 @@ synonym: "vitamin D receptor deficiency" EXACT [NCIT:C131077] synonym: "vitamin D-dependent rickets type II" EXACT [Orphanet:93160] synonym: "vitamin D-dependent rickets, type 2" EXACT [MONDO:cjm] synonym: "vitamin D-resistant rickets type II" EXACT [Orphanet:93160] -xref: ICD10CM:E83.3 {source="ORDO:93160/attributed", source="ORDO:93160/ntbt", source="MONDO:relatedTo", source="Orphanet:93160"} +xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:93160/attributed", source="Orphanet:93160/ntbt", source="Orphanet:93160"} xref: NCIT:C131077 {source="MONDO:equivalentTo"} -xref: OMIM:277440 {source="MONDO:superClassOf", source="ORDO:93160/e", source="Orphanet:93160"} -xref: OMIM:600785 {source="ORDO:93160/btnt", source="MONDO:superClassOf", source="Orphanet:93160"} +xref: OMIM:277440 {source="Orphanet:93160/e", source="MONDO:superClassOf", source="Orphanet:93160"} +xref: OMIM:600785 {source="MONDO:superClassOf", source="Orphanet:93160/btnt", source="Orphanet:93160"} xref: Orphanet:93160 {source="MONDO:equivalentTo"} xref: SCTID:72831007 {source="MONDO:equivalentTo"} xref: UMLS:C3536983 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93160"} @@ -377715,7 +377553,7 @@ name: transient pseudohypoaldosteronism def: "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." [Orphanet:93164] subset: ordo_malformation_syndrome {source="Orphanet:93164"} synonym: "TPHA" EXACT ABBREVIATION [Orphanet:93164] -xref: ICD10CM:N15.8 {source="Orphanet:93164", source="ORDO:93164/ntbt"} +xref: ICD10CM:N15.8 {source="Orphanet:93164", source="Orphanet:93164/ntbt"} xref: Orphanet:93164 {source="MONDO:equivalentTo"} xref: SCTID:717263009 {source="MONDO:equivalentTo"} xref: UMLS:C4273962 {source="MONDO:equivalentTo"} @@ -377731,9 +377569,9 @@ def: "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal trac subset: ordo_clinical_subtype {source="Orphanet:93172"} synonym: "unilateral renal dysplasia" EXACT [HP:0008718] xref: HP:0008718 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q61.4 {source="ORDO:93172/attributed", source="ORDO:93172/ntbt", source="Orphanet:93172"} +xref: ICD10CM:Q61.4 {source="Orphanet:93172/attributed", source="Orphanet:93172/ntbt", source="Orphanet:93172"} xref: Orphanet:93172 {source="MONDO:equivalentTo"} -xref: UMLS:C0431697 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:93172/e", source="Orphanet:93172"} +xref: UMLS:C0431697 {source="Orphanet:93172/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93172"} is_a: MONDO:0019638 {source="Orphanet:93172"} ! renal dysplasia [Term] @@ -377743,17 +377581,17 @@ def: "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract subset: ordo_clinical_subtype {source="Orphanet:93173"} synonym: "bilateral renal dysplasia" EXACT [HP:0012582] xref: HP:0012582 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q61.4 {source="ORDO:93173/attributed", source="ORDO:93173/ntbt", source="Orphanet:93173"} +xref: ICD10CM:Q61.4 {source="Orphanet:93173/attributed", source="Orphanet:93173/ntbt", source="Orphanet:93173"} xref: Orphanet:93173 {source="MONDO:equivalentTo"} xref: SCTID:204950001 {source="MONDO:equivalentTo"} -xref: UMLS:C0431698 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:93173/e", source="Orphanet:93173"} +xref: UMLS:C0431698 {source="Orphanet:93173/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93173"} is_a: MONDO:0019638 {source="Orphanet:93173"} ! renal dysplasia [Term] id: MONDO:0019646 name: unilateral congenital megacalycosis subset: ordo_clinical_subtype {source="Orphanet:93176"} -xref: ICD10CM:Q63.8 {source="Orphanet:93176", source="ORDO:93176/ntbt"} +xref: ICD10CM:Q63.8 {source="Orphanet:93176/ntbt", source="Orphanet:93176"} xref: Orphanet:93176 {source="MONDO:equivalentTo"} is_a: MONDO:0019639 {source="Orphanet:93176"} ! congenital megacalycosis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -377763,7 +377601,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0019647 name: congenital bilateral megacalycosis subset: ordo_clinical_subtype {source="Orphanet:93177"} -xref: ICD10CM:Q63.8 {source="Orphanet:93177", source="ORDO:93177/ntbt"} +xref: ICD10CM:Q63.8 {source="Orphanet:93177", source="Orphanet:93177/ntbt"} xref: Orphanet:93177 {source="MONDO:equivalentTo"} is_a: MONDO:0019639 {source="Orphanet:93177"} ! congenital megacalycosis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -377777,17 +377615,17 @@ subset: gard_rare {source="GARD:0002882"} subset: ordo_disease {source="Orphanet:932"} xref: DOID:0080043 {source="MONDO:equivalentTo"} xref: GARD:0002882 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.0 {source="ORDO:932/e", source="ORDO:932/specific", source="Orphanet:932", source="MONDO:equivalentTo"} -xref: MedDRA:10066122 {source="ORDO:932/e", source="Orphanet:932"} +xref: ICD10CM:Q77.0 {source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/specific", source="Orphanet:932/e"} +xref: MedDRA:10066122 {source="Orphanet:932", source="Orphanet:932/e"} xref: MESH:C579878 {source="MONDO:equivalentTo"} xref: NCIT:C84527 {source="MONDO:equivalentTo"} -xref: OMIM:200600 {source="Orphanet:932", source="MONDO:superClassOf", source="ORDO:932/btnt"} -xref: OMIM:200610 {source="Orphanet:932", source="MONDO:superClassOf", source="ORDO:932/btnt"} -xref: OMIM:600972 {source="Orphanet:932", source="MONDO:superClassOf", source="ORDO:932/btnt"} +xref: OMIM:200600 {source="Orphanet:932/btnt", source="Orphanet:932", source="MONDO:superClassOf"} +xref: OMIM:200610 {source="Orphanet:932/btnt", source="Orphanet:932", source="MONDO:superClassOf"} +xref: OMIM:600972 {source="Orphanet:932/btnt", source="Orphanet:932", source="MONDO:superClassOf"} xref: OMIMPS:200600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:932 {source="MONDO:equivalentTo"} xref: SCTID:2391001 {source="MONDO:equivalentTo"} -xref: UMLS:C0001079 {source="ORDO:932/e", source="NCIT:C84527", source="Orphanet:932", source="MONDO:equivalentTo"} +xref: UMLS:C0001079 {source="NCIT:C84527", source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/e"} is_a: MONDO:0005516 {source="DOID:0080043", source="MESH:C579878"} ! osteochondrodysplasia is_a: MONDO:0019694 {source="Orphanet:932"} ! spondylodysplastic dysplasia relationship: disease_has_feature HP:0000774 ! Narrow chest @@ -377800,7 +377638,7 @@ id: MONDO:0019649 name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis subset: ordo_histopathological_subtype {source="Orphanet:93206"} synonym: "idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93206] -xref: ICD10CM:N04.1 {source="ORDO:93206/attributed", source="ORDO:93206/ntbt", source="Orphanet:93206"} +xref: ICD10CM:N04.1 {source="Orphanet:93206/attributed", source="Orphanet:93206/ntbt", source="Orphanet:93206"} xref: Orphanet:93206 {source="MONDO:equivalentTo"} xref: UMLS:CN206521 {source="MONDO:equivalentTo"} is_a: MONDO:0019067 {source="Orphanet:93206"} ! idiopathic steroid-sensitive nephrotic syndrome @@ -377810,7 +377648,7 @@ id: MONDO:0019650 name: idiopathic steroid-sensitive nephrotic syndrome with minimal change subset: ordo_histopathological_subtype {source="Orphanet:93207"} synonym: "steroid-sensitive MCNS" EXACT [Orphanet:93207] -xref: ICD10CM:N04.0 {source="ORDO:93207/attributed", source="ORDO:93207/ntbt", source="Orphanet:93207"} +xref: ICD10CM:N04.0 {source="Orphanet:93207", source="Orphanet:93207/attributed", source="Orphanet:93207/ntbt"} xref: Orphanet:93207 {source="MONDO:equivalentTo"} xref: UMLS:CN206522 {source="MONDO:equivalentTo"} is_a: MONDO:0019067 {source="Orphanet:93207"} ! idiopathic steroid-sensitive nephrotic syndrome @@ -377819,7 +377657,7 @@ is_a: MONDO:0019067 {source="Orphanet:93207"} ! idiopathic steroid-sensitive nep id: MONDO:0019651 name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation subset: ordo_histopathological_subtype {source="Orphanet:93209"} -xref: ICD10CM:N04.3 {source="ORDO:93209/attributed", source="ORDO:93209/ntbt", source="Orphanet:93209"} +xref: ICD10CM:N04.3 {source="Orphanet:93209/attributed", source="Orphanet:93209/ntbt", source="Orphanet:93209"} xref: Orphanet:93209 {source="MONDO:equivalentTo"} xref: UMLS:CN206523 {source="MONDO:equivalentTo"} is_a: MONDO:0019067 {source="Orphanet:93209"} ! idiopathic steroid-sensitive nephrotic syndrome @@ -377828,7 +377666,7 @@ is_a: MONDO:0019067 {source="Orphanet:93209"} ! idiopathic steroid-sensitive nep id: MONDO:0019652 name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation subset: ordo_histopathological_subtype {source="Orphanet:93214"} -xref: ICD10CM:N04.3 {source="ORDO:93214/attributed", source="ORDO:93214/ntbt", source="Orphanet:93214"} +xref: ICD10CM:N04.3 {source="Orphanet:93214", source="Orphanet:93214/attributed", source="Orphanet:93214/ntbt"} xref: Orphanet:93214 {source="MONDO:equivalentTo"} xref: UMLS:CN206525 {source="MONDO:equivalentTo"} is_a: MONDO:0019006 {source="Orphanet:93214"} ! familial idiopathic steroid-resistant nephrotic syndrome @@ -377837,7 +377675,7 @@ is_a: MONDO:0019006 {source="Orphanet:93214"} ! familial idiopathic steroid-resi id: MONDO:0019653 name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes subset: ordo_histopathological_subtype {source="Orphanet:93216"} -xref: ICD10CM:N04.0 {source="ORDO:93216/attributed", source="ORDO:93216/ntbt", source="Orphanet:93216"} +xref: ICD10CM:N04.0 {source="Orphanet:93216", source="Orphanet:93216/attributed", source="Orphanet:93216/ntbt"} xref: Orphanet:93216 {source="MONDO:equivalentTo"} xref: UMLS:CN206526 {source="MONDO:equivalentTo"} is_a: MONDO:0019006 {source="Orphanet:93216"} ! familial idiopathic steroid-resistant nephrotic syndrome @@ -377846,7 +377684,7 @@ is_a: MONDO:0019006 {source="Orphanet:93216"} ! familial idiopathic steroid-resi id: MONDO:0019654 name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis subset: ordo_histopathological_subtype {source="Orphanet:93217"} -xref: ICD10CM:N04.8 {source="ORDO:93217/attributed", source="ORDO:93217/ntbt", source="Orphanet:93217"} +xref: ICD10CM:N04.8 {source="Orphanet:93217/attributed", source="Orphanet:93217/ntbt", source="Orphanet:93217"} xref: Orphanet:93217 {source="MONDO:equivalentTo"} xref: UMLS:CN206527 {source="MONDO:equivalentTo"} is_a: MONDO:0019006 {source="Orphanet:93217"} ! familial idiopathic steroid-resistant nephrotic syndrome @@ -377856,7 +377694,7 @@ id: MONDO:0019655 name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis subset: ordo_histopathological_subtype {source="Orphanet:93218"} synonym: "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93218] -xref: ICD10CM:N04.1 {source="ORDO:93218/attributed", source="ORDO:93218/ntbt", source="Orphanet:93218"} +xref: ICD10CM:N04.1 {source="Orphanet:93218", source="Orphanet:93218/attributed", source="Orphanet:93218/ntbt"} xref: Orphanet:93218 {source="MONDO:equivalentTo"} xref: UMLS:CN206528 {source="MONDO:equivalentTo"} is_a: MONDO:0019401 {source="Orphanet:93218"} ! sporadic idiopathic steroid-resistant nephrotic syndrome @@ -377865,7 +377703,7 @@ is_a: MONDO:0019401 {source="Orphanet:93218"} ! sporadic idiopathic steroid-resi id: MONDO:0019656 name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis subset: ordo_histopathological_subtype {source="Orphanet:93220"} -xref: ICD10CM:N04.8 {source="Orphanet:93220", source="ORDO:93220/attributed", source="ORDO:93220/ntbt"} +xref: ICD10CM:N04.8 {source="Orphanet:93220/attributed", source="Orphanet:93220/ntbt", source="Orphanet:93220"} xref: Orphanet:93220 {source="MONDO:equivalentTo"} xref: UMLS:CN206529 {source="MONDO:equivalentTo"} is_a: MONDO:0019401 {source="Orphanet:93220"} ! sporadic idiopathic steroid-resistant nephrotic syndrome @@ -377874,7 +377712,7 @@ is_a: MONDO:0019401 {source="Orphanet:93220"} ! sporadic idiopathic steroid-resi id: MONDO:0019657 name: obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes comment: Obsolete in Orphanet -xref: ICD10CM:N04.0 {source="Orphanet:93221", source="ORDO:93221/attributed", source="ORDO:93221/ntbt"} +xref: ICD10CM:N04.0 {source="Orphanet:93221", source="Orphanet:93221/attributed", source="Orphanet:93221/ntbt"} xref: Orphanet:93221 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206530 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -377884,7 +377722,7 @@ consider: MONDO:0019006 id: MONDO:0019658 name: obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation comment: Obsolete in Orphanet -xref: ICD10CM:N04.3 {source="Orphanet:93222", source="ORDO:93222/attributed", source="ORDO:93222/ntbt"} +xref: ICD10CM:N04.3 {source="Orphanet:93222/attributed", source="Orphanet:93222/ntbt", source="Orphanet:93222"} xref: Orphanet:93222 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN206531 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -377897,7 +377735,7 @@ def: "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfei subset: ordo_clinical_subtype {source="Orphanet:93258"} synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258] synonym: "Pfeiffer syndrome type 1" EXACT CLINGEN_PREFERRED [] -xref: ICD10CM:Q87.0 {source="ORDO:93258/attributed", source="ORDO:93258/ntbt", source="Orphanet:93258"} +xref: ICD10CM:Q87.0 {source="Orphanet:93258", source="Orphanet:93258/attributed", source="Orphanet:93258/ntbt"} xref: Orphanet:93258 {source="MONDO:equivalentTo"} xref: UMLS:CN206533 {source="MONDO:equivalentTo"} is_a: MONDO:0007043 {source="Orphanet:93258"} ! Pfeiffer syndrome @@ -377907,7 +377745,7 @@ id: MONDO:0019660 name: Pfeiffer syndrome type 2 def: "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." [Orphanet:93259] subset: ordo_clinical_subtype {source="Orphanet:93259"} -xref: ICD10CM:Q87.0 {source="ORDO:93259/attributed", source="ORDO:93259/ntbt", source="Orphanet:93259"} +xref: ICD10CM:Q87.0 {source="Orphanet:93259", source="Orphanet:93259/attributed", source="Orphanet:93259/ntbt"} xref: Orphanet:93259 {source="MONDO:equivalentTo"} xref: UMLS:CN206534 {source="MONDO:equivalentTo"} is_a: MONDO:0007043 {source="Orphanet:93259"} ! Pfeiffer syndrome @@ -377917,7 +377755,7 @@ id: MONDO:0019661 name: Pfeiffer syndrome type 3 def: "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." [Orphanet:93260] subset: ordo_clinical_subtype {source="Orphanet:93260"} -xref: ICD10CM:Q87.0 {source="ORDO:93260/attributed", source="ORDO:93260/ntbt", source="Orphanet:93260"} +xref: ICD10CM:Q87.0 {source="Orphanet:93260/attributed", source="Orphanet:93260/ntbt", source="Orphanet:93260"} xref: Orphanet:93260 {source="MONDO:equivalentTo"} xref: UMLS:CN206535 {source="MONDO:equivalentTo"} is_a: MONDO:0007043 {source="Orphanet:93260"} ! Pfeiffer syndrome @@ -377931,10 +377769,10 @@ synonym: "short rib-polydactyly syndrome Majewski type" RELATED [GARD:0004833] synonym: "short rib-polydactyly syndrome type 2" EXACT [Orphanet:93269] synonym: "SRPS type 2" RELATED [GARD:0004833] xref: GARD:0004833 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.2 {source="ORDO:93269/attributed", source="ORDO:93269/ntbt", source="Orphanet:93269"} +xref: ICD10CM:Q77.2 {source="Orphanet:93269", source="Orphanet:93269/attributed", source="Orphanet:93269/ntbt"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:263520 {source="ORDO:93269/btnt", source="Orphanet:93269", source="MONDO:superClassOf"} -xref: OMIM:613091 {source="ORDO:93269/btnt", source="Orphanet:93269", source="MONDO:superClassOf"} +xref: OMIM:263520 {source="Orphanet:93269", source="MONDO:superClassOf", source="Orphanet:93269/btnt"} +xref: OMIM:613091 {source="Orphanet:93269", source="MONDO:superClassOf", source="Orphanet:93269/btnt"} xref: Orphanet:93269 {source="MONDO:equivalentTo"} xref: SCTID:72922008 {source="MONDO:equivalentTo"} xref: UMLS:C0024507 {source="Orphanet:93269", source="MONDO:notFoundInDiseaseSubset"} @@ -377962,16 +377800,16 @@ synonym: "short rib-polydactyly syndrome type III" RELATED [GARD:0004835] synonym: "SRPS type 3" RELATED [GARD:0004835] synonym: "Verma Naumoff syndrome" RELATED [GARD:0004835] xref: GARD:0004835 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q77.2 {source="ORDO:93271/attributed", source="ORDO:93271/ntbt", source="Orphanet:93271"} +xref: ICD10CM:Q77.2 {source="Orphanet:93271/attributed", source="Orphanet:93271/ntbt", source="Orphanet:93271"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537602 {source="MONDO:equivalentTo", source="ORDO:93271/e", source="Orphanet:93271"} -xref: OMIM:613091 {source="ORDO:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} -xref: OMIM:614091 {source="ORDO:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} -xref: OMIM:615503 {source="ORDO:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} -xref: OMIM:615633 {source="ORDO:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} +xref: MESH:C537602 {source="Orphanet:93271/e", source="MONDO:equivalentTo", source="Orphanet:93271"} +xref: OMIM:613091 {source="Orphanet:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} +xref: OMIM:614091 {source="Orphanet:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} +xref: OMIM:615503 {source="Orphanet:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} +xref: OMIM:615633 {source="Orphanet:93271/btnt", source="MONDO:superClassOf", source="Orphanet:93271"} xref: Orphanet:93271 {source="MONDO:equivalentTo"} xref: SCTID:254051008 {source="MONDO:equivalentTo"} -xref: UMLS:C0432197 {source="MONDO:equivalentTo", source="ORDO:93271/e", source="Orphanet:93271"} +xref: UMLS:C0432197 {source="Orphanet:93271/e", source="MONDO:equivalentTo", source="Orphanet:93271"} is_a: MONDO:0015246 {source="Orphanet:93271"} ! syndromic anorectal malformation is_a: MONDO:0015461 {source="MESH:C537602", source="Orphanet:93271", source="linkedlifedata"} ! short rib-polydactyly syndrome relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4148 @@ -377988,13 +377826,13 @@ synonym: "monostotic fibrous dysplasia (disease)" EXACT [https://orcid.org/0000- synonym: "monostotic fibrous dysplasia of bone" EXACT [NCIT:C53971] xref: HP:0010736 {source="MONDO:otherHierarchy"} xref: ICD10CM:M85.0 {source="Orphanet:93277"} -xref: ICD10CM:Q78.1 {source="ORDO:93277/attributed", source="ORDO:93277/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q78.1 {source="Orphanet:93277/attributed", source="Orphanet:93277/ntbt", source="MONDO:directSiblingOf"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D005358 {source="ORDO:93277/e", source="Orphanet:93277", source="MONDO:equivalentTo"} +xref: MESH:D005358 {source="Orphanet:93277", source="MONDO:equivalentTo", source="Orphanet:93277/e"} xref: NCIT:C53971 {source="MONDO:equivalentTo"} xref: Orphanet:93277 {source="MONDO:equivalentTo"} xref: SCTID:89859004 {source="MONDO:equivalentTo"} -xref: UMLS:C0016064 {source="ORDO:93277/e", source="Orphanet:93277", source="MONDO:equivalentTo", source="NCIT:C53971"} +xref: UMLS:C0016064 {source="Orphanet:93277", source="MONDO:equivalentTo", source="NCIT:C53971", source="Orphanet:93277/e"} is_a: MONDO:0000845 {source="MESH:D005358", source="Orphanet:93277", source="linkedlifedata"} ! fibrous dysplasia property_value: IAO:0000589 "monostotic fibrous dysplasia (disease)" xsd:string @@ -378011,8 +377849,8 @@ synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847] synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812] synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282] xref: DOID:0050812 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:93282/attributed", source="ORDO:93282/ntbt", source="Orphanet:93282"} -xref: OMIM:612847 {source="ORDO:93282/ntbt", source="MONDO:equivalentTo", source="DOID:0050812", source="Orphanet:93282"} +xref: ICD10CM:Q77.7 {source="Orphanet:93282/attributed", source="Orphanet:93282/ntbt", source="Orphanet:93282"} +xref: OMIM:612847 {source="MONDO:equivalentTo", source="Orphanet:93282/ntbt", source="DOID:0050812", source="Orphanet:93282"} xref: Orphanet:93282 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:612847"} xref: SCTID:719172003 {source="MONDO:equivalentTo"} xref: UMLS:C2748515 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847", source="Orphanet:93282"} @@ -378030,11 +377868,11 @@ name: spondyloepiphyseal dysplasia tarda def: "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." [Orphanet:93284] subset: ordo_disease {source="Orphanet:93284"} xref: DOID:0080362 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="Orphanet:93284", source="ORDO:93284/attributed", source="ORDO:93284/ntbt"} +xref: ICD10CM:Q77.7 {source="Orphanet:93284", source="Orphanet:93284/attributed", source="Orphanet:93284/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:184100 {source="Orphanet:93284", source="MONDO:superClassOf", source="ORDO:93284/btnt"} -xref: OMIM:271600 {source="Orphanet:93284", source="MONDO:superClassOf", source="ORDO:93284/btnt"} -xref: OMIM:313400 {source="Orphanet:93284", source="MONDO:superClassOf", source="ORDO:93284/btnt"} +xref: OMIM:184100 {source="Orphanet:93284", source="Orphanet:93284/btnt", source="MONDO:superClassOf"} +xref: OMIM:271600 {source="Orphanet:93284", source="Orphanet:93284/btnt", source="MONDO:superClassOf"} +xref: OMIM:313400 {source="Orphanet:93284", source="Orphanet:93284/btnt", source="MONDO:superClassOf"} xref: Orphanet:93284 {source="MONDO:equivalentTo"} xref: SCTID:51952004 {source="MONDO:equivalentTo"} is_a: MONDO:0016761 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia @@ -378046,12 +377884,12 @@ subset: ordo_disease {source="Orphanet:93292"} synonym: "adenoma of the pancreas" RELATED [Orphanet:93292] synonym: "pancreatic adenoma" EXACT [Orphanet:93292] xref: GARD:0004204 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D13.6 {source="ORDO:93292/ntbt", source="MONDO:relatedTo", source="Orphanet:93292"} -xref: MedDRA:10058902 {source="ORDO:93292/e", source="Orphanet:93292"} -xref: MESH:C538110 {source="MONDO:equivalentTo", source="ORDO:93292/e", source="Orphanet:93292"} +xref: ICD10CM:D13.6 {source="MONDO:relatedTo", source="Orphanet:93292/ntbt", source="Orphanet:93292"} +xref: MedDRA:10058902 {source="Orphanet:93292/e", source="Orphanet:93292"} +xref: MESH:C538110 {source="Orphanet:93292/e", source="MONDO:equivalentTo", source="Orphanet:93292"} xref: Orphanet:93292 {source="MONDO:equivalentTo"} xref: SCTID:208061000119101 {source="MONDO:equivalentTo"} -xref: UMLS:C1142432 {source="MONDO:equivalentTo", source="ORDO:93292/e", source="Orphanet:93292"} +xref: UMLS:C1142432 {source="Orphanet:93292/e", source="MONDO:equivalentTo", source="Orphanet:93292"} xref: UMLS:C4076724 {source="MONDO:equivalentTo"} is_a: MONDO:0021040 {source="Orphanet:93292"} ! pancreatic neoplasm relationship: has_modifier MONDO:0021136 {source="MONDO:0015621", source="MONDO:0015882"} ! rare @@ -378061,10 +377899,10 @@ id: MONDO:0019669 name: hypochondrogenesis subset: ordo_clinical_subtype {source="Orphanet:93297"} xref: DOID:0080044 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93297", source="ORDO:93297/inclusion", source="ORDO:93297/ntbt"} -xref: OMIM:200610 {source="MONDO:subClassOf", source="Orphanet:93297", source="MONDO:directSiblingOf", source="ORDO:93297/ntbt"} +xref: ICD10CM:Q77.0 {source="MONDO:subClassOf", source="Orphanet:93297/ntbt", source="Orphanet:93297", source="Orphanet:93297/inclusion"} +xref: OMIM:200610 {source="MONDO:subClassOf", source="Orphanet:93297/ntbt", source="Orphanet:93297", source="MONDO:directSiblingOf"} xref: Orphanet:93297 {source="MONDO:equivalentTo"} -xref: UMLS:C0542428 {source="Orphanet:93297", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93297/e"} +xref: UMLS:C0542428 {source="Orphanet:93297", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93297/e"} is_a: MONDO:0019648 {source="Orphanet:93297"} ! achondrogenesis is_a: MONDO:0022800 {source="Orphanet:93297"} ! type 2 collagenopathy relationship: disease_has_feature HP:0001789 ! Hydrops fetalis @@ -378078,7 +377916,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:93320"} synonym: "congenital longitudinal deficiency of the ulna" EXACT [Orphanet:93320] synonym: "ulnar clubhand" EXACT [Orphanet:93320] synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320] -xref: ICD10CM:Q71.5 {source="ORDO:93320/e", source="Orphanet:93320", source="ORDO:93320/specific"} +xref: ICD10CM:Q71.5 {source="Orphanet:93320", source="Orphanet:93320/e", source="Orphanet:93320/specific"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:93320 {source="MONDO:equivalentTo"} xref: SCTID:21893008 {source="MONDO:equivalentTo"} @@ -378094,7 +377932,7 @@ synonym: "radial clubhand" EXACT [Orphanet:93321] synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321] synonym: "radial ray agenesis" EXACT [Orphanet:93321] xref: GARD:0000225 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q71.4 {source="ORDO:93321/e", source="ORDO:93321/specific", source="Orphanet:93321"} +xref: ICD10CM:Q71.4 {source="Orphanet:93321", source="Orphanet:93321/specific", source="Orphanet:93321/e"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:93321 {source="MONDO:equivalentTo"} xref: SCTID:48008009 {source="MONDO:equivalentTo"} @@ -378107,7 +377945,7 @@ def: "Fibular hemimelia is a congenital longitudinal limb deficiency characteriz subset: ordo_morphological_anomaly {source="Orphanet:93323"} synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:93323] synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323] -xref: ICD10CM:Q72.6 {source="ORDO:93323/e", source="ORDO:93323/specific", source="Orphanet:93323"} +xref: ICD10CM:Q72.6 {source="Orphanet:93323", source="Orphanet:93323/specific", source="Orphanet:93323/e"} xref: Orphanet:93323 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia @@ -378119,13 +377957,13 @@ synonym: "PAPA" EXACT ABBREVIATION [MONDO:cjm] synonym: "postaxial polydactyly type A" EXACT [MONDO:ambiguous] synonym: "postaxial polydactyly type A (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0005696 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q69.0 {source="Orphanet:93334", source="ORDO:93334/attributed", source="ORDO:93334/ntbt"} -xref: OMIM:174200 {source="MONDO:superClassOf", source="Orphanet:93334", source="ORDO:93334/btnt"} -xref: OMIM:263450 {source="MONDO:superClassOf", source="Orphanet:93334", source="ORDO:93334/btnt"} -xref: OMIM:602085 {source="MONDO:superClassOf", source="Orphanet:93334", source="ORDO:93334/btnt"} -xref: OMIM:607324 {source="MONDO:superClassOf", source="Orphanet:93334", source="ORDO:93334/btnt"} -xref: OMIM:608562 {source="MONDO:superClassOf", source="Orphanet:93334", source="ORDO:93334/btnt"} -xref: OMIM:615226 {source="MONDO:superClassOf", source="Orphanet:93334", source="ORDO:93334/btnt"} +xref: ICD10CM:Q69.0 {source="Orphanet:93334", source="Orphanet:93334/attributed", source="Orphanet:93334/ntbt"} +xref: OMIM:174200 {source="MONDO:superClassOf", source="Orphanet:93334", source="Orphanet:93334/btnt"} +xref: OMIM:263450 {source="MONDO:superClassOf", source="Orphanet:93334", source="Orphanet:93334/btnt"} +xref: OMIM:602085 {source="MONDO:superClassOf", source="Orphanet:93334", source="Orphanet:93334/btnt"} +xref: OMIM:607324 {source="MONDO:superClassOf", source="Orphanet:93334", source="Orphanet:93334/btnt"} +xref: OMIM:608562 {source="MONDO:superClassOf", source="Orphanet:93334", source="Orphanet:93334/btnt"} +xref: OMIM:615226 {source="MONDO:superClassOf", source="Orphanet:93334", source="Orphanet:93334/btnt"} xref: Orphanet:93334 {source="MONDO:equivalentTo"} xref: SCTID:715704001 {source="MONDO:equivalentTo"} xref: UMLS:C3887487 {source="MONDO:equivalentTo", source="Orphanet:93334"} @@ -378138,8 +377976,8 @@ id: MONDO:0019674 name: postaxial polydactyly type B subset: ordo_morphological_anomaly {source="Orphanet:93335"} synonym: "PAPB" EXACT ABBREVIATION [MONDO:cjm] -xref: ICD10CM:Q69.0 {source="ORDO:93335/attributed", source="ORDO:93335/ntbt", source="Orphanet:93335"} -xref: OMIM:174200 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:93335/ntbt", source="Orphanet:93335"} +xref: ICD10CM:Q69.0 {source="Orphanet:93335", source="Orphanet:93335/attributed", source="Orphanet:93335/ntbt"} +xref: OMIM:174200 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:93335", source="Orphanet:93335/ntbt"} xref: Orphanet:93335 {source="MONDO:equivalentTo"} xref: SCTID:715707008 {source="MONDO:equivalentTo"} xref: UMLS:C1868120 {source="MONDO:equivalentTo", source="Orphanet:93335"} @@ -378161,15 +377999,15 @@ synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" NARROW [Orp synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" NARROW [Orphanet:93359] xref: DOID:0112197 {source="MONDO:equivalentTo"} xref: GARD:0004982 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.7 {source="ORDO:93359/attributed", source="ORDO:93359/ntbt", source="Orphanet:93359"} +xref: ICD10CM:Q77.7 {source="Orphanet:93359", source="Orphanet:93359/attributed", source="Orphanet:93359/ntbt"} xref: ICD9:719.80 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C562968 {source="MONDO:equivalentTo"} -xref: OMIM:271640 {source="GARD:0004982", source="MONDO:superClassOf", source="ORDO:93359/e", source="Orphanet:93359"} +xref: OMIM:271640 {source="GARD:0004982", source="MONDO:superClassOf", source="Orphanet:93359", source="Orphanet:93359/e"} xref: OMIMPS:271640 {source="MONDO:equivalentTo"} xref: Orphanet:93359 {source="GARD:0004982", source="MONDO:equivalentTo", source="DOID:0112197"} xref: SCTID:254100000 {source="MONDO:equivalentTo"} -xref: UMLS:C0432243 {source="GARD:0004982", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93359/e", source="Orphanet:93359"} +xref: UMLS:C0432243 {source="GARD:0004982", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93359", source="Orphanet:93359/e"} is_a: MONDO:0016761 {source="DOID:0112197", source="Orphanet:93359"} ! spondyloepiphyseal dysplasia relationship: excluded_subClassOf MONDO:0017742 {source="Orphanet:93359"} ! disorder of O-xylosylglycan synthesis relationship: excluded_subClassOf MONDO:0018292 {source="Orphanet:93359"} ! congenital disorder of glycosylation-related bone disorder @@ -378182,11 +378020,11 @@ name: brachydactyly type B def: "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." [GARD:0000985] subset: ordo_malformation_syndrome {source="Orphanet:93383"} xref: GARD:0000985 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q73.8 {source="Orphanet:93383", source="ORDO:93383/attributed", source="ORDO:93383/ntbt"} -xref: OMIM:113000 {source="Orphanet:93383", source="MONDO:superClassOf", source="ORDO:93383/e"} +xref: ICD10CM:Q73.8 {source="Orphanet:93383", source="Orphanet:93383/attributed", source="Orphanet:93383/ntbt"} +xref: OMIM:113000 {source="Orphanet:93383", source="MONDO:superClassOf", source="Orphanet:93383/e"} xref: Orphanet:93383 {source="MONDO:equivalentTo"} xref: SCTID:389168002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} -xref: UMLS:C1300267 {source="Orphanet:93383", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93383/e", source="https://orcid.org/0000-0001-5493-2602"} +xref: UMLS:C1300267 {source="Orphanet:93383", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93383/e", source="https://orcid.org/0000-0001-5493-2602"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3709 xsd:string @@ -378197,11 +378035,11 @@ def: "Brachydactyly type E (BDE) is a congenital malformation of the digits char subset: ordo_malformation_syndrome {source="Orphanet:93387"} synonym: "type E brachydactyly" RELATED [GARD:0000987] xref: GARD:0000987 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q73.8 {source="Orphanet:93387", source="ORDO:93387/attributed", source="ORDO:93387/ntbt"} -xref: OMIM:113300 {source="ORDO:93387/e", source="Orphanet:93387", source="MONDO:superClassOf"} -xref: OMIM:613382 {source="Orphanet:93387", source="MONDO:superClassOf", source="ORDO:93387/btnt"} +xref: ICD10CM:Q73.8 {source="Orphanet:93387/attributed", source="Orphanet:93387/ntbt", source="Orphanet:93387"} +xref: OMIM:113300 {source="Orphanet:93387", source="MONDO:superClassOf", source="Orphanet:93387/e"} +xref: OMIM:613382 {source="Orphanet:93387/btnt", source="Orphanet:93387", source="MONDO:superClassOf"} xref: Orphanet:93387 {source="MONDO:equivalentTo"} -xref: UMLS:C0265312 {source="ORDO:93387/e", source="Orphanet:93387", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265312 {source="Orphanet:93387", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93387/e"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly [Term] @@ -378214,7 +378052,7 @@ synonym: "absent middle phalanges of digits 2-5 with nail dysplasia" RELATED [GA synonym: "brachydactyly type A5 nail dysplasia" RELATED [GARD:0000982] synonym: "brachydactyly with absence of middle phalanges and hypoplastic nails" RELATED [GARD:0000982] xref: GARD:0000982 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:93389", source="ORDO:93389/attributed", source="ORDO:93389/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:93389", source="Orphanet:93389/attributed", source="Orphanet:93389/ntbt"} xref: MESH:C537091 {source="MONDO:equivalentTo"} xref: OMIM:112900 {source="MONDO:equivalentObsolete", source="GARD:0000982"} xref: Orphanet:93389 {source="MONDO:equivalentObsolete"} @@ -378232,7 +378070,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:93397"} synonym: "brachydactyly Smorgasbord type" RELATED [GARD:0000984] synonym: "brachydactyly, Smorgasbord type" EXACT [Orphanet:93397] xref: GARD:0000984 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q73.8 {source="Orphanet:93397", source="ORDO:93397/attributed", source="ORDO:93397/ntbt"} +xref: ICD10CM:Q73.8 {source="Orphanet:93397", source="Orphanet:93397/attributed", source="Orphanet:93397/ntbt"} xref: Orphanet:93397 {source="MONDO:equivalentTo"} xref: SCTID:720571006 {source="MONDO:equivalentTo"} xref: UMLS:CN206603 {source="MONDO:equivalentTo"} @@ -378244,7 +378082,7 @@ id: MONDO:0019680 name: genochondromatosis type 2 def: "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." [Orphanet:93398] subset: ordo_disease {source="Orphanet:93398"} -xref: OMIM:137360 {source="MONDO:subClassOf", source="Orphanet:93398", source="ORDO:93398/ntbt"} +xref: OMIM:137360 {source="MONDO:subClassOf", source="Orphanet:93398/ntbt", source="Orphanet:93398"} xref: Orphanet:93398 {source="MONDO:equivalentTo"} xref: SCTID:725904009 {source="MONDO:equivalentTo"} xref: UMLS:C4511481 {source="MONDO:equivalentTo"} @@ -378258,7 +378096,7 @@ id: MONDO:0019681 name: juvenile sialidosis type 2 subset: ordo_clinical_subtype {source="Orphanet:93399"} synonym: "dysmorphic sialidosis, juvenile form" EXACT [] -xref: ICD10CM:E77.1 {source="Orphanet:93399", source="ORDO:93399/attributed", source="ORDO:93399/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:93399/attributed", source="Orphanet:93399/ntbt", source="Orphanet:93399"} xref: Orphanet:93399 {source="MONDO:equivalentTo"} xref: SCTID:111383007 {source="MONDO:equivalentTo"} xref: UMLS:C0268229 {source="MONDO:equivalentTo"} @@ -378269,7 +378107,7 @@ is_a: MONDO:0009738 {source="Orphanet:93399", source="linkedlifedata"} ! sialido id: MONDO:0019682 name: congenital sialidosis type 2 subset: ordo_clinical_subtype {source="Orphanet:93400"} -xref: ICD10CM:E77.1 {source="Orphanet:93400", source="ORDO:93400/attributed", source="ORDO:93400/ntbt"} +xref: ICD10CM:E77.1 {source="Orphanet:93400", source="Orphanet:93400/attributed", source="Orphanet:93400/ntbt"} xref: Orphanet:93400 {source="MONDO:equivalentTo"} is_a: MONDO:0009738 {source="Orphanet:93400"} ! sialidosis type 2 @@ -378355,12 +378193,12 @@ subset: ordo_group_of_disorders {source="Orphanet:93426"} synonym: "ciliopathies with major skeletal involvement" RELATED [Orphanet:93426] synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [Orphanet:93426] synonym: "SRP" EXACT ABBREVIATION [Orphanet:93426] -xref: ICD10CM:Q77.2 {source="ORDO:93426/e", source="Orphanet:93426", source="ORDO:93426/specific"} +xref: ICD10CM:Q77.2 {source="Orphanet:93426/e", source="Orphanet:93426/specific", source="Orphanet:93426"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="i2s"} xref: OMIM:617405 {source="MONDO:superClassOf", source="Orphanet:93426"} xref: Orphanet:93426 {source="MONDO:equivalentTo"} xref: SCTID:254050009 {source="MONDO:equivalentTo"} -xref: UMLS:C0432195 {source="ORDO:93426/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93426"} +xref: UMLS:C0432195 {source="Orphanet:93426/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93426"} is_a: MONDO:0018230 {source="Orphanet:93426"} ! primary bone dysplasia [Term] @@ -378368,7 +378206,7 @@ id: MONDO:0019692 name: multiple epiphyseal dysplasia and pseudoachondroplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93429"} -xref: ICD10CM:Q78.8 {source="ORDO:93429/attributed", source="ORDO:93429/ntbt", source="Orphanet:93429"} +xref: ICD10CM:Q78.8 {source="Orphanet:93429/attributed", source="Orphanet:93429/ntbt", source="Orphanet:93429"} xref: Orphanet:93429 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93429"} ! primary bone dysplasia @@ -378377,7 +378215,7 @@ id: MONDO:0019693 name: multiple metaphyseal dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93430"} -xref: ICD10CM:Q78.5 {source="Orphanet:93430", source="ORDO:93430/attributed", source="ORDO:93430/ntbt"} +xref: ICD10CM:Q78.5 {source="Orphanet:93430", source="Orphanet:93430/attributed", source="Orphanet:93430/ntbt"} xref: Orphanet:93430 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93430"} ! primary bone dysplasia @@ -378394,7 +378232,7 @@ id: MONDO:0019695 name: acromelic dysplasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93436"} -xref: ICD10CM:Q74.8 {source="ORDO:93436/attributed", source="ORDO:93436/ntbt", source="Orphanet:93436"} +xref: ICD10CM:Q74.8 {source="Orphanet:93436", source="Orphanet:93436/attributed", source="Orphanet:93436/ntbt"} xref: Orphanet:93436 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93436"} ! primary bone dysplasia @@ -378408,11 +378246,11 @@ subset: ordo_group_of_disorders {source="Orphanet:93437"} synonym: "acromesomelic dwarfism" RELATED [GARD:0000006] xref: DOID:0080049 {source="MONDO:equivalentTo"} xref: GARD:0000006 {source="MONDO:equivalentTo"} -xref: MESH:C535658 {source="MONDO:equivalentTo", source="ORDO:93437/e", source="Orphanet:93437"} +xref: MESH:C535658 {source="Orphanet:93437/e", source="MONDO:equivalentTo", source="Orphanet:93437"} xref: OMIM:602875 {source="GARD:0000006", source="MONDO:superClassOf"} xref: OMIMPS:602875 {source="MONDO:equivalentTo"} xref: Orphanet:93437 {source="GARD:0000006", source="MONDO:equivalentTo"} -xref: UMLS:C0265278 {source="ORDO:93437/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93437"} +xref: UMLS:C0265278 {source="Orphanet:93437/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93437"} is_a: MONDO:0005516 {source="DOID:0080049", source="MESH:C535658"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:93437"} ! primary bone dysplasia relationship: disease_has_feature HP:0003027 ! Mesomelia @@ -378437,7 +378275,7 @@ synonym: "campomelic dysplasia and related disorders" RELATED [Orphanet:93439] xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:93439 {source="MONDO:equivalentTo"} xref: SCTID:254095002 {source="MONDO:equivalentTo"} -xref: UMLS:C0432238 {source="MONDO:equivalentTo", source="ORDO:93439/e", source="Orphanet:93439"} +xref: UMLS:C0432238 {source="Orphanet:93439/e", source="MONDO:equivalentTo", source="Orphanet:93439"} is_a: MONDO:0018230 {source="Orphanet:93439"} ! primary bone dysplasia [Term] @@ -378473,9 +378311,9 @@ synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [NCIT:C846 synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581] xref: DOID:2581 {source="MONDO:equivalentTo"} xref: GARD:0008542 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q77.3 {source="ORDO:93442/e", source="ORDO:93442/specific", source="Orphanet:93442", source="MONDO:equivalentTo", source="DOID:2581"} +xref: ICD10CM:Q77.3 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/specific", source="Orphanet:93442/e", source="DOID:2581"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:D002806 {source="ORDO:93442/e", source="Orphanet:93442", source="MONDO:equivalentTo", source="DOID:2581"} +xref: MESH:D002806 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581"} xref: NCIT:C84632 {source="MONDO:equivalentTo", source="DOID:2581"} xref: OMIM:215105 {source="MONDO:superClassOf", source="DOID:2581"} xref: Orphanet:93442 {source="MONDO:equivalentTo"} @@ -378484,7 +378322,7 @@ xref: SCTID:22932004 {source="DOID:2581"} xref: SCTID:278715001 {source="DOID:2581"} xref: SCTID:360507004 {source="MONDO:equivalentTo", source="DOID:2581"} xref: SCTID:42778005 {source="DOID:2581"} -xref: UMLS:C0008445 {source="ORDO:93442/e", source="Orphanet:93442", source="MONDO:equivalentTo", source="DOID:2581", source="NCIT:C84632"} +xref: UMLS:C0008445 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581", source="NCIT:C84632"} xref: UMLS:C1859132 {source="Orphanet:93442", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018230 {source="Orphanet:93442"} ! primary bone dysplasia @@ -378495,7 +378333,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93443"} xref: Orphanet:93443 {source="MONDO:equivalentTo"} xref: SCTID:389236000 {source="MONDO:equivalentTo"} -xref: UMLS:C1300205 {source="ORDO:93443/e", source="Orphanet:93443", source="MONDO:equivalentTo"} +xref: UMLS:C1300205 {source="Orphanet:93443", source="MONDO:equivalentTo", source="Orphanet:93443/e"} is_a: MONDO:0005516 {source="linkedlife"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:93443"} ! primary bone dysplasia relationship: disease_has_feature HP:0011001 {source="Orphanet:93443"} ! Increased bone mineral density @@ -378618,28 +378456,28 @@ subset: ordo_group_of_disorders {source="Orphanet:93457"} synonym: "isolated limb reduction defect" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic limb hypoplasia" EXACT [Orphanet:93457] synonym: "nonsyndromic limb reduction defect" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: ICD10CM:Q71.0 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.1 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.2 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.3 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.4 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.5 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.6 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.8 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q71.9 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.0 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.1 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.2 {source="ORDO:93457/specific", source="MONDO:superClassOf", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.3 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.4 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.5 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.6 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.7 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.8 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q72.9 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q73.0 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q73.1 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} -xref: ICD10CM:Q73.8 {source="ORDO:93457/specific", source="ORDO:93457/btnt", source="Orphanet:93457"} +xref: ICD10CM:Q71.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.1 {source="Orphanet:93457/specific", source="MONDO:superClassOf", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.2 {source="Orphanet:93457/specific", source="MONDO:superClassOf", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.3 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.4 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.5 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.6 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.8 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q71.9 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.1 {source="Orphanet:93457/specific", source="MONDO:superClassOf", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.2 {source="Orphanet:93457/specific", source="MONDO:superClassOf", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.3 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.4 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.5 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.6 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.7 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.8 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q72.9 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q73.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q73.1 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} +xref: ICD10CM:Q73.8 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"} xref: Orphanet:93457 {source="MONDO:equivalentTo"} is_a: MONDO:0015227 {source="Orphanet:93457"} ! non-syndromic limb malformation is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -378673,7 +378511,7 @@ name: overgrowth syndrome def: "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." [NCIT:C94828] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93460"} -xref: ICD10CM:Q87.3 {source="Orphanet:93460", source="ORDO:93460/specific", source="ORDO:93460/e"} +xref: ICD10CM:Q87.3 {source="Orphanet:93460", source="Orphanet:93460/e", source="Orphanet:93460/specific"} xref: NCIT:C94828 {source="MONDO:equivalentTo"} xref: Orphanet:93460 {source="MONDO:equivalentTo"} xref: UMLS:C2986703 {source="MONDO:equivalentTo", source="NCIT:C94828"} @@ -378774,7 +378612,6 @@ synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: GTR:AN0966176 {source="UMLS:CN580795"} xref: ICD10CM:N00-N08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: ICD10CM:N00-N08 {source="MONDO:equivalentTo"} xref: NCIT:C120887 {source="MONDO:equivalentTo"} xref: Orphanet:93548 {source="MONDO:equivalentTo"} xref: SCTID:197679002 {source="MONDO:equivalentTo"} @@ -378815,10 +378652,10 @@ id: MONDO:0019725 name: pediatric systemic lupus erythematosus subset: ordo_disease {source="Orphanet:93552"} synonym: "SLE, pediatric onset" EXACT [Orphanet:93552] -xref: ICD10CM:M32.0 {source="Orphanet:93552", source="ORDO:93552/ntbt"} -xref: ICD10CM:M32.1 {source="Orphanet:93552", source="ORDO:93552/ntbt"} -xref: ICD10CM:M32.8 {source="Orphanet:93552", source="ORDO:93552/ntbt"} -xref: ICD10CM:M32.9 {source="Orphanet:93552", source="ORDO:93552/ntbt"} +xref: ICD10CM:M32.0 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} +xref: ICD10CM:M32.1 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} +xref: ICD10CM:M32.8 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} +xref: ICD10CM:M32.9 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} xref: Orphanet:93552 {source="MONDO:equivalentTo"} is_a: MONDO:0007915 {source="https://orcid.org/0000-0001-5208-3432"} ! systemic lupus erythematosus intersection_of: MONDO:0007915 ! systemic lupus erythematosus @@ -378834,7 +378671,7 @@ name: type II mixed cryoglobulinemia def: "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." [Orphanet:93554] subset: ordo_etiological_subtype {source="Orphanet:93554"} synonym: "MC type II" EXACT [Orphanet:93554] -xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93554", source="ORDO:93554/ntbt"} +xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93554", source="Orphanet:93554/ntbt"} xref: Orphanet:93554 {source="MONDO:equivalentTo"} xref: UMLS:CN206633 {source="MONDO:equivalentTo"} is_a: MONDO:0007407 {source="Orphanet:93554"} ! Cryoglobulinemic vasculitis @@ -378845,7 +378682,7 @@ name: mixed cryoglobulinemia type III def: "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." [Orphanet:93555] subset: ordo_etiological_subtype {source="Orphanet:93555"} synonym: "MC type III" EXACT [Orphanet:93555] -xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="ORDO:93555/ntbt", source="Orphanet:93555"} +xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93555", source="Orphanet:93555/ntbt"} xref: Orphanet:93555 {source="MONDO:equivalentTo"} xref: UMLS:CN206634 {source="MONDO:equivalentTo"} is_a: MONDO:0007407 {source="Orphanet:93555"} ! Cryoglobulinemic vasculitis @@ -378855,7 +378692,7 @@ id: MONDO:0019728 name: heavy chain deposition disease subset: ordo_clinical_subtype {source="Orphanet:93556"} synonym: "HCDD" EXACT ABBREVIATION [Orphanet:93556] -xref: ICD10CM:D89.8 {source="ORDO:93556/ntbt", source="Orphanet:93556"} +xref: ICD10CM:D89.8 {source="Orphanet:93556", source="Orphanet:93556/ntbt"} xref: NCIT:C7339 {source="MONDO:equivalentTo"} xref: Orphanet:93556 {source="MONDO:equivalentTo"} xref: UMLS:C1333947 {source="MONDO:equivalentTo", source="NCIT:C7339"} @@ -378867,7 +378704,7 @@ id: MONDO:0019729 name: light and heavy chain deposition disease subset: ordo_clinical_subtype {source="Orphanet:93557"} synonym: "LHCDD" EXACT ABBREVIATION [Orphanet:93557] -xref: ICD10CM:D89.8 {source="ORDO:93557/ntbt", source="Orphanet:93557"} +xref: ICD10CM:D89.8 {source="Orphanet:93557", source="Orphanet:93557/ntbt"} xref: Orphanet:93557 {source="MONDO:equivalentTo"} xref: UMLS:CN206636 {source="MONDO:equivalentTo"} is_a: MONDO:0019463 {source="Orphanet:93557"} ! non-amyloid monoclonal immunoglobulin deposition disease @@ -378884,7 +378721,7 @@ synonym: "Light chain disease" EXACT [NCIT:C7727] synonym: "Light chain gammopathy" EXACT [NCIT:C7727] synonym: "Light-chain deposition disease" RELATED [GARD:0006906] xref: GARD:0006906 {source="MONDO:equivalentTo"} -xref: ICD10CM:D89.8 {source="ORDO:93558/ntbt", source="Orphanet:93558"} +xref: ICD10CM:D89.8 {source="Orphanet:93558/ntbt", source="Orphanet:93558"} xref: NCIT:C7727 {source="MONDO:equivalentTo"} xref: Orphanet:93558 {source="MONDO:equivalentTo"} xref: SCTID:373604002 {source="MONDO:equivalentTo"} @@ -378901,7 +378738,7 @@ synonym: "familial amyloid nephropathy due to apolipoprotein A-I variant" EXACT synonym: "familial renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "hereditary amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560] synonym: "hereditary renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560] -xref: ICD10CM:E85.0 {source="Orphanet:93560", source="ORDO:93560/attributed", source="ORDO:93560/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:93560", source="Orphanet:93560/attributed", source="Orphanet:93560/ntbt"} xref: Orphanet:93560 {source="MONDO:equivalentTo"} xref: UMLS:CN206638 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93560"} ! familial visceral amyloidosis @@ -378915,7 +378752,7 @@ synonym: "familial renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93 synonym: "hereditary amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561] synonym: "hereditary renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561] synonym: "lysozyme amyloidosis" EXACT [Orphanet:93561] -xref: ICD10CM:E85.0 {source="Orphanet:93561", source="ORDO:93561/attributed", source="ORDO:93561/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:93561/attributed", source="Orphanet:93561/ntbt", source="Orphanet:93561"} xref: Orphanet:93561 {source="MONDO:equivalentTo"} xref: UMLS:CN206639 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93561"} ! familial visceral amyloidosis @@ -378928,7 +378765,7 @@ synonym: "familial amyloid nephropathy due to fibrinogen A alpha-chain variant" synonym: "fibrinogen A alpha-chain amyloidosis" EXACT [Orphanet:93562] synonym: "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] synonym: "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] -xref: ICD10CM:E85.0 {source="Orphanet:93562", source="ORDO:93562/attributed", source="ORDO:93562/ntbt"} +xref: ICD10CM:E85.0 {source="Orphanet:93562", source="Orphanet:93562/attributed", source="Orphanet:93562/ntbt"} xref: Orphanet:93562 {source="MONDO:equivalentTo"} xref: UMLS:CN206640 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93562"} ! familial visceral amyloidosis @@ -378943,7 +378780,7 @@ synonym: "JPM" EXACT ABBREVIATION [NCIT:C114358] synonym: "juvenile PM" EXACT [Orphanet:93568] xref: EFO:1001988 {source="MONDO:equivalentTo"} xref: GARD:0012742 {source="MONDO:equivalentTo"} -xref: ICD10CM:M33.2 {source="MONDO:subClassOf", source="ORDO:93568/ntbt", source="Orphanet:93568"} +xref: ICD10CM:M33.2 {source="MONDO:subClassOf", source="Orphanet:93568", source="Orphanet:93568/ntbt"} xref: NCIT:C114358 {source="MONDO:equivalentTo"} xref: Orphanet:93568 {source="MONDO:equivalentTo"} xref: SCTID:738526005 {source="MONDO:equivalentTo"} @@ -378962,9 +378799,9 @@ synonym: "polymyalgia rheumatica" EXACT [DOID:853, ICD9CM:725] synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569] xref: DOID:853 {source="MONDO:equivalentTo"} xref: GARD:0004704 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:M35.3 {source="DOID:853", source="ORDO:93569/e", source="Orphanet:93569"} +xref: ICD10CM:M35.3 {source="DOID:853", source="Orphanet:93569/e", source="Orphanet:93569"} xref: ICD9:725 {source="DOID:853", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10068240 {source="ORDO:93569/e", source="Orphanet:93569"} +xref: MedDRA:10068240 {source="Orphanet:93569/e", source="Orphanet:93569"} xref: MESH:D011111 {source="DOID:853", source="MONDO:equivalentTo"} xref: NCIT:C85018 {source="DOID:853", source="MONDO:equivalentTo"} xref: Orphanet:93569 {source="MONDO:equivalentTo"} @@ -378973,7 +378810,7 @@ xref: SCTID:202834009 {source="DOID:853"} xref: SCTID:267988003 {source="DOID:853"} xref: SCTID:65323003 {source="DOID:853", source="MONDO:equivalentTo"} xref: UMLS:C0032533 {source="DOID:853", source="NCIT:C85018", source="MONDO:equivalentTo", source="Orphanet:93569"} -xref: UMLS:C1527406 {source="MONDO:equivalentTo", source="ORDO:93569/e", source="Orphanet:93569"} +xref: UMLS:C1527406 {source="Orphanet:93569/e", source="MONDO:equivalentTo", source="Orphanet:93569"} is_a: MONDO:0002254 {source="NCIT:C85018"} ! syndromic disease is_a: MONDO:0005336 {source="DOID:853"} ! myopathy is_a: MONDO:0005554 {source="MESH:D011111", source="MONDO:Redundant", source="NCIT:C85018", source="Orphanet:93569", source="indirect"} ! rheumatic disorder @@ -378990,13 +378827,13 @@ synonym: "membranoproliferative glomerulonephritis type II" RELATED [GARD:000855 synonym: "Mesangiocapillary glomerulonephritis type 2" EXACT [NCIT:C123039] synonym: "MPGN 2" RELATED [GARD:0008555] xref: GARD:0008555 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N04.6 {source="Orphanet:93571", source="ORDO:93571/specific", source="ORDO:93571/e"} -xref: MESH:D015432 {source="Orphanet:93571", source="ORDO:93571/e"} +xref: ICD10CM:N04.6 {source="Orphanet:93571", source="Orphanet:93571/e", source="Orphanet:93571/specific"} +xref: MESH:D015432 {source="Orphanet:93571", source="Orphanet:93571/e"} xref: NCIT:C123039 {source="MONDO:equivalentTo"} -xref: OMIM:609814 {source="Orphanet:93571", source="ORDO:93571/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:609814 {source="Orphanet:93571", source="Orphanet:93571/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:93571 {source="MONDO:equivalentTo"} xref: SCTID:722760002 {source="MONDO:equivalentTo"} -xref: UMLS:C0268743 {source="Orphanet:93571", source="MONDO:equivalentTo", source="NCIT:C123039", source="ORDO:93571/e"} +xref: UMLS:C0268743 {source="Orphanet:93571", source="MONDO:equivalentTo", source="Orphanet:93571/e", source="NCIT:C123039"} is_a: MONDO:0018013 {source="Orphanet:93571"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis is_a: MONDO:0018904 {source="MONDO:Redundant", source="NCIT:C123039", source="Orphanet:93571/inferred"} ! primary membranoproliferative glomerulonephritis @@ -379009,12 +378846,12 @@ subset: ordo_group_of_disorders {source="Orphanet:93573"} xref: GARD:0012465 {source="MONDO:equivalentTo"} xref: ICD10CM:M31.1 {source="MONDO:equivalentTo"} xref: ICD9:446.6 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10043645 {source="ORDO:93573/e", source="Orphanet:93573"} -xref: MESH:D057049 {source="ORDO:93573/e", source="Orphanet:93573", source="MONDO:equivalentTo"} +xref: MedDRA:10043645 {source="Orphanet:93573", source="Orphanet:93573/e"} +xref: MESH:D057049 {source="Orphanet:93573", source="MONDO:equivalentTo", source="Orphanet:93573/e"} xref: NCIT:C62605 {source="MONDO:equivalentTo"} xref: Orphanet:93573 {source="MONDO:equivalentTo"} xref: SCTID:126729006 {source="MONDO:equivalentTo"} -xref: UMLS:C2717961 {source="ORDO:93573/e", source="Orphanet:93573", source="NCIT:C62605", source="MONDO:equivalentTo"} +xref: UMLS:C2717961 {source="Orphanet:93573", source="NCIT:C62605", source="MONDO:equivalentTo", source="Orphanet:93573/e"} is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C62605"} ! blood coagulation disease is_a: MONDO:0005240 {source="Orphanet:93573"} ! kidney disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0019750"} ! rare @@ -379027,9 +378864,9 @@ synonym: "aHUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "atypical HUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "D-HUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [Orphanet:93579] -xref: ICD10CM:D58.8 {source="ORDO:93579/attributed", source="ORDO:93579/ntbt", source="Orphanet:93579"} -xref: OMIM:235400 {source="MONDO:subClassOf", source="ORDO:93579/ntbt", source="Orphanet:93579"} -xref: OMIM:609814 {source="MONDO:subClassOf", source="ORDO:93579/ntbt", source="Orphanet:93579"} +xref: ICD10CM:D58.8 {source="Orphanet:93579", source="Orphanet:93579/attributed", source="Orphanet:93579/ntbt"} +xref: OMIM:235400 {source="MONDO:subClassOf", source="Orphanet:93579", source="Orphanet:93579/ntbt"} +xref: OMIM:609814 {source="MONDO:subClassOf", source="Orphanet:93579", source="Orphanet:93579/ntbt"} xref: Orphanet:93579 {source="MONDO:equivalentTo"} xref: UMLS:CN206650 {source="MONDO:equivalentTo"} is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1 @@ -379044,8 +378881,8 @@ synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581] -xref: ICD10CM:D58.8 {source="Orphanet:93581", source="ORDO:93581/attributed", source="ORDO:93581/ntbt"} -xref: OMIM:235400 {source="MONDO:subClassOf", source="Orphanet:93581", source="ORDO:93581/ntbt"} +xref: ICD10CM:D58.8 {source="Orphanet:93581", source="Orphanet:93581/attributed", source="Orphanet:93581/ntbt"} +xref: OMIM:235400 {source="MONDO:subClassOf", source="Orphanet:93581", source="Orphanet:93581/ntbt"} xref: Orphanet:93581 {source="MONDO:equivalentTo"} xref: UMLS:CN206652 {source="MONDO:equivalentTo"} is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1 @@ -379067,13 +378904,13 @@ synonym: "Moschowitz syndrome" RELATED [GARD:0004607] synonym: "purpura, thrombotic thrombocytopenic" BROAD [GARD:0004607] synonym: "TTP" BROAD ABBREVIATION [GARD:0004607] xref: GARD:0004607 {source="MONDO:equivalentTo"} -xref: ICD10CM:M31.3 {source="MONDO:relatedTo", source="Orphanet:93585", source="ORDO:93585/ntbt"} -xref: MESH:C536901 {source="ORDO:93585/e", source="Orphanet:93585", source="MONDO:equivalentTo"} +xref: ICD10CM:M31.3 {source="Orphanet:93585/ntbt", source="MONDO:relatedTo", source="Orphanet:93585"} +xref: MESH:C536901 {source="Orphanet:93585", source="MONDO:equivalentTo", source="Orphanet:93585/e"} xref: NCIT:C131653 {source="MONDO:equivalentTo"} xref: Orphanet:93585 {source="MONDO:equivalentTo"} xref: SCTID:438476003 {source="MONDO:equivalentTo"} xref: UMLS:C2584777 {source="MONDO:equivalentTo"} -xref: UMLS:C2584778 {source="ORDO:93585/e", source="Orphanet:93585", source="MONDO:equivalentTo", source="NCIT:C131653"} +xref: UMLS:C2584778 {source="Orphanet:93585", source="MONDO:equivalentTo", source="Orphanet:93585/e", source="NCIT:C131653"} is_a: MONDO:0018896 {source="MESH:C536901", source="MONDO:Redundant", source="NCIT:C131653", source="Orphanet:93585", source="linkedlifedata"} ! thrombotic thrombocytopenic purpura intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura intersection_of: has_modifier MONDO:0021141 ! acquired @@ -379096,7 +378933,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0020030"} ! rare id: MONDO:0019742 name: late-onset nephronophthisis subset: ordo_clinical_subtype {source="Orphanet:93589"} -xref: ICD10CM:Q61.5 {source="ORDO:93589/attributed", source="ORDO:93589/ntbt", source="Orphanet:93589"} +xref: ICD10CM:Q61.5 {source="Orphanet:93589", source="Orphanet:93589/attributed", source="Orphanet:93589/ntbt"} xref: Orphanet:93589 {source="MONDO:equivalentTo"} is_a: MONDO:0019005 {source="Orphanet:93589"} ! nephronophthisis relationship: has_modifier HP:0000007 {source="Orphanet:93589"} ! Autosomal recessive inheritance @@ -379128,9 +378965,9 @@ consider: UMLS:C0151747 {source="MONDO:relatedTo", source="Orphanet:93603"} id: MONDO:0019745 name: cystinuria type A subset: ordo_etiological_subtype {source="Orphanet:93612"} -xref: ICD10CM:E72.0 {source="ORDO:93612/attributed", source="ORDO:93612/ntbt", source="Orphanet:93612"} +xref: ICD10CM:E72.0 {source="Orphanet:93612", source="Orphanet:93612/attributed", source="Orphanet:93612/ntbt"} xref: MESH:C565652 {source="MONDO:equivalentTo"} -xref: OMIM:220100 {source="MONDO:subClassOf", source="ORDO:93612/ntbt", source="Orphanet:93612"} +xref: OMIM:220100 {source="MONDO:subClassOf", source="Orphanet:93612", source="Orphanet:93612/ntbt"} xref: Orphanet:93612 {source="MONDO:equivalentTo"} xref: UMLS:C1857388 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93612"} is_a: MONDO:0009067 {source="MESH:C531664", source="Orphanet:93612"} ! cystinuria @@ -379140,8 +378977,8 @@ property_value: confidence "4.277777777777779" xsd:double id: MONDO:0019746 name: cystinuria type B subset: ordo_etiological_subtype {source="Orphanet:93613"} -xref: ICD10CM:E72.0 {source="ORDO:93613/attributed", source="ORDO:93613/ntbt", source="Orphanet:93613"} -xref: OMIM:220100 {source="MONDO:subClassOf", source="ORDO:93613/ntbt", source="Orphanet:93613"} +xref: ICD10CM:E72.0 {source="Orphanet:93613/attributed", source="Orphanet:93613/ntbt", source="Orphanet:93613"} +xref: OMIM:220100 {source="MONDO:subClassOf", source="Orphanet:93613/ntbt", source="Orphanet:93613"} xref: Orphanet:93613 {source="MONDO:equivalentTo"} xref: UMLS:C1857389 {source="MONDO:equivalentTo", source="Orphanet:93613"} is_a: MONDO:0009067 {source="Orphanet:93613"} ! cystinuria @@ -379209,10 +379046,10 @@ comment: Editor note: todo - investigate diseases that have autoinflammatory and subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93665"} xref: ICD10CM:M04-M04 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} -xref: MedDRA:10072220 {source="ORDO:93665/e", source="Orphanet:93665"} +xref: MedDRA:10072220 {source="Orphanet:93665", source="Orphanet:93665/e"} xref: NCIT:C119050 {source="MONDO:equivalentTo"} xref: Orphanet:93665 {source="MONDO:equivalentTo"} -xref: UMLS:C3267073 {source="ORDO:93665/e", source="MONDO:equivalentTo", source="Orphanet:93665"} +xref: UMLS:C3267073 {source="MONDO:equivalentTo", source="Orphanet:93665", source="Orphanet:93665/e"} xref: UMLS:C3890737 {source="MONDO:equivalentTo", source="NCIT:C119050"} is_a: MONDO:0002254 {source="NCIT:C119050"} ! syndromic disease is_a: MONDO:0005554 {source="Orphanet:93665"} ! rheumatic disorder @@ -379226,7 +379063,7 @@ id: MONDO:0019752 name: pediatric Castleman disease def: "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." [Orphanet:93682] subset: ordo_clinical_subtype {source="Orphanet:93682"} -xref: ICD10CM:D36.0 {source="Orphanet:93682", source="ORDO:93682/ntbt"} +xref: ICD10CM:D36.0 {source="Orphanet:93682/ntbt", source="Orphanet:93682"} xref: Orphanet:93682 {source="MONDO:equivalentTo"} xref: UMLS:CN206684 {source="MONDO:equivalentTo"} is_a: MONDO:0015564 {source="Orphanet:93682"} ! Castleman disease @@ -379244,7 +379081,7 @@ synonym: "Unicentric angiofollicular ganglionic hyperplasia" RELATED [GARD:00060 synonym: "Unicentric angiofollicular lymph hyperplasia" RELATED [GARD:0006005] synonym: "Unicentric Castleman disease" RELATED [GARD:0006005] xref: GARD:0006005 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D36.0 {source="Orphanet:93685", source="ORDO:93685/ntbt"} +xref: ICD10CM:D36.0 {source="Orphanet:93685/ntbt", source="Orphanet:93685"} xref: NCIT:C115200 {source="MONDO:equivalentTo"} xref: Orphanet:93685 {source="MONDO:equivalentTo"} xref: UMLS:C3898582 {source="NCIT:C115200", source="MONDO:equivalentTo"} @@ -379267,12 +379104,12 @@ synonym: "PMCD" EXACT ABBREVIATION [DOID:0111152] xref: DOID:0111152 {source="MONDO:equivalentTo"} xref: GARD:0009644 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:9644 {source="DOID:0111152"} -xref: ICD10CM:D36.0 {source="Orphanet:93686", source="ORDO:93686/ntbt"} -xref: MESH:C537372 {source="ORDO:93686/e", source="Orphanet:93686"} +xref: ICD10CM:D36.0 {source="Orphanet:93686", source="Orphanet:93686/ntbt"} +xref: MESH:C537372 {source="Orphanet:93686", source="Orphanet:93686/e"} xref: NCIT:C27855 {source="MONDO:equivalentTo", source="DOID:0111152"} -xref: OMIM:148000 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:93686", source="ORDO:93686/btnt"} +xref: OMIM:148000 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:93686", source="Orphanet:93686/btnt"} xref: Orphanet:93686 {source="MONDO:equivalentTo", source="DOID:0111152"} -xref: UMLS:C1334815 {source="ORDO:93686/e", source="MONDO:equivalentTo", source="Orphanet:93686", source="NCIT:C27855", source="DOID:0111152"} +xref: UMLS:C1334815 {source="MONDO:equivalentTo", source="Orphanet:93686", source="NCIT:C27855", source="DOID:0111152", source="Orphanet:93686/e"} is_a: MONDO:0015157 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:93686/inferred"} ! human herpesvirus 8-related tumor is_a: MONDO:0015564 {source="DOID:0111152", source="NCIT:C27855", source="Orphanet:93686"} ! Castleman disease relationship: seeAlso https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease {source="DOID:0111152"} @@ -379305,13 +379142,13 @@ id: MONDO:0019756 name: lobar holoprosencephaly def: "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." [Orphanet:93924] subset: ordo_clinical_subtype {source="Orphanet:93924"} -xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="ORDO:93924/attributed", source="ORDO:93924/ntbt", source="Orphanet:93924"} +xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:93924/attributed", source="Orphanet:93924/ntbt", source="Orphanet:93924"} xref: OMIM:157170 {source="MONDO:superClassOf", source="Orphanet:93924", source="MONDO:directSiblingOf"} xref: OMIM:609637 {source="MONDO:superClassOf", source="Orphanet:93924"} xref: OMIM:610829 {source="MONDO:superClassOf", source="Orphanet:93924"} xref: Orphanet:93924 {source="MONDO:equivalentTo"} xref: SCTID:253136007 {source="MONDO:equivalentTo"} -xref: UMLS:C0431362 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:93924/e", source="Orphanet:93924"} +xref: UMLS:C0431362 {source="Orphanet:93924/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93924"} is_a: MONDO:0016296 {source="Orphanet:93924", source="linkedlifedata"} ! holoprosencephaly [Term] @@ -379319,13 +379156,13 @@ id: MONDO:0019757 name: alobar holoprosencephaly def: "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." [Orphanet:93925] subset: ordo_clinical_subtype {source="Orphanet:93925"} -xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="ORDO:93925/attributed", source="ORDO:93925/ntbt", source="Orphanet:93925"} +xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:93925/attributed", source="Orphanet:93925/ntbt", source="Orphanet:93925"} xref: OMIM:157170 {source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:93925"} xref: OMIM:609637 {source="MONDO:superClassOf", source="Orphanet:93925"} xref: OMIM:610829 {source="MONDO:superClassOf", source="Orphanet:93925"} xref: Orphanet:93925 {source="MONDO:equivalentTo"} xref: SCTID:253137003 {source="MONDO:equivalentTo"} -xref: UMLS:C0431363 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:93925/e", source="Orphanet:93925"} +xref: UMLS:C0431363 {source="Orphanet:93925/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93925"} is_a: MONDO:0016296 {source="Orphanet:93925", source="linkedlifedata"} ! holoprosencephaly [Term] @@ -379340,7 +379177,7 @@ synonym: "MIH type HPE" EXACT [Orphanet:93926] synonym: "MIHF" EXACT ABBREVIATION [Orphanet:93926] synonym: "MIHV" EXACT ABBREVIATION [Orphanet:93926] synonym: "Syntelencephaly" EXACT [Orphanet:93926] -xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="ORDO:93926/attributed", source="ORDO:93926/ntbt", source="Orphanet:93926"} +xref: ICD10CM:Q04.2 {source="MONDO:subClassOf", source="Orphanet:93926/attributed", source="Orphanet:93926/ntbt", source="Orphanet:93926"} xref: OMIM:157170 {source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:93926"} xref: OMIM:609637 {source="MONDO:superClassOf", source="Orphanet:93926"} xref: OMIM:610829 {source="MONDO:superClassOf", source="Orphanet:93926"} @@ -379356,15 +379193,15 @@ subset: ordo_clinical_subtype {source="Orphanet:93928"} synonym: "epispadias" EXACT [MONDO:ambiguous] synonym: "epispadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000039 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q64.0 {source="Orphanet:93928", source="ORDO:93928/specific", source="ORDO:93928/e"} +xref: ICD10CM:Q64.0 {source="Orphanet:93928", source="Orphanet:93928/e", source="Orphanet:93928/specific"} xref: ICD9:752.62 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10015088 {source="Orphanet:93928", source="ORDO:93928/e"} -xref: MESH:D004842 {source="Orphanet:93928", source="MONDO:equivalentTo", source="ORDO:93928/e"} +xref: MedDRA:10015088 {source="Orphanet:93928", source="Orphanet:93928/e"} +xref: MESH:D004842 {source="Orphanet:93928", source="MONDO:equivalentTo", source="Orphanet:93928/e"} xref: NCIT:C98923 {source="MONDO:equivalentTo"} xref: Orphanet:93928 {source="MONDO:equivalentTo"} xref: SCTID:406476007 {source="MONDO:equivalentTo"} -xref: UMLS:C0014588 {source="NCIT:C98923", source="Orphanet:93928", source="MONDO:equivalentTo", source="ORDO:93928/e"} -xref: UMLS:C0563449 {source="Orphanet:93928", source="MONDO:notFoundInDiseaseSubset", source="ORDO:93928/e"} +xref: UMLS:C0014588 {source="NCIT:C98923", source="Orphanet:93928", source="MONDO:equivalentTo", source="Orphanet:93928/e"} +xref: UMLS:C0563449 {source="Orphanet:93928", source="Orphanet:93928/e", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN227686 {source="MONDO:equivalentTo"} is_a: MONDO:0017919 {source="Orphanet:93928"} ! exstrophy-epispadias complex property_value: IAO:0000589 "epispadias (disease)" xsd:string @@ -379375,8 +379212,8 @@ id: MONDO:0019760 name: terminal transverse defects of arm subset: ordo_morphological_anomaly {source="Orphanet:93937"} synonym: "congenital limb amputation" EXACT [Orphanet:93937] -xref: ICD10CM:Q79.8 {source="ORDO:93937/attributed", source="ORDO:93937/ntbt", source="Orphanet:93937"} -xref: OMIM:217100 {source="MONDO:subClassOf", source="ORDO:93937/ntbt", source="Orphanet:93937"} +xref: ICD10CM:Q79.8 {source="Orphanet:93937/attributed", source="Orphanet:93937/ntbt", source="Orphanet:93937"} +xref: OMIM:217100 {source="MONDO:subClassOf", source="Orphanet:93937/ntbt", source="Orphanet:93937"} xref: Orphanet:93937 {source="MONDO:equivalentTo"} xref: UMLS:C1857578 {source="MONDO:equivalentTo", source="Orphanet:93937"} is_a: MONDO:0009011 ! constriction rings syndrome @@ -379390,7 +379227,7 @@ subset: ordo_clinical_subtype {source="Orphanet:93938"} synonym: "laryngo-tracheo-esophageal cleft type 1" EXACT [Orphanet:93938] synonym: "LTEC I" EXACT [Orphanet:93938] synonym: "LTEC1" EXACT ABBREVIATION [Orphanet:93938] -xref: ICD10CM:Q32.1 {source="Orphanet:93938", source="ORDO:93938/ntbt"} +xref: ICD10CM:Q32.1 {source="Orphanet:93938", source="Orphanet:93938/ntbt"} xref: Orphanet:93938 {source="MONDO:equivalentTo"} xref: UMLS:CN206696 {source="MONDO:equivalentTo"} is_a: MONDO:0016060 {source="Orphanet:93938"} ! laryngotracheoesophageal cleft @@ -379403,7 +379240,7 @@ subset: ordo_clinical_subtype {source="Orphanet:93939"} synonym: "laryngo-tracheo-esophageal cleft type 2" EXACT [Orphanet:93939] synonym: "LTEC II" EXACT [Orphanet:93939] synonym: "LTEC2" EXACT ABBREVIATION [Orphanet:93939] -xref: ICD10CM:Q32.1 {source="Orphanet:93939", source="ORDO:93939/ntbt"} +xref: ICD10CM:Q32.1 {source="Orphanet:93939", source="Orphanet:93939/ntbt"} xref: Orphanet:93939 {source="MONDO:equivalentTo"} xref: UMLS:CN206697 {source="MONDO:equivalentTo"} is_a: MONDO:0016060 {source="Orphanet:93939"} ! laryngotracheoesophageal cleft @@ -379416,8 +379253,8 @@ subset: ordo_clinical_subtype {source="Orphanet:93940"} synonym: "laryngo-tracheo-esophageal cleft type 3" EXACT [Orphanet:93940] synonym: "LTEC III" EXACT [Orphanet:93940] synonym: "LTEC3" EXACT ABBREVIATION [Orphanet:93940] -xref: ICD10CM:Q32.1 {source="ORDO:93940/ntbt", source="Orphanet:93940"} -xref: OMIM:215800 {source="ORDO:93940/btnt", source="Orphanet:93940", source="MONDO:todo", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q32.1 {source="Orphanet:93940", source="Orphanet:93940/ntbt"} +xref: OMIM:215800 {source="Orphanet:93940", source="MONDO:todo", source="MONDO:directSiblingOf", source="Orphanet:93940/btnt"} xref: Orphanet:93940 {source="MONDO:equivalentTo"} xref: UMLS:CN206698 {source="MONDO:equivalentTo"} is_a: MONDO:0016060 {source="Orphanet:93940"} ! laryngotracheoesophageal cleft @@ -379430,7 +379267,7 @@ subset: ordo_clinical_subtype {source="Orphanet:93941"} synonym: "laryngo-tracheo-esophageal cleft type 4" EXACT [Orphanet:93941] synonym: "LTEC IV" EXACT [Orphanet:93941] synonym: "LTEC4" EXACT ABBREVIATION [Orphanet:93941] -xref: ICD10CM:Q32.1 {source="ORDO:93941/ntbt", source="Orphanet:93941"} +xref: ICD10CM:Q32.1 {source="Orphanet:93941", source="Orphanet:93941/ntbt"} xref: Orphanet:93941 {source="MONDO:equivalentTo"} xref: UMLS:CN206699 {source="MONDO:equivalentTo"} is_a: MONDO:0016060 {source="Orphanet:93941"} ! laryngotracheoesophageal cleft @@ -379439,7 +379276,7 @@ is_a: MONDO:0016060 {source="Orphanet:93941"} ! laryngotracheoesophageal cleft id: MONDO:0019765 name: Celosomia subset: ordo_morphological_anomaly {source="Orphanet:93942"} -xref: ICD10CM:Q76.7 {source="ORDO:93942/ntbt", source="Orphanet:93942"} +xref: ICD10CM:Q76.7 {source="Orphanet:93942", source="Orphanet:93942/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:93942 {source="MONDO:equivalentTo"} xref: SCTID:44518003 {source="MONDO:equivalentTo"} @@ -379494,9 +379331,9 @@ name: oromandibular dystonia def: "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." [Orphanet:93958] subset: ordo_disease {source="Orphanet:93958"} xref: DOID:0050843 {source="MONDO:equivalentTo"} -xref: ICD10CM:G24.4 {source="ORDO:93958/e", source="ORDO:93958/specific", source="Orphanet:93958"} +xref: ICD10CM:G24.4 {source="Orphanet:93958/specific", source="Orphanet:93958/e", source="Orphanet:93958"} xref: Orphanet:93958 {source="MONDO:equivalentTo"} -xref: UMLS:C0393607 {source="MONDO:equivalentTo", source="ORDO:93958/e", source="Orphanet:93958"} +xref: UMLS:C0393607 {source="Orphanet:93958/e", source="MONDO:equivalentTo", source="Orphanet:93958"} is_a: MONDO:0000477 {source="DOID:0050843", source="Wikipedia:Dystonia"} ! focal dystonia is_a: MONDO:0015990 {source="Orphanet:93958"} ! focal, segmental or multifocal dystonia @@ -379516,7 +379353,7 @@ synonym: "oral facial dystonia" RELATED [GARD:0007008] synonym: "segmental cranial dystonia" RELATED [GARD:0007008] xref: DOID:3982 {source="MONDO:equivalentTo"} xref: GARD:0007008 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G24.8 {source="ORDO:93964/attributed", source="ORDO:93964/ntbt", source="Orphanet:93964"} +xref: ICD10CM:G24.8 {source="Orphanet:93964", source="Orphanet:93964/attributed", source="Orphanet:93964/ntbt"} xref: MESH:D008538 {source="DOID:3982", source="MONDO:equivalentTo"} xref: Orphanet:93964 {source="MONDO:equivalentTo"} xref: SCTID:230325003 {source="MONDO:equivalentTo"} @@ -379535,16 +379372,16 @@ xref: EFO:1001369 {source="MONDO:equivalentTo"} xref: GARD:0003475 {source="MONDO:equivalentTo"} xref: HP:0002475 {source="MONDO:otherHierarchy", source="DOID:0060326"} xref: ICD10CM:Q05 {source="DOID:0060326"} -xref: ICD10CM:Q05.0 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.1 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.2 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.3 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.4 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.5 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.6 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.7 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.8 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} -xref: ICD10CM:Q05.9 {source="ORDO:93969/attributed", source="ORDO:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.0 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.1 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.2 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.3 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.4 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.5 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.6 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.7 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.8 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: ICD10CM:Q05.9 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} xref: MESH:D008591 {source="MONDO:equivalentTo", source="DOID:0060326"} xref: NCIT:C101201 {source="MONDO:subClassOf", source="DOID:0060326"} xref: NCIT:C98874 {source="DOID:0060326"} @@ -379574,8 +379411,8 @@ def: "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome bel comment: Reason: out of scope. Term to consider: alpha thalassemia-X-linked intellectual disability syndrome' subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:93970"} -xref: ICD10CM:Q87.0 {source="Orphanet:93970", source="ORDO:93970/attributed", source="ORDO:93970/ntbt"} -xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93970", source="ORDO:93970/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:93970/attributed", source="Orphanet:93970/ntbt", source="Orphanet:93970"} +xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93970/ntbt", source="Orphanet:93970"} xref: Orphanet:93970 {source="MONDO:equivalentTo"} xref: UMLS:CN206715 {source="MONDO:equivalentTo"} is_a: MONDO:0010663 {source="Orphanet:93970"} ! X-linked intellectual disability-hypotonic face syndrome @@ -379599,7 +379436,7 @@ synonym: "mental retardation-hypotonic facies syndrome X-linked, 1" RELATED DEPR synonym: "SFM1" RELATED ABBREVIATION [GARD:0001357] synonym: "Smith Fineman Myers syndrome 1" RELATED [GARD:0001357] xref: GARD:0001357 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93971", source="ORDO:93971/ntbt"} +xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93971/ntbt", source="Orphanet:93971"} xref: Orphanet:93971 {source="MONDO:equivalentTo"} xref: SCTID:717763008 {source="MONDO:equivalentTo"} xref: UMLS:CN206716 {source="MONDO:equivalentTo"} @@ -379612,11 +379449,11 @@ name: Juberg-Marsidi syndrome def: "Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93972] subset: ordo_malformation_syndrome {source="Orphanet:93972"} synonym: "juberg Marsidi syndrome" EXACT [] -xref: MESH:C537457 {source="ORDO:93972/e", source="Orphanet:93972"} -xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93972", source="ORDO:93972/ntbt"} +xref: MESH:C537457 {source="Orphanet:93972", source="Orphanet:93972/e"} +xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93972", source="Orphanet:93972/ntbt"} xref: Orphanet:93972 {source="MONDO:equivalentTo"} xref: SCTID:721875000 {source="MONDO:equivalentTo"} -xref: UMLS:C0796003 {source="ORDO:93972/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93972"} +xref: UMLS:C0796003 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93972", source="Orphanet:93972/e"} is_a: MONDO:0000425 {source="indirect", source="linkedlife"} ! X-linked disease is_a: MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability is_a: MONDO:0010663 {source="Orphanet:93972"} ! X-linked intellectual disability-hypotonic face syndrome @@ -379629,7 +379466,7 @@ id: MONDO:0019777 name: Carpenter-Waziri syndrome def: "Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93973] subset: ordo_malformation_syndrome {source="Orphanet:93973"} -xref: OMIM:309580 {source="MONDO:subClassOf", source="ORDO:93973/ntbt", source="Orphanet:93973"} +xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93973", source="Orphanet:93973/ntbt"} xref: Orphanet:93973 {source="MONDO:equivalentTo"} xref: UMLS:CN206718 {source="MONDO:equivalentTo"} is_a: MONDO:0010663 {source="Orphanet:93973"} ! X-linked intellectual disability-hypotonic face syndrome @@ -379645,7 +379482,7 @@ synonym: "mental retardation Smith Fineman Myers type" RELATED DEPRECATED [GARD: synonym: "Smith Fineman Myers syndrome" RELATED [GARD:0003521] xref: GARD:0003521 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C537445 {source="MONDO:equivalentTo"} -xref: OMIM:309580 {source="MONDO:subClassOf", source="ORDO:93974/ntbt", source="Orphanet:93974"} +xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93974", source="Orphanet:93974/ntbt"} xref: Orphanet:93974 {source="MONDO:equivalentTo"} xref: SCTID:719212004 {source="MONDO:equivalentTo"} xref: UMLS:C0796159 {source="MONDO:equivalentTo", source="Orphanet:93974"} @@ -379660,7 +379497,7 @@ subset: gard_rare {source="GARD:0004672"} subset: ordo_malformation_syndrome {source="Orphanet:93975"} synonym: "Renier Gabreels Jasper syndrome" RELATED [GARD:0004672] xref: GARD:0004672 {source="MONDO:equivalentTo"} -xref: OMIM:309580 {source="MONDO:subClassOf", source="ORDO:93975/ntbt", source="Orphanet:93975"} +xref: OMIM:309580 {source="MONDO:subClassOf", source="Orphanet:93975", source="Orphanet:93975/ntbt"} xref: Orphanet:93975 {source="MONDO:equivalentTo"} xref: SCTID:723501008 {source="MONDO:equivalentTo"} xref: UMLS:CN206720 {source="MONDO:equivalentTo"} @@ -379673,12 +379510,12 @@ id: MONDO:0019780 name: anotia def: "Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." [Orphanet:93976] subset: ordo_morphological_anomaly {source="Orphanet:93976"} -xref: ICD10CM:Q16.0 {source="ORDO:93976/nd", source="Orphanet:93976", source="ORDO:93976/specific"} -xref: ICD10CM:Q16.1 {source="ORDO:93976/nd", source="Orphanet:93976", source="ORDO:93976/specific"} +xref: ICD10CM:Q16.0 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"} +xref: ICD10CM:Q16.1 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"} xref: ICD9:744.01 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10002654 {source="ORDO:93976/e", source="Orphanet:93976"} -xref: MESH:C537772 {source="ORDO:93976/e", source="Orphanet:93976"} -xref: OMIM:600674 {source="MONDO:subClassOf", source="ORDO:93976/ntbt", source="Orphanet:93976", source="MONDO:directSiblingOf"} +xref: MedDRA:10002654 {source="Orphanet:93976/e", source="Orphanet:93976"} +xref: MESH:C537772 {source="Orphanet:93976/e", source="Orphanet:93976"} +xref: OMIM:600674 {source="MONDO:subClassOf", source="Orphanet:93976/ntbt", source="Orphanet:93976", source="MONDO:directSiblingOf"} xref: Orphanet:93976 {source="MONDO:equivalentTo"} xref: SCTID:57436000 {source="MONDO:equivalentTo"} xref: UMLS:C0702139 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93976"} @@ -379698,7 +379535,7 @@ xref: MESH:D001254 {source="MONDO:equivalentTo"} xref: NCIT:C60781 {source="MONDO:equivalentTo"} xref: ONCOTREE:ASTR {source="MONDO:equivalentTo"} xref: SCTID:147101000119108 {source="MONDO:equivalentTo"} -xref: UMLS:C0004114 {source="DOID:3069", source="MONDO:equivalentTo", source="Orphanet:94", source="NCIT:C60781", source="ORDO:94/e"} +xref: UMLS:C0004114 {source="DOID:3069", source="Orphanet:94/e", source="MONDO:equivalentTo", source="Orphanet:94", source="NCIT:C60781"} is_a: MONDO:0021636 {source="NCIT:C60781"} ! astrocytic tumor relationship: disease_has_location CL:0000127 ! astrocyte @@ -379707,9 +379544,9 @@ id: MONDO:0019782 name: humero-ulnar synostosis subset: ordo_morphological_anomaly {source="Orphanet:94056"} synonym: "humero-ulnar fusion" EXACT [Orphanet:94056] -xref: ICD10CM:Q74.0 {source="Orphanet:94056", source="ORDO:94056/attributed", source="ORDO:94056/ntbt"} +xref: ICD10CM:Q74.0 {source="Orphanet:94056/attributed", source="Orphanet:94056/ntbt", source="Orphanet:94056"} xref: Orphanet:94056 {source="MONDO:equivalentTo"} -xref: UMLS:C0431799 {source="Orphanet:94056", source="MONDO:notFoundInDiseaseSubset", source="ORDO:94056/e"} +xref: UMLS:C0431799 {source="Orphanet:94056", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94056/e"} is_a: MONDO:0017429 {source="Orphanet:94056"} ! joint formation defects [Term] @@ -379720,13 +379557,13 @@ subset: ordo_clinical_situation {source="Orphanet:94058"} synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [DOID:1687] xref: DOID:1687 {source="MONDO:equivalentTo", source="EFO:1001060"} xref: EFO:1001060 {source="MONDO:equivalentTo"} -xref: MedDRA:10062891 {source="ORDO:94058/e", source="Orphanet:94058", source="EFO:1001060"} -xref: MESH:D015355 {source="ORDO:94058/e", source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="EFO:1001060"} +xref: MedDRA:10062891 {source="Orphanet:94058", source="Orphanet:94058/e", source="EFO:1001060"} +xref: MESH:D015355 {source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="Orphanet:94058/e", source="EFO:1001060"} xref: Orphanet:94058 {source="MONDO:equivalentTo"} xref: SCTID:193564003 {source="DOID:1687"} xref: SCTID:232086000 {source="DOID:1687", source="MONDO:equivalentTo", source="EFO:1001060"} xref: SCTID:314785001 {source="DOID:1687"} -xref: UMLS:C0017609 {source="ORDO:94058/e", source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo"} +xref: UMLS:C0017609 {source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="Orphanet:94058/e"} is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma relationship: has_modifier MONDO:0021136 {source="MONDO:0015120"} ! rare @@ -379741,7 +379578,7 @@ synonym: "deletion 12q14" EXACT [Orphanet:94063] synonym: "monosomy 12q14" EXACT [Orphanet:94063] synonym: "osteopoikilosis-short stature-intellectual disability syndrome" EXACT [Orphanet:94063] xref: GARD:0013390 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:94063/attributed", source="ORDO:94063/ntbt", source="Orphanet:94063"} +xref: ICD10CM:Q93.5 {source="Orphanet:94063/attributed", source="Orphanet:94063/ntbt", source="Orphanet:94063"} xref: Orphanet:94063 {source="MONDO:equivalentTo"} xref: SCTID:719046005 {source="MONDO:equivalentTo"} xref: UMLS:C4305140 {source="MONDO:equivalentTo"} @@ -379766,7 +379603,7 @@ id: MONDO:0019786 name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia def: "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14." [Orphanet:94066] subset: ordo_malformation_syndrome {source="Orphanet:94066"} -xref: ICD10CM:Q87.8 {source="Orphanet:94066", source="ORDO:94066/attributed", source="ORDO:94066/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:94066", source="Orphanet:94066/attributed", source="Orphanet:94066/ntbt"} xref: Orphanet:94066 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94066", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:94066"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -379812,10 +379649,10 @@ def: "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculi subset: ordo_disease {source="Orphanet:94087"} synonym: "CHP" EXACT ABBREVIATION [Orphanet:94087] synonym: "Winkelmann cytophagic panniculitis" EXACT [Orphanet:94087] -xref: ICD10CM:M35.8 {source="Orphanet:94087", source="ORDO:94087/ntbt"} +xref: ICD10CM:M35.8 {source="Orphanet:94087", source="Orphanet:94087/ntbt"} xref: Orphanet:94087 {source="MONDO:equivalentTo"} xref: SCTID:238883003 {source="MONDO:equivalentTo"} -xref: UMLS:C0406594 {source="Orphanet:94087", source="MONDO:equivalentTo", source="ORDO:94087/e"} +xref: UMLS:C0406594 {source="Orphanet:94087", source="MONDO:equivalentTo", source="Orphanet:94087/e"} is_a: MONDO:0006591 {source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! panniculitis is_a: MONDO:0019296 {source="Orphanet:94087"} ! subcutaneous tissue disorder @@ -379829,16 +379666,16 @@ synonym: "NMS" EXACT ABBREVIATION [NCIT:C94829] xref: DOID:14464 {source="MONDO:equivalentTo"} xref: EFO:1001379 {source="MONDO:equivalentTo"} xref: GARD:0007195 {source="MONDO:equivalentTo"} -xref: ICD10CM:G21.0 {source="MONDO:equivalentTo", source="ORDO:94093/e", source="Orphanet:94093", source="DOID:14464"} +xref: ICD10CM:G21.0 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} xref: ICD9:333.92 {source="MONDO:equivalentTo", source="i2s", source="DOID:14464"} -xref: MedDRA:10029282 {source="ORDO:94093/e", source="Orphanet:94093"} -xref: MESH:D009459 {source="MONDO:equivalentTo", source="ORDO:94093/e", source="Orphanet:94093", source="DOID:14464"} +xref: MedDRA:10029282 {source="Orphanet:94093/e", source="Orphanet:94093"} +xref: MESH:D009459 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} xref: NCIT:C94829 {source="MONDO:equivalentTo", source="DOID:14464"} xref: Orphanet:94093 {source="MONDO:equivalentTo", source="DOID:14464"} xref: SCTID:15244003 {source="MONDO:equivalentTo", source="DOID:14464"} xref: SCTID:192826000 {source="DOID:14464"} xref: SCTID:68977009 {source="DOID:14464"} -xref: UMLS:C0027849 {source="MONDO:equivalentTo", source="ORDO:94093/e", source="Orphanet:94093", source="DOID:14464", source="NCIT:C94829"} +xref: UMLS:C0027849 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464", source="NCIT:C94829"} is_a: MONDO:0002254 {source="NCIT:C94829"} ! syndromic disease is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome xsd:anyURI {source="GARD:0007195"} @@ -379849,7 +379686,7 @@ name: recessive mitochondrial ataxia syndrome subset: ordo_disease {source="Orphanet:94125"} synonym: "MIRAS" EXACT ABBREVIATION [Orphanet:94125] xref: EFO:0008816 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="Orphanet:94125", source="ORDO:94125/attributed", source="ORDO:94125/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:94125/attributed", source="Orphanet:94125/ntbt", source="Orphanet:94125"} xref: Orphanet:94125 {source="MONDO:equivalentTo"} xref: UMLS:CN206743 {source="MONDO:equivalentTo"} is_a: MONDO:0016798 {source="Orphanet:94125"} ! ataxia neuropathy spectrum @@ -379865,7 +379702,7 @@ synonym: "ADCA1" EXACT ABBREVIATION [Orphanet:94145] synonym: "ADCAI" EXACT ABBREVIATION [Orphanet:94145] synonym: "autosomal dominant cerebellar ataxia type 1" EXACT [Orphanet:94145] synonym: "cerebellar plus syndrome" EXACT [Orphanet:94145] -xref: ICD10CM:G11.8 {source="Orphanet:94145", source="ORDO:94145/attributed", source="ORDO:94145/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:94145", source="Orphanet:94145/attributed", source="Orphanet:94145/ntbt"} xref: Orphanet:94145 {source="MONDO:equivalentTo"} xref: UMLS:CN206744 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="Orphanet:94145"} ! autosomal dominant cerebellar ataxia @@ -379881,7 +379718,7 @@ synonym: "ADCAIII" EXACT ABBREVIATION [Orphanet:94148] synonym: "autosomal dominant cerebellar ataxia type 3" EXACT [Orphanet:94148] synonym: "autosomal dominant cerebellar ataxia type III" EXACT [Orphanet:94148] synonym: "Pure cerebellar syndrome-mild pyramidal signs syndrome" EXACT [Orphanet:94148] -xref: ICD10CM:G11.8 {source="Orphanet:94148", source="ORDO:94148/attributed", source="ORDO:94148/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:94148", source="Orphanet:94148/attributed", source="Orphanet:94148/ntbt"} xref: Orphanet:94148 {source="MONDO:equivalentTo"} xref: UMLS:CN206746 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="Orphanet:94148"} ! autosomal dominant cerebellar ataxia @@ -379895,7 +379732,7 @@ synonym: "ADCA4" EXACT ABBREVIATION [Orphanet:94149] synonym: "ADCAIV" EXACT ABBREVIATION [Orphanet:94149] synonym: "autosomal dominant cerebellar ataxia type 4" EXACT [Orphanet:94149] synonym: "autosomal dominant cerebellar ataxia type IV" EXACT [Orphanet:94149] -xref: ICD10CM:G11.8 {source="ORDO:94149/attributed", source="ORDO:94149/ntbt", source="Orphanet:94149"} +xref: ICD10CM:G11.8 {source="Orphanet:94149", source="Orphanet:94149/attributed", source="Orphanet:94149/ntbt"} xref: Orphanet:94149 {source="MONDO:equivalentTo"} xref: UMLS:CN229225 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="Orphanet:94149"} ! autosomal dominant cerebellar ataxia @@ -379909,14 +379746,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:945"} synonym: "Acrania" EXACT [Orphanet:945] synonym: "primary acalvaria" RELATED [GARD:0000361] xref: GARD:0000361 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q00.0 {source="Orphanet:945", source="ORDO:945/ntbt"} -xref: MESH:C535570 {source="ORDO:945/e", source="MONDO:equivalentTo", source="Orphanet:945"} -xref: MESH:D009436 {source="ORDO:945/e", source="MONDO:relatedTo", source="Orphanet:945"} +xref: ICD10CM:Q00.0 {source="Orphanet:945", source="Orphanet:945/ntbt"} +xref: MESH:C535570 {source="MONDO:equivalentTo", source="Orphanet:945", source="Orphanet:945/e"} +xref: MESH:D009436 {source="MONDO:relatedTo", source="Orphanet:945", source="Orphanet:945/e"} xref: OMIM:206500 {source="MONDO:relatedTo", source="GARD:0000361"} xref: Orphanet:945 {source="MONDO:equivalentTo"} xref: SCTID:203923004 {source="MONDO:equivalentTo"} -xref: UMLS:C0702169 {source="ORDO:945/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:945"} -xref: UMLS:C2930936 {source="ORDO:945/e", source="MONDO:equivalentTo", source="Orphanet:945"} +xref: UMLS:C0702169 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:945", source="Orphanet:945/e"} +xref: UMLS:C2930936 {source="MONDO:equivalentTo", source="Orphanet:945", source="Orphanet:945/e"} is_a: MONDO:0020018 {source="Orphanet:945"} ! cranial malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/361/acalvaria xsd:anyURI {source="GARD:0000361"} @@ -379934,10 +379771,10 @@ synonym: "apert syndrome" EXACT EXCLUDE [DOID:12960] xref: DOID:12960 {source="EFO:0004123", source="MONDO:equivalentTo"} xref: EFO:0004123 {source="MONDO:equivalentTo"} xref: GARD:0000486 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="ORDO:946/ntbt", source="Orphanet:946", source="ORDO:946/inclusion"} +xref: ICD10CM:Q87.0 {source="Orphanet:946/inclusion", source="Orphanet:946", source="Orphanet:946/ntbt"} xref: ICD9:755.55 {source="MONDO:equivalentTo", source="i2s", source="DOID:12960"} -xref: MedDRA:10000590 {source="ORDO:946/e", source="Orphanet:946"} -xref: MESH:D000168 {source="EFO:0004123", source="ORDO:946/e", source="Orphanet:946", source="MONDO:superClassOf", source="DOID:12960"} +xref: MedDRA:10000590 {source="Orphanet:946", source="Orphanet:946/e"} +xref: MESH:D000168 {source="EFO:0004123", source="Orphanet:946", source="MONDO:superClassOf", source="DOID:12960", source="Orphanet:946/e"} xref: NCIT:C34348 {source="MONDO:equivalentTo", source="DOID:12960", source="exact-label-match"} xref: OMIM:101120 {source="GARD:0000486", source="MONDO:superClassOf"} xref: OMIM:101200 {source="EFO:0004123", source="MONDO:superClassOf", source="DOID:12960"} @@ -379947,7 +379784,7 @@ xref: Orphanet:946 {source="MONDO:equivalentTo"} xref: SCTID:205257004 {source="DOID:12960"} xref: SCTID:268262006 {source="MONDO:equivalentTo", source="DOID:12960"} xref: SCTID:63661009 {source="DOID:12960"} -xref: UMLS:C1510455 {source="ORDO:946/e", source="Orphanet:946", source="MONDO:notFoundInDiseaseSubset", source="DOID:12960"} +xref: UMLS:C1510455 {source="Orphanet:946", source="MONDO:notFoundInDiseaseSubset", source="DOID:12960", source="Orphanet:946/e"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34348", source="indirect"} ! syndromic disease is_a: MONDO:0015338 {source="Orphanet:946"} ! syndromic craniosynostosis is_a: MONDO:0018454 ! dysostosis of genetic origin @@ -379966,15 +379803,15 @@ synonym: "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrom synonym: "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" RELATED [GARD:0005724] xref: DOID:14669 {source="MONDO:equivalentTo"} xref: GARD:0005724 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q75.4 {source="Orphanet:950", source="ORDO:950/attributed", source="ORDO:950/ntbt"} +xref: ICD10CM:Q75.4 {source="Orphanet:950", source="Orphanet:950/attributed", source="Orphanet:950/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="ORDO:950/e"} -xref: OMIM:101800 {source="DOID:14669", source="Orphanet:950", source="MONDO:superClassOf", source="ORDO:950/btnt"} -xref: OMIM:614613 {source="DOID:14669", source="Orphanet:950", source="MONDO:superClassOf", source="ORDO:950/btnt"} +xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"} +xref: OMIM:101800 {source="DOID:14669", source="Orphanet:950", source="Orphanet:950/btnt", source="MONDO:superClassOf"} +xref: OMIM:614613 {source="DOID:14669", source="Orphanet:950", source="Orphanet:950/btnt", source="MONDO:superClassOf"} xref: OMIMPS:101800 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:950 {source="MONDO:equivalentTo"} xref: SCTID:66758006 {source="DOID:14669", source="MONDO:equivalentTo"} -xref: UMLS:C0220659 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="ORDO:950/e"} +xref: UMLS:C0220659 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"} is_a: MONDO:0015483 {source="Orphanet:950"} ! mandibulofacial dysostosis is_a: MONDO:0018234 {source="DOID:14669", source="MESH:C538179", source="MONDO:Redundant", source="Orphanet:950/inferred", source="linkedlifedata"} ! dysostosis is_a: MONDO:0019695 {source="Orphanet:950"} ! acromelic dysplasia @@ -379995,14 +379832,14 @@ subset: ordo_disease {source="Orphanet:95159"} synonym: "hep" EXACT [Orphanet:95159] xref: DOID:5230 {source="MONDO:equivalentTo"} xref: GARD:0006169 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E80.2 {source="Orphanet:95159", source="ORDO:95159/attributed", source="ORDO:95159/ntbt"} -xref: MESH:D017121 {source="ORDO:95159/e", source="Orphanet:95159", source="MONDO:equivalentTo", source="DOID:5230"} +xref: ICD10CM:E80.2 {source="Orphanet:95159/attributed", source="Orphanet:95159/ntbt", source="Orphanet:95159"} +xref: MESH:D017121 {source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"} xref: NCIT:C84754 {source="MONDO:equivalentTo", source="DOID:5230"} -xref: OMIM:176100 {source="MONDO:subClassOf", source="Orphanet:95159", source="ORDO:95159/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:176100 {source="MONDO:subClassOf", source="Orphanet:95159/ntbt", source="Orphanet:95159", source="MONDO:directSiblingOf"} xref: Orphanet:95159 {source="MONDO:equivalentTo"} xref: SCTID:111386004 {source="MONDO:equivalentTo", source="DOID:5230"} -xref: UMLS:C0162569 {source="NCIT:C84754", source="ORDO:95159/e", source="Orphanet:95159", source="MONDO:equivalentTo", source="DOID:5230"} -xref: UMLS:C0268324 {source="ORDO:95159/e", source="Orphanet:95159", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0162569 {source="NCIT:C84754", source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"} +xref: UMLS:C0268324 {source="Orphanet:95159", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95159/e"} is_a: MONDO:0015104 {source="NCIT:C84754", source="linkedlifedata"} ! porphyria cutanea tarda is_a: MONDO:0019800 {source="MONDO:Redundant", source="Orphanet:95159", source="indirect"} ! chronic hepatic porphyria property_value: confidence "5.088855295204501" xsd:double @@ -380015,7 +379852,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95161"} synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern] -xref: ICD10CM:E80.2 {source="ORDO:95161/attributed", source="ORDO:95161/ntbt", source="Orphanet:95161"} +xref: ICD10CM:E80.2 {source="Orphanet:95161/attributed", source="Orphanet:95161/ntbt", source="Orphanet:95161"} xref: Orphanet:95161 {source="MONDO:equivalentTo"} intersection_of: MONDO:0002520 ! hepatic porphyria intersection_of: has_modifier PATO:0001863 ! chronic @@ -380032,7 +379869,7 @@ synonym: "acute adrenocortical insufficiency" EXACT [Orphanet:95409] synonym: "Addisonian crisis" EXACT [Orphanet:95409] synonym: "adrenal crisis" EXACT [Orphanet:95409] synonym: "adrenocortical crisis" EXACT [Orphanet:95409] -xref: ICD10CM:E27.2 {source="ORDO:95409/ntbt", source="Orphanet:95409"} +xref: ICD10CM:E27.2 {source="Orphanet:95409/ntbt", source="Orphanet:95409"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C112840 {source="MONDO:equivalentTo"} xref: Orphanet:95409 {source="MONDO:equivalentTo"} @@ -380045,7 +379882,7 @@ id: MONDO:0019802 name: secondary short bowel syndrome def: "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." [Orphanet:95427] subset: ordo_disease {source="Orphanet:95427"} -xref: ICD10CM:K91.2 {source="ORDO:95427/btnt", source="Orphanet:95427"} +xref: ICD10CM:K91.2 {source="Orphanet:95427", source="Orphanet:95427/btnt"} xref: Orphanet:95427 {source="MONDO:equivalentTo"} xref: UMLS:CN206757 {source="MONDO:equivalentTo"} is_a: MONDO:0015183 {source="Orphanet:95427"} ! short bowel syndrome @@ -380057,11 +379894,11 @@ def: "Angioma serpiginosum (AS) is a benign congenital skin disease characterise subset: ordo_disease {source="Orphanet:95429"} synonym: "angioma serpiginosum of skin" EXACT [DOID:4028] xref: DOID:4028 {source="MONDO:equivalentTo"} -xref: ICD10CM:L81.7 {source="ORDO:95429/ntbt", source="DOID:4028", source="Orphanet:95429", source="ORDO:95429/inclusion"} +xref: ICD10CM:L81.7 {source="DOID:4028", source="Orphanet:95429/inclusion", source="Orphanet:95429", source="Orphanet:95429/ntbt"} xref: MESH:C536366 {source="DOID:4028", source="MONDO:superClassOf"} xref: NCIT:C3926 {source="DOID:4028", source="MONDO:equivalentTo"} -xref: OMIM:106050 {source="ORDO:95429/btnt", source="DOID:4028", source="MONDO:superClassOf", source="Orphanet:95429"} -xref: OMIM:300652 {source="ORDO:95429/btnt", source="DOID:4028", source="MONDO:superClassOf", source="Orphanet:95429"} +xref: OMIM:106050 {source="DOID:4028", source="MONDO:superClassOf", source="Orphanet:95429", source="Orphanet:95429/btnt"} +xref: OMIM:300652 {source="DOID:4028", source="MONDO:superClassOf", source="Orphanet:95429", source="Orphanet:95429/btnt"} xref: Orphanet:95429 {source="DOID:4028", source="MONDO:equivalentTo"} xref: SCTID:11790000 {source="DOID:4028"} xref: SCTID:195382003 {source="DOID:4028"} @@ -380087,14 +379924,14 @@ synonym: "type 1 tracheomalacia" RELATED [GARD:0010515] xref: DOID:0060313 {source="MONDO:equivalentTo"} xref: GARD:0010515 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0002779 {source="MONDO:otherHierarchy", source="DOID:0060313"} -xref: ICD10CM:Q32.0 {source="Orphanet:95430", source="ORDO:95430/specific", source="DOID:0060313", source="ORDO:95430/e"} +xref: ICD10CM:Q32.0 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313", source="Orphanet:95430/specific"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10010654 {source="Orphanet:95430", source="ORDO:95430/e"} -xref: MESH:C557675 {source="Orphanet:95430", source="DOID:0060313", source="ORDO:95430/e"} +xref: MedDRA:10010654 {source="Orphanet:95430", source="Orphanet:95430/e"} +xref: MESH:C557675 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313"} xref: NCIT:C98634 {source="MONDO:equivalentTo"} xref: Orphanet:95430 {source="MONDO:equivalentTo", source="DOID:0060313"} xref: SCTID:95467005 {source="MONDO:equivalentTo", source="DOID:0060313"} -xref: UMLS:C0392109 {source="Orphanet:95430", source="DOID:0060313", source="MONDO:notFoundInDiseaseSubset", source="ORDO:95430/e"} +xref: UMLS:C0392109 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0948187 {source="MONDO:equivalentTo", source="NCIT:C98634"} is_a: MONDO:0002567 {source="DOID:0060313", source="NCIT:C98634/inferred", source="linkedlifedata/inferred"} ! tracheal disorder is_a: MONDO:0015221 {source="Orphanet:95430"} ! non-syndromic respiratory or mediastinal malformation @@ -380122,10 +379959,10 @@ synonym: "Twin-Twin transfusion syndrome" EXACT [NCIT:C113824] xref: DOID:13576 {source="EFO:1001221", source="MONDO:equivalentTo"} xref: EFO:1001221 {source="MONDO:equivalentTo"} xref: GARD:0000325 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:O43.0 {source="Orphanet:95431", source="ORDO:95431/ntbt"} +xref: ICD10CM:O43.0 {source="Orphanet:95431/ntbt", source="Orphanet:95431"} xref: ICD10CM:O43.02 {source="DOID:13576"} xref: ICD10CM:O43.029 {source="DOID:13576"} -xref: MedDRA:10058328 {source="Orphanet:95431", source="ORDO:95431/e"} +xref: MedDRA:10058328 {source="Orphanet:95431", source="Orphanet:95431/e"} xref: MESH:D005330 {source="EFO:1001221", source="MONDO:equivalentTo", source="DOID:13576"} xref: NCIT:C113824 {source="MONDO:equivalentTo", source="DOID:13576"} xref: Orphanet:95431 {source="MONDO:equivalentTo"} @@ -380149,11 +379986,11 @@ synonym: "PPA" EXACT ABBREVIATION [Orphanet:95432] synonym: "primary progressive aphasia syndrome" RELATED [GARD:0008541] xref: EFO:0009053 {source="MONDO:equivalentTo"} xref: GARD:0008541 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G31.0 {source="Orphanet:95432", source="ORDO:95432/ntbt"} -xref: MESH:D018888 {source="ORDO:95432/e", source="Orphanet:95432", source="MONDO:equivalentTo"} +xref: ICD10CM:G31.0 {source="Orphanet:95432", source="Orphanet:95432/ntbt"} +xref: MESH:D018888 {source="Orphanet:95432", source="MONDO:equivalentTo", source="Orphanet:95432/e"} xref: NCIT:C85024 {source="MONDO:equivalentTo"} xref: Orphanet:95432 {source="MONDO:equivalentTo"} -xref: UMLS:C0282513 {source="ORDO:95432/e", source="Orphanet:95432", source="MONDO:equivalentTo", source="NCIT:C85024"} +xref: UMLS:C0282513 {source="Orphanet:95432", source="MONDO:equivalentTo", source="Orphanet:95432/e", source="NCIT:C85024"} is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease [Term] @@ -380164,11 +380001,11 @@ synonym: "mesocardia" EXACT [MONDO:ambiguous] synonym: "mesocardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Midline heart" EXACT [Orphanet:95443] xref: HP:0011599 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q24.8 {source="Orphanet:95443", source="ORDO:95443/ntbt"} +xref: ICD10CM:Q24.8 {source="Orphanet:95443", source="Orphanet:95443/ntbt"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:95443 {source="MONDO:equivalentTo"} xref: SCTID:16567006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265865 {source="ORDO:95443/e", source="Orphanet:95443", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265865 {source="Orphanet:95443", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95443/e"} is_a: MONDO:0020284 {source="Orphanet:95443"} ! heart position anomaly property_value: IAO:0000589 "mesocardia (disease)" xsd:string @@ -380182,8 +380019,8 @@ synonym: "aortic valve atresia (disease)" EXACT [https://orcid.org/0000-0002-660 synonym: "congenital aortic valve atresia" EXACT [NCIT:C98818] synonym: "congenital atresia of aortic valve" EXACT [NCIT:C98818] xref: HP:0010883 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q23.0 {source="ORDO:95448/ntbt", source="Orphanet:95448"} -xref: MedDRA:10066801 {source="ORDO:95448/e", source="Orphanet:95448"} +xref: ICD10CM:Q23.0 {source="Orphanet:95448", source="Orphanet:95448/ntbt"} +xref: MedDRA:10066801 {source="Orphanet:95448", source="Orphanet:95448/e"} xref: NCIT:C98818 {source="MONDO:equivalentTo"} xref: Orphanet:95448 {source="MONDO:equivalentTo"} xref: SCTID:51442005 {source="MONDO:equivalentTo"} @@ -380201,13 +380038,13 @@ subset: ordo_disease {source="Orphanet:95449"} synonym: "congenital aortic insufficiency" EXACT [NCIT:C103936] synonym: "congenital insufficiency of aortic valve" EXACT [NCIT:C103936] synonym: "Congential aortic valve insufficiency" EXACT [NCIT:C103936] -xref: ICD10CM:Q23.1 {source="ORDO:95449/e", source="Orphanet:95449"} +xref: ICD10CM:Q23.1 {source="Orphanet:95449", source="Orphanet:95449/e"} xref: ICD9:746.4 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10010370 {source="ORDO:95449/e", source="Orphanet:95449"} +xref: MedDRA:10010370 {source="Orphanet:95449", source="Orphanet:95449/e"} xref: NCIT:C103936 {source="MONDO:equivalentTo"} xref: Orphanet:95449 {source="MONDO:equivalentTo"} xref: SCTID:28656008 {source="MONDO:equivalentTo"} -xref: UMLS:C0158617 {source="NCIT:C103936", source="MONDO:equivalentTo", source="ORDO:95449/e", source="Orphanet:95449"} +xref: UMLS:C0158617 {source="NCIT:C103936", source="MONDO:equivalentTo", source="Orphanet:95449", source="Orphanet:95449/e"} is_a: MONDO:0005648 {source="NCIT:C103936"} ! aortic valve insufficiency is_a: MONDO:0020286 {source="Orphanet:95449"} ! aortic malformation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -380227,15 +380064,15 @@ synonym: "TEN" EXACT ABBREVIATION [NCIT:C79777] synonym: "toxic epidermolysis" EXACT [Orphanet:95455] xref: EFO:0004775 {source="MONDO:equivalentTo"} xref: GARD:0007743 {source="MONDO:equivalentTo"} -xref: ICD10CM:L51.2 {source="ORDO:95455/e", source="Orphanet:95455"} +xref: ICD10CM:L51.2 {source="Orphanet:95455", source="Orphanet:95455/e"} xref: ICD9:695.15 {source="EFO:0004775", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10044223 {source="ORDO:95455/e", source="Orphanet:95455"} -xref: MESH:D004816 {source="ORDO:95455/e", source="Orphanet:95455"} +xref: MedDRA:10044223 {source="Orphanet:95455", source="Orphanet:95455/e"} +xref: MESH:D004816 {source="Orphanet:95455", source="Orphanet:95455/e"} xref: NCIT:C79777 {source="EFO:0004775", source="MONDO:equivalentTo"} -xref: OMIM:608579 {source="MONDO:superClassOf", source="ORDO:95455/ntbt"} +xref: OMIM:608579 {source="Orphanet:95455/ntbt", source="MONDO:superClassOf"} xref: Orphanet:95455 {source="MONDO:equivalentTo"} xref: SCTID:23067006 {source="MONDO:equivalentTo"} -xref: UMLS:C0014518 {source="ORDO:95455/e", source="Orphanet:95455", source="MONDO:equivalentTo", source="NCIT:C79777"} +xref: UMLS:C0014518 {source="Orphanet:95455", source="MONDO:equivalentTo", source="NCIT:C79777", source="Orphanet:95455/e"} is_a: MONDO:0017396 {source="Orphanet:95455"} ! toxic dermatosis property_value: confidence "0.5" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis xsd:anyURI {source="GARD:0007743"} @@ -380245,7 +380082,7 @@ id: MONDO:0019811 name: tricuspid valve agenesis subset: ordo_morphological_anomaly {source="Orphanet:95457"} synonym: "congenital unguarded tricuspid orifice" EXACT [Orphanet:95457] -xref: ICD10CM:Q22.4 {source="Orphanet:95457", source="ORDO:95457/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:Q22.4 {source="Orphanet:95457", source="MONDO:directSiblingOf", source="Orphanet:95457/ntbt"} xref: Orphanet:95457 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95457"} ! congenital tricuspid malformation @@ -380259,11 +380096,11 @@ replaced_by: MONDO:0007001 id: MONDO:0019813 name: congenital tricuspid stenosis subset: ordo_morphological_anomaly {source="Orphanet:95459"} -xref: ICD10CM:Q22.4 {source="ORDO:95459/e", source="MONDO:equivalentTo", source="Orphanet:95459"} -xref: MedDRA:10010656 {source="ORDO:95459/e", source="Orphanet:95459"} +xref: ICD10CM:Q22.4 {source="MONDO:equivalentTo", source="Orphanet:95459", source="Orphanet:95459/e"} +xref: MedDRA:10010656 {source="Orphanet:95459", source="Orphanet:95459/e"} xref: Orphanet:95459 {source="MONDO:equivalentTo"} xref: SCTID:36233006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265836 {source="ORDO:95459/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95459"} +xref: UMLS:C0265836 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95459", source="Orphanet:95459/e"} is_a: MONDO:0020289 {source="Orphanet:95459"} ! congenital tricuspid malformation [Term] @@ -380271,7 +380108,7 @@ id: MONDO:0019814 name: straddling or overriding tricuspid valve def: "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." [Orphanet:95461] subset: ordo_morphological_anomaly {source="Orphanet:95461"} -xref: ICD10CM:Q22.8 {source="ORDO:95461/ntbt", source="Orphanet:95461"} +xref: ICD10CM:Q22.8 {source="Orphanet:95461/ntbt", source="Orphanet:95461"} xref: Orphanet:95461 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95461"} ! congenital tricuspid malformation @@ -380280,7 +380117,7 @@ id: MONDO:0019815 name: accessory tricuspid valve tissue def: "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." [Orphanet:95462] subset: ordo_morphological_anomaly {source="Orphanet:95462"} -xref: ICD10CM:Q22.8 {source="Orphanet:95462", source="ORDO:95462/ntbt"} +xref: ICD10CM:Q22.8 {source="Orphanet:95462", source="Orphanet:95462/ntbt"} xref: Orphanet:95462 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95462"} ! congenital tricuspid malformation @@ -380289,7 +380126,7 @@ id: MONDO:0019816 name: anomaly of the tricuspid subvalvular apparatus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95463"} -xref: ICD10CM:Q22.8 {source="Orphanet:95463", source="ORDO:95463/ntbt"} +xref: ICD10CM:Q22.8 {source="Orphanet:95463", source="Orphanet:95463/ntbt"} xref: Orphanet:95463 {source="MONDO:equivalentTo"} is_a: MONDO:0020289 {source="Orphanet:95463"} ! congenital tricuspid malformation @@ -380299,8 +380136,8 @@ name: congenital mitral valve insufficiency and/or stenosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95464"} xref: ICD10CM:Q23 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q23.2 {source="Orphanet:95464", source="MONDO:superClassOf", source="ORDO:95464/btnt"} -xref: ICD10CM:Q23.3 {source="Orphanet:95464", source="ORDO:95464/btnt"} +xref: ICD10CM:Q23.2 {source="Orphanet:95464/btnt", source="Orphanet:95464", source="MONDO:superClassOf"} +xref: ICD10CM:Q23.3 {source="Orphanet:95464/btnt", source="Orphanet:95464"} xref: Orphanet:95464 {source="MONDO:equivalentTo"} is_a: MONDO:0016582 {source="Orphanet:95464"} ! congenital mitral malformation @@ -380308,7 +380145,7 @@ is_a: MONDO:0016582 {source="Orphanet:95464"} ! congenital mitral malformation id: MONDO:0019818 name: cleft mitral valve subset: ordo_morphological_anomaly {source="Orphanet:95465"} -xref: ICD10CM:Q23.3 {source="Orphanet:95465", source="ORDO:95465/ntbt"} +xref: ICD10CM:Q23.3 {source="Orphanet:95465", source="Orphanet:95465/ntbt"} xref: Orphanet:95465 {source="MONDO:equivalentTo"} is_a: MONDO:0016582 {source="Orphanet:95465"} ! congenital mitral malformation @@ -380316,11 +380153,11 @@ is_a: MONDO:0016582 {source="Orphanet:95465"} ! congenital mitral malformation id: MONDO:0019819 name: double-orifice mitral valve subset: ordo_clinical_subtype {source="Orphanet:95474"} -xref: ICD10CM:Q23.8 {source="Orphanet:95474", source="ORDO:95474/ntbt"} +xref: ICD10CM:Q23.8 {source="Orphanet:95474", source="Orphanet:95474/ntbt"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:95474 {source="MONDO:equivalentTo"} xref: SCTID:253402005 {source="MONDO:equivalentTo"} -xref: UMLS:C0344770 {source="Orphanet:95474", source="MONDO:notFoundInDiseaseSubset", source="ORDO:95474/e"} +xref: UMLS:C0344770 {source="Orphanet:95474", source="Orphanet:95474/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019818 {source="Orphanet:95474"} ! cleft mitral valve [Term] @@ -380335,7 +380172,7 @@ is_a: MONDO:0019512 {source="Orphanet:95483"} ! congenital heart malformation id: MONDO:0019821 name: aneurysm or dilatation of ascending aorta subset: ordo_morphological_anomaly {source="Orphanet:95484"} -xref: ICD10CM:Q25.4 {source="Orphanet:95484", source="ORDO:95484/ntbt"} +xref: ICD10CM:Q25.4 {source="Orphanet:95484", source="Orphanet:95484/ntbt"} xref: Orphanet:95484 {source="MONDO:equivalentTo"} is_a: MONDO:0020293 {source="Orphanet:95484"} ! ascending aorta anomaly @@ -380354,7 +380191,7 @@ name: premature closure of the arterial duct def: "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." [Orphanet:95486] subset: ordo_morphological_anomaly {source="Orphanet:95486"} synonym: "premature closure of the patent ductus arteriosus" EXACT [Orphanet:95486] -xref: ICD10CM:Q25.8 {source="Orphanet:95486", source="ORDO:95486/ntbt"} +xref: ICD10CM:Q25.8 {source="Orphanet:95486/ntbt", source="Orphanet:95486"} xref: Orphanet:95486 {source="MONDO:equivalentTo"} is_a: MONDO:0019822 {source="Orphanet:95486"} ! arterial duct anomaly @@ -380364,7 +380201,7 @@ name: non-acquired pituitary hormone deficiency comment: Editor note: consider merging with familial hypopituitarism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95488"} -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95488", source="ORDO:95488/attributed", source="ORDO:95488/ntbt"} +xref: ICD10CM:E23.0 {source="Orphanet:95488/attributed", source="Orphanet:95488/ntbt", source="MONDO:relatedTo", source="Orphanet:95488"} xref: Orphanet:95488 {source="MONDO:equivalentTo"} is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder is_a: MONDO:0015127 {source="Orphanet:95488"} ! pituitary deficiency @@ -380376,7 +380213,7 @@ name: congenital coronary artery aneurysm def: "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." [Orphanet:95491] subset: ordo_morphological_anomaly {source="Orphanet:95491"} synonym: "congenital coronary aneurysm" EXACT [Orphanet:95491] -xref: ICD10CM:Q24.5 {source="ORDO:95491/ntbt", source="Orphanet:95491"} +xref: ICD10CM:Q24.5 {source="Orphanet:95491/ntbt", source="Orphanet:95491"} xref: Orphanet:95491 {source="MONDO:equivalentTo"} xref: SCTID:204378009 {source="MONDO:equivalentTo"} is_a: MONDO:0015203 {source="Orphanet:95491"} ! coronary artery congenital malformation @@ -380386,7 +380223,7 @@ id: MONDO:0019826 name: abnormal origin or aberrant course of coronary artery subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95493"} -xref: ICD10CM:Q24.5 {source="ORDO:95493/ntbt", source="Orphanet:95493"} +xref: ICD10CM:Q24.5 {source="Orphanet:95493/ntbt", source="Orphanet:95493"} xref: Orphanet:95493 {source="MONDO:equivalentTo"} is_a: MONDO:0015203 {source="Orphanet:95493"} ! coronary artery congenital malformation @@ -380413,7 +380250,7 @@ synonym: "ectopic neurohypophysis" EXACT [Orphanet:95496] synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" EXACT [NCIT:C121150] synonym: "PSIS" EXACT ABBREVIATION [Orphanet:95496] xref: GARD:0013209 {source="MONDO:equivalentTo"} -xref: ICD10CM:E23.6 {source="Orphanet:95496", source="ORDO:95496/attributed", source="ORDO:95496/ntbt"} +xref: ICD10CM:E23.6 {source="Orphanet:95496", source="Orphanet:95496/attributed", source="Orphanet:95496/ntbt"} xref: NCIT:C121150 {source="MONDO:equivalentTo"} xref: Orphanet:95496 {source="MONDO:equivalentTo"} xref: SCTID:715727009 {source="MONDO:equivalentTo"} @@ -380430,11 +380267,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95498"} synonym: "congenital anomaly of superior caval vein" EXACT [Orphanet:95498] synonym: "congenital anomaly of the SVC" EXACT [Orphanet:95498] -xref: ICD10CM:Q26.9 {source="Orphanet:95498", source="ORDO:95498/ntbt"} +xref: ICD10CM:Q26.9 {source="Orphanet:95498", source="Orphanet:95498/ntbt"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:95498 {source="MONDO:equivalentTo"} xref: SCTID:70195006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265928 {source="ORDO:95498/e", source="Orphanet:95498", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265928 {source="Orphanet:95498", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95498/e"} is_a: MONDO:0017710 {source="Orphanet:95498"} ! congenital systemic veins anomaly [Term] @@ -380444,11 +380281,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95499"} synonym: "congenital anomaly of the inferior caval vein" EXACT [Orphanet:95499] synonym: "congenital anomaly of the IVC" EXACT [Orphanet:95499] -xref: ICD10CM:Q26.9 {source="Orphanet:95499", source="ORDO:95499/ntbt"} +xref: ICD10CM:Q26.9 {source="Orphanet:95499/ntbt", source="Orphanet:95499"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:95499 {source="MONDO:equivalentTo"} xref: SCTID:81577001 {source="MONDO:equivalentTo"} -xref: UMLS:C0265932 {source="ORDO:95499/e", source="Orphanet:95499", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0265932 {source="Orphanet:95499", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95499/e"} is_a: MONDO:0017710 {source="Orphanet:95499"} ! congenital systemic veins anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -380458,7 +380295,7 @@ id: MONDO:0019831 name: congenital anomaly of the coronary sinus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95500"} -xref: ICD10CM:Q21.1 {source="Orphanet:95500", source="ORDO:95500/ntbt"} +xref: ICD10CM:Q21.1 {source="Orphanet:95500/ntbt", source="Orphanet:95500"} xref: Orphanet:95500 {source="MONDO:equivalentTo"} is_a: MONDO:0017710 {source="Orphanet:95500"} ! congenital systemic veins anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -380472,7 +380309,7 @@ comment: Editor note: check this subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95502"} synonym: "acquired hypopituitarism" EXACT [MONDO:patterns/acquired] -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="ORDO:95502/ntbt", source="Orphanet:95502"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95502", source="Orphanet:95502/ntbt"} xref: Orphanet:95502 {source="MONDO:equivalentTo"} is_a: MONDO:0015127 {source="MONDO:Redundant", source="Orphanet:95502"} ! pituitary deficiency intersection_of: MONDO:0005152 ! hypopituitarism @@ -380504,7 +380341,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95506"} synonym: "autoimmune hypophysitis" EXACT [Orphanet:95506] synonym: "lymphocytic hypophysitis" EXACT [NCIT:C132055] -xref: ICD10CM:E23.6 {source="ORDO:95506/ntbt", source="Orphanet:95506"} +xref: ICD10CM:E23.6 {source="Orphanet:95506", source="Orphanet:95506/ntbt"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D000069281 {source="MONDO:equivalentTo"} @@ -380521,9 +380358,9 @@ relationship: disease_has_inflammation_site UBERON:0000007 ! pituitary gland id: MONDO:0019836 name: congenital anomaly of hepatic vein subset: ordo_morphological_anomaly {source="Orphanet:95507"} -xref: ICD10CM:Q26.8 {source="ORDO:95507/ntbt", source="Orphanet:95507"} +xref: ICD10CM:Q26.8 {source="Orphanet:95507/ntbt", source="Orphanet:95507"} xref: Orphanet:95507 {source="MONDO:equivalentTo"} -xref: UMLS:C3163825 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:95507/e", source="Orphanet:95507"} +xref: UMLS:C3163825 {source="Orphanet:95507/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95507"} is_a: MONDO:0017710 {source="Orphanet:95507"} ! congenital systemic veins anomaly relationship: has_modifier MONDO:0021136 {source="MONDO:0015113"} ! rare relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -380535,7 +380372,7 @@ name: atrial appendage anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95510"} synonym: "atrial auricle anomaly" EXACT [Orphanet:95510] -xref: ICD10CM:Q20.8 {source="Orphanet:95510", source="ORDO:95510/ntbt"} +xref: ICD10CM:Q20.8 {source="Orphanet:95510/ntbt", source="Orphanet:95510"} xref: Orphanet:95510 {source="MONDO:equivalentTo"} is_a: MONDO:0020294 {source="Orphanet:95510"} ! atrial defect and interatrial communication @@ -380548,7 +380385,7 @@ synonym: "adenohypophysis inflammation" EXACT [MONDO:patterns/inflammatory_disea synonym: "anterior pituitary hypophysitis" EXACT [Orphanet:95512] synonym: "inflammation of adenohypophysis" EXACT [] synonym: "lymphocytic adenohypophysitis" EXACT [PMID:21592417] -xref: ICD10CM:E23.6 {source="Orphanet:95512", source="ORDO:95512/ntbt"} +xref: ICD10CM:E23.6 {source="Orphanet:95512", source="Orphanet:95512/ntbt"} xref: Orphanet:95512 {source="MONDO:equivalentTo"} is_a: MONDO:0019835 {source="Orphanet:95512"} ! primary hypophysitis intersection_of: MONDO:0000001 ! disease or disorder @@ -380559,7 +380396,7 @@ id: MONDO:0019839 name: panhypophysitis subset: ordo_disease {source="Orphanet:95513"} synonym: "Infundibulo-panhypophysitis" EXACT [Orphanet:95513] -xref: ICD10CM:E23.6 {source="ORDO:95513/ntbt", source="Orphanet:95513"} +xref: ICD10CM:E23.6 {source="Orphanet:95513", source="Orphanet:95513/ntbt"} xref: Orphanet:95513 {source="MONDO:equivalentTo"} is_a: MONDO:0019835 {source="Orphanet:95513"} ! primary hypophysitis @@ -380572,7 +380409,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:956"} synonym: "acro-pectoro-renal field defect" RELATED [GARD:0000511] synonym: "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys" RELATED [GARD:0000511] xref: GARD:0000511 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.8 {source="Orphanet:956", source="ORDO:956/attributed", source="ORDO:956/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:956", source="Orphanet:956/attributed", source="Orphanet:956/ntbt"} xref: Orphanet:956 {source="MONDO:equivalentObsolete", source="GARD:0000511"} xref: SCTID:720413004 {source="MONDO:equivalentTo"} is_a: MONDO:0015856 {source="Orphanet:956"} ! syndromic breast hypoplasia/aplasia @@ -380584,7 +380421,7 @@ id: MONDO:0019841 name: pituitary hormone defiency from vascular origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95611"} -xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95611", source="ORDO:95611/ntbt"} +xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95611", source="Orphanet:95611/ntbt"} xref: Orphanet:95611 {source="MONDO:equivalentTo"} is_a: MONDO:0019832 {source="Orphanet:95611"} ! acquired pituitary hormone deficiency @@ -380618,7 +380455,7 @@ relationship: excluded_subClassOf MONDO:0019832 {source="Orphanet:95618"} ! acqu id: MONDO:0019845 name: iatrogenic or traumatic pituitary deficiency subset: ordo_disease {source="Orphanet:95619"} -xref: ICD10CM:E23.1 {source="ORDO:95619/ntbt", source="Orphanet:95619"} +xref: ICD10CM:E23.1 {source="Orphanet:95619/ntbt", source="Orphanet:95619"} xref: Orphanet:95619 {source="MONDO:equivalentTo"} is_a: MONDO:0019832 {source="Orphanet:95619"} ! acquired pituitary hormone deficiency @@ -380630,7 +380467,7 @@ subset: ordo_clinical_subtype {source="Orphanet:95626"} synonym: "acquired CDI" EXACT [Orphanet:95626] synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired] synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626] -xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="ORDO:95626/ntbt", source="Orphanet:95626"} +xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:95626/ntbt", source="Orphanet:95626"} xref: Orphanet:95626 {source="MONDO:equivalentTo"} is_a: MONDO:0015790 {source="MONDO:Redundant", source="Orphanet:95626"} ! central diabetes insipidus intersection_of: MONDO:0015790 ! central diabetes insipidus @@ -380641,7 +380478,7 @@ id: MONDO:0019847 name: obsolete congenital adrenal hypoplasia of maternal cause comment: Deprecated in Orphanet. subset: ordo_disease {source="Orphanet:95701"} -xref: ICD10CM:E27.1 {source="ORDO:95701/ntbt", source="Orphanet:95701"} +xref: ICD10CM:E27.1 {source="Orphanet:95701", source="Orphanet:95701/ntbt"} xref: Orphanet:95701 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0010264 @@ -380652,8 +380489,8 @@ name: posterior hypospadias def: "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." [Orphanet:95706] subset: ordo_morphological_anomaly {source="Orphanet:95706"} synonym: "perineal, scrotal or penoscrotal hypospadias" EXACT [Orphanet:95706] -xref: ICD10CM:Q54.2 {source="ORDO:95706/btnt", source="Orphanet:95706"} -xref: ICD10CM:Q54.3 {source="ORDO:95706/btnt", source="Orphanet:95706"} +xref: ICD10CM:Q54.2 {source="Orphanet:95706/btnt", source="Orphanet:95706"} +xref: ICD10CM:Q54.3 {source="Orphanet:95706/btnt", source="Orphanet:95706"} xref: Orphanet:95706 {source="MONDO:equivalentTo"} is_a: MONDO:0015933 {source="Orphanet:95706"} ! non-syndromic urogenital tract malformation of male @@ -380661,7 +380498,7 @@ is_a: MONDO:0015933 {source="Orphanet:95706"} ! non-syndromic urogenital tract m id: MONDO:0019849 name: isolated micropenis subset: ordo_morphological_anomaly {source="Orphanet:95707"} -xref: ICD10CM:Q55.6 {source="ORDO:95707/ntbt", source="Orphanet:95707"} +xref: ICD10CM:Q55.6 {source="Orphanet:95707/ntbt", source="Orphanet:95707"} xref: Orphanet:95707 {source="MONDO:equivalentTo"} xref: UMLS:C0266435 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95707"} xref: UMLS:C1387005 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95707"} @@ -380681,7 +380518,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:95709"} synonym: "acquired premature ovarian failure" RELATED [Orphanet:95709] synonym: "acquired primary ovarian failure" EXACT [MONDO:patterns/acquired] -xref: ICD10CM:E28.8 {source="Orphanet:95709", source="ORDO:95709/attributed", source="ORDO:95709/ntbt"} +xref: ICD10CM:E28.8 {source="Orphanet:95709", source="Orphanet:95709/attributed", source="Orphanet:95709/ntbt"} xref: Orphanet:95709 {source="MONDO:equivalentTo"} xref: SCTID:717954003 {source="MONDO:equivalentTo"} xref: UMLS:C4303540 {source="MONDO:equivalentTo"} @@ -380700,7 +380537,7 @@ subset: ordo_group_of_disorders {source="Orphanet:95710"} synonym: "hereditary primary ovarian failure" EXACT [MONDO:patterns/hereditary] synonym: "inherited premature ovarian failure" EXACT [OMIMPS:311360] synonym: "non-acquired premature ovarian failure" RELATED [] -xref: ICD10CM:E28.3 {source="MONDO:relatedTo", source="Orphanet:95710", source="ORDO:95710/attributed", source="ORDO:95710/ntbt"} +xref: ICD10CM:E28.3 {source="MONDO:relatedTo", source="Orphanet:95710", source="Orphanet:95710/attributed", source="Orphanet:95710/ntbt"} xref: OMIM:300510 {source="DOID:5426", source="MONDO:superClassOf"} xref: OMIM:300511 {source="EFO:0004266", source="DOID:5426", source="MONDO:superClassOf"} xref: OMIM:300604 {source="EFO:0004266", source="DOID:5426", source="MONDO:superClassOf"} @@ -380730,7 +380567,7 @@ def: "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. subset: ordo_group_of_disorders {source="Orphanet:95711"} synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [Orphanet:95711] -xref: ICD10CM:E03.1 {source="ORDO:95711/attributed", source="ORDO:95711/ntbt", source="Orphanet:95711"} +xref: ICD10CM:E03.1 {source="Orphanet:95711", source="Orphanet:95711/attributed", source="Orphanet:95711/ntbt"} xref: Orphanet:95711 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 property_value: IAO:0000231 "out of scope" xsd:string @@ -380742,9 +380579,9 @@ id: MONDO:0019854 name: thyroid ectopia def: "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95712] subset: ordo_morphological_anomaly {source="Orphanet:95712"} -xref: ICD10CM:E03.1 {source="ORDO:95712/attributed", source="ORDO:95712/ntbt", source="Orphanet:95712"} -xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:95712/ntbt", source="Orphanet:95712"} -xref: OMIM:225250 {source="MONDO:superClassOf", source="ORDO:95712/btnt", source="Orphanet:95712"} +xref: ICD10CM:E03.1 {source="Orphanet:95712", source="Orphanet:95712/attributed", source="Orphanet:95712/ntbt"} +xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:95712", source="Orphanet:95712/ntbt"} +xref: OMIM:225250 {source="MONDO:superClassOf", source="Orphanet:95712", source="Orphanet:95712/btnt"} xref: Orphanet:95712 {source="MONDO:equivalentTo"} xref: UMLS:C0266283 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95712"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone @@ -380757,9 +380594,9 @@ id: MONDO:0019855 name: athyreosis def: "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95713] subset: ordo_morphological_anomaly {source="Orphanet:95713"} -xref: ICD10CM:E03.1 {source="ORDO:95713/attributed", source="ORDO:95713/ntbt", source="Orphanet:95713"} -xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:95713/ntbt", source="Orphanet:95713"} -xref: OMIM:225250 {source="ORDO:95713/btnt", source="MONDO:superClassOf", source="Orphanet:95713"} +xref: ICD10CM:E03.1 {source="Orphanet:95713", source="Orphanet:95713/attributed", source="Orphanet:95713/ntbt"} +xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:95713", source="Orphanet:95713/ntbt"} +xref: OMIM:225250 {source="MONDO:superClassOf", source="Orphanet:95713", source="Orphanet:95713/btnt"} xref: Orphanet:95713 {source="MONDO:equivalentTo"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone is_a: MONDO:0016409 ! primary congenital hypothyroidism @@ -380772,8 +380609,8 @@ name: obsolete primary congenital hypothyroidism without thyroid developmental a def: "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." [Orphanet:95714] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary congenital hypothyroidism' subset: ordo_group_of_disorders {source="Orphanet:95714"} -xref: ICD10CM:E03.0 {source="ORDO:95714/attributed", source="ORDO:95714/ntbt", source="Orphanet:95714"} -xref: ICD10CM:E03.1 {source="ORDO:95714/attributed", source="ORDO:95714/ntbt", source="Orphanet:95714"} +xref: ICD10CM:E03.0 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"} +xref: ICD10CM:E03.1 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"} xref: Orphanet:95714 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -380786,7 +380623,7 @@ id: MONDO:0019857 name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies def: "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." [Orphanet:95715] subset: ordo_disease {source="Orphanet:95715"} -xref: ICD10CM:P72.2 {source="ORDO:95715/ntbt", source="Orphanet:95715"} +xref: ICD10CM:P72.2 {source="Orphanet:95715", source="Orphanet:95715/ntbt"} xref: Orphanet:95715 {source="MONDO:equivalentTo"} xref: SCTID:717333002 {source="MONDO:equivalentTo"} xref: UMLS:C4273914 {source="MONDO:equivalentTo"} @@ -380799,7 +380636,7 @@ id: MONDO:0019858 name: idiopathic congenital hypothyroidism def: "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." [Orphanet:95717] subset: ordo_disease {source="Orphanet:95717"} -xref: ICD10CM:E03.1 {source="ORDO:95717/attributed", source="ORDO:95717/ntbt", source="Orphanet:95717"} +xref: ICD10CM:E03.1 {source="Orphanet:95717/attributed", source="Orphanet:95717/ntbt", source="Orphanet:95717"} xref: Orphanet:95717 {source="MONDO:equivalentTo"} xref: SCTID:717334008 {source="MONDO:equivalentTo"} xref: UMLS:C4273913 {source="MONDO:equivalentTo"} @@ -380813,7 +380650,7 @@ id: MONDO:0019859 name: obsolete congenital thyroid malformation without hypothyroidism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: thyroid gland disease' subset: ordo_group_of_disorders {source="Orphanet:95718"} -xref: ICD10CM:Q89.2 {source="ORDO:95718/ntbt", source="Orphanet:95718"} +xref: ICD10CM:Q89.2 {source="Orphanet:95718/ntbt", source="Orphanet:95718"} xref: Orphanet:95718 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -380826,8 +380663,8 @@ id: MONDO:0019860 name: thyroid hemiagenesis def: "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95719] subset: ordo_morphological_anomaly {source="Orphanet:95719"} -xref: ICD10CM:E03.1 {source="ORDO:95719/attributed", source="ORDO:95719/ntbt", source="Orphanet:95719"} -xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:95719/ntbt", source="Orphanet:95719"} +xref: ICD10CM:E03.1 {source="Orphanet:95719/attributed", source="Orphanet:95719/ntbt", source="Orphanet:95719"} +xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:95719/ntbt", source="Orphanet:95719"} xref: Orphanet:95719 {source="MONDO:equivalentTo"} xref: SCTID:715734006 {source="MONDO:equivalentTo"} xref: UMLS:C4023190 {source="MONDO:equivalentTo"} @@ -380843,12 +380680,12 @@ id: MONDO:0019861 name: thyroid hypoplasia def: "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95720] subset: ordo_morphological_anomaly {source="Orphanet:95720"} -xref: ICD10CM:E03.1 {source="Orphanet:95720", source="ORDO:95720/attributed", source="ORDO:95720/ntbt"} -xref: MedDRA:10065938 {source="ORDO:95720/e", source="Orphanet:95720"} -xref: OMIM:218700 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:95720", source="ORDO:95720/ntbt"} -xref: OMIM:225250 {source="Orphanet:95720", source="MONDO:superClassOf", source="ORDO:95720/btnt"} +xref: ICD10CM:E03.1 {source="Orphanet:95720/attributed", source="Orphanet:95720/ntbt", source="Orphanet:95720"} +xref: MedDRA:10065938 {source="Orphanet:95720", source="Orphanet:95720/e"} +xref: OMIM:218700 {source="MONDO:subClassOf", source="Orphanet:95720/ntbt", source="MONDO:relatedTo", source="Orphanet:95720"} +xref: OMIM:225250 {source="Orphanet:95720/btnt", source="Orphanet:95720", source="MONDO:superClassOf"} xref: Orphanet:95720 {source="MONDO:equivalentTo"} -xref: UMLS:C0151516 {source="ORDO:95720/e", source="Orphanet:95720", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0151516 {source="Orphanet:95720", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95720/e"} is_a: MONDO:0003240 ! thyroid gland disorder is_a: MONDO:0009043 ! generalized resistance to thyroid hormone is_a: MONDO:0016409 ! primary congenital hypothyroidism @@ -380866,13 +380703,13 @@ synonym: "Isolated levocardia with situs inversus" NARROW [GARD:0012032] synonym: "levocardia-situs inversus" EXACT [Orphanet:95854] synonym: "Situs inversus with levocardia" NARROW [GARD:0012032] xref: GARD:0012032 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q24.1 {source="ORDO:95854/e", source="MONDO:equivalentTo", source="Orphanet:95854"} -xref: MedDRA:10071015 {source="ORDO:95854/e", source="Orphanet:95854"} -xref: MESH:D007979 {source="ORDO:95854/e", source="MONDO:equivalentTo", source="Orphanet:95854"} +xref: ICD10CM:Q24.1 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"} +xref: MedDRA:10071015 {source="Orphanet:95854", source="Orphanet:95854/e"} +xref: MESH:D007979 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"} xref: NCIT:C111647 {source="MONDO:equivalentTo"} xref: Orphanet:95854 {source="MONDO:equivalentTo"} xref: SCTID:205769006 {source="MONDO:equivalentTo"} -xref: UMLS:C0023569 {source="NCIT:C111647", source="ORDO:95854/e", source="MONDO:equivalentTo", source="Orphanet:95854"} +xref: UMLS:C0023569 {source="NCIT:C111647", source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"} is_a: MONDO:0018677 {source="Orphanet:95854"} ! visceral heterotaxy [Term] @@ -380892,7 +380729,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96055"} synonym: "Isochromosome 21" EXACT [Orphanet:96055] synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055] xref: GARD:0012480 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="ORDO:96055/attributed", source="ORDO:96055/ntbt", source="Orphanet:96055"} +xref: ICD10CM:Q99.8 {source="Orphanet:96055/attributed", source="Orphanet:96055/ntbt", source="Orphanet:96055"} xref: Orphanet:96055 {source="MONDO:equivalentTo"} xref: SCTID:764690001 {source="MONDO:equivalentTo"} is_a: MONDO:0020052 {source="Orphanet:96055"} ! partial autosomal trisomy/tetrasomy @@ -380910,7 +380747,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96059"} synonym: "Mosaic trisomy chromosome 4" EXACT [Orphanet:96059] synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1, Orphanet:96059] synonym: "trisomy 4 mosaicism" EXACT [Orphanet:96059] -xref: ICD10CM:Q92.1 {source="Orphanet:96059", source="ORDO:96059/attributed", source="ORDO:96059/ntbt"} +xref: ICD10CM:Q92.1 {source="Orphanet:96059", source="Orphanet:96059/attributed", source="Orphanet:96059/ntbt"} xref: Orphanet:96059 {source="MONDO:equivalentTo"} xref: SCTID:764628000 {source="MONDO:equivalentTo"} is_a: MONDO:0020051 {source="Orphanet:96059"} ! total autosomal trisomy @@ -380927,7 +380764,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96060"} synonym: "Mosaic trisomy chromosome 5" EXACT [Orphanet:96060] synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1, Orphanet:96060] synonym: "trisomy 5 mosaicism" EXACT [Orphanet:96060] -xref: ICD10CM:Q92.1 {source="ORDO:96060/attributed", source="ORDO:96060/ntbt", source="Orphanet:96060"} +xref: ICD10CM:Q92.1 {source="Orphanet:96060", source="Orphanet:96060/attributed", source="Orphanet:96060/ntbt"} xref: MESH:C537762 {source="MONDO:equivalentTo"} xref: Orphanet:96060 {source="MONDO:equivalentTo"} xref: SCTID:764629008 {source="MONDO:equivalentTo"} @@ -380948,12 +380785,12 @@ synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1, Orphanet:96061] synonym: "trisomy 8 mosaicism" RELATED [GARD:0005359] synonym: "Warkany syndrome" EXACT [Orphanet:96061] xref: GARD:0005359 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="ORDO:96061/attributed", source="ORDO:96061/ntbt", source="Orphanet:96061"} -xref: MedDRA:10053916 {source="ORDO:96061/e", source="Orphanet:96061"} -xref: MESH:C537940 {source="MONDO:equivalentTo", source="ORDO:96061/e", source="Orphanet:96061"} +xref: ICD10CM:Q92.1 {source="Orphanet:96061/attributed", source="Orphanet:96061/ntbt", source="Orphanet:96061"} +xref: MedDRA:10053916 {source="Orphanet:96061/e", source="Orphanet:96061"} +xref: MESH:C537940 {source="Orphanet:96061/e", source="MONDO:equivalentTo", source="Orphanet:96061"} xref: Orphanet:96061 {source="MONDO:equivalentTo"} xref: SCTID:717335009 {source="MONDO:equivalentTo"} -xref: UMLS:C1096527 {source="ORDO:96061/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96061"} +xref: UMLS:C1096527 {source="Orphanet:96061/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96061"} is_a: MONDO:0020051 {source="Orphanet:96061"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human) @@ -380975,7 +380812,7 @@ synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2, Orphanet:96063] synonym: "trisomy 10 mosaicism" EXACT [Orphanet:96063] synonym: "uniparental disomy of 10" RELATED [GARD:0005406] xref: GARD:0005406 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="ORDO:96063/attributed", source="ORDO:96063/ntbt", source="Orphanet:96063"} +xref: ICD10CM:Q92.1 {source="Orphanet:96063/attributed", source="Orphanet:96063/ntbt", source="Orphanet:96063"} xref: MESH:C538292 {source="MONDO:equivalentTo"} xref: Orphanet:96063 {source="MONDO:equivalentTo"} xref: SCTID:764461004 {source="MONDO:equivalentTo"} @@ -380997,12 +380834,12 @@ synonym: "Mosaic trisomy chromosome 22" RELATED [GARD:0006085] synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2, Orphanet:96068] synonym: "trisomy 22 mosaicism" RELATED [GARD:0006085] xref: GARD:0006085 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="Orphanet:96068", source="ORDO:96068/attributed", source="ORDO:96068/ntbt"} -xref: MESH:C536796 {source="Orphanet:96068", source="MONDO:equivalentTo", source="ORDO:96068/e"} +xref: ICD10CM:Q92.1 {source="Orphanet:96068", source="Orphanet:96068/attributed", source="Orphanet:96068/ntbt"} +xref: MESH:C536796 {source="Orphanet:96068", source="MONDO:equivalentTo", source="Orphanet:96068/e"} xref: Orphanet:96068 {source="MONDO:equivalentTo"} xref: SCTID:764625002 {source="MONDO:equivalentTo"} -xref: UMLS:C2931326 {source="Orphanet:96068", source="MONDO:notFoundInDiseaseSubset", source="ORDO:96068/e"} -xref: UMLS:C2931327 {source="Orphanet:96068", source="MONDO:notFoundInDiseaseSubset", source="ORDO:96068/e"} +xref: UMLS:C2931326 {source="Orphanet:96068", source="Orphanet:96068/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931327 {source="Orphanet:96068", source="Orphanet:96068/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020051 {source="Orphanet:96068"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human) @@ -381100,7 +380937,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3492 id: MONDO:0019875 name: Beckwith-Wiedemann syndrome due to 11p15 microduplication subset: ordo_etiological_subtype {source="Orphanet:96076"} -xref: ICD10CM:Q87.3 {source="ORDO:96076/attributed", source="ORDO:96076/ntbt", source="Orphanet:96076"} +xref: ICD10CM:Q87.3 {source="Orphanet:96076/attributed", source="Orphanet:96076/ntbt", source="Orphanet:96076"} xref: Orphanet:96076 {source="MONDO:equivalentTo"} xref: UMLS:CN206810 {source="MONDO:equivalentTo"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication @@ -381116,7 +380953,7 @@ def: "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromo subset: ordo_malformation_syndrome {source="Orphanet:96092"} synonym: "Invdupdel(8p)" EXACT [Orphanet:96092] synonym: "inverted 8p duplication/deletion syndrome" EXACT [Orphanet:96092] -xref: ICD10CM:Q99.8 {source="ORDO:96092/attributed", source="ORDO:96092/ntbt", source="Orphanet:96092"} +xref: ICD10CM:Q99.8 {source="Orphanet:96092", source="Orphanet:96092/attributed", source="Orphanet:96092/ntbt"} xref: Orphanet:96092 {source="MONDO:equivalentTo"} xref: SCTID:718188007 {source="MONDO:equivalentTo"} xref: UMLS:CN206812 {source="MONDO:equivalentTo"} @@ -381248,11 +381085,11 @@ synonym: "distal duplication 10q" EXACT [Orphanet:96102] synonym: "distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:96102] synonym: "telomeric duplication 10q" EXACT [Orphanet:96102] synonym: "trisomy 10qter" EXACT [Orphanet:96102] -xref: MESH:C538087 {source="Orphanet:96102", source="MONDO:equivalentTo", source="ORDO:96102/e"} +xref: MESH:C538087 {source="Orphanet:96102", source="MONDO:equivalentTo", source="Orphanet:96102/e"} xref: Orphanet:96102 {source="MONDO:equivalentTo"} xref: SCTID:718689000 {source="MONDO:equivalentTo"} -xref: UMLS:C2931728 {source="Orphanet:96102", source="MONDO:notFoundInDiseaseSubset", source="ORDO:96102/e"} -xref: UMLS:C2931731 {source="Orphanet:96102", source="MONDO:notFoundInDiseaseSubset", source="ORDO:96102/e"} +xref: UMLS:C2931728 {source="Orphanet:96102", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96102/e"} +xref: UMLS:C2931731 {source="Orphanet:96102", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96102/e"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0016961 {source="Orphanet:96102"} ! partial duplication of the long arm of chromosome 10 relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human) @@ -381268,10 +381105,10 @@ synonym: "distal duplication 11q" EXACT [Orphanet:96103] synonym: "distal trisomy type 11q" EXACT [MONDORULE:4, Orphanet:96103] synonym: "telomeric duplication 11q" EXACT [Orphanet:96103] synonym: "trisomy 11qter" EXACT [Orphanet:96103] -xref: MESH:C538294 {source="ORDO:96103/e", source="Orphanet:96103", source="MONDO:equivalentTo"} +xref: MESH:C538294 {source="Orphanet:96103", source="MONDO:equivalentTo", source="Orphanet:96103/e"} xref: Orphanet:96103 {source="MONDO:equivalentTo"} xref: SCTID:764447009 {source="MONDO:equivalentTo"} -xref: UMLS:C2931797 {source="ORDO:96103/e", source="Orphanet:96103", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C2931797 {source="Orphanet:96103", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96103/e"} is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication is_a: MONDO:0022173 {source="MONDOLEX:0019885", source="Orphanet:96103"} ! chromosome 11q trisomy relationship: disease_arises_from_structure CHR:9606-chr11q {source="https://orcid.org/0000-0002-4142-7153"} ! 11q (Human) @@ -381364,7 +381201,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96123"} synonym: "Del(22)" EXACT [Orphanet:96123] synonym: "deletion 22" EXACT [Orphanet:96123] synonym: "monosomy type 22" EXACT [MONDORULE:2, Orphanet:96123] -xref: ICD10CM:Q93.0 {source="Orphanet:96123", source="ORDO:96123/attributed", source="ORDO:96123/ntbt"} +xref: ICD10CM:Q93.0 {source="Orphanet:96123", source="Orphanet:96123/attributed", source="Orphanet:96123/ntbt"} xref: NCIT:C36461 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: Orphanet:96123 {source="MONDO:equivalentTo"} xref: UMLS:C0795878 {source="MONDO:equivalentTo"} @@ -381379,7 +381216,7 @@ synonym: "distal deletion 7p" EXACT [Orphanet:96126] synonym: "distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96126] synonym: "monosomy 7pter" EXACT [Orphanet:96126] synonym: "telomeric deletion 7p" EXACT [Orphanet:96126] -xref: ICD10CM:Q93.5 {source="Orphanet:96126", source="ORDO:96126/attributed", source="ORDO:96126/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96126/attributed", source="Orphanet:96126/ntbt", source="Orphanet:96126"} xref: Orphanet:96126 {source="MONDO:equivalentTo"} is_a: MONDO:0016889 {source="Orphanet:96126"} ! partial deletion of the short arm of chromosome 7 relationship: disease_arises_from_structure CHR:9606-chr7p {source="https://orcid.org/0000-0002-4142-7153"} ! 7p (Human) @@ -381393,7 +381230,7 @@ def: "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wi subset: ordo_malformation_syndrome {source="Orphanet:96129"} synonym: "distal deletion 19p" EXACT [Orphanet:96129] synonym: "telomeric deletion 19p" EXACT [Orphanet:96129] -xref: ICD10CM:Q93.5 {source="ORDO:96129/attributed", source="ORDO:96129/ntbt", source="Orphanet:96129"} +xref: ICD10CM:Q93.5 {source="Orphanet:96129", source="Orphanet:96129/attributed", source="Orphanet:96129/ntbt"} xref: Orphanet:96129 {source="MONDO:equivalentTo"} is_a: MONDO:0016897 {source="Orphanet:96129"} ! partial deletion of the short arm of chromosome 19 relationship: disease_arises_from_structure CHR:9606-chr19p13.3 {source="https://orcid.org/0000-0002-4142-7153"} ! 19p13.3 (Human) @@ -381407,7 +381244,7 @@ comment: Obsolete in Orphanet synonym: "non-distal deletion 7p" EXACT [Orphanet:96136] synonym: "non-distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96136] synonym: "non-telomeric monosomy 7p" EXACT [Orphanet:96136] -xref: ICD10CM:Q93.5 {source="Orphanet:96136", source="ORDO:96136/attributed", source="ORDO:96136/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96136", source="Orphanet:96136/attributed", source="Orphanet:96136/ntbt"} xref: Orphanet:96136 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0016889 @@ -381420,7 +381257,7 @@ synonym: "distal deletion 4q" EXACT [Orphanet:96145] synonym: "distal monosomy type 4q" EXACT [MONDORULE:4, Orphanet:96145] synonym: "monosomy 4qter" EXACT [Orphanet:96145] synonym: "telomeric deletion 4q" EXACT [Orphanet:96145] -xref: ICD10CM:Q93.5 {source="Orphanet:96145", source="ORDO:96145/attributed", source="ORDO:96145/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96145", source="Orphanet:96145/attributed", source="Orphanet:96145/ntbt"} xref: Orphanet:96145 {source="MONDO:equivalentTo"} is_a: MONDO:0016903 {source="Orphanet:96145"} ! partial deletion of the long arm of chromosome 4 relationship: disease_arises_from_structure CHR:9606-chr4q {source="https://orcid.org/0000-0002-4142-7153"} ! 4q (Human) @@ -381436,7 +381273,7 @@ synonym: "9qSTDS" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to 9q subtelomeric deletion" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to del(9)(q34)" EXACT [Orphanet:96147] synonym: "Kleefstra syndrome due to monosomy 9q34" EXACT [Orphanet:96147] -xref: ICD10CM:Q87.8 {source="Orphanet:96147", source="ORDO:96147/attributed", source="ORDO:96147/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:96147", source="Orphanet:96147/attributed", source="Orphanet:96147/ntbt"} xref: Orphanet:96147 {source="MONDO:equivalentTo"} xref: UMLS:C0795833 {source="MONDO:subClassOf", source="Orphanet:96147"} xref: UMLS:CN206831 {source="MONDO:equivalentTo"} @@ -381457,7 +381294,7 @@ synonym: "distal deletion 12q" EXACT [Orphanet:96149] synonym: "distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96149] synonym: "monosomy 12qter" EXACT [Orphanet:96149] synonym: "telomeric deletion 12q" EXACT [Orphanet:96149] -xref: ICD10CM:Q93.5 {source="Orphanet:96149", source="ORDO:96149/attributed", source="ORDO:96149/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96149/attributed", source="Orphanet:96149/ntbt", source="Orphanet:96149"} xref: Orphanet:96149 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:96149"} ! partial deletion of the long arm of chromosome 12 relationship: disease_arises_from_structure CHR:9606-chr12q {source="https://orcid.org/0000-0002-4142-7153"} ! 12q (Human) @@ -381472,7 +381309,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96150"} synonym: "distal deletion 14q" EXACT [Orphanet:96150] synonym: "distal monosomy type 14q" EXACT [MONDORULE:4, Orphanet:96150] synonym: "telomeric deletion 14q" EXACT [Orphanet:96150] -xref: ICD10CM:Q93.5 {source="ORDO:96150/attributed", source="ORDO:96150/ntbt", source="Orphanet:96150"} +xref: ICD10CM:Q93.5 {source="Orphanet:96150", source="Orphanet:96150/attributed", source="Orphanet:96150/ntbt"} xref: Orphanet:96150 {source="MONDO:equivalentTo"} is_a: MONDO:0016912 {source="Orphanet:96150"} ! partial deletion of the long arm of chromosome 14 relationship: disease_arises_from_structure CHR:9606-chr14q {source="https://orcid.org/0000-0002-4142-7153"} ! 14q (Human) @@ -381487,7 +381324,7 @@ synonym: "distal deletion 20q" EXACT [Orphanet:96152] synonym: "distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96152] synonym: "monosomy 20qter" EXACT [Orphanet:96152] synonym: "telomeric deletion 20q" EXACT [Orphanet:96152] -xref: ICD10CM:Q93.5 {source="ORDO:96152/attributed", source="ORDO:96152/ntbt", source="Orphanet:96152"} +xref: ICD10CM:Q93.5 {source="Orphanet:96152/attributed", source="Orphanet:96152/ntbt", source="Orphanet:96152"} xref: Orphanet:96152 {source="MONDO:equivalentTo"} is_a: MONDO:0016918 {source="Orphanet:96152"} ! partial deletion of the long arm of chromosome 20 relationship: disease_arises_from_structure CHR:9606-chr20q {source="https://orcid.org/0000-0002-4142-7153"} ! 20q (Human) @@ -381501,7 +381338,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96160"} synonym: "non-distal deletion 12q" EXACT [Orphanet:96160] synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96160] synonym: "non-telomeric monosomy 12q" EXACT [Orphanet:96160] -xref: ICD10CM:Q93.5 {source="ORDO:96160/attributed", source="ORDO:96160/ntbt", source="Orphanet:96160"} +xref: ICD10CM:Q93.5 {source="Orphanet:96160/attributed", source="Orphanet:96160/ntbt", source="Orphanet:96160"} xref: Orphanet:96160 {source="MONDO:equivalentTo"} is_a: MONDO:0016877 {source="Orphanet:96160"} ! partial deletion of the long arm of chromosome 12 relationship: disease_arises_from_structure CHR:9606-chr12q {source="https://orcid.org/0000-0002-4142-7153"} ! 12q (Human) @@ -381515,7 +381352,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96164"} synonym: "non-distal deletion 20q" EXACT [Orphanet:96164] synonym: "non-distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96164] synonym: "non-telomeric monosomy 20q" EXACT [Orphanet:96164] -xref: ICD10CM:Q93.5 {source="ORDO:96164/attributed", source="ORDO:96164/ntbt", source="Orphanet:96164"} +xref: ICD10CM:Q93.5 {source="Orphanet:96164/attributed", source="Orphanet:96164/ntbt", source="Orphanet:96164"} xref: Orphanet:96164 {source="MONDO:equivalentTo"} is_a: MONDO:0016918 {source="Orphanet:96164"} ! partial deletion of the long arm of chromosome 20 relationship: disease_arises_from_structure CHR:9606-chr20q {source="https://orcid.org/0000-0002-4142-7153"} ! 20q (Human) @@ -381531,7 +381368,7 @@ synonym: "Del(13)(q34)" EXACT [Orphanet:96168] synonym: "distal deletion 13q34" EXACT [Orphanet:96168] synonym: "monosomy type 13q34" EXACT [MONDORULE:7, Orphanet:96168] synonym: "subtelomeric deletion 13q34" EXACT [Orphanet:96168] -xref: ICD10CM:Q93.5 {source="Orphanet:96168", source="ORDO:96168/attributed", source="ORDO:96168/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:96168/attributed", source="Orphanet:96168/ntbt", source="Orphanet:96168"} xref: Orphanet:96168 {source="MONDO:equivalentTo"} xref: SCTID:766716004 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:96168"} ! syndromic anorectal malformation @@ -381554,7 +381391,7 @@ synonym: "Ring chromosome 2 syndrome" RELATED [Orphanet:96171] synonym: "Ring chromosome type 2" EXACT [MONDORULE:1, Orphanet:96171] synonym: "rose cluster 2" EXACT [NCIT:C121981] xref: GARD:0010837 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:96171/attributed", source="ORDO:96171/ntbt", source="Orphanet:96171"} +xref: ICD10CM:Q93.2 {source="Orphanet:96171/attributed", source="Orphanet:96171/ntbt", source="Orphanet:96171"} xref: NCIT:C121981 {source="MONDO:equivalentTo"} xref: Orphanet:96171 {source="MONDO:equivalentTo"} xref: SCTID:765485000 {source="MONDO:equivalentTo"} @@ -381576,7 +381413,7 @@ synonym: "Ring chromosome 3 syndrome" RELATED [Orphanet:96172] synonym: "Ring chromosome type 3" EXACT [MONDORULE:1, Orphanet:96172] synonym: "rose cluster 3" EXACT [NCIT:C121982] xref: GARD:0010839 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:96172/attributed", source="ORDO:96172/ntbt", source="Orphanet:96172"} +xref: ICD10CM:Q93.2 {source="Orphanet:96172", source="Orphanet:96172/attributed", source="Orphanet:96172/ntbt"} xref: NCIT:C121982 {source="MONDO:equivalentTo"} xref: Orphanet:96172 {source="MONDO:equivalentTo"} xref: SCTID:765486004 {source="MONDO:equivalentTo"} @@ -381597,12 +381434,12 @@ synonym: "Ring 9" EXACT [GARD:0001348, Orphanet:96173] synonym: "Ring chromosome 9 syndrome" RELATED [Orphanet:96173] synonym: "Ring chromosome type 9" EXACT [MONDORULE:1, Orphanet:96173] xref: GARD:0001348 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:96173/attributed", source="ORDO:96173/ntbt", source="Orphanet:96173"} -xref: MESH:C538022 {source="MONDO:equivalentTo", source="ORDO:96173/e", source="Orphanet:96173"} +xref: ICD10CM:Q93.2 {source="Orphanet:96173/attributed", source="Orphanet:96173/ntbt", source="Orphanet:96173"} +xref: MESH:C538022 {source="Orphanet:96173/e", source="MONDO:equivalentTo", source="Orphanet:96173"} xref: Orphanet:96173 {source="MONDO:equivalentTo"} xref: SCTID:60650002 {source="MONDO:equivalentTo"} -xref: UMLS:C0265430 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:96173/e", source="Orphanet:96173"} -xref: UMLS:C2931693 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:96173/e", source="Orphanet:96173"} +xref: UMLS:C0265430 {source="Orphanet:96173/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96173"} +xref: UMLS:C2931693 {source="Orphanet:96173/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96173"} xref: UMLS:CN036105 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human) @@ -381623,11 +381460,11 @@ synonym: "Ring chromosome 11 syndrome" RELATED [Orphanet:96175] synonym: "Ring chromosome type 11" EXACT [MONDORULE:2, Orphanet:96175] xref: EFO:0002849 {source="MONDO:equivalentTo"} xref: GARD:0010846 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:96175/attributed", source="ORDO:96175/ntbt", source="Orphanet:96175"} +xref: ICD10CM:Q93.2 {source="Orphanet:96175/attributed", source="Orphanet:96175/ntbt", source="Orphanet:96175"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:96175 {source="MONDO:equivalentTo"} xref: SCTID:111310003 {source="MONDO:equivalentTo"} -xref: UMLS:C0265444 {source="MONDO:equivalentTo", source="ORDO:96175/e", source="Orphanet:96175"} +xref: UMLS:C0265444 {source="Orphanet:96175/e", source="MONDO:equivalentTo", source="Orphanet:96175"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr11 ! chromosome 11 (Human) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 xsd:anyURI {source="GARD:0010846"} @@ -381644,11 +381481,11 @@ synonym: "Ring 13" RELATED [GARD:0006069] synonym: "Ring chromosome 13 syndrome" RELATED [Orphanet:96176] synonym: "Ring chromosome type 13" EXACT [MONDORULE:2, Orphanet:96176] xref: GARD:0006069 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="ORDO:96176/attributed", source="ORDO:96176/ntbt", source="Orphanet:96176"} -xref: MESH:C538303 {source="MONDO:equivalentTo", source="ORDO:96176/e", source="Orphanet:96176"} +xref: ICD10CM:Q93.2 {source="Orphanet:96176/attributed", source="Orphanet:96176/ntbt", source="Orphanet:96176"} +xref: MESH:C538303 {source="Orphanet:96176/e", source="MONDO:equivalentTo", source="Orphanet:96176"} xref: Orphanet:96176 {source="MONDO:equivalentTo"} xref: SCTID:726723004 {source="MONDO:equivalentTo"} -xref: UMLS:C2931808 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:96176/e", source="Orphanet:96176"} +xref: UMLS:C2931808 {source="Orphanet:96176/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96176"} is_a: MONDO:0015246 {source="Orphanet:96176"} ! syndromic anorectal malformation intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr13 ! chromosome 13 (Human) @@ -381666,11 +381503,11 @@ synonym: "Ring 15" RELATED [GARD:0001328] synonym: "Ring chromosome 15 syndrome" RELATED [Orphanet:96177] synonym: "Ring chromosome type 15" EXACT [MONDORULE:2, Orphanet:96177] xref: GARD:0001328 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:96177", source="ORDO:96177/attributed", source="ORDO:96177/ntbt"} -xref: MESH:C538035 {source="Orphanet:96177", source="MONDO:equivalentTo", source="ORDO:96177/e"} +xref: ICD10CM:Q93.2 {source="Orphanet:96177", source="Orphanet:96177/attributed", source="Orphanet:96177/ntbt"} +xref: MESH:C538035 {source="Orphanet:96177", source="MONDO:equivalentTo", source="Orphanet:96177/e"} xref: Orphanet:96177 {source="MONDO:equivalentTo"} xref: SCTID:763405000 {source="MONDO:equivalentTo"} -xref: UMLS:C2931703 {source="Orphanet:96177", source="MONDO:notFoundInDiseaseSubset", source="ORDO:96177/e"} +xref: UMLS:C2931703 {source="Orphanet:96177", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:96177/e"} xref: UMLS:CN035931 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder intersection_of: disease_arises_from_structure CHR:9606-chr15 ! chromosome 15 (Human) @@ -381688,7 +381525,7 @@ synonym: "Ring 16" RELATED [GARD:0010855] synonym: "Ring chromosome 16 syndrome" RELATED [Orphanet:96178] synonym: "Ring chromosome type 16" EXACT [MONDORULE:2, Orphanet:96178] xref: GARD:0010855 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.2 {source="Orphanet:96178", source="ORDO:96178/attributed", source="ORDO:96178/ntbt"} +xref: ICD10CM:Q93.2 {source="Orphanet:96178", source="Orphanet:96178/attributed", source="Orphanet:96178/ntbt"} xref: Orphanet:96178 {source="MONDO:equivalentTo"} xref: SCTID:763406004 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder @@ -381702,7 +381539,7 @@ def: "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of ma subset: ordo_malformation_syndrome {source="Orphanet:96179"} synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, Orphanet:96179] synonym: "UPD(2)mat" EXACT [Orphanet:96179] -xref: ICD10CM:Q99.8 {source="Orphanet:96179", source="ORDO:96179/attributed", source="ORDO:96179/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:96179/attributed", source="Orphanet:96179/ntbt", source="Orphanet:96179"} xref: Orphanet:96179 {source="MONDO:equivalentTo"} xref: SCTID:766237006 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381715,7 +381552,7 @@ def: "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of ma subset: ordo_malformation_syndrome {source="Orphanet:96180"} synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, Orphanet:96180] synonym: "UPD(4)mat" EXACT [Orphanet:96180] -xref: ICD10CM:Q99.8 {source="ORDO:96180/attributed", source="ORDO:96180/ntbt", source="Orphanet:96180"} +xref: ICD10CM:Q99.8 {source="Orphanet:96180", source="Orphanet:96180/attributed", source="Orphanet:96180/ntbt"} xref: Orphanet:96180 {source="MONDO:equivalentTo"} xref: SCTID:766238001 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381728,7 +381565,7 @@ def: "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of ma subset: ordo_malformation_syndrome {source="Orphanet:96181"} synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96181] synonym: "UPD(6)mat" EXACT [Orphanet:96181] -xref: ICD10CM:Q99.8 {source="ORDO:96181/attributed", source="ORDO:96181/ntbt", source="Orphanet:96181"} +xref: ICD10CM:Q99.8 {source="Orphanet:96181", source="Orphanet:96181/attributed", source="Orphanet:96181/ntbt"} xref: Orphanet:96181 {source="MONDO:equivalentTo"} xref: SCTID:766239009 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381741,7 +381578,7 @@ def: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 subset: ordo_etiological_subtype {source="Orphanet:96182"} synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96182] synonym: "UPD(7)mat" EXACT [Orphanet:96182] -xref: ICD10CM:Q87.1 {source="ORDO:96182/attributed", source="ORDO:96182/ntbt", source="Orphanet:96182"} +xref: ICD10CM:Q87.1 {source="Orphanet:96182/attributed", source="Orphanet:96182/ntbt", source="Orphanet:96182"} xref: Orphanet:96182 {source="MONDO:equivalentTo"} xref: UMLS:CN206841 {source="MONDO:equivalentTo"} is_a: MONDO:0008394 {source="Orphanet:96182"} ! Silver-Russell syndrome @@ -381755,7 +381592,7 @@ def: "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of ma subset: ordo_malformation_syndrome {source="Orphanet:96183"} synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:96183] synonym: "UPD(9)mat" EXACT [Orphanet:96183] -xref: ICD10CM:Q99.8 {source="ORDO:96183/attributed", source="ORDO:96183/ntbt", source="Orphanet:96183"} +xref: ICD10CM:Q99.8 {source="Orphanet:96183", source="Orphanet:96183/attributed", source="Orphanet:96183/ntbt"} xref: Orphanet:96183 {source="MONDO:equivalentTo"} xref: SCTID:766240006 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381768,7 +381605,7 @@ def: "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly subset: ordo_etiological_subtype {source="Orphanet:96184"} synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96184] synonym: "UPD(14)mat" EXACT [Orphanet:96184] -xref: ICD10CM:Q99.8 {source="ORDO:96184/attributed", source="ORDO:96184/ntbt", source="Orphanet:96184"} +xref: ICD10CM:Q99.8 {source="Orphanet:96184/attributed", source="Orphanet:96184/ntbt", source="Orphanet:96184"} xref: Orphanet:96184 {source="MONDO:equivalentTo"} is_a: MONDO:0014541 {source="Orphanet:96184"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381780,7 +381617,7 @@ name: maternal uniparental disomy of chromosome 16 subset: ordo_malformation_syndrome {source="Orphanet:96185"} synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, Orphanet:96185] synonym: "UPD(16)mat" EXACT [Orphanet:96185] -xref: ICD10CM:Q99.8 {source="ORDO:96185/attributed", source="ORDO:96185/ntbt", source="Orphanet:96185"} +xref: ICD10CM:Q99.8 {source="Orphanet:96185/attributed", source="Orphanet:96185/ntbt", source="Orphanet:96185"} xref: Orphanet:96185 {source="MONDO:equivalentTo"} is_a: MONDO:0015246 {source="Orphanet:96185"} ! syndromic anorectal malformation is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381798,7 +381635,7 @@ synonym: "MULCHANDANI-BHOJ-CONLIN syndrome" RELATED [OMIM:617352] synonym: "uniparental disomy, maternal, chromosome 20" RELATED [OMIM:617352] synonym: "UPD(20)mat" EXACT [Orphanet:96186] xref: DOID:0111714 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q99.8 {source="ORDO:96186/attributed", source="ORDO:96186/ntbt", source="Orphanet:96186"} +xref: ICD10CM:Q99.8 {source="Orphanet:96186/attributed", source="Orphanet:96186/ntbt", source="Orphanet:96186"} xref: OMIM:617352 {source="MONDO:equivalentTo", source="Orphanet:96186"} xref: Orphanet:96186 {source="MONDO:equivalentTo", source="OMIM:617352"} xref: SCTID:715735007 {source="MONDO:equivalentTo"} @@ -381812,7 +381649,7 @@ name: maternal uniparental disomy of chromosome 21 subset: ordo_malformation_syndrome {source="Orphanet:96187"} synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96187] synonym: "UPD(21)mat" EXACT [Orphanet:96187] -xref: ICD10CM:Q99.8 {source="ORDO:96187/attributed", source="ORDO:96187/ntbt", source="Orphanet:96187"} +xref: ICD10CM:Q99.8 {source="Orphanet:96187/attributed", source="Orphanet:96187/ntbt", source="Orphanet:96187"} xref: Orphanet:96187 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 (Human) @@ -381823,7 +381660,7 @@ name: maternal uniparental disomy of chromosome 22 subset: ordo_malformation_syndrome {source="Orphanet:96188"} synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, Orphanet:96188] synonym: "UPD(22)mat" EXACT [Orphanet:96188] -xref: ICD10CM:Q99.8 {source="Orphanet:96188", source="ORDO:96188/attributed", source="ORDO:96188/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:96188", source="Orphanet:96188/attributed", source="Orphanet:96188/ntbt"} xref: Orphanet:96188 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr22 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 22 (Human) @@ -381835,7 +381672,7 @@ def: "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of pa subset: ordo_malformation_syndrome {source="Orphanet:96190"} synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:96190] synonym: "UPD(5)pat" EXACT [Orphanet:96190] -xref: ICD10CM:Q99.8 {source="ORDO:96190/attributed", source="ORDO:96190/ntbt", source="Orphanet:96190"} +xref: ICD10CM:Q99.8 {source="Orphanet:96190", source="Orphanet:96190/attributed", source="Orphanet:96190/ntbt"} xref: Orphanet:96190 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr5 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 5 (Human) @@ -381847,7 +381684,7 @@ def: "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of pa subset: ordo_malformation_syndrome {source="Orphanet:96191"} synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96191] synonym: "UPD(6)pat" EXACT [Orphanet:96191] -xref: ICD10CM:Q99.8 {source="ORDO:96191/attributed", source="ORDO:96191/ntbt", source="Orphanet:96191"} +xref: ICD10CM:Q99.8 {source="Orphanet:96191", source="Orphanet:96191/attributed", source="Orphanet:96191/ntbt"} xref: Orphanet:96191 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr6 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 6 (Human) @@ -381859,7 +381696,7 @@ def: "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of pa subset: ordo_malformation_syndrome {source="Orphanet:96192"} synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96192] synonym: "UPD(7)pat" EXACT [Orphanet:96192] -xref: ICD10CM:Q99.8 {source="ORDO:96192/attributed", source="ORDO:96192/ntbt", source="Orphanet:96192"} +xref: ICD10CM:Q99.8 {source="Orphanet:96192", source="Orphanet:96192/attributed", source="Orphanet:96192/ntbt"} xref: Orphanet:96192 {source="MONDO:equivalentTo"} xref: SCTID:766721001 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381872,7 +381709,7 @@ subset: ordo_etiological_subtype {source="Orphanet:96193"} synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:96193] synonym: "Mosaic paternal uniparental disomy of chromosome 11" EXACT [Orphanet:96193] synonym: "UPD(11)pat" EXACT [Orphanet:96193] -xref: ICD10CM:Q87.3 {source="ORDO:96193/attributed", source="ORDO:96193/ntbt", source="Orphanet:96193"} +xref: ICD10CM:Q87.3 {source="Orphanet:96193/attributed", source="Orphanet:96193/ntbt", source="Orphanet:96193"} xref: Orphanet:96193 {source="MONDO:equivalentTo"} xref: UMLS:CN206842 {source="MONDO:equivalentTo"} is_a: MONDO:0007534 {source="Orphanet:96193"} ! Beckwith-Wiedemann syndrome @@ -381888,7 +381725,7 @@ synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, synonym: "paternal UPD(20)" EXACT [Orphanet:96194] synonym: "paternal UPD20" EXACT [Orphanet:96194] synonym: "UPD(20)pat" EXACT [Orphanet:96194] -xref: ICD10CM:Q99.8 {source="ORDO:96194/attributed", source="ORDO:96194/ntbt", source="Orphanet:96194"} +xref: ICD10CM:Q99.8 {source="Orphanet:96194", source="Orphanet:96194/attributed", source="Orphanet:96194/ntbt"} xref: Orphanet:96194 {source="MONDO:equivalentTo"} xref: SCTID:715736008 {source="MONDO:equivalentTo"} xref: UMLS:C4275028 {source="MONDO:equivalentTo"} @@ -381902,7 +381739,7 @@ def: "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of p subset: ordo_malformation_syndrome {source="Orphanet:96195"} synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96195] synonym: "UPD(21)pat" EXACT [Orphanet:96195] -xref: ICD10CM:Q99.8 {source="ORDO:96195/attributed", source="ORDO:96195/ntbt", source="Orphanet:96195"} +xref: ICD10CM:Q99.8 {source="Orphanet:96195/attributed", source="Orphanet:96195/ntbt", source="Orphanet:96195"} xref: Orphanet:96195 {source="MONDO:equivalentTo"} xref: SCTID:766720000 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -381913,7 +381750,7 @@ id: MONDO:0019926 name: X small rings def: "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." [Orphanet:96201] subset: ordo_malformation_syndrome {source="Orphanet:96201"} -xref: ICD10CM:Q99.8 {source="Orphanet:96201", source="ORDO:96201/attributed", source="ORDO:96201/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:96201/attributed", source="Orphanet:96201/ntbt", source="Orphanet:96201"} xref: Orphanet:96201 {source="MONDO:equivalentTo"} xref: SCTID:766760004 {source="MONDO:equivalentTo"} is_a: MONDO:0019852 {source="Orphanet:96201"} ! inherited primary ovarian failure @@ -381978,13 +381815,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:96263"} synonym: "48, XXXY syndrome" EXACT [NCIT:C89799] synonym: "XXXY syndrome" RELATED [GARD:0005676] xref: GARD:0005676 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q98.1 {source="ORDO:96263/attributed", source="ORDO:96263/ntbt", source="Orphanet:96263"} +xref: ICD10CM:Q98.1 {source="Orphanet:96263/attributed", source="Orphanet:96263/ntbt", source="Orphanet:96263"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10048228 {source="ORDO:96263/e", source="Orphanet:96263"} +xref: MedDRA:10048228 {source="Orphanet:96263/e", source="Orphanet:96263"} xref: NCIT:C89799 {source="MONDO:equivalentTo"} xref: Orphanet:96263 {source="MONDO:equivalentTo"} xref: SCTID:78317008 {source="MONDO:equivalentTo"} -xref: UMLS:C0265498 {source="MONDO:equivalentTo", source="ORDO:96263/e", source="NCIT:C89799", source="Orphanet:96263"} +xref: UMLS:C0265498 {source="Orphanet:96263/e", source="MONDO:equivalentTo", source="NCIT:C89799", source="Orphanet:96263"} is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C89799", source="indirect"} ! syndromic disease is_a: MONDO:0005372 ! male infertility @@ -382004,7 +381841,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96264"} synonym: "49,XXXXY" RELATED [GARD:0005679] synonym: "XXXXY syndrome" RELATED [GARD:0005679] xref: GARD:0005679 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q98.1 {source="ORDO:96264/attributed", source="ORDO:96264/ntbt", source="Orphanet:96264"} +xref: ICD10CM:Q98.1 {source="Orphanet:96264/attributed", source="Orphanet:96264/ntbt", source="Orphanet:96264"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D007713 {source="MONDO:relatedTo"} xref: Orphanet:96264 {source="MONDO:equivalentTo"} @@ -382034,8 +381871,8 @@ synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [Orpha synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [Orphanet:96265] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] -xref: ICD10CM:Q56.1 {source="Orphanet:96265", source="ORDO:96265/attributed", source="ORDO:96265/ntbt"} -xref: OMIM:238320 {source="MONDO:subClassOf", source="Orphanet:96265", source="ORDO:96265/ntbt"} +xref: ICD10CM:Q56.1 {source="Orphanet:96265", source="Orphanet:96265/attributed", source="Orphanet:96265/ntbt"} +xref: OMIM:238320 {source="MONDO:subClassOf", source="Orphanet:96265", source="Orphanet:96265/ntbt"} xref: Orphanet:96265 {source="MONDO:equivalentTo"} xref: UMLS:CN206847 {source="MONDO:equivalentTo"} is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1 @@ -382054,8 +381891,8 @@ synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [Orphan synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [Orphanet:96266] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [Orphanet:96266] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] -xref: ICD10CM:Q56.1 {source="Orphanet:96266", source="ORDO:96266/attributed", source="ORDO:96266/ntbt"} -xref: OMIM:238320 {source="MONDO:subClassOf", source="Orphanet:96266", source="ORDO:96266/ntbt"} +xref: ICD10CM:Q56.1 {source="Orphanet:96266", source="Orphanet:96266/attributed", source="Orphanet:96266/ntbt"} +xref: OMIM:238320 {source="MONDO:subClassOf", source="Orphanet:96266", source="Orphanet:96266/ntbt"} xref: Orphanet:96266 {source="MONDO:equivalentTo"} xref: UMLS:CN206848 {source="MONDO:equivalentTo"} is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1 @@ -382067,7 +381904,7 @@ name: isolated partial vaginal agenesis def: "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." [Orphanet:96269] subset: ordo_morphological_anomaly {source="Orphanet:96269"} synonym: "congenital absence of vagina" EXACT [Orphanet:96269] -xref: ICD10CM:Q52.0 {source="Orphanet:96269", source="ORDO:96269/ntbt"} +xref: ICD10CM:Q52.0 {source="Orphanet:96269/ntbt", source="Orphanet:96269"} xref: Orphanet:96269 {source="MONDO:equivalentTo"} xref: SCTID:87380008 {source="MONDO:equivalentTo"} is_a: MONDO:0002263 {source="MONDO:0015847-obsoleted"} ! female reproductive system disorder @@ -382086,17 +381923,17 @@ synonym: "somatotroph adenoma" RELATED [GARD:0005725] xref: DOID:2449 {source="MONDO:equivalentTo"} xref: EFO:1001485 {source="MONDO:equivalentTo"} xref: GARD:0005725 {source="MONDO:equivalentTo"} -xref: ICD10CM:E22.0 {source="Orphanet:963", source="ORDO:963/e"} -xref: MedDRA:10000599 {source="Orphanet:963", source="ORDO:963/e"} -xref: MESH:D000172 {source="Orphanet:963", source="MONDO:equivalentTo", source="DOID:2449", source="ORDO:963/e"} +xref: ICD10CM:E22.0 {source="Orphanet:963", source="Orphanet:963/e"} +xref: MedDRA:10000599 {source="Orphanet:963", source="Orphanet:963/e"} +xref: MESH:D000172 {source="Orphanet:963", source="MONDO:equivalentTo", source="Orphanet:963/e", source="DOID:2449"} xref: NCIT:C84533 {source="MONDO:equivalentTo", source="DOID:2449"} -xref: OMIM:102200 {source="MONDO:subClassOf", source="Orphanet:963", source="ORDO:963/ntbt"} -xref: OMIM:300943 {source="Orphanet:963", source="MONDO:superClassOf", source="ORDO:963/btnt"} +xref: OMIM:102200 {source="MONDO:subClassOf", source="Orphanet:963/ntbt", source="Orphanet:963"} +xref: OMIM:300943 {source="Orphanet:963/btnt", source="Orphanet:963", source="MONDO:superClassOf"} xref: Orphanet:963 {source="MONDO:equivalentTo"} xref: SCTID:154698000 {source="DOID:2449"} xref: SCTID:267480001 {source="DOID:2449"} xref: SCTID:74107003 {source="MONDO:equivalentTo", source="DOID:2449"} -xref: UMLS:C0001206 {source="Orphanet:963", source="MONDO:equivalentTo", source="DOID:2449", source="NCIT:C84533", source="ORDO:963/e"} +xref: UMLS:C0001206 {source="Orphanet:963", source="MONDO:equivalentTo", source="Orphanet:963/e", source="DOID:2449", source="NCIT:C84533"} is_a: MONDO:0006793 {source="DOID:2449", source="MESH:D000172", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpituitarism is_a: MONDO:0021124 {source="MONDO:0018397-obsoleted"} ! female infertility relationship: excluded_subClassOf MONDO:0007052 ! growth hormone secreting pituitary adenoma 1 @@ -382109,11 +381946,11 @@ name: polyploidy def: "The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96321"} -xref: ICD10CM:Q92.7 {source="Orphanet:96321", source="ORDO:96321/specific", source="ORDO:96321/e"} -xref: MESH:D011123 {source="Orphanet:96321", source="MONDO:equivalentTo", source="ORDO:96321/e"} +xref: ICD10CM:Q92.7 {source="Orphanet:96321", source="Orphanet:96321/e", source="Orphanet:96321/specific"} +xref: MESH:D011123 {source="Orphanet:96321", source="MONDO:equivalentTo", source="Orphanet:96321/e"} xref: Orphanet:96321 {source="MONDO:equivalentTo"} xref: SCTID:72991005 {source="MONDO:equivalentTo"} -xref: UMLS:C0032578 {source="Orphanet:96321", source="MONDO:notFoundInDiseaseSubset", source="ORDO:96321/e"} +xref: UMLS:C0032578 {source="Orphanet:96321", source="Orphanet:96321/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019040 {source="Orphanet:96321", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal disorder intersection_of: MONDO:0019040 ! chromosomal disorder intersection_of: has_modifier SO:0001254 ! polyploid @@ -382124,7 +381961,7 @@ name: isochromosome Y subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96325"} synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325] -xref: ICD10CM:Q98.6 {source="Orphanet:96325", source="ORDO:96325/attributed", source="ORDO:96325/ntbt"} +xref: ICD10CM:Q98.6 {source="Orphanet:96325/attributed", source="Orphanet:96325/ntbt", source="Orphanet:96325"} xref: Orphanet:96325 {source="MONDO:equivalentTo"} is_a: MONDO:0700028 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y disorder @@ -382160,7 +381997,7 @@ name: anorectal malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96346"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537771 {source="ORDO:96346/e", source="Orphanet:96346", source="MONDO:equivalentTo"} +xref: MESH:C537771 {source="Orphanet:96346", source="MONDO:equivalentTo", source="Orphanet:96346/e"} xref: Orphanet:96346 {source="MONDO:equivalentTo"} xref: SCTID:33225004 {source="MONDO:equivalentTo"} xref: UMLS:C3495676 {source="Orphanet:96346", source="MONDO:notFoundInDiseaseSubset"} @@ -382172,7 +382009,7 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015960"} ! rare id: MONDO:0019939 name: early-onset schizophrenia subset: ordo_disease {source="Orphanet:96369"} -xref: ICD10CM:F20.8 {source="Orphanet:96369", source="ORDO:96369/ntbt"} +xref: ICD10CM:F20.8 {source="Orphanet:96369/ntbt", source="Orphanet:96369"} xref: Orphanet:96369 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder is_a: MONDO:0005090 {source="MONDO:cjm"} ! schizophrenia @@ -382189,7 +382026,7 @@ synonym: "haff" EXACT [Orphanet:966] synonym: "hypertrichosis-acromegaloid facial features syndrome" EXACT [Orphanet:966] synonym: "hypertrichosis-coarse face syndrome" EXACT [Orphanet:966] xref: GARD:0000502 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q87.0 {source="Orphanet:966", source="ORDO:966/attributed", source="ORDO:966/ntbt"} +xref: ICD10CM:Q87.0 {source="Orphanet:966/attributed", source="Orphanet:966/ntbt", source="Orphanet:966"} xref: Orphanet:966 {source="MONDO:equivalentTo"} xref: SCTID:721837000 {source="MONDO:equivalentTo"} xref: UMLS:CN226272 {source="MONDO:equivalentTo"} @@ -382215,11 +382052,11 @@ synonym: "neurogenic acroosteolysis" EXACT [Orphanet:970] xref: DOID:0070161 {source="MONDO:equivalentTo"} xref: GARD:0003976 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:3976 {source="DOID:0070161"} -xref: ICD10CM:G60.8 {source="ORDO:970/attributed", source="ORDO:970/ntbt", source="Orphanet:970"} -xref: OMIM:201300 {source="ORDO:970/btnt", source="MONDO:superClassOf", source="Orphanet:970"} -xref: OMIM:243000 {source="MONDO:subClassOf", source="ORDO:970/ntbt", source="Orphanet:970"} -xref: OMIM:613115 {source="ORDO:970/btnt", source="MONDO:superClassOf", source="Orphanet:970"} -xref: OMIM:614213 {source="ORDO:970/btnt", source="MONDO:superClassOf", source="Orphanet:970"} +xref: ICD10CM:G60.8 {source="Orphanet:970/attributed", source="Orphanet:970/ntbt", source="Orphanet:970"} +xref: OMIM:201300 {source="Orphanet:970/btnt", source="MONDO:superClassOf", source="Orphanet:970"} +xref: OMIM:243000 {source="MONDO:subClassOf", source="Orphanet:970/ntbt", source="Orphanet:970"} +xref: OMIM:613115 {source="Orphanet:970/btnt", source="MONDO:superClassOf", source="Orphanet:970"} +xref: OMIM:614213 {source="Orphanet:970/btnt", source="MONDO:superClassOf", source="Orphanet:970"} xref: Orphanet:970 {source="MONDO:equivalentTo", source="DOID:0070161"} xref: PMID:21089229 {source="DOID:0070161"} xref: SCTID:230555009 {source="DOID:0070161"} @@ -382228,7 +382065,7 @@ xref: SCTID:398148000 {source="MONDO:equivalentTo", source="DOID:0070161"} xref: SCTID:398187000 {source="DOID:0070161"} xref: SCTID:4021000 {source="DOID:0070161"} xref: UMLS:C0020072 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0070161", source="Orphanet:970"} -xref: UMLS:C0270914 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:970/e", source="DOID:0070161", source="Orphanet:970"} +xref: UMLS:C0270914 {source="Orphanet:970/e", source="MONDO:notFoundInDiseaseSubset", source="DOID:0070161", source="Orphanet:970"} is_a: MONDO:0015364 {source="DOID:0070161", source="Orphanet:970/inferred"} ! hereditary sensory and autonomic neuropathy property_value: confidence "0.7993530796457187" xsd:double @@ -382244,12 +382081,12 @@ synonym: "freeman-Sheldon syndrome" EXACT [DOID:0050646] synonym: "freeman-Sheldon syndrome variant" EXACT [DOID:0050646] xref: DOID:0050646 {source="MONDO:equivalentTo"} xref: GARD:0000786 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q68.8 {source="ORDO:97120/attributed", source="ORDO:97120/ntbt", source="Orphanet:97120"} +xref: ICD10CM:Q68.8 {source="Orphanet:97120/attributed", source="Orphanet:97120/ntbt", source="Orphanet:97120"} xref: OMIMPS:108120 {source="MONDO:equivalentTo"} xref: Orphanet:1147 {source="MONDO:superClassOf", source="DOID:0050646"} xref: Orphanet:97120 {source="MONDO:equivalentTo", source="GARD:0000786", source="DOID:0050646"} xref: SCTID:24269006 {source="MONDO:equivalentTo"} -xref: UMLS:C0265213 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97120/e", source="Orphanet:97120"} +xref: UMLS:C0265213 {source="Orphanet:97120/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97120"} is_a: MONDO:0003939 {source="DOID:0050646"} ! muscle tissue disorder is_a: MONDO:0015225 {source="Orphanet:97120"} ! arthrogryposis syndrome relationship: has_modifier MONDO:0021152 {source="OMIMPS:108120"} ! inherited @@ -382263,8 +382100,8 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:972"} synonym: "continuous muscle fiber activity hereditary" EXACT [MONDO:0022857] xref: GARD:0001512 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.1 {source="Orphanet:972", source="ORDO:972/attributed", source="ORDO:972/ntbt"} -xref: OMIM:160120 {source="MONDO:subClassOf", source="Orphanet:972", source="MONDO:relatedTo", source="ORDO:972/ntbt"} +xref: ICD10CM:G71.1 {source="Orphanet:972", source="Orphanet:972/attributed", source="Orphanet:972/ntbt"} +xref: OMIM:160120 {source="MONDO:subClassOf", source="Orphanet:972", source="MONDO:relatedTo", source="Orphanet:972/ntbt"} xref: Orphanet:972 {source="MONDO:equivalentTo"} xref: UMLS:C1834559 {source="Orphanet:972", source="MONDO:equivalentTo", source="GARD:0001512"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -382280,8 +382117,8 @@ subset: gard_rare {source="GARD:0006323"} subset: ordo_malformation_syndrome {source="Orphanet:97214"} synonym: "Eisenmenger's syndrome" EXACT [NCIT:C84390] xref: GARD:0006323 {source="MONDO:equivalentTo"} -xref: ICD10CM:I27.2 {source="Orphanet:97214", source="ORDO:97214/ntbt"} -xref: MedDRA:10058554 {source="ORDO:97214/e", source="Orphanet:97214"} +xref: ICD10CM:I27.2 {source="Orphanet:97214", source="Orphanet:97214/ntbt"} +xref: MedDRA:10058554 {source="Orphanet:97214", source="Orphanet:97214/e"} xref: MESH:D004541 {source="MONDO:equivalentTo"} xref: NCIT:C84390 {source="MONDO:equivalentTo"} xref: Orphanet:97214 {source="MONDO:equivalentTo"} @@ -382296,12 +382133,12 @@ id: MONDO:0019945 name: solar urticaria def: "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." [Orphanet:97230] subset: ordo_disease {source="Orphanet:97230"} -xref: ICD10CM:L56.3 {source="MONDO:equivalentTo", source="ORDO:97230/e", source="Orphanet:97230"} +xref: ICD10CM:L56.3 {source="Orphanet:97230/e", source="MONDO:equivalentTo", source="Orphanet:97230"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10041307 {source="ORDO:97230/e", source="Orphanet:97230"} +xref: MedDRA:10041307 {source="Orphanet:97230/e", source="Orphanet:97230"} xref: Orphanet:97230 {source="MONDO:equivalentTo"} xref: SCTID:10347006 {source="MONDO:equivalentTo"} -xref: UMLS:C0263610 {source="MONDO:equivalentTo", source="ORDO:97230/e", source="Orphanet:97230"} +xref: UMLS:C0263610 {source="Orphanet:97230/e", source="MONDO:equivalentTo", source="Orphanet:97230"} is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder [Term] @@ -382311,13 +382148,13 @@ def: "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis char subset: ordo_disease {source="Orphanet:97231"} synonym: "conjunctivitis lignosa" EXACT [Orphanet:97231] xref: GARD:0006187 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H10.4 {source="MONDO:subClassOf", source="ORDO:97231/attributed", source="ORDO:97231/ntbt", source="Orphanet:97231"} +xref: ICD10CM:H10.4 {source="MONDO:subClassOf", source="Orphanet:97231/attributed", source="Orphanet:97231/ntbt", source="Orphanet:97231"} xref: ICD9:372.39 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10071570 {source="ORDO:97231/e", source="Orphanet:97231"} -xref: OMIM:217090 {source="ORDO:97231/ntbt", source="MONDO:relatedTo", source="Orphanet:97231"} +xref: MedDRA:10071570 {source="Orphanet:97231/e", source="Orphanet:97231"} +xref: OMIM:217090 {source="MONDO:relatedTo", source="Orphanet:97231/ntbt", source="Orphanet:97231"} xref: Orphanet:97231 {source="MONDO:equivalentTo"} xref: SCTID:403435005 {source="MONDO:equivalentTo"} -xref: UMLS:C1274789 {source="MONDO:equivalentTo", source="ORDO:97231/e", source="Orphanet:97231"} +xref: UMLS:C1274789 {source="Orphanet:97231/e", source="MONDO:equivalentTo", source="Orphanet:97231"} is_a: MONDO:0002314 {source="MONDO:cjm"} ! chronic conjunctivitis is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder is_a: MONDO:0006170 {source="MONDO:Entailed", source="Orphanet:97231"} ! conjunctival disorder @@ -382362,13 +382199,13 @@ subset: gard_rare {source="GARD:0012162"} subset: ordo_disease {source="Orphanet:97239"} xref: DOID:0080090 {source="MONDO:equivalentTo"} xref: GARD:0012162 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:97239", source="ORDO:97239/attributed", source="ORDO:97239/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:97239", source="Orphanet:97239/attributed", source="Orphanet:97239/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} -xref: OMIM:300717 {source="MONDO:superClassOf", source="Orphanet:97239", source="ORDO:97239/btnt", source="DOID:0080090"} -xref: OMIM:300718 {source="MONDO:superClassOf", source="Orphanet:97239", source="ORDO:97239/btnt", source="DOID:0080090"} +xref: OMIM:300717 {source="MONDO:superClassOf", source="Orphanet:97239", source="DOID:0080090", source="Orphanet:97239/btnt"} +xref: OMIM:300718 {source="MONDO:superClassOf", source="Orphanet:97239", source="DOID:0080090", source="Orphanet:97239/btnt"} xref: Orphanet:97239 {source="MONDO:equivalentTo"} xref: SCTID:42779002 {source="MONDO:equivalentTo"} -xref: UMLS:C0270970 {source="ORDO:97239/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97239"} +xref: UMLS:C0270970 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97239", source="Orphanet:97239/e"} is_a: MONDO:0019952 {source="Orphanet:97239"} ! congenital myopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy xsd:anyURI {source="GARD:0012162"} @@ -382376,11 +382213,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12162/reducin id: MONDO:0019949 name: zebra body myopathy subset: ordo_disease {source="Orphanet:97240"} -xref: ICD10CM:G71.2 {source="ORDO:97240/attributed", source="ORDO:97240/ntbt", source="Orphanet:97240"} +xref: ICD10CM:G71.2 {source="Orphanet:97240/attributed", source="Orphanet:97240/ntbt", source="Orphanet:97240"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:97240 {source="MONDO:equivalentTo"} xref: SCTID:34513009 {source="MONDO:equivalentTo"} -xref: UMLS:C0270969 {source="MONDO:equivalentTo", source="ORDO:97240/e", source="Orphanet:97240"} +xref: UMLS:C0270969 {source="Orphanet:97240/e", source="MONDO:equivalentTo", source="Orphanet:97240"} is_a: MONDO:0019952 {source="Orphanet:97240"} ! congenital myopathy is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy @@ -382396,7 +382233,7 @@ synonym: "MDC" EXACT ABBREVIATION [Orphanet:97242] xref: DOID:0050557 {source="MONDO:equivalentTo"} xref: EFO:0006819 {source="MONDO:equivalentTo"} xref: GARD:0009138 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="ORDO:97242/ntbt", source="ORDO:97242/inclusion", source="Orphanet:97242"} +xref: ICD10CM:G71.2 {source="Orphanet:97242/ntbt", source="Orphanet:97242/inclusion", source="Orphanet:97242"} xref: ICD9:359.0 {source="DOID:0050557"} xref: OMIM:254100 {source="DOID:0050557", source="MONDO:superClassOf"} xref: Orphanet:97242 {source="DOID:0050557", source="MONDO:equivalentTo"} @@ -382405,7 +382242,7 @@ xref: SCTID:193221009 {source="DOID:0050557"} xref: SCTID:193224001 {source="DOID:0050557"} xref: SCTID:240059009 {source="MONDO:equivalentTo"} xref: UMLS:C0026850 {source="MONDO:subClassOf", source="Orphanet:97242"} -xref: UMLS:C0699743 {source="MONDO:equivalentTo", source="ORDO:97242/e", source="Orphanet:97242"} +xref: UMLS:C0699743 {source="Orphanet:97242/e", source="MONDO:equivalentTo", source="Orphanet:97242"} xref: UMLS:C2937300 {source="DOID:0050557", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020121 {source="DOID:0050557", source="Orphanet:97242", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -382421,9 +382258,9 @@ synonym: "muscular dystrophy, congenital, merosin positive with early spine rigi synonym: "rigid spine congenital muscular dystrophy" EXACT [Orphanet:97244] synonym: "rigid spine muscular dystrophy-1" RELATED [GARD:0004723] xref: GARD:0004723 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="Orphanet:97244", source="ORDO:97244/attributed", source="ORDO:97244/ntbt"} -xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="ORDO:97244/e"} -xref: OMIM:602771 {source="MONDO:subClassOf", source="Orphanet:97244", source="MONDO:superClassOf", source="ORDO:97244/ntbt"} +xref: ICD10CM:G71.2 {source="Orphanet:97244", source="Orphanet:97244/attributed", source="Orphanet:97244/ntbt"} +xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="Orphanet:97244/e"} +xref: OMIM:602771 {source="MONDO:subClassOf", source="Orphanet:97244", source="Orphanet:97244/ntbt", source="MONDO:superClassOf"} xref: Orphanet:97244 {source="MONDO:equivalentTo"} is_a: MONDO:0016187 {source="Orphanet:97244"} ! qualitative or quantitative defects of desmin is_a: MONDO:0016197 {source="Orphanet:97244"} ! qualitative or quantitative defects of selenoprotein N1 @@ -382440,12 +382277,12 @@ synonym: "congenital myopathy" EXACT CLINGEN_PREFERRED [] synonym: "myopathy congenital" RELATED [GARD:0005898] xref: DOID:0080100 {source="MONDO:equivalentTo"} xref: GARD:0005898 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G71.2 {source="Orphanet:97245", source="ORDO:97245/specific", source="ORDO:97245/e"} -xref: MedDRA:10062547 {source="Orphanet:97245", source="ORDO:97245/e"} +xref: ICD10CM:G71.2 {source="Orphanet:97245", source="Orphanet:97245/e", source="Orphanet:97245/specific"} +xref: MedDRA:10062547 {source="Orphanet:97245", source="Orphanet:97245/e"} xref: OMIM:255300 {source="DOID:0080100", source="MONDO:superClassOf"} xref: Orphanet:97245 {source="MONDO:equivalentTo"} xref: UMLS:C0027127 {source="Orphanet:97245", source="MONDO:superClassOf"} -xref: UMLS:C0270960 {source="Orphanet:97245", source="MONDO:notFoundInDiseaseSubset", source="ORDO:97245/e"} +xref: UMLS:C0270960 {source="Orphanet:97245", source="Orphanet:97245/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005336 {source="DOID:0080100", source="indirect"} ! myopathy is_a: MONDO:0016110 {source="Orphanet:97245"} ! non-dystrophic myopathy relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -382455,9 +382292,9 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 id: MONDO:0019953 name: mega-cisterna magna subset: ordo_morphological_anomaly {source="Orphanet:97252"} -xref: ICD10CM:Q07.8 {source="ORDO:97252/ntbt", source="Orphanet:97252"} +xref: ICD10CM:Q07.8 {source="Orphanet:97252/ntbt", source="Orphanet:97252"} xref: Orphanet:97252 {source="MONDO:equivalentTo"} -xref: UMLS:C3164501 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97252/e", source="Orphanet:97252"} +xref: UMLS:C3164501 {source="Orphanet:97252/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97252"} is_a: MONDO:0020134 {source="Orphanet:97252"} ! cystic malformation of the posterior fossa [Term] @@ -382483,7 +382320,7 @@ synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphane xref: DOID:1799 {source="MONDO:subClassOf", source="EFO:1000045"} xref: EFO:1000045 {source="MONDO:equivalentTo"} xref: GARD:0013034 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E16.8 {source="ORDO:97253/ntbt", source="Orphanet:97253"} +xref: ICD10CM:E16.8 {source="Orphanet:97253/ntbt", source="Orphanet:97253"} xref: ICDO:8150/1 {source="NCIT:C27720"} xref: NCIT:C27720 {source="EFO:1000045", source="MONDO:equivalentTo"} xref: ONCOTREE:PANET {source="MONDO:equivalentTo"} @@ -382502,7 +382339,7 @@ def: "6cm and approximately 1/3 have metastasized at the time of diagnosis. It o subset: ordo_disease {source="Orphanet:97261"} synonym: "GRF tumor" EXACT [Orphanet:97261] synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261] -xref: ICD10CM:E16.8 {source="ORDO:97261/ntbt", source="Orphanet:97261"} +xref: ICD10CM:E16.8 {source="Orphanet:97261", source="Orphanet:97261/ntbt"} xref: Orphanet:97261 {source="MONDO:equivalentTo"} xref: UMLS:CN206877 {source="MONDO:equivalentTo"} is_a: MONDO:0019954 {source="Orphanet:97261", source="Orphanet:97261/inferred"} ! pancreatic neuroendocrine tumor @@ -382520,15 +382357,15 @@ xref: ICD10CM:A85 {source="MONDO:equivalentTo"} xref: ICD9:323.0 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:323.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10014581 {source="ORDO:97275/e", source="Orphanet:97275"} -xref: MESH:D004660 {source="MONDO:equivalentTo", source="ORDO:97275/e", source="DOID:9588", source="Orphanet:97275"} +xref: MedDRA:10014581 {source="Orphanet:97275/e", source="Orphanet:97275"} +xref: MESH:D004660 {source="Orphanet:97275/e", source="MONDO:equivalentTo", source="DOID:9588", source="Orphanet:97275"} xref: NCIT:C26760 {source="MONDO:equivalentTo", source="DOID:9588"} xref: Orphanet:97275 {source="MONDO:equivalentTo"} xref: SCTID:192736002 {source="DOID:9588"} xref: SCTID:267578009 {source="DOID:9588"} xref: SCTID:267682000 {source="DOID:9588"} xref: SCTID:45170000 {source="MONDO:equivalentTo", source="DOID:9588"} -xref: UMLS:C0014038 {source="NCIT:C26760", source="MONDO:equivalentTo", source="ORDO:97275/e", source="DOID:9588", source="Orphanet:97275"} +xref: UMLS:C0014038 {source="NCIT:C26760", source="Orphanet:97275/e", source="MONDO:equivalentTo", source="DOID:9588", source="Orphanet:97275"} is_a: MONDO:0005560 {source="DOID:9588", source="MESH:D004660", source="MONDO:Entailed", source="indirect", source="linkedlifedata"} ! brain disorder is_a: MONDO:0015144 {source="MONDO:Redundant", source="Orphanet:97275"} ! brain inflammatory disease is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease @@ -382546,7 +382383,7 @@ subset: ordo_disease {source="Orphanet:97278"} synonym: "pancreatic polypeptide neoplasm" EXACT [NCIT:C67453] synonym: "pancreatic polypeptide tumor" EXACT [NCIT:C67453] synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278] -xref: ICD10CM:E16.8 {source="Orphanet:97278", source="ORDO:97278/ntbt"} +xref: ICD10CM:E16.8 {source="Orphanet:97278", source="Orphanet:97278/ntbt"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8152/1 {source="NCIT:C67453"} xref: NCIT:C67453 {source="MONDO:equivalentTo"} @@ -382574,13 +382411,13 @@ synonym: "glucagonoma syndrome" EXACT [Orphanet:97280] synonym: "pancreatic glucagonoma" EXACT [NCIT:C95597] xref: EFO:1000441 {source="MONDO:equivalentTo"} xref: GARD:0002496 {source="MONDO:equivalentTo"} -xref: ICD10CM:E16.8 {source="ORDO:97280/ntbt", source="Orphanet:97280"} -xref: MedDRA:10018404 {source="ORDO:97280/e", source="Orphanet:97280"} -xref: MESH:D005935 {source="ORDO:97280/e", source="MONDO:equivalentTo", source="Orphanet:97280"} +xref: ICD10CM:E16.8 {source="Orphanet:97280", source="Orphanet:97280/ntbt"} +xref: MedDRA:10018404 {source="Orphanet:97280", source="Orphanet:97280/e"} +xref: MESH:D005935 {source="MONDO:equivalentTo", source="Orphanet:97280", source="Orphanet:97280/e"} xref: NCIT:C95597 {source="MONDO:equivalentTo"} xref: Orphanet:97280 {source="MONDO:equivalentTo"} xref: SCTID:16424000 {source="MONDO:equivalentTo"} -xref: UMLS:C0017689 {source="GARD:0002496", source="ORDO:97280/e", source="MONDO:equivalentTo", source="Orphanet:97280"} +xref: UMLS:C0017689 {source="GARD:0002496", source="MONDO:equivalentTo", source="Orphanet:97280", source="Orphanet:97280/e"} is_a: MONDO:0019954 {source="NCIT:C95597/inferred", source="Orphanet:97280", source="Orphanet:97280/inferred"} ! pancreatic neuroendocrine tumor [Term] @@ -382614,16 +382451,16 @@ xref: DOID:5574 {source="MONDO:equivalentTo"} xref: EFO:1000622 {source="MONDO:equivalentTo"} xref: GARD:0003787 {source="MONDO:equivalentTo"} xref: GARD:0005493 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E16.8 {source="ORDO:97282/ntbt", source="Orphanet:97282"} +xref: ICD10CM:E16.8 {source="Orphanet:97282/ntbt", source="Orphanet:97282"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8155/1 {source="NCIT:C26749"} -xref: MedDRA:10047430 {source="ORDO:97282/e", source="Orphanet:97282"} -xref: MESH:D003969 {source="DOID:5574", source="MONDO:equivalentTo", source="ORDO:97282/e", source="Orphanet:97282"} +xref: MedDRA:10047430 {source="Orphanet:97282/e", source="Orphanet:97282"} +xref: MESH:D003969 {source="DOID:5574", source="Orphanet:97282/e", source="MONDO:equivalentTo", source="Orphanet:97282"} xref: NCIT:C26749 {source="DOID:5574", source="MONDO:equivalentTo"} xref: Orphanet:97282 {source="MONDO:equivalentTo"} xref: SCTID:253005002 {source="DOID:5574", source="MONDO:equivalentTo"} xref: SCTID:447643008 {source="DOID:5574"} -xref: UMLS:C0011993 {source="DOID:5574", source="MONDO:equivalentTo", source="ORDO:97282/e", source="Orphanet:97282", source="NCIT:C26749"} +xref: UMLS:C0011993 {source="DOID:5574", source="Orphanet:97282/e", source="MONDO:equivalentTo", source="Orphanet:97282", source="NCIT:C26749"} xref: UMLS:C0086768 {source="GARD:0003787", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97282"} is_a: MONDO:0000386 {source="MONDO:Redundant", source="NCIT:C26749", source="indirect"} ! digestive system neuroendocrine tumor, grade 1/2 is_a: MONDO:0019954 {source="Orphanet:97282", source="Orphanet:97282/inferred"} ! pancreatic neuroendocrine tumor @@ -382669,7 +382506,7 @@ synonym: "bronchus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "bronchus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "bronchus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of bronchus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] -xref: ICD10CM:D38.1 {source="ORDO:97287/ntbt", source="Orphanet:97287"} +xref: ICD10CM:D38.1 {source="Orphanet:97287/ntbt", source="Orphanet:97287"} xref: Orphanet:97287 {source="MONDO:equivalentTo"} xref: UMLS:CN206886 {source="MONDO:equivalentTo"} intersection_of: MONDO:0019496 ! neuroendocrine neoplasm @@ -382685,7 +382522,7 @@ synonym: "thymus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "thymus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] -xref: ICD10CM:D38.4 {source="Orphanet:97289", source="ORDO:97289/ntbt"} +xref: ICD10CM:D38.4 {source="Orphanet:97289", source="Orphanet:97289/ntbt"} xref: ONCOTREE:TNET {source="MONDO:equivalentTo"} xref: Orphanet:97289 {source="MONDO:equivalentTo"} xref: UMLS:CN206887 {source="MONDO:equivalentTo"} @@ -382726,11 +382563,11 @@ synonym: "Lunatomalacia" EXACT [Orphanet:97332] synonym: "osteochondritis of the lunate bone" EXACT [Orphanet:97332] synonym: "Osteochondrosis of the lunate bone" EXACT [Orphanet:97332] xref: GARD:0009690 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:M92.2 {source="Orphanet:97332", source="ORDO:97332/ntbt"} -xref: ICD10CM:M93.2 {source="Orphanet:97332", source="ORDO:97332/ntbt"} -xref: MedDRA:10064242 {source="Orphanet:97332", source="ORDO:97332/e"} +xref: ICD10CM:M92.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"} +xref: ICD10CM:M93.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"} +xref: MedDRA:10064242 {source="Orphanet:97332", source="Orphanet:97332/e"} xref: Orphanet:97332 {source="MONDO:equivalentTo"} -xref: UMLS:C0022682 {source="Orphanet:97332", source="MONDO:notFoundInDiseaseSubset", source="ORDO:97332/e"} +xref: UMLS:C0022682 {source="Orphanet:97332", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97332/e"} is_a: MONDO:0018381 {source="Orphanet:97332"} ! osteochondrosis [Term] @@ -382746,7 +382583,7 @@ def: "Panner's disease is an osteochondrosis of the capitellum of the humerus, c subset: ordo_disease {source="Orphanet:97336"} synonym: "aseptic necrosis of the capital humerus" EXACT [Orphanet:97336] synonym: "Osteochondrosis of the capital humerus" EXACT [Orphanet:97336] -xref: ICD10CM:M92.0 {source="Orphanet:97336", source="ORDO:97336/ntbt"} +xref: ICD10CM:M92.0 {source="Orphanet:97336/ntbt", source="Orphanet:97336"} xref: Orphanet:97336 {source="MONDO:equivalentTo"} xref: UMLS:CN206896 {source="MONDO:equivalentTo"} is_a: MONDO:0018381 {source="Orphanet:97336"} ! osteochondrosis @@ -382758,11 +382595,11 @@ def: "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting th subset: ordo_disease {source="Orphanet:97337"} synonym: "aseptic necrosis of patella" EXACT [Orphanet:97337] synonym: "Osteochondrosis of patella" EXACT [Orphanet:97337] -xref: ICD10CM:M92.4 {source="Orphanet:97337", source="ORDO:97337/ntbt"} -xref: MedDRA:10063585 {source="ORDO:97337/e", source="Orphanet:97337"} +xref: ICD10CM:M92.4 {source="Orphanet:97337/ntbt", source="Orphanet:97337"} +xref: MedDRA:10063585 {source="Orphanet:97337", source="Orphanet:97337/e"} xref: Orphanet:97337 {source="MONDO:equivalentTo"} -xref: UMLS:C0264096 {source="ORDO:97337/e", source="Orphanet:97337", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1504517 {source="ORDO:97337/e", source="Orphanet:97337", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0264096 {source="Orphanet:97337", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97337/e"} +xref: UMLS:C1504517 {source="Orphanet:97337", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97337/e"} xref: UMLS:CN206897 {source="MONDO:equivalentTo"} is_a: MONDO:0018381 {source="Orphanet:97337"} ! osteochondrosis @@ -382782,7 +382619,7 @@ name: dural sinus malformation subset: ordo_morphological_anomaly {source="Orphanet:97339"} synonym: "cranial dural arteriovenous fistula" EXACT [Orphanet:97339] synonym: "cranial dural arteriovenous malformations" EXACT [Orphanet:97339] -xref: ICD10CM:Q28.3 {source="ORDO:97339/ntbt", source="Orphanet:97339"} +xref: ICD10CM:Q28.3 {source="Orphanet:97339", source="Orphanet:97339/ntbt"} xref: Orphanet:97339 {source="MONDO:equivalentTo"} is_a: MONDO:0001256 {source="Orphanet:97339"} ! arteriovenous hemangioma/malformation is_a: MONDO:0015145 {source="Orphanet:97339"} ! neurovascular malformation @@ -382817,10 +382654,10 @@ synonym: "pellagra" EXACT [DOID:8457] xref: DOID:8457 {source="MONDO:equivalentTo"} xref: EFO:0008570 {source="MONDO:equivalentTo"} xref: GARD:0010014 {source="MONDO:equivalentTo"} -xref: ICD10CM:E52 {source="DOID:8457", source="ORDO:97352/e", source="Orphanet:97352"} +xref: ICD10CM:E52 {source="DOID:8457", source="Orphanet:97352/e", source="Orphanet:97352"} xref: ICD9:265.2 {source="DOID:8457"} -xref: MedDRA:10029400 {source="ORDO:97352/e", source="Orphanet:97352"} -xref: MESH:D010383 {source="DOID:8457", source="MONDO:equivalentTo", source="ORDO:97352/e", source="Orphanet:97352"} +xref: MedDRA:10029400 {source="Orphanet:97352/e", source="Orphanet:97352"} +xref: MESH:D010383 {source="DOID:8457", source="Orphanet:97352/e", source="MONDO:equivalentTo", source="Orphanet:97352"} xref: Orphanet:97352 {source="MONDO:equivalentTo"} xref: SCTID:154725000 {source="DOID:8457"} xref: SCTID:238127001 {source="DOID:8457"} @@ -382828,7 +382665,7 @@ xref: SCTID:267491008 {source="DOID:8457"} xref: SCTID:418186002 {source="DOID:8457"} xref: SCTID:418279001 {source="DOID:8457", source="MONDO:equivalentTo"} xref: SCTID:56550003 {source="DOID:8457"} -xref: UMLS:C0030783 {source="DOID:8457", source="MONDO:equivalentTo", source="ORDO:97352/e", source="Orphanet:97352"} +xref: UMLS:C0030783 {source="DOID:8457", source="Orphanet:97352/e", source="MONDO:equivalentTo", source="Orphanet:97352"} xref: UMLS:C4317126 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0006873 {source="DOID:8457", source="MESH:D010383/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease @@ -382855,8 +382692,8 @@ id: MONDO:0019977 name: parkinsonism with dementia of Guadeloupe def: "Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." [Orphanet:97355] subset: ordo_disease {source="Orphanet:97355"} -xref: ICD10EXP:F02.3* {source="Orphanet:97355", source="ORDO:97355/ntbt"} -xref: ICD10EXP:G20+ {source="Orphanet:97355", source="ORDO:97355/ntbt"} +xref: ICD10EXP:F02.3* {source="Orphanet:97355", source="Orphanet:97355/ntbt"} +xref: ICD10EXP:G20+ {source="Orphanet:97355", source="Orphanet:97355/ntbt"} xref: Orphanet:97355 {source="MONDO:equivalentTo"} xref: SCTID:715737004 {source="MONDO:equivalentTo"} xref: UMLS:CN206908 {source="MONDO:equivalentTo"} @@ -382878,17 +382715,17 @@ synonym: "Robinow dwarfism" EXACT [DOID:0060254, Orphanet:97360] synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360] xref: DOID:0060254 {source="MONDO:equivalentTo"} xref: GARD:0000312 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.1 {source="ORDO:97360/ntbt", source="DOID:0060254", source="Orphanet:97360", source="ORDO:97360/inclusion"} +xref: ICD10CM:Q87.1 {source="DOID:0060254", source="Orphanet:97360/inclusion", source="Orphanet:97360", source="Orphanet:97360/ntbt"} xref: MESH:C562492 {source="DOID:0060254"} xref: NCIT:C85048 {source="DOID:0060254", source="MONDO:equivalentTo"} -xref: OMIM:180700 {source="ORDO:97360/btnt", source="MONDO:superClassOf", source="Orphanet:97360"} -xref: OMIM:268310 {source="ORDO:97360/btnt", source="MONDO:superClassOf", source="Orphanet:97360"} -xref: OMIM:616331 {source="ORDO:97360/btnt", source="MONDO:superClassOf", source="Orphanet:97360"} -xref: OMIM:616894 {source="ORDO:97360/btnt", source="MONDO:superClassOf", source="Orphanet:97360"} +xref: OMIM:180700 {source="MONDO:superClassOf", source="Orphanet:97360", source="Orphanet:97360/btnt"} +xref: OMIM:268310 {source="MONDO:superClassOf", source="Orphanet:97360", source="Orphanet:97360/btnt"} +xref: OMIM:616331 {source="MONDO:superClassOf", source="Orphanet:97360", source="Orphanet:97360/btnt"} +xref: OMIM:616894 {source="MONDO:superClassOf", source="Orphanet:97360", source="Orphanet:97360/btnt"} xref: OMIMPS:268310 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:97360 {source="DOID:0060254", source="MONDO:equivalentTo"} xref: SCTID:76520005 {source="DOID:0060254", source="MONDO:superClassOf"} -xref: UMLS:C0265205 {source="DOID:0060254", source="MONDO:equivalentTo", source="ORDO:97360/e", source="Orphanet:97360", source="NCIT:C85048"} +xref: UMLS:C0265205 {source="Orphanet:97360/e", source="DOID:0060254", source="MONDO:equivalentTo", source="Orphanet:97360", source="NCIT:C85048"} xref: UMLS:CN776872 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0060254", source="NCIT:C85048", source="indirect"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:97360", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -382901,9 +382738,9 @@ id: MONDO:0019979 name: renal hypoplasia, unilateral def: "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." [Orphanet:97361] subset: ordo_clinical_subtype {source="Orphanet:97361"} -xref: ICD10CM:Q60.3 {source="MONDO:equivalentTo", source="ORDO:97361/e", source="ORDO:97361/specific", source="Orphanet:97361"} +xref: ICD10CM:Q60.3 {source="Orphanet:97361/specific", source="Orphanet:97361/e", source="MONDO:equivalentTo", source="Orphanet:97361"} xref: Orphanet:97361 {source="MONDO:equivalentTo"} -xref: UMLS:C0431691 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97361/e", source="Orphanet:97361"} +xref: UMLS:C0431691 {source="Orphanet:97361/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97361"} is_a: MONDO:0019637 {source="Orphanet:97361"} ! renal hypoplasia [Term] @@ -382911,10 +382748,10 @@ id: MONDO:0019980 name: renal hypoplasia, bilateral def: "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." [Orphanet:97362] subset: ordo_clinical_subtype {source="Orphanet:97362"} -xref: ICD10CM:Q60.4 {source="MONDO:equivalentTo", source="ORDO:97362/specific", source="ORDO:97362/e", source="Orphanet:97362"} +xref: ICD10CM:Q60.4 {source="Orphanet:97362/e", source="Orphanet:97362/specific", source="MONDO:equivalentTo", source="Orphanet:97362"} xref: Orphanet:97362 {source="MONDO:equivalentTo"} xref: SCTID:268232000 {source="MONDO:equivalentTo"} -xref: UMLS:C0431692 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97362/e", source="Orphanet:97362"} +xref: UMLS:C0431692 {source="Orphanet:97362/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97362"} is_a: MONDO:0019637 {source="Orphanet:97362", source="linkedlifedata", source="linkedlifedata/inferred"} ! renal hypoplasia [Term] @@ -382924,10 +382761,10 @@ def: "Unilateral multicystic dysplastic kidney is the form of multicystic dyspla subset: ordo_clinical_subtype {source="Orphanet:97363"} synonym: "unilateral MCDK" EXACT [Orphanet:97363] synonym: "unilateral multicystic renal dysplasia" EXACT [Orphanet:97363] -xref: ICD10CM:Q61.4 {source="ORDO:97363/attributed", source="ORDO:97363/ntbt", source="Orphanet:97363"} -xref: MESH:D021782 {source="MONDO:subClassOf", source="ORDO:97363/e", source="Orphanet:97363"} +xref: ICD10CM:Q61.4 {source="Orphanet:97363/attributed", source="Orphanet:97363/ntbt", source="Orphanet:97363"} +xref: MESH:D021782 {source="MONDO:subClassOf", source="Orphanet:97363/e", source="Orphanet:97363"} xref: Orphanet:97363 {source="MONDO:equivalentTo"} -xref: UMLS:C1567426 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97363/e", source="Orphanet:97363"} +xref: UMLS:C1567426 {source="Orphanet:97363/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97363"} is_a: MONDO:0015988 {source="Orphanet:97363"} ! multicystic dysplastic kidney [Term] @@ -382941,13 +382778,13 @@ synonym: "MRD" RELATED ABBREVIATION [GARD:0009517] synonym: "Pelvi-ureteric junction obstruction" RELATED [GARD:0009517] synonym: "PUJO" RELATED ABBREVIATION [GARD:0009517] xref: GARD:0009517 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q61.4 {source="ORDO:97364/attributed", source="ORDO:97364/ntbt", source="Orphanet:97364"} -xref: MESH:C537373 {source="ORDO:97364/e", source="Orphanet:97364"} -xref: MESH:D021782 {source="MONDO:subClassOf", source="ORDO:97364/e", source="Orphanet:97364"} +xref: ICD10CM:Q61.4 {source="Orphanet:97364/attributed", source="Orphanet:97364/ntbt", source="Orphanet:97364"} +xref: MESH:C537373 {source="Orphanet:97364/e", source="Orphanet:97364"} +xref: MESH:D021782 {source="MONDO:subClassOf", source="Orphanet:97364/e", source="Orphanet:97364"} xref: Orphanet:97364 {source="MONDO:equivalentTo"} xref: SCTID:717749002 {source="MONDO:equivalentTo"} -xref: UMLS:C1567427 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97364/e", source="Orphanet:97364"} -xref: UMLS:C1840451 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:97364/e", source="Orphanet:97364"} +xref: UMLS:C1567427 {source="Orphanet:97364/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97364"} +xref: UMLS:C1840451 {source="Orphanet:97364/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97364"} is_a: MONDO:0015988 {source="Orphanet:97364", source="linkedlifedata"} ! multicystic dysplastic kidney [Term] @@ -382966,7 +382803,7 @@ id: MONDO:0019984 name: renal tubular dysgenesis due to twin-twin transfusion def: "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)." [https://orcid.org/0000-0001-5208-3432, Orphanet:97367] subset: ordo_etiological_subtype {source="Orphanet:97367"} -xref: ICD10CM:Q63.8 {source="Orphanet:97367", source="ORDO:97367/ntbt"} +xref: ICD10CM:Q63.8 {source="Orphanet:97367/ntbt", source="Orphanet:97367"} xref: Orphanet:97367 {source="MONDO:equivalentTo"} xref: UMLS:CN206914 {source="MONDO:equivalentTo"} is_a: MONDO:0017609 {source="Orphanet:97367"} ! renal tubular dysgenesis @@ -382975,7 +382812,7 @@ is_a: MONDO:0017609 {source="Orphanet:97367"} ! renal tubular dysgenesis id: MONDO:0019985 name: drug-related renal tubular dysgenesis subset: ordo_etiological_subtype {source="Orphanet:97368"} -xref: ICD10CM:Q63.8 {source="Orphanet:97368", source="ORDO:97368/ntbt"} +xref: ICD10CM:Q63.8 {source="Orphanet:97368", source="Orphanet:97368/ntbt"} xref: Orphanet:97368 {source="MONDO:equivalentTo"} is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97368"} ! renal tubular dysgenesis intersection_of: MONDO:0017609 ! renal tubular dysgenesis @@ -382985,7 +382822,7 @@ intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug id: MONDO:0019986 name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy subset: ordo_histopathological_subtype {source="Orphanet:97555"} -xref: ICD10CM:N04.8 {source="Orphanet:97555", source="ORDO:97555/attributed", source="ORDO:97555/ntbt"} +xref: ICD10CM:N04.8 {source="Orphanet:97555", source="Orphanet:97555/attributed", source="Orphanet:97555/ntbt"} xref: Orphanet:97555 {source="MONDO:equivalentTo"} xref: UMLS:CN206920 {source="MONDO:equivalentTo"} is_a: MONDO:0019401 {source="Orphanet:97555"} ! sporadic idiopathic steroid-resistant nephrotic syndrome @@ -383004,7 +382841,7 @@ name: pauci-immune glomerulonephritis with ANCA def: "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." [Orphanet:97563] subset: ordo_clinical_subtype {source="Orphanet:97563"} synonym: "pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody" EXACT [Orphanet:97563] -xref: ICD10CM:N05.7 {source="Orphanet:97563", source="ORDO:97563/ntbt"} +xref: ICD10CM:N05.7 {source="Orphanet:97563", source="Orphanet:97563/ntbt"} xref: Orphanet:97563 {source="MONDO:equivalentTo"} xref: UMLS:CN206923 {source="MONDO:equivalentTo"} is_a: MONDO:0019641 {source="Orphanet:97563"} ! pauci-immune glomerulonephritis @@ -383016,7 +382853,7 @@ def: "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic subset: ordo_clinical_subtype {source="Orphanet:97564"} synonym: "antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis" EXACT [Orphanet:97564] synonym: "pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody" EXACT [Orphanet:97564] -xref: ICD10CM:N05.7 {source="Orphanet:97564", source="ORDO:97564/ntbt"} +xref: ICD10CM:N05.7 {source="Orphanet:97564", source="Orphanet:97564/ntbt"} xref: Orphanet:97564 {source="MONDO:equivalentTo"} is_a: MONDO:0019641 {source="Orphanet:97564"} ! pauci-immune glomerulonephritis @@ -383029,7 +382866,7 @@ synonym: "Congo red-negative amyloidosis-like glomerulopathy" EXACT [Orphanet:97 synonym: "fibrillary glomerulonephritis" RELATED [GARD:0012740] synonym: "non-amyloid fibrillary glomerulonephritis" EXACT [Orphanet:97566] xref: GARD:0012740 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:N03.6 {source="Orphanet:97566", source="ORDO:97566/ntbt"} +xref: ICD10CM:N03.6 {source="Orphanet:97566", source="Orphanet:97566/ntbt"} xref: Orphanet:97566 {source="MONDO:equivalentTo"} xref: SCTID:718192000 {source="MONDO:equivalentTo"} xref: UMLS:C4273674 {source="MONDO:equivalentTo"} @@ -383045,7 +382882,7 @@ synonym: "FGN" EXACT ABBREVIATION [NCIT:C96182] synonym: "fibrillary glomerulonephritis" EXACT [NCIT:C96182] synonym: "Immunotactoid glomerulonephritis" EXACT [Orphanet:97567] xref: GARD:0012048 {source="MONDO:equivalentTo"} -xref: ICD10CM:N03.6 {source="Orphanet:97567", source="ORDO:97567/ntbt"} +xref: ICD10CM:N03.6 {source="Orphanet:97567/ntbt", source="Orphanet:97567"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C96182 {source="MONDO:equivalentTo"} xref: Orphanet:97567 {source="MONDO:equivalentTo"} @@ -383065,10 +382902,10 @@ subset: gard_rare {source="GARD:0010758"} subset: ordo_group_of_disorders {source="Orphanet:97593"} xref: DOID:4184 {source="MONDO:equivalentTo"} xref: GARD:0010758 {source="MONDO:equivalentTo"} -xref: ICD10CM:E20.1 {source="MONDO:equivalentTo", source="ORDO:97593/specific", source="ORDO:97593/e", source="Orphanet:97593", source="DOID:4184"} +xref: ICD10CM:E20.1 {source="Orphanet:97593/e", source="Orphanet:97593/specific", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10037126 {source="ORDO:97593/e", source="Orphanet:97593"} -xref: MESH:D011547 {source="MONDO:equivalentTo", source="ORDO:97593/e", source="Orphanet:97593", source="DOID:4184"} +xref: MedDRA:10037126 {source="Orphanet:97593/e", source="Orphanet:97593"} +xref: MESH:D011547 {source="Orphanet:97593/e", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"} xref: NCIT:C99027 {source="MONDO:equivalentTo", source="DOID:4184"} xref: OMIM:603233 {source="MONDO:superClassOf", source="DOID:4184"} xref: OMIM:612462 {source="MONDO:superClassOf", source="DOID:4184"} @@ -383077,7 +382914,7 @@ xref: SCTID:154697005 {source="DOID:4184"} xref: SCTID:190867002 {source="DOID:4184"} xref: SCTID:267479004 {source="DOID:4184"} xref: SCTID:58976002 {source="MONDO:equivalentTo", source="DOID:4184"} -xref: UMLS:C0033806 {source="MONDO:equivalentTo", source="NCIT:C99027", source="ORDO:97593/e", source="Orphanet:97593", source="DOID:4184"} +xref: UMLS:C0033806 {source="Orphanet:97593/e", source="MONDO:equivalentTo", source="NCIT:C99027", source="Orphanet:97593", source="DOID:4184"} is_a: MONDO:0004689 {source="DOID:4184", source="MESH:D011547"} ! inborn metal metabolism disorder is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015327 {source="Orphanet:97593"} ! developmental anomaly of metabolic origin @@ -383092,10 +382929,10 @@ def: "A narrowing of renal arteries that is present since birth." [PMID:25316474 subset: ordo_disease {source="Orphanet:97598"} synonym: "congenital RAS" EXACT [PMID:25316474] synonym: "congenital renovascular hypoplasia" EXACT [Orphanet:97598] -xref: ICD10CM:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="ORDO:97598/e"} +xref: ICD10CM:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="Orphanet:97598/e"} xref: Orphanet:97598 {source="MONDO:equivalentTo"} xref: SCTID:271432005 {source="MONDO:equivalentTo"} -xref: UMLS:C0495523 {source="Orphanet:97598", source="MONDO:notFoundInDiseaseSubset", source="ORDO:97598/e"} +xref: UMLS:C0495523 {source="Orphanet:97598", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97598/e"} is_a: MONDO:0005240 {source="MONDO:0019748-obsoleted"} ! kidney disorder is_a: MONDO:0005385 {source="MONDO:0019748-obsoleted"} ! vascular disorder property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1741 xsd:anyURI @@ -383107,7 +382944,7 @@ def: "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of m subset: ordo_malformation_syndrome {source="Orphanet:97678"} synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:97678] synonym: "UPD(13)mat" EXACT [Orphanet:97678] -xref: ICD10CM:Q99.8 {source="Orphanet:97678", source="ORDO:97678/attributed", source="ORDO:97678/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:97678/attributed", source="Orphanet:97678/ntbt", source="Orphanet:97678"} xref: Orphanet:97678 {source="MONDO:equivalentTo"} xref: UMLS:CN036719 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -383120,9 +382957,9 @@ def: "Peripheral resistance to thyroid hormones may be a cause of permanent cong subset: gard_rare {source="GARD:0012734"} subset: ordo_disease {source="Orphanet:97927"} xref: GARD:0012734 {source="MONDO:equivalentTo"} -xref: ICD10CM:E03.1 {source="ORDO:97927/attributed", source="ORDO:97927/ntbt", source="Orphanet:97927"} -xref: OMIM:609893 {source="ORDO:97927/btnt", source="MONDO:superClassOf", source="Orphanet:97927"} -xref: OMIM:614450 {source="ORDO:97927/btnt", source="MONDO:superClassOf", source="Orphanet:97927"} +xref: ICD10CM:E03.1 {source="Orphanet:97927/attributed", source="Orphanet:97927/ntbt", source="Orphanet:97927"} +xref: OMIM:609893 {source="MONDO:superClassOf", source="Orphanet:97927/btnt", source="Orphanet:97927"} +xref: OMIM:614450 {source="MONDO:superClassOf", source="Orphanet:97927/btnt", source="Orphanet:97927"} xref: Orphanet:97927 {source="MONDO:equivalentTo"} xref: SCTID:718193005 {source="MONDO:equivalentTo"} xref: UMLS:C4273673 {source="MONDO:equivalentTo"} @@ -383262,7 +383099,7 @@ id: MONDO:0020007 name: absence of the pulmonary artery def: "Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age." [Orphanet:980] subset: ordo_morphological_anomaly {source="Orphanet:980"} -xref: ICD10CM:Q25.7 {source="ORDO:980/ntbt", source="Orphanet:980"} +xref: ICD10CM:Q25.7 {source="Orphanet:980/ntbt", source="Orphanet:980"} xref: Orphanet:980 {source="MONDO:equivalentTo"} xref: UMLS:CN206941 {source="MONDO:equivalentTo"} is_a: MONDO:0020287 {source="Orphanet:980"} ! pulmonary artery or pulmonary branch anomaly @@ -383308,7 +383145,7 @@ xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C27590 {source="MONDO:equivalentTo"} xref: Orphanet:98010 {source="MONDO:equivalentTo"} xref: SCTID:128116006 {source="MONDO:equivalentTo"} -xref: UMLS:C0597039 {source="MONDO:equivalentTo", source="ORDO:98010/e", source="NCIT:C27590", source="Orphanet:98010"} +xref: UMLS:C0597039 {source="Orphanet:98010/e", source="MONDO:equivalentTo", source="NCIT:C27590", source="Orphanet:98010"} is_a: MONDO:0005071 {source="Orphanet:98010"} ! nervous system disorder intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_location UBERON:0001016 ! nervous system @@ -383717,11 +383554,11 @@ synonym: "46,XY disorders of Sex development" EXACT [NCIT:C127171] synonym: "46,XY DSD" EXACT [Orphanet:98085] synonym: "XY female" RELATED [GARD:0008538] xref: GARD:0008538 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MESH:D058490 {source="MONDO:equivalentTo", source="ORDO:98085/e", source="Orphanet:98085"} +xref: MESH:D058490 {source="Orphanet:98085/e", source="MONDO:equivalentTo", source="Orphanet:98085"} xref: NCIT:C127171 {source="MONDO:equivalentTo"} xref: Orphanet:98085 {source="MONDO:equivalentTo"} xref: SCTID:8234004 {source="MONDO:equivalentTo"} -xref: UMLS:C2751824 {source="MONDO:equivalentTo", source="ORDO:98085/e", source="Orphanet:98085", source="NCIT:C127171"} +xref: UMLS:C2751824 {source="Orphanet:98085/e", source="MONDO:equivalentTo", source="Orphanet:98085", source="NCIT:C127171"} is_a: MONDO:0002145 {source="MESH:D058490", source="NCIT:C127171", source="Orphanet:98085"} ! difference of sexual differentiation [Term] @@ -383771,7 +383608,7 @@ id: MONDO:0020045 name: obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autosomal recessive cerebellar ataxia' subset: ordo_group_of_disorders {source="Orphanet:98097"} -xref: ICD10CM:G11.3 {source="ORDO:98097/e", source="Orphanet:98097", source="ORDO:98097/specific"} +xref: ICD10CM:G11.3 {source="Orphanet:98097/e", source="Orphanet:98097/specific", source="Orphanet:98097"} xref: Orphanet:98097 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227741 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -383806,7 +383643,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:981"} synonym: "agenesis of the internal carotid artery" RELATED [GARD:0003012] synonym: "internal carotid artery agenesis" RELATED [GARD:0003012] xref: GARD:0003012 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q28.1 {source="ORDO:981/ntbt", source="Orphanet:981"} +xref: ICD10CM:Q28.1 {source="Orphanet:981/ntbt", source="Orphanet:981"} xref: Orphanet:981 {source="MONDO:equivalentTo"} xref: SCTID:722004001 {source="MONDO:equivalentTo"} is_a: MONDO:0015145 {source="Orphanet:981"} ! neurovascular malformation @@ -383880,8 +383717,8 @@ id: MONDO:0020053 name: obsolete total autosomal monosomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98141"} -xref: ICD10CM:Q93.0 {source="ORDO:98141/btnt", source="Orphanet:98141", source="ORDO:98141/specific"} -xref: ICD10CM:Q93.1 {source="ORDO:98141/btnt", source="Orphanet:98141", source="ORDO:98141/specific"} +xref: ICD10CM:Q93.0 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"} +xref: ICD10CM:Q93.1 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"} xref: Orphanet:98141 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 property_value: IAO:0000231 "out of scope" xsd:string @@ -383895,9 +383732,9 @@ comment: Reason: grouping class. Term to consider: MONDO:0000761 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98142"} synonym: "partial autosomal deletion" EXACT [Orphanet:98142] -xref: ICD10CM:Q93.3 {source="MONDO:relatedTo", source="ORDO:98142/btnt", source="ORDO:98142/specific", source="Orphanet:98142"} -xref: ICD10CM:Q93.4 {source="ORDO:98142/btnt", source="ORDO:98142/specific", source="Orphanet:98142"} -xref: ICD10CM:Q93.5 {source="ORDO:98142/btnt", source="ORDO:98142/specific", source="Orphanet:98142"} +xref: ICD10CM:Q93.3 {source="Orphanet:98142/specific", source="MONDO:relatedTo", source="Orphanet:98142/btnt", source="Orphanet:98142"} +xref: ICD10CM:Q93.4 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} +xref: ICD10CM:Q93.5 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: Orphanet:98142 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 property_value: IAO:0000231 "out of scope" xsd:string @@ -383910,7 +383747,7 @@ name: obsolete autosomal uniparental disomy comment: Reason: grouping class. Term to consider: MONDO:0700086 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98152"} -xref: ICD10CM:Q99.8 {source="ORDO:98152/attributed", source="ORDO:98152/ntbt", source="Orphanet:98152"} +xref: ICD10CM:Q99.8 {source="Orphanet:98152", source="Orphanet:98152/attributed", source="Orphanet:98152/ntbt"} xref: Orphanet:98152 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN229262 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 @@ -383924,7 +383761,7 @@ name: obsolete uniparental disomy of maternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98153"} -xref: ICD10CM:Q99.8 {source="ORDO:98153/attributed", source="ORDO:98153/ntbt", source="Orphanet:98153"} +xref: ICD10CM:Q99.8 {source="Orphanet:98153/attributed", source="Orphanet:98153/ntbt", source="Orphanet:98153"} xref: Orphanet:98153 {source="MONDO:obsoleteEquivalent"} xref: SCTID:726401004 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 @@ -383937,7 +383774,7 @@ name: obsolete uniparental disomy of paternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98154"} -xref: ICD10CM:Q99.8 {source="ORDO:98154/attributed", source="ORDO:98154/ntbt", source="Orphanet:98154"} +xref: ICD10CM:Q99.8 {source="Orphanet:98154/attributed", source="Orphanet:98154/ntbt", source="Orphanet:98154"} xref: Orphanet:98154 {source="MONDO:obsoleteEquivalent"} xref: SCTID:726402006 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 @@ -383989,7 +383826,7 @@ name: obsolete chromosome Y structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98158"} -xref: ICD10CM:Q98.6 {source="Orphanet:98158", source="ORDO:98158/attributed", source="ORDO:98158/ntbt"} +xref: ICD10CM:Q98.6 {source="Orphanet:98158", source="Orphanet:98158/attributed", source="Orphanet:98158/ntbt"} xref: Orphanet:98158 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 property_value: IAO:0000231 "out of scope" xsd:string @@ -384001,7 +383838,7 @@ name: obsolete chromosome X structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98159"} -xref: ICD10CM:Q99.8 {source="Orphanet:98159", source="ORDO:98159/attributed", source="ORDO:98159/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:98159/attributed", source="Orphanet:98159/ntbt", source="Orphanet:98159"} xref: Orphanet:98159 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4272 property_value: IAO:0000231 "out of scope" xsd:string @@ -384032,7 +383869,7 @@ synonym: "congenital absence of the pulmonary valve" EXACT [Orphanet:982] synonym: "pulmonary valves agenesis" RELATED [GARD:0004597] synonym: "PVA" EXACT ABBREVIATION [Orphanet:982] xref: GARD:0004597 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q22.2 {source="ORDO:982/ntbt", source="Orphanet:982"} +xref: ICD10CM:Q22.2 {source="Orphanet:982/ntbt", source="Orphanet:982"} xref: Orphanet:982 {source="MONDO:equivalentTo"} xref: SCTID:6996004 {source="MONDO:equivalentTo"} is_a: MONDO:0016581 {source="Orphanet:982"} ! conotruncal heart malformations @@ -384045,7 +383882,7 @@ def: "A dystonia that is combined with another movement disorder (e.g., myoclonu subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98203"} synonym: "dystonia-plus syndrome" EXACT [Orphanet:98203] -xref: ICD10CM:G24.1 {source="Orphanet:98203", source="ORDO:98203/attributed", source="ORDO:98203/ntbt"} +xref: ICD10CM:G24.1 {source="Orphanet:98203/attributed", source="Orphanet:98203/ntbt", source="Orphanet:98203"} xref: Orphanet:98203 {source="MONDO:equivalentTo"} xref: UMLS:CN206969 {source="MONDO:equivalentTo"} is_a: MONDO:0044807 {source="Orphanet:98203"} ! inherited dystonia @@ -384078,10 +383915,10 @@ synonym: "skin elastic" EXACT [UMLS:C0013720] synonym: "Syndrome, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720] xref: DOID:13359 {source="MONDO:equivalentTo"} xref: GARD:0006322 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q79.6 {source="ORDO:98249/e", source="DOID:13359", source="ORDO:98249/specific", source="Orphanet:98249", source="MONDO:equivalentTo"} +xref: ICD10CM:Q79.6 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/specific", source="Orphanet:98249/e"} xref: ICD9:756.83 {source="DOID:13359", source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10014316 {source="ORDO:98249/e", source="Orphanet:98249"} -xref: MESH:D004535 {source="ORDO:98249/e", source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo"} +xref: MedDRA:10014316 {source="Orphanet:98249", source="Orphanet:98249/e"} +xref: MESH:D004535 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/e"} xref: NCIT:C34568 {source="DOID:13359", source="MONDO:equivalentTo"} xref: OMIM:225400 {source="DOID:13359", source="MONDO:superClassOf"} xref: OMIMPS:130000 {source="MONDO:equivalentTo"} @@ -384091,7 +383928,7 @@ xref: SCTID:2300005 {source="DOID:13359"} xref: SCTID:238848002 {source="DOID:13359"} xref: SCTID:268352002 {source="DOID:13359"} xref: SCTID:398114001 {source="DOID:13359", source="MONDO:equivalentTo"} -xref: UMLS:C0013720 {source="ORDO:98249/e", source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="NCIT:C34568"} +xref: UMLS:C0013720 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/e", source="NCIT:C34568"} is_a: MONDO:0002254 {source="NCIT:C34568"} ! syndromic disease is_a: MONDO:0019292 {source="Orphanet:98249", source="Orphanet:98249/inferred"} ! dermis elastic tissue disorder is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis @@ -384124,10 +383961,10 @@ name: postinfectious encephalitis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98253"} xref: ICD9:323.6 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10057235 {source="ORDO:98253/e", source="Orphanet:98253"} +xref: MedDRA:10057235 {source="Orphanet:98253/e", source="Orphanet:98253"} xref: Orphanet:98253 {source="MONDO:equivalentTo"} xref: SCTID:192727001 {source="MONDO:equivalentTo"} -xref: UMLS:C0393459 {source="MONDO:equivalentTo", source="ORDO:98253/e", source="Orphanet:98253"} +xref: UMLS:C0393459 {source="Orphanet:98253/e", source="MONDO:equivalentTo", source="Orphanet:98253"} is_a: MONDO:0019956 {source="MONDO:Redundant", source="Orphanet:98253", source="indirect", source="linkedlifedata"} ! encephalitis is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:98253"} ! infectious disorder of the nervous system intersection_of: MONDO:0019956 ! encephalitis @@ -384153,7 +383990,7 @@ name: neonatal epilepsy syndrome comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98257"} -xref: ICD10CM:G40.4 {source="Orphanet:98257", source="ORDO:98257/attributed", source="ORDO:98257/ntbt"} +xref: ICD10CM:G40.4 {source="Orphanet:98257", source="Orphanet:98257/attributed", source="Orphanet:98257/ntbt"} xref: Orphanet:98257 {source="MONDO:equivalentTo"} xref: UMLS:CN206974 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98257"} ! epilepsy syndrome @@ -384171,7 +384008,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98258"} synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "infantile epilepsy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] -xref: ICD10CM:G40.4 {source="Orphanet:98258", source="ORDO:98258/attributed", source="ORDO:98258/ntbt"} +xref: ICD10CM:G40.4 {source="Orphanet:98258/attributed", source="Orphanet:98258/ntbt", source="Orphanet:98258"} xref: Orphanet:98258 {source="MONDO:equivalentTo"} xref: UMLS:CN206975 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98258"} ! epilepsy syndrome @@ -384190,7 +384027,7 @@ synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern] synonym: "childhood-onset epilepsy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -xref: ICD10CM:G40.4 {source="Orphanet:98259", source="ORDO:98259/attributed", source="ORDO:98259/ntbt"} +xref: ICD10CM:G40.4 {source="Orphanet:98259", source="Orphanet:98259/attributed", source="Orphanet:98259/ntbt"} xref: Orphanet:98259 {source="MONDO:equivalentTo"} xref: UMLS:CN206976 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98259"} ! epilepsy syndrome @@ -384204,7 +384041,7 @@ name: adolescent-onset epilepsy syndrome comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98260"} -xref: ICD10CM:G40.4 {source="ORDO:98260/attributed", source="ORDO:98260/ntbt", source="Orphanet:98260"} +xref: ICD10CM:G40.4 {source="Orphanet:98260", source="Orphanet:98260/attributed", source="Orphanet:98260/ntbt"} xref: Orphanet:98260 {source="MONDO:equivalentTo"} xref: UMLS:CN206977 {source="MONDO:equivalentTo"} is_a: MONDO:0015650 {source="Orphanet:98260"} ! epilepsy syndrome @@ -384224,7 +384061,7 @@ synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [DOID:891 synonym: "progressive myoclonus epilepsy" EXACT CLINGEN_PREFERRED [DOID:891, MONDO:0004676, NCIT:C7636, Orphanet:98261] xref: DOID:891 {source="MONDO:equivalentTo"} xref: GARD:0007140 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MESH:D020191 {source="MONDO:equivalentTo", source="ORDO:98261/e", source="DOID:891", source="Orphanet:98261"} +xref: MESH:D020191 {source="Orphanet:98261/e", source="MONDO:equivalentTo", source="DOID:891", source="Orphanet:98261"} xref: NCIT:C7636 {source="MONDO:equivalentTo", source="DOID:891"} xref: OMIM:254900 {source="MONDO:superClassOf", source="DOID:891"} xref: OMIM:310370 {source="MONDO:superClassOf", source="DOID:891"} @@ -384236,7 +384073,7 @@ xref: Orphanet:98261 {source="MONDO:equivalentTo"} xref: SCTID:192844008 {source="DOID:891"} xref: SCTID:267581004 {source="MONDO:equivalentTo", source="DOID:891"} xref: SCTID:89480000 {source="DOID:891"} -xref: UMLS:C0751778 {source="MONDO:equivalentTo", source="ORDO:98261/e", source="DOID:891", source="NCIT:C7636", source="Orphanet:98261"} +xref: UMLS:C0751778 {source="Orphanet:98261/e", source="MONDO:equivalentTo", source="DOID:891", source="NCIT:C7636", source="Orphanet:98261"} is_a: MONDO:0005027 {source="DOID:891/inferred", source="MESH:D020191/inferred", source="MONDO:Redundant", source="NCIT:C7636", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy is_a: MONDO:0020072 {source="Orphanet:98261"} ! childhood-onset epilepsy syndrome is_a: MONDO:0020073 {source="Orphanet:98261"} ! adolescent-onset epilepsy syndrome @@ -384284,8 +384121,8 @@ xref: ICD10CM:D47.1 {source="DOID:2226"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9960/3 {source="NCIT:C4345"} xref: ICDO:9975/1 {source="NCIT:C4345"} -xref: MedDRA:10028576 {source="ORDO:98274/e", source="Orphanet:98274"} -xref: MESH:D009196 {source="DOID:4960", source="ORDO:98274/e", source="EFO:0004251", source="Orphanet:98274"} +xref: MedDRA:10028576 {source="Orphanet:98274/e", source="Orphanet:98274"} +xref: MESH:D009196 {source="DOID:4960", source="Orphanet:98274/e", source="EFO:0004251", source="Orphanet:98274"} xref: NCIT:C103126 {source="MONDO:otherHierarchy", source="EFO:0002428"} xref: NCIT:C4345 {source="DOID:2226", source="MONDO:equivalentTo", source="EFO:0004251"} xref: OMIM:131440 {source="MONDO:superClassOf", source="EFO:0002428"} @@ -384296,8 +384133,8 @@ xref: SCTID:115248004 {source="DOID:2226"} xref: SCTID:128842008 {source="DOID:2226"} xref: SCTID:20921005 {source="DOID:2226"} xref: SCTID:425333006 {source="MONDO:equivalentTo"} -xref: UMLS:C0027022 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98274/e", source="Orphanet:98274"} -xref: UMLS:C1292778 {source="DOID:2226", source="MONDO:equivalentTo", source="ORDO:98274/e", source="NCIT:C4345", source="Orphanet:98274"} +xref: UMLS:C0027022 {source="Orphanet:98274/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98274"} +xref: UMLS:C1292778 {source="Orphanet:98274/e", source="DOID:2226", source="MONDO:equivalentTo", source="NCIT:C4345", source="Orphanet:98274"} is_a: MONDO:0005170 {source="DOID:2226", source="EFO:0002428", source="MONDO:Redundant", source="NCIT:C4345", source="ONCOTREE:MPN/inferred"} ! myeloid neoplasm is_a: MONDO:0015756 {source="Orphanet:98274"} ! myeloid hemopathy is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C4345"} ! bone marrow cancer @@ -384314,9 +384151,9 @@ def: "Clonal myeloid disorders that possess both dysplastic and proliferative fe subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98275"} xref: GARD:0009351 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: MESH:D054437 {source="MONDO:equivalentTo", source="ORDO:98275/e", source="Orphanet:98275"} +xref: MESH:D054437 {source="Orphanet:98275/e", source="MONDO:equivalentTo", source="Orphanet:98275"} xref: Orphanet:98275 {source="MONDO:equivalentTo"} -xref: UMLS:C1301355 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98275/e", source="Orphanet:98275"} +xref: UMLS:C1301355 {source="Orphanet:98275/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98275"} is_a: MONDO:0015756 {source="Orphanet:98275"} ! myeloid hemopathy [Term] @@ -384335,7 +384172,7 @@ xref: NCIT:C7175 {source="MONDO:obsoleteEquivalent"} xref: OMIM:601626 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:98277"} xref: ONCOTREE:AMLRGA {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98277 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C1275661 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98277/e", source="Orphanet:98277"} +xref: UMLS:C1275661 {source="Orphanet:98277/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98277"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly xsd:anyURI {source="GARD:0012758"} @@ -384376,7 +384213,7 @@ synonym: "Dendritic cell sarcoma, Not otherwise specified" NARROW [NCIT:C27260] synonym: "Dendritic cell tumor, NOS" NARROW [NCIT:C27260] synonym: "Dendritic cell tumor, Not otherwise specified" NARROW [NCIT:C27260] xref: GARD:0008317 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.4 {source="Orphanet:98289", source="ORDO:98289/e"} +xref: ICD10CM:C96.4 {source="Orphanet:98289", source="Orphanet:98289/e"} xref: NCIT:C27260 {source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: Orphanet:98289 {source="MONDO:equivalentTo"} xref: SCTID:737223000 {source="MONDO:equivalentTo"} @@ -384393,7 +384230,7 @@ id: MONDO:0020083 name: immunodeficiency-associated lymphoproliferative disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98290"} -xref: ICD10CM:D47.9 {source="Orphanet:98290", source="ORDO:98290/ntbt"} +xref: ICD10CM:D47.9 {source="Orphanet:98290", source="Orphanet:98290/ntbt"} xref: Orphanet:98290 {source="MONDO:equivalentTo"} xref: UMLS:CN206985 {source="MONDO:equivalentTo"} is_a: MONDO:0015757 {source="Orphanet:98290"} ! lymphoid hemopathy @@ -384403,7 +384240,7 @@ id: MONDO:0020084 name: lymphoproliferative disease associated with primary immune disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98291"} -xref: ICD10CM:D47.9 {source="ORDO:98291/ntbt", source="Orphanet:98291"} +xref: ICD10CM:D47.9 {source="Orphanet:98291", source="Orphanet:98291/ntbt"} xref: Orphanet:98291 {source="MONDO:equivalentTo"} xref: UMLS:CN206986 {source="MONDO:equivalentTo"} is_a: MONDO:0020083 {source="Orphanet:98291"} ! immunodeficiency-associated lymphoproliferative disease @@ -384428,7 +384265,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98305"} synonym: "genetic lipodystrophy" EXACT [] synonym: "genetic lipodystrophy (disease)" EXACT [MONDO:patterns/genetic] -xref: ICD10CM:E88.1 {source="Orphanet:98305", source="ORDO:98305/attributed", source="ORDO:98305/ntbt"} +xref: ICD10CM:E88.1 {source="Orphanet:98305/attributed", source="Orphanet:98305/ntbt", source="Orphanet:98305"} xref: Orphanet:98305 {source="MONDO:equivalentTo"} xref: SCTID:724841000 {source="MONDO:equivalentTo"} xref: UMLS:C4511302 {source="MONDO:equivalentTo"} @@ -384451,8 +384288,8 @@ synonym: "Koberling-Dunnigan syndrome" EXACT [DOID:0050440] synonym: "lipodystrophy, familial partial" EXACT [OMIMPS:151660] xref: DOID:0050440 {source="MONDO:equivalentTo"} xref: GARD:0011962 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E88.1 {source="Orphanet:98306", source="ORDO:98306/attributed", source="ORDO:98306/ntbt"} -xref: MESH:D052496 {source="DOID:0050440", source="ORDO:98306/e", source="MONDO:equivalentTo", source="Orphanet:98306"} +xref: ICD10CM:E88.1 {source="Orphanet:98306", source="Orphanet:98306/attributed", source="Orphanet:98306/ntbt"} +xref: MESH:D052496 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="Orphanet:98306/e"} xref: NCIT:C84708 {source="DOID:0050440", source="MONDO:equivalentTo"} xref: OMIM:151660 {source="DOID:0050440", source="MONDO:superClassOf"} xref: OMIM:604367 {source="DOID:0050440", source="MONDO:superClassOf"} @@ -384462,7 +384299,7 @@ xref: OMIM:615238 {source="DOID:0050440", source="MONDO:superClassOf"} xref: OMIMPS:151660 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98306 {source="MONDO:equivalentTo"} xref: SCTID:49292002 {source="DOID:0050440", source="MONDO:equivalentTo"} -xref: UMLS:C0271694 {source="DOID:0050440", source="ORDO:98306/e", source="MONDO:equivalentTo", source="Orphanet:98306", source="NCIT:C84708"} +xref: UMLS:C0271694 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="NCIT:C84708", source="Orphanet:98306/e"} xref: UMLS:C1720859 {source="DOID:0050440", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1720860 {source="DOID:0050440", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1720861 {source="DOID:0050440", source="MONDO:notFoundInDiseaseSubset"} @@ -384480,10 +384317,10 @@ def: "An instance of lipodystrophy (disease) that is acquired during the lifetim subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98307"} synonym: "acquired lipodystrophy (disease)" EXACT [MONDO:patterns/acquired] -xref: ICD10CM:E88.1 {source="ORDO:98307/ntbt", source="Orphanet:98307"} -xref: MedDRA:10049287 {source="ORDO:98307/e", source="Orphanet:98307"} +xref: ICD10CM:E88.1 {source="Orphanet:98307", source="Orphanet:98307/ntbt"} +xref: MedDRA:10049287 {source="Orphanet:98307", source="Orphanet:98307/e"} xref: Orphanet:98307 {source="MONDO:equivalentTo"} -xref: UMLS:C0877192 {source="ORDO:98307/e", source="MONDO:equivalentTo", source="Orphanet:98307"} +xref: UMLS:C0877192 {source="MONDO:equivalentTo", source="Orphanet:98307", source="Orphanet:98307/e"} intersection_of: MONDO:0006573 ! lipodystrophy intersection_of: has_modifier MONDO:0021141 ! acquired @@ -384505,7 +384342,7 @@ name: obsolete male infertility due to obstructive azoospermia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:98343"} synonym: "Male infertility due to impaired sperm transport" EXACT [Orphanet:98343] -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="ORDO:98343/ntbt", source="Orphanet:98343"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:98343/ntbt", source="Orphanet:98343"} xref: Orphanet:98343 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -384516,7 +384353,7 @@ consider: MONDO:0005372 id: MONDO:0020092 name: obsolete rare idiopathic male infertility subset: ordo_disease {source="Orphanet:98345"} -xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:98345", source="ORDO:98345/ntbt"} +xref: ICD10CM:N46 {source="MONDO:subClassOf", source="Orphanet:98345", source="Orphanet:98345/ntbt"} xref: Orphanet:98345 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227777 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 "out of scope" xsd:string @@ -384533,7 +384370,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98349"} synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349] synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: ICD10CM:Q82.8 {source="Orphanet:98349", source="ORDO:98349/attributed", source="ORDO:98349/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:98349/attributed", source="Orphanet:98349/ntbt", source="Orphanet:98349"} xref: Orphanet:98349 {source="MONDO:equivalentTo"} xref: UMLS:CN229268 {source="MONDO:equivalentTo"} is_a: MONDO:0017667 {source="MONDO:Redundant", source="Orphanet:98349"} ! isolated diffuse palmoplantar keratoderma @@ -384555,7 +384392,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q82.8 {source="ORDO:98352/attributed", source="ORDO:98352/ntbt", source="Orphanet:98352"} +consider: ICD10CM:Q82.8 {source="Orphanet:98352/attributed", source="Orphanet:98352/ntbt", source="Orphanet:98352"} [Term] id: MONDO:0020095 @@ -384573,7 +384410,7 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q82.8 {source="ORDO:98353/attributed", source="ORDO:98353/ntbt", source="Orphanet:98353"} +consider: ICD10CM:Q82.8 {source="Orphanet:98353/attributed", source="Orphanet:98353/ntbt", source="Orphanet:98353"} [Term] id: MONDO:0020096 @@ -384583,7 +384420,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98356"} synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356] synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: ICD10CM:Q82.8 {source="Orphanet:98356", source="ORDO:98356/attributed", source="ORDO:98356/ntbt"} +xref: ICD10CM:Q82.8 {source="Orphanet:98356", source="Orphanet:98356/attributed", source="Orphanet:98356/ntbt"} xref: Orphanet:98356 {source="MONDO:equivalentTo"} xref: UMLS:CN229269 {source="MONDO:equivalentTo"} is_a: MONDO:0017667 {source="MONDO:Redundant", source="Orphanet:98356"} ! isolated diffuse palmoplantar keratoderma @@ -384605,14 +384442,14 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI is_obsolete: true -consider: ICD10CM:Q82.8 {source="Orphanet:98357", source="ORDO:98357/attributed", source="ORDO:98357/ntbt"} +consider: ICD10CM:Q82.8 {source="Orphanet:98357/attributed", source="Orphanet:98357/ntbt", source="Orphanet:98357"} [Term] id: MONDO:0020098 name: obsolete constitutional anemia due to iron metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited deficiency anemia' subset: ordo_group_of_disorders {source="Orphanet:98360"} -xref: ICD10CM:D50.8 {source="ORDO:98360/attributed", source="ORDO:98360/ntbt", source="Orphanet:98360"} +xref: ICD10CM:D50.8 {source="Orphanet:98360/attributed", source="Orphanet:98360/ntbt", source="Orphanet:98360"} xref: Orphanet:98360 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227778 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -384627,7 +384464,7 @@ comment: We are pretty sure Orphanet means inherited/hereditary. This was rename subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98362"} synonym: "constitutional sideroblastic anemia" EXACT [Orphanet:98362] -xref: ICD10CM:D64.0 {source="ORDO:98362/e", source="ORDO:98362/specific", source="Orphanet:98362"} +xref: ICD10CM:D64.0 {source="Orphanet:98362/specific", source="Orphanet:98362/e", source="Orphanet:98362"} xref: OMIMPS:300751 {source="MONDO:equivalentTo"} xref: Orphanet:98362 {source="MONDO:equivalentTo"} xref: UMLS:C0221018 {source="Orphanet:98362"} @@ -384676,7 +384513,7 @@ name: hereditary stomatocytosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98365"} synonym: "hereditary stomatocytic disease" EXACT [Orphanet:98365] -xref: ICD10CM:D58.8 {source="ORDO:98365/specific", source="ORDO:98365/e", source="Orphanet:98365"} +xref: ICD10CM:D58.8 {source="Orphanet:98365/specific", source="Orphanet:98365/e", source="Orphanet:98365"} xref: ICD9:282.8 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98365 {source="MONDO:equivalentTo"} xref: SCTID:14087004 {source="MONDO:equivalentTo"} @@ -384689,7 +384526,7 @@ name: obsolete constitutional hemolytic anemia due to acanthocytosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98366"} synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [Orphanet:98366] -xref: ICD10CM:E78.6 {source="Orphanet:98366", source="ORDO:98366/index", source="ORDO:98366/ntbt"} +xref: ICD10CM:E78.6 {source="Orphanet:98366", source="Orphanet:98366/index", source="Orphanet:98366/ntbt"} xref: Orphanet:98366 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0687751 {source="Orphanet:98366", source="MONDO:notFoundInDiseaseSubset"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -384710,19 +384547,19 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: ICD10CM:D55.0 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"} -consider: ICD10CM:D55.1 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"} -consider: ICD10CM:D55.2 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"} -consider: ICD10CM:D55.3 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"} -consider: ICD10CM:D55.8 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"} -consider: ICD10CM:D55.9 {source="Orphanet:98369", source="ORDO:98369/specific", source="ORDO:98369/btnt"} +consider: ICD10CM:D55.0 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} +consider: ICD10CM:D55.1 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} +consider: ICD10CM:D55.2 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} +consider: ICD10CM:D55.3 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} +consider: ICD10CM:D55.8 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} +consider: ICD10CM:D55.9 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} [Term] id: MONDO:0020105 name: obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98370"} -xref: ICD10CM:D55.1 {source="ORDO:98370/e", source="Orphanet:98370", source="ORDO:98370/specific"} +xref: ICD10CM:D55.1 {source="Orphanet:98370/specific", source="Orphanet:98370", source="Orphanet:98370/e"} xref: Orphanet:98370 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -384734,7 +384571,7 @@ id: MONDO:0020106 name: obsolete hemolytic anemia due to a disorder of glycolytic enzymes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98372"} -xref: ICD10CM:D55.2 {source="ORDO:98372/e", source="Orphanet:98372", source="ORDO:98372/specific"} +xref: ICD10CM:D55.2 {source="Orphanet:98372/e", source="Orphanet:98372/specific", source="Orphanet:98372"} xref: Orphanet:98372 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227783 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -384748,7 +384585,7 @@ name: obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism diso comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98374"} synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [Orphanet:98374] -xref: ICD10CM:D55.3 {source="ORDO:98374/specific", source="ORDO:98374/e", source="Orphanet:98374"} +xref: ICD10CM:D55.3 {source="Orphanet:98374/e", source="Orphanet:98374/specific", source="Orphanet:98374"} xref: Orphanet:98374 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227784 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -384776,11 +384613,11 @@ xref: CSP:0427-1178 {source="DOID:718"} xref: DOID:718 {source="MONDO:equivalentTo"} xref: EFO:1001264 {source="MONDO:equivalentTo"} xref: GARD:0005870 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D59.0 {source="ORDO:98375/ntbt", source="MONDO:superClassOf", source="Orphanet:98375"} -xref: ICD10CM:D59.1 {source="ORDO:98375/ntbt", source="Orphanet:98375"} +xref: ICD10CM:D59.0 {source="Orphanet:98375/ntbt", source="MONDO:superClassOf", source="Orphanet:98375"} +xref: ICD10CM:D59.1 {source="Orphanet:98375/ntbt", source="Orphanet:98375"} xref: ICD9:283.0 {source="MONDO:equivalentTo", source="DOID:718", source="i2s"} -xref: MedDRA:10002046 {source="ORDO:98375/e", source="Orphanet:98375"} -xref: MESH:D000744 {source="MONDO:equivalentTo", source="DOID:718", source="ORDO:98375/e", source="Orphanet:98375"} +xref: MedDRA:10002046 {source="Orphanet:98375/e", source="Orphanet:98375"} +xref: MESH:D000744 {source="Orphanet:98375/e", source="MONDO:equivalentTo", source="DOID:718", source="Orphanet:98375"} xref: NCIT:C34378 {source="MONDO:equivalentTo", source="DOID:718"} xref: OMIM:205700 {source="MONDO:equivalentTo", source="DOID:718"} xref: Orphanet:98375 {source="MONDO:equivalentTo"} @@ -384789,7 +384626,7 @@ xref: SCTID:191209000 {source="DOID:718"} xref: SCTID:191215000 {source="DOID:718"} xref: SCTID:25121006 {source="DOID:718"} xref: SCTID:413603009 {source="MONDO:equivalentTo", source="DOID:718"} -xref: UMLS:C0002880 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:205700", source="DOID:718", source="NCIT:C34378", source="ORDO:98375/e", source="Orphanet:98375"} +xref: UMLS:C0002880 {source="NCBI:mim2gene_medline", source="Orphanet:98375/e", source="MONDO:equivalentTo", source="OMIM:205700", source="DOID:718", source="NCIT:C34378", source="Orphanet:98375"} is_a: MONDO:0000602 {source="DOID:718"} ! autoimmune disorder of blood intersection_of: MONDO:0003664 ! hemolytic anemia intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -384801,12 +384638,12 @@ id: MONDO:0020109 name: obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP_0001889 Megaloblastic anemia' subset: ordo_group_of_disorders {source="Orphanet:98396"} -xref: ICD10CM:D51.0 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"} -xref: ICD10CM:D51.1 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"} -xref: ICD10CM:D51.2 {source="ORDO:98396/btnt", source="MONDO:superClassOf", source="ORDO:98396/specific", source="Orphanet:98396"} -xref: ICD10CM:D51.3 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"} -xref: ICD10CM:D51.8 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"} -xref: ICD10CM:D51.9 {source="ORDO:98396/btnt", source="ORDO:98396/specific", source="Orphanet:98396"} +xref: ICD10CM:D51.0 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} +xref: ICD10CM:D51.1 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} +xref: ICD10CM:D51.2 {source="Orphanet:98396/specific", source="MONDO:superClassOf", source="Orphanet:98396/btnt", source="Orphanet:98396"} +xref: ICD10CM:D51.3 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} +xref: ICD10CM:D51.8 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} +xref: ICD10CM:D51.9 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} xref: Orphanet:98396 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227785 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -384824,13 +384661,13 @@ synonym: "congenital lung agenesis" RELATED [GARD:0009119] synonym: "unilateral lobar pulmonary agenesis" RELATED [GARD:0009119] synonym: "unilateral lung agenesis" RELATED [GARD:0009119] xref: GARD:0009119 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q33.3 {source="Orphanet:984", source="ORDO:984/e"} +xref: ICD10CM:Q33.3 {source="Orphanet:984", source="Orphanet:984/e"} xref: ICD9:748.5 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10037322 {source="Orphanet:984", source="ORDO:984/e"} +xref: MedDRA:10037322 {source="Orphanet:984", source="Orphanet:984/e"} xref: NCIT:C99028 {source="MONDO:equivalentTo"} xref: Orphanet:984 {source="MONDO:equivalentTo"} xref: SCTID:66489009 {source="MONDO:equivalentTo"} -xref: UMLS:C0265780 {source="Orphanet:984", source="MONDO:equivalentTo", source="NCIT:C99028", source="ORDO:984/e"} +xref: UMLS:C0265780 {source="Orphanet:984", source="MONDO:equivalentTo", source="Orphanet:984/e", source="NCIT:C99028"} is_a: MONDO:0015221 {source="Orphanet:984"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:984"} ! respiratory malformation @@ -384839,7 +384676,7 @@ id: MONDO:0020111 name: obsolete constitutional megaloblastic anemia due to folate metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP_0001889 Megaloblastic anemia' subset: ordo_group_of_disorders {source="Orphanet:98408"} -xref: ICD10CM:D52.8 {source="ORDO:98408/attributed", source="ORDO:98408/ntbt", source="Orphanet:98408"} +xref: ICD10CM:D52.8 {source="Orphanet:98408", source="Orphanet:98408/attributed", source="Orphanet:98408/ntbt"} xref: Orphanet:98408 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN227786 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 @@ -384852,11 +384689,11 @@ id: MONDO:0020112 name: vitamin B12- and folate-independent constitutional megaloblastic anemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98415"} -xref: ICD10CM:D53.0 {source="MONDO:relatedTo", source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"} -xref: ICD10CM:D53.1 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"} -xref: ICD10CM:D53.2 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"} -xref: ICD10CM:D53.8 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"} -xref: ICD10CM:D53.9 {source="Orphanet:98415", source="ORDO:98415/inclusion", source="ORDO:98415/ntbt"} +xref: ICD10CM:D53.0 {source="Orphanet:98415/ntbt", source="MONDO:relatedTo", source="Orphanet:98415/inclusion", source="Orphanet:98415"} +xref: ICD10CM:D53.1 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"} +xref: ICD10CM:D53.2 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"} +xref: ICD10CM:D53.8 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"} +xref: ICD10CM:D53.9 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"} xref: Orphanet:98415 {source="MONDO:equivalentTo"} is_a: MONDO:0001700 {source="MONDO:cjm"} ! megaloblastic anemia is_a: MONDO:0016624 {source="Orphanet:98415"} ! inherited deficiency anemia @@ -384868,14 +384705,14 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98421"} synonym: "primary autoimmune red cell aplasia" EXACT [Orphanet:98421] synonym: "red cell aplasia" BROAD [ICD9:284.81] -xref: ICD10CM:D60.0 {source="Orphanet:98421", source="ORDO:98421/ntbt"} -xref: ICD10CM:D60.1 {source="Orphanet:98421", source="ORDO:98421/ntbt"} -xref: ICD10CM:D60.8 {source="Orphanet:98421", source="ORDO:98421/ntbt"} -xref: ICD10CM:D60.9 {source="Orphanet:98421", source="ORDO:98421/ntbt"} -xref: MedDRA:10038184 {source="Orphanet:98421", source="ORDO:98421/e"} +xref: ICD10CM:D60.0 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} +xref: ICD10CM:D60.1 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} +xref: ICD10CM:D60.8 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} +xref: ICD10CM:D60.9 {source="Orphanet:98421", source="Orphanet:98421/ntbt"} +xref: MedDRA:10038184 {source="Orphanet:98421", source="Orphanet:98421/e"} xref: Orphanet:98421 {source="MONDO:equivalentTo"} xref: UMLS:C0034902 {source="Orphanet:98421", source="MONDO:relatedTo"} -xref: UMLS:C0281963 {source="Orphanet:98421", source="MONDO:notFoundInDiseaseSubset", source="ORDO:98421/e"} +xref: UMLS:C0281963 {source="Orphanet:98421", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98421/e"} is_a: MONDO:0015610 {source="Orphanet:98421"} ! acquired aplastic anemia [Term] @@ -384892,11 +384729,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98428"} synonym: "secondary erythrocytosis" EXACT [Orphanet:98428] synonym: "secondary polycythemia" EXACT [NCIT:C27178] -xref: ICD10CM:D75.1 {source="ORDO:98428/specific", source="ORDO:98428/e", source="Orphanet:98428"} -xref: MedDRA:10036062 {source="ORDO:98428/e", source="Orphanet:98428"} +xref: ICD10CM:D75.1 {source="Orphanet:98428", source="Orphanet:98428/specific", source="Orphanet:98428/e"} +xref: MedDRA:10036062 {source="Orphanet:98428", source="Orphanet:98428/e"} xref: NCIT:C27178 {source="MONDO:equivalentTo"} xref: Orphanet:98428 {source="MONDO:equivalentTo"} -xref: UMLS:C1318533 {source="NCIT:C27178", source="ORDO:98428/e", source="MONDO:equivalentTo", source="Orphanet:98428"} +xref: UMLS:C1318533 {source="NCIT:C27178", source="MONDO:equivalentTo", source="Orphanet:98428", source="Orphanet:98428/e"} is_a: MONDO:0005571 {source="NCIT:C27178/inferred", source="Orphanet:98428", source="Orphanet:98428/inferred"} ! polycythemia relationship: excluded_subClassOf MONDO:0015549 {source="Orphanet:98428"} ! obsolete rare genetic hematologic disease @@ -384920,7 +384757,7 @@ id: MONDO:0020117 name: alpha granule disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98455"} -xref: ICD10CM:D69.1 {source="Orphanet:98455", source="ORDO:98455/attributed", source="ORDO:98455/ntbt"} +xref: ICD10CM:D69.1 {source="Orphanet:98455", source="Orphanet:98455/attributed", source="Orphanet:98455/ntbt"} xref: Orphanet:98455 {source="MONDO:equivalentTo"} xref: UMLS:CN207009 {source="MONDO:equivalentTo"} is_a: MONDO:0016361 {source="Orphanet:98455"} ! isolated hereditary giant platelet disorder @@ -384932,7 +384769,7 @@ name: dense granule disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98456"} synonym: "Delta granule disease" EXACT [Orphanet:98456] -xref: ICD10CM:D69.1 {source="Orphanet:98456", source="ORDO:98456/attributed", source="ORDO:98456/ntbt"} +xref: ICD10CM:D69.1 {source="Orphanet:98456/attributed", source="Orphanet:98456/ntbt", source="Orphanet:98456"} xref: Orphanet:98456 {source="MONDO:equivalentTo"} xref: UMLS:CN207010 {source="MONDO:equivalentTo"} is_a: MONDO:0018795 {source="Orphanet:98456"} ! syndromic constitutional thrombocytopenia @@ -384971,11 +384808,11 @@ synonym: "disease or disorder of skeletal muscle tissue" EXACT [] synonym: "disorder of skeletal muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "skeletal muscle tissue disease" EXACT [MONDO:patterns/location] synonym: "skeletal muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -xref: MedDRA:10028641 {source="ORDO:98472/e", source="Orphanet:98472"} -xref: MESH:D009135 {source="MONDO:relatedTo", source="ORDO:98472/e", source="Orphanet:98472"} +xref: MedDRA:10028641 {source="Orphanet:98472/e", source="Orphanet:98472"} +xref: MESH:D009135 {source="MONDO:relatedTo", source="Orphanet:98472/e", source="Orphanet:98472"} xref: Orphanet:98472 {source="MONDO:equivalentTo"} xref: SCTID:75047002 {source="MONDO:equivalentTo"} -xref: UMLS:C1533847 {source="MONDO:equivalentTo", source="ORDO:98472/e", source="Orphanet:98472"} +xref: UMLS:C1533847 {source="Orphanet:98472/e", source="MONDO:equivalentTo", source="Orphanet:98472"} is_a: MONDO:0005218 ! muscular disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001134 ! skeletal muscle tissue @@ -384990,10 +384827,10 @@ subset: gard_rare {source="GARD:0007922"} subset: ordo_group_of_disorders {source="Orphanet:98473"} xref: DOID:9884 {source="MONDO:equivalentTo"} xref: GARD:0007922 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:equivalentTo", source="ORDO:98473/specific", source="ORDO:98473/e", source="Orphanet:98473", source="DOID:9884"} +xref: ICD10CM:G71.0 {source="Orphanet:98473/e", source="Orphanet:98473/specific", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} xref: ICD9:359.1 {source="DOID:9884"} -xref: MedDRA:10028356 {source="ORDO:98473/e", source="Orphanet:98473"} -xref: MESH:D009136 {source="MONDO:equivalentTo", source="ORDO:98473/e", source="Orphanet:98473", source="DOID:9884"} +xref: MedDRA:10028356 {source="Orphanet:98473/e", source="Orphanet:98473"} +xref: MESH:D009136 {source="Orphanet:98473/e", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} xref: NCIT:C84910 {source="MONDO:equivalentTo", source="DOID:9884"} xref: OMIM:158800 {source="MONDO:superClassOf", source="DOID:9884"} xref: OMIM:159050 {source="MONDO:superClassOf", source="DOID:9884"} @@ -385010,7 +384847,7 @@ xref: SCTID:193257004 {source="DOID:9884"} xref: SCTID:267712004 {source="DOID:9884"} xref: SCTID:44292004 {source="DOID:9884"} xref: SCTID:73297009 {source="MONDO:equivalentTo", source="DOID:9884"} -xref: UMLS:C0026850 {source="NCIT:C84910", source="MONDO:equivalentTo", source="ORDO:98473/e", source="Orphanet:98473", source="DOID:9884"} +xref: UMLS:C0026850 {source="Orphanet:98473/e", source="NCIT:C84910", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} is_a: MONDO:0005336 {source="DOID:9884", source="NCIT:C84910", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0019056 {source="ISBN-13:978-1259644030"} ! neuromuscular disease is_a: MONDO:0020120 {source="Orphanet:98473", source="Orphanet:98473/inferred", source="linkedlifedata"} ! skeletal muscle disorder @@ -385032,7 +384869,7 @@ xref: ICD9:359.79 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C116796 {source="MONDO:subClassOf"} xref: Orphanet:98482 {source="MONDO:equivalentTo"} xref: SCTID:702380008 {source="MONDO:subClassOf"} -xref: UMLS:C0751356 {source="MONDO:subClassOf", source="NCIT:C116796", source="ORDO:98482/e", source="Orphanet:98482"} +xref: UMLS:C0751356 {source="MONDO:subClassOf", source="Orphanet:98482/e", source="NCIT:C116796", source="Orphanet:98482"} is_a: MONDO:0016105 {source="Orphanet:98482"} ! acquired skeletal muscle disease is_a: MONDO:0600023 ! idiopathic inflammatory myopathy relationship: has_modifier MONDO:0700005 ! idiopathic @@ -385044,11 +384881,11 @@ def: "A group of rare inherited disorders characterized by a deficiency of enzym subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98486"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10068836 {source="ORDO:98486/e", source="Orphanet:98486"} +xref: MedDRA:10068836 {source="Orphanet:98486/e", source="Orphanet:98486"} xref: NCIT:C98985 {source="MONDO:equivalentTo"} xref: Orphanet:98486 {source="MONDO:equivalentTo"} xref: SCTID:26111005 {source="MONDO:equivalentTo"} -xref: UMLS:C0270984 {source="MONDO:equivalentTo", source="NCIT:C98985", source="ORDO:98486/e", source="Orphanet:98486"} +xref: UMLS:C0270984 {source="Orphanet:98486/e", source="MONDO:equivalentTo", source="NCIT:C98985", source="Orphanet:98486"} is_a: MONDO:0005336 {source="NCIT:C98985", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0016110 {source="Orphanet:98486"} ! non-dystrophic myopathy @@ -385059,15 +384896,15 @@ def: "Conditions characterized by impaired transmission of impulses at the neuro subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98491"} xref: DOID:439 {source="MONDO:equivalentTo"} -xref: ICD10CM:G70.0 {source="ORDO:98491/ntbt", source="MONDO:superClassOf", source="Orphanet:98491"} -xref: ICD10CM:G70.1 {source="ORDO:98491/ntbt", source="Orphanet:98491"} -xref: ICD10CM:G70.2 {source="ORDO:98491/ntbt", source="Orphanet:98491"} -xref: ICD10CM:G70.8 {source="ORDO:98491/ntbt", source="Orphanet:98491"} -xref: ICD10CM:G70.9 {source="ORDO:98491/ntbt", source="Orphanet:98491"} -xref: MESH:D020511 {source="DOID:439", source="MONDO:equivalentTo", source="ORDO:98491/e", source="Orphanet:98491"} +xref: ICD10CM:G70.0 {source="MONDO:superClassOf", source="Orphanet:98491", source="Orphanet:98491/ntbt"} +xref: ICD10CM:G70.1 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} +xref: ICD10CM:G70.2 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} +xref: ICD10CM:G70.8 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} +xref: ICD10CM:G70.9 {source="Orphanet:98491", source="Orphanet:98491/ntbt"} +xref: MESH:D020511 {source="DOID:439", source="MONDO:equivalentTo", source="Orphanet:98491", source="Orphanet:98491/e"} xref: Orphanet:98491 {source="MONDO:equivalentTo"} xref: SCTID:128213006 {source="DOID:439", source="MONDO:equivalentTo"} -xref: UMLS:C0751950 {source="DOID:439", source="MONDO:equivalentTo", source="ORDO:98491/e", source="Orphanet:98491"} +xref: UMLS:C0751950 {source="DOID:439", source="MONDO:equivalentTo", source="Orphanet:98491", source="Orphanet:98491/e"} is_a: MONDO:0019056 {source="DOID:439", source="MESH:D020511", source="Orphanet:98491"} ! neuromuscular disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_dysfunction_of GO:0031594 ! neuromuscular junction @@ -385128,20 +384965,20 @@ synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location] synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"} xref: EFO:0003782 {source="MONDO:equivalentTo"} -xref: ICD10CM:G12.2 {source="ORDO:98503/e", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231"} +xref: ICD10CM:G12.2 {source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"} xref: ICD10CM:G12.20 {source="DOID:231"} xref: ICD9:335.2 {source="EFO:0003782", source="DOID:231"} xref: ICD9:335.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:335.9 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10028003 {source="ORDO:98503/e", source="Orphanet:98503"} -xref: MESH:D016472 {source="EFO:0003782", source="ORDO:98503/e", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231"} +xref: MedDRA:10028003 {source="Orphanet:98503", source="Orphanet:98503/e"} +xref: MESH:D016472 {source="EFO:0003782", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"} xref: Orphanet:98503 {source="MONDO:equivalentTo"} xref: SCTID:155015007 {source="DOID:231"} xref: SCTID:192888001 {source="DOID:231"} xref: SCTID:192889009 {source="DOID:231"} xref: SCTID:192890000 {source="DOID:231"} xref: SCTID:37340000 {source="EFO:0003782", source="MONDO:equivalentTo", source="DOID:231"} -xref: UMLS:C0085084 {source="ORDO:98503/e", source="Orphanet:98503", source="MONDO:notFoundInDiseaseSubset", source="DOID:231"} +xref: UMLS:C0085084 {source="Orphanet:98503", source="MONDO:notFoundInDiseaseSubset", source="DOID:231", source="Orphanet:98503/e"} xref: UMLS:C0154681 {source="Orphanet:98503", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005559 {source="DOID:231", source="EFO:0003782", source="https://github.com/monarch-initiative/mondo/issues/1588"} ! neurodegenerative disease is_a: MONDO:0019056 {source="MESH:D016472", source="Orphanet:98503"} ! neuromuscular disease @@ -385175,7 +385012,7 @@ id: MONDO:0020131 name: malformation of the cerebellar hemispheres subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98516"} -xref: ICD10CM:Q04.3 {source="ORDO:98516/ntbt", source="Orphanet:98516"} +xref: ICD10CM:Q04.3 {source="Orphanet:98516", source="Orphanet:98516/ntbt"} xref: Orphanet:98516 {source="MONDO:equivalentTo"} is_a: MONDO:0015915 {source="Orphanet:98516"} ! cerebellar malformation @@ -385226,7 +385063,7 @@ synonym: "pontoneocerebellar atrophy" EXACT [Orphanet:98523] synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523] xref: DOID:0060264 {source="MONDO:equivalentTo"} xref: GARD:0010977 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:98523", source="ORDO:98523/attributed", source="ORDO:98523/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:98523", source="Orphanet:98523/attributed", source="Orphanet:98523/ntbt"} xref: MESH:C580383 {source="DOID:0060264", source="MONDO:equivalentTo"} xref: OMIMPS:607596 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98523 {source="MONDO:equivalentTo", source="GARD:0010977"} @@ -385255,7 +385092,7 @@ id: MONDO:0020137 name: obsolete frontotemporal degeneration with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' subset: ordo_group_of_disorders {source="Orphanet:98535"} -xref: ICD10CM:G31.0 {source="Orphanet:98535", source="ORDO:98535/ntbt"} +xref: ICD10CM:G31.0 {source="Orphanet:98535/ntbt", source="Orphanet:98535"} xref: Orphanet:98535 {source="MONDO:obsoleteEquivalent"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3886 property_value: IAO:0000231 "out of scope" xsd:string @@ -385370,9 +385207,9 @@ id: MONDO:0020147 name: anophthalmia-microphthalmia syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98555"} -xref: ICD10CM:Q11.0 {source="Orphanet:98555", source="ORDO:98555/specific", source="ORDO:98555/btnt"} -xref: ICD10CM:Q11.1 {source="Orphanet:98555", source="ORDO:98555/specific", source="ORDO:98555/btnt"} -xref: ICD10CM:Q11.2 {source="Orphanet:98555", source="ORDO:98555/specific", source="ORDO:98555/btnt"} +xref: ICD10CM:Q11.0 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} +xref: ICD10CM:Q11.1 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} +xref: ICD10CM:Q11.2 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} xref: Orphanet:98555 {source="MONDO:equivalentTo"} xref: UMLS:CN120488 {source="MONDO:equivalentTo"} is_a: MONDO:0020146 {source="Orphanet:98555"} ! major induction processes eye anomaly @@ -385464,7 +385301,7 @@ id: MONDO:0020154 name: microblepharon-ablephara syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98563"} -xref: ICD10CM:Q10.3 {source="ORDO:98563/attributed", source="ORDO:98563/ntbt", source="Orphanet:98563"} +xref: ICD10CM:Q10.3 {source="Orphanet:98563/attributed", source="Orphanet:98563/ntbt", source="Orphanet:98563"} xref: Orphanet:98563 {source="MONDO:equivalentTo"} xref: UMLS:CN237783 {source="MONDO:equivalentTo"} is_a: MONDO:0003382 {source="MONDO:0020152-obsoleted"} ! eyelid disorder @@ -385513,11 +385350,11 @@ id: MONDO:0020159 name: congenital entropion subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98568"} -xref: ICD10CM:Q10.2 {source="ORDO:98568/e", source="ORDO:98568/specific", source="Orphanet:98568", source="MONDO:equivalentTo"} -xref: MedDRA:10014923 {source="ORDO:98568/e", source="Orphanet:98568"} +xref: ICD10CM:Q10.2 {source="Orphanet:98568", source="MONDO:equivalentTo", source="Orphanet:98568/specific", source="Orphanet:98568/e"} +xref: MedDRA:10014923 {source="Orphanet:98568", source="Orphanet:98568/e"} xref: Orphanet:98568 {source="MONDO:equivalentTo"} xref: SCTID:20392000 {source="MONDO:equivalentTo"} -xref: UMLS:C0266579 {source="ORDO:98568/e", source="Orphanet:98568", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266579 {source="Orphanet:98568", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98568/e"} is_a: MONDO:0001519 {source="MONDO:cjm", source="linkedlifedata"} ! entropion is_a: MONDO:0020158 {source="Orphanet:98568"} ! eyelids malposition disorder relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -385528,7 +385365,7 @@ id: MONDO:0020160 name: secondary entropion subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98569"} -xref: ICD10CM:H02.0 {source="Orphanet:98569", source="ORDO:98569/attributed", source="ORDO:98569/ntbt"} +xref: ICD10CM:H02.0 {source="Orphanet:98569/attributed", source="Orphanet:98569/ntbt", source="Orphanet:98569"} xref: Orphanet:98569 {source="MONDO:equivalentTo"} is_a: MONDO:0020159 {source="Orphanet:98569"} ! congenital entropion @@ -385537,10 +385374,10 @@ id: MONDO:0020161 name: congenital ectropion subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98570"} -xref: ICD10CM:Q10.1 {source="MONDO:equivalentTo", source="ORDO:98570/e", source="Orphanet:98570", source="ORDO:98570/specific"} +xref: ICD10CM:Q10.1 {source="Orphanet:98570/e", source="Orphanet:98570/specific", source="MONDO:equivalentTo", source="Orphanet:98570"} xref: Orphanet:98570 {source="MONDO:equivalentTo"} xref: SCTID:26590002 {source="MONDO:equivalentTo"} -xref: UMLS:C0266578 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98570/e", source="Orphanet:98570"} +xref: UMLS:C0266578 {source="Orphanet:98570/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98570"} is_a: MONDO:0002043 {source="MONDO:cjm", source="linkedlifedata"} ! ectropion is_a: MONDO:0020158 {source="Orphanet:98570"} ! eyelids malposition disorder relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -385551,7 +385388,7 @@ id: MONDO:0020162 name: secondary ectropion subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98571"} -xref: ICD10CM:H02.1 {source="ORDO:98571/attributed", source="ORDO:98571/ntbt", source="Orphanet:98571"} +xref: ICD10CM:H02.1 {source="Orphanet:98571/attributed", source="Orphanet:98571/ntbt", source="Orphanet:98571"} xref: Orphanet:98571 {source="MONDO:equivalentTo"} is_a: MONDO:0020158 {source="Orphanet:98571"} ! eyelids malposition disorder @@ -385570,7 +385407,7 @@ id: MONDO:0020164 name: epicanthal fold subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98573"} -xref: ICD10CM:Q10.3 {source="ORDO:98573/ntbt", source="ORDO:98573/index", source="Orphanet:98573"} +xref: ICD10CM:Q10.3 {source="Orphanet:98573/index", source="Orphanet:98573/ntbt", source="Orphanet:98573"} xref: Orphanet:98573 {source="MONDO:equivalentTo"} is_a: MONDO:0020163 {source="MONDO:Redundant", source="Orphanet:98573"} ! canthal anomaly intersection_of: MONDO:0020163 ! canthal anomaly @@ -385598,7 +385435,7 @@ id: MONDO:0020167 name: malposition of external canthus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98576"} -xref: ICD10CM:Q10.3 {source="Orphanet:98576", source="ORDO:98576/attributed", source="ORDO:98576/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:98576", source="Orphanet:98576/attributed", source="Orphanet:98576/ntbt"} xref: Orphanet:98576 {source="MONDO:equivalentTo"} is_a: MONDO:0020163 {source="Orphanet:98576"} ! canthal anomaly @@ -385622,17 +385459,17 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: MedDRA:10015995 {source="ORDO:98578/e", source="Orphanet:98578"} -consider: MedDRA:10037272 {source="ORDO:98578/e", source="Orphanet:98578"} -consider: MESH:D001763 {source="ORDO:98578/e", source="Orphanet:98578", source="MONDO:relatedTo"} -consider: UMLS:C0005745 {source="ORDO:98578/e", source="Orphanet:98578", source="MONDO:relatedTo"} -consider: UMLS:C0033377 {source="ORDO:98578/e", source="Orphanet:98578", source="MONDO:relatedTo"} +consider: MedDRA:10015995 {source="Orphanet:98578", source="Orphanet:98578/e"} +consider: MedDRA:10037272 {source="Orphanet:98578", source="Orphanet:98578/e"} +consider: MESH:D001763 {source="Orphanet:98578", source="MONDO:relatedTo", source="Orphanet:98578/e"} +consider: UMLS:C0005745 {source="Orphanet:98578", source="MONDO:relatedTo", source="Orphanet:98578/e"} +consider: UMLS:C0033377 {source="Orphanet:98578", source="MONDO:relatedTo", source="Orphanet:98578/e"} [Term] id: MONDO:0020170 name: obsolete congenital upper palpebral retraction comment: Obsolete in Orphanet -xref: ICD10CM:H02.5 {source="Orphanet:98579", source="ORDO:98579/attributed", source="ORDO:98579/ntbt"} +xref: ICD10CM:H02.5 {source="Orphanet:98579/attributed", source="Orphanet:98579/ntbt", source="Orphanet:98579"} xref: Orphanet:98579 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0003382 @@ -385757,7 +385594,7 @@ synonym: "skin of eyelid melanocytic nevus" EXACT [MONDO:patterns/location] xref: NCIT:C3880 {source="MONDO:equivalentTo"} xref: Orphanet:98588 {source="MONDO:equivalentTo"} xref: SCTID:231827008 {source="MONDO:equivalentTo"} -xref: UMLS:C0239460 {source="Orphanet:98588", source="NCIT:C3880", source="MONDO:equivalentTo", source="ORDO:98588/e"} +xref: UMLS:C0239460 {source="Orphanet:98588", source="NCIT:C3880", source="MONDO:equivalentTo", source="Orphanet:98588/e"} is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C3880", source="Orphanet:98588/inferred", source="linkedlifedata/inferred"} ! eyelid neoplasm is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3880", source="indirect", source="linkedlifedata"} ! melanocytic nevus is_a: MONDO:0020177 {source="Orphanet:98588"} ! pigmented palpebral tumor @@ -385823,7 +385660,7 @@ id: MONDO:0020185 name: obsolete eyebrow/eyelashes hypertrichosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98595"} -xref: ICD10CM:L68.2 {source="ORDO:98595/attributed", source="ORDO:98595/ntbt", source="Orphanet:98595"} +xref: ICD10CM:L68.2 {source="Orphanet:98595/attributed", source="Orphanet:98595/ntbt", source="Orphanet:98595"} xref: Orphanet:98595 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1501 xsd:anyURI is_obsolete: true @@ -385993,7 +385830,7 @@ comment: Obsolete in Orphanet synonym: "conjunctival telangiectasia" EXACT [MONDO:ambiguous] synonym: "obsolete conjunctival telangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000524 {source="MONDO:otherHierarchy"} -xref: MedDRA:10072143 {source="ORDO:98613/e", source="Orphanet:98613"} +xref: MedDRA:10072143 {source="Orphanet:98613", source="Orphanet:98613/e"} xref: Orphanet:98613 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0239105 {source="MONDO:obsoleteEquivalent", source="Orphanet:98613"} property_value: IAO:0000589 "obsolete conjunctival telangiectasia (disease)" xsd:string @@ -386007,7 +385844,7 @@ comment: Obsolete in Orphanet xref: ICD9:372.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98614 {source="MONDO:obsoleteEquivalent"} xref: SCTID:231871007 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0339186 {source="ORDO:98614/e", source="MONDO:obsoleteEquivalent", source="Orphanet:98614"} +xref: UMLS:C0339186 {source="MONDO:obsoleteEquivalent", source="Orphanet:98614", source="Orphanet:98614/e"} is_obsolete: true consider: MONDO:0006170 @@ -386077,9 +385914,9 @@ xref: UMLS:CN924920 {source="MONDO:obsoleteEquivalent", source="MONDO:notFoundIn property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI is_obsolete: true replaced_by: MONDO:0001384 -consider: OMIM:608908 {source="ORDO:98619/btnt", source="MONDO:superClassOf", source="Orphanet:98619"} -consider: OMIM:614292 {source="ORDO:98619/btnt", source="MONDO:superClassOf", source="Orphanet:98619"} -consider: OMIM:615431 {source="ORDO:98619/btnt", source="MONDO:superClassOf", source="Orphanet:98619"} +consider: OMIM:608908 {source="MONDO:superClassOf", source="Orphanet:98619", source="Orphanet:98619/btnt"} +consider: OMIM:614292 {source="MONDO:superClassOf", source="Orphanet:98619", source="Orphanet:98619/btnt"} +consider: OMIM:615431 {source="MONDO:superClassOf", source="Orphanet:98619", source="Orphanet:98619/btnt"} consider: UMLS:C0027092 {source="MONDO:relatedTo", source="Orphanet:98619"} [Term] @@ -386146,11 +385983,11 @@ subset: ordo_group_of_disorders {source="Orphanet:98625"} synonym: "anterior corneal dystrophy" EXACT [Orphanet:98625] synonym: "corneal epithelium corneal dystrophy (disease)" EXACT [MONDO:patterns/location] synonym: "dystrophy of anterior cornea" EXACT [] -xref: ICD10CM:H18.5 {source="Orphanet:98625", source="ORDO:98625/attributed", source="ORDO:98625/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98625", source="Orphanet:98625/attributed", source="Orphanet:98625/ntbt"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98625 {source="MONDO:equivalentTo"} xref: SCTID:430888006 {source="MONDO:equivalentTo"} -xref: UMLS:C2315777 {source="ORDO:98625/e", source="MONDO:equivalentTo", source="Orphanet:98625"} +xref: UMLS:C2315777 {source="MONDO:equivalentTo", source="Orphanet:98625", source="Orphanet:98625/e"} is_a: MONDO:0018102 {source="MONDO:Entailed", source="Orphanet:98625", source="linkedlifedata"} ! corneal dystrophy [Term] @@ -386164,11 +386001,11 @@ synonym: "corneal stromal dystrophy" EXACT [MONDO:0000765] synonym: "stromal dystrophy" RELATED [DOID:0060442] synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO:patterns/location] xref: DOID:0060442 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="ORDO:98626/attributed", source="ORDO:98626/ntbt", source="Orphanet:98626"} +xref: ICD10CM:H18.5 {source="Orphanet:98626", source="Orphanet:98626/attributed", source="Orphanet:98626/ntbt"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98626 {source="MONDO:equivalentTo"} xref: SCTID:231931001 {source="MONDO:equivalentTo"} -xref: UMLS:C0038457 {source="ORDO:98626/e", source="MONDO:equivalentTo", source="Orphanet:98626"} +xref: UMLS:C0038457 {source="MONDO:equivalentTo", source="Orphanet:98626", source="Orphanet:98626/e"} is_a: MONDO:0018102 {source="DOID:0060442", source="MONDO:Redundant", source="Orphanet:98626", source="linkedlifedata"} ! corneal dystrophy intersection_of: MONDO:0018102 ! corneal dystrophy intersection_of: disease_has_location UBERON:0001777 ! substantia propria of cornea @@ -386179,7 +386016,7 @@ name: posterior corneal dystrophy def: "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." [Orphanet:98627] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98627"} -xref: ICD10CM:H18.5 {source="ORDO:98627/attributed", source="ORDO:98627/ntbt", source="Orphanet:98627"} +xref: ICD10CM:H18.5 {source="Orphanet:98627", source="Orphanet:98627/attributed", source="Orphanet:98627/ntbt"} xref: ICD9:371.58 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98627 {source="MONDO:equivalentTo"} xref: SCTID:35091000119101 {source="MONDO:equivalentTo"} @@ -386233,7 +386070,7 @@ subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98633"} xref: Orphanet:98633 {source="MONDO:equivalentTo"} xref: SCTID:251730004 {source="MONDO:equivalentTo"} -xref: UMLS:C0311237 {source="ORDO:98633/e", source="Orphanet:98633", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0311237 {source="Orphanet:98633", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98633/e"} is_a: MONDO:0020216 {source="Orphanet:98633"} ! secondary dysgenetic glaucoma relationship: disease_has_location UBERON:0001801 ! anterior segment of eyeball relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4397 @@ -386341,7 +386178,7 @@ comment: This is a grouping class that is considered out of scope. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98643"} xref: Orphanet:98643 {source="MONDO:obsoleteEquivalent"} -xref: UMLS:C0339369 {source="Orphanet:98643", source="MONDO:obsoleteEquivalent", source="ORDO:98643/e"} +xref: UMLS:C0339369 {source="Orphanet:98643", source="MONDO:obsoleteEquivalent", source="Orphanet:98643/e"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3612 property_value: IAO:0000231 "out of scope" xsd:string is_obsolete: true @@ -386445,7 +386282,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98653"} synonym: "ectopia lentis" EXACT [NCIT:C125484] xref: HP:0001083 -xref: ICD10CM:Q12.1 {source="Orphanet:98653", source="ORDO:98653/attributed", source="ORDO:98653/ntbt"} +xref: ICD10CM:Q12.1 {source="Orphanet:98653", source="Orphanet:98653/attributed", source="Orphanet:98653/ntbt"} xref: NCIT:C125484 {source="MONDO:equivalentTo"} xref: Orphanet:98653 {source="MONDO:equivalentTo"} is_a: MONDO:0001176 {source="NCIT:C125484"} ! lens disorder @@ -386514,7 +386351,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98664"} synonym: "genetic macular dystrophy" EXACT [] synonym: "genetic macular dystrophy (disease)" EXACT [MONDO:patterns/genetic] -xref: ICD10CM:H35.5 {source="Orphanet:98664", source="ORDO:98664/attributed", source="ORDO:98664/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:H35.5 {source="Orphanet:98664", source="Orphanet:98664/attributed", source="Orphanet:98664/ntbt", source="MONDO:directSiblingOf"} xref: NCIT:C140264 {source="MONDO:equivalentTo"} xref: Orphanet:98664 {source="MONDO:equivalentTo"} xref: SCTID:276436007 {source="MONDO:equivalentTo"} @@ -386571,7 +386408,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98669"} synonym: "vitreoretinal dysplasia" EXACT [] -xref: ICD10CM:Q14.1 {source="Orphanet:98669", source="ORDO:98669/attributed", source="ORDO:98669/ntbt"} +xref: ICD10CM:Q14.1 {source="Orphanet:98669", source="Orphanet:98669/attributed", source="Orphanet:98669/ntbt"} xref: ICD9:743.56 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98669 {source="MONDO:equivalentTo"} xref: SCTID:449866003 {source="MONDO:equivalentTo"} @@ -386592,10 +386429,10 @@ subset: ordo_group_of_disorders {source="Orphanet:98670"} synonym: "degenerative vitreoretinopathy" EXACT [HP:0007964] xref: GARD:0005506 {source="MONDO:equivalentTo"} xref: HP:0007964 -xref: ICD10CM:H35.5 {source="ORDO:98670/inclusion", source="MONDO:relatedTo", source="ORDO:98670/ntbt", source="Orphanet:98670"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:98670/inclusion", source="Orphanet:98670/ntbt", source="Orphanet:98670"} xref: Orphanet:98670 {source="MONDO:equivalentObsolete"} xref: SCTID:247182006 {source="MONDO:equivalentTo"} -xref: UMLS:C0344290 {source="MONDO:equivalentTo", source="ORDO:98670/e", source="Orphanet:98670"} +xref: UMLS:C0344290 {source="Orphanet:98670/e", source="MONDO:equivalentTo", source="Orphanet:98670"} is_a: MONDO:0001377 {source="linkedlifedata"} ! vitreous syneresis is_a: MONDO:0020246 {source="Orphanet:98670"} ! inherited vitreoretinopathy relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4407 @@ -386608,7 +386445,7 @@ id: MONDO:0020249 name: hereditary optic neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98671"} -xref: MedDRA:10061323 {source="ORDO:98671/e", source="Orphanet:98671"} +xref: MedDRA:10061323 {source="Orphanet:98671/e", source="Orphanet:98671"} xref: Orphanet:98671 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="Orphanet:98671"} ! eye disorder relationship: has_modifier MONDO:0021136 {source="MONDO:0015107"} ! rare @@ -386624,12 +386461,12 @@ synonym: "DOA" EXACT ABBREVIATION [Orphanet:98672] synonym: "dominant optic atrophy" RELATED [GARD:0011972] synonym: "optic atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:0011972 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="ORDO:98672/attributed", source="ORDO:98672/ntbt", source="Orphanet:98672"} -xref: MESH:D029241 {source="MONDO:equivalentTo", source="ORDO:98672/e", source="Orphanet:98672"} +xref: ICD10CM:H47.2 {source="MONDO:subClassOf", source="Orphanet:98672/attributed", source="Orphanet:98672/ntbt", source="Orphanet:98672"} +xref: MESH:D029241 {source="Orphanet:98672/e", source="MONDO:equivalentTo", source="Orphanet:98672"} xref: NCIT:C84577 {source="MONDO:equivalentTo"} xref: Orphanet:98672 {source="MONDO:equivalentTo"} xref: SCTID:2065009 {source="MONDO:equivalentTo"} -xref: UMLS:C0338508 {source="MONDO:equivalentTo", source="ORDO:98672/e", source="NCIT:C84577", source="Orphanet:98672"} +xref: UMLS:C0338508 {source="Orphanet:98672/e", source="MONDO:equivalentTo", source="NCIT:C84577", source="Orphanet:98672"} is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0020249 {source="MESH:D029241/inferred", source="MONDO:Entailed", source="NCIT:C84577/inferred", source="OWLReasoner:2017", source="Orphanet:98672", source="Orphanet:98672/inferred", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! hereditary optic neuropathy is_a: MONDO:0043878 {source="MESH:D029241", source="MONDO:Redundant", source="NCIT:C84577", source="linkedlifedata"} ! hereditary optic atrophy @@ -386690,7 +386527,7 @@ subset: ordo_disease {source="Orphanet:98686"} synonym: "congenital CNIV palsy" EXACT [Orphanet:98686] synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686] synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686] -xref: ICD10CM:H49.1 {source="Orphanet:98686", source="ORDO:98686/attributed", source="ORDO:98686/ntbt"} +xref: ICD10CM:H49.1 {source="Orphanet:98686", source="Orphanet:98686/attributed", source="Orphanet:98686/ntbt"} xref: Orphanet:98686 {source="MONDO:equivalentTo"} is_a: MONDO:0001146 {source="MONDO:cjm"} ! fourth cranial nerve palsy relationship: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686"} ! nuclear oculomotor paralysis @@ -386887,7 +386724,7 @@ name: oculocutaneous or ocular albinism def: "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." [MONDO:cjm, Wikipedia:Albinism] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98706"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:98706/e", source="Orphanet:98706", source="ORDO:98706/specific"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:98706/e", source="Orphanet:98706/specific", source="Orphanet:98706"} xref: Orphanet:98706 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0043209 {source="MONDO:cjm"} ! albinism @@ -386987,8 +386824,8 @@ xref: DOID:13141 {source="EFO:1001231", source="MONDO:equivalentTo"} xref: EFO:1001231 {source="MONDO:equivalentTo"} xref: HP:0000554 {source="MONDO:otherHierarchy"} xref: ICD10CM:H20.9 {source="DOID:13141"} -xref: MedDRA:10046851 {source="EFO:1001231", source="ORDO:98715/e", source="Orphanet:98715"} -xref: MESH:D014605 {source="EFO:1001231", source="ORDO:98715/e", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715"} +xref: MedDRA:10046851 {source="EFO:1001231", source="Orphanet:98715", source="Orphanet:98715/e"} +xref: MESH:D014605 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715", source="Orphanet:98715/e"} xref: NCIT:C26909 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"} xref: Orphanet:98715 {source="MONDO:equivalentTo"} xref: SCTID:128473001 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"} @@ -386996,7 +386833,7 @@ xref: SCTID:155116005 {source="DOID:13141"} xref: SCTID:193499001 {source="DOID:13141"} xref: SCTID:267719008 {source="DOID:13141"} xref: SCTID:75614007 {source="DOID:13141", source="MONDO:superClassOf"} -xref: UMLS:C0042164 {source="ORDO:98715/e", source="NCIT:C26909", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715"} +xref: UMLS:C0042164 {source="NCIT:C26909", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715", source="Orphanet:98715/e"} is_a: MONDO:0002661 {source="DOID:13141", source="MESH:D014605", source="MONDO:Redundant", source="NCIT:C26909/inferred", source="linkedlifedata"} ! uveal disorder is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease @@ -387062,10 +386899,10 @@ name: congenital tricuspid malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98721"} xref: HP:0001702 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q22.4 {source="Orphanet:98721", source="MONDO:superClassOf", source="ORDO:98721/btnt"} -xref: ICD10CM:Q22.5 {source="Orphanet:98721", source="ORDO:98721/btnt"} -xref: ICD10CM:Q22.8 {source="Orphanet:98721", source="ORDO:98721/btnt"} -xref: ICD10CM:Q22.9 {source="Orphanet:98721", source="ORDO:98721/btnt"} +xref: ICD10CM:Q22.4 {source="Orphanet:98721", source="Orphanet:98721/btnt", source="MONDO:superClassOf"} +xref: ICD10CM:Q22.5 {source="Orphanet:98721", source="Orphanet:98721/btnt"} +xref: ICD10CM:Q22.8 {source="Orphanet:98721", source="Orphanet:98721/btnt"} +xref: ICD10CM:Q22.9 {source="Orphanet:98721", source="Orphanet:98721/btnt"} xref: Orphanet:98721 {source="MONDO:equivalentTo"} is_a: MONDO:0020288 {source="MONDO:Redundant", source="Orphanet:98721"} ! atrioventricular valve anomaly intersection_of: MONDO:0000001 ! disease or disorder @@ -387092,18 +386929,18 @@ synonym: "ECD" EXACT ABBREVIATION [DOID:0050651] synonym: "endocardial cushion defect" EXACT [DOID:0050651] xref: DOID:0050651 {source="MONDO:equivalentTo"} xref: GARD:0000802 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.2 {source="ORDO:98722/e", source="DOID:0050651", source="Orphanet:98722"} +xref: ICD10CM:Q21.2 {source="DOID:0050651", source="Orphanet:98722", source="Orphanet:98722/e"} xref: ICD9:745.6 {source="DOID:0050651"} xref: ICD9:745.60 {source="DOID:0050651", source="MONDO:equivalentTo", source="i2s"} xref: ICD9:745.69 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D004694 {source="DOID:0050651"} xref: NCIT:C101029 {source="MONDO:equivalentTo"} -xref: OMIM:600309 {source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf", source="ORDO:98722/btnt"} -xref: OMIM:606215 {source="ORDO:98722/e", source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf"} -xref: OMIM:606217 {source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf", source="ORDO:98722/btnt"} -xref: OMIM:614430 {source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf", source="ORDO:98722/btnt"} -xref: OMIM:614474 {source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf", source="ORDO:98722/btnt"} -xref: OMIM:615779 {source="Orphanet:98722", source="MONDO:superClassOf", source="ORDO:98722/btnt"} +xref: OMIM:600309 {source="Orphanet:98722/btnt", source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf"} +xref: OMIM:606215 {source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf", source="Orphanet:98722/e"} +xref: OMIM:606217 {source="Orphanet:98722/btnt", source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf"} +xref: OMIM:614430 {source="Orphanet:98722/btnt", source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf"} +xref: OMIM:614474 {source="Orphanet:98722/btnt", source="DOID:0050651", source="Orphanet:98722", source="MONDO:superClassOf"} +xref: OMIM:615779 {source="Orphanet:98722/btnt", source="Orphanet:98722", source="MONDO:superClassOf"} xref: OMIMPS:606215 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="DOID:0050651", source="MONDO:equivalentTo"} xref: SCTID:15459006 {source="DOID:0050651", source="MONDO:equivalentTo"} @@ -387130,15 +386967,15 @@ subset: ordo_group_of_disorders {source="Orphanet:98723"} synonym: "right hypoplastic heart syndrome" EXACT [NCIT:C99053] xref: DOID:0070315 {source="MONDO:equivalentTo"} xref: GARD:0002922 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q22.6 {source="ORDO:98723/e", source="Orphanet:98723", source="MONDO:equivalentTo"} +xref: ICD10CM:Q22.6 {source="Orphanet:98723", source="MONDO:equivalentTo", source="Orphanet:98723/e"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10050053 {source="ORDO:98723/e", source="Orphanet:98723"} -xref: MedDRA:10064962 {source="ORDO:98723/e", source="Orphanet:98723"} +xref: MedDRA:10050053 {source="Orphanet:98723", source="Orphanet:98723/e"} +xref: MedDRA:10064962 {source="Orphanet:98723", source="Orphanet:98723/e"} xref: NCIT:C99053 {source="MONDO:equivalentTo"} xref: Orphanet:98723 {source="MONDO:equivalentTo"} xref: SCTID:268180007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265856 {source="ORDO:98723/e", source="Orphanet:98723", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C0344963 {source="ORDO:98723/e", source="Orphanet:98723", source="NCIT:C99053", source="MONDO:equivalentTo"} +xref: UMLS:C0265856 {source="Orphanet:98723", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98723/e"} +xref: UMLS:C0344963 {source="Orphanet:98723", source="NCIT:C99053", source="MONDO:equivalentTo", source="Orphanet:98723/e"} is_a: MONDO:0002254 {source="NCIT:C99053"} ! syndromic disease is_a: MONDO:0019820 {source="Orphanet:98723"} ! univentricular cardiopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome xsd:anyURI {source="GARD:0002922"} @@ -387149,9 +386986,9 @@ name: congenital anomaly of the great arteries subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98724"} synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [Orphanet:98724] -xref: MedDRA:10061080 {source="ORDO:98724/e", source="Orphanet:98724"} +xref: MedDRA:10061080 {source="Orphanet:98724", source="Orphanet:98724/e"} xref: Orphanet:98724 {source="MONDO:equivalentTo"} -xref: UMLS:C0948632 {source="ORDO:98724/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98724"} +xref: UMLS:C0948632 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98724", source="Orphanet:98724/e"} is_a: MONDO:0019063 {source="MONDO:0018723-obsoleted"} ! vascular anomaly is_a: MONDO:0019512 {source="Orphanet:98724"} ! congenital heart malformation relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -387162,9 +386999,9 @@ id: MONDO:0020293 name: ascending aorta anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98725"} -xref: ICD10CM:Q25.4 {source="ORDO:98725/ntbt", source="Orphanet:98725"} +xref: ICD10CM:Q25.4 {source="Orphanet:98725", source="Orphanet:98725/ntbt"} xref: Orphanet:98725 {source="MONDO:equivalentTo"} -xref: UMLS:C0345043 {source="ORDO:98725/e", source="Orphanet:98725", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0345043 {source="Orphanet:98725", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98725/e"} is_a: MONDO:0020292 {source="Orphanet:98725"} ! congenital anomaly of the great arteries [Term] @@ -387174,7 +387011,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98727"} synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727] synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727] -xref: ICD10CM:Q21.1 {source="ORDO:98727/ntbt", source="Orphanet:98727"} +xref: ICD10CM:Q21.1 {source="Orphanet:98727", source="Orphanet:98727/ntbt"} xref: Orphanet:98727 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="Orphanet:98727"} ! congenital heart malformation @@ -387201,12 +387038,12 @@ name: congenital arteriovenous fistula def: "An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth." [NCIT:C35377] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98731"} -xref: MedDRA:10003226 {source="Orphanet:98731", source="ORDO:98731/e"} -xref: MESH:D001164 {source="Orphanet:98731", source="MONDO:equivalentTo", source="ORDO:98731/e"} +xref: MedDRA:10003226 {source="Orphanet:98731", source="Orphanet:98731/e"} +xref: MESH:D001164 {source="Orphanet:98731", source="MONDO:equivalentTo", source="Orphanet:98731/e"} xref: NCIT:C35377 {source="MONDO:equivalentTo"} xref: Orphanet:98731 {source="MONDO:equivalentTo"} xref: SCTID:234148007 {source="MONDO:equivalentTo"} -xref: UMLS:C0003855 {source="Orphanet:98731", source="MONDO:notFoundInDiseaseSubset", source="ORDO:98731/e"} +xref: UMLS:C0003855 {source="Orphanet:98731", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98731/e"} xref: UMLS:C0332965 {source="NCIT:C35377", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016230 {source="Orphanet:98731"} ! simple vascular malformation is_a: MONDO:0024239 {source="NCIT:C35377", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system @@ -387233,7 +387070,7 @@ name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 subset: ordo_etiological_subtype {source="Orphanet:98754"} synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98754] synonym: "UPD(15)mat" EXACT [Orphanet:98754] -xref: ICD10CM:Q87.1 {source="Orphanet:98754", source="ORDO:98754/attributed", source="ORDO:98754/ntbt"} +xref: ICD10CM:Q87.1 {source="Orphanet:98754", source="Orphanet:98754/attributed", source="Orphanet:98754/ntbt"} xref: Orphanet:98754 {source="MONDO:equivalentTo"} xref: UMLS:CN207093 {source="MONDO:equivalentTo"} is_a: MONDO:0008300 {source="Orphanet:98754"} ! Prader-Willi syndrome @@ -387257,11 +387094,11 @@ xref: DOID:0060681 {source="MONDO:equivalentTo"} xref: GARD:0011918 {source="MONDO:equivalentTo"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C579932 {source="MONDO:equivalentTo"} -xref: OMIM:600513 {source="Orphanet:98784", source="MONDO:superClassOf", source="ORDO:98784/btnt"} -xref: OMIM:603204 {source="Orphanet:98784", source="MONDO:superClassOf", source="ORDO:98784/btnt"} -xref: OMIM:605375 {source="Orphanet:98784", source="MONDO:superClassOf", source="ORDO:98784/btnt"} -xref: OMIM:610353 {source="Orphanet:98784", source="MONDO:superClassOf", source="ORDO:98784/btnt"} -xref: OMIM:615005 {source="Orphanet:98784", source="MONDO:superClassOf", source="ORDO:98784/btnt"} +xref: OMIM:600513 {source="Orphanet:98784", source="Orphanet:98784/btnt", source="MONDO:superClassOf"} +xref: OMIM:603204 {source="Orphanet:98784", source="Orphanet:98784/btnt", source="MONDO:superClassOf"} +xref: OMIM:605375 {source="Orphanet:98784", source="Orphanet:98784/btnt", source="MONDO:superClassOf"} +xref: OMIM:610353 {source="Orphanet:98784", source="Orphanet:98784/btnt", source="MONDO:superClassOf"} +xref: OMIM:615005 {source="Orphanet:98784", source="Orphanet:98784/btnt", source="MONDO:superClassOf"} xref: Orphanet:98784 {source="DOID:0060681", source="MONDO:equivalentTo"} xref: SCTID:698021005 {source="MONDO:equivalentTo"} xref: UMLS:C3696898 {source="Orphanet:98784", source="MONDO:equivalentTo"} @@ -387272,7 +387109,7 @@ is_a: MONDO:0017704 {source="Orphanet:98784"} ! familial partial epilepsy id: MONDO:0020301 name: Prader-Willi syndrome due to paternal 15q11q13 deletion subset: ordo_etiological_subtype {source="Orphanet:98793"} -xref: ICD10CM:Q87.1 {source="ORDO:98793/attributed", source="ORDO:98793/ntbt", source="Orphanet:98793"} +xref: ICD10CM:Q87.1 {source="Orphanet:98793/attributed", source="Orphanet:98793/ntbt", source="Orphanet:98793"} xref: Orphanet:98793 {source="MONDO:equivalentTo"} xref: UMLS:CN207115 {source="MONDO:equivalentTo"} is_a: MONDO:0008300 {source="Orphanet:98793"} ! Prader-Willi syndrome @@ -387285,7 +387122,7 @@ id: MONDO:0020302 name: Angelman syndrome due to maternal 15q11q13 deletion subset: ordo_etiological_subtype {source="Orphanet:98794"} synonym: "Angelman syndrome due to maternal monosomy 15q11q13" EXACT [Orphanet:98794] -xref: ICD10CM:Q93.5 {source="ORDO:98794/attributed", source="ORDO:98794/ntbt", source="Orphanet:98794"} +xref: ICD10CM:Q93.5 {source="Orphanet:98794/attributed", source="Orphanet:98794/ntbt", source="Orphanet:98794"} xref: Orphanet:98794 {source="MONDO:equivalentTo"} xref: UMLS:CN207116 {source="MONDO:equivalentTo"} is_a: MONDO:0007113 {source="Orphanet:98794"} ! Angelman syndrome @@ -387299,7 +387136,7 @@ name: Angelman syndrome due to paternal uniparental disomy of chromosome 15 subset: ordo_etiological_subtype {source="Orphanet:98795"} synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98795] synonym: "UPD(15)pat" EXACT [Orphanet:98795] -xref: ICD10CM:Q93.5 {source="Orphanet:98795", source="ORDO:98795/attributed", source="ORDO:98795/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:98795", source="Orphanet:98795/attributed", source="Orphanet:98795/ntbt"} xref: Orphanet:98795 {source="MONDO:equivalentTo"} xref: UMLS:CN207117 {source="MONDO:equivalentTo"} is_a: MONDO:0007113 {source="Orphanet:98795"} ! Angelman syndrome @@ -387311,7 +387148,7 @@ id: MONDO:0020304 name: isochromosomy Yp def: "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." [Orphanet:98797] subset: ordo_malformation_syndrome {source="Orphanet:98797"} -xref: ICD10CM:Q98.6 {source="Orphanet:98797", source="ORDO:98797/attributed", source="ORDO:98797/ntbt"} +xref: ICD10CM:Q98.6 {source="Orphanet:98797/attributed", source="Orphanet:98797/ntbt", source="Orphanet:98797"} xref: Orphanet:98797 {source="MONDO:equivalentTo"} xref: SCTID:766708008 {source="MONDO:equivalentTo"} is_a: MONDO:0019935 {source="Orphanet:98797"} ! isochromosome Y @@ -387321,7 +387158,7 @@ id: MONDO:0020305 name: isochromosomy Yq def: "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." [Orphanet:98798] subset: ordo_malformation_syndrome {source="Orphanet:98798"} -xref: ICD10CM:Q98.6 {source="Orphanet:98798", source="ORDO:98798/attributed", source="ORDO:98798/ntbt"} +xref: ICD10CM:Q98.6 {source="Orphanet:98798", source="Orphanet:98798/attributed", source="Orphanet:98798/ntbt"} xref: Orphanet:98798 {source="MONDO:equivalentTo"} is_a: MONDO:0019935 {source="Orphanet:98798"} ! isochromosome Y @@ -387335,11 +387172,11 @@ synonym: "polydactyly with absent tibia" RELATED [GARD:0008309] synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" RELATED [Orphanet:988] xref: DOID:0111564 {source="MONDO:subClassOf"} xref: GARD:0008309 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q87.2 {source="Orphanet:988", source="ORDO:988/attributed", source="ORDO:988/ntbt"} -xref: MESH:C535564 {source="ORDO:988/e", source="Orphanet:988", source="MONDO:equivalentTo"} -xref: OMIM:188740 {source="MONDO:subClassOf", source="Orphanet:988", source="ORDO:988/ntbt"} +xref: ICD10CM:Q87.2 {source="Orphanet:988/attributed", source="Orphanet:988/ntbt", source="Orphanet:988"} +xref: MESH:C535564 {source="Orphanet:988", source="MONDO:equivalentTo", source="Orphanet:988/e"} +xref: OMIM:188740 {source="MONDO:subClassOf", source="Orphanet:988/ntbt", source="Orphanet:988"} xref: Orphanet:988 {source="MONDO:equivalentTo"} -xref: UMLS:C1861099 {source="ORDO:988/e", source="Orphanet:988", source="MONDO:equivalentTo"} +xref: UMLS:C1861099 {source="Orphanet:988", source="MONDO:equivalentTo", source="Orphanet:988/e"} is_a: MONDO:0008572 ! tibia, hypoplasia or aplasia of, with polydactyly is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin @@ -387353,7 +387190,7 @@ def: "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genet subset: ordo_clinical_subtype {source="Orphanet:98815"} synonym: "early-onset benign childhood occipital epilepsy" EXACT [Orphanet:98815] synonym: "Panayiotopoulos syndrome" EXACT [Orphanet:98815] -xref: ICD10CM:G40.0 {source="ORDO:98815/attributed", source="ORDO:98815/ntbt", source="Orphanet:98815"} +xref: ICD10CM:G40.0 {source="Orphanet:98815", source="Orphanet:98815/attributed", source="Orphanet:98815/ntbt"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:98815 {source="MONDO:equivalentTo"} xref: SCTID:230387008 {source="MONDO:equivalentTo"} @@ -387366,7 +387203,7 @@ name: benign childhood occipital epilepsy, Gastaut type def: "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." [Orphanet:98816] subset: ordo_clinical_subtype {source="Orphanet:98816"} synonym: "late-onset benign childhood occipital epilepsy" EXACT [Orphanet:98816] -xref: ICD10CM:G40.0 {source="ORDO:98816/attributed", source="ORDO:98816/ntbt", source="Orphanet:98816"} +xref: ICD10CM:G40.0 {source="Orphanet:98816/attributed", source="Orphanet:98816/ntbt", source="Orphanet:98816"} xref: Orphanet:98816 {source="MONDO:equivalentTo"} xref: UMLS:CN207128 {source="MONDO:equivalentTo"} is_a: MONDO:0007558 {source="Orphanet:98816"} ! benign occipital epilepsy @@ -387389,9 +387226,9 @@ synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820] synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604364, Orphanet:98820] xref: GARD:0013295 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: MESH:C565785 {source="MONDO:equivalentTo"} -xref: OMIM:604364 {source="Orphanet:98820", source="MONDO:superClassOf", source="ORDO:98820/btnt"} -xref: OMIM:617116 {source="Orphanet:98820", source="MONDO:superClassOf", source="ORDO:98820/btnt"} -xref: OMIM:617118 {source="Orphanet:98820", source="MONDO:superClassOf", source="ORDO:98820/btnt"} +xref: OMIM:604364 {source="Orphanet:98820", source="Orphanet:98820/btnt", source="MONDO:superClassOf"} +xref: OMIM:617116 {source="Orphanet:98820", source="Orphanet:98820/btnt", source="MONDO:superClassOf"} +xref: OMIM:617118 {source="Orphanet:98820", source="Orphanet:98820/btnt", source="MONDO:superClassOf"} xref: OMIMPS:604364 {source="MONDO:equivalentTo"} xref: Orphanet:98820 {source="MONDO:equivalentTo", source="OMIM:604364"} xref: SCTID:764522009 {source="MONDO:equivalentTo"} @@ -387411,15 +387248,15 @@ synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178] synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, Orphanet:98823] xref: DOID:0080188 {source="MONDO:equivalentTo"} xref: GARD:0008225 {source="MONDO:equivalentTo"} -xref: ICD10CM:C93.1 {source="ORDO:98823/e", source="Orphanet:98823"} +xref: ICD10CM:C93.1 {source="Orphanet:98823", source="Orphanet:98823/e"} xref: ICDO:9945/3 {source="NCIT:C3178"} -xref: MedDRA:10009018 {source="ORDO:98823/e", source="Orphanet:98823"} -xref: MESH:D015477 {source="ORDO:98823/e", source="MONDO:equivalentTo", source="Orphanet:98823"} +xref: MedDRA:10009018 {source="Orphanet:98823", source="Orphanet:98823/e"} +xref: MESH:D015477 {source="MONDO:equivalentTo", source="Orphanet:98823", source="Orphanet:98823/e"} xref: NCIT:C3178 {source="DOID:0080188", source="MONDO:equivalentTo"} xref: ONCOTREE:CMML {source="MONDO:equivalentTo"} xref: Orphanet:98823 {source="MONDO:equivalentTo"} xref: SCTID:127225006 {source="MONDO:equivalentTo"} -xref: UMLS:C0023480 {source="ORDO:98823/e", source="MONDO:equivalentTo", source="NCIT:C3178", source="Orphanet:98823"} +xref: UMLS:C0023480 {source="MONDO:equivalentTo", source="NCIT:C3178", source="Orphanet:98823", source="Orphanet:98823/e"} is_a: MONDO:0001014 {source="DOID:0080188", source="linkedlifedata"} ! chronic leukemia is_a: MONDO:0006311 {source="NCIT:C3178", source="ONCOTREE:CMML"} ! myelodysplastic/myeloproliferative Neoplasm is_a: MONDO:0020077 {source="MESH:D015477", source="Orphanet:98823"} ! myelodysplastic/myeloproliferative disease @@ -387437,12 +387274,12 @@ synonym: "subacute granulocytic leukemia" EXACT [DOID:0060597] synonym: "subacute myelogenous leukemia" EXACT EXCLUDE [DOID:0060597] synonym: "subacute myeloid leukemia" EXACT [DOID:0060597, Orphanet:98824] xref: DOID:0060597 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.2 {source="DOID:0060597", source="ORDO:98824/e", source="Orphanet:98824"} -xref: MedDRA:10054651 {source="ORDO:98824/e", source="Orphanet:98824"} -xref: MESH:D054438 {source="DOID:0060597", source="ORDO:98824/e", source="Orphanet:98824"} +xref: ICD10CM:C92.2 {source="DOID:0060597", source="Orphanet:98824", source="Orphanet:98824/e"} +xref: MedDRA:10054651 {source="Orphanet:98824", source="Orphanet:98824/e"} +xref: MESH:D054438 {source="DOID:0060597", source="Orphanet:98824", source="Orphanet:98824/e"} xref: NCIT:C3519 {source="DOID:0060597", source="MONDO:directSiblingOf"} xref: Orphanet:98824 {source="DOID:0060597", source="MONDO:equivalentTo"} -xref: UMLS:C0349640 {source="DOID:0060597", source="ORDO:98824/e", source="Orphanet:98824", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0349640 {source="DOID:0060597", source="Orphanet:98824", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98824/e"} xref: UMLS:C1292772 {source="Orphanet:98824", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005046 {source="MONDO:Redundant", source="indirect"} ! immune system disorder is_a: MONDO:0006311 {source="DOID:0060597", source="NCIT:C3519"} ! myelodysplastic/myeloproliferative Neoplasm @@ -387493,7 +387330,7 @@ synonym: "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)( synonym: "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)" RELATED [GARD:0000536] synonym: "CBFB-MYH11" RELATED [GARD:0000536] xref: GARD:0000536 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.5 {source="ORDO:98829/e", source="Orphanet:98829"} +xref: ICD10CM:C92.5 {source="Orphanet:98829/e", source="Orphanet:98829"} xref: Orphanet:98829 {source="MONDO:equivalentTo"} xref: UMLS:C0023479 {source="MONDO:relatedTo", source="GARD:0000536"} is_a: MONDO:0018874 {source="Orphanet:98829"} ! acute myeloid leukemia @@ -387511,12 +387348,12 @@ synonym: "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT [ synonym: "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403] synonym: "AML with 11q23 abnormalities" EXACT [Orphanet:98831] synonym: "AML with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403] -xref: ICD10CM:C92.6 {source="ORDO:98831/e", source="Orphanet:98831"} +xref: ICD10CM:C92.6 {source="Orphanet:98831", source="Orphanet:98831/e"} xref: ICDO:9897/3 {source="NCIT:C82403"} xref: NCIT:C82403 {source="MONDO:equivalentTo"} xref: Orphanet:98831 {source="MONDO:equivalentTo"} xref: SCTID:444911000 {source="MONDO:equivalentTo"} -xref: UMLS:C1292775 {source="ORDO:98831/e", source="Orphanet:98831", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1292775 {source="Orphanet:98831", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98831/e"} xref: UMLS:C2919692 {source="NCIT:C82403", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0018874 {source="NCIT:C82403", source="Orphanet:98831"} ! acute myeloid leukemia @@ -387554,7 +387391,7 @@ synonym: "M2 acute myeloid leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloid leukemia with maturation" EXACT [NCIT:C3250] xref: EFO:0003028 {source="MONDO:equivalentTo"} xref: GARD:0000527 {source="MONDO:equivalentTo"} -xref: ICD10CM:C92.0 {source="Orphanet:98834", source="ORDO:98834/ntbt"} +xref: ICD10CM:C92.0 {source="Orphanet:98834", source="Orphanet:98834/ntbt"} xref: ICDO:9874/3 {source="NCIT:C3250"} xref: NCIT:C3250 {source="MONDO:equivalentTo", source="EFO:0003028"} xref: ONCOTREE:AM {source="MONDO:equivalentTo"} @@ -387579,15 +387416,15 @@ synonym: "leukemia stem cell" EXACT [NCIT:C9298] synonym: "stem cell acute leukemia" EXACT [NCIT:C9298] synonym: "stem cell leukemia" EXACT [NCIT:C9298] synonym: "undifferentiated acute leukemia" EXACT [NCIT:C9298] -xref: ICD10CM:C95.0 {source="ORDO:98835/ntbt", source="Orphanet:98835"} -xref: MedDRA:10045516 {source="ORDO:98835/e", source="Orphanet:98835"} +xref: ICD10CM:C95.0 {source="Orphanet:98835", source="Orphanet:98835/ntbt"} +xref: MedDRA:10045516 {source="Orphanet:98835", source="Orphanet:98835/e"} xref: NCIT:C9298 {source="MONDO:equivalentTo"} xref: OMIM:601626 {source="MONDO:subClassOf", source="Orphanet:98835"} xref: ONCOTREE:AUL {source="MONDO:equivalentTo"} xref: Orphanet:98835 {source="MONDO:equivalentTo"} xref: SCTID:359631009 {source="MONDO:equivalentTo"} xref: UMLS:C0280141 {source="MONDO:equivalentTo", source="Orphanet:98835"} -xref: UMLS:C0856823 {source="ORDO:98835/e", source="MONDO:equivalentTo", source="Orphanet:98835"} +xref: UMLS:C0856823 {source="MONDO:equivalentTo", source="Orphanet:98835", source="Orphanet:98835/e"} xref: UMLS:C1282947 {source="MONDO:equivalentTo"} xref: UMLS:C1378511 {source="NCIT:C9298", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019460 {source="MONDO:Redundant", source="NCIT:C9298", source="Orphanet:98835", source="indirect"} ! acute leukemia of ambiguous lineage @@ -387602,17 +387439,17 @@ subset: ordo_disease {source="Orphanet:98837"} synonym: "B- and T-cell mixed leukemia" EXACT [MONDO:0006667] xref: DOID:9953 {source="EFO:1000828", source="MONDO:equivalentTo"} xref: EFO:1000828 {source="MONDO:equivalentTo"} -xref: ICD10CM:C95.0 {source="DOID:9953", source="ORDO:98837/ntbt", source="Orphanet:98837"} +xref: ICD10CM:C95.0 {source="DOID:9953", source="Orphanet:98837", source="Orphanet:98837/ntbt"} xref: ICD9:207.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9805/3 {source="NCIT:C4673"} -xref: MedDRA:10067399 {source="ORDO:98837/e", source="Orphanet:98837"} -xref: MESH:D015456 {source="DOID:9953", source="EFO:1000828", source="MONDO:equivalentTo", source="ORDO:98837/e", source="Orphanet:98837"} +xref: MedDRA:10067399 {source="Orphanet:98837", source="Orphanet:98837/e"} +xref: MESH:D015456 {source="DOID:9953", source="EFO:1000828", source="MONDO:equivalentTo", source="Orphanet:98837", source="Orphanet:98837/e"} xref: NCIT:C4673 {source="DOID:9953", source="MONDO:equivalentTo", source="exact-label-match"} xref: OMIM:601626 {source="MONDO:subClassOf", source="Orphanet:98837"} xref: Orphanet:98837 {source="MONDO:equivalentTo"} xref: SCTID:128818009 {source="DOID:9953"} xref: SCTID:278453007 {source="DOID:9953", source="MONDO:equivalentTo"} -xref: UMLS:C0023464 {source="DOID:9953", source="MONDO:equivalentTo", source="NCIT:C4673", source="ORDO:98837/e", source="Orphanet:98837"} +xref: UMLS:C0023464 {source="DOID:9953", source="MONDO:equivalentTo", source="NCIT:C4673", source="Orphanet:98837", source="Orphanet:98837/e"} is_a: MONDO:0004967 {source="DOID:9953", source="EFO:1000828"} ! acute lymphoblastic leukemia is_a: MONDO:0020743 {source="NCIT:C4673"} ! mixed phenotype acute leukemia property_value: confidence "0.0" xsd:double @@ -387638,16 +387475,16 @@ synonym: "primary mediastinal B-cell lymphoma" RELATED [DOID:0080210] synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [DOID:0080210, Orphanet:98838] synonym: "primary mediastinal large B-cell lymphoma" EXACT [NCIT:C9280] xref: DOID:0080210 {source="MONDO:equivalentTo"} -xref: ICD10CM:C83.3 {source="ORDO:98838/ntbt", source="Orphanet:98838"} +xref: ICD10CM:C83.3 {source="Orphanet:98838/ntbt", source="Orphanet:98838"} xref: ICD10CM:C85.2 {source="DOID:0080210"} xref: ICDO:9679/3 {source="NCIT:C9280"} -xref: MedDRA:10036710 {source="ORDO:98838/e", source="Orphanet:98838"} +xref: MedDRA:10036710 {source="Orphanet:98838/e", source="Orphanet:98838"} xref: NCIT:C9280 {source="MONDO:equivalentTo"} xref: ONCOTREE:PMBL {source="MONDO:equivalentTo"} xref: Orphanet:98838 {source="DOID:0080210", source="MONDO:equivalentTo"} xref: SCTID:444910004 {source="MONDO:equivalentTo"} -xref: UMLS:C0855152 {source="ORDO:98838/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98838"} -xref: UMLS:C1292754 {source="MONDO:equivalentTo", source="ORDO:98838/e", source="NCIT:C9280", source="Orphanet:98838"} +xref: UMLS:C0855152 {source="Orphanet:98838/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98838"} +xref: UMLS:C1292754 {source="Orphanet:98838/e", source="MONDO:equivalentTo", source="NCIT:C9280", source="Orphanet:98838"} is_a: MONDO:0000951 {source="NCIT:C9280"} ! thymus lymphoma is_a: MONDO:0018905 {source="DOID:0080210", source="NCIT:C9280", source="Orphanet:98838"} ! diffuse large B-cell lymphoma @@ -387665,10 +387502,10 @@ synonym: "intravascular lymphomatosis" EXACT [Orphanet:98839] synonym: "IVBCL" RELATED ABBREVIATION [ONCOTREE:IVBCL] synonym: "malignant angioendotheliomatosis" EXACT [NCIT:C4342, Orphanet:98839] synonym: "Tappeiner-Pfleger disease" EXACT [Orphanet:98839] -xref: ICD10CM:C83.3 {source="ORDO:98839/ntbt", source="Orphanet:98839"} +xref: ICD10CM:C83.3 {source="Orphanet:98839", source="Orphanet:98839/ntbt"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9712/3 {source="NCIT:C4342"} -xref: MedDRA:10069643 {source="ORDO:98839/e", source="Orphanet:98839"} +xref: MedDRA:10069643 {source="Orphanet:98839/e", source="Orphanet:98839"} xref: NCIT:C4342 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:IVBCL {source="MONDO:equivalentTo"} xref: Orphanet:98839 {source="MONDO:equivalentTo"} @@ -387697,12 +387534,12 @@ xref: DOID:0050744 {source="MONDO:equivalentTo", source="EFO:0003032"} xref: EFO:0003032 {source="MONDO:equivalentTo"} xref: GARD:0003112 {source="MONDO:equivalentTo"} xref: HGNC:427 {source="GARD:0003112"} -xref: ICD10CM:C84.6 {source="Orphanet:98841", source="ORDO:98841/btnt"} -xref: ICD10CM:C84.7 {source="Orphanet:98841", source="ORDO:98841/btnt"} +xref: ICD10CM:C84.6 {source="Orphanet:98841/btnt", source="Orphanet:98841"} +xref: ICD10CM:C84.7 {source="Orphanet:98841/btnt", source="Orphanet:98841"} xref: ICD9:200.6 {source="EFO:0003032"} xref: ICD9:200.60 {source="MONDO:equivalentTo", source="i2s"} xref: ICDO:9714/3 {source="NCIT:C3720"} -xref: MESH:D017728 {source="Orphanet:98841", source="MONDO:equivalentTo", source="ORDO:98841/e"} +xref: MESH:D017728 {source="Orphanet:98841", source="MONDO:equivalentTo", source="Orphanet:98841/e"} xref: NCIT:C3720 {source="MONDO:equivalentTo", source="EFO:0003032"} xref: ONCOTREE:ALCL {source="MONDO:equivalentTo"} xref: Orphanet:98841 {source="MONDO:equivalentTo"} @@ -387723,16 +387560,16 @@ synonym: "LYP" RELATED ABBREVIATION [ONCOTREE:LYP] synonym: "LyP" EXACT [Orphanet:98842] xref: EFO:1000341 {source="MONDO:equivalentTo"} xref: GARD:0006944 {source="MONDO:equivalentTo"} -xref: ICD10CM:C86.6 {source="ORDO:98842/e", source="Orphanet:98842"} +xref: ICD10CM:C86.6 {source="Orphanet:98842", source="Orphanet:98842/e"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9718/1 {source="NCIT:C3721"} -xref: MedDRA:10056670 {source="ORDO:98842/e", source="Orphanet:98842"} -xref: MESH:D017731 {source="ORDO:98842/e", source="Orphanet:98842", source="MONDO:equivalentTo"} +xref: MedDRA:10056670 {source="Orphanet:98842", source="Orphanet:98842/e"} +xref: MESH:D017731 {source="Orphanet:98842", source="MONDO:equivalentTo", source="Orphanet:98842/e"} xref: NCIT:C3721 {source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:LYP {source="MONDO:equivalentTo"} xref: Orphanet:98842 {source="MONDO:equivalentTo"} xref: SCTID:31047003 {source="MONDO:equivalentTo"} -xref: UMLS:C0206182 {source="ORDO:98842/e", source="Orphanet:98842", source="MONDO:equivalentTo", source="NCIT:C3721"} +xref: UMLS:C0206182 {source="Orphanet:98842", source="MONDO:equivalentTo", source="Orphanet:98842/e", source="NCIT:C3721"} is_a: MONDO:0018897 {source="Orphanet:98842"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis xsd:anyURI {source="GARD:0006944"} @@ -387740,7 +387577,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6944/lymphoma id: MONDO:0020327 name: classic Hodgkin lymphoma, nodular sclerosis type subset: ordo_histopathological_subtype {source="Orphanet:98843"} -xref: ICD10CM:C81.1 {source="ORDO:98843/e", source="Orphanet:98843"} +xref: ICD10CM:C81.1 {source="Orphanet:98843", source="Orphanet:98843/e"} xref: Orphanet:98843 {source="MONDO:equivalentTo"} xref: UMLS:C0152268 {source="Orphanet:98843", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0009348 {source="Orphanet:98843"} ! classic Hodgkin lymphoma @@ -387777,16 +387614,16 @@ subset: ordo_disease {source="Orphanet:98848"} synonym: "indolent systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4660] synonym: "ism" EXACT [DOID:4660, NCIT:C9286, ONCOTREE:ISM] xref: DOID:4660 {source="MONDO:equivalentTo"} -xref: ICD10CM:D47.0 {source="ORDO:98848/ntbt", source="Orphanet:98848", source="DOID:4660"} +xref: ICD10CM:D47.0 {source="Orphanet:98848", source="Orphanet:98848/ntbt", source="DOID:4660"} xref: ICDO:9741/1 {source="NCIT:C9286"} -xref: MedDRA:10056452 {source="ORDO:98848/e", source="Orphanet:98848"} +xref: MedDRA:10056452 {source="Orphanet:98848", source="Orphanet:98848/e"} xref: MESH:D034721 {source="DOID:4660"} xref: NCIT:C9286 {source="MONDO:equivalentTo", source="exact-label-match", source="DOID:4660"} xref: ONCOTREE:ISM {source="MONDO:equivalentTo"} xref: Orphanet:98848 {source="MONDO:equivalentTo"} xref: SCTID:397356009 {source="DOID:4660"} xref: SCTID:70910003 {source="MONDO:equivalentTo", source="DOID:4660"} -xref: UMLS:C0272203 {source="MONDO:equivalentTo", source="ORDO:98848/e", source="Orphanet:98848", source="DOID:4660", source="NCIT:C9286"} +xref: UMLS:C0272203 {source="MONDO:equivalentTo", source="Orphanet:98848", source="DOID:4660", source="NCIT:C9286", source="Orphanet:98848/e"} is_a: MONDO:0002724 {source="DOID:4660", source="MONDO:Redundant", source="NCIT:C9286/inferred", source="linkedlifedata"} ! mast cell neoplasm is_a: MONDO:0016586 {source="DOID:4660", source="NCIT:C9286/inferred", source="ONCOTREE:ISM", source="Orphanet:98848", source="linkedlifedata"} ! systemic mastocytosis @@ -387807,14 +387644,14 @@ synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cel synonym: "systemic mastocytosis with associated hematologic neoplasm" EXACT [Orphanet:98849] xref: DOID:4797 {source="MONDO:equivalentTo"} xref: EFO:1000559 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.2 {source="ORDO:98849/ntbt", source="Orphanet:98849"} +xref: ICD10CM:C96.2 {source="Orphanet:98849/ntbt", source="Orphanet:98849"} xref: ICDO:9741/3 {source="NCIT:C9284"} xref: NCIT:C9284 {source="DOID:4797", source="MONDO:equivalentTo", source="EFO:1000559"} xref: ONCOTREE:SMAHN {source="MONDO:equivalentTo"} xref: Orphanet:98849 {source="MONDO:equivalentTo"} xref: SCTID:397015000 {source="DOID:4797", source="MONDO:equivalentTo"} xref: SCTID:397357000 {source="DOID:4797"} -xref: UMLS:C1301365 {source="DOID:4797", source="ORDO:98849/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98849", source="NCIT:C9284"} +xref: UMLS:C1301365 {source="Orphanet:98849/e", source="DOID:4797", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98849", source="NCIT:C9284"} is_a: MONDO:0005570 {source="EFO:1000559", source="EFO:1000559/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hematologic disorder is_a: MONDO:0016586 {source="Orphanet:98849"} ! systemic mastocytosis @@ -387827,9 +387664,9 @@ synonym: "aggressive systemic mastocytosis (morphologic abnormality)" EXACT [DOI synonym: "ASM" EXACT ABBREVIATION [DOID:4798, NCIT:C9285, ONCOTREE:ASM] synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [DOID:4798] xref: DOID:4798 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.2 {source="Orphanet:98850", source="DOID:4798", source="ORDO:98850/ntbt"} +xref: ICD10CM:C96.2 {source="Orphanet:98850", source="DOID:4798", source="Orphanet:98850/ntbt"} xref: ICDO:9741/3 {source="NCIT:C9285"} -xref: MedDRA:10056453 {source="Orphanet:98850", source="ORDO:98850/e"} +xref: MedDRA:10056453 {source="Orphanet:98850", source="Orphanet:98850/e"} xref: MESH:D034721 {source="DOID:4798"} xref: NCIT:C9285 {source="DOID:4798", source="MONDO:equivalentTo", source="exact-label-match"} xref: ONCOTREE:ASM {source="MONDO:equivalentTo"} @@ -387837,7 +387674,7 @@ xref: Orphanet:98850 {source="MONDO:equivalentTo"} xref: SCTID:397008008 {source="DOID:4798"} xref: SCTID:397358005 {source="DOID:4798"} xref: SCTID:716655008 {source="MONDO:equivalentTo"} -xref: UMLS:C1112486 {source="Orphanet:98850", source="DOID:4798", source="MONDO:equivalentTo", source="ORDO:98850/e", source="NCIT:C9285"} +xref: UMLS:C1112486 {source="Orphanet:98850", source="DOID:4798", source="MONDO:equivalentTo", source="Orphanet:98850/e", source="NCIT:C9285"} is_a: MONDO:0016586 {source="DOID:4798", source="NCIT:C9285/inferred", source="ONCOTREE:ASM", source="Orphanet:98850", source="linkedlifedata"} ! systemic mastocytosis [Term] @@ -387853,11 +387690,11 @@ synonym: "mast-cell leukemia" EXACT [MONDO:0005840] synonym: "SMMCL" RELATED ABBREVIATION [ONCOTREE:SMMCL] xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"} xref: EFO:0007359 {source="MONDO:equivalentTo"} -xref: ICD10CM:C94.3 {source="Orphanet:98851", source="Orphanet:158799", source="ORDO:158799/ntbt", source="DOID:9254", source="ORDO:98851/e"} +xref: ICD10CM:C94.3 {source="Orphanet:98851", source="Orphanet:158799/ntbt", source="Orphanet:158799", source="Orphanet:98851/e", source="DOID:9254"} xref: ICD10CM:C94.30 {source="DOID:9254"} xref: ICDO:9742/3 {source="NCIT:C3169"} -xref: MedDRA:10056450 {source="Orphanet:98851", source="ORDO:98851/e"} -xref: MESH:D007946 {source="Orphanet:98851", source="EFO:0007359", source="MONDO:equivalentTo", source="DOID:9254", source="ORDO:98851/e"} +xref: MedDRA:10056450 {source="Orphanet:98851", source="Orphanet:98851/e"} +xref: MESH:D007946 {source="Orphanet:98851", source="EFO:0007359", source="MONDO:equivalentTo", source="Orphanet:98851/e", source="DOID:9254"} xref: NCIT:C3169 {source="MONDO:equivalentTo", source="DOID:9254"} xref: ONCOTREE:SMMCL {source="MONDO:equivalentTo"} xref: Orphanet:158799 {source="MONDO:equivalentObsolete"} @@ -387866,7 +387703,7 @@ xref: SCTID:110002002 {source="MONDO:equivalentTo", source="DOID:9254"} xref: SCTID:128924002 {source="DOID:9254"} xref: SCTID:188755006 {source="DOID:9254"} xref: SCTID:70798001 {source="DOID:9254"} -xref: UMLS:C0023461 {source="Orphanet:98851", source="MONDO:equivalentTo", source="NCIT:C3169", source="DOID:9254", source="ORDO:98851/e"} +xref: UMLS:C0023461 {source="Orphanet:98851", source="MONDO:equivalentTo", source="Orphanet:98851/e", source="NCIT:C3169", source="DOID:9254"} is_a: MONDO:0005059 {source="DOID:9254", source="EFO:0007359", source="MESH:D007946", source="MESH:D007946/inferred", source="NCIT:C3169", source="linkedlifedata"} ! leukemia is_a: MONDO:0016586 {source="NCIT:C3169/inferred", source="ONCOTREE:SMMCL", source="Orphanet:98851"} ! systemic mastocytosis @@ -387886,13 +387723,13 @@ synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_PR synonym: "EDMD2" EXACT ABBREVIATION [Orphanet:98853] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:0002101 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98853", source="ORDO:98853/attributed", source="ORDO:98853/ntbt"} -xref: OMIM:181350 {source="Orphanet:98853", source="MONDO:superClassOf", source="ORDO:98853/btnt", source="MONDO:directSiblingOf"} -xref: OMIM:612998 {source="Orphanet:98853", source="MONDO:superClassOf", source="ORDO:98853/btnt"} -xref: OMIM:612999 {source="Orphanet:98853", source="MONDO:superClassOf", source="ORDO:98853/btnt"} -xref: OMIM:614302 {source="Orphanet:98853", source="MONDO:superClassOf", source="ORDO:98853/btnt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98853", source="Orphanet:98853/attributed", source="Orphanet:98853/ntbt"} +xref: OMIM:181350 {source="Orphanet:98853", source="Orphanet:98853/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:612998 {source="Orphanet:98853", source="Orphanet:98853/btnt", source="MONDO:superClassOf"} +xref: OMIM:612999 {source="Orphanet:98853", source="Orphanet:98853/btnt", source="MONDO:superClassOf"} +xref: OMIM:614302 {source="Orphanet:98853", source="Orphanet:98853/btnt", source="MONDO:superClassOf"} xref: Orphanet:98853 {source="MONDO:equivalentTo"} -xref: UMLS:C0410190 {source="ORDO:98853/e", source="Orphanet:98853", source="MONDO:directSiblingOf"} +xref: UMLS:C0410190 {source="Orphanet:98853", source="Orphanet:98853/e", source="MONDO:directSiblingOf"} is_a: MONDO:0016830 {source="MONDO:Redundant", source="Orphanet:98853"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy intersection_of: MONDO:0016830 ! Emery-Dreifuss muscular dystrophy @@ -387913,12 +387750,12 @@ synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000] synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000] xref: DOID:0111396 {source="MONDO:equivalentTo"} xref: GARD:0002000 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="ORDO:98869/attributed", source="ORDO:98869/ntbt", source="Orphanet:98869"} -xref: OMIM:224120 {source="ORDO:98869/e", source="MONDO:superClassOf", source="Orphanet:98869"} -xref: OMIM:615631 {source="MONDO:superClassOf", source="ORDO:98869/btnt", source="Orphanet:98869"} +xref: ICD10CM:D64.4 {source="MONDO:subClassOf", source="Orphanet:98869", source="Orphanet:98869/attributed", source="Orphanet:98869/ntbt"} +xref: OMIM:224120 {source="MONDO:superClassOf", source="Orphanet:98869", source="Orphanet:98869/e"} +xref: OMIM:615631 {source="MONDO:superClassOf", source="Orphanet:98869", source="Orphanet:98869/btnt"} xref: Orphanet:98869 {source="MONDO:equivalentTo"} xref: SCTID:59548005 {source="MONDO:equivalentTo"} -xref: UMLS:C0271933 {source="ORDO:98869/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98869"} +xref: UMLS:C0271933 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98869", source="Orphanet:98869/e"} is_a: MONDO:0019403 {source="Orphanet:98869", source="linkedlifedata"} ! congenital dyserythropoietic anemia relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4069 @@ -387934,7 +387771,7 @@ synonym: "adult pure red-cell aplasia" EXACT [MONDO:design_pattern] synonym: "idiopathic pure red cell aplasia" RELATED [GARD:0010898] synonym: "pure red-cell aplasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:0010898 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D60.0 {source="Orphanet:98872", source="ORDO:98872/ntbt"} +xref: ICD10CM:D60.0 {source="Orphanet:98872", source="Orphanet:98872/ntbt"} xref: NCIT:C70548 {source="MONDO:equivalentTo"} xref: Orphanet:98872 {source="MONDO:equivalentTo"} xref: SCTID:765748009 {source="MONDO:equivalentTo"} @@ -387953,7 +387790,7 @@ synonym: "Complex X-linked SPG" EXACT [Orphanet:98888] synonym: "complicated X-linked HSP" EXACT [Orphanet:98888] synonym: "complicated X-linked SPG" EXACT [Orphanet:98888] synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888] -xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:98888", source="ORDO:98888/attributed", source="ORDO:98888/ntbt"} +xref: ICD10CM:G11.4 {source="MONDO:subClassOf", source="Orphanet:98888/attributed", source="Orphanet:98888/ntbt", source="Orphanet:98888"} xref: Orphanet:98888 {source="MONDO:equivalentTo"} is_a: MONDO:0015150 {source="Orphanet:98888"} ! complex hereditary spastic paraplegia @@ -387962,10 +387799,10 @@ id: MONDO:0020340 name: bilateral perisylvian polymicrogyria subset: ordo_clinical_subtype {source="Orphanet:98889"} xref: GARD:0006011 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:98889", source="ORDO:98889/attributed", source="ORDO:98889/ntbt"} -xref: OMIM:300388 {source="MONDO:superClassOf", source="Orphanet:98889", source="ORDO:98889/btnt"} -xref: OMIM:615752 {source="MONDO:superClassOf", source="Orphanet:98889", source="ORDO:98889/btnt"} -xref: OMIM:616531 {source="MONDO:superClassOf", source="Orphanet:98889", source="ORDO:98889/btnt"} +xref: ICD10CM:Q04.3 {source="Orphanet:98889", source="Orphanet:98889/attributed", source="Orphanet:98889/ntbt"} +xref: OMIM:300388 {source="MONDO:superClassOf", source="Orphanet:98889", source="Orphanet:98889/btnt"} +xref: OMIM:615752 {source="MONDO:superClassOf", source="Orphanet:98889", source="Orphanet:98889/btnt"} +xref: OMIM:616531 {source="MONDO:superClassOf", source="Orphanet:98889", source="Orphanet:98889/btnt"} xref: Orphanet:98889 {source="MONDO:equivalentTo"} xref: UMLS:C1845668 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98889"} is_a: MONDO:0017091 {source="Orphanet:98889"} ! bilateral polymicrogyria @@ -387979,20 +387816,20 @@ synonym: "periventricular heterotopia" EXACT [DOID:0050454] synonym: "periventricular nodular heterotopia" EXACT CLINGEN_PREFERRED [] xref: DOID:0050454 {source="MONDO:equivalentTo"} xref: GARD:0012724 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.8 {source="ORDO:98892/attributed", source="ORDO:98892/ntbt", source="Orphanet:98892"} -xref: MedDRA:10066854 {source="ORDO:98892/e", source="Orphanet:98892"} -xref: MESH:D054091 {source="DOID:0050454", source="MONDO:equivalentTo", source="ORDO:98892/e", source="Orphanet:98892"} -xref: OMIM:300049 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} -xref: OMIM:608097 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} -xref: OMIM:608098 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} -xref: OMIM:612881 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} -xref: OMIM:615544 {source="ORDO:98892/btnt", source="DOID:0050454", source="MONDO:superClassOf", source="Orphanet:98892"} +xref: ICD10CM:Q04.8 {source="Orphanet:98892/attributed", source="Orphanet:98892/ntbt", source="Orphanet:98892"} +xref: MedDRA:10066854 {source="Orphanet:98892/e", source="Orphanet:98892"} +xref: MESH:D054091 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"} +xref: OMIM:300049 {source="DOID:0050454", source="Orphanet:98892/btnt", source="MONDO:superClassOf", source="Orphanet:98892"} +xref: OMIM:608097 {source="DOID:0050454", source="Orphanet:98892/btnt", source="MONDO:superClassOf", source="Orphanet:98892"} +xref: OMIM:608098 {source="DOID:0050454", source="Orphanet:98892/btnt", source="MONDO:superClassOf", source="Orphanet:98892"} +xref: OMIM:612881 {source="DOID:0050454", source="Orphanet:98892/btnt", source="MONDO:superClassOf", source="Orphanet:98892"} +xref: OMIM:615544 {source="DOID:0050454", source="Orphanet:98892/btnt", source="MONDO:superClassOf", source="Orphanet:98892"} xref: OMIM:617201 {source="MONDO:superClassOf", source="Orphanet:98892"} xref: OMIMPS:300049 {source="MONDO:equivalentTo"} xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"} xref: SCTID:448227009 {source="DOID:0050454", source="MONDO:superClassOf"} xref: UMLS:C1848213 {source="DOID:0050454", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1868720 {source="DOID:0050454", source="MONDO:equivalentTo", source="ORDO:98892/e", source="Orphanet:98892"} +xref: UMLS:C1868720 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"} is_a: MONDO:0002320 {source="DOID:0050454", source="indirect"} ! congenital nervous system disorder is_a: MONDO:0016292 {source="Orphanet:98892"} ! nodular neuronal heterotopia relationship: has_modifier MONDO:0021152 {source="OMIMPS:300049"} ! inherited @@ -388002,9 +387839,9 @@ id: MONDO:0020342 name: congenital myopathy with excess of thin filaments subset: ordo_disease {source="Orphanet:98904"} synonym: "actin myopathy" EXACT [Orphanet:98904] -xref: ICD10CM:G71.2 {source="ORDO:98904/attributed", source="ORDO:98904/ntbt", source="Orphanet:98904"} +xref: ICD10CM:G71.2 {source="Orphanet:98904/attributed", source="Orphanet:98904/ntbt", source="Orphanet:98904"} xref: MESH:C579880 {source="MONDO:equivalentTo"} -xref: OMIM:161800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:98904/ntbt", source="Orphanet:98904"} +xref: OMIM:161800 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:98904/ntbt", source="Orphanet:98904"} xref: Orphanet:98904 {source="MONDO:equivalentTo"} xref: UMLS:C1834336 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98904"} xref: UMLS:C3711389 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98904"} @@ -388021,7 +387858,7 @@ name: alpha-crystallinopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98910"} synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910] -xref: ICD10CM:G71.8 {source="Orphanet:98910", source="ORDO:98910/attributed", source="ORDO:98910/ntbt"} +xref: ICD10CM:G71.8 {source="Orphanet:98910/attributed", source="Orphanet:98910/ntbt", source="Orphanet:98910"} xref: Orphanet:98910 {source="MONDO:equivalentTo"} is_a: MONDO:0016188 {source="Orphanet:98910"} ! qualitative or quantitative defects of alphaB-cristallin is_a: MONDO:0018943 {source="Orphanet:98910"} ! myofibrillar myopathy @@ -388031,24 +387868,24 @@ id: MONDO:0020344 name: postsynaptic congenital myasthenic syndrome subset: ordo_etiological_subtype {source="Orphanet:98913"} synonym: "postsynaptic congenital myasthenic syndromes" RELATED [Orphanet:98913] -xref: ICD10CM:G70.2 {source="ORDO:98913/attributed", source="ORDO:98913/ntbt", source="Orphanet:98913"} -xref: OMIM:254300 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:601462 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:605809 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:608930 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:608931 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:614198 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:615120 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616304 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616313 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616314 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616321 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616322 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616323 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616324 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616325 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616326 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} -xref: OMIM:616720 {source="MONDO:superClassOf", source="ORDO:98913/btnt", source="Orphanet:98913"} +xref: ICD10CM:G70.2 {source="Orphanet:98913", source="Orphanet:98913/attributed", source="Orphanet:98913/ntbt"} +xref: OMIM:254300 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:601462 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:605809 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:608930 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:608931 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:614198 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:615120 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616304 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616313 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616314 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616321 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616322 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616323 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616324 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616325 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616326 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} +xref: OMIM:616720 {source="MONDO:superClassOf", source="Orphanet:98913", source="Orphanet:98913/btnt"} xref: Orphanet:98913 {source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="MONDO:Redundant", source="Orphanet:98913"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome @@ -388062,13 +387899,13 @@ id: MONDO:0020345 name: presynaptic congenital myasthenic syndrome subset: ordo_etiological_subtype {source="Orphanet:98914"} synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914] -xref: ICD10CM:G70.2 {source="ORDO:98914/attributed", source="ORDO:98914/ntbt", source="Orphanet:98914"} -xref: OMIM:254210 {source="ORDO:98914/btnt", source="MONDO:superClassOf", source="Orphanet:98914"} -xref: OMIM:615120 {source="ORDO:98914/btnt", source="MONDO:superClassOf", source="Orphanet:98914"} -xref: OMIM:616040 {source="ORDO:98914/btnt", source="MONDO:superClassOf", source="Orphanet:98914"} -xref: OMIM:616330 {source="ORDO:98914/btnt", source="MONDO:superClassOf", source="Orphanet:98914"} -xref: OMIM:616720 {source="ORDO:98914/btnt", source="MONDO:superClassOf", source="Orphanet:98914"} -xref: OMIM:617143 {source="ORDO:98914/btnt", source="MONDO:superClassOf", source="Orphanet:98914"} +xref: ICD10CM:G70.2 {source="Orphanet:98914", source="Orphanet:98914/attributed", source="Orphanet:98914/ntbt"} +xref: OMIM:254210 {source="MONDO:superClassOf", source="Orphanet:98914", source="Orphanet:98914/btnt"} +xref: OMIM:615120 {source="MONDO:superClassOf", source="Orphanet:98914", source="Orphanet:98914/btnt"} +xref: OMIM:616040 {source="MONDO:superClassOf", source="Orphanet:98914", source="Orphanet:98914/btnt"} +xref: OMIM:616330 {source="MONDO:superClassOf", source="Orphanet:98914", source="Orphanet:98914/btnt"} +xref: OMIM:616720 {source="MONDO:superClassOf", source="Orphanet:98914", source="Orphanet:98914/btnt"} +xref: OMIM:617143 {source="MONDO:superClassOf", source="Orphanet:98914", source="Orphanet:98914/btnt"} xref: OMIM:617239 {source="MONDO:superClassOf", source="Orphanet:98914"} xref: Orphanet:98914 {source="MONDO:equivalentTo"} xref: UMLS:C0751884 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98914"} @@ -388081,8 +387918,8 @@ id: MONDO:0020346 name: synaptic congenital myasthenic syndrome subset: ordo_etiological_subtype {source="Orphanet:98915"} synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915] -xref: ICD10CM:G70.2 {source="ORDO:98915/attributed", source="ORDO:98915/ntbt", source="Orphanet:98915"} -xref: OMIM:603034 {source="ORDO:98915/btnt", source="MONDO:superClassOf", source="Orphanet:98915"} +xref: ICD10CM:G70.2 {source="Orphanet:98915/attributed", source="Orphanet:98915/ntbt", source="Orphanet:98915"} +xref: OMIM:603034 {source="MONDO:superClassOf", source="Orphanet:98915/btnt", source="Orphanet:98915"} xref: Orphanet:98915 {source="MONDO:equivalentTo"} is_a: MONDO:0018940 {source="Orphanet:98915"} ! congenital myasthenic syndrome @@ -388099,9 +387936,9 @@ synonym: "AIDP" EXACT ABBREVIATION [Orphanet:98916] synonym: "GBS, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] synonym: "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] synonym: "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:98916/ntbt", source="Orphanet:98916"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:98916", source="Orphanet:98916/ntbt"} xref: NCIT:C116926 {source="MONDO:equivalentTo"} -xref: OMIM:139393 {source="MONDO:subClassOf", source="ORDO:98916/btnt", source="MONDO:superClassOf", source="Orphanet:98916"} +xref: OMIM:139393 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="Orphanet:98916", source="Orphanet:98916/btnt"} xref: Orphanet:98916 {source="MONDO:equivalentTo"} xref: UMLS:C1963929 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98916"} xref: UMLS:C3542501 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C116926"} @@ -388121,7 +387958,7 @@ synonym: "acute motor-sensory axonal Guillain-BarrC) syndrome" EXACT [Orphanet:9 synonym: "acute motor-sensory axonal Guillain-Barré syndrome" EXACT [Orphanet:98917] synonym: "acute motor-sensory axonal neuropathy" EXACT [NCIT:C116927] synonym: "AMSAN" EXACT ABBREVIATION [Orphanet:98917] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:98917/ntbt", source="Orphanet:98917"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:98917/ntbt", source="Orphanet:98917"} xref: NCIT:C116927 {source="MONDO:equivalentTo"} xref: Orphanet:98917 {source="MONDO:equivalentTo"} xref: SCTID:716722005 {source="MONDO:equivalentTo"} @@ -388139,7 +387976,7 @@ synonym: "acute pure motor GBS" EXACT [Orphanet:98918] synonym: "acute pure motor Guillain-Barre syndrome" EXACT [Orphanet:98918] synonym: "acute pure motor Guillain-Barré syndrome" EXACT [Orphanet:98918] synonym: "AMAN" EXACT ABBREVIATION [Orphanet:98918] -xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="ORDO:98918/ntbt", source="Orphanet:98918"} +xref: ICD10CM:G61.0 {source="MONDO:subClassOf", source="Orphanet:98918/ntbt", source="Orphanet:98918"} xref: NCIT:C116929 {source="MONDO:equivalentTo"} xref: Orphanet:98918 {source="MONDO:equivalentTo"} xref: SCTID:715770009 {source="MONDO:equivalentTo"} @@ -388159,7 +387996,7 @@ id: MONDO:0020351 name: Blake pouch cyst def: "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." [Orphanet:98922] subset: ordo_morphological_anomaly {source="Orphanet:98922"} -xref: ICD10CM:Q03.1 {source="Orphanet:98922", source="ORDO:98922/ntbt"} +xref: ICD10CM:Q03.1 {source="Orphanet:98922", source="Orphanet:98922/ntbt"} xref: Orphanet:98922 {source="MONDO:equivalentTo"} is_a: MONDO:0020134 {source="Orphanet:98922"} ! cystic malformation of the posterior fossa @@ -388170,7 +388007,7 @@ def: "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple s subset: ordo_clinical_subtype {source="Orphanet:98933"} synonym: "MSA, parkinsonian type" EXACT [Orphanet:98933] synonym: "MSA-p" EXACT [Orphanet:98933] -xref: ICD10CM:G23.2 {source="ORDO:98933/e", source="Orphanet:98933", source="MONDO:directSiblingOf"} +xref: ICD10CM:G23.2 {source="Orphanet:98933", source="MONDO:directSiblingOf", source="Orphanet:98933/e"} xref: Orphanet:98933 {source="MONDO:equivalentTo"} xref: UMLS:CN207200 {source="MONDO:equivalentTo"} is_a: MONDO:0007803 {source="Orphanet:98933"} ! multiple system atrophy @@ -388180,7 +388017,7 @@ is_a: MONDO:0021095 ! parkinsonian disorder id: MONDO:0020353 name: von Hippel anomaly subset: ordo_malformation_syndrome {source="Orphanet:98941"} -xref: ICD10CM:Q13.4 {source="Orphanet:98941", source="ORDO:98941/attributed", source="ORDO:98941/ntbt"} +xref: ICD10CM:Q13.4 {source="Orphanet:98941", source="Orphanet:98941/attributed", source="Orphanet:98941/ntbt"} xref: Orphanet:98941 {source="MONDO:equivalentTo"} is_a: MONDO:0011414 {source="Orphanet:98941"} ! Peters anomaly @@ -388193,8 +388030,8 @@ synonym: "choroidal coloboma" RELATED [GARD:0001432] synonym: "retinal coloboma" RELATED [GARD:0001432] synonym: "retinochoroidal coloboma" RELATED [GARD:0001432] xref: GARD:0001432 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q14.8 {source="Orphanet:98942", source="ORDO:98942/attributed", source="ORDO:98942/ntbt"} -xref: OMIM:120200 {source="MONDO:subClassOf", source="Orphanet:98942", source="ORDO:98942/ntbt"} +xref: ICD10CM:Q14.8 {source="Orphanet:98942/attributed", source="Orphanet:98942/ntbt", source="Orphanet:98942"} +xref: OMIM:120200 {source="MONDO:subClassOf", source="Orphanet:98942/ntbt", source="Orphanet:98942"} xref: Orphanet:98942 {source="MONDO:equivalentTo"} xref: SCTID:39302008 {source="MONDO:equivalentTo"} is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant @@ -388206,9 +388043,9 @@ name: coloboma of eye lens subset: gard_rare {source="GARD:0001433"} subset: ordo_morphological_anomaly {source="Orphanet:98943"} xref: GARD:0001433 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q12.2 {source="ORDO:98943/specific", source="ORDO:98943/e", source="Orphanet:98943"} +xref: ICD10CM:Q12.2 {source="Orphanet:98943", source="Orphanet:98943/e", source="Orphanet:98943/specific"} xref: Orphanet:98943 {source="MONDO:equivalentTo"} -xref: UMLS:C0344516 {source="ORDO:98943/e", source="Orphanet:98943", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0344516 {source="Orphanet:98943", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98943/e"} is_a: MONDO:0001476 {source="Orphanet:98943"} ! coloboma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens xsd:anyURI {source="GARD:0001433"} @@ -388222,10 +388059,10 @@ synonym: "coloboma of iris (disease)" EXACT [https://orcid.org/0000-0002-6601-21 synonym: "coloboma of the iris" EXACT [NCIT:C98879] xref: GARD:0001434 {source="MONDO:equivalentTo"} xref: HP:0000612 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q13.0 {source="ORDO:98944/e", source="ORDO:98944/specific", source="Orphanet:98944"} -xref: MedDRA:10052642 {source="ORDO:98944/e", source="Orphanet:98944"} +xref: ICD10CM:Q13.0 {source="Orphanet:98944", source="Orphanet:98944/specific", source="Orphanet:98944/e"} +xref: MedDRA:10052642 {source="Orphanet:98944", source="Orphanet:98944/e"} xref: NCIT:C98879 {source="MONDO:equivalentTo"} -xref: OMIM:120200 {source="MONDO:subClassOf", source="Orphanet:98944", source="ORDO:98944/ntbt"} +xref: OMIM:120200 {source="MONDO:subClassOf", source="Orphanet:98944", source="Orphanet:98944/ntbt"} xref: Orphanet:98944 {source="MONDO:equivalentTo"} xref: SCTID:9446007 {source="MONDO:equivalentTo"} xref: UMLS:C0240063 {source="NCIT:C98879", source="MONDO:notFoundInDiseaseSubset"} @@ -388241,11 +388078,11 @@ name: coloboma of eyelid def: "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." [NCIT:C98878] subset: ordo_morphological_anomaly {source="Orphanet:98946"} synonym: "coloboma of the eyelid" EXACT [NCIT:C98878] -xref: ICD10CM:Q10.3 {source="ORDO:98946/ntbt", source="Orphanet:98946", source="ORDO:98946/inclusion"} +xref: ICD10CM:Q10.3 {source="Orphanet:98946/inclusion", source="Orphanet:98946", source="Orphanet:98946/ntbt"} xref: NCIT:C98878 {source="MONDO:equivalentTo"} xref: Orphanet:98946 {source="MONDO:equivalentTo"} xref: SCTID:95202004 {source="MONDO:equivalentTo"} -xref: UMLS:C0521573 {source="NCIT:C98878", source="ORDO:98946/e", source="MONDO:equivalentTo", source="Orphanet:98946"} +xref: UMLS:C0521573 {source="NCIT:C98878", source="MONDO:equivalentTo", source="Orphanet:98946", source="Orphanet:98946/e"} is_a: MONDO:0001476 {source="Orphanet:98946"} ! coloboma is_a: MONDO:0020155 {source="Orphanet:98946"} ! eyelid border anomaly @@ -388258,7 +388095,7 @@ subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:98947"} synonym: "coloboma of optic papilla" EXACT [Orphanet:98947] xref: GARD:0001438 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q14.2 {source="ORDO:98947/ntbt", source="Orphanet:98947", source="ORDO:98947/inclusion"} +xref: ICD10CM:Q14.2 {source="Orphanet:98947/inclusion", source="Orphanet:98947", source="Orphanet:98947/ntbt"} xref: Orphanet:98947 {source="MONDO:equivalentTo"} is_a: MONDO:0001476 {source="Orphanet:98947"} ! coloboma relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4364 @@ -388269,7 +388106,7 @@ id: MONDO:0020359 name: congenital symblepharon subset: ordo_clinical_subtype {source="Orphanet:98948"} xref: DOID:0111720 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="ORDO:98948/attributed", source="ORDO:98948/ntbt", source="Orphanet:98948"} +xref: ICD10CM:Q11.2 {source="Orphanet:98948/attributed", source="Orphanet:98948/ntbt", source="Orphanet:98948"} xref: Orphanet:98948 {source="MONDO:equivalentTo"} xref: UMLS:C0152454 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98948"} is_a: MONDO:0007410 {source="Orphanet:98948"} ! isolated cryptophthalmia @@ -388281,7 +388118,7 @@ id: MONDO:0020360 name: complete cryptophthalmia subset: ordo_clinical_subtype {source="Orphanet:98949"} xref: DOID:0111719 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="ORDO:98949/attributed", source="ORDO:98949/ntbt", source="Orphanet:98949"} +xref: ICD10CM:Q11.2 {source="Orphanet:98949", source="Orphanet:98949/attributed", source="Orphanet:98949/ntbt"} xref: Orphanet:98949 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia @@ -388290,7 +388127,7 @@ id: MONDO:0020361 name: partial cryptophthalmia subset: ordo_clinical_subtype {source="Orphanet:98950"} xref: DOID:0111718 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q11.2 {source="Orphanet:98950", source="ORDO:98950/attributed", source="ORDO:98950/ntbt"} +xref: ICD10CM:Q11.2 {source="Orphanet:98950", source="Orphanet:98950/attributed", source="Orphanet:98950/ntbt"} xref: Orphanet:98950 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia @@ -388299,7 +388136,7 @@ id: MONDO:0020362 name: inverse Marcus-Gunn phenomenon def: "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." [Orphanet:98951] subset: ordo_clinical_subtype {source="Orphanet:98951"} -xref: ICD10CM:Q07.8 {source="Orphanet:98951", source="ORDO:98951/attributed", source="ORDO:98951/ntbt"} +xref: ICD10CM:Q07.8 {source="Orphanet:98951/attributed", source="Orphanet:98951/ntbt", source="Orphanet:98951"} xref: Orphanet:98951 {source="MONDO:equivalentTo"} xref: UMLS:CN207213 {source="MONDO:equivalentTo"} is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome @@ -388308,7 +388145,7 @@ is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome id: MONDO:0020363 name: honey-droplet corneal dystrophy subset: ordo_disease {source="Orphanet:98958"} -xref: ICD10CM:H18.5 {source="ORDO:98958/ntbt", source="Orphanet:98958"} +xref: ICD10CM:H18.5 {source="Orphanet:98958", source="Orphanet:98958/ntbt"} xref: Orphanet:98958 {source="MONDO:equivalentTo"} xref: UMLS:CN207218 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease or disorder @@ -388326,11 +388163,11 @@ synonym: "posterior polymorphous dystrophy" EXACT [Orphanet:98973] synonym: "PPCD" EXACT ABBREVIATION [DOID:0060457, Orphanet:98973] synonym: "Schlichting dystrophy" EXACT [DOID:0060457, Orphanet:98973] xref: DOID:0060457 {source="MONDO:equivalentTo"} -xref: ICD10CM:H18.5 {source="Orphanet:98973", source="DOID:0060457", source="ORDO:98973/attributed", source="ORDO:98973/ntbt"} +xref: ICD10CM:H18.5 {source="Orphanet:98973/attributed", source="Orphanet:98973/ntbt", source="Orphanet:98973", source="DOID:0060457"} xref: MESH:C562745 {source="DOID:0060457"} -xref: OMIM:122000 {source="Orphanet:98973", source="DOID:0060457", source="MONDO:superClassOf", source="ORDO:98973/e"} -xref: OMIM:609140 {source="Orphanet:98973", source="DOID:0060457", source="MONDO:superClassOf", source="ORDO:98973/btnt"} -xref: OMIM:609141 {source="Orphanet:98973", source="DOID:0060457", source="MONDO:superClassOf", source="ORDO:98973/btnt"} +xref: OMIM:122000 {source="Orphanet:98973", source="DOID:0060457", source="MONDO:superClassOf", source="Orphanet:98973/e"} +xref: OMIM:609140 {source="Orphanet:98973/btnt", source="Orphanet:98973", source="DOID:0060457", source="MONDO:superClassOf"} +xref: OMIM:609141 {source="Orphanet:98973/btnt", source="Orphanet:98973", source="DOID:0060457", source="MONDO:superClassOf"} xref: OMIMPS:122000 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:98973 {source="DOID:0060457", source="MONDO:equivalentTo"} xref: UMLS:C0339284 {source="Orphanet:98973", source="MONDO:notFoundInDiseaseSubset"} @@ -388349,11 +388186,11 @@ synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT synonym: "CHED1" EXACT ABBREVIATION [Orphanet:98975] synonym: "CHEDI" EXACT ABBREVIATION [Orphanet:98975] synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [Orphanet:98975] -xref: ICD10CM:H18.5 {source="Orphanet:98975", source="ORDO:98975/attributed", source="ORDO:98975/ntbt"} -xref: OMIM:121700 {source="ORDO:98975/e", source="MONDO:equivalentObsolete", source="Orphanet:98975"} +xref: ICD10CM:H18.5 {source="Orphanet:98975/attributed", source="Orphanet:98975/ntbt", source="Orphanet:98975"} +xref: OMIM:121700 {source="MONDO:equivalentObsolete", source="Orphanet:98975", source="Orphanet:98975/e"} xref: Orphanet:98975 {source="MONDO:equivalentTo"} xref: SCTID:416633008 {source="MONDO:equivalentTo"} -xref: UMLS:C1562689 {source="ORDO:98975/e", source="Orphanet:98975", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1562689 {source="Orphanet:98975", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98975/e"} is_a: MONDO:0020214 {source="Orphanet:98975"} ! posterior corneal dystrophy [Term] @@ -388367,12 +388204,12 @@ synonym: "buphthalmos" EXACT [Orphanet:98976] synonym: "Buphthalmus" EXACT [Orphanet:98976] synonym: "primary congenital glaucoma" EXACT [Orphanet:98976] xref: GARD:0002485 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q15.0 {source="ORDO:98976/specific", source="ORDO:98976/e", source="Orphanet:98976"} +xref: ICD10CM:Q15.0 {source="Orphanet:98976", source="Orphanet:98976/e", source="Orphanet:98976/specific"} xref: NCIT:C50648 {source="MONDO:equivalentTo"} -xref: OMIM:231300 {source="ORDO:98976/e", source="Orphanet:98976", source="MONDO:superClassOf"} -xref: OMIM:600975 {source="Orphanet:98976", source="MONDO:superClassOf", source="ORDO:98976/btnt"} -xref: OMIM:613085 {source="Orphanet:98976", source="MONDO:superClassOf", source="ORDO:98976/btnt"} -xref: OMIM:613086 {source="Orphanet:98976", source="MONDO:superClassOf", source="ORDO:98976/btnt"} +xref: OMIM:231300 {source="Orphanet:98976", source="MONDO:superClassOf", source="Orphanet:98976/e"} +xref: OMIM:600975 {source="Orphanet:98976/btnt", source="Orphanet:98976", source="MONDO:superClassOf"} +xref: OMIM:613085 {source="Orphanet:98976/btnt", source="Orphanet:98976", source="MONDO:superClassOf"} +xref: OMIM:613086 {source="Orphanet:98976/btnt", source="Orphanet:98976", source="MONDO:superClassOf"} xref: OMIM:617272 {source="Orphanet:98976", source="MONDO:superClassOf"} xref: Orphanet:98976 {source="MONDO:equivalentTo"} xref: SCTID:204113001 {source="MONDO:equivalentTo"} @@ -388394,13 +388231,13 @@ synonym: "juvenile glaucoma" EXACT [] synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:1068 {source="MONDO:equivalentTo"} xref: ICD9:365.14 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10064032 {source="ORDO:98977/e", source="Orphanet:98977"} -xref: OMIM:137750 {source="MONDO:superClassOf", source="Orphanet:98977", source="ORDO:98977/btnt"} -xref: OMIM:231300 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:98977", source="ORDO:98977/ntbt"} -xref: OMIM:608695 {source="MONDO:superClassOf", source="Orphanet:98977", source="ORDO:98977/btnt"} -xref: OMIM:608696 {source="MONDO:superClassOf", source="Orphanet:98977", source="ORDO:98977/btnt"} -xref: OMIM:610535 {source="MONDO:superClassOf", source="Orphanet:98977", source="ORDO:98977/btnt"} -xref: OMIM:611274 {source="MONDO:superClassOf", source="Orphanet:98977", source="ORDO:98977/btnt"} +xref: MedDRA:10064032 {source="Orphanet:98977", source="Orphanet:98977/e"} +xref: OMIM:137750 {source="MONDO:superClassOf", source="Orphanet:98977", source="Orphanet:98977/btnt"} +xref: OMIM:231300 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:98977", source="Orphanet:98977/ntbt"} +xref: OMIM:608695 {source="MONDO:superClassOf", source="Orphanet:98977", source="Orphanet:98977/btnt"} +xref: OMIM:608696 {source="MONDO:superClassOf", source="Orphanet:98977", source="Orphanet:98977/btnt"} +xref: OMIM:610535 {source="MONDO:superClassOf", source="Orphanet:98977", source="Orphanet:98977/btnt"} +xref: OMIM:611274 {source="MONDO:superClassOf", source="Orphanet:98977", source="Orphanet:98977/btnt"} xref: Orphanet:98977 {source="MONDO:equivalentTo"} xref: SCTID:71111008 {source="MONDO:equivalentTo"} xref: UMLS:C2981140 {source="MONDO:equivalentTo", source="Orphanet:98977"} @@ -388414,14 +388251,14 @@ id: MONDO:0020368 name: Axenfeld anomaly def: "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies." [Orphanet:98978] subset: ordo_morphological_anomaly {source="Orphanet:98978"} -xref: ICD10CM:Q15.0 {source="ORDO:98978/index", source="ORDO:98978/ntbt", source="Orphanet:98978"} +xref: ICD10CM:Q15.0 {source="Orphanet:98978", source="Orphanet:98978/index", source="Orphanet:98978/ntbt"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10058653 {source="ORDO:98978/e", source="Orphanet:98978"} -xref: OMIM:601631 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:98978/ntbt", source="Orphanet:98978"} -xref: OMIM:602482 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:98978/ntbt", source="Orphanet:98978"} +xref: MedDRA:10058653 {source="Orphanet:98978", source="Orphanet:98978/e"} +xref: OMIM:601631 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:98978", source="Orphanet:98978/ntbt"} +xref: OMIM:602482 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:98978", source="Orphanet:98978/ntbt"} xref: Orphanet:98978 {source="MONDO:equivalentTo"} xref: SCTID:204152008 {source="MONDO:equivalentTo"} -xref: UMLS:C0266548 {source="ORDO:98978/e", source="Orphanet:98978", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0266548 {source="Orphanet:98978", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98978/e"} is_a: MONDO:0020218 {source="Orphanet:98978"} ! goniodysgenesis property_value: confidence "0.9131875999999999" xsd:double @@ -388437,9 +388274,9 @@ synonym: "posterior membrane corneal dystrophy" EXACT [DOID:11554] xref: DOID:11554 {source="MONDO:equivalentTo"} xref: GARD:0006033 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10CM:H18.51 {source="DOID:11554"} -xref: ICD10CM:H21.2 {source="ORDO:98979/attributed", source="ORDO:98979/ntbt", source="Orphanet:98979"} +xref: ICD10CM:H21.2 {source="Orphanet:98979", source="Orphanet:98979/attributed", source="Orphanet:98979/ntbt"} xref: ICD9:371.57 {source="MONDO:directSiblingOf", source="DOID:11554"} -xref: MedDRA:10057487 {source="ORDO:98979/e", source="Orphanet:98979"} +xref: MedDRA:10057487 {source="Orphanet:98979", source="Orphanet:98979/e"} xref: MESH:D057129 {source="MONDO:subClassOf", source="DOID:11554"} xref: Orphanet:98979 {source="MONDO:equivalentTo"} xref: SCTID:16949007 {source="DOID:11554"} @@ -388447,7 +388284,7 @@ xref: SCTID:231935005 {source="DOID:11554"} xref: SCTID:392481002 {source="DOID:11554"} xref: SCTID:404632009 {source="DOID:11554"} xref: SCTID:416960004 {source="MONDO:directSiblingOf", source="DOID:11554"} -xref: UMLS:C0544008 {source="ORDO:98979/e", source="MONDO:equivalentTo", source="Orphanet:98979", source="DOID:11554"} +xref: UMLS:C0544008 {source="MONDO:equivalentTo", source="Orphanet:98979", source="DOID:11554", source="Orphanet:98979/e"} xref: UMLS:C1096100 {source="MONDO:subClassOf", source="Orphanet:98979"} is_a: MONDO:0018102 {source="DOID:11554", source="MONDO:Redundant"} ! corneal dystrophy is_a: MONDO:0018988 {source="Orphanet:98979"} ! iridocorneal endothelial syndrome @@ -388460,13 +388297,13 @@ subset: gard_rare {source="GARD:0006125"} subset: ordo_clinical_subtype {source="Orphanet:98980"} xref: DOID:0060217 {source="MONDO:equivalentTo"} xref: GARD:0006125 {source="MONDO:equivalentTo"} -xref: ICD10CM:H21.2 {source="ORDO:98980/attributed", source="ORDO:98980/ntbt", source="Orphanet:98980"} -xref: MedDRA:10059200 {source="DOID:0060217", source="ORDO:98980/e", source="Orphanet:98980"} +xref: ICD10CM:H21.2 {source="Orphanet:98980/attributed", source="Orphanet:98980/ntbt", source="Orphanet:98980"} +xref: MedDRA:10059200 {source="Orphanet:98980/e", source="DOID:0060217", source="Orphanet:98980"} xref: NCIT:C84644 {source="MONDO:equivalentTo", source="DOID:0060217"} xref: Orphanet:98980 {source="MONDO:equivalentTo", source="DOID:0060217"} xref: SCTID:129624009 {source="DOID:0060217"} xref: SCTID:404633004 {source="MONDO:equivalentTo", source="DOID:0060217"} -xref: UMLS:C1168173 {source="NCIT:C84644", source="MONDO:equivalentTo", source="DOID:0060217", source="ORDO:98980/e", source="Orphanet:98980"} +xref: UMLS:C1168173 {source="NCIT:C84644", source="Orphanet:98980/e", source="MONDO:equivalentTo", source="DOID:0060217", source="Orphanet:98980"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84644", source="indirect"} ! syndromic disease is_a: MONDO:0018988 {source="Orphanet:98980", source="linkedlifedata"} ! iridocorneal endothelial syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome xsd:anyURI {source="GARD:0006125"} @@ -388476,7 +388313,7 @@ id: MONDO:0020371 name: essential iris atrophy def: "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." [Orphanet:98981] subset: ordo_clinical_subtype {source="Orphanet:98981"} -xref: ICD10CM:H21.2 {source="ORDO:98981/inclusion", source="ORDO:98981/ntbt", source="Orphanet:98981"} +xref: ICD10CM:H21.2 {source="Orphanet:98981/ntbt", source="Orphanet:98981/inclusion", source="Orphanet:98981"} xref: ICD9:364.51 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:98981 {source="MONDO:equivalentTo"} xref: SCTID:25913001 {source="MONDO:equivalentTo"} @@ -388489,8 +388326,8 @@ id: MONDO:0020372 name: early-onset sutural cataract subset: ordo_clinical_subtype {source="Orphanet:98985"} synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [Orphanet:98985] -xref: ICD10CM:Q12.0 {source="Orphanet:98985", source="ORDO:98985/attributed", source="ORDO:98985/ntbt"} -xref: OMIM:605728 {source="Orphanet:98985", source="MONDO:superClassOf", source="ORDO:98985/btnt"} +xref: ICD10CM:Q12.0 {source="Orphanet:98985", source="Orphanet:98985/attributed", source="Orphanet:98985/ntbt"} +xref: OMIM:605728 {source="Orphanet:98985", source="Orphanet:98985/btnt", source="MONDO:superClassOf"} xref: Orphanet:98985 {source="MONDO:equivalentTo"} xref: UMLS:C1854021 {source="Orphanet:98985", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0020379 {source="Orphanet:98985"} ! early-onset zonular cataract @@ -388502,11 +388339,11 @@ subset: ordo_clinical_subtype {source="Orphanet:98988"} synonym: "cataract anterior polar" RELATED [GARD:0001140] synonym: "early-onset anterior subcapsular cataract" EXACT [Orphanet:98988] xref: GARD:0001140 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q12.0 {source="Orphanet:98988", source="ORDO:98988/attributed", source="ORDO:98988/ntbt"} -xref: MESH:C538282 {source="ORDO:98988/e", source="Orphanet:98988"} -xref: OMIM:601202 {source="MONDO:superClassOf", source="Orphanet:98988", source="ORDO:98988/btnt"} +xref: ICD10CM:Q12.0 {source="Orphanet:98988", source="Orphanet:98988/attributed", source="Orphanet:98988/ntbt"} +xref: MESH:C538282 {source="Orphanet:98988", source="Orphanet:98988/e"} +xref: OMIM:601202 {source="MONDO:superClassOf", source="Orphanet:98988", source="Orphanet:98988/btnt"} xref: Orphanet:98988 {source="MONDO:equivalentTo"} -xref: UMLS:C1855179 {source="ORDO:98988/e", source="MONDO:equivalentTo", source="Orphanet:98988"} +xref: UMLS:C1855179 {source="MONDO:equivalentTo", source="Orphanet:98988", source="Orphanet:98988/e"} is_a: MONDO:0020377 {source="Orphanet:98988"} ! early-onset partial cataract [Term] @@ -388518,11 +388355,11 @@ synonym: "blue-dot cataract" EXACT [Orphanet:98989] synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508] synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508] xref: GARD:0009508 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q12.0 {source="ORDO:98989/index", source="ORDO:98989/ntbt", source="Orphanet:98989"} +xref: ICD10CM:Q12.0 {source="Orphanet:98989", source="Orphanet:98989/index", source="Orphanet:98989/ntbt"} xref: ICD9:743.39 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537955 {source="ORDO:98989/e", source="MONDO:equivalentTo", source="Orphanet:98989"} -xref: OMIM:115660 {source="ORDO:98989/btnt", source="Orphanet:98989", source="MONDO:superClassOf"} -xref: OMIM:614422 {source="ORDO:98989/btnt", source="Orphanet:98989", source="MONDO:superClassOf"} +xref: MESH:C537955 {source="MONDO:equivalentTo", source="Orphanet:98989", source="Orphanet:98989/e"} +xref: OMIM:115660 {source="Orphanet:98989", source="MONDO:superClassOf", source="Orphanet:98989/btnt"} +xref: OMIM:614422 {source="Orphanet:98989", source="MONDO:superClassOf", source="Orphanet:98989/btnt"} xref: Orphanet:98989 {source="MONDO:equivalentTo"} xref: SCTID:204138006 {source="MONDO:equivalentTo"} xref: UMLS:C0344523 {source="Orphanet:98989", source="MONDO:notFoundInDiseaseSubset"} @@ -388532,8 +388369,8 @@ is_a: MONDO:0020377 {source="Orphanet:98989"} ! early-onset partial cataract id: MONDO:0020375 name: coralliform cataract subset: ordo_clinical_subtype {source="Orphanet:98990"} -xref: ICD10CM:Q12.0 {source="ORDO:98990/attributed", source="ORDO:98990/ntbt", source="Orphanet:98990"} -xref: OMIM:115800 {source="ORDO:98990/btnt", source="MONDO:superClassOf", source="Orphanet:98990"} +xref: ICD10CM:Q12.0 {source="Orphanet:98990/attributed", source="Orphanet:98990/ntbt", source="Orphanet:98990"} +xref: OMIM:115800 {source="MONDO:superClassOf", source="Orphanet:98990/btnt", source="Orphanet:98990"} xref: Orphanet:98990 {source="MONDO:equivalentTo"} xref: UMLS:CN207246 {source="MONDO:equivalentTo"} is_a: MONDO:0020377 {source="Orphanet:98990"} ! early-onset partial cataract @@ -388542,18 +388379,18 @@ is_a: MONDO:0020377 {source="Orphanet:98990"} ! early-onset partial cataract id: MONDO:0020376 name: early-onset nuclear cataract subset: ordo_clinical_subtype {source="Orphanet:98991"} -xref: ICD10CM:Q12.0 {source="ORDO:98991/attributed", source="ORDO:98991/ntbt", source="Orphanet:98991"} -xref: MedDRA:10007759 {source="ORDO:98991/e", source="Orphanet:98991"} -xref: MedDRA:10057735 {source="ORDO:98991/e", source="Orphanet:98991"} +xref: ICD10CM:Q12.0 {source="Orphanet:98991/attributed", source="Orphanet:98991/ntbt", source="Orphanet:98991"} +xref: MedDRA:10007759 {source="Orphanet:98991/e", source="Orphanet:98991"} +xref: MedDRA:10057735 {source="Orphanet:98991/e", source="Orphanet:98991"} xref: MESH:C563333 {source="MONDO:equivalentTo"} -xref: OMIM:116400 {source="ORDO:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} -xref: OMIM:607304 {source="ORDO:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} -xref: OMIM:609376 {source="ORDO:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} -xref: OMIM:610019 {source="ORDO:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} +xref: OMIM:116400 {source="Orphanet:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} +xref: OMIM:607304 {source="Orphanet:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} +xref: OMIM:609376 {source="Orphanet:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} +xref: OMIM:610019 {source="Orphanet:98991/btnt", source="MONDO:superClassOf", source="Orphanet:98991"} xref: OMIM:611391 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:98991"} xref: Orphanet:98991 {source="MONDO:equivalentTo"} -xref: UMLS:C0392557 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98991/e", source="Orphanet:98991"} -xref: UMLS:C1112705 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:98991/e", source="Orphanet:98991"} +xref: UMLS:C0392557 {source="Orphanet:98991/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98991"} +xref: UMLS:C1112705 {source="Orphanet:98991/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98991"} xref: UMLS:CN207247 {source="MONDO:equivalentTo"} is_a: MONDO:0020379 {source="Orphanet:98991"} ! early-onset zonular cataract @@ -388561,18 +388398,18 @@ is_a: MONDO:0020379 {source="Orphanet:98991"} ! early-onset zonular cataract id: MONDO:0020377 name: early-onset partial cataract subset: ordo_clinical_subtype {source="Orphanet:98992"} -xref: ICD10CM:Q12.0 {source="ORDO:98992/attributed", source="ORDO:98992/ntbt", source="Orphanet:98992"} -xref: OMIM:115660 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:115800 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:116300 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:116400 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:601202 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:605728 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:607304 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:609376 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:610019 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:613763 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} -xref: OMIM:614422 {source="MONDO:superClassOf", source="ORDO:98992/btnt", source="Orphanet:98992"} +xref: ICD10CM:Q12.0 {source="Orphanet:98992/attributed", source="Orphanet:98992/ntbt", source="Orphanet:98992"} +xref: OMIM:115660 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:115800 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:116300 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:116400 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:601202 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:605728 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:607304 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:609376 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:610019 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:613763 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} +xref: OMIM:614422 {source="MONDO:superClassOf", source="Orphanet:98992/btnt", source="Orphanet:98992"} xref: Orphanet:98992 {source="MONDO:equivalentTo"} xref: UMLS:CN207248 {source="MONDO:equivalentTo"} is_a: MONDO:0011060 {source="Orphanet:98992"} ! early-onset non-syndromic cataract @@ -388581,8 +388418,8 @@ is_a: MONDO:0011060 {source="Orphanet:98992"} ! early-onset non-syndromic catara id: MONDO:0020378 name: early-onset posterior polar cataract subset: ordo_clinical_subtype {source="Orphanet:98993"} -xref: ICD10CM:Q12.0 {source="Orphanet:98993", source="ORDO:98993/attributed", source="ORDO:98993/ntbt"} -xref: OMIM:613763 {source="MONDO:subClassOf", source="Orphanet:98993", source="ORDO:98993/ntbt"} +xref: ICD10CM:Q12.0 {source="Orphanet:98993", source="Orphanet:98993/attributed", source="Orphanet:98993/ntbt"} +xref: OMIM:613763 {source="MONDO:subClassOf", source="Orphanet:98993", source="Orphanet:98993/ntbt"} xref: Orphanet:98993 {source="MONDO:equivalentTo"} xref: UMLS:C0858617 {source="Orphanet:98993", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0013411 ! cataract 16 multiple types @@ -388594,15 +388431,15 @@ name: early-onset zonular cataract subset: gard_rare {source="GARD:0001898"} subset: ordo_clinical_subtype {source="Orphanet:98995"} xref: GARD:0001898 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q12.0 {source="Orphanet:98995", source="ORDO:98995/attributed", source="ORDO:98995/ntbt"} -xref: MESH:C535342 {source="MONDO:relatedTo", source="Orphanet:98995", source="ORDO:98995/e"} -xref: OMIM:116400 {source="Orphanet:98995", source="MONDO:superClassOf", source="ORDO:98995/btnt"} +xref: ICD10CM:Q12.0 {source="Orphanet:98995/attributed", source="Orphanet:98995/ntbt", source="Orphanet:98995"} +xref: MESH:C535342 {source="MONDO:relatedTo", source="Orphanet:98995", source="Orphanet:98995/e"} +xref: OMIM:116400 {source="Orphanet:98995/btnt", source="Orphanet:98995", source="MONDO:superClassOf"} xref: OMIM:116800 {source="MONDO:relatedTo", source="GARD:0001898"} -xref: OMIM:605728 {source="Orphanet:98995", source="MONDO:superClassOf", source="ORDO:98995/btnt"} -xref: OMIM:607304 {source="Orphanet:98995", source="MONDO:superClassOf", source="ORDO:98995/btnt"} -xref: OMIM:609376 {source="Orphanet:98995", source="MONDO:superClassOf", source="ORDO:98995/btnt"} -xref: OMIM:610019 {source="Orphanet:98995", source="MONDO:superClassOf", source="ORDO:98995/btnt"} -xref: OMIM:613763 {source="Orphanet:98995", source="MONDO:superClassOf", source="ORDO:98995/btnt"} +xref: OMIM:605728 {source="Orphanet:98995/btnt", source="Orphanet:98995", source="MONDO:superClassOf"} +xref: OMIM:607304 {source="Orphanet:98995/btnt", source="Orphanet:98995", source="MONDO:superClassOf"} +xref: OMIM:609376 {source="Orphanet:98995/btnt", source="Orphanet:98995", source="MONDO:superClassOf"} +xref: OMIM:610019 {source="Orphanet:98995/btnt", source="Orphanet:98995", source="MONDO:superClassOf"} +xref: OMIM:613763 {source="Orphanet:98995/btnt", source="Orphanet:98995", source="MONDO:superClassOf"} xref: Orphanet:98995 {source="MONDO:equivalentTo"} xref: UMLS:C0266537 {source="GARD:0001898", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN207251 {source="MONDO:equivalentTo"} @@ -388624,7 +388461,7 @@ synonym: "SCA" BROAD ABBREVIATION [] synonym: "spinocerebellar ataxia" BROAD [DOID:1441] xref: DOID:1441 {source="MONDO:equivalentTo"} xref: GARD:0004346 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.8 {source="Orphanet:99", source="ORDO:99/attributed", source="ORDO:99/ntbt"} +xref: ICD10CM:G11.8 {source="Orphanet:99/attributed", source="Orphanet:99/ntbt", source="Orphanet:99"} xref: ICD9:334.3 {source="DOID:1441", source="MONDO:relatedTo", source="i2s"} xref: MESH:D020754 {source="DOID:1441"} xref: NCIT:C82341 {source="DOID:1441"} @@ -388655,10 +388492,10 @@ def: "A macular degeneration characterized by abnormal accumulation of lipofusci synonym: "macular dystrophy, patterned" EXACT [OMIMPS:169150] synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [DOID:0060863] xref: DOID:0060863 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="ORDO:99001/attributed", source="ORDO:99001/ntbt", source="MONDO:relatedTo", source="DOID:0060863", source="Orphanet:99001"} -xref: OMIM:169150 {source="ORDO:99001/btnt", source="MONDO:superClassOf", source="Orphanet:99001"} -xref: OMIM:608970 {source="ORDO:99001/btnt", source="MONDO:superClassOf", source="Orphanet:99001"} -xref: OMIM:610125 {source="MONDO:subClassOf", source="ORDO:99001/ntbt", source="MONDO:relatedTo", source="Orphanet:99001"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0060863", source="Orphanet:99001/attributed", source="Orphanet:99001/ntbt", source="Orphanet:99001"} +xref: OMIM:169150 {source="MONDO:superClassOf", source="Orphanet:99001/btnt", source="Orphanet:99001"} +xref: OMIM:608970 {source="MONDO:superClassOf", source="Orphanet:99001/btnt", source="Orphanet:99001"} +xref: OMIM:610125 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:99001/ntbt", source="Orphanet:99001"} xref: OMIMPS:169150 {source="MONDO:equivalentTo", source="DOID:0060863"} xref: Orphanet:99001 {source="MONDO:relatedTo", source="DOID:0060863"} xref: SCTID:725590001 {source="MONDO:directSiblingOf"} @@ -388676,7 +388513,7 @@ name: multifocal pattern dystrophy simulating fundus flavimaculatus def: "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99003] subset: ordo_disease {source="Orphanet:99003"} synonym: "multifocal pattern dystrophy simulating Stargardt disease" EXACT [Orphanet:99003] -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:99003/attributed", source="ORDO:99003/ntbt", source="Orphanet:99003"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99003/attributed", source="Orphanet:99003/ntbt", source="Orphanet:99003"} xref: Orphanet:99003 {source="MONDO:equivalentTo"} xref: SCTID:723408004 {source="MONDO:equivalentTo"} xref: UMLS:CN207256 {source="MONDO:equivalentTo"} @@ -388687,7 +388524,7 @@ id: MONDO:0020383 name: fundus pulverulentus def: "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." [Orphanet:99004] subset: ordo_disease {source="Orphanet:99004"} -xref: ICD10CM:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="ORDO:99004/attributed", source="ORDO:99004/ntbt"} +xref: ICD10CM:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="Orphanet:99004/attributed", source="Orphanet:99004/ntbt"} xref: Orphanet:99004 {source="MONDO:equivalentTo"} xref: UMLS:CN207257 {source="MONDO:equivalentTo"} is_a: MONDO:0018973 {source="Orphanet:99004"} ! patterned dystrophy of the retinal pigment epithelium @@ -388697,11 +388534,11 @@ id: MONDO:0020384 name: Niemann-Pick disease type E def: "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." [Orphanet:99022] subset: ordo_disease {source="Orphanet:99022"} -xref: ICD10CM:E75.2 {source="ORDO:99022/attributed", source="ORDO:99022/ntbt", source="Orphanet:99022"} -xref: OMIM:607616 {source="MONDO:subClassOf", source="ORDO:99022/ntbt", source="MONDO:directSiblingOf", source="Orphanet:99022"} +xref: ICD10CM:E75.2 {source="Orphanet:99022/attributed", source="Orphanet:99022/ntbt", source="Orphanet:99022"} +xref: OMIM:607616 {source="MONDO:subClassOf", source="Orphanet:99022/ntbt", source="MONDO:directSiblingOf", source="Orphanet:99022"} xref: Orphanet:99022 {source="MONDO:equivalentTo"} xref: SCTID:73399005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268248 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99022/e", source="Orphanet:99022"} +xref: UMLS:C0268248 {source="Orphanet:99022/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99022"} is_a: MONDO:0001982 {source="MONDO:cjm", source="Orphanet:99022", source="linkedlifedata"} ! Niemann-Pick disease property_value: confidence "4.9333333333333345" xsd:double @@ -388711,7 +388548,7 @@ name: congenitally uncorrected transposition of the great arteries with coarctat subset: ordo_clinical_subtype {source="Orphanet:99042"} synonym: "congenitally uncorrected transposition of the great vessels with coarctation" EXACT [Orphanet:99042] synonym: "TGA with coarctation" EXACT [Orphanet:99042] -xref: ICD10CM:Q20.3 {source="ORDO:99042/attributed", source="ORDO:99042/ntbt", source="Orphanet:99042"} +xref: ICD10CM:Q20.3 {source="Orphanet:99042/attributed", source="Orphanet:99042/ntbt", source="Orphanet:99042"} xref: Orphanet:99042 {source="MONDO:equivalentTo"} is_a: MONDO:0019443 {source="Orphanet:99042"} ! dextro-looped transposition of the great arteries relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -388724,8 +388561,8 @@ subset: ordo_clinical_subtype {source="Orphanet:99043"} synonym: "DORV with subaortic or doubly committed VSD with pulmonary stenosis" EXACT [Orphanet:99043] synonym: "DORV, Fallot type" EXACT [Orphanet:99043] synonym: "double outlet right ventricle, Fallot type" EXACT [Orphanet:99043] -xref: ICD10CM:Q20.1 {source="ORDO:99043/attributed", source="ORDO:99043/ntbt", source="Orphanet:99043"} -xref: ICD10CM:Q21.3 {source="ORDO:99043/attributed", source="ORDO:99043/ntbt", source="MONDO:relatedTo", source="Orphanet:99043"} +xref: ICD10CM:Q20.1 {source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"} +xref: ICD10CM:Q21.3 {source="MONDO:relatedTo", source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"} xref: Orphanet:99043 {source="MONDO:equivalentTo"} xref: SCTID:253298003 {source="MONDO:equivalentTo"} xref: UMLS:C1956411 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99043"} @@ -388739,7 +388576,7 @@ synonym: "DORV with subpulmonary VSD" EXACT [Orphanet:99045] synonym: "DORV-TGA" EXACT [Orphanet:99045] synonym: "Double outlet right ventricle with transposition of the great arteries" EXACT [Orphanet:99045] synonym: "Taussig-Bing syndrome" EXACT [Orphanet:99045] -xref: ICD10CM:Q20.1 {source="ORDO:99045/attributed", source="ORDO:99045/ntbt", source="Orphanet:99045"} +xref: ICD10CM:Q20.1 {source="Orphanet:99045/attributed", source="Orphanet:99045/ntbt", source="Orphanet:99045"} xref: Orphanet:99045 {source="MONDO:equivalentTo"} xref: SCTID:448794008 {source="MONDO:equivalentTo"} xref: UMLS:C1956412 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99045"} @@ -388752,7 +388589,7 @@ id: MONDO:0020388 name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect subset: ordo_clinical_subtype {source="Orphanet:99046"} synonym: "DORV with non-committed subpulmonary VSD" EXACT [Orphanet:99046] -xref: ICD10CM:Q20.1 {source="ORDO:99046/attributed", source="ORDO:99046/ntbt", source="Orphanet:99046"} +xref: ICD10CM:Q20.1 {source="Orphanet:99046/attributed", source="Orphanet:99046/ntbt", source="Orphanet:99046"} xref: Orphanet:99046 {source="MONDO:equivalentTo"} is_a: MONDO:0018089 {source="Orphanet:99046"} ! double outlet right ventricle @@ -388764,7 +388601,7 @@ synonym: "absence of pulmonary valve-ventricular septal defect-persistent ductus synonym: "APV/PDA, non-Fallot type" EXACT [Orphanet:99048] synonym: "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" RELATED [Orphanet:99048] synonym: "PVA/PDA, non-Fallot type" EXACT [Orphanet:99048] -xref: ICD10CM:Q22.2 {source="Orphanet:99048", source="ORDO:99048/ntbt"} +xref: ICD10CM:Q22.2 {source="Orphanet:99048", source="Orphanet:99048/ntbt"} xref: Orphanet:99048 {source="MONDO:equivalentTo"} xref: UMLS:CN207270 {source="MONDO:equivalentTo"} is_a: MONDO:0020064 {source="Orphanet:99048"} ! pulmonary valve agenesis @@ -388773,7 +388610,7 @@ is_a: MONDO:0020064 {source="Orphanet:99048"} ! pulmonary valve agenesis id: MONDO:0020390 name: pulmonary artery coming from patent ductus arteriosus subset: ordo_morphological_anomaly {source="Orphanet:99049"} -xref: ICD10CM:Q25.7 {source="Orphanet:99049", source="ORDO:99049/ntbt"} +xref: ICD10CM:Q25.7 {source="Orphanet:99049", source="Orphanet:99049/ntbt"} xref: Orphanet:99049 {source="MONDO:equivalentTo"} is_a: MONDO:0015239 {source="Orphanet:99049"} ! abnormal origin of the pulmonary artery @@ -388786,7 +388623,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99050"} synonym: "abnormal origin of right or left pulmonary artery from the aorta" EXACT [Orphanet:99050] synonym: "hemitruncus arteriosus" EXACT [Orphanet:99050] xref: GARD:0004586 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q25.7 {source="ORDO:99050/ntbt", source="Orphanet:99050"} +xref: ICD10CM:Q25.7 {source="Orphanet:99050", source="Orphanet:99050/ntbt"} xref: Orphanet:99050 {source="MONDO:equivalentTo"} is_a: MONDO:0015239 {source="Orphanet:99050"} ! abnormal origin of the pulmonary artery property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta xsd:anyURI {source="GARD:0004586"} @@ -388795,8 +388632,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4586/pulmonar id: MONDO:0020392 name: discrete fixed membranous subaortic stenosis subset: ordo_clinical_subtype {source="Orphanet:99051"} -xref: ICD10CM:Q24.4 {source="ORDO:99051/ntbt", source="Orphanet:99051"} -xref: OMIM:271950 {source="MONDO:superClassOf", source="ORDO:99051/btnt", source="Orphanet:99051"} +xref: ICD10CM:Q24.4 {source="Orphanet:99051", source="Orphanet:99051/ntbt"} +xref: OMIM:271950 {source="MONDO:superClassOf", source="Orphanet:99051", source="Orphanet:99051/btnt"} xref: Orphanet:99051 {source="MONDO:equivalentTo"} is_a: MONDO:0017727 {source="Orphanet:99051"} ! fixed subaortic stenosis @@ -388804,7 +388641,7 @@ is_a: MONDO:0017727 {source="Orphanet:99051"} ! fixed subaortic stenosis id: MONDO:0020393 name: discrete fibromuscular subaortic stenosis subset: ordo_clinical_subtype {source="Orphanet:99052"} -xref: ICD10CM:Q24.4 {source="ORDO:99052/ntbt", source="Orphanet:99052"} +xref: ICD10CM:Q24.4 {source="Orphanet:99052", source="Orphanet:99052/ntbt"} xref: Orphanet:99052 {source="MONDO:equivalentTo"} is_a: MONDO:0017727 {source="Orphanet:99052"} ! fixed subaortic stenosis @@ -388812,7 +388649,7 @@ is_a: MONDO:0017727 {source="Orphanet:99052"} ! fixed subaortic stenosis id: MONDO:0020394 name: tunnel subaortic stenosis subset: ordo_clinical_subtype {source="Orphanet:99053"} -xref: ICD10CM:Q24.4 {source="ORDO:99053/ntbt", source="Orphanet:99053"} +xref: ICD10CM:Q24.4 {source="Orphanet:99053/ntbt", source="Orphanet:99053"} xref: Orphanet:99053 {source="MONDO:equivalentTo"} is_a: MONDO:0017727 {source="Orphanet:99053"} ! fixed subaortic stenosis @@ -388821,12 +388658,12 @@ id: MONDO:0020395 name: valvar pulmonary stenosis def: "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." [ICD9:746.02] subset: ordo_clinical_subtype {source="Orphanet:99054"} -xref: ICD10CM:Q22.1 {source="MONDO:subClassOf", source="ORDO:99054/ntbt", source="Orphanet:99054"} +xref: ICD10CM:Q22.1 {source="MONDO:subClassOf", source="Orphanet:99054", source="Orphanet:99054/ntbt"} xref: ICD9:746.02 {source="MONDO:equivalentTo"} -xref: MedDRA:10037450 {source="ORDO:99054/e", source="Orphanet:99054"} -xref: MESH:D011666 {source="MONDO:relatedTo", source="ORDO:99054/e", source="Orphanet:99054"} +xref: MedDRA:10037450 {source="Orphanet:99054/e", source="Orphanet:99054"} +xref: MESH:D011666 {source="Orphanet:99054/e", source="MONDO:relatedTo", source="Orphanet:99054"} xref: Orphanet:99054 {source="MONDO:equivalentTo"} -xref: UMLS:C0034089 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99054/e", source="Orphanet:99054"} +xref: UMLS:C0034089 {source="Orphanet:99054/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99054"} is_a: MONDO:0017865 {source="Orphanet:99054"} ! congenital pulmonary valve stenosis [Term] @@ -388834,7 +388671,7 @@ id: MONDO:0020396 name: anomaly of the tricuspid valve chordae def: "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." [Orphanet:99055] subset: ordo_morphological_anomaly {source="Orphanet:99055"} -xref: ICD10CM:Q22.8 {source="ORDO:99055/ntbt", source="Orphanet:99055"} +xref: ICD10CM:Q22.8 {source="Orphanet:99055/ntbt", source="Orphanet:99055"} xref: Orphanet:99055 {source="MONDO:equivalentTo"} is_a: MONDO:0019816 {source="Orphanet:99055"} ! anomaly of the tricuspid subvalvular apparatus @@ -388843,7 +388680,7 @@ id: MONDO:0020397 name: parachute tricuspid valve def: "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." [Orphanet:99056] subset: ordo_morphological_anomaly {source="Orphanet:99056"} -xref: ICD10CM:Q22.8 {source="ORDO:99056/ntbt", source="Orphanet:99056"} +xref: ICD10CM:Q22.8 {source="Orphanet:99056/ntbt", source="Orphanet:99056"} xref: Orphanet:99056 {source="MONDO:equivalentTo"} is_a: MONDO:0019816 {source="Orphanet:99056"} ! anomaly of the tricuspid subvalvular apparatus @@ -388859,7 +388696,7 @@ synonym: "congenital mitral valve stenosis" EXACT [] synonym: "hereditary mitral valve stenosis" EXACT [MONDO:patterns/hereditary] xref: GARD:0001496 {source="MONDO:equivalentTo"} xref: HP:0011570 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q23.2 {source="MONDO:equivalentTo", source="ORDO:99057/e", source="Orphanet:99057"} +xref: ICD10CM:Q23.2 {source="Orphanet:99057/e", source="MONDO:equivalentTo", source="Orphanet:99057"} xref: ICD9:746.5 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:99057 {source="MONDO:equivalentTo"} xref: SCTID:82458004 {source="MONDO:equivalentTo"} @@ -388876,11 +388713,11 @@ id: MONDO:0020399 name: congenital hypoplasia of the mitral valve annulus def: "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." [Orphanet:99058] subset: ordo_morphological_anomaly {source="Orphanet:99058"} -xref: ICD10CM:Q23.2 {source="MONDO:directSiblingOf", source="ORDO:99058/ntbt", source="Orphanet:99058"} +xref: ICD10CM:Q23.2 {source="Orphanet:99058/ntbt", source="MONDO:directSiblingOf", source="Orphanet:99058"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99058 {source="MONDO:equivalentTo"} xref: SCTID:449270002 {source="MONDO:equivalentTo"} -xref: UMLS:C3165203 {source="MONDO:equivalentTo", source="ORDO:99058/e", source="Orphanet:99058"} +xref: UMLS:C3165203 {source="Orphanet:99058/e", source="MONDO:equivalentTo", source="Orphanet:99058"} is_a: MONDO:0019817 {source="Orphanet:99058"} ! congenital mitral valve insufficiency and/or stenosis relationship: disease_has_feature HP:0001718 ! Mitral stenosis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -388891,7 +388728,7 @@ id: MONDO:0020400 name: congenital supravalvular mitral ring def: "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." [Orphanet:99059] subset: ordo_morphological_anomaly {source="Orphanet:99059"} -xref: ICD10CM:Q23.2 {source="Orphanet:99059", source="MONDO:directSiblingOf", source="ORDO:99059/ntbt"} +xref: ICD10CM:Q23.2 {source="Orphanet:99059", source="Orphanet:99059/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:99059 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99059"} ! congenital mitral valve insufficiency and/or stenosis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -388902,7 +388739,7 @@ id: MONDO:0020401 name: congenital unguarded mitral orifice def: "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." [Orphanet:99060] subset: ordo_morphological_anomaly {source="Orphanet:99060"} -xref: ICD10CM:Q23.3 {source="Orphanet:99060", source="ORDO:99060/ntbt"} +xref: ICD10CM:Q23.3 {source="Orphanet:99060", source="Orphanet:99060/ntbt"} xref: Orphanet:99060 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99060"} ! congenital mitral valve insufficiency and/or stenosis relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -388913,7 +388750,7 @@ id: MONDO:0020402 name: congenital accessory mitral valve tissue def: "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." [Orphanet:99061] subset: ordo_morphological_anomaly {source="Orphanet:99061"} -xref: ICD10CM:Q23.8 {source="ORDO:99061/ntbt", source="Orphanet:99061"} +xref: ICD10CM:Q23.8 {source="Orphanet:99061", source="Orphanet:99061/ntbt"} xref: Orphanet:99061 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99061"} ! congenital mitral valve insufficiency and/or stenosis @@ -388922,7 +388759,7 @@ id: MONDO:0020403 name: congenital mitral valve agenesis def: "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." [Orphanet:99062] subset: ordo_morphological_anomaly {source="Orphanet:99062"} -xref: ICD10CM:Q23.3 {source="ORDO:99062/ntbt", source="Orphanet:99062"} +xref: ICD10CM:Q23.3 {source="Orphanet:99062", source="Orphanet:99062/ntbt"} xref: Orphanet:99062 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99062"} ! congenital mitral valve insufficiency and/or stenosis @@ -388933,13 +388770,13 @@ def: "A congenital cardiovascular abnormality characterized by the presence of s subset: ordo_malformation_syndrome {source="Orphanet:99063"} synonym: "shone syndrome" EXACT [NCIT:C99058] synonym: "shone's syndrome (greater than 3 sites)" EXACT [NCIT:C99058] -xref: ICD10CM:Q23.8 {source="ORDO:99063/ntbt", source="Orphanet:99063"} +xref: ICD10CM:Q23.8 {source="Orphanet:99063", source="Orphanet:99063/ntbt"} xref: ICD9:746.84 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10066802 {source="ORDO:99063/e", source="Orphanet:99063"} +xref: MedDRA:10066802 {source="Orphanet:99063", source="Orphanet:99063/e"} xref: NCIT:C99058 {source="MONDO:equivalentTo"} xref: Orphanet:99063 {source="MONDO:equivalentTo"} xref: SCTID:41371000119100 {source="MONDO:equivalentTo"} -xref: UMLS:C1868705 {source="MONDO:equivalentTo", source="ORDO:99063/e", source="Orphanet:99063"} +xref: UMLS:C1868705 {source="MONDO:equivalentTo", source="Orphanet:99063", source="Orphanet:99063/e"} is_a: MONDO:0002254 {source="NCIT:C99058"} ! syndromic disease is_a: MONDO:0019817 {source="Orphanet:99063"} ! congenital mitral valve insufficiency and/or stenosis is_a: MONDO:0024239 {source="NCIT:C99058", source="indirect", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system @@ -388948,7 +388785,7 @@ is_a: MONDO:0024239 {source="NCIT:C99058", source="indirect", source="linkedlife id: MONDO:0020405 name: straddling and/or overriding mitral valve subset: ordo_clinical_subtype {source="Orphanet:99064"} -xref: ICD10CM:Q23.8 {source="ORDO:99064/ntbt", source="Orphanet:99064"} +xref: ICD10CM:Q23.8 {source="Orphanet:99064/ntbt", source="Orphanet:99064"} xref: Orphanet:99064 {source="MONDO:equivalentTo"} is_a: MONDO:0019818 {source="Orphanet:99064"} ! cleft mitral valve @@ -388959,7 +388796,7 @@ subset: ordo_clinical_subtype {source="Orphanet:99066"} synonym: "CAVC type A" EXACT [Orphanet:99066] synonym: "CAVC-left heart obstruction syndrome" EXACT [Orphanet:99066] synonym: "complete atrioventricular canal type A" EXACT [Orphanet:99066] -xref: ICD10CM:Q21.2 {source="ORDO:99066/attributed", source="ORDO:99066/ntbt", source="Orphanet:99066"} +xref: ICD10CM:Q21.2 {source="Orphanet:99066/attributed", source="Orphanet:99066/ntbt", source="Orphanet:99066"} xref: Orphanet:99066 {source="MONDO:equivalentTo"} xref: UMLS:CN207278 {source="MONDO:equivalentTo"} is_a: MONDO:0015273 {source="Orphanet:99066"} ! complete atrioventricular canal @@ -388971,7 +388808,7 @@ subset: ordo_clinical_subtype {source="Orphanet:99067"} synonym: "CAVC type B" EXACT [Orphanet:99067] synonym: "CAVC-ventricle hypoplasia syndrome" EXACT [Orphanet:99067] synonym: "complete atrioventricular canal type B" EXACT [Orphanet:99067] -xref: ICD10CM:Q21.2 {source="ORDO:99067/attributed", source="ORDO:99067/ntbt", source="Orphanet:99067"} +xref: ICD10CM:Q21.2 {source="Orphanet:99067/attributed", source="Orphanet:99067/ntbt", source="Orphanet:99067"} xref: Orphanet:99067 {source="MONDO:equivalentTo"} xref: UMLS:CN207279 {source="MONDO:equivalentTo"} is_a: MONDO:0015273 {source="Orphanet:99067"} ! complete atrioventricular canal @@ -388983,7 +388820,7 @@ subset: ordo_clinical_subtype {source="Orphanet:99068"} synonym: "CAVC type C" EXACT [Orphanet:99068] synonym: "CAVC-Fallot tetralogy syndrome" EXACT [Orphanet:99068] synonym: "complete atrioventricular canal type C" EXACT [Orphanet:99068] -xref: ICD10CM:Q21.2 {source="ORDO:99068/attributed", source="ORDO:99068/ntbt", source="Orphanet:99068"} +xref: ICD10CM:Q21.2 {source="Orphanet:99068/attributed", source="Orphanet:99068/ntbt", source="Orphanet:99068"} xref: Orphanet:99068 {source="MONDO:equivalentTo"} xref: UMLS:CN207280 {source="MONDO:equivalentTo"} is_a: MONDO:0015273 {source="Orphanet:99068"} ! complete atrioventricular canal @@ -388992,7 +388829,7 @@ is_a: MONDO:0015273 {source="Orphanet:99068"} ! complete atrioventricular canal id: MONDO:0020409 name: univentricular heart with single atrio-ventricular valve subset: ordo_clinical_subtype {source="Orphanet:99069"} -xref: ICD10CM:Q20.4 {source="ORDO:99069/ntbt", source="Orphanet:99069"} +xref: ICD10CM:Q20.4 {source="Orphanet:99069/ntbt", source="Orphanet:99069"} xref: Orphanet:99069 {source="MONDO:equivalentTo"} is_a: MONDO:0015451 {source="Orphanet:99069"} ! univentricular heart @@ -389000,18 +388837,18 @@ is_a: MONDO:0015451 {source="Orphanet:99069"} ! univentricular heart id: MONDO:0020410 name: aorto-right ventricular tunnel subset: ordo_clinical_subtype {source="Orphanet:99070"} -xref: ICD10CM:Q20.8 {source="Orphanet:99070", source="ORDO:99070/ntbt"} +xref: ICD10CM:Q20.8 {source="Orphanet:99070/ntbt", source="Orphanet:99070"} xref: Orphanet:99070 {source="MONDO:equivalentTo"} -xref: UMLS:C0345055 {source="ORDO:99070/e", source="Orphanet:99070", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0345055 {source="Orphanet:99070", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99070/e"} is_a: MONDO:0018082 {source="Orphanet:99070"} ! aorto-ventricular tunnel [Term] id: MONDO:0020411 name: aorto-left ventricular tunnel subset: ordo_clinical_subtype {source="Orphanet:99071"} -xref: ICD10CM:Q20.8 {source="Orphanet:99071", source="ORDO:99071/ntbt"} +xref: ICD10CM:Q20.8 {source="Orphanet:99071", source="Orphanet:99071/ntbt"} xref: Orphanet:99071 {source="MONDO:equivalentTo"} -xref: UMLS:C0345054 {source="ORDO:99071/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99071"} +xref: UMLS:C0345054 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99071", source="Orphanet:99071/e"} is_a: MONDO:0018082 {source="Orphanet:99071"} ! aorto-ventricular tunnel [Term] @@ -389019,7 +388856,7 @@ id: MONDO:0020412 name: congenital patent ductus arteriosus aneurysm def: "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." [Orphanet:99072] subset: ordo_morphological_anomaly {source="Orphanet:99072"} -xref: ICD10CM:Q25.8 {source="ORDO:99072/ntbt", source="Orphanet:99072"} +xref: ICD10CM:Q25.8 {source="Orphanet:99072", source="Orphanet:99072/ntbt"} xref: Orphanet:99072 {source="MONDO:equivalentTo"} xref: SCTID:763316006 {source="MONDO:equivalentTo"} is_a: MONDO:0019822 {source="Orphanet:99072"} ! arterial duct anomaly @@ -389031,7 +388868,7 @@ id: MONDO:0020413 name: encircling double aortic arch def: "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." [Orphanet:99075] subset: ordo_morphological_anomaly {source="Orphanet:99075"} -xref: ICD10CM:Q25.4 {source="ORDO:99075/ntbt", source="Orphanet:99075"} +xref: ICD10CM:Q25.4 {source="Orphanet:99075/ntbt", source="Orphanet:99075"} xref: Orphanet:99075 {source="MONDO:equivalentTo"} xref: SCTID:764521002 {source="MONDO:equivalentTo"} is_a: MONDO:0015236 {source="Orphanet:99075"} ! aortic arch defects @@ -389040,9 +388877,9 @@ is_a: MONDO:0015236 {source="Orphanet:99075"} ! aortic arch defects id: MONDO:0020414 name: persistent fifth aortic arch subset: ordo_morphological_anomaly {source="Orphanet:99076"} -xref: ICD10CM:Q25.4 {source="ORDO:99076/ntbt", source="Orphanet:99076"} +xref: ICD10CM:Q25.4 {source="Orphanet:99076", source="Orphanet:99076/ntbt"} xref: Orphanet:99076 {source="MONDO:equivalentTo"} -xref: UMLS:C0345066 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99076/e", source="Orphanet:99076"} +xref: UMLS:C0345066 {source="Orphanet:99076/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99076"} is_a: MONDO:0015236 {source="Orphanet:99076"} ! aortic arch defects [Term] @@ -389050,10 +388887,10 @@ id: MONDO:0020415 name: Kommerell diverticulum def: "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." [Orphanet:99077] subset: ordo_morphological_anomaly {source="Orphanet:99077"} -xref: ICD10CM:Q25.4 {source="ORDO:99077/ntbt", source="Orphanet:99077"} +xref: ICD10CM:Q25.4 {source="Orphanet:99077/ntbt", source="Orphanet:99077"} xref: Orphanet:99077 {source="MONDO:equivalentTo"} xref: SCTID:74561007 {source="MONDO:equivalentTo"} -xref: UMLS:C0265885 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99077/e", source="Orphanet:99077"} +xref: UMLS:C0265885 {source="Orphanet:99077/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99077"} is_a: MONDO:0015236 {source="Orphanet:99077"} ! aortic arch defects [Term] @@ -389061,7 +388898,7 @@ id: MONDO:0020416 name: Neuhauser anomaly def: "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." [Orphanet:99078] subset: ordo_morphological_anomaly {source="Orphanet:99078"} -xref: ICD10CM:Q25.4 {source="ORDO:99078/ntbt", source="Orphanet:99078"} +xref: ICD10CM:Q25.4 {source="Orphanet:99078/ntbt", source="Orphanet:99078"} xref: Orphanet:99078 {source="MONDO:equivalentTo"} xref: SCTID:766751007 {source="MONDO:equivalentTo"} is_a: MONDO:0015236 {source="Orphanet:99078"} ! aortic arch defects @@ -389074,12 +388911,12 @@ subset: ordo_morphological_anomaly {source="Orphanet:99081"} synonym: "right aortic arch" EXACT [MONDO:ambiguous] synonym: "right aortic arch (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0012020 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q25.4 {source="Orphanet:99081", source="ORDO:99081/ntbt"} -xref: MedDRA:10067407 {source="ORDO:99081/e", source="Orphanet:99081"} +xref: ICD10CM:Q25.4 {source="Orphanet:99081/ntbt", source="Orphanet:99081"} +xref: MedDRA:10067407 {source="Orphanet:99081", source="Orphanet:99081/e"} xref: NCIT:C103917 {source="MONDO:equivalentTo"} xref: Orphanet:99081 {source="MONDO:equivalentTo"} xref: SCTID:111321007 {source="MONDO:equivalentTo"} -xref: UMLS:C0035615 {source="ORDO:99081/e", source="Orphanet:99081", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0035615 {source="Orphanet:99081", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99081/e"} is_a: MONDO:0015236 {source="Orphanet:99081"} ! aortic arch defects property_value: IAO:0000589 "right aortic arch (disease)" xsd:string @@ -389087,11 +388924,11 @@ property_value: IAO:0000589 "right aortic arch (disease)" xsd:string id: MONDO:0020418 name: dysphagia lusoria subset: ordo_morphological_anomaly {source="Orphanet:99082"} -xref: ICD10CM:Q25.4 {source="Orphanet:99082", source="ORDO:99082/ntbt"} +xref: ICD10CM:Q25.4 {source="Orphanet:99082", source="Orphanet:99082/ntbt"} xref: ICD9:787.29 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99082 {source="MONDO:equivalentTo"} xref: SCTID:231719009 {source="MONDO:equivalentTo"} -xref: UMLS:C0267073 {source="ORDO:99082/e", source="MONDO:equivalentTo", source="Orphanet:99082"} +xref: UMLS:C0267073 {source="MONDO:equivalentTo", source="Orphanet:99082", source="Orphanet:99082/e"} is_a: MONDO:0015236 {source="Orphanet:99082"} ! aortic arch defects [Term] @@ -389101,7 +388938,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99083"} synonym: "pulmonary artery hypoplasia" EXACT [MONDO:ambiguous] synonym: "pulmonary artery hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0004971 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q25.7 {source="ORDO:99083/ntbt", source="Orphanet:99083"} +xref: ICD10CM:Q25.7 {source="Orphanet:99083", source="Orphanet:99083/ntbt"} xref: Orphanet:99083 {source="MONDO:equivalentTo"} xref: SCTID:54682008 {source="MONDO:equivalentTo"} is_a: MONDO:0020287 {source="Orphanet:99083"} ! pulmonary artery or pulmonary branch anomaly @@ -389115,7 +388952,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99084"} synonym: "branch pulmonary artery stenosis" EXACT [Orphanet:99084] synonym: "peripheral pulmonary stenosis" RELATED [Orphanet:99084] synonym: "pulmonary artery stenosis, branch (not PPS)" EXACT [NCIT:C99144] -xref: ICD10CM:Q25.6 {source="ORDO:99084/e", source="Orphanet:99084"} +xref: ICD10CM:Q25.6 {source="Orphanet:99084", source="Orphanet:99084/e"} xref: NCIT:C99144 {source="MONDO:equivalentTo"} xref: Orphanet:99084 {source="MONDO:equivalentTo"} xref: UMLS:C2062889 {source="MONDO:equivalentTo"} @@ -389125,7 +388962,7 @@ is_a: MONDO:0020287 {source="Orphanet:99084"} ! pulmonary artery or pulmonary br id: MONDO:0020421 name: coronary artery intramyocardial course subset: ordo_morphological_anomaly {source="Orphanet:99085"} -xref: ICD10CM:Q24.5 {source="ORDO:99085/ntbt", source="Orphanet:99085"} +xref: ICD10CM:Q24.5 {source="Orphanet:99085", source="Orphanet:99085/ntbt"} xref: Orphanet:99085 {source="MONDO:equivalentTo"} is_a: MONDO:0019826 {source="Orphanet:99085"} ! abnormal origin or aberrant course of coronary artery @@ -389134,7 +388971,7 @@ id: MONDO:0020422 name: aortopulmonary coronary arterial course def: "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." [Orphanet:99086] subset: ordo_morphological_anomaly {source="Orphanet:99086"} -xref: ICD10CM:Q24.5 {source="ORDO:99086/ntbt", source="Orphanet:99086"} +xref: ICD10CM:Q24.5 {source="Orphanet:99086/ntbt", source="Orphanet:99086"} xref: Orphanet:99086 {source="MONDO:equivalentTo"} is_a: MONDO:0019826 {source="Orphanet:99086"} ! abnormal origin or aberrant course of coronary artery @@ -389144,7 +388981,7 @@ name: stenosis or atrophy of the coronary ostium subset: ordo_morphological_anomaly {source="Orphanet:99087"} synonym: "coronary ostial stenosis or atresia" EXACT [Orphanet:99087] synonym: "stenosis or atresia of the coronary ostium" RELATED [Orphanet:99087] -xref: ICD10CM:Q24.5 {source="ORDO:99087/ntbt", source="Orphanet:99087"} +xref: ICD10CM:Q24.5 {source="Orphanet:99087", source="Orphanet:99087/ntbt"} xref: Orphanet:99087 {source="MONDO:equivalentTo"} is_a: MONDO:0019826 {source="Orphanet:99087"} ! abnormal origin or aberrant course of coronary artery @@ -389153,16 +388990,16 @@ id: MONDO:0020424 name: intramural coronary arterial course def: "Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death." [Orphanet:99088] subset: ordo_morphological_anomaly {source="Orphanet:99088"} -xref: ICD10CM:Q24.5 {source="ORDO:99088/ntbt", source="Orphanet:99088"} +xref: ICD10CM:Q24.5 {source="Orphanet:99088/ntbt", source="Orphanet:99088"} xref: Orphanet:99088 {source="MONDO:equivalentTo"} -xref: UMLS:C0345123 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99088/e", source="Orphanet:99088"} +xref: UMLS:C0345123 {source="Orphanet:99088/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99088"} is_a: MONDO:0019826 {source="Orphanet:99088"} ! abnormal origin or aberrant course of coronary artery [Term] id: MONDO:0020425 name: abnormal number of coronary ostia subset: ordo_morphological_anomaly {source="Orphanet:99089"} -xref: ICD10CM:Q24.5 {source="ORDO:99089/ntbt", source="Orphanet:99089"} +xref: ICD10CM:Q24.5 {source="Orphanet:99089/ntbt", source="Orphanet:99089"} xref: Orphanet:99089 {source="MONDO:equivalentTo"} is_a: MONDO:0019826 {source="Orphanet:99089"} ! abnormal origin or aberrant course of coronary artery @@ -389171,7 +389008,7 @@ id: MONDO:0020426 name: malposition of the coronary ostium def: "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." [Orphanet:99090] subset: ordo_morphological_anomaly {source="Orphanet:99090"} -xref: ICD10CM:Q24.5 {source="Orphanet:99090", source="ORDO:99090/ntbt"} +xref: ICD10CM:Q24.5 {source="Orphanet:99090", source="Orphanet:99090/ntbt"} xref: Orphanet:99090 {source="MONDO:equivalentTo"} is_a: MONDO:0019826 {source="Orphanet:99090"} ! abnormal origin or aberrant course of coronary artery @@ -389182,7 +389019,7 @@ def: "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformat subset: ordo_morphological_anomaly {source="Orphanet:99094"} synonym: "ventricular septal defect with aortic insufficiency" EXACT [Orphanet:99094] synonym: "VSD with aortic insufficiency" EXACT [Orphanet:99094] -xref: ICD10CM:Q21.0 {source="ORDO:99094/ntbt", source="Orphanet:99094"} +xref: ICD10CM:Q21.0 {source="Orphanet:99094", source="Orphanet:99094/ntbt"} xref: Orphanet:99094 {source="MONDO:equivalentTo"} xref: SCTID:764955006 {source="MONDO:equivalentTo"} xref: UMLS:CN207292 {source="MONDO:equivalentTo"} @@ -389195,7 +389032,7 @@ name: congenital Gerbode defect subset: ordo_morphological_anomaly {source="Orphanet:99095"} synonym: "Gerbode defect" EXACT [Orphanet:99095] synonym: "left ventricular-to-right atrial communication" EXACT [Orphanet:99095] -xref: ICD10CM:Q21.0 {source="ORDO:99095/ntbt", source="Orphanet:99095"} +xref: ICD10CM:Q21.0 {source="Orphanet:99095", source="Orphanet:99095/ntbt"} xref: Orphanet:99095 {source="MONDO:equivalentTo"} xref: SCTID:204312002 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="Orphanet:99095"} ! congenital heart malformation @@ -389212,7 +389049,7 @@ synonym: "cor triatriatum dextrum" EXACT [Orphanet:99098] synonym: "divided right atrium" EXACT [Orphanet:99098] xref: GARD:0012483 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0011566 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q24.2 {source="ORDO:99098/ntbt", source="Orphanet:99098"} +xref: ICD10CM:Q24.2 {source="Orphanet:99098", source="Orphanet:99098/ntbt"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99098 {source="MONDO:equivalentTo"} xref: SCTID:274947007 {source="MONDO:equivalentTo"} @@ -389228,7 +389065,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99099"} synonym: "cor triatriatum sinistrum" EXACT [Orphanet:99099] synonym: "divided left atrium" EXACT [Orphanet:99099] xref: GARD:0012484 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q24.2 {source="ORDO:99099/ntbt", source="Orphanet:99099"} +xref: ICD10CM:Q24.2 {source="Orphanet:99099/ntbt", source="Orphanet:99099"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99099 {source="MONDO:equivalentTo"} xref: SCTID:253353007 {source="MONDO:equivalentTo"} @@ -389241,7 +389078,7 @@ name: juxtaposition of the atrial appendages def: "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." [Orphanet:99100] subset: ordo_morphological_anomaly {source="Orphanet:99100"} synonym: "juxtaposition of the atrial auricles" EXACT [Orphanet:99100] -xref: ICD10CM:Q20.8 {source="ORDO:99100/ntbt", source="Orphanet:99100"} +xref: ICD10CM:Q20.8 {source="Orphanet:99100/ntbt", source="Orphanet:99100"} xref: Orphanet:99100 {source="MONDO:equivalentTo"} is_a: MONDO:0019837 {source="Orphanet:99100"} ! atrial appendage anomaly @@ -389253,7 +389090,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99101"} synonym: "dilatation of the right atrial appendage" EXACT [Orphanet:99101] synonym: "dilatation of the right atrial auricle" EXACT [Orphanet:99101] synonym: "ectasia of the right atrial auricle" EXACT [Orphanet:99101] -xref: ICD10CM:Q20.8 {source="ORDO:99101/ntbt", source="Orphanet:99101"} +xref: ICD10CM:Q20.8 {source="Orphanet:99101/ntbt", source="Orphanet:99101"} xref: Orphanet:99101 {source="MONDO:equivalentTo"} is_a: MONDO:0019837 {source="Orphanet:99101"} ! atrial appendage anomaly @@ -389267,7 +389104,7 @@ synonym: "dilatation of the left atrial appendage" EXACT [Orphanet:99102] synonym: "dilatation of the left auricle" EXACT [Orphanet:99102] synonym: "ectasia of the left atrial appendage" RELATED [Orphanet:99102] synonym: "ectasia of the left auricle" EXACT [Orphanet:99102] -xref: ICD10CM:Q20.8 {source="ORDO:99102/ntbt", source="Orphanet:99102"} +xref: ICD10CM:Q20.8 {source="Orphanet:99102/ntbt", source="Orphanet:99102"} xref: Orphanet:99102 {source="MONDO:equivalentTo"} is_a: MONDO:0019837 {source="Orphanet:99102"} ! atrial appendage anomaly @@ -389281,11 +389118,11 @@ synonym: "osASD" RELATED [GARD:0005865] synonym: "ostium secundum ASD" RELATED [GARD:0005865] synonym: "ostium secundum atrial septal defect" RELATED [GARD:0005865] xref: GARD:0005865 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q21.1 {source="Orphanet:99103", source="ORDO:99103/inclusion", source="ORDO:99103/ntbt"} -xref: MedDRA:10031302 {source="Orphanet:99103", source="ORDO:99103/e"} -xref: MedDRA:10031303 {source="Orphanet:99103", source="ORDO:99103/e"} +xref: ICD10CM:Q21.1 {source="Orphanet:99103", source="Orphanet:99103/ntbt", source="Orphanet:99103/inclusion"} +xref: MedDRA:10031302 {source="Orphanet:99103", source="Orphanet:99103/e"} +xref: MedDRA:10031303 {source="Orphanet:99103", source="Orphanet:99103/e"} xref: Orphanet:99103 {source="MONDO:equivalentTo"} -xref: UMLS:C0344724 {source="Orphanet:99103", source="MONDO:notFoundInDiseaseSubset", source="ORDO:99103/e"} +xref: UMLS:C0344724 {source="Orphanet:99103", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99103/e"} is_a: MONDO:0006664 {source="Orphanet:99103"} ! atrial septal defect [Term] @@ -389299,7 +389136,7 @@ synonym: "atrial septal defect coronary sinus" EXACT [MONDO:0022512] synonym: "coronary sinus atrial septal defects" RELATED [GARD:0010697] synonym: "unroofed coronary sinus" EXACT [Orphanet:99104] xref: GARD:0010697 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q21.1 {source="Orphanet:99104", source="ORDO:99104/inclusion", source="ORDO:99104/ntbt"} +xref: ICD10CM:Q21.1 {source="Orphanet:99104", source="Orphanet:99104/ntbt", source="Orphanet:99104/inclusion"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99104 {source="MONDO:equivalentTo"} xref: SCTID:40272001 {source="MONDO:equivalentTo"} @@ -389318,11 +389155,11 @@ synonym: "atrial septal defect sinus venosus" RELATED [GARD:0010696] synonym: "sinus venosus ASD" RELATED [GARD:0010696] synonym: "sinus venosus atrial septal defects" RELATED [GARD:0010696] xref: GARD:0010696 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q21.1 {source="Orphanet:99105", source="ORDO:99105/inclusion", source="ORDO:99105/ntbt"} -xref: MESH:C548009 {source="Orphanet:99105", source="MONDO:equivalentTo", source="ORDO:99105/e"} +xref: ICD10CM:Q21.1 {source="Orphanet:99105/ntbt", source="Orphanet:99105", source="Orphanet:99105/inclusion"} +xref: MESH:C548009 {source="Orphanet:99105", source="MONDO:equivalentTo", source="Orphanet:99105/e"} xref: Orphanet:99105 {source="MONDO:equivalentTo"} xref: SCTID:95268002 {source="MONDO:equivalentTo"} -xref: UMLS:C0344730 {source="Orphanet:99105", source="MONDO:notFoundInDiseaseSubset", source="ORDO:99105/e"} +xref: UMLS:C0344730 {source="Orphanet:99105", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99105/e"} is_a: MONDO:0006664 {source="MESH:C548009", source="Orphanet:99105"} ! atrial septal defect [Term] @@ -389344,13 +389181,13 @@ synonym: "PAVC" EXACT ABBREVIATION [PMID:34304616] synonym: "PAVSD" EXACT ABBREVIATION [] synonym: "primum atrial septal defect" EXACT [PMID:34304616] xref: GARD:0010695 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q21.2 {source="Orphanet:99106", source="ORDO:99106/inclusion", source="ORDO:99106/ntbt"} -xref: MESH:C548006 {source="ORDO:99106/e", source="Orphanet:99106", source="MONDO:equivalentObsolete"} +xref: ICD10CM:Q21.2 {source="Orphanet:99106/inclusion", source="Orphanet:99106", source="Orphanet:99106/ntbt"} +xref: MESH:C548006 {source="Orphanet:99106", source="MONDO:equivalentObsolete", source="Orphanet:99106/e"} xref: MESH:D006344 {xref="MONDO:equivalentTo"} xref: Orphanet:99106 {source="MONDO:equivalentTo"} xref: SCTID:17718000 {source="MONDO:equivalentTo"} xref: UMLS:C0031192 {source="MONDO:equivalentTo"} -xref: UMLS:C0741296 {source="ORDO:99106/e", source="Orphanet:99106", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0741296 {source="Orphanet:99106", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99106/e"} is_a: MONDO:0006664 {source="MESH:C548006", source="Orphanet:99106"} ! atrial septal defect property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3879 xsd:string @@ -389358,10 +389195,10 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3879 id: MONDO:0020438 name: atrial septal aneurysm subset: ordo_morphological_anomaly {source="Orphanet:99107"} -xref: ICD10CM:Q21.1 {source="Orphanet:99107", source="ORDO:99107/ntbt"} +xref: ICD10CM:Q21.1 {source="Orphanet:99107/ntbt", source="Orphanet:99107"} xref: Orphanet:99107 {source="MONDO:equivalentTo"} xref: SCTID:95440004 {source="MONDO:equivalentTo"} -xref: UMLS:C0521533 {source="ORDO:99107/e", source="Orphanet:99107", source="MONDO:equivalentTo"} +xref: UMLS:C0521533 {source="Orphanet:99107", source="MONDO:equivalentTo", source="Orphanet:99107/e"} is_a: MONDO:0020294 {source="Orphanet:99107"} ! atrial defect and interatrial communication [Term] @@ -389378,16 +389215,16 @@ synonym: "patent foramen ovale (disease)" EXACT [https://orcid.org/0000-0002-660 synonym: "persistent ostium secundum" EXACT [DOID:13620] xref: DOID:13620 {source="MONDO:equivalentTo"} xref: HP:0001655 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q21.1 {source="Orphanet:99108", source="ORDO:99108/ntbt", source="DOID:13620"} -xref: MedDRA:10016982 {source="ORDO:99108/e", source="Orphanet:99108"} -xref: MESH:D054092 {source="ORDO:99108/e", source="Orphanet:99108", source="MONDO:equivalentTo", source="DOID:13620"} +xref: ICD10CM:Q21.1 {source="Orphanet:99108/ntbt", source="Orphanet:99108", source="DOID:13620"} +xref: MedDRA:10016982 {source="Orphanet:99108", source="Orphanet:99108/e"} +xref: MESH:D054092 {source="Orphanet:99108", source="MONDO:equivalentTo", source="Orphanet:99108/e", source="DOID:13620"} xref: NCIT:C34619 {source="MONDO:equivalentTo", source="DOID:13620"} xref: Orphanet:99108 {source="MONDO:equivalentTo"} xref: SCTID:156912004 {source="DOID:13620"} xref: SCTID:204317008 {source="DOID:13620"} xref: SCTID:268316001 {source="DOID:13620"} xref: SCTID:78902000 {source="DOID:13620"} -xref: UMLS:C0016522 {source="NCIT:C34619", source="ORDO:99108/e", source="Orphanet:99108", source="MONDO:equivalentTo", source="DOID:13620"} +xref: UMLS:C0016522 {source="NCIT:C34619", source="Orphanet:99108", source="MONDO:equivalentTo", source="Orphanet:99108/e", source="DOID:13620"} is_a: MONDO:0005453 {source="DOID:13620/inferred", source="MESH:D054092/inferred", source="MONDO:Redundant", source="NCIT:C34619", source="indirect"} ! congenital heart disease is_a: MONDO:0006664 {source="DOID:13620", source="MESH:D054092"} ! atrial septal defect property_value: IAO:0000589 "patent foramen ovale (disease)" xsd:string @@ -389400,7 +389237,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99109"} synonym: "left superior caval vein persisting to the left-sided atrium" EXACT [Orphanet:99109] synonym: "persistent left superior caval vein connecting to the left-sided atrium" EXACT [Orphanet:99109] synonym: "persistent left SVC connecting to the left-sided atrium" EXACT [Orphanet:99109] -xref: ICD10CM:Q26.1 {source="Orphanet:99109", source="ORDO:99109/ntbt"} +xref: ICD10CM:Q26.1 {source="Orphanet:99109", source="Orphanet:99109/ntbt"} xref: Orphanet:99109 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99109"} ! congenital anomaly of superior vena cava @@ -389411,7 +389248,7 @@ def: "Right superior vena cava connecting to the left-sided atrium is a rare, co subset: ordo_morphological_anomaly {source="Orphanet:99110"} synonym: "right superior caval vein connecting to left-sided atrium" EXACT [Orphanet:99110] synonym: "right SVC connecting to left-sided atrium" EXACT [Orphanet:99110] -xref: ICD10CM:Q26.8 {source="ORDO:99110/ntbt", source="Orphanet:99110"} +xref: ICD10CM:Q26.8 {source="Orphanet:99110/ntbt", source="Orphanet:99110"} xref: Orphanet:99110 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99110"} ! congenital anomaly of superior vena cava @@ -389421,7 +389258,7 @@ name: left superior vena cava persisting to left-sided atrium subset: ordo_morphological_anomaly {source="Orphanet:99111"} synonym: "left superior caval vein persisting to left-sided atrium" EXACT [Orphanet:99111] synonym: "left SVC persisting to left-sided atrium" EXACT [Orphanet:99111] -xref: ICD10CM:Q26.1 {source="ORDO:99111/ntbt", source="Orphanet:99111"} +xref: ICD10CM:Q26.1 {source="Orphanet:99111/ntbt", source="Orphanet:99111"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99111 {source="MONDO:equivalentTo"} xref: SCTID:445436005 {source="MONDO:equivalentTo"} @@ -389433,7 +389270,7 @@ name: absence of innominate vein def: "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." [Orphanet:99112] subset: ordo_morphological_anomaly {source="Orphanet:99112"} synonym: "absence of brachiocephalic vein" EXACT [Orphanet:99112] -xref: ICD10CM:Q26.8 {source="ORDO:99112/ntbt", source="Orphanet:99112"} +xref: ICD10CM:Q26.8 {source="Orphanet:99112/ntbt", source="Orphanet:99112"} xref: Orphanet:99112 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99112"} ! congenital anomaly of superior vena cava @@ -389443,7 +389280,7 @@ name: subaortic course of innominate vein def: "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." [Orphanet:99113] subset: ordo_morphological_anomaly {source="Orphanet:99113"} synonym: "subaortic course of brachiocephalic vein" EXACT [Orphanet:99113] -xref: ICD10CM:Q26.8 {source="ORDO:99113/ntbt", source="Orphanet:99113"} +xref: ICD10CM:Q26.8 {source="Orphanet:99113/ntbt", source="Orphanet:99113"} xref: Orphanet:99113 {source="MONDO:equivalentTo"} xref: SCTID:766756002 {source="MONDO:equivalentTo"} is_a: MONDO:0019829 {source="Orphanet:99113"} ! congenital anomaly of superior vena cava @@ -389458,7 +389295,7 @@ synonym: "absence of the superior vena cava" EXACT [Orphanet:99114] synonym: "absence of the SVC" EXACT [Orphanet:99114] synonym: "agenesis of the superior caval vein" EXACT [Orphanet:99114] synonym: "agenesis of the SVC" EXACT [Orphanet:99114] -xref: ICD10CM:Q26.8 {source="Orphanet:99114", source="ORDO:99114/ntbt"} +xref: ICD10CM:Q26.8 {source="Orphanet:99114", source="Orphanet:99114/ntbt"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99114 {source="MONDO:equivalentTo"} xref: SCTID:204464007 {source="MONDO:equivalentTo"} @@ -389468,7 +389305,7 @@ is_a: MONDO:0019829 {source="Orphanet:99114"} ! congenital anomaly of superior v id: MONDO:0020446 name: coronary sinus stenosis subset: ordo_morphological_anomaly {source="Orphanet:99117"} -xref: ICD10CM:Q21.1 {source="Orphanet:99117", source="ORDO:99117/ntbt"} +xref: ICD10CM:Q21.1 {source="Orphanet:99117", source="Orphanet:99117/ntbt"} xref: Orphanet:99117 {source="MONDO:equivalentTo"} is_a: MONDO:0019831 {source="Orphanet:99117"} ! congenital anomaly of the coronary sinus @@ -389476,7 +389313,7 @@ is_a: MONDO:0019831 {source="Orphanet:99117"} ! congenital anomaly of the corona id: MONDO:0020447 name: coronary sinus atresia subset: ordo_morphological_anomaly {source="Orphanet:99118"} -xref: ICD10CM:Q21.1 {source="Orphanet:99118", source="ORDO:99118/ntbt"} +xref: ICD10CM:Q21.1 {source="Orphanet:99118/ntbt", source="Orphanet:99118"} xref: Orphanet:99118 {source="MONDO:equivalentTo"} is_a: MONDO:0019831 {source="Orphanet:99118"} ! congenital anomaly of the coronary sinus @@ -389486,7 +389323,7 @@ name: right inferior vena cava connecting to left-sided atrium subset: ordo_morphological_anomaly {source="Orphanet:99119"} synonym: "right inferior caval vein connecting to left-sided atrium" EXACT [Orphanet:99119] synonym: "right IVC connecting to left-sided atrium" EXACT [Orphanet:99119] -xref: ICD10CM:Q26.8 {source="Orphanet:99119", source="ORDO:99119/ntbt"} +xref: ICD10CM:Q26.8 {source="Orphanet:99119/ntbt", source="Orphanet:99119"} xref: Orphanet:99119 {source="MONDO:equivalentTo"} is_a: MONDO:0019830 {source="Orphanet:99119"} ! congenital anomaly of the inferior vena cava @@ -389494,7 +389331,7 @@ is_a: MONDO:0019830 {source="Orphanet:99119"} ! congenital anomaly of the inferi id: MONDO:0020449 name: persistent eustachian valve subset: ordo_morphological_anomaly {source="Orphanet:99120"} -xref: ICD10CM:Q26.8 {source="ORDO:99120/ntbt", source="Orphanet:99120"} +xref: ICD10CM:Q26.8 {source="Orphanet:99120", source="Orphanet:99120/ntbt"} xref: Orphanet:99120 {source="MONDO:equivalentTo"} is_a: MONDO:0019830 {source="Orphanet:99120"} ! congenital anomaly of the inferior vena cava @@ -389504,7 +389341,7 @@ name: azygos continuation of the inferior vena cava subset: ordo_morphological_anomaly {source="Orphanet:99121"} synonym: "azygos continuation of the inferior caval vein" EXACT [Orphanet:99121] synonym: "azygos continuation of the IVC" EXACT [Orphanet:99121] -xref: ICD10CM:Q26.8 {source="ORDO:99121/ntbt", source="Orphanet:99121"} +xref: ICD10CM:Q26.8 {source="Orphanet:99121/ntbt", source="Orphanet:99121"} xref: Orphanet:99121 {source="MONDO:equivalentTo"} is_a: MONDO:0019830 {source="Orphanet:99121"} ! congenital anomaly of the inferior vena cava @@ -389514,11 +389351,11 @@ name: congenital stenosis of the inferior vena cava subset: ordo_morphological_anomaly {source="Orphanet:99122"} synonym: "congenital stenosis of the inferior caval vein" EXACT [Orphanet:99122] synonym: "congenital stenosis of the IVC" EXACT [Orphanet:99122] -xref: ICD10CM:Q26.0 {source="ORDO:99122/ntbt", source="Orphanet:99122"} +xref: ICD10CM:Q26.0 {source="Orphanet:99122/ntbt", source="Orphanet:99122"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99122 {source="MONDO:equivalentTo"} xref: SCTID:62335009 {source="MONDO:equivalentTo"} -xref: UMLS:C0265934 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99122/e", source="Orphanet:99122"} +xref: UMLS:C0265934 {source="Orphanet:99122/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99122"} xref: UMLS:C0340757 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99122"} is_a: MONDO:0019830 {source="Orphanet:99122"} ! congenital anomaly of the inferior vena cava @@ -389528,7 +389365,7 @@ name: inferior vena cava interruption subset: ordo_morphological_anomaly {source="Orphanet:99123"} synonym: "Inferior caval vein interruption" EXACT [Orphanet:99123] synonym: "IVC interruption" EXACT [Orphanet:99123] -xref: ICD10CM:Q26.8 {source="ORDO:99123/ntbt", source="Orphanet:99123"} +xref: ICD10CM:Q26.8 {source="Orphanet:99123/ntbt", source="Orphanet:99123"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99123 {source="MONDO:equivalentTo"} xref: SCTID:93031005 {source="MONDO:equivalentTo"} @@ -389541,7 +389378,7 @@ def: "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary subset: ordo_morphological_anomaly {source="Orphanet:99124"} synonym: "Partial anomalous pulmonary Venous connection" EXACT [NCIT:C99004] synonym: "Partial anomalous pulmonary Venous return" EXACT [NCIT:C99004] -xref: ICD10CM:Q26.3 {source="ORDO:99124/e", source="Orphanet:99124"} +xref: ICD10CM:Q26.3 {source="Orphanet:99124/e", source="Orphanet:99124"} xref: NCIT:C99004 {source="MONDO:equivalentTo"} xref: Orphanet:99124 {source="MONDO:equivalentTo"} xref: SCTID:68237008 {source="MONDO:equivalentTo"} @@ -389554,7 +389391,7 @@ id: MONDO:0020454 name: congenital complete agenesis of pericardium def: "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." [Orphanet:99129] subset: ordo_morphological_anomaly {source="Orphanet:99129"} -xref: ICD10CM:Q24.8 {source="Orphanet:99129", source="ORDO:99129/ntbt"} +xref: ICD10CM:Q24.8 {source="Orphanet:99129/ntbt", source="Orphanet:99129"} xref: Orphanet:99129 {source="MONDO:equivalentTo"} is_a: MONDO:0017300 {source="Orphanet:99129"} ! congenital pericardium anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -389565,7 +389402,7 @@ id: MONDO:0020455 name: congenital partial agenesis of pericardium def: "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare." [Orphanet:99130] subset: ordo_morphological_anomaly {source="Orphanet:99130"} -xref: ICD10CM:Q24.8 {source="ORDO:99130/ntbt", source="Orphanet:99130"} +xref: ICD10CM:Q24.8 {source="Orphanet:99130/ntbt", source="Orphanet:99130"} xref: Orphanet:99130 {source="MONDO:equivalentTo"} is_a: MONDO:0017300 {source="Orphanet:99130"} ! congenital pericardium anomaly relationship: has_modifier MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -389576,7 +389413,7 @@ id: MONDO:0020456 name: pleuro-pericardial cyst def: "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." [Orphanet:99131] subset: ordo_morphological_anomaly {source="Orphanet:99131"} -xref: ICD10CM:Q24.8 {source="ORDO:99131/ntbt", source="Orphanet:99131"} +xref: ICD10CM:Q24.8 {source="Orphanet:99131", source="Orphanet:99131/ntbt"} xref: Orphanet:99131 {source="MONDO:equivalentTo"} is_a: MONDO:0017300 {source="Orphanet:99131"} ! congenital pericardium anomaly @@ -389584,7 +389421,7 @@ is_a: MONDO:0017300 {source="Orphanet:99131"} ! congenital pericardium anomaly id: MONDO:0020457 name: 6-phosphogluconate dehydrogenase deficiency subset: ordo_disease {source="Orphanet:99135"} -xref: ICD10CM:D55.1 {source="ORDO:99135/attributed", source="ORDO:99135/ntbt", source="Orphanet:99135"} +xref: ICD10CM:D55.1 {source="Orphanet:99135/attributed", source="Orphanet:99135/ntbt", source="Orphanet:99135"} xref: Orphanet:99135 {source="MONDO:equivalentTo"} is_a: MONDO:0003664 {source="Orphanet:99135"} ! hemolytic anemia @@ -389594,7 +389431,7 @@ name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction def: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." [Orphanet:99138] subset: ordo_disease {source="Orphanet:99138"} synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730] -xref: ICD10CM:D55.3 {source="Orphanet:99138", source="ORDO:99138/attributed", source="ORDO:99138/ntbt"} +xref: ICD10CM:D55.3 {source="Orphanet:99138/attributed", source="Orphanet:99138/ntbt", source="Orphanet:99138"} xref: MESH:C566314 {source="MONDO:equivalentTo"} xref: OMIM:102730 {source="MONDO:equivalentTo"} xref: Orphanet:99138 {source="MONDO:equivalentTo"} @@ -389611,7 +389448,7 @@ subset: ordo_disease {source="Orphanet:99139"} xref: ICD9:282.7 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99139 {source="MONDO:equivalentTo"} xref: SCTID:18273004 {source="MONDO:equivalentTo"} -xref: UMLS:C0272006 {source="ORDO:99139/e", source="Orphanet:99139", source="MONDO:equivalentTo"} +xref: UMLS:C0272006 {source="Orphanet:99139", source="MONDO:equivalentTo", source="Orphanet:99139/e"} is_a: MONDO:0019050 {source="Orphanet:99139", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy [Term] @@ -389628,13 +389465,13 @@ synonym: "Willebrand disease, acquired" RELATED [GARD:0005573] xref: DOID:0111146 {source="MONDO:equivalentTo"} xref: GARD:0005573 {source="MONDO:equivalentTo"} xref: GARD:5573 {source="DOID:0111146"} -xref: ICD10CM:D68.4 {source="Orphanet:99147", source="ORDO:99147/ntbt"} -xref: MedDRA:10069495 {source="Orphanet:99147", source="DOID:0111146", source="ORDO:99147/e"} +xref: ICD10CM:D68.4 {source="Orphanet:99147", source="Orphanet:99147/ntbt"} +xref: MedDRA:10069495 {source="Orphanet:99147", source="Orphanet:99147/e", source="DOID:0111146"} xref: Orphanet:99147 {source="MONDO:equivalentTo", source="DOID:0111146"} xref: PMID:28028990 {source="DOID:0111146"} xref: SCTID:234451005 {source="MONDO:equivalentTo", source="DOID:0111146"} xref: SCTID:60078000 {source="DOID:0111146"} -xref: UMLS:C0272362 {source="Orphanet:99147", source="MONDO:equivalentTo", source="DOID:0111146", source="ORDO:99147/e"} +xref: UMLS:C0272362 {source="Orphanet:99147", source="MONDO:equivalentTo", source="Orphanet:99147/e", source="DOID:0111146"} is_a: MONDO:0001531 {source="DOID:0111146", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0002243 ! hemorrhagic disease intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired) @@ -389646,7 +389483,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5573/acquired id: MONDO:0020461 name: epiblepharon subset: ordo_morphological_anomaly {source="Orphanet:99169"} -xref: ICD10CM:Q10.3 {source="Orphanet:99169", source="ORDO:99169/index", source="ORDO:99169/ntbt"} +xref: ICD10CM:Q10.3 {source="Orphanet:99169", source="Orphanet:99169/index", source="Orphanet:99169/ntbt"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99169 {source="MONDO:equivalentTo"} xref: SCTID:253212001 {source="MONDO:equivalentTo"} @@ -389668,7 +389505,7 @@ name: isolated congenital ectropion def: "A congenital ectropion that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: ordo_morphological_anomaly {source="Orphanet:99171"} synonym: "nonsyndromic congenital ectropion" EXACT [MONDO:patterns/isolated] -xref: ICD10CM:Q10.1 {source="MONDO:subClassOf", source="ORDO:99171/specific", source="ORDO:99171/e", source="Orphanet:99171"} +xref: ICD10CM:Q10.1 {source="MONDO:subClassOf", source="Orphanet:99171", source="Orphanet:99171/specific", source="Orphanet:99171/e"} xref: Orphanet:99171 {source="MONDO:equivalentTo"} is_a: MONDO:0020161 {source="MONDO:Redundant", source="Orphanet:99171"} ! congenital ectropion intersection_of: MONDO:0020161 ! congenital ectropion @@ -389679,7 +389516,7 @@ id: MONDO:0020464 name: euryblepharon def: "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." [Orphanet:99172] subset: ordo_morphological_anomaly {source="Orphanet:99172"} -xref: ICD10CM:Q10.1 {source="MONDO:subClassOf", source="ORDO:99172/attributed", source="ORDO:99172/ntbt", source="Orphanet:99172"} +xref: ICD10CM:Q10.1 {source="MONDO:subClassOf", source="Orphanet:99172", source="Orphanet:99172/attributed", source="Orphanet:99172/ntbt"} xref: Orphanet:99172 {source="MONDO:equivalentTo"} xref: SCTID:400954002 {source="MONDO:equivalentTo"} xref: UMLS:CN207327 {source="MONDO:equivalentTo"} @@ -389691,7 +389528,7 @@ name: congenital eyelid retraction def: "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." [Orphanet:99176] comment: Editor note: check ORDO classification subset: ordo_morphological_anomaly {source="Orphanet:99176"} -xref: ICD10CM:Q10.3 {source="ORDO:99176/attributed", source="ORDO:99176/ntbt", source="Orphanet:99176"} +xref: ICD10CM:Q10.3 {source="Orphanet:99176/attributed", source="Orphanet:99176/ntbt", source="Orphanet:99176"} xref: Orphanet:99176 {source="MONDO:equivalentTo"} xref: SCTID:715769008 {source="MONDO:equivalentTo"} is_a: MONDO:0003382 {source="Orphanet:99176"} ! eyelid disorder @@ -389701,7 +389538,7 @@ id: MONDO:0020466 name: monosomy X subset: ordo_etiological_subtype {source="Orphanet:99226"} synonym: "monosomy type X" EXACT [MONDORULE:1, Orphanet:99226] -xref: ICD10CM:Q96.9 {source="Orphanet:99226", source="ORDO:99226/index", source="ORDO:99226/ntbt"} +xref: ICD10CM:Q96.9 {source="Orphanet:99226/ntbt", source="Orphanet:99226", source="Orphanet:99226/index"} xref: NCIT:C36630 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: Orphanet:99226 {source="MONDO:equivalentTo"} xref: SCTID:710008008 {source="MONDO:equivalentTo"} @@ -389721,8 +389558,8 @@ subset: ordo_etiological_subtype {source="Orphanet:99228"} synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1, Orphanet:99228] synonym: "Mosaic Turner syndrome" EXACT [PMID:12516330, PMID:29159084] synonym: "XX/XO" EXACT [PMID:12516330, PMID:29159084] -xref: ICD10CM:Q96.3 {source="ORDO:99228/specific", source="Orphanet:99228", source="ORDO:99228/btnt"} -xref: ICD10CM:Q96.4 {source="ORDO:99228/specific", source="Orphanet:99228", source="ORDO:99228/btnt"} +xref: ICD10CM:Q96.3 {source="Orphanet:99228/btnt", source="Orphanet:99228", source="Orphanet:99228/specific"} +xref: ICD10CM:Q96.4 {source="Orphanet:99228/btnt", source="Orphanet:99228", source="Orphanet:99228/specific"} xref: Orphanet:99228 {source="MONDO:equivalentTo"} xref: SCTID:710010005 {source="MONDO:equivalentTo"} xref: UMLS:C4040907 {source="MONDO:equivalentTo"} @@ -389742,7 +389579,7 @@ def: "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of p subset: ordo_malformation_syndrome {source="Orphanet:99324"} synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:99324] synonym: "UPD(13)pat" EXACT [Orphanet:99324] -xref: ICD10CM:Q99.8 {source="Orphanet:99324", source="ORDO:99324/attributed", source="ORDO:99324/ntbt"} +xref: ICD10CM:Q99.8 {source="Orphanet:99324", source="Orphanet:99324/attributed", source="Orphanet:99324/ntbt"} xref: Orphanet:99324 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr13 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 13 (Human) @@ -389754,7 +389591,7 @@ def: "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only m subset: ordo_malformation_syndrome {source="Orphanet:99329"} synonym: "48,XYYY" RELATED [GARD:0011985] xref: GARD:0011985 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q98.8 {source="Orphanet:99329", source="ORDO:99329/attributed", source="ORDO:99329/ntbt"} +xref: ICD10CM:Q98.8 {source="Orphanet:99329", source="Orphanet:99329/attributed", source="Orphanet:99329/ntbt"} xref: Orphanet:99329 {source="MONDO:equivalentTo"} xref: SCTID:733625003 {source="MONDO:equivalentTo"} xref: UMLS:C4518082 {source="MONDO:equivalentTo"} @@ -389771,7 +389608,7 @@ id: MONDO:0020470 name: 49,XYYYY syndrome def: "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." [Orphanet:99330] subset: ordo_malformation_syndrome {source="Orphanet:99330"} -xref: ICD10CM:Q98.8 {source="ORDO:99330/attributed", source="ORDO:99330/ntbt", source="Orphanet:99330"} +xref: ICD10CM:Q98.8 {source="Orphanet:99330/attributed", source="Orphanet:99330/ntbt", source="Orphanet:99330"} xref: Orphanet:99330 {source="MONDO:equivalentTo"} xref: SCTID:734028007 {source="MONDO:equivalentTo"} xref: UMLS:C4518342 {source="MONDO:equivalentTo"} @@ -389793,8 +389630,8 @@ replaced_by: MONDO:0006373 id: MONDO:0020472 name: Turner syndrome due to structural X chromosome anomalies subset: ordo_etiological_subtype {source="Orphanet:99413"} -xref: ICD10CM:Q96.1 {source="Orphanet:99413", source="ORDO:99413/specific", source="ORDO:99413/btnt"} -xref: ICD10CM:Q96.2 {source="Orphanet:99413", source="ORDO:99413/specific", source="ORDO:99413/btnt"} +xref: ICD10CM:Q96.1 {source="Orphanet:99413/btnt", source="Orphanet:99413", source="Orphanet:99413/specific"} +xref: ICD10CM:Q96.2 {source="Orphanet:99413/btnt", source="Orphanet:99413", source="Orphanet:99413/specific"} xref: Orphanet:99413 {source="MONDO:equivalentTo"} xref: UMLS:CN207336 {source="MONDO:equivalentTo"} is_a: MONDO:0019499 {source="Orphanet:99413"} ! Turner syndrome @@ -389803,11 +389640,11 @@ is_a: MONDO:0019499 {source="Orphanet:99413"} ! Turner syndrome id: MONDO:0020473 name: dappled diaphyseal dysplasia subset: ordo_disease {source="Orphanet:99645"} -xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:99645", source="ORDO:99645/attributed", source="ORDO:99645/ntbt"} +xref: ICD10CM:Q77.3 {source="MONDO:subClassOf", source="Orphanet:99645", source="Orphanet:99645/attributed", source="Orphanet:99645/ntbt"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99645 {source="MONDO:equivalentTo"} xref: SCTID:389262009 {source="MONDO:equivalentTo"} -xref: UMLS:C1300227 {source="ORDO:99645/e", source="Orphanet:99645", source="MONDO:equivalentTo"} +xref: UMLS:C1300227 {source="Orphanet:99645", source="MONDO:equivalentTo", source="Orphanet:99645/e"} is_a: MONDO:0019701 {source="Orphanet:99645"} ! chondrodysplasia punctata [Term] @@ -389855,9 +389692,9 @@ def: "Leber `plus' disease describes patients with the clinical features of Lebe subset: ordo_disease {source="Orphanet:99718"} synonym: "LHON plus disease" EXACT [Orphanet:99718] xref: DOID:0111754 {source="MONDO:equivalentTo"} -xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="ORDO:99718/attributed", source="ORDO:99718/ntbt", source="Orphanet:99718"} -xref: OMIM:165200 {source="ORDO:99718/btnt", source="MONDO:superClassOf", source="Orphanet:99718"} -xref: OMIM:500001 {source="ORDO:99718/btnt", source="MONDO:superClassOf", source="Orphanet:99718"} +xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="Orphanet:99718/attributed", source="Orphanet:99718/ntbt", source="Orphanet:99718"} +xref: OMIM:165200 {source="MONDO:superClassOf", source="Orphanet:99718/btnt", source="Orphanet:99718"} +xref: OMIM:500001 {source="MONDO:superClassOf", source="Orphanet:99718/btnt", source="Orphanet:99718"} xref: Orphanet:99718 {source="MONDO:equivalentTo"} xref: SCTID:719430008 {source="MONDO:equivalentTo"} xref: UMLS:C4304725 {source="MONDO:equivalentTo"} @@ -389877,14 +389714,14 @@ synonym: "gigantism" RELATED [GARD:0006506] synonym: "hypophyseal gigantism" EXACT [Orphanet:99725] synonym: "infantile and juvenile forms of acromegaly" EXACT [Orphanet:99725] xref: GARD:0006506 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:E22.0 {source="ORDO:99725/e", source="Orphanet:99725"} -xref: MedDRA:10018265 {source="ORDO:99725/e", source="Orphanet:99725"} -xref: MESH:D005877 {source="ORDO:99725/e", source="MONDO:equivalentTo", source="Orphanet:99725"} +xref: ICD10CM:E22.0 {source="Orphanet:99725", source="Orphanet:99725/e"} +xref: MedDRA:10018265 {source="Orphanet:99725", source="Orphanet:99725/e"} +xref: MESH:D005877 {source="MONDO:equivalentTo", source="Orphanet:99725", source="Orphanet:99725/e"} xref: NCIT:C93046 {source="MONDO:equivalentTo"} -xref: OMIM:102200 {source="MONDO:relatedTo", source="Orphanet:99725", source="ORDO:99725/ntbt"} +xref: OMIM:102200 {source="MONDO:relatedTo", source="Orphanet:99725", source="Orphanet:99725/ntbt"} xref: Orphanet:99725 {source="MONDO:equivalentTo"} xref: SCTID:86073008 {source="MONDO:equivalentTo"} -xref: UMLS:C0017547 {source="ORDO:99725/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99725"} +xref: UMLS:C0017547 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99725", source="Orphanet:99725/e"} is_a: MONDO:0006793 {source="MESH:D005877", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! hyperpituitarism is_a: MONDO:0019927 {source="Orphanet:99725"} ! growth hormone-producing pituitary gland neoplasm @@ -389899,10 +389736,10 @@ synonym: "MOCOD" EXACT ABBREVIATION [DOID:0111165, Orphanet:99732] synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150] xref: DOID:0111165 {source="MONDO:equivalentTo"} xref: GARD:0003705 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:E72.1 {source="Orphanet:99732", source="DOID:0111165", source="ORDO:99732/attributed", source="ORDO:99732/ntbt"} -xref: OMIM:252150 {source="Orphanet:99732", source="MONDO:superClassOf", source="ORDO:99732/btnt"} -xref: OMIM:252160 {source="Orphanet:99732", source="MONDO:superClassOf", source="ORDO:99732/btnt"} -xref: OMIM:615501 {source="Orphanet:99732", source="MONDO:superClassOf", source="ORDO:99732/btnt"} +xref: ICD10CM:E72.1 {source="Orphanet:99732/attributed", source="Orphanet:99732/ntbt", source="Orphanet:99732", source="DOID:0111165"} +xref: OMIM:252150 {source="Orphanet:99732/btnt", source="Orphanet:99732", source="MONDO:superClassOf"} +xref: OMIM:252160 {source="Orphanet:99732/btnt", source="Orphanet:99732", source="MONDO:superClassOf"} +xref: OMIM:615501 {source="Orphanet:99732/btnt", source="Orphanet:99732", source="MONDO:superClassOf"} xref: OMIMPS:252150 {source="MONDO:equivalentTo", source="DOID:0111165"} xref: Orphanet:99732 {source="MONDO:equivalentTo", source="DOID:0111165"} is_a: MONDO:0004689 {source="DOID:0111165"} ! inborn metal metabolism disorder @@ -389919,12 +389756,12 @@ subset: ordo_disease {source="Orphanet:99734"} synonym: "exercise-induced delayed-onset myotonia" EXACT [Orphanet:99734] synonym: "Fluctuating myotonia" EXACT [Orphanet:99734] synonym: "MF" EXACT ABBREVIATION [NCIT:C122789] -xref: ICD10CM:G71.1 {source="Orphanet:99734", source="ORDO:99734/attributed", source="ORDO:99734/ntbt"} +xref: ICD10CM:G71.1 {source="Orphanet:99734/attributed", source="Orphanet:99734/ntbt", source="Orphanet:99734"} xref: NCIT:C122789 {source="MONDO:equivalentTo"} -xref: OMIM:608390 {source="MONDO:subClassOf", source="Orphanet:99734", source="ORDO:99734/ntbt"} +xref: OMIM:608390 {source="MONDO:subClassOf", source="Orphanet:99734/ntbt", source="Orphanet:99734"} xref: Orphanet:99734 {source="MONDO:equivalentTo"} xref: SCTID:715788001 {source="MONDO:equivalentTo"} -xref: UMLS:C0752355 {source="ORDO:99734/e", source="Orphanet:99734", source="MONDO:equivalentTo", source="NCIT:C122789"} +xref: UMLS:C0752355 {source="Orphanet:99734", source="MONDO:equivalentTo", source="Orphanet:99734/e", source="NCIT:C122789"} is_a: MONDO:0018959 {source="MONDO:Redundant", source="NCIT:C122789", source="Orphanet:99734", source="indirect"} ! potassium-aggravated myotonia property_value: confidence "0.47058823529411753" xsd:double @@ -389933,8 +389770,8 @@ id: MONDO:0020482 name: myotonia permanens def: "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." [Orphanet:99735] subset: ordo_disease {source="Orphanet:99735"} -xref: ICD10CM:G71.1 {source="Orphanet:99735", source="ORDO:99735/attributed", source="ORDO:99735/ntbt"} -xref: OMIM:608390 {source="MONDO:subClassOf", source="Orphanet:99735", source="ORDO:99735/ntbt"} +xref: ICD10CM:G71.1 {source="Orphanet:99735/attributed", source="Orphanet:99735/ntbt", source="Orphanet:99735"} +xref: OMIM:608390 {source="MONDO:subClassOf", source="Orphanet:99735/ntbt", source="Orphanet:99735"} xref: Orphanet:99735 {source="MONDO:equivalentTo"} xref: SCTID:715789009 {source="MONDO:equivalentTo"} xref: UMLS:CN207354 {source="MONDO:equivalentTo"} @@ -389952,8 +389789,8 @@ synonym: "ACZ-responsive myotonia" EXACT [Orphanet:99736] synonym: "myotonia-painful contractions syndrome" EXACT [Orphanet:99736] synonym: "painful congenital myotonia" EXACT [Orphanet:99736] synonym: "painful myotonia" EXACT [Orphanet:99736] -xref: ICD10CM:G71.1 {source="Orphanet:99736", source="ORDO:99736/attributed", source="ORDO:99736/ntbt"} -xref: OMIM:608390 {source="MONDO:subClassOf", source="Orphanet:99736", source="ORDO:99736/ntbt", source="MONDO:directSiblingOf"} +xref: ICD10CM:G71.1 {source="Orphanet:99736", source="Orphanet:99736/attributed", source="Orphanet:99736/ntbt"} +xref: OMIM:608390 {source="MONDO:subClassOf", source="Orphanet:99736", source="MONDO:directSiblingOf", source="Orphanet:99736/ntbt"} xref: Orphanet:99736 {source="MONDO:equivalentTo"} xref: SCTID:715793003 {source="MONDO:equivalentTo"} is_a: MONDO:0018959 {source="MONDO:Redundant", source="Orphanet:99736"} ! potassium-aggravated myotonia @@ -389974,8 +389811,8 @@ property_value: IAO:0000231 MONDO:outOfScope xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 xsd:anyURI property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2662 xsd:anyURI is_obsolete: true -consider: MESH:D024741 {source="ORDO:99739/e", source="Orphanet:99739"} -consider: UMLS:C0949658 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99739/e", source="Orphanet:99739"} +consider: MESH:D024741 {source="Orphanet:99739", source="Orphanet:99739/e"} +consider: UMLS:C0949658 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99739", source="Orphanet:99739/e"} [Term] id: MONDO:0020485 @@ -389990,13 +389827,13 @@ synonym: "Kousseff Nichols syndrome" RELATED [GARD:0008561] synonym: "Noonan like contracture myopathy hyperpyrexia" RELATED [GARD:0008561, MESH:C537504] xref: GARD:0008433 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0008561 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.2 {source="Orphanet:99741", source="ORDO:99741/attributed", source="ORDO:99741/ntbt"} -xref: MESH:C536883 {source="Orphanet:99741", source="MONDO:equivalentTo", source="ORDO:99741/e"} +xref: ICD10CM:G71.2 {source="Orphanet:99741", source="Orphanet:99741/attributed", source="Orphanet:99741/ntbt"} +xref: MESH:C536883 {source="Orphanet:99741", source="MONDO:equivalentTo", source="Orphanet:99741/e"} xref: MESH:C537504 {source="MONDO:equivalentTo"} -xref: OMIM:145600 {source="MONDO:subClassOf", source="Orphanet:99741", source="MONDO:relatedTo", source="ORDO:99741/ntbt"} +xref: OMIM:145600 {source="MONDO:subClassOf", source="Orphanet:99741", source="MONDO:relatedTo", source="Orphanet:99741/ntbt"} xref: Orphanet:99741 {source="MONDO:equivalentTo"} xref: SCTID:764957003 {source="MONDO:equivalentTo"} -xref: UMLS:C1840365 {source="Orphanet:99741", source="MONDO:notFoundInDiseaseSubset", source="ORDO:99741/e"} +xref: UMLS:C1840365 {source="Orphanet:99741", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99741/e"} xref: UMLS:C2931510 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0008561"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder is_a: MONDO:0015160 {source="Orphanet:99741", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -390012,13 +389849,13 @@ name: Pontiac fever def: "Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." [Orphanet:99748] subset: ordo_clinical_subtype {source="Orphanet:99748"} xref: DOID:0050150 {source="MONDO:equivalentTo"} -xref: ICD10CM:A48.2 {source="ORDO:99748/e", source="Orphanet:99748"} +xref: ICD10CM:A48.2 {source="Orphanet:99748", source="Orphanet:99748/e"} xref: ICD9:041.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10054161 {source="ORDO:99748/e", source="Orphanet:99748"} +xref: MedDRA:10054161 {source="Orphanet:99748", source="Orphanet:99748/e"} xref: NCIT:C128335 {source="MONDO:equivalentTo"} xref: Orphanet:99748 {source="MONDO:equivalentTo"} xref: SCTID:240447002 {source="MONDO:equivalentTo"} -xref: UMLS:C0343528 {source="ORDO:99748/e", source="MONDO:equivalentTo", source="Orphanet:99748", source="NCIT:C128335"} +xref: UMLS:C0343528 {source="MONDO:equivalentTo", source="Orphanet:99748", source="NCIT:C128335", source="Orphanet:99748/e"} is_a: MONDO:0005113 {source="DOID:0050150/inferred", source="MONDO:Redundant", source="NCIT:C128335", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0005823 {source="DOID:0050150", source="Orphanet:99748", source="linkedlifedata", source="linkedlifedata/inferred"} ! legionellosis @@ -390028,11 +389865,11 @@ name: atypical progressive supranuclear palsy syndrome def: "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)." [Orphanet:99750] subset: ordo_clinical_subtype {source="Orphanet:99750"} synonym: "atypical PSP syndrome" EXACT [Orphanet:99750] -xref: ICD10CM:G23.1 {source="ORDO:99750/attributed", source="ORDO:99750/ntbt", source="Orphanet:99750"} -xref: MESH:C537240 {source="MONDO:superClassOf", source="ORDO:99750/e", source="Orphanet:99750"} -xref: OMIM:260540 {source="ORDO:99750/btnt", source="MONDO:superClassOf", source="Orphanet:99750"} +xref: ICD10CM:G23.1 {source="Orphanet:99750/attributed", source="Orphanet:99750/ntbt", source="Orphanet:99750"} +xref: MESH:C537240 {source="Orphanet:99750/e", source="MONDO:superClassOf", source="Orphanet:99750"} +xref: OMIM:260540 {source="Orphanet:99750/btnt", source="MONDO:superClassOf", source="Orphanet:99750"} xref: Orphanet:99750 {source="MONDO:equivalentTo"} -xref: UMLS:C1850077 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99750/e", source="Orphanet:99750"} +xref: UMLS:C1850077 {source="Orphanet:99750/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99750"} is_a: MONDO:0019037 {source="Orphanet:99750"} ! progressive supranuclear palsy [Term] @@ -390047,9 +389884,9 @@ synonym: "CMO II" EXACT [Orphanet:99763] synonym: "corticosterone methyloxidase deficiency type I" EXACT [Orphanet:99763] synonym: "FHHA1" EXACT ABBREVIATION [Orphanet:99763] xref: DOID:0080626 {source="MONDO:superClassOf"} -xref: ICD10CM:E27.4 {source="Orphanet:99763", source="ORDO:99763/attributed", source="ORDO:99763/ntbt"} -xref: OMIM:203400 {source="Orphanet:99763", source="MONDO:superClassOf", source="ORDO:99763/btnt"} -xref: OMIM:610600 {source="Orphanet:99763", source="MONDO:superClassOf", source="ORDO:99763/btnt"} +xref: ICD10CM:E27.4 {source="Orphanet:99763", source="Orphanet:99763/attributed", source="Orphanet:99763/ntbt"} +xref: OMIM:203400 {source="Orphanet:99763", source="Orphanet:99763/btnt", source="MONDO:superClassOf"} +xref: OMIM:610600 {source="Orphanet:99763", source="Orphanet:99763/btnt", source="MONDO:superClassOf"} xref: Orphanet:99763 {source="MONDO:equivalentTo"} xref: UMLS:C0268293 {source="Orphanet:99763", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4289986 {source="MONDO:equivalentTo"} @@ -390065,11 +389902,11 @@ synonym: "Mosaic trisomy chromosome 9" RELATED [GARD:0000043] synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1, Orphanet:99776] synonym: "trisomy 9 mosaicism" RELATED [GARD:0000043] xref: GARD:0000043 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q92.1 {source="Orphanet:99776", source="ORDO:99776/attributed", source="ORDO:99776/ntbt"} -xref: MESH:C535454 {source="Orphanet:99776", source="MONDO:equivalentTo", source="ORDO:99776/e"} +xref: ICD10CM:Q92.1 {source="Orphanet:99776/attributed", source="Orphanet:99776/ntbt", source="Orphanet:99776"} +xref: MESH:C535454 {source="Orphanet:99776", source="MONDO:equivalentTo", source="Orphanet:99776/e"} xref: Orphanet:99776 {source="MONDO:equivalentTo"} xref: SCTID:764989007 {source="MONDO:equivalentTo"} -xref: UMLS:C2930908 {source="Orphanet:99776", source="MONDO:notFoundInDiseaseSubset", source="ORDO:99776/e"} +xref: UMLS:C2930908 {source="Orphanet:99776", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99776/e"} xref: UMLS:CN035918 {source="MONDO:equivalentTo"} is_a: MONDO:0020051 {source="Orphanet:99776"} ! total autosomal trisomy intersection_of: MONDO:0700065 ! trisomy @@ -390095,13 +389932,13 @@ synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796] xref: DOID:0111169 {source="MONDO:equivalentTo"} xref: GARD:0001904 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: GARD:0002250 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.3 {source="Orphanet:99796", source="ORDO:99796/attributed", source="ORDO:99796/ntbt"} +xref: ICD10CM:Q04.3 {source="Orphanet:99796", source="Orphanet:99796/attributed", source="Orphanet:99796/ntbt"} xref: NCIT:C116933 {source="MONDO:equivalentTo", source="DOID:0111169"} -xref: OMIM:300067 {source="MONDO:subClassOf", source="Orphanet:99796", source="MONDO:superClassOf", source="ORDO:99796/ntbt"} -xref: OMIM:600348 {source="Orphanet:99796", source="MONDO:superClassOf", source="DOID:0111169", source="ORDO:99796/btnt"} -xref: OMIM:607432 {source="MONDO:subClassOf", source="Orphanet:99796", source="MONDO:relatedTo", source="ORDO:99796/ntbt"} +xref: OMIM:300067 {source="MONDO:subClassOf", source="Orphanet:99796", source="Orphanet:99796/ntbt", source="MONDO:superClassOf"} +xref: OMIM:600348 {source="Orphanet:99796", source="Orphanet:99796/btnt", source="MONDO:superClassOf", source="DOID:0111169"} +xref: OMIM:607432 {source="MONDO:subClassOf", source="Orphanet:99796", source="MONDO:relatedTo", source="Orphanet:99796/ntbt"} xref: Orphanet:99796 {source="MONDO:equivalentTo", source="DOID:0111169"} -xref: UMLS:C1848201 {source="Orphanet:99796", source="MONDO:equivalentTo", source="NCIT:C116933", source="ORDO:99796/e", source="DOID:0111169"} +xref: UMLS:C1848201 {source="Orphanet:99796", source="MONDO:equivalentTo", source="Orphanet:99796/e", source="NCIT:C116933", source="DOID:0111169"} xref: UMLS:C4284594 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="NCIT:C116933"} ! syndromic disease is_a: MONDO:0002320 {source="DOID:0111169", source="indirect"} ! congenital nervous system disorder @@ -390117,12 +389954,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:99802"} synonym: "macrencephaly" RELATED [GARD:0002637] synonym: "unilateral megalencephaly" EXACT [Orphanet:99802] xref: GARD:0002637 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.5 {source="Orphanet:99802", source="ORDO:99802/attributed", source="ORDO:99802/ntbt"} +xref: ICD10CM:Q04.5 {source="Orphanet:99802", source="Orphanet:99802/attributed", source="Orphanet:99802/ntbt"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="i2s"} xref: MESH:D065705 {source="MONDO:equivalentTo"} xref: Orphanet:99802 {source="MONDO:equivalentTo"} xref: SCTID:253170008 {source="MONDO:equivalentTo"} -xref: UMLS:C0431391 {source="ORDO:99802/e", source="MONDO:equivalentTo", source="Orphanet:99802"} +xref: UMLS:C0431391 {source="MONDO:equivalentTo", source="Orphanet:99802", source="Orphanet:99802/e"} is_a: MONDO:0016054 {source="Orphanet:99802"} ! cerebral malformation is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly xsd:anyURI {source="GARD:0002637"} @@ -390136,13 +389973,13 @@ synonym: "congenital central alveolar hypoventilation-Hirschsprung disease syndr synonym: "Haddad syndrome" EXACT CLINGEN_PREFERRED [] synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803] synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803] -xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="ORDO:99803/attributed", source="ORDO:99803/ntbt", source="Orphanet:99803"} -xref: MESH:C536209 {source="ORDO:99803/e", source="Orphanet:99803"} -xref: OMIM:209880 {source="MONDO:subClassOf", source="ORDO:99803/ntbt", source="Orphanet:99803"} +xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="Orphanet:99803", source="Orphanet:99803/attributed", source="Orphanet:99803/ntbt"} +xref: MESH:C536209 {source="Orphanet:99803", source="Orphanet:99803/e"} +xref: OMIM:209880 {source="MONDO:subClassOf", source="Orphanet:99803", source="Orphanet:99803/ntbt"} xref: Orphanet:99803 {source="MONDO:equivalentTo"} xref: SCTID:719972004 {source="MONDO:equivalentTo"} xref: UMLS:C1859049 {source="Orphanet:99803", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1859587 {source="ORDO:99803/e", source="Orphanet:99803", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1859587 {source="Orphanet:99803", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99803/e"} is_a: MONDO:0008852 ! congenital central hypoventilation syndrome is_a: MONDO:0021189 {source="Orphanet:99803"} ! intestinal motility disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015184"} ! rare @@ -390154,8 +389991,8 @@ name: oculootodental syndrome def: "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." [Orphanet:99806] subset: ordo_malformation_syndrome {source="Orphanet:99806"} synonym: "OOD" EXACT ABBREVIATION [Orphanet:99806] -xref: ICD10CM:K00.2 {source="ORDO:99806/attributed", source="ORDO:99806/ntbt", source="Orphanet:99806"} -xref: OMIM:166750 {source="MONDO:subClassOf", source="ORDO:99806/ntbt", source="Orphanet:99806"} +xref: ICD10CM:K00.2 {source="Orphanet:99806/attributed", source="Orphanet:99806/ntbt", source="Orphanet:99806"} +xref: OMIM:166750 {source="MONDO:subClassOf", source="Orphanet:99806/ntbt", source="Orphanet:99806"} xref: Orphanet:99806 {source="MONDO:equivalentTo"} xref: UMLS:C2750325 {source="MONDO:equivalentTo", source="Orphanet:99806"} is_a: MONDO:0016910 {source="Orphanet:99806"} ! partial deletion of the long arm of chromosome 11 @@ -390170,7 +390007,7 @@ synonym: "PEHO syndrome-like" EXACT [OMIM:617507, OMIM:genemap2] synonym: "peho-like syndrome" EXACT [OMIM:617507] synonym: "PEHOL" RELATED ABBREVIATION [OMIM:617507] synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" EXACT [OMIM:617507] -xref: OMIM:260565 {source="MONDO:subClassOf", source="ORDO:99807/ntbt", source="Orphanet:99807"} +xref: OMIM:260565 {source="MONDO:subClassOf", source="Orphanet:99807", source="Orphanet:99807/ntbt"} xref: OMIM:617507 {source="MONDO:equivalentTo"} xref: Orphanet:99807 {source="MONDO:equivalentTo", source="OMIM:617507"} xref: UMLS:C1850056 {source="OMIM:617507", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99807"} @@ -390189,13 +390026,13 @@ subset: ordo_etiological_subtype {source="Orphanet:99810"} synonym: "familial porencephalic white matter disease" RELATED [GARD:0002258] synonym: "hereditary porencephaly" EXACT [MONDO:patterns/hereditary] xref: GARD:0002258 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q04.6 {source="Orphanet:99810", source="ORDO:99810/inclusion", source="ORDO:99810/ntbt"} -xref: MESH:C536850 {source="ORDO:99810/e", source="Orphanet:99810"} -xref: OMIM:175780 {source="DOID:0060263", source="Orphanet:99810", source="ORDO:2940/btnt", source="MONDO:superClassOf", source="ORDO:99810/btnt", source="ORDO:2940"} -xref: OMIM:614483 {source="DOID:0060263", source="Orphanet:99810", source="ORDO:2940/btnt", source="MONDO:superClassOf", source="ORDO:99810/btnt", source="ORDO:2940"} +xref: ICD10CM:Q04.6 {source="Orphanet:99810/inclusion", source="Orphanet:99810", source="Orphanet:99810/ntbt"} +xref: MESH:C536850 {source="Orphanet:99810", source="Orphanet:99810/e"} +xref: OMIM:175780 {source="DOID:0060263", source="Orphanet:2940/btnt", source="Orphanet:99810", source="Orphanet:99810/btnt", source="Orphanet:2940", source="MONDO:superClassOf"} +xref: OMIM:614483 {source="DOID:0060263", source="Orphanet:2940/btnt", source="Orphanet:99810", source="Orphanet:99810/btnt", source="Orphanet:2940", source="MONDO:superClassOf"} xref: OMIMPS:175780 {source="MONDO:equivalentTo"} xref: Orphanet:99810 {source="MONDO:equivalentTo"} -xref: UMLS:C1867983 {source="ORDO:99810/e", source="Orphanet:99810", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1867983 {source="Orphanet:99810", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99810/e"} is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:99810"} ! porencephaly is_a: MONDO:0018788 ! COL4A1 or COL4A2-related cerebral small vessel disease intersection_of: MONDO:0017410 ! porencephaly @@ -390208,8 +390045,8 @@ id: MONDO:0020497 name: Turcot syndrome with polyposis def: "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." [Orphanet:99818] subset: ordo_clinical_subtype {source="Orphanet:99818"} -xref: ICD10CM:D12.6 {source="ORDO:99818/attributed", source="ORDO:99818/ntbt", source="Orphanet:99818"} -xref: OMIM:175100 {source="MONDO:subClassOf", source="ORDO:99818/ntbt", source="Orphanet:99818", source="MONDO:directSiblingOf"} +xref: ICD10CM:D12.6 {source="Orphanet:99818", source="Orphanet:99818/attributed", source="Orphanet:99818/ntbt"} +xref: OMIM:175100 {source="MONDO:subClassOf", source="Orphanet:99818", source="Orphanet:99818/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:99818 {source="MONDO:equivalentTo"} xref: UMLS:CN207386 {source="MONDO:equivalentTo"} is_a: MONDO:0016756 {source="Orphanet:99818"} ! inherited nervous system cancer-predisposing syndrome @@ -390231,7 +390068,7 @@ synonym: "Nipah encephalitis" EXACT [Orphanet:99825] synonym: "Nipah fever" EXACT [Orphanet:99825] synonym: "Nipah virus infectious disease" EXACT [] xref: DOID:0050192 {source="MONDO:equivalentObsolete"} -xref: ICD10CM:A98.8 {source="ORDO:99825/ntbt", source="Orphanet:99825"} +xref: ICD10CM:A98.8 {source="Orphanet:99825", source="Orphanet:99825/ntbt"} xref: Orphanet:99825 {source="MONDO:equivalentTo"} xref: UMLS:CN207389 {source="MONDO:equivalentTo"} is_a: MONDO:0020067 {source="Orphanet:99825"} ! infectious encephalitis @@ -390251,9 +390088,9 @@ synonym: "MHF" EXACT ABBREVIATION [Orphanet:99826] xref: DOID:4327 {source="EFO:0007358", source="MONDO:equivalentTo"} xref: EFO:0007358 {source="MONDO:equivalentTo"} xref: GARD:0009444 {source="MONDO:equivalentTo"} -xref: ICD10CM:A98.3 {source="ORDO:99826/e", source="DOID:4327", source="Orphanet:99826"} +xref: ICD10CM:A98.3 {source="DOID:4327", source="Orphanet:99826", source="Orphanet:99826/e"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10026822 {source="ORDO:99826/e", source="Orphanet:99826"} +xref: MedDRA:10026822 {source="Orphanet:99826", source="Orphanet:99826/e"} xref: MESH:D008379 {source="EFO:0007358", source="DOID:4327", source="MONDO:equivalentTo"} xref: NCIT:C84883 {source="DOID:4327", source="MONDO:equivalentTo"} xref: Orphanet:99826 {source="MONDO:equivalentTo"} @@ -390280,7 +390117,7 @@ synonym: "Crimean hemorrhagic fever" EXACT [Orphanet:99827] synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [DOID:12287, ICD9CM:065.0] synonym: "Crimean-Congo haemorrhagic fever" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases] xref: DOID:12287 {source="MONDO:equivalentTo"} -xref: ICD10CM:A98.0 {source="MONDO:equivalentTo", source="ORDO:99827/e", source="Orphanet:99827", source="DOID:12287"} +xref: ICD10CM:A98.0 {source="MONDO:equivalentTo", source="Orphanet:99827", source="DOID:12287", source="Orphanet:99827/e"} xref: ICD9:065.0 {source="DOID:12287"} xref: MESH:D006479 {source="MONDO:equivalentTo", source="DOID:12287"} xref: NCIT:C34682 {source="MONDO:equivalentTo", source="DOID:12287"} @@ -390320,13 +390157,13 @@ synonym: "YF" EXACT ABBREVIATION [Orphanet:99829] xref: DOID:9682 {source="MONDO:equivalentTo"} xref: GARD:0007914 {source="MONDO:equivalentTo"} xref: ICD10CM:A95 {source="DOID:9682"} -xref: ICD10CM:A95.0 {source="ORDO:99829/btnt", source="Orphanet:99829"} -xref: ICD10CM:A95.1 {source="ORDO:99829/btnt", source="Orphanet:99829"} -xref: ICD10CM:A95.9 {source="ORDO:99829/btnt", source="Orphanet:99829", source="DOID:9682"} +xref: ICD10CM:A95.0 {source="Orphanet:99829", source="Orphanet:99829/btnt"} +xref: ICD10CM:A95.1 {source="Orphanet:99829", source="Orphanet:99829/btnt"} +xref: ICD10CM:A95.9 {source="Orphanet:99829", source="DOID:9682", source="Orphanet:99829/btnt"} xref: ICD9:060 {source="DOID:9682"} xref: ICD9:060.9 {source="DOID:9682"} -xref: MedDRA:10048240 {source="ORDO:99829/e", source="Orphanet:99829"} -xref: MESH:D015004 {source="MONDO:equivalentTo", source="ORDO:99829/e", source="Orphanet:99829", source="DOID:9682"} +xref: MedDRA:10048240 {source="Orphanet:99829/e", source="Orphanet:99829"} +xref: MESH:D015004 {source="Orphanet:99829/e", source="MONDO:equivalentTo", source="Orphanet:99829", source="DOID:9682"} xref: NCIT:C35547 {source="MONDO:equivalentTo", source="DOID:9682"} xref: Orphanet:99829 {source="MONDO:equivalentTo"} xref: SCTID:154345006 {source="DOID:9682"} @@ -390334,7 +390171,7 @@ xref: SCTID:16541001 {source="DOID:9682"} xref: SCTID:186587002 {source="DOID:9682"} xref: SCTID:187411002 {source="DOID:9682"} xref: SCTID:266194002 {source="DOID:9682"} -xref: UMLS:C0043395 {source="MONDO:equivalentTo", source="ORDO:99829/e", source="Orphanet:99829", source="DOID:9682", source="NCIT:C35547"} +xref: UMLS:C0043395 {source="Orphanet:99829/e", source="MONDO:equivalentTo", source="Orphanet:99829", source="DOID:9682", source="NCIT:C35547"} xref: UMLS:C0043397 {source="MONDO:equivalentTo"} xref: UMLS:C0043398 {source="MONDO:equivalentTo"} is_a: MONDO:0005108 {source="DOID:9682", source="MESH:D015004/inferred", source="MONDO:Redundant", source="NCIT:C35547", source="indirect"} ! viral infectious disease @@ -390356,7 +390193,7 @@ def: "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of ce subset: ordo_disease {source="Orphanet:99832"} synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [Orphanet:99832] synonym: "TRH resistance syndrome" EXACT [Orphanet:99832] -xref: ICD10CM:E03.1 {source="Orphanet:99832", source="ORDO:99832/attributed", source="ORDO:99832/ntbt"} +xref: ICD10CM:E03.1 {source="Orphanet:99832", source="Orphanet:99832/attributed", source="Orphanet:99832/ntbt"} xref: Orphanet:99832 {source="MONDO:equivalentTo"} xref: SCTID:725462002 {source="MONDO:equivalentTo"} xref: UMLS:CN207394 {source="MONDO:equivalentTo"} @@ -390367,9 +390204,9 @@ id: MONDO:0020504 name: genetic recurrent myoglobinuria def: "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." [Orphanet:99845] subset: ordo_disease {source="Orphanet:99845"} -xref: ICD10CM:R82.1 {source="MONDO:relatedTo", source="Orphanet:99845", source="ORDO:99845/attributed", source="ORDO:99845/ntbt"} -xref: OMIM:268200 {source="Orphanet:99845", source="MONDO:superClassOf", source="ORDO:99845/btnt"} -xref: OMIM:550500 {source="Orphanet:99845", source="MONDO:superClassOf", source="ORDO:99845/btnt"} +xref: ICD10CM:R82.1 {source="Orphanet:99845/attributed", source="Orphanet:99845/ntbt", source="MONDO:relatedTo", source="Orphanet:99845"} +xref: OMIM:268200 {source="Orphanet:99845/btnt", source="Orphanet:99845", source="MONDO:superClassOf"} +xref: OMIM:550500 {source="Orphanet:99845/btnt", source="Orphanet:99845", source="MONDO:superClassOf"} xref: Orphanet:99845 {source="MONDO:equivalentTo"} xref: SCTID:716721003 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism @@ -390383,7 +390220,7 @@ def: "Ravine syndrome is an extremely rare genetic neurological disorder, report subset: ordo_disease {source="Orphanet:99852"} synonym: "progressive encephalopathy with severe infantile anorexia" EXACT [Orphanet:99852] synonym: "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome" EXACT [Orphanet:99852] -xref: ICD10CM:E75.2 {source="Orphanet:99852", source="ORDO:99852/attributed", source="ORDO:99852/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:99852", source="Orphanet:99852/attributed", source="Orphanet:99852/ntbt"} xref: Orphanet:99852 {source="MONDO:equivalentTo"} xref: SCTID:715794009 {source="MONDO:equivalentTo"} xref: UMLS:C4275006 {source="MONDO:equivalentTo"} @@ -390394,9 +390231,9 @@ is_a: MONDO:0019046 {source="Orphanet:99852", source="linkedlifedata"} ! leukody id: MONDO:0020506 name: ovarioleukodystrophy subset: ordo_clinical_subtype {source="Orphanet:99853"} -xref: ICD10CM:E75.2 {source="Orphanet:99853", source="ORDO:99853/attributed", source="ORDO:99853/ntbt"} -xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:99853", source="ORDO:99853/ntbt"} -xref: OMIM:615889 {source="Orphanet:99853", source="MONDO:superClassOf", source="ORDO:99853/btnt"} +xref: ICD10CM:E75.2 {source="Orphanet:99853/attributed", source="Orphanet:99853/ntbt", source="Orphanet:99853"} +xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:99853/ntbt", source="Orphanet:99853"} +xref: OMIM:615889 {source="Orphanet:99853/btnt", source="Orphanet:99853", source="MONDO:superClassOf"} xref: Orphanet:99853 {source="MONDO:equivalentTo"} xref: UMLS:C1847967 {source="Orphanet:99853", source="MONDO:equivalentTo"} is_a: MONDO:0011380 {source="Orphanet:99853"} ! leukoencephalopathy with vanishing white matter @@ -390406,8 +390243,8 @@ property_value: confidence "11.952380952380949" xsd:double id: MONDO:0020507 name: Cree leukoencephalopathy subset: ordo_clinical_subtype {source="Orphanet:99854"} -xref: ICD10CM:E75.2 {source="Orphanet:99854", source="ORDO:99854/attributed", source="ORDO:99854/ntbt"} -xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:99854", source="ORDO:99854/ntbt"} +xref: ICD10CM:E75.2 {source="Orphanet:99854", source="Orphanet:99854/attributed", source="Orphanet:99854/ntbt"} +xref: OMIM:603896 {source="MONDO:subClassOf", source="Orphanet:99854", source="Orphanet:99854/ntbt"} xref: Orphanet:99854 {source="MONDO:equivalentTo"} xref: UMLS:C1858991 {source="MONDO:subClassOf", source="Orphanet:99854"} is_a: MONDO:0011380 {source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter @@ -390418,7 +390255,7 @@ id: MONDO:0020508 name: primary syringomyelia subset: ordo_morphological_anomaly {source="Orphanet:99856"} synonym: "congenital syringomyelia" EXACT [Orphanet:99856] -xref: ICD10CM:Q06.4 {source="Orphanet:99856", source="ORDO:99856/attributed", source="ORDO:99856/ntbt"} +xref: ICD10CM:Q06.4 {source="Orphanet:99856/attributed", source="Orphanet:99856/ntbt", source="Orphanet:99856"} xref: Orphanet:99856 {source="MONDO:equivalentTo"} xref: SCTID:371076006 {source="MONDO:equivalentTo"} xref: UMLS:C0039144 {source="MONDO:subClassOf", source="Orphanet:99856"} @@ -390432,7 +390269,7 @@ id: MONDO:0020509 name: secondary syringomyelia def: "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." [Orphanet:99857] subset: ordo_disease {source="Orphanet:99857"} -xref: ICD10CM:G95.0 {source="Orphanet:99857", source="ORDO:99857/ntbt"} +xref: ICD10CM:G95.0 {source="Orphanet:99857", source="Orphanet:99857/ntbt"} xref: Orphanet:99857 {source="MONDO:equivalentTo"} is_a: MONDO:0017987 {source="Orphanet:99857"} ! syringomyelia @@ -390441,7 +390278,7 @@ id: MONDO:0020510 name: idiopathic syringomyelia def: "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." [Orphanet:99858] subset: ordo_clinical_subtype {source="Orphanet:99858"} -xref: ICD10CM:G95.0 {source="ORDO:99858/attributed", source="ORDO:99858/ntbt", source="Orphanet:99858"} +xref: ICD10CM:G95.0 {source="Orphanet:99858", source="Orphanet:99858/attributed", source="Orphanet:99858/ntbt"} xref: Orphanet:99858 {source="MONDO:equivalentTo"} xref: SCTID:725001004 {source="MONDO:equivalentTo"} xref: UMLS:C4511700 {source="MONDO:equivalentTo"} @@ -390473,11 +390310,11 @@ synonym: "precursor B-cell acute lymphocytic leukemia" EXACT [Orphanet:99860] synonym: "precursor B-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99860] synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644] synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644] -xref: ICD10CM:C83.5 {source="ORDO:99860/ntbt", source="Orphanet:99860"} -xref: ICD10CM:C91.0 {source="ORDO:99860/ntbt", source="Orphanet:99860"} +xref: ICD10CM:C83.5 {source="Orphanet:99860/ntbt", source="Orphanet:99860"} +xref: ICD10CM:C91.0 {source="Orphanet:99860/ntbt", source="Orphanet:99860"} xref: ICDO:9836/3 {source="NCIT:C8644"} xref: NCIT:C8644 {source="MONDO:equivalentTo"} -xref: OMIM:615545 {source="ORDO:99860/btnt", source="MONDO:superClassOf", source="Orphanet:99860"} +xref: OMIM:615545 {source="Orphanet:99860/btnt", source="MONDO:superClassOf", source="Orphanet:99860"} xref: Orphanet:99860 {source="MONDO:equivalentTo"} xref: UMLS:C0006413 {source="MONDO:directSiblingOf", source="Orphanet:99860"} xref: UMLS:C1292769 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C8644", source="Orphanet:99860"} @@ -390492,7 +390329,7 @@ synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphane synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861] synonym: "T-ALL" BROAD [Orphanet:99861] -xref: ICD10CM:C91.0 {source="ORDO:99861/ntbt", source="Orphanet:99861"} +xref: ICD10CM:C91.0 {source="Orphanet:99861/ntbt", source="Orphanet:99861"} xref: Orphanet:99861 {source="MONDO:equivalentTo"} xref: UMLS:C1961099 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99861"} is_a: MONDO:0004967 {source="Orphanet:99861"} ! acute lymphoblastic leukemia @@ -390507,13 +390344,13 @@ synonym: "spermatocytoma" RELATED [DOID:5834] synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921] xref: DOID:5834 {source="MONDO:equivalentTo"} xref: DOID:7891 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -xref: ICD10CM:C62.9 {source="Orphanet:99865", source="ORDO:99865/ntbt"} +xref: ICD10CM:C62.9 {source="Orphanet:99865", source="Orphanet:99865/ntbt"} xref: ICDO:9063/3 {source="NCIT:C39921"} xref: NCIT:C39921 {source="DOID:5834", source="MONDO:equivalentTo", source="MONDO:superClassOf"} -xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:99865", source="ORDO:99865/ntbt"} +xref: OMIM:273300 {source="MONDO:subClassOf", source="Orphanet:99865", source="Orphanet:99865/ntbt"} xref: Orphanet:99865 {source="MONDO:equivalentTo"} xref: SCTID:9294008 {source="DOID:5834"} -xref: UMLS:C0334517 {source="ORDO:99865/e", source="Orphanet:99865", source="DOID:5834", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="NCIT:C39921"} +xref: UMLS:C0334517 {source="Orphanet:99865", source="DOID:5834", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="Orphanet:99865/e", source="NCIT:C39921"} is_a: MONDO:0003669 {source="DOID:7891", source="NCIT:C39921"} ! testicular seminoma relationship: excluded_subClassOf MONDO:0003667 {source="DOID:7891"} ! obsolete spermatocytoma @@ -390537,7 +390374,7 @@ subset: ordo_disease {source="Orphanet:99869"} synonym: "neuroendocrine carcinoma of thymus" EXACT [] synonym: "thymic neuroendocrine carcinoma" EXACT [] synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -xref: ICD10CM:C37 {source="ORDO:99869/ntbt", source="Orphanet:99869"} +xref: ICD10CM:C37 {source="Orphanet:99869", source="Orphanet:99869/ntbt"} xref: Orphanet:99869 {source="MONDO:equivalentTo"} xref: SCTID:716653001 {source="MONDO:equivalentTo"} xref: UMLS:C2210965 {source="MONDO:equivalentTo"} @@ -390557,15 +390394,15 @@ synonym: "eosinophilic granuloma" EXACT [NCIT:C3016] synonym: "eosinophilic xanthomatous granuloma" EXACT [NCIT:C3016] synonym: "Monostotic Langerhans cell histiocytosis" EXACT [NCIT:C3016] synonym: "unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016] -xref: ICD10CM:C96.6 {source="ORDO:99871/ntbt", source="Orphanet:99871"} +xref: ICD10CM:C96.6 {source="Orphanet:99871/ntbt", source="Orphanet:99871"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9752/1 {source="NCIT:C3016"} -xref: MedDRA:10014956 {source="ORDO:99871/e", source="Orphanet:99871"} -xref: MESH:D004803 {source="MONDO:equivalentTo", source="ORDO:99871/e", source="Orphanet:99871"} +xref: MedDRA:10014956 {source="Orphanet:99871/e", source="Orphanet:99871"} +xref: MESH:D004803 {source="Orphanet:99871/e", source="MONDO:equivalentTo", source="Orphanet:99871"} xref: NCIT:C3016 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:99871 {source="MONDO:equivalentTo"} xref: SCTID:129000002 {source="MONDO:equivalentTo"} -xref: UMLS:C0014461 {source="MONDO:equivalentTo", source="ORDO:99871/e", source="NCIT:C3016", source="Orphanet:99871"} +xref: UMLS:C0014461 {source="Orphanet:99871/e", source="MONDO:equivalentTo", source="NCIT:C3016", source="Orphanet:99871"} is_a: MONDO:0017036 {source="Orphanet:99871"} ! Langerhans cell histiocytosis in childhood and adulthood is_a: MONDO:0018310 {source="NCIT:C3016", source="NCIT:C3016/inferred", source="Orphanet:99871", source="indirect", source="linkedlifedata"} ! Langerhans cell histiocytosis @@ -390579,12 +390416,12 @@ synonym: "congenital Langerhans cell histiocytosis" EXACT [Orphanet:99872] synonym: "Hashimoto-Pritzker disease" RELATED [GARD:0002604] synonym: "Hashimoto-Pritzker histiocytosis" RELATED [GARD:0002604] xref: GARD:0002604 {source="MONDO:equivalentTo"} -xref: ICD10CM:C96.5 {source="ORDO:99872/ntbt", source="Orphanet:99872"} +xref: ICD10CM:C96.5 {source="Orphanet:99872/ntbt", source="Orphanet:99872"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C535843 {source="MONDO:equivalentTo", source="ORDO:99872/e", source="Orphanet:99872"} +xref: MESH:C535843 {source="Orphanet:99872/e", source="MONDO:equivalentTo", source="Orphanet:99872"} xref: Orphanet:99872 {source="MONDO:equivalentTo"} xref: SCTID:404160007 {source="MONDO:equivalentTo"} -xref: UMLS:C1275336 {source="MONDO:equivalentTo", source="ORDO:99872/e", source="Orphanet:99872"} +xref: UMLS:C1275336 {source="Orphanet:99872/e", source="MONDO:equivalentTo", source="Orphanet:99872"} is_a: MONDO:0017025 {source="Orphanet:99872"} ! Langerhans cell histiocytosis specific to childhood is_a: MONDO:0018310 {source="MONDO:0020518/inferred", source="Orphanet:99872", source="indirect", source="linkedlifedata"} ! Langerhans cell histiocytosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome xsd:anyURI {source="GARD:0002604"} @@ -390600,7 +390437,7 @@ synonym: "hand-Schuller-Christian disease" EXACT [NCIT:C6920] synonym: "hand-SChüller-Christian disease" EXACT [NCIT:C6920, Orphanet:99873] synonym: "multifocal eosinophilic granuloma" EXACT [Orphanet:99873] synonym: "multifocal Unisystem Langerhans cell histiocytosis" EXACT [NCIT:C6920] -xref: ICD10CM:C96.5 {source="Orphanet:99873", source="ORDO:99873/ntbt"} +xref: ICD10CM:C96.5 {source="Orphanet:99873", source="Orphanet:99873/ntbt"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:9753/1 {source="NCIT:C6920"} xref: NCIT:C6920 {source="MONDO:equivalentTo"} @@ -390620,7 +390457,7 @@ synonym: "PLCH" EXACT ABBREVIATION [NCIT:C142833] synonym: "pulmonary eosinophilic granuloma" EXACT [NCIT:C142833] synonym: "pulmonary histiocytosis X" EXACT [NCIT:C142833, Orphanet:99874] synonym: "pulmonary Langerhans cell histiocytosis" EXACT [NCIT:C142833] -xref: ICD10CM:C96.5 {source="Orphanet:99874", source="ORDO:99874/ntbt"} +xref: ICD10CM:C96.5 {source="Orphanet:99874", source="Orphanet:99874/ntbt"} xref: ICD10CM:J84.82 {source="MONDO:equivalentTo"} xref: NCIT:C142833 {source="MONDO:equivalentTo"} xref: Orphanet:99874 {source="MONDO:equivalentTo"} @@ -390637,8 +390474,8 @@ id: MONDO:0020521 name: Ehlers-Danlos syndrome type 7A subset: ordo_etiological_subtype {source="Orphanet:99875"} synonym: "EDS VIIA" EXACT [Orphanet:99875] -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:99875", source="ORDO:99875/attributed", source="ORDO:99875/ntbt"} -xref: OMIM:130060 {source="MONDO:subClassOf", source="Orphanet:99875", source="ORDO:99875/ntbt"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:99875/attributed", source="Orphanet:99875/ntbt", source="Orphanet:99875"} +xref: OMIM:130060 {source="MONDO:subClassOf", source="Orphanet:99875/ntbt", source="Orphanet:99875"} xref: Orphanet:99875 {source="MONDO:equivalentTo"} xref: UMLS:C0268345 {source="Orphanet:99875", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN207418 {source="MONDO:equivalentTo"} @@ -390656,9 +390493,9 @@ xref: GTR:AN1112503 {source="UMLS:CN706304"} xref: GTR:AN1112965 {source="UMLS:CN706304"} xref: GTR:AN1112966 {source="UMLS:CN706304"} xref: GTR:AN1112967 {source="UMLS:CN706304"} -xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:99876", source="ORDO:99876/attributed", source="ORDO:99876/ntbt"} +xref: ICD10CM:Q79.6 {source="MONDO:subClassOf", source="Orphanet:99876", source="Orphanet:99876/attributed", source="Orphanet:99876/ntbt"} xref: MESH:C565061 {source="MONDO:equivalentTo"} -xref: OMIM:130060 {source="MONDO:subClassOf", source="Orphanet:99876", source="ORDO:99876/ntbt"} +xref: OMIM:130060 {source="MONDO:subClassOf", source="Orphanet:99876", source="Orphanet:99876/ntbt"} xref: Orphanet:99876 {source="MONDO:equivalentTo"} xref: UMLS:C1851801 {source="Orphanet:99876", source="MONDO:equivalentTo"} xref: UMLS:CN706304 {source="MONDO:equivalentTo"} @@ -390670,11 +390507,11 @@ name: familial parathyroid adenoma def: "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:99877"} synonym: "hereditary parathyroid gland adenoma" EXACT [MONDO:patterns/hereditary] -xref: ICD10CM:E21.0 {source="Orphanet:99877", source="ORDO:99877/attributed", source="ORDO:99877/ntbt"} -xref: MESH:C564166 {source="ORDO:99877/e", source="Orphanet:99877"} -xref: OMIM:145000 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="Orphanet:99877", source="ORDO:99877/ntbt"} +xref: ICD10CM:E21.0 {source="Orphanet:99877/attributed", source="Orphanet:99877/ntbt", source="Orphanet:99877"} +xref: MESH:C564166 {source="Orphanet:99877", source="Orphanet:99877/e"} +xref: OMIM:145000 {source="MONDO:subClassOf", source="Orphanet:99877/ntbt", source="MONDO:relatedTo", source="Orphanet:99877"} xref: Orphanet:99877 {source="MONDO:equivalentTo"} -xref: UMLS:C1840403 {source="ORDO:99877/e", source="Orphanet:99877", source="MONDO:equivalentTo"} +xref: UMLS:C1840403 {source="Orphanet:99877", source="MONDO:equivalentTo", source="Orphanet:99877/e"} intersection_of: MONDO:0006890 ! parathyroid gland adenoma intersection_of: has_modifier MONDO:0021152 ! inherited property_value: confidence "0.2656249999999998" xsd:double @@ -390685,8 +390522,8 @@ name: primary parathyroid hyperplasia subset: ordo_disease {source="Orphanet:99878"} synonym: "familial parathyroids hyperplasia" EXACT [Orphanet:99878] synonym: "hereditary parathyroids hyperplasia" RELATED [Orphanet:99878] -xref: ICD10CM:E21.0 {source="Orphanet:99878", source="ORDO:99878/attributed", source="ORDO:99878/ntbt"} -xref: OMIM:600166 {source="Orphanet:99878", source="MONDO:superClassOf", source="ORDO:99878/btnt"} +xref: ICD10CM:E21.0 {source="Orphanet:99878/attributed", source="Orphanet:99878/ntbt", source="Orphanet:99878"} +xref: OMIM:600166 {source="Orphanet:99878/btnt", source="Orphanet:99878", source="MONDO:superClassOf"} xref: Orphanet:99878 {source="MONDO:equivalentTo"} is_a: MONDO:0016365 {source="Orphanet:99878"} ! familial primary hyperparathyroidism @@ -390704,11 +390541,11 @@ synonym: "transient neonatal diabetes mellitus (disease)" EXACT [https://orcid.o xref: DOID:0060334 {source="MONDO:equivalentTo"} xref: GARD:0001839 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: HP:0008255 {source="MONDO:otherHierarchy"} -xref: ICD10CM:P70.2 {source="MONDO:subClassOf", source="Orphanet:99886", source="DOID:0060334", source="ORDO:99886/attributed", source="ORDO:99886/ntbt"} +xref: ICD10CM:P70.2 {source="MONDO:subClassOf", source="Orphanet:99886/attributed", source="Orphanet:99886/ntbt", source="Orphanet:99886", source="DOID:0060334"} xref: NCIT:C114899 {source="MONDO:equivalentTo"} -xref: OMIM:601410 {source="Orphanet:99886", source="DOID:0060334", source="MONDO:superClassOf", source="ORDO:99886/e"} -xref: OMIM:610374 {source="Orphanet:99886", source="DOID:0060334", source="MONDO:superClassOf", source="ORDO:99886/btnt"} -xref: OMIM:610582 {source="Orphanet:99886", source="DOID:0060334", source="MONDO:superClassOf", source="ORDO:99886/btnt"} +xref: OMIM:601410 {source="Orphanet:99886", source="DOID:0060334", source="MONDO:superClassOf", source="Orphanet:99886/e"} +xref: OMIM:610374 {source="Orphanet:99886/btnt", source="Orphanet:99886", source="DOID:0060334", source="MONDO:superClassOf"} +xref: OMIM:610582 {source="Orphanet:99886/btnt", source="Orphanet:99886", source="DOID:0060334", source="MONDO:superClassOf"} xref: Orphanet:99886 {source="DOID:0060334", source="MONDO:equivalentTo"} xref: SCTID:237603002 {source="MONDO:equivalentTo"} xref: UMLS:C0342273 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C114899"} @@ -390723,7 +390560,7 @@ id: MONDO:0020526 name: acute megakaryoblastic leukemia in down syndrome subset: ordo_clinical_subtype {source="Orphanet:99887"} synonym: "DS-AMKL" EXACT [Orphanet:99887] -xref: ICD10CM:C94.2 {source="Orphanet:99887", source="ORDO:99887/ntbt"} +xref: ICD10CM:C94.2 {source="Orphanet:99887", source="Orphanet:99887/ntbt"} xref: Orphanet:99887 {source="MONDO:equivalentTo"} xref: UMLS:CN207426 {source="MONDO:equivalentTo"} is_a: MONDO:0018872 {source="Orphanet:99887"} ! acute megakaryoblastic leukemia @@ -390740,7 +390577,7 @@ synonym: "ectopic Cushing syndrome" EXACT [Orphanet:99889] synonym: "occult ectopic ACTH secretion" EXACT [Orphanet:99889] synonym: "paraneoplastic Cushing syndrome" EXACT [Orphanet:99889] xref: DOID:0060890 {source="MONDO:equivalentTo"} -xref: ICD10CM:E24.3 {source="DOID:0060890", source="Orphanet:99889", source="ORDO:99889/ntbt"} +xref: ICD10CM:E24.3 {source="DOID:0060890", source="Orphanet:99889/ntbt", source="Orphanet:99889"} xref: Orphanet:99889 {source="DOID:0060890", source="MONDO:equivalentTo"} xref: UMLS:CN207427 {source="MONDO:equivalentTo"} is_a: MONDO:0020528 {source="Orphanet:99889"} ! ACTH-dependent Cushing syndrome @@ -390764,7 +390601,7 @@ synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946] synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} xref: EFO:1001110 {source="MONDO:equivalentTo"} -xref: ICD10CM:E24.0 {source="ORDO:99892/ntbt", source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"} +xref: ICD10CM:E24.0 {source="EFO:1001110", source="MONDO:equivalentTo", source="Orphanet:99892/ntbt", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"} xref: MedDRA:10035109 {source="EFO:1001110"} xref: MESH:D047748 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"} xref: NCIT:C113210 {source="MONDO:relatedTo", source="DOID:3946"} @@ -390773,7 +390610,7 @@ xref: SCTID:190502001 {source="EFO:1001110", source="MONDO:equivalentTo", source xref: SCTID:237734007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:9545009 {source="DOID:3946"} xref: UMLS:C0221406 {source="MONDO:relatedTo", source="DOID:3946"} -xref: UMLS:C0342442 {source="MONDO:equivalentTo", source="ORDO:99892/e", source="Orphanet:99892"} +xref: UMLS:C0342442 {source="Orphanet:99892/e", source="MONDO:equivalentTo", source="Orphanet:99892"} is_a: MONDO:0006793 {source="DOID:3946", source="MESH:D047748", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpituitarism is_a: MONDO:0018912 {source="EFO:1001110", source="ICD10CM:E24.0", source="MONDO:Redundant", source="Orphanet:99892"} ! Cushing syndrome intersection_of: MONDO:0018912 ! Cushing syndrome @@ -390792,7 +390629,7 @@ subset: ordo_group_of_disorders {source="Orphanet:99893"} synonym: "adrenal Cushing syndrome" EXACT [Orphanet:99893] synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [Orphanet:99893] synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893] -xref: ICD10CM:E24.8 {source="ORDO:99893/ntbt", source="Orphanet:99893"} +xref: ICD10CM:E24.8 {source="Orphanet:99893/ntbt", source="Orphanet:99893"} xref: Orphanet:99893 {source="MONDO:equivalentTo"} xref: UMLS:CN207429 {source="MONDO:equivalentTo"} is_a: MONDO:0018912 {source="Orphanet:99893"} ! Cushing syndrome @@ -390813,11 +390650,11 @@ synonym: "Mendelian susceptibility to mycobacterial diseases due to complete int synonym: "MSMD due to complete IFNgammaR1 deficiency" EXACT [Orphanet:99898] synonym: "MSMD due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898] xref: GARD:0003011 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:D84.8 {source="Orphanet:99898", source="ORDO:99898/attributed", source="ORDO:99898/ntbt"} -xref: MESH:C535530 {source="ORDO:99898/e", source="Orphanet:99898", source="MONDO:equivalentTo"} -xref: OMIM:209950 {source="MONDO:subClassOf", source="Orphanet:99898", source="MONDO:relatedTo", source="ORDO:99898/ntbt"} +xref: ICD10CM:D84.8 {source="Orphanet:99898", source="Orphanet:99898/attributed", source="Orphanet:99898/ntbt"} +xref: MESH:C535530 {source="Orphanet:99898", source="MONDO:equivalentTo", source="Orphanet:99898/e"} +xref: OMIM:209950 {source="MONDO:subClassOf", source="Orphanet:99898", source="MONDO:relatedTo", source="Orphanet:99898/ntbt"} xref: Orphanet:99898 {source="MONDO:equivalentTo"} -xref: UMLS:C2930924 {source="ORDO:99898/e", source="Orphanet:99898", source="MONDO:equivalentTo"} +xref: UMLS:C2930924 {source="Orphanet:99898", source="MONDO:equivalentTo", source="Orphanet:99898/e"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases [Term] @@ -390836,12 +390673,12 @@ synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:0009700 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:E71.3 {source="Orphanet:99900", source="ORDO:99900/attributed", source="ORDO:99900/ntbt"} -xref: MESH:C535690 {source="ORDO:99900/e", source="Orphanet:99900", source="MONDO:equivalentTo"} +xref: ICD10CM:E71.3 {source="Orphanet:99900/attributed", source="Orphanet:99900/ntbt", source="Orphanet:99900"} +xref: MESH:C535690 {source="Orphanet:99900", source="MONDO:equivalentTo", source="Orphanet:99900/e"} xref: NCIT:C84537 {source="MONDO:equivalentTo"} xref: Orphanet:99900 {source="MONDO:equivalentTo"} xref: SCTID:237996001 {source="MONDO:equivalentTo"} -xref: UMLS:C0220711 {source="NCIT:C84537", source="ORDO:99900/e", source="Orphanet:99900", source="MONDO:equivalentTo"} +xref: UMLS:C0220711 {source="NCIT:C84537", source="Orphanet:99900", source="MONDO:equivalentTo", source="Orphanet:99900/e"} is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis @@ -390858,7 +390695,7 @@ synonym: "sodoku disease" EXACT [MONDO:0001432] synonym: "Spirillary fever" EXACT [DOID:12096, ICD9CM:026.0] synonym: "spirillosis" RELATED [DOID:12096] xref: DOID:12096 {source="MONDO:equivalentTo"} -xref: ICD10CM:A25.0 {source="ORDO:99903/e", source="DOID:12096", source="Orphanet:99903"} +xref: ICD10CM:A25.0 {source="DOID:12096", source="Orphanet:99903", source="Orphanet:99903/e"} xref: ICD9:026.0 {source="DOID:12096", source="MONDO:equivalentTo", source="i2s"} xref: MESH:D011906 {source="MONDO:subClassOf", source="DOID:12096"} xref: Orphanet:99903 {source="MONDO:equivalentTo"} @@ -390880,7 +390717,7 @@ synonym: "Streptobacillary fever" EXACT [DOID:13238, ICD9CM:026.1] synonym: "streptobacillary rat-bite fever" EXACT [DOID:13238] synonym: "Streptobacillosis" RELATED [DOID:13238] xref: DOID:13238 {source="MONDO:equivalentTo"} -xref: ICD10CM:A25.1 {source="DOID:13238", source="ORDO:99905/e", source="Orphanet:99905"} +xref: ICD10CM:A25.1 {source="DOID:13238", source="Orphanet:99905/e", source="Orphanet:99905"} xref: ICD9:026.1 {source="DOID:13238", source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:99905 {source="MONDO:equivalentTo"} xref: SCTID:52138004 {source="DOID:13238", source="MONDO:equivalentTo"} @@ -390903,7 +390740,7 @@ id: MONDO:0020535 name: house allergic alveolitis def: "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." [Orphanet:99907] subset: ordo_disease {source="Orphanet:99907"} -xref: ICD10CM:J67.8 {source="ORDO:99907/ntbt", source="Orphanet:99907"} +xref: ICD10CM:J67.8 {source="Orphanet:99907/ntbt", source="Orphanet:99907"} xref: Orphanet:99907 {source="MONDO:equivalentTo"} xref: SCTID:725415009 {source="MONDO:equivalentTo"} xref: UMLS:C4511048 {source="MONDO:equivalentTo"} @@ -390936,7 +390773,7 @@ synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:99912] synonym: "dysgerminomatous germ cell cancer of the ovary" EXACT [Orphanet:99912] synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [Orphanet:99912] synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912] -xref: ICD10CM:C56 {source="Orphanet:99912", source="ORDO:99912/ntbt"} +xref: ICD10CM:C56 {source="Orphanet:99912", source="Orphanet:99912/ntbt"} xref: Orphanet:99912 {source="MONDO:equivalentTo"} xref: UMLS:CN207439 {source="MONDO:equivalentTo"} is_a: MONDO:0018171 {source="Orphanet:99912"} ! malignant germ cell tumor of ovary @@ -390964,13 +390801,13 @@ synonym: "Gynandroblastoma of ovary" EXACT [NCIT:C3072] synonym: "Gynandroblastoma of the ovary" EXACT [NCIT:C3072] xref: EFO:1000422 {source="MONDO:equivalentTo"} xref: GARD:0009665 {source="MONDO:equivalentTo"} -xref: ICD10CM:D39.1 {source="ORDO:99914/btnt", source="Orphanet:99914"} -xref: ICD10CM:D40.1 {source="ORDO:99914/btnt", source="Orphanet:99914"} +xref: ICD10CM:D39.1 {source="Orphanet:99914", source="Orphanet:99914/btnt"} +xref: ICD10CM:D40.1 {source="Orphanet:99914", source="Orphanet:99914/btnt"} xref: ICDO:8632/1 {source="NCIT:C3072"} xref: NCIT:C3072 {source="MONDO:equivalentTo"} xref: Orphanet:99914 {source="MONDO:equivalentTo"} xref: SCTID:254867003 {source="MONDO:equivalentTo"} -xref: UMLS:C0018413 {source="NCIT:C3072", source="ORDO:99914/e", source="MONDO:equivalentTo", source="Orphanet:99914"} +xref: UMLS:C0018413 {source="NCIT:C3072", source="MONDO:equivalentTo", source="Orphanet:99914", source="Orphanet:99914/e"} xref: UMLS:C0346178 {source="MONDO:equivalentTo"} is_a: MONDO:0021657 {source="MONDO:cjm", source="NCIT:C3072/inferred"} ! ovarian sex cord-stromal tumor relationship: excluded_subClassOf MONDO:0018172 {source="Orphanet:99914"} ! malignant sex cord stromal tumor of ovary @@ -391001,15 +390838,15 @@ synonym: "malignant ovarian granulosa cell neoplasm" EXACT [NCIT:C8403] synonym: "malignant ovarian granulosa cell tumor" EXACT [NCIT:C8403] synonym: "ovarian granulosa cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:0008642 {source="MONDO:equivalentTo"} -xref: ICD10CM:C56 {source="ORDO:99915/ntbt", source="Orphanet:99915"} -xref: MESH:D006106 {source="MONDO:subClassOf", source="ORDO:99915/e", source="Orphanet:99915"} +xref: ICD10CM:C56 {source="Orphanet:99915", source="Orphanet:99915/ntbt"} +xref: MESH:D006106 {source="MONDO:subClassOf", source="Orphanet:99915", source="Orphanet:99915/e"} xref: NCIT:C8403 {source="MONDO:equivalentTo"} xref: Orphanet:99915 {source="MONDO:equivalentTo"} xref: SCTID:254861002 {source="MONDO:equivalentTo"} -xref: UMLS:C0334401 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99915/e", source="Orphanet:99915"} +xref: UMLS:C0334401 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99915", source="Orphanet:99915/e"} xref: UMLS:C0346175 {source="MONDO:equivalentTo", source="NCIT:C8403"} xref: UMLS:C1370419 {source="MONDO:subClassOf", source="GARD:0008642"} -xref: UMLS:C1567257 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99915/e", source="Orphanet:99915"} +xref: UMLS:C1567257 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99915", source="Orphanet:99915/e"} xref: UMLS:CN207442 {source="MONDO:equivalentTo"} is_a: MONDO:0006036 {source="MONDO:Redundant", source="NCIT:C8403/inferred", source="OWLReasoner:2017", source="indirect"} ! granulosa cell tumor is_a: MONDO:0018172 {source="MONDO:Entailed", source="NCIT:C8403", source="Orphanet:99915"} ! malignant sex cord stromal tumor of ovary @@ -391033,7 +390870,7 @@ synonym: "ovarian Sertoli-Leydig cell cancer" EXACT [Orphanet:99916] synonym: "ovarian Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "ovarian sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "virilizing ovarian tumor" EXACT [Orphanet:99916] -xref: ICD10CM:C56 {source="ORDO:99916/ntbt", source="Orphanet:99916"} +xref: ICD10CM:C56 {source="Orphanet:99916/ntbt", source="Orphanet:99916"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99916 {source="MONDO:equivalentTo"} xref: SCTID:237795006 {source="MONDO:equivalentTo"} @@ -391053,7 +390890,7 @@ def: "Malignant steroid cell tumor of the ovary, not otherwise specified is a ra comment: Editor note: TODO subset: ordo_disease {source="Orphanet:99917"} synonym: "theca (steroid-producing) cell cancer, not further specified" EXACT [Orphanet:99917] -xref: ICD10CM:C56 {source="ORDO:99917/ntbt", source="Orphanet:99917"} +xref: ICD10CM:C56 {source="Orphanet:99917", source="Orphanet:99917/ntbt"} xref: Orphanet:99917 {source="MONDO:equivalentTo"} xref: UMLS:CN207444 {source="MONDO:equivalentTo"} is_a: MONDO:0018172 {source="Orphanet:99917"} ! malignant sex cord stromal tumor of ovary @@ -391066,11 +390903,11 @@ subset: ordo_etiological_subtype {source="Orphanet:99918"} synonym: "streptococcal TSS" EXACT [Orphanet:99918] synonym: "Streptococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus toxic shock syndrome" EXACT [] -xref: ICD10CM:A48.3 {source="MONDO:subClassOf", source="ORDO:99918/ntbt", source="Orphanet:99918"} -xref: MedDRA:10044251 {source="ORDO:99918/e", source="Orphanet:99918"} +xref: ICD10CM:A48.3 {source="MONDO:subClassOf", source="Orphanet:99918/ntbt", source="Orphanet:99918"} +xref: MedDRA:10044251 {source="Orphanet:99918/e", source="Orphanet:99918"} xref: Orphanet:99918 {source="MONDO:equivalentTo"} xref: SCTID:240451000 {source="MONDO:equivalentTo"} -xref: UMLS:C0343532 {source="MONDO:equivalentTo", source="ORDO:99918/e", source="Orphanet:99918"} +xref: UMLS:C0343532 {source="Orphanet:99918/e", source="MONDO:equivalentTo", source="Orphanet:99918"} is_a: MONDO:0001881 {source="MONDO:Redundant", source="Orphanet:99918", source="linkedlifedata"} ! toxic shock syndrome intersection_of: MONDO:0001881 ! toxic shock syndrome intersection_of: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus @@ -391083,9 +390920,9 @@ subset: ordo_etiological_subtype {source="Orphanet:99919"} synonym: "staphylococcal TSS" EXACT [Orphanet:99919] synonym: "Staphylococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Staphylococcus toxic shock syndrome" EXACT [] -xref: ICD10CM:A48.3 {source="MONDO:subClassOf", source="ORDO:99919/ntbt", source="Orphanet:99919"} +xref: ICD10CM:A48.3 {source="MONDO:subClassOf", source="Orphanet:99919/ntbt", source="Orphanet:99919"} xref: ICD9:040.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10044250 {source="ORDO:99919/e", source="Orphanet:99919"} +xref: MedDRA:10044250 {source="Orphanet:99919/e", source="Orphanet:99919"} xref: Orphanet:99919 {source="MONDO:equivalentTo"} xref: SCTID:240450004 {source="MONDO:equivalentTo"} xref: UMLS:C3714602 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99919"} @@ -391106,9 +390943,9 @@ synonym: "graft versus host disease, acute" EXACT [MONDO:patterns/acute] synonym: "GVHD, acute" EXACT [NCIT:C4980] xref: GARD:0006544 {source="MONDO:equivalentTo"} xref: ICD10CM:D89.810 {source="MONDO:equivalentTo"} -xref: ICD10CM:T86.0 {source="Orphanet:99920", source="ORDO:99920/ntbt"} +xref: ICD10CM:T86.0 {source="Orphanet:99920", source="Orphanet:99920/ntbt"} xref: ICD9:279.51 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10066260 {source="ORDO:99920/e", source="Orphanet:99920"} +xref: MedDRA:10066260 {source="Orphanet:99920", source="Orphanet:99920/e"} xref: NCIT:C4980 {source="MONDO:equivalentTo"} xref: Orphanet:99920 {source="MONDO:equivalentTo"} xref: SCTID:402355000 {source="MONDO:equivalentTo"} @@ -391130,14 +390967,14 @@ synonym: "graft versus host disease, chronic" EXACT [MONDO:patterns/chronic] synonym: "GVHD, chronic" EXACT [NCIT:C4981] xref: GARD:0010964 {source="MONDO:equivalentTo"} xref: ICD10CM:D89.811 {source="MONDO:equivalentTo"} -xref: ICD10CM:T86.0 {source="Orphanet:99921", source="ORDO:99921/ntbt"} +xref: ICD10CM:T86.0 {source="Orphanet:99921/ntbt", source="Orphanet:99921"} xref: ICD9:279.52 {source="MONDO:equivalentTo", source="i2s"} -xref: MedDRA:10066261 {source="ORDO:99921/e", source="Orphanet:99921"} -xref: MESH:D006086 {source="MONDO:subClassOf", source="ORDO:99921/e", source="Orphanet:99921"} +xref: MedDRA:10066261 {source="Orphanet:99921", source="Orphanet:99921/e"} +xref: MESH:D006086 {source="MONDO:subClassOf", source="Orphanet:99921", source="Orphanet:99921/e"} xref: NCIT:C4981 {source="MONDO:equivalentTo"} xref: Orphanet:99921 {source="MONDO:equivalentTo"} xref: SCTID:402356004 {source="MONDO:equivalentTo"} -xref: UMLS:C0867389 {source="ORDO:99921/e", source="Orphanet:99921", source="MONDO:equivalentTo", source="NCIT:C4981"} +xref: UMLS:C0867389 {source="Orphanet:99921", source="MONDO:equivalentTo", source="NCIT:C4981", source="Orphanet:99921/e"} is_a: MONDO:0013730 {source="MONDO:Redundant", source="NCIT:C4981", source="Orphanet:99921", source="linkedlifedata"} ! graft versus host disease intersection_of: MONDO:0013730 ! graft versus host disease intersection_of: has_modifier PATO:0001863 ! chronic @@ -391148,9 +390985,9 @@ id: MONDO:0020548 name: ocular pemphigoid def: "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." [Orphanet:99922] subset: ordo_disease {source="Orphanet:99922"} -xref: ICD10EXP:H13.3* {source="ORDO:99922/e", source="Orphanet:99922"} -xref: ICD10EXP:L12+ {source="ORDO:99922/e", source="Orphanet:99922"} -xref: MedDRA:10067776 {source="ORDO:99922/e", source="Orphanet:99922"} +xref: ICD10EXP:H13.3* {source="Orphanet:99922", source="Orphanet:99922/e"} +xref: ICD10EXP:L12+ {source="Orphanet:99922", source="Orphanet:99922/e"} +xref: MedDRA:10067776 {source="Orphanet:99922", source="Orphanet:99922/e"} xref: Orphanet:99922 {source="MONDO:equivalentTo"} xref: SCTID:34250006 {source="MONDO:equivalentTo"} xref: UMLS:C0157721 {source="Orphanet:99922", source="MONDO:notFoundInDiseaseSubset"} @@ -391169,7 +391006,7 @@ synonym: "invasive gestational trophoblastic neoplasm" EXACT [NCIT:C6985] synonym: "invasive hydatidiform Mole" EXACT [NCIT:C6985] synonym: "invasive hydatidiform mole" EXACT [NCIT:C6985] synonym: "invasive Mole" EXACT [NCIT:C6985] -xref: ICD10CM:D39.2 {source="ORDO:99925/ntbt", source="Orphanet:99925"} +xref: ICD10CM:D39.2 {source="Orphanet:99925", source="Orphanet:99925/ntbt"} xref: ICDO:9100/1 {source="NCIT:C6985"} xref: MESH:D002820 {source="MONDO:equivalentTo"} xref: NCIT:C6985 {source="MONDO:equivalentTo"} @@ -391193,14 +391030,14 @@ synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [DOID:202 synonym: "gestational chorionepithelioma" EXACT [DOID:2025] synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025] xref: DOID:2025 {source="MONDO:equivalentTo"} -xref: ICD10CM:C58 {source="ORDO:99926/ntbt", source="Orphanet:99926"} +xref: ICD10CM:C58 {source="Orphanet:99926", source="Orphanet:99926/ntbt"} xref: ICD9:181 {source="MONDO:equivalentTo", source="i2s"} xref: NCIT:C4646 {source="DOID:2025", source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:99926 {source="MONDO:equivalentTo"} xref: SCTID:1884006 {source="DOID:2025"} xref: SCTID:417057000 {source="DOID:2025"} xref: SCTID:417570003 {source="DOID:2025", source="MONDO:equivalentTo"} -xref: UMLS:C0349557 {source="DOID:2025", source="MONDO:equivalentTo", source="ORDO:99926/e", source="Orphanet:99926", source="NCIT:C4646"} +xref: UMLS:C0349557 {source="DOID:2025", source="MONDO:equivalentTo", source="Orphanet:99926", source="NCIT:C4646", source="Orphanet:99926/e"} is_a: MONDO:0001416 {source="DOID:2025/inferred", source="MONDO:Redundant", source="NCIT:C4646"} ! female reproductive organ cancer is_a: MONDO:0005207 {source="DOID:2025", source="NCIT:C4646", source="linkedlifedata"} ! choriocarcinoma is_a: MONDO:0018944 {source="NCIT:C4646", source="Orphanet:99926", source="linkedlifedata"} ! gestational trophoblastic neoplasm @@ -391226,15 +391063,15 @@ synonym: "placental-site GTT" EXACT [NCIT:C3757] synonym: "PSST" EXACT ABBREVIATION [Orphanet:99928] xref: DOID:3596 {source="EFO:1001111", source="MONDO:equivalentTo"} xref: EFO:1001111 {source="MONDO:equivalentTo"} -xref: ICD10CM:D39.2 {source="ORDO:99928/ntbt", source="Orphanet:99928"} +xref: ICD10CM:D39.2 {source="Orphanet:99928", source="Orphanet:99928/ntbt"} xref: ICDO:9104/1 {source="NCIT:C3757"} -xref: MESH:D018245 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="ORDO:99928/e", source="Orphanet:99928"} +xref: MESH:D018245 {source="Orphanet:99928/e", source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="Orphanet:99928"} xref: NCIT:C3757 {source="DOID:3596", source="MONDO:equivalentTo"} xref: ONCOTREE:PSTT {source="MONDO:equivalentTo"} xref: Orphanet:99928 {source="MONDO:equivalentTo"} xref: SCTID:237252008 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo"} xref: SCTID:75320001 {source="DOID:3596"} -xref: UMLS:C0206666 {source="DOID:3596", source="MONDO:equivalentTo", source="ORDO:99928/e", source="Orphanet:99928", source="NCIT:C3757"} +xref: UMLS:C0206666 {source="Orphanet:99928/e", source="DOID:3596", source="MONDO:equivalentTo", source="Orphanet:99928", source="NCIT:C3757"} is_a: MONDO:0005207 {source="DOID:3596", source="EFO:1001111", source="MESH:D018245"} ! choriocarcinoma is_a: MONDO:0018944 {source="NCIT:C3757", source="Orphanet:99928", source="linkedlifedata"} ! gestational trophoblastic neoplasm @@ -391243,8 +391080,8 @@ id: MONDO:0020553 name: secondary pulmonary hemosiderosis def: "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" [Orphanet:99930] subset: ordo_disease {source="Orphanet:99930"} -xref: ICD10EXP:E83.1+ {source="Orphanet:99930", source="ORDO:99930/ntbt"} -xref: ICD10EXP:J99.8* {source="Orphanet:99930", source="ORDO:99930/ntbt"} +xref: ICD10EXP:E83.1+ {source="Orphanet:99930/ntbt", source="Orphanet:99930"} +xref: ICD10EXP:J99.8* {source="Orphanet:99930/ntbt", source="Orphanet:99930"} xref: Orphanet:99930 {source="MONDO:equivalentTo"} xref: SCTID:716712004 {source="MONDO:equivalentTo"} xref: UMLS:C4274326 {source="MONDO:equivalentTo"} @@ -391257,8 +391094,8 @@ name: Heiner syndrome def: "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." [Orphanet:99932] subset: ordo_clinical_subtype {source="Orphanet:99932"} synonym: "cow's milk hypersensitivity" EXACT [Orphanet:99932] -xref: ICD10EXP:E83.1+ {source="Orphanet:99932", source="ORDO:99932/ntbt"} -xref: ICD10EXP:J99.8* {source="Orphanet:99932", source="ORDO:99932/ntbt"} +xref: ICD10EXP:E83.1+ {source="Orphanet:99932/ntbt", source="Orphanet:99932"} +xref: ICD10EXP:J99.8* {source="Orphanet:99932/ntbt", source="Orphanet:99932"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:99932 {source="MONDO:equivalentTo"} xref: SCTID:707441009 {source="MONDO:equivalentTo"} @@ -391271,11 +391108,11 @@ name: pleuropulmonary blastoma type 1 def: "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:99933"} synonym: "type I pleuropulmonary blastoma" EXACT [NCIT:C45626] -xref: ICD10CM:C34.1 {source="Orphanet:99933", source="ORDO:99933/nd"} -xref: ICD10CM:C34.2 {source="Orphanet:99933", source="ORDO:99933/nd"} -xref: ICD10CM:C34.3 {source="Orphanet:99933", source="ORDO:99933/nd"} -xref: ICD10CM:C34.8 {source="Orphanet:99933", source="ORDO:99933/nd"} -xref: ICD10CM:C34.9 {source="Orphanet:99933", source="ORDO:99933/nd"} +xref: ICD10CM:C34.1 {source="Orphanet:99933", source="Orphanet:99933/nd"} +xref: ICD10CM:C34.2 {source="Orphanet:99933", source="Orphanet:99933/nd"} +xref: ICD10CM:C34.3 {source="Orphanet:99933", source="Orphanet:99933/nd"} +xref: ICD10CM:C34.8 {source="Orphanet:99933", source="Orphanet:99933/nd"} +xref: ICD10CM:C34.9 {source="Orphanet:99933", source="Orphanet:99933/nd"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C45626 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:99933 {source="MONDO:equivalentTo"} @@ -391289,11 +391126,11 @@ name: pleuropulmonary blastoma type 2 def: "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:99934"} synonym: "type II pleuropulmonary blastoma" EXACT [NCIT:C45627] -xref: ICD10CM:C34.1 {source="ORDO:99934/nd", source="Orphanet:99934"} -xref: ICD10CM:C34.2 {source="ORDO:99934/nd", source="Orphanet:99934"} -xref: ICD10CM:C34.3 {source="ORDO:99934/nd", source="Orphanet:99934"} -xref: ICD10CM:C34.8 {source="ORDO:99934/nd", source="Orphanet:99934"} -xref: ICD10CM:C34.9 {source="ORDO:99934/nd", source="Orphanet:99934"} +xref: ICD10CM:C34.1 {source="Orphanet:99934", source="Orphanet:99934/nd"} +xref: ICD10CM:C34.2 {source="Orphanet:99934", source="Orphanet:99934/nd"} +xref: ICD10CM:C34.3 {source="Orphanet:99934", source="Orphanet:99934/nd"} +xref: ICD10CM:C34.8 {source="Orphanet:99934", source="Orphanet:99934/nd"} +xref: ICD10CM:C34.9 {source="Orphanet:99934", source="Orphanet:99934/nd"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C45627 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:99934 {source="MONDO:equivalentTo"} @@ -391307,11 +391144,11 @@ name: pleuropulmonary blastoma type 3 def: "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:99935"} synonym: "type III pleuropulmonary blastoma" EXACT [NCIT:C45628] -xref: ICD10CM:C34.1 {source="ORDO:99935/nd", source="Orphanet:99935"} -xref: ICD10CM:C34.2 {source="ORDO:99935/nd", source="Orphanet:99935"} -xref: ICD10CM:C34.3 {source="ORDO:99935/nd", source="Orphanet:99935"} -xref: ICD10CM:C34.8 {source="ORDO:99935/nd", source="Orphanet:99935"} -xref: ICD10CM:C34.9 {source="ORDO:99935/nd", source="Orphanet:99935"} +xref: ICD10CM:C34.1 {source="Orphanet:99935", source="Orphanet:99935/nd"} +xref: ICD10CM:C34.2 {source="Orphanet:99935", source="Orphanet:99935/nd"} +xref: ICD10CM:C34.3 {source="Orphanet:99935", source="Orphanet:99935/nd"} +xref: ICD10CM:C34.8 {source="Orphanet:99935", source="Orphanet:99935/nd"} +xref: ICD10CM:C34.9 {source="Orphanet:99935", source="Orphanet:99935/nd"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="i2s"} xref: NCIT:C45628 {source="MONDO:equivalentTo", source="exact-label-match"} xref: Orphanet:99935 {source="MONDO:equivalentTo"} @@ -391327,9 +391164,9 @@ subset: ordo_disease {source="Orphanet:99944"} synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [NCIT:C133886] synonym: "CMT2K" EXACT ABBREVIATION [Orphanet:99944] xref: GARD:0009199 {source="MONDO:equivalentTo"} -xref: ICD10CM:G60.0 {source="Orphanet:99944", source="ORDO:99944/attributed", source="ORDO:99944/ntbt"} +xref: ICD10CM:G60.0 {source="Orphanet:99944/attributed", source="Orphanet:99944/ntbt", source="Orphanet:99944"} xref: NCIT:C133886 {source="MONDO:equivalentTo"} -xref: OMIM:607831 {source="MONDO:subClassOf", source="Orphanet:99944", source="ORDO:99944/ntbt", source="MONDO:directSiblingOf"} +xref: OMIM:607831 {source="MONDO:subClassOf", source="Orphanet:99944/ntbt", source="Orphanet:99944", source="MONDO:directSiblingOf"} xref: Orphanet:99944 {source="MONDO:equivalentTo"} xref: SCTID:719512003 {source="MONDO:equivalentTo"} xref: UMLS:C1842983 {source="Orphanet:99944", source="NCIT:C133886", source="MONDO:directSiblingOf"} @@ -391343,10 +391180,10 @@ id: MONDO:0020559 name: O'Sullivan-McLeod syndrome def: "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." [Orphanet:99965] subset: ordo_clinical_subtype {source="Orphanet:99965"} -xref: ICD10CM:G12.8 {source="Orphanet:99965", source="ORDO:99965/ntbt"} -xref: MedDRA:10069682 {source="ORDO:99965/e", source="Orphanet:99965"} +xref: ICD10CM:G12.8 {source="Orphanet:99965/ntbt", source="Orphanet:99965"} +xref: MedDRA:10069682 {source="Orphanet:99965", source="Orphanet:99965/e"} xref: Orphanet:99965 {source="MONDO:equivalentTo"} -xref: UMLS:C2721741 {source="ORDO:99965/e", source="Orphanet:99965", source="MONDO:equivalentTo"} +xref: UMLS:C2721741 {source="Orphanet:99965", source="MONDO:equivalentTo", source="Orphanet:99965/e"} is_a: MONDO:0011224 {source="Orphanet:99965"} ! monomelic amyotrophy [Term] @@ -391387,10 +391224,10 @@ synonym: "rhabdoid tumor of the CNS" EXACT [DOID:2129, NCIT:C6906] synonym: "rhabdoid tumor predisposition syndrome" RELATED [DOID:2129] xref: DOID:2129 {source="MONDO:equivalentTo"} xref: EFO:1002008 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="Orphanet:99966", source="ORDO:99966/ntbt"} +xref: ICD10CM:C49.9 {source="Orphanet:99966/ntbt", source="Orphanet:99966"} xref: ICDO:9508/3 {source="NCIT:C6906"} xref: NCIT:C6906 {source="DesignPattern", source="MONDO:equivalentTo", source="DOID:2129"} -xref: OMIM:609322 {source="MONDO:relatedTo", source="Orphanet:99966", source="DOID:2129", source="ORDO:99966/ntbt"} +xref: OMIM:609322 {source="Orphanet:99966/ntbt", source="MONDO:relatedTo", source="Orphanet:99966", source="DOID:2129"} xref: ONCOTREE:ATRT {source="MONDO:equivalentTo"} xref: Orphanet:99966 {source="MONDO:equivalentTo"} xref: SCTID:128792003 {source="DOID:2129"} @@ -391409,13 +391246,13 @@ def: "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly subset: ordo_histopathological_subtype {source="Orphanet:99967"} synonym: "MRCLS" EXACT ABBREVIATION [Orphanet:99967] synonym: "myxoid/round-cell liposarcoma" RELATED [ONCOTREE:MRLS] -xref: ICD10CM:C49.9 {source="Orphanet:99967", source="ORDO:99967/ntbt"} -xref: MESH:D018208 {source="ORDO:99967/e", source="MONDO:superClassOf", source="Orphanet:99967"} +xref: ICD10CM:C49.9 {source="Orphanet:99967", source="Orphanet:99967/ntbt"} +xref: MESH:D018208 {source="MONDO:superClassOf", source="Orphanet:99967", source="Orphanet:99967/e"} xref: NCIT:C27781 {source="ONCOTREE:MRLS"} -xref: OMIM:613488 {source="MONDO:superClassOf", source="Orphanet:99967", source="ORDO:99967/btnt"} +xref: OMIM:613488 {source="MONDO:superClassOf", source="Orphanet:99967", source="Orphanet:99967/btnt"} xref: ONCOTREE:MRLS {source="MONDO:equivalentTo"} xref: Orphanet:99967 {source="MONDO:equivalentTo"} -xref: UMLS:C0206634 {source="ORDO:99967/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99967"} +xref: UMLS:C0206634 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99967", source="Orphanet:99967/e"} is_a: MONDO:0005060 {source="ONCOTREE:MRLS", source="Orphanet:99967"} ! liposarcoma [Term] @@ -391429,7 +391266,7 @@ synonym: "PLLS" RELATED ABBREVIATION [ONCOTREE:PLLS] synonym: "PLS" EXACT ABBREVIATION [Orphanet:99969] xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"} xref: EFO:0003083 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:99969/ntbt", source="Orphanet:99969"} +xref: ICD10CM:C49.9 {source="Orphanet:99969", source="Orphanet:99969/ntbt"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8854/3 {source="NCIT:C3705"} xref: MESH:D008080 {source="MONDO:subClassOf", source="DOID:5702"} @@ -391438,7 +391275,7 @@ xref: ONCOTREE:PLLS {source="MONDO:equivalentTo"} xref: Orphanet:99969 {source="MONDO:equivalentTo"} xref: SCTID:112683004 {source="DOID:5702", source="EFO:0003083"} xref: SCTID:404071006 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083"} -xref: UMLS:C0205825 {source="NCIT:C3705", source="ORDO:99969/e", source="DOID:5702", source="MONDO:equivalentTo", source="Orphanet:99969"} +xref: UMLS:C0205825 {source="NCIT:C3705", source="DOID:5702", source="MONDO:equivalentTo", source="Orphanet:99969", source="Orphanet:99969/e"} is_a: MONDO:0005060 {source="DOID:5702", source="EFO:0003083", source="NCIT:C3705", source="ONCOTREE:PLLS", source="Orphanet:99969", source="linkedlifedata"} ! liposarcoma [Term] @@ -391450,7 +391287,7 @@ synonym: "DDLS" EXACT ABBREVIATION [ONCOTREE:DDLS, Orphanet:99970] synonym: "Dedifferentiated liposarcoma" EXACT [NCIT:C3704] xref: DOID:0080531 {source="MONDO:equivalentTo"} xref: EFO:0003085 {source="MONDO:equivalentTo"} -xref: ICD10CM:C49.9 {source="ORDO:99970/ntbt", source="Orphanet:99970"} +xref: ICD10CM:C49.9 {source="Orphanet:99970/ntbt", source="Orphanet:99970"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="i2s"} xref: ICDO:8858/3 {source="NCIT:C3704"} xref: NCIT:C3704 {source="MONDO:equivalentTo", source="EFO:0003085", source="exact-label-match"} @@ -391458,7 +391295,7 @@ xref: ONCOTREE:DDLS {source="MONDO:equivalentTo"} xref: Orphanet:99970 {source="MONDO:equivalentTo"} xref: SCTID:404072004 {source="MONDO:equivalentTo", source="EFO:0003085"} xref: SCTID:67280001 {source="EFO:0003085"} -xref: UMLS:C0205824 {source="NCIT:C3704", source="MONDO:equivalentTo", source="ORDO:99970/e", source="Orphanet:99970"} +xref: UMLS:C0205824 {source="NCIT:C3704", source="Orphanet:99970/e", source="MONDO:equivalentTo", source="Orphanet:99970"} is_a: MONDO:0005060 {source="EFO:0003085", source="NCIT:C3704", source="ONCOTREE:DDLS", source="Orphanet:99970", source="linkedlifedata"} ! liposarcoma [Term] @@ -391484,11 +391321,11 @@ id: MONDO:0020567 name: apnea of prematurity def: "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." [Orphanet:99981] subset: ordo_clinical_subtype {source="Orphanet:99981"} -xref: ICD10CM:P28.4 {source="ORDO:99981/ntbt", source="Orphanet:99981"} +xref: ICD10CM:P28.4 {source="Orphanet:99981/ntbt", source="Orphanet:99981"} xref: NCIT:C98823 {source="MONDO:equivalentTo"} xref: Orphanet:99981 {source="MONDO:equivalentTo"} xref: SCTID:276544005 {source="MONDO:equivalentTo"} -xref: UMLS:C0475715 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99981/e", source="Orphanet:99981"} +xref: UMLS:C0475715 {source="Orphanet:99981/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99981"} is_a: MONDO:0019092 {source="Orphanet:99981"} ! infantile apnea [Term] @@ -391496,10 +391333,10 @@ id: MONDO:0020568 name: cutaneous myiasis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99983"} -xref: ICD10CM:B87.0 {source="Orphanet:99983", source="MONDO:equivalentTo", source="ORDO:99983/ntbt"} +xref: ICD10CM:B87.0 {source="Orphanet:99983", source="Orphanet:99983/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:99983 {source="MONDO:equivalentTo"} xref: SCTID:240877000 {source="MONDO:equivalentTo"} -xref: UMLS:C0027031 {source="Orphanet:99983", source="MONDO:equivalentTo", source="ORDO:99983/e"} +xref: UMLS:C0027031 {source="Orphanet:99983", source="MONDO:equivalentTo", source="Orphanet:99983/e"} is_a: MONDO:0019147 {source="Orphanet:99983", source="linkedlifedata"} ! myiasis [Term] @@ -391522,7 +391359,7 @@ replaced_by: MONDO:0005680 id: MONDO:0020571 name: relapsing epidemic typhus subset: ordo_clinical_subtype {source="Orphanet:99991"} -xref: ICD10CM:A75.0 {source="ORDO:99991/ntbt", source="Orphanet:99991"} +xref: ICD10CM:A75.0 {source="Orphanet:99991/ntbt", source="Orphanet:99991"} xref: Orphanet:99991 {source="MONDO:equivalentTo"} xref: UMLS:CN207497 {source="MONDO:equivalentTo"} is_a: MONDO:0019362 {source="Orphanet:99991"} ! epidemic louse-borne typhus @@ -391538,9 +391375,9 @@ synonym: "Complex regional pain syndrome, type II" EXACT [DOID:3222] synonym: "CRPS II" EXACT [NCIT:C121572] xref: DOID:3222 {source="MONDO:equivalentTo", source="EFO:1000854"} xref: EFO:1000854 {source="MONDO:equivalentTo"} -xref: ICD10CM:G56.4 {source="Orphanet:99994", source="ORDO:99994/e"} +xref: ICD10CM:G56.4 {source="Orphanet:99994", source="Orphanet:99994/e"} xref: MedDRA:10007825 {source="EFO:1000854"} -xref: MedDRA:10064335 {source="Orphanet:99994", source="ORDO:99994/e"} +xref: MedDRA:10064335 {source="Orphanet:99994", source="Orphanet:99994/e"} xref: MESH:D002422 {source="DOID:3222", source="MONDO:equivalentTo", source="EFO:1000854"} xref: NCIT:C121572 {source="DOID:3222", source="MONDO:equivalentTo"} xref: Orphanet:99994 {source="MONDO:equivalentTo"} @@ -391993,7 +391830,7 @@ xref: DOID:0080352 {source="MONDO:equivalentTo"} xref: GARD:0006189 {source="MONDO:equivalentTo"} xref: OMIM:302960 {source="DOID:0080352", source="MONDO:equivalentTo"} xref: Orphanet:35173 {source="OMIM:302960", source="MONDO:equivalentTo", source="GARD:0006189", source="DOID:0060292"} -xref: UMLS:C0282102 {source="OMIM:302960", source="NCBI:mim2gene_medline", source="ORDO:35173/e", source="Orphanet:35173", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C0282102 {source="OMIM:302960", source="NCBI:mim2gene_medline", source="Orphanet:35173", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35173/e"} xref: UMLS:C2931843 {source="OMIM:302960", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0015775 {source="Orphanet:35173"} ! non-rhizomelic chondrodysplasia punctata @@ -393066,7 +392903,7 @@ synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080] xref: OMIM:130080 {source="MONDO:equivalentTo"} xref: Orphanet:75392 {source="OMIM:130080"} xref: UMLS:C0268347 {source="OMIM:130080", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0007527 {source="ORDO:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type +is_a: MONDO:0007527 {source="Orphanet:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type is_a: MONDO:0020066 {source="OMIM:130080"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0007527 ! Ehlers-Danlos syndrome, periodontitis type intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1246 ! C1R @@ -393223,7 +393060,7 @@ name: glycogen storage disease due to liver phosphorylase kinase deficiency def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:264580] subset: ordo_disease {source="Orphanet:264580"} xref: ICD10CM:E74.0 {source="Orphanet:264580"} -xref: OMIM:306000 {source="MONDO:superClassOf", source="ORDO:264580/btnt", source="Orphanet:264580"} +xref: OMIM:306000 {source="MONDO:superClassOf", source="Orphanet:264580/btnt", source="Orphanet:264580"} xref: OMIM:613027 {source="MONDO:superClassOf", source="Orphanet:264580"} xref: Orphanet:264580 {source="MONDO:equivalentTo"} xref: UMLS:C2751643 {source="Orphanet:264580"} @@ -393343,8 +393180,8 @@ xref: GARD:0009164 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.8 {source="Orphanet:97238"} xref: MedDRA:10069417 {source="Orphanet:97238"} xref: MESH:C535685 {source="Orphanet:97238"} -xref: OMIM:600332 {source="Orphanet:97238", source="MONDO:superClassOf", source="ORDO:97238/btnt"} -xref: OMIM:606072 {source="ORDO:97238/e", source="Orphanet:97238", source="MONDO:superClassOf"} +xref: OMIM:600332 {source="Orphanet:97238/btnt", source="Orphanet:97238", source="MONDO:superClassOf"} +xref: OMIM:606072 {source="Orphanet:97238", source="MONDO:superClassOf", source="Orphanet:97238/e"} xref: Orphanet:97238 {source="MONDO:equivalentTo"} xref: UMLS:C1853698 {source="Orphanet:97238", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0016110 {source="Orphanet:97238"} ! non-dystrophic myopathy @@ -393511,7 +393348,7 @@ name: autosomal dominant woolly hair synonym: "ADWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194300] synonym: "woolly hair, autosomal dominant" EXACT [OMIM:194300, OMIM:genemap2] xref: DOID:0111573 {source="MONDO:equivalentTo"} -xref: OMIM:194300 {source="ORDO:170/e", source="MONDO:equivalentTo", source="Orphanet:170"} +xref: OMIM:194300 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} xref: UMLS:C1860238 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:194300"} is_a: MONDO:0008686 ! isolated familial woolly hair disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28929 {source="mim2gene_medgen"} ! KRT74 @@ -393575,9 +393412,9 @@ synonym: "X-linked sideroblastic anemia" EXACT [MONDO:0010419] synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563] xref: DOID:0060063 {source="MONDO:equivalentTo"} xref: GARD:0009456 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D64.0 {source="Orphanet:75563", source="ORDO:75563/attributed", source="ORDO:75563/ntbt"} -xref: MESH:C536761 {source="Orphanet:75563", source="MONDO:equivalentTo", source="ORDO:75563/e"} -xref: OMIM:300751 {source="Orphanet:75563", source="MONDO:equivalentTo", source="ORDO:75563/e", source="DOID:0060063"} +xref: ICD10CM:D64.0 {source="Orphanet:75563", source="Orphanet:75563/attributed", source="Orphanet:75563/ntbt"} +xref: MESH:C536761 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e"} +xref: OMIM:300751 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e", source="DOID:0060063"} xref: Orphanet:75563 {source="MONDO:equivalentTo", source="OMIM:300751"} xref: SCTID:62677000 {source="MONDO:equivalentTo"} xref: UMLS:C0221018 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300751"} @@ -393618,7 +393455,7 @@ synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lexical, OMIM:264700] synonym: "vitamin D-dependent rickets, type 1A" EXACT [OMIM:264700] synonym: "vitamin D-dependent rickets, type I" EXACT [OMIM:264700, OMIM:genemap2] -xref: OMIM:264700 {source="ORDO:289157/e", source="Orphanet:289157", source="MONDO:equivalentTo"} +xref: OMIM:264700 {source="Orphanet:289157", source="MONDO:equivalentTo", source="Orphanet:289157/e"} xref: Orphanet:289157 {source="MONDO:subClassOf", source="OMIM:264700"} xref: UMLS:C0268689 {source="MONDO:subClassOf", source="Orphanet:289157", source="NCIT:C131073", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:264700"} is_a: MONDO:0005520 {source="DC-OMIM:264700", source="MESH:C562688/inferred", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickets @@ -393643,7 +393480,7 @@ synonym: "cerebral cavernous malformations-1" EXACT [OMIM:116860, OMIM:genemap2] synonym: "familial cerebral cavernous malformation 1" EXACT [Orphanet:221061] synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860] xref: DOID:0080491 {source="MONDO:equivalentTo"} -xref: OMIM:116860 {source="MONDO:equivalentTo", source="ORDO:221061/e", source="Orphanet:221061"} +xref: OMIM:116860 {source="Orphanet:221061/e", source="MONDO:equivalentTo", source="Orphanet:221061"} xref: Orphanet:221061 {source="MONDO:subClassOf", source="OMIM:116860"} xref: UMLS:C1366911 {source="OMIM:116860", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1861785 {source="OMIM:116860", source="MONDO:notFoundInDiseaseSubset"} @@ -393693,9 +393530,9 @@ synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" REL synonym: "MUCI-related ADTKD" EXACT [Orphanet:88949] synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] xref: GARD:0007002 {source="shared-umls-xref", source="MONDO:equivalentTo"} -xref: ICD10CM:Q61.5 {source="ORDO:88949/attributed", source="ORDO:88949/ntbt", source="Orphanet:88949"} +xref: ICD10CM:Q61.5 {source="Orphanet:88949/attributed", source="Orphanet:88949/ntbt", source="Orphanet:88949"} xref: NCIT:C123171 {source="MONDO:equivalentTo"} -xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:equivalentTo", source="GARD:0010801", source="ORDO:34149/e"} +xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:equivalentTo", source="Orphanet:34149/e", source="GARD:0010801"} xref: Orphanet:34149 {source="MONDO:subClassOf", source="OMIM:174000", source="GARD:0010801"} xref: Orphanet:88949 {source="MONDO:equivalentTo"} xref: UMLS:C1868139 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:174000"} @@ -393715,7 +393552,7 @@ synonym: "combined oxidative phosphorylation deficiency 22" EXACT [MONDO:Lexical synonym: "combined oxidative phosphorylation deficiency type 22" RELATED [MONDORULE:2, OMIM:616045] synonym: "COXPD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616045] xref: DOID:0111498 {source="MONDO:equivalentTo"} -xref: OMIM:616045 {source="MONDO:equivalentTo", source="ORDO:254913/w", source="Orphanet:254913"} +xref: OMIM:616045 {source="Orphanet:254913/w", source="MONDO:equivalentTo", source="Orphanet:254913"} xref: Orphanet:254913 {source="MONDO:subClassOf", source="OMIM:616045"} is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0014471 {source="MONDO:prototype"} ! mitochondrial proton-transporting ATP synthase complex deficiency @@ -393732,7 +393569,7 @@ synonym: "hypouricemia, renal, 1" RELATED [MONDO:Lexical, OMIM:220150] synonym: "hypouricemia, renal, type 1" RELATED [MONDORULE:1, OMIM:220150] synonym: "renal hypouricemia" RELATED [OMIM:220150] synonym: "RHUC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220150] -xref: OMIM:220150 {source="Orphanet:94088", source="MONDO:equivalentTo", source="ORDO:94088/e"} +xref: OMIM:220150 {source="Orphanet:94088", source="MONDO:equivalentTo", source="Orphanet:94088/e"} xref: Orphanet:94088 {source="MONDO:subClassOf", source="OMIM:220150"} xref: UMLS:C0473219 {source="OMIM:220150", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0009071 {source="MONDO:prototype"} ! hereditary renal hypouricemia @@ -393748,7 +393585,7 @@ synonym: "agammaglobulinemia 1, autosomal recessive" RELATED [MONDO:Lexical, OMI synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495] synonym: "AGM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601495] synonym: "autosomal recessive agammaglobulinemia 1" EXACT CLINGEN_PREFERRED [] -xref: OMIM:601495 {source="MONDO:equivalentTo", source="ORDO:33110/e", source="Orphanet:33110"} +xref: OMIM:601495 {source="Orphanet:33110/e", source="MONDO:equivalentTo", source="Orphanet:33110"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:601495"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:601495"} xref: UMLS:C3152144 {source="OMIM:601495", source="MONDO:notFoundInDiseaseSubset"} @@ -393814,7 +393651,7 @@ synonym: "Sym1" RELATED [OMIM:185800] synonym: "SYM1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185800] synonym: "symphalangism, proximal, 1A" RELATED [MONDO:Lexical, OMIM:185800] synonym: "symphalangism, proximal, type 1A" RELATED [MONDORULE:4, OMIM:185800] -xref: OMIM:185800 {source="DOID:0050788", source="MONDO:equivalentTo", source="ORDO:3250/e", source="Orphanet:3250"} +xref: OMIM:185800 {source="Orphanet:3250/e", source="DOID:0050788", source="MONDO:equivalentTo", source="Orphanet:3250"} xref: Orphanet:3250 {source="MONDO:subClassOf", source="OMIM:185800"} xref: UMLS:C3714899 {source="OMIM:185800", source="MONDO:equivalentTo"} is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism @@ -393830,7 +393667,7 @@ name: obsolete erythrocyte AMP deaminase deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none synonym: "AMP deaminase deficiency, erythrocytic" EXACT [OMIM:612874, OMIM:genemap2] synonym: "erythrocyte AMP deaminase deficiency" EXACT [OMIM:612874] -xref: OMIM:612874 {source="Orphanet:45", source="ORDO:45/e", source="MONDO:obsoleteEquivalent"} +xref: OMIM:612874 {source="Orphanet:45", source="MONDO:obsoleteEquivalent", source="Orphanet:45/e"} xref: Orphanet:45 {source="MONDO:subClassOf", source="OMIM:612874"} xref: UMLS:C2752073 {source="MONDO:obsoleteEquivalent", source="OMIM:612874", source="NCBI:mim2gene_medline"} relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3637 @@ -393849,7 +393686,7 @@ synonym: "AIMAH1" RELATED ABBREVIATION [MESH:C565662, MONDO:Lexical, OMIM:219080 synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080] synonym: "Cushing syndrome, adrenal, due to AIMAH" RELATED [MESH:C565662, OMIM:219080] xref: DOID:0111623 {source="MONDO:equivalentTo"} -xref: OMIM:219080 {source="MONDO:equivalentTo", source="Orphanet:189427", source="ORDO:189427/e", source="GARD:0010824"} +xref: OMIM:219080 {source="MONDO:equivalentTo", source="Orphanet:189427", source="GARD:0010824", source="Orphanet:189427/e"} xref: Orphanet:189427 {source="MONDO:subClassOf", source="OMIM:219080", source="GARD:0010824"} xref: UMLS:C1857451 {source="MONDO:subClassOf", source="OMIM:219080", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0009049 {source="MONDO:prototype"} ! Cushing syndrome due to macronodular adrenal hyperplasia @@ -393865,9 +393702,9 @@ synonym: "pili trianguli Et canaliculi" RELATED [OMIM:191480] synonym: "UHS1" RELATED ABBREVIATION [OMIM:191480] synonym: "uncombable hair syndrome" RELATED [OMIM:191480] synonym: "uncombable hair syndrome 1" EXACT [OMIM:191480] -xref: OMIM:191480 {source="ORDO:1410/e", source="Orphanet:1410", source="MONDO:equivalentTo"} +xref: OMIM:191480 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"} xref: Orphanet:1410 {source="MONDO:subClassOf", source="OMIM:191480"} -xref: UMLS:C0432347 {source="MONDO:subClassOf", source="ORDO:1410/e", source="NCBI:mim2gene_medline", source="Orphanet:1410", source="OMIM:191480"} +xref: UMLS:C0432347 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="Orphanet:1410", source="OMIM:191480", source="Orphanet:1410/e"} is_a: MONDO:0008621 {source="MONDO:prototype"} ! uncombable hair syndrome intersection_of: MONDO:0008621 ! uncombable hair syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18337 ! PADI3 @@ -393893,9 +393730,9 @@ name: multiple benign circumferential skin creases on limbs 1 synonym: "CSCSC1" RELATED ABBREVIATION [OMIM:156610] synonym: "skin creases, congenital symmetric circumferential, 1" RELATED [OMIM:156610] synonym: "symmetric circumferential skin creases, congenital, 1" EXACT [OMIM:156610, OMIM:genemap2] -xref: OMIM:156610 {source="MONDO:equivalentTo", source="ORDO:2505/e", source="Orphanet:2505"} +xref: OMIM:156610 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} xref: Orphanet:2505 {source="MONDO:subClassOf", source="OMIM:156610"} -xref: UMLS:C0473586 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="ORDO:2505/e", source="OMIM:156610", source="Orphanet:2505"} +xref: UMLS:C0473586 {source="MONDO:subClassOf", source="Orphanet:2505/e", source="NCBI:mim2gene_medline", source="OMIM:156610", source="Orphanet:2505"} is_a: MONDO:0007990 {source="MONDO:prototype"} ! multiple benign circumferential skin creases on limbs intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20778 ! TUBB @@ -393908,7 +393745,7 @@ name: hypercalcemia, infantile, 1 synonym: "autosomal recessive infantile hypercalcemia 1" EXACT CLINGEN_PREFERRED [] synonym: "HCINF1" EXACT ABBREVIATION [OMIM:143880] synonym: "hypercalcemia, infantile, 1" EXACT [OMIM:143880] -xref: OMIM:143880 {source="MONDO:equivalentTo", source="Orphanet:300547", source="ORDO:300547/e"} +xref: OMIM:143880 {source="MONDO:equivalentTo", source="Orphanet:300547", source="Orphanet:300547/e"} xref: Orphanet:300547 {source="MONDO:subClassOf", source="OMIM:143880"} xref: UMLS:C0268080 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:143880"} is_a: MONDO:0000212 {source="DC-OMIM:143880", source="MONDO:Redundant", source="MONDO:prototype", source="OMIM:143880", source="linkedlifedata"} ! hypercalcemia, infantile @@ -393925,7 +393762,7 @@ synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED synonym: "EDA-Id" BROAD [OMIM:300291] synonym: "EDAID1" EXACT ABBREVIATION [OMIM:300291] synonym: "HED-Id" BROAD [OMIM:300291] -xref: OMIM:300291 {source="ORDO:98813/e", source="MONDO:equivalentTo", source="Orphanet:98813"} +xref: OMIM:300291 {source="MONDO:equivalentTo", source="Orphanet:98813", source="Orphanet:98813/e"} xref: Orphanet:238468 {source="MONDO:subClassOf", source="OMIM:300291"} xref: Orphanet:98813 {source="MONDO:subClassOf", source="OMIM:300291"} xref: UMLS:C1846006 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="Orphanet:98813", source="NCIT:C118844", source="OMIM:300291"} @@ -393946,9 +393783,9 @@ synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100] synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100] synonym: "pyridoxine-dependent epilepsy" RELATED [OMIM:266100] synonym: "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" EXACT CLINGEN_PREFERRED [] -xref: OMIM:266100 {source="Orphanet:3006", source="ORDO:3006/e", source="MONDO:equivalentTo"} +xref: OMIM:266100 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"} xref: Orphanet:3006 {source="MONDO:subClassOf", source="OMIM:266100"} -xref: UMLS:C1849508 {source="MONDO:subClassOf", source="Orphanet:3006", source="NCBI:mim2gene_medline", source="ORDO:3006/e", source="OMIM:266100"} +xref: UMLS:C1849508 {source="MONDO:subClassOf", source="Orphanet:3006", source="NCBI:mim2gene_medline", source="OMIM:266100", source="Orphanet:3006/e"} is_a: MONDO:0009945 {source="MONDO:prototype"} ! pyridoxine-dependent epilepsy intersection_of: MONDO:0009945 ! pyridoxine-dependent epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/877 ! ALDH7A1 @@ -395002,7 +394839,7 @@ name: distal arthrogryposis type 2B1 synonym: "arthrogryposis, distal, type 2B1" EXACT [OMIM:601680, OMIM:genemap2] synonym: "DA2B1" EXACT ABBREVIATION [DOID:0111600] xref: DOID:0111600 {source="MONDO:equivalentTo"} -xref: OMIM:601680 {source="DOID:0111600", source="Orphanet:1147", source="ORDO:1147/e", source="MONDO:equivalentTo"} +xref: OMIM:601680 {source="DOID:0111600", source="Orphanet:1147", source="MONDO:equivalentTo", source="Orphanet:1147/e"} is_a: MONDO:0000426 {source="DOID:0111600"} ! autosomal dominant disease is_a: MONDO:0011128 {source="DOID:0111600"} ! Sheldon-hall syndrome relationship: has_modifier HP:0000006 {source="DOID:0111600"} ! Autosomal dominant inheritance @@ -395758,11 +395595,11 @@ def: "A rare developmental disorder characterized by facial, limbs and genital f synonym: "Aarskog syndrome" NARROW [] synonym: "Aarskog-Scott syndrome" NARROW [] synonym: "faciogenital dysplasia" RELATED [] -xref: ICD10CM:Q87.1 {source="ORDO:915/ntbt", source="ORDO:915/inclusion"} -xref: MedDRA:10067148 {source="ORDO:915/e"} -xref: OMIM:100050 {source="ORDO:915/btnt", source="MONDO:superClassOf"} -xref: OMIM:305400 {source="MONDO:superClassOf", source="ORDO:915/e"} -xref: UMLS:C0175701 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:915/e"} +xref: ICD10CM:Q87.1 {source="Orphanet:915/inclusion", source="Orphanet:915/ntbt"} +xref: MedDRA:10067148 {source="Orphanet:915/e"} +xref: OMIM:100050 {source="MONDO:superClassOf", source="Orphanet:915/btnt"} +xref: OMIM:305400 {source="MONDO:superClassOf", source="Orphanet:915/e"} +xref: UMLS:C0175701 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:915/e"} is_a: MONDO:0015620 {source="Orphanet:915-abstracted"} ! syndromic urogenital tract malformation [Term] @@ -395914,9 +395751,9 @@ synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [OMIM:6035 synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical, OMIM:603511] xref: DOID:0110305 {source="MONDO:equivalentTo"} xref: GARD:0012528 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="DOID:0110305", source="Orphanet:34516", source="Orphanet:34517", source="ORDO:34516/attributed", source="ORDO:34516/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:34516/attributed", source="Orphanet:34516/ntbt", source="DOID:0110305", source="Orphanet:34516", source="Orphanet:34517"} xref: MESH:C566370 {source="MONDO:equivalentTo"} -xref: OMIM:603511 {source="ORDO:34516/e", source="Orphanet:34516", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} +xref: OMIM:603511 {source="Orphanet:34516", source="MONDO:equivalentTo", source="Orphanet:34516/e", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:34516 {source="DOID:0110305", source="MONDO:equivalentTo"} xref: UMLS:C3148763 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C3501858 {source="Orphanet:34516", source="MONDO:equivalentTo"} @@ -395942,14 +395779,14 @@ synonym: "ocular albinism, type I, Nettleship-Falls type" EXACT [OMIM:300500, OM synonym: "X-linked ocular albinism" RELATED [GARD:0008471] synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] xref: GARD:0008471 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="ORDO:54/attributed", source="ORDO:54/ntbt"} +xref: ICD10CM:E70.3 {source="MONDO:subClassOf", source="Orphanet:54/attributed", source="Orphanet:54/ntbt"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="i2s"} -xref: MESH:C537863 {source="Orphanet:54", source="ORDO:54/e", source="MONDO:equivalentTo"} +xref: MESH:C537863 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"} xref: NCIT:C118785 {source="MONDO:equivalentTo"} -xref: OMIM:300500 {source="Orphanet:54", source="ORDO:54/e", source="MONDO:equivalentTo"} +xref: OMIM:300500 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"} xref: Orphanet:54 {source="MONDO:equivalentTo", source="OMIM:300500"} xref: SCTID:78642008 {source="MONDO:equivalentTo"} -xref: UMLS:C0342684 {source="Orphanet:54", source="ORDO:54/e", source="NCBI:mim2gene_medline", source="NCIT:C118785", source="MONDO:equivalentTo", source="OMIM:300500"} +xref: UMLS:C0342684 {source="Orphanet:54", source="NCBI:mim2gene_medline", source="NCIT:C118785", source="MONDO:equivalentTo", source="Orphanet:54/e", source="OMIM:300500"} is_a: MONDO:0017304 {source="MESH:C537863", source="MONDO:Redundant", source="Orphanet:54", source="linkedlifedata"} ! ocular albinism is_a: MONDO:0043209 {source="MESH:C537863/inferred", source="NCIT:C118785", source="indirect", source="linkedlifedata/inferred"} ! albinism intersection_of: MONDO:0017304 ! ocular albinism @@ -395972,14 +395809,14 @@ synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [Orphanet:792 synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800] synonym: "UGT deficiency type 1" EXACT [Orphanet:79234] xref: GARD:0000047 {source="MONDO:equivalentTo"} -xref: ICD10CM:E80.5 {source="MONDO:subClassOf", source="ORDO:79234/attributed", source="ORDO:79234/ntbt", source="Orphanet:205", source="DOID:3803", source="Orphanet:79234"} -xref: MedDRA:10057034 {source="ORDO:79234/e", source="Orphanet:79234"} -xref: MESH:C536212 {source="ORDO:79234/e", source="Orphanet:79234"} -xref: OMIM:218800 {source="Orphanet:205", source="MONDO:equivalentTo", source="DOID:3803", source="ORDO:79234/e", source="Orphanet:79234"} +xref: ICD10CM:E80.5 {source="MONDO:subClassOf", source="Orphanet:205", source="Orphanet:79234/attributed", source="Orphanet:79234/ntbt", source="DOID:3803", source="Orphanet:79234"} +xref: MedDRA:10057034 {source="Orphanet:79234/e", source="Orphanet:79234"} +xref: MESH:C536212 {source="Orphanet:79234/e", source="Orphanet:79234"} +xref: OMIM:218800 {source="Orphanet:205", source="Orphanet:79234/e", source="MONDO:equivalentTo", source="DOID:3803", source="Orphanet:79234"} xref: Orphanet:79234 {source="MONDO:equivalentTo", source="OMIM:218800"} xref: SCTID:8933000 {source="MONDO:equivalentTo"} xref: UMLS:C0010324 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} -xref: UMLS:C2931131 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79234/e", source="Orphanet:79234"} +xref: UMLS:C2931131 {source="Orphanet:79234/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79234"} is_a: MONDO:0002408 {source="MONDO:0021020/inferred", source="MONDO:Redundant", source="OMIM:218800", source="indirect"} ! hereditary hyperbilirubinemia is_a: MONDO:0009044 {source="Orphanet:79234", source="linkedlifedata"} ! Crigler-Najjar syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12530 {source="mim2gene_medgen"} ! UGT1A1 @@ -396016,10 +395853,10 @@ synonym: "startle disease" EXACT [DOID:0060695] synonym: "Stiff baby syndrome" EXACT [Orphanet:3197] xref: DOID:0060695 {source="MONDO:equivalentTo"} xref: GARD:0003129 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G25.8 {source="DOID:0060695", source="Orphanet:306773", source="ORDO:3197/attributed", source="ORDO:3197/ntbt", source="Orphanet:3197"} -xref: OMIM:149400 {source="MONDO:superClassOf", source="ORDO:3197/e", source="Orphanet:3197"} -xref: OMIM:614618 {source="MONDO:superClassOf", source="ORDO:3197/btnt", source="Orphanet:3197"} -xref: OMIM:614619 {source="MONDO:superClassOf", source="ORDO:3197/btnt", source="Orphanet:3197"} +xref: ICD10CM:G25.8 {source="DOID:0060695", source="Orphanet:3197/attributed", source="Orphanet:3197/ntbt", source="Orphanet:306773", source="Orphanet:3197"} +xref: OMIM:149400 {source="Orphanet:3197/e", source="MONDO:superClassOf", source="Orphanet:3197"} +xref: OMIM:614618 {source="Orphanet:3197/btnt", source="MONDO:superClassOf", source="Orphanet:3197"} +xref: OMIM:614619 {source="Orphanet:3197/btnt", source="MONDO:superClassOf", source="Orphanet:3197"} xref: OMIMPS:149400 {source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="DOID:0060695", source="MONDO:equivalentTo"} xref: SCTID:724351008 {source="MONDO:equivalentTo"} @@ -396043,10 +395880,10 @@ synonym: "androgen insensitivity syndrome, complete" RELATED [GARD:0010597] synonym: "CAIS" EXACT ABBREVIATION [Orphanet:99429] synonym: "complete androgen resistance syndrome" EXACT [Orphanet:99429] xref: GARD:0010597 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.5 {source="ORDO:99429/attributed", source="ORDO:99429/ntbt"} +xref: ICD10CM:E34.5 {source="Orphanet:99429/attributed", source="Orphanet:99429/ntbt"} xref: ICD10CM:E34.51 {source="MONDO:equivalentTo"} xref: NCIT:C120191 {source="MONDO:equivalentTo"} -xref: OMIM:300068 {source="MONDO:subClassOf", source="ORDO:99429/e"} +xref: OMIM:300068 {source="MONDO:subClassOf", source="Orphanet:99429/e"} xref: Orphanet:99429 {source="MONDO:equivalentTo", source="OMIM:300068"} xref: SCTID:368851000119102 {source="MONDO:equivalentTo"} xref: UMLS:C0936016 {source="NCIT:C120191", source="GARD:0010597", source="MONDO:notFoundInDiseaseSubset"} @@ -396062,7 +395899,6 @@ synonym: "malaria, cerebral, reduced risk of" EXACT [OMIM:611162, OMIM:genemap2] synonym: "malaria, cerebral, resistance to" EXACT [OMIM:611162] synonym: "malaria, cerebral, susceptibility to" EXACT [OMIM:611162] synonym: "malaria, protection against" EXACT [OMIM:611162, OMIM:genemap2] -synonym: "malaria, resistance to" EXACT [OMIM:611162] synonym: "malaria, resistance to" EXACT [OMIM:611162, OMIM:genemap2] synonym: "malaria, Severe, resistance to" EXACT [OMIM:611162] synonym: "malaria, Severe, susceptibility to" EXACT [OMIM:611162] @@ -396515,12 +396351,12 @@ synonym: "sarcoma of the bone" EXACT [NCIT:C9312] synonym: "skeletal sarcoma" EXACT [NCIT:C9312] xref: DOID:0080639 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10006007 {source="Orphanet:223727", source="ORDO:223727/e"} +xref: MedDRA:10006007 {source="Orphanet:223727/e", source="Orphanet:223727"} xref: NCIT:C9312 {source="MONDO:equivalentTo"} xref: Orphanet:223727 {source="MONDO:equivalentTo"} xref: SCTID:448710000 {source="MONDO:equivalentTo"} xref: UMLS:C0029463 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:223727"} -xref: UMLS:C1704327 {source="NCIT:C9312", source="MONDO:equivalentTo", source="Orphanet:223727", source="ORDO:223727/e"} +xref: UMLS:C1704327 {source="Orphanet:223727/e", source="NCIT:C9312", source="MONDO:equivalentTo", source="Orphanet:223727"} is_a: MONDO:0002129 {source="MONDO:Redundant", source="NCIT:C9312", source="linkedlifedata"} ! bone cancer is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C9312", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma is_a: MONDO:0019060 {source="NCIT:C9312/inferred", source="Orphanet:223727", source="indirect"} ! bone neoplasm @@ -396553,12 +396389,12 @@ synonym: "hereditary polyposis coli" RELATED [GARD:0006408] synonym: "polyposis coli" EXACT [NCIT:C3339] xref: DOID:0050424 {source="MONDO:equivalentTo"} xref: GARD:0006408 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:D12.6 {source="Orphanet:733", source="ORDO:733/attributed", source="ORDO:733/ntbt"} +xref: ICD10CM:D12.6 {source="Orphanet:733", source="Orphanet:733/attributed", source="Orphanet:733/ntbt"} xref: ICDO:8220/0 {source="NCIT:C3339"} -xref: MedDRA:10056981 {source="ORDO:733/e", source="Orphanet:733"} -xref: MESH:D011125 {source="ORDO:733/e", source="Orphanet:733", source="DOID:0050424"} +xref: MedDRA:10056981 {source="Orphanet:733", source="Orphanet:733/e"} +xref: MESH:D011125 {source="Orphanet:733", source="DOID:0050424", source="Orphanet:733/e"} xref: NCIT:C3339 {source="MONDO:equivalentTo", source="DOID:0050424"} -xref: OMIM:175100 {source="ORDO:733/e", source="Orphanet:733", source="DOID:0050424", source="MONDO:superClassOf"} +xref: OMIM:175100 {source="Orphanet:733", source="DOID:0050424", source="MONDO:superClassOf", source="Orphanet:733/e"} xref: OMIM:608456 {source="DOID:0050424", source="MONDO:superClassOf"} xref: OMIMPS:175100 {source="MONDO:equivalentTo"} xref: Orphanet:733 {source="MONDO:equivalentTo"} @@ -396568,7 +396404,7 @@ xref: SCTID:269636003 {source="DOID:0050424"} xref: SCTID:423471004 {source="DOID:0050424"} xref: SCTID:70921007 {source="DOID:0050424"} xref: SCTID:72900001 {source="MONDO:equivalentTo", source="DOID:0050424"} -xref: UMLS:C0032580 {source="ORDO:733/e", source="Orphanet:733", source="MONDO:equivalentTo", source="DOID:0050424", source="NCIT:C3339"} +xref: UMLS:C0032580 {source="Orphanet:733", source="MONDO:equivalentTo", source="DOID:0050424", source="Orphanet:733/e", source="NCIT:C3339"} xref: UMLS:C2713442 {source="DOID:0050424", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2713443 {source="MONDO:subClassOf", source="DOID:0050424"} xref: UMLS:CN240755 {source="MONDO:equivalentTo"} @@ -396605,7 +396441,7 @@ xref: UMLS:C0162832 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:175100 xref: UMLS:C2673218 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:175100"} xref: UMLS:C2674616 {source="MONDO:subClassOf", source="OMIM:175100"} xref: UMLS:C2713442 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016362 {source="MONDO:Redundant", source="ORDO:220460/btnt"} ! attenuated familial adenomatous polyposis +is_a: MONDO:0016362 {source="MONDO:Redundant", source="Orphanet:220460/btnt"} ! attenuated familial adenomatous polyposis is_a: MONDO:0021055 {source="DC-OMIM:175100", source="OMIM:175100"} ! classic familial adenomatous polyposis intersection_of: MONDO:0016362 ! attenuated familial adenomatous polyposis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/583 ! APC @@ -396718,7 +396554,7 @@ is_a: MONDO:0042983 {source="MESH:D017253", source="NCIT:C6727", source="https:/ id: MONDO:0021062 name: obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary subset: ordo_disease {source="Orphanet:306539"} -xref: OMIM:173650 {source="ORDO:306539/e", source="MONDO:relatedTo", source="Orphanet:306539"} +xref: OMIM:173650 {source="MONDO:relatedTo", source="Orphanet:306539", source="Orphanet:306539/e"} xref: Orphanet:306539 {source="MONDO:obsoleteEquivalent"} xref: UMLS:CN203514 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -397581,11 +397417,11 @@ synonym: "paroxysmal sleep" EXACT [DOID:8986] xref: DOID:8986 {source="MONDO:equivalentTo"} xref: EFO:0000614 {source="DOID:8986", source="MONDO:superClassOf"} xref: ICD9:347.00 {source="MONDO:equivalentTo", source="i2s"} -xref: MESH:D009290 {source="DOID:8986", source="MONDO:equivalentTo", source="ORDO:2073/e", source="Orphanet:2073"} +xref: MESH:D009290 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"} xref: NCIT:C84489 {source="MONDO:equivalentTo"} xref: OMIMPS:161400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:60380001 {source="MONDO:equivalentTo"} -xref: UMLS:C0027404 {source="DOID:8986", source="MONDO:equivalentTo", source="ORDO:2073/e", source="Orphanet:2073", source="NCIT:C84489"} +xref: UMLS:C0027404 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073", source="NCIT:C84489"} is_a: MONDO:0003406 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489", source="linkedlifedata/inferred"} ! sleep-wake disorder relationship: has_modifier MONDO:0021152 {source="OMIMPS:161400"} ! inherited @@ -397964,7 +397800,7 @@ synonym: "simple microphthalmos" EXACT [DOID:10629] xref: DOID:10629 {source="MONDO:equivalentTo", source="EFO:0005569"} xref: EFO:0005569 {source="MONDO:equivalentTo"} xref: HP:0000568 {source="MONDO:otherHierarchy"} -xref: ICD10CM:Q11.2 {source="Orphanet:35612", source="ORDO:35612/specific", source="DOID:10629", source="ORDO:35612/e"} +xref: ICD10CM:Q11.2 {source="Orphanet:35612", source="Orphanet:35612/e", source="DOID:10629", source="Orphanet:35612/specific"} xref: ICD9:743.1 {source="EFO:0005569", source="DOID:10629"} xref: ICD9:743.10 {source="DOID:10629"} xref: ICD9:743.11 {source="MONDO:equivalentTo", source="DOID:10629", source="i2s"} @@ -397973,19 +397809,19 @@ xref: NCIT:C98989 {source="MONDO:equivalentTo", source="EFO:0005569", source="DO xref: OMIM:206900 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:300166 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:309801 {source="MONDO:superClassOf", source="DOID:10629"} -xref: OMIM:600165 {source="Orphanet:35612", source="MONDO:superClassOf", source="DOID:10629", source="ORDO:35612/btnt"} +xref: OMIM:600165 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:601186 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:607932 {source="MONDO:superClassOf", source="DOID:10629"} -xref: OMIM:609549 {source="Orphanet:35612", source="MONDO:superClassOf", source="DOID:10629", source="ORDO:35612/btnt"} +xref: OMIM:609549 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:610093 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:610125 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:611038 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:611040 {source="MONDO:superClassOf", source="DOID:10629"} -xref: OMIM:611897 {source="Orphanet:35612", source="MONDO:superClassOf", source="DOID:10629", source="ORDO:35612/btnt"} +xref: OMIM:611897 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:613094 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:613704 {source="MONDO:superClassOf", source="DOID:10629"} xref: OMIM:614402 {source="EFO:0005569", source="MONDO:superClassOf"} -xref: OMIM:615972 {source="Orphanet:35612", source="EFO:0005569", source="MONDO:superClassOf", source="DOID:10629", source="ORDO:35612/btnt"} +xref: OMIM:615972 {source="Orphanet:35612", source="Orphanet:35612/btnt", source="EFO:0005569", source="MONDO:superClassOf", source="DOID:10629"} xref: OMIMPS:600165 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="MONDO:superClassOf", source="DOID:10629"} xref: SCTID:156902006 {source="DOID:10629"} @@ -398164,7 +398000,6 @@ synonym: "genitourinary system disease or disorder" EXACT [MONDO:design_pattern, synonym: "syndrome of the genitourinary system" RELATED [] synonym: "urogenital disease" RELATED [] synonym: "urogenital disorder" RELATED [] -xref: ICD10CM:N00-N99 {source="MONDO:equivalentTo"} xref: ICD10CM:N00-N99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: SCTID:42030000 {source="MONDO:equivalentTo"} xref: UMLS:C0080276 {source="MONDO:equivalentTo"} @@ -404009,13 +403844,13 @@ synonym: "cataract, total congenital" RELATED [GARD:0001159] synonym: "cataract, total congenital with posterior sutural opacities in heterozygotes" RELATED [GARD:0001159] synonym: "CCT" RELATED ABBREVIATION [GARD:0001159] xref: GARD:0001159 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q12.0 {source="Orphanet:98994", source="ORDO:98994/attributed", source="ORDO:98994/ntbt"} -xref: MESH:C535341 {source="Orphanet:98994", source="ORDO:98994/e"} +xref: ICD10CM:Q12.0 {source="Orphanet:98994", source="Orphanet:98994/attributed", source="Orphanet:98994/ntbt"} +xref: MESH:C535341 {source="Orphanet:98994", source="Orphanet:98994/e"} xref: OMIM:601547 {source="Orphanet:98994", source="MONDO:relatedTo", source="MONDO:superClassOf"} -xref: OMIM:616509 {source="Orphanet:98994", source="MONDO:superClassOf", source="ORDO:98994/btnt", source="MONDO:directSiblingOf"} +xref: OMIM:616509 {source="Orphanet:98994", source="Orphanet:98994/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:116700"} xref: Orphanet:98994 {source="MONDO:equivalentTo"} -xref: UMLS:C0266539 {source="Orphanet:98994", source="MONDO:notFoundInDiseaseSubset", source="ORDO:98994/e"} +xref: UMLS:C0266539 {source="Orphanet:98994", source="Orphanet:98994/e", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0011060 {source="Orphanet:98994"} ! early-onset non-syndromic cataract [Term] @@ -404112,11 +403947,11 @@ synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [OMIM:181350] xref: DOID:0070247 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110301 {source="MONDO:equivalentTo"} xref: GARD:0010230 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="ORDO:264/inclusion", source="ORDO:264/ntbt", source="Orphanet:264", source="DOID:0110301"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:264/inclusion", source="Orphanet:264/ntbt", source="Orphanet:264", source="DOID:0110301"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C535898 {source="MONDO:equivalentTo"} xref: NCIT:C126745 {source="MONDO:equivalentTo"} -xref: OMIM:159001 {source="GARD:0010230", source="MONDO:equivalentTo", source="ORDO:264/e", source="Orphanet:264", source="DOID:0110301"} +xref: OMIM:159001 {source="GARD:0010230", source="Orphanet:264/e", source="MONDO:equivalentTo", source="Orphanet:264", source="DOID:0110301"} xref: OMIM:181350 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:261 {source="MONDO:subClassOf", source="OMIM:181350"} xref: Orphanet:264 {source="GARD:0010230", source="OMIM:159001", source="MONDO:equivalentTo", source="DOID:0110301"} @@ -404531,11 +404366,11 @@ synonym: "astroglioma" EXACT [DOID:3069, NCIT:C6958] synonym: "cerebral astrocytoma" EXACT EXCLUDE [DOID:3069] xref: DOID:3069 {source="MONDO:equivalentTo"} xref: EFO:0000272 {source="MONDO:equivalentTo"} -xref: MedDRA:10003571 {source="Orphanet:94", source="ORDO:94/e"} -xref: MESH:D001254 {source="DOID:3069", source="MONDO:superClassOf", source="Orphanet:94", source="ORDO:94/e"} +xref: MedDRA:10003571 {source="Orphanet:94/e", source="Orphanet:94"} +xref: MESH:D001254 {source="DOID:3069", source="Orphanet:94/e", source="MONDO:superClassOf", source="Orphanet:94"} xref: NCIT:C4951 {source="DOID:3069", source="MONDO:superClassOf"} xref: NCIT:C6958 {source="DOID:3069", source="MONDO:equivalentTo"} -xref: OMIM:137800 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:94", source="ORDO:94/ntbt"} +xref: OMIM:137800 {source="MONDO:relatedTo", source="MONDO:superClassOf", source="Orphanet:94/ntbt", source="Orphanet:94"} xref: Orphanet:94 {source="MONDO:equivalentTo"} xref: SCTID:189914005 {source="DOID:3069"} xref: SCTID:38713004 {source="DOID:3069"} @@ -404694,20 +404529,19 @@ synonym: "SPD" RELATED ABBREVIATION [GARD:0005087] synonym: "syndactyly type 2" EXACT [MONDO:0019683] synonym: "synpolydactyly" EXACT [NCIT:C75003, Orphanet:93403] xref: GARD:0005087 {source="MONDO:equivalentTo"} -xref: ICD10:Q70.0 {source="ORDO:93403/nd", source="ORDO:93403/attributed", source="Orphanet:93403"} -xref: ICD10:Q70.2 {source="ORDO:93403/nd", source="ORDO:93403/attributed", source="Orphanet:93403"} -xref: MESH:C538153 {source="MONDO:equivalentTo", source="ORDO:93403/e", source="Orphanet:93403"} +xref: ICD10:Q70.0 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"} +xref: ICD10:Q70.2 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"} +xref: MESH:C538153 {source="MONDO:equivalentTo", source="Orphanet:93403", source="Orphanet:93403/e"} xref: NCIT:C125597 {source="MONDO:relatedTo"} xref: NCIT:C75003 {source="MONDO:equivalentTo"} -xref: OMIM:186000 {source="ORDO:93403/btnt", source="MONDO:superClassOf", source="Orphanet:93403", source="GARD:0005087"} -xref: OMIM:608180 {source="ORDO:93403/btnt", source="MONDO:superClassOf", source="Orphanet:93403"} -xref: OMIM:610234 {source="ORDO:93403/btnt", source="MONDO:superClassOf", source="Orphanet:93403"} +xref: OMIM:186000 {source="MONDO:superClassOf", source="Orphanet:93403", source="GARD:0005087", source="Orphanet:93403/btnt"} +xref: OMIM:608180 {source="MONDO:superClassOf", source="Orphanet:93403", source="Orphanet:93403/btnt"} +xref: OMIM:610234 {source="MONDO:superClassOf", source="Orphanet:93403", source="Orphanet:93403/btnt"} xref: Orphanet:93403 {source="MONDO:equivalentTo", source="GARD:0005087"} xref: SCTID:715724002 {source="MONDO:equivalentTo"} xref: SCTID:84598000 {source="MONDO:equivalentTo"} xref: UMLS:C0265553 {source="MONDO:equivalentTo"} -xref: UMLS:C2699746 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:93403/e", source="Orphanet:93403"} -xref: UMLS:C2699746 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C75003"} +xref: UMLS:C2699746 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93403", source="NCIT:C75003", source="Orphanet:93403/e"} is_a: MONDO:0018454 {source="MONDO:0018455-obsoleted"} ! dysostosis of genetic origin intersection_of: MONDO:0018454 ! dysostosis of genetic origin intersection_of: disease_has_major_feature HP:0001159 ! Syndactyly @@ -404835,7 +404669,7 @@ subset: ordo_disease {source="Orphanet:397587"} synonym: "deep dermatophytosis" EXACT [MONDO:0018335] synonym: "deep seated dermatophytosis" EXACT [NCIT:C35073] synonym: "disseminated granulomatous dermatophytosis" EXACT [Orphanet:397587] -xref: ICD10CM:B35.8 {source="Orphanet:397587", source="ORDO:397587/ntbt"} +xref: ICD10CM:B35.8 {source="Orphanet:397587/ntbt", source="Orphanet:397587"} xref: NCIT:C35073 {source="MONDO:equivalentTo"} xref: Orphanet:397587 {source="MONDO:equivalentTo"} xref: UMLS:C1395264 {source="NCIT:C35073", source="MONDO:equivalentTo"} @@ -404904,10 +404738,10 @@ id: MONDO:0021664 name: cervical aortic arch comment: Editor note: consider merging with MONDO:0017991 synonym: "aortic arch syndrome" EXACT [DOID:2508, Orphanet:99079] -xref: ICD10CM:Q25.4 {source="ORDO:99079/ntbt", source="Orphanet:99079"} +xref: ICD10CM:Q25.4 {source="Orphanet:99079/ntbt", source="Orphanet:99079"} xref: Orphanet:99079 {source="MONDO:equivalentTo"} xref: UMLS:C0003490 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99079"} -xref: UMLS:C0345065 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:99079/e", source="Orphanet:99079"} +xref: UMLS:C0345065 {source="Orphanet:99079/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99079"} is_a: MONDO:0015236 {source="Orphanet:99079"} ! aortic arch defects relationship: disease_has_location UBERON:0004363 ! pharyngeal arch artery @@ -405093,7 +404927,6 @@ synonym: "VD, venereal disease" EXACT [NCIT:C3365] synonym: "venereal disease" RELATED [MESH:D012749] synonym: "venereal disease (VD)" EXACT [NCIT:C3365] synonym: "venereal diseases" RELATED [MESH:D012749] -xref: ICD10CM:A50-A64 {source="MONDO:equivalentTo"} xref: ICD10CM:A50-A64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:099.8 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:099.9 {source="MONDO:equivalentTo", source="i2s"} @@ -406902,7 +406735,7 @@ synonym: "partial monosomy 12p" RELATED [GARD:0006068] synonym: "partial monosomy of chromosome 12p" EXACT [Orphanet:316244] synonym: "partial monosomy of the short arm of chromosome 12" EXACT [Orphanet:316244] xref: GARD:0006068 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:316244/attributed", source="ORDO:316244/ntbt", source="Orphanet:316244"} +xref: ICD10CM:Q93.5 {source="Orphanet:316244/attributed", source="Orphanet:316244/ntbt", source="Orphanet:316244"} xref: MESH:C538301 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C538302 {source="MONDO:equivalentTo"} xref: NCIT:C36410 {source="MONDO:equivalentTo"} @@ -408921,7 +408754,7 @@ synonym: "partial monosomy of chromosome 17p" EXACT [Orphanet:261965] synonym: "partial monosomy of the short arm of chromosome 17" EXACT [MONDO:0016895] synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261965] xref: GARD:0006075 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:261965", source="ORDO:261965/attributed", source="ORDO:261965/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:261965/attributed", source="Orphanet:261965/ntbt", source="Orphanet:261965"} xref: MESH:C538045 {source="MONDO:equivalentTo"} xref: NCIT:C36499 {source="MONDO:equivalentTo"} xref: Orphanet:261965 {source="MONDO:equivalentTo"} @@ -408969,7 +408802,7 @@ synonym: "partial monosomy 1q" RELATED [GARD:0008669] synonym: "partial monosomy of chromosome 1q" EXACT [Orphanet:262001] synonym: "partial monosomy of the long arm of chromosome 1" EXACT [Orphanet:262001] xref: GARD:0008669 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="Orphanet:262001", source="ORDO:262001/attributed", source="ORDO:262001/ntbt"} +xref: ICD10CM:Q93.5 {source="Orphanet:262001/attributed", source="Orphanet:262001/ntbt", source="Orphanet:262001"} xref: Orphanet:262001 {source="MONDO:equivalentTo"} xref: UMLS:CN072190 {source="MONDO:equivalentTo"} is_a: MONDO:0016866 {source="Orphanet:262001"} ! partial deletion of chromosome 1 @@ -409042,7 +408875,7 @@ synonym: "partial monosomy 22q" EXACT [GARD:0008668] synonym: "partial monosomy of chromosome 22q" EXACT [Orphanet:262182] synonym: "partial monosomy of the long arm of chromosome 22" EXACT [Orphanet:262182] xref: GARD:0008668 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.5 {source="ORDO:262182/attributed", source="ORDO:262182/ntbt", source="Orphanet:262182"} +xref: ICD10CM:Q93.5 {source="Orphanet:262182/attributed", source="Orphanet:262182/ntbt", source="Orphanet:262182"} xref: Orphanet:262182 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 ! chromosomal disorder intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion @@ -409076,7 +408909,7 @@ synonym: "partial monosomy 4p" EXACT [GARD:0006090] synonym: "partial monosomy of chromosome 4p" EXACT [Orphanet:261884] synonym: "partial monosomy of the short arm of chromosome 4" EXACT [Orphanet:261884] xref: GARD:0006090 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q93.3 {source="MONDO:equivalentTo", source="Orphanet:261884", source="ORDO:261884/e", source="ORDO:261884/specific"} +xref: ICD10CM:Q93.3 {source="MONDO:equivalentTo", source="Orphanet:261884/specific", source="Orphanet:261884", source="Orphanet:261884/e"} xref: MESH:C537637 {source="MONDO:equivalentTo"} xref: Orphanet:261884 {source="MONDO:equivalentTo"} is_a: MONDO:0016869 {source="Orphanet:261884"} ! partial deletion of chromosome 4 @@ -411108,9 +410941,9 @@ synonym: "prostate cancer, susceptibility to, autosomal dominant, somatic mutati xref: GARD:0004520 {source="MONDO:equivalentTo"} xref: GTR:AN0101368 {source="UMLS:CN036094"} xref: GTR:AN0101369 {source="UMLS:CN036094"} -xref: MESH:C537243 {source="ORDO:1331/e", source="Orphanet:1331"} +xref: MESH:C537243 {source="Orphanet:1331", source="Orphanet:1331/e"} xref: NCIT:C103817 {source="MONDO:equivalentTo"} -xref: OMIM:176807 {source="Orphanet:1331", source="MONDO:equivalentTo", source="DOID:10283", source="ORDO:1331/ntbt"} +xref: OMIM:176807 {source="Orphanet:1331/ntbt", source="Orphanet:1331", source="MONDO:equivalentTo", source="DOID:10283"} xref: OMIM:601518 {source="GARD:0004520", source="MONDO:superClassOf"} xref: Orphanet:1331 {source="MONDO:subClassOf", source="GARD:0004520", source="MONDO:equivalentTo", source="OMIM:176807", source="DOID:10283"} xref: SCTID:715412008 {source="MONDO:equivalentTo"} @@ -414223,7 +414056,7 @@ xref: OMIM:201300 {source="DOID:0070155", source="MONDO:equivalentTo"} xref: Orphanet:970 {source="MONDO:subClassOf", source="OMIM:201300"} xref: UMLS:C0751540 {source="MONDO:relatedTo", source="MedGen:148334"} xref: UMLS:C2752089 {source="NCBI:mim2gene_medline", source="OMIM:201300", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019941 {source="DOID:0070155", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 +is_a: MONDO:0019941 {source="DOID:0070155", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 relationship: disease_shares_features_of MONDO:0008718 {source="PMID:13235976"} ! Morvan syndrome relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -415328,12 +415161,12 @@ synonym: "Seitelberger disease" BROAD DEPRECATED [DOID:0110735, OMIM:256600, Orp xref: DOID:0110735 {source="MONDO:equivalentTo"} xref: GARD:0002751 {source="MONDO:equivalentTo"} xref: GARD:0003957 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet-shared"} -xref: ICD10CM:G23.0 {source="ORDO:35069/attributed", source="ORDO:35069/ntbt", source="Orphanet:35069"} +xref: ICD10CM:G23.0 {source="Orphanet:35069/attributed", source="Orphanet:35069/ntbt", source="Orphanet:35069"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C536071 {source="MONDO:equivalentTo"} xref: NCIT:C84927 {source="MONDO:equivalentTo"} xref: OMIM:256600 {source="GARD:0002751", source="DOID:0110735", source="MONDO:equivalentTo", source="Orphanet:35069"} -xref: OMIM:610217 {source="ORDO:35069/btnt", source="MONDO:superClassOf", source="Orphanet:35069"} +xref: OMIM:610217 {source="MONDO:superClassOf", source="Orphanet:35069/btnt", source="Orphanet:35069"} xref: Orphanet:2174 {source="MONDO:obsolete"} xref: Orphanet:35069 {source="MONDO:relatedTo", source="MONDO:equivalentTo", source="OMIM:256600"} xref: SCTID:52713000 {source="MONDO:equivalentTo"} @@ -415577,10 +415410,10 @@ synonym: "South African tick-bite fever" EXACT [DOID:14095] synonym: "tick typhus due to rickettsia conorii" EXACT [PMID:18760001] xref: DOID:14095 {source="MONDO:equivalentTo", source="EFO:0007179"} xref: EFO:0007179 {source="MONDO:equivalentTo"} -xref: ICD10CM:A77.1 {source="DOID:14095", source="Orphanet:101334", source="Orphanet:83313", source="ORDO:101334/ntbt", source="ORDO:83313/ntbt"} +xref: ICD10CM:A77.1 {source="Orphanet:101334/ntbt", source="DOID:14095", source="Orphanet:101334", source="Orphanet:83313", source="Orphanet:83313/ntbt"} xref: ICD9:082.1 {source="DOID:14095"} -xref: MedDRA:10006045 {source="ORDO:83313/e", source="Orphanet:83313"} -xref: MESH:D001907 {source="ORDO:83313/e", source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313", source="EFO:0007179"} +xref: MedDRA:10006045 {source="Orphanet:83313", source="Orphanet:83313/e"} +xref: MESH:D001907 {source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313", source="Orphanet:83313/e", source="EFO:0007179"} xref: Orphanet:101334 {source="MONDO:equivalentTo"} xref: Orphanet:83313 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:186774005 {source="DOID:14095", source="MONDO:equivalentTo"} @@ -415589,7 +415422,7 @@ xref: SCTID:186779000 {source="DOID:14095"} xref: SCTID:186780002 {source="DOID:14095"} xref: SCTID:414658000 {source="DOID:14095"} xref: SCTID:59742009 {source="DOID:14095"} -xref: UMLS:C0006060 {source="ORDO:83313/e", source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313"} +xref: UMLS:C0006060 {source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313", source="Orphanet:83313/e"} is_a: MONDO:0001195 {source="DOID:14095", source="MONDO:Redundant", source="Orphanet:101334", source="Orphanet:83313", source="indirect", source="linkedlifedata"} ! spotted fever is_a: MONDO:0005113 {source="DOID:14095/inferred", source="EFO:0007179", source="MESH:D001907/inferred", source="MONDO:Redundant", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0006956 {source="MESH:D001907", source="MONDO:Redundant", source="Orphanet:101334/inferred", source="Orphanet:83313/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! Rickettsiosis @@ -416362,7 +416195,7 @@ synonym: "tubular aggregate myopathy" RELATED [OMIM:160565] synonym: "tubular aggregate myopathy caused by mutation in STIM1" EXACT [MONDO:design_pattern] xref: OMIM:160565 {source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="MONDO:subClassOf", source="OMIM:160565"} -xref: UMLS:C0410207 {source="OMIM:160565", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2593", source="ORDO:2593/e"} +xref: UMLS:C0410207 {source="OMIM:160565", source="Orphanet:2593/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2593"} xref: UMLS:C4011726 {source="OMIM:160565", source="MONDO:equivalentTo"} is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:160565"} ! tubular aggregate myopathy intersection_of: MONDO:0008051 ! tubular aggregate myopathy @@ -416520,9 +416353,9 @@ xref: NCIT:C129973 {source="MONDO:equivalentTo"} xref: OMIM:213600 {source="MONDO:equivalentTo"} xref: OMIM:606656 {source="MONDO:equivalentObsolete"} xref: Orphanet:1980 {source="MONDO:subClassOf", source="OMIM:606656", source="OMIM:213600"} -xref: UMLS:C0393590 {source="ORDO:1980/e", source="Orphanet:1980", source="NCIT:C129973", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:213600", source="MONDO:preferredExternal"} +xref: UMLS:C0393590 {source="Orphanet:1980", source="NCIT:C129973", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:213600", source="MONDO:preferredExternal", source="Orphanet:1980/e"} xref: UMLS:C1847731 {source="OMIM:606656", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:213600", source="OMIM:606656", source="ORDO:1980/btnt"} ! bilateral striopallidodentate calcinosis +is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:213600", source="OMIM:606656", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis intersection_of: MONDO:0008947 ! bilateral striopallidodentate calcinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10947 ! SLC20A2 relationship: has_modifier MONDO:0700005 ! idiopathic @@ -416659,7 +416492,7 @@ synonym: "peroxisome biogenesis disorder 1C" RELATED [OMIM:234580] xref: DOID:0080623 {source="MONDO:obsoleteEquivalent"} xref: OMIM:234580 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3220 {source="MONDO:subClassOf", source="OMIM:234580"} -xref: UMLS:C1856186 {source="MONDO:subClassOf", source="OMIM:234580", source="NCBI:mim2gene_medline", source="Orphanet:3220", source="ORDO:3220/e"} +xref: UMLS:C1856186 {source="MONDO:subClassOf", source="OMIM:234580", source="Orphanet:3220/e", source="NCBI:mim2gene_medline", source="Orphanet:3220"} property_value: IAO:0000231 "out of scope" xsd:string property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3222 xsd:string is_obsolete: true @@ -416679,7 +416512,7 @@ xref: DOID:0070199 {source="MONDO:equivalentTo"} xref: GARD:0009676 {source="MONDO:equivalentTo"} xref: OMIM:254130 {source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="MONDO:subClassOf", source="OMIM:254130"} -xref: UMLS:C1850808 {source="ORDO:45448/e", source="Orphanet:45448", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:254130", source="NCIT:C118846"} +xref: UMLS:C1850808 {source="Orphanet:45448", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline", source="OMIM:254130", source="Orphanet:45448/e", source="NCIT:C118846"} is_a: MONDO:0009685 {source="MONDO:Redundant"} ! Miyoshi myopathy is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:254130", source="indirect"} ! distal myopathy intersection_of: MONDO:0009685 ! Miyoshi myopathy @@ -416751,8 +416584,8 @@ synonym: "PSS" RELATED ABBREVIATION [OMIM:270300] synonym: "PSS type B" EXACT [Orphanet:263553] synonym: "PSS1" RELATED ABBREVIATION [OMIM:270300] synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300] -xref: ICD10CM:Q80.8 {source="ORDO:263553/attributed", source="ORDO:263553/ntbt", source="Orphanet:263553"} -xref: OMIM:270300 {source="MONDO:equivalentTo", source="ORDO:263553/ntbt", source="Orphanet:263553"} +xref: ICD10CM:Q80.8 {source="Orphanet:263553", source="Orphanet:263553/attributed", source="Orphanet:263553/ntbt"} +xref: OMIM:270300 {source="MONDO:equivalentTo", source="Orphanet:263553", source="Orphanet:263553/ntbt"} xref: Orphanet:263543 {source="MONDO:subClassOf", source="OMIM:270300"} xref: Orphanet:263553 {source="MONDO:equivalentTo"} xref: UMLS:C1849193 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:270300"} @@ -416789,7 +416622,7 @@ synonym: "frontometaphyseal dysplasia caused by mutation in FLNA" EXACT [MONDO:d xref: DOID:0111786 {source="MONDO:equivalentTo"} xref: OMIM:305620 {source="MONDO:equivalentTo"} xref: Orphanet:1826 {source="MONDO:subClassOf", source="OMIM:305620"} -xref: UMLS:C0265293 {source="OMIM:305620", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1826", source="ORDO:1826/e"} +xref: UMLS:C0265293 {source="OMIM:305620", source="Orphanet:1826/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1826"} xref: UMLS:C4281559 {source="OMIM:305620", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015942 {source="MONDO:Redundant", source="OMIM:305620"} ! frontometaphyseal dysplasia intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia @@ -416844,7 +416677,7 @@ synonym: "microphthalmia, syndromic 7" RELATED [OMIM:309801] synonym: "Midas syndrome" RELATED [OMIM:309801] xref: OMIM:309801 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="MONDO:subClassOf", source="OMIM:309801"} -xref: UMLS:C0796070 {source="ORDO:2556/e", source="NCBI:mim2gene_medline", source="OMIM:309801", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2556"} +xref: UMLS:C0796070 {source="NCBI:mim2gene_medline", source="OMIM:309801", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2556", source="Orphanet:2556/e"} is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:309801"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4837 ! HCCS @@ -416865,7 +416698,7 @@ synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anemia" EXACT [MONDO xref: DOID:0111185 {source="MONDO:equivalentTo"} xref: OMIM:600462 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="MONDO:subClassOf", source="OMIM:600462"} -xref: UMLS:C1838103 {source="OMIM:600462", source="ORDO:2598/e", source="NCBI:mim2gene_medline", source="Orphanet:2598", source="MONDO:equivalentTo"} +xref: UMLS:C1838103 {source="OMIM:600462", source="NCBI:mim2gene_medline", source="Orphanet:2598", source="MONDO:equivalentTo", source="Orphanet:2598/e"} is_a: MONDO:0000863 {source="MONDO:0024553/inferred", source="MONDO:Redundant", source="OMIM:600462", source="indirect"} ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15508 ! PUS1 @@ -416904,7 +416737,7 @@ synonym: "VL" RELATED ABBREVIATION [OMIM:604004] xref: DOID:0080316 {source="MONDO:equivalentTo"} xref: OMIM:604004 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="MONDO:subClassOf", source="OMIM:604004"} -xref: UMLS:C1858854 {source="OMIM:604004", source="Orphanet:2478", source="NCBI:mim2gene_medline", source="ORDO:2478/e", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1858854 {source="OMIM:604004", source="Orphanet:2478", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2478/e"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:604004", source="indirect"} ! leukoencephalopathy, megalencephalic is_a: MONDO:0011391 ! megalencephalic leukoencephalopathy with subcortical cysts relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -417140,8 +416973,8 @@ synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:6154 synonym: "LARS infantile liver failure" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Lars infantile liver failure" EXACT [MONDO:design_pattern] xref: GARD:0013114 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:K72.0 {source="ORDO:370088/attributed", source="ORDO:370088/ntbt", source="Orphanet:370088"} -xref: OMIM:615438 {source="ORDO:370088/e", source="MONDO:equivalentTo", source="Orphanet:370088"} +xref: ICD10CM:K72.0 {source="Orphanet:370088", source="Orphanet:370088/attributed", source="Orphanet:370088/ntbt"} +xref: OMIM:615438 {source="MONDO:equivalentTo", source="Orphanet:370088", source="Orphanet:370088/e"} xref: Orphanet:370088 {source="MONDO:equivalentTo", source="OMIM:615438"} xref: UMLS:C3809522 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615438"} is_a: MONDO:0000001 {source="Orphanet:370088", source="indirect"} ! disease or disorder @@ -417819,8 +417652,7 @@ synonym: "ischemic heart diseases" RELATED [MESH:D017202] synonym: "myocardial Ischemias" RELATED [MESH:D017202] synonym: "myocardium ischemic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:1001375 {source="MONDO:equivalentTo"} -xref: ICD10CM:I20-I25 {source="MONDO:equivalentTo"} -xref: ICD10CM:I20-I25 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: ICD10CM:I20-I25 {source="MONDO:subClassOf", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D017202 {source="MONDO:equivalentTo"} xref: NCIT:C50625 {source="MONDO:equivalentTo"} xref: SCTID:414545008 {source="MONDO:equivalentTo"} @@ -418232,9 +418064,9 @@ xref: DOID:3892 {source="MONDO:equivalentTo", source="EFO:0000549"} xref: EFO:0000549 {source="MONDO:equivalentTo"} xref: GARD:0003010 {source="MONDO:equivalentTo"} xref: HP:0012197 {source="MONDO:otherHierarchy"} -xref: ICD10CM:E16.8 {source="Orphanet:97279", source="ORDO:97279/ntbt"} -xref: MedDRA:10022498 {source="Orphanet:97279", source="ORDO:97279/e"} -xref: MESH:D007340 {source="DOID:3892", source="Orphanet:97279", source="MONDO:equivalentTo", source="EFO:0000549", source="ORDO:97279/e"} +xref: ICD10CM:E16.8 {source="Orphanet:97279/ntbt", source="Orphanet:97279"} +xref: MedDRA:10022498 {source="Orphanet:97279", source="Orphanet:97279/e"} +xref: MESH:D007340 {source="DOID:3892", source="Orphanet:97279", source="MONDO:equivalentTo", source="Orphanet:97279/e", source="EFO:0000549"} xref: MESH:D007516 {source="DOID:3892"} xref: NCIT:C95598 {source="MONDO:equivalentTo"} xref: SCTID:302822000 {source="DOID:3892", source="MONDO:equivalentTo", source="EFO:0000549"} @@ -419401,7 +419233,7 @@ synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897] synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310] synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164310, Orphanet:98897] xref: GARD:0012592 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98897", source="ORDO:98897/attributed", source="ORDO:98897/ntbt"} +xref: ICD10CM:G71.0 {source="MONDO:subClassOf", source="Orphanet:98897", source="Orphanet:98897/attributed", source="Orphanet:98897/ntbt"} xref: MESH:C563508 {source="MONDO:equivalentTo"} xref: OMIMPS:164310 {source="MONDO:equivalentTo"} xref: Orphanet:98897 {source="MONDO:equivalentTo", source="OMIM:164310"} @@ -421103,7 +420935,6 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/64 id: MONDO:0029137 name: hearing loss, autosomal dominant 74 synonym: "deafness, autosomal dominant 74" NARROW [OMIM:618140, OMIM:genemap2] -synonym: "deafness, autosomal dominant 74" NARROW [OMIM:618140] synonym: "DFNA74" NARROW ABBREVIATION [OMIM:618140] xref: OMIM:618140 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss @@ -421144,7 +420975,6 @@ is_a: MONDO:0019501 {source="OMIM:618144"} ! Usher syndrome id: MONDO:0029142 name: hearing loss, autosomal recessive 111 synonym: "deafness, autosomal recessive 111" NARROW [OMIM:618145, OMIM:genemap2] -synonym: "deafness, autosomal recessive 111" NARROW [OMIM:618145] synonym: "DFNB111" NARROW ABBREVIATION [OMIM:618145] xref: DOID:0111640 {source="MONDO:equivalentTo"} xref: OMIM:618145 {source="MONDO:equivalentTo"} @@ -421504,7 +421334,6 @@ id: MONDO:0030042 name: proteinuria, chronic benign synonym: "PROCHOB" EXACT ABBREVIATION [OMIM:618884] synonym: "PROTEINURIA, CHRONIC BENIGN" EXACT [OMIM:618884] -synonym: "proteinuria, chronic benign" EXACT [OMIM:618884] synonym: "proteinuria, chronic benign" EXACT [OMIM:618884, OMIM:genemap2] xref: OMIM:618884 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! Mendelian disease @@ -421634,7 +421463,6 @@ is_a: MONDO:0003847 ! Mendelian disease id: MONDO:0030058 name: hearing loss, autosomal dominant 77 synonym: "deafness, autosomal dominant 77" NARROW [OMIM:618915, OMIM:genemap2] -synonym: "deafness, autosomal dominant 77" NARROW [OMIM:618915] synonym: "DFNA77" NARROW ABBREVIATION [OMIM:618915] xref: OMIM:618915 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss @@ -423364,7 +423192,6 @@ is_a: MONDO:0019312 {source="OMIM:619172"} ! Hermansky-Pudlak syndrome id: MONDO:0030905 name: hearing loss, autosomal recessive 117 synonym: "deafness, autosomal recessive 117" NARROW [OMIM:619174, OMIM:genemap2] -synonym: "deafness, autosomal recessive 117" NARROW [OMIM:619174] synonym: "DFNB117" NARROW ABBREVIATION [OMIM:619174] xref: OMIM:619174 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:619174"} ! hearing loss, autosomal recessive @@ -424051,7 +423878,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 [Term] id: MONDO:0030998 name: hearing loss, autosomal dominant 80 -synonym: "deafness, autosomal dominant 80" NARROW [OMIM:619274] synonym: "deafness, autosomal dominant 80" NARROW [OMIM:619274, OMIM:genemap2] synonym: "DFNA80" NARROW [OMIM:619274] xref: OMIM:619274 {source="MONDO:equivalentTo"} @@ -424200,10 +424026,10 @@ synonym: "hereditary brain cavernous hemangioma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernoma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernous malformation" EXACT [MONDO:patterns/hereditary, Orphanet:221061] synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860] -xref: ICD10CM:Q28.3 {source="ORDO:221061/attributed", source="ORDO:221061/ntbt", source="Orphanet:221061"} -xref: OMIM:116860 {source="MONDO:superClassOf", source="ORDO:221061/e", source="Orphanet:221061"} -xref: OMIM:603284 {source="ORDO:221061/btnt", source="MONDO:superClassOf", source="Orphanet:221061"} -xref: OMIM:603285 {source="ORDO:221061/btnt", source="MONDO:superClassOf", source="Orphanet:221061"} +xref: ICD10CM:Q28.3 {source="Orphanet:221061/attributed", source="Orphanet:221061/ntbt", source="Orphanet:221061"} +xref: OMIM:116860 {source="Orphanet:221061/e", source="MONDO:superClassOf", source="Orphanet:221061"} +xref: OMIM:603284 {source="MONDO:superClassOf", source="Orphanet:221061/btnt", source="Orphanet:221061"} +xref: OMIM:603285 {source="MONDO:superClassOf", source="Orphanet:221061/btnt", source="Orphanet:221061"} xref: OMIMPS:116860 {source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="OMIM:116860", source="MONDO:equivalentTo"} xref: SCTID:717003001 {source="MONDO:equivalentTo"} @@ -424227,7 +424053,7 @@ property_value: confidence "0.33333333333333326" xsd:double [Term] id: MONDO:0031169 name: odontochondrodysplasia -xref: OMIM:184260 {source="MONDO:superClassOf", source="ORDO:166272/e", source="Orphanet:166272"} +xref: OMIM:184260 {source="Orphanet:166272/e", source="MONDO:superClassOf", source="Orphanet:166272"} xref: OMIMPS:184260 {source="MONDO:equivalentTo"} is_a: MONDO:0016763 {source="Orphanet:166272"} ! spondylometaphyseal dysplasia relationship: has_modifier MONDO:0021152 {source="OMIMPS:184260"} ! inherited @@ -424291,10 +424117,10 @@ synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:2219, OMIM:273800 synonym: "Thrombocytasthenia" EXACT [DOID:2219] xref: DOID:2219 {source="MONDO:equivalentTo"} xref: GARD:0002478 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:D69.1 {source="ORDO:849/ntbt", source="Orphanet:849", source="DOID:2219", source="ORDO:849/inclusion"} +xref: ICD10CM:D69.1 {source="Orphanet:849/inclusion", source="Orphanet:849", source="DOID:2219", source="Orphanet:849/ntbt"} xref: MESH:D013915 {source="MONDO:equivalentTo", source="DOID:2219"} xref: NCIT:C61249 {source="MONDO:equivalentTo", source="DOID:2219"} -xref: OMIM:273800 {source="MONDO:equivalentTo", source="ORDO:849/e", source="Orphanet:849", source="DOID:2219"} +xref: OMIM:273800 {source="MONDO:equivalentTo", source="Orphanet:849", source="DOID:2219", source="Orphanet:849/e"} xref: Orphanet:849 {source="MONDO:subClassOf", source="OMIM:273800", source="DOID:2219"} xref: SCTID:191310008 {source="DOID:2219"} xref: SCTID:30577005 {source="DOID:2219"} @@ -424334,7 +424160,7 @@ subset: ordo_disease {source="Orphanet:238475"} synonym: "FHCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607748] synonym: "hereditary hypercholanemia" BROAD [Orphanet:238475] xref: MESH:C564336 {source="MONDO:equivalentTo"} -xref: OMIM:607748 {source="MONDO:equivalentTo", source="Orphanet:238475", source="ORDO:238475/e"} +xref: OMIM:607748 {source="Orphanet:238475/e", source="MONDO:equivalentTo", source="Orphanet:238475"} xref: Orphanet:238475 {source="OMIM:607748", source="MONDO:equivalentTo"} xref: SCTID:723360007 {source="MONDO:equivalentTo"} xref: UMLS:C1843139 {source="OMIM:607748", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:238475"} @@ -424348,7 +424174,7 @@ subset: ordo_disease {source="Orphanet:306558"} synonym: "MEDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614231] synonym: "microcephaly, epilepsy, and diabetes syndrome" BROAD [MONDO:Lexical, OMIM:614231, OMIM:genemap2] synonym: "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" EXACT [MONDO:0013647] -xref: OMIM:614231 {source="Orphanet:306558", source="ORDO:306558/e", source="MONDO:equivalentTo"} +xref: OMIM:614231 {source="Orphanet:306558", source="MONDO:equivalentTo", source="Orphanet:306558/e"} xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"} xref: UMLS:C3280240 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614231"} is_a: MONDO:0100328 {source="OMIM:614231"} ! microcephaly, epilepsy, and diabetes syndrome @@ -425197,7 +425023,6 @@ is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia id: MONDO:0032639 name: hearing loss, autosomal recessive 112 synonym: "deafness, autosomal recessive 112" NARROW [OMIM:618257, OMIM:genemap2] -synonym: "deafness, autosomal recessive 112" NARROW [OMIM:618257] synonym: "DFNB112" NARROW ABBREVIATION [OMIM:618257] xref: DOID:0111637 {source="MONDO:equivalentTo"} xref: OMIM:618257 {source="MONDO:equivalentTo"} @@ -426022,7 +425847,6 @@ is_a: MONDO:0019046 {source="OMIM:618404"} ! leukodystrophy id: MONDO:0032732 name: hearing loss, autosomal recessive 113 synonym: "deafness, autosomal recessive 113" NARROW [OMIM:618410, OMIM:genemap2] -synonym: "deafness, autosomal recessive 113" NARROW [OMIM:618410] synonym: "DFNB113" NARROW ABBREVIATION [OMIM:618410] xref: DOID:0111636 {source="MONDO:equivalentTo"} xref: OMIM:618410 {source="MONDO:equivalentTo"} @@ -426097,7 +425921,6 @@ is_a: MONDO:0004983 {source="OMIM:618420"} ! azoospermia [Term] id: MONDO:0032740 name: hearing loss, autosomal recessive 100 -synonym: "deafness, autosomal recessive 100" NARROW [OMIM:618422] synonym: "deafness, autosomal recessive 100" NARROW [OMIM:618422, OMIM:genemap2] synonym: "DFNB100" NARROW ABBREVIATION [OMIM:618422] xref: DOID:0111638 {source="MONDO:equivalentTo"} @@ -426188,7 +426011,6 @@ is_a: MONDO:0004983 {source="OMIM:618433"} ! azoospermia [Term] id: MONDO:0032749 name: hearing loss, autosomal recessive 94 -synonym: "deafness, autosomal recessive 94" NARROW [OMIM:618434] synonym: "deafness, autosomal recessive 94" NARROW [OMIM:618434, OMIM:genemap2] synonym: "DFNB94" NARROW ABBREVIATION [OMIM:618434] xref: DOID:0111641 {source="MONDO:equivalentTo"} @@ -426322,7 +426144,6 @@ is_a: MONDO:0003847 {source="OMIM:618454"} ! Mendelian disease [Term] id: MONDO:0032761 name: hearing loss, autosomal recessive 114 -synonym: "deafness, autosomal recessive 114" NARROW [OMIM:618456] synonym: "deafness, autosomal recessive 114" NARROW [OMIM:618456, OMIM:genemap2] synonym: "DFNB114" NARROW ABBREVIATION [OMIM:618456] xref: DOID:0111642 {source="MONDO:equivalentTo"} @@ -426338,7 +426159,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 id: MONDO:0032762 name: hearing loss, autosomal recessive 115 synonym: "deafness, autosomal recessive 115" NARROW [OMIM:618457, OMIM:genemap2] -synonym: "deafness, autosomal recessive 115" NARROW [OMIM:618457] synonym: "DFNB115" NARROW ABBREVIATION [OMIM:618457] xref: DOID:0111643 {source="MONDO:equivalentTo"} xref: OMIM:618457 {source="MONDO:equivalentTo"} @@ -426492,7 +426312,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3680 id: MONDO:0032776 name: hearing loss, autosomal recessive 99 synonym: "deafness, autosomal recessive 99" NARROW [OMIM:618481, OMIM:genemap2] -synonym: "deafness, autosomal recessive 99" NARROW [OMIM:618481] synonym: "DFNB99" NARROW ABBREVIATION [OMIM:618481] xref: DOID:0111634 {source="MONDO:equivalentTo"} xref: OMIM:618481 {source="MONDO:equivalentTo"} @@ -426789,7 +426608,6 @@ id: MONDO:0032802 name: hearing loss, autosomal dominant 37 synonym: "DEAFNESS, AUTOSOMAL DOMINANT 37" NARROW [OMIM:618533] synonym: "deafness, autosomal dominant 37" NARROW [OMIM:618533, OMIM:genemap2] -synonym: "deafness, autosomal dominant 37" NARROW [OMIM:618533] synonym: "DFNA37" NARROW ABBREVIATION [OMIM:618533] xref: OMIM:618533 {source="MONDO:equivalentTo"} xref: UMLS:C4760307 {source="OMIM:618533"} @@ -427844,7 +427662,6 @@ id: MONDO:0032911 name: hearing loss, autosomal dominant 75 synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75" NARROW [OMIM:618778] synonym: "deafness, autosomal dominant 75" NARROW [OMIM:618778, OMIM:genemap2] -synonym: "deafness, autosomal dominant 75" NARROW [OMIM:618778] synonym: "DFNA75" NARROW ABBREVIATION [OMIM:618778] xref: OMIM:618778 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618778"} ! Mendelian disease @@ -427906,7 +427723,6 @@ id: MONDO:0032917 name: hearing loss, autosomal dominant 76 synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76" NARROW [OMIM:618787] synonym: "deafness, autosomal dominant 76" NARROW [OMIM:618787, OMIM:genemap2] -synonym: "deafness, autosomal dominant 76" NARROW [OMIM:618787] synonym: "DFNA76" NARROW ABBREVIATION [OMIM:618787] xref: OMIM:618787 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618787"} ! Mendelian disease @@ -428501,7 +428317,6 @@ id: MONDO:0033199 name: hearing loss, autosomal recessive 107 synonym: "autosomal recessive nonsyndromic deafness 107" NARROW [DOID:0080262] synonym: "deafness, autosomal recessive 107" NARROW [OMIM:617639, OMIM:genemap2] -synonym: "deafness, autosomal recessive 107" NARROW [OMIM:617639] synonym: "DFNB107" NARROW ABBREVIATION [OMIM:617639] xref: DOID:0080262 {source="MONDO:equivalentTo"} xref: OMIM:617639 {source="DOID:0080262", source="MONDO:equivalentTo"} @@ -428516,7 +428331,6 @@ id: MONDO:0033200 name: hearing loss, autosomal recessive 108 synonym: "autosomal recessive nonsyndromic deafness 108" NARROW [DOID:0080263] synonym: "deafness, autosomal recessive 108" NARROW [OMIM:617654, OMIM:genemap2] -synonym: "deafness, autosomal recessive 108" NARROW [OMIM:617654] synonym: "DFNB108" NARROW ABBREVIATION [OMIM:617654] xref: DOID:0080263 {source="MONDO:equivalentTo"} xref: OMIM:617654 {source="DOID:0080263", source="MONDO:equivalentTo"} @@ -428529,8 +428343,7 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 [Term] id: MONDO:0033201 name: hearing loss, autosomal recessive 57 -synonym: "deafness, autosomal recessive 57" NARROW [OMIM:618003, OMIM:genemap2] -synonym: "deafness, autosomal recessive 57" NARROW CLINGEN_PREFERRED [OMIM:618003] +synonym: "deafness, autosomal recessive 57" NARROW CLINGEN_PREFERRED [OMIM:618003, OMIM:genemap2] synonym: "DFNB57" NARROW ABBREVIATION [OMIM:618003] xref: DOID:0111635 {source="MONDO:equivalentTo"} xref: OMIM:618003 {source="MONDO:equivalentTo"} @@ -428542,7 +428355,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 [Term] id: MONDO:0033202 name: hearing loss, autosomal recessive 109 -synonym: "deafness, autosomal recessive 109" NARROW [OMIM:618013] synonym: "deafness, autosomal recessive 109" NARROW [OMIM:618013, OMIM:genemap2] synonym: "DFNB109" NARROW ABBREVIATION [OMIM:618013] xref: DOID:0111639 {source="MONDO:equivalentTo"} @@ -428598,7 +428410,6 @@ relationship: has_modifier MONDO:0021152 {source="OMIMPS:251280"} ! inherited id: MONDO:0033258 name: hearing loss, autosomal dominant 71 synonym: "autosomal dominant nonsyndromic deafness 71" NARROW [DOID:0080267] -synonym: "deafness, autosomal dominant 71" NARROW [OMIM:617605] synonym: "deafness, autosomal dominant 71" NARROW [OMIM:617605, OMIM:genemap2] synonym: "DFNA71" NARROW ABBREVIATION [OMIM:617605] xref: DOID:0080267 {source="MONDO:equivalentTo"} @@ -428614,7 +428425,6 @@ id: MONDO:0033259 name: hearing loss, autosomal dominant 72 synonym: "autosomal dominant nonsyndromic deafness 72" NARROW [DOID:0080268] synonym: "deafness, autosomal dominant 72" NARROW [OMIM:617606, OMIM:genemap2] -synonym: "deafness, autosomal dominant 72" NARROW [OMIM:617606] synonym: "DFNA72" NARROW ABBREVIATION [OMIM:617606] xref: DOID:0080268 {source="MONDO:equivalentTo"} xref: OMIM:617606 {source="DOID:0080268", source="MONDO:equivalentTo"} @@ -428628,7 +428438,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 id: MONDO:0033260 name: hearing loss, autosomal dominant 73 synonym: "autosomal dominant nonsyndromic deafness 73" NARROW [DOID:0080269] -synonym: "deafness, autosomal dominant 73" NARROW [OMIM:617663] synonym: "deafness, autosomal dominant 73" NARROW [OMIM:617663, OMIM:genemap2] synonym: "DFNA73" NARROW ABBREVIATION [OMIM:617663] xref: DOID:0080269 {source="MONDO:equivalentTo"} @@ -428643,7 +428452,6 @@ relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/551 id: MONDO:0033261 name: hearing loss, autosomal dominant 34, with or without inflammation synonym: "autosomal dominant nonsyndromic deafness 34" NARROW [DOID:0080270] -synonym: "deafness, autosomal dominant 34, with or without inflammation" NARROW [OMIM:617772] synonym: "deafness, autosomal dominant 34, with or without inflammation" NARROW [OMIM:617772, OMIM:genemap2] synonym: "DFNA34" NARROW ABBREVIATION [OMIM:617772] xref: DOID:0080270 {source="MONDO:equivalentTo"} @@ -429776,7 +429584,6 @@ is_a: MONDO:0003847 ! Mendelian disease [Term] id: MONDO:0033665 name: hearing loss, autosomal dominant 78 -synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081] synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081, OMIM:genemap2] synonym: "DFNA78" NARROW ABBREVIATION [OMIM:619081] xref: OMIM:619081 {source="MONDO:equivalentTo"} @@ -429795,7 +429602,6 @@ is_a: MONDO:0003847 ! Mendelian disease [Term] id: MONDO:0033668 name: hearing loss, autosomal dominant 79 -synonym: "deafness, autosomal dominant 79" NARROW [OMIM:619086] synonym: "deafness, autosomal dominant 79" NARROW [OMIM:619086, OMIM:genemap2] synonym: "DFNA79" NARROW ABBREVIATION [OMIM:619086] xref: OMIM:619086 {source="MONDO:equivalentTo"} @@ -429815,7 +429621,6 @@ is_a: MONDO:0018997 {source="OMIM:619087"} ! Noonan syndrome [Term] id: MONDO:0033670 name: hearing loss, autosomal recessive 116 -synonym: "deafness, autosomal recessive 116" NARROW [OMIM:619093] synonym: "deafness, autosomal recessive 116" NARROW [OMIM:619093, OMIM:genemap2] synonym: "DFNB116" NARROW ABBREVIATION [OMIM:619093] xref: OMIM:619093 {source="MONDO:equivalentTo"} @@ -430163,7 +429968,7 @@ xref: OMIM:616471 {source="MONDO:equivalentTo"} xref: Orphanet:536516 {source="MONDO:equivalentTo"} xref: Orphanet:610 {source="MONDO:subClassOf", source="OMIM:616471"} xref: UMLS:C4225313 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008029 {source="MONDO:Redundant", source="OMIM:616471", source="ORDO:610/btnt"} ! Bethlem myopathy +is_a: MONDO:0008029 {source="MONDO:Redundant", source="OMIM:616471", source="Orphanet:610/btnt"} ! Bethlem myopathy is_a: MONDO:0019950 {source="Orphanet:536516"} ! congenital muscular dystrophy is_a: MONDO:0020066 {source="Orphanet:536516"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0008029 ! Bethlem myopathy @@ -430445,7 +430250,7 @@ relationship: has_modifier MONDO:0021140 ! congenital id: MONDO:0034217 name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta subset: ordo_disease -xref: ICD10CM:E07.8 {source="MONDO:subClassOf", source="ORDO:Attributed", source="Orphanet:566243"} +xref: ICD10CM:E07.8 {source="MONDO:subClassOf", source="Orphanet:Attributed", source="Orphanet:566243"} xref: OMIM:188570 {source="MONDO:subClassOf", source="Orphanet:566243"} xref: OMIM:274300 {source="MONDO:subClassOf", source="Orphanet:566243"} xref: Orphanet:566243 {source="MONDO:equivalentTo"} @@ -434874,7 +434679,6 @@ name: eosinophil peroxidase deficiency def: "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." [OMIM:261500] subset: gard_rare synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500, OMIM:genemap2] -synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500] synonym: "eosinophil peroxidase deficiency, Partial" RELATED [OMIM:261500] synonym: "eosinophil peroxidase deficiency, partial" RELATED [GARD:0012361, MESH:C564893] synonym: "EPXD" RELATED ABBREVIATION [GARD:0012361, OMIM:261500] @@ -438338,7 +438142,7 @@ xref: OMIM:600166 {source="MONDO:equivalentTo"} xref: Orphanet:99878 {source="MONDO:subClassOf", source="OMIM:600166"} xref: UMLS:C1838501 {source="OMIM:600166", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0010837 {source="MESH:C563982", source="indirect"} ! primary hyperparathyroidism -is_a: MONDO:0020524 {source="ORDO:99878/btnt"} ! primary parathyroid hyperplasia +is_a: MONDO:0020524 {source="Orphanet:99878/btnt"} ! primary parathyroid hyperplasia [Term] id: MONDO:0044351 @@ -439647,14 +439451,14 @@ synonym: "NLPHL" EXACT ABBREVIATION [NCIT:C7258, Orphanet:86893] synonym: "nodular lymphocyte predominant Hodgkin lymphoma" EXACT [NCIT:C7258] synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7258] synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [NCIT:C7258] -xref: ICD10CM:C81.0 {source="Orphanet:86893", source="ORDO:86893/ntbt"} +xref: ICD10CM:C81.0 {source="Orphanet:86893", source="Orphanet:86893/ntbt"} xref: MEDGEN:233758 {source="UMLS:C1334968"} xref: MESH:D006689 {source="UMLS:C1334968"} xref: NCIT:C7258 {source="MONDO:equivalentTo"} xref: ONCOTREE:NLPHL {source="MONDO:equivalentTo"} xref: Orphanet:86893 {source="MONDO:equivalentTo"} -xref: UMLS:C1334968 {source="Orphanet:86893", source="MONDO:equivalentTo", source="ORDO:86893/e"} -xref: UMLS:C2239290 {source="Orphanet:86893", source="MONDO:notFoundInDiseaseSubset", source="ORDO:86893/e"} +xref: UMLS:C1334968 {source="Orphanet:86893", source="MONDO:equivalentTo", source="Orphanet:86893/e"} +xref: UMLS:C2239290 {source="Orphanet:86893", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86893/e"} is_a: MONDO:0004952 {source="NCIT:C7258", source="ONCOTREE:NLPHL", source="Orphanet:86893"} ! Hodgkins lymphoma relationship: disease_has_feature MONDO:0043346 {source="NCIT:C7258"} ! progressive transformation of germinal centers @@ -439833,8 +439637,8 @@ synonym: "pigmented moles" RELATED [OMIM:137550] synonym: "spitz Nevus" RELATED [OMIM:137550] synonym: "spitz nevus or nevus spilus, somatic" EXACT [OMIM:137550, OMIM:genemap2] xref: DOID:0111359 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.5 {source="Orphanet:626", source="ORDO:626/attributed", source="ORDO:626/ntbt"} -xref: MedDRA:10072036 {source="ORDO:626/e", source="Orphanet:626"} +xref: ICD10CM:Q82.5 {source="Orphanet:626", source="Orphanet:626/attributed", source="Orphanet:626/ntbt"} +xref: MedDRA:10072036 {source="Orphanet:626", source="Orphanet:626/e"} xref: NCIT:C3944 {source="MONDO:equivalentTo"} xref: OMIM:137550 {source="MONDO:equivalentTo", source="Orphanet:626"} xref: ONCOTREE:SKCN {source="MONDO:equivalentTo"} @@ -439842,8 +439646,8 @@ xref: Orphanet:626 {source="OMIM:137550", source="MONDO:equivalentTo"} xref: SCTID:398696001 {source="MONDO:equivalentTo"} xref: UMLS:C0206739 {source="OMIM:137550", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0346099 {source="OMIM:137550", source="MONDO:notFoundInDiseaseSubset"} -xref: UMLS:C1318558 {source="ORDO:626/e", source="MONDO:equivalentTo", source="Orphanet:626"} -xref: UMLS:C1842036 {source="ORDO:626/e", source="OMIM:137550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:626"} +xref: UMLS:C1318558 {source="MONDO:equivalentTo", source="Orphanet:626", source="Orphanet:626/e"} +xref: UMLS:C1842036 {source="OMIM:137550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:626", source="Orphanet:626/e"} is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3944", source="Orphanet:626", source="indirect", source="linkedlifedata"} ! melanocytic nevus is_a: MONDO:0015950 {source="Orphanet:626", source="indirect"} ! inherited skin tumor is_a: MONDO:0021583 {source="NCIT:C3944", source="indirect"} ! melanocytic skin neoplasm @@ -441663,7 +441467,7 @@ synonym: "CDG2Q" RELATED ABBREVIATION [OMIM:617395] synonym: "COG2-CDG" EXACT ABBREVIATION [MONDO:0018568] synonym: "COG2-related congenital disorder of glycosylation" EXACT [Orphanet:435934] xref: DOID:0070269 {source="MONDO:equivalentTo"} -xref: ICD10CM:E77.8 {source="ORDO:435934/attributed", source="ORDO:435934/ntbt", source="Orphanet:435934"} +xref: ICD10CM:E77.8 {source="Orphanet:435934", source="Orphanet:435934/attributed", source="Orphanet:435934/ntbt"} xref: OMIM:617395 {source="MONDO:equivalentTo", source="Orphanet:435934"} xref: Orphanet:435934 {source="MONDO:equivalentTo", source="OMIM:617395"} xref: UMLS:C4479353 {source="MONDO:equivalentTo", source="OMIM:617395"} @@ -442688,7 +442492,6 @@ is_a: MONDO:0019347 {source="OMIM:618084"} ! peeling skin syndrome [Term] id: MONDO:0054860 name: hearing loss, autosomal recessive 110 -synonym: "deafness, autosomal recessive 110" NARROW [OMIM:618094] synonym: "deafness, autosomal recessive 110" NARROW [OMIM:618094, OMIM:genemap2] synonym: "DFNB110" NARROW ABBREVIATION [OMIM:618094] xref: DOID:0111644 {source="MONDO:equivalentTo"} @@ -443193,8 +442996,7 @@ synonym: "benign hypersuccinylacetonemia" RELATED [OMIM:617596] synonym: "hypersuccinylacetonemia, mild" RELATED [OMIM:617596] synonym: "MAAI deficiency" RELATED [OMIM:617596] synonym: "MAAID" RELATED ABBREVIATION [OMIM:617596] -synonym: "maleylacetoacetate isomerase deficiency" EXACT [OMIM:617596, OMIM:genemap2] -synonym: "maleylacetoacetate isomerase deficiency" EXACT CLINGEN_PREFERRED [OMIM:617596] +synonym: "maleylacetoacetate isomerase deficiency" EXACT CLINGEN_PREFERRED [OMIM:617596, OMIM:genemap2] xref: OMIM:617596 {source="MONDO:equivalentTo"} xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="OMIM:617596"} is_a: MONDO:0003847 ! Mendelian disease @@ -444244,12 +444046,12 @@ def: "A group of skin conditions that cause constant inflammation and scaling of subset: gard_rare {source="GARD:0007401"} xref: DOID:9212 {source="MONDO:equivalentTo"} xref: GARD:0007401 {source="MONDO:equivalentTo"} -xref: ICD10CM:L44.0 {source="ORDO:2897/specific", source="ORDO:2897/e", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212"} +xref: ICD10CM:L44.0 {source="MONDO:equivalentTo", source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} xref: ICD9:696.4 {source="MONDO:equivalentTo", source="i2s", source="DOID:9212"} -xref: MESH:D010916 {source="ORDO:2897/e", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212"} +xref: MESH:D010916 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"} xref: NCIT:C85014 {source="MONDO:equivalentTo", source="DOID:9212"} xref: SCTID:3755001 {source="MONDO:equivalentTo", source="DOID:9212"} -xref: UMLS:C0032027 {source="ORDO:2897/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="NCIT:C85014", source="OMIM:173200"} +xref: UMLS:C0032027 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="NCIT:C85014", source="OMIM:173200", source="Orphanet:2897/e"} is_a: MONDO:0006547 {source="https://orcid.org/0000-0001-5208-3432"} ! exanthem is_a: MONDO:0019270 {source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/3470 xsd:string @@ -444515,7 +444317,7 @@ synonym: "acrofrontofacionasal dysostosis 1" EXACT [OMIM:201180] synonym: "acrofrontofacionasal dysostosis type 1" EXACT [MONDORULE:1, OMIM:201180] synonym: "AFFN dysostosis 1" EXACT [OMIM:201180] xref: MESH:C538186 {source="DOID:0060226", source="MONDO:equivalentTo"} -xref: OMIM:201180 {source="ORDO:1784/e", source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo"} +xref: OMIM:201180 {source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo", source="Orphanet:1784/e"} xref: UMLS:C4551987 {source="MONDO:equivalentTo"} is_a: MONDO:0008715 {source="OMIM:201180"} ! acrofrontofacionasal dysostosis created_by: http://orcid.org/0000-0001-5208-3432 @@ -444678,27 +444480,27 @@ xref: DOID:0050709 {source="MONDO:equivalentTo"} xref: DOID:2481 {source="MONDO:equivalentObsolete", source="EFO:1000643"} xref: EFO:1000643 {source="MONDO:equivalentTo"} xref: GARD:0009255 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G40.3 {source="ORDO:1934/attributed", source="ORDO:1934/ntbt", source="Orphanet:1934"} +xref: ICD10CM:G40.3 {source="Orphanet:1934", source="Orphanet:1934/attributed", source="Orphanet:1934/ntbt"} xref: ICD10CM:G40.82 {source="DOID:2481"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="i2s"} xref: ICD9:345.6 {source="DOID:2481"} -xref: MedDRA:10071545 {source="Orphanet:1934", source="ORDO:1934/e"} +xref: MedDRA:10071545 {source="Orphanet:1934/e", source="Orphanet:1934"} xref: MESH:D013036 {source="DOID:2481"} xref: NCIT:C122814 {source="MONDO:equivalentTo"} xref: NCIT:C84788 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: OMIM:300607 {source="MONDO:superClassOf", source="DOID:2481"} -xref: OMIM:300672 {source="ORDO:1934/btnt", source="MONDO:superClassOf"} -xref: OMIM:308350 {source="ORDO:1934/btnt", source="MONDO:superClassOf"} +xref: OMIM:300672 {source="MONDO:superClassOf", source="Orphanet:1934/btnt"} +xref: OMIM:308350 {source="MONDO:superClassOf", source="Orphanet:1934/btnt"} xref: OMIM:607208 {source="MONDO:superClassOf", source="DOID:2481"} -xref: OMIM:609304 {source="ORDO:1934/btnt", source="MONDO:superClassOf", source="DOID:2481"} -xref: OMIM:612164 {source="ORDO:1934/btnt", source="MONDO:superClassOf", source="DOID:2481"} -xref: OMIM:613402 {source="ORDO:1934/btnt", source="MONDO:superClassOf", source="DOID:2481"} +xref: OMIM:609304 {source="MONDO:superClassOf", source="Orphanet:1934/btnt", source="DOID:2481"} +xref: OMIM:612164 {source="MONDO:superClassOf", source="Orphanet:1934/btnt", source="DOID:2481"} +xref: OMIM:613402 {source="MONDO:superClassOf", source="Orphanet:1934/btnt", source="DOID:2481"} xref: OMIM:613477 {source="MONDO:superClassOf", source="DOID:2481"} xref: OMIM:613720 {source="MONDO:superClassOf", source="DOID:2481"} -xref: OMIM:613721 {source="ORDO:1934/btnt", source="MONDO:superClassOf", source="DOID:2481"} +xref: OMIM:613721 {source="MONDO:superClassOf", source="Orphanet:1934/btnt", source="DOID:2481"} xref: OMIM:613722 {source="MONDO:superClassOf", source="DOID:2481"} -xref: OMIM:615473 {source="ORDO:1934/btnt", source="MONDO:superClassOf"} -xref: OMIM:616341 {source="ORDO:1934/btnt", source="MONDO:superClassOf"} +xref: OMIM:615473 {source="MONDO:superClassOf", source="Orphanet:1934/btnt"} +xref: OMIM:616341 {source="MONDO:superClassOf", source="Orphanet:1934/btnt"} xref: OMIMPS:308350 {source="MONDO:pnr", source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="MONDO:equivalentTo"} xref: SCTID:155042008 {source="DOID:2481"} @@ -444709,7 +444511,7 @@ xref: SCTID:230429005 {source="MONDO:equivalentTo"} xref: SCTID:28055006 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: SCTID:288197007 {source="DOID:2481"} xref: UMLS:C0037769 {source="MONDO:directSiblingOf", source="DOID:2481"} -xref: UMLS:C0393706 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1934", source="ORDO:1934/e"} +xref: UMLS:C0393706 {source="Orphanet:1934/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1934"} is_a: MONDO:0005579 {source="DOID:2481", source="linkedlifedata/inferred"} ! epilepsy, idiopathic generalized is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0100022 {source="Orphanet:1934", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome @@ -444930,7 +444732,7 @@ synonym: "LEOPARD syndrome type 1" EXACT [MONDORULE:1, OMIM:151100] synonym: "LPRD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:151100] synonym: "multiple lentigines syndrome" EXACT [OMIM:151100] xref: DOID:0080548 {source="MONDO:equivalentTo"} -xref: OMIM:151100 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="ORDO:500/e"} +xref: OMIM:151100 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"} is_a: MONDO:0007893 ! Noonan syndrome with multiple lentigines relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9644 {source="mim2gene_medgen"} ! PTPN11 @@ -444949,7 +444751,7 @@ synonym: "hereditary thrombocytopenia and hematological cancer predisposition sy synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] -xref: OMIM:601399 {source="MONDO:equivalentTo", source="ORDO:71290/e", source="Orphanet:71290"} +xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"} is_a: MONDO:0011071 {source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10471 {source="https://clinicalgenome.org/affiliation/50034/"} ! RUNX1 created_by: http://orcid.org/0000-0001-5208-3432 @@ -445174,7 +444976,7 @@ synonym: "FADS1" EXACT ABBREVIATION [OMIM:208150] synonym: "Pena-Shokeir syndrome type 1" EXACT [Orphanet:994] synonym: "Pena-Shokeir syndrome, type 1" EXACT [OMIM:208150] xref: DOID:0111377 {source="MONDO:equivalentTo"} -xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="ORDO:994/e"} +xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="Orphanet:994/e"} xref: Orphanet:994 {source="MONDO:equivalentTo", source="OMIM:208150"} is_a: MONDO:0008824 ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence @@ -445425,7 +445227,7 @@ name: intracranial arachoid cyst def: "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid." [OMIM:207790] synonym: "arachnoid cysts, intracranial" EXACT [GARD:0000017, OMIM:207790] synonym: "intracranial arachnoid cysts" EXACT [GARD:0000017] -xref: OMIM:207790 {source="ORDO:2356/e", source="Orphanet:2356", source="GARD:0000017", source="MONDO:equivalentTo"} +xref: OMIM:207790 {source="Orphanet:2356", source="GARD:0000017", source="MONDO:equivalentTo", source="Orphanet:2356/e"} xref: UMLS:C0751615 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:207790"} is_a: MONDO:0008813 ! arachnoid cyst created_by: http://orcid.org/0000-0001-5208-3432 @@ -445488,7 +445290,7 @@ xref: DOID:0060536 {source="MONDO:equivalentTo"} xref: GARD:0003908 {source="MONDO:equivalentTo"} xref: MESH:C537475 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="MONDO:equivalentTo"} -xref: UMLS:C2936907 {source="MONDO:equivalentObsolete", source="OMIM:252010", source="DOID:0060536", source="Orphanet:2609", source="ORDO:2609/e"} +xref: UMLS:C2936907 {source="MONDO:equivalentObsolete", source="Orphanet:2609/e", source="OMIM:252010", source="DOID:0060536", source="Orphanet:2609"} is_a: MONDO:0000066 ! mitochondrial complex deficiency intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_dysfunction_of GO:0005747 ! mitochondrial respiratory chain complex I @@ -445804,9 +445606,9 @@ synonym: "permanent diabetes mellitus of infancy" EXACT [DOID:0060639] synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical, OMIMPS:606176, Orphanet:99885] xref: DOID:0060639 {source="MONDO:equivalentTo"} xref: GARD:0010457 {source="MONDO:equivalentTo"} -xref: ICD10CM:P70.2 {source="MONDO:subClassOf", source="Orphanet:99885", source="ORDO:99885/attributed", source="ORDO:99885/ntbt"} +xref: ICD10CM:P70.2 {source="MONDO:subClassOf", source="Orphanet:99885", source="Orphanet:99885/attributed", source="Orphanet:99885/ntbt"} xref: NCIT:C114902 {source="MONDO:equivalentTo"} -xref: OMIMPS:606176 {source="Orphanet:99885", source="MONDO:equivalentTo", source="DOID:0060639", source="ORDO:99885/e"} +xref: OMIMPS:606176 {source="Orphanet:99885", source="MONDO:equivalentTo", source="Orphanet:99885/e", source="DOID:0060639"} xref: Orphanet:79134 {source="MONDO:superClassOf", source="OMIMPS:606176"} xref: Orphanet:99885 {source="MONDO:equivalentTo", source="OMIMPS:606176"} xref: SCTID:609565001 {source="MONDO:equivalentTo"} @@ -445839,21 +445641,21 @@ id: MONDO:0100172 name: intellectual disability, autosomal dominant synonym: "autosomal dominant intellectual disability" EXACT [OMIMPS:156200] synonym: "mental retardation, autosomal dominant" BROAD DEPRECATED [OMIMPS:156200] -xref: OMIM:156200 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:612580 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:612581 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:612621 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:613970 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:614113 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:614254 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:614255 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:614256 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:614257 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:614563 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:615828 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:616393 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} -xref: OMIM:616521 {source="MONDO:superClassOf", source="ORDO:178469/w"} -xref: OMIM:616579 {source="ORDO:178469/btnt", source="MONDO:superClassOf"} +xref: OMIM:156200 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:612580 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:612581 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:612621 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:613970 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:614113 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:614254 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:614255 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:614256 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:614257 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:614563 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:615828 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:616393 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} +xref: OMIM:616521 {source="MONDO:superClassOf", source="Orphanet:178469/w"} +xref: OMIM:616579 {source="MONDO:superClassOf", source="Orphanet:178469/btnt"} xref: OMIMPS:156200 {source="MONDO:equivalentTo"} is_a: MONDO:0001071 {source="OMIMPS:156200"} ! intellectual disability intersection_of: MONDO:0001071 ! intellectual disability @@ -445922,13 +445724,13 @@ synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO: synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1, OMIM:233910] synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] xref: GARD:0002844 {source="MONDO:equivalentTo"} -xref: ICD10CM:E70.1 {source="Orphanet:2102", source="ORDO:2102/attributed", source="ORDO:2102/ntbt"} +xref: ICD10CM:E70.1 {source="Orphanet:2102", source="Orphanet:2102/attributed", source="Orphanet:2102/ntbt"} xref: NCIT:C141442 {source="MONDO:equivalentTo"} -xref: OMIM:233910 {source="Orphanet:2102", source="ORDO:2102/e", source="MONDO:equivalentTo"} +xref: OMIM:233910 {source="Orphanet:2102", source="MONDO:equivalentTo", source="Orphanet:2102/e"} xref: Orphanet:2102 {source="MONDO:equivalentTo", source="OMIM:233910"} xref: Orphanet:238583 {source="MONDO:subClassOf", source="OMIM:233910"} xref: SCTID:23447005 {source="MONDO:equivalentTo"} -xref: UMLS:C0268467 {source="Orphanet:2102", source="ORDO:2102/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:233910"} +xref: UMLS:C0268467 {source="Orphanet:2102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2102/e", source="OMIM:233910"} xref: UMLS:C2673535 {source="MONDO:subClassOf", source="OMIM:233910"} is_a: MONDO:0016543 {source="DC-OMIM:233910", source="Orphanet:2102", source="linkedlifedata"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency @@ -446117,10 +445919,10 @@ synonym: "Laron syndrome due to postreceptor defect" EXACT [OMIM:245590] synonym: "Laron syndrome with immunodeficiency" EXACT [MONDO:0009510] synonym: "Laron-like syndrome" EXACT [Orphanet:220465] synonym: "short stature due to STAT5b deficiency" EXACT [Orphanet:220465] -xref: ICD10CM:D82.8 {source="Orphanet:220465", source="ORDO:220465/attributed", source="ORDO:220465/ntbt"} -xref: ICD10CM:E34.3 {source="Orphanet:220465", source="ORDO:220465/attributed", source="ORDO:220465/ntbt"} +xref: ICD10CM:D82.8 {source="Orphanet:220465/attributed", source="Orphanet:220465/ntbt", source="Orphanet:220465"} +xref: ICD10CM:E34.3 {source="Orphanet:220465/attributed", source="Orphanet:220465/ntbt", source="Orphanet:220465"} xref: MESH:C537871 {source="MONDO:equivalentTo"} -xref: OMIM:245590 {source="Orphanet:220465", source="ORDO:220465/e", source="MONDO:equivalentTo"} +xref: OMIM:245590 {source="Orphanet:220465", source="MONDO:equivalentTo", source="Orphanet:220465/e"} xref: Orphanet:220465 {source="OMIM:245590", source="MONDO:equivalentTo"} xref: SCTID:724179008 {source="MONDO:equivalentTo"} xref: UMLS:C1855548 {source="OMIM:245590", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -446159,11 +445961,11 @@ synonym: "IFAP syndrome with or without BRESHECK syndrome" EXACT CLINGEN_PREFERR synonym: "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" EXACT [OMIM:308205, OMIM:genemap2] synonym: "IFAP/BRESHECK syndrome" EXACT [MONDO:0010624] xref: GARD:0002952 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: MESH:C536085 {source="MONDO:equivalentTo", source="ORDO:2273/e", source="Orphanet:2273"} -xref: OMIM:308205 {source="MONDO:equivalentTo", source="ORDO:2273/e", source="Orphanet:2273"} +xref: MESH:C536085 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} +xref: OMIM:308205 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} xref: Orphanet:2273 {source="OMIM:308205", source="MONDO:equivalentTo"} xref: Orphanet:85284 {source="OMIM:308205", source="MONDO:superClassOf"} -xref: UMLS:C1839988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2273/e", source="Orphanet:2273"} +xref: UMLS:C1839988 {source="NCBI:mim2gene_medline", source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"} xref: UMLS:C3275579 {source="OMIM:308205", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0100212 {xref="OMIM:308205"} ! IFAP syndrome intersection_of: MONDO:0100212 ! IFAP syndrome @@ -446194,7 +445996,7 @@ synonym: "developmental delay, small stature, microcephaly, and brain calcificat synonym: "NEDBLLA" RELATED ABBREVIATION [OMIM:618007] synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007] synonym: "Rajab syndrome" RELATED [OMIM:613658] -xref: OMIM:613658 {source="MONDO:equivalentTo", source="Orphanet:178506", source="ORDO:178506/e"} +xref: OMIM:613658 {source="Orphanet:178506/e", source="MONDO:equivalentTo", source="Orphanet:178506"} xref: OMIM:618007 {source="MONDO:equivalentObsolete"} xref: Orphanet:178506 {source="MONDO:equivalentTo", source="OMIM:613658"} xref: SCTID:720576001 {source="MONDO:equivalentTo"} @@ -446283,12 +446085,12 @@ synonym: "NADH-coenzyme Q reductase deficiency" EXACT [OMIM:252010] synonym: "NADH:Q(1) oxidoreductase deficiency" EXACT [OMIM:252010] xref: DOID:0060536 {source="MONDO:subClassOf"} xref: GARD:0003908 {source="MONDO:subClassOf"} -xref: ICD10CM:G71.3 {source="ORDO:2609/attributed", source="ORDO:2609/ntbt", source="Orphanet:2609"} +xref: ICD10CM:G71.3 {source="Orphanet:2609/attributed", source="Orphanet:2609/ntbt", source="Orphanet:2609"} xref: MESH:C537475 {source="MONDO:subClassOf", source="DOID:0060536"} -xref: OMIM:252010 {source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609", source="ORDO:2609/e"} +xref: OMIM:252010 {source="Orphanet:2609/e", source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609"} xref: Orphanet:2609 {source="MONDO:subClassOf", source="OMIM:252010", source="DOID:0060536"} xref: UMLS:C1838979 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:252010"} -xref: UMLS:C2936907 {source="MONDO:subClassOf", source="OMIM:252010", source="DOID:0060536", source="Orphanet:2609", source="ORDO:2609/e"} +xref: UMLS:C2936907 {source="MONDO:subClassOf", source="Orphanet:2609/e", source="OMIM:252010", source="DOID:0060536", source="Orphanet:2609"} is_a: MONDO:0009637 {source="Orphanet:2609"} ! inborn mitochondrial myopathy is_a: MONDO:0016805 {source="Orphanet:2609"} ! isolated oxidative phosphorylation complex disorder is_a: MONDO:0019058 {source="Orphanet:2609"} ! neurometabolic disease @@ -446352,9 +446154,9 @@ synonym: "deafness-enamel hypoplasia-nail defects syndrome" EXACT [MONDO:0009325 synonym: "Heimler syndrome" EXACT [Orphanet:3220] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687] xref: GARD:0001687 {source="MONDO:obsoleteEquivalent", source="Orphanet-shared"} -xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220", source="ORDO:3220/e"} -xref: OMIM:234580 {source="MONDO:superClassOf", source="Orphanet:3220", source="ORDO:3220/e"} -xref: OMIM:616617 {source="MONDO:superClassOf", source="ORDO:3220/btnt", source="Orphanet:3220"} +xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220/e", source="Orphanet:3220"} +xref: OMIM:234580 {source="Orphanet:3220/e", source="MONDO:superClassOf", source="Orphanet:3220"} +xref: OMIM:616617 {source="MONDO:superClassOf", source="Orphanet:3220/btnt", source="Orphanet:3220"} xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:obsoleteEquivalent"} xref: SCTID:721085000 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1856186 {source="MONDO:obsoleteEquivalent"} @@ -446427,8 +446229,8 @@ synonym: "paroxysmal familial ventricular fibrillation (disorder)" EXACT [] synonym: "paroxysmal ventricular fibrillation" EXACT [GARD:0004227] synonym: "ventricular fibrillation, paroxysmal familial" EXACT [GARD:0004227] xref: GARD:0004227 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: OMIM:603829 {source="ORDO:228140", source="ORDO:228140/btnt", source="MONDO:superClassOf"} -xref: OMIM:612956 {source="ORDO:228140", source="ORDO:228140/btnt", source="MONDO:superClassOf"} +xref: OMIM:603829 {source="Orphanet:228140", source="MONDO:superClassOf", source="Orphanet:228140/btnt"} +xref: OMIM:612956 {source="Orphanet:228140", source="MONDO:superClassOf", source="Orphanet:228140/btnt"} xref: Orphanet:228140 {source="MONDO:equivalentTo", source="OMIM:603829"} is_a: MONDO:0000190 ! ventricular fibrillation property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/2524 xsd:anyURI @@ -446520,14 +446322,14 @@ name: glioma susceptibility def: "An inherited susceptibility or predisposition to developing glioma." [OMIMPS:137800] synonym: "glioma, susceptibility" EXACT [OMIMPS:137800] synonym: "glioma, susceptibility to" EXACT [OMIMPS:137800] -xref: OMIM:137800 {source="ORDO:182067/e", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:607248 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:613028 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:613029 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:613030 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:613031 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:613032 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} -xref: OMIM:613033 {source="ORDO:182067/btnt", source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067"} +xref: OMIM:137800 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/e"} +xref: OMIM:607248 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} +xref: OMIM:613028 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} +xref: OMIM:613029 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} +xref: OMIM:613030 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} +xref: OMIM:613031 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} +xref: OMIM:613032 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} +xref: OMIM:613033 {source="MONDO:superClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/btnt"} xref: OMIMPS:137800 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:137800"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -446542,8 +446344,8 @@ def: "An instance of paroxysmal nocturnal hemoglobinuria that is inherited." [MO comment: Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'. subset: obsoletion_candidate synonym: "hereditary paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/hereditary] -xref: OMIM:300818 {source="ORDO:447/e", source="Orphanet:447", source="MONDO:superClassOf", source="DOID:0060284"} -xref: OMIM:615399 {source="Orphanet:447", source="MONDO:superClassOf", source="ORDO:447/btnt", source="DOID:0060284"} +xref: OMIM:300818 {source="Orphanet:447", source="MONDO:superClassOf", source="Orphanet:447/e", source="DOID:0060284"} +xref: OMIM:615399 {source="Orphanet:447", source="Orphanet:447/btnt", source="MONDO:superClassOf", source="DOID:0060284"} xref: OMIMPS:300818 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0003656 {source="OMIMPS:300818"} ! hemoglobinuria is_a: MONDO:0003664 {source="OMIMPS:300818"} ! hemolytic anemia @@ -446584,10 +446386,10 @@ xref: DOID:0060284 {source="MONDO:equivalentTo"} xref: GARD:0007337 {source="MONDO:equivalentTo"} xref: HGNC:8957 {source="GARD:0007337"} xref: ICD10CM:D59.1 {source="DOID:0060284"} -xref: ICD10CM:D59.5 {source="ORDO:447/e", source="Orphanet:447", source="ORDO:447/specific", source="DOID:0060284"} +xref: ICD10CM:D59.5 {source="Orphanet:447", source="Orphanet:447/e", source="Orphanet:447/specific", source="DOID:0060284"} xref: ICD10CM:D59.6 {source="DOID:0060284"} -xref: MedDRA:10034042 {source="ORDO:447/e", source="Orphanet:447"} -xref: MESH:D006457 {source="ORDO:447/e", source="Orphanet:447", source="DOID:0060284"} +xref: MedDRA:10034042 {source="Orphanet:447", source="Orphanet:447/e"} +xref: MESH:D006457 {source="Orphanet:447", source="Orphanet:447/e", source="DOID:0060284"} xref: NCIT:C61233 {source="MONDO:equivalentTo", source="DOID:0060284"} xref: Orphanet:447 {source="MONDO:equivalentTo", source="DOID:0060284"} xref: SCTID:127057004 {source="MONDO:relatedTo", source="DOID:0060284"} @@ -446600,7 +446402,7 @@ xref: SCTID:1963002 {source="MONDO:subClassOf", source="DOID:0060284"} xref: SCTID:234377003 {source="DOID:0060284"} xref: SCTID:267559009 {source="DOID:0060284"} xref: UMLS:C0019050 {source="MONDO:equivalentTo", source="DOID:0060284"} -xref: UMLS:C0024790 {source="ORDO:447/e", source="Orphanet:447", source="MONDO:equivalentTo", source="NCIT:C61233", source="DOID:0060284"} +xref: UMLS:C0024790 {source="Orphanet:447", source="MONDO:equivalentTo", source="Orphanet:447/e", source="NCIT:C61233", source="DOID:0060284"} xref: UMLS:C0086774 {source="MONDO:notFoundInDiseaseSubset", source="DOID:0060284"} is_a: MONDO:0003656 {source="DOID:0060284"} ! hemoglobinuria is_a: MONDO:0003664 {source="Orphanet:447"} ! hemolytic anemia @@ -446661,15 +446463,15 @@ synonym: "XX sex reversal" RELATED [GARD:0000399] synonym: "XX, male syndrome" EXACT [Orphanet:393] xref: DOID:0111760 {source="MONDO:equivalentTo"} xref: GARD:0000399 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q99.1 {source="ORDO:393/attributed", source="ORDO:393/ntbt", source="Orphanet:393"} -xref: MESH:D058531 {source="MONDO:equivalentTo", source="ORDO:393/e", source="Orphanet:393"} +xref: ICD10CM:Q99.1 {source="Orphanet:393", source="Orphanet:393/attributed", source="Orphanet:393/ntbt"} +xref: MESH:D058531 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} xref: NCIT:C127170 {source="MONDO:equivalentTo"} -xref: OMIM:278850 {source="ORDO:393/btnt", source="MONDO:superClassOf", source="Orphanet:393"} -xref: OMIM:300833 {source="ORDO:393/btnt", source="MONDO:superClassOf", source="Orphanet:393"} +xref: OMIM:278850 {source="MONDO:superClassOf", source="Orphanet:393", source="Orphanet:393/btnt"} +xref: OMIM:300833 {source="MONDO:superClassOf", source="Orphanet:393", source="Orphanet:393/btnt"} xref: Orphanet:393 {source="OMIM:400045", source="MONDO:equivalentTo"} -xref: UMLS:C0432475 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:393/e", source="Orphanet:393"} +xref: UMLS:C0432475 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:393", source="Orphanet:393/e"} xref: UMLS:C2748895 {source="NCBI:mim2gene_medline", source="OMIM:400045", source="MONDO:directSiblingOf"} -xref: UMLS:C2936419 {source="MONDO:equivalentTo", source="ORDO:393/e", source="Orphanet:393", source="NCIT:C127170"} +xref: UMLS:C2936419 {source="MONDO:equivalentTo", source="Orphanet:393", source="NCIT:C127170", source="Orphanet:393/e"} xref: UMLS:CN205000 {source="MONDO:equivalentTo"} is_a: MONDO:0002145 {source="MESH:D058531/inferred", source="MONDO:Redundant", source="NCIT:C127170", source="OMIM:400045/inferred", source="Orphanet:393/inferred"} ! difference of sexual differentiation is_a: MONDO:0005372 ! male infertility @@ -446690,7 +446492,7 @@ synonym: "46XX sex reversal 1, X-linked dominant" EXACT [OMIM:400045, OMIM:genem synonym: "ovotesticular disorder of Sex development" EXACT [OMIM:400045] synonym: "ovotesticular DSD" EXACT [OMIM:400045] synonym: "SRXX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400045] -xref: OMIM:400045 {source="MONDO:equivalentTo", source="ORDO:393/e", source="Orphanet:393"} +xref: OMIM:400045 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} is_a: MONDO:0100249 {source="OMIM:400045"} ! 46,XX testicular disorder of sex development relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11311 {source="OMIM:400045", source="mim2gene_medgen"} ! SRY relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4521 @@ -446719,7 +446521,7 @@ synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [DOID:0111063] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" EXACT [MONDO:0008897] xref: DOID:0111063 {source="MONDO:equivalentTo"} xref: GARD:0010879 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:M11.2 {source="ORDO:306661/attributed", source="ORDO:306661/ntbt", source="DOID:0111063", source="Orphanet:306661"} +xref: ICD10CM:M11.2 {source="DOID:0111063", source="Orphanet:306661/attributed", source="Orphanet:306661/ntbt", source="Orphanet:306661"} xref: NCIT:C131851 {source="MONDO:equivalentTo"} xref: Orphanet:306661 {source="DOID:0111063", source="MONDO:equivalentTo", source="OMIM:211900"} xref: Orphanet:53715 {source="MONDO:subClassOf", source="OMIM:211900"} @@ -446789,10 +446591,10 @@ synonym: "mental retardation, autosomal recessive 8, formerly" RELATED DEPRECATE synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED DEPRECATED [OMIM:611094] synonym: "MRT8" EXACT DEPRECATED [DOID:0111038, MONDO:Lexical, OMIM:611094] xref: DOID:0111038 {source="MONDO:equivalentTo"} -xref: ICD10CM:E72.1 {source="ORDO:289290/attributed", source="ORDO:289290/ntbt", source="Orphanet:289290", source="DOID:0111038"} +xref: ICD10CM:E72.1 {source="Orphanet:289290", source="Orphanet:289290/attributed", source="Orphanet:289290/ntbt", source="DOID:0111038"} xref: MESH:C567015 {source="MONDO:equivalentTo"} xref: OMIM:611094 {source="MONDO:equivalentTo"} -xref: OMIM:614300 {source="MONDO:equivalentTo", source="ORDO:289290/e", source="MONDO:preferredExternal", source="Orphanet:289290", source="DOID:0111038"} +xref: OMIM:614300 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:289290", source="DOID:0111038", source="Orphanet:289290/e"} xref: Orphanet:289290 {source="OMIM:614300", source="MONDO:equivalentTo", source="DOID:0111038"} xref: UMLS:C1970196 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611094"} xref: UMLS:C3280381 {source="OMIM:614300", source="MONDO:equivalentObsolete", source="NCBI:mim2gene_medline"} @@ -447085,15 +446887,15 @@ synonym: "Waldenstrom's syndrome" RELATED [GARD:0007872] synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307] xref: DOID:0060901 {source="MONDO:equivalentTo"} xref: GARD:0007872 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="DOID:0060901", source="ORDO:33226/e"} -xref: MedDRA:10047801 {source="Orphanet:33226", source="ORDO:33226/e"} -xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="DOID:0060901", source="ORDO:33226/e"} +xref: ICD10CM:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} +xref: MedDRA:10047801 {source="Orphanet:33226", source="Orphanet:33226/e"} +xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} xref: NCIT:C80307 {source="MONDO:equivalentTo", source="exact-label-match"} -xref: OMIM:610430 {source="Orphanet:33226", source="MONDO:superClassOf", source="ORDO:33226/btnt"} +xref: OMIM:610430 {source="Orphanet:33226/btnt", source="Orphanet:33226", source="MONDO:superClassOf"} xref: OMIMPS:153600 {source="MONDO:equivalentTo"} xref: ONCOTREE:WM {source="MONDO:equivalentTo"} xref: Orphanet:33226 {source="MONDO:equivalentTo", source="DOID:0060901", source="OMIM:153600"} -xref: UMLS:C0024419 {source="Orphanet:33226", source="MONDO:equivalentTo", source="NCIT:C80307", source="DOID:0060901", source="ORDO:33226/e"} +xref: UMLS:C0024419 {source="Orphanet:33226", source="MONDO:equivalentTo", source="NCIT:C80307", source="Orphanet:33226/e", source="DOID:0060901"} xref: UMLS:C3549870 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:153600"} is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma @@ -447110,7 +446912,7 @@ subset: predisposition synonym: "macroglobulinemia, Waldenstrom, somatic" EXACT [OMIM:153600] synonym: "macroglobulinemia, waldenstrom, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:153600] synonym: "WM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153600] -xref: OMIM:153600 {source="MONDO:equivalentTo", source="ORDO:33226", source="ORDO:33226/e"} +xref: OMIM:153600 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e"} xref: UMLS:C1835192 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153600"} is_a: MONDO:0100280 {source="OMIM:153600", source="https://github.com/monarch-initiative/mondo/issues/2562", source="https://orcid.org/0000-0001-5493-2602"} ! Waldenstrom macroglobulinemia created_by: http://orcid.org/0000-0001-5208-3432 @@ -447181,9 +446983,9 @@ synonym: "enhanced S-cone syndrome" EXACT [MONDO:Lexical, OMIM:268100, Orphanet: synonym: "ESCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268100] synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540] xref: DOID:0090059 {source="MONDO:equivalentTo"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:53540/attributed", source="ORDO:53540/ntbt", source="Orphanet:53540"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} xref: MESH:C564835 {source="MONDO:equivalentTo"} -xref: OMIM:268100 {source="MONDO:equivalentTo", source="DOID:0090059", source="ORDO:53540/e", source="Orphanet:53540"} +xref: OMIM:268100 {source="Orphanet:53540/e", source="MONDO:equivalentTo", source="DOID:0090059", source="Orphanet:53540"} xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:directSiblingOf"} xref: UMLS:C1849394 {source="NCBI:mim2gene_medline", source="OMIM:268100", source="MONDO:equivalentTo", source="Orphanet:53540"} is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disorder @@ -447201,11 +447003,11 @@ synonym: "Favre hyaloideoretinal Degeneration" EXACT [OMIM:268100] synonym: "Goldmann-Favre syndrome" EXACT [OMIM:268100] synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540] xref: GARD:0010781 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="ORDO:53540/attributed", source="ORDO:53540/ntbt", source="Orphanet:53540"} -xref: OMIM:268100 {source="MONDO:relatedTo", source="DOID:0090059", source="ORDO:53540/e", source="Orphanet:53540"} +xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} +xref: OMIM:268100 {source="MONDO:relatedTo", source="Orphanet:53540/e", source="DOID:0090059", source="Orphanet:53540"} xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"} xref: SCTID:232065000 {source="MONDO:equivalentTo"} -xref: UMLS:C0339541 {source="OMIM:268100", source="MONDO:notFoundInDiseaseSubset", source="ORDO:53540/e", source="Orphanet:53540"} +xref: UMLS:C0339541 {source="Orphanet:53540/e", source="OMIM:268100", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:53540"} is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant", source="Orphanet:53540", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disorder is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7974 {source="mim2gene_medgen"} ! NR2E3 @@ -447256,10 +447058,10 @@ synonym: "succinate CoQ reductase deficiency" RELATED [OMIM:252011] synonym: "succinate dehydrogenase deficiency" RELATED [GARD:0005053] xref: DOID:0060537 {source="MONDO:equivalentTo"} xref: GARD:0005053 {source="MONDO:equivalentTo"} -xref: ICD10CM:G71.3 {source="ORDO:3208/attributed", source="ORDO:3208/ntbt", source="Orphanet:3208", source="DOID:0060537"} +xref: ICD10CM:G71.3 {source="Orphanet:3208", source="DOID:0060537", source="Orphanet:3208/attributed", source="Orphanet:3208/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C565375 {source="MONDO:equivalentTo", source="DOID:0060537"} -xref: OMIM:252011 {source="MONDO:equivalentTo", source="Orphanet:3208", source="ORDO:3208/e", source="DOID:0060537"} +xref: OMIM:252011 {source="MONDO:equivalentTo", source="Orphanet:3208", source="DOID:0060537", source="Orphanet:3208/e"} xref: Orphanet:3208 {source="MONDO:equivalentTo", source="OMIM:252011", source="DOID:0060537"} xref: SCTID:124165006 {source="MONDO:equivalentTo"} xref: UMLS:C1855008 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3208", source="OMIM:252011"} @@ -447281,12 +447083,12 @@ synonym: "Olmsted syndrome" BROAD [Orphanet:659] synonym: "palmoplantar and periorificial keratoderma" EXACT [OMIM:614594, Orphanet:659] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [MONDO:0019014, OMIM:614594] xref: GARD:0004075 {source="MONDO:equivalentTo"} -xref: ICD10CM:Q82.8 {source="Orphanet:659", source="ORDO:659/attributed", source="ORDO:659/ntbt"} -xref: MedDRA:10068842 {source="ORDO:659/e", source="Orphanet:659"} -xref: OMIM:300918 {source="MONDO:siblingOf", source="Orphanet:659", source="ORDO:659/btnt"} -xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="ORDO:659/btnt", source="GARD:0004075"} +xref: ICD10CM:Q82.8 {source="Orphanet:659", source="Orphanet:659/attributed", source="Orphanet:659/ntbt"} +xref: MedDRA:10068842 {source="Orphanet:659", source="Orphanet:659/e"} +xref: OMIM:300918 {source="MONDO:siblingOf", source="Orphanet:659", source="Orphanet:659/btnt"} +xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/btnt"} xref: Orphanet:659 {source="MONDO:equivalentTo", source="GARD:0004075", source="OMIM:614594"} -xref: UMLS:C2609071 {source="ORDO:659/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="OMIM:614594"} +xref: UMLS:C2609071 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/e", source="OMIM:614594"} is_a: MONDO:0031421 {source="OMIM:614594"} ! Olmsted syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18084 {source="mim2gene_medgen"} ! TRPV3 property_value: confidence "0.6931216931216932" xsd:double @@ -447432,23 +447234,23 @@ synonym: "LQT1" EXACT ABBREVIATION [DOID:0110644, MONDO:Lexical, OMIM:192500] synonym: "ventricular fibrillation with prolonged QT interval" EXACT [DOID:0110644, OMIM:192500] xref: DOID:0110644 {source="MONDO:equivalentTo"} xref: GARD:0003284 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:I45.8 {source="DOID:0110644", source="Orphanet:101016", source="ORDO:101016/attributed", source="ORDO:101016/ntbt"} -xref: MedDRA:10039211 {source="Orphanet:101016", source="ORDO:101016/e"} -xref: MESH:D029597 {source="Orphanet:101016", source="ORDO:101016/e"} +xref: ICD10CM:I45.8 {source="DOID:0110644", source="Orphanet:101016/attributed", source="Orphanet:101016/ntbt", source="Orphanet:101016"} +xref: MedDRA:10039211 {source="Orphanet:101016", source="Orphanet:101016/e"} +xref: MESH:D029597 {source="Orphanet:101016", source="Orphanet:101016/e"} xref: NCIT:C85049 {source="MONDO:equivalentTo"} -xref: OMIM:192500 {source="DOID:0110644", source="Orphanet:101016", source="ORDO:101016/e", source="MONDO:equivalentTo"} -xref: OMIM:600919 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:603830 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:611818 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:611819 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:611820 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:612955 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:613485 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:613688 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:613693 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:613695 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:616247 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} -xref: OMIM:616249 {source="Orphanet:101016", source="ORDO:101016/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:192500 {source="DOID:0110644", source="Orphanet:101016", source="MONDO:equivalentTo", source="Orphanet:101016/e"} +xref: OMIM:600919 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:603830 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:611818 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:611819 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:611820 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:612955 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:613485 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:613688 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:613693 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:613695 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:616247 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} +xref: OMIM:616249 {source="Orphanet:101016/btnt", source="Orphanet:101016", source="MONDO:superClassOf", source="MONDO:directSiblingOf"} xref: SCTID:20852007 {source="MONDO:equivalentTo"} xref: UMLS:C1843738 {source="OMIM:192500", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3277700 {source="OMIM:192500", source="MONDO:notFoundInDiseaseSubset"} @@ -447521,8 +447323,8 @@ synonym: "ODCD" EXACT ABBREVIATION [Orphanet:166272] synonym: "odontochondrodysplasia" EXACT [OMIM:184260] synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [OMIM:184260] xref: GARD:0008717 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q78.8 {source="ORDO:166272/attributed", source="ORDO:166272/ntbt", source="Orphanet:166272"} -xref: OMIM:184260 {source="MONDO:equivalentTo", source="ORDO:166272/e", source="Orphanet:166272"} +xref: ICD10CM:Q78.8 {source="Orphanet:166272/attributed", source="Orphanet:166272/ntbt", source="Orphanet:166272"} +xref: OMIM:184260 {source="Orphanet:166272/e", source="MONDO:equivalentTo", source="Orphanet:166272"} xref: Orphanet:166272 {source="MONDO:equivalentTo", source="OMIM:184260"} xref: SCTID:717823001 {source="MONDO:equivalentTo"} xref: UMLS:C0018036 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:166272"} @@ -447643,17 +447445,17 @@ synonym: "hereditary spinal sclerosis" RELATED [GARD:0006468] synonym: "spinocerebellar ataxia, Friedreich" RELATED [GARD:0006468] xref: DOID:12705 {source="MONDO:equivalentTo"} xref: GARD:0006468 {source="MONDO:equivalentTo"} -xref: ICD10CM:G11.1 {source="ORDO:95/inclusion", source="ORDO:95/ntbt", source="Orphanet:95"} +xref: ICD10CM:G11.1 {source="Orphanet:95/ntbt", source="Orphanet:95/inclusion", source="Orphanet:95"} xref: ICD9:334.0 {source="MONDO:equivalentTo", source="DOID:12705", source="i2s"} -xref: MedDRA:10017374 {source="ORDO:95/e", source="Orphanet:95"} -xref: MESH:D005621 {source="MONDO:equivalentTo", source="DOID:12705", source="ORDO:95/e", source="Orphanet:95"} +xref: MedDRA:10017374 {source="Orphanet:95/e", source="Orphanet:95"} +xref: MESH:D005621 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} xref: NCIT:C84718 {source="MONDO:equivalentTo", source="DOID:12705"} -xref: OMIM:229300 {source="DOID:12705", source="MONDO:superClassOf", source="ORDO:95/e", source="Orphanet:95"} -xref: OMIM:601992 {source="DOID:12705", source="MONDO:superClassOf", source="ORDO:95/btnt", source="Orphanet:95"} +xref: OMIM:229300 {source="Orphanet:95/e", source="DOID:12705", source="MONDO:superClassOf", source="Orphanet:95"} +xref: OMIM:601992 {source="Orphanet:95/btnt", source="DOID:12705", source="MONDO:superClassOf", source="Orphanet:95"} xref: Orphanet:95 {source="OMIM:229300", source="MONDO:equivalentTo"} xref: SCTID:10394003 {source="MONDO:equivalentTo", source="DOID:12705"} xref: SCTID:155011003 {source="DOID:12705"} -xref: UMLS:C0016719 {source="MONDO:equivalentTo", source="DOID:12705", source="NCIT:C84718", source="ORDO:95/e", source="Orphanet:95"} +xref: UMLS:C0016719 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="NCIT:C84718", source="Orphanet:95"} xref: UMLS:C1847416 {source="OMIM:229300", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder @@ -447674,7 +447476,7 @@ synonym: "Friedreich ataxia 1" EXACT CLINGEN_PREFERRED [DOID:12705, MONDO:Lexica synonym: "Friedreich ataxia type 1" EXACT [MONDORULE:1, OMIM:229300] synonym: "Friedreich ataxia with retained reflexes" EXACT [OMIM:229300, OMIM:genemap2] xref: MESH:C565561 {source="MONDO:equivalentTo"} -xref: OMIM:229300 {source="MONDO:equivalentTo", source="DOID:12705", source="ORDO:95/e", source="Orphanet:95"} +xref: OMIM:229300 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} xref: UMLS:C1856689 {source="OMIM:229300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0100339 {source="OMIM:229300", source="https://github.com/monarch-initiative/mondo/issues/2807", source="https://orcid.org/0000-0001-5493-2602"} ! Friedreich ataxia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3951 {source="OMIM:229300"} ! FXN @@ -447701,8 +447503,8 @@ synonym: "neuroglial tumor" BROAD [DOID:3070, NCIT:C3059] xref: DOID:3070 {source="MONDO:equivalentTo"} xref: ICDO:9380/3 {source="NCIT:C4822"} xref: KEGG:05214 {source="MONDO:relatedTo", source="DOID:3070"} -xref: MedDRA:10018338 {source="ORDO:182067/e", source="Orphanet:182067"} -xref: MESH:D005910 {source="MONDO:subClassOf", source="ORDO:182067/e", source="DOID:3070", source="Orphanet:182067"} +xref: MedDRA:10018338 {source="Orphanet:182067", source="Orphanet:182067/e"} +xref: MESH:D005910 {source="MONDO:subClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/e"} xref: NCIT:C3059 {source="MONDO:subClassOf", source="DOID:3070"} xref: NCIT:C4822 {source="MONDO:equivalentTo", source="DOID:3070"} xref: Orphanet:182067 {source="MONDO:subClassOf", source="DOID:3070"} @@ -447714,7 +447516,7 @@ xref: SCTID:269505000 {source="DOID:3070"} xref: SCTID:393564001 {source="MONDO:subClassOf", source="DOID:3070"} xref: SCTID:416500007 {source="DOID:3070"} xref: SCTID:74532006 {source="DOID:3070"} -xref: UMLS:C0017638 {source="MONDO:subClassOf", source="ORDO:182067/e", source="DOID:3070", source="Orphanet:182067"} +xref: UMLS:C0017638 {source="MONDO:subClassOf", source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/e"} xref: UMLS:C0555198 {source="MONDO:equivalentTo", source="DOID:3070", source="NCIT:C4822"} is_a: MONDO:0002714 {source="NCIT:C4822"} ! central nervous system cancer is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4822", source="OWLReasoner:2017"} ! glioma @@ -447763,11 +447565,11 @@ synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [OMIM synonym: "SLC12A1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110142 {source="MONDO:equivalentTo"} xref: GARD:0000830 {source="MONDO:equivalentTo"} -xref: ICD10CM:E26.8 {source="ORDO:93604/attributed", source="ORDO:93604/ntbt", source="DOID:0110142", source="Orphanet:93604"} +xref: ICD10CM:E26.8 {source="Orphanet:93604/attributed", source="Orphanet:93604/ntbt", source="DOID:0110142", source="Orphanet:93604"} xref: MESH:C537652 {source="MONDO:equivalentTo"} -xref: OMIM:241200 {source="MONDO:relatedTo", source="ORDO:93604/btnt", source="MONDO:directSiblingOf", source="Orphanet:93604"} -xref: OMIM:300971 {source="MONDO:relatedTo", source="ORDO:93604/btnt", source="MONDO:directSiblingOf", source="Orphanet:93604"} -xref: OMIM:601678 {source="MONDO:equivalentTo", source="GARD:0000830", source="ORDO:93604/e", source="DOID:0110142", source="Orphanet:93604"} +xref: OMIM:241200 {source="MONDO:relatedTo", source="Orphanet:93604/btnt", source="MONDO:directSiblingOf", source="Orphanet:93604"} +xref: OMIM:300971 {source="MONDO:relatedTo", source="Orphanet:93604/btnt", source="MONDO:directSiblingOf", source="Orphanet:93604"} +xref: OMIM:601678 {source="Orphanet:93604/e", source="MONDO:equivalentTo", source="GARD:0000830", source="DOID:0110142", source="Orphanet:93604"} xref: Orphanet:112 {source="MONDO:subClassOf", source="OMIM:601678"} xref: Orphanet:93604 {source="MONDO:subClassOf", source="OMIM:601678"} xref: SCTID:700107006 {source="MONDO:equivalentTo"} @@ -447825,12 +447627,12 @@ synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093] xref: DOID:8600 {source="EFO:1000852", source="MONDO:obsolete"} xref: EFO:1000852 {source="MONDO:equivalentTo"} xref: GARD:0005994 {source="MONDO:equivalentTo"} -xref: ICD10CM:E34.0 {source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093", source="ORDO:100093/e"} +xref: ICD10CM:E34.0 {source="Orphanet:100093/e", source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093"} xref: ICD9:259.2 {source="MONDO:equivalentTo", source="EFO:1000852", source="i2s"} xref: MedDRA:10007270 {source="EFO:1000852"} xref: MESH:D008303 {source="EFO:1000852"} xref: NCIT:C3215 {source="MONDO:equivalentTo", source="EFO:1000852"} -xref: OMIM:114900 {source="MONDO:relatedTo", source="Orphanet:100093", source="ORDO:100093/e"} +xref: OMIM:114900 {source="Orphanet:100093/e", source="MONDO:relatedTo", source="Orphanet:100093"} xref: Orphanet:100093 {source="MONDO:equivalentTo", source="OMIM:114900"} xref: SCTID:35868009 {source="MONDO:equivalentTo", source="EFO:1000852"} xref: UMLS:C0024586 {source="GARD:0005994", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3215"} @@ -447896,11 +447698,11 @@ synonym: "PRRT2 episodic kinesigenic dyskinesia" EXACT [MONDO:design_pattern, MO synonym: "PxMD-PRRT2" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090053 {source="MONDO:equivalentTo"} xref: GARD:0008721 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:G24.8 {source="ORDO:98809/attributed", source="ORDO:98809/ntbt", source="DOID:0090053", source="Orphanet:98809"} +xref: ICD10CM:G24.8 {source="DOID:0090053", source="Orphanet:98809/attributed", source="Orphanet:98809/ntbt", source="Orphanet:98809"} xref: ICD9:333.5 {source="MONDO:relatedTo", source="i2s"} xref: MESH:C537180 {source="MONDO:equivalentTo"} -xref: OMIM:128200 {source="DOID:0090053", source="MONDO:equivalentTo", source="ORDO:98809/e", source="Orphanet:98809"} -xref: OMIM:611031 {source="ORDO:98809/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:98809"} +xref: OMIM:128200 {source="DOID:0090053", source="Orphanet:98809/e", source="MONDO:equivalentTo", source="Orphanet:98809"} +xref: OMIM:611031 {source="Orphanet:98809/btnt", source="MONDO:superClassOf", source="MONDO:directSiblingOf", source="Orphanet:98809"} xref: Orphanet:98809 {source="MONDO:subClassOf", source="DOID:0090053", source="OMIM:128200"} xref: SCTID:609221008 {source="MONDO:equivalentTo"} xref: UMLS:C1868682 {source="OMIM:128200", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98809"} @@ -447939,16 +447741,16 @@ synonym: "MMIHS" EXACT ABBREVIATION [Orphanet:2241] synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610] xref: DOID:0060610 {source="MONDO:equivalentTo"} xref: GARD:0003442 {source="MONDO:equivalentTo", source="Orphanet-shared"} -xref: ICD10CM:Q43.8 {source="DOID:0060610", source="ORDO:2241/attributed", source="ORDO:2241/ntbt", source="Orphanet:2241"} +xref: ICD10CM:Q43.8 {source="DOID:0060610", source="Orphanet:2241/attributed", source="Orphanet:2241/ntbt", source="Orphanet:2241"} xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"} xref: NCIT:C98982 {source="MONDO:equivalentTo"} xref: OMIM:155310 {source="MONDO:relatedTo", source="DOID:0060610"} -xref: OMIM:249210 {source="MONDO:equivalentTo", source="Orphanet:2241", source="ORDO:2241/e"} +xref: OMIM:249210 {source="Orphanet:2241/e", source="MONDO:equivalentTo", source="Orphanet:2241"} xref: Orphanet:2241 {source="OMIM:249210", source="MONDO:equivalentTo", source="DOID:0060610"} xref: Orphanet:2604 {source="MONDO:superClassOf", source="OMIM:155310"} xref: SCTID:253781004 {source="MONDO:equivalentTo"} xref: UMLS:C0266833 {source="MONDO:superClassOf", source="OMIM:155310"} -xref: UMLS:C1608393 {source="MONDO:equivalentTo", source="DOID:0060610", source="NCIT:C98982", source="Orphanet:2241", source="ORDO:2241/e"} +xref: UMLS:C1608393 {source="Orphanet:2241/e", source="MONDO:equivalentTo", source="DOID:0060610", source="NCIT:C98982", source="Orphanet:2241"} xref: UMLS:C1835084 {source="NCBI:mim2gene_medline", source="MONDO:superClassOf", source="OMIM:155310"} xref: UMLS:C1864996 {source="MONDO:relatedTo", source="OMIM:155310"} is_a: MONDO:0025986 {source="OMIM:249210"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome @@ -450499,14 +450301,14 @@ synonym: "PNKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118800] synonym: "PxMD-PNKD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155] xref: DOID:0090049 {source="MONDO:equivalentTo"} xref: GARD:0008722 {source="MONDO:subClassOf", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:G24.8 {source="Orphanet:98810", source="DOID:0090049", source="ORDO:98810/attributed", source="ORDO:98810/ntbt"} -xref: MedDRA:10065657 {source="ORDO:98810/e", source="Orphanet:98810"} -xref: MedDRA:10065658 {source="ORDO:98810/e", source="Orphanet:98810"} -xref: MESH:C537181 {source="ORDO:98810/e", source="Orphanet:98810"} -xref: OMIM:118800 {source="ORDO:98810/e", source="Orphanet:98810", source="MONDO:equivalentTo", source="DOID:0090049"} -xref: OMIM:611147 {source="Orphanet:98810", source="MONDO:superClassOf", source="ORDO:98810/btnt"} +xref: ICD10CM:G24.8 {source="Orphanet:98810/attributed", source="Orphanet:98810/ntbt", source="Orphanet:98810", source="DOID:0090049"} +xref: MedDRA:10065657 {source="Orphanet:98810", source="Orphanet:98810/e"} +xref: MedDRA:10065658 {source="Orphanet:98810", source="Orphanet:98810/e"} +xref: MESH:C537181 {source="Orphanet:98810", source="Orphanet:98810/e"} +xref: OMIM:118800 {source="Orphanet:98810", source="MONDO:equivalentTo", source="DOID:0090049", source="Orphanet:98810/e"} +xref: OMIM:611147 {source="Orphanet:98810/btnt", source="Orphanet:98810", source="MONDO:superClassOf"} xref: Orphanet:98810 {source="MONDO:subClassOf", source="OMIM:118800", source="DOID:0090049"} -xref: UMLS:C1869117 {source="ORDO:98810/e", source="NCBI:mim2gene_medline", source="Orphanet:98810", source="OMIM:118800", source="MONDO:notFoundInDiseaseSubset"} +xref: UMLS:C1869117 {source="NCBI:mim2gene_medline", source="Orphanet:98810", source="OMIM:118800", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98810/e"} is_a: MONDO:0015427 {source="MONDO:Redundant", source="Orphanet:98810"} ! paroxysmal dyskinesia is_a: MONDO:0044807 {source="DOID:0090049", source="MONDO:Redundant", source="OMIM:118800", source="indirect"} ! inherited dystonia is_a: MONDO:0700088 {source="Orphanet:98810"} ! paroxysmal nonkinesigenic dyskinesia @@ -450770,12 +450572,12 @@ synonym: "WHIMS" EXACT ABBREVIATION [DOID:0060591, MONDO:Lexical, OMIM:193670] synonym: "WILM" EXACT ABBREVIATION [Orphanet:51636] xref: DOID:0060591 {source="MONDO:equivalentTo"} xref: GARD:0009297 {source="MONDO:equivalentTo"} -xref: ICD10CM:D81.8 {source="ORDO:51636/attributed", source="ORDO:51636/ntbt", source="Orphanet:51636", source="DOID:0060591"} -xref: MESH:C536697 {source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="DOID:0060591"} -xref: OMIM:193670 {source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="DOID:0060591"} +xref: ICD10CM:D81.8 {source="Orphanet:51636", source="Orphanet:51636/attributed", source="Orphanet:51636/ntbt", source="DOID:0060591"} +xref: MESH:C536697 {source="MONDO:equivalentTo", source="Orphanet:51636", source="Orphanet:51636/e", source="DOID:0060591"} +xref: OMIM:193670 {source="MONDO:equivalentTo", source="Orphanet:51636", source="Orphanet:51636/e", source="DOID:0060591"} xref: Orphanet:51636 {source="MONDO:equivalentTo", source="OMIM:193670"} xref: SCTID:234571003 {source="MONDO:equivalentTo"} -xref: UMLS:C0472817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="OMIM:193670", source="DOID:0060591"} +xref: UMLS:C0472817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:51636", source="OMIM:193670", source="Orphanet:51636/e", source="DOID:0060591"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015135 {source="MONDO:0018033-obsoleted"} ! primary immunodeficiency due to a genetic defect in innate immunity is_a: MONDO:0023880 {source="OMIM:193670"} ! WHIM syndrome @@ -450796,9 +450598,9 @@ synonym: "MARTSOLF syndrome" BROAD [OMIM:212720] synonym: "Martsolf syndrome" BROAD [Orphanet:1387] xref: DOID:0111586 {source="MONDO:equivalentTo"} xref: GARD:0003406 {source="MONDO:equivalentTo", source="Orphanet-shared", source="OMIM-shared"} -xref: ICD10CM:Q87.8 {source="Orphanet:1387", source="ORDO:1387/attributed", source="ORDO:1387/ntbt"} +xref: ICD10CM:Q87.8 {source="Orphanet:1387", source="Orphanet:1387/attributed", source="Orphanet:1387/ntbt"} xref: MESH:C536028 {source="MONDO:equivalentTo"} -xref: OMIM:212720 {source="Orphanet:1387", source="ORDO:1387/e", source="MONDO:equivalentTo"} +xref: OMIM:212720 {source="Orphanet:1387", source="MONDO:equivalentTo", source="Orphanet:1387/e"} xref: Orphanet:1387 {source="MONDO:equivalentTo", source="OMIM:212720"} xref: SCTID:722380003 {source="MONDO:equivalentTo"} xref: UMLS:C0796037 {source="Orphanet:1387", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:212720"} @@ -450852,12 +450654,12 @@ synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" RELAT synonym: "visceral neuropathy familial" RELATED [GARD:0003969] synonym: "visceral neuropathy, familial, autosomal recessive" RELATED [OMIM:243180] xref: GARD:0003969 {source="MONDO:equivalentTo", source="OMIM-shared"} -xref: ICD10CM:K59.8 {source="Orphanet:99811", source="ORDO:99811/attributed", source="ORDO:99811/ntbt"} -xref: MESH:C537394 {source="ORDO:99811/e", source="Orphanet:99811", source="MONDO:equivalentTo"} +xref: ICD10CM:K59.8 {source="Orphanet:99811/attributed", source="Orphanet:99811/ntbt", source="Orphanet:99811"} +xref: MESH:C537394 {source="Orphanet:99811", source="MONDO:equivalentTo", source="Orphanet:99811/e"} xref: OMIM:243180 {source="MONDO:equivalentTo"} xref: Orphanet:2978 {source="MONDO:subClassOf", source="OMIM:243180"} xref: Orphanet:99811 {source="MONDO:equivalentTo"} -xref: UMLS:C1855733 {source="ORDO:99811/e", source="NCBI:mim2gene_medline", source="Orphanet:99811", source="MONDO:equivalentTo", source="OMIM:243180"} +xref: UMLS:C1855733 {source="NCBI:mim2gene_medline", source="Orphanet:99811", source="MONDO:equivalentTo", source="Orphanet:99811/e", source="OMIM:243180"} is_a: MONDO:0000858 {source="DC-OMIM:243180"} ! neuronal intestinal dysplasia is_a: MONDO:0017574 {source="Orphanet:99811"} ! chronic intestinal pseudoobstruction is_a: MONDO:0023961 {source="OMIM:243180"} ! visceral neuropathy, familial @@ -450870,7 +450672,7 @@ name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onse synonym: "IMNEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616263, Orphanet:456312] synonym: "infantile-onset multisystem neurologic, endocrine, and pancreatic disease" EXACT [OMIM:616263, OMIM:genemap2] synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" EXACT [MONDO:Lexical, OMIM:616263] -xref: OMIM:616263 {source="Orphanet:456312", source="ORDO:456312/e", source="MONDO:equivalentTo"} +xref: OMIM:616263 {source="Orphanet:456312", source="MONDO:equivalentTo", source="Orphanet:456312/e"} xref: Orphanet:456312 {source="MONDO:equivalentTo"} xref: UMLS:C4015728 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0024189 {source="OMIM:616263"} ! neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset @@ -450943,14 +450745,14 @@ synonym: "ETRS" EXACT ABBREVIATION [Orphanet:983] synonym: "TRS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:983] synonym: "vanishing testes syndrome" EXACT [Orphanet:983] synonym: "vanishing testis syndrome" EXACT [Orphanet:983] -xref: ICD10CM:Q55.0 {source="Orphanet:983", source="ORDO:983/specific", source="ORDO:983/e"} +xref: ICD10CM:Q55.0 {source="Orphanet:983", source="Orphanet:983/e", source="Orphanet:983/specific"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="i2s"} -xref: MedDRA:10002641 {source="Orphanet:983", source="ORDO:983/e"} +xref: MedDRA:10002641 {source="Orphanet:983", source="Orphanet:983/e"} xref: Orphanet:983 {source="MONDO:equivalentTo", source="OMIM:273250"} xref: SCTID:53599007 {source="MONDO:equivalentTo"} -xref: UMLS:C0266427 {source="Orphanet:983", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273250", source="ORDO:983/e"} -xref: UMLS:C0405582 {source="Orphanet:983", source="MONDO:notFoundInDiseaseSubset", source="ORDO:983/e"} -xref: UMLS:C1261504 {source="Orphanet:983", source="MONDO:notFoundInDiseaseSubset", source="ORDO:983/e"} +xref: UMLS:C0266427 {source="Orphanet:983", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:273250", source="Orphanet:983/e"} +xref: UMLS:C0405582 {source="Orphanet:983", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:983/e"} +xref: UMLS:C1261504 {source="Orphanet:983", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:983/e"} is_a: MONDO:0005372 ! male infertility is_a: MONDO:0017966 {source="Orphanet:983"} ! 46,XY disorder of gonadal development relationship: has_modifier MONDO:0021136 ! rare @@ -450993,6 +450795,27 @@ is_a: MONDO:0003847 {source="OMIM:193007"} ! Mendelian disease is_a: MONDO:0004900 {source="https://orcid.org/0000-0001-5208-3432"} ! peripheral vertigo relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/2686 +[Term] +id: MONDO:8000023 +name: type 3 autoimmune lymphoproliferative syndrome +def: "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577] +xref: NCIT:C39577 {source="MONDO:equivalentTo"} +xref: UMLS:C1519711 {source="NCIT:C39577", source="MONDO:equivalentTo"} +is_a: MONDO:0017979 {source="NCIT:C39577"} ! autoimmune lymphoproliferative syndrome +relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4098 + +[Term] +id: MONDO:8000024 +name: autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +def: "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene." [MONDO:patterns/disease_series_by_gene] +xref: DOID:0110119 {source="MONDO:equivalentTo"} +xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"} +xref: UMLS:C3809928 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615559"} +is_a: MONDO:0017979 {source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome +intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9399 ! PRKCD +relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4098 + [Term] id: MONDO:8000030 name: obsolete morphological anomaly @@ -451035,27 +450858,6 @@ property_value: IAO:0000231 "out of scope" xsd:string is_obsolete: true consider: MONDO:0000001 -[Term] -id: MONDO:8000023 -name: type 3 autoimmune lymphoproliferative syndrome -def: "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577] -xref: NCIT:C39577 {source="MONDO:equivalentTo"} -xref: UMLS:C1519711 {source="NCIT:C39577", source="MONDO:equivalentTo"} -is_a: MONDO:0017979 {source="NCIT:C39577"} ! autoimmune lymphoproliferative syndrome -relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4098 - -[Term] -id: MONDO:8000024 -name: autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD -def: "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene." [MONDO:patterns/disease_series_by_gene] -xref: DOID:0110119 {source="MONDO:equivalentTo"} -xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"} -xref: UMLS:C3809928 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615559"} -is_a: MONDO:0017979 {source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome -intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome -intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9399 ! PRKCD -relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/4098 - [Typedef] id: MONDO:0100332 name: disease has primary infectious agent